-------------------------------------------------------------------------------- UniProt - Swiss-Prot Protein Knowledgebase SIB Swiss Institute of Bioinformatics; Geneva, Switzerland European Bioinformatics Institute (EBI); Hinxton, United Kingdom Protein Information Resource (PIR); Washington DC, USA -------------------------------------------------------------------------------- Description: Index of human variants curated from literature reports Name: humsavar.txt Release: 2024_02 of 27-Mar-2024 -------------------------------------------------------------------------------- This file lists all missense variants annotated in UniProtKB/Swiss-Prot human entries. It provides a variant classification which is intended for research purposes only, not for clinical and diagnostic use. - The column 'Variant category' shows the classification of the variant using the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) terminology (Richards et al. PubMed:25741868) into the following categories: LP/P = likely pathogenic or pathogenic LB/B = likely benign or benign US = uncertain significance These categories are assigned based on the variant annotation in the corresponding UniProtKB/Swiss-Prot entries that is curated from literature reports. The classification may change over time and must not be considered as a definitive statement about the pathogenic role of a variant. - The column 'Disease name' shows the name of the disease or the disease sample in which variants have been found. Names are only provided for diseases catalogued in OMIM and for cancer samples. Statistics for single amino acid variants: LP/P: 32507 LB/B: 39682 US: 10565 Total: 82754 Main Swiss-Prot AA Variant gene name AC FTId change category dbSNP Disease name _________ __________ ___________ ______________ ________ ______________ _____________________ A1BG P04217 VAR_018369 p.His52Arg LB/B rs893184 - A1BG P04217 VAR_018370 p.His395Arg LB/B rs2241788 - A1CF Q9NQ94 VAR_052201 p.Val555Met LB/B rs9073 - A1CF Q9NQ94 VAR_059821 p.Ala558Ser LB/B rs11817448 - A2M P01023 VAR_000012 p.Arg704His LB/B rs1800434 - A2M P01023 VAR_000013 p.Cys972Tyr LB/B rs1800433 - A2M P01023 VAR_000014 p.Ile1000Val LB/B rs669 - A2M P01023 VAR_026820 p.Asn639Asp LB/B rs226405 - A2M P01023 VAR_026821 p.Leu815Gln LB/B rs3180392 - A2ML1 A8K2U0 VAR_055463 p.Gly207Arg LB/B rs11047499 - A2ML1 A8K2U0 VAR_055464 p.Cys970Tyr LB/B rs1558526 - A2ML1 A8K2U0 VAR_055465 p.Thr1131Met LB/B rs7959680 - A2ML1 A8K2U0 VAR_055466 p.Thr1412Ala LB/B rs7315591 - A2ML1 A8K2U0 VAR_059083 p.Asp850Glu LB/B rs1860926 - A2ML1 A8K2U0 VAR_059084 p.His1229Arg LB/B rs10219561 - A2ML1 A8K2U0 VAR_071854 p.Arg1122Trp LB/B rs1860967 - A2ML1 A8K2U0 VAR_071855 p.Met1257Val LB/B rs7308811 - A2ML1 A8K2U0 VAR_071856 p.Thr1312Met LB/B rs201083574 - A2ML1 A8K2U0 VAR_081010 p.Val296Ala LB/B rs192888493 - A2ML1 A8K2U0 VAR_081011 p.Pro356Arg LB/B rs863224953 - A2ML1 A8K2U0 VAR_081014 p.Arg1001Trp LB/B rs201725377 - A2ML1 A8K2U0 VAR_081015 p.Ala1431Val LB/B rs863224955 - A4GALT Q9NPC4 VAR_014296 p.Met37Val LB/B rs11541159 - A4GALT Q9NPC4 VAR_014297 p.Met183Lys LB/B rs74315453 - A4GALT Q9NPC4 VAR_017508 p.Gly187Asp LB/B rs28940572 - A4GALT Q9NPC4 VAR_017509 p.Pro251Leu LB/B rs28940571 - A4GALT Q9NPC4 VAR_022320 p.Gln163Arg LB/B rs28915383 - A4GALT Q9NPC4 VAR_080910 p.Gln211Glu LB/B rs397514502 - A4GNT Q9UNA3 VAR_022096 p.Ala218Asp LB/B rs2246945 - AAAS Q9NRG9 VAR_012804 p.Gln15Lys LP/P rs121918549 Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550] AAAS Q9NRG9 VAR_012805 p.His160Arg LP/P rs1297831120 Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550] AAAS Q9NRG9 VAR_012806 p.Ser263Pro LP/P rs121918550 Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550] AAAS Q9NRG9 VAR_037060 p.Lys108Met LB/B rs13330 - AACS Q86V21 VAR_038303 p.Ile118Val LB/B rs11549081 - AACS Q86V21 VAR_060997 p.Ala470Val LB/B rs59883951 - AADAC P22760 VAR_014798 p.Val281Ile LB/B rs1803155 - AADACL2 Q6P093 VAR_038140 p.Ala186Ser LB/B rs1972977 - AADACL2 Q6P093 VAR_038141 p.Leu343Ile LB/B rs1052562 - AADACL3 Q5VUY0 VAR_060665 p.Phe252Cys LB/B rs7513079 - AADACL3 Q5VUY0 VAR_060666 p.Pro104Ser LB/B rs3010877 - AADACL3 Q5VUY0 VAR_060667 p.Leu128Met LB/B rs3000859 - AADACL3 Q5VUY0 VAR_060668 p.Arg186Trp LB/B rs17038445 - AADACL3 Q5VUY0 VAR_060670 p.Met307Ile LB/B rs3000931 - AADACL3 Q5VUY0 VAR_060671 p.Pro337Leu LB/B rs11121969 - AADAT Q8N5Z0 VAR_061005 p.Val243Ile LB/B rs56350236 - AAGAB Q6PD74 VAR_021533 p.Ile132Leu LB/B rs7173826 - AAK1 Q2M2I8 VAR_031129 p.Lys509Gln LB/B rs6715776 - AAK1 Q2M2I8 VAR_040348 p.Ile59Val LB/B rs34535244 - AAK1 Q2M2I8 VAR_040349 p.Gln533His LB/B rs1263928487 - AAK1 Q2M2I8 VAR_040350 p.Val603Ala LB/B rs56038532 - AAK1 Q2M2I8 VAR_040351 p.Thr694Met LB/B rs55889248 - AAK1 Q2M2I8 VAR_040352 p.Pro725Thr LB/B rs35285785 - AAK1 Q2M2I8 VAR_040353 p.Pro771Arg LB/B rs34422616 - AAK1 Q2M2I8 VAR_040354 p.Gly835Asp LB/B - - AAMDC Q9H7C9 VAR_052696 p.Val92Met LB/B rs2186564 - AAMP Q13685 VAR_037061 p.Ile250Val LB/B rs2305835 - AANAT Q16613 VAR_048168 p.Arg15Cys LB/B rs34470791 - AANAT Q16613 VAR_055086 p.Ala129Thr US rs28936679 - AAR2 Q9Y312 VAR_048127 p.Pro124Thr LB/B rs6121183 - AARD Q4LEZ3 VAR_043570 p.Gly96Arg LB/B rs16889283 - AARS1 P49588 VAR_028204 p.Gly275Asp LB/B rs11537667 - AARS1 P49588 VAR_063527 p.Arg329His LP/P rs267606621 Charcot-Marie-Tooth disease, axonal, 2N (CMT2N) [MIM:613287] AARS1 P49588 VAR_067084 p.Asn71Tyr LP/P rs387906792 Charcot-Marie-Tooth disease, axonal, 2N (CMT2N) [MIM:613287] AARS1 P49588 VAR_073293 p.Thr608Met US - - AARS1 P49588 VAR_073719 p.Lys81Thr LP/P rs786205157 Developmental and epileptic encephalopathy 29 (DEE29) [MIM:616339] AARS1 P49588 VAR_073720 p.Arg751Gly LP/P rs143370729 Developmental and epileptic encephalopathy 29 (DEE29) [MIM:616339] AARS1 P49588 VAR_079703 p.Gly913Asp LP/P rs369774476 Developmental and epileptic encephalopathy 29 (DEE29) [MIM:616339] AARS1 P49588 VAR_086780 p.Cys152Phe US - Leukoencephalopathy, hereditary diffuse, with spheroids 2 (HDLS2) [MIM:619661] AARS1 P49588 VAR_086781 p.Ile699Thr US - Trichothiodystrophy 8, non-photosensitive (TTD8) [MIM:619691] AARS1 P49588 VAR_086782 p.Thr726Ala US - Trichothiodystrophy 8, non-photosensitive (TTD8) [MIM:619691] AARS1 P49588 VAR_086783 p.Thr756Ile US - Trichothiodystrophy 8, non-photosensitive (TTD8) [MIM:619691] AARS1 P49588 VAR_086784 p.Cys901Tyr US - Trichothiodystrophy 8, non-photosensitive (TTD8) [MIM:619691] AARS2 Q5JTZ9 VAR_027609 p.Ile339Val LB/B rs324136 - AARS2 Q5JTZ9 VAR_027610 p.Ala484Asp LB/B rs495294 - AARS2 Q5JTZ9 VAR_057357 p.Met850Val LB/B rs35783144 - AARS2 Q5JTZ9 VAR_065956 p.Leu155Arg LP/P rs387907061 Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096] AARS2 Q5JTZ9 VAR_065957 p.Arg592Trp LP/P rs138119149 Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096] AARS2 Q5JTZ9 VAR_071837 p.Phe50Cys LP/P rs587777590 Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889] AARS2 Q5JTZ9 VAR_071838 p.Ala77Val US rs375949891 - AARS2 Q5JTZ9 VAR_071840 p.Arg199Cys US rs200105202 - AARS2 Q5JTZ9 VAR_071841 p.Glu405Lys LP/P rs587777592 Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889] AARS2 Q5JTZ9 VAR_071842 p.Val730Met LB/B rs35623954 - AARS2 Q5JTZ9 VAR_071843 p.Gly965Arg LP/P rs543267101 Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889] AARS2 Q5JTZ9 VAR_088475 p.Gln106His US - - AARS2 Q5JTZ9 VAR_088476 p.Met268Ile US - - AASDH Q4L235 VAR_038309 p.Lys368Arg LB/B rs3796543 - AASDH Q4L235 VAR_038310 p.Ala747Val LB/B rs3796544 - AASDH Q4L235 VAR_038311 p.Val774Ile LB/B rs3796545 - AASDH Q4L235 VAR_038312 p.Thr865Ala LB/B rs12498340 - AASDH Q4L235 VAR_038313 p.Tyr1030Asp LB/B rs8340 - AASDH Q4L235 VAR_061008 p.Ile61Val LB/B rs34543011 - AASDH Q4L235 VAR_061009 p.Pro93Arg LB/B rs34228795 - AATK Q6ZMQ8 VAR_027267 p.Thr118Met LB/B rs8082016 - AATK Q6ZMQ8 VAR_032679 p.Ser81Phe US - An ovarian mucinous carcinoma sample AATK Q6ZMQ8 VAR_032680 p.Leu97Val US - A lung adenocarcinoma sample AATK Q6ZMQ8 VAR_032681 p.Met104Val US rs1337040042 An ovarian mucinous carcinoma sample AATK Q6ZMQ8 VAR_032682 p.Gly703Cys LB/B rs7503604 - AATK Q6ZMQ8 VAR_032683 p.Ser815Arg LB/B rs56032966 - AATK Q6ZMQ8 VAR_032684 p.Ser923Leu LB/B rs56313973 - AATK Q6ZMQ8 VAR_032685 p.Glu1160Lys LB/B rs55793641 - AATK Q6ZMQ8 VAR_032686 p.Pro1192Ser LB/B rs55856613 - AATK Q6ZMQ8 VAR_032687 p.Phe1266Ser LB/B rs36000545 - AATK Q6ZMQ8 VAR_032688 p.Ala1332Thr LB/B rs55713566 - ABAT P80404 VAR_008883 p.Arg220Lys LP/P rs121434578 GABA transaminase deficiency (GABATD) [MIM:613163] ABAT P80404 VAR_018979 p.Gln56Arg LB/B rs1731017 - ABCA1 O95477 VAR_009145 p.Val399Ala LB/B rs9282543 - ABCA1 O95477 VAR_009146 p.Arg587Trp LP/P rs2853574 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_009147 p.Trp590Ser LP/P rs137854496 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_009148 p.Gln597Arg LP/P rs2853578 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_009150 p.Asn935Ser LP/P rs28937313 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_009151 p.Ala937Val LP/P rs137854495 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_009152 p.Asp1289Asn LP/P rs137854500 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_009153 p.Cys1477Arg LP/P rs137854494 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_009154 p.Ile1517Arg LP/P - Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_009155 p.Asn1800His LP/P rs146292819 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_012618 p.Arg219Lys LB/B rs2230806 - ABCA1 O95477 VAR_012619 p.Arg230Cys LB/B rs9282541 - ABCA1 O95477 VAR_012620 p.Ala255Thr LP/P rs758100110 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_012621 p.Val771Met LB/B rs2066718 - ABCA1 O95477 VAR_012622 p.Thr774Pro LB/B rs35819696 - ABCA1 O95477 VAR_012623 p.Lys776Asn LB/B rs138880920 - ABCA1 O95477 VAR_012624 p.Val825Ile LB/B rs2066715 - ABCA1 O95477 VAR_012625 p.Ile883Met LB/B rs2066714 - ABCA1 O95477 VAR_012626 p.Thr929Ile LP/P - Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_012627 p.Ala1046Asp LP/P rs141021096 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_012628 p.Met1091Thr LP/P - Hypoalphalipoproteinemia, primary, 1 (FHA1) [MIM:604091] ABCA1 O95477 VAR_012629 p.Glu1172Asp LB/B rs33918808 - ABCA1 O95477 VAR_012630 p.Ser1506Leu LP/P rs137854497 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_012631 p.Lys1587Arg LB/B rs2230808 - ABCA1 O95477 VAR_012632 p.Asn1611Asp LP/P - Hypoalphalipoproteinemia, primary, 1 (FHA1) [MIM:604091] ABCA1 O95477 VAR_012633 p.Ser1731Cys LB/B rs760507032 - ABCA1 O95477 VAR_012635 p.Arg2081Trp LP/P rs137854501 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_012636 p.Pro2150Leu LP/P rs369098049 Hypoalphalipoproteinemia, primary, 1 (FHA1) [MIM:604091] ABCA1 O95477 VAR_012637 p.Leu2168Pro LB/B rs2853577 - ABCA1 O95477 VAR_012638 p.Ile1555Thr LB/B rs1997618 - ABCA1 O95477 VAR_012639 p.Leu1648Pro LB/B rs1883024 - ABCA1 O95477 VAR_017016 p.Ser1181Phe LB/B rs76881554 - ABCA1 O95477 VAR_017529 p.Pro85Leu LP/P rs145183203 Hypoalphalipoproteinemia, primary, 1 (FHA1) [MIM:604091] ABCA1 O95477 VAR_017530 p.Asp1099Tyr LP/P rs28933692 Hypoalphalipoproteinemia, primary, 1 (FHA1) [MIM:604091] ABCA1 O95477 VAR_035724 p.Glu210Asp US - A colorectal cancer sample ABCA1 O95477 VAR_035725 p.Asp917Tyr US - A colorectal cancer sample ABCA1 O95477 VAR_035726 p.Ala1407Thr US rs189206655 A colorectal cancer sample ABCA1 O95477 VAR_035727 p.Ala2109Thr US - A colorectal cancer sample ABCA1 O95477 VAR_037968 p.Asn935His LP/P rs28937314 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_037969 p.Val1054Ile LB/B rs13306072 - ABCA1 O95477 VAR_037970 p.Arg1680Trp LP/P rs137854498 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_037971 p.Phe2009Ser LP/P rs137854499 Hypoalphalipoproteinemia, primary, 1 (FHA1) [MIM:604091] ABCA1 O95477 VAR_062481 p.Pro248Ala LB/B rs142625938 - ABCA1 O95477 VAR_062482 p.Glu284Lys LP/P - Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_062483 p.Ser364Cys LB/B rs775035559 - ABCA1 O95477 VAR_062484 p.Lys401Gln LB/B rs138487227 - ABCA1 O95477 VAR_062485 p.Tyr482Cys LP/P - Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_062486 p.Arg496Trp LB/B rs147675550 - ABCA1 O95477 VAR_062487 p.Trp590Leu LP/P rs137854496 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_062488 p.Arg638Gln LB/B rs374190304 - ABCA1 O95477 VAR_062489 p.Thr774Ser LB/B - - ABCA1 O95477 VAR_062490 p.Glu815Gly LB/B rs145582736 - ABCA1 O95477 VAR_062491 p.Trp840Arg LP/P rs1322998567 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_062492 p.Pro1065Ser LB/B - - ABCA1 O95477 VAR_062493 p.Arg1068Cys LP/P rs745593394 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_062494 p.Gly1216Val LB/B rs562403512 - ABCA1 O95477 VAR_062495 p.Arg1341Thr LB/B rs147743782 - ABCA1 O95477 VAR_062496 p.Ser1376Gly LB/B rs145689805 - ABCA1 O95477 VAR_062497 p.Leu1379Phe LP/P - Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_062498 p.Arg1615Gln LB/B rs1251839800 - ABCA1 O95477 VAR_062499 p.Ala1670Thr LB/B rs1203589782 - ABCA1 O95477 VAR_062500 p.Arg1680Gln LB/B rs150125857 - ABCA1 O95477 VAR_062501 p.Val1704Asp LP/P - Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_062502 p.Arg1851Gln LP/P rs1055285452 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_062503 p.Arg1897Trp US rs760768125 Hypoalphalipoproteinemia, primary, 1 (FHA1) [MIM:604091] ABCA1 O95477 VAR_062504 p.Arg1901Ser LP/P - Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_062505 p.Arg1925Gln LB/B rs142688906 - ABCA1 O95477 VAR_062506 p.Phe2163Ser LB/B - - ABCA1 O95477 VAR_062507 p.Gln2196His LP/P rs564764153 Tangier disease (TGD) [MIM:205400] ABCA1 O95477 VAR_062508 p.Asp2243Glu LB/B rs34879708 - ABCA1 O95477 VAR_062509 p.Val2244Ile LB/B rs144588452 - ABCA10 Q8WWZ4 VAR_028384 p.Pro203Ser LB/B rs9909216 - ABCA10 Q8WWZ4 VAR_028385 p.Ile287Val LB/B rs11657804 - ABCA10 Q8WWZ4 VAR_028386 p.Met916Thr LB/B rs4968849 - ABCA10 Q8WWZ4 VAR_055469 p.Arg1322Trp LB/B rs10491178 - ABCA12 Q86UK0 VAR_019597 p.Ser459Thr LB/B rs113112835 - ABCA12 Q86UK0 VAR_019598 p.Asn1380Ser LP/P rs28940269 Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_019599 p.Gly1381Glu LP/P rs28940268 Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_019600 p.Arg1514His LP/P rs28940270 Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_019601 p.Glu1539Lys LP/P rs28940271 Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_019602 p.Gly1651Ser LP/P rs28940568 Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_027444 p.Glu550Gly LB/B rs16853149 - ABCA12 Q86UK0 VAR_027445 p.Ser777Thr LB/B rs7560008 - ABCA12 Q86UK0 VAR_027446 p.Gly1251Asp LB/B rs13414448 - ABCA12 Q86UK0 VAR_027447 p.Arg1546Cys LB/B rs13401480 - ABCA12 Q86UK0 VAR_027448 p.Glu2064Lys LB/B rs1213011 - ABCA12 Q86UK0 VAR_027449 p.Asp2365Asn LB/B rs726070 - ABCA12 Q86UK0 VAR_055473 p.Trp199Cys LB/B rs16853238 - ABCA12 Q86UK0 VAR_055474 p.Asn237His LB/B rs11890512 - ABCA12 Q86UK0 VAR_055475 p.Gln274Arg LB/B rs11890468 - ABCA12 Q86UK0 VAR_055476 p.Arg287Gly LB/B rs11891778 - ABCA12 Q86UK0 VAR_062663 p.Ala476Val US rs370640837 A pancreatic ductal adenocarcinoma sample ABCA12 Q86UK0 VAR_067075 p.Thr345Pro LP/P rs1295935868 Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_067076 p.Ser387Asn LP/P rs746315995 Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500] ABCA12 Q86UK0 VAR_067077 p.Gly1136Asp LP/P - Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_067078 p.Gly1179Arg LP/P rs267606622 Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500] ABCA12 Q86UK0 VAR_067079 p.Trp1235Ser LP/P - Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_067080 p.Ile1494Thr LP/P rs1263698595 Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_067081 p.Gly1559Val LP/P rs1457513156 Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_067082 p.Pro1798Leu LP/P rs181314573 Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_067083 p.Thr1980Lys LP/P rs763858530 Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA13 Q86UQ4 VAR_055470 p.Thr1508Ile LB/B rs6583483 - ABCA13 Q86UQ4 VAR_059087 p.Pro506Leu LB/B rs1880738 - ABCA13 Q86UQ4 VAR_059088 p.Arg555His LB/B rs2361519 - ABCA13 Q86UQ4 VAR_059089 p.Ile767Ser LB/B rs17712293 - ABCA13 Q86UQ4 VAR_059090 p.Glu799Lys LB/B rs17547816 - ABCA13 Q86UQ4 VAR_059091 p.Ile1434Val LB/B rs17132195 - ABCA13 Q86UQ4 VAR_059092 p.Phe1540Leu LB/B rs17712299 - ABCA13 Q86UQ4 VAR_059093 p.Ile1889Lys LB/B rs17132197 - ABCA13 Q86UQ4 VAR_059094 p.Asn2033Asp LB/B rs17661364 - ABCA13 Q86UQ4 VAR_059095 p.Ser2154Leu LB/B rs17092911 - ABCA13 Q86UQ4 VAR_059096 p.Ala2178Glu LB/B rs1880736 - ABCA13 Q86UQ4 VAR_059097 p.Leu2212Ser LB/B rs17132198 - ABCA13 Q86UQ4 VAR_059098 p.Lys2436Arg LB/B rs17132206 - ABCA13 Q86UQ4 VAR_059099 p.Ser2537Ala LB/B rs17132208 - ABCA13 Q86UQ4 VAR_059100 p.Arg2674Trp LB/B rs2222648 - ABCA13 Q86UQ4 VAR_059101 p.Ala3142Val LB/B rs3931814 - ABCA13 Q86UQ4 VAR_059102 p.Tyr3851Phe LB/B rs17132289 - ABCA13 Q86UQ4 VAR_059103 p.Asn4277Asp LB/B rs4917152 - ABCA13 Q86UQ4 VAR_059104 p.Gln4302Arg LB/B rs4917153 - ABCA13 Q86UQ4 VAR_059105 p.Pro4335Ala LB/B rs17132370 - ABCA2 Q9BZC7 VAR_044526 p.Pro583His LB/B rs908828 - ABCA2 Q9BZC7 VAR_044527 p.Phe674Val LB/B rs2090625 - ABCA3 Q99758 VAR_023497 p.Leu101Pro LP/P rs121909182 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_023498 p.Asn568Asp LP/P rs121909184 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_023499 p.Leu1553Pro LP/P rs121909183 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_023500 p.Gln1591Pro LP/P rs28936691 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_025061 p.Asn140His LB/B rs45447801 - ABCA3 Q99758 VAR_025062 p.Pro766Ser LB/B rs45592239 - ABCA3 Q99758 VAR_035728 p.Leu290Met US - A breast cancer sample ABCA3 Q99758 VAR_035729 p.Glu801Asp US - A breast cancer sample ABCA3 Q99758 VAR_035730 p.His1069Gln US - A breast cancer sample ABCA3 Q99758 VAR_084240 p.Arg43Leu US - Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084241 p.Gln215Lys LP/P rs879159551 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084242 p.Arg280Cys US rs201299260 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084243 p.Arg288Lys US rs117603931 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084244 p.Glu292Val US rs149989682 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084245 p.Leu579Pro US - Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084246 p.Arg605Gln US rs760006956 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084247 p.Glu690Lys LP/P - Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084248 p.Leu982Pro LP/P rs1402761450 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084249 p.Asn1076Lys US - Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084250 p.Thr1114Met LP/P rs891579143 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084251 p.Gly1221Ser LP/P - Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084252 p.Pro1301Leu LP/P rs762699052 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084253 p.Gly1302Glu US - Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084254 p.Lys1388Asn LP/P - Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084255 p.Val1399Met LP/P rs763166660 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084257 p.Leu1580Pro LP/P - Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA4 P78363 VAR_008398 p.Arg18Trp LP/P rs121909205 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008399 p.Arg24His US rs62645958 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008400 p.Cys54Tyr LP/P rs150774447 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008401 p.Gly65Glu LP/P rs62654395 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008401 p.Gly65Glu LP/P rs62654395 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008402 p.Cys75Gly LP/P rs61748526 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008403 p.Asn96Asp LP/P rs61748529 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008404 p.Asn96His US rs61748529 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008405 p.Ala192Thr LP/P rs61748535 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008406 p.Arg212Cys LP/P rs61750200 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008406 p.Arg212Cys LP/P rs61750200 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008407 p.Asp249Gly LP/P rs62646865 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008408 p.Thr300Asn LP/P rs61748544 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008409 p.Ser336Cys LP/P rs61748547 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008410 p.Tyr340Asp LP/P rs61748548 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008411 p.Ala407Val LP/P rs61751264 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008411 p.Ala407Val LP/P rs61751264 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008412 p.Ser445Arg LP/P rs61748552 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008413 p.Glu471Lys US rs1800548 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008413 p.Glu471Lys US rs1800548 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008414 p.Asp523Glu LP/P rs62646868 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008415 p.Leu541Pro LP/P rs61751392 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008415 p.Leu541Pro LP/P rs61751392 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008415 p.Leu541Pro LP/P rs61751392 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008416 p.Arg572Pro LP/P rs61748559 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008417 p.Arg572Gln LP/P rs61748559 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008418 p.Arg602Trp LP/P rs61749409 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008419 p.Phe608Ile LP/P rs61752398 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008420 p.Val643Gly US rs61754024 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008421 p.Asp645Asn LP/P rs61749418 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008422 p.Gly818Glu LP/P rs61750202 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008423 p.Trp821Arg LP/P rs61749433 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008424 p.Gly851Asp LP/P rs61749436 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008425 p.Gly863Ala LP/P rs76157638 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008425 p.Gly863Ala LP/P rs76157638 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008425 p.Gly863Ala LP/P rs76157638 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008426 p.Thr901Ala LB/B rs61754030 - ABCA4 P78363 VAR_008427 p.Val931Met LP/P rs58331765 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008428 p.Arg943Gln LB/B rs1801581 - ABCA4 P78363 VAR_008429 p.Gln957Arg LP/P rs61749448 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008430 p.Asn965Ser LP/P rs201471607 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008431 p.Gly978Cys LP/P rs61749452 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008432 p.Glu1036Lys LP/P rs61750061 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008433 p.Ala1038Val LP/P rs61751374 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008433 p.Ala1038Val LP/P rs61751374 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008433 p.Ala1038Val LP/P rs61751374 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008434 p.Ser1071Leu LP/P rs61750065 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008435 p.Val1072Ala LP/P - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008436 p.Glu1087Lys LP/P rs61751398 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008437 p.Thr1112Asn LP/P rs61750122 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008438 p.Glu1122Lys LP/P rs61751399 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008438 p.Glu1122Lys LP/P rs61751399 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008439 p.Arg1129Leu LP/P rs1801269 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008439 p.Arg1129Leu LP/P rs1801269 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008440 p.Leu1201Arg LP/P rs61750126 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008441 p.Asp1204Asn US rs61750127 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008442 p.Pro1314Thr LB/B rs61754041 - ABCA4 P78363 VAR_008443 p.Pro1380Leu LP/P rs61750130 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008444 p.His1406Tyr LP/P rs61750133 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008445 p.Trp1408Leu LP/P rs61750134 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008446 p.Trp1408Arg LP/P rs61750135 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008447 p.Thr1428Met LB/B rs1800549 - ABCA4 P78363 VAR_008448 p.Val1429Ala LP/P rs61752432 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008449 p.Val1433Ile LP/P rs56357060 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008450 p.Gly1439Asp LP/P rs61750140 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008451 p.Phe1440Ser LP/P rs61750141 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008452 p.Pro1486Leu LP/P rs61750145 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008453 p.Cys1488Arg LP/P rs61750146 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008453 p.Cys1488Arg LP/P rs61750146 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008454 p.Cys1490Tyr LP/P rs61751402 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008454 p.Cys1490Tyr LP/P rs61751402 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008455 p.Arg1517Ser LP/P rs1800550 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008456 p.Thr1526Met LP/P rs61750152 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008457 p.Asp1532Asn LP/P rs62642574 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008458 p.Ile1562Thr US rs1762111 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008458 p.Ile1562Thr US rs1762111 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008458 p.Ile1562Thr US rs1762111 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008458 p.Ile1562Thr US rs1762111 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008459 p.Gly1578Arg LP/P rs1800551 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008460 p.Leu1631Pro LP/P rs61750158 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008461 p.Arg1640Trp LP/P rs61751404 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008461 p.Arg1640Trp LP/P rs61751404 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008462 p.Tyr1652Asp LP/P rs61750560 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008463 p.Ser1696Asn US rs61750564 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008464 p.Gln1703Lys LP/P - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008465 p.Leu1729Pro LP/P rs61750567 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008466 p.Ala1794Asp US rs61751406 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008467 p.Arg1820Pro LP/P rs62646875 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008468 p.His1838Tyr LP/P rs62642562 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008469 p.Arg1843Trp LP/P rs62642576 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008470 p.Asn1868Ile LB/B rs1801466 - ABCA4 P78363 VAR_008471 p.Gly1886Glu LP/P rs62642579 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008473 p.Arg1898His LP/P rs1800552 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008473 p.Arg1898His LP/P rs1800552 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008474 p.Pro1948Leu LB/B rs56142141 - ABCA4 P78363 VAR_008475 p.Gly1961Glu LP/P rs1800553 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008475 p.Gly1961Glu LP/P rs1800553 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008475 p.Gly1961Glu LP/P rs1800553 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008476 p.Leu1970Phe LP/P rs28938473 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008476 p.Leu1970Phe LP/P rs28938473 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008476 p.Leu1970Phe LP/P rs28938473 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008477 p.Gly1977Ser LP/P rs61750639 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008477 p.Gly1977Ser LP/P rs61750639 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008478 p.Leu2027Phe LP/P rs61751408 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008478 p.Leu2027Phe LP/P rs61751408 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008480 p.Arg2030Gln LP/P rs61750641 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008480 p.Arg2030Gln LP/P rs61750641 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008481 p.Val2050Leu LP/P rs41292677 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008481 p.Val2050Leu LP/P rs41292677 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008482 p.Arg2077Trp LP/P rs61750645 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008483 p.Glu2096Lys LP/P rs61750646 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008484 p.Arg2106Cys LP/P rs61750648 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008484 p.Arg2106Cys LP/P rs61750648 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008485 p.Arg2107His LP/P rs62642564 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008485 p.Arg2107His LP/P rs62642564 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008486 p.His2128Arg LP/P rs61750651 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008487 p.Glu2131Lys US rs61750652 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008488 p.Arg2139Trp LP/P rs61750653 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008489 p.Cys2150Tyr LP/P rs61751384 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008489 p.Cys2150Tyr LP/P rs61751384 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008490 p.Lys2160Arg LP/P rs281865405 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008491 p.Asp2177Asn US rs1800555 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008491 p.Asp2177Asn US rs1800555 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008491 p.Asp2177Asn US rs1800555 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008492 p.Ala60Val LP/P rs55732384 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008493 p.Asp846His LB/B rs61754027 - ABCA4 P78363 VAR_008494 p.Ile1846Thr LP/P rs61750575 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008495 p.Arg2038Trp LP/P rs61750643 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_009157 p.Ser2255Ile LB/B rs6666652 - ABCA4 P78363 VAR_012493 p.Leu11Pro LP/P rs62645946 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012495 p.Asn58Lys LP/P rs61748524 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012496 p.Ala60Glu LP/P - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012497 p.Ala60Thr LP/P rs61751411 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012498 p.Pro68Leu LP/P rs62654397 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012499 p.Pro68Arg LP/P rs62654397 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012500 p.Gly72Arg LP/P rs61751412 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012501 p.Val77Glu LP/P rs61748527 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012502 p.Ser100Pro LP/P rs61748530 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012503 p.Arg152Gln LP/P rs62646862 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012504 p.Ile156Val LP/P rs62646863 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012505 p.Gln190His LP/P rs281865397 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012506 p.Ser206Arg LP/P rs61748536 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012507 p.Arg212His LB/B rs6657239 - ABCA4 P78363 VAR_012508 p.Arg220Cys LP/P rs61748538 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012509 p.Cys230Ser LP/P rs1057518767 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012510 p.Leu244Pro LP/P rs62646864 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012511 p.Asn247Ser LP/P rs62645950 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012512 p.Pro309Arg LP/P rs61748545 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012513 p.Glu328Val LP/P rs61751419 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012514 p.Arg333Trp LP/P rs61748546 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012515 p.Trp339Gly LP/P rs61751420 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012516 p.Asn380Lys LP/P rs61748549 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012517 p.His423Arg LB/B rs3112831 - ABCA4 P78363 VAR_012518 p.Phe525Cys LP/P - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012519 p.Arg537Cys LP/P rs61748556 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012520 p.Ala549Pro LP/P rs61748557 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012521 p.Gly550Arg LP/P rs61748558 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012522 p.Val552Ile US rs145525174 Retinitis pigmentosa 19 (RP19) [MIM:601718] ABCA4 P78363 VAR_012523 p.Arg602Gln LP/P rs61749410 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012524 p.Gly607Arg LP/P rs61749412 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012525 p.Gly607Trp LP/P rs61749412 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012526 p.Gln635Lys LP/P rs61749414 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012527 p.Gln636His LP/P rs61752400 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012528 p.Val643Met LP/P rs61749417 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012529 p.Arg653Cys LP/P rs61749420 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012530 p.Leu686Ser LP/P rs61752402 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012531 p.Thr716Met LP/P rs61749426 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012532 p.Cys764Tyr LP/P rs61749428 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012533 p.Ser765Arg LP/P rs61752404 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012534 p.Ser765Asn LP/P rs61749429 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012535 p.Val767Asp LP/P rs61751395 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012536 p.Leu797Pro LP/P rs61749432 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012537 p.Ile824Thr LP/P - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012538 p.Val849Ala LP/P rs61749435 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012539 p.Ala854Thr LP/P rs61749437 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012541 p.Phe873Leu LP/P rs62642570 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012542 p.Thr897Ile LP/P rs61749440 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012543 p.His914Arg LB/B - - ABCA4 P78363 VAR_012544 p.Val935Ala LP/P rs61749444 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012545 p.Arg943Trp LP/P rs61749446 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012545 p.Arg943Trp LP/P rs61749446 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012546 p.Thr959Ile LP/P rs61752409 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012547 p.Thr971Asn LP/P rs61749450 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012548 p.Thr972Asn US rs61749451 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012549 p.Ser974Pro LP/P rs281865400 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012550 p.Val989Ala LP/P rs61749454 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012551 p.Gly991Arg LP/P rs61749455 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012551 p.Gly991Arg LP/P rs61749455 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012552 p.Leu1014Arg LP/P rs61749456 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012553 p.Thr1019Ala LP/P rs61749457 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012554 p.Thr1019Met LP/P rs201855602 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012555 p.Glu1022Lys US rs61749459 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012556 p.Lys1031Glu LP/P rs61750060 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012557 p.Arg1055Trp LP/P rs61752412 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012558 p.Ser1063Pro LP/P rs61752413 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012559 p.Glu1087Asp LP/P rs61752416 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012560 p.Gly1091Glu LP/P rs61752417 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012560 p.Gly1091Glu LP/P rs61752417 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012561 p.Arg1097Cys LP/P - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012562 p.Arg1108Cys LP/P rs61750120 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012562 p.Arg1108Cys LP/P rs61750120 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012563 p.Arg1108His LP/P rs61750121 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012564 p.Arg1108Leu LP/P rs61750121 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012565 p.Arg1129Cys LP/P rs779426136 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012566 p.Lys1148Thr LB/B - - ABCA4 P78363 VAR_012567 p.Leu1250Pro LP/P rs61750128 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012568 p.Thr1253Met US rs61752424 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012569 p.Arg1300Gln US rs61750129 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012570 p.Leu1388Pro LP/P rs61750131 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012571 p.Glu1399Lys LP/P rs62642573 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012572 p.Leu1430Pro LP/P - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012573 p.Phe1440Val LP/P rs61752433 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012574 p.Arg1443His LP/P rs61750142 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012575 p.Cys1488Phe LP/P rs61750147 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012576 p.Cys1488Tyr LP/P rs61750147 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012577 p.Gly1508Cys LP/P - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012578 p.Gln1513Arg LP/P rs281865402 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012579 p.Leu1525Pro LP/P rs61750151 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012580 p.Thr1537Met LP/P rs62642575 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012581 p.Ala1598Asp US rs61750155 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_012581 p.Ala1598Asp US rs61750155 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012582 p.Ala1637Thr LB/B rs61754056 - ABCA4 P78363 VAR_012583 p.Arg1640Gln LP/P rs61751403 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_012583 p.Arg1640Gln LP/P rs61751403 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012583 p.Arg1640Gln LP/P rs61751403 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012585 p.Ser1689Pro LP/P rs61753020 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012586 p.Val1693Ile LP/P rs61750563 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012587 p.Arg1705Leu LP/P rs61753021 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012588 p.Met1733Thr LP/P rs765563320 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012589 p.Ser1736Pro LP/P rs61750568 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012590 p.Gly1748Arg LP/P rs61753025 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012592 p.Leu1763Pro LP/P rs61753028 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012593 p.Pro1776Leu LP/P rs1553187939 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012594 p.Pro1780Ala LP/P rs121909207 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012595 p.Asn1799Asp LP/P rs61750574 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012596 p.Asn1805Asp LP/P rs61753029 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012597 p.Glu1817Asp LB/B - - ABCA4 P78363 VAR_012598 p.Val1884Glu LP/P rs62642578 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012599 p.Glu1885Lys LP/P rs62642563 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012600 p.Val1896Asp LP/P rs61750636 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012601 p.Val1921Met LP/P rs61753032 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012602 p.Leu1940Pro LP/P rs61753033 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012602 p.Leu1940Pro LP/P rs61753033 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012603 p.Leu1971Arg LP/P rs61753034 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012604 p.Gly1975Arg LP/P rs61753036 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012605 p.Leu2035Pro LP/P rs61750642 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012606 p.Gly2059Ala LB/B - - ABCA4 P78363 VAR_012607 p.Leu2060Arg LP/P rs61753039 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_012608 p.Tyr2071Phe LP/P - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012609 p.Arg2077Gly LP/P rs61750645 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012610 p.Arg2107Cys US rs2297669 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012611 p.Gly2146Asp LP/P rs61753044 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_012612 p.Arg2149Leu LP/P rs61750655 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012613 p.Cys2150Arg LP/P rs61750656 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012614 p.Ala2216Val LB/B rs886044763 - ABCA4 P78363 VAR_012615 p.Leu2229Pro LP/P rs61750659 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012616 p.Leu2241Val LP/P rs61748521 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012617 p.Arg2263Leu LP/P rs281865407 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_014703 p.Ser752Ile LB/B rs1801369 - ABCA4 P78363 VAR_035736 p.Thr224Met US rs373540612 A breast cancer sample ABCA4 P78363 VAR_067427 p.Ala762Glu LP/P - Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_067428 p.Trp1724Cys LP/P - Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_067429 p.Ile2047Asn LP/P - Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_067430 p.Cys2137Tyr LP/P - Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_084833 p.Asn14Lys US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084834 p.Arg18Pro US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084837 p.His55Arg US - Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_084838 p.Ser63Pro US - Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_084839 p.Gly72Val US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084840 p.Asn96Lys US rs886039297 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084841 p.Tyr97Cys US rs755691060 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084843 p.Asp108Val US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084844 p.Pro143Leu US rs62646860 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084845 p.Gly172Ser US rs61748532 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084846 p.Ser184Phe US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084847 p.Ser184Arg US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084851 p.Lys223Gln US rs147619585 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084852 p.Ile240Arg US rs1553195472 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084854 p.Ala246Thr US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084855 p.Pro291Leu US rs190540405 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084856 p.Ser320Cys US - Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_084859 p.Tyr345Ser US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084860 p.Ile410Thr US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084861 p.Asn415Lys US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084862 p.Phe418Ser US rs794726979 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084864 p.Tyr440Cys US rs770439859 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_084865 p.Leu455Met US rs764170051 Retinitis pigmentosa 19 (RP19) [MIM:601718] ABCA4 P78363 VAR_084866 p.Asp498Glu US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084867 p.Arg508Cys US rs138157885 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084868 p.Arg511Cys US rs752786160 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084869 p.Cys519Arg US rs1224959251 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084871 p.Trp548Arg US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084873 p.Asp576His US rs374224955 - ABCA4 P78363 VAR_084874 p.Pro593Leu US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084875 p.Tyr603Cys US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084877 p.Glu616Lys US rs1557787473 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084878 p.Gln636Lys US - Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_084880 p.Cys641Ser US rs61749416 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084881 p.Arg653His US rs141823837 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084882 p.Leu661Arg US - Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_084884 p.Gly690Val US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084886 p.Phe754Ser US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084889 p.Gly816Val US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084890 p.Met840Arg US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084892 p.Tyr954Asp US rs61749447 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084893 p.Asn965Tyr US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084894 p.Thr970Pro US rs1570377849 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084895 p.Leu973Ser US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084896 p.Thr977Pro US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084897 p.Gly978Asp US rs61749453 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084898 p.Glu1022Gly US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084900 p.Gly1050Asp US rs61750062 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084901 p.Ile1074Leu US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084902 p.Gly1078Glu US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084903 p.Pro1094Thr US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084904 p.Arg1097Ser US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084905 p.Arg1098Cys US rs756840095 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084907 p.Ser1099Pro US rs61750119 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084908 p.Asp1102Tyr LB/B rs138641544 - ABCA4 P78363 VAR_084909 p.Ile1130Thr US rs1064793010 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084910 p.Cys1140Trp US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084911 p.Leu1145His US - Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_084912 p.Leu1159Ser US rs1340749727 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084913 p.Arg1161His US rs768278935 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084915 p.Gly1183Cys US rs75267647 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_084916 p.Gly1203Asp LP/P - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084917 p.Gly1203Glu US rs146786552 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_084918 p.Gly1203Arg US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084919 p.Met1209Thr LB/B rs76258939 - ABCA4 P78363 VAR_084922 p.Arg1368Cys US rs1183074086 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_084923 p.Lys1371Asn US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084925 p.Asn1442Lys US rs762150575 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084929 p.Pro1484Ser US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084930 p.Pro1503Leu US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084931 p.Pro1511His US rs886046564 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084932 p.Pro1512Arg US rs61750150 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084933 p.Tyr1557Cys US rs1401716074 - ABCA4 P78363 VAR_084934 p.Thr1572Met LB/B rs185093512 - ABCA4 P78363 VAR_084935 p.Gly1591Arg US rs113106943 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084937 p.Gly1623Val LB/B rs1571257969 - ABCA4 P78363 VAR_084941 p.Tyr1754Asp US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084942 p.Ala1762Asp US rs121909206 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084943 p.Ala1773Glu US - - ABCA4 P78363 VAR_084944 p.Ala1773Val US rs760549861 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084945 p.His1838Asn US rs62642562 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084946 p.Met1882Ile US rs752160946 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_084947 p.Val1921Gly US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084948 p.Gly1961Arg US rs142253670 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084949 p.Cys2017Tyr US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084950 p.Ile2023Thr US rs150633517 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084952 p.His2032Arg US rs1242866408 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084953 p.Leu2033Arg US rs1553186896 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084955 p.Arg2040Gln US rs148460146 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084956 p.Val2042Gly US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084957 p.Pro2043Ser US rs763230559 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_084958 p.Ala2064Thr US rs61753040 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084959 p.Lys2078Glu US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084960 p.Pro2097Ser US rs1166357291 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084961 p.Leu2140Gln US rs774475956 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084962 p.Phe2188Ser US rs61750658 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084963 p.Leu2221Pro US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_084964 p.Thr2237Pro US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_085010 p.Glu241Asp US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_085011 p.Arg290Trp US rs781716640 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_085012 p.Val424Ala US - Retinitis pigmentosa 19 (RP19) [MIM:601718] ABCA4 P78363 VAR_085012 p.Val424Ala US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_085013 p.Pro640Leu US rs760790294 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_085017 p.Arg1556Thr US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_085018 p.Gln1703Glu US rs61750565 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_085019 p.Arg1705Gln US rs61753021 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_085020 p.Ile1775Asn US rs771742619 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_085022 p.Tyr1779His US - Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_085023 p.Ala1794Pro US rs1571252997 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_085024 p.His1838Asp US rs62642562 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_085025 p.Arg1898Cys LB/B rs201357151 - ABCA4 P78363 VAR_085026 p.Glu1942Gln US rs760353830 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_085027 p.Pro1948Ser LB/B - - ABCA4 P78363 VAR_085028 p.Gly2074Val US rs367839100 Stargardt disease 1 (STGD1) [MIM:248200] ABCA5 Q8WWZ7 VAR_027571 p.Gln93Lys LB/B rs12383 - ABCA5 Q8WWZ7 VAR_027572 p.Gln484Arg LB/B rs17686569 - ABCA5 Q8WWZ7 VAR_027573 p.Met753Val LB/B rs9898003 - ABCA5 Q8WWZ7 VAR_027574 p.Ala832Ser LB/B rs536009 - ABCA5 Q8WWZ7 VAR_027575 p.Met960Val LB/B rs557491 - ABCA5 Q8WWZ7 VAR_048128 p.Ala178Thr LB/B rs11544715 - ABCA5 Q8WWZ7 VAR_048129 p.Asp1260Gly LB/B rs11544716 - ABCA6 Q8N139 VAR_027576 p.Val282Ile LB/B rs4968839 - ABCA6 Q8N139 VAR_027577 p.Asn610Tyr LB/B rs9282554 - ABCA6 Q8N139 VAR_027578 p.Met698Ile LB/B rs9282553 - ABCA6 Q8N139 VAR_027579 p.Met875Ile LB/B rs7212506 - ABCA6 Q8N139 VAR_027580 p.Asn1322Ser LB/B rs2302134 - ABCA7 Q8IZY2 VAR_027581 p.Glu188Gly LB/B rs3764645 - ABCA7 Q8IZY2 VAR_027582 p.Thr319Ala LB/B rs3752232 - ABCA7 Q8IZY2 VAR_027583 p.His395Arg LB/B rs3764647 - ABCA7 Q8IZY2 VAR_027584 p.Arg463His LB/B rs3752233 - ABCA7 Q8IZY2 VAR_027585 p.Asn718Thr LB/B rs3752239 - ABCA7 Q8IZY2 VAR_027586 p.Arg1349Gln LB/B rs3745842 - ABCA7 Q8IZY2 VAR_027587 p.Gly1527Ala LB/B rs3752246 - ABCA7 Q8IZY2 VAR_027588 p.Gln1686Arg LB/B rs4147918 - ABCA7 Q8IZY2 VAR_027589 p.Ala2045Ser LB/B rs4147934 - ABCA7 Q8IZY2 VAR_060985 p.Ala676Thr LB/B rs59851484 - ABCA7 Q8IZY2 VAR_081204 p.Arg880Gln LP/P rs143718918 Alzheimer disease 9 (AD9) [MIM:608907] ABCA8 O94911 VAR_027590 p.Thr256Ala LB/B rs16973446 - ABCA8 O94911 VAR_027591 p.Gly331Ser LB/B rs4147979 - ABCA8 O94911 VAR_027592 p.Tyr489Phe LB/B rs12150510 - ABCA8 O94911 VAR_027593 p.Cys720Gly LB/B rs16973424 - ABCA8 O94911 VAR_048130 p.Ala416Val LB/B rs35621847 - ABCA8 O94911 VAR_048131 p.Leu659Arg LB/B rs35844316 - ABCA8 O94911 VAR_048132 p.Gly1470Ser LB/B rs35403175 - ABCA8 O94911 VAR_084139 p.Pro649Arg LB/B rs144777539 - ABCA9 Q8IUA7 VAR_027594 p.Arg353His LB/B rs1860447 - ABCA9 Q8IUA7 VAR_027595 p.Asn785Ser LB/B rs17684521 - ABCA9 Q8IUA7 VAR_027596 p.Lys1306Thr LB/B rs2302294 - ABCA9 Q8IUA7 VAR_027597 p.Gly1356Ser LB/B rs9916254 - ABCB1 P08183 VAR_013361 p.Ser893Ala LB/B rs2032582 - ABCB1 P08183 VAR_013362 p.Ser893Thr LB/B rs2032582 - ABCB1 P08183 VAR_014704 p.Asn21Asp LB/B rs9282564 - ABCB1 P08183 VAR_015001 p.Phe103Leu LB/B - - ABCB1 P08183 VAR_015002 p.Gly185Val LB/B rs1128501 - ABCB1 P08183 VAR_015003 p.Ser400Asn LB/B rs2229109 - ABCB1 P08183 VAR_015004 p.Ala999Thr LB/B rs72552784 - ABCB1 P08183 VAR_015005 p.Gln1107Pro LB/B rs55852620 - ABCB1 P08183 VAR_018351 p.Glu108Lys LB/B - - ABCB1 P08183 VAR_018352 p.Met986Val LB/B rs926081975 - ABCB1 P08183 VAR_018353 p.Val1251Ile LB/B rs28364274 - ABCB1 P08183 VAR_022276 p.Phe17Leu LB/B rs28381804 - ABCB1 P08183 VAR_022277 p.Glu566Lys LB/B rs28381902 - ABCB1 P08183 VAR_022278 p.Arg593Cys LB/B rs28381914 - ABCB1 P08183 VAR_022279 p.Ile836Val LB/B rs28381967 - ABCB1 P08183 VAR_022280 p.Pro1051Ala LB/B rs28401798 - ABCB1 P08183 VAR_022281 p.Ser1141Thr LB/B rs2229107 - ABCB1 P08183 VAR_035737 p.Lys887Asn US - A colorectal cancer sample ABCB1 P08183 VAR_055423 p.Asn44Ser LB/B rs1202183 - ABCB1 P08183 VAR_055424 p.Ala80Glu LB/B rs9282565 - ABCB1 P08183 VAR_055425 p.Ile261Val LB/B rs36008564 - ABCB1 P08183 VAR_055426 p.Ala599Thr LB/B rs2235036 - ABCB1 P08183 VAR_055427 p.Arg669Cys LB/B rs35023033 - ABCB1 P08183 VAR_055428 p.Val801Met LB/B rs2235039 - ABCB1 P08183 VAR_055429 p.Ile829Val LB/B rs2032581 - ABCB10 Q9NRK6 VAR_013702 p.Ala150Ser LB/B rs4148756 - ABCB10 Q9NRK6 VAR_031435 p.Asp545Asn LB/B rs35698797 - ABCB10 Q9NRK6 VAR_035735 p.Arg471Thr US - A breast cancer sample ABCB10 Q9NRK6 VAR_048133 p.Arg242Gly LB/B rs17584642 - ABCB11 O95342 VAR_010271 p.Glu297Gly LP/P rs11568372 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_010271 p.Glu297Gly LP/P rs11568372 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013332 p.Val284Leu LP/P - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013333 p.Val444Ala LB/B rs2287622 - ABCB11 O95342 VAR_013334 p.Lys461Glu LP/P rs1274558905 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013335 p.Asp482Gly LP/P rs72549402 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013336 p.Gly982Arg LP/P rs72549399 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013337 p.Gly1004Asp LP/P - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013338 p.Arg1153Cys LP/P rs72549395 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013339 p.Arg1268Gln LP/P rs72549394 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_030386 p.Glu186Gly LP/P rs72551307 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030387 p.Ile206Val LB/B rs11568357 - ABCB11 O95342 VAR_030388 p.Gly238Val LP/P rs72551306 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_030389 p.Arg299Lys LB/B rs2287617 - ABCB11 O95342 VAR_030390 p.Cys336Ser LP/P rs72551305 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_030391 p.Arg432Thr LP/P rs121908935 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030392 p.Ala570Thr LP/P rs886043807 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030393 p.Met677Val LB/B rs11568364 - ABCB11 O95342 VAR_030394 p.Thr923Pro LP/P rs777469571 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030395 p.Ala926Pro LP/P rs72549400 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030396 p.Arg1050Cys LP/P rs72549398 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030397 p.Arg1128His LP/P rs756220860 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030398 p.Glu1186Lys LB/B rs1521808 - ABCB11 O95342 VAR_035349 p.Val284Ala LB/B rs200739891 - ABCB11 O95342 VAR_035350 p.Arg616Gly LB/B - - ABCB11 O95342 VAR_035351 p.Thr619Ala LB/B rs912519986 - ABCB11 O95342 VAR_035352 p.Arg698His LB/B rs138642043 - ABCB11 O95342 VAR_035353 p.Ala865Val LB/B rs118109635 - ABCB11 O95342 VAR_035354 p.Arg958Gln LB/B rs761363245 - ABCB11 O95342 VAR_043074 p.Arg415Gln LB/B rs371656014 - ABCB11 O95342 VAR_043075 p.Asn591Ser LB/B rs11568367 - ABCB11 O95342 VAR_043076 p.Asp676Tyr US - - ABCB11 O95342 VAR_043077 p.Gly855Arg US - - ABCB11 O95342 VAR_055472 p.Ser56Leu LB/B rs11568361 - ABCB11 O95342 VAR_059106 p.Val444Asp LB/B rs2287622 - ABCB11 O95342 VAR_059107 p.Val444Gly LB/B rs2287622 - ABCB11 O95342 VAR_073967 p.Tyr337His US - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_073968 p.Tyr472Cys LP/P rs369860506 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_073969 p.Arg696Trp US rs376216286 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_073970 p.Gln931Pro US - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_073971 p.Asp1131Val LP/P - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_073972 p.His1198Arg US - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_083783 p.Cys129Tyr LP/P - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_083784 p.Gln558His LB/B rs11568369 - ABCB11 O95342 VAR_083785 p.Glu592Gln LB/B rs11568370 - ABCB4 P21439 VAR_020223 p.Leu238Val LB/B rs45596335 - ABCB4 P21439 VAR_020225 p.Arg652Gly LB/B rs2230028 - ABCB4 P21439 VAR_023501 p.Thr175Ala US rs58238559 - ABCB4 P21439 VAR_023502 p.Ser320Phe US rs72552778 Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972] ABCB4 P21439 VAR_023502 p.Ser320Phe US rs72552778 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_023502 p.Ser320Phe US rs72552778 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_023503 p.Ala546Asp LP/P rs121918441 Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972] ABCB4 P21439 VAR_023504 p.Pro1168Ser LP/P rs121918442 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_024359 p.Arg788Gln LP/P rs8187801 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_030763 p.Ile263Val LB/B rs45547936 - ABCB4 P21439 VAR_030765 p.Thr651Asn LB/B rs45476795 - ABCB4 P21439 VAR_043078 p.Asp87Glu LB/B - - ABCB4 P21439 VAR_043079 p.Pro95Ser LB/B rs377268767 - ABCB4 P21439 VAR_043080 p.Trp138Arg LP/P rs72552781 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043081 p.Arg150Lys LP/P rs757693457 Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972] ABCB4 P21439 VAR_043082 p.Phe165Ile LP/P - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_043083 p.Met301Thr LP/P rs72552779 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_043084 p.Ser346Ile LP/P rs67876345 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043085 p.Ile367Val LB/B rs1168923653 - ABCB4 P21439 VAR_043086 p.Glu395Gly LP/P rs72552777 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043087 p.Thr424Ala LP/P rs1263565476 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043088 p.Val425Met LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043089 p.Glu450Gly LB/B rs1189003716 - ABCB4 P21439 VAR_043090 p.Glu528Asp US rs8187797 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_043091 p.Gly535Asp LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043092 p.Ile541Phe LP/P rs66904256 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043092 p.Ile541Phe LP/P rs66904256 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_043093 p.Leu556Arg LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043094 p.Asp564Gly LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043095 p.Arg590Gln US rs45575636 - ABCB4 P21439 VAR_043096 p.Leu591Gln LP/P rs72552776 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_043097 p.Phe711Ser LP/P rs72552773 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043098 p.Gly742Ser LB/B - - ABCB4 P21439 VAR_043099 p.Gly762Glu LP/P - Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972] ABCB4 P21439 VAR_043100 p.Ile764Leu US - - ABCB4 P21439 VAR_043101 p.Thr775Met US rs148052192 - ABCB4 P21439 VAR_043102 p.Ala934Thr US rs61730509 - ABCB4 P21439 VAR_043103 p.Gly983Ser LP/P rs56187107 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043104 p.Leu1082Gln LB/B rs1214110864 - ABCB4 P21439 VAR_073728 p.Thr34Met LP/P rs142794414 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073729 p.Arg47Gly LP/P - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073730 p.Arg47Gln US rs372685632 - ABCB4 P21439 VAR_073731 p.Gly68Arg LP/P rs1343667900 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073732 p.Gly70Arg LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073733 p.Leu71His LP/P rs780641693 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073734 p.Leu73Val LP/P rs8187788 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073734 p.Leu73Val LP/P rs8187788 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073735 p.Phe78Cys LP/P rs1411970557 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073736 p.Ser99Phe LP/P rs1408217402 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073737 p.Gly124Ser LP/P - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073738 p.Gly126Glu LP/P rs1021988376 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073739 p.Phe154Ser LP/P - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073740 p.Thr201Met LP/P rs753318087 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073741 p.Ala250Pro LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073742 p.Ala286Val LP/P rs765478923 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073742 p.Ala286Val LP/P rs765478923 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073743 p.Phe357Leu LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073744 p.Ala364Val LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073745 p.Tyr403His LP/P rs121918443 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073746 p.Arg406Gly LP/P - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073747 p.Arg406Gln US rs763807769 - ABCB4 P21439 VAR_073748 p.Asp459His LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073749 p.Val475Ala LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073750 p.Pro479Leu LP/P rs748657435 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073751 p.Leu481Arg LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073752 p.Asn510Ser LP/P rs375315619 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073753 p.Ala511Thr LP/P rs1257887155 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073753 p.Ala511Thr LP/P rs1257887155 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073754 p.Glu513Lys LP/P - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073755 p.Arg545His LP/P - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073756 p.Arg549His LP/P rs761238221 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073757 p.Glu558Lys LP/P rs1562975478 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073758 p.His589Thr LP/P - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073759 p.Thr593Ala LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073760 p.Thr593Met LP/P rs571555115 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073761 p.Met630Val LP/P rs372476723 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073762 p.Glu647Lys LP/P rs972726699 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073763 p.Leu701Pro LP/P rs988987669 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073764 p.Thr715Ile LP/P rs138773456 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073765 p.Gly723Glu LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073766 p.Pro726Leu LP/P rs141677867 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073767 p.Pro726Thr LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073768 p.Ser729Leu LP/P rs970324585 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073769 p.Ala737Val LP/P rs147134978 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073770 p.Ala840Asp LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073771 p.Gly954Ser LP/P rs779829759 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073772 p.Val964Thr US - - ABCB4 P21439 VAR_073773 p.Leu975Val LP/P rs759787957 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073774 p.Ser978Pro LP/P rs1051861187 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073775 p.Arg1084Trp LP/P rs1262922848 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073776 p.Glu1125Lys LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073777 p.Ala1193Thr LP/P - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_079611 p.Gly536Arg LP/P - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_079612 p.Ser1183Leu LP/P - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_079613 p.Gly1185Ser LP/P - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB5 Q2M3G0 VAR_028387 p.Lys560Glu LB/B rs2301641 - ABCB5 Q2M3G0 VAR_028388 p.Lys669Arg LB/B rs13222448 - ABCB5 Q2M3G0 VAR_028389 p.Ala915Thr LB/B rs17143304 - ABCB5 Q2M3G0 VAR_028390 p.Glu970Lys LB/B rs6461515 - ABCB5 Q2M3G0 VAR_033456 p.Gln905His LB/B rs35885925 - ABCB5 Q2M3G0 VAR_035731 p.Glu675Val US - A colorectal cancer sample ABCB5 Q2M3G0 VAR_062662 p.Ala880Thr US rs1187237313 A pancreatic ductal adenocarcinoma sample ABCB6 Q9NP58 VAR_029749 p.Arg648Gln LB/B rs13402964 - ABCB6 Q9NP58 VAR_035732 p.Arg69Gly US - A breast cancer sample ABCB6 Q9NP58 VAR_047552 p.Leu293Val LB/B rs13018440 - ABCB6 Q9NP58 VAR_060986 p.Arg343Gln LB/B rs60322991 - ABCB6 Q9NP58 VAR_067394 p.Ala57Thr US rs387906911 Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497] ABCB6 Q9NP58 VAR_067395 p.Leu811Val LP/P rs387906910 Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497] ABCB6 Q9NP58 VAR_070602 p.Ser170Gly LP/P rs397514757 Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402] ABCB6 Q9NP58 VAR_070603 p.Leu356Pro LP/P rs397514756 Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402] ABCB6 Q9NP58 VAR_070604 p.Gly579Glu LP/P rs397514758 Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402] ABCB6 Q9NP58 VAR_071133 p.Arg375Gln LP/P rs754667801 Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153] ABCB6 Q9NP58 VAR_071134 p.Arg375Trp LP/P rs764893806 Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153] ABCB6 Q9NP58 VAR_071135 p.Ala453Val LP/P - Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402] ABCB6 Q9NP58 VAR_071136 p.Gln555Lys LP/P rs796065353 Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402] ABCB6 Q9NP58 VAR_073973 p.Ser322Arg LP/P rs1574815954 Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402] ABCB6 Q9NP58 VAR_073974 p.Tyr424His LP/P - Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402] ABCB6 Q9NP58 VAR_076206 p.Arg723Gln LP/P rs148211042 Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153] ABCB6 Q9NP58 VAR_084494 p.Arg192Gln LB/B rs150221689 - ABCB6 Q9NP58 VAR_084495 p.Arg276Trp LB/B rs57467915 - ABCB6 Q9NP58 VAR_084496 p.Ala492Thr LB/B rs147445258 - ABCB6 Q9NP58 VAR_084497 p.Thr521Ser LB/B rs149363094 - ABCB6 Q9NP58 VAR_084498 p.Gly588Ser LB/B rs145526996 - ABCB6 Q9NP58 VAR_084499 p.Ala681Thr LB/B rs142421126 - ABCB7 O75027 VAR_009156 p.Ile400Met LP/P rs72554634 Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310] ABCB7 O75027 VAR_012640 p.Glu433Lys LP/P rs80356714 Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310] ABCB7 O75027 VAR_022872 p.Arg315Gly LB/B - - ABCB7 O75027 VAR_022873 p.Phe346Ile LB/B - - ABCB7 O75027 VAR_022874 p.Val411Leu LP/P rs80356713 Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310] ABCB7 O75027 VAR_037972 p.Val581Ala LB/B rs1340989 - ABCB7 O75027 VAR_055471 p.Ala580Val LB/B rs1340989 - ABCB7 O75027 VAR_067354 p.Glu208Asp LP/P rs515726147 Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310] ABCB8 Q9NUT2 VAR_013331 p.Val152Ile LB/B rs4148844 - ABCB8 Q9NUT2 VAR_035733 p.Ile165Thr US - A breast cancer sample ABCB8 Q9NUT2 VAR_035734 p.Ala690Gly US - A breast cancer sample ABCB9 Q9NP78 VAR_013701 p.Val121Met LB/B rs3803002 - ABCC1 P33527 VAR_011488 p.Arg633Gln LB/B rs112282109 - ABCC1 P33527 VAR_011489 p.Gly671Val LB/B rs45511401 - ABCC1 P33527 VAR_013317 p.Cys43Ser LB/B rs41395947 - ABCC1 P33527 VAR_013318 p.Thr73Ile LB/B rs41494447 - ABCC1 P33527 VAR_013319 p.Met117Thr LB/B - - ABCC1 P33527 VAR_013320 p.Arg433Ser LB/B rs60782127 - ABCC1 P33527 VAR_013321 p.Arg723Gln LB/B rs4148356 - ABCC1 P33527 VAR_013322 p.Arg1058Gln LB/B rs41410450 - ABCC1 P33527 VAR_013323 p.Ser1512Leu LB/B rs369410659 - ABCC1 P33527 VAR_055384 p.Ala861Thr LB/B rs45517537 - ABCC1 P33527 VAR_055385 p.Cys1047Ser LB/B rs13337489 - ABCC1 P33527 VAR_055386 p.Val1146Ile LB/B rs28706727 - ABCC1 P33527 VAR_083988 p.Gly231Asp US - Deafness, autosomal dominant, 77 (DFNA77) [MIM:618915] ABCC1 P33527 VAR_083989 p.Trp242Cys LB/B - - ABCC1 P33527 VAR_083990 p.Glu296Val US - Deafness, autosomal dominant, 77 (DFNA77) [MIM:618915] ABCC1 P33527 VAR_083991 p.Asn590Ser LP/P - Deafness, autosomal dominant, 77 (DFNA77) [MIM:618915] ABCC1 P33527 VAR_083992 p.Val886Ile LB/B - - ABCC1 P33527 VAR_083993 p.Gly1007Arg LB/B - - ABCC1 P33527 VAR_083994 p.Met1086Thr LB/B - - ABCC10 Q5T3U5 VAR_028391 p.Ile948Thr LB/B rs2125739 - ABCC11 Q96J66 VAR_025437 p.Arg19His LB/B rs16945988 - ABCC11 Q96J66 VAR_025438 p.Gly180Arg LB/B rs17822931 - ABCC11 Q96J66 VAR_048144 p.Ala317Glu LB/B rs11863236 - ABCC11 Q96J66 VAR_048145 p.Thr546Met LB/B rs17822471 - ABCC11 Q96J66 VAR_048146 p.Val648Ile LB/B rs16945930 - ABCC11 Q96J66 VAR_048147 p.Val687Ile LB/B rs16945928 - ABCC11 Q96J66 VAR_048148 p.Lys735Arg LB/B rs16945926 - ABCC11 Q96J66 VAR_048149 p.His1344Arg LB/B rs16945916 - ABCC11 Q96J66 VAR_077575 p.Arg630Trp LB/B rs41282045 - ABCC11 Q96J66 VAR_077576 p.Met970Val LB/B rs41280943 - ABCC12 Q96J65 VAR_028392 p.Ile9Leu LB/B rs16945901 - ABCC12 Q96J65 VAR_028393 p.Ala102Glu LB/B rs16945874 - ABCC12 Q96J65 VAR_028394 p.Asn587Tyr LB/B rs16945816 - ABCC12 Q96J65 VAR_028395 p.Lys894Met LB/B rs8057474 - ABCC12 Q96J65 VAR_028396 p.Thr989Ser LB/B rs6500305 - ABCC12 Q96J65 VAR_028397 p.Tyr1013His LB/B rs6500304 - ABCC12 Q96J65 VAR_028398 p.Arg1117Cys LB/B rs7193955 - ABCC12 Q96J65 VAR_028399 p.Glu1191Ala LB/B rs16945787 - ABCC12 Q96J65 VAR_028400 p.Phe1349Leu LB/B rs12373105 - ABCC12 Q96J65 VAR_048139 p.Glu690Val LB/B rs34135219 - ABCC12 Q96J65 VAR_048140 p.Ile1187Thr LB/B rs34106426 - ABCC2 Q92887 VAR_000099 p.Arg768Trp LP/P rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500] ABCC2 Q92887 VAR_010756 p.Gln1382Arg LP/P rs72558202 Dubin-Johnson syndrome (DJS) [MIM:237500] ABCC2 Q92887 VAR_013324 p.Ser281Asn LB/B rs56131651 - ABCC2 Q92887 VAR_013325 p.Val417Ile LB/B rs2273697 - ABCC2 Q92887 VAR_013326 p.Ser789Phe LB/B rs56220353 - ABCC2 Q92887 VAR_013327 p.Arg1150His LP/P rs72558200 Dubin-Johnson syndrome (DJS) [MIM:237500] ABCC2 Q92887 VAR_013328 p.Ile1173Phe LP/P rs72558201 Dubin-Johnson syndrome (DJS) [MIM:237500] ABCC2 Q92887 VAR_013330 p.Ala1450Thr LB/B rs56296335 - ABCC2 Q92887 VAR_020226 p.Asp333Gly LB/B rs17222674 - ABCC2 Q92887 VAR_020227 p.Arg353His LB/B rs7080681 - ABCC2 Q92887 VAR_020228 p.Ile670Thr LB/B rs17222632 - ABCC2 Q92887 VAR_020229 p.Leu849Arg LB/B rs17222617 - ABCC2 Q92887 VAR_020230 p.Ile1036Thr LB/B rs45441199 - ABCC2 Q92887 VAR_020231 p.Arg1181Leu LB/B rs8187692 - ABCC2 Q92887 VAR_020232 p.Val1188Glu LB/B rs17222723 - ABCC2 Q92887 VAR_020233 p.Pro1291Leu LB/B rs17216317 - ABCC2 Q92887 VAR_020234 p.Cys1515Tyr LB/B rs8187710 - ABCC2 Q92887 VAR_024360 p.Thr1273Ala LB/B rs8187699 - ABCC2 Q92887 VAR_029113 p.Met246Leu LB/B rs17222744 - ABCC2 Q92887 VAR_029115 p.Lys495Glu LB/B rs17222561 - ABCC2 Q92887 VAR_029116 p.Phe562Leu LB/B rs17216233 - ABCC2 Q92887 VAR_029117 p.Ile982Val LB/B rs17222554 - ABCC2 Q92887 VAR_029118 p.Asn1063Ser LB/B rs17222540 - ABCC2 Q92887 VAR_047152 p.Tyr39Phe LB/B rs927344 - ABCC2 Q92887 VAR_070607 p.Thr486Ile LB/B rs17222589 - ABCC2 Q92887 VAR_070608 p.Gly921Ser LB/B rs41318029 - ABCC2 Q92887 VAR_070609 p.Arg1174His LB/B rs139188247 - ABCC2 Q92887 VAR_070610 p.Asn1244Lys LB/B rs757141905 - ABCC3 O15438 VAR_020235 p.Ser346Phe LB/B rs11568605 - ABCC3 O15438 VAR_020237 p.Arg1297His LB/B rs11568591 - ABCC3 O15438 VAR_020239 p.Gln1365Arg LB/B rs11568590 - ABCC3 O15438 VAR_020240 p.Arg1381Ser LB/B rs45461799 - ABCC3 O15438 VAR_029119 p.Gly11Asp LB/B rs11568609 - ABCC3 O15438 VAR_029120 p.Arg1286Gly LB/B rs11568593 - ABCC3 O15438 VAR_084161 p.Leu548Gln LB/B rs144520783 - ABCC4 O15439 VAR_020241 p.Met184Thr LB/B rs45454092 - ABCC4 O15439 VAR_020242 p.Gly187Trp LB/B rs11568658 - ABCC4 O15439 VAR_020243 p.Lys498Glu LB/B rs11568669 - ABCC4 O15439 VAR_020244 p.Met744Val LB/B rs9282570 - ABCC4 O15439 VAR_020245 p.Val860Met LB/B rs45477596 - ABCC4 O15439 VAR_020246 p.Val900Leu LB/B rs45504892 - ABCC4 O15439 VAR_022072 p.Lys304Asn LB/B rs2274407 - ABCC4 O15439 VAR_022073 p.Glu757Lys LB/B rs3765534 - ABCC4 O15439 VAR_029121 p.Pro78Ala LB/B rs11568689 - ABCC4 O15439 VAR_029122 p.Pro403Leu LB/B rs11568705 - ABCC4 O15439 VAR_029123 p.Gly487Glu LB/B rs11568668 - ABCC4 O15439 VAR_029124 p.Ile625Met LB/B rs11568699 - ABCC4 O15439 VAR_029125 p.Pro667Leu LB/B rs11568697 - ABCC4 O15439 VAR_029126 p.Thr1142Met LB/B rs11568644 - ABCC4 O15439 VAR_045684 p.Tyr556Cys LB/B rs753414892 - ABCC4 O15439 VAR_045685 p.Val776Ile LB/B rs146708960 - ABCC4 O15439 VAR_045686 p.Arg820Ile LB/B rs11568659 - ABCC4 O15439 VAR_045687 p.Val854Phe LB/B rs11568694 - ABCC4 O15439 VAR_045688 p.Ile866Val LB/B rs139970608 - ABCC4 O15439 VAR_046445 p.Leu18Ile LB/B rs11568681 - ABCC4 O15439 VAR_046446 p.Cys171Gly LB/B rs4148460 - ABCC4 O15439 VAR_046447 p.Lys293Glu LB/B rs11568684 - ABCC4 O15439 VAR_046448 p.Thr356Met LB/B rs11568701 - ABCC6 O95255 VAR_011490 p.Val614Ala LB/B rs12931472 - ABCC6 O95255 VAR_011491 p.Arg1114Pro LP/P rs63750427 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_011492 p.Arg1138Gln LP/P rs60791294 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_011493 p.Arg1138Trp LP/P rs28939701 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_011494 p.Arg1268Gln LB/B rs2238472 - ABCC6 O95255 VAR_011495 p.Arg1314Trp LP/P rs63750759 Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473] ABCC6 O95255 VAR_011495 p.Arg1314Trp LP/P rs63750759 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013364 p.Gly61Asp LB/B rs72657696 - ABCC6 O95255 VAR_013365 p.Arg64Trp LB/B rs557180313 - ABCC6 O95255 VAR_013366 p.Gly207Arg LB/B rs72657697 - ABCC6 O95255 VAR_013367 p.Arg265Gly LB/B rs72657698 - ABCC6 O95255 VAR_013368 p.Lys281Glu LB/B rs879274205 - ABCC6 O95255 VAR_013369 p.Ile319Val LB/B rs72657699 - ABCC6 O95255 VAR_013370 p.Thr364Arg LP/P rs72653759 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013371 p.Asn411Lys US rs9930886 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013372 p.Ala455Pro LP/P rs67996819 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013373 p.Asn497Lys LB/B rs72653770 - ABCC6 O95255 VAR_013374 p.Arg518Gln LP/P rs72653772 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013375 p.Phe568Ser LP/P rs66864704 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013376 p.His632Gln LB/B rs8058694 - ABCC6 O95255 VAR_013377 p.Leu673Pro LP/P rs67470842 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013378 p.Arg765Gln LP/P rs67561842 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013379 p.Leu953His LB/B rs72657700 - ABCC6 O95255 VAR_013380 p.Ser1121Trp LP/P rs63750987 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013381 p.Arg1138Pro LP/P rs60791294 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013382 p.Gly1203Asp LP/P rs63750607 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013383 p.Trp1241Cys LB/B rs72657701 - ABCC6 O95255 VAR_013384 p.Val1298Phe LP/P rs63751325 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013385 p.Thr1301Ile LP/P rs63750494 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013386 p.Gly1302Arg LP/P rs63749856 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013387 p.Ala1303Pro LP/P rs63750410 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013388 p.Arg1314Gln LP/P rs63751086 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013389 p.Gly1321Ser LP/P rs63749823 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013390 p.Arg1339Cys LP/P rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013391 p.Gln1347His LP/P rs63751111 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013392 p.Gly1354Arg LP/P rs63750018 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013393 p.Asp1361Asn LP/P rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013394 p.Ile1424Thr LP/P rs63750295 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_055477 p.Val665Ala LB/B rs4341770 - ABCC6 O95255 VAR_059108 p.Met848Val LB/B rs6416668 - ABCC6 O95255 VAR_060988 p.Leu1097Ile LB/B rs60707953 - ABCC6 O95255 VAR_067841 p.Ala78Thr LP/P rs2856597 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067842 p.Glu125Lys LP/P rs879956688 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067843 p.Gly129Glu LP/P rs72653753 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067844 p.Ala158Val LB/B rs2606921 - ABCC6 O95255 VAR_067845 p.Ser317Arg LP/P rs78678589 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067846 p.Leu355Arg LP/P rs72653758 Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473] ABCC6 O95255 VAR_067846 p.Leu355Arg LP/P rs72653758 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067848 p.Asn370Asp LP/P rs72653760 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067849 p.Arg382Trp LP/P rs72653761 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067850 p.Arg391Gly LP/P rs72653762 Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473] ABCC6 O95255 VAR_067850 p.Arg391Gly LP/P rs72653762 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067851 p.Lys392Asn LP/P rs72653763 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067852 p.Ser398Gly LP/P rs72653764 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067853 p.Val417Met LB/B rs768869262 - ABCC6 O95255 VAR_067854 p.Cys440Gly LP/P rs72653766 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067855 p.Leu463His US rs72653767 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067856 p.Leu495His LP/P rs72653769 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067857 p.Val514Ile LB/B rs59157279 - ABCC6 O95255 VAR_067858 p.Ser535Pro LP/P rs72653773 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067859 p.Phe551Ser LP/P rs72653774 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067860 p.Ser590Phe LP/P rs537233133 Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473] ABCC6 O95255 VAR_067861 p.Ala594Val LP/P rs72653776 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067862 p.Arg600Cys LP/P rs72653777 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067863 p.Gly663Cys LP/P rs72653780 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067864 p.Leu677Pro LP/P rs72653782 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067865 p.Gln698Pro LP/P rs72653783 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067866 p.Glu699Asp LP/P rs72653784 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067867 p.Arg724Lys LB/B rs58073789 - ABCC6 O95255 VAR_067868 p.Arg724Leu LB/B - - ABCC6 O95255 VAR_067869 p.Leu726Pro LP/P rs72653785 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067870 p.Ile742Val LB/B rs59593133 - ABCC6 O95255 VAR_067871 p.Met751Lys LP/P rs72653786 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067872 p.Gly755Arg LP/P rs72653787 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067873 p.Arg760Trp LP/P rs72653788 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067874 p.Ala766Asp LP/P rs72653789 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067875 p.Asp777Asn LP/P rs72653790 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067876 p.Arg807Gln LP/P rs72653794 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067877 p.Arg807Trp LP/P rs72653793 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067878 p.Val810Met LP/P rs72653795 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067879 p.Thr811Met LP/P rs72653796 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067880 p.Ala820Pro LP/P rs72653797 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067881 p.Arg881Ser LP/P rs72653800 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067882 p.Thr944Ile LP/P rs72653801 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067883 p.Leu946Ile LB/B rs61340537 - ABCC6 O95255 VAR_067884 p.Ala950Thr LP/P rs72657689 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067885 p.Gly992Arg LP/P rs72657692 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067888 p.Asp1056Glu LP/P rs72657694 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067889 p.Arg1064Trp LB/B rs41278174 - ABCC6 O95255 VAR_067890 p.Arg1114Cys LP/P rs63749794 Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473] ABCC6 O95255 VAR_067890 p.Arg1114Cys LP/P rs63749794 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067891 p.Ser1121Leu LP/P rs63750987 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067892 p.Thr1130Met LP/P rs63750459 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067893 p.Gly1133Ala LP/P rs63750473 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067894 p.Ala1139Thr LP/P rs63750146 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067895 p.Arg1164Gln LP/P rs63750457 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067896 p.Arg1221Cys LP/P rs63751215 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067897 p.Arg1221His LP/P rs63751001 Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473] ABCC6 O95255 VAR_067898 p.Leu1226Ile LP/P rs63750125 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067899 p.Arg1235Trp LP/P rs63750402 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067900 p.Asp1238His LP/P rs63749796 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067901 p.Leu1335Pro LP/P rs63750414 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067902 p.Leu1335Gln LP/P rs63750414 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067903 p.Arg1339Leu LP/P rs63750622 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067904 p.Arg1339His LP/P rs63750622 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067905 p.Pro1346Ser LP/P rs63751112 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067906 p.Arg1357Trp LP/P rs63750428 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067907 p.Glu1400Lys LP/P rs63751241 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067908 p.Gln1406Lys LP/P rs387906859 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067909 p.Arg1459Cys LP/P rs72547524 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_072803 p.Pro4His US rs1555523872 - ABCC6 O95255 VAR_072804 p.Ala9Glu US rs1555523855 - ABCC6 O95255 VAR_072805 p.Pro21Ser US rs1235912910 - ABCC6 O95255 VAR_072806 p.Arg64Gln US rs777566074 - ABCC6 O95255 VAR_072807 p.Ala90Thr US rs957828732 - ABCC6 O95255 VAR_072808 p.Arg419Gln US rs772434460 - ABCC6 O95255 VAR_072809 p.Leu605Pro US rs768271196 - ABCC6 O95255 VAR_072810 p.Glu709Gly US rs1555513103 - ABCC6 O95255 VAR_072811 p.Met834Thr US rs1355752953 - ABCC6 O95255 VAR_072812 p.Leu948Pro US rs1555510407 - ABCC6 O95255 VAR_072813 p.Ala1442Thr US rs1462269230 - ABCC8 Q09428 VAR_000100 p.Gly716Val LP/P rs72559723 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008537 p.Arg1352Pro LP/P rs28936370 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008539 p.Arg1420Cys LP/P rs28938469 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008540 p.Arg1493Trp LP/P rs28936371 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008639 p.Arg74Gln LP/P rs72559734 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008640 p.His125Gln LP/P rs60637558 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008641 p.Val187Asp LP/P rs137852672 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008642 p.Asn188Ser LP/P rs797045213 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008643 p.Arg275Gln LB/B rs185040406 - ABCC8 Q09428 VAR_008644 p.Asn406Asp LP/P rs72559728 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008645 p.Val560Met LB/B rs4148619 - ABCC8 Q09428 VAR_008646 p.Phe591Leu LP/P rs72559726 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008647 p.Asp810Asn LB/B rs767572066 - ABCC8 Q09428 VAR_008648 p.Arg834Cys LB/B rs140068774 - ABCC8 Q09428 VAR_008649 p.Thr1138Met LP/P rs201351976 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008650 p.Arg1214Gln LP/P rs367850779 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008651 p.Val1360Gly LB/B - - ABCC8 Q09428 VAR_008652 p.Ala1369Ser LB/B rs757110 - ABCC8 Q09428 VAR_008653 p.Gly1378Arg LP/P rs925231098 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008654 p.Gly1381Ser LP/P rs773448052 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008655 p.Arg1393His LP/P rs769279368 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008656 p.Gly1478Arg LP/P rs72559715 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008658 p.Val1572Ile LB/B rs8192690 - ABCC8 Q09428 VAR_015006 p.Asp673Asn LB/B rs777986828 - ABCC8 Q09428 VAR_015007 p.Val1360Met LP/P rs1953962707 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_015008 p.Arg1436Gln LP/P rs387906407 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_015009 p.Glu1506Lys LP/P rs137852671 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_015010 p.Leu1543Pro LP/P rs72559713 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_029777 p.Leu104Val LB/B rs10400391 - ABCC8 Q09428 VAR_029778 p.Phe132Leu LP/P rs80356637 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_029779 p.Leu213Arg LP/P rs80356642 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_029780 p.Cys435Arg LP/P - Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374] ABCC8 Q09428 VAR_029781 p.Leu582Val LP/P rs137852674 Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374] ABCC8 Q09428 VAR_029782 p.His1023Tyr LP/P - Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374] ABCC8 Q09428 VAR_029783 p.Arg1182Gln LP/P rs193922400 Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374] ABCC8 Q09428 VAR_029784 p.Arg1352His LP/P rs28936370 Leucine-induced hypoglycemia (LIH) [MIM:240800] ABCC8 Q09428 VAR_029785 p.Arg1379Cys LP/P rs137852673 Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374] ABCC8 Q09428 VAR_029787 p.Ile1424Val LP/P rs80356653 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_031349 p.Gly7Arg LP/P rs781059815 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031350 p.Val21Asp LP/P rs200670692 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031351 p.Phe27Ser LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031352 p.Gly70Glu LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031353 p.Arg74Trp LP/P rs201682634 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031354 p.Val86Ala LP/P rs193929360 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_031355 p.Gly111Arg LP/P rs761749884 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031356 p.Ala116Pro LP/P rs72559731 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031357 p.Met233Arg LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031358 p.Asp310Asn LP/P rs769569410 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031359 p.Cys418Arg LP/P rs67254669 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031360 p.Arg495Gln LP/P rs1420601296 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031361 p.Glu501Lys LP/P rs372307320 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031362 p.Leu503Pro LP/P rs1554933168 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031363 p.Leu508Pro LP/P rs72559727 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031364 p.Pro551Arg LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031365 p.Arg620Cys LP/P rs58241708 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031366 p.Phe686Ser LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031367 p.Lys719Thr LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031368 p.Arg841Gly LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031369 p.Lys889Thr LP/P rs761862121 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031370 p.Ser956Phe LP/P rs72559721 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031371 p.Thr1130Pro LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031372 p.Leu1147Arg LP/P rs1262517518 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031373 p.Arg1214Trp LP/P rs139964066 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031374 p.Asn1295Lys LP/P rs542157938 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031375 p.Lys1336Asn LP/P rs67767715 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031376 p.Gly1342Glu LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031377 p.Leu1349Gln LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031378 p.Lys1384Gln LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031379 p.Ser1386Phe LP/P rs72559718 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031380 p.Gly1400Arg LP/P rs137852676 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_031380 p.Gly1400Arg LP/P rs137852676 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031381 p.Arg1418His LP/P rs1446306735 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031382 p.Leu1450Pro LP/P rs1554904565 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031383 p.Ala1457Thr LP/P rs72559717 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031384 p.Asp1471His LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031385 p.Asp1471Asn LP/P rs72559716 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031386 p.Arg1486Lys LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031387 p.Arg1493Gln LP/P rs746480424 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031388 p.Val1550Asp LP/P rs1221760584 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031389 p.Leu1551Val LP/P rs1320740169 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072928 p.Pro45Leu LP/P rs267606623 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072929 p.Asn72Ser US rs80356634 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072930 p.Val86Gly LP/P rs193929360 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072931 p.Phe132Val LP/P rs80356637 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072932 p.Pro207Ser LP/P - Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072933 p.Glu208Lys LP/P - Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072934 p.Asp209Glu LP/P rs80356640 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072935 p.Gln211Lys LP/P rs193929366 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072936 p.Leu225Pro LP/P rs1048095 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072937 p.Thr229Ile US rs768017509 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072938 p.Tyr263Asp LP/P rs778892038 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072939 p.Glu382Lys US rs80356651 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072940 p.Leu511Met LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072941 p.Gly716Asp LP/P rs72559723 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072942 p.Glu824Lys LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072943 p.Leu890Pro LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072944 p.Ala1184Glu US rs137852675 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072945 p.Glu1326Lys US rs200563930 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072946 p.Gly1378Ser LP/P rs925231098 Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072947 p.Ser1388Tyr LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072948 p.Leu1389Pro LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072949 p.Ala1457Val LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072950 p.Asn1480Ile LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072951 p.Asp1505Glu LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072952 p.Ile1511Ser LP/P - Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_088691 p.Val1523Ala US - Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_088692 p.Val1523Leu US - Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC9 O60706 VAR_018483 p.Ala1513Thr LP/P rs72559751 Cardiomyopathy, dilated, 1O (CMD1O) [MIM:608569] ABCC9 O60706 VAR_048143 p.Pro1108Ser LB/B rs35404804 - ABCC9 O60706 VAR_066210 p.Thr1547Ile LP/P rs387906805 Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050] ABCC9 O60706 VAR_068485 p.His60Tyr LP/P rs387907230 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068486 p.Asp207Glu LP/P - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068487 p.Gly380Cys LP/P rs1165205076 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068488 p.Pro432Leu LP/P - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068489 p.Ala478Val LP/P rs387907211 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068490 p.Ser1020Pro LP/P rs387907229 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068491 p.Phe1039Ser LP/P - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068492 p.Cys1043Tyr LP/P rs387907210 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068493 p.Ser1054Tyr LP/P - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068494 p.Arg1116Cys LP/P rs387907228 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068495 p.Arg1116His LP/P rs387907227 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068496 p.Arg1154Gln LP/P rs387907209 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068497 p.Arg1154Trp LP/P rs387907208 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_083082 p.Leu1160Arg LB/B rs780799175 - ABCD1 P33897 VAR_000024 p.Ser98Leu LP/P rs1557052294 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000025 p.Arg104Cys LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000026 p.Arg104His LP/P rs1557052302 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000027 p.Thr105Ile LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000028 p.Leu107Pro LP/P rs1569540688 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000029 p.Ser108Trp LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000030 p.Gly116Arg LP/P rs398123110 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000033 p.Ala141Thr LP/P rs193922097 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000034 p.Asn148Ser LP/P rs128624216 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000035 p.Ser149Asn LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000037 p.Arg152Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000038 p.Arg163His LP/P rs1057517954 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000039 p.Tyr174Asp LP/P rs128624217 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000040 p.Tyr174Ser LP/P rs1557052390 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000041 p.Gln178Glu LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000043 p.Arg182Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000044 p.Asp194His LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000045 p.Asp200Val LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000046 p.Leu211Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000047 p.Leu220Pro LP/P rs2091709142 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000048 p.Asp221Gly LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000049 p.Thr254Met LP/P rs1131691743 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000050 p.Thr254Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000051 p.Pro263Leu LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000052 p.Gly266Arg LP/P rs128624218 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000053 p.Lys276Glu LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000054 p.Gly277Arg LP/P rs1603232195 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000056 p.Gly277Trp LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000057 p.Glu291Asp LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000058 p.Glu291Lys LP/P rs128624213 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000060 p.Ala294Thr LP/P rs1131691954 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000061 p.Ser342Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000062 p.Arg389Gly LP/P rs128624215 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000063 p.Arg389His LP/P rs886044777 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000064 p.Arg401Gln LP/P rs128624219 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000065 p.Arg418Trp LP/P rs128624220 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000066 p.Pro484Arg LP/P rs128624214 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000067 p.Gly507Val LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000068 p.Gly512Ser LP/P rs1569541088 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000069 p.Ser515Phe LP/P rs128624223 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000070 p.Arg518Gln LP/P rs398123102 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000071 p.Arg518Trp LP/P rs128624224 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000072 p.Gly522Trp LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000074 p.Pro534Leu LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000075 p.Pro560Leu LP/P rs398123105 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000076 p.Pro560Arg LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000077 p.Met566Lys LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000078 p.Arg591Gln LP/P rs1557054873 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000079 p.Ser606Leu LP/P rs128624225 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000080 p.Ser606Pro US rs201774661 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000081 p.Glu609Gly LP/P rs1557055260 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000082 p.Glu609Lys LP/P rs150346282 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000083 p.Arg617Cys LP/P rs4010613 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000084 p.Arg617Gly LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000085 p.Arg617His LP/P rs11146842 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000086 p.Ala626Thr LP/P rs1557055316 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000087 p.Asp629His LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000089 p.Arg660Trp LP/P rs1569541203 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000090 p.Trp679Arg LP/P rs1557055405 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009349 p.Glu90Lys LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009350 p.Ser103Arg LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009351 p.Thr105Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009352 p.Ser108Leu LP/P rs2091705631 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009353 p.Arg113Cys LP/P rs1557052306 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009354 p.Pro143Ser LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009355 p.Arg152Leu LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009356 p.Arg152Ser LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009357 p.Ser161Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009358 p.Arg163Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009359 p.Tyr174Cys LP/P rs1557052390 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009360 p.Arg189Trp LP/P rs1131691916 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009361 p.Leu190Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009362 p.Thr198Lys LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009363 p.Asp200Asn LP/P rs2091708688 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009364 p.Ser213Cys LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009365 p.Asn214Asp LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009366 p.Pro218Thr LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009367 p.Leu229Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009368 p.Glu271Lys LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009369 p.Arg285Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009370 p.Tyr296Cys LP/P rs797044610 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009371 p.Gly298Asp LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009372 p.Glu302Lys LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009373 p.Leu322Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009374 p.Lys336Met LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009375 p.Arg401Trp LP/P rs727503786 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009376 p.Gly529Ser LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009377 p.Phe540Ser LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009378 p.Pro543Leu LP/P rs1557054776 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009379 p.Gln544Arg LP/P rs2091763089 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009380 p.Ser552Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009381 p.Arg554His LP/P rs201568579 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009382 p.Arg591Trp LP/P rs398123106 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009383 p.Ala616Val LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009384 p.Glu630Gly LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009385 p.Cys631Tyr LP/P rs2091773525 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009386 p.Ser633Arg LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009387 p.Ser636Ile LP/P rs2091773697 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009388 p.Asp638Tyr LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009389 p.Ala646Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009390 p.Leu654Pro LP/P rs2091774046 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009391 p.His667Asp LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009392 p.Thr668Ile LP/P rs1557055398 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009393 p.Thr693Met LP/P rs782311214 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013340 p.Asn13Thr LB/B rs183021839 - ABCD1 P33897 VAR_013341 p.Ala99Asp LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013342 p.Arg113Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013344 p.Lys217Glu LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013345 p.Val224Glu LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013346 p.Arg274Trp US rs782760033 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013347 p.Arg280Cys LP/P rs193922098 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013349 p.Trp339Arg LP/P rs1603233120 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013350 p.Gly343Asp LP/P rs2091726809 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013352 p.Gln556Arg LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013353 p.Pro560Ser LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013354 p.Arg591Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013355 p.Gly608Asp US rs78993751 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013356 p.Ala626Asp LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013357 p.Thr632Ile LP/P rs1064793877 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013358 p.Ser633Ile LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013359 p.Val635Met LP/P rs201427153 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013360 p.Arg660Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067240 p.Thr198Arg LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067241 p.Gly266Glu LP/P rs2091711094 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067242 p.Leu523Phe LP/P rs1159943880 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067243 p.Phe540Cys LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067244 p.Thr632Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067245 p.Glu640Lys LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067246 p.Gly677Asp LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067328 p.Leu516Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067329 p.Arg660Gln LP/P rs1557055340 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_075284 p.Ala95Asp LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_075285 p.Gln316Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD2 Q9UBJ2 VAR_062664 p.Gln244Lys US - A pancreatic ductal adenocarcinoma sample ABCD3 P28288 VAR_000091 p.Gly17Asp LB/B rs121917999 - ABCD4 O14678 VAR_020222 p.Glu368Lys LB/B rs3742801 - ABCD4 O14678 VAR_020778 p.Ala304Thr LB/B rs4148077 - ABCD4 O14678 VAR_048134 p.Val172Ile LB/B rs34992370 - ABCD4 O14678 VAR_048135 p.Thr350Arg LB/B rs35073715 - ABCD4 O14678 VAR_069097 p.Tyr319Cys LP/P rs201777056 Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857] ABCD4 O14678 VAR_084972 p.Asn141Lys LP/P rs776529140 Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857] ABCD4 O14678 VAR_084973 p.Arg432Gln LP/P rs745414252 Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857] ABCE1 P61221 VAR_068914 p.Ser489Cys LB/B rs3816497 - ABCF1 Q8NE71 VAR_048136 p.Asn198Asp LB/B rs6902544 - ABCF3 Q9NUQ8 VAR_027247 p.Pro503Leu LB/B rs11706273 - ABCF3 Q9NUQ8 VAR_027248 p.Arg510His LB/B rs9811715 - ABCG1 P45844 VAR_012279 p.Phe668Leu LB/B - - ABCG2 Q9UNQ0 VAR_018349 p.Phe431Leu LB/B - - ABCG2 Q9UNQ0 VAR_018350 p.Phe489Leu LB/B rs192169063 - ABCG2 Q9UNQ0 VAR_020779 p.Val12Met LB/B rs2231137 - ABCG2 Q9UNQ0 VAR_020780 p.Gln141Lys LB/B rs2231142 - ABCG2 Q9UNQ0 VAR_022443 p.Thr316Pro LB/B - - ABCG2 Q9UNQ0 VAR_022704 p.Gln166Glu LB/B rs1061017 - ABCG2 Q9UNQ0 VAR_022705 p.Ile206Leu LB/B rs12721643 - ABCG2 Q9UNQ0 VAR_022706 p.Phe208Ser LB/B rs1061018 - ABCG2 Q9UNQ0 VAR_022707 p.Ser248Pro LB/B rs3116448 - ABCG2 Q9UNQ0 VAR_022708 p.Phe571Ile LB/B rs9282571 - ABCG2 Q9UNQ0 VAR_022709 p.Asp620Asn LB/B rs34783571 - ABCG2 Q9UNQ0 VAR_030357 p.Asp296His LB/B rs41282401 - ABCG2 Q9UNQ0 VAR_030358 p.Ala528Thr LB/B rs45605536 - ABCG2 Q9UNQ0 VAR_035355 p.Asn590Tyr LB/B rs34264773 - ABCG2 Q9UNQ0 VAR_067363 p.Ser13Leu LB/B rs1319203095 - ABCG2 Q9UNQ0 VAR_067364 p.Arg160Gln LB/B rs528655917 - ABCG2 Q9UNQ0 VAR_067365 p.Gly354Arg LB/B rs138606116 - ABCG2 Q9UNQ0 VAR_067366 p.Ser441Asn LB/B rs1354553769 - ABCG2 Q9UNQ0 VAR_082302 p.Arg147Trp LB/B rs372192400 - ABCG2 Q9UNQ0 VAR_082303 p.Thr153Met LB/B rs753759474 - ABCG2 Q9UNQ0 VAR_082305 p.Phe373Cys LB/B rs752626614 - ABCG2 Q9UNQ0 VAR_082306 p.Thr421Ala LB/B rs199854112 - ABCG2 Q9UNQ0 VAR_082307 p.Thr434Met LB/B rs769734146 - ABCG2 Q9UNQ0 VAR_082308 p.Ser476Pro LB/B rs1274428653 - ABCG2 Q9UNQ0 VAR_082309 p.Ser572Arg LB/B rs200894058 - ABCG4 Q9H172 VAR_048141 p.Pro352Leu LB/B rs35060365 - ABCG5 Q9H222 VAR_012244 p.Glu146Gln LP/P rs758551848 Sitosterolemia 2 (STSL2) [MIM:618666] ABCG5 Q9H222 VAR_012245 p.Arg389His LP/P rs119480069 Sitosterolemia 2 (STSL2) [MIM:618666] ABCG5 Q9H222 VAR_012246 p.Arg419His LP/P rs119479067 Sitosterolemia 2 (STSL2) [MIM:618666] ABCG5 Q9H222 VAR_012247 p.Arg419Pro LP/P rs119479067 Sitosterolemia 2 (STSL2) [MIM:618666] ABCG5 Q9H222 VAR_012248 p.Arg550Ser LP/P - Sitosterolemia 2 (STSL2) [MIM:618666] ABCG5 Q9H222 VAR_012249 p.Gln604Glu LB/B rs6720173 - ABCG5 Q9H222 VAR_020781 p.Asn437Lys LP/P rs575266356 Sitosterolemia 2 (STSL2) [MIM:618666] ABCG5 Q9H222 VAR_020782 p.Ile523Val LB/B rs140899003 - ABCG5 Q9H222 VAR_020783 p.Cys600Tyr LB/B rs779109455 - ABCG5 Q9H222 VAR_020784 p.Met622Val LB/B rs140374206 - ABCG5 Q9H222 VAR_033457 p.Thr517Ser LB/B rs17031672 - ABCG5 Q9H222 VAR_048142 p.Arg50Cys LB/B rs6756629 - ABCG5 Q9H222 VAR_086593 p.Met99Arg US - Sitosterolemia 2 (STSL2) [MIM:618666] ABCG8 Q9H221 VAR_012250 p.Asp19His LB/B rs11887534 - ABCG8 Q9H221 VAR_012251 p.Tyr54Cys LB/B rs4148211 - ABCG8 Q9H221 VAR_012252 p.Arg184His LP/P rs766212636 Sitosterolemia 1 (STSL1) [MIM:210250] ABCG8 Q9H221 VAR_012253 p.Pro231Thr LP/P rs137852993 Sitosterolemia 1 (STSL1) [MIM:210250] ABCG8 Q9H221 VAR_012254 p.Glu238Lys US rs34754243 Sitosterolemia 1 (STSL1) [MIM:210250] ABCG8 Q9H221 VAR_012255 p.Ala259Val LB/B rs35518570 - ABCG8 Q9H221 VAR_012256 p.Arg263Gln LP/P rs137852990 Sitosterolemia 1 (STSL1) [MIM:210250] ABCG8 Q9H221 VAR_012257 p.Thr400Lys LB/B rs4148217 - ABCG8 Q9H221 VAR_012258 p.Arg405His LP/P rs1177309800 Sitosterolemia 1 (STSL1) [MIM:210250] ABCG8 Q9H221 VAR_012259 p.Leu501Pro LP/P rs1233989408 Sitosterolemia 1 (STSL1) [MIM:210250] ABCG8 Q9H221 VAR_012260 p.Arg543Ser LP/P rs201690654 Sitosterolemia 1 (STSL1) [MIM:210250] ABCG8 Q9H221 VAR_012262 p.Leu572Pro LP/P rs769576789 Sitosterolemia 1 (STSL1) [MIM:210250] ABCG8 Q9H221 VAR_012263 p.Gly574Glu LP/P rs1325979386 Sitosterolemia 1 (STSL1) [MIM:210250] ABCG8 Q9H221 VAR_012264 p.Gly574Arg LP/P rs137852988 Sitosterolemia 1 (STSL1) [MIM:210250] ABCG8 Q9H221 VAR_012265 p.Gly575Arg LB/B - - ABCG8 Q9H221 VAR_012266 p.Leu596Arg LP/P rs137852992 Sitosterolemia 1 (STSL1) [MIM:210250] ABCG8 Q9H221 VAR_012267 p.Val632Ala LB/B rs6544718 - ABCG8 Q9H221 VAR_020785 p.Tyr641Phe LB/B rs145125968 - ABCG8 Q9H221 VAR_022074 p.Val210Met LB/B rs9282574 - ABCG8 Q9H221 VAR_022075 p.Met655Val LB/B rs9282573 - ABHD1 Q96SE0 VAR_031087 p.Glu137Asp LB/B rs6715286 - ABHD1 Q96SE0 VAR_031088 p.Trp371Cys LB/B rs2304678 - ABHD1 Q96SE0 VAR_052484 p.Pro54Gln LB/B rs34127901 - ABHD10 Q9NUJ1 VAR_031194 p.Ile251Val LB/B rs17429033 - ABHD12 Q8N2K0 VAR_050630 p.Ala349Thr LB/B rs746748 - ABHD12 Q8N2K0 VAR_081589 p.Arg186Pro US rs587777604 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674] ABHD12 Q8N2K0 VAR_081590 p.Thr202Ile US - Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674] ABHD12 Q8N2K0 VAR_081591 p.Thr253Arg LP/P rs772987424 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674] ABHD12 Q8N2K0 VAR_081593 p.His372Gln US rs587777602 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674] ABHD12B Q7Z5M8 VAR_019100 p.Phe334Leu LB/B rs7154732 - ABHD12B Q7Z5M8 VAR_035676 p.Ile282Val US rs28564871 A breast cancer sample ABHD14A Q9BUJ0 VAR_031390 p.Arg32Gln LB/B rs17849626 - ABHD14A Q9BUJ0 VAR_031391 p.Cys61Trp LB/B rs404527 - ABHD15 Q6UXT9 VAR_045821 p.Thr334Ala LB/B rs542939 - ABHD16A O95870 VAR_086887 p.Arg118His LP/P - Spastic paraplegia 86, autosomal recessive (SPG86) [MIM:619735] ABHD16A O95870 VAR_086888 p.Asn121Ile US - Spastic paraplegia 86, autosomal recessive (SPG86) [MIM:619735] ABHD16A O95870 VAR_086889 p.Arg252Gln US - Spastic paraplegia 86, autosomal recessive (SPG86) [MIM:619735] ABHD16A O95870 VAR_086891 p.Leu409Arg US - Spastic paraplegia 86, autosomal recessive (SPG86) [MIM:619735] ABHD16A O95870 VAR_086893 p.Arg457Gln LP/P - Spastic paraplegia 86, autosomal recessive (SPG86) [MIM:619735] ABHD16B Q9H3Z7 VAR_050920 p.Leu10Gln LB/B rs2281534 - ABHD17B Q5VST6 VAR_031230 p.Gln169Lys LB/B rs17854317 - ABHD17B Q5VST6 VAR_054080 p.Arg154Lys LB/B rs12380380 - ABHD2 P08910 VAR_031203 p.Arg253Gln LB/B rs17851730 - ABHD3 Q8WU67 VAR_031089 p.Arg3Cys LB/B rs17851878 - ABHD5 Q8WTS1 VAR_023387 p.Glu7Lys LP/P rs104893676 Chanarin-Dorfman syndrome (CDS) [MIM:275630] ABHD5 Q8WTS1 VAR_023388 p.Gln130Pro LP/P rs28939077 Chanarin-Dorfman syndrome (CDS) [MIM:275630] ABHD5 Q8WTS1 VAR_023389 p.Glu260Lys LP/P rs28939078 Chanarin-Dorfman syndrome (CDS) [MIM:275630] ABHD5 Q8WTS1 VAR_037574 p.Ile72Thr LB/B rs2302349 - ABHD5 Q8WTS1 VAR_057953 p.His82Arg LB/B rs145548259 - ABHD5 Q8WTS1 VAR_057954 p.Ser115Gly LP/P - Chanarin-Dorfman syndrome (CDS) [MIM:275630] ABHD6 Q9BV23 VAR_081595 p.Arg113His LB/B rs200333190 - ABHD6 Q9BV23 VAR_081596 p.Ser148Cys LB/B rs11544004 - ABHD6 Q9BV23 VAR_081597 p.Pro204Leu LB/B rs199678322 - ABHD6 Q9BV23 VAR_081598 p.Thr206Pro LB/B rs199696239 - ABHD6 Q9BV23 VAR_081599 p.Gly231Val LB/B rs745824058 - ABI1 Q8IZP0 VAR_048159 p.Gly331Ala LB/B rs2306236 - ABI3 Q9P2A4 VAR_022030 p.Arg44Gln LB/B rs2233369 - ABI3 Q9P2A4 VAR_060243 p.Ser203Phe LB/B rs616338 - ABI3 Q9P2A4 VAR_060993 p.Phe209Ser LB/B rs616338 - ABI3BP Q7Z7G0 VAR_079855 p.Asp663Gly US - - ABL1 P00519 VAR_025043 p.Gly706Val LB/B rs34634745 - ABL1 P00519 VAR_025044 p.Thr852Pro LB/B rs1588283506 - ABL1 P00519 VAR_025045 p.Pro900Ser LB/B rs35266696 - ABL1 P00519 VAR_025046 p.Ser972Leu LB/B rs2229067 - ABL1 P00519 VAR_032676 p.Arg47Gly US - A lung large cell carcinoma sample ABL1 P00519 VAR_032677 p.Arg166Lys US - A melanoma sample ABL1 P00519 VAR_032678 p.Pro810Leu LB/B rs2229071 - ABL1 P00519 VAR_051692 p.Leu140Pro LB/B rs1064152 - ABL1 P00519 VAR_051693 p.Lys247Arg LB/B rs34549764 - ABL1 P00519 VAR_051694 p.Ser968Pro LB/B rs1064165 - ABL1 P00519 VAR_079482 p.Tyr226Cys LP/P rs1060499547 Congenital heart defects and skeletal malformations syndrome (CHDSKM) [MIM:617602] ABL1 P00519 VAR_079483 p.Ala337Thr LP/P rs1060499548 Congenital heart defects and skeletal malformations syndrome (CHDSKM) [MIM:617602] ABL2 P42684 VAR_029232 p.Lys930Arg LB/B rs17277288 - ABL2 P42684 VAR_029233 p.Val946Met LB/B rs28913889 - ABL2 P42684 VAR_029234 p.Pro996Arg LB/B rs28913890 - ABL2 P42684 VAR_029235 p.Ser1085Asn LB/B rs28913891 - ABL2 P42684 VAR_029236 p.Thr1101Ala LB/B rs28913892 - ABL2 P42684 VAR_055411 p.Arg78His LB/B rs55655202 - ABL2 P42684 VAR_055412 p.Glu99Gln US - - ABL2 P42684 VAR_055413 p.Arg519Ile US - - ABL2 P42684 VAR_055414 p.Thr769Ser LB/B rs55892721 - ABLIM1 O14639 VAR_050141 p.Pro434Thr LB/B rs11593544 - ABLIM1 O14639 VAR_050142 p.Arg637Gly LB/B rs7091419 - ABLIM2 Q6H8Q1 VAR_062665 p.Gly227Arg US rs757430763 A pancreatic ductal adenocarcinoma sample ABLIM2 Q6H8Q1 VAR_062666 p.Lys274Met US - A pancreatic ductal adenocarcinoma sample ABLIM3 O94929 VAR_050143 p.Gly125Asp LB/B rs35907283 - ABO P16442 VAR_003409 p.Pro156Leu LB/B rs1053878 - ABO P16442 VAR_003410 p.Arg176Gly LB/B rs7853989 - ABO P16442 VAR_003411 p.Gly235Ser LB/B rs8176743 - ABO P16442 VAR_003412 p.Leu266Met LB/B rs8176746 - ABO P16442 VAR_003413 p.Gly268Ala LB/B rs8176747 - ABO P16442 VAR_003414 p.Arg352Trp LB/B - - ABO P16442 VAR_019147 p.Gly35Arg LB/B rs8176696 - ABO P16442 VAR_019148 p.Val36Phe LB/B rs688976 - ABO P16442 VAR_019149 p.Arg63His LB/B rs549446 - ABO P16442 VAR_019150 p.Pro74Ser LB/B rs512770 - ABO P16442 VAR_019151 p.Arg161His LB/B rs8176738 - ABO P16442 VAR_019152 p.Arg199Cys LB/B rs8176739 - ABO P16442 VAR_019153 p.Phe216Ile LB/B rs8176740 - ABO P16442 VAR_019154 p.Val277Met LB/B rs8176748 - ABO P16442 VAR_033540 p.Pro257Leu LB/B rs8176745 - ABO P16442 VAR_033541 p.Gly268Arg LB/B rs41302905 - ABO P16442 VAR_036738 p.Thr163Met LB/B rs55756402 - ABO P16442 VAR_036739 p.Arg198Trp LB/B - - ABO P16442 VAR_036740 p.Met214Arg LB/B - - ABO P16442 VAR_036741 p.Glu223Asp LB/B - - ABO P16442 VAR_036742 p.Met288Arg LB/B - - ABO P16442 VAR_036743 p.Asp291Asn LB/B - - ABO P16442 VAR_036744 p.Lys346Met LB/B - - ABO P16442 VAR_036745 p.Arg352Gly LB/B - - ABO P16442 VAR_055227 p.Gly230Arg US - - ABO P16442 VAR_072628 p.Pro234Ala LB/B - - ABR Q12979 VAR_057186 p.Lys517Arg LB/B rs34169260 - ABRAXAS1 Q6UWZ7 VAR_030790 p.Ala239Thr LB/B rs752929794 - ABRAXAS1 Q6UWZ7 VAR_054054 p.Ala348Thr LB/B rs12642536 - ABRAXAS1 Q6UWZ7 VAR_054055 p.Asp373Asn LB/B rs13125836 - ABRAXAS1 Q6UWZ7 VAR_071865 p.Arg361Gln LP/P rs201627097 Breast cancer (BC) [MIM:114480] ABTB2 Q8N961 VAR_022087 p.His250Gln LB/B rs1925368 - ABTB2 Q8N961 VAR_024171 p.Thr918Ala LB/B rs2473928 - ABTB3 A6QL63 VAR_042534 p.Ala1002Asp LB/B rs11610050 - ABTB3 A6QL63 VAR_042535 p.Gly1076Ser LB/B rs12303478 - ABTB3 A6QL63 VAR_055560 p.Gly448Ser LB/B rs1558781 - ACAA1 P09110 VAR_011904 p.Glu172Asp LB/B rs156265 - ACAA1 P09110 VAR_069148 p.Val387Ala LB/B rs2229528 - ACAA2 P42765 VAR_052577 p.Met217Val LB/B rs11549285 - ACACA Q13085 VAR_028929 p.Ala2271Val LB/B rs146351326 - ACACA Q13085 VAR_036514 p.Arg1687Gln US rs1357271377 A colorectal cancer sample ACACA Q13085 VAR_042941 p.Arg838Trp LB/B rs2287351 - ACACB O00763 VAR_031255 p.Ile552Val LB/B rs16940029 - ACACB O00763 VAR_031256 p.Ala651Thr LB/B rs2300455 - ACACB O00763 VAR_031257 p.Val2141Ile LB/B rs2075260 - ACACB O00763 VAR_062667 p.Arg193Leu US - A pancreatic ductal adenocarcinoma sample ACAD10 Q6JQN1 VAR_031811 p.Gln200Arg LB/B rs35276160 - ACAD10 Q6JQN1 VAR_031812 p.Thr216Pro LB/B rs35753710 - ACAD10 Q6JQN1 VAR_031813 p.Asp463Asn LB/B rs36046440 - ACAD10 Q6JQN1 VAR_031814 p.Ala880Val LB/B rs34245489 - ACAD11 Q709F0 VAR_028826 p.Val362Leu LB/B rs6776576 - ACAD8 Q9UKU7 VAR_035071 p.Met128Ile LP/P rs374317179 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035072 p.Asp134Tyr LP/P rs367857040 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035073 p.Gly137Arg LP/P rs371449613 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035074 p.Met152Thr LP/P rs121908418 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035075 p.Val203Ile LP/P rs759877257 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035076 p.Arg302Gln LP/P rs121908422 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035077 p.Ala320Thr LP/P rs200620279 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035078 p.Arg334Cys LP/P rs778823613 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035079 p.Gln385Arg LP/P rs367996531 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD9 Q9H845 VAR_033459 p.Arg477Gln LB/B rs4494951 - ACAD9 Q9H845 VAR_071892 p.Phe44Ile LP/P rs387907041 Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9 Q9H845 VAR_071893 p.Arg127Lys LP/P - Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9 Q9H845 VAR_071894 p.Arg193Trp US rs377547811 Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9 Q9H845 VAR_071895 p.Ala220Val LP/P - Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9 Q9H845 VAR_071896 p.Ser234Phe US - Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9 Q9H845 VAR_071897 p.Arg266Gln LP/P rs387907042 Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9 Q9H845 VAR_071898 p.Gly303Ser US rs143383023 Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9 Q9H845 VAR_071899 p.Ala326Thr US rs115532916 Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9 Q9H845 VAR_071900 p.Glu413Lys US rs149753643 Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9 Q9H845 VAR_071901 p.Arg414Cys LP/P rs777282696 Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9 Q9H845 VAR_071902 p.Arg417Cys LP/P rs368949613 Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9 Q9H845 VAR_071903 p.Arg469Trp LP/P rs139145143 Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9 Q9H845 VAR_071904 p.Arg518His LP/P rs781149699 Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9 Q9H845 VAR_071905 p.Arg532Trp LP/P rs377022708 Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9 Q9H845 VAR_076177 p.Cys271Gly LP/P - Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9 Q9H845 VAR_076178 p.Val384Met LP/P rs1447947184 Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9 Q9H845 VAR_076179 p.Leu606His LP/P - Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACADL P28330 VAR_000328 p.Ser303Thr LB/B rs1801204 - ACADL P28330 VAR_000329 p.Lys333Gln LB/B rs2286963 - ACADM P11310 VAR_000317 p.Arg53Cys LP/P rs398123072 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000319 p.Met149Ile LP/P rs121434277 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000320 p.Thr193Ala LP/P rs121434279 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000321 p.Gly195Arg LP/P rs121434278 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000322 p.Cys244Arg LP/P rs121434276 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000323 p.Gly267Arg LP/P rs121434274 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000324 p.Met326Thr LP/P rs786204631 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000325 p.Lys329Glu LP/P rs77931234 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000326 p.Ser336Arg LP/P - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000327 p.Ile375Thr LP/P rs121434275 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_013698 p.Tyr67His LP/P rs121434280 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_013699 p.Ser245Leu LP/P rs121434281 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_013700 p.Arg281Thr LP/P rs121434282 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015954 p.Ile78Thr LP/P rs398123074 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015955 p.Cys116Tyr LP/P rs875989859 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015956 p.Thr121Ile LP/P rs121434283 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015957 p.Arg206Leu LP/P rs200724875 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015958 p.Gly310Arg LP/P rs747268471 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015959 p.Tyr352Cys LP/P rs1227800781 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_035716 p.Pro132Arg US rs875989854 A breast cancer sample ACADS P16219 VAR_000310 p.Arg46Trp LP/P rs121908003 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_000311 p.Gly92Cys LP/P rs121908004 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_000312 p.Arg107Cys LP/P rs61732144 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_000314 p.Trp177Arg LP/P rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_000315 p.Gly209Ser LB/B rs1799958 - ACADS P16219 VAR_000316 p.Arg383Cys LP/P rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_013565 p.Gly90Ser LP/P rs121908005 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_013567 p.Arg171Trp LB/B rs1800556 - ACADS P16219 VAR_013568 p.Ala192Val LP/P rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_013569 p.Arg325Trp LP/P rs121908006 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_013570 p.Ser353Leu LP/P rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_013571 p.Arg380Trp LP/P rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_033458 p.Arg383His LB/B rs35233375 - ACADSB P45954 VAR_013010 p.Leu255Phe LP/P rs137852649 Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006] ACADSB P45954 VAR_014749 p.Ser209Gly LB/B rs1799823 - ACADSB P45954 VAR_048177 p.Arg13Lys LB/B rs12263012 - ACADSB P45954 VAR_048178 p.Ile316Val LB/B rs1131430 - ACADSB P45954 VAR_048179 p.Glu376Gly LB/B rs12357783 - ACADVL P49748 VAR_000330 p.Gly43Asp LP/P rs2230178 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000332 p.Thr158Asn LP/P - Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000333 p.Gln159Arg LP/P rs746688190 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000334 p.Val174Met LP/P rs369560930 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000335 p.Gly185Ser LP/P rs545215807 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000336 p.Glu218Lys LP/P rs1432183079 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000337 p.Leu243Arg LP/P - Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000338 p.Lys247Thr LP/P - Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000339 p.Thr260Met LP/P rs113994168 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000341 p.Ala281Asp LP/P - Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000342 p.Val283Ala LP/P rs113994167 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000343 p.Gly290Asp LP/P rs866464446 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000344 p.Gly294Glu LP/P rs200573371 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000345 p.Lys299Asn LP/P rs774716484 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000347 p.Val317Ala LP/P rs398123095 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000348 p.Met352Val LP/P - Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000349 p.Arg366Cys LP/P rs771874163 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000350 p.Arg366His LP/P rs112406105 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000352 p.Lys382Gln LP/P rs118204015 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000353 p.Asp405His LP/P - Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000354 p.Gly441Asp LP/P rs2309689 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000355 p.Arg450His LP/P rs118204016 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000356 p.Arg453Gln LP/P rs138058572 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000357 p.Asp454Asn LP/P rs1419606204 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000358 p.Arg456His LP/P rs794727112 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000359 p.Arg459Trp LP/P rs766742117 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000360 p.Gly463Glu LP/P rs200366828 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000361 p.Arg469Gln LP/P rs398123083 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000362 p.Arg469Trp LP/P rs113994170 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000363 p.Leu502Pro LP/P - Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000364 p.Leu602Ile LP/P - Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000365 p.Arg613Trp LP/P rs118204014 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_010101 p.Ala213Pro LP/P rs140629318 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_010102 p.Lys247Glu LP/P rs387906253 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_010103 p.Phe458Leu LP/P rs118204017 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_010104 p.Ala490Pro LP/P rs759775666 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_010105 p.Glu534Lys US rs2230180 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_010106 p.Arg615Gln LP/P rs148584617 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_011990 p.Ala359Ser LB/B rs1051701 - ACADVL P49748 VAR_011991 p.Ser623Phe LB/B rs13383 - ACADVL P49748 VAR_029286 p.Leu17Phe LB/B rs2230179 - ACADVL P49748 VAR_048176 p.Pro65Leu LB/B rs28934585 - ACADVL P49748 VAR_083892 p.Ser583Trp LP/P rs1085307648 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACAN P16112 VAR_056152 p.Asp102Glu LB/B rs16942318 - ACAN P16112 VAR_056153 p.Arg275Gln LB/B rs34949187 - ACAN P16112 VAR_056154 p.Pro2058Leu LB/B rs35061438 - ACAN P16112 VAR_056155 p.Ser2120Arg LB/B rs34153007 - ACAN P16112 VAR_063053 p.Asp2381Asn LP/P rs121913568 Spondyloepimetaphyseal dysplasia, aggrecan type (SEMDAG) [MIM:612813] ACAN P16112 VAR_063765 p.Val2418Met LP/P rs779794758 Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) [MIM:165800] ACAN P16112 VAR_080159 p.Pro864Leu LB/B rs3743398 - ACAN P16112 VAR_080160 p.Pro913Thr LB/B rs35430524 - ACAN P16112 VAR_080161 p.Ser930Ile LB/B rs938608 - ACAN P16112 VAR_080162 p.Ser939Thr LB/B rs938609 - ACAN P16112 VAR_080163 p.Thr1080Ala LB/B rs373544100 - ACAN P16112 VAR_080164 p.Thr1403Ala LB/B rs12899191 - ACAN P16112 VAR_080165 p.Glu1508Ala LB/B rs2882676 - ACAN P16112 VAR_080166 p.Ile1765Val LB/B rs4932439 - ACAN P16112 VAR_080167 p.Ile2079Val LB/B rs1042630 - ACAN P16112 VAR_080168 p.Asp2373Glu LB/B rs3817428 - ACAN P16112 VAR_080169 p.Gln2500Arg LB/B rs1126823 - ACAP1 Q15027 VAR_036178 p.Lys114Arg US rs759855054 A breast cancer sample ACAP1 Q15027 VAR_036179 p.Arg129Gln US rs754740225 A colorectal cancer sample ACAP1 Q15027 VAR_048328 p.Arg68Cys LB/B rs35933585 - ACAP1 Q15027 VAR_048329 p.Arg533Trp LB/B rs35019942 - ACAT1 P24752 VAR_007496 p.Ala5Pro LB/B rs3741056 - ACAT1 P24752 VAR_007498 p.Asn93Ser LP/P rs120074145 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007499 p.Gly152Ala LP/P rs762991875 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007500 p.Asn158Asp LP/P rs148639841 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007501 p.Gly183Arg LP/P rs120074141 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007502 p.Thr297Met LP/P rs886041122 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007503 p.Ala301Pro LP/P rs1420321267 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007504 p.Ile312Thr LP/P rs120074146 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007505 p.Ala333Pro LP/P rs120074147 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007506 p.Gly379Val LP/P rs120074143 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007507 p.Ala380Thr LP/P rs120074140 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT2 Q9BWD1 VAR_019686 p.Lys211Arg LB/B rs25683 - ACBD3 Q9H3P7 VAR_019615 p.Glu187Asp LB/B rs2306120 - ACBD4 Q8NC06 VAR_055478 p.Pro118Leu LB/B rs901754 - ACBD4 Q8NC06 VAR_059109 p.Arg242Gly LB/B rs16939879 - ACBD5 Q5T8D3 VAR_032301 p.Thr472Met LB/B rs7918793 - ACCS Q96QU6 VAR_038685 p.Gly221Glu US rs35514614 A breast cancer sample ACCS Q96QU6 VAR_038686 p.Ser393Leu US - A breast cancer sample ACCS Q96QU6 VAR_038687 p.Pro421Leu LB/B rs3107275 - ACCS Q96QU6 VAR_048227 p.Asp59Asn LB/B rs33952257 - ACCS Q96QU6 VAR_048228 p.Asp134Glu LB/B rs2018795 - ACCSL Q4AC99 VAR_060626 p.Cys529Arg LB/B rs2074051 - ACD Q96AP0 VAR_060224 p.Thr215Met LB/B rs72547495 - ACD Q96AP0 VAR_060225 p.Val432Ala LB/B rs6979 - ACD Q96AP0 VAR_075694 p.Pro405Thr LP/P rs201441120 Dyskeratosis congenita, autosomal recessive, 7 (DKCB7) [MIM:616553] ACE P12821 VAR_011707 p.Ala261Ser LB/B rs4303 - ACE P12821 VAR_011708 p.Arg561Trp LB/B rs4314 - ACE P12821 VAR_011709 p.Arg1286Ser LB/B rs4364 - ACE P12821 VAR_014189 p.Ile1018Thr LB/B rs4976 - ACE P12821 VAR_014190 p.Phe1051Val LB/B rs4977 - ACE P12821 VAR_014191 p.Arg1279Gln LB/B rs4980 - ACE P12821 VAR_014192 p.Gln1296Pro LB/B rs4981 - ACE P12821 VAR_020053 p.Asp592Gly LB/B rs12709426 - ACE P12821 VAR_023430 p.Tyr244Cys LB/B rs3730025 - ACE P12821 VAR_023431 p.Pro351Leu LB/B rs2229839 - ACE P12821 VAR_023432 p.Thr916Met LB/B rs3730043 - ACE P12821 VAR_023433 p.Thr1187Met LB/B rs12709442 - ACE P12821 VAR_023434 p.Pro1228Leu LB/B rs121912703 - ACE P12821 VAR_029139 p.Ala154Thr LB/B rs13306087 - ACE P12821 VAR_029140 p.Ala183Thr LB/B rs12720754 - ACE P12821 VAR_029141 p.Arg379Gln LB/B rs13306085 - ACE P12821 VAR_029142 p.Val524Ala LB/B rs12720746 - ACE P12821 VAR_034602 p.Met828Thr LB/B rs13306091 - ACE P12821 VAR_035434 p.Gly354Arg LB/B rs56394458 - ACE P12821 VAR_054000 p.Arg260Cys LB/B rs147670020 - ACE P12821 VAR_054001 p.Arg260Leu LB/B rs4303 - ACE P12821 VAR_074173 p.Asp295Asn LB/B rs989500910 - ACE2 Q9BYF1 VAR_023082 p.Lys26Arg LB/B rs4646116 - ACE2 Q9BYF1 VAR_023083 p.Asn638Ser LB/B rs183135788 - ACE2 Q9BYF1 VAR_083726 p.Ile468Val LB/B - - ACE2 Q9BYF1 VAR_083727 p.Asn720Asp LB/B - - ACER2 Q5QJU3 VAR_027150 p.Ala134Val LB/B rs10964136 - ACER3 Q9NUN7 VAR_081205 p.Glu33Gly LP/P rs1554988032 Leukodystrophy, progressive, early childhood-onset (PLDECO) [MIM:617762] ACHE P22303 VAR_002359 p.His353Asn LB/B rs1799805 - ACHE P22303 VAR_011934 p.Val333Glu LB/B rs8286 - ACHE P22303 VAR_021325 p.Arg34Gln LB/B rs17881553 - ACHE P22303 VAR_021326 p.Pro135Ala LB/B rs17885778 - ACIN1 Q9UKV3 VAR_022031 p.Ile311Met LB/B rs3811182 - ACIN1 Q9UKV3 VAR_022032 p.Ser467Pro LB/B rs1885097 - ACIN1 Q9UKV3 VAR_022033 p.Ser478Phe LB/B rs3751501 - ACIN1 Q9UKV3 VAR_035777 p.Arg1160Gln US rs754494408 A colorectal cancer sample ACIN1 Q9UKV3 VAR_050632 p.Arg257Lys LB/B rs11555803 - ACIN1 Q9UKV3 VAR_061547 p.Ala447Pro LB/B rs941719 - ACKR1 Q16570 VAR_003480 p.Gly42Asp LB/B rs12075 - ACKR1 Q16570 VAR_015068 p.Arg89Cys LB/B rs34599082 - ACKR1 Q16570 VAR_015069 p.Ala100Thr LB/B rs13962 - ACKR1 Q16570 VAR_044116 p.Leu203Gln LB/B rs3027020 - ACKR1 Q16570 VAR_044117 p.Ser326Phe LB/B rs17851570 - ACKR2 O00590 VAR_024252 p.Tyr373Ser LB/B rs2228468 - ACKR2 O00590 VAR_049379 p.Val41Ala LB/B rs2228467 - ACKR2 O00590 VAR_049380 p.Ala248Val LB/B rs2228469 - ACKR2 O00590 VAR_049381 p.Leu311Val LB/B rs6779520 - ACKR3 P25106 VAR_027477 p.Leu219Trp LB/B rs10183641 - ACKR3 P25106 VAR_085335 p.Val258Met LP/P rs200582844 Oculomotor-abducens synkinesis (OCABSN) [MIM:619215] ACLY P53396 VAR_028230 p.Glu175Asp LB/B rs2304497 - ACO1 P21399 VAR_048180 p.Ala395Asp LB/B rs3814519 - ACO1 P21399 VAR_048181 p.Gly486Arg LB/B rs34630459 - ACO1 P21399 VAR_069413 p.Thr318Met LB/B rs150373174 - ACO2 Q99798 VAR_033297 p.Ala768Ser LB/B rs1804785 - ACO2 Q99798 VAR_036572 p.Thr697Asn US - A breast cancer sample ACO2 Q99798 VAR_067543 p.Ser112Arg LP/P rs786200924 Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559] ACO2 Q99798 VAR_073435 p.Leu74Val LP/P rs141772938 Optic atrophy 9 (OPA9) [MIM:616289] ACO2 Q99798 VAR_073436 p.Gly259Asp LP/P rs786204828 Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559] ACO2 Q99798 VAR_073437 p.Gly661Arg LP/P rs752034900 Optic atrophy 9 (OPA9) [MIM:616289] ACO2 Q99798 VAR_073438 p.Lys736Asn LP/P rs786204829 Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559] ACOD1 A6NK06 VAR_086754 p.Thr97Met LB/B rs767323284 - ACOD1 A6NK06 VAR_086755 p.Asn152Ser US - - ACOD1 A6NK06 VAR_086756 p.His159Gln US - - ACOD1 A6NK06 VAR_086757 p.His159Arg LB/B rs1471882722 - ACOD1 A6NK06 VAR_086758 p.Lys272Gln LB/B rs1018207074 - ACOD1 A6NK06 VAR_086759 p.Arg273His US - - ACOD1 A6NK06 VAR_086760 p.His277Tyr LB/B rs1289708092 - ACOD1 A6NK06 VAR_086761 p.Arg331His LB/B rs755737247 - ACOT1 Q86TX2 VAR_059830 p.Arg266His LB/B rs1049568 - ACOT11 Q8WXI4 VAR_022119 p.Pro165Leu LB/B rs2304306 - ACOT11 Q8WXI4 VAR_022120 p.Gly202Asp LB/B rs1702003 - ACOT11 Q8WXI4 VAR_022121 p.Met212Ile LB/B rs2304305 - ACOT11 Q8WXI4 VAR_048190 p.Arg11Trp LB/B rs34630746 - ACOT11 Q8WXI4 VAR_048191 p.Arg536His LB/B rs12403630 - ACOT12 Q8WYK0 VAR_048192 p.Val230Ile LB/B rs34607174 - ACOT12 Q8WYK0 VAR_048193 p.Ala403Thr LB/B rs10371 - ACOT12 Q8WYK0 VAR_064691 p.Leu190His US - - ACOT2 P49753 VAR_016136 p.His475Arg LB/B rs7494 - ACOT2 P49753 VAR_057271 p.Arg16Ser LB/B rs11545741 - ACOT4 Q8N9L9 VAR_052300 p.Arg57Cys LB/B rs3742819 - ACOT4 Q8N9L9 VAR_052301 p.Ala187Asp LB/B rs35724886 - ACOT6 Q3I5F7 VAR_052302 p.Glu380Lys LB/B rs17782052 - ACOT9 Q9Y305 VAR_062668 p.Asn305His US - A pancreatic ductal adenocarcinoma sample ACOX1 Q15067 VAR_021529 p.Ile312Met LB/B rs1135640 - ACOX1 Q15067 VAR_025789 p.Gly178Cys LP/P rs118204091 Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] ACOX1 Q15067 VAR_025790 p.Met278Val LP/P rs118204090 Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] ACOX1 Q15067 VAR_030619 p.Thr153Ile LB/B rs17855420 - ACOX1 Q15067 VAR_048182 p.Gly101Ser LB/B rs3744032 - ACOX1 Q15067 VAR_067041 p.Ser184Leu LP/P rs780887410 Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] ACOX1 Q15067 VAR_067042 p.Gly231Val LP/P - Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] ACOX1 Q15067 VAR_067043 p.Gln309Arg LP/P rs118204092 Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] ACOX1 Q15067 VAR_067044 p.Ser310Pro LP/P rs758962364 Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] ACOX1 Q15067 VAR_083893 p.Asn237Ser LP/P rs1567876984 Mitchell syndrome (MITCH) [MIM:618960] ACOX1 Q15067 VAR_085887 p.Phe420Ser US - Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] ACOX2 Q99424 VAR_078765 p.Arg225Trp LP/P rs150832314 Congenital bile acid synthesis defect 6 (CBAS6) [MIM:617308] ACOX3 O15254 VAR_030802 p.Glu34Ala LB/B rs12513296 - ACOX3 O15254 VAR_030803 p.Asp497Asn LB/B rs13434465 - ACOXL Q9NUZ1 VAR_035164 p.Thr255Met LB/B rs1554005 - ACOXL Q9NUZ1 VAR_035165 p.Pro535Leu LB/B rs17041850 - ACP1 P24666 VAR_006171 p.Gln106Arg LB/B rs79716074 - ACP1 P24666 VAR_050526 p.Lys7Asn LB/B rs11691572 - ACP1 P24666 VAR_050527 p.Ser137Phe LB/B rs35569198 - ACP2 P11117 VAR_027801 p.Arg29Gln LB/B rs2167079 - ACP2 P11117 VAR_034394 p.Ser320Phe LB/B rs34425282 - ACP2 P11117 VAR_050519 p.Val402Ile LB/B rs4647764 - ACP3 P15309 VAR_047960 p.Ser15Asn LB/B rs17850347 - ACP3 P15309 VAR_047961 p.Phe124Val LB/B rs17856254 - ACP3 P15309 VAR_047962 p.Trp226Arg LB/B rs17856253 - ACP3 P15309 VAR_047963 p.Tyr330His LB/B rs17851392 - ACP3 P15309 VAR_047964 p.Val360Ala LB/B rs17850198 - ACP4 Q9BZG2 VAR_078014 p.Arg76Cys LP/P rs1057519277 Amelogenesis imperfecta 1J (AI1J) [MIM:617297] ACP4 Q9BZG2 VAR_078015 p.Arg111Cys LP/P rs202073531 Amelogenesis imperfecta 1J (AI1J) [MIM:617297] ACP4 Q9BZG2 VAR_078016 p.Ala128Pro US rs767907487 Amelogenesis imperfecta 1J (AI1J) [MIM:617297] ACP4 Q9BZG2 VAR_078017 p.Glu133Lys US rs779823931 Amelogenesis imperfecta 1J (AI1J) [MIM:617297] ACP4 Q9BZG2 VAR_078018 p.Ser238Leu LP/P rs763573828 Amelogenesis imperfecta 1J (AI1J) [MIM:617297] ACP5 P13686 VAR_020602 p.Val148Met LB/B rs2305799 - ACP5 P13686 VAR_020603 p.Val200Met LB/B rs2229531 - ACP5 P13686 VAR_029288 p.Val221Ile LB/B rs2229532 - ACP5 P13686 VAR_065920 p.Lys52Met LP/P - Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] ACP5 P13686 VAR_065921 p.Thr89Ile LP/P rs387906668 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] ACP5 P13686 VAR_065922 p.Gly109Arg LP/P rs781050795 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] ACP5 P13686 VAR_065923 p.Leu201Pro LP/P rs387906672 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] ACP5 P13686 VAR_065924 p.Gly215Arg LP/P rs781199182 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] ACP5 P13686 VAR_065925 p.Asp241Asn LP/P - Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] ACP5 P13686 VAR_065926 p.Asn262His LP/P rs1449857485 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] ACP5 P13686 VAR_065927 p.Met264Lys LP/P rs387906670 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] ACP6 Q9NPH0 VAR_022678 p.Met316Val LB/B rs6593795 - ACR P10323 VAR_011650 p.Leu120Val LB/B rs1064734 - ACR P10323 VAR_011651 p.Phe166Leu LB/B rs1064735 - ACRBP Q8NEB7 VAR_050633 p.Thr336Ala LB/B rs3741923 - ACRV1 P26436 VAR_050680 p.Gly126Arg LB/B rs34788353 - ACSBG1 Q96GR2 VAR_038314 p.Glu194Val LB/B rs12899901 - ACSBG1 Q96GR2 VAR_038315 p.Met633Val LB/B rs2304824 - ACSBG1 Q96GR2 VAR_038316 p.Ala673Val LB/B rs11072735 - ACSBG2 Q5FVE4 VAR_038317 p.Val143Ala LB/B rs4807840 - ACSBG2 Q5FVE4 VAR_038318 p.Lys152Arg LB/B rs33937754 - ACSBG2 Q5FVE4 VAR_038319 p.Gly584Asp LB/B rs17851959 - ACSBG2 Q5FVE4 VAR_038320 p.Gly586Asp LB/B rs17851960 - ACSBG2 Q5FVE4 VAR_038321 p.Pro601Arg LB/B rs35609668 - ACSBG2 Q5FVE4 VAR_038322 p.Arg624Lys LB/B rs17856650 - ACSBG2 Q5FVE4 VAR_038323 p.Glu626Gln LB/B rs17856651 - ACSBG2 Q5FVE4 VAR_038324 p.Arg650Ser LB/B rs35605352 - ACSF2 Q96CM8 VAR_038304 p.Gly75Val LB/B rs17856448 - ACSF2 Q96CM8 VAR_038305 p.Val316Met LB/B rs3744523 - ACSF3 Q4G176 VAR_038306 p.Leu2Pro LB/B rs7188200 - ACSF3 Q4G176 VAR_038307 p.Ala17Pro LB/B rs11547019 - ACSF3 Q4G176 VAR_038308 p.Val372Met LB/B rs3743979 - ACSF3 Q4G176 VAR_066504 p.Met198Arg LP/P rs387907121 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] ACSF3 Q4G176 VAR_066505 p.Pro243Leu LP/P rs140986055 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] ACSF3 Q4G176 VAR_066506 p.Thr358Ile LP/P rs387907120 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] ACSF3 Q4G176 VAR_066507 p.Glu359Lys LP/P rs150487794 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] ACSF3 Q4G176 VAR_066508 p.Lys462Thr LP/P rs1362504214 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] ACSF3 Q4G176 VAR_066510 p.Arg471Gln LP/P rs387907119 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] ACSF3 Q4G176 VAR_066511 p.Arg471Trp LP/P rs138680796 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] ACSF3 Q4G176 VAR_066512 p.Gly480Ser LP/P - Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] ACSF3 Q4G176 VAR_066513 p.Arg558Trp LP/P rs141090143 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] ACSL3 O95573 VAR_026716 p.Phe551Ser LB/B rs1046032 - ACSL4 O60488 VAR_013180 p.Arg570Ser LP/P rs122458138 Intellectual developmental disorder, X-linked 63 (XLID63) [MIM:300387] ACSL4 O60488 VAR_036376 p.Arg133Cys US rs753267653 A colorectal cancer sample ACSL4 O60488 VAR_083476 p.Asp379Asn LB/B - - ACSL5 Q9ULC5 VAR_022117 p.Met182Val LB/B rs3736946 - ACSL5 Q9ULC5 VAR_036377 p.Lys388Arg US - A colorectal cancer sample ACSL5 Q9ULC5 VAR_036378 p.Gly466Asp US - A colorectal cancer sample ACSL5 Q9ULC5 VAR_048240 p.Thr486Ala LB/B rs12254915 - ACSL5 Q9ULC5 VAR_088452 p.Thr453Lys LP/P - Diarrhea 13 (DIAR13) [MIM:620357] ACSM1 Q08AH1 VAR_035245 p.Ile479Val LB/B rs8056709 - ACSM1 Q08AH1 VAR_035246 p.Ile515Thr LB/B rs16970453 - ACSM1 Q08AH1 VAR_048238 p.Ile272Met LB/B rs16970511 - ACSM2A Q08AH3 VAR_035247 p.Ser513Leu LB/B rs1133607 - ACSM2A Q08AH3 VAR_035248 p.Ala561Thr LB/B rs1054977 - ACSM2A Q08AH3 VAR_058692 p.Val335Leu LB/B rs4643305 - ACSM2A Q08AH3 VAR_058694 p.Val337Gly LB/B rs4586421 - ACSM3 Q53FZ2 VAR_035249 p.Leu100Pro LB/B rs5713 - ACSM3 Q53FZ2 VAR_035250 p.Pro308Thr LB/B rs7196188 - ACSM3 Q53FZ2 VAR_035251 p.Lys367Asn LB/B rs5716 - ACSM3 Q53FZ2 VAR_048239 p.Asp270His LB/B rs13306603 - ACSM4 P0C7M7 VAR_061010 p.Arg481His LB/B rs61584783 - ACSM5 Q6NUN0 VAR_035252 p.Gln159His LB/B rs559741756 - ACSM5 Q6NUN0 VAR_035253 p.Pro352Arg LB/B rs8062344 - ACSM5 Q6NUN0 VAR_035254 p.His360Arg LB/B rs12931877 - ACSM5 Q6NUN0 VAR_035255 p.Thr533Met LB/B rs554734865 - ACSM5 Q6NUN0 VAR_055495 p.Arg65Gln LB/B rs9928053 - ACSM5 Q6NUN0 VAR_055496 p.Glu182Lys LB/B rs7192210 - ACSM5 Q6NUN0 VAR_061011 p.Met217Val LB/B rs59025904 - ACSM6 Q6P461 VAR_043606 p.Lys227Arg LB/B rs7090248 - ACSM6 Q6P461 VAR_063090 p.Glu19Gly LB/B rs591157 - ACSM6 Q6P461 VAR_063091 p.Cys40Ser LB/B rs11188225 - ACSS1 Q9NUB1 VAR_048184 p.Val488Met LB/B rs6050249 - ACTA1 P68133 VAR_011680 p.Gly17Arg LP/P rs121909521 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_011681 p.Leu96Pro LP/P rs121909519 Congenital myopathy 2B, severe infantile, autosomal recessive (CMYP2B) [MIM:620265] ACTA1 P68133 VAR_011682 p.Asn117Ser LP/P rs121909520 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_011683 p.Ile138Met LP/P rs121909526 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_011684 p.Val165Leu LP/P rs121909522 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_011685 p.Glu261Val LP/P rs121909523 Congenital myopathy 2B, severe infantile, autosomal recessive (CMYP2B) [MIM:620265] ACTA1 P68133 VAR_011686 p.Gly270Cys LP/P rs121909525 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_011687 p.Val372Phe LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_013470 p.Met134Val LP/P rs1659974377 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_013471 p.Met271Arg LP/P rs1553255360 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_015579 p.His42Tyr LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_015580 p.Gly184Asp LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_015581 p.Arg185Gly LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_015582 p.Arg185Cys LP/P rs1064794287 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_015583 p.Arg258His LP/P rs1659953887 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_015584 p.Gln265Leu LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_015585 p.Asn282Lys LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_015586 p.Asp288Gly LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_015587 p.Ile359Leu LP/P rs121909524 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_032917 p.Leu223Pro LP/P rs121909530 Congenital myopathy 2C, severe infantile, autosomal dominant (CMYP2C) [MIM:620278] ACTA1 P68133 VAR_032918 p.Asp294Val LP/P rs121909529 Congenital myopathy 2C, severe infantile, autosomal dominant (CMYP2C) [MIM:620278] ACTA1 P68133 VAR_032919 p.Pro334Ser LP/P rs121909531 Congenital myopathy 2C, severe infantile, autosomal dominant (CMYP2C) [MIM:620278] ACTA1 P68133 VAR_062424 p.Asp3Tyr LP/P rs121909527 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062425 p.Asp27Asn LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062426 p.Val37Leu LP/P rs1553255521 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062427 p.Pro40Leu LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062428 p.Gln43Arg LP/P rs1659984269 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062429 p.Gly44Val LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062430 p.Val45Phe LP/P rs398123562 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062431 p.Ile66Asn LP/P rs1553255502 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062432 p.Thr68Ile LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062433 p.Glu74Lys LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062434 p.His75Leu LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062435 p.His75Arg LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062436 p.Ile77Leu LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062437 p.Thr79Ala LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062438 p.Glu85Lys LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062439 p.Ala116Thr LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062440 p.Asn117Thr LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062441 p.Arg118His LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062442 p.Val136Ala LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062443 p.Ala140Pro LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062444 p.Leu142Pro LP/P rs1553255482 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062445 p.Gly148Asp LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062446 p.Thr150Asn LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062447 p.Asp156Asn LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062448 p.Val165Met LP/P rs121909522 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062449 p.Ala172Gly LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062450 p.Asp181Gly LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062451 p.Asp181His LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062452 p.Asp181Asn LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062453 p.Arg185Asp LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062454 p.Arg185Ser LP/P rs1064794287 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062455 p.Arg198Leu LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062456 p.Gly199Ser LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062457 p.Glu226Gly LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062458 p.Glu226Gln LP/P rs1057521118 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062459 p.Asn227Val LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062460 p.Met229Ile LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062461 p.Met229Thr LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062462 p.Met229Val LP/P rs794727714 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062463 p.Glu243Lys LP/P rs367543051 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062464 p.Gln248Lys LP/P rs1659954634 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062465 p.Gln248Arg LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062466 p.Gly253Asp LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062467 p.Arg258Leu LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062468 p.Gly270Asp LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062469 p.Gly270Arg LP/P rs121909525 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062470 p.Ala274Glu LP/P rs1553255357 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062471 p.Tyr281His LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062472 p.Met285Lys LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062473 p.Glu336Ala LP/P rs121909528 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062474 p.Lys338Glu LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062475 p.Lys338Ile LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062476 p.Ser350Leu LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062477 p.Arg374Ser LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062478 p.Lys375Glu LP/P rs1571892209 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_062479 p.Lys375Gln LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_076426 p.Glu197Asp LP/P rs869312739 Myopathy, scapulohumeroperoneal (SHPM) [MIM:616852] ACTA1 P68133 VAR_076427 p.Lys328Asn LP/P rs398122936 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_076428 p.Trp358Cys LP/P rs587777354 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_083589 p.Pro72Arg LP/P rs1659978909 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_083590 p.Ala116Val LP/P rs1659975747 Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1 P68133 VAR_085717 p.Gly17Ser LP/P - Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA2 P62736 VAR_011944 p.Thr196Ser LB/B rs1803028 - ACTA2 P62736 VAR_011945 p.Thr320Ala LB/B rs1803027 - ACTA2 P62736 VAR_011946 p.His373Pro LB/B rs1062398 - ACTA2 P62736 VAR_045915 p.Asn117Thr LP/P - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045916 p.Arg118Gln LP/P rs112602953 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045917 p.Tyr135His LP/P rs751300489 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045918 p.Arg149Cys LP/P rs121434526 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045919 p.Val154Ala LP/P rs1554841298 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045920 p.Arg258Cys LP/P rs121434528 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045921 p.Arg258His LP/P rs121434527 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045922 p.Arg292Gly LP/P - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045923 p.Thr353Asn LP/P - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_062577 p.Arg39His LP/P rs794728021 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_062578 p.Tyr145Cys LP/P - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_062579 p.Arg185Gln LP/P rs1057521105 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_062580 p.Arg212Gln LP/P rs397516685 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_062581 p.Thr326Asn LP/P rs777832794 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_064516 p.Arg179His LP/P rs387906592 Moyamoya disease 5 (MYMY5) [MIM:614042] ACTA2 P62736 VAR_064516 p.Arg179His LP/P rs387906592 Multisystemic smooth muscle dysfunction syndrome (MSMDS) [MIM:613834] ACTA2 P62736 VAR_085865 p.Arg179Cys LP/P rs886039303 Multisystemic smooth muscle dysfunction syndrome (MSMDS) [MIM:613834] ACTB P60709 VAR_030026 p.Arg183Trp LP/P rs104894003 Dystonia-deafness syndrome 1 (DDS1) [MIM:607371] ACTB P60709 VAR_048185 p.Pro243Leu LB/B rs11546899 - ACTB P60709 VAR_067810 p.Asn12Asp LP/P rs281875331 Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] ACTB P60709 VAR_067811 p.Leu65Val LP/P rs281875332 Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] ACTB P60709 VAR_067812 p.Arg196Cys LP/P rs281875333 Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] ACTB P60709 VAR_067813 p.Arg196His LP/P rs281875334 Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] ACTC1 P68032 VAR_012857 p.Glu101Lys LP/P rs193922680 Cardiomyopathy, familial hypertrophic, 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_012858 p.Pro166Ala LP/P rs267606628 Cardiomyopathy, familial hypertrophic, 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_012859 p.Ala297Ser LP/P rs121912675 Cardiomyopathy, familial hypertrophic, 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_012860 p.Arg314His LP/P rs121912673 Cardiomyopathy, dilated, 1R (CMD1R) [MIM:613424] ACTC1 P68032 VAR_012861 p.Ala333Pro LP/P rs267606629 Cardiomyopathy, familial hypertrophic, 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_012862 p.Glu363Gly LP/P rs121912674 Cardiomyopathy, dilated, 1R (CMD1R) [MIM:613424] ACTC1 P68032 VAR_045924 p.His90Tyr LP/P rs121912676 Cardiomyopathy, familial hypertrophic, 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_045925 p.Arg97Cys LP/P rs759495229 Cardiomyopathy, familial hypertrophic, 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_046502 p.Met125Val LP/P rs121912677 Atrial septal defect 5 (ASD5) [MIM:612794] ACTC1 P68032 VAR_046503 p.Tyr168Cys LP/P - Cardiomyopathy, familial hypertrophic, 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_046504 p.Met307Leu LP/P - Cardiomyopathy, familial hypertrophic, 11 (CMH11) [MIM:612098] ACTG1 P63261 VAR_032434 p.Thr89Ile LP/P rs28999111 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_032435 p.Lys118Met LP/P rs104894544 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_032436 p.Pro264Leu LP/P rs104894546 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_032437 p.Thr278Ile LP/P rs28999112 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_032438 p.Pro332Ala LP/P rs104894545 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_032439 p.Val370Ala LP/P rs104894547 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_048186 p.Thr160Ile LB/B rs11549206 - ACTG1 P63261 VAR_067814 p.Thr120Ile LP/P rs281875325 Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] ACTG1 P63261 VAR_067815 p.Ala135Val LP/P rs11549190 Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] ACTG1 P63261 VAR_067816 p.Ser155Phe LP/P rs281875326 Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] ACTG1 P63261 VAR_067817 p.Thr203Lys LP/P rs281875327 Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] ACTG1 P63261 VAR_067818 p.Arg254Trp LP/P rs281875328 Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] ACTG1 P63261 VAR_067819 p.Arg256Trp LP/P rs281875329 Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] ACTG1 P63261 VAR_067824 p.Lys118Asn LP/P rs267606630 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_067825 p.Ile122Val LP/P rs281875330 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_067826 p.Glu241Lys LP/P rs267606631 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_079849 p.Pro70Leu US - - ACTG1 P63261 VAR_079878 p.Asp187His LP/P - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_079879 p.Glu316Lys US - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG2 P63267 VAR_071279 p.Arg40Cys LP/P rs587777385 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (MMIHS5) [MIM:619431] ACTG2 P63267 VAR_071280 p.Arg40His LP/P rs587777386 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (MMIHS5) [MIM:619431] ACTG2 P63267 VAR_071280 p.Arg40His LP/P rs587777386 Visceral myopathy 1 (VSCM1) [MIM:155310] ACTG2 P63267 VAR_071281 p.Met45Thr LP/P rs864309490 Visceral myopathy 1 (VSCM1) [MIM:155310] ACTG2 P63267 VAR_071282 p.Arg63Gly LP/P rs864309491 Visceral myopathy 1 (VSCM1) [MIM:155310] ACTG2 P63267 VAR_071283 p.Pro110Leu LP/P - Visceral myopathy 1 (VSCM1) [MIM:155310] ACTG2 P63267 VAR_071284 p.Tyr134Asn LP/P rs587777388 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (MMIHS5) [MIM:619431] ACTG2 P63267 VAR_071285 p.Arg148Ser LP/P rs587777383 Visceral myopathy 1 (VSCM1) [MIM:155310] ACTG2 P63267 VAR_071286 p.Arg178Cys LP/P rs78001248 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (MMIHS5) [MIM:619431] ACTG2 P63267 VAR_071287 p.Arg178His LP/P rs587777384 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (MMIHS5) [MIM:619431] ACTG2 P63267 VAR_071288 p.Arg178Leu LP/P rs587777384 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (MMIHS5) [MIM:619431] ACTG2 P63267 VAR_071289 p.Gly198Asp LP/P rs864309492 Visceral myopathy 1 (VSCM1) [MIM:155310] ACTG2 P63267 VAR_071290 p.Arg257Cys LP/P rs587777387 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (MMIHS5) [MIM:619431] ACTG2 P63267 VAR_071290 p.Arg257Cys LP/P rs587777387 Visceral myopathy 1 (VSCM1) [MIM:155310] ACTG2 P63267 VAR_085866 p.His41Gln US - Visceral myopathy 1 (VSCM1) [MIM:155310] ACTG2 P63267 VAR_085867 p.Arg63Gln LP/P - Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (MMIHS5) [MIM:619431] ACTG2 P63267 VAR_085868 p.Leu143Phe LP/P - Visceral myopathy 1 (VSCM1) [MIM:155310] ACTG2 P63267 VAR_085869 p.Arg148Leu LP/P - Visceral myopathy 1 (VSCM1) [MIM:155310] ACTG2 P63267 VAR_085870 p.Thr149Arg LP/P - Visceral myopathy 1 (VSCM1) [MIM:155310] ACTG2 P63267 VAR_085871 p.Thr195Ile LP/P - Visceral myopathy 1 (VSCM1) [MIM:155310] ACTG2 P63267 VAR_085872 p.Glu196Asp LP/P - Visceral myopathy 1 (VSCM1) [MIM:155310] ACTG2 P63267 VAR_085873 p.Arg257His LP/P - Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (MMIHS5) [MIM:619431] ACTG2 P63267 VAR_085874 p.Arg336Trp US - - ACTL6A O96019 VAR_079728 p.Glu227Gln US rs1035631360 - ACTL6A O96019 VAR_079729 p.Arg377Trp LB/B rs868064163 - ACTL6B O94805 VAR_082123 p.Asp77Gly US rs1562851259 Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) [MIM:618470] ACTL6B O94805 VAR_082125 p.Arg130Gln US rs757603505 Developmental and epileptic encephalopathy 76 (DEE76) [MIM:618468] ACTL6B O94805 VAR_082128 p.Leu206Pro LP/P rs1562848909 Developmental and epileptic encephalopathy 76 (DEE76) [MIM:618468] ACTL6B O94805 VAR_082134 p.Gly343Arg LP/P rs1131692228 Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) [MIM:618470] ACTL6B O94805 VAR_082135 p.Gly349Ser LP/P rs955171017 Developmental and epileptic encephalopathy 76 (DEE76) [MIM:618468] ACTL7A Q9Y615 VAR_024362 p.Val340Met LB/B rs7872077 - ACTL7A Q9Y615 VAR_031425 p.Arg45Cys LB/B rs368653764 - ACTL7A Q9Y615 VAR_033460 p.Ala161Pro LB/B rs35995497 - ACTL7A Q9Y615 VAR_060998 p.Leu343Val LB/B rs56031956 - ACTL7A Q9Y615 VAR_085430 p.Ala245Thr LB/B rs371671871 - ACTL8 Q9H568 VAR_032079 p.Ala3Ser LB/B rs694214 - ACTL8 Q9H568 VAR_032080 p.Arg245Cys LB/B rs3795322 - ACTL9 Q8TC94 VAR_043000 p.Ser37Phe LB/B rs2340550 - ACTL9 Q8TC94 VAR_043001 p.Ala42Asp US - A colorectal cancer sample ACTL9 Q8TC94 VAR_043002 p.Ala51Val LB/B rs10410943 - ACTL9 Q8TC94 VAR_043003 p.Asn227His LB/B rs4804079 - ACTL9 Q8TC94 VAR_043004 p.Ala332Thr US rs782721280 A colorectal cancer sample ACTL9 Q8TC94 VAR_085431 p.Ser345Leu US - Spermatogenic failure 53 (SPGF53) [MIM:619258] ACTL9 Q8TC94 VAR_085432 p.Val380Leu US - Spermatogenic failure 53 (SPGF53) [MIM:619258] ACTN1 P12814 VAR_053883 p.Asn707Thr LB/B rs7157661 - ACTN1 P12814 VAR_053884 p.Thr868Ser LB/B rs11557769 - ACTN1 P12814 VAR_069910 p.Gln32Lys LP/P rs387907346 Bleeding disorder, platelet-type, 15 (BDPLT15) [MIM:615193] ACTN1 P12814 VAR_069911 p.Arg46Gln LP/P rs387907348 Bleeding disorder, platelet-type, 15 (BDPLT15) [MIM:615193] ACTN1 P12814 VAR_069912 p.Val105Ile LP/P rs387907345 Bleeding disorder, platelet-type, 15 (BDPLT15) [MIM:615193] ACTN1 P12814 VAR_069913 p.Arg197Trp LB/B rs904887313 - ACTN1 P12814 VAR_069914 p.Glu225Lys LP/P rs387907350 Bleeding disorder, platelet-type, 15 (BDPLT15) [MIM:615193] ACTN1 P12814 VAR_069915 p.Arg738Trp LP/P rs387907349 Bleeding disorder, platelet-type, 15 (BDPLT15) [MIM:615193] ACTN1 P12814 VAR_069916 p.Arg752Gln LP/P rs387907347 Bleeding disorder, platelet-type, 15 (BDPLT15) [MIM:615193] ACTN2 P35609 VAR_033487 p.Met604Val LB/B rs35997569 - ACTN2 P35609 VAR_054628 p.Gln9Arg LP/P rs121434525 Cardiomyopathy, dilated, 1AA, with or without left ventricular non-compaction (CMD1AA) [MIM:612158] ACTN2 P35609 VAR_071970 p.Ala119Thr LP/P rs727502886 Cardiomyopathy, dilated, 1AA, with or without left ventricular non-compaction (CMD1AA) [MIM:612158] ACTN2 P35609 VAR_071970 p.Ala119Thr LP/P rs727502886 Cardiomyopathy, familial hypertrophic, 23, with or without left ventricular non-compaction (CMH23) [MIM:612158] ACTN2 P35609 VAR_071971 p.Thr495Met LP/P rs200248944 Cardiomyopathy, familial hypertrophic, 23, with or without left ventricular non-compaction (CMH23) [MIM:612158] ACTN2 P35609 VAR_071972 p.Glu583Ala LP/P rs200631005 Cardiomyopathy, familial hypertrophic, 23, with or without left ventricular non-compaction (CMH23) [MIM:612158] ACTN2 P35609 VAR_071973 p.Glu628Gly LP/P rs786204951 Cardiomyopathy, familial hypertrophic, 23, with or without left ventricular non-compaction (CMH23) [MIM:612158] ACTN2 P35609 VAR_074292 p.Met228Thr LP/P rs786205144 Cardiomyopathy, familial hypertrophic, 23, with or without left ventricular non-compaction (CMH23) [MIM:612158] ACTN2 P35609 VAR_083364 p.Leu131Pro US rs1572114611 Myopathy, distal, 6, adult onset, autosomal dominant (MPD6) [MIM:618655] ACTN2 P35609 VAR_083365 p.Cys487Arg LP/P rs1572140109 Myopathy, distal, 6, adult onset, autosomal dominant (MPD6) [MIM:618655] ACTN2 P35609 VAR_083366 p.Leu727Arg LP/P rs1572148902 Congenital myopathy 8 (CMYP8) [MIM:618654] ACTN3 Q08043 VAR_012705 p.Arg523Gln LB/B rs1671064 - ACTN3 Q08043 VAR_033488 p.Glu635Ala LB/B rs2229456 - ACTN3 Q08043 VAR_047528 p.Cys628Arg LB/B rs618838 - ACTN3 Q08043 VAR_047529 p.Gln776Arg LB/B rs540874 - ACTN4 O43707 VAR_010378 p.Lys255Glu LP/P rs121908415 Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_010379 p.Thr259Ile LP/P rs121908416 Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_010380 p.Ser262Pro LP/P rs121908417 Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_072115 p.Ser262Phe LP/P - Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_072116 p.Ala427Thr LP/P rs201128110 Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_072117 p.Asn748Asp LP/P - Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_072118 p.Ala784Val US rs771421233 - ACTN4 O43707 VAR_072119 p.Gly786Arg LB/B - - ACTN4 O43707 VAR_072120 p.Pro787Leu LB/B - - ACTN4 O43707 VAR_072121 p.Pro787Ser LB/B - - ACTN4 O43707 VAR_072122 p.Cys793Tyr US - - ACTN4 O43707 VAR_072123 p.Gly798Asp US - - ACTN4 O43707 VAR_072124 p.Val801Met LB/B rs141727248 - ACTN4 O43707 VAR_079797 p.Trp59Arg LP/P - Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_079798 p.Glu72Gln LP/P - Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_079799 p.Phe153Leu US - Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_079800 p.Arg310Gln US rs112545413 Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTR1B P42025 VAR_025315 p.Val93Ala LB/B rs11547231 - ACTR1B P42025 VAR_048187 p.Ala143Val LB/B rs11692435 - ACTR3B Q9P1U1 VAR_048188 p.Arg250Gln LB/B rs2260545 - ACTR5 Q9H9F9 VAR_027158 p.Arg298Leu LB/B rs17853829 - ACTR5 Q9H9F9 VAR_027159 p.Ile483Val LB/B rs2245231 - ACTR5 Q9H9F9 VAR_027160 p.Pro580Leu LB/B rs3752289 - ACTR5 Q9H9F9 VAR_048189 p.Ile461Leu LB/B rs35805905 - ACTR8 Q9H981 VAR_028033 p.Thr56Ile LB/B rs3733082 - ACTRT1 Q8TDG2 VAR_080907 p.Glu124Lys US - - ACTRT2 Q8TDY3 VAR_020416 p.Gly247Arg LB/B rs3795263 - ACTRT3 Q9BYD9 VAR_055483 p.Glu234Lys LB/B rs2068178 - ACVR1 Q04771 VAR_028444 p.Arg206His LP/P rs121912678 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_041392 p.Ala15Gly LB/B rs13406336 - ACVR1 Q04771 VAR_041393 p.Ser41Phe LB/B rs55957214 - ACVR1 Q04771 VAR_041394 p.His47Gln LB/B rs34056189 - ACVR1 Q04771 VAR_041395 p.Pro115Ser US - A melanoma sample ACVR1 Q04771 VAR_058419 p.Arg202Ile LP/P rs387906591 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_058420 p.Gln207Glu LP/P - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_058421 p.Gly328Glu LP/P rs387906589 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_058422 p.Gly328Arg LP/P rs387906588 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_058423 p.Gly328Trp LP/P rs387906588 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_058424 p.Gly356Asp LP/P rs121912679 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_058425 p.Arg375Pro LP/P rs387906590 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1B P36896 VAR_011716 p.Leu408Val LB/B rs928906 - ACVR1B P36896 VAR_041406 p.Phe146Leu LB/B rs34488074 - ACVR1C Q8NER5 VAR_041407 p.Ile195Thr LB/B rs56188432 - ACVR1C Q8NER5 VAR_041408 p.Gly216Arg LB/B rs34742924 - ACVR1C Q8NER5 VAR_041409 p.Trp267Arg US - A lung squamous cell carcinoma sample ACVR1C Q8NER5 VAR_041410 p.Ile355Val LB/B rs35500979 - ACVR1C Q8NER5 VAR_041411 p.Ile482Val LB/B rs7594480 - ACVR2A P27037 VAR_032809 p.Ser258Arg LB/B rs34917571 - ACVR2A P27037 VAR_032810 p.Asp306Asn US rs764255410 A gastric adenocarcinoma sample ACVR2A P27037 VAR_064692 p.Ala367Thr US - - ACVR2B Q13705 VAR_013281 p.Arg40His LP/P rs121434437 Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751] ACVR2B Q13705 VAR_013282 p.Val494Ile LP/P rs121434438 Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751] ACVR2B Q13705 VAR_041396 p.Pro176Arg LB/B rs35882617 - ACVR2B Q13705 VAR_050594 p.Glu459Asp LB/B rs500611 - ACVRL1 P37023 VAR_006204 p.Trp50Cys LP/P rs121909285 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006205 p.Cys51Tyr LP/P rs863223409 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006206 p.Arg67Gln LP/P rs863223414 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006207 p.Cys77Trp LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006208 p.Asn96Asp LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006210 p.Ser333Ile LP/P rs863223413 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006211 p.Arg374Trp LP/P rs28936401 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006212 p.Met376Arg LP/P rs28936399 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006213 p.Arg411Gln LP/P rs121909284 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006214 p.Pro424Thr LP/P rs1085307419 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_011717 p.Ile245Asn LB/B rs1804508 - ACVRL1 P37023 VAR_026785 p.Gly48Arg LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026786 p.Arg67Trp LP/P rs1085307405 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026787 p.Asp179Ala LP/P rs753792569 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026788 p.Gly211Asp LP/P rs28936687 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026789 p.Glu215Lys LP/P rs754283265 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026790 p.Gly223Arg LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026791 p.Lys229Arg LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026794 p.Leu285Phe LP/P rs1085307410 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026795 p.Ala306Pro LP/P rs1940807179 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026796 p.His314Tyr LP/P rs1565594311 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026797 p.Leu337Pro LP/P rs1592224349 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026798 p.Cys344Tyr LP/P rs28936688 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026799 p.Ala347Pro LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026800 p.Arg374Gln LP/P rs1060503248 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026801 p.Met376Val LP/P rs1555153277 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026802 p.Pro378Leu LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026803 p.Glu379Lys LP/P rs1131691686 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026804 p.Asp397Gly LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026805 p.Ile398Asn LP/P rs121909286 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026806 p.Trp399Ser LP/P rs121909289 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026807 p.Glu407Asp LP/P rs1565595129 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026808 p.Arg411Pro LP/P rs121909284 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026809 p.Arg411Trp LP/P rs121909287 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026810 p.Phe425Leu LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026811 p.Phe425Val LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026813 p.Arg479Leu LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026814 p.Ala482Val LP/P rs139142865 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026815 p.Arg484Trp LP/P rs121909288 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026816 p.Lys487Thr LP/P rs1085307428 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070308 p.Pro30Ser US rs149664056 - ACVRL1 P37023 VAR_070309 p.Cys34Tyr LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070310 p.Ser38Cys LB/B - - ACVRL1 P37023 VAR_070311 p.Trp50Gly LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070312 p.Thr52Ala LP/P rs1131691346 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070313 p.His66Pro LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070314 p.Cys69Arg LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070315 p.Asn96Ser LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070316 p.Leu138Pro LB/B - - ACVRL1 P37023 VAR_070317 p.Asp176Tyr LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070318 p.Thr197Ile LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070319 p.Trp217Gly LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070320 p.Gly219Asp LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070321 p.Val226Glu LP/P rs1565593639 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070322 p.Ser233Leu LP/P rs762773076 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070323 p.Gln237Lys LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070324 p.Ile260Leu LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070325 p.Thr265Pro LP/P rs1592223978 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070326 p.Thr277Lys US - - ACVRL1 P37023 VAR_070327 p.His280Arg LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070328 p.Leu289Pro LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070329 p.Leu294Arg LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070330 p.His328Gln LP/P rs1565594410 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070331 p.Asn335His LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070332 p.Leu342Pro LB/B rs762287966 - ACVRL1 P37023 VAR_070333 p.Cys344Arg LP/P rs1592224412 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070334 p.Ala347Asp LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070335 p.Pro378Ser LP/P rs959973779 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070336 p.Ala400Thr US - - ACVRL1 P37023 VAR_070337 p.Leu403Pro LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070338 p.Gly416Ser LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070339 p.Pro424Arg LP/P rs1940906429 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070340 p.Tyr426Cys LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070341 p.Pro433Arg LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070342 p.Pro449Ser LP/P rs1940908457 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070343 p.Arg479Pro LP/P rs1085307426 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070344 p.Lys486Glu US rs113700354 - ACVRL1 P37023 VAR_075231 p.Cys41Gly LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075232 p.Cys41Tyr LP/P rs1184716348 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075233 p.Cys46Gly LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075234 p.Arg47Pro LP/P rs774389618 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075235 p.His66Tyr LP/P rs1480110873 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075236 p.Cys77Phe LP/P rs1330837892 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075237 p.Glu111Asp LB/B rs1481094868 - ACVRL1 P37023 VAR_075238 p.Gly211Ser LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075239 p.Ile245Val LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075240 p.Leu313Val LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075241 p.Glu379Asp LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075242 p.Val404Gly LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075243 p.Ile417Phe LB/B rs141653630 - ACVRL1 P37023 VAR_075244 p.Val441Met LP/P rs1565596498 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075245 p.Cys443Tyr LP/P - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_079583 p.Lys8Asn LB/B - - ACVRL1 P37023 VAR_079584 p.Glu59Val US rs1466116430 - ACVRL1 P37023 VAR_079585 p.Glu159Val US - - ACVRL1 P37023 VAR_079586 p.Ser225Cys US - - ACVRL1 P37023 VAR_079587 p.Thr396Ala US - - ACY1 Q03154 VAR_020452 p.Arg386Cys LP/P rs2229152 Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_026104 p.Glu233Asp LP/P rs121912699 Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_026105 p.Arg353Cys LP/P rs121912698 Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_036076 p.Glu381Asp US - A breast cancer sample ACY1 Q03154 VAR_043113 p.Arg197Trp LP/P rs121912700 Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_043114 p.Arg393His LP/P rs121912701 Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_051805 p.Asn179Ser LB/B rs887540 - ACY1 Q03154 VAR_065562 p.Arg378Gln LP/P rs150480963 Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_065563 p.Arg378Trp LP/P rs148346337 Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY3 Q96HD9 VAR_048341 p.Arg8Gln LB/B rs948445 - ACY3 Q96HD9 VAR_048342 p.Val281Met LB/B rs2290959 - ADA P00813 VAR_002209 p.Asp8Asn LB/B rs73598374 - ADA P00813 VAR_002210 p.His15Asp LP/P rs121908725 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002211 p.Gly20Arg LP/P rs121908724 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002212 p.Gly74Cys LP/P rs121908730 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002213 p.Arg76Trp LP/P rs121908736 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002214 p.Lys80Arg LB/B rs11555566 - ADA P00813 VAR_002215 p.Ala83Asp LP/P rs121908726 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002216 p.Arg101Leu LP/P rs121908714 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002217 p.Arg101Trp LP/P rs121908717 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002218 p.Arg101Gln LP/P rs121908714 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002219 p.Leu107Pro LP/P rs121908739 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002220 p.Val129Met LP/P rs121908731 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002221 p.Gly140Glu LP/P rs121908732 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002222 p.Arg142Gln US rs61732239 A pancreatic ductal adenocarcinoma sample ADA P00813 VAR_002223 p.Arg149Gln LP/P rs121908737 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002224 p.Arg149Trp LP/P rs121908733 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002225 p.Leu152Met LB/B rs121908728 - ADA P00813 VAR_002226 p.Arg156Cys LP/P rs121908735 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002227 p.Arg156His LP/P rs121908722 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002228 p.Val177Met LP/P rs121908719 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002229 p.Ala179Asp LP/P rs121908727 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002230 p.Gln199Pro LP/P rs121908734 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002231 p.Arg211Cys LP/P rs121908740 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002232 p.Arg211His LP/P rs121908716 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002233 p.Ala215Thr LP/P rs114025668 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002234 p.Gly216Arg LP/P rs121908723 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002235 p.Thr233Ile LB/B rs121908729 - ADA P00813 VAR_002236 p.Pro274Leu LP/P rs121908738 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002237 p.Ser291Leu LP/P rs121908721 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002238 p.Pro297Gln LP/P rs121908718 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002239 p.Leu304Arg LP/P rs199422327 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002240 p.Ala329Val LP/P rs121908715 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_076954 p.Tyr97Cys US rs267606634 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_076955 p.Leu106Val US rs267606635 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA2 Q9NZK5 VAR_029802 p.His335Arg LB/B rs2231495 - ADA2 Q9NZK5 VAR_071137 p.Gly47Arg LP/P rs202134424 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688] ADA2 Q9NZK5 VAR_071138 p.Gly47Val LP/P rs200930463 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688] ADA2 Q9NZK5 VAR_071139 p.Ala109Asp LP/P rs587777240 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688] ADA2 Q9NZK5 VAR_071140 p.His112Gln LP/P rs587777241 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688] ADA2 Q9NZK5 VAR_071141 p.Arg169Gln LP/P rs77563738 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688] ADA2 Q9NZK5 VAR_071142 p.Pro251Leu LP/P rs148936893 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688] ADA2 Q9NZK5 VAR_071143 p.Trp264Ser LP/P rs587777242 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688] ADA2 Q9NZK5 VAR_071144 p.Tyr453Cys LP/P rs376785840 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688] ADA2 Q9NZK5 VAR_072562 p.Val119Ala LP/P - Sneddon syndrome (SNDNS) [MIM:182410] ADA2 Q9NZK5 VAR_072563 p.Gly142Ser LP/P - Sneddon syndrome (SNDNS) [MIM:182410] ADAD2 Q8NCV1 VAR_036976 p.Gly44Glu LB/B rs8044695 - ADAD2 Q8NCV1 VAR_055650 p.Gly235Arg LB/B rs11149631 - ADAM10 O14672 VAR_066309 p.His176Tyr US rs267604273 A cutaneous metastatic melanoma sample ADAM10 O14672 VAR_070907 p.Pro139Ser LP/P rs483352912 Reticulate acropigmentation of Kitamura (RAK) [MIM:615537] ADAM10 O14672 VAR_070908 p.Gln170His LP/P rs61751103 Alzheimer disease 18 (AD18) [MIM:615590] ADAM10 O14672 VAR_070909 p.Arg181Gly LP/P rs145518263 Alzheimer disease 18 (AD18) [MIM:615590] ADAM10 O14672 VAR_070910 p.Cys524Tyr LP/P rs483352916 Reticulate acropigmentation of Kitamura (RAK) [MIM:615537] ADAM11 O75078 VAR_062669 p.Ser693Arg US - A pancreatic ductal adenocarcinoma sample ADAM12 O43184 VAR_036143 p.Asp301His US - A breast cancer sample ADAM12 O43184 VAR_036144 p.Gly479Glu US rs1459457663 A breast cancer sample ADAM12 O43184 VAR_036145 p.Leu792Phe US - A breast cancer sample ADAM12 O43184 VAR_038542 p.Gly48Arg LB/B rs3740199 - ADAM12 O43184 VAR_066310 p.Gly712Glu US - A cutaneous metastatic melanoma sample ADAM12 O43184 VAR_066311 p.Pro893Ser US rs151030407 A cutaneous metastatic melanoma sample ADAM15 Q13444 VAR_060315 p.Lys191Thr LB/B rs6427128 - ADAM15 Q13444 VAR_060316 p.Pro294His LB/B rs2306122 - ADAM15 Q13444 VAR_068970 p.Glu216Lys LB/B rs115753757 - ADAM17 P78536 VAR_051586 p.Lys162Glu LB/B rs34431503 - ADAM17 P78536 VAR_051587 p.Arg202Gly LB/B rs2230818 - ADAM18 Q9Y3Q7 VAR_051588 p.Val212Phe LB/B rs10093794 - ADAM18 Q9Y3Q7 VAR_066312 p.Pro170Ser US rs267601916 A cutaneous metastatic melanoma sample ADAM18 Q9Y3Q7 VAR_066313 p.Val284Gly US - A cutaneous metastatic melanoma sample ADAM18 Q9Y3Q7 VAR_066314 p.Met344Ile US rs267601918 A cutaneous metastatic melanoma sample ADAM18 Q9Y3Q7 VAR_066315 p.Met362Lys US - A cutaneous metastatic melanoma sample ADAM18 Q9Y3Q7 VAR_066316 p.Ser536Leu US - A cutaneous metastatic melanoma sample ADAM19 Q9H013 VAR_036146 p.Arg133Gln US rs200894535 A colorectal cancer sample ADAM19 Q9H013 VAR_036147 p.Ala298Thr US rs1178207005 A colorectal cancer sample ADAM19 Q9H013 VAR_057066 p.Gly4Ser LB/B rs11465228 - ADAM19 Q9H013 VAR_062670 p.His609Gln US - A pancreatic ductal adenocarcinoma sample ADAM2 Q99965 VAR_035217 p.Gly10Trp LB/B rs34800519 - ADAM20 O43506 VAR_047311 p.Phe19Leu LB/B rs1059166 - ADAM22 Q9P0K1 VAR_020057 p.Pro81Arg LB/B rs2279542 - ADAM22 Q9P0K1 VAR_051589 p.His119Tyr LB/B rs4728730 - ADAM22 Q9P0K1 VAR_051590 p.Val207Ile LB/B rs17255978 - ADAM22 Q9P0K1 VAR_080496 p.Cys401Tyr US rs747259064 Developmental and epileptic encephalopathy 61 (DEE61) [MIM:617933] ADAM28 Q9UKQ2 VAR_024596 p.Val765Met LB/B rs7814768 - ADAM28 Q9UKQ2 VAR_057067 p.Arg219Met LB/B rs9314282 - ADAM28 Q9UKQ2 VAR_057068 p.Glu226Asp LB/B rs17736699 - ADAM28 Q9UKQ2 VAR_057069 p.Asn493Ser LB/B rs7001647 - ADAM28 Q9UKQ2 VAR_057070 p.Thr593Lys LB/B rs36041430 - ADAM28 Q9UKQ2 VAR_057071 p.Thr604Pro LB/B rs35617826 - ADAM28 Q9UKQ2 VAR_057072 p.Met684Ile LB/B rs7829965 - ADAM28 Q9UKQ2 VAR_066317 p.Gly65Glu US - A cutaneous metastatic melanoma sample ADAM28 Q9UKQ2 VAR_066318 p.Gly134Glu US rs267601860 A cutaneous metastatic melanoma sample ADAM28 Q9UKQ2 VAR_066319 p.Gly450Glu US rs267601862 A cutaneous metastatic melanoma sample ADAM28 Q9UKQ2 VAR_066320 p.Ser482Phe US - A cutaneous metastatic melanoma sample ADAM28 Q9UKQ2 VAR_066321 p.Gly502Asp US rs267601864 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_036148 p.Pro31Leu US rs544557652 A colorectal cancer sample ADAM29 Q9UKF5 VAR_036149 p.Val205Ile US rs772388824 A colorectal cancer sample ADAM29 Q9UKF5 VAR_066322 p.Leu72Phe US - A melanoma cell line ADAM29 Q9UKF5 VAR_066323 p.Ile89Met US - A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066324 p.Glu111Lys US rs267600087 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066325 p.Ser112Phe US - A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066326 p.Ser115Phe US - A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066327 p.Asp131Asn US - A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066328 p.Glu176Lys US rs899870236 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066329 p.Ser234Phe US rs866380131 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066330 p.Ile257Phe US rs140083180 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066331 p.Gly305Glu US rs267600089 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066332 p.Asp345Asn US rs267600090 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066333 p.Gly403Asp US rs150047888 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066334 p.Gly434Asp US rs267600091 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066335 p.Glu503Lys US - A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066336 p.His533Tyr US rs267600093 A cutaneous metastatic melanoma sample ADAM30 Q9UKF2 VAR_024597 p.Leu359Pro LB/B rs2641348 - ADAM30 Q9UKF2 VAR_061738 p.Thr737Ala LB/B rs35273427 - ADAM32 Q8TC27 VAR_051591 p.Thr467Ser LB/B rs7845771 - ADAM32 Q8TC27 VAR_055241 p.Gln98Arg LB/B rs17856744 - ADAM32 Q8TC27 VAR_055242 p.Ser160Gly LB/B rs17852343 - ADAM32 Q8TC27 VAR_055243 p.Leu327Val LB/B rs9643859 - ADAM32 Q8TC27 VAR_055244 p.Lys658Asn LB/B rs13277386 - ADAM32 Q8TC27 VAR_061739 p.Asp778Glu LB/B rs28705715 - ADAM33 Q9BZ11 VAR_021847 p.Met764Thr LB/B rs2280091 - ADAM33 Q9BZ11 VAR_029143 p.Thr178Ala LB/B rs3918392 - ADAM33 Q9BZ11 VAR_029144 p.Pro774Ser LB/B rs2280090 - ADAM33 Q9BZ11 VAR_030512 p.Asn109Ser LB/B rs41467948 - ADAM33 Q9BZ11 VAR_030513 p.Thr272Met LB/B rs41534847 - ADAM33 Q9BZ11 VAR_030514 p.Val316Ile LB/B rs41459049 - ADAM33 Q9BZ11 VAR_030515 p.Pro336Ser LB/B rs41483049 - ADAM33 Q9BZ11 VAR_030516 p.Ala365Ser LB/B rs41419248 - ADAM33 Q9BZ11 VAR_030517 p.Asp441Glu LB/B rs41382144 - ADAM33 Q9BZ11 VAR_030518 p.Trp515Arg LB/B rs615436 - ADAM33 Q9BZ11 VAR_030519 p.Leu612His LB/B rs41453444 - ADAM33 Q9BZ11 VAR_030520 p.Val710Ile LB/B rs3918396 - ADAM33 Q9BZ11 VAR_030521 p.Cys739Gly LB/B rs41434648 - ADAM33 Q9BZ11 VAR_030522 p.Asp742Tyr LB/B rs41462450 - ADAM33 Q9BZ11 VAR_066337 p.Ala305Val US rs1169229302 A cutaneous metastatic melanoma sample ADAM7 Q9H2U9 VAR_046728 p.Glu25Gln LB/B rs34852692 - ADAM7 Q9H2U9 VAR_046729 p.Ile205Val LB/B rs7829386 - ADAM7 Q9H2U9 VAR_046730 p.Val244Met LB/B rs13255694 - ADAM7 Q9H2U9 VAR_046731 p.Ile453Thr LB/B rs3736281 - ADAM7 Q9H2U9 VAR_046732 p.Leu570Val LB/B rs2307044 - ADAM7 Q9H2U9 VAR_046733 p.Asn638His LB/B rs13259668 - ADAM7 Q9H2U9 VAR_046734 p.Leu735Pro LB/B rs6980829 - ADAM7 Q9H2U9 VAR_066296 p.Pro14Ser US rs150319320 A cutaneous metastatic melanoma sample ADAM7 Q9H2U9 VAR_066297 p.Arg31Cys US rs137990671 A cutaneous metastatic melanoma sample ADAM7 Q9H2U9 VAR_066298 p.Pro36Ser US rs267601866 A cutaneous metastatic melanoma sample ADAM7 Q9H2U9 VAR_066299 p.His106Tyr US rs267601867 A cutaneous metastatic melanoma sample ADAM7 Q9H2U9 VAR_066300 p.Leu173Pro US - - ADAM7 Q9H2U9 VAR_066301 p.Val180Ala US - A cutaneous metastatic melanoma sample ADAM7 Q9H2U9 VAR_066302 p.His243Tyr US - A cutaneous metastatic melanoma sample ADAM7 Q9H2U9 VAR_066303 p.Gly302Glu US - A cutaneous metastatic melanoma sample ADAM7 Q9H2U9 VAR_066304 p.Met359Ile US rs267601868 A cutaneous metastatic melanoma sample ADAM7 Q9H2U9 VAR_066305 p.Gly533Glu US rs867202281 A cutaneous metastatic melanoma sample ADAM7 Q9H2U9 VAR_066306 p.Phe593Leu US - - ADAM7 Q9H2U9 VAR_066307 p.Glu639Lys US rs1034941983 A cutaneous metastatic melanoma sample ADAM7 Q9H2U9 VAR_066308 p.Ser703Asn US - A cutaneous metastatic melanoma sample ADAM8 P78325 VAR_059760 p.Gly101Arg LB/B rs11101675 - ADAM8 P78325 VAR_061735 p.Arg189Trp LB/B rs45451297 - ADAM8 P78325 VAR_061736 p.Arg433Cys LB/B rs12257830 - ADAM8 P78325 VAR_061737 p.Ile775Thr LB/B rs3008319 - ADAM8 P78325 VAR_069144 p.Trp35Arg LB/B rs2275725 - ADAM8 P78325 VAR_069145 p.Phe657Leu LB/B rs2275720 - ADAMDEC1 O15204 VAR_021848 p.Asn444Ser LB/B rs3765124 - ADAMDEC1 O15204 VAR_024598 p.Met121Thr LB/B rs7007084 - ADAMTS1 Q9UHI8 VAR_030001 p.Ala227Pro LB/B rs428785 - ADAMTS10 Q9H324 VAR_054439 p.Ala25Thr LP/P - Weill-Marchesani syndrome 1 (WMS1) [MIM:277600] ADAMTS10 Q9H324 VAR_054440 p.Arg119Gln LB/B rs3814291 - ADAMTS10 Q9H324 VAR_054441 p.Thr134Ser LB/B rs7255721 - ADAMTS12 P58397 VAR_057074 p.Gln110Glu LB/B rs16891862 - ADAMTS12 P58397 VAR_057075 p.Arg1000Gln LB/B rs13362345 - ADAMTS12 P58397 VAR_058972 p.Thr1495Ile LB/B rs25754 - ADAMTS12 P58397 VAR_059761 p.Trp1177Arg LB/B rs3813474 - ADAMTS12 P58397 VAR_059762 p.Ser1591Pro LB/B rs16891281 - ADAMTS13 Q76LX8 VAR_027109 p.Arg7Trp LB/B rs34024143 - ADAMTS13 Q76LX8 VAR_027110 p.Val88Met LP/P rs281875302 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027111 p.His96Asp LP/P rs121908467 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027112 p.Arg102Cys LP/P rs121908469 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027113 p.Arg193Trp LP/P rs281875287 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027114 p.Thr196Ile LP/P rs121908470 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027115 p.His234Gln LP/P rs281875304 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027116 p.Ala250Val LP/P rs121908478 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027117 p.Arg268Pro LP/P rs121908477 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027118 p.Trp390Cys LP/P rs281875306 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027119 p.Arg398His LP/P rs121908471 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027120 p.Gln448Glu LB/B rs2301612 - ADAMTS13 Q76LX8 VAR_027121 p.Pro475Ser LB/B rs11575933 - ADAMTS13 Q76LX8 VAR_027122 p.Cys508Tyr LP/P rs281875305 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027123 p.Arg528Gly LP/P rs121908473 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027124 p.Pro618Ala LB/B rs28647808 - ADAMTS13 Q76LX8 VAR_027125 p.Arg625His LB/B rs36090624 - ADAMTS13 Q76LX8 VAR_027126 p.Ile673Phe LP/P rs281875307 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027127 p.Arg692Cys LP/P rs121908475 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027128 p.Ala732Val LB/B rs41314453 - ADAMTS13 Q76LX8 VAR_027129 p.Ala900Val LB/B rs685523 - ADAMTS13 Q76LX8 VAR_027130 p.Ser903Leu LB/B rs78977446 - ADAMTS13 Q76LX8 VAR_027131 p.Cys908Tyr LP/P rs281875301 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027132 p.Cys951Gly LP/P rs121908468 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027133 p.Cys1024Gly LP/P rs121908472 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027134 p.Ala1033Thr LB/B rs28503257 - ADAMTS13 Q76LX8 VAR_027135 p.Arg1095Trp LB/B rs782383410 - ADAMTS13 Q76LX8 VAR_027136 p.Arg1123Cys LP/P rs281875340 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027137 p.Cys1213Tyr LP/P rs121908474 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027138 p.Gly1239Val LP/P rs281875303 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027139 p.Arg1336Trp LP/P rs281875308 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027162 p.Gln456His LB/B rs36220239 - ADAMTS13 Q76LX8 VAR_027163 p.Pro457Leu LB/B rs36220240 - ADAMTS13 Q76LX8 VAR_027164 p.Glu740Lys LB/B rs36221451 - ADAMTS13 Q76LX8 VAR_027165 p.Gly982Arg LB/B rs36222275 - ADAMTS13 Q76LX8 VAR_027166 p.Thr1226Ile LB/B rs36222894 - ADAMTS13 Q76LX8 VAR_067770 p.Ile79Met LP/P rs281875297 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067771 p.Ser119Phe LP/P rs281875291 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067772 p.Ile178Thr LP/P rs281875289 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067773 p.Ser203Pro LP/P rs281875298 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067774 p.Leu232Gln LP/P rs281875292 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067775 p.Asp235His LP/P rs281875337 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067776 p.Ser263Cys LP/P rs281875293 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067777 p.Tyr304Cys LP/P rs281875285 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067778 p.Cys311Tyr LP/P rs281875336 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067779 p.Thr339Arg LB/B rs149517360 - ADAMTS13 Q76LX8 VAR_067780 p.Cys347Ser LP/P rs281875294 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067781 p.Arg349Cys LP/P rs281875288 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067782 p.Pro353Leu LP/P rs281875338 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067783 p.Arg507Gln LP/P rs281875296 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067784 p.Gly525Asp LP/P rs281875286 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067785 p.Ala596Val LP/P rs281875299 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067786 p.Ala606Pro LP/P rs281875290 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067787 p.Tyr658Cys LP/P rs281875335 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067788 p.Pro671Leu LP/P rs281875295 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067789 p.Cys758Arg LP/P rs281875300 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067790 p.Cys908Ser LP/P rs281875301 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067792 p.Arg1060Trp LP/P rs142572218 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067793 p.Arg1219Trp LP/P rs281875339 Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067794 p.Ser1314Leu LB/B rs142060916 - ADAMTS14 Q8WXS8 VAR_047837 p.Arg179Cys LB/B rs34022601 - ADAMTS14 Q8WXS8 VAR_047838 p.Leu590Pro LB/B rs10823607 - ADAMTS14 Q8WXS8 VAR_047839 p.Leu937Met LB/B rs12774070 - ADAMTS14 Q8WXS8 VAR_047840 p.Ser1017Asn LB/B rs10999516 - ADAMTS14 Q8WXS8 VAR_047841 p.Glu1049Gly LB/B rs4747096 - ADAMTS15 Q8TE58 VAR_036150 p.Gln770Arg US rs776537988 A colorectal cancer sample ADAMTS15 Q8TE58 VAR_036151 p.Cys878Gly US - A colorectal cancer sample ADAMTS15 Q8TE58 VAR_051594 p.Asn623Ser LB/B rs11222114 - ADAMTS16 Q8TE57 VAR_057076 p.Met110Val LB/B rs1863968 - ADAMTS16 Q8TE57 VAR_057077 p.Ala486Thr LB/B rs16875054 - ADAMTS16 Q8TE57 VAR_057078 p.Arg789Cys LB/B rs9313105 - ADAMTS16 Q8TE57 VAR_057079 p.Arg859Leu LB/B rs16875122 - ADAMTS16 Q8TE57 VAR_057080 p.Glu863Lys LB/B rs35394775 - ADAMTS17 Q8TE56 VAR_057081 p.Ser216Leu LB/B rs7496668 - ADAMTS17 Q8TE56 VAR_057082 p.Met482Thr LB/B rs28567966 - ADAMTS17 Q8TE56 VAR_060317 p.Asn1094Ser LB/B rs2573652 - ADAMTS17 Q8TE56 VAR_064041 p.Arg566Thr LB/B - - ADAMTS18 Q8TE60 VAR_036152 p.Arg382Lys US rs368783738 A colorectal cancer sample ADAMTS18 Q8TE60 VAR_036153 p.Lys455Thr US rs776584074 A colorectal cancer sample ADAMTS18 Q8TE60 VAR_057083 p.Leu769Ile LB/B rs9930984 - ADAMTS18 Q8TE60 VAR_057084 p.Ala946Ser LB/B rs12935394 - ADAMTS18 Q8TE60 VAR_057085 p.Ser1080Arg LB/B rs35478105 - ADAMTS18 Q8TE60 VAR_057086 p.Ser1159Thr LB/B rs3743749 - ADAMTS18 Q8TE60 VAR_060231 p.Tyr191His LB/B rs11643211 - ADAMTS18 Q8TE60 VAR_060232 p.Leu626Ile LB/B rs11640912 - ADAMTS18 Q8TE60 VAR_066554 p.Ser179Leu LB/B rs387906972 - ADAMTS18 Q8TE60 VAR_070849 p.Leu202Pro LP/P rs397515468 Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458] ADAMTS18 Q8TE60 VAR_070850 p.Cys577Trp LP/P rs148319220 Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458] ADAMTS19 Q8TE59 VAR_024599 p.Tyr1089Phe LB/B rs11749126 - ADAMTS19 Q8TE59 VAR_036154 p.Leu360Ile US - A breast cancer sample ADAMTS19 Q8TE59 VAR_057087 p.Glu582Gly LB/B rs10062501 - ADAMTS2 O95450 VAR_020058 p.Val245Ile LB/B rs398829 - ADAMTS2 O95450 VAR_020059 p.Pro1177Ser LB/B rs1054480 - ADAMTS2 O95450 VAR_047927 p.Val74Met LB/B rs2271211 - ADAMTS2 O95450 VAR_047928 p.Arg241His LB/B rs11750821 - ADAMTS2 O95450 VAR_047929 p.Glu331Lys LB/B rs17667857 - ADAMTS2 O95450 VAR_047930 p.Gly665Arg LB/B rs35372714 - ADAMTS2 O95450 VAR_047931 p.Arg827Gln LB/B rs35445112 - ADAMTS20 P59510 VAR_057088 p.Lys876Met LB/B rs7302446 - ADAMTS20 P59510 VAR_057089 p.Arg1000His LB/B rs7297737 - ADAMTS20 P59510 VAR_057090 p.Ser1273Phe LB/B rs7310011 - ADAMTS3 O15072 VAR_055012 p.Arg138Lys LB/B rs788908 - ADAMTS3 O15072 VAR_055013 p.Ser1074Pro LB/B rs35864003 - ADAMTS3 O15072 VAR_081558 p.Leu168Pro LP/P rs1177851177 Hennekam lymphangiectasia-lymphedema syndrome 3 (HKLLS3) [MIM:618154] ADAMTS3 O15072 VAR_081559 p.Ile291Thr LP/P rs61757480 Hennekam lymphangiectasia-lymphedema syndrome 3 (HKLLS3) [MIM:618154] ADAMTS4 O75173 VAR_022450 p.Gln626Arg LB/B rs4233367 - ADAMTS4 O75173 VAR_030636 p.Thr4Ile LB/B rs17855814 - ADAMTS4 O75173 VAR_030637 p.Asp304Asn LB/B rs17855813 - ADAMTS4 O75173 VAR_030638 p.Met369Val LB/B rs17855812 - ADAMTS4 O75173 VAR_030639 p.Pro552Thr LB/B rs17855815 - ADAMTS4 O75173 VAR_030640 p.Thr564Ala LB/B rs17855816 - ADAMTS4 O75173 VAR_030641 p.Arg836Lys LB/B rs11807350 - ADAMTS4 O75173 VAR_057073 p.Ala77Thr LB/B rs34448954 - ADAMTS5 Q9UNA0 VAR_021849 p.Arg614His LB/B rs2830585 - ADAMTS5 Q9UNA0 VAR_028199 p.Gly138Ala LB/B rs457947 - ADAMTS5 Q9UNA0 VAR_028200 p.Leu692Pro LB/B rs226794 - ADAMTS7 Q9UKP4 VAR_046112 p.Ser214Pro LB/B rs3825807 - ADAMTS7 Q9UKP4 VAR_046113 p.Thr307Met LB/B rs2127898 - ADAMTS7 Q9UKP4 VAR_046114 p.Thr1319Ala LB/B rs11630236 - ADAMTS7 Q9UKP4 VAR_046115 p.Gly1414Ser LB/B rs2929155 - ADAMTS7 Q9UKP4 VAR_046116 p.Gly1583Ala LB/B rs7495616 - ADAMTS9 Q9P2N4 VAR_047081 p.Ser96Pro LB/B rs36115950 - ADAMTS9 Q9P2N4 VAR_047082 p.Lys1579Glu LB/B rs17071010 - ADAMTS9 Q9P2N4 VAR_047083 p.Asp1674Glu LB/B rs6787633 - ADAMTS9 Q9P2N4 VAR_047084 p.Lys1740Arg LB/B rs17070967 - ADAMTS9 Q9P2N4 VAR_047085 p.Glu1791Gln LB/B rs3796381 - ADAMTS9 Q9P2N4 VAR_047086 p.Arg1933Gln LB/B rs17070905 - ADAMTS9 Q9P2N4 VAR_051592 p.Ser96Thr LB/B rs36115950 - ADAMTS9 Q9P2N4 VAR_051593 p.Lys1921Glu LB/B rs17070909 - ADAMTSL1 Q8N6G6 VAR_017174 p.Ser242Asn LB/B rs776755 - ADAMTSL2 Q86TH1 VAR_046011 p.Val364Ile LB/B rs35767802 - ADAMTSL2 Q86TH1 VAR_054874 p.Arg113His LP/P rs113994122 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_054875 p.Glu114Lys LP/P rs113994123 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_054876 p.Pro147Leu LP/P rs113994121 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_054877 p.Gly811Arg LP/P rs113994124 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_066543 p.Trp50Cys LP/P rs1395219766 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_066544 p.Arg72Gln LP/P rs387907064 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_066545 p.Arg159Trp LP/P rs776178041 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_066546 p.Ala165Thr LP/P rs764516811 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_066547 p.Cys171Arg LP/P - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_066548 p.Arg221Cys LP/P rs387907065 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_066549 p.Ala239Thr LP/P - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_066551 p.Arg593Cys LP/P - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_066552 p.Ser635Leu LP/P - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_066553 p.Pro906Leu LP/P rs969732840 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL3 P82987 VAR_027478 p.His146Arg LB/B rs4483821 - ADAMTSL3 P82987 VAR_027479 p.Leu290Val LB/B rs4144691 - ADAMTSL3 P82987 VAR_027480 p.Val661Leu LB/B rs4842838 - ADAMTSL3 P82987 VAR_027481 p.Arg855His LB/B rs2277848 - ADAMTSL3 P82987 VAR_027482 p.Leu869Phe LB/B rs2277849 - ADAMTSL3 P82987 VAR_027483 p.Thr1370Ala LB/B rs17158450 - ADAMTSL3 P82987 VAR_027484 p.Met1558Thr LB/B rs7175910 - ADAMTSL3 P82987 VAR_027485 p.Thr1660Ile LB/B rs950169 - ADAMTSL3 P82987 VAR_027486 p.Arg1679His LB/B rs11857906 - ADAMTSL3 P82987 VAR_035809 p.Val330Met US rs1439091253 A colorectal cancer sample ADAMTSL3 P82987 VAR_035810 p.Arg587His US rs142860011 A colorectal cancer sample ADAMTSL3 P82987 VAR_035811 p.Arg855Cys US rs146769560 A colorectal cancer sample ADAMTSL3 P82987 VAR_035812 p.Ala1315Glu US - A colorectal cancer sample ADAMTSL3 P82987 VAR_057365 p.Gly713Arg LB/B rs34047645 - ADAMTSL4 Q6UY14 VAR_061918 p.Ala193Pro LB/B rs41317515 - ADAMTSL4 Q6UY14 VAR_061919 p.Arg1028His LB/B rs56411234 - ADAP1 O75689 VAR_047470 p.Gly241Ser LB/B rs10256887 - ADAR P55265 VAR_017240 p.Lys384Arg LB/B rs2229857 - ADAR P55265 VAR_017604 p.Leu923Pro LP/P rs28936680 Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400] ADAR P55265 VAR_017605 p.Phe1165Ser LP/P rs28936681 Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400] ADAR P55265 VAR_021729 p.Cys966Phe LP/P - Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400] ADAR P55265 VAR_024407 p.Tyr587Cys LB/B rs17843865 - ADAR P55265 VAR_026669 p.Arg1155Trp LP/P rs1044845711 Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400] ADAR P55265 VAR_035805 p.Glu806Val US rs144119808 A breast cancer sample ADAR P55265 VAR_048725 p.Arg100Gly LB/B rs1466731 - ADAR P55265 VAR_069535 p.Pro193Ala LP/P rs145588689 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] ADAR P55265 VAR_069536 p.Ala870Thr LP/P rs398122893 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] ADAR P55265 VAR_069537 p.Ile872Thr LP/P rs398122897 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] ADAR P55265 VAR_069538 p.Arg892His LP/P rs398122892 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] ADAR P55265 VAR_069539 p.Lys999Asn LP/P rs398122896 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] ADAR P55265 VAR_069540 p.Gly1007Arg LP/P rs398122822 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] ADAR P55265 VAR_069541 p.Tyr1112Phe LP/P rs398122895 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] ADAR P55265 VAR_069542 p.Asp1113His LP/P rs398122894 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] ADARB1 P78563 VAR_070931 p.Val224Ala LB/B rs199697177 - ADARB1 P78563 VAR_083947 p.Lys127Glu US - Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) [MIM:618862] ADARB1 P78563 VAR_083948 p.Lys367Asn US - Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) [MIM:618862] ADARB1 P78563 VAR_083949 p.Thr498Ala US - Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) [MIM:618862] ADARB1 P78563 VAR_083950 p.Arg603Gln LP/P - Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) [MIM:618862] ADARB1 P78563 VAR_083951 p.Ala722Val US - Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) [MIM:618862] ADARB2 Q9NS39 VAR_020438 p.Ala44Thr LB/B rs3793733 - ADARB2 Q9NS39 VAR_035806 p.Thr210Met US - A colorectal cancer sample ADARB2 Q9NS39 VAR_035807 p.Val512Ile US rs138734198 A colorectal cancer sample ADARB2 Q9NS39 VAR_048726 p.Ala626Thr LB/B rs2271275 - ADAT1 Q9BUB4 VAR_032340 p.His167Asn LB/B rs3743598 - ADAT1 Q9BUB4 VAR_032341 p.Thr203Asn LB/B rs3743599 - ADAT1 Q9BUB4 VAR_055649 p.Thr242Pro LB/B rs3743600 - ADAT1 Q9BUB4 VAR_061098 p.Ile226Val LB/B rs56029288 - ADAT3 Q96EY9 VAR_035804 p.Arg332Cys US - A breast cancer sample ADAT3 Q96EY9 VAR_069778 p.Val128Met LP/P - Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies (NEDBGF) [MIM:615286] ADCK2 Q7Z695 VAR_029992 p.Ser307Pro LB/B rs1140034 - ADCK2 Q7Z695 VAR_029993 p.Val418Met LB/B rs3748092 - ADCK2 Q7Z695 VAR_029994 p.Pro622Leu LB/B rs1046515 - ADCK2 Q7Z695 VAR_041418 p.Val418Leu LB/B rs3748092 - ADCK2 Q7Z695 VAR_041419 p.Pro626Leu LB/B rs55922126 - ADCK2 Q7Z695 VAR_060990 p.Ser66Gly LB/B rs2968558 - ADCK5 Q3MIX3 VAR_029996 p.Ser17Arg LB/B rs6599528 - ADCY1 Q08828 VAR_029186 p.Pro456Leu LB/B rs12721473 - ADCY1 Q08828 VAR_029187 p.Ala940Thr LB/B rs45444695 - ADCY1 Q08828 VAR_048246 p.Val984Met LB/B rs2293106 - ADCY10 Q96PN6 VAR_038476 p.Thr234Met LB/B rs16859886 - ADCY10 Q96PN6 VAR_038477 p.Ile697Val LB/B rs2071921 - ADCY2 Q08462 VAR_029012 p.Val147Leu LB/B rs13166360 - ADCY2 Q08462 VAR_048247 p.Val163Ile LB/B rs34043481 - ADCY3 O60266 VAR_048248 p.Ser107Pro LB/B rs11676272 - ADCY3 O60266 VAR_080791 p.Asn64Ile LB/B rs541941351 - ADCY5 O95622 VAR_068821 p.Ala726Thr LB/B rs796065306 - ADCY5 O95622 VAR_073778 p.Arg418Trp LB/B rs864309483 - ADCY5 O95622 VAR_086538 p.Pro10Leu LB/B rs143905423 - ADCY5 O95622 VAR_086539 p.Asp588Asn LP/P - Dyskinesia with orofacial involvement, autosomal recessive (DSKOR) [MIM:619647] ADCY5 O95622 VAR_086540 p.Ala706Val LB/B - - ADCY5 O95622 VAR_086541 p.Arg1013Cys LP/P rs1365372289 Dyskinesia with orofacial involvement, autosomal recessive (DSKOR) [MIM:619647] ADCY5 O95622 VAR_086542 p.Arg1238Trp LP/P - Dyskinesia with orofacial involvement, autosomal recessive (DSKOR) [MIM:619647] ADCY6 O43306 VAR_048249 p.Ala674Ser LB/B rs3730071 - ADCY6 O43306 VAR_073434 p.Arg1116Cys LP/P rs786204798 Lethal congenital contracture syndrome 8 (LCCS8) [MIM:616287] ADCY8 P40145 VAR_029188 p.Ala80Thr LB/B rs2228949 - ADCY8 P40145 VAR_036328 p.Phe881Leu US - A colorectal cancer sample ADCY9 O60503 VAR_023750 p.Ile772Met LB/B rs2230739 - ADCY9 O60503 VAR_070887 p.Asn1154Ser LB/B rs61731445 - ADCYAP1 P18509 VAR_014597 p.Asp54Gly LB/B rs2856966 - ADD1 P35611 VAR_014184 p.Gly460Trp LB/B rs4961 - ADD1 P35611 VAR_014185 p.Ser586Cys LB/B rs4963 - ADD1 P35611 VAR_014863 p.Tyr270Asn LB/B rs4971 - ADD1 P35611 VAR_014864 p.Glu376Asp LB/B rs4972 - ADD1 P35611 VAR_014865 p.Asn510Ile LB/B rs4962 - ADD1 P35611 VAR_022108 p.Arg6Cys LB/B rs2295497 - ADD2 P35612 VAR_014866 p.Asp28Asn LB/B rs4986 - ADD2 P35612 VAR_014867 p.Glu335Asp LB/B rs4982 - ADD2 P35612 VAR_014868 p.Ser663Arg LB/B rs4985 - ADD2 P35612 VAR_025318 p.Thr439Ala LB/B rs17855969 - ADD2 P35612 VAR_048195 p.Ser98Cys LB/B rs4987 - ADD3 Q9UEY8 VAR_076996 p.Gly367Asp LP/P rs564185858 Cerebral palsy, spastic quadriplegic 3 (CPSQ3) [MIM:617008] ADGB Q8N7X0 VAR_025948 p.Ile310Thr LB/B rs9497606 - ADGB Q8N7X0 VAR_063158 p.Thr1637Ala LB/B rs1052445 - ADGRA1 Q86SQ6 VAR_055931 p.Ala183Ser LB/B rs34915504 - ADGRA1 Q86SQ6 VAR_055932 p.Gln214Leu LB/B rs34679676 - ADGRA2 Q96PE1 VAR_072079 p.Pro29Leu US - - ADGRA2 Q96PE1 VAR_072561 p.Thr375Lys LB/B - - ADGRA3 Q8IWK6 VAR_033971 p.Val1043Met LB/B rs9002 - ADGRA3 Q8IWK6 VAR_033972 p.Val1166Gly LB/B rs3814416 - ADGRB2 O60241 VAR_079840 p.Arg1465Trp LB/B rs778361520 - ADGRB3 O60242 VAR_046525 p.Asn503Ser LB/B rs1932618 - ADGRD1 Q6QNK2 VAR_049461 p.Val508Met LB/B rs11833801 - ADGRD1 Q6QNK2 VAR_049462 p.Ser523Leu LB/B rs11061318 - ADGRD1 Q6QNK2 VAR_077698 p.Tyr18Cys LB/B rs149181066 - ADGRD1 Q6QNK2 VAR_077699 p.Tyr18His LB/B rs146611221 - ADGRD1 Q6QNK2 VAR_077700 p.Asp32Asn LB/B rs376178471 - ADGRD1 Q6QNK2 VAR_077701 p.Glu78Lys LB/B rs267603378 - ADGRD1 Q6QNK2 VAR_077702 p.Thr82Met LB/B rs143395855 - ADGRD1 Q6QNK2 VAR_077703 p.Tyr85Cys LB/B rs199848650 - ADGRD1 Q6QNK2 VAR_077704 p.Tyr89Asp LB/B rs201546462 - ADGRD1 Q6QNK2 VAR_077705 p.Phe110Leu LB/B rs148928637 - ADGRD1 Q6QNK2 VAR_077706 p.Ser138Phe LB/B rs199526762 - ADGRD1 Q6QNK2 VAR_077707 p.Gly140Ser LB/B rs374985420 - ADGRD1 Q6QNK2 VAR_077708 p.Gly141Asp LB/B rs142759046 - ADGRD1 Q6QNK2 VAR_077709 p.Val145Leu LB/B rs146945782 - ADGRD1 Q6QNK2 VAR_077710 p.Arg150Trp LB/B rs144030317 - ADGRD1 Q6QNK2 VAR_077711 p.Trp174Ser LB/B rs141606054 - ADGRD1 Q6QNK2 VAR_077712 p.Glu178Lys LB/B rs148148477 - ADGRD1 Q6QNK2 VAR_077713 p.Val184Ile LB/B rs61732860 - ADGRD1 Q6QNK2 VAR_077714 p.Gly195Arg LB/B rs267603379 - ADGRD1 Q6QNK2 VAR_077715 p.Arg199Cys LB/B rs146310036 - ADGRD1 Q6QNK2 VAR_077716 p.Arg199His LB/B rs375084180 - ADGRD1 Q6QNK2 VAR_077717 p.Glu203Asp LB/B rs201045213 - ADGRD1 Q6QNK2 VAR_077718 p.Val209Met LB/B rs139478688 - ADGRD1 Q6QNK2 VAR_077719 p.Asp226Asn LB/B rs377562590 - ADGRD1 Q6QNK2 VAR_077720 p.Arg233Trp LB/B rs370807516 - ADGRD1 Q6QNK2 VAR_077721 p.Ala241Thr LB/B rs368468703 - ADGRD1 Q6QNK2 VAR_077722 p.Met242Thr LB/B rs201057341 - ADGRD1 Q6QNK2 VAR_077723 p.Thr245Ile LB/B rs201053759 - ADGRD1 Q6QNK2 VAR_077724 p.Thr257Ala LB/B rs146563785 - ADGRD1 Q6QNK2 VAR_077725 p.Pro259Gln LB/B rs75096240 - ADGRD1 Q6QNK2 VAR_077726 p.Ser265Tyr LB/B rs137909892 - ADGRD1 Q6QNK2 VAR_077727 p.Ser268Asn LB/B rs149012578 - ADGRD1 Q6QNK2 VAR_077728 p.Val270Ala LB/B rs147773154 - ADGRD1 Q6QNK2 VAR_077729 p.Val270Met LB/B rs147105264 - ADGRD1 Q6QNK2 VAR_077730 p.Pro293Ala LB/B rs146929634 - ADGRD1 Q6QNK2 VAR_077731 p.Gly294Arg LB/B rs148017957 - ADGRD1 Q6QNK2 VAR_077732 p.Pro308Ser LB/B rs201661954 - ADGRD1 Q6QNK2 VAR_077733 p.Leu318Phe LB/B rs200641036 - ADGRD1 Q6QNK2 VAR_077734 p.Ser349Asn LB/B rs370854685 - ADGRD1 Q6QNK2 VAR_077735 p.Asn364Ser LB/B rs146050435 - ADGRD1 Q6QNK2 VAR_077736 p.Thr369Met LB/B rs142314859 - ADGRD1 Q6QNK2 VAR_077737 p.Phe383Ser LB/B rs200232576 - ADGRD1 Q6QNK2 VAR_077738 p.Val393Met LB/B rs374606811 - ADGRD1 Q6QNK2 VAR_077739 p.His397Gln LB/B rs201985264 - ADGRD1 Q6QNK2 VAR_077740 p.Arg399Cys LB/B rs150882180 - ADGRD1 Q6QNK2 VAR_077741 p.Gly404Ala LB/B rs371536090 - ADGRD1 Q6QNK2 VAR_077742 p.Gln405Pro LB/B rs145663007 - ADGRD1 Q6QNK2 VAR_077743 p.Ile410Val LB/B rs376489706 - ADGRD1 Q6QNK2 VAR_077744 p.Pro411Ser LB/B rs147757048 - ADGRD1 Q6QNK2 VAR_077745 p.Glu413Lys LB/B rs142628291 - ADGRD1 Q6QNK2 VAR_077746 p.Ala419Val LB/B rs370959644 - ADGRD1 Q6QNK2 VAR_077747 p.Gly425Ser LB/B rs374575404 - ADGRD1 Q6QNK2 VAR_077748 p.Ala441Thr LB/B rs375271891 - ADGRD1 Q6QNK2 VAR_077749 p.Ala448Asp LB/B rs200173874 - ADGRD1 Q6QNK2 VAR_077750 p.His450Arg LB/B rs200060202 - ADGRD1 Q6QNK2 VAR_077751 p.Asp453Asn LB/B rs149065791 - ADGRD1 Q6QNK2 VAR_077752 p.Cys454Tyr LB/B rs143062748 - ADGRD1 Q6QNK2 VAR_077753 p.Ala458Thr LB/B rs140426880 - ADGRD1 Q6QNK2 VAR_077754 p.Ser464Ala LB/B rs78638447 - ADGRD1 Q6QNK2 VAR_077755 p.Asn476Ser LB/B rs138163855 - ADGRD1 Q6QNK2 VAR_077756 p.Ser478Leu LB/B rs372643228 - ADGRD1 Q6QNK2 VAR_077757 p.Thr484Met LB/B rs149266247 - ADGRD1 Q6QNK2 VAR_077758 p.Val485Ile LB/B rs369012277 - ADGRD1 Q6QNK2 VAR_077759 p.Glu498Gly LB/B rs200576124 - ADGRD1 Q6QNK2 VAR_077760 p.Ala499Ser LB/B rs150620459 - ADGRD1 Q6QNK2 VAR_077761 p.Asn524Lys LB/B rs370443698 - ADGRD1 Q6QNK2 VAR_077762 p.Val538Ala LB/B rs201849687 - ADGRD1 Q6QNK2 VAR_077763 p.Val538Ile LB/B rs200971352 - ADGRD1 Q6QNK2 VAR_077764 p.Arg540Cys LB/B rs147294464 - ADGRD1 Q6QNK2 VAR_077765 p.Arg540His LB/B rs145630930 - ADGRD1 Q6QNK2 VAR_077766 p.Arg560Cys LB/B rs371989819 - ADGRD1 Q6QNK2 VAR_077767 p.Arg560His LB/B rs375179921 - ADGRD1 Q6QNK2 VAR_077768 p.Ser567Leu LB/B rs192515185 - ADGRD1 Q6QNK2 VAR_077769 p.Ile569Val LB/B rs139017446 - ADGRD1 Q6QNK2 VAR_077770 p.Ala589Thr LB/B rs201161291 - ADGRD1 Q6QNK2 VAR_077771 p.Val594Met LB/B rs189007948 - ADGRD1 Q6QNK2 VAR_077772 p.Arg601His LB/B rs201524753 - ADGRD1 Q6QNK2 VAR_077773 p.Leu608Met LB/B rs200052797 - ADGRD1 Q6QNK2 VAR_077774 p.Arg624Cys LB/B rs117457351 - ADGRD1 Q6QNK2 VAR_077775 p.Glu626Lys LB/B rs199778477 - ADGRD1 Q6QNK2 VAR_077776 p.Thr630Ile LB/B rs145482553 - ADGRD1 Q6QNK2 VAR_077777 p.Ser667Leu LB/B rs377401276 - ADGRD1 Q6QNK2 VAR_077778 p.Arg673His LB/B rs141128784 - ADGRD1 Q6QNK2 VAR_077779 p.Met695Thr LB/B rs143163307 - ADGRD1 Q6QNK2 VAR_077780 p.Gly699Arg LB/B rs149859410 - ADGRD1 Q6QNK2 VAR_077781 p.Ala720Val LB/B rs141439159 - ADGRD1 Q6QNK2 VAR_077782 p.Ala743Thr LB/B rs143902981 - ADGRD1 Q6QNK2 VAR_077783 p.His749Arg LB/B rs372207677 - ADGRD1 Q6QNK2 VAR_077784 p.Asp751Glu LB/B rs147763331 - ADGRD1 Q6QNK2 VAR_077785 p.Ala761Glu LB/B rs369201469 - ADGRD1 Q6QNK2 VAR_077786 p.Val764Met LB/B rs149434203 - ADGRD1 Q6QNK2 VAR_077787 p.Val777Met LB/B rs144814859 - ADGRD1 Q6QNK2 VAR_077788 p.Ala779Val LB/B rs61746588 - ADGRD1 Q6QNK2 VAR_077789 p.Thr793Met LB/B rs375488636 - ADGRD1 Q6QNK2 VAR_077790 p.Asn795Lys LB/B rs369853823 - ADGRD1 Q6QNK2 VAR_077791 p.Ala816Thr LB/B rs368828722 - ADGRD1 Q6QNK2 VAR_077792 p.Thr827Met LB/B rs371135988 - ADGRD1 Q6QNK2 VAR_077793 p.Ala831Thr LB/B rs146661482 - ADGRD1 Q6QNK2 VAR_077794 p.Ala836Thr LB/B rs144023497 - ADGRD1 Q6QNK2 VAR_077795 p.Ala836Val LB/B rs367789023 - ADGRD1 Q6QNK2 VAR_077796 p.Met851Thr LB/B rs78058857 - ADGRD1 Q6QNK2 VAR_077797 p.Arg868His LB/B rs61740366 - ADGRD1 Q6QNK2 VAR_077798 p.Val869Ile LB/B rs377434309 - ADGRD1 Q6QNK2 VAR_077799 p.Asp870Asn LB/B rs143670024 - ADGRD1 Q6QNK2 VAR_077800 p.Val874Met LB/B rs148442158 - ADGRD2 Q7Z7M1 VAR_083658 p.Pro170Ser LB/B - - ADGRD2 Q7Z7M1 VAR_083659 p.Ala630Thr LB/B - - ADGRE1 Q14246 VAR_027616 p.Ala57Thr LB/B rs330877 - ADGRE1 Q14246 VAR_027617 p.Ser140Arg LB/B rs330880 - ADGRE1 Q14246 VAR_027618 p.Asp174Asn LB/B rs897738 - ADGRE1 Q14246 VAR_027619 p.Asn254Ser LB/B rs443658 - ADGRE1 Q14246 VAR_027620 p.Ala298Val LB/B rs370094 - ADGRE1 Q14246 VAR_027621 p.Thr389Met LB/B rs466876 - ADGRE1 Q14246 VAR_027622 p.Ile424Val LB/B rs457857 - ADGRE1 Q14246 VAR_027623 p.Lys496Gln LB/B rs373533 - ADGRE1 Q14246 VAR_027624 p.Ile539Val LB/B rs461645 - ADGRE1 Q14246 VAR_027625 p.Val589Ile LB/B rs7256147 - ADGRE1 Q14246 VAR_027626 p.Phe691Cys LB/B rs2229769 - ADGRE1 Q14246 VAR_027627 p.Val724Leu LB/B rs10406580 - ADGRE1 Q14246 VAR_046976 p.Arg2Leu LB/B rs34176643 - ADGRE1 Q14246 VAR_046977 p.Met663Thr LB/B rs2228539 - ADGRE2 Q9UHX3 VAR_026719 p.Thr605Ile LB/B rs4410209 - ADGRE2 Q9UHX3 VAR_026720 p.Leu614Phe LB/B rs2524383 - ADGRE2 Q9UHX3 VAR_026721 p.Ser665Phe LB/B rs3752187 - ADGRE2 Q9UHX3 VAR_061229 p.Ala314Val LB/B rs35612307 - ADGRE2 Q9UHX3 VAR_061230 p.Glu720Asp LB/B rs57865820 - ADGRE2 Q9UHX3 VAR_078578 p.Cys492Tyr LP/P rs199718602 Vibratory urticaria (VBU) [MIM:125630] ADGRE3 Q9BY15 VAR_024472 p.Glu127Gln LB/B rs4606855 - ADGRE3 Q9BY15 VAR_055926 p.Ala236Val LB/B rs34226397 - ADGRE3 Q9BY15 VAR_060442 p.Arg385Gln LB/B rs45508602 - ADGRE5 P48960 VAR_017760 p.Arg367Gln LB/B rs2230748 - ADGRF1 Q5T601 VAR_055928 p.Ile787Val LB/B rs1226475 - ADGRF2P Q8IZF7 VAR_024473 p.Gln148Arg LB/B rs6907125 - ADGRF2P Q8IZF7 VAR_024474 p.Ile467Val LB/B rs9381594 - ADGRF3 Q8IZF5 VAR_024475 p.Ala404Thr LB/B rs2052937 - ADGRF4 Q8IZF3 VAR_024476 p.Lys541Asn LB/B rs9369738 - ADGRF4 Q8IZF3 VAR_036224 p.Ser674Leu US rs572583506 A breast cancer sample ADGRF4 Q8IZF3 VAR_055930 p.Arg507Cys LB/B rs12110938 - ADGRF5 Q8IZF2 VAR_024477 p.Met856Thr LB/B rs547499 - ADGRF5 Q8IZF2 VAR_025326 p.Thr604Met LB/B rs586024 - ADGRF5 Q8IZF2 VAR_055291 p.Val801Ile LB/B rs9395218 - ADGRG1 Q9Y653 VAR_017910 p.Ser281Arg LB/B rs1801257 - ADGRG1 Q9Y653 VAR_017911 p.Gln306His LB/B rs1801255 - ADGRG1 Q9Y653 VAR_026242 p.Arg38Trp LP/P rs121908462 Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal) (CDCBM14A) [MIM:606854] ADGRG1 Q9Y653 VAR_026243 p.Tyr88Cys LP/P rs121908466 Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal) (CDCBM14A) [MIM:606854] ADGRG1 Q9Y653 VAR_026244 p.Cys91Ser LP/P rs121908465 Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal) (CDCBM14A) [MIM:606854] ADGRG1 Q9Y653 VAR_026245 p.Cys346Ser LP/P rs121908463 Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal) (CDCBM14A) [MIM:606854] ADGRG1 Q9Y653 VAR_026246 p.Arg565Trp LP/P rs121908464 Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal) (CDCBM14A) [MIM:606854] ADGRG1 Q9Y653 VAR_049457 p.Met493Thr LB/B rs17379472 - ADGRG1 Q9Y653 VAR_049458 p.Pro527Leu LB/B rs16958679 - ADGRG1 Q9Y653 VAR_069581 p.Arg38Gln LP/P rs764367185 Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal) (CDCBM14A) [MIM:606854] ADGRG1 Q9Y653 VAR_069582 p.Trp349Ser LP/P - Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal) (CDCBM14A) [MIM:606854] ADGRG1 Q9Y653 VAR_069583 p.Glu496Lys LP/P rs556518689 Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal) (CDCBM14A) [MIM:606854] ADGRG1 Q9Y653 VAR_069584 p.Leu640Arg LP/P - Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal) (CDCBM14A) [MIM:606854] ADGRG2 Q8IZP9 VAR_055289 p.His290Gln LB/B rs35974297 - ADGRG2 Q8IZP9 VAR_055290 p.Asn771Ser LB/B rs3924227 - ADGRG2 Q8IZP9 VAR_076259 p.Pro224Ser LB/B rs140334931 - ADGRG2 Q8IZP9 VAR_080773 p.Asn64Ser US rs746638813 - ADGRG3 Q86Y34 VAR_055927 p.Ala430Thr LB/B rs2290178 - ADGRG4 Q8IZF6 VAR_055929 p.Ile276Met LB/B rs4829829 - ADGRG4 Q8IZF6 VAR_059329 p.Pro368His LB/B rs5930931 - ADGRG4 Q8IZF6 VAR_059330 p.Thr1213Asn LB/B rs4829830 - ADGRG4 Q8IZF6 VAR_059331 p.Ser1540Pro LB/B rs912002 - ADGRG4 Q8IZF6 VAR_059332 p.Phe1791Leu LB/B rs5930932 - ADGRG6 Q86SQ4 VAR_024478 p.Lys230Gln LB/B rs11155242 - ADGRG6 Q86SQ4 VAR_054128 p.Ser123Gly LB/B rs17280293 - ADGRG6 Q86SQ4 VAR_054129 p.Gln1127Arg LB/B rs1262686 - ADGRG6 Q86SQ4 VAR_075146 p.Val741Glu LP/P - Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503] ADGRG6 Q86SQ4 VAR_075147 p.Val769Glu LP/P rs793888525 Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503] ADGRG6 Q86SQ4 VAR_076965 p.Arg1057Gln LB/B rs536714306 - ADGRG7 Q96K78 VAR_049459 p.Thr645Ser LB/B rs16842529 - ADGRG7 Q96K78 VAR_049460 p.Arg756His LB/B rs9872512 - ADGRG7 Q96K78 VAR_055138 p.Lys151Glu LB/B rs1144122 - ADGRL1 O94910 VAR_049463 p.Glu595Gln LB/B rs34759320 - ADGRL1 O94910 VAR_087775 p.Tyr346Cys US - Developmental delay, behavioral abnormalities, and neuropsychiatric disorders (DEDBANP) [MIM:620065] ADGRL1 O94910 VAR_087776 p.Trp1005Arg LP/P - Developmental delay, behavioral abnormalities, and neuropsychiatric disorders (DEDBANP) [MIM:620065] ADGRL1 O94910 VAR_087778 p.Met1152Thr LP/P - Developmental delay, behavioral abnormalities, and neuropsychiatric disorders (DEDBANP) [MIM:620065] ADGRL1 O94910 VAR_087779 p.Ser1164Phe LP/P - Developmental delay, behavioral abnormalities, and neuropsychiatric disorders (DEDBANP) [MIM:620065] ADGRL2 O95490 VAR_077836 p.Arg467Thr US - - ADGRL3 Q9HAR2 VAR_055934 p.Arg465Gln LB/B rs35106420 - ADGRL3 Q9HAR2 VAR_064477 p.Ala247Ser LB/B - - ADGRL3 Q9HAR2 VAR_064478 p.Thr770Met LB/B - - ADGRL3 Q9HAR2 VAR_064479 p.Leu915Val LB/B - - ADGRL4 Q9HBW9 VAR_047072 p.Val300Leu LB/B rs12754818 - ADGRL4 Q9HBW9 VAR_047073 p.His599Gln LB/B rs1968956 - ADGRL4 Q9HBW9 VAR_047074 p.Ala620Gly LB/B rs2275902 - ADGRV1 Q8WXG9 VAR_025995 p.Leu127Arg LB/B rs41311333 - ADGRV1 Q8WXG9 VAR_025996 p.Arg249Lys LB/B rs41303344 - ADGRV1 Q8WXG9 VAR_025997 p.Leu1093Phe LB/B rs2366777 - ADGRV1 Q8WXG9 VAR_025998 p.Thr1927Met LB/B rs17544552 - ADGRV1 Q8WXG9 VAR_025999 p.Val1951Ile LB/B rs4916684 - ADGRV1 Q8WXG9 VAR_026000 p.Asn1985Asp LB/B rs41303352 - ADGRV1 Q8WXG9 VAR_026001 p.Pro1987Leu LB/B rs4916685 - ADGRV1 Q8WXG9 VAR_026002 p.Leu2004Phe LB/B rs16868972 - ADGRV1 Q8WXG9 VAR_026003 p.Tyr2232Cys LB/B rs10037067 - ADGRV1 Q8WXG9 VAR_026004 p.Asn2345Ser LB/B rs2366926 - ADGRV1 Q8WXG9 VAR_026005 p.Gly2379Ala LB/B - - ADGRV1 Q8WXG9 VAR_026006 p.Asn2584Ser LB/B rs1878878 - ADGRV1 Q8WXG9 VAR_026007 p.Ser2764Leu LB/B rs16869016 - ADGRV1 Q8WXG9 VAR_026008 p.Ala2803Thr LB/B rs111033530 - ADGRV1 Q8WXG9 VAR_026009 p.Ala3217Val LB/B rs114137750 - ADGRV1 Q8WXG9 VAR_026010 p.Gly3248Asp LB/B rs16869032 - ADGRV1 Q8WXG9 VAR_026011 p.Glu3471Lys LB/B rs2366928 - ADGRV1 Q8WXG9 VAR_026012 p.Glu5344Gly LB/B rs2438374 - ADGRV1 Q8WXG9 VAR_026013 p.Thr5437Ala LB/B rs770471921 - ADGRV1 Q8WXG9 VAR_046346 p.Val551Ala LB/B rs6889939 - ADGRV1 Q8WXG9 VAR_046347 p.Ile1187Val LB/B rs16868935 - ADGRV1 Q8WXG9 VAR_046348 p.Thr1916Ile LB/B rs35791889 - ADGRV1 Q8WXG9 VAR_046349 p.Arg2097Cys LB/B rs16868974 - ADGRV1 Q8WXG9 VAR_046350 p.Val3094Ile LB/B rs13157270 - ADGRV1 Q8WXG9 VAR_046351 p.Phe3347Leu LB/B rs10067636 - ADGRV1 Q8WXG9 VAR_046352 p.Glu3867Ala LB/B rs16869088 - ADGRV1 Q8WXG9 VAR_055933 p.Glu3868Ala LB/B rs16869088 - ADGRV1 Q8WXG9 VAR_068032 p.Arg4789Trp LP/P rs1131691924 Usher syndrome 2C (USH2C) [MIM:605472] ADGRV1 Q8WXG9 VAR_068033 p.His5978Arg LP/P rs756460900 Usher syndrome 2C (USH2C) [MIM:605472] ADH1B P00325 VAR_000426 p.His48Arg LB/B rs1229984 - ADH1B P00325 VAR_000427 p.Arg370Cys LB/B rs2066702 - ADH1B P00325 VAR_019322 p.Asn57Lys LB/B rs1041969 - ADH1B P00325 VAR_019323 p.Thr60Ser LB/B rs6413413 - ADH1C P00326 VAR_000428 p.Arg272Gln LB/B rs1693482 - ADH1C P00326 VAR_000429 p.Ile350Val LB/B rs698 - ADH1C P00326 VAR_023992 p.Arg48His LB/B rs35385902 - ADH1C P00326 VAR_023993 p.Pro166Ser LB/B rs34195308 - ADH1C P00326 VAR_023994 p.Pro352Thr LB/B rs35719513 - ADH4 P08319 VAR_023461 p.Ile309Val LB/B rs1126671 - ADH4 P08319 VAR_023462 p.Arg318His LB/B rs29001219 - ADH4 P08319 VAR_023463 p.Val374Ile LB/B rs1126673 - ADH5 P11766 VAR_025823 p.Leu163Ser LB/B rs28730623 - ADH5 P11766 VAR_025824 p.Val309Ile LB/B rs28730628 - ADH5 P11766 VAR_048199 p.Asp353Glu LB/B rs16996593 - ADH5 P11766 VAR_086835 p.Ala278Pro LP/P rs754853545 AMED syndrome, digenic (AMEDS) [MIM:619151] ADH6 P28332 VAR_022655 p.Cys102Gly LB/B rs28720152 - ADH6 P28332 VAR_022656 p.Ile114Val LB/B rs28720153 - ADH6 P28332 VAR_048198 p.Thr151Pro LB/B rs34582580 - ADH7 P40394 VAR_024364 p.Gly92Ala LB/B rs1573496 - ADHFE1 Q8IWW8 VAR_039470 p.Asp242Val US - A breast cancer sample ADHFE1 Q8IWW8 VAR_054015 p.Cys449Arg LB/B rs1060242 - ADIPOQ Q15848 VAR_013273 p.Gly84Arg LB/B rs199646033 - ADIPOQ Q15848 VAR_013274 p.Arg112Cys LP/P rs121917815 Adiponectin deficiency (ADPOD) [MIM:612556] ADIPOQ Q15848 VAR_013275 p.Val117Met LB/B rs747223144 - ADIPOQ Q15848 VAR_013276 p.Ile164Thr LP/P rs185847354 Adiponectin deficiency (ADPOD) [MIM:612556] ADIPOQ Q15848 VAR_013277 p.Arg221Ser LB/B rs138773406 - ADIPOQ Q15848 VAR_013278 p.His241Pro LB/B rs141205818 - ADIPOQ Q15848 VAR_027395 p.Gly90Ser LB/B rs62625753 - ADIPOQ Q15848 VAR_027396 p.Tyr111His LB/B rs17366743 - ADIPOR2 Q86V24 VAR_048203 p.Gln39Arg LB/B rs12298275 - ADK P55263 VAR_066640 p.Gly30Glu LP/P rs397514454 Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300] ADK P55263 VAR_066641 p.Asp235Ala LP/P rs397514453 Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300] ADK P55263 VAR_066642 p.Ala318Glu LP/P rs397514452 Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300] ADM P35318 VAR_014861 p.Ser50Arg LB/B rs5005 - ADM P35318 VAR_048205 p.Pro85Arg LB/B rs2228573 - ADNP Q9H2P0 VAR_078696 p.Gly1094Val US rs780706686 - ADO Q96SZ5 VAR_025333 p.Gly25Trp LB/B rs2236295 - ADO Q96SZ5 VAR_025334 p.Pro39Ala LB/B rs10995311 - ADO Q96SZ5 VAR_033691 p.Pro266Ser LB/B rs569705 - ADORA1 P30542 VAR_035754 p.Glu170Lys US rs899207013 A colorectal cancer sample ADORA1 P30542 VAR_044138 p.Ala43Ser LB/B rs11547175 - ADORA1 P30542 VAR_044139 p.Ser50Pro LB/B rs11547174 - ADORA1 P30542 VAR_044140 p.Arg105His LB/B rs11547176 - ADORA1 P30542 VAR_044141 p.Pro261Gln LB/B rs17852405 - ADORA1 P30542 VAR_078549 p.Gly279Ser US rs748346254 - ADORA2A P29274 VAR_003451 p.Gly392Arg LB/B rs1277013918 - ADORA2A P29274 VAR_011835 p.Ala50Val LB/B rs4530 - ADORA2A P29274 VAR_011836 p.Arg300His LB/B rs4990 - ADORA3 P0DMS8 VAR_035755 p.Ala105Thr US rs746154553 A colorectal cancer sample ADORA3 P0DMS8 VAR_049366 p.Ile248Leu LB/B rs35511654 - ADORA3 P0DMS8 VAR_049367 p.Met266Lys LB/B rs2800889 - ADPGK Q9BRR6 VAR_060085 p.Lys184Arg LB/B rs8024644 - ADPRHL1 Q8NDY3 VAR_048890 p.Ala7Val LB/B rs9577273 - ADPRM Q3LIE5 VAR_032125 p.Leu92Arg LB/B rs34940296 - ADPRM Q3LIE5 VAR_032126 p.Glu337Gly LB/B rs406446 - ADPRS Q9NX46 VAR_030579 p.Glu209Lys LB/B rs2236387 - ADPRS Q9NX46 VAR_081264 p.Asp34Asn US rs1557732234 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170] ADPRS Q9NX46 VAR_081265 p.Thr79Pro LP/P rs1557733311 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170] ADPRS Q9NX46 VAR_081267 p.Ser177Leu US rs200626873 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170] ADPRS Q9NX46 VAR_081270 p.Val335Gly US rs201735454 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170] ADPRS Q9NX46 VAR_085654 p.Cys26Phe US - Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170] ADRA1A P35348 VAR_019509 p.Cys347Arg LB/B rs1048101 - ADRA1A P35348 VAR_035756 p.Gly40Trp US - A breast cancer sample ADRA1A P35348 VAR_049370 p.Ile200Ser LB/B rs2229125 - ADRA1A P35348 VAR_049371 p.Lys414Arg LB/B rs3730247 - ADRA1A P35348 VAR_049372 p.Glu465Asp LB/B rs2229126 - ADRA1B P35368 VAR_019510 p.Val51Gly LB/B rs8192448 - ADRA2A P08913 VAR_014957 p.Asn266Lys LB/B rs1800035 - ADRA2A P08913 VAR_055908 p.Cys416Ser LB/B rs35658213 - ADRA2B P18089 VAR_025099 p.Gly211Ala LB/B rs9333568 - ADRA2B P18089 VAR_025100 p.Val379Gly LB/B rs527655811 - ADRA2B P18089 VAR_033462 p.Val376Ile LB/B rs1431850417 - ADRA2B P18089 VAR_033463 p.Val379Ile LB/B rs29000569 - ADRB1 P08588 VAR_009879 p.Ser49Gly LB/B rs1801252 - ADRB1 P08588 VAR_009880 p.Gly389Arg LB/B rs1801253 - ADRB1 P08588 VAR_055909 p.Ala26Val LB/B rs34844626 - ADRB1 P08588 VAR_055910 p.Ala29Thr LB/B rs35720093 - ADRB1 P08588 VAR_055911 p.Arg31Gln LB/B rs35230616 - ADRB1 P08588 VAR_055912 p.Arg399His LB/B rs36052953 - ADRB1 P08588 VAR_055913 p.His405Tyr LB/B rs35705839 - ADRB1 P08588 VAR_082587 p.Ala187Val LB/B rs776439595 - ADRB2 P07550 VAR_003452 p.Gly16Arg LB/B rs1042713 - ADRB2 P07550 VAR_003453 p.Glu27Gln LB/B rs1042714 - ADRB2 P07550 VAR_003454 p.Val34Met LB/B rs990810566 - ADRB2 P07550 VAR_003455 p.Thr164Ile LB/B rs1800888 - ADRB2 P07550 VAR_009124 p.Ile159Leu LB/B - - ADRB2 P07550 VAR_009125 p.Ile159Phe LB/B - - ADRB2 P07550 VAR_009394 p.Lys375Arg LB/B rs771585355 - ADRB2 P07550 VAR_025101 p.Ser220Cys LB/B rs3729943 - ADRB2 P07550 VAR_049373 p.Asn15Ser LB/B rs33973603 - ADRB3 P13945 VAR_003456 p.Trp64Arg LB/B rs4994 - ADRB3 P13945 VAR_014166 p.Thr265Met LB/B rs4995 - ADRB3 P13945 VAR_025102 p.Arg353Cys LB/B rs36031925 - ADRB3 P13945 VAR_029205 p.Glu249Lys LB/B rs28364012 - ADSL P30566 VAR_000680 p.Ser438Pro LP/P rs119450940 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_007972 p.Ile72Val LP/P - Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_007973 p.Arg141Trp LP/P rs756210458 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_007974 p.Arg190Gln LP/P rs28941471 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_007975 p.Lys246Glu LP/P rs119450944 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_007976 p.Arg303Cys LP/P rs373458753 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_007977 p.Ser395Arg LP/P - Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_007978 p.Arg426His LP/P rs119450941 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_016930 p.Ala2Val LP/P rs143083947 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_016931 p.Met26Leu LP/P rs1311171245 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_016932 p.Thr450Ser LP/P rs372895468 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017078 p.Ala3Val LP/P - Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017079 p.Pro100Ala LP/P rs119450942 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017080 p.Tyr114His LP/P rs374259530 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017081 p.Arg194Cys LP/P rs1465152683 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017082 p.Asp268Asn LP/P rs746501563 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017083 p.Leu311Val LP/P - Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017084 p.Pro318Leu LP/P rs202064195 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017085 p.Val364Met LP/P rs370851726 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017086 p.Arg374Trp LP/P rs376533026 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017087 p.Arg396Cys LP/P rs755492501 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017088 p.Arg396His LP/P rs763542069 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017089 p.Asp422Tyr LP/P rs119450943 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017090 p.Leu423Val LP/P - Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017091 p.Asp430Asn LP/P rs554254383 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017092 p.Ser447Pro LP/P rs777821034 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017093 p.Arg452Pro LP/P - Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_037883 p.Ser31Asn LB/B rs5757921 - ADSL P30566 VAR_037884 p.Lys147Met LB/B rs11089991 - ADSS1 Q8N142 VAR_076998 p.Asp261Asn LP/P rs140614802 Myopathy, distal, 5 (MPD5) [MIM:617030] ADSS2 P30520 VAR_051881 p.Leu179Phe LB/B rs12134870 - ADTRP Q96IZ2 VAR_024365 p.Val202Ile LB/B rs2076185 - AEBP1 Q8IUX7 VAR_043118 p.Pro273Thr LB/B rs2537188 - AEBP1 Q8IUX7 VAR_043119 p.Asp648Glu LB/B rs11770649 - AEBP1 Q8IUX7 VAR_043120 p.Pro1001Leu LB/B rs4724285 - AEBP1 Q8IUX7 VAR_043121 p.Lys1133Glu LB/B rs13928 - AEBP1 Q8IUX7 VAR_043122 p.Val1148Ile LB/B rs13898 - AEN Q8WTP8 VAR_039651 p.Pro15Leu LB/B rs3743477 - AEN Q8WTP8 VAR_039652 p.Ser88Cys LB/B rs8026929 - AEN Q8WTP8 VAR_039653 p.Asn140Asp LB/B rs8027765 - AFAP1 Q8N556 VAR_038578 p.Ser403Cys LB/B rs28406288 - AFAP1 Q8N556 VAR_038579 p.Val518Met LB/B rs41264705 - AFAP1L2 Q8N4X5 VAR_050505 p.Gly138Arg LB/B rs11196689 - AFAP1L2 Q8N4X5 VAR_050506 p.Ser366Arg LB/B rs7075067 - AFAP1L2 Q8N4X5 VAR_050507 p.Thr522Ser LB/B rs2781806 - AFAP1L2 Q8N4X5 VAR_054214 p.Glu726Lys LB/B rs11599051 - AFF1 P51825 VAR_020370 p.Pro209Ala LB/B rs3733378 - AFF1 P51825 VAR_036130 p.Gln1204Lys US - A breast cancer sample AFF2 P51816 VAR_028217 p.Leu1185Met LB/B rs12858959 - AFF3 P51826 VAR_030805 p.Asn358Ser LB/B rs4851223 - AFF3 P51826 VAR_030806 p.Asn494Ser LB/B rs1047265 - AFF3 P51826 VAR_080758 p.Gly1215Val US - - AFF3 P51826 VAR_085675 p.Pro231Ala LP/P - KINSSHIP syndrome (KINS) [MIM:619297] AFF3 P51826 VAR_085676 p.Pro231Leu LP/P - KINSSHIP syndrome (KINS) [MIM:619297] AFF3 P51826 VAR_085677 p.Ala233Ser LP/P - KINSSHIP syndrome (KINS) [MIM:619297] AFF3 P51826 VAR_085678 p.Ala233Thr LP/P - KINSSHIP syndrome (KINS) [MIM:619297] AFF3 P51826 VAR_085679 p.Ala233Val LP/P - KINSSHIP syndrome (KINS) [MIM:619297] AFF3 P51826 VAR_085680 p.Val235Gly LP/P - KINSSHIP syndrome (KINS) [MIM:619297] AFF4 Q9UHB7 VAR_053003 p.Thr136Pro LB/B rs34527550 - AFF4 Q9UHB7 VAR_064693 p.Ser757Thr US - - AFF4 Q9UHB7 VAR_073790 p.Thr254Ala LP/P rs786205233 CHOPS syndrome (CHOPS) [MIM:616368] AFF4 Q9UHB7 VAR_073791 p.Thr254Ser LP/P rs786205679 CHOPS syndrome (CHOPS) [MIM:616368] AFF4 Q9UHB7 VAR_073792 p.Arg258Trp LP/P rs786205680 CHOPS syndrome (CHOPS) [MIM:616368] AFG2A Q8NB90 VAR_042703 p.Cys27Ser LB/B rs35430470 - AFG2A Q8NB90 VAR_042704 p.Ser673Tyr LB/B rs35133326 - AFG2A Q8NB90 VAR_075775 p.Arg84Gln LP/P rs745858366 Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) [MIM:616577] AFG2A Q8NB90 VAR_075776 p.Ser90Ile LP/P rs796051893 Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) [MIM:616577] AFG2A Q8NB90 VAR_075777 p.Ala100Thr LP/P rs796051895 Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) [MIM:616577] AFG2A Q8NB90 VAR_075779 p.Ser448Leu LP/P rs766034355 Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) [MIM:616577] AFG2A Q8NB90 VAR_075780 p.Val488Leu LP/P - Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) [MIM:616577] AFG2A Q8NB90 VAR_075781 p.Arg529Gln LP/P rs567175477 Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) [MIM:616577] AFG2A Q8NB90 VAR_075782 p.Trp626Cys LP/P rs1553969639 Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) [MIM:616577] AFG2A Q8NB90 VAR_075783 p.Asp628Gly LP/P rs768528444 Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) [MIM:616577] AFG2A Q8NB90 VAR_075784 p.Arg784Gln LP/P rs796051894 Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) [MIM:616577] AFG2A Q8NB90 VAR_075785 p.Ala844Val LP/P rs796051892 Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) [MIM:616577] AFG2B Q9BVQ7 VAR_048111 p.Arg119Pro LB/B rs1153850 - AFG2B Q9BVQ7 VAR_048112 p.Asn592Asp LB/B rs16943025 - AFG2B Q9BVQ7 VAR_059085 p.Arg252Gln LB/B rs7182723 - AFG2B Q9BVQ7 VAR_086544 p.Thr26Ala LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG2B Q9BVQ7 VAR_086545 p.Cys29Gly LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG2B Q9BVQ7 VAR_086546 p.Ala41Pro LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG2B Q9BVQ7 VAR_086547 p.Arg64Trp LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG2B Q9BVQ7 VAR_086548 p.Asp66Tyr LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG2B Q9BVQ7 VAR_086549 p.Phe71Leu LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG2B Q9BVQ7 VAR_086550 p.Pro172His LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG2B Q9BVQ7 VAR_086551 p.Gly176Val LP/P - Deafness, autosomal recessive, 119 (DFNB119) [MIM:619615] AFG2B Q9BVQ7 VAR_086552 p.Val245Glu LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG2B Q9BVQ7 VAR_086553 p.Phe360Ser LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG2B Q9BVQ7 VAR_086554 p.Val364Glu LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG2B Q9BVQ7 VAR_086555 p.Thr400Ile LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG2B Q9BVQ7 VAR_086556 p.Leu438Pro LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG2B Q9BVQ7 VAR_086557 p.Ile466Met LP/P - Deafness, autosomal recessive, 119 (DFNB119) [MIM:619615] AFG2B Q9BVQ7 VAR_086558 p.Ala519Asp LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG2B Q9BVQ7 VAR_086559 p.Leu561Ser LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG2B Q9BVQ7 VAR_086562 p.Arg658Lys LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG2B Q9BVQ7 VAR_086563 p.Met669Arg LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG2B Q9BVQ7 VAR_086564 p.Gly689Val LP/P - Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] AFG3L2 Q9Y4W6 VAR_063544 p.Asn432Thr LP/P rs151344512 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_063545 p.Glu691Lys LP/P rs151344520 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_063546 p.Ala694Glu LP/P rs151344521 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_063547 p.Arg702Gln LP/P rs151344523 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064402 p.Thr654Ile LP/P rs151344513 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064403 p.Met666Arg LP/P rs151344515 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064404 p.Met666Thr LP/P rs151344515 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064405 p.Met666Val LP/P rs151344514 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064406 p.Gly671Glu LP/P rs151344518 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064407 p.Gly671Arg LP/P rs151344517 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064408 p.Glu700Lys LP/P rs151344522 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_067330 p.Tyr616Cys LP/P rs387906889 Spastic ataxia 5, autosomal recessive (SPAX5) [MIM:614487] AFG3L2 Q9Y4W6 VAR_075198 p.Tyr689His LP/P rs1598820860 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_075199 p.Tyr689Asn LP/P - Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_080736 p.Leu621Val US - Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_084603 p.Glu74Ala US - Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084604 p.Lys306Glu US - Spastic ataxia 5, autosomal recessive (SPAX5) [MIM:614487] AFG3L2 Q9Y4W6 VAR_084605 p.Gly337Glu LP/P rs1908566777 Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084606 p.Gly337Arg LP/P - Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084607 p.Leu346Phe US rs755893615 Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084608 p.Glu376Lys US - Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084609 p.Phe377Ser US rs1908507433 Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084610 p.Asp407Gly US rs1908371616 Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084611 p.Arg416Ser US - Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084612 p.Thr430Ile US rs1908369114 Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084613 p.Ala462Val LP/P rs912546325 Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084613 p.Ala462Val LP/P rs912546325 Spastic ataxia 5, autosomal recessive (SPAX5) [MIM:614487] AFG3L2 Q9Y4W6 VAR_084614 p.Arg465Lys LP/P rs1908309088 Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084615 p.Arg468Cys LP/P rs1020764190 Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084616 p.Pro514Leu LP/P rs1908300748 Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084617 p.Tyr605Cys US rs773240455 Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084618 p.Gln620Lys LP/P rs1907907851 Spastic ataxia 5, autosomal recessive (SPAX5) [MIM:614487] AFG3L2 Q9Y4W6 VAR_084619 p.Thr644Ser US rs1226952405 Optic atrophy 12 (OPA12) [MIM:618977] AFM P43652 VAR_048218 p.Thr404Ser LB/B rs2276444 - AFM P43652 VAR_061003 p.Arg395His LB/B rs41265665 - AFP P02771 VAR_012049 p.Ala570Gly LB/B rs7790 - AFP P02771 VAR_033928 p.Lys187Gln LB/B rs35765619 - AFTPH Q6ULP2 VAR_056728 p.Asp233Gly LB/B rs35986567 - AFTPH Q6ULP2 VAR_056729 p.Glu301Lys LB/B rs3770740 - AFTPH Q6ULP2 VAR_056730 p.Asn550Ser LB/B rs3770739 - AGA P20933 VAR_005069 p.Gly60Asp LP/P rs121964907 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005070 p.Ser72Pro LP/P rs121964909 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005071 p.Ala101Val LP/P rs121964908 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005072 p.Arg161Gln LP/P rs192195150 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005073 p.Cys163Ser LP/P rs121964904 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005074 p.Gly302Arg LP/P rs121964905 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005075 p.Cys306Arg LP/P rs121964906 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015427 p.Val12Leu US rs74626221 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015428 p.Gly100Glu LP/P rs386833421 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015429 p.Phe135Ser LP/P rs386833427 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015430 p.Gly252Glu LP/P rs386833433 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015431 p.Gly252Arg LP/P rs386833432 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015432 p.Thr257Ile LP/P rs386833434 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_033533 p.Thr149Ser LB/B rs2228119 - AGA P20933 VAR_061026 p.Thr322Ile LB/B rs56849061 - AGAP1 Q9UPQ3 VAR_019550 p.Glu829Lys LB/B rs15718 - AGAP1 Q9UPQ3 VAR_026446 p.Ser82Gly US - - AGAP1 Q9UPQ3 VAR_026447 p.Asp148Gly LB/B rs17855721 - AGAP1 Q9UPQ3 VAR_026448 p.Val671Ile LB/B rs2034648 - AGAP1 Q9UPQ3 VAR_026449 p.Arg798Gly LB/B rs762355360 - AGAP1 Q9UPQ3 VAR_026450 p.Pro854Thr LB/B rs368301945 - AGAP11 Q8TF27 VAR_042518 p.Ile82Val LB/B rs2641563 - AGAP2 Q99490 VAR_022046 p.Gly507Ser LB/B rs2301553 - AGAP2 Q99490 VAR_026438 p.Val455Ala US - A glioblastoma cell line AGAP2 Q99490 VAR_026439 p.Arg518Gly US - A sarcoma cell line AGAP2 Q99490 VAR_026440 p.Thr568Ile US - - AGAP2 Q99490 VAR_026441 p.Ala651Val US - A glioblastoma cell line AGAP2 Q99490 VAR_026442 p.Glu767Val US - A glioblastoma cell line AGAP2 Q99490 VAR_026443 p.Asn939Asp US - A glioblastoma cell line AGAP2 Q99490 VAR_026444 p.Val947Met US - A sarcoma cell line AGAP2 Q99490 VAR_026445 p.Ser1022Pro US - A glioblastoma cell line AGAP2 Q99490 VAR_036183 p.Thr339Ala US - A breast cancer sample AGAP2 Q99490 VAR_036184 p.Asp816Tyr US - A breast cancer sample AGAP2 Q99490 VAR_055532 p.Gly1124Val LB/B rs238521 - AGAP4 Q96P64 VAR_031804 p.Lys661Glu LB/B rs1169771928 - AGBL1 Q96MI9 VAR_048604 p.Pro463Leu LB/B rs8029810 - AGBL1 Q96MI9 VAR_048605 p.Ser481Pro LB/B rs11857527 - AGBL1 Q96MI9 VAR_059195 p.Gln1056Arg LB/B rs8028043 - AGBL1 Q96MI9 VAR_070225 p.Cys1036Ser LP/P rs181958589 Corneal dystrophy, Fuchs endothelial, 8 (FECD8) [MIM:615523] AGBL2 Q5U5Z8 VAR_031572 p.Arg349His LB/B rs7941404 - AGBL2 Q5U5Z8 VAR_046637 p.Ile90Arg LB/B rs12795414 - AGBL2 Q5U5Z8 VAR_046638 p.Thr333Pro LB/B rs35898124 - AGBL2 Q5U5Z8 VAR_046639 p.Asp368Gly LB/B rs1870545 - AGBL2 Q5U5Z8 VAR_046640 p.Met671Ile LB/B rs12286721 - AGBL3 Q8NEM8 VAR_031573 p.Phe45Tyr LB/B rs2348049 - AGBL3 Q8NEM8 VAR_031574 p.Glu122Gln LB/B rs4236655 - AGBL3 Q8NEM8 VAR_031575 p.Thr360Ile LB/B rs17804854 - AGBL4 Q5VU57 VAR_061078 p.Val443Met LB/B rs60977321 - AGBL5 Q8NDL9 VAR_035231 p.Gly649Asp LB/B rs35804461 - AGBL5 Q8NDL9 VAR_077018 p.Arg276Trp LP/P rs879253769 Retinitis pigmentosa 75 (RP75) [MIM:617023] AGBL5 Q8NDL9 VAR_077019 p.Asp295Asn LP/P rs879253768 Retinitis pigmentosa 75 (RP75) [MIM:617023] AGBL5 Q8NDL9 VAR_079522 p.Pro108Arg US - Retinitis pigmentosa 75 (RP75) [MIM:617023] AGBL5 Q8NDL9 VAR_079523 p.Val251Gly US - Retinitis pigmentosa 75 (RP75) [MIM:617023] AGBL5 Q8NDL9 VAR_079524 p.Arg281Cys US rs780394281 Retinitis pigmentosa 75 (RP75) [MIM:617023] AGER Q15109 VAR_011338 p.Gln100Arg LB/B - - AGER Q15109 VAR_024500 p.Gly82Ser LB/B rs2070600 - AGFG2 O95081 VAR_050566 p.Thr365Asn LB/B rs34731997 - AGGF1 Q8N302 VAR_017901 p.Glu133Lys LB/B rs34203073 - AGGF1 Q8N302 VAR_017902 p.Pro698Thr LB/B rs34400049 - AGGF1 Q8N302 VAR_037446 p.Thr180Ala LB/B rs9715897 - AGGF1 Q8N302 VAR_037447 p.Leu471Pro LB/B rs17856835 - AGK Q53H12 VAR_027848 p.Val3Met LB/B rs10262855 - AGL P35573 VAR_009230 p.Gly1115Arg LB/B rs2230307 - AGL P35573 VAR_009231 p.Gly1448Arg LP/P rs118203964 Glycogen storage disease 3 (GSD3) [MIM:232400] AGL P35573 VAR_009621 p.Arg387Gln LB/B rs17121464 - AGL P35573 VAR_009622 p.Glu1343Lys LB/B rs112795811 - AGL P35573 VAR_020389 p.Pro1067Ser LB/B rs3753494 - AGL P35573 VAR_028051 p.Gln229Arg LB/B rs17121403 - AGL P35573 VAR_028052 p.Ala701Ser LB/B rs3736297 - AGL P35573 VAR_028053 p.Ile1144Asn LB/B rs2230308 - AGL P35573 VAR_028054 p.Arg1253His LB/B rs12043139 - AGL P35573 VAR_028055 p.Arg1487Gly LB/B rs12118058 - AGL P35573 VAR_032084 p.Thr38Ala LB/B rs35278779 - AGL P35573 VAR_032085 p.Ser962Cys LB/B rs34714252 - AGL P35573 VAR_051010 p.Ala1207Thr LB/B rs11807956 - AGMAT Q9BSE5 VAR_023485 p.Gly105Arg LB/B rs6429757 - AGMAT Q9BSE5 VAR_048332 p.Arg140Gln LB/B rs11580170 - AGMO Q6ZNB7 VAR_062201 p.Phe279Leu LB/B rs58564185 - AGMO Q6ZNB7 VAR_062202 p.Ser280Tyr LB/B rs59160822 - AGO1 Q9UL18 VAR_078651 p.Gly199Ser LP/P - Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292] AGO1 Q9UL18 VAR_088407 p.Pro189Leu LP/P - Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292] AGO1 Q9UL18 VAR_088408 p.Leu190Pro LP/P - Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292] AGO1 Q9UL18 VAR_088409 p.Leu190Arg LP/P - Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292] AGO1 Q9UL18 VAR_088410 p.Glu195Lys US - Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292] AGO1 Q9UL18 VAR_088411 p.Asp216Val US - Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292] AGO1 Q9UL18 VAR_088412 p.Arg253His US - Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292] AGO1 Q9UL18 VAR_088413 p.Val254Ile LP/P - Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292] AGO1 Q9UL18 VAR_088414 p.Pro324Leu US - Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292] AGO1 Q9UL18 VAR_088415 p.Thr355Ile US - Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292] AGO1 Q9UL18 VAR_088416 p.Gln358Arg US - Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292] AGO1 Q9UL18 VAR_088418 p.Tyr418Phe US - Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292] AGO1 Q9UL18 VAR_088419 p.His751Leu US - Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292] AGO1 Q9UL18 VAR_088420 p.Thr781Met US - Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292] AGO1 Q9UL18 VAR_088421 p.Ile797Phe US - Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292] AGO2 Q9UKV8 VAR_085417 p.Leu192Pro LP/P - Lessel-Kreienkamp syndrome (LESKRES) [MIM:619149] AGO2 Q9UKV8 VAR_085418 p.Gly201Cys LP/P - Lessel-Kreienkamp syndrome (LESKRES) [MIM:619149] AGO2 Q9UKV8 VAR_085419 p.Gly201Val LP/P - Lessel-Kreienkamp syndrome (LESKRES) [MIM:619149] AGO2 Q9UKV8 VAR_085420 p.His203Gln LP/P - Lessel-Kreienkamp syndrome (LESKRES) [MIM:619149] AGO2 Q9UKV8 VAR_085421 p.Thr357Met LP/P - Lessel-Kreienkamp syndrome (LESKRES) [MIM:619149] AGO2 Q9UKV8 VAR_085422 p.Met364Thr LP/P - Lessel-Kreienkamp syndrome (LESKRES) [MIM:619149] AGO2 Q9UKV8 VAR_085423 p.Ala367Pro LP/P - Lessel-Kreienkamp syndrome (LESKRES) [MIM:619149] AGO2 Q9UKV8 VAR_085424 p.Gly573Ser LP/P - Lessel-Kreienkamp syndrome (LESKRES) [MIM:619149] AGO2 Q9UKV8 VAR_085425 p.Gly733Arg LP/P - Lessel-Kreienkamp syndrome (LESKRES) [MIM:619149] AGO2 Q9UKV8 VAR_085426 p.Cys751Tyr LP/P rs2072680461 Lessel-Kreienkamp syndrome (LESKRES) [MIM:619149] AGO2 Q9UKV8 VAR_085427 p.Ser760Arg LP/P - Lessel-Kreienkamp syndrome (LESKRES) [MIM:619149] AGPAT1 Q99943 VAR_050593 p.Pro30Ser LB/B rs11964847 - AGPAT2 O15120 VAR_017325 p.Ala239Val LP/P rs145975461 Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594] AGPAT2 O15120 VAR_017327 p.Leu228Pro LP/P rs104894100 Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594] AGPAT2 O15120 VAR_017328 p.Gly136Arg LP/P rs797045222 Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594] AGPAT5 Q9NUQ2 VAR_022696 p.Tyr77Cys LB/B rs17077958 - AGPS O00116 VAR_005002 p.Arg419His LP/P rs121434411 Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121] AGPS O00116 VAR_025895 p.Thr309Ile LP/P rs121434412 Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121] AGPS O00116 VAR_025896 p.Leu469Pro LP/P rs121434413 Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121] AGPS O00116 VAR_066929 p.Arg182Gln LP/P - Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121] AGPS O00116 VAR_066930 p.Glu471Lys LP/P - Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121] AGPS O00116 VAR_066931 p.Thr568Met LP/P rs387907214 Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121] AGR2 O95994 VAR_088087 p.Pro71Thr US - Respiratory infections, recurrent, and failure to thrive with or without diarrhea (RIFTD) [MIM:620233] AGR2 O95994 VAR_088088 p.His117Tyr LP/P rs780638101 Respiratory infections, recurrent, and failure to thrive with or without diarrhea (RIFTD) [MIM:620233] AGR2 O95994 VAR_088089 p.Gly143Glu US rs923936131 Respiratory infections, recurrent, and failure to thrive with or without diarrhea (RIFTD) [MIM:620233] AGRN O00468 VAR_048966 p.Val1666Ile LB/B rs17160775 - AGRN O00468 VAR_068724 p.Val23Leu LB/B - - AGRN O00468 VAR_068725 p.Asp58Asn LB/B - - AGRN O00468 VAR_068726 p.Asn105Ile LP/P - Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120] AGRN O00468 VAR_068727 p.Thr267Met LB/B - - AGRN O00468 VAR_068728 p.Ala375Ser LB/B rs138031468 - AGRN O00468 VAR_068729 p.Glu728Val LB/B rs113288277 - AGRN O00468 VAR_068730 p.Gln852Arg LB/B rs9697293 - AGRN O00468 VAR_068731 p.Val984Met LB/B - - AGRN O00468 VAR_068732 p.Leu1088Phe LB/B rs150132566 - AGRN O00468 VAR_068733 p.Thr1118Lys LB/B rs149159118 - AGRN O00468 VAR_068734 p.Gln1135Arg LB/B rs142416636 - AGRN O00468 VAR_068735 p.Pro1240Leu LB/B rs142620337 - AGRN O00468 VAR_068736 p.Gly1341Arg LB/B - - AGRN O00468 VAR_068737 p.Pro1451Leu LB/B - - AGRN O00468 VAR_068738 p.Ala1514Thr LB/B rs111818381 - AGRN O00468 VAR_068739 p.Gln1565His LB/B rs199876002 - AGRN O00468 VAR_068740 p.Arg1671Gln LB/B - - AGRN O00468 VAR_068741 p.Arg1698Pro LB/B - - AGRN O00468 VAR_068742 p.Gly1709Arg LP/P - Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120] AGRN O00468 VAR_068743 p.Arg1734His LB/B rs145444272 - AGRN O00468 VAR_068744 p.Asp1789Asn LB/B - - AGRN O00468 VAR_068745 p.Gly2046Val LB/B - - AGRN O00468 VAR_069066 p.Val1727Phe LP/P - Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120] AGRN O00468 VAR_071367 p.Gly76Ser LP/P - Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120] AGRN O00468 VAR_071368 p.Ala745Val LB/B - - AGRN O00468 VAR_071369 p.Gly1875Arg LP/P - Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120] AGRP O00253 VAR_015385 p.Ala67Thr LB/B rs5030980 - AGT P01019 VAR_007093 p.Thr198Met LB/B rs4762 - AGT P01019 VAR_007094 p.Thr233Ile LB/B rs765678426 - AGT P01019 VAR_007095 p.Leu235Arg LB/B rs5041 - AGT P01019 VAR_007096 p.Met259Thr LB/B rs699 - AGT P01019 VAR_007097 p.Tyr272Cys LB/B rs56073403 - AGT P01019 VAR_014573 p.Leu383Met LB/B rs1805090 - AGT P01019 VAR_022933 p.Leu34Phe LB/B rs41271499 - AGT P01019 VAR_029166 p.Glu89Lys LB/B rs11568032 - AGT P01019 VAR_029167 p.Met259Ile LB/B rs11568053 - AGT P01019 VAR_035431 p.Thr128Met LB/B rs34829218 - AGT P01019 VAR_035432 p.Pro326Ser LB/B rs17856352 - AGT P01019 VAR_035433 p.Arg366Gln LP/P rs74315283 Renal tubular dysgenesis (RTD) [MIM:267430] AGT P01019 VAR_051939 p.Gly105Cys LB/B rs2229389 - AGTPBP1 Q9UPW5 VAR_036884 p.Glu423Lys US - A colorectal cancer sample AGTPBP1 Q9UPW5 VAR_081909 p.Tyr694Asp LP/P rs1564071824 Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276] AGTPBP1 Q9UPW5 VAR_081911 p.Arg799Cys US rs1829302172 Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276] AGTPBP1 Q9UPW5 VAR_081912 p.Thr851Met LP/P rs760300826 Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276] AGTPBP1 Q9UPW5 VAR_081914 p.Arg910Cys US - Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276] AGTPBP1 Q9UPW5 VAR_081915 p.Arg918Trp LP/P rs1564035967 Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276] AGTPBP1 Q9UPW5 VAR_081916 p.His990Leu LP/P rs1564034077 Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276] AGTR1 P30556 VAR_011847 p.Cys289Trp LB/B rs1064533 - AGTR1 P30556 VAR_011848 p.Thr336Pro LB/B rs1801021 - AGTR1 P30556 VAR_029206 p.Ala163Thr LB/B rs12721226 - AGTR1 P30556 VAR_029207 p.Ala244Ser LB/B rs12721225 - AGTR1 P30556 VAR_035086 p.Thr282Met LP/P rs104893677 Renal tubular dysgenesis (RTD) [MIM:267430] AGTR1 P30556 VAR_070375 p.Leu222Val LB/B rs17852013 - AGTR1 P30556 VAR_070376 p.Pro341His LB/B rs17852012 - AGTR2 P50052 VAR_011849 p.Arg248Lys LB/B rs5191 - AGTR2 P50052 VAR_011850 p.Cys268Trp LB/B rs1042860 - AGTR2 P50052 VAR_049374 p.Tyr231His LB/B rs3729977 - AGTR2 P50052 VAR_065946 p.Gly21Val US rs121917810 - AGTR2 P50052 VAR_065947 p.Arg324Gln US rs35474657 - AGTR2 P50052 VAR_065948 p.Ile337Val US rs121917811 - AGTRAP Q6RW13 VAR_023075 p.Ala143Val LB/B rs17875960 - AGXT P21549 VAR_000587 p.Pro11Leu LB/B rs34116584 - AGXT P21549 VAR_000588 p.Gly41Arg LP/P rs121908523 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_000589 p.Phe152Ile LP/P rs121908524 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_000590 p.Gly170Arg LP/P rs121908529 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_000591 p.Ser187Phe LP/P rs180177238 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_000592 p.Ser205Pro LP/P rs121908520 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_000593 p.Ile340Met LB/B rs4426527 - AGXT P21549 VAR_008878 p.Gly82Glu LP/P rs121908522 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_008879 p.Arg233Cys LP/P rs121908526 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_008880 p.Arg233His LP/P rs121908527 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_008881 p.Ile244Thr LP/P rs121908525 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_010969 p.Gly41Val LP/P rs180177168 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_010971 p.Gly116Arg LP/P rs180177207 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_010972 p.Gly156Arg LP/P rs121908530 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_010973 p.Asp183Asn LP/P rs180177236 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_048236 p.Asn22Ser LB/B rs34885252 - AGXT P21549 VAR_048237 p.Ala295Thr LB/B rs13408961 - AGXT P21549 VAR_060547 p.Thr9Asn LB/B rs115014558 - AGXT P21549 VAR_060548 p.Gly82Arg LP/P rs180177185 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060549 p.Trp108Arg LP/P rs180177197 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060550 p.Ala112Asp LP/P rs796052061 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060552 p.Leu153Val LP/P rs180177223 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060553 p.Ser158Leu LP/P rs180177225 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060554 p.Gly161Arg LP/P rs180177227 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060555 p.Cys173Tyr LP/P rs180177231 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060556 p.Gly190Arg LP/P rs180177239 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060557 p.Met195Arg LP/P rs180177244 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060558 p.Asp201Glu LP/P rs180177246 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060559 p.Ser218Leu LP/P rs180177253 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060560 p.Arg233Leu LP/P rs121908527 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060561 p.Asp243His LP/P rs180177258 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060562 p.Cys253Arg LP/P rs180177264 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060563 p.Ile279Met LP/P rs180177277 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060564 p.Ile279Thr LB/B rs140992177 - AGXT P21549 VAR_060565 p.Ala280Val LB/B rs73106685 - AGXT P21549 VAR_060566 p.Ser287Thr LP/P rs180177289 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060567 p.Arg289Cys LP/P rs180177290 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060569 p.Leu298Pro LP/P rs180177293 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060570 p.Val326Ile LB/B rs115057148 - AGXT P21549 VAR_060571 p.Val336Asp LP/P rs180177155 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060572 p.Gly350Asp LP/P rs180177156 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_074582 p.Arg36Cys LP/P rs180177157 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_074583 p.Gly41Glu LP/P rs180177168 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_074584 p.Gly47Arg LP/P rs180177173 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_074585 p.Leu150Pro LP/P rs180177222 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_074586 p.Gly161Cys LP/P rs180177227 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_074587 p.Gly161Ser LP/P rs180177227 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_074588 p.Leu166Pro LP/P rs180177230 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_074589 p.Ile202Asn US rs536352238 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT2 Q9BYV1 VAR_022140 p.Val140Ile LB/B rs37369 - AGXT2 Q9BYV1 VAR_022141 p.Thr212Ile LB/B rs180749 - AGXT2 Q9BYV1 VAR_023483 p.Ser102Asn LB/B rs37370 - AGXT2 Q9BYV1 VAR_029513 p.Val498Leu LB/B rs16899974 - AGXT2 Q9BYV1 VAR_048231 p.Gly132Arg LB/B rs16870794 - AGXT2 Q9BYV1 VAR_048232 p.Pro492Arg LB/B rs17245714 - AGXT2 Q9BYV1 VAR_061006 p.Ser102Ile LB/B rs37370 - AGXT2 Q9BYV1 VAR_061007 p.Ser102Thr LB/B rs37370 - AHCTF1 Q8WYP5 VAR_027037 p.Asn874Ser LB/B rs2642990 - AHCTF1 Q8WYP5 VAR_027038 p.Leu2185Val LB/B rs12410563 - AHCY P23526 VAR_006934 p.Asp86Asn LB/B - - AHCY P23526 VAR_052286 p.Arg38Trp LB/B rs13043752 - AHCY P23526 VAR_058588 p.Arg49Cys LP/P rs369428934 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] AHCY P23526 VAR_058589 p.Asp86Gly LP/P rs773162208 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] AHCY P23526 VAR_058590 p.Ala89Val LP/P rs755222515 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] AHCY P23526 VAR_058591 p.Tyr143Cys LP/P rs121918608 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] AHCY P23526 VAR_087996 p.Gly71Ser LP/P - Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] AHCY P23526 VAR_087998 p.Tyr328Asp LP/P - Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] AHDC1 Q5TGY3 VAR_037765 p.Ala935Thr LB/B rs4908364 - AHDC1 Q5TGY3 VAR_086657 p.Pro47Ser US - Xia-Gibbs syndrome (XIGIS) [MIM:615829] AHDC1 Q5TGY3 VAR_086661 p.Arg487Trp US - Xia-Gibbs syndrome (XIGIS) [MIM:615829] AHDC1 Q5TGY3 VAR_086663 p.Gly537Asp LP/P - Xia-Gibbs syndrome (XIGIS) [MIM:615829] AHDC1 Q5TGY3 VAR_086664 p.Gly548Ser US - Xia-Gibbs syndrome (XIGIS) [MIM:615829] AHDC1 Q5TGY3 VAR_086665 p.Arg549His US - Xia-Gibbs syndrome (XIGIS) [MIM:615829] AHDC1 Q5TGY3 VAR_086667 p.Asp607Asn US - Xia-Gibbs syndrome (XIGIS) [MIM:615829] AHDC1 Q5TGY3 VAR_086670 p.Gly792Arg US - Xia-Gibbs syndrome (XIGIS) [MIM:615829] AHDC1 Q5TGY3 VAR_086681 p.Ser1348Pro LP/P - Xia-Gibbs syndrome (XIGIS) [MIM:615829] AHDC1 Q5TGY3 VAR_086682 p.Asp1457Gly LP/P - Xia-Gibbs syndrome (XIGIS) [MIM:615829] AHDC1 Q5TGY3 VAR_086683 p.Pro1478Ser US - Xia-Gibbs syndrome (XIGIS) [MIM:615829] AHI1 Q8N157 VAR_023391 p.Val443Asp LP/P rs121434350 Joubert syndrome 3 (JBTS3) [MIM:608629] AHI1 Q8N157 VAR_037892 p.Ile49Asn LB/B - - AHI1 Q8N157 VAR_037893 p.Arg548His LB/B rs35433555 - AHI1 Q8N157 VAR_037894 p.Arg723Gln LP/P rs121434351 Joubert syndrome 3 (JBTS3) [MIM:608629] AHI1 Q8N157 VAR_037895 p.Ser761Leu LB/B rs794727174 - AHI1 Q8N157 VAR_037896 p.Arg830Trp LB/B rs13312995 - AHI1 Q8N157 VAR_037897 p.Thr856Ser LB/B rs199736888 - AHI1 Q8N157 VAR_037898 p.Tyr933Cys LB/B rs41288013 - AHI1 Q8N157 VAR_037899 p.Gln1018Pro LB/B rs6940875 - AHI1 Q8N157 VAR_037900 p.Ser1123Phe LB/B rs117447608 - AHI1 Q8N157 VAR_037901 p.Pro1140Ser LB/B rs201148693 - AHI1 Q8N157 VAR_068171 p.Glu1086Gly LB/B rs148000791 - AHI1 Q8N157 VAR_071194 p.Arg351Leu LP/P rs397514726 Joubert syndrome 3 (JBTS3) [MIM:608629] AHI1 Q8N157 VAR_076820 p.Thr671Ile LP/P rs772989270 Joubert syndrome 3 (JBTS3) [MIM:608629] AHI1 Q8N157 VAR_076821 p.Asp719Gly LP/P rs863225134 Joubert syndrome 3 (JBTS3) [MIM:608629] AHI1 Q8N157 VAR_076822 p.His896Arg LP/P rs863225135 Joubert syndrome 3 (JBTS3) [MIM:608629] AHI1-DT P0C7V0 VAR_056807 p.Ala112Glu LB/B rs13197384 - AHNAK Q09666 VAR_039058 p.Gly962Val LB/B rs664761 - AHNAK Q09666 VAR_039059 p.Ala2114Thr LB/B rs1298288 - AHNAK Q09666 VAR_039060 p.Pro2439Leu LB/B rs11824660 - AHNAK Q09666 VAR_039061 p.Gln3003Lys LB/B rs566144 - AHNAK Q09666 VAR_039062 p.Val3190Ile LB/B rs11231129 - AHNAK Q09666 VAR_039063 p.Ser3724Pro LB/B rs11231128 - AHNAK Q09666 VAR_039064 p.Gly4561Asp LB/B rs12795508 - AHNAK Q09666 VAR_039065 p.Met4611Val LB/B rs12801302 - AHNAK Q09666 VAR_039066 p.Ile4613Val LB/B rs12801153 - AHNAK Q09666 VAR_039067 p.Asp4631Gly LB/B rs12801123 - AHNAK Q09666 VAR_039068 p.Thr5415Ala LB/B rs11231126 - AHNAK Q09666 VAR_061551 p.Lys2247Thr LB/B rs61524789 - AHNAK Q09666 VAR_061552 p.Asp4304Gly LB/B rs11828907 - AHNAK2 Q8IVF2 VAR_039069 p.Val1266Met LB/B rs748458962 - AHNAK2 Q8IVF2 VAR_039070 p.Leu1470Val LB/B - - AHNAK2 Q8IVF2 VAR_039071 p.Ser2115Arg LB/B rs2582514 - AHNAK2 Q8IVF2 VAR_039072 p.Asp2429Glu LB/B rs11160826 - AHNAK2 Q8IVF2 VAR_039073 p.Leu2430Val LB/B rs2819426 - AHNAK2 Q8IVF2 VAR_039074 p.Val2616Ala LB/B rs4264326 - AHNAK2 Q8IVF2 VAR_039075 p.Leu5028Met LB/B rs9672139 - AHNAK2 Q8IVF2 VAR_039076 p.Gly5564Arg LB/B rs2819420 - AHNAK2 Q8IVF2 VAR_050635 p.Thr525Ala LB/B rs2278607 - AHNAK2 Q8IVF2 VAR_050636 p.Met2107Val LB/B rs11846918 - AHNAK2 Q8IVF2 VAR_050637 p.Lys2410Arg LB/B rs11845746 - AHNAK2 Q8IVF2 VAR_050638 p.Val3796Leu LB/B - - AHNAK2 Q8IVF2 VAR_050639 p.Met3961Val LB/B rs10141053 - AHNAK2 Q8IVF2 VAR_050640 p.Ile4071Met LB/B rs754928222 - AHNAK2 Q8IVF2 VAR_050641 p.Phe4138Leu LB/B rs2582505 - AHNAK2 Q8IVF2 VAR_050642 p.Lys4232Asn LB/B rs2819423 - AHNAK2 Q8IVF2 VAR_050643 p.Val4278Ala LB/B rs2819422 - AHNAK2 Q8IVF2 VAR_050644 p.Met4536Leu LB/B rs9672139 - AHNAK2 Q8IVF2 VAR_050645 p.Thr4664Ala LB/B rs4465542 - AHNAK2 Q8IVF2 VAR_050646 p.Gly5072Arg LB/B rs2819420 - AHNAK2 Q8IVF2 VAR_050647 p.Tyr5184Asp LB/B rs2819419 - AHNAK2 Q8IVF2 VAR_050648 p.Pro5397Ala LB/B rs3742935 - AHNAK2 Q8IVF2 VAR_050649 p.Thr5732Met LB/B rs748358 - AHNAK2 Q8IVF2 VAR_059560 p.Glu1856Asp LB/B rs2819435 - AHNAK2 Q8IVF2 VAR_059561 p.Leu2146Val LB/B rs12890949 - AHNAK2 Q8IVF2 VAR_059562 p.Glu2503Ala LB/B rs2819429 - AHNAK2 Q8IVF2 VAR_059563 p.Arg2862Ser LB/B rs2582514 - AHNAK2 Q8IVF2 VAR_059564 p.Asp3176Glu LB/B rs11160826 - AHNAK2 Q8IVF2 VAR_059565 p.Leu3177Val LB/B rs2819426 - AHNAK2 Q8IVF2 VAR_059566 p.Pro3336Leu LB/B rs10438247 - AHNAK2 Q8IVF2 VAR_059567 p.Val3363Ala LB/B rs4264326 - AHNAK2 Q8IVF2 VAR_059568 p.Asp3793Asn LB/B rs11160825 - AHNAK2 Q8IVF2 VAR_059569 p.Met3869Val LB/B rs10438246 - AHNAK2 Q8IVF2 VAR_059570 p.Lys3902Asn LB/B rs2819423 - AHNAK2 Q8IVF2 VAR_059571 p.Ala4085Val LB/B rs372676751 - AHNAK2 Q8IVF2 VAR_059572 p.Asp4198Asn LB/B rs534942818 - AHNAK2 Q8IVF2 VAR_059573 p.Leu4326Pro LB/B rs2819421 - AHNAK2 Q8IVF2 VAR_059574 p.Pro4478Leu LB/B rs763391124 - AHNAK2 Q8IVF2 VAR_061548 p.Met1298Ile LB/B rs2819440 - AHNAK2 Q8IVF2 VAR_061549 p.Gly3654Glu LB/B rs28380382 - AHNAK2 Q8IVF2 VAR_061550 p.Gly5139Glu LB/B rs61421370 - AHR P35869 VAR_009281 p.Arg554Lys LB/B rs2066853 - AHR P35869 VAR_009282 p.Val570Ile LB/B rs4986826 - AHR P35869 VAR_015516 p.Pro517Ser LB/B rs72552768 - AHR P35869 VAR_015517 p.Met786Val LB/B rs72552769 - AHRR A9YTQ3 VAR_043308 p.Leu114Pro LB/B rs35008248 - AHRR A9YTQ3 VAR_043309 p.Pro189Ala LB/B rs2292596 - AHRR A9YTQ3 VAR_043310 p.Gly373Val LB/B rs2303738 - AHRR A9YTQ3 VAR_043311 p.Asp627His LB/B rs34453673 - AHSA2P Q719I0 VAR_038256 p.Met248Thr US - A breast cancer sample AHSG P02765 VAR_002388 p.Met248Thr LB/B rs4917 - AHSG P02765 VAR_002389 p.Ser256Thr LB/B rs4918 - AHSG P02765 VAR_012474 p.Asp276Asn LB/B rs70961709 - AHSG P02765 VAR_012475 p.Arg317Cys LB/B rs35457250 - AHSG P02765 VAR_055802 p.Val142Leu LB/B rs7633550 - AHSG P02765 VAR_080645 p.Arg317His US rs201849460 Alopecia-intellectual disability syndrome 1 (APMR1) [MIM:203650] AHSP Q9NZD4 VAR_050650 p.Pro100Thr LB/B rs36018996 - AICDA Q9GZX7 VAR_013774 p.Arg24Trp LP/P rs104894324 Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_013775 p.Trp80Arg LP/P rs104894320 Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_013776 p.Leu106Pro LP/P rs104894321 Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_013777 p.Met139Val LP/P rs104894322 Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_013778 p.Phe151Ser LP/P rs104894327 Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_014091 p.Arg25Cys LB/B rs1404944797 - AICDA Q9GZX7 VAR_077563 p.Phe15Leu LP/P - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_077564 p.Tyr31His LP/P - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_077565 p.His56Tyr US - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_077566 p.Cys87Arg US rs762590894 Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_077567 p.His130Pro LP/P - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_077568 p.Arg174Ser US - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AIF1 P55008 VAR_048665 p.Gly14Arg LB/B rs2736182 - AIFM1 O95831 VAR_067334 p.Gly308Glu LP/P rs1603224226 Combined oxidative phosphorylation deficiency 6 (COXPD6) [MIM:300816] AIFM1 O95831 VAR_069468 p.Glu493Val LP/P rs281864468 Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia (CMTX4) [MIM:310490] AIFM1 O95831 VAR_072791 p.Val243Leu LP/P rs1603225138 Combined oxidative phosphorylation deficiency 6 (COXPD6) [MIM:300816] AIFM1 O95831 VAR_076211 p.Thr260Ala LP/P rs863225432 Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076212 p.Leu344Phe US rs184474885 Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076213 p.Gly360Arg US rs724160026 Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076214 p.Arg422Gln LP/P rs724160021 Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076215 p.Arg422Trp LP/P rs724160020 Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076216 p.Arg430Cys US rs1223488720 Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076217 p.Arg451Gln LP/P rs863225431 Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076218 p.Ala472Val US - Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076219 p.Pro475Leu US rs724160022 Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076220 p.Val498Met US rs724160023 Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076221 p.Ile591Met US - Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614] AIFM1 O95831 VAR_083067 p.Gly262Ser LB/B rs1603224817 - AIFM1 O95831 VAR_083068 p.Gly338Glu LP/P rs1603223152 Combined oxidative phosphorylation deficiency 6 (COXPD6) [MIM:300816] AIFM1 O95831 VAR_083739 p.Gln235His LP/P rs377527583 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy (SEMDHL) [MIM:300232] AIFM1 O95831 VAR_083740 p.Asp237Gly LP/P rs1202786652 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy (SEMDHL) [MIM:300232] AIFM1 O95831 VAR_083741 p.Asp237Val LP/P rs1202786652 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy (SEMDHL) [MIM:300232] AIFM2 Q9BRQ8 VAR_050651 p.Met135Thr LB/B rs10999147 - AIFM2 Q9BRQ8 VAR_050652 p.Asp288Asn LB/B rs2271694 - AIFM3 Q96NN9 VAR_061553 p.Ser508Thr LB/B rs61356271 - AIG1 Q9NVV5 VAR_057502 p.Gln151Glu LB/B rs1053193 - AIM2 O14862 VAR_022022 p.Glu32Lys LB/B rs2276405 - AIM2 O14862 VAR_043379 p.Cys304Tyr LB/B rs778047649 - AIMP1 Q12904 VAR_025212 p.Pro79Ala LB/B rs1134648 - AIMP1 Q12904 VAR_029156 p.Thr104Ala LB/B rs113844295 - AIMP1 Q12904 VAR_050124 p.Thr117Ala LB/B rs2230255 - AIMP2 Q13155 VAR_025521 p.Ala129Gly LB/B rs17855441 - AIMP2 Q13155 VAR_050125 p.Leu166Ile LB/B rs34525431 - AIMP2 Q13155 VAR_058392 p.Ile92Val US - A lung cancer cell line AIMP2 Q13155 VAR_058394 p.Gly209Ser US rs982080297 A lung cancer cell line AIP O00170 VAR_043908 p.Arg16His LB/B rs145047094 - AIP O00170 VAR_043909 p.Gln228Lys LB/B rs641081 - AIP O00170 VAR_043910 p.Lys241Glu US rs267606573 Pituitary adenoma 1, multiple types (PITA1) [MIM:102200] AIP O00170 VAR_043912 p.Arg271Trp US rs267606579 Pituitary adenoma 1, multiple types (PITA1) [MIM:102200] AIP O00170 VAR_043913 p.Arg304Gln LP/P rs104894190 Pituitary adenoma 1, multiple types (PITA1) [MIM:102200] AIP O00170 VAR_061545 p.Arg307Gln LB/B rs4930199 - AIPL1 Q9NZN9 VAR_010139 p.Cys239Arg LP/P rs62637012 Leber congenital amaurosis 4 (LCA4) [MIM:604393] AIPL1 Q9NZN9 VAR_010140 p.Asp90His LB/B rs12449580 - AIPL1 Q9NZN9 VAR_050626 p.Val33Ala LB/B rs16955859 - AIPL1 Q9NZN9 VAR_050627 p.Tyr134Phe LB/B rs16955851 - AIPL1 Q9NZN9 VAR_067165 p.Arg270His LP/P - Leber congenital amaurosis 4 (LCA4) [MIM:604393] AIPL1 Q9NZN9 VAR_067166 p.Arg302Leu LB/B rs62637015 - AIRE O43918 VAR_005004 p.Leu28Pro LP/P rs179363878 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_005005 p.Lys83Glu LP/P rs121434255 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_005006 p.Ser278Arg LB/B rs1800520 - AIRE O43918 VAR_013713 p.Arg15Leu LP/P rs179363876 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013714 p.Thr16Met LP/P rs179363877 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013715 p.Leu29Pro LP/P rs179363879 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013716 p.Trp78Arg LP/P rs179363880 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013717 p.Val80Leu LP/P rs179363881 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013718 p.Tyr85Cys LP/P rs179363882 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013719 p.Tyr90Cys LP/P rs179363883 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013720 p.Leu93Arg LP/P rs179363884 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013721 p.Val301Met LP/P rs150634562 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013722 p.Gly305Ser US - - AIRE O43918 VAR_013723 p.Cys311Tyr LP/P rs386833674 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013724 p.Pro326Gln LP/P rs179363885 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_014422 p.Gly228Trp LP/P rs121434257 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_026480 p.Arg15Cys LP/P rs179363875 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_026481 p.Ala21Val LP/P rs179363886 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_026483 p.Phe77Ser LP/P rs179363887 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_026484 p.Pro252Leu LP/P rs34397615 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_026485 p.Pro326Leu LP/P rs179363885 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_026486 p.Pro539Leu LP/P rs179363889 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_076940 p.Glu298Lys LB/B rs763636007 - AIRE O43918 VAR_076941 p.Cys299Trp LB/B rs751066946 - AIRE O43918 VAR_076942 p.Cys302Tyr US - - AIRE O43918 VAR_076943 p.Arg303Gln LB/B rs139808903 - AIRE O43918 VAR_076944 p.Arg303Trp LB/B rs778929451 - AIRE O43918 VAR_076945 p.Gly306Arg LB/B rs754932526 - AIRE O43918 VAR_076946 p.Ile309Met LB/B rs74162062 - AIRE O43918 VAR_076947 p.Arg316Gln LB/B rs202027254 - AIRE O43918 VAR_076948 p.Arg316Trp US rs139874934 - AIRE O43918 VAR_076949 p.His319Pro LB/B rs776951380 - AIRE O43918 VAR_076950 p.Arg328Gln LB/B rs775921321 - AIRE O43918 VAR_076951 p.Arg328Trp LB/B rs74162063 - AIRE O43918 VAR_076952 p.Ser332Arg LB/B rs766901260 - AIRE O43918 VAR_076953 p.Val484Ala US rs769470638 - AJAP1 Q9UKB5 VAR_031821 p.Gly263Arg LB/B rs242056 - AK1 P00568 VAR_004021 p.Arg128Trp LP/P rs104894101 Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] AK1 P00568 VAR_034046 p.Glu123Gln LB/B rs8192462 - AK1 P00568 VAR_055337 p.Gly40Arg LP/P rs137853204 Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] AK1 P00568 VAR_055338 p.Gly64Arg LP/P rs137853205 Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] AK1 P00568 VAR_055340 p.Tyr164Cys LP/P rs137853203 Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] AK2 P54819 VAR_050032 p.Ala209Thr LB/B rs12116440 - AK2 P54819 VAR_054630 p.Arg103Trp LP/P rs267606648 Reticular dysgenesis (RDYS) [MIM:267500] AK2 P54819 VAR_054631 p.Asp165Gly LP/P rs267606643 Reticular dysgenesis (RDYS) [MIM:267500] AK5 Q9Y6K8 VAR_059435 p.Arg465Gln LB/B rs2803140 - AK7 Q96M32 VAR_017059 p.Arg102Gln LB/B rs2275554 - AK7 Q96M32 VAR_057950 p.Asn389Lys LB/B rs2369679 - AK7 Q96M32 VAR_080917 p.Leu673Pro LP/P rs116298211 Spermatogenic failure 27 (SPGF27) [MIM:617965] AK8 Q96MA6 VAR_030873 p.Ile5Thr LB/B rs2231400 - AK8 Q96MA6 VAR_030874 p.Asp130Gly LB/B rs17407084 - AKAP1 Q92667 VAR_024512 p.Val60Met LB/B rs2230770 - AKAP1 Q92667 VAR_049676 p.Ala18Val LB/B rs17761023 - AKAP1 Q92667 VAR_049677 p.Cys102Tyr LB/B rs2230771 - AKAP1 Q92667 VAR_049678 p.Arg124Cys LB/B rs17833723 - AKAP10 O43572 VAR_024607 p.Arg249His LB/B rs2108978 - AKAP10 O43572 VAR_024608 p.Ile646Val LB/B rs203462 - AKAP11 Q9UKA4 VAR_020131 p.Ser721Cys LB/B rs2236364 - AKAP11 Q9UKA4 VAR_048207 p.His1070Arg LB/B rs17063163 - AKAP11 Q9UKA4 VAR_048208 p.Leu1410Phe LB/B rs17063167 - AKAP12 Q02952 VAR_035115 p.Lys117Glu LB/B rs10872670 - AKAP12 Q02952 VAR_035116 p.Lys216Gln LB/B rs3734799 - AKAP12 Q02952 VAR_035117 p.Glu920Gly LB/B rs13212161 - AKAP12 Q02952 VAR_035118 p.Val1096Ile LB/B rs3734797 - AKAP12 Q02952 VAR_035119 p.Arg1296Leu LB/B rs9478198 - AKAP12 Q02952 VAR_035120 p.Glu1355Lys LB/B rs12201388 - AKAP12 Q02952 VAR_035121 p.Glu1600Asp LB/B rs3823310 - AKAP12 Q02952 VAR_035122 p.Glu1689Asp LB/B rs3734795 - AKAP12 Q02952 VAR_035780 p.Glu240Lys US rs552053449 A colorectal cancer sample AKAP12 Q02952 VAR_056731 p.Ala987Ser LB/B rs1042069 - AKAP13 Q12802 VAR_030925 p.Met452Thr LB/B rs2061821 - AKAP13 Q12802 VAR_030926 p.Trp494Arg LB/B rs2061822 - AKAP13 Q12802 VAR_030927 p.Arg574Cys LB/B rs2061824 - AKAP13 Q12802 VAR_030928 p.Gly624Val LB/B rs745191 - AKAP13 Q12802 VAR_030929 p.Glu689Lys LB/B rs7177107 - AKAP13 Q12802 VAR_030930 p.Val845Ala LB/B rs4075256 - AKAP13 Q12802 VAR_030931 p.Val897Met LB/B rs4075254 - AKAP13 Q12802 VAR_030932 p.Pro1062Ala LB/B rs4843074 - AKAP13 Q12802 VAR_030933 p.Asp1086Asn LB/B rs4843075 - AKAP13 Q12802 VAR_030934 p.Met1216Thr LB/B rs7162168 - AKAP13 Q12802 VAR_030935 p.Gly2457Ser LB/B rs2241268 - AKAP13 Q12802 VAR_030936 p.Ala2801Thr LB/B rs2614668 - AKAP13 Q12802 VAR_051986 p.Lys526Gln LB/B rs34434221 - AKAP13 Q12802 VAR_051987 p.Ser1525Gly LB/B rs35079107 - AKAP17A Q02040 VAR_055353 p.Pro194Ser LB/B rs17852504 - AKAP3 O75969 VAR_036428 p.Arg831Cys US rs143517596 A colorectal cancer sample AKAP3 O75969 VAR_055488 p.Gly118Glu LB/B rs2072355 - AKAP3 O75969 VAR_055489 p.Ile500Thr LB/B rs12366671 - AKAP3 O75969 VAR_055490 p.Ile661Thr LB/B rs1990313 - AKAP3 O75969 VAR_055491 p.Ser700Phe LB/B rs2041291 - AKAP3 O75969 VAR_055492 p.Ser725Leu LB/B rs2072357 - AKAP3 O75969 VAR_059112 p.Ser700Pro LB/B rs2041290 - AKAP3 O75969 VAR_060730 p.Thr464Ser LB/B rs11063266 - AKAP3 O75969 VAR_061000 p.Glu525Lys LB/B rs1990312 - AKAP3 O75969 VAR_088458 p.Cys15Tyr US - Spermatogenic failure 82 (SPGF82) [MIM:620353] AKAP4 Q5JQC9 VAR_027266 p.Ala673Gly LB/B rs12012704 - AKAP4 Q5JQC9 VAR_048206 p.His233Arg LB/B rs17174078 - AKAP5 P24588 VAR_056732 p.Pro100Leu LB/B rs2230491 - AKAP5 P24588 VAR_056733 p.Glu314Lys LB/B rs34433837 - AKAP5 P24588 VAR_060735 p.Thr203Ile LB/B rs1256149 - AKAP6 Q13023 VAR_028171 p.Ala337Val LB/B rs3742926 - AKAP6 Q13023 VAR_028172 p.Asn408Ser LB/B rs17099240 - AKAP6 Q13023 VAR_028173 p.Ala1492Val LB/B rs11845640 - AKAP6 Q13023 VAR_028174 p.Asn2035Asp LB/B rs1051695 - AKAP6 Q13023 VAR_028175 p.Phe2171Tyr LB/B rs4647899 - AKAP6 Q13023 VAR_028176 p.Asp2209His LB/B rs4402458 - AKAP6 Q13023 VAR_035781 p.Lys910Met US - A breast cancer sample AKAP6 Q13023 VAR_035782 p.Met1192Ile US - A breast cancer sample AKAP6 Q13023 VAR_035783 p.Glu1702Gln US - A breast cancer sample AKAP6 Q13023 VAR_035784 p.Pro1839Thr US rs745389246 A colorectal cancer sample AKAP6 Q13023 VAR_050653 p.Asn558Asp LB/B rs35210906 - AKAP6 Q13023 VAR_050654 p.Glu892Lys LB/B rs34572259 - AKAP6 Q13023 VAR_050655 p.Thr1516Ala LB/B rs17099587 - AKAP6 Q13023 VAR_050656 p.Val1522Ile LB/B rs34711402 - AKAP6 Q13023 VAR_050657 p.Glu2267Asp LB/B rs35977369 - AKAP7 Q9P0M2 VAR_024246 p.Glu26Lys LB/B rs7771473 - AKAP7 Q9P0M2 VAR_024247 p.Ser215Asn LB/B rs1190788 - AKAP8 O43823 VAR_036534 p.Gln664His US - A breast cancer sample AKAP8L Q9ULX6 VAR_068822 p.Gln458His LB/B rs2058322 - AKAP9 Q99996 VAR_024249 p.Met463Ile LB/B rs6964587 - AKAP9 Q99996 VAR_030162 p.Asn2792Ser LB/B rs6960867 - AKAP9 Q99996 VAR_030163 p.Pro2979Ser LB/B rs1063242 - AKAP9 Q99996 VAR_035785 p.Met2409Ile US - A colorectal cancer sample AKAP9 Q99996 VAR_035786 p.Glu3297Gln US rs756245027 A breast cancer sample AKAP9 Q99996 VAR_043489 p.Ser1570Leu LP/P rs121908566 Long QT syndrome 11 (LQT11) [MIM:611820] AKAP9 Q99996 VAR_043490 p.Lys2484Arg LB/B rs35759833 - AKAP9 Q99996 VAR_043491 p.Gln3444Arg LB/B rs34956633 - AKAP9 Q99996 VAR_043492 p.Met3614Val LB/B rs34327395 - AKIP1 Q9NQ31 VAR_021565 p.Arg23Lys LB/B rs1133833 - AKIP1 Q9NQ31 VAR_050688 p.Ile132Thr LB/B rs35131475 - AKNA Q7Z591 VAR_032586 p.Pro624Leu LB/B rs3748176 - AKNA Q7Z591 VAR_032587 p.Gln1097Arg LB/B rs1265891 - AKNA Q7Z591 VAR_032588 p.Arg1119Gln LB/B rs3748178 - AKNA Q7Z591 VAR_032589 p.Ser1303Pro LB/B rs2250242 - AKNA Q7Z591 VAR_032590 p.Tyr1327Cys LB/B rs2787344 - AKNAD1 Q5T1N1 VAR_044198 p.Ser61Asn LB/B rs1277207 - AKNAD1 Q5T1N1 VAR_044199 p.Ala104Val LB/B rs17621411 - AKNAD1 Q5T1N1 VAR_044200 p.Glu167Gly LB/B rs17852793 - AKNAD1 Q5T1N1 VAR_044201 p.His255Tyr LB/B rs9440631 - AKNAD1 Q5T1N1 VAR_044202 p.Leu352Val LB/B rs11580913 - AKNAD1 Q5T1N1 VAR_044203 p.Asn616Lys LB/B rs7551421 - AKNAD1 Q5T1N1 VAR_044204 p.Cys654Tyr LB/B rs7522157 - AKNAD1 Q5T1N1 VAR_061565 p.Gly582Val LB/B rs12060255 - AKR1A1 P14550 VAR_048212 p.Asn52Ser LB/B rs2229540 - AKR1A1 P14550 VAR_058909 p.Glu55Asp LB/B rs6690497 - AKR1B1 P15121 VAR_014743 p.Ile15Phe LB/B rs5054 - AKR1B1 P15121 VAR_014744 p.His42Leu LB/B rs5056 - AKR1B1 P15121 VAR_014745 p.Leu73Val LB/B rs5057 - AKR1B1 P15121 VAR_014746 p.Gly204Ser LB/B rs5061 - AKR1B1 P15121 VAR_014747 p.Thr288Ile LB/B rs5062 - AKR1B1 P15121 VAR_048213 p.Lys90Glu LB/B rs2229542 - AKR1B10 O60218 VAR_013287 p.Asn313Asp LB/B rs4728329 - AKR1B10 O60218 VAR_020077 p.Pro87Ser LB/B rs2303312 - AKR1B10 O60218 VAR_020078 p.Met286Thr LB/B rs3735042 - AKR1C1 Q04828 VAR_048214 p.Arg170His LB/B rs139588200 - AKR1C1 Q04828 VAR_048215 p.Gln172Leu LB/B rs760575583 - AKR1C2 P52895 VAR_014748 p.Leu172Gln LB/B rs11474 - AKR1C2 P52895 VAR_048216 p.Phe46Tyr LB/B rs2854482 - AKR1C2 P52895 VAR_066632 p.Ile79Val LP/P rs387906750 46,XY sex reversal 8 (SRXY8) [MIM:614279] AKR1C2 P52895 VAR_066633 p.His90Gln LP/P rs797044460 46,XY sex reversal 8 (SRXY8) [MIM:614279] AKR1C2 P52895 VAR_066634 p.His222Gln LP/P rs13222 46,XY sex reversal 8 (SRXY8) [MIM:614279] AKR1C2 P52895 VAR_066635 p.Asn300Thr LP/P rs387906751 46,XY sex reversal 8 (SRXY8) [MIM:614279] AKR1C3 P42330 VAR_013288 p.His5Gln LB/B rs12529 - AKR1C3 P42330 VAR_013289 p.Met175Ile LB/B rs1131132 - AKR1C3 P42330 VAR_032767 p.Arg66Gln LB/B rs35961894 - AKR1C3 P42330 VAR_032768 p.Arg170Cys LB/B rs35575889 - AKR1C3 P42330 VAR_032769 p.Pro180Ser LB/B rs34186955 - AKR1C3 P42330 VAR_061001 p.Glu77Gly LB/B rs11551177 - AKR1C4 P17516 VAR_013290 p.Ser145Cys LB/B rs3829125 - AKR1C4 P17516 VAR_013291 p.Leu311Val LB/B rs17134592 - AKR1C4 P17516 VAR_028240 p.Gly135Glu LB/B rs11253043 - AKR1C4 P17516 VAR_028241 p.Cys170Tyr LB/B rs17851824 - AKR1C4 P17516 VAR_028242 p.Gln250Arg LB/B rs4880718 - AKR1C8 Q5T2L2 VAR_032355 p.Arg50His LB/B rs7097295 - AKR1D1 P51857 VAR_033007 p.Leu106Phe LP/P rs121918343 Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555] AKR1D1 P51857 VAR_033008 p.Pro198Leu LP/P rs121918342 Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555] AKR1D1 P51857 VAR_044430 p.Pro133Arg LP/P rs267606649 Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555] AKR1D1 P51857 VAR_044431 p.Arg261Cys LP/P rs267606650 Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555] AKR1D1 P51857 VAR_081756 p.Gly223Glu LP/P rs1228918719 Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555] AKR1E2 Q96JD6 VAR_032356 p.Cys52Gly LB/B rs35429729 - AKR1E2 Q96JD6 VAR_032357 p.Lys86Arg LB/B rs17133693 - AKR7A2 O43488 VAR_017413 p.Ala142Thr LB/B rs1043657 - AKR7A2 O43488 VAR_017414 p.Gln157His LB/B rs859208 - AKR7A2 O43488 VAR_017415 p.Cys214Tyr LB/B rs2235794 - AKR7A2 O43488 VAR_048209 p.Val135Met LB/B rs6670759 - AKR7A2 O43488 VAR_048210 p.Gly198Ser LB/B rs2231200 - AKR7A2 O43488 VAR_048211 p.Ser255Asn LB/B rs2231203 - AKR7A2 O43488 VAR_060222 p.Glu180Lys LB/B rs859210 - AKR7A3 O95154 VAR_017416 p.Val138Met LB/B rs2231198 - AKR7A3 O95154 VAR_017417 p.Asn215Asp LB/B rs1738023 - AKR7A3 O95154 VAR_017418 p.Thr323Ala LB/B rs1738025 - AKR7L Q8NHP1 VAR_046190 p.Ala255Thr LB/B rs2235795 - AKR7L Q8NHP1 VAR_046191 p.Phe322Val LB/B rs2982534 - AKT1 P31749 VAR_051617 p.Val167Ala LB/B rs11555433 - AKT1 P31749 VAR_055422 p.Glu17Lys LP/P rs121434592 Breast cancer (BC) [MIM:114480] AKT1 P31749 VAR_055422 p.Glu17Lys LP/P rs121434592 Proteus syndrome (PROTEUSS) [MIM:176920] AKT1 P31749 VAR_069791 p.Arg25Cys LP/P rs397514644 Cowden syndrome 6 (CWS6) [MIM:615109] AKT1 P31749 VAR_069792 p.Thr435Pro LP/P rs397514645 Cowden syndrome 6 (CWS6) [MIM:615109] AKT1S1 Q96B36 VAR_028239 p.Ala47Pro LB/B rs17850191 - AKT2 P31751 VAR_040356 p.Ile188Val LB/B rs55859611 - AKT2 P31751 VAR_040357 p.Arg208Lys LB/B rs35817154 - AKT2 P31751 VAR_067309 p.Glu17Lys LP/P rs387906659 Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) [MIM:240900] AKT2 P31751 VAR_067310 p.Arg274His LB/B rs121434593 - AKT3 Q9Y243 VAR_040358 p.Gly171Arg US rs1402272180 A glioblastoma multiforme sample AKT3 Q9Y243 VAR_065830 p.Glu17Lys US rs397514606 Melanoma AKT3 Q9Y243 VAR_065830 p.Glu17Lys LP/P rs397514606 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937] AKT3 Q9Y243 VAR_069260 p.Asn229Ser LP/P rs397514605 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937] AKT3 Q9Y243 VAR_069261 p.Arg465Trp LP/P rs587776935 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937] ALAD P13716 VAR_003633 p.Lys59Asn LB/B rs1800435 - ALAD P13716 VAR_003634 p.Gly133Arg LP/P rs121912980 Acute hepatic porphyria (AHEPP) [MIM:612740] ALAD P13716 VAR_003635 p.Arg240Trp LP/P rs121912982 Acute hepatic porphyria (AHEPP) [MIM:612740] ALAD P13716 VAR_003636 p.Ala274Thr LP/P rs121912983 Acute hepatic porphyria (AHEPP) [MIM:612740] ALAD P13716 VAR_003637 p.Val275Met LP/P rs121912981 Acute hepatic porphyria (AHEPP) [MIM:612740] ALAD P13716 VAR_020973 p.Phe12Leu LB/B rs121912984 - ALAD P13716 VAR_020974 p.Val153Met LP/P rs1554740221 Acute hepatic porphyria (AHEPP) [MIM:612740] ALAS2 P22557 VAR_000562 p.Thr388Ser LP/P rs137852300 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_000563 p.Arg411Cys LP/P rs137852305 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_000564 p.Ile476Asn LP/P rs137852299 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_012334 p.Tyr199His LP/P rs137852310 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_012335 p.Arg204Gln LP/P rs1338391423 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_012336 p.Arg448Gln LP/P - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_012337 p.Arg452Cys LP/P rs137852311 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_018604 p.Asp159Tyr LP/P rs137852308 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_018605 p.Arg560His LP/P rs892041887 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066232 p.Lys156Glu LP/P - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066233 p.Arg170His LP/P - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066234 p.Arg218His LP/P rs185504937 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066235 p.Glu242Lys LP/P - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066236 p.Asp263Asn LP/P - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066237 p.Pro339Leu LP/P - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066238 p.Arg375Cys LP/P - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066239 p.Arg411His LP/P - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066240 p.Arg452Gly LP/P - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066241 p.Arg452His LP/P rs863223904 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066242 p.Pro520Leu LP/P rs201062903 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066243 p.Arg572His LP/P - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066244 p.Tyr586Phe LB/B rs139596860 - ALAS2 P22557 VAR_072328 p.Phe165Leu LP/P rs137852301 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_072329 p.Arg170Cys LP/P - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_072330 p.Val301Ala LP/P - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_072331 p.Arg517Gly LP/P - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALB P02768 VAR_000499 p.Arg23Cys LB/B rs80008208 - ALB P02768 VAR_000500 p.Arg23His LB/B rs72552709 - ALB P02768 VAR_000501 p.Arg24Leu LB/B rs74821926 - ALB P02768 VAR_000502 p.Arg24Pro LB/B rs74821926 - ALB P02768 VAR_000503 p.Arg24Gln LB/B rs74821926 - ALB P02768 VAR_000504 p.Asp25Val LB/B rs75353611 - ALB P02768 VAR_000505 p.His27Gln LB/B rs76285851 - ALB P02768 VAR_000506 p.His27Tyr LB/B rs141733599 - ALB P02768 VAR_000507 p.Glu84Lys LB/B rs77050410 - ALB P02768 VAR_000508 p.Asp87Asn LB/B rs78574148 - ALB P02768 VAR_000509 p.Glu106Lys LB/B rs80296402 - ALB P02768 VAR_000510 p.Arg138Gly LB/B rs77238412 - ALB P02768 VAR_000511 p.Glu143Lys LB/B rs75522063 - ALB P02768 VAR_000512 p.His152Arg LB/B rs80095457 - ALB P02768 VAR_000513 p.Cys201Phe LB/B rs77656691 - ALB P02768 VAR_000514 p.Arg242His LP/P rs75002628 Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999] ALB P02768 VAR_000515 p.Lys249Gln LB/B rs79804069 - ALB P02768 VAR_000516 p.Lys264Glu LB/B rs79377490 - ALB P02768 VAR_000517 p.Gln292Arg LB/B rs80002911 - ALB P02768 VAR_000518 p.Asp293Gly LB/B rs79744198 - ALB P02768 VAR_000519 p.Lys300Asn LB/B rs74718349 - ALB P02768 VAR_000520 p.Lys337Asn LB/B rs72552710 - ALB P02768 VAR_000521 p.Asn342Lys LB/B rs77544362 - ALB P02768 VAR_000522 p.Ala344Thr LB/B rs78953271 - ALB P02768 VAR_000523 p.Glu345Lys LB/B rs72552711 - ALB P02768 VAR_000524 p.Glu357Lys LB/B rs77354753 - ALB P02768 VAR_000525 p.Glu378Lys LB/B rs76593094 - ALB P02768 VAR_000526 p.Glu382Lys LB/B rs75791663 - ALB P02768 VAR_000527 p.Asp389His LB/B rs77187142 - ALB P02768 VAR_000528 p.Asp389Val LB/B rs78538497 - ALB P02768 VAR_000529 p.Lys396Glu LB/B rs78166690 - ALB P02768 VAR_000530 p.Asp399Asn LB/B rs77514449 - ALB P02768 VAR_000531 p.Glu400Lys LB/B rs79047363 - ALB P02768 VAR_000532 p.Glu400Gln LB/B rs79047363 - ALB P02768 VAR_000533 p.Glu406Lys LB/B rs76483862 - ALB P02768 VAR_000534 p.Glu503Lys LB/B rs80259813 - ALB P02768 VAR_000535 p.Asp518Asn LB/B rs75920790 - ALB P02768 VAR_000536 p.Glu525Lys LB/B rs75523493 - ALB P02768 VAR_000537 p.Glu529Lys LB/B rs74826639 - ALB P02768 VAR_000538 p.Lys560Glu LB/B rs77645174 - ALB P02768 VAR_000539 p.Lys565Glu LB/B rs80345158 - ALB P02768 VAR_000540 p.Asp574Gly LB/B rs79738788 - ALB P02768 VAR_000541 p.Asp574Ala LB/B rs79738788 - ALB P02768 VAR_000542 p.Asp587Asn LB/B rs76587671 - ALB P02768 VAR_000543 p.Glu589Lys LB/B rs75709682 - ALB P02768 VAR_000544 p.Glu594Lys LB/B rs79228041 - ALB P02768 VAR_000545 p.Lys597Glu LB/B rs80106970 - ALB P02768 VAR_000546 p.Lys598Asn LB/B rs75738598 - ALB P02768 VAR_010657 p.Phe73Tyr LB/B - - ALB P02768 VAR_013011 p.Leu90Pro LP/P rs77892378 Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999] ALB P02768 VAR_013012 p.Val146Glu LB/B rs77752336 - ALB P02768 VAR_013013 p.Arg242Pro LP/P rs75002628 Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999] ALB P02768 VAR_013014 p.Asp338Gly LB/B rs76242087 - ALB P02768 VAR_013015 p.Asp338Val LB/B rs76242087 - ALB P02768 VAR_013016 p.Lys383Asn LB/B rs75069738 - ALB P02768 VAR_013017 p.Arg434Cys LB/B rs78575701 - ALB P02768 VAR_013018 p.Val557Met LB/B rs78284052 - ALB P02768 VAR_013019 p.Lys584Glu LB/B rs76671808 - ALB P02768 VAR_014290 p.Glu121Gly LB/B - - ALB P02768 VAR_014291 p.Ala215Thr LB/B rs3210154 - ALB P02768 VAR_014292 p.Ala215Val LB/B rs3204504 - ALB P02768 VAR_014293 p.Gln220Leu LB/B rs3210163 - ALB P02768 VAR_014294 p.Glu420Lys LB/B - - ALB P02768 VAR_014295 p.Lys490Glu LB/B rs1063469 - ALCAM Q13740 VAR_003907 p.Asn258Ser LB/B rs1044240 - ALCAM Q13740 VAR_003908 p.Thr301Met LB/B rs1044243 - ALCAM Q13740 VAR_029514 p.Gly229Asp LB/B rs10933819 - ALCAM Q13740 VAR_029515 p.Leu315Met LB/B rs12629872 - ALCAM Q13740 VAR_029516 p.Val352Met LB/B rs2291375 - ALCAM Q13740 VAR_049856 p.Met367Ile LB/B rs34926152 - ALDH16A1 Q8IZ83 VAR_037638 p.Glu110Lys LB/B rs3745312 - ALDH16A1 Q8IZ83 VAR_037639 p.Leu227Val LB/B rs1320303 - ALDH18A1 P54886 VAR_038482 p.Arg84Gln LP/P rs121434582 Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150] ALDH18A1 P54886 VAR_051792 p.Thr299Ile LP/P rs2275272 Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150] ALDH18A1 P54886 VAR_051793 p.Ser372Tyr LB/B rs3765571 - ALDH18A1 P54886 VAR_058006 p.His784Tyr LP/P rs121434583 Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150] ALDH18A1 P54886 VAR_075884 p.Gly93Arg LP/P - Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150] ALDH18A1 P54886 VAR_075885 p.Val120Ala LP/P rs863224945 Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162] ALDH18A1 P54886 VAR_075886 p.Arg128His LP/P rs768323248 Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586] ALDH18A1 P54886 VAR_075887 p.Arg138Leu LP/P rs863225045 Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603] ALDH18A1 P54886 VAR_075888 p.Arg138Gln LP/P rs863225045 Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603] ALDH18A1 P54886 VAR_075889 p.Arg138Trp LP/P rs863225044 Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603] ALDH18A1 P54886 VAR_075890 p.Val243Leu LP/P rs864321669 Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162] ALDH18A1 P54886 VAR_075891 p.Arg252Gln LP/P rs864321670 Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162] ALDH18A1 P54886 VAR_075892 p.Leu637Pro LP/P rs869320690 Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586] ALDH18A1 P54886 VAR_075893 p.Ser652Phe LP/P - Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162] ALDH18A1 P54886 VAR_075894 p.Arg665Leu LP/P rs766264810 Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162] ALDH18A1 P54886 VAR_075895 p.Asp715His LP/P rs752669339 Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586] ALDH18A1 P54886 VAR_075896 p.Tyr782Cys LP/P rs774047299 Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150] ALDH1A1 P00352 VAR_017778 p.Ile177Phe LB/B rs8187929 - ALDH1A1 P00352 VAR_048901 p.Asn121Ser LB/B rs1049981 - ALDH1A1 P00352 VAR_048902 p.Gly125Arg LB/B rs11554423 - ALDH1A2 O94788 VAR_025439 p.Glu50Gly LB/B rs34266719 - ALDH1A2 O94788 VAR_025440 p.Ala110Val LB/B rs35365164 - ALDH1A2 O94788 VAR_025441 p.Val348Ile LB/B rs4646626 - ALDH1A2 O94788 VAR_025442 p.Glu436Lys LB/B rs34744827 - ALDH1A2 O94788 VAR_087721 p.Gln182Lys LP/P - Diaphragmatic hernia 4, with cardiovascular defects (DIH4) [MIM:620025] ALDH1A2 O94788 VAR_087722 p.Arg347His LP/P rs141245344 Diaphragmatic hernia 4, with cardiovascular defects (DIH4) [MIM:620025] ALDH1A2 O94788 VAR_087723 p.Ala383Thr US rs749124508 Diaphragmatic hernia 4, with cardiovascular defects (DIH4) [MIM:620025] ALDH1A2 O94788 VAR_087724 p.Ser461Tyr LP/P - Diaphragmatic hernia 4, with cardiovascular defects (DIH4) [MIM:620025] ALDH1A3 P47895 VAR_019706 p.Met386Val LB/B rs3803430 - ALDH1A3 P47895 VAR_069322 p.Arg89Cys LP/P rs397514652 Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_069323 p.Ala145Val LP/P rs754619607 Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_069324 p.Ile369Phe LP/P - Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_069325 p.Ala493Pro LP/P rs397514653 Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_072332 p.Val71Met LP/P rs386834230 Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_072333 p.Cys174Tyr LP/P - Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_072334 p.Pro355Arg LP/P - Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_072335 p.Gly382Arg LP/P - Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_072336 p.Glu411Lys LP/P - Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_072337 p.Asn466Lys LP/P - Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1B1 P30837 VAR_002257 p.Ala86Val LB/B rs2228093 - ALDH1B1 P30837 VAR_002258 p.Arg107Leu LB/B rs2073478 - ALDH1B1 P30837 VAR_029891 p.Thr202Ile LB/B rs4646773 - ALDH1B1 P30837 VAR_029892 p.Val253Met LB/B rs4878199 - ALDH1L1 O75891 VAR_036101 p.Ala511Val US rs768309358 A colorectal cancer sample ALDH1L1 O75891 VAR_052290 p.Leu254Pro LB/B rs3796191 - ALDH1L1 O75891 VAR_052291 p.Val330Phe LB/B rs2886059 - ALDH1L1 O75891 VAR_052292 p.Glu429Ala LB/B rs9282691 - ALDH1L1 O75891 VAR_052293 p.Ala436Thr LB/B rs9282692 - ALDH1L1 O75891 VAR_052295 p.Ser448Asn LB/B rs9282697 - ALDH1L1 O75891 VAR_052296 p.Ser481Gly LB/B rs2276724 - ALDH1L1 O75891 VAR_052297 p.Asp793Gly LB/B rs1127717 - ALDH1L1 O75891 VAR_052298 p.Glu803Lys LB/B rs9282689 - ALDH1L1 O75891 VAR_052299 p.Ile812Val LB/B rs4646750 - ALDH2 P05091 VAR_002248 p.Glu504Lys LP/P rs671 AMED syndrome, digenic (AMEDS) [MIM:619151] ALDH2 P05091 VAR_011302 p.Glu496Lys LB/B rs769724893 - ALDH2 P05091 VAR_011869 p.Glu337Val LB/B rs1062136 - ALDH3A1 P30838 VAR_011303 p.Pro329Ala LB/B rs2228100 - ALDH3A1 P30838 VAR_018981 p.Ser134Ala LB/B rs887241 - ALDH3A1 P30838 VAR_018982 p.Gly309Glu LB/B rs3744692 - ALDH3A2 P51648 VAR_002249 p.Leu106Arg LP/P rs72547558 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002250 p.Cys214Tyr LP/P rs72547564 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002251 p.Cys226Trp LP/P rs72547565 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002252 p.Asp245Asn LP/P rs72547568 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002254 p.Pro315Ser LP/P rs72547571 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002255 p.Ser365Leu LP/P rs72547573 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002256 p.Gly412Arg LP/P rs778115541 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017510 p.Ile45Phe LP/P - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017511 p.Val64Asp LP/P rs72547556 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017512 p.Pro114Leu LP/P rs72547559 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017513 p.Pro121Leu LP/P rs72547560 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017514 p.Thr184Met LP/P rs72547562 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017515 p.Thr184Arg LP/P - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017516 p.Gly185Ala LP/P rs72547563 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017517 p.Arg228Cys LP/P rs72547566 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017518 p.Cys237Tyr LP/P rs72547567 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017519 p.Lys266Asn LP/P rs72547569 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017520 p.Tyr279Asn LP/P rs72547570 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017521 p.Met328Ile LP/P rs72547572 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017522 p.Asn386Ser LP/P rs72547575 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017523 p.Gly406Arg LP/P - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017524 p.His411Tyr LP/P - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017525 p.Ser415Asn LP/P - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017526 p.Phe419Ser LP/P rs72547576 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017527 p.Arg423His LP/P rs768290318 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017528 p.Lys447Glu LP/P rs67939114 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3B2 P48448 VAR_022058 p.Ala50Thr LB/B rs3741178 - ALDH3B2 P48448 VAR_055699 p.Ser302Arg LB/B rs4646826 - ALDH3B2 P48448 VAR_058696 p.Ser52Asn LB/B rs1551888 - ALDH3B2 P48448 VAR_058697 p.His203Arg LB/B rs6591270 - ALDH3B2 P48448 VAR_058698 p.Ser220Gly LB/B rs2447571 - ALDH3B2 P48448 VAR_058699 p.Arg276Trp LB/B rs17856219 - ALDH3B2 P48448 VAR_058700 p.His361Arg LB/B rs1551886 - ALDH4A1 P30038 VAR_002259 p.Pro16Leu LB/B rs146450609 - ALDH4A1 P30038 VAR_002260 p.Ser352Leu LP/P rs137852937 Hyperprolinemia 2 (HYRPRO2) [MIM:239510] ALDH4A1 P30038 VAR_029337 p.Val470Ile LB/B rs2230709 - ALDH4A1 P30038 VAR_048903 p.Thr473Ala LB/B rs6695033 - ALDH5A1 P51649 VAR_016758 p.His180Tyr LB/B rs2760118 - ALDH5A1 P51649 VAR_016759 p.Pro182Leu LB/B rs3765310 - ALDH5A1 P51649 VAR_026199 p.Cys93Phe LP/P rs765561257 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026200 p.Gly176Arg LP/P rs72552281 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026201 p.Cys223Tyr LP/P rs72552282 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026202 p.Thr233Met LP/P rs1326526453 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026203 p.Asn255Ser LP/P rs145087265 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026204 p.Gly268Glu LP/P rs375628463 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026205 p.Asn335Lys LP/P rs72552283 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026206 p.Pro382Leu LP/P - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026207 p.Pro382Gln LP/P - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026208 p.Gly409Asp LP/P rs118203984 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026209 p.Val487Glu LP/P - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026210 p.Gly533Arg LP/P rs72552284 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026227 p.Gly36Arg LB/B rs4646832 - ALDH5A1 P51649 VAR_026228 p.Ala237Ser LB/B rs62621664 - ALDH5A1 P51649 VAR_026229 p.Val406Ile LB/B rs143741652 - ALDH5A1 P51649 VAR_069047 p.Asn372Ser LB/B - - ALDH6A1 Q02252 VAR_010244 p.Gly446Arg US rs72552258 Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [MIM:614105] ALDH6A1 Q02252 VAR_088433 p.Tyr172His US rs869320672 Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [MIM:614105] ALDH6A1 Q02252 VAR_088434 p.Arg535Cys US rs367863044 Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [MIM:614105] ALDH7A1 P49419 VAR_028202 p.Thr412Ala LB/B rs2306618 - ALDH7A1 P49419 VAR_028203 p.Lys439Gln LB/B rs12514417 - ALDH7A1 P49419 VAR_031718 p.Ala199Val LP/P rs121912709 Epilepsy, early-onset, 4, vitamin B6-dependent (EPEO4) [MIM:266100] ALDH7A1 P49419 VAR_031719 p.Glu427Gln LP/P rs121912707 Epilepsy, early-onset, 4, vitamin B6-dependent (EPEO4) [MIM:266100] ALDH7A1 P49419 VAR_069184 p.Gly202Val LP/P - Epilepsy, early-onset, 4, vitamin B6-dependent (EPEO4) [MIM:266100] ALDH7A1 P49419 VAR_069185 p.Gly291Glu LP/P - Epilepsy, early-onset, 4, vitamin B6-dependent (EPEO4) [MIM:266100] ALDH7A1 P49419 VAR_069186 p.Asn301Ile LP/P rs121912711 Epilepsy, early-onset, 4, vitamin B6-dependent (EPEO4) [MIM:266100] ALDH7A1 P49419 VAR_069187 p.Arg335Gln LP/P rs754449549 Epilepsy, early-onset, 4, vitamin B6-dependent (EPEO4) [MIM:266100] ALDH7A1 P49419 VAR_069188 p.Val395Gly LP/P - Epilepsy, early-onset, 4, vitamin B6-dependent (EPEO4) [MIM:266100] ALDH7A1 P49419 VAR_069189 p.Ser458Asn LP/P - Epilepsy, early-onset, 4, vitamin B6-dependent (EPEO4) [MIM:266100] ALDH8A1 Q9H2A2 VAR_037618 p.Phe402Ser LB/B rs2294315 - ALDH9A1 P49189 VAR_011304 p.Cys116Ser LB/B - - ALDOA P04075 VAR_000550 p.Asp129Gly LP/P rs121909533 Glycogen storage disease 12 (GSD12) [MIM:611881] ALDOA P04075 VAR_044142 p.Glu207Lys LP/P rs121909534 Glycogen storage disease 12 (GSD12) [MIM:611881] ALDOA P04075 VAR_044143 p.Cys339Tyr LP/P - Glycogen storage disease 12 (GSD12) [MIM:611881] ALDOA P04075 VAR_044144 p.Gly347Ser LP/P rs138824667 Glycogen storage disease 12 (GSD12) [MIM:611881] ALDOA P04075 VAR_048219 p.Glu82Gln LB/B rs11553107 - ALDOA P04075 VAR_048220 p.Gly142Val LB/B rs11553108 - ALDOB P05062 VAR_000551 p.Cys135Arg LP/P - Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000552 p.Trp148Arg LB/B rs118204430 - ALDOB P05062 VAR_000553 p.Ala150Pro LP/P rs1800546 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000554 p.Ala175Asp LP/P rs76917243 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000555 p.Leu257Pro LP/P rs764701775 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000556 p.Arg304Trp LP/P rs555935217 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000557 p.Asn335Lys LP/P rs78340951 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000558 p.Ala338Val LP/P rs77718928 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_020822 p.Ile74Thr LP/P rs781023784 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_020824 p.Pro185Arg LP/P - Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_020825 p.Glu207Gln LB/B rs3739721 - ALDOB P05062 VAR_020826 p.Val222Phe LP/P rs1554702442 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_020827 p.Leu229Pro LP/P rs1554702433 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_020828 p.Arg304Gln LP/P rs145078268 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_038429 p.Arg134Ser LB/B rs10123355 - ALDOB P05062 VAR_038430 p.Ile268Asn LB/B rs10989495 - ALDOB P05062 VAR_058211 p.Cys178Arg LP/P - Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_058212 p.Leu284Pro LP/P - Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_075348 p.Arg46Trp LP/P rs41281039 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_075349 p.Tyr343His LP/P rs369586696 Hereditary fructose intolerance (HFI) [MIM:229600] ALG1 Q9BT22 VAR_023364 p.Ser150Arg LP/P rs121908340 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_023365 p.Ser258Leu LP/P rs28939378 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_023366 p.Gln342Pro LP/P rs267606651 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_023367 p.Asp429Glu LB/B rs9745522 - ALG1 Q9BT22 VAR_038425 p.Ser267Asn LB/B rs17849848 - ALG1 Q9BT22 VAR_038426 p.Leu325Met LB/B rs17852920 - ALG1 Q9BT22 VAR_038427 p.Gln455Arg LB/B rs17856919 - ALG1 Q9BT22 VAR_049350 p.Arg438Trp LP/P rs16835020 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077187 p.Gln50Arg LP/P rs794726944 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077188 p.Ser71Phe LP/P rs200605408 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077189 p.His74Leu LP/P rs201337379 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077190 p.Leu88Val LP/P rs794727301 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077191 p.Pro98Leu LP/P rs1596252105 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077192 p.Leu114Phe LP/P rs1596252196 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077193 p.Ile209Ser LP/P rs1596256204 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077194 p.Arg276Trp LP/P rs151173406 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077195 p.Val281Phe LP/P rs553396382 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077196 p.Asp289Gly LP/P rs1180515976 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077197 p.Asp291Val LP/P rs192564717 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077198 p.Tyr353Asp LP/P rs1596259672 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077199 p.Gly358Arg LP/P rs886042742 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077200 p.Ser359Leu LP/P rs1299775990 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077201 p.Ala360Val LP/P rs398124348 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077202 p.Gly363Ala LP/P rs1596261161 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077203 p.Leu366Gln LP/P rs1596261208 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077204 p.His367Gln LP/P rs1428414601 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077205 p.Met382Lys LP/P rs1596261268 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077206 p.Gly384Arg LP/P rs1057520122 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077207 p.Pro388Ser LP/P rs398124349 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG10B Q5I7T1 VAR_023753 p.Ile446Val LB/B rs61730283 - ALG10B Q5I7T1 VAR_048217 p.Ala84Gly LB/B rs6582584 - ALG10B Q5I7T1 VAR_061002 p.Ser383Asn LB/B rs57963306 - ALG11 Q2TAA5 VAR_055902 p.Asn108Ser LB/B rs17480245 - ALG11 Q2TAA5 VAR_064908 p.Leu86Ser LP/P rs267606652 Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661] ALG11 Q2TAA5 VAR_068070 p.Tyr279Ser LP/P rs387907181 Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661] ALG11 Q2TAA5 VAR_068071 p.Gln318Pro LP/P rs387907184 Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661] ALG11 Q2TAA5 VAR_068072 p.Leu381Ser LP/P rs387907182 Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661] ALG11 Q2TAA5 VAR_068073 p.Glu398Lys LP/P rs387907183 Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661] ALG12 Q9BV10 VAR_017904 p.Thr67Met LP/P rs121907931 Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143] ALG12 Q9BV10 VAR_017905 p.Phe142Val LP/P rs28942090 Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143] ALG12 Q9BV10 VAR_017906 p.Arg146Gln LP/P rs121907932 Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143] ALG12 Q9BV10 VAR_017907 p.Leu158Pro LP/P rs121907934 Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143] ALG12 Q9BV10 VAR_024466 p.Ile393Val LB/B rs3922872 - ALG12 Q9BV10 VAR_038428 p.Gly101Arg LP/P rs121907933 Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143] ALG13 Q9NP73 VAR_069218 p.Lys94Glu LP/P rs867599353 Developmental and epileptic encephalopathy 36 (DEE36) [MIM:300884] ALG13 Q9NP73 VAR_069412 p.Asn107Ser LP/P rs398122394 Developmental and epileptic encephalopathy 36 (DEE36) [MIM:300884] ALG14 Q96F25 VAR_029635 p.Val14Met LB/B rs11165298 - ALG14 Q96F25 VAR_073331 p.Pro65Leu LP/P rs730882050 Myasthenic syndrome, congenital, 15 (CMS15) [MIM:616227] ALG14 Q96F25 VAR_084707 p.Asp74Asn LP/P rs769114543 Myopathy, epilepsy, and progressive cerebral atrophy (MEPCA) [MIM:619036] ALG14 Q96F25 VAR_084709 p.Arg109Gln US rs199689080 Myopathy, epilepsy, and progressive cerebral atrophy (MEPCA) [MIM:619036] ALG14 Q96F25 VAR_084710 p.Val141Gly US rs139005007 Myopathy, epilepsy, and progressive cerebral atrophy (MEPCA) [MIM:619036] ALG2 Q9H553 VAR_049351 p.Ser11Pro LB/B rs11545137 - ALG2 Q9H553 VAR_049352 p.Val367Ala LB/B rs35626507 - ALG2 Q9H553 VAR_073332 p.Val68Gly LP/P rs730882051 Myasthenic syndrome, congenital, 14 (CMS14) [MIM:616228] ALG3 Q92685 VAR_010306 p.Gly118Asp LP/P rs28940588 Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110] ALG3 Q92685 VAR_037805 p.Ile107Val LB/B rs2233463 - ALG3 Q92685 VAR_037806 p.Arg171Gln LP/P rs119103236 Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110] ALG5 Q9Y673 VAR_087727 p.Arg208His LP/P rs749484470 Polycystic kidney disease 7 (PKD7) [MIM:620056] ALG5 Q9Y673 VAR_087728 p.Arg212His LP/P rs1332833799 Polycystic kidney disease 7 (PKD7) [MIM:620056] ALG6 Q9Y672 VAR_013442 p.Ser304Phe LB/B rs4630153 - ALG6 Q9Y672 VAR_013443 p.Ala333Val LP/P rs121908443 Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147] ALG6 Q9Y672 VAR_013444 p.Ser478Pro LP/P rs121908444 Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147] ALG6 Q9Y672 VAR_022511 p.Tyr131His LP/P rs35383149 Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147] ALG6 Q9Y672 VAR_022512 p.Ser170Ile LP/P - Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147] ALG6 Q9Y672 VAR_022513 p.Gly227Glu LP/P rs372079206 Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147] ALG6 Q9Y672 VAR_022514 p.Ser308Arg LP/P - Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147] ALG6 Q9Y672 VAR_055493 p.Lys226Asn LB/B rs35604168 - ALG8 Q9BVK2 VAR_023480 p.Thr47Pro LP/P rs121908293 Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104] ALG8 Q9BVK2 VAR_023481 p.Asn222Ser LB/B rs665278 - ALG8 Q9BVK2 VAR_023482 p.Gly275Asp LP/P rs121908294 Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104] ALG8 Q9BVK2 VAR_031596 p.Ile439Thr LB/B rs17825668 - ALG9 Q9H6U8 VAR_023410 p.Tyr287Cys LP/P rs121908023 Congenital disorder of glycosylation 1L (CDG1L) [MIM:608776] ALG9 Q9H6U8 VAR_023411 p.Val289Ile LB/B rs10502151 - ALG9 Q9H6U8 VAR_023412 p.Pro506Leu LB/B rs185149177 - ALG9 Q9H6U8 VAR_023413 p.Glu523Lys LP/P rs121908022 Congenital disorder of glycosylation 1L (CDG1L) [MIM:608776] ALG9 Q9H6U8 VAR_049221 p.Ala232Pro LB/B rs36111204 - ALG9 Q9H6U8 VAR_049222 p.Ser255Leu LB/B rs17113312 - ALG9 Q9H6U8 VAR_049223 p.Ile528Ser LB/B rs12575909 - ALK Q9UM73 VAR_031042 p.Ile1461Val LB/B rs1670283 - ALK Q9UM73 VAR_031043 p.Lys1491Arg LB/B rs1881420 - ALK Q9UM73 VAR_031044 p.Asp1529Glu LB/B rs1881421 - ALK Q9UM73 VAR_041477 p.Ser90Leu LB/B rs34617074 - ALK Q9UM73 VAR_041478 p.Val163Leu LB/B rs55697431 - ALK Q9UM73 VAR_041479 p.Glu296Gln LB/B rs56077855 - ALK Q9UM73 VAR_041480 p.Val476Ala LB/B rs35093491 - ALK Q9UM73 VAR_041481 p.Leu560Phe US - A breast pleomorphic lobular carcinoma sample ALK Q9UM73 VAR_041482 p.Thr680Ile LB/B rs35228363 - ALK Q9UM73 VAR_041483 p.Ala704Thr LB/B rs34829159 - ALK Q9UM73 VAR_041484 p.Ala877Ser US rs746442213 An ovarian serous carcinoma sample ALK Q9UM73 VAR_041485 p.Thr1012Met LB/B rs35073634 - ALK Q9UM73 VAR_041486 p.Gly1121Asp LB/B rs55760835 - ALK Q9UM73 VAR_041487 p.Ala1274Thr LB/B rs45502292 - ALK Q9UM73 VAR_041488 p.Met1328Leu LB/B rs56160491 - ALK Q9UM73 VAR_041489 p.Lys1416Asn LB/B rs55782189 - ALK Q9UM73 VAR_041490 p.Glu1419Lys LB/B rs56181542 - ALK Q9UM73 VAR_041491 p.Gln1429Arg LB/B rs55906201 - ALK Q9UM73 VAR_055987 p.Phe1376Ser LB/B rs17694720 - ALK Q9UM73 VAR_055988 p.Pro1599His LB/B rs1881423 - ALK Q9UM73 VAR_061288 p.Leu868Gln LB/B rs55941323 - ALK Q9UM73 VAR_063850 p.Asp1091Asn LP/P rs864309584 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063851 p.Gly1128Ala LP/P rs113994088 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063852 p.Thr1151Met LP/P rs113994091 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063853 p.Met1166Arg LP/P rs1057520019 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063854 p.Ile1171Asn LP/P rs1057519698 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063855 p.Phe1174Cys LP/P rs1057519697 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063856 p.Phe1174Ile LP/P rs281864719 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063857 p.Phe1174Leu LP/P rs863225281 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063858 p.Phe1174Val LP/P rs281864719 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063859 p.Arg1192Pro LP/P rs113994089 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063860 p.Ala1234Thr LP/P - Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063861 p.Phe1245Cys LP/P rs863225283 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063862 p.Phe1245Val LP/P rs281864720 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063863 p.Ile1250Thr LP/P rs113994092 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063864 p.Arg1275Leu LB/B rs113994087 - ALK Q9UM73 VAR_063865 p.Arg1275Gln LP/P rs113994087 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063866 p.Tyr1278Ser LP/P rs863225285 Neuroblastoma 3 (NBLST3) [MIM:613014] ALKBH1 Q13686 VAR_048221 p.Met135Ile LB/B rs17825440 - ALKBH1 Q13686 VAR_048222 p.Met324Leu LB/B rs6494 - ALKBH2 Q6NS38 VAR_048223 p.Arg203His LB/B rs33962311 - ALKBH2 Q6NS38 VAR_086049 p.Ala9Val US - - ALKBH2 Q6NS38 VAR_086050 p.Gln10Lys LB/B rs138073204 - ALKBH3 Q96Q83 VAR_026631 p.Asp228Glu LB/B rs1130290 - ALKBH3 Q96Q83 VAR_026632 p.Arg164Cys LB/B rs2271815 - ALKBH4 Q9NXW9 VAR_061004 p.Ala247Val LB/B rs41275227 - ALKBH7 Q9BT30 VAR_048224 p.Arg191Gln LB/B rs7540 - ALMS1 Q8TCU4 VAR_025433 p.Val672Gly LB/B rs2037814 - ALMS1 Q8TCU4 VAR_025434 p.Ser2112Arg LB/B rs6724782 - ALMS1 Q8TCU4 VAR_025435 p.Ser2575Asn LB/B rs3820700 - ALMS1 Q8TCU4 VAR_025436 p.Asp2673His LB/B rs2017116 - ALMS1 Q8TCU4 VAR_056734 p.Gly1413Ala LB/B rs886038612 - ALMS1 Q8TCU4 VAR_059575 p.Ile1876Val LB/B rs6546838 - ALMS1 Q8TCU4 VAR_059576 p.Arg2285Pro LB/B rs6546839 - ALMS1 Q8TCU4 VAR_059577 p.Asn2857Ser LB/B rs10193972 - ALMS1 Q8TCU4 VAR_059578 p.Lys3435Glu LB/B rs34071195 - ALOX12 P18054 VAR_004279 p.Ala298Thr LB/B - - ALOX12 P18054 VAR_018743 p.Gln261Arg LB/B rs1126667 - ALOX12 P18054 VAR_018744 p.Asn322Ser LB/B rs434473 - ALOX12 P18054 VAR_018745 p.Arg430His LB/B rs11571342 - ALOX12 P18054 VAR_030471 p.Glu259Lys LB/B rs4987104 - ALOX12 P18054 VAR_082032 p.Asp134His LB/B rs114985038 - ALOX12B O75342 VAR_015173 p.Leu426Pro LP/P rs137853023 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_015174 p.His578Gln LP/P rs137853024 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_050000 p.Gly94Ser LB/B rs8077661 - ALOX12B O75342 VAR_069545 p.Leu24Pro LP/P rs201575829 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069546 p.Ile67Phe LP/P rs397514533 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069547 p.Arg114Trp LP/P rs397514526 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069548 p.Pro127Ser LP/P rs72842957 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069549 p.Phe195Leu LP/P rs200516538 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069550 p.Tyr318Cys LP/P - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069551 p.Lys382Glu LP/P rs1567981916 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069552 p.Thr383Met LP/P rs760428119 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069553 p.Asn416Lys LP/P rs1039399607 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069554 p.Gly462Asp LP/P rs774958790 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069555 p.Arg488His LP/P rs763468558 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069556 p.Tyr521Cys LP/P rs199766569 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069557 p.Val527Met LP/P rs199545653 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069558 p.Ala597Glu LP/P rs752509098 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069559 p.Ala664Pro LP/P - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069560 p.Arg679Leu LP/P rs397514528 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX15 P16050 VAR_018746 p.Asp90His LB/B rs11568142 - ALOX15 P16050 VAR_018747 p.Asn103Lys LB/B rs11568099 - ALOX15 P16050 VAR_018748 p.Arg205Gln LB/B rs11568101 - ALOX15 P16050 VAR_035036 p.Gly102Val LB/B rs41439950 - ALOX15 P16050 VAR_035037 p.Val239Met LB/B rs3892408 - ALOX15 P16050 VAR_035038 p.Ala461Pro LB/B rs17852628 - ALOX15 P16050 VAR_035039 p.Thr560Met LB/B rs34210653 - ALOX15 P16050 VAR_083449 p.Arg402Trp US - - ALOX15 P16050 VAR_083450 p.Gly422Glu US - - ALOX15 P16050 VAR_083451 p.Gly422Arg US - - ALOX15 P16050 VAR_083452 p.Pro617Ser US - - ALOX15B O15296 VAR_024524 p.Gln656Arg LB/B rs4792147 - ALOX15B O15296 VAR_024525 p.Ile676Val LB/B rs7225107 - ALOX15B O15296 VAR_061334 p.Arg486His LB/B rs9895916 - ALOX15B O15296 VAR_083544 p.Ala416Asp LB/B rs140152561 - ALOX5 P09917 VAR_028018 p.Glu254Lys LB/B rs2228065 - ALOX5 P09917 VAR_083301 p.Pro337Ser US - - ALOX5 P09917 VAR_083302 p.Ala447Ser US - - ALOX5 P09917 VAR_083303 p.Ala549Val US - - ALOX5 P09917 VAR_083304 p.Pro577Leu US - - ALOX5 P09917 VAR_083305 p.Thr591Met US - - ALOX5 P09917 VAR_083306 p.Lys656Gln US - - ALOXE3 Q9BYJ1 VAR_015175 p.Arg396Ser LP/P rs121434234 Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] ALOXE3 Q9BYJ1 VAR_015176 p.Val500Phe LP/P rs121434232 Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] ALOXE3 Q9BYJ1 VAR_069561 p.Leu237Met LP/P rs121434235 Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] ALOXE3 Q9BYJ1 VAR_069562 p.Gly281Val LP/P rs786205120 Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] ALOXE3 Q9BYJ1 VAR_069564 p.Leu427Pro LP/P rs1355284797 Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] ALOXE3 Q9BYJ1 VAR_069565 p.Pro630Leu LP/P rs147149459 Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] ALPG P10696 VAR_027553 p.Leu273Met LB/B rs17416141 - ALPG P10696 VAR_027554 p.Leu316Arg LB/B rs183793479 - ALPG P10696 VAR_027555 p.Gly527Glu LB/B rs1048999 - ALPI P09923 VAR_011816 p.His298Leu LB/B rs1047223 - ALPI P09923 VAR_050524 p.Arg144His LB/B rs7559279 - ALPK1 Q96QP1 VAR_028982 p.Asn175Asp LB/B rs6533616 - ALPK1 Q96QP1 VAR_028983 p.Gly565Asp LB/B rs2074388 - ALPK1 Q96QP1 VAR_028984 p.His642Arg LB/B rs13148353 - ALPK1 Q96QP1 VAR_028985 p.Met732Ile LB/B rs2074379 - ALPK1 Q96QP1 VAR_028986 p.Met861Thr LB/B rs11726117 - ALPK1 Q96QP1 VAR_028987 p.Gly870Ser LB/B rs2074380 - ALPK1 Q96QP1 VAR_028988 p.Asn916Asp LB/B rs2074381 - ALPK1 Q96QP1 VAR_041511 p.Gln67Arg LB/B rs33943680 - ALPK1 Q96QP1 VAR_041512 p.Thr292Met LB/B rs34120296 - ALPK1 Q96QP1 VAR_041513 p.Leu320Met LB/B rs757602009 - ALPK1 Q96QP1 VAR_041514 p.Lys339Glu US - An ovarian mucinous carcinoma sample ALPK1 Q96QP1 VAR_041515 p.Lys383Glu LB/B rs147641444 - ALPK1 Q96QP1 VAR_041516 p.Pro660Leu LB/B rs35389530 - ALPK1 Q96QP1 VAR_041517 p.Gly681Asp LB/B rs35519493 - ALPK1 Q96QP1 VAR_041518 p.Arg873Ile LB/B rs34946272 - ALPK1 Q96QP1 VAR_041519 p.Glu910Asp LB/B rs35308602 - ALPK1 Q96QP1 VAR_041520 p.Pro935Leu LB/B rs34780600 - ALPK1 Q96QP1 VAR_041521 p.Arg1084Gln LB/B rs34677416 - ALPK1 Q96QP1 VAR_041522 p.Leu1117Pro LB/B rs35756863 - ALPK1 Q96QP1 VAR_041523 p.Ala1160Gly LB/B rs55696324 - ALPK1 Q96QP1 VAR_057741 p.His1008Pro LB/B rs34079946 - ALPK1 Q96QP1 VAR_084993 p.Thr237Met LP/P - Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome (ROSAH) [MIM:614979] ALPK2 Q86TB3 VAR_045591 p.Glu942Lys US - An ovarian undifferentiated carcinoma sample ALPK2 Q86TB3 VAR_045593 p.Leu1296Val LB/B rs3809976 - ALPK2 Q86TB3 VAR_045594 p.Lys1476Thr US - A melanoma metastatic sample ALPK2 Q86TB3 VAR_045595 p.Glu1969Lys LB/B rs1313881443 - ALPK2 Q86TB3 VAR_054914 p.Lys2Thr LB/B rs6566987 - ALPK2 Q86TB3 VAR_054915 p.Arg136Ser LB/B rs9944810 - ALPK2 Q86TB3 VAR_054916 p.His719Gln LB/B rs12103986 - ALPK2 Q86TB3 VAR_054917 p.Gly810Ser LB/B rs3809970 - ALPK2 Q86TB3 VAR_054918 p.Arg825Thr LB/B rs3809972 - ALPK2 Q86TB3 VAR_054919 p.Lys829Asn LB/B rs3809973 - ALPK2 Q86TB3 VAR_054920 p.Ser884Leu LB/B rs3809974 - ALPK2 Q86TB3 VAR_054921 p.Thr891Ile LB/B rs3826593 - ALPK2 Q86TB3 VAR_054922 p.Asn916Lys LB/B rs4940404 - ALPK2 Q86TB3 VAR_054923 p.Ser977Thr LB/B rs3809975 - ALPK2 Q86TB3 VAR_054924 p.Leu1057Val LB/B rs3809976 - ALPK2 Q86TB3 VAR_054925 p.Lys1134Asn LB/B rs35791514 - ALPK2 Q86TB3 VAR_054926 p.His1174Pro LB/B rs3809977 - ALPK2 Q86TB3 VAR_054927 p.Pro1449Ser LB/B rs3809982 - ALPK2 Q86TB3 VAR_054928 p.Ala1551Ser LB/B rs3809983 - ALPK2 Q86TB3 VAR_054929 p.Gln1579Arg LB/B rs33910491 - ALPK2 Q86TB3 VAR_054930 p.Lys1729Glu LB/B rs34409558 - ALPK2 Q86TB3 VAR_054931 p.Lys1730Glu LB/B rs17065127 - ALPK2 Q86TB3 VAR_054932 p.His1767Tyr LB/B rs7234999 - ALPK2 Q86TB3 VAR_054933 p.Ile2157Val LB/B rs7240666 - ALPK2 Q86TB3 VAR_057742 p.Arg1884Cys LB/B rs33969768 - ALPK2 Q86TB3 VAR_062168 p.Gly1063Val LB/B rs34347938 - ALPK2 Q86TB3 VAR_082163 p.Ala29Val LB/B rs138405027 - ALPK2 Q86TB3 VAR_082164 p.Ala202Thr LB/B rs115979836 - ALPK2 Q86TB3 VAR_082165 p.Ser388Leu LB/B rs147887741 - ALPK2 Q86TB3 VAR_082166 p.Thr397Ile LB/B rs79863383 - ALPK2 Q86TB3 VAR_082167 p.Ala457Val LB/B rs199872766 - ALPK2 Q86TB3 VAR_082168 p.Thr875Pro LB/B rs34109891 - ALPK2 Q86TB3 VAR_082169 p.Ala969Thr LB/B rs371835741 - ALPK2 Q86TB3 VAR_082170 p.Leu1288Ser LB/B rs35882005 - ALPK2 Q86TB3 VAR_082171 p.Lys1745Asn LB/B rs56206581 - ALPK2 Q86TB3 VAR_082172 p.Gln1853Glu LB/B rs55674018 - ALPK2 Q86TB3 VAR_082173 p.Ala1919Thr LB/B rs374271622 - ALPK2 Q86TB3 VAR_082174 p.Ala1978Thr LB/B rs146618330 - ALPK3 Q96L96 VAR_028989 p.Thr212Ser LB/B rs3803403 - ALPK3 Q96L96 VAR_028990 p.Gly377Glu LB/B rs3803405 - ALPK3 Q96L96 VAR_028991 p.Thr559Met LB/B rs16974569 - ALPK3 Q96L96 VAR_028992 p.Pro1097Leu LB/B rs306197 - ALPK3 Q96L96 VAR_028993 p.Leu1420Pro LB/B rs187316 - ALPK3 Q96L96 VAR_041524 p.Arg134His LB/B rs34407151 - ALPK3 Q96L96 VAR_041525 p.Thr136Ile LB/B rs56015306 - ALPK3 Q96L96 VAR_041526 p.Gln231Glu US - A lung large cell carcinoma sample ALPK3 Q96L96 VAR_041527 p.Gln400Arg LB/B rs55702300 - ALPK3 Q96L96 VAR_041528 p.Gly461Asp LB/B rs34409363 - ALPK3 Q96L96 VAR_041529 p.Arg634Leu LB/B rs34906636 - ALPK3 Q96L96 VAR_041530 p.Glu727Asp LB/B rs56191073 - ALPK3 Q96L96 VAR_041531 p.Gly1162Glu US - A metastatic melanoma sample ALPK3 Q96L96 VAR_041532 p.Arg1210Trp LB/B rs55752937 - ALPK3 Q96L96 VAR_041533 p.Ala1355Asp LB/B rs34775428 - ALPK3 Q96L96 VAR_057743 p.Glu811Lys LB/B rs35633849 - ALPK3 Q96L96 VAR_057744 p.Ala935Gly LB/B rs34173528 - ALPK3 Q96L96 VAR_057745 p.Ala1671Val LB/B rs36002219 - ALPL P05186 VAR_006147 p.Ala33Val LP/P rs121918005 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006148 p.Met62Leu LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006149 p.Arg71Cys LP/P rs121918001 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006150 p.Arg71Pro LP/P rs121918003 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006151 p.Ala111Thr LP/P rs773257111 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006152 p.Arg136His LP/P rs121918011 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006153 p.Gly162Val LP/P rs121918012 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006154 p.His171Tyr LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006155 p.Ala177Thr LP/P rs199669988 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006155 p.Ala177Thr LP/P rs199669988 Hypophosphatasia, childhood (HPPC) [MIM:241510] ALPL P05186 VAR_006156 p.Ala179Thr LP/P rs121918000 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006157 p.Glu191Gly LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006158 p.Glu191Lys LP/P rs121918007 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006159 p.Cys201Tyr LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006160 p.Gln207Pro LP/P rs121918004 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006161 p.Tyr263His LB/B rs3200254 - ALPL P05186 VAR_006162 p.Leu289Phe LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006163 p.Asp294Ala LP/P rs121918002 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006164 p.Asp306Val LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006165 p.Phe327Leu LP/P rs121918010 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006165 p.Phe327Leu LP/P rs121918010 Hypophosphatasia, infantile (HPPI) [MIM:241500] ALPL P05186 VAR_006166 p.Gly334Asp LP/P rs121918009 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006167 p.Asp378Val LP/P rs121918008 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006168 p.Val382Ile LP/P rs771540767 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006169 p.Tyr436His LP/P rs121918006 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006170 p.Glu476Lys LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011081 p.Ala40Val LP/P rs770093969 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011082 p.Thr134Asn LP/P rs780583917 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011083 p.Ala176Thr LP/P rs121918019 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011084 p.Lys224Glu LP/P rs1226800998 Hypophosphatasia, infantile (HPPI) [MIM:241500] ALPL P05186 VAR_011085 p.Arg246Ser LP/P rs1223142821 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011086 p.Ala348Thr LP/P rs1553414563 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011087 p.His381Arg LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011088 p.Asp406Gly LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011089 p.Gly426Cys LP/P - Hypophosphatasia, infantile (HPPI) [MIM:241500] ALPL P05186 VAR_011090 p.Arg450His LP/P rs150799088 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011091 p.Gly456Arg LP/P rs121918016 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011091 p.Gly456Arg LP/P rs121918016 Hypophosphatasia, infantile (HPPI) [MIM:241500] ALPL P05186 VAR_011092 p.Asn478Ile LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011093 p.Cys489Ser LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011094 p.Val522Ala LB/B rs34605986 - ALPL P05186 VAR_013146 p.Ala132Val LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013972 p.Tyr28Cys LP/P - Hypophosphatasia, infantile (HPPI) [MIM:241500] ALPL P05186 VAR_013973 p.Ala51Val LP/P rs1470389268 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013974 p.Gly63Val LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013975 p.Arg71His LP/P rs121918003 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013976 p.Gly75Ser LP/P rs1304394441 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013977 p.Ala116Thr LP/P rs121918013 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013978 p.Gly120Arg LP/P rs954135116 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013979 p.Gly129Arg LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013980 p.Arg152His LP/P rs149344982 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013981 p.Asn170Asp LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013982 p.Ser181Leu LP/P rs199590449 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013983 p.Arg184Trp LP/P rs763159520 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013984 p.Asn211Asp LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013985 p.Gly220Val LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013986 p.Arg223Trp LP/P rs766076920 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013986 p.Arg223Trp LP/P rs766076920 Hypophosphatasia, childhood (HPPC) [MIM:241510] ALPL P05186 VAR_013987 p.Glu235Gly LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013988 p.Gly249Val LP/P rs121918018 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013989 p.Glu291Lys LP/P rs786204473 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013990 p.Asp294Tyr LP/P rs1553414079 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013991 p.Gly326Arg LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013992 p.Phe327Gly LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013993 p.Arg391Cys LP/P rs371243939 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013994 p.Ala399Ser LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013995 p.Val423Ala LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013996 p.Ser445Pro LP/P rs1553415041 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013997 p.Arg450Cys LP/P rs138690664 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013998 p.Val459Met LP/P rs1054159992 Hypophosphatasia, infantile (HPPI) [MIM:241500] ALPL P05186 VAR_013999 p.Gly473Ser LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_014000 p.Ile490Phe LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_014001 p.Gly491Arg LP/P rs1413274209 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025903 p.Ser17Phe LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025904 p.Ala51Ser LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025905 p.Met62Val LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025906 p.Gly63Arg LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025907 p.Thr68Met LP/P - Hypophosphatasia, childhood (HPPC) [MIM:241510] ALPL P05186 VAR_025908 p.Arg71Ser LP/P rs121918001 Hypophosphatasia, childhood (HPPC) [MIM:241510] ALPL P05186 VAR_025909 p.Gln76Arg LP/P rs1057521085 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025910 p.Pro108Leu LP/P rs121918015 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025911 p.Ala114Gly LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025912 p.Val128Met LP/P rs1159854007 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025913 p.Thr134His LP/P rs786204530 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025914 p.Thr148Ile LP/P rs1376937780 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025915 p.Gly162Ser LP/P rs760029254 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025916 p.His171Arg LP/P rs778232217 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025917 p.Asp189Glu LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025918 p.Ile212Phe LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025919 p.Gly220Ala LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025920 p.Arg223Gln LP/P rs199665722 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025921 p.Arg272His LP/P rs781272386 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025922 p.Arg272Leu LP/P rs781272386 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025923 p.Leu275Pro LP/P rs1237252052 Hypophosphatasia, childhood (HPPC) [MIM:241510] ALPL P05186 VAR_025924 p.Pro292Thr LP/P rs765458125 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025926 p.Met295Thr LP/P rs1220125702 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025927 p.Tyr297Asp LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025928 p.Glu298Lys LP/P rs121918017 Hypophosphatasia, infantile (HPPI) [MIM:241500] ALPL P05186 VAR_025929 p.Leu299Pro LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025930 p.Glu311Lys LP/P rs763457259 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025932 p.Gly339Arg LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025933 p.Glu354Asp LP/P rs1553414568 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025934 p.Arg391His LP/P rs1442918125 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025934 p.Arg391His LP/P rs1442918125 Hypophosphatasia, childhood (HPPC) [MIM:241510] ALPL P05186 VAR_025935 p.Thr411Ala LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025936 p.Leu414Met LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025937 p.Asn417Ser LP/P rs121918014 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025938 p.Gly426Asp LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025939 p.Glu452Lys LP/P rs966212736 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025940 p.Ala468Thr LP/P rs1196976671 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_075557 p.Gly334Arg LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_075558 p.Gly420Ala LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_075559 p.Gly420Ser LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_075560 p.Val459Leu LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_075561 p.Glu476Ala LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_085155 p.Gly82Arg LP/P - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_085156 p.Arg152Cys US - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_085157 p.Ser188Pro US - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_085158 p.Ile218Ser US - Hypophosphatasia (HOPS) [MIM:146300] ALPP P05187 VAR_017419 p.Pro25Leu LB/B rs1130335 - ALPP P05187 VAR_050520 p.Ile89Leu LB/B rs13026692 - ALPP P05187 VAR_050521 p.Arg231Pro LB/B rs1048988 - ALPP P05187 VAR_050522 p.Arg263His LB/B rs2853378 - ALPP P05187 VAR_050523 p.Glu451Gly LB/B rs1048994 - ALS2 Q96Q42 VAR_015655 p.His102Arg LB/B rs1416065347 - ALS2 Q96Q42 VAR_015656 p.Val368Met LB/B rs3219156 - ALS2 Q96Q42 VAR_015657 p.Arg1406Lys LB/B rs1559033861 - ALS2 Q96Q42 VAR_036747 p.Ile94Val LB/B rs3219154 - ALS2 Q96Q42 VAR_036748 p.Glu159Lys LB/B rs3219155 - ALS2 Q96Q42 VAR_036749 p.Ser1255Phe LB/B rs10206276 - ALS2CL Q60I27 VAR_037791 p.Glu45Gln LB/B rs7642448 - ALS2CL Q60I27 VAR_037792 p.Gln280Glu US - A breast cancer sample ALS2CL Q60I27 VAR_037793 p.Leu576Phe US - A breast cancer sample ALS2CL Q60I27 VAR_061554 p.Gln29Arg LB/B rs59661801 - ALX3 O95076 VAR_047475 p.Pro234Ala LB/B rs12749726 - ALX3 O95076 VAR_063226 p.Leu168Val LP/P rs121908167 Frontonasal dysplasia 1 (FND1) [MIM:136760] ALX3 O95076 VAR_063227 p.Arg183Trp LP/P rs121908168 Frontonasal dysplasia 1 (FND1) [MIM:136760] ALX3 O95076 VAR_063228 p.Arg196Trp LP/P rs121908170 Frontonasal dysplasia 1 (FND1) [MIM:136760] ALX3 O95076 VAR_063229 p.Asn203Ser LP/P rs121908166 Frontonasal dysplasia 1 (FND1) [MIM:136760] ALX4 Q9H161 VAR_010783 p.Arg35Thr LB/B rs3824915 - ALX4 Q9H161 VAR_010784 p.Pro102Ser LB/B rs12421995 - ALX4 Q9H161 VAR_010785 p.Arg218Gln LP/P rs104894193 Parietal foramina 2 (PFM2) [MIM:609597] ALX4 Q9H161 VAR_010897 p.Arg272Pro LP/P rs104894196 Parietal foramina 2 (PFM2) [MIM:609597] ALX4 Q9H161 VAR_058413 p.Arg257Thr LB/B rs3824915 - ALX4 Q9H161 VAR_069279 p.Val7Phe LB/B rs281865153 - ALX4 Q9H161 VAR_069280 p.Lys211Glu LB/B rs281865154 - ALX4 Q9H161 VAR_069281 p.Pro306Leu LB/B rs149897209 - AMACR Q9UHK6 VAR_010660 p.Val9Met LB/B rs3195676 - AMACR Q9UHK6 VAR_010661 p.Ser52Pro LP/P rs121917814 Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:614307] AMACR Q9UHK6 VAR_010661 p.Ser52Pro LP/P rs121917814 Congenital bile acid synthesis defect 4 (CBAS4) [MIM:214950] AMACR Q9UHK6 VAR_010662 p.Gly175Asp LB/B rs10941112 - AMACR Q9UHK6 VAR_010663 p.Leu201Ser LB/B rs2287939 - AMACR Q9UHK6 VAR_010664 p.Glu277Lys LB/B rs2278008 - AMACR Q9UHK6 VAR_010665 p.Leu107Pro LP/P rs121917816 Congenital bile acid synthesis defect 4 (CBAS4) [MIM:214950] AMACR Q9UHK6 VAR_055616 p.Arg118Gln LB/B rs16892150 - AMACR Q9UHK6 VAR_055617 p.Pro238Ser LB/B rs9282594 - AMACR Q9UHK6 VAR_055618 p.Gln239His LB/B rs34677 - AMACR Q9UHK6 VAR_055619 p.Met261Ile LB/B rs9282593 - AMACR Q9UHK6 VAR_055620 p.Met261Thr LB/B rs3195678 - AMBN Q9NP70 VAR_014066 p.Met11Thr US - - AMBN Q9NP70 VAR_014067 p.Leu354Pro LB/B rs72654387 - AMBN Q9NP70 VAR_014069 p.His439Arg LB/B rs375426598 - AMBN Q9NP70 VAR_048225 p.Ala255Val LB/B rs7439186 - AMBRA1 Q9C0C7 VAR_085051 p.Thr80Met US - - AMBRA1 Q9C0C7 VAR_085052 p.Leu364Phe US - - AMBRA1 Q9C0C7 VAR_085053 p.Ser833Phe US - - AMBRA1 Q9C0C7 VAR_085054 p.Met974Val US - - AMBRA1 Q9C0C7 VAR_085055 p.Ser1043Phe US - - AMDHD1 Q96NU7 VAR_031419 p.Ser3Gly LB/B rs7955450 - AMDHD1 Q96NU7 VAR_031420 p.Pro360His LB/B rs17024904 - AMDHD2 Q9Y303 VAR_038301 p.Asp294Asn US rs1220386463 A colorectal cancer sample AMELX Q99217 VAR_037581 p.Trp4Ser LP/P rs104894738 Amelogenesis imperfecta 1E (AI1E) [MIM:301200] AMELX Q99217 VAR_037582 p.Thr37Ile LP/P rs104894733 Amelogenesis imperfecta 1E (AI1E) [MIM:301200] AMELX Q99217 VAR_037583 p.Pro56Thr LP/P rs104894736 Amelogenesis imperfecta 1E (AI1E) [MIM:301200] AMER1 Q5JTC6 VAR_031304 p.Lys292Asn LB/B rs138948924 - AMER1 Q5JTC6 VAR_053870 p.Phe159Leu LB/B rs34677493 - AMER1 Q5JTC6 VAR_053871 p.Ala278Ser LB/B rs35718712 - AMER1 Q5JTC6 VAR_076268 p.Arg178Cys LB/B rs376626895 - AMER2 Q8N7J2 VAR_031303 p.Ile659Met LB/B rs2282406 - AMER2 Q8N7J2 VAR_036448 p.Ala457Thr US - A colorectal cancer sample AMER3 Q8N944 VAR_039218 p.Ser340Pro LB/B rs1905235 - AMFR Q9UKV5 VAR_035790 p.Asp605Val US rs373191257 A breast cancer sample AMH P03971 VAR_007483 p.Val12Gly LP/P rs149082963 Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] AMH P03971 VAR_007484 p.Ser49Ile LB/B rs10407022 - AMH P03971 VAR_007485 p.Leu70Pro LP/P - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] AMH P03971 VAR_007486 p.Gly101Val LP/P - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] AMH P03971 VAR_007487 p.Arg123Trp LP/P rs569914235 Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] AMH P03971 VAR_007488 p.Tyr167Cys LP/P rs371874189 Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] AMH P03971 VAR_007489 p.Gln185Glu LB/B rs200523942 - AMH P03971 VAR_007490 p.Arg194Cys LP/P rs777003373 Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] AMH P03971 VAR_007491 p.Gln325Arg LB/B rs140765565 - AMH P03971 VAR_007492 p.Val477Ala LP/P rs1358787117 Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] AMH P03971 VAR_031027 p.His506Gln LP/P rs138571039 Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] AMH P03971 VAR_031028 p.Cys525Tyr LP/P - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] AMH P03971 VAR_065100 p.Val515Ala LB/B rs10417628 - AMHR2 Q16671 VAR_015525 p.Arg54Cys LP/P rs534999427 Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015526 p.Gly142Val LP/P - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015527 p.His282Gln LP/P rs539695176 Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015528 p.Arg406Gln LP/P rs137853104 Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015529 p.Asp426Gly LP/P - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015530 p.Val458Ala LP/P rs775889926 Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015531 p.Asp491His LP/P rs780680518 Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015532 p.Arg504Cys LP/P rs772294564 Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_069048 p.Arg319His LB/B rs144236183 - AMMECR1 Q9Y4X0 VAR_078027 p.Gly177Asp LP/P rs1057519337 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) [MIM:300990] AMN Q9BXJ7 VAR_015733 p.Thr41Ile LP/P rs119478058 Imerslund-Grasbeck syndrome 2 (IGS2) [MIM:618882] AMN Q9BXJ7 VAR_081906 p.Met69Lys LP/P rs375774640 Imerslund-Grasbeck syndrome 2 (IGS2) [MIM:618882] AMN Q9BXJ7 VAR_081907 p.Cys234Phe LP/P rs386834176 Imerslund-Grasbeck syndrome 2 (IGS2) [MIM:618882] AMOTL1 Q8IY63 VAR_033498 p.Pro847Leu LB/B rs11020968 - AMOTL2 Q9Y2J4 VAR_023535 p.Glu731Asp LB/B rs1353776 - AMOTL2 Q9Y2J4 VAR_055497 p.Thr227Ile LB/B rs35377537 - AMOTL2 Q9Y2J4 VAR_055498 p.Ala342Pro LB/B rs2303635 - AMOTL2 Q9Y2J4 VAR_055499 p.Gly415Ser LB/B rs2241559 - AMPD1 P23109 VAR_013270 p.Pro48Leu LB/B rs61752479 - AMPD1 P23109 VAR_013271 p.Arg388Trp LP/P rs35859650 Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511] AMPD1 P23109 VAR_013272 p.Arg425His LP/P rs121912682 Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511] AMPD1 P23109 VAR_035801 p.Pro633His US - A colorectal cancer sample AMPD1 P23109 VAR_048860 p.Glu22Lys LB/B rs2273268 - AMPD2 Q01433 VAR_069105 p.Ile468Val LB/B rs201254826 - AMPD2 Q01433 VAR_071158 p.Arg620His LP/P rs587777395 Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809] AMPD2 Q01433 VAR_071159 p.Asp739Tyr LP/P rs587777394 Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809] AMPD2 Q01433 VAR_071193 p.Glu724Asp LP/P rs587777392 Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809] AMPD3 Q01432 VAR_009881 p.Arg573Cys LP/P rs3741040 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_033499 p.Arg185Trp LB/B rs11042836 - AMPD3 Q01432 VAR_042606 p.Asn310Lys LP/P - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042607 p.Val311Leu LP/P rs117706710 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042608 p.Ala320Val LP/P rs147542803 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042609 p.Met324Thr LP/P rs750004231 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042610 p.Arg331Cys LP/P rs758038726 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042611 p.Arg402Cys LP/P rs766280048 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042612 p.Trp450Arg LP/P rs1273151844 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042613 p.Tyr455His LB/B rs36003153 - AMPD3 Q01432 VAR_042614 p.Pro585Leu LP/P rs748852415 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042615 p.Gln712Pro LP/P - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPH P49418 VAR_053004 p.Lys218Glu LB/B rs35166354 - AMPH P49418 VAR_053005 p.Met376Ile LB/B rs17171345 - AMPH P49418 VAR_053006 p.Lys496Thr LB/B rs35024632 - AMT P48728 VAR_007951 p.His42Arg LP/P rs121964983 Glycine encephalopathy 2 (GCE2) [MIM:620398] AMT P48728 VAR_007952 p.Gly47Arg LP/P rs121964982 Glycine encephalopathy 2 (GCE2) [MIM:620398] AMT P48728 VAR_007953 p.Gly269Asp LP/P rs121964981 Glycine encephalopathy 2 (GCE2) [MIM:620398] AMT P48728 VAR_007954 p.Asp276His LP/P rs121964984 Glycine encephalopathy 2 (GCE2) [MIM:620398] AMT P48728 VAR_007955 p.Arg320His LP/P rs121964985 Glycine encephalopathy 2 (GCE2) [MIM:620398] AMT P48728 VAR_016847 p.Asn145Ile LP/P rs386833682 Glycine encephalopathy 2 (GCE2) [MIM:620398] AMT P48728 VAR_016848 p.Glu211Lys LP/P rs116192290 Glycine encephalopathy 2 (GCE2) [MIM:620398] AMT P48728 VAR_074107 p.Arg265Cys LP/P rs779483959 Glycine encephalopathy 2 (GCE2) [MIM:620398] AMT P48728 VAR_078794 p.Arg94Trp LP/P rs1126422 Glycine encephalopathy 2 (GCE2) [MIM:620398] AMT P48728 VAR_078795 p.Arg222Cys LP/P rs781466698 Glycine encephalopathy 2 (GCE2) [MIM:620398] AMT P48728 VAR_078796 p.Arg296Cys LP/P rs1056820947 Glycine encephalopathy 2 (GCE2) [MIM:620398] AMTN Q6UX39 VAR_035791 p.Gly78Ser US rs151041998 A colorectal cancer sample AMTN Q6UX39 VAR_050661 p.Asn45Ser LB/B rs7660807 - AMTN Q6UX39 VAR_050662 p.Ser50Pro LB/B rs34803339 - AMZ1 Q400G9 VAR_024849 p.Arg491His LB/B rs7776970 - AMZ2 Q86W34 VAR_024850 p.Asn30Asp LB/B rs3213690 - AMZ2 Q86W34 VAR_047343 p.His146Gln LB/B rs3207194 - ANAPC10 Q9UM13 VAR_025200 p.Arg46Gln LB/B rs35257136 - ANAPC4 Q9UJX5 VAR_035792 p.Ile155Val US - A colorectal cancer sample ANAPC4 Q9UJX5 VAR_054044 p.Arg465Gln LB/B rs34811474 - ANAPC4 Q9UJX5 VAR_054045 p.Glu800Gly LB/B rs11550697 - ANAPC5 Q9UJX4 VAR_035793 p.Gln617His US - A breast cancer sample ANG P03950 VAR_013148 p.Lys84Glu LB/B rs17560 - ANG P03950 VAR_044145 p.Phe12Ser LP/P - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044146 p.Pro20Ser LP/P - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044147 p.Gln36Leu LP/P rs121909535 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044148 p.Lys41Glu LP/P rs121909537 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044149 p.Lys41Ile LP/P rs121909536 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044150 p.Ser52Asn LP/P rs121909542 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044151 p.Arg55Lys LP/P rs121909538 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044152 p.Cys63Trp LP/P rs121909539 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044153 p.Lys64Ile LP/P rs121909540 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044154 p.Ile70Val US rs121909541 - ANG P03950 VAR_044155 p.Pro136Leu LP/P rs121909543 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044156 p.Val137Ile LP/P rs121909544 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044157 p.His138Arg LP/P - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_073021 p.Tyr38His LP/P rs1032422334 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_073022 p.Asp46Gly LP/P rs1440927797 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANGEL1 Q9UNK9 VAR_056239 p.Gly141Trp LB/B rs34270005 - ANGEL1 Q9UNK9 VAR_056240 p.Phe515Cys LB/B rs2075773 - ANGEL1 Q9UNK9 VAR_061374 p.Val383Leu LB/B rs45499197 - ANGEL2 Q5VTE6 VAR_050290 p.Pro97Ser LB/B rs11542154 - ANGPT1 Q15389 VAR_069165 p.Leu247Pro LB/B rs73701083 - ANGPT1 Q15389 VAR_085814 p.Ala119Ser LP/P rs764987358 Angioedema, hereditary, 5 (HAE5) [MIM:619361] ANGPT1 Q15389 VAR_085815 p.Arg225Cys US rs777414772 Angioedema, hereditary, 5 (HAE5) [MIM:619361] ANGPT1 Q15389 VAR_085816 p.Arg494Gln US rs377442517 Angioedema, hereditary, 5 (HAE5) [MIM:619361] ANGPT2 O15123 VAR_049069 p.Val333Ile LB/B rs7813215 - ANGPT2 O15123 VAR_085861 p.Thr299Met US rs61733318 Lymphatic malformation 10 (LMPHM10) [MIM:619369] ANGPT2 O15123 VAR_085862 p.Asn304Lys US rs767462360 Lymphatic malformation 10 (LMPHM10) [MIM:619369] ANGPT2 O15123 VAR_085863 p.Cys435Ser LP/P - Lymphatic malformation 10 (LMPHM10) [MIM:619369] ANGPT2 O15123 VAR_085864 p.Arg492Gln US - Lymphatic malformation 10 (LMPHM10) [MIM:619369] ANGPT4 Q9Y264 VAR_049070 p.Glu395Lys LB/B rs869171 - ANGPTL3 Q9Y5C1 VAR_049071 p.Asn418Tyr LB/B rs4145257 - ANGPTL3 Q9Y5C1 VAR_067283 p.Leu127Phe LB/B rs72649573 - ANGPTL3 Q9Y5C1 VAR_075670 p.Lys63Thr LB/B rs146749211 - ANGPTL3 Q9Y5C1 VAR_075671 p.Glu91Gly LB/B rs139334976 - ANGPTL3 Q9Y5C1 VAR_075672 p.Leu164Phe LB/B rs775976787 - ANGPTL3 Q9Y5C1 VAR_075673 p.Asn173Ser LB/B rs149624466 - ANGPTL3 Q9Y5C1 VAR_075674 p.Met259Thr LB/B rs77871363 - ANGPTL3 Q9Y5C1 VAR_075675 p.Arg288Gln LB/B rs763904695 - ANGPTL3 Q9Y5C1 VAR_075677 p.Ser292Pro LB/B rs138899888 - ANGPTL3 Q9Y5C1 VAR_075678 p.Tyr344Ser LB/B rs1334979946 - ANGPTL3 Q9Y5C1 VAR_075679 p.Glu375Lys LB/B rs768802285 - ANGPTL3 Q9Y5C1 VAR_075680 p.Tyr417Cys LB/B rs376210525 - ANGPTL4 Q9BY76 VAR_020428 p.Thr266Met LB/B rs1044250 - ANGPTL4 Q9BY76 VAR_032642 p.Pro5Leu LB/B rs761583091 - ANGPTL4 Q9BY76 VAR_032643 p.Glu40Lys LB/B rs116843064 - ANGPTL4 Q9BY76 VAR_032644 p.Met41Ile LB/B rs186754194 - ANGPTL4 Q9BY76 VAR_032645 p.Ser67Arg LB/B rs538554190 - ANGPTL4 Q9BY76 VAR_032646 p.Arg72Leu LB/B rs141831018 - ANGPTL4 Q9BY76 VAR_032647 p.Gly77Arg LB/B rs568624939 - ANGPTL4 Q9BY76 VAR_032648 p.Glu167Lys LB/B rs140640857 - ANGPTL4 Q9BY76 VAR_032649 p.Pro174Ser LB/B rs1008363865 - ANGPTL4 Q9BY76 VAR_032650 p.Glu190Gln LB/B rs77938377 - ANGPTL4 Q9BY76 VAR_032651 p.Glu196Lys LB/B rs1192364228 - ANGPTL4 Q9BY76 VAR_032652 p.Arg230Cys LB/B rs201026877 - ANGPTL4 Q9BY76 VAR_032653 p.Gly233Arg LB/B - - ANGPTL4 Q9BY76 VAR_032654 p.Phe237Val LB/B rs768374046 - ANGPTL4 Q9BY76 VAR_032655 p.Pro251Thr LB/B rs376328756 - ANGPTL4 Q9BY76 VAR_032656 p.Arg278Gln LB/B rs35061979 - ANGPTL4 Q9BY76 VAR_032657 p.Val291Met LB/B rs150000287 - ANGPTL4 Q9BY76 VAR_032658 p.Leu293Met LB/B rs775667046 - ANGPTL4 Q9BY76 VAR_032659 p.Glu296Val LB/B - - ANGPTL4 Q9BY76 VAR_032660 p.Pro307Ser LB/B rs751249880 - ANGPTL4 Q9BY76 VAR_032661 p.Val308Met LB/B rs139998264 - ANGPTL4 Q9BY76 VAR_032662 p.Arg336Cys LB/B rs140744493 - ANGPTL4 Q9BY76 VAR_032663 p.Asp338Glu LB/B rs780121474 - ANGPTL4 Q9BY76 VAR_032664 p.Trp349Cys LB/B rs1033145581 - ANGPTL4 Q9BY76 VAR_032665 p.Gly361Arg LB/B rs755737249 - ANGPTL4 Q9BY76 VAR_032666 p.Gly361Ser LB/B rs755737249 - ANGPTL4 Q9BY76 VAR_032667 p.Arg371Gln LB/B rs779488814 - ANGPTL4 Q9BY76 VAR_032668 p.Arg384Trp LB/B rs146942305 - ANGPTL5 Q86XS5 VAR_055803 p.Ser175Pro LB/B rs7946238 - ANGPTL7 O43827 VAR_025075 p.Glu51Asp LB/B rs28990992 - ANGPTL7 O43827 VAR_025076 p.Arg140His LB/B rs28991002 - ANGPTL7 O43827 VAR_025077 p.Gln175His LB/B rs28991009 - ANGPTL8 Q6UXH0 VAR_039046 p.Arg59Trp LB/B rs2278426 - ANGPTL8 Q6UXH0 VAR_039047 p.Arg147Gln LB/B rs34056604 - ANK1 P16157 VAR_000595 p.Arg21Thr LB/B - - ANK1 P16157 VAR_000596 p.Val463Ile LP/P rs140085544 Spherocytosis 1 (SPH1) [MIM:182900] ANK1 P16157 VAR_000597 p.Arg619His LB/B rs2304877 - ANK1 P16157 VAR_000598 p.Val750Ala LB/B - - ANK1 P16157 VAR_000599 p.Asp845Glu LB/B - - ANK1 P16157 VAR_000600 p.Ser1392Thr LB/B - - ANK1 P16157 VAR_000601 p.Glu1286Asp LB/B - - ANK1 P16157 VAR_000602 p.Asp1592Asn LB/B rs1457291305 - ANK1 P16157 VAR_026411 p.Val991Leu LB/B rs758454168 - ANK1 P16157 VAR_028769 p.Leu733Ile LB/B rs11778936 - ANK1 P16157 VAR_028770 p.Ala1126Pro LB/B rs504465 - ANK1 P16157 VAR_028771 p.Thr1192Pro LB/B rs486770 - ANK1 P16157 VAR_028772 p.Met1325Val LB/B rs10093583 - ANK1 P16157 VAR_028773 p.Val1546Ile LB/B rs1060130 - ANK1 P16157 VAR_035605 p.Asp332His US - A breast cancer sample ANK1 P16157 VAR_048263 p.Thr1075Ile LB/B rs35213384 - ANK1 P16157 VAR_054991 p.Leu276Arg LP/P - Spherocytosis 1 (SPH1) [MIM:182900] ANK1 P16157 VAR_054992 p.Ile1054Thr LP/P - Spherocytosis 1 (SPH1) [MIM:182900] ANK1 P16157 VAR_061012 p.Arg832Gln LB/B rs34523608 - ANK2 Q01484 VAR_022934 p.Glu1458Gly US rs72544141 Long QT syndrome 4 (LQT4) [MIM:600919] ANK2 Q01484 VAR_022935 p.Leu3740Ile LP/P rs35530544 Long QT syndrome 4 (LQT4) [MIM:600919] ANK2 Q01484 VAR_022936 p.Thr3744Asn LP/P rs121912705 Long QT syndrome 4 (LQT4) [MIM:600919] ANK2 Q01484 VAR_022937 p.Arg3906Trp LP/P rs121912706 Long QT syndrome 4 (LQT4) [MIM:600919] ANK2 Q01484 VAR_022938 p.Glu3931Lys LP/P rs45454496 Long QT syndrome 4 (LQT4) [MIM:600919] ANK2 Q01484 VAR_035606 p.Gly685Glu US - A breast cancer sample ANK2 Q01484 VAR_035607 p.Gly1267Arg US - A colorectal cancer sample ANK2 Q01484 VAR_035608 p.Thr3653Lys US - A colorectal cancer sample ANK2 Q01484 VAR_055504 p.Asn687Ser LB/B rs29372 - ANK2 Q01484 VAR_055505 p.Val2369Ala LB/B rs28377576 - ANK2 Q01484 VAR_081135 p.Val1555Asp LB/B - - ANK3 Q12955 VAR_054333 p.Ile4257Val LB/B rs12261793 - ANK3 Q12955 VAR_059115 p.His2885Gln LB/B rs11599164 - ANK3 Q12955 VAR_059116 p.Ile3117Val LB/B rs28932171 - ANK3 Q12955 VAR_059117 p.Lys3123Arg LB/B rs10821668 - ANK3 Q12955 VAR_061013 p.Lys2318Arg LB/B rs59021407 - ANK3 Q12955 VAR_061014 p.Gln2996His LB/B rs41274672 - ANK3 Q12955 VAR_068702 p.Ser1569Ala US rs375050420 - ANK3 Q12955 VAR_068703 p.Thr3720Met US rs201547988 - ANK3 Q12955 VAR_068704 p.Thr4255Pro US rs769573528 - ANK3 Q12955 VAR_077912 p.Asp968His US rs730882195 - ANKAR Q7Z5J8 VAR_032164 p.Ile675Val LB/B rs16831887 - ANKAR Q7Z5J8 VAR_032165 p.Leu1077Phe LB/B rs1225090 - ANKDD1A Q495B1 VAR_032358 p.Lys355Glu LB/B rs34988193 - ANKEF1 Q9NU02 VAR_024172 p.Leu324Gln LB/B rs652633 - ANKEF1 Q9NU02 VAR_033500 p.Pro74Thr LB/B rs7260784 - ANKEF1 Q9NU02 VAR_033501 p.Gly412Glu LB/B rs524625 - ANKEF1 Q9NU02 VAR_033502 p.Arg742Gln LB/B rs6087119 - ANKEF1 Q9NU02 VAR_035609 p.Lys694Asn US - A breast cancer sample ANKFN1 Q8N957 VAR_060725 p.Val442Ile LB/B rs10852985 - ANKH Q9HCJ1 VAR_012192 p.Trp292Arg LP/P - Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000] ANKH Q9HCJ1 VAR_012193 p.Cys331Arg LP/P - Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000] ANKH Q9HCJ1 VAR_012198 p.Gly389Arg LP/P rs28939080 Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000] ANKH Q9HCJ1 VAR_017556 p.Met48Thr LP/P rs121908407 Chondrocalcinosis 2 (CCAL2) [MIM:118600] ANKH Q9HCJ1 VAR_022606 p.Pro5Leu LP/P rs121908409 Chondrocalcinosis 2 (CCAL2) [MIM:118600] ANKH Q9HCJ1 VAR_022607 p.Pro5Thr LP/P rs121908410 Chondrocalcinosis 2 (CCAL2) [MIM:118600] ANKH Q9HCJ1 VAR_088435 p.Leu244Ser US - - ANKHD1 Q8IWZ3 VAR_035291 p.Leu175Met LB/B rs17850570 - ANKHD1 Q8IWZ3 VAR_035292 p.Gly228Cys LB/B rs17850572 - ANKHD1 Q8IWZ3 VAR_035293 p.Asn1760Ser LB/B rs3752704 - ANKHD1 Q8IWZ3 VAR_048281 p.Gly1586Ser LB/B rs1051309 - ANKIB1 Q9P2G1 VAR_030862 p.Leu1016Met LB/B rs38794 - ANKK1 Q8NFD2 VAR_025010 p.Glu713Lys LB/B rs1800497 - ANKK1 Q8NFD2 VAR_036784 p.Ala239Thr LB/B rs7118900 - ANKK1 Q8NFD2 VAR_036785 p.Gly318Arg LB/B rs11604671 - ANKK1 Q8NFD2 VAR_036786 p.Gly442Arg LB/B rs4938016 - ANKK1 Q8NFD2 VAR_036787 p.His490Arg LB/B rs2734849 - ANKK1 Q8NFD2 VAR_040359 p.Asp4Tyr LB/B rs35657708 - ANKK1 Q8NFD2 VAR_040360 p.Arg122His LB/B rs35877321 - ANKK1 Q8NFD2 VAR_040361 p.Pro276Leu LB/B rs35488601 - ANKK1 Q8NFD2 VAR_040362 p.Lys347Thr US - A breast infiltrating ductal carcinoma sample ANKK1 Q8NFD2 VAR_040363 p.Leu366Phe LB/B rs56339158 - ANKK1 Q8NFD2 VAR_040364 p.His367Gln LB/B rs34298987 - ANKK1 Q8NFD2 VAR_040365 p.Glu376Lys LB/B rs56299709 - ANKK1 Q8NFD2 VAR_040366 p.Glu426Lys LB/B rs55699907 - ANKK1 Q8NFD2 VAR_040367 p.Gly451Arg LB/B rs34983219 - ANKK1 Q8NFD2 VAR_040368 p.Thr595Ile LB/B rs55787008 - ANKK1 Q8NFD2 VAR_040369 p.Pro596Leu LB/B rs7104979 - ANKK1 Q8NFD2 VAR_040370 p.Asn653Ser LB/B rs55849504 - ANKK1 Q8NFD2 VAR_040371 p.Ser670Gly LB/B rs56006094 - ANKK1 Q8NFD2 VAR_040372 p.Gln717Leu US - A lung large cell carcinoma sample ANKK1 Q8NFD2 VAR_040373 p.Arg736Leu US - A lung squamous cell carcinoma sample ANKK1 Q8NFD2 VAR_040374 p.Glu764Lys US - A lung neuroendocrine carcinoma sample ANKLE1 Q8NAG6 VAR_033507 p.Leu94Gln LB/B rs8108174 - ANKLE1 Q8NAG6 VAR_033508 p.Leu184Trp LB/B rs2363956 - ANKLE1 Q8NAG6 VAR_033509 p.Thr311Pro LB/B rs891017 - ANKLE1 Q8NAG6 VAR_033510 p.Gln435Arg LB/B rs11086065 - ANKLE1 Q8NAG6 VAR_033511 p.Val447Met LB/B rs34112069 - ANKLE1 Q8NAG6 VAR_061015 p.Pro160Ser LB/B rs59119993 - ANKLE1 Q8NAG6 VAR_063681 p.Ala31Thr LB/B rs8100241 - ANKLE1 Q8NAG6 VAR_063682 p.Ala71Val LB/B rs1864116 - ANKLE2 Q86XL3 VAR_031097 p.His122Tyr LB/B rs1132375 - ANKLE2 Q86XL3 VAR_031098 p.Gln148Glu LB/B rs7968520 - ANKLE2 Q86XL3 VAR_031099 p.Arg720His LB/B rs10781634 - ANKLE2 Q86XL3 VAR_076205 p.Leu573Val US rs863225465 Microcephaly 16, primary, autosomal recessive (MCPH16) [MIM:616681] ANKLE2 Q86XL3 VAR_083604 p.Ala8Val US rs986142623 Microcephaly 16, primary, autosomal recessive (MCPH16) [MIM:616681] ANKLE2 Q86XL3 VAR_083605 p.Ala27Gly US - Microcephaly 16, primary, autosomal recessive (MCPH16) [MIM:616681] ANKLE2 Q86XL3 VAR_083606 p.Ala109Pro LP/P - Microcephaly 16, primary, autosomal recessive (MCPH16) [MIM:616681] ANKLE2 Q86XL3 VAR_083607 p.Gly201Trp LP/P rs1185537869 Microcephaly 16, primary, autosomal recessive (MCPH16) [MIM:616681] ANKLE2 Q86XL3 VAR_083608 p.Val229Gly US - Microcephaly 16, primary, autosomal recessive (MCPH16) [MIM:616681] ANKLE2 Q86XL3 VAR_083610 p.Arg536Cys US rs761627940 Microcephaly 16, primary, autosomal recessive (MCPH16) [MIM:616681] ANKLE2 Q86XL3 VAR_083611 p.Gly585Val US - Microcephaly 16, primary, autosomal recessive (MCPH16) [MIM:616681] ANKMY1 Q9P2S6 VAR_048264 p.Asp89Asn LB/B rs35278753 - ANKMY1 Q9P2S6 VAR_048265 p.Ile424Met LB/B rs35996697 - ANKMY1 Q9P2S6 VAR_048266 p.Asp451Val LB/B rs3796118 - ANKMY1 Q9P2S6 VAR_048267 p.Val472Leu LB/B rs3821348 - ANKMY1 Q9P2S6 VAR_048268 p.Thr649Met LB/B rs35044862 - ANKRD1 Q15327 VAR_047112 p.Thr116Met US rs142354133 - ANKRD10 Q9NXR5 VAR_020095 p.Pro320Leu LB/B rs3742185 - ANKRD11 Q6UB99 VAR_075870 p.Arg2512Gln US - KBG syndrome (KBGS) [MIM:148050] ANKRD12 Q6UB98 VAR_019425 p.Ser171Thr LB/B - - ANKRD12 Q6UB98 VAR_022088 p.Ser818Asn LB/B rs2298546 - ANKRD12 Q6UB98 VAR_024173 p.Lys906Arg LB/B rs4798791 - ANKRD12 Q6UB98 VAR_026042 p.Pro277Ala LB/B rs2298548 - ANKRD12 Q6UB98 VAR_048271 p.Glu390Asp LB/B rs35101529 - ANKRD12 Q6UB98 VAR_048272 p.Thr507Ile LB/B rs17498752 - ANKRD12 Q6UB98 VAR_048273 p.Thr531Ser LB/B rs7243088 - ANKRD12 Q6UB98 VAR_048274 p.Leu998Ser LB/B rs34996750 - ANKRD12 Q6UB98 VAR_048275 p.Ser1758Pro LB/B rs3744822 - ANKRD12 Q6UB98 VAR_081528 p.Ser307Cys US - - ANKRD13A Q8IZ07 VAR_048276 p.Leu505Pro LB/B rs2287174 - ANKRD13C Q8N6S4 VAR_026825 p.Thr413Ser LB/B rs17852616 - ANKRD16 Q6P6B7 VAR_026832 p.Gln353Arg LB/B rs1052420 - ANKRD16 Q6P6B7 VAR_033503 p.Ala128Gly LB/B rs2296136 - ANKRD17 O75179 VAR_036711 p.His2560Tyr LB/B rs2306059 - ANKRD17 O75179 VAR_086093 p.Gly278Val LP/P rs963581326 Chopra-Amiel-Gordon syndrome (CAGS) [MIM:619504] ANKRD17 O75179 VAR_086094 p.Ala377Thr LP/P - Chopra-Amiel-Gordon syndrome (CAGS) [MIM:619504] ANKRD17 O75179 VAR_086095 p.Leu519Pro LP/P - Chopra-Amiel-Gordon syndrome (CAGS) [MIM:619504] ANKRD17 O75179 VAR_086096 p.Leu716Arg LP/P - Chopra-Amiel-Gordon syndrome (CAGS) [MIM:619504] ANKRD17 O75179 VAR_086100 p.Leu1120Arg LP/P - Chopra-Amiel-Gordon syndrome (CAGS) [MIM:619504] ANKRD17 O75179 VAR_086101 p.Pro1186Arg LP/P - Chopra-Amiel-Gordon syndrome (CAGS) [MIM:619504] ANKRD17 O75179 VAR_086102 p.Gly1364Ala LP/P - Chopra-Amiel-Gordon syndrome (CAGS) [MIM:619504] ANKRD17 O75179 VAR_086104 p.Ser1880Pro LP/P - Chopra-Amiel-Gordon syndrome (CAGS) [MIM:619504] ANKRD17 O75179 VAR_086105 p.Arg2434Gly LP/P - Chopra-Amiel-Gordon syndrome (CAGS) [MIM:619504] ANKRD18A Q8IVF6 VAR_055507 p.Glu130Lys LB/B rs1832313 - ANKRD18A Q8IVF6 VAR_055508 p.Ala277Glu LB/B rs632200 - ANKRD18A Q8IVF6 VAR_055509 p.Asn484Ser LB/B rs2996347 - ANKRD18A Q8IVF6 VAR_055510 p.Tyr688Cys LB/B rs2799163 - ANKRD18A Q8IVF6 VAR_055511 p.Thr942Ile LB/B rs11999308 - ANKRD18A Q8IVF6 VAR_055512 p.Glu945Asp LB/B rs12341435 - ANKRD18A Q8IVF6 VAR_059118 p.Glu838Asp LB/B rs12341435 - ANKRD2 Q9GZV1 VAR_042498 p.Ala62Thr LB/B rs7094973 - ANKRD22 Q5VYY1 VAR_027628 p.Glu73Gly LB/B rs17113412 - ANKRD22 Q5VYY1 VAR_027629 p.Tyr79His LB/B rs17851907 - ANKRD22 Q5VYY1 VAR_027630 p.Gln148Pro LB/B rs2304804 - ANKRD22 Q5VYY1 VAR_027631 p.Arg177Ile LB/B rs7912706 - ANKRD24 Q8TF21 VAR_042536 p.Ala111Thr LB/B rs2052191 - ANKRD24 Q8TF21 VAR_042537 p.Arg349Gln LB/B rs12978469 - ANKRD24 Q8TF21 VAR_042538 p.Glu585Lys LB/B rs10413818 - ANKRD24 Q8TF21 VAR_042539 p.Ser684Ala LB/B rs353693 - ANKRD26 Q9UPS8 VAR_026833 p.Gln20Arg LB/B rs7897309 - ANKRD26 Q9UPS8 VAR_026834 p.Val1305Ile LB/B rs10829163 - ANKRD26 Q9UPS8 VAR_026835 p.Phe1514Leu LB/B rs2274741 - ANKRD26 Q9UPS8 VAR_055513 p.Ile425Val LB/B rs12359281 - ANKRD26 Q9UPS8 VAR_055514 p.Val1220Leu LB/B rs12572862 - ANKRD26P1 Q6NSI1 VAR_040003 p.Lys265Thr LB/B rs1436436 - ANKRD27 Q96NW4 VAR_030317 p.Ser657Gly LB/B rs2287669 - ANKRD27 Q96NW4 VAR_030318 p.Pro761Arg LB/B rs2302970 - ANKRD29 Q8N6D5 VAR_026869 p.Gly112Glu LB/B rs17855552 - ANKRD29 Q8N6D5 VAR_035610 p.Val95Met US rs767831283 A breast cancer sample ANKRD30A Q9BXX3 VAR_033504 p.Thr611Ala LB/B rs16937417 - ANKRD30A Q9BXX3 VAR_033505 p.Lys917Asn LB/B rs1209750 - ANKRD30A Q9BXX3 VAR_035611 p.Gln227Glu US - A breast cancer sample ANKRD30A Q9BXX3 VAR_055515 p.Arg985Cys LB/B rs1200875 - ANKRD30B Q9BXX2 VAR_042540 p.Val375Met LB/B rs9748611 - ANKRD30B Q9BXX2 VAR_042541 p.Phe477Leu LB/B rs9675365 - ANKRD31 Q8N7Z5 VAR_042542 p.Asp702Asn LB/B rs1422698 - ANKRD31 Q8N7Z5 VAR_042543 p.Arg758Gly LB/B rs6893216 - ANKRD31 Q8N7Z5 VAR_042544 p.Asp1609Glu LB/B rs961098 - ANKRD31 Q8N7Z5 VAR_042545 p.Arg1777Lys LB/B rs4489037 - ANKRD33 Q7Z3H0 VAR_059121 p.Tyr140Phe LB/B rs697636 - ANKRD33 Q7Z3H0 VAR_059122 p.Gln257Arg LB/B rs34494292 - ANKRD33 Q7Z3H0 VAR_059123 p.Thr313Asn LB/B rs12368048 - ANKRD34B A5PLL1 VAR_038952 p.Leu156Ser LB/B rs32857 - ANKRD34C P0C6C1 VAR_038953 p.Pro369Arg LB/B rs410400 - ANKRD34C P0C6C1 VAR_038954 p.Pro427His LB/B rs449340 - ANKRD34C P0C6C1 VAR_038955 p.Leu442Ile LB/B rs422777 - ANKRD35 Q8N283 VAR_026870 p.Pro428Ser LB/B rs6670984 - ANKRD35 Q8N283 VAR_033506 p.Asn978Asp LB/B rs16827032 - ANKRD35 Q8N283 VAR_048278 p.Asn53Lys LB/B rs6658371 - ANKRD35 Q8N283 VAR_061017 p.Gln592Arg LB/B rs41315701 - ANKRD35 Q8N283 VAR_087983 p.Gln661Glu LB/B rs11579366 - ANKRD36B Q8N2N9 VAR_057818 p.Glu496Asp LB/B rs13001728 - ANKRD36B Q8N2N9 VAR_060687 p.Glu483Gly LB/B rs1839230 - ANKRD36B Q8N2N9 VAR_060688 p.Ser534Ala LB/B rs6761299 - ANKRD37 Q7Z713 VAR_048279 p.Thr152Ser LB/B rs4317244 - ANKRD39 Q53RE8 VAR_026905 p.Ala113Thr LB/B rs17852947 - ANKRD42 Q8N9B4 VAR_028366 p.Asn198Asp LB/B rs17515016 - ANKRD53 Q8N9V6 VAR_030300 p.Leu153Ile LB/B rs17853403 - ANKRD53 Q8N9V6 VAR_054427 p.Met243Thr LB/B rs36123544 - ANKRD53 Q8N9V6 VAR_061018 p.Ala105Gly LB/B rs35096506 - ANKRD53 Q8N9V6 VAR_067464 p.Arg349Leu LB/B rs11688921 - ANKRD53 Q8N9V6 VAR_067465 p.His431Leu LB/B rs3796100 - ANKRD55 Q3KP44 VAR_030283 p.Val345Met LB/B rs321776 - ANKRD55 Q3KP44 VAR_055516 p.Arg594Gln LB/B rs34879141 - ANKRD6 Q9Y2G4 VAR_039114 p.Gln122Glu LB/B rs16881983 - ANKRD6 Q9Y2G4 VAR_039115 p.Ile128Val LB/B rs3748085 - ANKRD6 Q9Y2G4 VAR_039116 p.Thr233Met LB/B rs2273238 - ANKRD6 Q9Y2G4 VAR_039117 p.Thr545Ala LB/B rs9362667 - ANKRD6 Q9Y2G4 VAR_055506 p.Ala550Thr LB/B rs9362667 - ANKRD60 Q9BZ19 VAR_014400 p.Arg295Cys LB/B rs584855 - ANKRD62 A6NC57 VAR_042527 p.Ala188Ser LB/B rs1986751 - ANKRD62 A6NC57 VAR_042528 p.Cys265Arg LB/B rs6505715 - ANKRD62 A6NC57 VAR_042529 p.Glu406Lys LB/B rs4519391 - ANKRD62 A6NC57 VAR_042530 p.Ala613Thr LB/B rs7243248 - ANKS1A Q92625 VAR_021168 p.Leu694Ser LB/B rs820085 - ANKS1A Q92625 VAR_048282 p.Ala355Asp LB/B rs6930932 - ANKS3 Q6ZW76 VAR_048283 p.Ala404Thr LB/B rs863980 - ANKS3 Q6ZW76 VAR_048284 p.Ala593Thr LB/B rs9936675 - ANKS6 Q68DC2 VAR_034794 p.Val644Ile LB/B rs6415847 - ANKS6 Q68DC2 VAR_070105 p.Arg222Trp LB/B rs41283630 - ANKS6 Q68DC2 VAR_070106 p.Ala312Pro LP/P rs1834431706 Nephronophthisis 16 (NPHP16) [MIM:615382] ANKS6 Q68DC2 VAR_070107 p.Arg440Gln LB/B rs763855876 - ANKS6 Q68DC2 VAR_070108 p.Gln441Arg LP/P rs377750405 Nephronophthisis 16 (NPHP16) [MIM:615382] ANKS6 Q68DC2 VAR_070109 p.Gly640Ser LB/B rs749102463 - ANKS6 Q68DC2 VAR_070110 p.Pro735Ala LB/B rs79414550 - ANKUB1 A6NFN9 VAR_045621 p.Arg217Trp LB/B rs7645720 - ANKUB1 A6NFN9 VAR_045622 p.Ile306Met LB/B rs3821406 - ANKUB1 A6NFN9 VAR_045623 p.Ser386Gly LB/B rs7610425 - ANKZF1 Q9H8Y5 VAR_048269 p.Arg569Trp LB/B rs2293076 - ANKZF1 Q9H8Y5 VAR_048270 p.Pro676Leu LB/B rs2293079 - ANKZF1 Q9H8Y5 VAR_079137 p.Glu152Lys US rs149382949 - ANKZF1 Q9H8Y5 VAR_079138 p.Arg585Gln US rs189875478 - ANKZF1 Q9H8Y5 VAR_079139 p.Gln638Pro LB/B - - ANLN Q9NQW6 VAR_025661 p.Ser65Trp LB/B rs3735400 - ANLN Q9NQW6 VAR_025662 p.Arg185Lys LB/B rs197367 - ANLN Q9NQW6 VAR_072418 p.Arg431Cys LP/P rs587777741 Focal segmental glomerulosclerosis 8 (FSGS8) [MIM:616032] ANLN Q9NQW6 VAR_072419 p.Gly618Cys LP/P rs1184529372 Focal segmental glomerulosclerosis 8 (FSGS8) [MIM:616032] ANO1 Q5XXA6 VAR_032417 p.Phe608Ser LB/B rs2186797 - ANO1 Q5XXA6 VAR_032418 p.Gly983Arg LB/B rs3740722 - ANO10 Q9NW15 VAR_032638 p.Arg462Gln LB/B rs3772165 - ANO10 Q9NW15 VAR_032639 p.Thr561Met LB/B rs17409162 - ANO10 Q9NW15 VAR_032640 p.Val583Ala LB/B rs17853862 - ANO10 Q9NW15 VAR_064888 p.Leu510Arg LP/P rs387907089 Spinocerebellar ataxia, autosomal recessive, 10 (SCAR10) [MIM:613728] ANO2 Q9NQ90 VAR_020331 p.Ser505Ala LB/B rs1860961 - ANO2 Q9NQ90 VAR_021932 p.Val112Ala LB/B rs3741903 - ANO2 Q9NQ90 VAR_057286 p.Pro147Ser LB/B rs3741901 - ANO2 Q9NQ90 VAR_061853 p.Met401Ile LB/B rs17788563 - ANO3 Q9BYT9 VAR_057287 p.Leu781Val LB/B rs11825056 - ANO3 Q9BYT9 VAR_069732 p.Trp490Cys LP/P rs1565132917 Dystonia 24 (DYT24) [MIM:615034] ANO3 Q9BYT9 VAR_069733 p.Arg494Trp LP/P rs587776922 Dystonia 24 (DYT24) [MIM:615034] ANO3 Q9BYT9 VAR_069734 p.Ser685Gly LP/P rs587776923 Dystonia 24 (DYT24) [MIM:615034] ANO3 Q9BYT9 VAR_069735 p.Lys862Asn LP/P rs1277790116 Dystonia 24 (DYT24) [MIM:615034] ANO4 Q32M45 VAR_032453 p.Gly115Ala LB/B rs34162417 - ANO5 Q75V66 VAR_023524 p.Cys356Gly LP/P rs119103234 Gnathodiaphyseal dysplasia (GDD) [MIM:166260] ANO5 Q75V66 VAR_023525 p.Cys356Arg LP/P rs119103234 Gnathodiaphyseal dysplasia (GDD) [MIM:166260] ANO5 Q75V66 VAR_052339 p.Leu322Phe LB/B rs7481951 - ANO5 Q75V66 VAR_052340 p.Asn882Lys LB/B rs34969327 - ANO5 Q75V66 VAR_063582 p.Gly231Val LP/P rs137854523 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_063583 p.Arg758Cys US rs137854529 Miyoshi muscular dystrophy 3 (MMD3) [MIM:613319] ANO5 Q75V66 VAR_063583 p.Arg758Cys US rs137854529 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_068247 p.Arg58Trp LP/P rs201725369 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_068248 p.Trp655Cys US rs760137559 Miyoshi muscular dystrophy 3 (MMD3) [MIM:613319] ANO5 Q75V66 VAR_076476 p.Cys356Tyr LP/P - Gnathodiaphyseal dysplasia (GDD) [MIM:166260] ANO5 Q75V66 VAR_076477 p.Thr513Ile US rs281865467 Gnathodiaphyseal dysplasia (GDD) [MIM:166260] ANO5 Q75V66 VAR_080271 p.Asn52Ser US rs143777403 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080272 p.Phe54Ser US rs886043577 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080273 p.Val87Ile US rs34994927 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080274 p.Asp93Glu US - Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080275 p.Tyr143Cys US - Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080276 p.Glu202Lys US rs115750596 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080277 p.Thr206Ala US rs78266558 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080278 p.Lys259Asn US - Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080279 p.Asn265Ser US rs377553546 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080280 p.Pro266Leu US rs745908606 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080281 p.Thr267Ser US rs138144479 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080282 p.Arg404Leu US - Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080284 p.Ser506Gly US rs141799673 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080286 p.Arg547Gln US rs139618850 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080287 p.Ser555Ile US rs375014127 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080288 p.Phe578Ser US rs137854526 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080289 p.Met618Ile US rs1422717390 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080291 p.Thr714Ser US rs200631556 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080292 p.Leu781Pro US - Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080293 p.Ser796Leu US rs61910685 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080294 p.Cys804Ser US rs1233836740 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080295 p.Ala830Val US rs766853141 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080296 p.Met833Lys US rs142073798 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080297 p.Met839Arg US - Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080298 p.Met900Leu US rs148293985 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO6 Q4KMQ2 VAR_028109 p.Ala128Thr LB/B rs2162321 - ANO7 Q6IWH7 VAR_032616 p.Val67Ile LB/B rs2302054 - ANO7 Q6IWH7 VAR_065166 p.Glu912Lys LB/B rs7590653 - ANO9 A1A5B4 VAR_032617 p.Ile391Val LB/B rs10794324 - ANO9 A1A5B4 VAR_032618 p.Cys399Arg LB/B rs10794323 - ANO9 A1A5B4 VAR_054621 p.Leu93Phe LB/B rs7395065 - ANOS1 P23352 VAR_007720 p.Asn267Lys LP/P - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_007721 p.Val534Ile LB/B rs808119 - ANOS1 P23352 VAR_012742 p.Glu514Lys LP/P rs137852515 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_031012 p.Cys163Tyr LP/P - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_031013 p.Cys172Arg LP/P rs1394625082 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_031014 p.Arg262Pro LP/P - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_031015 p.Asn304Ser LP/P rs140812865 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_031016 p.Ser396Leu LP/P rs137852517 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_031017 p.Phe517Leu LP/P - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_031018 p.Trp571Arg LP/P rs1170543613 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_031019 p.Lys666Met LB/B - - ANOS1 P23352 VAR_031020 p.Arg668His LB/B rs775708192 - ANOS1 P23352 VAR_065362 p.Cys134Gly LP/P - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_065363 p.Cys163Arg LP/P - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_065364 p.Glu539Lys LP/P rs144586521 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_069207 p.Tyr217Asp US - - ANOS1 P23352 VAR_069968 p.Val587Leu LP/P rs137900287 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_072992 p.His672Arg LP/P rs199771303 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANP32CP O43423 VAR_020419 p.Arg71Lys LB/B rs2288675 - ANP32CP O43423 VAR_020420 p.Glu204Gly LB/B rs2288676 - ANP32CP O43423 VAR_026702 p.Ala23Val LB/B rs2288674 - ANP32CP O43423 VAR_026703 p.Tyr140His LB/B rs76372915 - ANP32CP O43423 VAR_048314 p.Leu105Pro LB/B rs17008716 - ANP32D O95626 VAR_027832 p.Leu46Phe LB/B rs7956679 - ANPEP P15144 VAR_006727 p.Asp242Tyr LB/B - - ANPEP P15144 VAR_006728 p.Leu243Pro LB/B - - ANPEP P15144 VAR_014736 p.Arg86Gln LB/B rs25653 - ANPEP P15144 VAR_014737 p.Ser752Asn LB/B rs25651 - ANPEP P15144 VAR_031262 p.Val20Met LB/B rs10152474 - ANPEP P15144 VAR_031263 p.Ala311Val LB/B rs17240268 - ANPEP P15144 VAR_031264 p.Thr321Met LB/B rs8179199 - ANPEP P15144 VAR_031265 p.Ile603Lys LB/B rs17240212 - ANPEP P15144 VAR_031266 p.Ile603Met LB/B rs8192297 - ANTXR1 Q9H6X2 VAR_053015 p.Arg7Lys LB/B rs28365986 - ANTXR1 Q9H6X2 VAR_063146 p.Ala326Thr LB/B rs119475040 - ANTXR2 P58335 VAR_022687 p.Leu45Pro LP/P rs886041401 Hyaline fibromatosis syndrome (HFS) [MIM:228600] ANTXR2 P58335 VAR_022688 p.Gly105Asp LP/P rs137852902 Hyaline fibromatosis syndrome (HFS) [MIM:228600] ANTXR2 P58335 VAR_022689 p.Ile189Thr LP/P rs137852905 Hyaline fibromatosis syndrome (HFS) [MIM:228600] ANTXR2 P58335 VAR_022690 p.Cys218Arg LP/P rs781637328 Hyaline fibromatosis syndrome (HFS) [MIM:228600] ANTXR2 P58335 VAR_022692 p.Leu329Arg LP/P rs137852903 Hyaline fibromatosis syndrome (HFS) [MIM:228600] ANTXR2 P58335 VAR_022693 p.Ala357Pro LB/B rs12647691 - ANTXR2 P58335 VAR_022694 p.Tyr381Cys LP/P rs137852901 Hyaline fibromatosis syndrome (HFS) [MIM:228600] ANTXRL A6NF34 VAR_042963 p.Pro550Arg LB/B rs1554967247 - ANXA10 Q9UJ72 VAR_030786 p.Met71Leu LB/B rs6836994 - ANXA11 P50995 VAR_012006 p.Arg230Cys LB/B rs1049550 - ANXA11 P50995 VAR_012007 p.Ile457Val LB/B rs1802932 - ANXA11 P50995 VAR_048259 p.Arg191Gln LB/B rs2229554 - ANXA11 P50995 VAR_080653 p.Gly38Arg US rs142083484 Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839] ANXA11 P50995 VAR_080654 p.Asp40Gly LP/P rs1247392012 Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839] ANXA11 P50995 VAR_080655 p.Gly175Arg US rs754594235 Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839] ANXA11 P50995 VAR_080656 p.Gly189Glu US rs569546089 Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839] ANXA11 P50995 VAR_080657 p.Arg235Gln US rs765489119 Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839] ANXA11 P50995 VAR_080658 p.Arg346Cys US rs770574196 Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839] ANXA11 P50995 VAR_087101 p.Asp40Tyr LP/P - Inclusion body myopathy and brain white matter abnormalities (IBMWMA) [MIM:619733] ANXA13 P27216 VAR_055501 p.Arg86His LB/B rs2294013 - ANXA13 P27216 VAR_055502 p.Val108Ile LB/B rs6995099 - ANXA13 P27216 VAR_055503 p.Val272Ile LB/B rs2294015 - ANXA2 P07355 VAR_012982 p.Val98Leu LB/B rs17845226 - ANXA2R Q3ZCQ2 VAR_033348 p.Gln119Arg LB/B rs1054428 - ANXA2R Q3ZCQ2 VAR_033349 p.Arg186Trp LB/B rs10971 - ANXA3 P12429 VAR_013914 p.Ser19Asn LB/B rs5951 - ANXA3 P12429 VAR_013915 p.Ile219Asn LB/B rs5948 - ANXA3 P12429 VAR_013916 p.Pro251Leu LB/B rs5949 - ANXA3 P12429 VAR_013917 p.Phe291Ser LB/B rs5941 - ANXA4 P09525 VAR_055500 p.Thr85Met LB/B rs2228203 - ANXA7 P20073 VAR_048253 p.Arg441Gln LB/B rs3750575 - ANXA8 P13928 VAR_000604 p.Ser6Ala LB/B rs3870786 - ANXA8 P13928 VAR_030630 p.Gly177Ala LB/B rs75345346 - ANXA8L1 Q5VT79 VAR_048254 p.Ala177Gly LB/B rs1487921382 - ANXA8L1 Q5VT79 VAR_067447 p.Ala134Val LB/B rs201596209 - ANXA8L1 Q5VT79 VAR_067448 p.Lys192Asn LB/B rs1249096344 - ANXA9 O76027 VAR_022814 p.Asp166Gly LB/B rs267733 - ANXA9 O76027 VAR_031212 p.Arg225Gln LB/B rs775255778 - ANXA9 O76027 VAR_048255 p.Ala28Thr LB/B rs16832595 - ANXA9 O76027 VAR_048256 p.Thr114Ala LB/B rs7536645 - ANXA9 O76027 VAR_048257 p.Ala119Thr LB/B rs16832602 - ANXA9 O76027 VAR_048258 p.Arg232Gln LB/B rs7542365 - AOAH P28039 VAR_020133 p.Ala166Thr LB/B rs3735384 - AOAH P28039 VAR_033513 p.Ala266Gly LB/B rs3735386 - AOAH P28039 VAR_050663 p.Asp28Asn LB/B rs2228410 - AOC1 P19801 VAR_007542 p.His645Asp LB/B rs1049793 - AOC1 P19801 VAR_025078 p.Thr16Met LB/B rs10156191 - AOC1 P19801 VAR_025079 p.Ser332Phe LB/B rs1049742 - AOC1 P19801 VAR_025080 p.Met479Ile LB/B rs45558339 - AOC1 P19801 VAR_025081 p.Asn659His LB/B rs35070995 - AOC2 O75106 VAR_025022 p.Ile5Val LB/B rs34230945 - AOC2 O75106 VAR_025023 p.Tyr22Cys LB/B rs34435306 - AOC2 O75106 VAR_025024 p.Pro141Leu LB/B rs35833794 - AOC2 O75106 VAR_025025 p.Arg273Gln LB/B rs35508987 - AOC2 O75106 VAR_025026 p.Glu427Asp LB/B rs34351794 - AOC3 Q16853 VAR_012064 p.Tyr317His LB/B rs438287 - AOC3 Q16853 VAR_024343 p.Arg329Gln LB/B rs2229595 - AOC3 Q16853 VAR_025027 p.His167Tyr LB/B rs2228470 - AOC3 Q16853 VAR_025028 p.Ile371Thr LB/B rs35097308 - AOC3 Q16853 VAR_025029 p.Ala408Ser LB/B rs35643019 - AOC3 Q16853 VAR_025030 p.Arg426His LB/B rs33986943 - AOC3 Q16853 VAR_025031 p.Arg441Trp LB/B rs2229596 - AOC3 Q16853 VAR_025032 p.Ala582Thr LB/B rs34987927 - AOC3 Q16853 VAR_025033 p.Gly700Ser LB/B rs477207 - AOC3 Q16853 VAR_025034 p.Ala749Val LB/B rs34012919 - AOC3 Q16853 VAR_025035 p.Thr5Arg LB/B rs33954211 - AOC3 Q16853 VAR_052603 p.Arg78Gln LB/B rs402680 - AOC3 Q16853 VAR_052604 p.Val171Met LB/B rs408038 - AOC3 Q16853 VAR_052605 p.His203Arg LB/B rs630079 - AOPEP Q8N6M6 VAR_021511 p.Val179Ala LB/B rs16911679 - AOPEP Q8N6M6 VAR_057053 p.Val179Ile LB/B rs16911679 - AOPEP Q8N6M6 VAR_057054 p.Arg255Gln LB/B rs16911681 - AOPEP Q8N6M6 VAR_057055 p.Arg386Cys LB/B rs34557833 - AOX1 Q06278 VAR_047517 p.Arg802Cys LB/B rs41309768 - AOX1 Q06278 VAR_047518 p.His1297Arg LB/B rs3731722 - AOX1 Q06278 VAR_061136 p.Gln314Arg LB/B rs58185012 - AOX1 Q06278 VAR_070256 p.Arg921His LB/B rs56199635 - AOX1 Q06278 VAR_070257 p.Asn1135Ser LB/B rs55754655 - AOX1 Q06278 VAR_070258 p.Ser1271Leu LB/B rs141786030 - AP1AR Q63HQ0 VAR_050769 p.Thr297Ile LB/B rs34900583 - AP1B1 Q10567 VAR_062816 p.Ala777Thr LB/B rs2857465 - AP1B1 Q10567 VAR_083524 p.Cys144Arg LP/P rs1602749299 Keratitis-ichthyosis-deafness syndrome, autosomal recessive (KIDAR) [MIM:242150] AP1G1 O43747 VAR_013572 p.Pro685His LB/B rs904763 - AP1G1 O43747 VAR_048194 p.Val195Gly LB/B rs36037071 - AP1G1 O43747 VAR_086350 p.Arg15Gln LP/P - Usmani-Riazuddin syndrome, autosomal dominant (USRISD) [MIM:619467] AP1G1 O43747 VAR_086351 p.Arg35Gln LP/P - Usmani-Riazuddin syndrome, autosomal dominant (USRISD) [MIM:619467] AP1G1 O43747 VAR_086352 p.Arg35Trp LP/P - Usmani-Riazuddin syndrome, autosomal dominant (USRISD) [MIM:619467] AP1G1 O43747 VAR_086353 p.Pro243His LP/P - Usmani-Riazuddin syndrome, autosomal recessive (USRISR) [MIM:619548] AP1G1 O43747 VAR_086354 p.Met366Val LP/P - Usmani-Riazuddin syndrome, autosomal recessive (USRISR) [MIM:619548] AP1G1 O43747 VAR_086355 p.Pro817Arg LP/P - Usmani-Riazuddin syndrome, autosomal dominant (USRISD) [MIM:619467] AP1G2 O75843 VAR_024363 p.Ser377Phe LB/B rs12897422 - AP1M1 Q9BXS5 VAR_036536 p.Arg303Gln US rs999036825 A breast cancer sample AP1S3 Q96PC3 VAR_072545 p.Phe4Cys LB/B rs116107386 - AP1S3 Q96PC3 VAR_072546 p.Gln17Lys LB/B rs750870128 - AP1S3 Q96PC3 VAR_072547 p.Thr22Ala LB/B rs149183052 - AP1S3 Q96PC3 VAR_072548 p.Thr32Ile LB/B rs78536455 - AP1S3 Q96PC3 VAR_072549 p.Arg33Trp LB/B rs138292988 - AP1S3 Q96PC3 VAR_072550 p.Leu79Val LB/B rs34353588 - AP1S3 Q96PC3 VAR_072551 p.Ile83Thr LB/B rs202157374 - AP1S3 Q96PC3 VAR_072552 p.Gln124Glu LB/B - - AP2A1 O95782 VAR_060544 p.Pro270Leu LB/B rs17851121 - AP2M1 Q96CW1 VAR_082954 p.Arg170Trp LP/P rs1577059692 Intellectual developmental disorder, autosomal dominant 60, with seizures (MRD60) [MIM:618587] AP2S1 P53680 VAR_069570 p.Arg15Cys LP/P rs397514498 Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740] AP2S1 P53680 VAR_069571 p.Arg15His LP/P rs397514499 Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740] AP2S1 P53680 VAR_069572 p.Arg15Leu LP/P rs397514499 Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740] AP3B1 O00203 VAR_011596 p.Leu580Arg LP/P rs121908904 Hermansky-Pudlak syndrome 2 (HPS2) [MIM:608233] AP3B1 O00203 VAR_058404 p.Val585Glu LB/B rs6453373 - AP3D1 O14617 VAR_033517 p.Gly541Arg LB/B rs34569645 - AP3D1 O14617 VAR_033518 p.Ile1072Val LB/B rs25673 - AP3S1 Q92572 VAR_059111 p.Pro158Leu LB/B rs7733604 - AP4B1 Q9Y6B7 VAR_030804 p.Leu480Ser LB/B rs1217401 - AP4E1 Q9UPM8 VAR_031621 p.Cys163Arg LB/B rs2306331 - AP4E1 Q9UPM8 VAR_076619 p.Ile85Thr LB/B rs147005786 - AP4E1 Q9UPM8 VAR_076620 p.Phe96Val US rs566579877 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076621 p.Thr145Ser LB/B rs200034177 - AP4E1 Q9UPM8 VAR_076622 p.His205Asn US rs148499164 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076623 p.Arg211Gln LB/B rs750328226 - AP4E1 Q9UPM8 VAR_076624 p.Asn264Ser LB/B rs145541719 - AP4E1 Q9UPM8 VAR_076625 p.Asn311Ser US rs536656846 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076626 p.Ser326Phe US rs372479885 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076627 p.His384Arg US rs866266998 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076628 p.Ile426Leu LB/B rs148817957 - AP4E1 Q9UPM8 VAR_076629 p.Ala475Val US rs200678853 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076630 p.Val517Ile LP/P rs760021635 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076631 p.Met542Val US rs542940704 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076632 p.Val618Ile LB/B rs142215198 - AP4E1 Q9UPM8 VAR_076633 p.Ser623Pro US rs766696884 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076634 p.Ile706Lys LB/B rs865868636 - AP4E1 Q9UPM8 VAR_076635 p.Glu801Lys LP/P rs556450190 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076636 p.Met813Val LB/B rs779094838 - AP4E1 Q9UPM8 VAR_076637 p.Ser905Pro US rs780520338 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076638 p.Pro978Ser US rs141278078 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076639 p.Ile1080Val US rs767423538 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076640 p.Leu1089Arg US rs550237440 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076641 p.Arg1105Gln US rs139640763 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_079485 p.Lys719Glu US - - AP5M1 Q9H0R1 VAR_055484 p.Gly226Arg LB/B rs10137359 - AP5M1 Q9H0R1 VAR_055485 p.Glu379Asp LB/B rs10140245 - AP5Z1 O43299 VAR_049511 p.Ser94Cys LB/B rs11549839 - APBA1 Q02410 VAR_050664 p.Ser184Ala LB/B rs34788368 - APBA2 Q99767 VAR_050665 p.Leu311Pro LB/B rs8040932 - APBA3 O96018 VAR_011822 p.Ile527Phe LB/B rs1045236 - APBA3 O96018 VAR_020134 p.Lys276Thr LB/B rs3746119 - APBA3 O96018 VAR_047952 p.Cys376Arg LB/B rs8102086 - APBA3 O96018 VAR_050666 p.Trp154Leu LB/B rs35932323 - APBB1 O00213 VAR_014444 p.Met327Val LB/B rs1800423 - APBB1 O00213 VAR_014445 p.Asn396Ser LB/B rs1800425 - APBB1IP Q7Z5R6 VAR_050098 p.Thr404Ala LB/B rs34081356 - APBB1IP Q7Z5R6 VAR_059447 p.Ala617Thr LB/B rs7903226 - APBB2 Q92870 VAR_069029 p.Arg179Gln LB/B rs4861358 - APBB3 O95704 VAR_024702 p.Cys231Arg LB/B rs250430 - APBB3 O95704 VAR_029518 p.Gly165Arg LB/B rs7715021 - APC P25054 VAR_005032 p.Ser171Ile LP/P - Familial adenomatous polyposis 1 (FAP1) [MIM:175100] APC P25054 VAR_005033 p.Arg414Cys LP/P rs137854567 Familial adenomatous polyposis 1 (FAP1) [MIM:175100] APC P25054 VAR_005034 p.Ser784Thr LP/P - Familial adenomatous polyposis 1 (FAP1) [MIM:175100] APC P25054 VAR_005035 p.Gly817Cys LP/P - Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005036 p.Ile880Thr US rs1400295986 Colorectal carcinoma APC P25054 VAR_005036 p.Ile880Thr LP/P rs1400295986 Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005037 p.Ser906Tyr US - Colorectal tumor APC P25054 VAR_005038 p.Glu911Gly US - Colorectal tumor APC P25054 VAR_005038 p.Glu911Gly LP/P - Familial adenomatous polyposis 1 (FAP1) [MIM:175100] APC P25054 VAR_005039 p.Asn942Asp LP/P - Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005040 p.Tyr1027Cys US rs869312784 Colorectal tumor APC P25054 VAR_005041 p.Asn1118Asp LB/B rs140493115 - APC P25054 VAR_005042 p.Gly1120Glu LP/P rs28933379 Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005043 p.Arg1171His LP/P rs372481703 Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005044 p.Pro1176Leu LP/P - Familial adenomatous polyposis 1 (FAP1) [MIM:175100] APC P25054 VAR_005045 p.Phe1197Ser LP/P - Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005046 p.Ile1259Thr LP/P - Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005047 p.Thr1292Met US rs371113837 Familial adenomatous polyposis 1 (FAP1) [MIM:175100] APC P25054 VAR_005048 p.Ile1304Val LB/B rs770157475 - APC P25054 VAR_005049 p.Ile1307Lys LB/B rs1801155 - APC P25054 VAR_005050 p.Gly1312Glu LP/P - Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005051 p.Thr1313Ala US rs863225349 Colorectal tumor APC P25054 VAR_005051 p.Thr1313Ala LP/P rs863225349 Familial adenomatous polyposis 1 (FAP1) [MIM:175100] APC P25054 VAR_005052 p.Val1326Ala LP/P - Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005053 p.Arg1348Trp LP/P - Familial adenomatous polyposis 1 (FAP1) [MIM:175100] APC P25054 VAR_005054 p.Asp1422His US - Colorectal tumor APC P25054 VAR_005055 p.Gly2502Ser LB/B rs2229995 - APC P25054 VAR_005056 p.Ser2621Cys US rs72541816 Familial adenomatous polyposis 1 (FAP1) [MIM:175100] APC P25054 VAR_005057 p.Leu2839Phe LP/P rs876658156 Familial adenomatous polyposis 1 (FAP1) [MIM:175100] APC P25054 VAR_008992 p.Arg1171Cys LB/B rs201830995 - APC P25054 VAR_008993 p.Val1822Asp LB/B rs459552 - APC P25054 VAR_008994 p.Ile2738Thr LB/B rs863224552 - APC P25054 VAR_009613 p.Arg99Trp US rs139196838 Familial adenomatous polyposis 1 (FAP1) [MIM:175100] APC P25054 VAR_009614 p.Ser722Gly LP/P - Familial adenomatous polyposis 1 (FAP1) [MIM:175100] APC P25054 VAR_009615 p.Glu1057Gly US - - APC P25054 VAR_009616 p.Ala1184Pro LP/P - Familial adenomatous polyposis 1 (FAP1) [MIM:175100] APC P25054 VAR_009617 p.Glu1317Gln LB/B rs1801166 - APC P25054 VAR_012975 p.Val890Ile US rs779998847 Colorectal carcinoma APC P25054 VAR_012976 p.Ala1508Val US - Colorectal carcinoma from a patient with MMRCS APC P25054 VAR_017653 p.Ala1296Val LP/P rs1291513037 Medulloblastoma (MDB) [MIM:155255] APC P25054 VAR_017654 p.Val1472Ile LP/P rs878853445 Medulloblastoma (MDB) [MIM:155255] APC P25054 VAR_017655 p.Ser1495Gly LP/P - Medulloblastoma (MDB) [MIM:155255] APC P25054 VAR_020141 p.Thr1496Ser LB/B rs2229996 - APC P25054 VAR_020142 p.Ser1973Thr LB/B rs4987109 - APC P25054 VAR_035794 p.Ile1254Phe US - A colorectal cancer sample APC P25054 VAR_053976 p.Pro870Ser LB/B rs33974176 - APC P25054 VAR_053977 p.Arg1882Thr LB/B rs34157245 - APC P25054 VAR_053978 p.Val2499Leu LB/B rs33941929 - APC P25054 VAR_065133 p.Ser1395Cys LB/B rs137854578 - APC2 O95996 VAR_037703 p.Ala562Ser US - A breast cancer sample APC2 O95996 VAR_037704 p.Gly2003Ser US rs1288757495 A breast cancer sample APC2 O95996 VAR_037705 p.Ser2241Ala LB/B rs265277 - APC2 O95996 VAR_081224 p.His1921Asn LB/B - - APCDD1 Q8J025 VAR_050667 p.Val150Ile LB/B rs3748415 - APCDD1 Q8J025 VAR_063497 p.Leu9Arg LP/P rs267606659 Hypotrichosis 1 (HYPT1) [MIM:605389] APCDD1L Q8NCL9 VAR_029625 p.Cys30Arg LB/B rs3946003 - APCDD1L Q8NCL9 VAR_029626 p.Tyr80His LB/B rs7265854 - APCDD1L Q8NCL9 VAR_029627 p.Arg261Cys LB/B rs16981999 - APCDD1L Q8NCL9 VAR_050668 p.Arg83Gln LB/B rs7265902 - APCS P02743 VAR_006054 p.Glu155Gly LB/B - - APCS P02743 VAR_006055 p.Ser158Gly LB/B - - APCS P02743 VAR_035814 p.Gly141Ser US - A breast cancer sample APEH P13798 VAR_051580 p.Thr541Met LB/B rs3816877 - APEX1 P27695 VAR_013455 p.Gln51His LB/B rs1048945 - APEX1 P27695 VAR_014823 p.Ile64Val LB/B rs2307486 - APEX1 P27695 VAR_019790 p.Asp148Glu LB/B rs1130409 - APEX2 Q9UBZ4 VAR_023390 p.Arg141Cys LB/B rs2301416 - APEX2 Q9UBZ4 VAR_048261 p.Arg141Trp LB/B rs2301416 - APEX2 Q9UBZ4 VAR_064033 p.His269Tyr LB/B rs145122391 - APEX2 Q9UBZ4 VAR_064034 p.Asn392His LB/B rs201964062 - APH1B Q8WW43 VAR_048315 p.Phe217Leu LB/B rs1047552 - API5 Q9BZZ5 VAR_021519 p.Pro276Ser LB/B - - API5 Q9BZZ5 VAR_021520 p.Met300Val LB/B rs5743240 - API5 Q9BZZ5 VAR_021521 p.Gly493Ser LB/B rs2862934 - APIP Q96GX9 VAR_026575 p.Arg7Trp LB/B rs2956114 - APIP Q96GX9 VAR_026576 p.His23Arg LB/B rs17850326 - APIP Q96GX9 VAR_026577 p.Cys76Tyr LB/B rs1977420 - APIP Q96GX9 VAR_026578 p.Met181Val LB/B rs17850327 - APLF Q8IW19 VAR_032299 p.Ile100Val LB/B rs11902811 - APLF Q8IW19 VAR_032300 p.Leu336Phe LB/B rs13404469 - APLF Q8IW19 VAR_061557 p.Ser224Thr LB/B rs35002937 - APLNR P35414 VAR_049375 p.Val300Ile LB/B rs7943508 - APLP2 Q06481 VAR_022039 p.Asp632Asn LB/B rs3740881 - APMAP Q9HDC9 VAR_014128 p.Ile65Val LB/B rs12242 - APMAP Q9HDC9 VAR_055039 p.Arg282Gln LB/B rs35097515 - APMAP Q9HDC9 VAR_055040 p.Arg374Trp LB/B rs28364786 - APOA1 P02647 VAR_000605 p.Pro27His LB/B rs121912720 - APOA1 P02647 VAR_000606 p.Pro27Arg LB/B rs121912720 - APOA1 P02647 VAR_000607 p.Pro28Arg LB/B rs121912721 - APOA1 P02647 VAR_000608 p.Arg34Leu LB/B rs28929476 - APOA1 P02647 VAR_000609 p.Gly50Arg LP/P rs28931574 Amyloidosis 8 (AMYL8) [MIM:105200] APOA1 P02647 VAR_000610 p.Leu84Arg LP/P rs121912724 Amyloidosis 8 (AMYL8) [MIM:105200] APOA1 P02647 VAR_000611 p.Asp113Glu LB/B rs150243849 - APOA1 P02647 VAR_000612 p.Ala119Asp US - - APOA1 P02647 VAR_000613 p.Asp127Asn LB/B rs921646982 - APOA1 P02647 VAR_000615 p.Lys131Met LB/B rs4882 - APOA1 P02647 VAR_000616 p.Trp132Arg US - - APOA1 P02647 VAR_000617 p.Glu134Lys US - - APOA1 P02647 VAR_000618 p.Glu160Lys LB/B rs121912718 - APOA1 P02647 VAR_000619 p.Glu163Gly LB/B rs758509542 - APOA1 P02647 VAR_000620 p.Pro167Arg LB/B rs121912719 - APOA1 P02647 VAR_000621 p.Leu168Arg US - - APOA1 P02647 VAR_000622 p.Glu171Val LB/B rs1015066427 - APOA1 P02647 VAR_000623 p.Pro189Arg LB/B rs121912722 - APOA1 P02647 VAR_000624 p.Arg197Cys LB/B rs28931573 - APOA1 P02647 VAR_000625 p.Glu222Lys LB/B rs121912717 - APOA1 P02647 VAR_014609 p.Arg184Pro LB/B rs5078 - APOA1 P02647 VAR_016189 p.Asp126His LB/B rs5077 - APOA1 P02647 VAR_017017 p.Thr92Ile LB/B rs766422306 - APOA1 P02647 VAR_021362 p.Val180Glu LB/B rs121912727 - APOA1 P02647 VAR_025445 p.Ala61Thr LB/B rs12718465 - APOA1 P02647 VAR_074073 p.Arg173Ser US - - APOA1 P02647 VAR_083310 p.Arg173Pro US - Amyloidosis 8 (AMYL8) [MIM:105200] APOA1 P02647 VAR_083311 p.Leu198Ser LP/P - Amyloidosis 8 (AMYL8) [MIM:105200] APOA1 P02647 VAR_083312 p.Ala199Pro US - Amyloidosis 8 (AMYL8) [MIM:105200] APOA4 P06727 VAR_000626 p.Val13Met LB/B rs12721041 - APOA4 P06727 VAR_000627 p.Glu44Lys US - - APOA4 P06727 VAR_000628 p.Ser147Asn LB/B rs5104 - APOA4 P06727 VAR_000629 p.Ala161Ser LB/B rs12721043 - APOA4 P06727 VAR_000630 p.Ser178Leu LB/B rs1181852696 - APOA4 P06727 VAR_000631 p.Glu185Lys LB/B rs201861136 - APOA4 P06727 VAR_000632 p.Lys187Glu LB/B rs773492545 - APOA4 P06727 VAR_000633 p.Glu250Lys LB/B rs121909576 - APOA4 P06727 VAR_000634 p.Arg264Gln LB/B rs2238008 - APOA4 P06727 VAR_000635 p.Arg305Cys LB/B rs150264487 - APOA4 P06727 VAR_000636 p.Thr367Ser LB/B rs675 - APOA4 P06727 VAR_000637 p.Gln380His LB/B rs5110 - APOA4 P06727 VAR_014610 p.Gly74Ser LB/B rs5102 - APOA4 P06727 VAR_014611 p.Val307Leu LB/B rs5108 - APOA4 P06727 VAR_025443 p.Arg279Lys LB/B rs1042372 - APOA4 P06727 VAR_025444 p.Gln77His LB/B rs12721042 - APOA5 Q6Q788 VAR_021165 p.Ser19Trp LB/B rs3135506 - APOA5 Q6Q788 VAR_021166 p.Val153Met LB/B rs3135507 - APOA5 Q6Q788 VAR_021167 p.Gly185Cys LB/B rs2075291 - APOA5 Q6Q788 VAR_035124 p.Asp37Glu LB/B rs34282181 - APOB P04114 VAR_005016 p.Phe1437Leu LB/B rs1801697 - APOB P04114 VAR_005017 p.Asn1914Ser LB/B rs1801699 - APOB P04114 VAR_005018 p.His1923Arg LB/B rs533617 - APOB P04114 VAR_005019 p.Glu2566Lys LB/B rs1801696 - APOB P04114 VAR_005020 p.Pro2739Leu LB/B rs676210 - APOB P04114 VAR_005021 p.Ala3121Thr LB/B rs1801694 - APOB P04114 VAR_005022 p.Asp3319His LB/B rs1042021 - APOB P04114 VAR_005023 p.Thr3427Lys LB/B rs1042022 - APOB P04114 VAR_005024 p.Gln3432Glu LB/B rs1042023 - APOB P04114 VAR_005025 p.Arg3527Gln LP/P rs5742904 Hypercholesterolemia, familial, 2 (FHCL2) [MIM:144010] APOB P04114 VAR_005026 p.Arg3558Cys LP/P rs12713559 Hypercholesterolemia, familial, 2 (FHCL2) [MIM:144010] APOB P04114 VAR_005027 p.Val3921Ile LB/B rs72654409 - APOB P04114 VAR_005028 p.Thr3945Ala LB/B rs1801698 - APOB P04114 VAR_005029 p.Val4128Met LB/B rs1801703 - APOB P04114 VAR_005030 p.Ser4338Asn LB/B rs1042034 - APOB P04114 VAR_005031 p.Ala4481Thr LB/B rs1801695 - APOB P04114 VAR_016184 p.Thr98Ile LB/B rs1367117 - APOB P04114 VAR_016185 p.Val733Ile LB/B rs1800476 - APOB P04114 VAR_016186 p.Arg3638Gln LB/B rs1801701 - APOB P04114 VAR_016187 p.Glu4181Lys LB/B rs1042031 - APOB P04114 VAR_016188 p.Arg4270Thr LB/B rs1801702 - APOB P04114 VAR_019827 p.Lys273Asn LB/B - - APOB P04114 VAR_019828 p.Ala618Val LB/B rs679899 - APOB P04114 VAR_019829 p.Gln1218Glu LB/B rs1041956 - APOB P04114 VAR_019830 p.Leu2092Val LB/B rs1041960 - APOB P04114 VAR_019831 p.Ala2365Thr LB/B rs1041971 - APOB P04114 VAR_019832 p.Leu2680Gln LB/B rs1042013 - APOB P04114 VAR_019833 p.Ile3732Thr LB/B rs1042025 - APOB P04114 VAR_019834 p.Phe3949Leu LB/B rs1042027 - APOB P04114 VAR_019835 p.Tyr3964Phe LB/B rs1126468 - APOB P04114 VAR_020135 p.Pro554Leu LB/B rs12714214 - APOB P04114 VAR_020136 p.Val730Ile LB/B rs12691202 - APOB P04114 VAR_020137 p.Thr741Asn LB/B rs12714192 - APOB P04114 VAR_020138 p.Ala2456Asp LB/B rs12713675 - APOB P04114 VAR_020139 p.Ser3294Pro LB/B rs12720855 - APOB P04114 VAR_020140 p.Thr4484Met LB/B rs12713450 - APOB P04114 VAR_022036 p.Tyr103His LB/B rs9282603 - APOB P04114 VAR_022037 p.Pro145Ser LB/B rs6752026 - APOB P04114 VAR_022038 p.Asn2785His LB/B rs2163204 - APOB P04114 VAR_022610 p.Arg490Trp LP/P rs771541567 Hypobetalipoproteinemia, familial, 1 (FHBL1) [MIM:615558] APOB P04114 VAR_022611 p.Arg1128His LB/B rs12713843 - APOB P04114 VAR_029341 p.Ile408Thr LB/B rs12714225 - APOB P04114 VAR_029342 p.Pro877Leu LB/B rs12714097 - APOB P04114 VAR_029343 p.Gly1086Ser LB/B rs12720801 - APOB P04114 VAR_029344 p.Asp1113His LB/B rs12713844 - APOB P04114 VAR_029345 p.Arg1388His LB/B rs13306187 - APOB P04114 VAR_029346 p.Asp2299His LB/B rs12713681 - APOB P04114 VAR_029347 p.His3182Asn LB/B rs12720848 - APOB P04114 VAR_029348 p.Ser3279Gly LB/B rs12720854 - APOB P04114 VAR_029349 p.Ser3801Thr LB/B rs12713540 - APOB P04114 VAR_029350 p.Val4394Ala LB/B rs12720843 - APOB P04114 VAR_035795 p.Phe2564Cys US - A colorectal cancer sample APOB P04114 VAR_056737 p.Thr194Met LB/B rs13306198 - APOB P04114 VAR_056738 p.Pro955Ser LB/B rs13306206 - APOB P04114 VAR_059582 p.Ile2313Val LB/B rs584542 - APOB P04114 VAR_061558 p.Cys1422Tyr LB/B rs568413 - APOB P04114 VAR_067278 p.Ser1613Thr LB/B rs61742247 - APOB P04114 VAR_067279 p.Ile3835Leu LB/B rs776119459 - APOB P04114 VAR_067280 p.Ile4314Val LB/B rs72654423 - APOB P04114 VAR_067281 p.Ile4482Val LB/B rs142702699 - APOB P04114 VAR_068911 p.Glu1670Asp LB/B rs773681906 - APOB P04114 VAR_068912 p.Ile2037Asn LB/B - - APOB P04114 VAR_076538 p.Ala251Thr LB/B rs61741625 - APOB P04114 VAR_076539 p.Val952Leu US - Hypobetalipoproteinemia, familial, 1 (FHBL1) [MIM:615558] APOBEC1 P41238 VAR_013779 p.Met80Ile LB/B rs2302515 - APOBEC1 P41238 VAR_048720 p.Arg236Lys LB/B rs12820011 - APOBEC2 Q9Y235 VAR_024406 p.Ile136Thr LB/B rs2076472 - APOBEC3A P31941 VAR_048721 p.Thr19Ala LB/B rs17000556 - APOBEC3B Q9UH17 VAR_018142 p.Lys62Glu LB/B rs2076109 - APOBEC3B Q9UH17 VAR_018143 p.Pro98Leu LB/B rs2076110 - APOBEC3B Q9UH17 VAR_018144 p.Thr146Lys LB/B rs5995649 - APOBEC3B Q9UH17 VAR_033455 p.Ser109Ala LB/B rs17000697 - APOBEC3B Q9UH17 VAR_048722 p.Arg351His LB/B rs1053813 - APOBEC3F Q8IUX4 VAR_018145 p.Gln61Leu LB/B rs2076109 - APOBEC3F Q8IUX4 VAR_018146 p.Pro97Leu LB/B rs201939303 - APOBEC3F Q8IUX4 VAR_018147 p.Ala108Ser LB/B rs2020390 - APOBEC3F Q8IUX4 VAR_018148 p.Val231Ile LB/B rs2076101 - APOBEC3F Q8IUX4 VAR_025058 p.Ala178Thr LB/B rs34182094 - APOBEC3F Q8IUX4 VAR_025059 p.Tyr307Cys LB/B rs12157816 - APOBEC3F Q8IUX4 VAR_038355 p.Arg48Pro LB/B rs35053197 - APOBEC3G Q9HC16 VAR_017837 p.His186Arg LB/B rs8177832 - APOBEC3G Q9HC16 VAR_025060 p.Gln275Glu LB/B rs17496046 - APOBEC3G Q9HC16 VAR_048723 p.Arg256His LB/B rs17000736 - APOBEC3H Q6NTF7 VAR_032835 p.Arg18Leu LB/B rs139293 - APOBEC3H Q6NTF7 VAR_032836 p.Gly105Arg LB/B rs139297 - APOBEC3H Q6NTF7 VAR_032837 p.Lys121Glu LB/B rs139298 - APOBEC3H Q6NTF7 VAR_032838 p.Lys121Asn LB/B rs139299 - APOBEC3H Q6NTF7 VAR_032839 p.Glu178Asp LB/B rs139302 - APOBEC3H Q6NTF7 VAR_067444 p.Glu140Lys LB/B rs139300 - APOBEC4 Q8WW27 VAR_026639 p.Ser75Phe LB/B rs16861394 - APOBEC4 Q8WW27 VAR_026640 p.Phe271Ser LB/B rs1174658 - APOBEC4 Q8WW27 VAR_026641 p.Pro275Ser LB/B rs10911391 - APOBEC4 Q8WW27 VAR_026642 p.Lys331Glu LB/B rs1174657 - APOBEC4 Q8WW27 VAR_026643 p.Val345Met LB/B rs10911390 - APOBEC4 Q8WW27 VAR_048724 p.Asp300Gly LB/B rs16861381 - APOBR Q0VD83 VAR_042432 p.Pro428Ala LB/B rs180743 - APOC1 P02654 VAR_014183 p.Ile16Met LB/B rs5112 - APOC1 P02654 VAR_029011 p.Thr71Ser LB/B rs142372275 - APOC2 P02655 VAR_000639 p.Lys41Thr LB/B rs120074114 - APOC2 P02655 VAR_000640 p.Trp48Arg LP/P rs120074115 Hyperlipoproteinemia 1B (HLPP1B) [MIM:207750] APOC2 P02655 VAR_000641 p.Glu60Lys LB/B rs5122 - APOC2 P02655 VAR_000642 p.Lys77Gln LB/B rs5126 - APOC3 P02656 VAR_000643 p.Lys78Glu LP/P rs121918382 Hyperalphalipoproteinemia 2 (HALP2) [MIM:614028] APOC3 P02656 VAR_000644 p.Thr94Ala LB/B rs121918381 - APOC4 P55056 VAR_012068 p.Leu96Arg LB/B rs5167 - APOC4 P55056 VAR_012069 p.Gln126Leu LB/B rs5168 - APOC4 P55056 VAR_012081 p.Leu36Pro LB/B rs1132899 - APOC4 P55056 VAR_012082 p.Gly52Asp LB/B rs12691089 - APOC4 P55056 VAR_036540 p.Pro75Gln US - A breast cancer sample APOD P05090 VAR_011931 p.Phe15Ser LB/B rs5952 - APOD P05090 VAR_011932 p.Ser115Leu LB/B rs5954 - APOD P05090 VAR_011933 p.Thr178Lys LB/B rs5955 - APOE P02649 VAR_000645 p.Glu21Lys LB/B rs121918392 - APOE P02649 VAR_000646 p.Glu31Lys LP/P rs201672011 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000647 p.Leu46Pro US rs769452 - APOE P02649 VAR_000648 p.Thr60Ala LB/B rs28931576 - APOE P02649 VAR_000649 p.Gln99Lys LB/B rs1180612218 - APOE P02649 VAR_000650 p.Pro102Arg LB/B rs11083750 - APOE P02649 VAR_000651 p.Ala117Thr LB/B rs28931577 - APOE P02649 VAR_000652 p.Cys130Arg LP/P rs429358 Alzheimer disease 2 (AD2) [MIM:104310] APOE P02649 VAR_000652 p.Cys130Arg LP/P rs429358 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000653 p.Gly145Asp US rs267606664 - APOE P02649 VAR_000655 p.Arg152Gln LB/B rs28931578 - APOE P02649 VAR_000656 p.Arg154Ser LP/P rs121918393 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000657 p.Arg154Cys LP/P rs121918393 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000658 p.Arg160Cys LP/P rs387906567 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000659 p.Arg163Cys LP/P rs769455 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000660 p.Arg163His US rs121918397 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000661 p.Lys164Gln LP/P rs121918394 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000662 p.Lys164Glu LP/P rs121918394 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000663 p.Ala170Pro LB/B rs267606662 - APOE P02649 VAR_000664 p.Arg176Cys LP/P rs7412 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000665 p.Arg242Gln LB/B rs267606663 - APOE P02649 VAR_000666 p.Arg246Cys LB/B rs121918395 - APOE P02649 VAR_000667 p.Val254Glu LB/B rs199768005 - APOE P02649 VAR_000669 p.Arg269Gly LB/B rs267606661 - APOE P02649 VAR_000670 p.Leu270Glu US - - APOE P02649 VAR_000671 p.Arg292His LB/B rs121918398 - APOE P02649 VAR_000672 p.Ser314Arg LB/B rs28931579 - APOE P02649 VAR_014114 p.Gln64His LB/B rs370594287 - APOE P02649 VAR_016789 p.Ala124Val LB/B rs937063425 - APOE P02649 VAR_042734 p.Arg43Cys LP/P rs121918399 Lipoprotein glomerulopathy (LPG) [MIM:611771] APOE P02649 VAR_042735 p.Arg163Pro LP/P rs121918397 Lipoprotein glomerulopathy (LPG) [MIM:611771] APOF Q13790 VAR_055520 p.Ala178Gly LB/B rs11575216 - APOH P02749 VAR_000673 p.Val266Leu LB/B rs4581 - APOH P02749 VAR_008169 p.Ser107Asn LB/B rs1801692 - APOH P02749 VAR_008170 p.Cys325Gly LB/B rs1801689 - APOH P02749 VAR_008171 p.Trp335Ser LB/B rs1801690 - APOH P02749 VAR_019155 p.Arg154His LB/B rs8178847 - APOH P02749 VAR_048316 p.Val5Ala LB/B rs3826358 - APOL1 O14791 VAR_011383 p.Glu150Lys LB/B rs2239785 - APOL1 O14791 VAR_011384 p.Met228Ile LB/B rs136175 - APOL1 O14791 VAR_011385 p.Arg255Lys LB/B rs136176 - APOL1 O14791 VAR_036568 p.Ile188Thr US - A breast cancer sample APOL1 O14791 VAR_046641 p.Asp337Asn LB/B rs16996616 - APOL1 O14791 VAR_061995 p.Ile384Met LB/B rs60910145 - APOL1 O14791 VAR_063598 p.Ser342Gly LB/B rs73885319 - APOL2 Q9BQE5 VAR_012978 p.Val245Ile LB/B rs132760 - APOL2 Q9BQE5 VAR_024366 p.Arg182Cys LB/B rs7285167 - APOL3 O95236 VAR_047488 p.Ala135Val LB/B rs6000152 - APOL3 O95236 VAR_053007 p.Ser39Arg LB/B rs132653 - APOL4 Q9BPW4 VAR_053008 p.Ile9Val LB/B rs132736 - APOL4 Q9BPW4 VAR_053009 p.Val12Leu LB/B rs80587 - APOL4 Q9BPW4 VAR_053010 p.Met159Val LB/B rs132700 - APOL4 Q9BPW4 VAR_059966 p.Arg223His LB/B rs2227168 - APOL4 Q9BPW4 VAR_059967 p.Ala319Glu LB/B rs6000173 - APOL4 Q9BPW4 VAR_059968 p.Ser326Leu LB/B rs6000172 - APOL5 Q9BWW9 VAR_020355 p.Thr272Met LB/B rs2076671 - APOL5 Q9BWW9 VAR_020356 p.Thr323Met LB/B rs2076672 - APOL5 Q9BWW9 VAR_020357 p.Ser406Cys LB/B rs2076673 - APOL5 Q9BWW9 VAR_053012 p.Glu81Lys LB/B rs5999985 - APOL6 Q9BWW8 VAR_053013 p.Asn173Lys LB/B rs5999923 - APP P05067 VAR_000016 p.Ala692Gly LP/P rs63750671 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_000017 p.Glu693Gln LP/P rs63750579 Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] APP P05067 VAR_000018 p.Ala713Val US rs1800557 - APP P05067 VAR_000019 p.Ala713Thr LP/P rs63750066 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_000020 p.Ile716Val LP/P rs63750399 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_000021 p.Val717Ile LP/P rs63750264 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_000022 p.Val717Gly LP/P rs63749964 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_000023 p.Val717Phe LP/P rs63750264 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_010107 p.Glu665Asp LB/B rs63750363 - APP P05067 VAR_010108 p.Val715Met LP/P rs63750734 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_010109 p.Leu723Pro LP/P rs63751122 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_014215 p.Glu693Gly LP/P rs63751039 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_014216 p.Glu693Lys LP/P rs63750579 Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] APP P05067 VAR_014217 p.Asp694Asn LP/P rs63749810 Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] APP P05067 VAR_014218 p.Thr714Ile LP/P rs63750973 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_014219 p.Val717Leu LP/P rs63750264 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_022315 p.Glu501Lys LB/B rs45588932 - APP P05067 VAR_032276 p.Leu705Val LP/P rs63750921 Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] APP P05067 VAR_032277 p.Thr714Ala LP/P rs63750643 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_044424 p.Asp678Asn LP/P rs63750064 Alzheimer disease 1 (AD1) [MIM:104300] APPBP2 Q92624 VAR_052606 p.Ser561Asn LB/B rs34146848 - APPL1 Q9UKG1 VAR_035909 p.Glu643Gln US - A breast cancer sample APPL1 Q9UKG1 VAR_050958 p.Ala108Val LB/B rs4381906 - APPL1 Q9UKG1 VAR_050959 p.Glu700Gly LB/B rs11544593 - APPL1 Q9UKG1 VAR_075857 p.Asp94Asn LP/P rs796065047 Maturity-onset diabetes of the young 14 (MODY14) [MIM:616511] APPL2 Q8NEU8 VAR_021505 p.Ala433Val LB/B rs2272495 - APRG1 Q8IVJ8 VAR_032538 p.His107Tyr LB/B rs17266511 - APRT P07741 VAR_006747 p.Asp65Val LP/P rs104894506 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_006748 p.Leu110Pro LP/P rs104894508 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_006749 p.Met136Thr LP/P rs28999113 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_019055 p.Gln121Arg LB/B rs8191494 - APRT P07741 VAR_022608 p.Val150Phe LP/P rs281860266 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_022609 p.Cys153Arg LP/P - Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_069049 p.Leu33Pro LP/P rs1909145695 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_069050 p.Val84Met LP/P rs200392753 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_069051 p.Gly133Asp LP/P rs1909055807 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APTX Q7Z2E3 VAR_018794 p.Lys211Gln LP/P - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018795 p.Ala212Val LP/P rs748165574 Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018796 p.Arg213His LP/P rs150886026 Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018797 p.His215Arg LP/P rs121908133 Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018798 p.Pro220Leu LP/P rs121908131 Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018799 p.Val277Gly LP/P rs121908132 Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018800 p.Asp281Gly LP/P - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018801 p.Trp293Arg LP/P rs773393618 Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_025365 p.Leu237Pro LP/P rs267606665 Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] AQP1 P29972 VAR_004400 p.Ala45Val LB/B rs28362692 - AQP1 P29972 VAR_013279 p.Pro38Leu LB/B rs104894004 - AQP1 P29972 VAR_022318 p.Gly165Asp LB/B rs28362731 - AQP10 Q96PS8 VAR_033519 p.Arg15Gln LB/B rs6668968 - AQP10 Q96PS8 VAR_050063 p.His123Tyr LB/B rs6685323 - AQP11 Q8NBQ7 VAR_020446 p.Gly102Ser LB/B rs2276415 - AQP2 P41181 VAR_004401 p.Gly64Arg LP/P rs104894326 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_004402 p.Arg187Cys LP/P rs104894328 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_004403 p.Ser216Pro LP/P rs104894329 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015239 p.Leu22Val LP/P rs104894336 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015240 p.Leu28Pro LP/P - Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015241 p.Ala47Val LP/P rs995684800 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015242 p.Asn68Ser LP/P rs104894331 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015243 p.Val71Met LP/P rs149659001 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015244 p.Thr125Met LP/P rs104894333 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015245 p.Thr126Met LP/P rs104894330 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015246 p.Ala147Thr LP/P rs104894334 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015247 p.Val168Met LP/P rs755694590 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015248 p.Gly175Arg LP/P rs104894335 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015249 p.Cys181Trp LP/P rs104894337 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015250 p.Pro185Ala LP/P rs761713751 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015251 p.Ala190Thr LP/P rs104894341 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015252 p.Val194Ile LB/B rs772051028 - AQP2 P41181 VAR_015253 p.Trp202Cys LP/P - Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015254 p.Glu258Lys LP/P rs104894332 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015255 p.Pro262Leu LP/P rs104894339 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015256 p.Gln57Pro LP/P rs28931580 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_015257 p.Gly100Val LP/P rs104894338 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_037577 p.Leu121Phe LB/B rs11169226 - AQP2 P41181 VAR_062585 p.Ala70Asp LP/P - Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_062586 p.Gly100Arg LP/P rs1303076207 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_062587 p.Gly180Ser LP/P rs147039983 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_062588 p.Arg187His LP/P rs193922495 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_062589 p.Arg254Leu LP/P - Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_062590 p.Arg254Gln LP/P - Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP2 P41181 VAR_071370 p.Thr108Met LP/P rs1468828294 Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800] AQP3 Q92482 VAR_025089 p.Val43Met LB/B rs34942735 - AQP4 P55087 VAR_088778 p.Ala215Thr LP/P - Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting (MLC4) [MIM:620448] AQP5 P55064 VAR_070442 p.Ala38Glu LP/P rs398123054 Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] AQP5 P55064 VAR_070443 p.Ile45Ser LP/P rs398123055 Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] AQP5 P55064 VAR_070444 p.Asn123Asp LP/P rs398123057 Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] AQP5 P55064 VAR_070445 p.Ile177Phe LP/P rs398123056 Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] AQP5 P55064 VAR_070446 p.Arg188Cys LP/P rs368292687 Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] AQP6 Q13520 VAR_047233 p.Val234Ile LB/B rs17124220 - AQP7 O14520 VAR_061343 p.Leu38Val LB/B rs2381003 - AQP7 O14520 VAR_061344 p.Lys63Thr LB/B rs4008658 - AQP7 O14520 VAR_067253 p.Arg12Cys LB/B rs139297434 - AQP7 O14520 VAR_067254 p.Val59Leu LB/B rs4008659 - AQP7 O14520 VAR_067255 p.Gly264Val LB/B rs62542743 - AQP8 O94778 VAR_021933 p.Ala260Pro LB/B rs2287798 - AQP8 O94778 VAR_036484 p.Ile229Met US - A breast cancer sample AQP9 O43315 VAR_024538 p.Thr279Ala LB/B rs1867380 - AR P10275 VAR_004679 p.Glu2Lys LP/P rs104894742 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004680 p.Leu54Ser US - Prostate cancer AR P10275 VAR_004681 p.Leu57Gln US rs78686797 Prostate cancer AR P10275 VAR_004684 p.Arg608Gln US rs137852573 Breast cancer AR P10275 VAR_004684 p.Arg608Gln LP/P rs137852573 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004685 p.Arg609Lys US rs137852576 Breast cancer AR P10275 VAR_004685 p.Arg609Lys LP/P rs137852576 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004686 p.Ala646Asp LB/B rs1800053 - AR P10275 VAR_004687 p.Ile665Asn LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004687 p.Ile665Asn LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004688 p.Leu678Pro LP/P rs137852579 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004690 p.Asp696His LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004691 p.Asp696Asn LP/P rs1555995840 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004692 p.Asp696Val LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004693 p.Ser704Gly LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004693 p.Ser704Gly LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004694 p.Leu708Arg LP/P rs137852585 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004695 p.Val731Met US rs137852571 Prostate cancer AR P10275 VAR_004696 p.Asp733Asn LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004697 p.Asp733Tyr LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004698 p.Met743Ile LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004699 p.Gly744Val LP/P rs137852600 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004699 p.Gly744Val LP/P rs137852600 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004700 p.Met750Val LP/P rs1085307685 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004700 p.Met750Val LP/P rs1085307685 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004701 p.Gly751Asp LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004702 p.Arg753Gln LP/P rs1057523747 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004703 p.Phe755Val LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004704 p.Leu763Phe LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004705 p.Tyr764Cys US rs137852567 Prostate cancer AR P10275 VAR_004705 p.Tyr764Cys LP/P rs137852567 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004707 p.Ala766Thr LP/P rs1555996863 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004708 p.Arg775His LP/P rs137852572 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004708 p.Arg775His LP/P rs137852572 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004709 p.Arg775Cys LP/P rs137852562 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004710 p.Arg780Trp LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004711 p.Met781Ile LP/P rs137852589 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004711 p.Met781Ile LP/P rs137852589 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004712 p.Cys785Tyr LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004713 p.Met788Val LP/P rs137852570 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004714 p.Phe795Ser LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004715 p.Gln799Glu US rs137852591 Prostate cancer AR P10275 VAR_004715 p.Gln799Glu LP/P rs137852591 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004715 p.Gln799Glu LP/P rs137852591 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004716 p.Met808Arg LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004717 p.Met808Val LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004718 p.Ser815Asn LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004718 p.Ser815Asn LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004719 p.Arg832Leu LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004720 p.Arg832Gln LP/P rs1386577803 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004721 p.Arg841Cys LP/P rs137852577 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004722 p.Arg841Gly LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004723 p.Arg841His LP/P rs9332969 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004724 p.Ile843Thr LP/P rs9332970 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004725 p.Arg856Cys LP/P rs886041132 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004726 p.Arg856His LP/P rs9332971 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004727 p.Asp865Asn LP/P rs1555997810 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004728 p.Val867Glu LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004729 p.Val867Leu LP/P rs137852564 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004730 p.Val867Met US rs137852564 Prostate cancer AR P10275 VAR_004730 p.Val867Met LP/P rs137852564 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004731 p.Ile870Met LP/P rs137852574 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004732 p.Thr878Ala LB/B rs137852578 - AR P10275 VAR_004733 p.Pro893Leu LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004734 p.Met896Thr LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004735 p.Leu908Phe LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004736 p.Pro914Ser LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009224 p.Gln196Arg LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009225 p.Leu257Pro LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009226 p.Pro392Arg LP/P rs773996740 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009227 p.Pro392Ser LP/P rs201934623 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009228 p.Gln445Arg US rs1355285524 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009229 p.Arg841Ser LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009711 p.Gln64Arg US - Prostate cancer AR P10275 VAR_009712 p.Gln114His US - Prostate cancer AR P10275 VAR_009713 p.Lys182Arg US - Prostate cancer AR P10275 VAR_009714 p.Ser207Arg LB/B rs374549047 - AR P10275 VAR_009715 p.Gly216Arg LB/B rs199554641 - AR P10275 VAR_009716 p.Met268Thr US - Prostate cancer AR P10275 VAR_009717 p.Pro271Ser US - Prostate cancer AR P10275 VAR_009718 p.Pro342Leu US rs138454018 Prostate cancer AR P10275 VAR_009719 p.Gly492Ser LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009720 p.Asp529Gly US - Prostate cancer AR P10275 VAR_009721 p.Leu548Phe LP/P rs139524801 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009722 p.Pro549Ser LP/P rs137852588 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009723 p.Cys560Tyr LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009725 p.Gly569Val US - - AR P10275 VAR_009726 p.Gly569Trp LP/P rs1555982864 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009727 p.Tyr572Cys LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009728 p.Ala574Asp LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009729 p.Leu575Pro US - Prostate cancer AR P10275 VAR_009730 p.Thr576Ala US - Prostate cancer AR P10275 VAR_009731 p.Cys577Phe LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009732 p.Cys577Arg LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009733 p.Cys580Phe LP/P rs137852586 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009734 p.Cys580Tyr LP/P rs137852586 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009735 p.Lys581Arg US - Prostate cancer AR P10275 VAR_009736 p.Val582Phe LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009737 p.Phe583Ser LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009738 p.Phe583Tyr LP/P rs137852587 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009740 p.Arg586Lys LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009741 p.Ala587Val US - Prostate cancer AR P10275 VAR_009742 p.Ala588Ser US - Prostate cancer AR P10275 VAR_009743 p.Ala597Thr LP/P rs137852569 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009744 p.Ser598Gly LP/P rs142280455 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009745 p.Ser598Thr US - - AR P10275 VAR_009746 p.Cys602Phe LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009747 p.Asp605Tyr LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009748 p.Asn611Thr LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009749 p.Cys612Tyr LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009751 p.Arg616His LP/P rs754201976 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009751 p.Arg616His LP/P rs754201976 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009752 p.Arg616Pro LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009753 p.Leu617Pro LP/P rs1555990488 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009754 p.Leu617Arg LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009755 p.Arg618Pro LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009755 p.Arg618Pro LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009756 p.Cys620Tyr US - Prostate cancer AR P10275 VAR_009757 p.Arg630Gln US rs868669253 Prostate cancer AR P10275 VAR_009758 p.Lys631Thr US - Prostate cancer AR P10275 VAR_009760 p.Ser648Asn US rs137852584 Prostate cancer AR P10275 VAR_009761 p.Gln671Arg US - Prostate cancer AR P10275 VAR_009762 p.Pro672His LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009763 p.Ile673Thr US - Prostate cancer AR P10275 VAR_009764 p.Glu682Lys LP/P rs1555995816 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009765 p.Gly684Ala US - - AR P10275 VAR_009766 p.Val685Ile LP/P rs1555995822 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009767 p.Cys687Arg LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009768 p.Ala688Val LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009769 p.Gly689Glu LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009771 p.Leu701Met LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009772 p.Leu702Phe LP/P rs1555995851 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009773 p.Leu702His LB/B rs864622007 - AR P10275 VAR_009774 p.Ser703Ala LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009775 p.Ser704Cys LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009776 p.Asn706Ser LP/P rs925822435 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009777 p.Gly709Ala LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009778 p.Gly709Val LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009779 p.Arg711Thr LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009780 p.Leu713Phe LP/P rs137852595 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009781 p.Val716Met US rs1340026226 Prostate cancer AR P10275 VAR_009782 p.Lys718Glu US - Prostate cancer AR P10275 VAR_009783 p.Lys721Glu US - Prostate cancer AR P10275 VAR_009784 p.Ala722Thr US rs137852583 Prostate cancer AR P10275 VAR_009785 p.Leu723Phe LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009786 p.Pro724Ser LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009787 p.Gly725Asp US - Prostate cancer AR P10275 VAR_009787 p.Gly725Asp LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009788 p.Phe726Leu LB/B rs1555996810 - AR P10275 VAR_009789 p.Arg727Leu US rs137852593 Prostate cancer AR P10275 VAR_009790 p.Asn728Lys LP/P rs768869912 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009791 p.Leu729Ser LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009792 p.Gln734His LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009793 p.Ile738Thr LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009794 p.Trp742Arg LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009795 p.Met743Val LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009796 p.Leu745Phe US - Prostate cancer AR P10275 VAR_009796 p.Leu745Phe LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009797 p.Met746Thr LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009798 p.Val747Met LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009799 p.Ala749Asp LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009800 p.Ala749Thr US - Prostate cancer AR P10275 VAR_009801 p.Ala749Val US - Prostate cancer AR P10275 VAR_009802 p.Met750Ile US - Prostate cancer AR P10275 VAR_009803 p.Gly751Ser US - Prostate cancer AR P10275 VAR_009804 p.Trp752Arg LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009805 p.Phe755Leu US - Prostate cancer AR P10275 VAR_009805 p.Phe755Leu LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009806 p.Thr756Ala US - Prostate cancer AR P10275 VAR_009807 p.Asn757Ser LP/P rs141425171 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009808 p.Val758Ala US - Prostate cancer AR P10275 VAR_009809 p.Asn759Thr LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009810 p.Ser760Phe LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009811 p.Ser760Pro US - Prostate cancer AR P10275 VAR_009812 p.Tyr764His LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009813 p.Phe765Leu LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009814 p.Ala766Val LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009815 p.Pro767Ser LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009816 p.Asp768Glu LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009817 p.Leu769Pro LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009818 p.Asn772His LP/P rs886041352 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009819 p.Glu773Ala LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009820 p.Glu773Gly LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009821 p.Ser783Asn US - Prostate cancer AR P10275 VAR_009822 p.Arg789Ser LP/P rs1254203917 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009823 p.Leu791Phe LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009824 p.Ser792Pro US - Prostate cancer AR P10275 VAR_009825 p.Glu794Asp LB/B rs1414341563 - AR P10275 VAR_009826 p.Cys807Tyr LP/P rs1064793480 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009827 p.Met808Thr LP/P rs137852592 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009828 p.Leu813Phe LP/P rs1555997625 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009829 p.Gly821Ala LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009830 p.Leu822Val LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009831 p.Leu831Pro US - Prostate cancer AR P10275 VAR_009832 p.Tyr835Cys LP/P rs1057521122 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009833 p.Ile842Ser LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009834 p.Arg847Gly US - Prostate cancer AR P10275 VAR_009835 p.Arg855Lys LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009836 p.Phe857Leu LP/P rs137852598 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009837 p.Leu864Arg LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009838 p.Asp865Gly LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009839 p.Ser866Pro LP/P rs137852597 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009840 p.Ala871Gly LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009841 p.Ala871Val LP/P rs143040492 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009842 p.Arg872Gly LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009843 p.His875Tyr US rs137852581 Prostate cancer AR P10275 VAR_009844 p.Thr878Ser US rs137852580 Prostate cancer AR P10275 VAR_009845 p.Leu881Gln US - Prostate cancer AR P10275 VAR_009846 p.Leu882Val LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009847 p.Met887Val LP/P rs755226547 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009848 p.Val890Met LP/P rs886041133 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009848 p.Val890Met LP/P rs886041133 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009849 p.Asp891Asn US - Prostate cancer AR P10275 VAR_009850 p.Phe892Leu US - Prostate cancer AR P10275 VAR_009851 p.Ala897Thr US - Prostate cancer AR P10275 VAR_009852 p.Ile899Thr LP/P rs1555998105 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009853 p.Gln903Arg US rs137852582 Prostate cancer AR P10275 VAR_009854 p.Val904Met LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009855 p.Pro905His LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009856 p.Pro905Ser LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009857 p.Gly910Glu US - Prostate cancer AR P10275 VAR_009858 p.Gly910Arg LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009859 p.Lys911Arg US - Prostate cancer AR P10275 VAR_009860 p.Val912Leu LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009861 p.Phe917Leu LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009862 p.His918Arg LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009863 p.Gln920Arg US - Prostate cancer AR P10275 VAR_013474 p.Pro683Thr LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_013475 p.Asn706Tyr LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_013476 p.Gln712Glu LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_013477 p.Gly744Glu LP/P rs137852600 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_013478 p.Phe828Val LP/P - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_013479 p.His875Arg LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_013480 p.Asp880Tyr LP/P - Androgen insensitivity syndrome (AIS) [MIM:300068] ARAF P10398 VAR_040375 p.Met98Thr LB/B rs56197559 - ARAF P10398 VAR_040376 p.Gly331Cys US - A colorectal adenocarcinoma sample ARAF P10398 VAR_040377 p.Glu578Asp LB/B rs55852926 - ARAP1 Q96P48 VAR_055529 p.Arg358Gln LB/B rs34976830 - ARAP1 Q96P48 VAR_061023 p.Gln1047Glu LB/B rs56200889 - ARAP2 Q8WZ64 VAR_027952 p.Arg1523Gln LB/B rs4833069 - ARAP2 Q8WZ64 VAR_055530 p.Lys384Asn LB/B rs35468501 - ARAP2 Q8WZ64 VAR_055531 p.Phe1006Leu LB/B rs35218548 - ARAP3 Q8WWN8 VAR_036180 p.Arg471Trp US rs1562420371 A colorectal cancer sample ARAP3 Q8WWN8 VAR_036181 p.Ile1085Met US - A breast cancer sample ARAP3 Q8WWN8 VAR_036182 p.Thr1428Pro US rs61749636 A breast cancer sample ARAP3 Q8WWN8 VAR_048330 p.Asp218His LB/B rs1031904 - ARB2A Q8WUF8 VAR_039312 p.Ser131Asn LB/B rs17083426 - ARB2A Q8WUF8 VAR_080593 p.Glu228Gln US rs767629211 - ARCN1 P48444 VAR_011788 p.Phe186Leu LB/B rs682327 - ARCN1 P48444 VAR_011789 p.Lys309Asn LB/B rs1063124 - AREG P15514 VAR_018918 p.Asp80Val LB/B rs373527160 - AREG P15514 VAR_018919 p.Tyr81Cys LB/B rs28364979 - AREL1 O15033 VAR_083342 p.Pro779Leu LB/B rs371610162 - ARF1 P84077 VAR_081272 p.Tyr35His LP/P rs879036238 Periventricular nodular heterotopia 8 (PVNH8) [MIM:618185] ARF1 P84077 VAR_081273 p.Arg99His US - Periventricular nodular heterotopia 8 (PVNH8) [MIM:618185] ARF1 P84077 VAR_081274 p.Lys127Glu LP/P - Periventricular nodular heterotopia 8 (PVNH8) [MIM:618185] ARF4 P18085 VAR_048317 p.Val68Ala LB/B rs11550597 - ARFGAP1 Q8N6T3 VAR_015187 p.Val184Met LB/B rs2273499 - ARFGAP2 Q8N6H7 VAR_030780 p.Ser411Asn LB/B rs3740691 - ARFGAP2 Q8N6H7 VAR_048321 p.Pro143Arg LB/B rs11542793 - ARFGAP2 Q8N6H7 VAR_048322 p.Arg339His LB/B rs34662994 - ARFGAP2 Q8N6H7 VAR_048323 p.Arg406Trp LB/B rs35950498 - ARFGAP3 Q9NP61 VAR_013447 p.Ser355Arg LB/B rs1018448 - ARFGAP3 Q9NP61 VAR_036177 p.Glu290Gly US - A breast cancer sample ARFGAP3 Q9NP61 VAR_055523 p.Ser231Gly LB/B rs9607957 - ARFGAP3 Q9NP61 VAR_055524 p.Ser370Gly LB/B rs16986123 - ARFGAP3 Q9NP61 VAR_055525 p.Gln468His LB/B rs35498349 - ARFGAP3 Q9NP61 VAR_055526 p.Ala482Thr LB/B rs36003980 - ARFGAP3 Q9NP61 VAR_055527 p.Gln490Arg LB/B rs11551619 - ARFGEF1 Q9Y6D6 VAR_028749 p.Asp273Tyr LB/B rs4321984 - ARFGEF1 Q9Y6D6 VAR_036155 p.Gly316Glu US - A colorectal cancer sample ARFGEF1 Q9Y6D6 VAR_087630 p.Asp798Asn LP/P rs1840520188 Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures (DEDISB) [MIM:619964] ARFGEF2 Q9Y6D5 VAR_028750 p.Ala527Val LB/B rs6063343 - ARFGEF2 Q9Y6D5 VAR_036156 p.Lys794Glu US - A breast cancer sample ARFGEF2 Q9Y6D5 VAR_037438 p.Glu209Lys US rs28937880 Periventricular nodular heterotopia 2 (PVNH2) [MIM:608097] ARFGEF2 Q9Y6D5 VAR_069404 p.Arg802Gln LB/B rs748482139 - ARFGEF3 Q5TH69 VAR_032154 p.Ser689Ala LB/B rs7764091 - ARFGEF3 Q5TH69 VAR_032155 p.Ala1571Thr LB/B rs3736706 - ARFGEF3 Q5TH69 VAR_032156 p.Lys2031Arg LB/B rs35964895 - ARFGEF3 Q5TH69 VAR_051925 p.Glu413Asp LB/B rs9376338 - ARFRP1 Q13795 VAR_036559 p.Leu108Val US - A breast cancer sample ARG1 P05089 VAR_000674 p.Gly235Arg LP/P rs104893948 Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_000675 p.Thr290Ser LB/B rs104893942 - ARG1 P05089 VAR_015594 p.Ile11Thr LP/P rs28941474 Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_015595 p.Gly138Val LP/P rs104893943 Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_072164 p.Gly27Asp LP/P rs1326930389 Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_072165 p.Gly74Val LP/P - Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_072166 p.Ala125Val LP/P - Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_072167 p.Thr134Ile LP/P - Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_072168 p.Arg180Thr LP/P - Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_072169 p.Arg308Gln LP/P rs377280518 Argininemia (ARGIN) [MIM:207800] ARG2 P78540 VAR_033520 p.Gly240Arg LB/B rs17104534 - ARGFX A6NJG6 VAR_037226 p.Arg145Gln LB/B rs9813391 - ARHGAP1 Q07960 VAR_049137 p.Arg369Cys LB/B rs11822837 - ARHGAP10 A1A4S6 VAR_035114 p.Met684Val LB/B rs2276932 - ARHGAP10 A1A4S6 VAR_049141 p.Pro488Ser LB/B rs17024215 - ARHGAP11A Q6P4F7 VAR_035546 p.Glu605Lys US - A breast cancer sample ARHGAP12 Q8IWW6 VAR_024454 p.Phe442Ser LB/B rs2808096 - ARHGAP18 Q8N392 VAR_060460 p.Thr23Ala LB/B rs3752536 - ARHGAP18 Q8N392 VAR_060461 p.Asn91Ser LB/B rs11544371 - ARHGAP18 Q8N392 VAR_060462 p.Gln165His LB/B rs11544372 - ARHGAP19 Q14CB8 VAR_031152 p.Gln305Arg LB/B rs17112598 - ARHGAP20 Q9P2F6 VAR_031489 p.Ala522Thr LB/B rs7936020 - ARHGAP20 Q9P2F6 VAR_031490 p.Gly632Asp LB/B rs17853925 - ARHGAP21 Q5T5U3 VAR_035187 p.Asn713Ser LB/B rs3748222 - ARHGAP21 Q5T5U3 VAR_035188 p.Thr1594Ala LB/B rs1133897 - ARHGAP21 Q5T5U3 VAR_035189 p.Val1611Ala LB/B rs1143051 - ARHGAP21 Q5T5U3 VAR_035190 p.Glu1629Lys LB/B rs1143057 - ARHGAP21 Q5T5U3 VAR_035191 p.Ala1727Thr LB/B rs1143075 - ARHGAP21 Q5T5U3 VAR_035192 p.Ser1950Asn LB/B rs1127893 - ARHGAP22 Q7Z5H3 VAR_031153 p.Thr410Lys LB/B rs1867586 - ARHGAP22 Q7Z5H3 VAR_031154 p.Arg612Cys LB/B rs3747853 - ARHGAP25 P42331 VAR_049142 p.Arg192Trp LB/B rs3749130 - ARHGAP25 P42331 VAR_049143 p.Arg555Ser LB/B rs4241344 - ARHGAP25 P42331 VAR_049144 p.Met556Thr LB/B rs10177248 - ARHGAP26 Q9UNA1 VAR_013623 p.Asn417Ser LP/P rs121918546 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] ARHGAP27 Q6ZUM4 VAR_038551 p.His889Gln LB/B rs117139057 - ARHGAP28 Q9P2N2 VAR_031155 p.Thr190Ser LB/B rs6506448 - ARHGAP28 Q9P2N2 VAR_031156 p.Gln727Pro LB/B rs1056408 - ARHGAP28 Q9P2N2 VAR_055833 p.Ile168Val LB/B rs2303978 - ARHGAP29 Q52LW3 VAR_038552 p.Ser552Cys US - A breast cancer sample ARHGAP29 Q52LW3 VAR_038553 p.Gly1255Asp LB/B rs1999272 - ARHGAP29 Q52LW3 VAR_049145 p.Pro1192Leu LB/B rs11165091 - ARHGAP30 Q7Z6I6 VAR_031157 p.Phe70Leu LB/B rs17854839 - ARHGAP30 Q7Z6I6 VAR_031158 p.Leu591Val LB/B rs3813609 - ARHGAP31 Q2M1Z3 VAR_039122 p.Pro221Leu LB/B rs751793 - ARHGAP31 Q2M1Z3 VAR_039123 p.Gly803Ser LB/B rs3732413 - ARHGAP31 Q2M1Z3 VAR_039124 p.Ile1115Leu LB/B rs12107254 - ARHGAP31 Q2M1Z3 VAR_039125 p.Val1366Met LB/B rs3796360 - ARHGAP31 Q2M1Z3 VAR_039126 p.Thr1380Ile LB/B rs9852894 - ARHGAP31 Q2M1Z3 VAR_065919 p.Thr727Ile LB/B rs539048828 - ARHGAP4 P98171 VAR_028413 p.Ala104Val LB/B rs5987182 - ARHGAP40 Q5TG30 VAR_042892 p.Gly186Arg LB/B rs6100455 - ARHGAP40 Q5TG30 VAR_042893 p.Arg466Leu LB/B rs6070872 - ARHGAP40 Q5TG30 VAR_042894 p.His516Asn LB/B rs16987460 - ARHGAP44 Q17R89 VAR_031159 p.Val463Met LB/B rs3213688 - ARHGAP45 Q92619 VAR_042693 p.Arg139His LB/B rs1801284 - ARHGAP45 Q92619 VAR_042694 p.Glu259Asp LB/B rs2074442 - ARHGAP45 Q92619 VAR_042695 p.Ser439Gly LB/B rs7251797 - ARHGAP45 Q92619 VAR_042696 p.Met515Ile LB/B rs36084354 - ARHGAP45 Q92619 VAR_042697 p.Ala886Pro LB/B rs34569196 - ARHGAP5 Q13017 VAR_043980 p.Ile17Val LB/B rs17386818 - ARHGAP6 O43182 VAR_024453 p.Asp791Glu LB/B rs1009758 - ARHGAP8 P85298 VAR_049138 p.Tyr172Cys LB/B rs16992915 - ARHGAP8 P85298 VAR_049139 p.Gly333Arg LB/B rs6007344 - ARHGAP8 P85298 VAR_049140 p.Pro415Leu LB/B rs2071762 - ARHGAP8 P85298 VAR_061182 p.Pro418Arg LB/B rs9614957 - ARHGAP9 Q9BRR9 VAR_055830 p.Arg50Gly LB/B rs33927108 - ARHGAP9 Q9BRR9 VAR_055831 p.Arg137Cys LB/B rs3802989 - ARHGAP9 Q9BRR9 VAR_055832 p.Ser370Ala LB/B rs11544238 - ARHGEF1 Q92888 VAR_033521 p.Pro375Leu LB/B rs2303797 - ARHGEF1 Q92888 VAR_035969 p.Met165Val US - A colorectal cancer sample ARHGEF10 O15013 VAR_019118 p.Thr357Ile LP/P rs28940281 Slowed nerve conduction velocity (SNCV) [MIM:608236] ARHGEF10 O15013 VAR_038603 p.Val700Ile LB/B rs2294039 - ARHGEF10 O15013 VAR_057188 p.Val725Ile LB/B rs2294039 - ARHGEF10 O15013 VAR_073288 p.Asn227His US rs767902219 - ARHGEF10L Q9HCE6 VAR_044183 p.Asp69Asn LB/B rs35497285 - ARHGEF10L Q9HCE6 VAR_044184 p.Ala96Val US rs1421731181 A colorectal cancer sample ARHGEF10L Q9HCE6 VAR_044185 p.Arg991Trp LB/B rs6695710 - ARHGEF10L Q9HCE6 VAR_044186 p.Ile1219Val LB/B rs2270976 - ARHGEF10L Q9HCE6 VAR_061794 p.Ser47Asn LB/B rs34417109 - ARHGEF11 O15085 VAR_024285 p.His1427Arg LB/B rs945508 - ARHGEF11 O15085 VAR_061795 p.Ser1416Gly LB/B rs868188 - ARHGEF12 Q9NZN5 VAR_020191 p.Tyr973Phe LB/B rs2305013 - ARHGEF15 O94989 VAR_054215 p.Gly155Val LB/B rs17857129 - ARHGEF15 O94989 VAR_054216 p.Leu277Pro LB/B rs871841 - ARHGEF15 O94989 VAR_054217 p.Ser831Pro LB/B rs3744647 - ARHGEF15 O94989 VAR_057189 p.Pro73Ser LB/B rs9890841 - ARHGEF15 O94989 VAR_077835 p.Arg604Cys US rs587777166 - ARHGEF16 Q5VV41 VAR_059796 p.Val137Met LB/B rs3806164 - ARHGEF16 Q5VV41 VAR_059797 p.His370Tyr LB/B rs2185639 - ARHGEF16 Q5VV41 VAR_061796 p.Glu681Lys LB/B rs56309807 - ARHGEF16 Q5VV41 VAR_083184 p.Arg24Trp LB/B rs562018000 - ARHGEF17 Q96PE2 VAR_032132 p.Gly450Glu LB/B rs3741150 - ARHGEF17 Q96PE2 VAR_032133 p.Ala1465Asp LB/B rs2298808 - ARHGEF18 Q6ZSZ5 VAR_044066 p.Gln889Arg LB/B rs2287918 - ARHGEF18 Q6ZSZ5 VAR_044067 p.Arg940Gln LB/B rs2287920 - ARHGEF18 Q6ZSZ5 VAR_063099 p.Asn1207Ser LB/B rs9329368 - ARHGEF18 Q6ZSZ5 VAR_078919 p.Thr458Ala LP/P rs987233144 Retinitis pigmentosa 78 (RP78) [MIM:617433] ARHGEF19 Q8IW93 VAR_031950 p.Gly163Arg LB/B rs221058 - ARHGEF19 Q8IW93 VAR_031951 p.Glu238Gln LB/B rs221057 - ARHGEF25 Q86VW2 VAR_039402 p.Cys253Tyr LB/B rs17857333 - ARHGEF25 Q86VW2 VAR_039403 p.Gly397Arg LB/B rs17854492 - ARHGEF25 Q86VW2 VAR_039404 p.Gln506Arg LB/B rs1564374 - ARHGEF26 Q96DR7 VAR_039425 p.Val29Leu LB/B rs12493885 - ARHGEF26 Q96DR7 VAR_039426 p.Phe203Ser LB/B rs13096373 - ARHGEF26 Q96DR7 VAR_058205 p.Leu60Pro LB/B rs12497267 - ARHGEF28 Q8N1W1 VAR_039657 p.Arg98Met LB/B rs12659447 - ARHGEF28 Q8N1W1 VAR_039658 p.Trp225Arg LB/B rs7714670 - ARHGEF28 Q8N1W1 VAR_039659 p.Pro284Gln LB/B rs6453022 - ARHGEF28 Q8N1W1 VAR_039660 p.Ser544Leu LB/B rs2973571 - ARHGEF28 Q8N1W1 VAR_039661 p.Arg585Lys LB/B rs2973566 - ARHGEF28 Q8N1W1 VAR_039662 p.His780Asn LB/B rs2973558 - ARHGEF28 Q8N1W1 VAR_039663 p.Pro1548Ser LB/B rs17634865 - ARHGEF28 Q8N1W1 VAR_039664 p.His1640Gln LB/B rs1478453 - ARHGEF3 Q9NR81 VAR_021935 p.Lys13Arg LB/B rs3732507 - ARHGEF3 Q9NR81 VAR_021936 p.Leu335Val LB/B rs3772219 - ARHGEF37 A1IGU5 VAR_043579 p.Met421Leu LB/B rs4629585 - ARHGEF37 A1IGU5 VAR_043580 p.Pro489Leu LB/B rs9324624 - ARHGEF37 A1IGU5 VAR_043581 p.Ser518Arg LB/B rs7732714 - ARHGEF37 A1IGU5 VAR_043582 p.Pro586Thr LB/B rs3733662 - ARHGEF37 A1IGU5 VAR_043583 p.Met604Val LB/B rs1135093 - ARHGEF38 Q9NXL2 VAR_038928 p.Lys67Asn US - A breast cancer sample ARHGEF38 Q9NXL2 VAR_038929 p.Met88Val LB/B rs2276970 - ARHGEF39 Q8N4T4 VAR_032876 p.His306Arg LB/B rs2297879 - ARHGEF39 Q8N4T4 VAR_061801 p.Cys5Phe LB/B rs45567235 - ARHGEF4 Q9NR80 VAR_035970 p.Lys100Arg US - A breast cancer sample ARHGEF4 Q9NR80 VAR_035971 p.Thr441Arg US - A breast cancer sample ARHGEF4 Q9NR80 VAR_057187 p.Asp33His LB/B rs10188052 - ARHGEF40 Q8TER5 VAR_038061 p.Val956Leu LB/B rs7143633 - ARHGEF40 Q8TER5 VAR_038062 p.Leu1189Ser LB/B rs1958396 - ARHGEF40 Q8TER5 VAR_038063 p.Met1312Thr LB/B rs943992 - ARHGEF40 Q8TER5 VAR_060541 p.Thr1418Pro LB/B rs17855344 - ARHGEF6 Q15052 VAR_051981 p.Gln297His LB/B rs5974620 - ARHGEF7 Q14155 VAR_064694 p.Thr790Ala US - - ARHGEF9 O43307 VAR_028752 p.Gly55Ala LP/P rs121918361 Developmental and epileptic encephalopathy 8 (DEE8) [MIM:300607] ARHGEF9 O43307 VAR_069370 p.Glu401Lys US - - ARHGEF9 O43307 VAR_072742 p.Arg290His LP/P - Developmental and epileptic encephalopathy 8 (DEE8) [MIM:300607] ARID1A O14497 VAR_064695 p.Arg1020Lys US - - ARID1A O14497 VAR_064696 p.Leu2089Pro US - - ARID1A O14497 VAR_068021 p.Arg1658Trp LB/B rs1442666063 - ARID1A O14497 VAR_068022 p.Ile1907Phe LB/B rs139230162 - ARID1A O14497 VAR_068023 p.Gly2087Arg LB/B rs1553153748 - ARID1A O14497 VAR_076938 p.Pro120Ser LB/B rs571264557 - ARID1B Q8NFD5 VAR_036257 p.Gly897Ala US - A breast cancer sample ARID1B Q8NFD5 VAR_067664 p.Gln165His LB/B - - ARID1B Q8NFD5 VAR_067665 p.Gly329Ser LB/B rs375160616 - ARID1B Q8NFD5 VAR_067670 p.Ala446Val LB/B rs748273011 - ARID1B Q8NFD5 VAR_067671 p.Gly479Ala LB/B rs760718156 - ARID1B Q8NFD5 VAR_067672 p.Met512Val LB/B rs199948752 - ARID1B Q8NFD5 VAR_067674 p.Ser580Asn LB/B rs764716697 - ARID1B Q8NFD5 VAR_067675 p.Met614Thr LB/B rs141260832 - ARID1B Q8NFD5 VAR_067676 p.Gln959Glu LB/B rs138254872 - ARID1B Q8NFD5 VAR_067677 p.Gln1063Leu LB/B rs139620600 - ARID1B Q8NFD5 VAR_067678 p.Val1175Ile LB/B rs775526039 - ARID1B Q8NFD5 VAR_067679 p.Gln1332Pro LB/B rs768013849 - ARID1B Q8NFD5 VAR_067680 p.Gly1354Glu LB/B rs149389876 - ARID1B Q8NFD5 VAR_067681 p.Gly1386Arg LB/B rs199674889 - ARID1B Q8NFD5 VAR_067682 p.Ser1404Asn LB/B rs142808724 - ARID1B Q8NFD5 VAR_067683 p.Pro1494Ser LB/B - - ARID1B Q8NFD5 VAR_067684 p.Gln1549Lys LB/B - - ARID1B Q8NFD5 VAR_067685 p.Arg1589His LB/B rs1449208173 - ARID1B Q8NFD5 VAR_067686 p.Thr1656Met LB/B rs777745107 - ARID1B Q8NFD5 VAR_067687 p.Asn1742Ser LB/B rs140177120 - ARID1B Q8NFD5 VAR_067689 p.Lys1856Arg LB/B rs574141489 - ARID1B Q8NFD5 VAR_067690 p.Asp1934Asn LB/B rs200305796 - ARID1B Q8NFD5 VAR_067691 p.Lys1981Arg LB/B rs758204258 - ARID1B Q8NFD5 VAR_067692 p.Lys2037Arg LB/B rs756220726 - ARID1B Q8NFD5 VAR_067693 p.Gln2246Arg LB/B - - ARID1B Q8NFD5 VAR_077456 p.Ser854Leu US - - ARID1B Q8NFD5 VAR_077457 p.Gly1519Ala US - - ARID1B Q8NFD5 VAR_077458 p.Pro1646Leu US rs1455506883 - ARID1B Q8NFD5 VAR_077459 p.Asp2070Tyr US - - ARID1B Q8NFD5 VAR_078697 p.Pro571Arg US rs769085274 - ARID1B Q8NFD5 VAR_078698 p.Pro1496Ser US rs1051017338 - ARID3A Q99856 VAR_033203 p.Pro36His LB/B rs17857499 - ARID3A Q99856 VAR_033204 p.Lys320Glu LB/B rs17857501 - ARID3A Q99856 VAR_033205 p.Gly556Ser LB/B rs1051505 - ARID3C A6NKF2 VAR_043033 p.Arg310Gln LB/B rs12337871 - ARID3C A6NKF2 VAR_043034 p.Cys335Gly LB/B rs3808869 - ARID4A P29374 VAR_031566 p.His412Pro LB/B rs34982206 - ARID4A P29374 VAR_031567 p.Asn724Ser LB/B rs2230098 - ARID4A P29374 VAR_031568 p.Thr779Ala LB/B rs1051858 - ARIH1 Q9Y4X5 VAR_082646 p.Glu15Gln LB/B rs1052050835 - ARIH1 Q9Y4X5 VAR_082647 p.Glu44Gly US rs2063786716 - ARIH2 O95376 VAR_054105 p.Glu24Lys LB/B rs11507 - ARIH2 O95376 VAR_054106 p.Glu29Asp LB/B rs34221642 - ARL11 Q969Q4 VAR_023742 p.Ser22Leu LB/B rs147389782 - ARL11 Q969Q4 VAR_023743 p.Pro131Leu LB/B rs147120792 - ARL11 Q969Q4 VAR_023744 p.Cys148Arg LB/B rs3803185 - ARL11 Q969Q4 VAR_023745 p.Glu164Lys LB/B rs146850453 - ARL11 Q969Q4 VAR_048318 p.Leu120Met LB/B rs35712316 - ARL13B Q3SXY8 VAR_048319 p.Thr348Ser LB/B rs33944211 - ARL13B Q3SXY8 VAR_054371 p.Arg79Gln LP/P rs121912606 Joubert syndrome 8 (JBTS8) [MIM:612291] ARL13B Q3SXY8 VAR_054372 p.Arg200Cys LP/P rs121912608 Joubert syndrome 8 (JBTS8) [MIM:612291] ARL13B Q3SXY8 VAR_069190 p.Arg390Leu US - - ARL13B Q3SXY8 VAR_077496 p.Tyr86Cys LP/P rs863225430 Joubert syndrome 8 (JBTS8) [MIM:612291] ARL14 Q8N4G2 VAR_055521 p.Asp83Asn LB/B rs35634980 - ARL14 Q8N4G2 VAR_055522 p.Pro117Thr LB/B rs35633732 - ARL14EP Q8N8R7 VAR_033740 p.Thr180Pro LB/B rs7940297 - ARL16 Q0P5N6 VAR_059129 p.Ser10Arg LB/B rs8066889 - ARL17A Q8IVW1 VAR_017170 p.Leu170Ile LB/B - - ARL2 P36404 VAR_028056 p.Val141Ala LB/B rs664226 - ARL2 P36404 VAR_085165 p.Arg15Leu LP/P - Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 (MRCS1) [MIM:619082] ARL2BP Q9Y2Y0 VAR_053904 p.Glu87Lys LB/B rs7198865 - ARL2BP Q9Y2Y0 VAR_070227 p.Met45Arg LP/P rs398123053 Retinitis pigmentosa 82 with or without situs inversus (RP82) [MIM:615434] ARL3 P36405 VAR_014869 p.Leu34Met LB/B rs1141895 - ARL3 P36405 VAR_081202 p.Arg149Cys LP/P rs776901858 Joubert syndrome 35 (JBTS35) [MIM:618161] ARL3 P36405 VAR_081203 p.Arg149His LP/P rs770782663 Joubert syndrome 35 (JBTS35) [MIM:618161] ARL3 P36405 VAR_081340 p.Tyr90Cys US rs1564730440 Retinitis pigmentosa 83 (RP83) [MIM:618173] ARL4D P49703 VAR_028205 p.Thr91Asn LB/B rs1059968 - ARL6 Q9H0F7 VAR_027643 p.Thr31Met LP/P rs104893680 Bardet-Biedl syndrome 3 (BBS3) [MIM:600151] ARL6 Q9H0F7 VAR_027644 p.Thr31Arg LP/P rs104893680 Bardet-Biedl syndrome 3 (BBS3) [MIM:600151] ARL6 Q9H0F7 VAR_027645 p.Gly169Ala LP/P rs104893679 Bardet-Biedl syndrome 3 (BBS3) [MIM:600151] ARL6 Q9H0F7 VAR_027646 p.Leu170Trp LP/P rs104893681 Bardet-Biedl syndrome 3 (BBS3) [MIM:600151] ARL6 Q9H0F7 VAR_064184 p.Ala89Val LP/P rs587777805 Retinitis pigmentosa 55 (RP55) [MIM:613575] ARL6 Q9H0F7 VAR_071405 p.Ile94Thr LP/P rs771054395 Bardet-Biedl syndrome 3 (BBS3) [MIM:600151] ARL6IP4 Q66PJ3 VAR_058333 p.Lys102Arg US - - ARMC10 Q8N2F6 VAR_034681 p.Pro190Ser LB/B rs17849774 - ARMC2 Q8NEN0 VAR_031948 p.Met166Thr LB/B rs9386758 - ARMC2 Q8NEN0 VAR_031949 p.Asn433Asp LB/B rs17852775 - ARMC2 Q8NEN0 VAR_082206 p.Ile760Asn US rs1562435988 Spermatogenic failure 38 (SPGF38) [MIM:618433] ARMC3 Q5W041 VAR_050669 p.Glu345Gly LB/B rs16922864 - ARMC3 Q5W041 VAR_050670 p.Ser608Pro LB/B rs11013233 - ARMC3 Q5W041 VAR_050671 p.Arg626Gln LB/B rs10828395 - ARMC3 Q5W041 VAR_088606 p.Pro484Ala US - - ARMC5 Q96C12 VAR_050674 p.Ile170Val LB/B rs35923277 - ARMC5 Q96C12 VAR_072352 p.Phe14Tyr LB/B rs151069962 - ARMC5 Q96C12 VAR_072353 p.Ser115Pro LB/B rs199693319 - ARMC5 Q96C12 VAR_072354 p.Leu156Phe LP/P rs114930262 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_072355 p.Arg315Gln LP/P rs1415974570 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_072356 p.Arg315Trp LP/P - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_072357 p.Leu548Pro US rs587777661 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_072358 p.Arg593Trp LP/P rs587777662 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_072359 p.Gly798Ala LB/B rs115611533 - ARMC5 Q96C12 VAR_072360 p.Arg898Trp LP/P rs587777659 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079097 p.Gly56Ala LB/B rs780112907 - ARMC5 Q96C12 VAR_079100 p.Cys139Arg LP/P - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079102 p.Leu318Val US rs1293014259 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079103 p.Gly323Ala US rs35461188 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079104 p.Leu331Pro LP/P - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079105 p.Arg362Leu LP/P - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079106 p.Arg362Trp LP/P rs1385397608 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079108 p.Leu365Pro LP/P rs587777663 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079110 p.Leu394Pro US - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079112 p.Pro483Leu LB/B rs552657393 - ARMC5 Q96C12 VAR_079113 p.Arg502His LB/B rs200054015 - ARMC5 Q96C12 VAR_079114 p.Pro507Leu LB/B rs142376949 - ARMC5 Q96C12 VAR_079115 p.Leu580Pro US - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079117 p.Thr643Met US rs370836071 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079118 p.Cys657Arg LP/P - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079119 p.Cys657Trp LP/P - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079120 p.Ile664Ser LP/P - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079123 p.Pro731Arg LP/P rs200951744 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079124 p.Tyr736Ser LP/P - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079125 p.Leu754Pro LP/P - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079128 p.His808Pro LP/P - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079129 p.Pro826Thr US - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC9 Q7Z3E5 VAR_031170 p.Leu108Phe LB/B rs11558175 - ARMC9 Q7Z3E5 VAR_031171 p.Ile209Thr LB/B rs16827883 - ARMC9 Q7Z3E5 VAR_031172 p.Arg222His LB/B rs3752780 - ARMC9 Q7Z3E5 VAR_056739 p.Ile180Val LB/B rs1626450 - ARMC9 Q7Z3E5 VAR_069411 p.Asp330Asn LB/B - - ARMC9 Q7Z3E5 VAR_080497 p.Gly69Arg US rs750247691 Joubert syndrome 30 (JBTS30) [MIM:617622] ARMC9 Q7Z3E5 VAR_080499 p.Arg343Cys US rs759799287 Joubert syndrome 30 (JBTS30) [MIM:617622] ARMC9 Q7Z3E5 VAR_080500 p.Arg446Cys US rs753432312 Joubert syndrome 30 (JBTS30) [MIM:617622] ARMC9 Q7Z3E5 VAR_080501 p.Gly492Arg US rs780265931 Joubert syndrome 30 (JBTS30) [MIM:617622] ARMC9 Q7Z3E5 VAR_080502 p.Pro520Leu US rs1114167449 Joubert syndrome 30 (JBTS30) [MIM:617622] ARMCX4 Q5H9R4 VAR_024761 p.Arg84Gly LB/B rs5951332 - ARMH4 Q86TY3 VAR_027782 p.Thr96Ile LB/B rs3829765 - ARMH4 Q86TY3 VAR_027783 p.Ala391Val LB/B rs1018504 - ARMH4 Q86TY3 VAR_027784 p.Val528Phe LB/B rs12886921 - ARMH4 Q86TY3 VAR_027785 p.Gln613Glu LB/B rs2273442 - ARMS2 P0C7Q2 VAR_044330 p.Arg3His LB/B rs10490923 - ARMS2 P0C7Q2 VAR_044331 p.Ala69Ser LB/B rs10490924 - ARMT1 Q9H993 VAR_025791 p.Pro77Arg LB/B rs17850732 - ARMT1 Q9H993 VAR_053090 p.Lys73Asn LB/B rs35036943 - ARMT1 Q9H993 VAR_053091 p.Gly150Glu LB/B rs35734927 - ARMT1 Q9H993 VAR_053092 p.Ser154Ala LB/B rs34437617 - ARMT1 Q9H993 VAR_053093 p.His161Pro LB/B rs36037706 - ARMT1 Q9H993 VAR_053094 p.Ile264Val LB/B rs35989216 - ARMT1 Q9H993 VAR_053095 p.Ala317Thr LB/B rs35972078 - ARNT P27540 VAR_014819 p.Asp511Asn LB/B rs1805133 - ARNT P27540 VAR_018906 p.Asp517Glu LB/B rs10305741 - ARNT P27540 VAR_020189 p.Pro706Leu LB/B rs2275237 - ARNT P27540 VAR_024280 p.Arg430Gln LB/B rs2229175 - ARNT2 Q9HBZ2 VAR_049538 p.Gly679Ser LB/B rs4072568 - ARNT2 Q9HBZ2 VAR_076841 p.Arg46Trp LB/B rs140468271 - ARNT2 Q9HBZ2 VAR_076842 p.Arg107His LB/B rs371290912 - ARNT2 Q9HBZ2 VAR_076843 p.Arg402Gln LB/B rs141193900 - ARNT2 Q9HBZ2 VAR_076844 p.Trp410Arg LB/B rs150964641 - ARPC1B O15143 VAR_014477 p.Lys37Asn LB/B rs1045012 - ARPC1B O15143 VAR_080353 p.Ala105Val US - Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia (IMD71) [MIM:617718] ARPC1B O15143 VAR_080354 p.Ala238Thr US rs147238850 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia (IMD71) [MIM:617718] ARPC4 P59998 VAR_087805 p.Arg158Cys LP/P - Developmental delay, language impairment, and ocular abnormalities (DEVLO) [MIM:620141] ARR3 P36575 VAR_025520 p.Leu44Phe LB/B rs11548182 - ARR3 P36575 VAR_080595 p.Leu80Pro US rs1555941116 Myopia 26, X-linked, female-limited (MYP26) [MIM:301010] ARR3 P36575 VAR_080597 p.Ala298Asp US rs765658563 Myopia 26, X-linked, female-limited (MYP26) [MIM:301010] ARRDC1 Q8N5I2 VAR_048335 p.Gly363Cys LB/B rs35018943 - ARRDC2 Q8TBH0 VAR_026895 p.Arg181His LB/B rs17852061 - ARRDC2 Q8TBH0 VAR_026896 p.Arg192His LB/B rs17852062 - ARRDC2 Q8TBH0 VAR_026897 p.Ala244Thr LB/B rs8110271 - ARRDC2 Q8TBH0 VAR_026898 p.Leu396Pro LB/B rs7259041 - ARRDC4 Q8NCT1 VAR_026899 p.Thr79Ala LB/B rs12101554 - ARRDC4 Q8NCT1 VAR_026900 p.Pro347Ser LB/B rs17856817 - ARRDC4 Q8NCT1 VAR_026901 p.Ser358Pro LB/B rs2130882 - ARSA P15289 VAR_007243 p.Leu76Pro LB/B rs199476362 - ARSA P15289 VAR_007244 p.Pro82Leu LP/P rs6151411 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007245 p.Arg84Gln LP/P rs74315458 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007246 p.Gly86Asp LP/P rs74315460 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007247 p.Ser95Asn LP/P rs199476363 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007248 p.Ser96Phe LP/P rs74315456 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007249 p.Ser96Leu LP/P rs199476371 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007250 p.Gly99Asp LP/P rs74315455 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007251 p.Gly119Arg LP/P rs199476364 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007252 p.Gly122Ser LP/P rs74315461 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007253 p.Leu135Pro LP/P rs121434215 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007254 p.Pro136Leu LP/P rs74315462 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007255 p.Asp152Tyr LP/P rs199476365 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007256 p.Gly154Asp LP/P rs74315463 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007257 p.Pro155Arg LP/P rs74315464 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007258 p.Pro167Arg LP/P rs74315465 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007259 p.Asp169Asn LP/P rs74315466 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007260 p.Cys172Tyr LP/P rs199476381 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007261 p.Ile179Ser LP/P rs74315457 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007262 p.Trp193Cys LB/B rs6151415 - ARSA P15289 VAR_007263 p.Tyr201Cys LP/P rs199476345 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007264 p.Ala212Val LP/P rs74315467 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007265 p.Ala224Val LP/P rs74315468 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007266 p.Pro231Thr LP/P rs74315469 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007267 p.Arg244Cys LP/P rs74315470 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007268 p.Arg244His LP/P rs199476366 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007269 p.Gly245Arg LP/P rs74315471 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007270 p.Ser250Tyr LP/P rs199476367 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007271 p.Thr274Met LP/P rs74315472 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007272 p.Arg288Cys LP/P rs74315473 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007273 p.Ser295Tyr LP/P rs74315474 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007274 p.Gly309Ser LP/P rs74315459 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007275 p.Arg311Gln LP/P rs199476382 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007276 p.Ala314Thr LP/P rs199476368 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007277 p.Asp335Val LP/P rs74315475 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007278 p.Asn350Ser LB/B rs2071421 - ARSA P15289 VAR_007279 p.Lys367Asn LP/P rs199476369 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007280 p.Arg370Gln LP/P rs74315477 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007281 p.Arg370Trp LP/P rs74315476 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007282 p.Pro377Leu LP/P rs74315478 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007283 p.Glu382Lys LP/P rs74315479 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007284 p.Arg384Cys LP/P rs199476370 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007285 p.Arg390Gln LP/P rs199476391 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007286 p.Arg390Trp LP/P rs74315480 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007287 p.Thr391Ser LB/B rs743616 - ARSA P15289 VAR_007288 p.His397Tyr LP/P rs199476376 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007291 p.Pro426Leu LP/P rs28940893 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007292 p.Ala464Val LB/B - - ARSA P15289 VAR_007293 p.Arg496His LB/B rs6151428 - ARSA P15289 VAR_008132 p.Cys300Phe LP/P rs74315484 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_008133 p.Pro425Thr LP/P rs74315485 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_018838 p.Phe356Val LB/B rs6151422 - ARSA P15289 VAR_018839 p.Asn440Ser LB/B rs6151427 - ARSA P15289 VAR_054164 p.Ala18Asp LP/P rs199476339 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054165 p.Asp29Asn LP/P rs199476346 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054166 p.Asp30His LP/P rs199476340 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054167 p.Gly32Ser LP/P rs199476350 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054168 p.Leu68Pro LP/P rs199476351 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054169 p.Arg84Trp LP/P rs199476352 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054170 p.Pro94Ala LP/P rs199476353 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054171 p.Gly99Val LP/P rs74315455 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054172 p.Pro136Ser LP/P rs60504011 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054174 p.Arg143Gly LP/P rs199476373 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054175 p.Pro148Leu LP/P rs199476375 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054176 p.Gln153His LP/P rs199476377 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054177 p.Pro155Leu LP/P rs74315464 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054178 p.Cys156Arg LP/P rs199476348 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054179 p.Leu181Gln LP/P rs199476378 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054180 p.Gln190His LP/P rs199476372 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054181 p.Pro191Thr LP/P rs199476374 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054182 p.Ala212Pro LP/P rs199476341 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054183 p.Arg217His LP/P rs148403406 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054184 p.Phe219Val LP/P rs199476383 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054185 p.His227Tyr LP/P rs199476354 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054186 p.Phe247Ser LP/P rs199476384 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054187 p.Glu253Lys LP/P rs74315483 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054188 p.Asp255His LP/P rs80338819 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054189 p.Asp281Tyr LP/P rs199476386 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054190 p.Asn282Ser LP/P rs199476342 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054191 p.Thr286Pro LP/P rs28940894 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054192 p.Arg288His LP/P rs199476355 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054193 p.Gly293Asp LP/P rs199476387 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054194 p.Gly293Ser LP/P rs199476349 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054195 p.Cys294Tyr LP/P rs199476347 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054196 p.Leu298Ser LP/P rs199476389 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054197 p.Lys302Asn LP/P rs199476343 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054198 p.Tyr306His LP/P rs199476379 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054199 p.Gly308Asp LP/P rs199476356 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054200 p.Gly308Val LP/P rs199476356 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054201 p.Glu312Asp LP/P rs199476390 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054202 p.Gly325Ser LP/P rs148092995 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054203 p.Thr327Ile LP/P - Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054204 p.Tyr376Asn LP/P rs199476344 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054205 p.Asp381Glu US rs6151425 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054206 p.Thr408Ile LP/P rs28940895 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054207 p.Thr409Ile LP/P rs74315481 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054208 p.Leu428Pro LP/P rs199476392 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054209 p.Tyr429Ser LP/P rs199476380 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054210 p.Ala469Gly LP/P rs199476385 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054211 p.Cys489Gly LP/P rs199476388 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_067414 p.Leu52Pro LP/P rs199476357 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_067415 p.His138Asp LP/P rs199476358 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_067416 p.Thr304Met LP/P rs199476359 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_067417 p.Glu307Lys LP/P rs199476360 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_067418 p.Ser406Gly LP/P rs199476361 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSB P15848 VAR_007294 p.Thr92Met LP/P rs751010538 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007295 p.Arg95Gln LP/P rs118203942 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007296 p.Cys117Arg LP/P rs118203939 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007297 p.Gly137Val LP/P rs118203938 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007298 p.Arg152Trp LP/P rs991104525 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007299 p.Arg160Gln LP/P rs1196325597 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007300 p.Tyr210Cys LP/P rs118203943 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007301 p.Leu236Pro LP/P rs118203940 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007302 p.Gly302Arg LP/P rs779378413 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007303 p.Val376Met LB/B rs1071598 - ARSB P15848 VAR_007304 p.His393Pro LP/P rs118203944 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007305 p.Cys405Tyr LP/P rs118203941 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007306 p.Leu498Pro LP/P rs774358117 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_016061 p.Val358Met LB/B rs1065757 - ARSB P15848 VAR_019017 p.Ser65Phe LP/P rs1233331806 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019019 p.Pro116His LP/P rs775780931 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019020 p.Met142Ile LP/P rs1554088053 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019021 p.Gly144Arg LP/P rs746206847 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019022 p.Trp146Leu LP/P rs1554088034 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019023 p.Trp146Arg LP/P rs1554088037 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019024 p.Trp146Ser LP/P rs1554088034 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019025 p.Cys192Arg LP/P rs1554087423 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019026 p.Gln239Arg LP/P rs1554086431 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019027 p.Trp312Cys LP/P rs759384989 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019028 p.Arg315Gln LP/P rs727503809 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019029 p.Leu321Pro LP/P rs1554079320 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019030 p.Ser384Asn LB/B rs25414 - ARSB P15848 VAR_019031 p.Phe399Leu LP/P rs200793396 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019032 p.Arg484Gly LP/P rs201101343 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019033 p.Cys521Tyr LP/P rs1554069661 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019034 p.Pro531Arg LP/P rs1554069659 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_061883 p.Val358Leu LB/B rs1065757 - ARSB P15848 VAR_080270 p.Leu82Arg LP/P rs749465732 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSD P51689 VAR_052508 p.Ser224Cys LB/B rs211653 - ARSD P51689 VAR_052509 p.Val500Ile LB/B rs2229557 - ARSD P51689 VAR_052510 p.Met564Thr LB/B rs2228431 - ARSF P54793 VAR_058846 p.His527Tyr LB/B rs1052638 - ARSG Q96EG1 VAR_052511 p.Ala11Val LB/B rs8074806 - ARSG Q96EG1 VAR_052512 p.Thr236Ser LB/B rs1558876 - ARSG Q96EG1 VAR_052513 p.Trp274Arg LB/B rs1558878 - ARSG Q96EG1 VAR_052514 p.Arg385His LB/B rs9972951 - ARSG Q96EG1 VAR_074038 p.Arg326Gly LB/B rs144503106 - ARSG Q96EG1 VAR_074039 p.Arg398Trp LB/B rs11657051 - ARSG Q96EG1 VAR_074040 p.Thr444Met LB/B rs62000424 - ARSG Q96EG1 VAR_074041 p.Glu481Lys LB/B rs370852507 - ARSG Q96EG1 VAR_074042 p.Ile493Thr LB/B rs61999318 - ARSG Q96EG1 VAR_081577 p.Asp45Tyr LP/P - Usher syndrome 4 (USH4) [MIM:618144] ARSJ Q5FYB0 VAR_052515 p.Ser565Arg LB/B rs17046588 - ARSK Q6UWY0 VAR_052516 p.Gln525Arg LB/B rs17084927 - ARSK Q6UWY0 VAR_086963 p.Arg84Cys LP/P - Mucopolysaccharidosis 10 (MPS10) [MIM:619698] ARSL P51690 VAR_007307 p.Arg12Ser LP/P rs122460151 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSL P51690 VAR_007308 p.Arg111Pro LP/P rs122460153 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSL P51690 VAR_007309 p.Gly117Arg LP/P rs122460152 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSL P51690 VAR_007310 p.Gly137Val LP/P rs80338711 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSL P51690 VAR_007311 p.Gly245Arg LP/P rs122460154 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSL P51690 VAR_007312 p.Cys492Tyr LP/P rs122460155 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSL P51690 VAR_023570 p.Ile80Asn LP/P - Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSL P51690 VAR_023571 p.Thr481Met LP/P rs80338713 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSL P51690 VAR_023572 p.Pro578Ser LP/P rs28935474 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSL P51690 VAR_037974 p.Arg183His LB/B rs34412194 - ARSL P51690 VAR_037975 p.Gly424Ser LB/B rs35143646 - ART1 P52961 VAR_034125 p.Pro105Leu LB/B rs35123761 - ART1 P52961 VAR_034126 p.Pro126Arg LB/B rs35619488 - ART1 P52961 VAR_053526 p.Leu257Pro LB/B rs2280134 - ART3 Q13508 VAR_060072 p.Ser363Leu LB/B rs1128864 - ART3 Q13508 VAR_081146 p.Pro334Ser US rs143599971 - ART4 Q93070 VAR_013707 p.Gly108Val LB/B rs28362797 - ART4 Q93070 VAR_013708 p.Thr117Ile LB/B rs28362798 - ART4 Q93070 VAR_013709 p.Asp265Asn LB/B rs11276 - ART4 Q93070 VAR_013710 p.Leu300Val LB/B rs3088190 - ART4 Q93070 VAR_022266 p.Asp135Glu LB/B rs28362799 - ART4 Q93070 VAR_022267 p.Thr189Met LB/B rs28362800 - ARTN Q5T4W7 VAR_026718 p.Gln19Arg LB/B rs2242637 - ARV1 Q9H2C2 VAR_033525 p.Gly101Glu LB/B rs35764859 - ARV1 Q9H2C2 VAR_077051 p.Gly189Arg LP/P rs730882241 Developmental and epileptic encephalopathy 38 (DEE38) [MIM:617020] ARVCF O00192 VAR_020408 p.Val175Ala LB/B rs2240717 - ARVCF O00192 VAR_024692 p.Arg906Gln LB/B rs165815 - ARVCF O00192 VAR_033529 p.Pro220Leu LB/B rs2073748 - ARVCF O00192 VAR_033530 p.Arg909Trp LB/B rs34687532 - ARVCF O00192 VAR_033531 p.Arg909Gln LB/B rs34638476 - ARVCF O00192 VAR_033532 p.Arg912Trp LB/B rs34445280 - ARVCF O00192 VAR_053812 p.Arg539Gln LB/B rs16982871 - ARX Q96QS3 VAR_015178 p.Arg332His LP/P rs111033612 Lissencephaly, X-linked 2 (LISX2) [MIM:300215] ARX Q96QS3 VAR_015179 p.Leu343Gln LP/P rs104894741 Lissencephaly, X-linked 2 (LISX2) [MIM:300215] ARX Q96QS3 VAR_015180 p.Pro353Leu LP/P rs104894743 Developmental and epileptic encephalopathy 1 (DEE1) [MIM:308350] ARX Q96QS3 VAR_015669 p.Leu33Pro LP/P rs28936077 Intellectual developmental disorder, X-linked 29 (XLID29) [MIM:300419] ARX Q96QS3 VAR_015671 p.Gly286Ser LP/P rs28935479 Intellectual developmental disorder, X-linked 29 (XLID29) [MIM:300419] ARX Q96QS3 VAR_033260 p.Arg332Pro LP/P - Lissencephaly, X-linked 2 (LISX2) [MIM:300215] ARX Q96QS3 VAR_033261 p.Thr333Asn LP/P rs104894745 Agenesis of the corpus callosum, with abnormal genitalia (ACCAG) [MIM:300004] ARX Q96QS3 VAR_033262 p.Pro353Arg LP/P - Lissencephaly, X-linked 2 (LISX2) [MIM:300215] ARX Q96QS3 VAR_033263 p.Ala521Thr LP/P rs746120093 Lissencephaly, X-linked 2 (LISX2) [MIM:300215] ARX Q96QS3 VAR_088524 p.Ala370Val US - - AS3MT Q9HBK9 VAR_027392 p.Arg173Trp LB/B rs35232887 - AS3MT Q9HBK9 VAR_027393 p.Met287Thr LB/B rs11191439 - AS3MT Q9HBK9 VAR_027394 p.Thr306Ile LB/B rs34556438 - ASAH1 Q13510 VAR_008860 p.Val72Met LB/B rs1071645 - ASAH1 Q13510 VAR_008861 p.Ile93Val LB/B rs1049874 - ASAH1 Q13510 VAR_008862 p.Thr222Lys LP/P rs137853593 Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_021579 p.Tyr36Cys LP/P rs137853595 Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_021581 p.Val97Glu LP/P - Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_021582 p.Glu138Val LP/P rs137853594 Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_021583 p.Gly235Arg LP/P rs1554808625 Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_021584 p.Arg254Gly US - Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_021585 p.Asn320Asp LP/P rs137853596 Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_021586 p.Pro362Arg LP/P - Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_021587 p.Val369Ile LB/B rs17636067 - ASAH1 Q13510 VAR_038166 p.Gln22His LP/P - Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_038167 p.His23Asp LP/P - Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_038168 p.Asp124Glu LB/B rs2472205 - ASAH1 Q13510 VAR_038169 p.Leu182Val LP/P rs137853597 Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_038170 p.Val246Ala LB/B rs10103355 - ASAH1 Q13510 VAR_057979 p.Ala70Val LB/B rs10103355 - ASAH1 Q13510 VAR_057980 p.Val88Met LB/B rs1071645 - ASAH1 Q13510 VAR_068722 p.Thr42Met LP/P rs145873635 Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950] ASAH1 Q13510 VAR_071994 p.Val97Gly LP/P - Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_071995 p.Gly168Trp LP/P - Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_072247 p.Lys152Asn LP/P rs200455852 Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950] ASAH1 Q13510 VAR_081279 p.Thr42Ala US rs779888892 Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950] ASAH1 Q13510 VAR_081280 p.Trp169Arg US rs756455049 Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_081282 p.Arg333Cys US rs543697946 Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH2 Q9NR71 VAR_027064 p.Thr51Ala LB/B rs7067625 - ASAH2 Q9NR71 VAR_027065 p.Ala346Ser LB/B rs1052952953 - ASAP1 Q9ULH1 VAR_055528 p.Ile728Val LB/B rs966185 - ASAP2 O43150 VAR_020307 p.Glu748Asp LB/B rs2715860 - ASAP3 Q8TDY4 VAR_035612 p.Ala617Thr US - A colorectal cancer sample ASAP3 Q8TDY4 VAR_048295 p.Glu377Ala LB/B rs16828486 - ASB10 Q8WXI3 VAR_022090 p.Arg453Cys LB/B rs3800791 - ASB10 Q8WXI3 VAR_069867 p.Thr48Ser US rs151344615 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069868 p.Gly65Glu US rs104886491 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069869 p.Val67Met US rs151344616 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069870 p.Arg72His US rs104886488 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069871 p.Asp88Val LB/B rs151344617 - ASB10 Q8WXI3 VAR_069872 p.Asp91Tyr LB/B rs104886490 - ASB10 Q8WXI3 VAR_069873 p.Arg94Gln US rs147737381 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069874 p.Asp97Glu US rs151344619 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069875 p.Ala172Val LB/B rs151344604 - ASB10 Q8WXI3 VAR_069876 p.Arg183Cys US rs151344605 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069877 p.Arg189Trp LB/B rs104886473 - ASB10 Q8WXI3 VAR_069878 p.Ala197Val US rs151344607 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069879 p.Val207Leu US rs104886474 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069880 p.Arg237Gly LB/B rs61735708 - ASB10 Q8WXI3 VAR_069881 p.Arg272His US rs140602973 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069882 p.Gln295Leu US rs151344609 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069883 p.Arg304Cys LB/B rs61735130 - ASB10 Q8WXI3 VAR_069884 p.Ala320Thr US rs151344610 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069885 p.Thr329Met LB/B rs104886481 - ASB10 Q8WXI3 VAR_069886 p.His332Gln US rs104886482 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069887 p.His356Tyr US rs151344611 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069888 p.Arg360His US rs151344612 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069889 p.Arg372Cys LB/B rs62489646 - ASB10 Q8WXI3 VAR_069890 p.Pro402Thr LB/B rs919533 - ASB10 Q8WXI3 VAR_069891 p.Ser440Gly US rs104886487 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB11 Q8WXH4 VAR_048286 p.Asp249Asn LB/B rs34025595 - ASB11 Q8WXH4 VAR_048287 p.Ser263Gly LB/B rs35859007 - ASB11 Q8WXH4 VAR_069428 p.Ser165Leu LB/B rs144572145 - ASB15 Q8WXK1 VAR_060466 p.Pro57Leu LB/B rs6962756 - ASB15 Q8WXK1 VAR_060467 p.Gly357Ala LB/B rs4731112 - ASB16 Q96NS5 VAR_059127 p.Thr240Ile LB/B rs7224330 - ASB16 Q96NS5 VAR_064697 p.Thr173Pro US - - ASB16-AS1 Q495Z4 VAR_032127 p.Ser32Arg LB/B rs7217858 - ASB16-AS1 Q495Z4 VAR_061623 p.Cys114Arg LB/B rs7212573 - ASB17 Q8WXJ9 VAR_024174 p.Ser2Asn LB/B rs3795251 - ASB17 Q8WXJ9 VAR_048288 p.Val101Ala LB/B rs1796814 - ASB18 Q6ZVZ8 VAR_037331 p.Ala127Pro LB/B rs7588748 - ASB18 Q6ZVZ8 VAR_048289 p.Ala104Thr LB/B rs6756597 - ASB18 Q6ZVZ8 VAR_048290 p.His407Asn LB/B rs10177957 - ASB18 Q6ZVZ8 VAR_059128 p.Gly261Ser LB/B rs6431437 - ASB2 Q96Q27 VAR_022089 p.Pro208Ser LB/B rs2295213 - ASB4 Q9Y574 VAR_033512 p.Val17Leu LB/B rs35047380 - ASCC1 Q8N9N2 VAR_061278 p.Asp34Asn LB/B rs11558719 - ASCC1 Q8N9N2 VAR_066588 p.Asn318Ser LB/B rs146370051 - ASCC2 Q9H1I8 VAR_019464 p.Arg509Gln LB/B rs4823054 - ASCC2 Q9H1I8 VAR_025512 p.Asp407His LB/B rs28265 - ASCC2 Q9H1I8 VAR_025513 p.Pro423Ser LB/B rs36571 - ASCC2 Q9H1I8 VAR_025514 p.Arg639Leu LB/B rs6006259 - ASCC2 Q9H1I8 VAR_050675 p.Arg96Cys LB/B rs1894473 - ASCC2 Q9H1I8 VAR_050676 p.Val123Ile LB/B rs11549795 - ASCC2 Q9H1I8 VAR_050677 p.Asp546Gly LB/B rs34833047 - ASCC2 Q9H1I8 VAR_050678 p.Glu588Lys LB/B rs34062345 - ASCC3 Q8N3C0 VAR_034859 p.Leu146Phe LB/B rs9390698 - ASCC3 Q8N3C0 VAR_034860 p.Val1050Ile LB/B rs9497983 - ASCC3 Q8N3C0 VAR_034861 p.Cys1800Trp LB/B rs35011147 - ASCC3 Q8N3C0 VAR_034862 p.Val1930Met LB/B rs3213542 - ASCC3 Q8N3C0 VAR_034863 p.Ser1995Cys LB/B rs240780 - ASCC3 Q8N3C0 VAR_034864 p.Tyr2176Cys LB/B rs240768 - ASCC3 Q8N3C0 VAR_049339 p.Glu344Lys LB/B rs6918004 - ASCC3 Q8N3C0 VAR_049340 p.Asn478Ser LB/B rs7750940 - ASCC3 Q8N3C0 VAR_049341 p.Val1425Ala LB/B rs17246013 - ASCC3 Q8N3C0 VAR_049342 p.Arg1497Thr LB/B rs17305382 - ASCC3 Q8N3C0 VAR_061212 p.Ser1016Cys LB/B rs57534235 - ASCL1 P50553 VAR_013179 p.Glu158Gly LB/B rs1803157 - ASCL3 Q9NQ33 VAR_055948 p.Arg55Leu LB/B rs4909951 - ASGR2 P07307 VAR_068747 p.Gly85Arg LB/B rs2304978 - ASH1L Q9NR48 VAR_028949 p.Thr1771Ala LB/B rs4971053 - ASH1L Q9NR48 VAR_055905 p.Ser1416Pro LB/B rs13373934 - ASH1L Q9NR48 VAR_069405 p.Ser277Gly LB/B rs186255422 - ASH1L Q9NR48 VAR_069406 p.Ala724Ser US rs1293246328 Intellectual developmental disorder, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_069407 p.Lys972Arg US - Intellectual developmental disorder, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_069408 p.Tyr1276His US rs539982914 Intellectual developmental disorder, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_069409 p.Cys1775Trp US rs753734834 Intellectual developmental disorder, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_069410 p.Asp2853Gly US - Intellectual developmental disorder, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_080559 p.Val2085Ile US rs749494995 Intellectual developmental disorder, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_080561 p.Arg2396His US rs753029013 Intellectual developmental disorder, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_080562 p.Ala2791Pro LP/P rs1553241570 Intellectual developmental disorder, autosomal dominant 52 (MRD52) [MIM:617796] ASH2L Q9UBL3 VAR_050679 p.Ser478Phe LB/B rs34167006 - ASIC2 Q16515 VAR_052036 p.Asp354Gly LB/B rs16967895 - ASIC3 Q9UHC3 VAR_052037 p.Asn228Ser LB/B rs1864545 - ASIC4 Q96FT7 VAR_052038 p.Pro506Gln LB/B rs6436153 - ASIC4 Q96FT7 VAR_052039 p.Arg508Leu LB/B rs11689281 - ASIC4 Q96FT7 VAR_059806 p.Val511Ala LB/B rs11695248 - ASIP P42127 VAR_005003 p.Gln61Pro LB/B rs1129414 - ASIP P42127 VAR_022125 p.Val13Ala LB/B rs2296151 - ASL P04424 VAR_000676 p.Arg95Cys LP/P rs28940585 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_000677 p.Arg111Trp LP/P rs138310841 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_000678 p.Arg193Gln LP/P rs373697663 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_000679 p.Gln286Arg LP/P rs28941472 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_017572 p.Val178Met LP/P rs28941473 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_017573 p.Arg379Cys LP/P rs28940287 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_017574 p.Arg385Cys LP/P rs28940286 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_036281 p.Thr181Ser US - A breast cancer sample ASL P04424 VAR_036282 p.Gly200Val US - A breast cancer sample ASL P04424 VAR_043106 p.Asp31Asn LP/P rs754995756 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043107 p.Arg113Gln LP/P rs752783461 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043108 p.Arg186Gln LP/P rs752397242 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043109 p.Arg236Trp LP/P rs761268464 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043110 p.Val335Leu LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043111 p.Met382Arg LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043112 p.Arg456Trp LP/P rs759396688 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072186 p.Val70Ala LP/P rs1027739421 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072187 p.Arg94Cys LP/P rs374304304 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072188 p.Arg94His LP/P rs777437569 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072189 p.Arg95His LP/P rs150244667 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072190 p.Ala104Val LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072191 p.Asp120Glu LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072192 p.Leu121His LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072193 p.Arg126Trp LP/P rs201962738 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072194 p.Arg146Trp LP/P rs199938613 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072195 p.Pro156Arg LP/P rs769017508 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072196 p.His160Asn LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072197 p.Pro166His LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072198 p.Arg168His LP/P rs727503811 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072199 p.Ser170Asn LP/P rs1180650883 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072200 p.Leu180Arg LP/P rs1057141162 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072201 p.Arg182Gln LP/P rs751590073 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072202 p.Arg191Trp LP/P rs143508372 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072203 p.Arg193Trp LP/P rs1428029508 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072204 p.Ala205Val LP/P rs796051925 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072205 p.Arg213Gln LP/P rs1449589636 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072206 p.Leu227Pro LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072207 p.Ser229Arg LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072208 p.Ser229Thr LP/P rs1554327272 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072209 p.Asp231Glu LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072210 p.Asp237Asn LP/P rs552951774 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072211 p.Met256Thr LP/P rs149057077 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072212 p.Leu262Pro LP/P rs1554327586 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072213 p.Leu295Pro LP/P rs1369337876 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072214 p.Gly301Arg LP/P rs1161412459 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072215 p.Arg306Trp LP/P rs868834862 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072216 p.Asp324Ala LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072217 p.Gln326Leu LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072218 p.Leu343Phe LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072219 p.Leu343Pro LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072220 p.Met368Val LP/P rs1554328202 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072221 p.Lys380Glu LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072222 p.Arg385His LP/P rs746120802 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072223 p.Arg385Leu LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072224 p.His388Gln LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072225 p.Ser433Arg LP/P rs796051928 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072226 p.Val434Leu LP/P rs773071023 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072227 p.Ser447Asn LP/P rs373519615 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072228 p.Arg456Gln LP/P rs767271619 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_075551 p.Glu73Lys LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_075552 p.Arg297Gln LP/P rs750431938 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_085825 p.Arg12Gln LP/P rs145138923 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_085826 p.Asp87Gly LP/P rs752100894 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_085827 p.Met360Thr LP/P rs875989948 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_085828 p.Ala398Asp LP/P - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASMT P46597 VAR_045991 p.Asn17Lys LB/B rs17149149 - ASMT P46597 VAR_069111 p.Asn13His LB/B rs121918819 - ASMT P46597 VAR_069112 p.Glu61Gln LB/B rs121918823 - ASMT P46597 VAR_069114 p.Lys81Glu LB/B rs117343570 - ASMT P46597 VAR_069115 p.Arg115Trp LB/B rs201053197 - ASMT P46597 VAR_069116 p.Gly151Ser LB/B rs192710293 - ASMT P46597 VAR_069117 p.Val166Ile LB/B rs373339042 - ASMT P46597 VAR_069118 p.Val171Met LB/B rs121918820 - ASMT P46597 VAR_069119 p.Val179Gly LB/B rs1215166326 - ASMT P46597 VAR_069120 p.Asp210Gly LB/B rs121918824 - ASMT P46597 VAR_069121 p.Ile211Met LB/B rs201316181 - ASMT P46597 VAR_069122 p.Thr217Met LB/B rs148036160 - ASMT P46597 VAR_069123 p.Lys219Arg LB/B rs121918825 - ASMT P46597 VAR_069125 p.Pro243Leu LB/B rs121918826 - ASMT P46597 VAR_069126 p.Ile269Met LB/B rs146121655 - ASMT P46597 VAR_069127 p.Cys273Ser LB/B rs121918827 - ASMT P46597 VAR_069128 p.Gly278Ala LB/B rs1188440875 - ASMT P46597 VAR_069129 p.Glu288Asp LB/B rs121918821 - ASMT P46597 VAR_069130 p.Arg291Gln LB/B rs121918828 - ASMT P46597 VAR_069131 p.Leu298Phe US rs121918822 - ASMT P46597 VAR_069132 p.Val305Met US - - ASMTL O95671 VAR_054802 p.Val458Met LB/B rs4503285 - ASMTL O95671 VAR_054803 p.Arg541Lys LB/B rs1127297 - ASNS P08243 VAR_023443 p.Val210Glu LB/B rs1049674 - ASNS P08243 VAR_070896 p.Ala6Glu LP/P rs398122975 Asparagine synthetase deficiency (ASNSD) [MIM:615574] ASNS P08243 VAR_070897 p.Phe362Val LP/P rs398122973 Asparagine synthetase deficiency (ASNSD) [MIM:615574] ASNS P08243 VAR_070898 p.Arg550Cys LP/P rs398122974 Asparagine synthetase deficiency (ASNSD) [MIM:615574] ASNSD1 Q9NWL6 VAR_039876 p.Gly190Arg LB/B rs1437880 - ASNSD1 Q9NWL6 VAR_039877 p.Met434Thr LB/B rs35137531 - ASPA P45381 VAR_004995 p.Ile143Thr LP/P rs777936704 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_004996 p.Cys152Arg LP/P rs104894548 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_004998 p.Gly274Arg LP/P rs761064915 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_004999 p.Glu285Ala LP/P rs28940279 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_005000 p.Phe295Ser LP/P - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_005001 p.Ala305Glu LP/P rs28940574 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016778 p.His21Pro LP/P - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016779 p.Ala57Thr LP/P - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016780 p.Arg168His LP/P rs770706390 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016781 p.Pro181Thr LP/P rs786204572 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016782 p.Glu24Gly LP/P rs104894551 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016783 p.Asp68Ala LP/P - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016784 p.Asp114Tyr LP/P rs1446467099 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016785 p.Cys152Trp LP/P - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016786 p.Tyr231Cys LP/P rs104894550 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016787 p.His244Arg LP/P rs1057516995 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016788 p.Asp249Val LP/P rs104894552 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039079 p.Ile16Thr LP/P rs769653717 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039080 p.Gly27Arg LP/P rs766328537 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039081 p.Asp114Glu LP/P - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039082 p.Gly123Glu LP/P rs1057521115 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039083 p.Cys152Tyr LP/P - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039084 p.Arg168Cys LP/P rs937670540 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039085 p.Pro183His LP/P rs1555539857 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039086 p.Val186Phe LP/P - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039087 p.Met195Arg LP/P - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039088 p.Pro280Leu LP/P rs1555541310 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039089 p.Pro280Ser LP/P rs750505963 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039090 p.Ala287Thr LP/P rs774323189 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039091 p.Cys310Gly LB/B rs376854191 - ASPA P45381 VAR_078086 p.Glu24Lys LP/P - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078087 p.Leu30Pro LP/P rs1555538144 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078088 p.Ala57Val LP/P rs1555538148 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078089 p.Arg63Thr LP/P rs1555538151 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078090 p.Leu69Arg LP/P rs776777887 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078091 p.Gly101Val LP/P - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078092 p.Glu129Lys LP/P rs773049803 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078093 p.Ile170Thr LP/P rs144321760 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078094 p.Ile177Thr LP/P - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078095 p.Gly180Val LP/P rs1014551540 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078096 p.Asp204His LP/P - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078097 p.Gln248Arg LP/P - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078098 p.Ala286Asp LP/P rs1414684396 Canavan disease (CAND) [MIM:271900] ASPDH A6ND91 VAR_062676 p.Gln266Arg LB/B rs12977172 - ASPG Q86U10 VAR_059131 p.Cys95Arg LB/B rs1770984 - ASPG Q86U10 VAR_059132 p.Leu96Val LB/B rs1744284 - ASPG Q86U10 VAR_059133 p.Ser344Arg LB/B rs8012505 - ASPH Q12797 VAR_053781 p.Arg354Met LB/B rs6995412 - ASPH Q12797 VAR_071821 p.Arg735Trp LP/P rs374385878 Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB) [MIM:601552] ASPHD2 Q6ICH7 VAR_060123 p.Asn235Ser LB/B rs34902186 - ASPM Q8IZT6 VAR_019084 p.Ser2562Gly LB/B rs41310927 - ASPM Q8IZT6 VAR_019085 p.Leu2647Ile LB/B rs3762271 - ASPM Q8IZT6 VAR_019086 p.Leu3132Arg LB/B rs36004306 - ASPM Q8IZT6 VAR_024369 p.Arg430Gly LB/B rs6428388 - ASPM Q8IZT6 VAR_046758 p.Thr869Ser LB/B rs7551108 - ASPM Q8IZT6 VAR_046759 p.Ser1090Phe LB/B rs16841081 - ASPM Q8IZT6 VAR_046760 p.Tyr2494His LB/B rs964201 - ASPM Q8IZT6 VAR_046761 p.Gln2620His LB/B rs12138336 - ASPM Q8IZT6 VAR_046762 p.His3258Arg LB/B rs7528827 - ASPM Q8IZT6 VAR_047263 p.Ile313Val LB/B rs12025066 - ASPM Q8IZT6 VAR_071930 p.Asn2526Asp LB/B rs587783267 - ASPM Q8IZT6 VAR_071931 p.Gln3180Pro LB/B rs193251130 - ASPRV1 Q53RT3 VAR_051508 p.Thr49Ala LB/B rs3796097 - ASPRV1 Q53RT3 VAR_084554 p.Lys199Glu LP/P - Ichthyosis, lamellar, autosomal dominant (ADLI) [MIM:146750] ASPRV1 Q53RT3 VAR_084555 p.Arg311Pro LP/P - Ichthyosis, lamellar, autosomal dominant (ADLI) [MIM:146750] ASPRV1 Q53RT3 VAR_084556 p.Pro314Thr LP/P - Ichthyosis, lamellar, autosomal dominant (ADLI) [MIM:146750] ASPSCR1 Q9BZE9 VAR_027503 p.Leu252Gln LB/B rs8074498 - ASPSCR1 Q9BZE9 VAR_027504 p.Asp487Glu LB/B rs13087 - ASPSCR1 Q9BZE9 VAR_034745 p.Val318Met LB/B rs34085048 - ASRGL1 Q7L266 VAR_081118 p.Gly178Arg US - - ASS1 P00966 VAR_000681 p.Gly14Ser LP/P rs121908636 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000682 p.Ser18Leu LP/P rs121908643 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000683 p.Arg86Cys LP/P rs121908644 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000684 p.Ala118Thr LP/P rs775305020 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000685 p.Arg157His LP/P rs121908637 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000686 p.Ser180Asn LP/P rs121908638 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000687 p.Ala192Val LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000688 p.Arg272Cys LP/P rs762387914 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000689 p.Gly280Arg LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000690 p.Arg304Trp LP/P rs121908642 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000691 p.Gly324Ser LP/P rs121908639 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000692 p.Arg363Leu LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000693 p.Arg363Trp LP/P rs121908640 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000694 p.Gly390Arg LP/P rs121908641 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015891 p.Cys19Arg LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015892 p.Arg86His LP/P rs575001023 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015893 p.Arg95Ser LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015894 p.Pro96Ser LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015895 p.Gly117Ser LP/P rs770944877 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015896 p.Gly117Asp LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015897 p.Arg157Cys LP/P rs770585183 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015898 p.Trp179Arg LP/P rs121908646 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015899 p.Glu191Lys LP/P rs777828000 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015900 p.Arg265His LP/P rs398123131 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015901 p.Val269Met LP/P rs370595480 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015902 p.Glu283Lys LP/P rs765338121 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015903 p.Lys310Arg LP/P rs199751308 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015904 p.Gly362Val LP/P rs121908647 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016007 p.Glu270Gln LP/P rs775163147 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016008 p.Arg279Gln LP/P rs371265106 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016009 p.Lys310Gln LP/P rs121908648 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016010 p.Arg363Gly LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016011 p.Arg363Gln LP/P rs771937610 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016012 p.Thr389Ile LP/P rs1474017319 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016013 p.Val69Ala LP/P rs771594651 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016014 p.Arg108Leu LP/P rs35269064 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016015 p.Thr119Ile LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058337 p.Gln40Leu LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058338 p.Ser79Pro LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058339 p.Pro96His LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058340 p.Asp124Asn LP/P rs936192871 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058341 p.Arg127Gln LP/P rs201623252 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058342 p.Arg127Trp LP/P rs771794639 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058343 p.Leu160Pro LP/P rs969835605 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058344 p.Tyr190Asp LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058345 p.Glu191Gln LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058346 p.Ala202Glu LP/P rs376371866 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058347 p.Leu206Pro LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058348 p.Val263Met LP/P rs192838388 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058349 p.Arg265Cys LP/P rs148918985 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058350 p.Lys277Thr LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058351 p.Thr284Ile LP/P rs886039853 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058352 p.Tyr291Ser LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058353 p.Asp296Gly LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058354 p.Met302Val LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058355 p.Arg307Cys LP/P rs183276875 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058356 p.Gly324Val LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058357 p.Ser341Phe LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058358 p.Val345Gly LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058359 p.Gly347Arg LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058360 p.Tyr359Asp LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_072792 p.Val141Gly LP/P rs1184442048 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078388 p.Val64Ile US rs556297791 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078389 p.Thr91Pro LP/P rs769018733 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078390 p.Pro96Leu LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078392 p.Arg100Cys LP/P rs370695114 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078393 p.Arg100His LP/P rs138279074 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078394 p.Ala111Asp LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078395 p.Gly117Cys LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078396 p.Arg127Leu LB/B rs201623252 - ASS1 P00966 VAR_078398 p.Arg157Ser LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078400 p.Ala164Pro LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078401 p.Ser180Ile LP/P rs121908638 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078402 p.Asn184Lys LP/P rs368192467 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078403 p.Gly230Arg LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078404 p.Asn237Ile LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078405 p.Ala258Pro LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078406 p.Ala258Val LP/P rs753078725 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078407 p.Arg272His LP/P rs768215008 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078408 p.Arg272Leu LP/P rs768215008 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078411 p.Leu290Pro LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078412 p.Ala299Asp LP/P rs768394647 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078413 p.Val306Gly LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078415 p.Val321Met LP/P rs727503813 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078416 p.Arg335His LP/P rs555388438 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078417 p.Cys337Arg LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078419 p.Gly356Val LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078422 p.Thr389Pro LP/P - Citrullinemia 1 (CTLN1) [MIM:215700] ASTL Q6HA08 VAR_033491 p.Gln222Arg LB/B rs749458 - ASTL Q6HA08 VAR_057063 p.Lys277Gln LB/B rs1657502 - ASTL Q6HA08 VAR_061734 p.Arg204His LB/B rs41320144 - ASTN1 O14525 VAR_036764 p.Gly1270Arg LB/B rs12118933 - ASTN1 O14525 VAR_055713 p.Arg1278Gly LB/B rs12118933 - ASTN1 O14525 VAR_069030 p.His932Arg LB/B rs2228956 - ASTN1 O14525 VAR_069031 p.His942Gln LB/B rs2281180 - ASTN2 O75129 VAR_036765 p.Val70Ile LB/B rs16933591 - ASTN2 O75129 VAR_036766 p.Arg865His LB/B rs3818503 - ASTN2 O75129 VAR_036767 p.Val1149Ile LB/B rs16933591 - ASTN2 O75129 VAR_036768 p.Val1293Leu US - A breast cancer sample ASTN2 O75129 VAR_064699 p.Ala229Val US - - ASTN2 O75129 VAR_084650 p.Asp298His US - - ASXL1 Q8IXJ9 VAR_028157 p.Pro815Leu LB/B rs6058694 - ASXL1 Q8IXJ9 VAR_028158 p.Leu1325Phe LB/B rs6057581 - ASXL1 Q8IXJ9 VAR_051602 p.Val751Ile LB/B rs6058693 - ASXL1 Q8IXJ9 VAR_051603 p.Leu983Arg LB/B rs34359205 - ASXL2 Q76L83 VAR_037773 p.Leu731Pro LB/B rs13385963 - ASXL2 Q76L83 VAR_037774 p.Ala796Val LB/B rs17854251 - ASXL2 Q76L83 VAR_037775 p.Thr1210Pro LB/B rs12991178 - ASXL2 Q76L83 VAR_037776 p.Thr1242Pro LB/B rs12990978 - ASXL3 Q9C0F0 VAR_039267 p.Asn954Ser LB/B rs2282632 - ASXL3 Q9C0F0 VAR_039268 p.Met1415Arg LB/B rs16964887 - ASXL3 Q9C0F0 VAR_039269 p.Val1652Met LB/B rs17746949 - ASXL3 Q9C0F0 VAR_039270 p.Met1708Val LB/B rs7232237 - ASZ1 Q8WWH4 VAR_024175 p.Lys216Thr LB/B rs1029396 - ATAD1 Q8NBU5 VAR_035903 p.Val107Ile US - A colorectal cancer sample ATAD1 Q8NBU5 VAR_080830 p.Gln54His US rs1554884979 Hyperekplexia 4 (HKPX4) [MIM:618011] ATAD2 Q6PL18 VAR_047625 p.Ile1280Thr LB/B rs3758122 - ATAD2B Q9ULI0 VAR_055467 p.Ser118Pro LB/B rs10210982 - ATAD3A Q9NVI7 VAR_023526 p.Gly15Asp LB/B rs2274435 - ATAD3A Q9NVI7 VAR_055468 p.Ser101Asn LB/B rs1619896 - ATAD3A Q9NVI7 VAR_082788 p.Thr53Ile LP/P rs1057517687 Harel-Yoon syndrome (HAYOS) [MIM:617183] ATAD3A Q9NVI7 VAR_082789 p.Arg576Trp LP/P rs1057517686 Harel-Yoon syndrome (HAYOS) [MIM:617183] ATAD3A Q9NVI7 VAR_083867 p.Leu77Arg LP/P rs1570319915 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL) [MIM:618810] ATAD3A Q9NVI7 VAR_083869 p.Leu454Arg LP/P rs1570345942 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL) [MIM:618810] ATAD3B Q5T9A4 VAR_048120 p.Val7Ile LB/B rs1240504 - ATAD5 Q96QE3 VAR_038572 p.Thr35Ser LB/B rs9910051 - ATAD5 Q96QE3 VAR_038573 p.Pro87Ser LB/B rs3816780 - ATAD5 Q96QE3 VAR_038574 p.Glu135Gly LB/B rs11080134 - ATAD5 Q96QE3 VAR_038575 p.Arg249Lys LB/B rs17826219 - ATAD5 Q96QE3 VAR_038576 p.Asn699His LB/B rs3764421 - ATAD5 Q96QE3 VAR_038577 p.Tyr1419His LB/B rs11657270 - ATAD5 Q96QE3 VAR_079496 p.Asp215Asn LB/B rs367699401 - ATCAY Q86WG3 VAR_017164 p.Ser301Arg LP/P - Cerebellar ataxia, cayman type (ATCAY) [MIM:601238] ATF1 P18846 VAR_024382 p.Pro191Ala LB/B rs2230674 - ATF2 P15336 VAR_035999 p.Asp352His US - A breast cancer sample ATF3 P18847 VAR_048442 p.Thr38Met LB/B rs11571541 - ATF3 P18847 VAR_081532 p.Asn168Thr US - - ATF4 P18848 VAR_014768 p.Glu322Asp LB/B rs1803324 - ATF4 P18848 VAR_028253 p.Gln22Pro LB/B rs4894 - ATF4 P18848 VAR_029259 p.Pro258Ala LB/B rs1803323 - ATF5 Q9Y2D1 VAR_022786 p.Pro121Leu LB/B rs283526 - ATF6 P18850 VAR_022455 p.Met67Leu LB/B rs1058405 - ATF6 P18850 VAR_022456 p.Met67Val LB/B rs1058405 - ATF6 P18850 VAR_022457 p.Ala145Pro LB/B rs2070150 - ATF6 P18850 VAR_022458 p.Pro157Ser LB/B rs1135983 - ATF6 P18850 VAR_075681 p.Arg324Cys LP/P rs761357250 Achromatopsia 7 (ACHM7) [MIM:616517] ATF6 P18850 VAR_075682 p.Tyr567Asn LP/P rs796065053 Achromatopsia 7 (ACHM7) [MIM:616517] ATF7IP Q6VMQ6 VAR_031283 p.Glu278Lys LB/B rs2231908 - ATF7IP Q6VMQ6 VAR_031284 p.Asn348Ile LB/B rs2231909 - ATF7IP Q6VMQ6 VAR_031285 p.Lys530Arg LB/B rs3213764 - ATF7IP2 Q5U623 VAR_031286 p.Thr537Ile LB/B rs9932051 - ATF7IP2 Q5U623 VAR_031287 p.Ala543Thr LB/B rs9931441 - ATF7IP2 Q5U623 VAR_053872 p.Ser527Leu LB/B rs34834862 - ATG10 Q9H0Y0 VAR_021562 p.Thr212Met LB/B rs1864183 - ATG10 Q9H0Y0 VAR_021563 p.Pro220His LB/B rs1864182 - ATG10 Q9H0Y0 VAR_024370 p.Ser62Pro LB/B rs3734114 - ATG14 Q6ZNE5 VAR_049514 p.Asn131Lys LB/B rs17675076 - ATG14 Q6ZNE5 VAR_061240 p.Val59Ile LB/B rs57295720 - ATG16L1 Q676U5 VAR_021834 p.Thr300Ala LB/B rs2241880 - ATG16L1 Q676U5 VAR_053386 p.Glu307Lys LB/B rs1866878 - ATG16L2 Q8NAA4 VAR_043605 p.Arg220Trp LB/B rs11235604 - ATG2A Q2TAZ0 VAR_038158 p.Val175Ile LB/B rs12293826 - ATG2A Q2TAZ0 VAR_038159 p.Ala627Val LB/B rs2285347 - ATG2A Q2TAZ0 VAR_038160 p.Gly948Arg LB/B rs11827140 - ATG2A Q2TAZ0 VAR_061027 p.Arg394Cys LB/B rs35115827 - ATG2A Q2TAZ0 VAR_061028 p.Ala404Val LB/B rs60711419 - ATG2A Q2TAZ0 VAR_061029 p.Pro656Arg LB/B rs656195 - ATG2B Q96BY7 VAR_021523 p.Gln1383Glu LB/B rs3759601 - ATG2B Q96BY7 VAR_023096 p.Ile1567Thr LB/B rs2289622 - ATG2B Q96BY7 VAR_045956 p.Asn1124Asp LB/B rs9323945 - ATG4B Q9Y4P1 VAR_021486 p.Leu354Gln LB/B rs7601000 - ATG4D Q86TL0 VAR_085353 p.Arg125Leu US rs1216040637 - ATG4D Q86TL0 VAR_085354 p.Val273Ile US rs145807760 - ATG4D Q86TL0 VAR_085355 p.Ala295Asp US rs1261979779 - ATG4D Q86TL0 VAR_085356 p.Val395Met US rs201291151 - ATG5 Q9H1Y0 VAR_036243 p.Lys58Met US - A colorectal cancer sample ATG5 Q9H1Y0 VAR_079274 p.Glu122Asp LP/P rs1131692265 Spinocerebellar ataxia, autosomal recessive, 25 (SCAR25) [MIM:617584] ATG7 O95352 VAR_053014 p.Val471Ala LB/B rs36117895 - ATG7 O95352 VAR_085979 p.Pro234Thr LP/P - Spinocerebellar ataxia, autosomal recessive, 31 (SCAR31) [MIM:619422] ATG7 O95352 VAR_085980 p.Gln261Arg US - Spinocerebellar ataxia, autosomal recessive, 31 (SCAR31) [MIM:619422] ATG7 O95352 VAR_085981 p.Gly511Asp LP/P - Spinocerebellar ataxia, autosomal recessive, 31 (SCAR31) [MIM:619422] ATG7 O95352 VAR_085982 p.Leu512Pro LP/P - Spinocerebellar ataxia, autosomal recessive, 31 (SCAR31) [MIM:619422] ATG7 O95352 VAR_085983 p.Arg576His LP/P - Spinocerebellar ataxia, autosomal recessive, 31 (SCAR31) [MIM:619422] ATG7 O95352 VAR_085984 p.Val588Met LP/P - Spinocerebellar ataxia, autosomal recessive, 31 (SCAR31) [MIM:619422] ATG7 O95352 VAR_085985 p.His624Tyr LP/P - Spinocerebellar ataxia, autosomal recessive, 31 (SCAR31) [MIM:619422] ATG9A Q7Z3C6 VAR_021835 p.Ser592Gly LB/B rs2276635 - ATG9A Q7Z3C6 VAR_055534 p.Gln659His LB/B rs2276634 - ATG9B Q674R7 VAR_061030 p.Pro166Leu LB/B rs61078191 - ATIC P31939 VAR_019306 p.Thr116Ser LB/B rs2372536 - ATIC P31939 VAR_019307 p.Lys426Arg LP/P rs121434478 AICA-ribosuria due to ATIC deficiency (AICAR) [MIM:608688] ATL1 Q8WXF7 VAR_017146 p.Arg217Gln LP/P rs119476049 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_017147 p.Arg239Cys LP/P rs119476046 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_017148 p.His258Arg LP/P rs119476048 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_017149 p.Ser259Tyr LP/P rs119476047 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_019446 p.Ala161Pro LP/P - Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_019447 p.His247Pro LP/P - Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_058963 p.Asp43Glu LB/B rs17850684 - ATL1 Q8WXF7 VAR_058964 p.Phe193Cys LB/B rs17850683 - ATL1 Q8WXF7 VAR_065508 p.Glu66Gln LP/P rs200314808 Neuropathy, hereditary sensory, 1D (HSN1D) [MIM:613708] ATL1 Q8WXF7 VAR_065509 p.Leu157Trp LP/P rs119476051 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_065510 p.Asn355Lys LP/P rs1555365597 Neuropathy, hereditary sensory, 1D (HSN1D) [MIM:613708] ATL1 Q8WXF7 VAR_065511 p.Met408Val LP/P rs28939094 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_065512 p.Arg415Trp LP/P rs119476050 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_067655 p.Gln154Glu LP/P - Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_067656 p.Tyr196Cys US rs1555364246 - ATL1 Q8WXF7 VAR_067657 p.Val253Ile LP/P rs864622520 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_067658 p.Phe413Val LP/P - Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_067659 p.Asn440Thr LP/P - Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_067660 p.Arg495Trp LP/P rs864622269 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_071708 p.Arg415Gln LP/P rs397514712 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_071709 p.Arg416Cys LP/P rs387906941 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_071874 p.Arg118Gln LP/P rs606231265 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL2 Q8NHH9 VAR_032265 p.Trp18Arg LB/B rs3731847 - ATL2 Q8NHH9 VAR_032266 p.Asn272Ser LB/B rs34873284 - ATL2 Q8NHH9 VAR_032267 p.Asp420His LB/B rs7582826 - ATL3 Q6DD88 VAR_070973 p.Tyr192Cys LP/P rs587777108 Neuropathy, hereditary sensory, 1F (HSN1F) [MIM:615632] ATM Q13315 VAR_010798 p.Ser49Cys LP/P rs1800054 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010799 p.Asp126Glu LB/B rs2234997 - ATM Q13315 VAR_010800 p.Val182Leu LB/B rs3218707 - ATM Q13315 VAR_010801 p.Lys224Glu US rs145053092 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010802 p.Pro292Leu LP/P rs747727055 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010803 p.Ile323Val LP/P rs587781511 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010804 p.Tyr332Cys US - B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010805 p.Ala350Thr US rs371713984 B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010806 p.Ile352Thr US rs369203092 B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010807 p.Gly514Asp LB/B rs2235000 - ATM Q13315 VAR_010808 p.Phe570Ser LP/P rs777301065 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010810 p.Ser707Pro LB/B rs4986761 - ATM Q13315 VAR_010812 p.Asn768Asp LP/P - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010813 p.Arg785Cys LP/P rs587778065 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010814 p.Phe858Leu LB/B rs1800056 - ATM Q13315 VAR_010815 p.Leu950Arg LP/P rs786203054 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010816 p.Leu1001Gln LP/P - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010817 p.Met1040Val US rs3092857 - ATM Q13315 VAR_010818 p.Pro1054Arg LP/P rs1800057 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010819 p.His1082Leu US - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010820 p.Glu1091Asp LP/P - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010821 p.Ile1407Thr US rs1234250980 T-prolymphocytic leukemia ATM Q13315 VAR_010822 p.Leu1420Phe LB/B rs1800058 - ATM Q13315 VAR_010823 p.Leu1420Pro LP/P - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010825 p.Phe1463Ser US - - ATM Q13315 VAR_010826 p.Leu1465Pro LP/P rs730881391 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010827 p.Pro1566Arg LP/P - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010828 p.Val1570Ala LB/B rs140856217 - ATM Q13315 VAR_010829 p.Asp1682His US rs121434217 T-prolymphocytic leukemia ATM Q13315 VAR_010830 p.Ser1691Arg US rs1800059 B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010830 p.Ser1691Arg US rs1800059 Familial cancer patients ATM Q13315 VAR_010830 p.Ser1691Arg LP/P rs1800059 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010831 p.Thr1743Ile LP/P rs587779844 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010833 p.Asp1853Asn LB/B rs1801516 - ATM Q13315 VAR_010834 p.Asp1853Val LB/B rs1801673 - ATM Q13315 VAR_010835 p.Leu1910His US - T-prolymphocytic leukemia ATM Q13315 VAR_010836 p.Val1913Gly LP/P rs1060501688 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010837 p.Thr1953Arg US - B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010838 p.Asp2016Gly US rs587781302 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010839 p.Gly2063Glu US rs866290641 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010840 p.Ala2067Asp LP/P rs397514577 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010841 p.Val2079Ile LB/B rs1800060 - ATM Q13315 VAR_010842 p.Glu2139Gly US - T-prolymphocytic leukemia ATM Q13315 VAR_010843 p.Glu2164Lys US rs1317619286 T-prolymphocytic leukemia ATM Q13315 VAR_010844 p.Ser2218Cys LP/P - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010846 p.Arg2227Cys US rs564652222 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010848 p.Ala2274Thr US rs567060474 B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010849 p.Gly2287Ala US rs1800061 - ATM Q13315 VAR_010850 p.Thr2396Ser US rs370559102 - ATM Q13315 VAR_010852 p.Ala2420Pro US - B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010853 p.Glu2423Gly US rs121434221 Mantle cell lymphoma ATM Q13315 VAR_010854 p.Val2424Gly LP/P rs28904921 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010856 p.Thr2438Ile LB/B rs147604227 - ATM Q13315 VAR_010857 p.Gln2442Pro US - T-prolymphocytic leukemia ATM Q13315 VAR_010858 p.Tyr2470Asp LP/P rs876659365 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010859 p.Arg2486Gly US - T-prolymphocytic leukemia ATM Q13315 VAR_010860 p.Trp2491Arg LP/P - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010862 p.His2554Asp LP/P - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010863 p.Asp2625Gln LP/P - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010865 p.Leu2656Pro LP/P rs121434218 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010868 p.Glu2668Gly US - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010869 p.Gly2695Ala US - B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010869 p.Gly2695Ala US - T-prolymphocytic leukemia ATM Q13315 VAR_010870 p.Ile2702Arg LP/P rs876659735 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010871 p.Leu2722Arg US - T-prolymphocytic leukemia ATM Q13315 VAR_010872 p.Asp2725Gly US rs1555128314 - ATM Q13315 VAR_010873 p.Asp2725Val US - T-prolymphocytic leukemia ATM Q13315 VAR_010874 p.Ala2726Val US - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010875 p.Phe2732Leu US rs876659619 T-prolymphocytic leukemia ATM Q13315 VAR_010876 p.Gly2765Ser LB/B rs748634900 - ATM Q13315 VAR_010878 p.Cys2824Tyr LP/P rs876660927 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010879 p.Phe2827Cys LP/P rs121434216 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010880 p.Pro2829Leu LP/P rs938431501 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010881 p.Arg2832Cys LP/P rs587779872 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010882 p.Arg2849Pro LP/P rs587782202 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010883 p.Ser2855Arg US rs780905851 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010886 p.Gly2867Arg LP/P - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010888 p.Leu2890Val US rs587779874 T-prolymphocytic leukemia ATM Q13315 VAR_010889 p.Glu2904Gly LP/P rs786202826 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010890 p.Arg2909Gly LP/P - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010892 p.Ala3006Pro US rs876658767 - ATM Q13315 VAR_010893 p.Arg3008Cys LP/P rs587782292 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010894 p.Arg3008His US rs587781894 B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010895 p.Lys3018Asn US - B-cell chronic lymphocytic leukemia ATM Q13315 VAR_041545 p.Arg23Gln US rs587779858 A colorectal adenocarcinoma sample ATM Q13315 VAR_041546 p.Asp140His LB/B rs55633650 - ATM Q13315 VAR_041547 p.Arg250Gln LB/B rs56123940 - ATM Q13315 VAR_041548 p.Ser333Phe LB/B rs28904919 - ATM Q13315 VAR_041549 p.Arg337Cys US rs138398778 A colorectal adenocarcinoma sample ATM Q13315 VAR_041550 p.Arg337His US rs202160435 A colorectal adenocarcinoma sample ATM Q13315 VAR_041551 p.Val410Ala LB/B rs56128736 - ATM Q13315 VAR_041552 p.Asn504Ser LB/B rs56365018 - ATM Q13315 VAR_041553 p.Cys540Tyr US - A colorectal adenocarcinoma sample ATM Q13315 VAR_041554 p.Leu546Val LB/B rs2227924 - ATM Q13315 VAR_041555 p.Phe582Leu LB/B rs2235006 - ATM Q13315 VAR_041556 p.Glu848Gln US rs879254046 A lung adenocarcinoma sample ATM Q13315 VAR_041557 p.Pro872Ser LB/B rs3218673 - ATM Q13315 VAR_041558 p.Arg924Trp US rs55723361 - ATM Q13315 VAR_041559 p.Thr935Ala LB/B rs35813135 - ATM Q13315 VAR_041560 p.Ser1179Phe US - A gastric adenocarcinoma sample ATM Q13315 VAR_041561 p.Met1321Ile LB/B rs35184530 - ATM Q13315 VAR_041562 p.His1380Tyr LB/B rs3092856 - ATM Q13315 VAR_041563 p.Pro1382Ser LB/B rs55859590 - ATM Q13315 VAR_041564 p.Ile1469Met US rs775047783 A renal papillary cancer sample ATM Q13315 VAR_041565 p.Tyr1475Cys LB/B rs34640941 - ATM Q13315 VAR_041566 p.Asn1650Ser LB/B rs55870064 - ATM Q13315 VAR_041567 p.Asn1739Thr US - A colorectal adenocarcinoma sample ATM Q13315 VAR_041568 p.Met1916Ile US - A breast pleomorphic lobular carcinoma sample ATM Q13315 VAR_041569 p.Ala1945Thr US - A colorectal adenocarcinoma sample ATM Q13315 VAR_041570 p.Tyr1961Cys US rs56399311 - ATM Q13315 VAR_041571 p.Ser1983Asn LB/B rs659243 - ATM Q13315 VAR_041572 p.Glu1991Asp US rs587782274 A renal clear cell carcinoma sample ATM Q13315 VAR_041573 p.Leu2307Phe US rs56009889 - ATM Q13315 VAR_041574 p.Leu2332Pro LB/B rs4988111 - ATM Q13315 VAR_041575 p.Ile2356Phe US rs876658517 A renal clear cell carcinoma sample ATM Q13315 VAR_041576 p.Ser2408Leu US rs730881315 A colorectal adenocarcinoma sample ATM Q13315 VAR_041577 p.Arg2443Gln US rs587782310 A colorectal adenocarcinoma sample ATM Q13315 VAR_041578 p.Cys2464Arg US rs55801750 - ATM Q13315 VAR_041579 p.Leu2492Arg LB/B rs56399857 - ATM Q13315 VAR_041580 p.Thr2666Ala US rs745775382 A lung adenocarcinoma sample ATM Q13315 VAR_041581 p.Arg2719His US rs55982963 - ATM Q13315 VAR_041582 p.Pro2842Arg US rs879254065 A lung adenocarcinoma sample ATM Q13315 VAR_041583 p.Asp2870Asn LB/B rs55798854 - ATM Q13315 VAR_056678 p.Arg45Trp US rs3218684 - ATM Q13315 VAR_056679 p.Thr761Ser LB/B rs2235011 - ATM Q13315 VAR_056680 p.Ser788Arg LB/B rs641252 - ATM Q13315 VAR_056681 p.Asp814Glu LB/B rs3218695 - ATM Q13315 VAR_056682 p.Thr935Met LB/B rs3218708 - ATM Q13315 VAR_056683 p.Leu942Phe LB/B rs3218688 - ATM Q13315 VAR_056684 p.Glu1313Gln LB/B rs3092841 - ATM Q13315 VAR_056685 p.Ala1427Thr LB/B rs2229021 - ATM Q13315 VAR_056686 p.Leu1541Phe LB/B rs3092849 - ATM Q13315 VAR_056687 p.Val1729Leu LB/B rs3092907 - ATM Q13315 VAR_056688 p.Arg2034Gln LB/B rs3218670 - ATM Q13315 VAR_056689 p.Thr2335Lys LB/B rs3092831 - ATM Q13315 VAR_056690 p.Glu2570Gly LB/B rs28904920 - ATM Q13315 VAR_056691 p.Thr2640Ile LB/B rs4988125 - ATM Q13315 VAR_056692 p.Gly2709Ser LB/B rs3218680 - ATM Q13315 VAR_077237 p.Leu1046Pro LP/P rs568461905 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_077238 p.Gly2023Arg LP/P rs11212587 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_077239 p.Leu2068Ser LP/P rs1555114558 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_077240 p.Tyr2080Asp LP/P rs1064795467 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_077241 p.Tyr2627His LP/P - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_077242 p.Phe2834Leu LP/P - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_077243 p.Asn3003Asp LP/P rs1137889 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_080300 p.Leu1322Ile LB/B rs144535256 - ATM Q13315 VAR_083373 p.Ile68Val US - - ATM Q13315 VAR_083374 p.Val341Ile US - - ATM Q13315 VAR_083375 p.Pro597Leu US - - ATM Q13315 VAR_083376 p.Asp661Ala US - - ATM Q13315 VAR_083377 p.Glu699Gly US - - ATM Q13315 VAR_083378 p.Ser759Gly US - - ATM Q13315 VAR_083379 p.Asn813Ser US - - ATM Q13315 VAR_083380 p.Ala869Gly US - - ATM Q13315 VAR_083381 p.Phe897Ile US - - ATM Q13315 VAR_083382 p.Leu1255Val US - - ATM Q13315 VAR_083383 p.His1474Asp US - - ATM Q13315 VAR_083384 p.Leu1488Val US - - ATM Q13315 VAR_083385 p.Arg2105Thr US - - ATM Q13315 VAR_083386 p.Ala2524Pro US - - ATM Q13315 VAR_083387 p.Met2531Thr US - - ATM Q13315 VAR_083388 p.Lys2810Gln US - - ATM Q13315 VAR_083389 p.Arg2832His US - - ATM Q13315 VAR_083390 p.Pro2974Leu US - - ATM Q13315 VAR_083391 p.Gly3029Asp US - - ATM Q13315 VAR_083392 p.Val3056Leu US - - ATM Q13315 VAR_085068 p.Asp2625Glu US rs1196903858 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_085069 p.Ala2626Pro US rs267606669 Ataxia telangiectasia (AT) [MIM:208900] ATMIN O43313 VAR_050681 p.Ser240Pro LB/B rs2278022 - ATMIN O43313 VAR_050682 p.Lys305Glu LB/B rs2278023 - ATN1 P54259 VAR_030937 p.Met339Ile LB/B rs1058045 - ATN1 P54259 VAR_083058 p.His1054Asn LP/P - Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) [MIM:618494] ATN1 P54259 VAR_083059 p.His1058Tyr LP/P - Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) [MIM:618494] ATN1 P54259 VAR_083062 p.His1060Tyr LP/P - Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) [MIM:618494] ATN1 P54259 VAR_083063 p.His1062Asp LP/P - Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) [MIM:618494] ATN1 P54259 VAR_083064 p.His1062Arg LP/P - Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) [MIM:618494] ATN1 P54259 VAR_083065 p.Leu1063Arg LP/P - Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) [MIM:618494] ATOH1 Q92858 VAR_049539 p.His237Gln LB/B rs35182771 - ATOH7 Q8N100 VAR_072398 p.Asn46His LP/P rs587777666 Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900] ATOH7 Q8N100 VAR_072399 p.Ala47Thr US - - ATOH7 Q8N100 VAR_072400 p.Glu49Val LP/P rs587777664 Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900] ATOH7 Q8N100 VAR_072401 p.Arg65Gly LB/B rs111699024 - ATOH7 Q8N100 VAR_085728 p.Arg42Pro US - Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900] ATOH7 Q8N100 VAR_085729 p.Ala59Thr US rs138274069 - ATOH7 Q8N100 VAR_085730 p.Ala59Val US rs754494518 - ATOH8 Q96SQ7 VAR_039582 p.Leu150Pro LB/B rs17851881 - ATOSA Q32MH5 VAR_038258 p.Gln135Arg LB/B rs8036680 - ATOSA Q32MH5 VAR_038259 p.Val560Ile LB/B rs12915981 - ATP10A O60312 VAR_022004 p.Thr532Met LB/B rs2066703 - ATP10A O60312 VAR_022005 p.Ala784Thr LB/B rs2066704 - ATP10A O60312 VAR_022006 p.Trp1172Cys LB/B rs2076742 - ATP10A O60312 VAR_022007 p.Ala1179Thr LB/B rs2076744 - ATP10A O60312 VAR_022008 p.Ile1188Val LB/B rs2076745 - ATP10A O60312 VAR_022009 p.Arg1298Ser LB/B rs3816800 - ATP10A O60312 VAR_048380 p.Ser353Tyr LB/B rs17116056 - ATP10A O60312 VAR_048381 p.Glu834Lys LB/B rs17555920 - ATP10A O60312 VAR_048382 p.Val1198Met LB/B rs2076746 - ATP10A O60312 VAR_048383 p.Ala1397Val LB/B rs9324127 - ATP10A O60312 VAR_061038 p.Arg504His LB/B rs56724944 - ATP10A O60312 VAR_078700 p.Arg208Trp US rs763246380 - ATP10B O94823 VAR_048384 p.Cys217Arg LB/B rs958912 - ATP10B O94823 VAR_084141 p.Asn105Ser US rs184217288 - ATP10B O94823 VAR_084143 p.Thr161Asn US rs73306687 - ATP10B O94823 VAR_084144 p.Gly393Trp LB/B rs149397148 - ATP10B O94823 VAR_084145 p.Ala558Val US rs770267845 - ATP10B O94823 VAR_084146 p.Gly648Arg US rs188580726 - ATP10B O94823 VAR_084147 p.Gly671Arg US rs61734666 - ATP10B O94823 VAR_084148 p.Val748Leu US rs192890224 - ATP10B O94823 VAR_084149 p.Asn865Lys US rs61734665 - ATP10B O94823 VAR_084150 p.Glu993Ala US rs761562566 - ATP10B O94823 VAR_084151 p.Ile1038Thr US - - ATP10B O94823 VAR_084152 p.Ile1222Thr US rs144497343 - ATP10B O94823 VAR_084153 p.Leu1421Phe US rs61734664 - ATP10B O94823 VAR_084190 p.Val219Met US rs139187738 - ATP10B O94823 VAR_084191 p.Ile540Thr US rs56340994 - ATP10D Q9P241 VAR_020187 p.Val1240Ile LB/B rs1058793 - ATP10D Q9P241 VAR_024371 p.Ser1389Thr LB/B rs4145944 - ATP10D Q9P241 VAR_048385 p.Thr43Ile LB/B rs33995001 - ATP10D Q9P241 VAR_048386 p.Cys171Arg LB/B rs7683838 - ATP10D Q9P241 VAR_048387 p.Thr320Ile LB/B rs35596623 - ATP10D Q9P241 VAR_048388 p.Ala337Thr LB/B rs35012290 - ATP10D Q9P241 VAR_048389 p.Asn511Ser LB/B rs10003238 - ATP10D Q9P241 VAR_048390 p.Phe522Leu LB/B rs6843325 - ATP10D Q9P241 VAR_048391 p.Pro716Thr LB/B rs34208443 - ATP10D Q9P241 VAR_048392 p.Asn720Ser LB/B rs34169638 - ATP10D Q9P241 VAR_048393 p.Ser959Asn LB/B rs17462252 - ATP10D Q9P241 VAR_048394 p.Arg1183Lys LB/B rs16851681 - ATP10D Q9P241 VAR_048395 p.Ala1392Gly LB/B rs35375547 - ATP11A P98196 VAR_048379 p.Val1091Ile LB/B rs11616795 - ATP11A P98196 VAR_059139 p.Met317Val LB/B rs368865 - ATP11A P98196 VAR_087099 p.Gln84Glu LP/P - Leukodystrophy, hypomyelinating, 24 (HLD24) [MIM:619851] ATP11C Q8NB49 VAR_021827 p.Cys114Trp LB/B rs2491014 - ATP11C Q8NB49 VAR_036501 p.Thr157Ile US - A colorectal cancer sample ATP11C Q8NB49 VAR_036502 p.Gln931Pro US - A colorectal cancer sample ATP11C Q8NB49 VAR_055546 p.Tyr522Cys LB/B rs17281983 - ATP11C Q8NB49 VAR_061036 p.Val972Met LB/B rs55724992 - ATP11C Q8NB49 VAR_081016 p.Thr418Asn LP/P rs1556323334 Hemolytic anemia, congenital, X-linked (HACXL) [MIM:301015] ATP12A P54707 VAR_020186 p.Pro863Leu LB/B rs2289909 - ATP13A1 Q9HD20 VAR_084651 p.Glu349Lys US - - ATP13A2 Q9NQ11 VAR_058451 p.Thr12Met LP/P rs151117874 Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_058452 p.Gly49Ser LB/B rs56379718 - ATP13A2 Q9NQ11 VAR_058453 p.Arg294Gln LB/B rs56367069 - ATP13A2 Q9NQ11 VAR_058454 p.Pro389Leu LB/B rs56275621 - ATP13A2 Q9NQ11 VAR_058455 p.Gly504Arg LP/P rs121918227 Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_058456 p.Gly533Arg LP/P - Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_058457 p.Val578Gly LB/B rs56186751 - ATP13A2 Q9NQ11 VAR_058458 p.Ala746Thr LP/P rs147277743 Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_058459 p.Arg762Trp LB/B rs55635527 - ATP13A2 Q9NQ11 VAR_058460 p.Val776Ile LB/B rs56170027 - ATP13A2 Q9NQ11 VAR_058461 p.Ile946Phe LB/B rs55708915 - ATP13A2 Q9NQ11 VAR_066019 p.Phe182Leu LP/P - Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_066020 p.Gly877Arg LP/P rs144701072 Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_066021 p.Leu1059Arg LP/P rs137853967 Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_070194 p.Met854Arg LP/P rs587777053 Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_078055 p.Thr517Ile LP/P rs1057519291 Spastic paraplegia 78, autosomal recessive (SPG78) [MIM:617225] ATP13A2 Q9NQ11 VAR_078056 p.Gly522Val US - Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_083537 p.Ile441Phe US rs772446950 Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_083538 p.Ala1069Thr US rs774238872 Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A3 Q9H7F0 VAR_087461 p.Arg743Cys LP/P - Pulmonary hypertension, primary, 5 (PPH5) [MIM:265400] ATP13A3 Q9H7F0 VAR_087462 p.Val855Met US - Pulmonary hypertension, primary, 5 (PPH5) [MIM:265400] ATP13A4 Q4VNC1 VAR_038849 p.Ile181Met LB/B rs6788448 - ATP13A4 Q4VNC1 VAR_038850 p.Val353Ala LB/B - - ATP13A4 Q4VNC1 VAR_038851 p.Glu646Asp LB/B rs35424709 - ATP13A5 Q4VNC0 VAR_043614 p.Glu133Gln LB/B rs6797429 - ATP13A5 Q4VNC0 VAR_043615 p.Gly739Ser LB/B rs2280268 - ATP13A5 Q4VNC0 VAR_043616 p.Ile1053Val LB/B rs6787746 - ATP13A5 Q4VNC0 VAR_043617 p.Val1131Ala LB/B rs2271791 - ATP13A5 Q4VNC0 VAR_043618 p.Lys1204Gln LB/B rs7428010 - ATP13A5 Q4VNC0 VAR_061039 p.Ser96Tyr LB/B rs12637558 - ATP1A1 P05023 VAR_048374 p.Ser47Ile LB/B rs12564026 - ATP1A1 P05023 VAR_081039 p.Leu48Arg LP/P rs1553190285 Charcot-Marie-Tooth disease, axonal, 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081040 p.Ile592Thr US rs1553192086 Charcot-Marie-Tooth disease, axonal, 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081041 p.Ala597Thr US - Charcot-Marie-Tooth disease, axonal, 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081042 p.Pro600Ala LP/P rs1553192091 Charcot-Marie-Tooth disease, axonal, 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081043 p.Pro600Thr US rs1553192091 Charcot-Marie-Tooth disease, axonal, 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081044 p.Asp601Phe US - Charcot-Marie-Tooth disease, axonal, 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081045 p.Asp811Ala LP/P rs1553192783 Charcot-Marie-Tooth disease, axonal, 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081937 p.Leu302Arg LP/P - Hypomagnesemia, seizures, and impaired intellectual development 2 (HOMGSMR2) [MIM:618314] ATP1A1 P05023 VAR_081938 p.Gly303Arg LP/P rs1557785503 Hypomagnesemia, seizures, and impaired intellectual development 2 (HOMGSMR2) [MIM:618314] ATP1A1 P05023 VAR_081939 p.Met859Arg LP/P rs781629728 Hypomagnesemia, seizures, and impaired intellectual development 2 (HOMGSMR2) [MIM:618314] ATP1A2 P50993 VAR_019934 p.Thr378Asn LP/P rs28934002 Alternating hemiplegia of childhood 1 (AHC1) [MIM:104290] ATP1A2 P50993 VAR_019935 p.Arg689Gln LP/P rs28933401 Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_019936 p.Met731Thr LP/P rs28933400 Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_019937 p.Leu764Pro LP/P rs28933398 Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_019938 p.Trp887Arg LP/P rs28933399 Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_065685 p.Gly715Arg LP/P rs1553245771 Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_069991 p.Gly874Ser LP/P rs1651959213 Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_069992 p.Arg1007Trp LP/P rs746795369 Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_078231 p.Gly366Ala LP/P rs1057518514 Developmental and epileptic encephalopathy 98 (DEE98) [MIM:619605] ATP1A2 P50993 VAR_078232 p.Arg593Trp LP/P rs886039530 Developmental and epileptic encephalopathy 98 (DEE98) [MIM:619605] ATP1A2 P50993 VAR_086441 p.Ile293Met LP/P rs1553244746 Developmental and epileptic encephalopathy 98 (DEE98) [MIM:619605] ATP1A2 P50993 VAR_086442 p.Cys341Phe LP/P rs1057521630 Developmental and epileptic encephalopathy 98 (DEE98) [MIM:619605] ATP1A2 P50993 VAR_086443 p.Arg593Gln LB/B rs1553245178 - ATP1A2 P50993 VAR_086444 p.Arg908Gln LP/P - Developmental and epileptic encephalopathy 98 (DEE98) [MIM:619605] ATP1A3 P13637 VAR_026735 p.Ile274Thr LP/P rs80356532 Dystonia 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_026736 p.Glu277Lys LP/P rs80356533 Dystonia 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_026737 p.Thr613Met LP/P rs80356534 Dystonia 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_026738 p.Ile758Ser LP/P rs80356535 Dystonia 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_026739 p.Phe780Leu LP/P rs80356536 Dystonia 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_026740 p.Asp801Tyr LP/P rs80356537 Dystonia 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_068935 p.Ser137Phe LP/P rs542652468 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068936 p.Ser137Tyr LP/P rs542652468 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068937 p.Gln140Leu LP/P rs606231427 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068938 p.Asp220Asn LP/P rs1396898460 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068939 p.Ile274Asn LP/P rs80356532 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068940 p.Cys333Phe LP/P rs606231430 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068941 p.Gly755Ser LP/P rs557052809 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068942 p.Asn773Ser LP/P rs606231437 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068943 p.Asp801Asn LP/P rs80356537 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068943 p.Asp801Asn LP/P rs80356537 Developmental and epileptic encephalopathy 99 (DEE99) [MIM:619606] ATP1A3 P13637 VAR_068944 p.Met806Arg LP/P rs549006436 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068945 p.Ile810Ser LP/P rs536681257 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068946 p.Ser811Pro LP/P rs387907282 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068947 p.Glu815Lys LP/P rs387907281 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068949 p.Asp923Asn LP/P rs267606670 Dystonia 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_068950 p.Gly947Arg LP/P rs398122887 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068951 p.Ala955Asp LP/P rs606231446 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068952 p.Asp992Tyr LP/P rs606231447 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_070767 p.Val322Asp LP/P rs606231428 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_070768 p.Leu371Pro LP/P rs606231433 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_070769 p.Gly755Cys LP/P rs557052809 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_070770 p.Ser772Arg LP/P rs534926223 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_070771 p.Asn773Ile LP/P rs606231437 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_070772 p.Glu818Lys LP/P rs587777771 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) [MIM:601338] ATP1A3 P13637 VAR_070773 p.Asp923Tyr LP/P rs267606670 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_070774 p.Cys927Tyr LP/P rs606231444 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_078699 p.Ala320Thr LB/B rs879255368 - ATP1A3 P13637 VAR_086446 p.Leu292Arg LP/P - Developmental and epileptic encephalopathy 99 (DEE99) [MIM:619606] ATP1A3 P13637 VAR_086447 p.Gly316Val LP/P - Developmental and epileptic encephalopathy 99 (DEE99) [MIM:619606] ATP1A3 P13637 VAR_086448 p.Ser361Pro LP/P - Developmental and epileptic encephalopathy 99 (DEE99) [MIM:619606] ATP1A3 P13637 VAR_086449 p.Asp609Tyr LP/P - Developmental and epileptic encephalopathy 99 (DEE99) [MIM:619606] ATP1A3 P13637 VAR_086451 p.Pro775Arg LP/P - Developmental and epileptic encephalopathy 99 (DEE99) [MIM:619606] ATP1A3 P13637 VAR_086453 p.Asp887Tyr LP/P - Developmental and epileptic encephalopathy 99 (DEE99) [MIM:619606] ATP1A3 P13637 VAR_086454 p.Leu888Pro LP/P - Developmental and epileptic encephalopathy 99 (DEE99) [MIM:619606] ATP1A3 P13637 VAR_086455 p.Gly893Trp LP/P - Developmental and epileptic encephalopathy 99 (DEE99) [MIM:619606] ATP1A3 P13637 VAR_086456 p.Leu924Pro LP/P rs1555859157 Developmental and epileptic encephalopathy 99 (DEE99) [MIM:619606] ATP1A4 Q13733 VAR_048375 p.Gly83Asp LB/B rs6427504 - ATP1A4 Q13733 VAR_048376 p.Glu297Lys LB/B rs17368402 - ATP1A4 Q13733 VAR_048377 p.Met541Arg LB/B rs16831482 - ATP1A4 Q13733 VAR_048378 p.Met586Ile LB/B rs7528360 - ATP1B2 P14415 VAR_030339 p.Thr199Ala LB/B rs2227866 - ATP1B2 P14415 VAR_061031 p.Gln124Leu LB/B rs34745087 - ATP1B4 Q9UN42 VAR_055535 p.Val48Ala LB/B rs2072452 - ATP23 Q9Y6H3 VAR_054489 p.Ser48Cys LB/B rs3751325 - ATP2A1 O14983 VAR_015588 p.Pro789Leu LP/P rs121918115 Brody disease (BROD) [MIM:601003] ATP2A2 P16615 VAR_008608 p.Gly23Glu LP/P rs28929478 Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008609 p.Asn39Thr LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008611 p.Leu65Ser LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008612 p.Arg131Gln LP/P rs121912738 Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008613 p.Pro160Leu LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008614 p.Ser186Pro LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008615 p.Gly211Asp LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008616 p.Val223Met LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008617 p.Cys268Phe LP/P rs121912733 Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008618 p.Gly310Val LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008619 p.Cys318Arg LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008620 p.Ile348Thr LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008621 p.Glu412Gly LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008622 p.Ser495Phe LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008623 p.Cys560Arg LP/P rs121912734 Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008624 p.Phe675Ser LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008625 p.Lys683Glu LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008626 p.Asp702Asn LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008627 p.Ala745Asp LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008629 p.Ser765Leu LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008630 p.Asn767Ser LP/P rs121912732 Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008631 p.Gly769Arg LP/P rs121912736 Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008632 p.Ala803Thr LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008633 p.Ala838Pro LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008634 p.Val843Phe LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008635 p.Cys875Gly LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008636 p.Ser920Tyr LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008637 p.His943Arg LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008638 p.Pro975Arg LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_009508 p.Thr357Lys LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_009509 p.Gly749Arg LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_017532 p.Pro602Leu LP/P rs121912737 Acrokeratosis verruciformis (AKV) [MIM:101900] ATP2A2 P16615 VAR_079686 p.Asn101Ser LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_079688 p.Leu590Pro LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_079689 p.Gly625Ala LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_079690 p.Asp626Glu LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_079692 p.Ala672Pro LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_079693 p.Gln691Pro LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_079694 p.Arg750Trp LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_079695 p.Ser765Trp LP/P - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_079697 p.Leu900Pro LP/P - Darier disease (DD) [MIM:124200] ATP2A3 Q93084 VAR_036498 p.Arg674His US rs144535413 A breast cancer sample ATP2A3 Q93084 VAR_048372 p.Gln869His LB/B rs11654827 - ATP2B1 P20020 VAR_000698 p.Met267Arg LB/B - - ATP2B1 P20020 VAR_087433 p.Asp239Gly LP/P - Intellectual developmental disorder, autosomal dominant 66 (MRD66) [MIM:619910] ATP2B1 P20020 VAR_087434 p.Thr264Ile LP/P - Intellectual developmental disorder, autosomal dominant 66 (MRD66) [MIM:619910] ATP2B1 P20020 VAR_087435 p.Thr425Lys LP/P - Intellectual developmental disorder, autosomal dominant 66 (MRD66) [MIM:619910] ATP2B1 P20020 VAR_087436 p.His459Arg LP/P rs1879993052 Intellectual developmental disorder, autosomal dominant 66 (MRD66) [MIM:619910] ATP2B1 P20020 VAR_087438 p.Ile598Thr US - - ATP2B1 P20020 VAR_087439 p.Arg763Pro LP/P - Intellectual developmental disorder, autosomal dominant 66 (MRD66) [MIM:619910] ATP2B1 P20020 VAR_087440 p.Gly779Ser LB/B rs781703158 - ATP2B1 P20020 VAR_087441 p.Arg789Cys LP/P rs1161061134 Intellectual developmental disorder, autosomal dominant 66 (MRD66) [MIM:619910] ATP2B1 P20020 VAR_087442 p.Glu824Lys LP/P - Intellectual developmental disorder, autosomal dominant 66 (MRD66) [MIM:619910] ATP2B1 P20020 VAR_087443 p.Gln857Arg LP/P - Intellectual developmental disorder, autosomal dominant 66 (MRD66) [MIM:619910] ATP2B1 P20020 VAR_087445 p.Arg991Gln LP/P rs1433458409 Intellectual developmental disorder, autosomal dominant 66 (MRD66) [MIM:619910] ATP2B2 Q01814 VAR_084464 p.Gly293Ser US - - ATP2B2 Q01814 VAR_084465 p.Val631Met US - - ATP2B3 Q16720 VAR_027928 p.Ile198Met LB/B rs2269409 - ATP2B3 Q16720 VAR_069308 p.Gly1107Asp LP/P rs397514619 Spinocerebellar ataxia, X-linked 1 (SCAX1) [MIM:302500] ATP2B3 Q16720 VAR_084698 p.Arg482His LP/P - Spinocerebellar ataxia, X-linked 1 (SCAX1) [MIM:302500] ATP2C1 P98194 VAR_008803 p.Ala304Thr LP/P rs137853012 Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_008804 p.Leu318Pro LP/P - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_008805 p.Met641Arg LP/P - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_008806 p.Gly645Arg LP/P - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_008807 p.Thr709Met LP/P rs778865612 Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_008808 p.Pro744Arg LP/P - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_010130 p.Pro201Leu LP/P - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_010131 p.Cys344Tyr LP/P - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_010132 p.Thr570Ile LP/P - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_019523 p.Cys490Phe LP/P rs137853014 Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_019524 p.Leu584Pro LP/P rs137853015 Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022672 p.Gly309Cys LP/P - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022673 p.Leu341Pro LP/P - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022674 p.Cys411Arg LP/P - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022675 p.Ile580Val LP/P rs1282232888 Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022676 p.Asp742Tyr LP/P - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022677 p.Gly789Arg LP/P - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_048373 p.Ala450Thr LB/B rs41434650 - ATP2C1 P98194 VAR_079698 p.Gly220Glu LP/P - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_079699 p.Gly309Val LP/P rs1393570830 Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_079702 p.Ala731Asp LP/P - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C2 O75185 VAR_047935 p.Gly411Ser LB/B rs2303853 - ATP2C2 O75185 VAR_047936 p.Met466Leu LB/B rs247897 - ATP2C2 O75185 VAR_047937 p.Leu907Pro LB/B rs16973859 - ATP2C2 O75185 VAR_059137 p.Leu165Met LB/B rs247818 - ATP2C2 O75185 VAR_070929 p.Leu604Gln LB/B rs62640926 - ATP4A P20648 VAR_019428 p.Val265Ala LB/B rs2733743 - ATP5F1A P25705 VAR_048369 p.Ala32Ser LB/B rs2228437 - ATP5F1A P25705 VAR_069769 p.Arg329Cys LP/P rs587776960 Mitochondrial complex V deficiency, nuclear type 4B (MC5DN4B) [MIM:615228] ATP5F1A P25705 VAR_071982 p.Tyr321Cys LP/P rs587777788 Combined oxidative phosphorylation deficiency 22 (COXPD22) [MIM:616045] ATP5F1A P25705 VAR_088541 p.Arg182Gln US - Mitochondrial complex V deficiency, nuclear type 4A (MC5DN4A) [MIM:620358] ATP5F1A P25705 VAR_088542 p.Arg207His LP/P - Mitochondrial complex V deficiency, nuclear type 4A (MC5DN4A) [MIM:620358] ATP5F1A P25705 VAR_088543 p.Ser346Phe US - Mitochondrial complex V deficiency, nuclear type 4A (MC5DN4A) [MIM:620358] ATP5F1B P06576 VAR_048371 p.Glu274Gln LB/B rs1042001 - ATP5F1B P06576 VAR_074188 p.Ala130Val LB/B - - ATP5F1B P06576 VAR_087864 p.Leu335Pro LP/P - Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 (HUMOP2) [MIM:620085] ATP5F1D P30049 VAR_081452 p.Pro82Leu LP/P rs867410737 Mitochondrial complex V deficiency, nuclear type 5 (MC5DN5) [MIM:618120] ATP5F1D P30049 VAR_081453 p.Val106Gly LP/P rs1555745989 Mitochondrial complex V deficiency, nuclear type 5 (MC5DN5) [MIM:618120] ATP5F1E P56381 VAR_066211 p.Tyr12Cys LP/P rs387906929 Mitochondrial complex V deficiency, nuclear type 3 (MC5DN3) [MIM:614053] ATP5MC2 Q06055 VAR_011920 p.Ser58Ile LB/B rs13819 - ATP5MC2 Q06055 VAR_011921 p.Met141Lys LB/B rs1803177 - ATP5MC3 P48201 VAR_011922 p.Gly93Glu LB/B rs1802622 - ATP5MC3 P48201 VAR_086710 p.Asn106Lys LP/P - Dystonia, early-onset, and/or spastic paraplegia (DYTSPG) [MIM:619681] ATP5MC3 P48201 VAR_088544 p.Gly79Val LP/P - Dystonia, early-onset, and/or spastic paraplegia (DYTSPG) [MIM:619681] ATP5MC3 P48201 VAR_088545 p.Pro107Ala LP/P - Dystonia, early-onset, and/or spastic paraplegia (DYTSPG) [MIM:619681] ATP5MJ P56378 VAR_014526 p.Ile9Val LB/B rs1053419 - ATP5PB P24539 VAR_013176 p.Thr152Asn LB/B rs1264895 - ATP5PB P24539 VAR_033534 p.Thr152Met LB/B rs1264895 - ATP5PF P18859 VAR_083477 p.Ile39Thr LB/B - - ATP5PO P48047 VAR_011930 p.Lys98Arg LB/B rs4842 - ATP6AP1 Q15904 VAR_077021 p.Leu144Pro LP/P rs878853276 Immunodeficiency 47 (IMD47) [MIM:300972] ATP6AP1 Q15904 VAR_077022 p.Tyr313Cys LP/P rs878853278 Immunodeficiency 47 (IMD47) [MIM:300972] ATP6AP1 Q15904 VAR_077023 p.Glu346Lys LP/P rs878853277 Immunodeficiency 47 (IMD47) [MIM:300972] ATP6AP1 Q15904 VAR_077024 p.Met428Ile LP/P rs878853275 Immunodeficiency 47 (IMD47) [MIM:300972] ATP6AP2 O75787 VAR_051313 p.Pro90Ala LB/B rs9014 - ATP6AP2 O75787 VAR_051314 p.Ala290Pro LB/B rs35798522 - ATP6AP2 O75787 VAR_082052 p.Arg71His LP/P rs1057523485 Congenital disorder of glycosylation 2R (CDG2R) [MIM:301045] ATP6AP2 O75787 VAR_082053 p.Leu98Ser LP/P - Congenital disorder of glycosylation 2R (CDG2R) [MIM:301045] ATP6V0A1 Q93050 VAR_087489 p.Ser477Pro US - Developmental and epileptic encephalopathy 104 (DEE104) [MIM:619970] ATP6V0A1 Q93050 VAR_087490 p.Arg495Trp US rs781278654 Neurodevelopmental disorder with epilepsy and brain atrophy (NEDEBA) [MIM:619971] ATP6V0A1 Q93050 VAR_087491 p.Ala505Pro LP/P - Neurodevelopmental disorder with epilepsy and brain atrophy (NEDEBA) [MIM:619971] ATP6V0A1 Q93050 VAR_087492 p.Asn527Asp US rs766856192 Neurodevelopmental disorder with epilepsy and brain atrophy (NEDEBA) [MIM:619971] ATP6V0A1 Q93050 VAR_087493 p.Gly551Glu US - Developmental and epileptic encephalopathy 104 (DEE104) [MIM:619970] ATP6V0A1 Q93050 VAR_087494 p.Arg740Gln LP/P rs1567871600 Developmental and epileptic encephalopathy 104 (DEE104) [MIM:619970] ATP6V0A1 Q93050 VAR_087495 p.Arg804His LP/P - Developmental and epileptic encephalopathy 104 (DEE104) [MIM:619970] ATP6V0A2 Q9Y487 VAR_042730 p.Arg685Gln LB/B rs7969410 - ATP6V0A2 Q9Y487 VAR_042731 p.Ala813Val LB/B rs17883456 - ATP6V0A4 Q9HBG4 VAR_017255 p.Pro524Leu US rs121908368 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss (DRTA3) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_017256 p.Met580Thr LP/P rs3807153 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss (DRTA3) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_017257 p.Gly820Arg LP/P rs267606671 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss (DRTA3) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_020992 p.Val2Ala LB/B rs10258719 - ATP6V0A4 Q9HBG4 VAR_020993 p.Gly175Asp LP/P - Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss (DRTA3) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_020995 p.Arg449His LP/P rs1443883930 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss (DRTA3) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_020996 p.Arg807Gln LP/P rs28939081 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss (DRTA3) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_066612 p.Phe554Leu LB/B rs1026435 - ATP6V0A4 Q9HBG4 VAR_066613 p.His604Gln LB/B rs3807154 - ATP6V0B Q99437 VAR_035703 p.Val155Met US rs373883976 A breast cancer sample ATP6V0D2 Q8N8Y2 VAR_032039 p.Gly272Arg LB/B rs10094744 - ATP6V0D2 Q8N8Y2 VAR_032040 p.Glu295Lys LB/B rs4263741 - ATP6V1A P38606 VAR_078606 p.Gly72Asp LP/P rs1060505037 Cutis laxa, autosomal recessive, 2D (ARCL2D) [MIM:617403] ATP6V1A P38606 VAR_078607 p.Arg338Cys LP/P rs1060505036 Cutis laxa, autosomal recessive, 2D (ARCL2D) [MIM:617403] ATP6V1A P38606 VAR_080994 p.Asp11Asn US rs746407800 - ATP6V1A P38606 VAR_080995 p.Pro27Arg US rs1553709380 Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3) [MIM:618012] ATP6V1A P38606 VAR_080996 p.Asp100Tyr LP/P rs1553709855 Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3) [MIM:618012] ATP6V1A P38606 VAR_080997 p.Pro249Arg US - - ATP6V1A P38606 VAR_080998 p.Asp349Asn LP/P rs1553710664 Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3) [MIM:618012] ATP6V1A P38606 VAR_080999 p.Asp371Gly US - Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3) [MIM:618012] ATP6V1B1 P15313 VAR_007866 p.Leu81Pro LP/P rs121964880 Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss (DRTA2) [MIM:267300] ATP6V1B1 P15313 VAR_007867 p.Arg124Trp LP/P rs727505222 Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss (DRTA2) [MIM:267300] ATP6V1B1 P15313 VAR_007868 p.Met174Arg LP/P - Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss (DRTA2) [MIM:267300] ATP6V1B1 P15313 VAR_007869 p.Thr275Pro LP/P rs1161604514 Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss (DRTA2) [MIM:267300] ATP6V1B1 P15313 VAR_007870 p.Gly316Glu LP/P rs1553420413 Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss (DRTA2) [MIM:267300] ATP6V1B1 P15313 VAR_007871 p.Pro346Arg LP/P rs781838938 Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss (DRTA2) [MIM:267300] ATP6V1B1 P15313 VAR_007872 p.Gly364Ser LP/P - Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss (DRTA2) [MIM:267300] ATP6V1B1 P15313 VAR_021011 p.Thr30Ile LB/B rs17720303 - ATP6V1B1 P15313 VAR_021012 p.Gly123Val LP/P rs1343871627 Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss (DRTA2) [MIM:267300] ATP6V1B1 P15313 VAR_021013 p.Arg157Cys LP/P rs782500780 Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss (DRTA2) [MIM:267300] ATP6V1B1 P15313 VAR_021014 p.Glu161Lys LB/B rs114234874 - ATP6V1B1 P15313 VAR_021015 p.Arg465His LB/B rs142905621 - ATP6V1B2 P21281 VAR_073962 p.Arg485Pro LP/P rs730882177 Zimmermann-Laband syndrome 2 (ZLS2) [MIM:616455] ATP6V1C2 Q8NEY4 VAR_032041 p.Asn143Asp LB/B rs1198849 - ATP6V1E1 P36543 VAR_036565 p.Arg50Gly US - A colorectal cancer sample ATP6V1E1 P36543 VAR_078604 p.Leu128Pro LP/P rs1060505031 Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402] ATP6V1E1 P36543 VAR_078605 p.Arg212Trp LP/P rs1028534806 Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402] ATP6V1F Q16864 VAR_048348 p.Gly24Val LB/B rs10958 - ATP6V1G3 Q96LB4 VAR_048343 p.Glu54Gln LB/B rs16843254 - ATP7A Q04656 VAR_000699 p.Ala629Pro LP/P rs72554639 Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_000700 p.Gly727Arg LP/P rs72554644 Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_000701 p.Leu1006Pro LP/P rs72554651 Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_000702 p.Gly1019Asp LP/P rs72554652 Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_009999 p.Ser637Leu LP/P rs151340631 Occipital horn syndrome (OHS) [MIM:304150] ATP7A Q04656 VAR_010000 p.Val767Leu LB/B rs2227291 - ATP7A Q04656 VAR_010001 p.Leu873Arg LP/P rs72554646 Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_010002 p.Gly876Glu LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_010003 p.Cys1000Arg LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_010004 p.Gly1300Glu LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_010005 p.Gly1302Arg LP/P rs72554657 Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_010006 p.Gly1302Val LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_010007 p.Asp1305Ala LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_010008 p.Ala1362Val LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_016119 p.Ile669Thr LB/B rs2234935 - ATP7A Q04656 VAR_016120 p.Arg703His LB/B rs2234936 - ATP7A Q04656 VAR_016121 p.Ile1464Val LB/B rs2234938 - ATP7A Q04656 VAR_023261 p.Leu706Arg LP/P rs72554642 Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023262 p.Arg844His LP/P rs367775730 Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023263 p.Gly853Arg LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023264 p.Gly860Val LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023265 p.Gly876Arg LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023266 p.Gln924Arg LP/P - Occipital horn syndrome (OHS) [MIM:304150] ATP7A Q04656 VAR_023267 p.Ala1007Val LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023268 p.Gly1015Asp LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023269 p.Asp1044Gly LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023270 p.Leu1100Pro LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023271 p.Gly1118Asp LP/P rs72554654 Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023272 p.Gly1255Arg LP/P rs72554655 Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023273 p.Lys1282Glu LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023274 p.Asn1304Lys LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023275 p.Gly1315Arg LP/P rs797045390 Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023276 p.Ala1325Val LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023277 p.Ser1344Arg LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023278 p.Ile1345Phe LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023279 p.Gly1369Arg LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_023280 p.Ser1397Phe LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_063882 p.Thr994Ile LP/P rs267606673 Neuronopathy, distal hereditary motor, X-linked (HMNX) [MIM:300489] ATP7A Q04656 VAR_063883 p.Asn1304Ser LP/P rs151340632 Occipital horn syndrome (OHS) [MIM:304150] ATP7A Q04656 VAR_063884 p.Pro1386Ser LP/P rs267606672 Neuronopathy, distal hereditary motor, X-linked (HMNX) [MIM:300489] ATP7A Q04656 VAR_068831 p.Thr1048Ile LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_080663 p.Lys1350Glu LB/B rs4826245 - ATP7A Q04656 VAR_084344 p.Glu628Val LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_084345 p.Lys633Arg LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_084346 p.Ser653Tyr LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_084347 p.Gly666Arg LP/P rs797045344 Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_084348 p.Gly728Asp LP/P rs797045350 Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_084349 p.Ser761Pro LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_084350 p.Lys802Asn LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_084351 p.Gly1005Arg LP/P rs1569550143 Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_084352 p.Lys1037Asn LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_084353 p.Asp1301Gly LP/P rs1557238588 Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_084354 p.Gly1302Glu LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_084355 p.Asp1305Gly LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_084356 p.Ala1308Asp LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_084357 p.Ala1373Pro LP/P - Menkes disease (MNK) [MIM:309400] ATP7A Q04656 VAR_084358 p.Met1393Thr LP/P - Menkes disease (MNK) [MIM:309400] ATP7B P35670 VAR_000703 p.Gly85Val LP/P rs786204643 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000704 p.Gly96Asp LB/B rs1429553821 - ATP7B P35670 VAR_000705 p.Ile390Val LB/B rs770903362 - ATP7B P35670 VAR_000706 p.Ser406Ala LB/B rs1801243 - ATP7B P35670 VAR_000707 p.Val446Leu LB/B rs587783298 - ATP7B P35670 VAR_000708 p.Val456Leu LB/B rs1801244 - ATP7B P35670 VAR_000710 p.Leu492Ser LP/P rs1566580253 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000711 p.Asn565Ser LB/B rs778475094 - ATP7B P35670 VAR_000712 p.Gly626Ala US rs587783299 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000713 p.Asp642His US rs72552285 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000714 p.Met645Arg LP/P rs121907998 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000715 p.Met665Ile US rs72552259 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000716 p.Gly691Arg LP/P rs121908001 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000717 p.Leu708Pro LP/P rs121908000 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000719 p.Gly710Ser LP/P rs137853285 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000720 p.Gly711Glu LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000721 p.Tyr713Cys LP/P rs756883878 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000722 p.Arg723Gly LB/B - - ATP7B P35670 VAR_000723 p.Ile747Phe LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000724 p.Asp765Asn LP/P rs28942075 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000725 p.Met769Val LP/P rs193922103 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000726 p.Leu776Val US rs1217463955 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000727 p.Arg778Gly LP/P rs137853284 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000728 p.Arg778Leu LP/P rs28942074 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000729 p.Arg778Gln LP/P rs28942074 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000730 p.Arg778Trp LP/P rs137853284 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000731 p.Leu795Phe US rs751710854 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000732 p.Lys832Arg LB/B rs1061472 - ATP7B P35670 VAR_000733 p.Pro840Leu LP/P rs768671894 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000734 p.Ile857Thr LP/P rs1057520235 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000735 p.Val864Ile LB/B - - ATP7B P35670 VAR_000736 p.Gly869Arg LP/P rs191312027 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000737 p.Ala874Val LP/P rs121907994 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000738 p.Asp918Asn LP/P rs540935874 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000739 p.Arg919Gly LP/P rs121907993 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000740 p.Arg919Trp LP/P rs121907993 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000741 p.Ser921Asn LP/P rs1230241288 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000742 p.Thr933Pro US rs1555288410 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000743 p.Thr935Met LP/P rs750019452 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000744 p.Gly943Asp LP/P rs779323689 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000745 p.Gly943Ser LP/P rs28942076 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000746 p.Arg952Lys LB/B rs732774 - ATP7B P35670 VAR_000747 p.Arg969Gln LP/P rs121907996 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000748 p.Thr977Met LP/P rs72552255 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000749 p.Pro992Leu LP/P rs201038679 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000750 p.Val995Ala US rs777791532 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000751 p.Ala1003Thr LP/P rs201497300 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000752 p.Ala1018Val LP/P rs371840514 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000753 p.Gly1035Val LP/P rs753594031 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000754 p.Arg1041Trp US rs746485916 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000755 p.Leu1043Pro LP/P rs1412025509 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000756 p.Glu1064Ala LP/P rs374094065 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000757 p.Glu1064Lys LP/P rs376910645 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000758 p.His1069Gln LP/P rs76151636 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000759 p.Leu1083Phe LP/P rs1286080173 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000760 p.Gly1089Glu LP/P rs1555285911 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000761 p.Gly1089Val LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000762 p.Gly1101Arg LP/P rs786204483 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000763 p.Ile1102Thr LP/P rs560952220 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000764 p.Val1109Met LB/B rs759109027 - ATP7B P35670 VAR_000765 p.Val1140Ala LB/B rs1801249 - ATP7B P35670 VAR_000766 p.Gln1142His LP/P rs778749563 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000767 p.Val1146Met LP/P rs1213481140 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000768 p.Ile1148Thr LP/P rs60431989 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000769 p.Trp1153Cys LP/P rs1330620114 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000770 p.Met1169Val LP/P rs749085322 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000771 p.Ala1183Gly LP/P rs587783315 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000772 p.Ala1183Thr US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000773 p.Gly1186Cys LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000774 p.Gly1186Ser US rs786204547 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000775 p.Gly1213Val LP/P rs1555284582 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000776 p.Val1216Met LP/P rs776280797 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000778 p.Thr1220Met LP/P rs193922107 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000779 p.Asp1222Tyr LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000781 p.Gly1266Val LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000782 p.Asp1267Ala LP/P rs1555283916 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000783 p.Asn1270Ser LP/P rs121907990 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000784 p.Pro1273Leu LP/P rs758355520 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000785 p.Ala1278Val US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000787 p.Ser1310Arg LP/P rs749380700 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000788 p.Arg1322Pro LP/P rs753330854 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000789 p.Gly1341Asp LP/P rs779494870 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000790 p.Trp1353Arg LP/P rs1160679283 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000791 p.Ala1358Ser LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009004 p.Arg616Gln US rs752850609 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009006 p.Gly711Arg LP/P rs1394999756 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009007 p.Gly711Trp LP/P rs1394999756 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009008 p.Ser744Pro LP/P rs1593726081 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009009 p.Met769Arg LP/P rs772595172 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009010 p.Leu795Arg LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009011 p.Gly869Val LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009012 p.Cys985Tyr LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009013 p.Ala1003Val LP/P rs775055397 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009014 p.Thr1033Ala LP/P rs1555286620 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009015 p.Arg1041Pro LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009016 p.Pro1052Leu LP/P rs778543794 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009017 p.Gly1061Glu LP/P rs764131178 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009018 p.Ala1063Val LP/P rs587783309 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009019 p.Glu1068Gly LP/P rs1555286478 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009020 p.Gln1095Pro LP/P rs1555285891 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009021 p.Cys1104Phe LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009022 p.Arg1151His LP/P rs377297166 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009023 p.Met1169Thr LP/P rs1555285311 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009024 p.Glu1173Lys LP/P rs756029120 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009025 p.His1207Arg LB/B rs7334118 - ATP7B P35670 VAR_009026 p.Val1239Gly LP/P rs374628199 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009027 p.Val1262Phe LP/P rs769484789 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009028 p.Gly1266Arg LP/P rs121907992 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009029 p.Val1297Ile LB/B rs148399850 - ATP7B P35670 VAR_009030 p.Leu1327Val LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009031 p.Ser1363Phe LP/P rs776848753 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009032 p.Thr1434Met US rs60986317 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010010 p.Gly710Ala LP/P rs1555291285 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010011 p.Tyr741Cys LP/P rs770533110 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010012 p.Gly891Val LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010013 p.Ile967Phe LP/P rs60003608 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010014 p.Thr1031Ile LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010015 p.Arg1038Lys LP/P rs59959366 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010017 p.Val1106Asp LP/P rs775541743 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010018 p.Trp1153Arg LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010019 p.Gly1176Arg LP/P rs137853279 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010020 p.Asp1222Val LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010021 p.Gly1355Ser LP/P rs1555282751 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023010 p.Ala14Asp LB/B rs587783319 - ATP7B P35670 VAR_023011 p.Asn41Ser LP/P rs201738967 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023012 p.Arg616Trp LP/P rs374172791 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023013 p.Leu641Ser US rs186924074 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023014 p.Pro690Leu LP/P rs1555291809 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023015 p.Ser693Cys LP/P rs1212479289 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023016 p.Ser721Pro LP/P rs765667658 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023017 p.Thr737Arg US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023018 p.Pro760Leu LP/P rs766907687 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023019 p.Asp765Gly LP/P rs1555291147 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023020 p.Pro768His LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023021 p.Met769Ile LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023022 p.Gly875Arg LB/B rs587783304 - ATP7B P35670 VAR_023023 p.Val890Met LP/P rs786204718 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023024 p.Gln898Arg LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023025 p.Asp918Glu LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023026 p.Val949Gly LP/P rs1169959260 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023027 p.Ser975Tyr LP/P rs778163447 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023028 p.Thr1033Ser LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023029 p.Phe1094Leu LP/P rs1397083296 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023030 p.Pro1098Arg LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023031 p.Gly1099Ser LP/P rs761632029 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023032 p.Gly1111Asp LP/P rs182659444 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023033 p.Thr1143Asn LB/B rs587783313 - ATP7B P35670 VAR_023034 p.Ala1168Ser LP/P rs777879359 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023035 p.Thr1232Pro LP/P rs568009639 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023036 p.Pro1245Ser LB/B rs587783316 - ATP7B P35670 VAR_023037 p.Lys1248Asn LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023038 p.Leu1255Ile LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023039 p.Asp1271Asn LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023040 p.Asp1279Gly LP/P rs778914828 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023041 p.Leu1305Pro LP/P rs377144951 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023042 p.Ile1336Thr LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023043 p.Gly1355Cys LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023044 p.Leu1373Pro LP/P rs780811477 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023045 p.Leu1373Arg LP/P rs780811477 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044453 p.Val290Leu LB/B - - ATP7B P35670 VAR_044454 p.Ala486Ser US rs1282624946 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044455 p.Tyr532His US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044456 p.Gly591Asp LP/P rs797045402 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044457 p.Ala604Pro US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044458 p.His639Tyr US rs200728096 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044459 p.Ser653Tyr US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044460 p.Cys703Tyr LP/P rs767218895 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044461 p.Gly710Val LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044462 p.Ala756Gly LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044463 p.Thr766Met LP/P rs121907997 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044464 p.Thr766Arg LP/P rs121907997 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044465 p.Leu776Pro LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044466 p.Ala861Thr LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044468 p.Gly943Cys LP/P rs28942076 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044469 p.Gly988Arg LP/P rs199623434 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044470 p.Thr991Met LP/P rs41292782 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044471 p.Pro992His LP/P rs201038679 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044472 p.Met996Thr LP/P rs770782111 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044473 p.Gly1000Arg LP/P rs751078884 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044474 p.Thr1029Ile LP/P rs1555286628 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044476 p.Cys1104Tyr LP/P rs764041557 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044477 p.Val1106Ile US rs541208827 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044478 p.Gly1176Glu LP/P rs1318758433 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044480 p.Gly1221Glu LP/P rs1486594906 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044481 p.Asp1222Asn LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044483 p.Gln1256Arg LP/P rs1555283946 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044484 p.Asp1279Tyr LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044485 p.Gly1287Ser LP/P rs762866453 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044486 p.Asp1296Asn LP/P rs199821556 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044488 p.Tyr1331Ser LP/P rs1131691741 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044489 p.Gly1341Ser LP/P rs587783317 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044490 p.Gly1341Val LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044491 p.Pro1352Ser LP/P rs1388795855 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044492 p.Leu1368Pro LP/P rs749171049 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044493 p.Cys1375Ser US rs1365425480 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044494 p.Pro1379Ser US rs181250704 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044495 p.Asp1407Glu LB/B rs587783320 - ATP7B P35670 VAR_058925 p.Val536Ala LP/P rs138427376 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058926 p.Ser657Arg US rs372436901 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058927 p.Ala971Val LP/P rs770340441 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058928 p.Thr974Met LP/P rs201061621 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058929 p.Gln1004Pro LP/P rs587783307 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058930 p.Gly1149Ala LP/P rs1566462533 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058931 p.Asp1164Asn LP/P rs867107727 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058932 p.Glu1173Gly LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058933 p.Arg1228Thr LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058934 p.Ile1230Val LP/P rs200911496 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058935 p.Asp1267Val LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058936 p.Ala1328Thr LP/P rs1333619338 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058937 p.Met1359Ile LP/P rs759551693 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_067335 p.Leu549Pro US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_067336 p.Gly998Asp LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_067337 p.Asn1332Asp LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_067338 p.Gly1341Arg LP/P rs587783317 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_075336 p.Thr788Ile LP/P rs541408630 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_075337 p.Val1036Ile LP/P rs761147984 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_075338 p.Arg1151Cys LP/P rs755554442 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_075339 p.Val1243Leu LB/B rs1277243795 - ATP7B P35670 VAR_075340 p.Pro1245Thr LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076693 p.Arg136Trp US rs557577836 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076694 p.Arg148Trp US rs373762572 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076695 p.Ser382Cys US rs774102085 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076696 p.Glu541Lys US rs187046823 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076697 p.Val597Ile US rs760501309 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076698 p.Gly614Cys US rs376565432 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076699 p.Val731Ala US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076700 p.Leu745Pro US rs1362773192 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076701 p.Leu936Val US rs367855110 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076702 p.Met1017Ile US rs755851188 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076703 p.Ile1021Val US rs776490710 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076704 p.Ala1058Val US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076705 p.Pro1070Ser US rs1423701688 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076706 p.Ala1074Val US rs1206016866 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076707 p.Ala1250Gly US rs372042739 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076708 p.Val1298Ile US rs753044473 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076709 p.Val1298Leu US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076710 p.Ser1431Tyr US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076711 p.Ser1432Phe US rs375692175 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076729 p.Tyr44Asn US rs1566605396 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076730 p.Cys108Arg US rs1566603189 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076731 p.Cys157Phe US rs551275663 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076732 p.Val606Gly US rs1173050016 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076733 p.Met729Val US rs773447981 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076734 p.Leu732His US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076735 p.Leu732Pro US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076736 p.Arg827Trp LP/P rs539585071 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076737 p.Ala874Pro US rs376355660 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076738 p.Gly891Asp US rs483352684 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076740 p.Ser921Arg US rs1052485948 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076741 p.Ile929Val LB/B rs534960245 - ATP7B P35670 VAR_076742 p.Cys980Tyr US rs1038582488 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076743 p.Leu987Pro US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076744 p.Lys1010Thr LP/P rs747584649 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076745 p.Val1024Ala US rs1416453532 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076746 p.Thr1031Ala US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076747 p.Cys1091Tyr US rs778825095 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076748 p.Thr1178Ala US rs1387431334 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076749 p.Ala1202Gly US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076750 p.Gly1266Glu US rs1566444586 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076751 p.Gly1268Arg US rs1314712150 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076752 p.Ala1295Asp LP/P rs1340942427 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076765 p.Arg827Pro US rs368589213 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076766 p.Thr858Ala US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076767 p.Ile899Phe US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076768 p.Arg969Trp US rs774028495 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076769 p.Ala982Val US rs1487547257 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076770 p.Gly1012Arg US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076771 p.Gly1012Val US rs772089544 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076772 p.Thr1288Met US rs373748155 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076773 p.Asn1332Lys US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076774 p.Ser1369Leu US rs1555282678 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076793 p.Val149Leu LB/B - - ATP7B P35670 VAR_076794 p.Gly591Ser US rs1566559224 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076795 p.Val825Leu LB/B - - ATP7B P35670 VAR_076810 p.Gly170Val US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076811 p.Asp765His US rs28942075 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076812 p.Gly836Glu US rs773809011 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076813 p.Trp939Cys LP/P rs1057517310 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076814 p.Ala990Pro US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076815 p.Lys1010Arg US rs747584649 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076816 p.Cys1104Ser LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076817 p.Leu1113Met US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076818 p.Gly1281Asp US rs755202606 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076819 p.Glu1293Lys US rs776300396 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076970 p.Pro539Leu LP/P rs572122562 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076971 p.Trp779Gly LP/P rs751798708 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076972 p.Arg816Ser LP/P - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076973 p.Gly1347Ser US rs587783318 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_077616 p.Ala982Thr US rs750407121 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_077617 p.Glu1136Lys US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_077618 p.Gly1149Glu US - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_079550 p.Lys1010Glu US rs1414727042 Wilson disease (WD) [MIM:277900] ATP8A1 Q9Y2Q0 VAR_022003 p.Thr673Met LB/B rs3792687 - ATP8A2 Q9NTI2 VAR_055543 p.Ala1069Thr LB/B rs2296242 - ATP8A2 Q9NTI2 VAR_069928 p.Ile376Met LP/P rs546968533 Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (CAMRQ4) [MIM:615268] ATP8A2 Q9NTI2 VAR_084370 p.Lys429Asn US - Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (CAMRQ4) [MIM:615268] ATP8A2 Q9NTI2 VAR_084371 p.Lys429Met US rs1057522489 Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (CAMRQ4) [MIM:615268] ATP8A2 Q9NTI2 VAR_084372 p.Ala544Pro US - Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (CAMRQ4) [MIM:615268] ATP8A2 Q9NTI2 VAR_084375 p.Arg625Trp US rs764911379 Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (CAMRQ4) [MIM:615268] ATP8A2 Q9NTI2 VAR_084376 p.Trp702Arg US - Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (CAMRQ4) [MIM:615268] ATP8A2 Q9NTI2 VAR_084377 p.Asn917Asp US rs1593410369 Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (CAMRQ4) [MIM:615268] ATP8B1 O43520 VAR_008809 p.Leu288Ser LP/P rs121909099 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_008810 p.Gly308Val LP/P rs111033609 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_008812 p.Ile661Thr LP/P rs121909100 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_008812 p.Ile661Thr LP/P rs121909100 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_008813 p.Gly892Arg LP/P rs121909098 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_008813 p.Gly892Arg LP/P rs121909098 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_015423 p.Asp554Asn LP/P rs121909101 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_029271 p.His78Gln LB/B rs3745079 - ATP8B1 O43520 VAR_029272 p.Ile577Val LB/B rs3745078 - ATP8B1 O43520 VAR_029273 p.Arg952Gln LB/B rs12968116 - ATP8B1 O43520 VAR_036499 p.Ala886Val US rs767398921 A breast cancer sample ATP8B1 O43520 VAR_036500 p.Ile1178Met US - A breast cancer sample ATP8B1 O43520 VAR_043044 p.Asn45Thr LP/P rs146599962 Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480] ATP8B1 O43520 VAR_043045 p.Asp70Asn US rs34719006 Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480] ATP8B1 O43520 VAR_043045 p.Asp70Asn US rs34719006 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043046 p.Leu127Pro LP/P - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043047 p.Lys203Glu US rs56355310 Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480] ATP8B1 O43520 VAR_043048 p.Phe305Ile LB/B rs150860808 - ATP8B1 O43520 VAR_043049 p.Gly308Asp LP/P rs111033609 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043050 p.Ile344Phe LP/P rs140665115 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043051 p.Arg384His LB/B rs2271260 - ATP8B1 O43520 VAR_043052 p.Ile393Val LB/B rs34315917 - ATP8B1 O43520 VAR_043053 p.Ser403Tyr LP/P - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043054 p.Arg412Pro LP/P - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043055 p.Glu429Ala LB/B rs34018205 - ATP8B1 O43520 VAR_043056 p.Ser453Tyr LP/P - Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043057 p.Asp454Gly LP/P - Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043058 p.Thr456Met LP/P rs121909104 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043059 p.Tyr500His LP/P rs147642236 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043061 p.His535Leu LP/P - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043062 p.Ser580Asn LB/B rs33963153 - ATP8B1 O43520 VAR_043063 p.Arg600Gln LP/P rs1202682161 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043064 p.Arg600Trp LP/P rs780186596 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043065 p.Arg628Trp LP/P rs752045131 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043066 p.Met674Thr LB/B rs35470719 - ATP8B1 O43520 VAR_043067 p.Asp688Gly LP/P rs1337978497 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043068 p.Ile694Thr LP/P rs541474497 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043069 p.Gly733Arg LP/P rs1350369369 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043070 p.Lys814Asn LB/B rs34018300 - ATP8B1 O43520 VAR_043071 p.Phe853Ser LP/P rs773092889 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043072 p.Arg867Cys LP/P rs121909103 Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480] ATP8B1 O43520 VAR_043073 p.Gly1040Arg LP/P rs1438249656 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_055045 p.Ala1152Thr LB/B rs222581 - ATP8B1 O43520 VAR_071045 p.Pro209Thr LP/P rs515726138 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_071046 p.Ser1012Ile LP/P - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B3 O60423 VAR_055544 p.Gly45Arg LB/B rs7250872 - ATP8B3 O60423 VAR_055545 p.Val618Ile LB/B rs8100856 - ATP8B4 Q8TF62 VAR_046962 p.Asn225Ser LB/B rs16963151 - ATP8B4 Q8TF62 VAR_046963 p.His452Asn LB/B rs2452524 - ATP8B4 Q8TF62 VAR_046964 p.Asn1165Lys LB/B rs16962989 - ATP8B4 Q8TF62 VAR_046965 p.Val1190Gly LB/B rs16962987 - ATP9B O43861 VAR_047557 p.Ser39Gly LB/B rs4078115 - ATP9B O43861 VAR_047558 p.Asp504Asn LB/B rs36034863 - ATP9B O43861 VAR_047559 p.Met732Leu LB/B rs585033 - ATP9B O43861 VAR_061037 p.Arg108Gln LB/B rs34938281 - ATPAF1 Q5TC12 VAR_038906 p.Ser62Gly LB/B rs11211337 - ATPAF2 Q8N5M1 VAR_023386 p.Trp94Arg LP/P rs104894554 Mitochondrial complex V deficiency, nuclear type 1 (MC5DN1) [MIM:604273] ATPSCKMT Q6P4H8 VAR_039345 p.Thr75Met LB/B rs2438652 - ATPSCKMT Q6P4H8 VAR_039346 p.Ala105Val LB/B rs16884350 - ATPSCKMT Q6P4H8 VAR_039347 p.Val114Ala LB/B rs17360625 - ATPSCKMT Q6P4H8 VAR_039348 p.Leu229Met LB/B rs15757 - ATR Q13535 VAR_041584 p.Thr64Ala LB/B rs35306038 - ATR Q13535 VAR_041585 p.His90Tyr LB/B rs28897763 - ATR Q13535 VAR_041586 p.Lys297Asn LB/B rs2229033 - ATR Q13535 VAR_041587 p.Val316Ile LB/B rs28897764 - ATR Q13535 VAR_041588 p.Val959Met LB/B rs28910271 - ATR Q13535 VAR_041589 p.Tyr1087His LB/B rs34253059 - ATR Q13535 VAR_041590 p.Ser1213Gly LB/B rs34766606 - ATR Q13535 VAR_041591 p.Ala1488Pro US - A lung squamous cell carcinoma sample ATR Q13535 VAR_041592 p.Ser1607Asn LB/B rs55724025 - ATR Q13535 VAR_041593 p.Asn1612Ser LB/B rs55894265 - ATR Q13535 VAR_041594 p.Ala2002Gly US - A lung adenocarcinoma sample ATR Q13535 VAR_041595 p.Gly2120Ala LB/B rs35134774 - ATR Q13535 VAR_041596 p.Tyr2132Asp LB/B rs28910273 - ATR Q13535 VAR_041597 p.Ser2233Ile US - A lung large cell carcinoma sample ATR Q13535 VAR_041598 p.Arg2425Gln LB/B rs2229032 - ATR Q13535 VAR_041599 p.Pro2434Ala LB/B rs33972295 - ATR Q13535 VAR_041600 p.Glu2438Lys US - A breast pleomorphic lobular carcinoma sample ATR Q13535 VAR_041601 p.Glu2537Gln US - A breast infiltrating ductal carcinoma sample ATR Q13535 VAR_050532 p.Met211Thr LB/B rs2227928 - ATR Q13535 VAR_050533 p.Ile1526Val LB/B rs34124242 - ATR Q13535 VAR_067919 p.Gln2144Arg LP/P rs387906797 Cutaneous telangiectasia and cancer syndrome, familial (FCTCS) [MIM:614564] ATRAID Q6UW56 VAR_057991 p.Ala209Ser LB/B rs7437 - ATRIP Q8WXE1 VAR_050683 p.Lys125Gln LB/B rs11925638 - ATRIP Q8WXE1 VAR_050684 p.Pro240Leu LB/B rs35240314 - ATRN O75882 VAR_048967 p.Asp303Ala LB/B rs6107308 - ATRN O75882 VAR_048968 p.Ile426Thr LB/B rs17782078 - ATRN O75882 VAR_048969 p.Arg1152Lys LB/B rs3886999 - ATRN O75882 VAR_048970 p.Val1226Ile LB/B rs12329487 - ATRNL1 Q5VV63 VAR_043446 p.Ser989Asn LB/B rs1953758 - ATRX P46100 VAR_001226 p.Pro190Ala LP/P rs122445103 Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001227 p.Leu192Phe LP/P - Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001228 p.Cys200Ser LP/P - Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001229 p.Cys220Arg LP/P - Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001230 p.Trp222Ser LP/P - Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001231 p.Cys243Phe LP/P - Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001232 p.Arg246Cys LP/P rs122445105 Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001233 p.Gly249Asp LP/P - Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001234 p.His1609Arg LP/P rs122445093 Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001235 p.Cys1614Arg LP/P rs122445094 Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001236 p.Lys1650Asn LP/P rs122445095 Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001237 p.Asn1860Ser LP/P rs45439799 Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001238 p.Asp2035Val LP/P rs122445096 Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001239 p.Tyr2084His LP/P rs122445097 Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001240 p.Arg2131Gln LP/P rs122445101 Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001240 p.Arg2131Gln LP/P rs122445101 Intellectual disability-hypotonic facies syndrome, X-linked, 1 (MRXHF1) [MIM:309580] ATRX P46100 VAR_001241 p.Tyr2163Cys LP/P rs122445098 Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_010914 p.Arg246Leu LP/P rs1603226766 Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012113 p.Gly175Glu LP/P - Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012115 p.Asn179Ser LP/P rs398123425 Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012116 p.Pro190Leu LP/P rs1057518708 Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012117 p.Pro190Ser LP/P - Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012118 p.Val194Ile LP/P - Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012119 p.Gln219Pro LP/P - Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012120 p.Gly249Cys LP/P - Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012121 p.Val1538Gly US - Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012122 p.Val1552Phe LP/P rs1602995714 Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012123 p.Leu1645Ser LP/P - Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012124 p.Pro1713Ser LP/P - Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012125 p.Arg1742Lys LP/P rs122445104 Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012126 p.Tyr1847Cys LP/P - Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012127 p.Ile2050Thr LP/P rs122445110 Intellectual disability-hypotonic facies syndrome, X-linked, 1 (MRXHF1) [MIM:309580] ATRX P46100 VAR_016914 p.Ser596Pro LB/B rs1051678 - ATRX P46100 VAR_016915 p.Glu740Gly LB/B rs1051680 - ATRX P46100 VAR_016916 p.Thr1621Met LP/P rs122445106 Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_023438 p.Glu929Gln LB/B rs3088074 - ATRX P46100 VAR_032625 p.Cys220Tyr LP/P rs122445111 Intellectual disability-hypotonic facies syndrome, X-linked, 1 (MRXHF1) [MIM:309580] ATRX P46100 VAR_032626 p.Leu409Ser LP/P rs122445109 Intellectual disability-hypotonic facies syndrome, X-linked, 1 (MRXHF1) [MIM:309580] ATRX P46100 VAR_032627 p.Arg2271Gly LP/P rs122445112 Intellectual disability-hypotonic facies syndrome, X-linked, 1 (MRXHF1) [MIM:309580] ATRX P46100 VAR_055939 p.Gln545Glu LB/B rs35738915 - ATXN1 P54253 VAR_046616 p.His209Gln LB/B rs11969612 - ATXN1 P54253 VAR_046617 p.Pro753Ser LB/B rs16885 - ATXN1L P0C7T5 VAR_044496 p.Ser313Pro LB/B rs7194407 - ATXN2 Q99700 VAR_047629 p.Leu107Val LB/B rs695871 - ATXN2 Q99700 VAR_047630 p.Ser248Asn LB/B rs7969300 - ATXN3 P54252 VAR_013688 p.Val212Met LB/B rs1048755 - ATXN3L Q9H3M9 VAR_029861 p.Leu266Phe LB/B rs16999010 - ATXN3L Q9H3M9 VAR_029862 p.Gly332Asp LB/B rs4830842 - ATXN7 O15265 VAR_011823 p.Lys264Arg LB/B rs1053338 - ATXN7 O15265 VAR_011824 p.Pro663Ser LB/B rs1053340 - ATXN7 O15265 VAR_020143 p.Val862Met LB/B rs3774729 - ATXN7 O15265 VAR_053779 p.Ile573Val LB/B rs3733124 - ATXN7L2 Q5T6C5 VAR_053780 p.Pro495Ser LB/B rs1149172 - AUH Q13825 VAR_016911 p.Ala240Val LP/P rs769894315 3-methylglutaconic aciduria 1 (MGCA1) [MIM:250950] AUNIP Q9H7T9 VAR_031776 p.Lys82Thr LB/B rs34449716 - AURKA O14965 VAR_030840 p.Gly11Arg LB/B rs6069717 - AURKA O14965 VAR_030841 p.Phe31Ile LB/B rs2273535 - AURKA O14965 VAR_030842 p.Ile57Val LB/B rs1047972 - AURKA O14965 VAR_041127 p.Pro50Leu LB/B rs34572020 - AURKA O14965 VAR_041128 p.Ser155Arg US - A colorectal adenocarcinoma sample AURKA O14965 VAR_041129 p.Val174Met US - A metastatic melanoma sample AURKA O14965 VAR_041130 p.Met373Val LB/B rs33923703 - AURKA O14965 VAR_061745 p.Ser104Leu LB/B rs2230743 - AURKAIP1 Q9NWT8 VAR_020132 p.Gln107His LB/B rs3736374 - AURKB Q96GD4 VAR_027970 p.His100Gln LB/B rs3027254 - AURKB Q96GD4 VAR_027971 p.Met298Thr LB/B rs1059476 - AURKB Q96GD4 VAR_040383 p.Ala52Val LB/B rs55878091 - AURKB Q96GD4 VAR_040384 p.Thr179Met LB/B rs55871613 - AURKC Q9UQB9 VAR_040385 p.Gly52Glu US - A lung adenocarcinoma sample AURKC Q9UQB9 VAR_040386 p.Glu148Gln US - A lung squamous cell carcinoma sample AURKC Q9UQB9 VAR_040387 p.His244Gln US - A lung adenocarcinoma sample AUTS2 Q8WXX7 VAR_013864 p.Ala303Ser LB/B rs2293507 - AVEN Q9NQS1 VAR_020144 p.Gln228Arg LB/B rs2241647 - AVIL O75366 VAR_054974 p.Lys204Glu LB/B rs2172521 - AVIL O75366 VAR_083229 p.Arg135Gln LP/P rs138047529 Nephrotic syndrome 21 (NPHS21) [MIM:618594] AVIL O75366 VAR_083230 p.Leu425Met LP/P rs763782471 Nephrotic syndrome 21 (NPHS21) [MIM:618594] AVIL O75366 VAR_083231 p.Arg446His US rs1334894971 Nephrotic syndrome 21 (NPHS21) [MIM:618594] AVL9 Q8NBF6 VAR_027083 p.Cys257Ser LB/B rs2290213 - AVP P01185 VAR_004980 p.Ser17Phe LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004981 p.Ala19Thr LP/P rs387906511 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004982 p.Ala19Val LP/P rs387906512 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004983 p.Gly45Arg LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004984 p.Gly48Val LP/P rs121964883 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004985 p.Arg51Cys LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004986 p.Pro55Leu LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004988 p.Glu78Gly LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004989 p.Leu81Pro LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004990 p.Gly88Arg LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004991 p.Gly88Ser LP/P rs121964882 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004992 p.Cys92Ser LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004993 p.Gly93Trp LP/P rs121964885 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004994 p.Gly96Cys LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_011894 p.Pro82Leu LB/B rs5195 - AVP P01185 VAR_011895 p.Gly119Val LB/B rs1051744 - AVP P01185 VAR_015262 p.Tyr21His LP/P rs121964893 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015263 p.Pro26Leu LP/P rs142886338 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015264 p.Cys52Arg LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015265 p.Gly54Arg LP/P rs121964888 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015266 p.Gly54Val LP/P rs121964887 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015267 p.Cys59Arg LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015268 p.Cys59Tyr LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015269 p.Ser87Phe LP/P rs121964890 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015270 p.Cys92Tyr LP/P rs121964891 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015271 p.Gly96Val LP/P rs121964886 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015272 p.Arg97Cys LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015273 p.Arg97Pro LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015274 p.Cys98Gly LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015275 p.Cys104Phe LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015276 p.Cys105Arg LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015277 p.Cys116Gly LP/P rs74315383 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015278 p.Cys116Arg LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015279 p.Cys105Tyr LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_019273 p.Val67Ala LP/P rs28934878 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_019274 p.Gly96Asp LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_019275 p.Cys104Gly LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_019276 p.Cys116Trp LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_029997 p.Cys58Phe LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_029998 p.Cys98Ser LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_029999 p.Ala99Pro LP/P - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVPI1 Q5T686 VAR_031405 p.Ala41Gly LB/B rs2275047 - AVPR1A P37288 VAR_022065 p.Gly6Ser LB/B rs2228154 - AVPR1B P47901 VAR_025159 p.Lys65Asn LB/B rs35369693 - AVPR1B P47901 VAR_025160 p.Gly191Arg LB/B rs33990840 - AVPR1B P47901 VAR_025161 p.Ser267Gly LB/B rs36030374 - AVPR1B P47901 VAR_025162 p.Arg364His LB/B rs28632197 - AVPR1B P47901 VAR_061228 p.His224Gln LB/B rs3891058 - AVPR2 P30518 VAR_003516 p.Thr7Ser LB/B rs5196 - AVPR2 P30518 VAR_003517 p.Leu44Pro LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003519 p.Arg64Trp LB/B rs150351033 - AVPR2 P30518 VAR_003520 p.His80Arg LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003521 p.Val88Met LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003522 p.Arg106Cys LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003523 p.Cys112Arg LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003524 p.Arg113Trp LP/P rs28935496 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003525 p.Ser126Phe LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003526 p.Tyr128Ser LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003527 p.Ala132Asp LP/P rs104894747 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003528 p.Arg137His LP/P rs104894756 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003529 p.Arg143Pro LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003530 p.Ala147Val LB/B rs5200 - AVPR2 P30518 VAR_003531 p.Trp164Ser LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003532 p.Ser167Leu LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003533 p.Ser167Thr LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003534 p.Arg181Cys LP/P rs104894757 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003535 p.Gly185Cys LP/P rs104894748 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003536 p.Arg202Cys LP/P rs782806507 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003537 p.Arg203Cys LP/P rs104894750 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003538 p.Tyr205Cys LP/P rs104894749 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003541 p.Tyr280Cys LP/P rs104894752 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003542 p.Ala285Pro LP/P rs193922122 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003543 p.Pro286Leu LP/P rs1557100917 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003544 p.Pro286Arg LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003545 p.Leu292Pro LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003546 p.Leu309Pro LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003547 p.Asn317Lys LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_003548 p.Trp323Ser LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_011858 p.Ala42Val LB/B rs5198 - AVPR2 P30518 VAR_015296 p.Gly12Glu LB/B rs2071126 - AVPR2 P30518 VAR_015297 p.Leu43Pro LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015298 p.Ile46Lys LP/P rs104894759 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015299 p.Leu53Arg LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015300 p.Asn55Asp LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015301 p.Asn55His LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015302 p.Leu59Pro LP/P rs193922112 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015303 p.Ala61Val LB/B - - AVPR2 P30518 VAR_015304 p.Leu62Pro LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015305 p.Leu81Phe LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015306 p.Leu83Pro LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015307 p.Leu83Gln LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015308 p.Ala84Asp LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015309 p.Asp85Asn LP/P rs104894754 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015310 p.Gln92Arg LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015311 p.Leu94Gln LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015312 p.Pro95Leu LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015313 p.Trp99Arg LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015314 p.Arg104Cys LP/P rs104894760 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015315 p.Phe105Val LP/P rs104894758 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015316 p.Gly107Glu LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015317 p.Cys112Tyr LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015318 p.Gly122Arg LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015319 p.Met123Lys LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015320 p.Ser127Phe LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015321 p.Ile130Phe LP/P rs796052096 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015322 p.Leu135Pro LP/P rs1557100610 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015323 p.Arg139Ser LB/B - - AVPR2 P30518 VAR_015324 p.Ala163Pro LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015325 p.Pro173Ser LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015326 p.Gln174Leu LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015327 p.Asp191Gly LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015328 p.Gly201Asp LP/P rs104894755 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015329 p.Thr204Asn LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015330 p.Val206Asp LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015331 p.Thr207Asn LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015332 p.Ile209Phe LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015333 p.Phe214Ser LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015334 p.Val215Met LB/B rs112109182 - AVPR2 P30518 VAR_015335 p.Pro217Thr LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015336 p.Leu219Pro LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015337 p.Leu219Arg LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015338 p.Arg252Trp LB/B rs61733407 - AVPR2 P30518 VAR_015339 p.Met272Lys LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015340 p.Val277Ala LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015341 p.Leu282Pro LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015342 p.Pro286Ser LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015343 p.Phe287Leu LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015344 p.Leu289Pro LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015345 p.Ala294Pro LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015346 p.Leu309Arg LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015347 p.Ser315Arg LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015348 p.Ser318Thr LB/B - - AVPR2 P30518 VAR_015349 p.Cys319Arg LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015350 p.Asn321Asp LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015351 p.Asn321Lys LP/P rs193922123 Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015352 p.Asn321Tyr LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015353 p.Pro322His LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015354 p.Pro322Ser LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015355 p.Trp323Arg LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2 P30518 VAR_015356 p.Gly352Asp LB/B rs146350208 - AVPR2 P30518 VAR_025901 p.Arg137Cys LP/P rs104894761 Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539] AVPR2 P30518 VAR_025902 p.Arg137Leu LP/P rs104894756 Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539] AVPR2 P30518 VAR_035769 p.Arg247His US rs149668713 A breast cancer sample AVPR2 P30518 VAR_062591 p.Gly122Asp LP/P - Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AXDND1 Q5T1B0 VAR_031841 p.Ala742Val LB/B rs17369441 - AXDND1 Q5T1B0 VAR_031842 p.Glu991Gln LB/B rs6425573 - AXDND1 Q5T1B0 VAR_050705 p.Ile522Leu LB/B rs11577579 - AXDND1 Q5T1B0 VAR_050706 p.Gln993Glu LB/B rs6658180 - AXDND1 Q5T1B0 VAR_088327 p.Pro82Ser US - - AXDND1 Q5T1B0 VAR_088328 p.Arg95Cys US - - AXDND1 Q5T1B0 VAR_088329 p.Thr134Ile US - - AXDND1 Q5T1B0 VAR_088330 p.Ile270Thr US - - AXDND1 Q5T1B0 VAR_088331 p.His328Gln US rs571709171 - AXDND1 Q5T1B0 VAR_088332 p.Lys435Arg US rs150583143 - AXDND1 Q5T1B0 VAR_088333 p.Ile593Arg US - - AXDND1 Q5T1B0 VAR_088334 p.Arg828Gln US rs202143471 - AXDND1 Q5T1B0 VAR_088335 p.Ile925Thr US rs201462871 - AXIN1 O15169 VAR_015589 p.Leu106Arg US - Hepatocellular carcinoma (HCC) [MIM:114550] AXIN1 O15169 VAR_015590 p.Pro345Leu US rs779951904 Hepatocellular carcinoma (HCC) [MIM:114550] AXIN1 O15169 VAR_015591 p.Gly425Ser US rs116350678 Hepatocellular carcinoma (HCC) [MIM:114550] AXIN1 O15169 VAR_015592 p.Gly650Ser LB/B rs117208012 - AXIN1 O15169 VAR_015593 p.Arg841Gln LB/B rs34015754 - AXIN2 Q9Y2T1 VAR_054860 p.Pro50Ser LB/B rs2240308 - AXL P30530 VAR_041877 p.Arg499Cys US rs747576071 A gastric adenocarcinoma sample AXL P30530 VAR_041878 p.Ser515Gly LB/B rs1240393707 - AXL P30530 VAR_045596 p.Thr112Met LB/B rs35202236 - AXL P30530 VAR_045597 p.Arg295Trp US rs751738506 A lung neuroendocrine carcinoma sample AXL P30530 VAR_057990 p.Asp266Asn LB/B rs7249222 - AZIN2 Q96A70 VAR_050611 p.Ala288Ser LB/B rs16835244 - B2M P61769 VAR_030660 p.Ala11Pro LP/P rs104894481 Immunodeficiency 43 (IMD43) [MIM:241600] B2M P61769 VAR_076691 p.Asp96Asn LP/P rs398122820 Amyloidosis 8 (AMYL8) [MIM:105200] B3GALNT1 O75752 VAR_019646 p.Glu266Ala LB/B rs28937582 - B3GALNT1 O75752 VAR_019647 p.Gly271Arg LB/B rs104893683 - B3GALNT1 O75752 VAR_025091 p.Asp126Asn LB/B rs2231257 - B3GALNT2 Q8NCR0 VAR_035860 p.Asn203Ser US - A breast cancer sample B3GALNT2 Q8NCR0 VAR_069638 p.Gly247Glu LP/P rs367543072 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] B3GALNT2 Q8NCR0 VAR_069639 p.Val252Gly LP/P rs367543073 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] B3GALNT2 Q8NCR0 VAR_069640 p.Val268Met LP/P rs367543074 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] B3GALNT2 Q8NCR0 VAR_069641 p.Arg292Pro LP/P rs367543076 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] B3GALT5 Q9Y2C3 VAR_020460 p.Met85Thr LB/B rs3746887 - B3GALT5 Q9Y2C3 VAR_033536 p.Arg144His LB/B rs734411 - B3GALT5 Q9Y2C3 VAR_049347 p.Ser27Arg LB/B rs12627708 - B3GALT6 Q96L58 VAR_059317 p.Glu174Asp LB/B rs12085009 - B3GALT6 Q96L58 VAR_070132 p.Arg6Trp LP/P rs397514722 Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2) [MIM:615349] B3GALT6 Q96L58 VAR_070133 p.Ser65Gly LP/P rs397514719 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_070134 p.Pro67Leu LP/P rs397514720 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_070136 p.Asp156Asn LP/P rs397514718 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_070137 p.Asp207His LP/P rs397514723 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_070138 p.Gly217Ser LP/P rs397514724 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_070139 p.Arg232Cys LP/P rs397514717 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_070140 p.Cys300Ser LP/P rs786200939 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_070141 p.Ser309Thr LP/P rs397514721 Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2) [MIM:615349] B3GALT6 Q96L58 VAR_084154 p.Thr79Ala LP/P - Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_084155 p.Ser159Tyr US - Al-Gazali syndrome (ALGAZ) [MIM:609465] B3GALT6 Q96L58 VAR_084156 p.Tyr182Cys US rs1314046622 Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2) [MIM:615349] B3GALT6 Q96L58 VAR_084157 p.Phe186Leu LP/P rs1553151294 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_084158 p.Cys206Trp LP/P rs763080896 Al-Gazali syndrome (ALGAZ) [MIM:609465] B3GALT6 Q96L58 VAR_084159 p.Arg256Trp LP/P rs1638566519 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_084160 p.Glu265Asp US rs374677519 Al-Gazali syndrome (ALGAZ) [MIM:609465] B3GAT1 Q9P2W7 VAR_044538 p.Ala131Thr LB/B rs35434644 - B3GAT3 O94766 VAR_066624 p.Arg277Gln LP/P rs387906937 Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600] B3GAT3 O94766 VAR_075370 p.Pro140Leu LP/P rs879255269 Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600] B3GAT3 O94766 VAR_075371 p.Gly223Ser US rs372487178 Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600] B3GLCT Q6Y288 VAR_027849 p.Glu370Lys LB/B rs1041073 - B3GNT3 Q9Y2A9 VAR_022644 p.Arg328His LB/B rs36686 - B3GNT3 Q9Y2A9 VAR_074178 p.Ile317Phe LB/B - - B3GNT4 Q9C0J1 VAR_032600 p.Pro6Ala LB/B rs7136356 - B3GNT4 Q9C0J1 VAR_032601 p.Ser83Thr LB/B rs1001178 - B3GNT4 Q9C0J1 VAR_032602 p.Leu87Pro LB/B rs35203505 - B3GNT7 Q8NFL0 VAR_029633 p.Val233Ile LB/B rs2290130 - B3GNT8 Q7Z7M8 VAR_049348 p.Ser137Gly LB/B rs284662 - B3GNTL1 Q67FW5 VAR_032603 p.Ala326Thr LB/B rs7225887 - B4GALNT1 Q00973 VAR_012052 p.Leu35Val LB/B rs774896 - B4GALNT1 Q00973 VAR_012053 p.Gly172Arg LB/B rs810205 - B4GALNT1 Q00973 VAR_049237 p.Ala516Val LB/B rs17454674 - B4GALNT1 Q00973 VAR_070235 p.Arg300Cys LP/P rs756710480 Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195] B4GALNT1 Q00973 VAR_070236 p.Asp433Ala LP/P rs879255242 Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195] B4GALNT2 Q8NHY0 VAR_035990 p.Pro459His US - A colorectal cancer sample B4GALNT2 Q8NHY0 VAR_049238 p.Ala40Asp LB/B rs7207403 - B4GALNT2 Q8NHY0 VAR_049239 p.Cys466Arg LB/B rs7224888 - B4GALNT2 Q8NHY0 VAR_086499 p.Gln436Arg LB/B rs148441237 - B4GALNT2 Q8NHY0 VAR_086500 p.Arg523Trp LB/B rs61743617 - B4GALNT3 Q6L9W6 VAR_027842 p.Gly59Ser LB/B rs2075033 - B4GALNT3 Q6L9W6 VAR_027843 p.Arg265Gln LB/B rs11063529 - B4GALNT3 Q6L9W6 VAR_027844 p.Lys411Arg LB/B rs7298766 - B4GALNT3 Q6L9W6 VAR_048717 p.Arg768Gln LB/B rs11063570 - B4GALNT3 Q6L9W6 VAR_048718 p.Arg992His LB/B rs36078145 - B4GALNT4 Q76KP1 VAR_061096 p.Ala67Val LB/B rs34063493 - B4GALNT4 Q76KP1 VAR_061097 p.Gly88Val LB/B rs11822725 - B4GALT1 P15291 VAR_054019 p.Arg21Trp US rs1065764 Congenital disorder of glycosylation 2D (CDG2D) [MIM:607091] B4GALT1 P15291 VAR_054020 p.His257Arg LB/B rs9169 - B4GALT1 P15291 VAR_088576 p.Asn352Ser LB/B rs551564683 - B4GALT2 O60909 VAR_020487 p.Gln122His LB/B rs1859728 - B4GALT2 O60909 VAR_054021 p.Gly338Arg LB/B rs35904809 - B4GALT4 O60513 VAR_022697 p.Gln116Glu LB/B rs3764779 - B4GALT5 O43286 VAR_024468 p.Gly61Ser LB/B rs2273086 - B4GALT5 O43286 VAR_033538 p.Tyr371Asp LB/B rs35195217 - B4GALT5 O43286 VAR_054022 p.Asp368Asn LB/B rs235035 - B4GALT6 Q9UBX8 VAR_054023 p.Ile379Val LB/B rs34683195 - B4GALT7 Q9UBV7 VAR_010293 p.Ala186Asp LP/P rs121917817 Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1) [MIM:130070] B4GALT7 Q9UBV7 VAR_010294 p.Leu206Pro LP/P rs121917818 Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1) [MIM:130070] B4GAT1 O43505 VAR_025019 p.Thr253Ser LB/B rs35429253 - B4GAT1 O43505 VAR_069989 p.Asn390Asp LP/P rs397509397 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287] B4GAT1 O43505 VAR_069990 p.Ala406Val LP/P rs397509396 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287] B9D1 Q9UPM9 VAR_066995 p.Arg61Trp LB/B rs73980038 - B9D1 Q9UPM9 VAR_075700 p.Ser51Pro LB/B rs546359789 - B9D1 Q9UPM9 VAR_076974 p.Tyr32Cys LP/P rs771170000 Joubert syndrome 27 (JBTS27) [MIM:617120] B9D1 Q9UPM9 VAR_076975 p.Arg156Gln LP/P rs886038205 Joubert syndrome 27 (JBTS27) [MIM:617120] B9D2 Q9BPU9 VAR_036626 p.Ser101Arg LP/P rs1487082103 Meckel syndrome 10 (MKS10) [MIM:614175] B9D2 Q9BPU9 VAR_066996 p.Ile11Met LB/B rs2241714 - B9D2 Q9BPU9 VAR_080463 p.Leu36Pro US rs757863670 Joubert syndrome 34 (JBTS34) [MIM:614175] B9D2 Q9BPU9 VAR_080464 p.Pro74Ser US rs863225150 Joubert syndrome 34 (JBTS34) [MIM:614175] B9D2 Q9BPU9 VAR_080465 p.Gly155Ser US rs750436680 Joubert syndrome 34 (JBTS34) [MIM:614175] B9D2 Q9BPU9 VAR_087299 p.His5Gln US - Meckel syndrome 10 (MKS10) [MIM:614175] BAALC Q8WXS3 VAR_056741 p.Ser129Thr LB/B rs34542607 - BAAT Q14032 VAR_023737 p.Met76Val LP/P rs28937579 Bile acid conjugation defect 1 (BACD1) [MIM:619232] BAAT Q14032 VAR_052303 p.Arg20Gln LB/B rs1572983 - BAAT Q14032 VAR_085493 p.Asp69Val US - Bile acid conjugation defect 1 (BACD1) [MIM:619232] BAAT Q14032 VAR_085494 p.Pro84Thr US - Bile acid conjugation defect 1 (BACD1) [MIM:619232] BAAT Q14032 VAR_085495 p.Gly386Arg US - Bile acid conjugation defect 1 (BACD1) [MIM:619232] BACE1 P56817 VAR_051509 p.Arg481Cys LB/B rs539765 - BACE1 P56817 VAR_060692 p.Val265Ala LB/B rs28989503 - BACH1 O14867 VAR_048441 p.Ser314Pro LB/B rs35474725 - BACH2 Q9BYV9 VAR_033535 p.Ala418Thr LB/B rs34335140 - BACH2 Q9BYV9 VAR_082216 p.Leu24Pro LP/P - Immunodeficiency 60 and autoimmunity (IMD60) [MIM:618394] BACH2 Q9BYV9 VAR_082217 p.Glu788Lys US rs757652995 Immunodeficiency 60 and autoimmunity (IMD60) [MIM:618394] BAD Q92934 VAR_015380 p.Ala107Ser LB/B rs3729933 - BAG3 O95817 VAR_048344 p.Arg71Gln LB/B rs35434411 - BAG3 O95817 VAR_048345 p.Cys151Arg LB/B rs2234962 - BAG3 O95817 VAR_048346 p.Ala405Val LB/B rs11199064 - BAG3 O95817 VAR_048347 p.Pro407Leu LB/B rs3858340 - BAG3 O95817 VAR_063089 p.Pro209Leu LP/P rs121918312 Myopathy, myofibrillar, 6 (MFM6) [MIM:612954] BAG3 O95817 VAR_065479 p.Arg71Trp LP/P rs387906874 Cardiomyopathy, dilated, 1HH (CMD1HH) [MIM:613881] BAG3 O95817 VAR_065480 p.Arg477His LP/P rs387906876 Cardiomyopathy, dilated, 1HH (CMD1HH) [MIM:613881] BAG3 O95817 VAR_066777 p.Pro77Leu LB/B rs141355480 - BAG3 O95817 VAR_066778 p.Ile94Phe LB/B rs145393807 - BAG3 O95817 VAR_066779 p.Pro115Ser LB/B rs774241343 - BAG3 O95817 VAR_066780 p.Ala155Thr LB/B rs61756328 - BAG3 O95817 VAR_066781 p.Arg218Trp LP/P rs397514506 Cardiomyopathy, dilated, 1HH (CMD1HH) [MIM:613881] BAG3 O95817 VAR_066782 p.Arg258Trp LB/B rs117671123 - BAG3 O95817 VAR_066783 p.Asp300Asn LB/B rs78439745 - BAG3 O95817 VAR_066784 p.Pro380Ser LB/B rs144692954 - BAG3 O95817 VAR_066785 p.Glu455Lys LP/P rs397516881 Cardiomyopathy, dilated, 1HH (CMD1HH) [MIM:613881] BAG3 O95817 VAR_066786 p.Leu462Pro LP/P rs397514507 Cardiomyopathy, dilated, 1HH (CMD1HH) [MIM:613881] BAG3 O95817 VAR_066787 p.Val468Met LP/P - Cardiomyopathy, dilated, 1HH (CMD1HH) [MIM:613881] BAG3 O95817 VAR_066788 p.Glu553Asp LB/B rs763530097 - BAG5 Q9UL15 VAR_058712 p.Cys157Trp LB/B rs17854644 - BAG6 P46379 VAR_023531 p.Ser625Pro LB/B rs1052486 - BAG6 P46379 VAR_037150 p.Ala728Val LB/B rs11548856 - BAGE2 Q86Y30 VAR_059585 p.Arg95Thr LB/B rs2740327 - BAGE2 Q86Y30 VAR_059586 p.Arg106Gln LB/B rs9808647 - BAGE3 Q86Y29 VAR_059587 p.Arg95Thr LB/B rs2740327 - BAGE3 Q86Y29 VAR_059588 p.Gln106Arg LB/B rs9808647 - BAHCC1 Q9P281 VAR_050685 p.Arg2510Cys LB/B rs8746 - BAHCC1 Q9P281 VAR_059589 p.Thr1168Ala LB/B rs7213444 - BAHCC1 Q9P281 VAR_061559 p.Ala272Thr LB/B rs12952981 - BAHCC1 Q9P281 VAR_061560 p.Arg1434Gln LB/B rs35572189 - BAHCC1 Q9P281 VAR_061561 p.Thr1678Ala LB/B rs12601317 - BAHCC1 Q9P281 VAR_061562 p.Val2029Ile LB/B rs34680524 - BAHD1 Q8TBE0 VAR_032359 p.Glu26Gly LB/B rs3743143 - BAHD1 Q8TBE0 VAR_032360 p.Asp182His LB/B rs17856679 - BAHD1 Q8TBE0 VAR_032361 p.Gln298Lys LB/B rs3803357 - BAIAP2 Q9UQB8 VAR_050686 p.Gln519Arg LB/B rs4969391 - BAIAP2L1 Q9UHR4 VAR_033515 p.Ser460Thr LB/B rs2269966 - BAIAP3 O94812 VAR_026667 p.Asp582Ala LB/B rs1132356 - BAIAP3 O94812 VAR_050687 p.Ser879Ile LB/B rs36074509 - BAK1 Q16611 VAR_018829 p.Ala28Val LB/B rs4987115 - BAK1 Q16611 VAR_018830 p.Ser69Arg LB/B rs5745592 - BAK1 Q16611 VAR_048417 p.Arg42His LB/B rs1051911 - BANF1 O75531 VAR_065954 p.Ala12Thr LP/P rs387906871 Nestor-Guillermo progeria syndrome (NGPS) [MIM:614008] BANF2 Q9H503 VAR_013693 p.Thr78Ser LB/B rs1053993 - BANF2 Q9H503 VAR_024372 p.Asn3Asp LB/B rs4814640 - BANK1 Q8NDB2 VAR_027729 p.Arg61His LB/B rs10516487 - BANK1 Q8NDB2 VAR_027730 p.Ala383Thr LB/B rs3733197 - BANK1 Q8NDB2 VAR_027731 p.Cys650Arg LB/B rs3113676 - BAP1 Q92560 VAR_051517 p.Val616Glu LB/B rs35353781 - BAP1 Q92560 VAR_063498 p.Ala95Asp US - A lung cancer sample BAP1 Q92560 VAR_063499 p.Gly178Val US - A lung cancer sample BAP1 Q92560 VAR_065976 p.Ser63Cys LB/B rs747311942 - BAP1 Q92560 VAR_065977 p.Phe81Val US - - BAP1 Q92560 VAR_065978 p.Cys91Trp US - - BAP1 Q92560 VAR_065979 p.Glu315Ala LB/B rs149974450 - BAP1 Q92560 VAR_065980 p.Glu685Val US - - BAP1 Q92560 VAR_075251 p.Ile47Phe US - - BAP1 Q92560 VAR_086937 p.Pro12Ala LP/P - Kury-Isidor syndrome (KURIS) [MIM:619762] BAP1 Q92560 VAR_086938 p.Pro12Thr LP/P - Kury-Isidor syndrome (KURIS) [MIM:619762] BAP1 Q92560 VAR_086939 p.Glu31Lys US - Kury-Isidor syndrome (KURIS) [MIM:619762] BAP1 Q92560 VAR_086940 p.Leu49Pro US - Kury-Isidor syndrome (KURIS) [MIM:619762] BAP1 Q92560 VAR_086941 p.Cys91Gly LP/P - Kury-Isidor syndrome (KURIS) [MIM:619762] BAP1 Q92560 VAR_086942 p.Cys91Arg LP/P rs1705222655 Kury-Isidor syndrome (KURIS) [MIM:619762] BAP1 Q92560 VAR_086943 p.Cys91Ser LP/P - Kury-Isidor syndrome (KURIS) [MIM:619762] BAP1 Q92560 VAR_086944 p.His169Arg LP/P - Kury-Isidor syndrome (KURIS) [MIM:619762] BAP1 Q92560 VAR_086945 p.Arg718Gln US rs1440748203 Kury-Isidor syndrome (KURIS) [MIM:619762] BAP1 Q92560 VAR_087531 p.Thr93Ala LP/P - Tumor predisposition syndrome 1 (TPDS1) [MIM:614327] BARD1 Q99728 VAR_010354 p.Pro24Ser LB/B rs1048108 - BARD1 Q99728 VAR_010355 p.Lys153Glu LB/B rs753377280 - BARD1 Q99728 VAR_010356 p.Val507Met LB/B rs2070094 - BARD1 Q99728 VAR_010357 p.Cys557Ser LB/B rs28997576 - BARD1 Q99728 VAR_010358 p.Gln564His US - An ovarian clear cell adenocarcinoma BARD1 Q99728 VAR_010359 p.Arg658Cys LB/B rs3738888 - BARD1 Q99728 VAR_010360 p.Val695Leu US rs111367604 A breast cancer sample BARD1 Q99728 VAR_010361 p.Ser761Asn US rs142155101 An uterine cancer sample BARD1 Q99728 VAR_020109 p.Ser241Cys LB/B rs3738885 - BARD1 Q99728 VAR_024611 p.Arg378Ser LB/B rs2229571 - BARD1 Q99728 VAR_028309 p.Ser728Phe LB/B rs13389423 - BARD1 Q99728 VAR_038371 p.Ser186Gly LB/B rs16852741 - BARD1 Q99728 VAR_038372 p.Cys645Arg LB/B rs2228456 - BARX1 Q9HBU1 VAR_010927 p.Ala48Thr LB/B rs191789925 - BASP1 P80723 VAR_048396 p.Ala76Val LB/B rs3733748 - BATF2 Q8N1L9 VAR_048443 p.Gly6Ser LB/B rs12419103 - BATF3 Q9NR55 VAR_039988 p.Val11Ile LB/B rs2202683 - BAX Q07812 VAR_007809 p.Gly67Arg US rs398122513 A T-cell acute lymphoblastic leukemia cell line BAX Q07812 VAR_013575 p.Gly11Glu LB/B rs555248599 - BAX Q07812 VAR_013576 p.Gly108Val US - A Burkitt lymphoma BAX Q07812 VAR_047053 p.Gly39Arg LB/B rs36017265 - BAZ1A Q9NRL2 VAR_028049 p.Asp344Glu LB/B rs1133285 - BAZ1A Q9NRL2 VAR_048423 p.Asn1366Lys LB/B rs1044140 - BAZ2A Q9UIF9 VAR_055548 p.Val498Glu LB/B rs2230579 - BAZ2B Q9UIF8 VAR_055549 p.Met71Thr LB/B rs10202670 - BAZ2B Q9UIF8 VAR_055550 p.Leu422Ser LB/B rs3213790 - BAZ2B Q9UIF8 VAR_055551 p.Pro530Leu LB/B rs3732287 - BAZ2B Q9UIF8 VAR_055552 p.Gly702Val LB/B rs2302924 - BAZ2B Q9UIF8 VAR_055553 p.Ser2024Asn LB/B rs415793 - BBOF1 Q8ND07 VAR_027815 p.Lys496Glu LB/B rs3742809 - BBOF1 Q8ND07 VAR_059618 p.Arg58Gln LB/B rs3784039 - BBOF1 Q8ND07 VAR_059619 p.Arg183Lys LB/B rs17182762 - BBOF1 Q8ND07 VAR_059620 p.Asp230Val LB/B rs3784038 - BBS1 Q8NFJ9 VAR_017215 p.Glu234Lys LP/P rs35520756 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_017216 p.Met390Arg LP/P rs113624356 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_017217 p.Leu518Pro LP/P rs121917778 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038880 p.His35Arg LP/P rs775990952 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038881 p.Lys53Glu LP/P rs766602837 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038882 p.Asp148Asn LP/P rs200688985 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038883 p.Arg160Gln LP/P rs376894444 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038884 p.Gly305Ser LP/P rs942862410 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038886 p.Tyr434Ser LP/P - Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038887 p.Leu503His LP/P rs778225393 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038888 p.Leu518Gln LP/P - Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_065554 p.Gly559Asp LB/B rs544767888 - BBS1 Q8NFJ9 VAR_066278 p.Ile330Thr LP/P - Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_066485 p.Leu206Val LB/B rs146052054 - BBS1 Q8NFJ9 VAR_066486 p.Pro245Leu LB/B rs151203205 - BBS10 Q8TAM1 VAR_026391 p.Arg34Pro LP/P rs137852836 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026392 p.Arg49Trp LP/P rs768933093 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026393 p.Cys91Trp LP/P rs148374859 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026394 p.Leu170Ser LP/P rs780916348 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026395 p.Cys195Trp LP/P - Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026396 p.Tyr197Cys LP/P rs756632517 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026397 p.Val240Gly LP/P - Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026398 p.Leu308Phe LP/P - Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026399 p.Ser311Ala LP/P rs137852837 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026400 p.Ser329Leu LP/P rs1000990130 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026401 p.Pro363Leu LP/P rs938066133 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026402 p.Leu376Phe LB/B rs11109474 - BBS10 Q8TAM1 VAR_026403 p.Leu414Ser LP/P rs786204575 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026404 p.Lys579Arg LP/P rs141521925 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026405 p.Tyr613Cys LP/P rs575957641 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026406 p.Tyr613His LP/P rs141647931 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026407 p.Gly677Val LP/P rs1555202553 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026408 p.Thr689Pro LP/P rs759387000 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_052272 p.Pro539Leu LB/B rs35676114 - BBS10 Q8TAM1 VAR_066252 p.Leu55Pro LP/P rs1460517643 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_066253 p.Asp142Asn LB/B rs142863601 - BBS10 Q8TAM1 VAR_066254 p.Lys188Thr LP/P - Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_066255 p.Met255Ile US rs139658279 - BBS10 Q8TAM1 VAR_066256 p.Ala296Thr US rs150587582 - BBS10 Q8TAM1 VAR_066257 p.His410Gln LP/P rs1447555059 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_066258 p.Leu600Ser LP/P - Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_066259 p.Ala636Val LP/P rs113224628 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_066260 p.Leu687Pro LP/P - Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_066261 p.His715Arg LB/B rs769179905 - BBS10 Q8TAM1 VAR_075722 p.Val11Gly LP/P rs137852838 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS12 Q6ZW61 VAR_034919 p.Ile39Thr LB/B rs138036823 - BBS12 Q6ZW61 VAR_034921 p.Glu126Asp LB/B rs309369 - BBS12 Q6ZW61 VAR_034922 p.Pro159Leu US rs1450190654 Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_034923 p.Ile170Val LB/B rs1218692709 - BBS12 Q6ZW61 VAR_034924 p.Lys195Arg LB/B rs17854892 - BBS12 Q6ZW61 VAR_034925 p.Asn238Lys LB/B rs17006082 - BBS12 Q6ZW61 VAR_034926 p.Ala289Pro LP/P rs121918328 Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_034927 p.Arg386Gln LB/B rs309370 - BBS12 Q6ZW61 VAR_034928 p.Ser429Thr LB/B rs7665271 - BBS12 Q6ZW61 VAR_034929 p.Asn461His LB/B rs10027479 - BBS12 Q6ZW61 VAR_034930 p.Asp467Asn LB/B rs13135778 - BBS12 Q6ZW61 VAR_034931 p.Arg484Lys LB/B rs35690634 - BBS12 Q6ZW61 VAR_034932 p.Gly540Val LP/P rs1010403072 Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_034933 p.Ala615Val LB/B rs17857451 - BBS12 Q6ZW61 VAR_062964 p.Ile346Thr LP/P rs1553941373 Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_062965 p.Thr501Met LP/P rs138011813 Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_066266 p.Leu88Arg LP/P rs746271266 Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_066267 p.Gly119Ser LB/B rs77731085 - BBS12 Q6ZW61 VAR_066268 p.Tyr263His LB/B rs150040166 - BBS12 Q6ZW61 VAR_066269 p.Gln293Glu LP/P - Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_066270 p.Arg355Gln LP/P rs1474900361 Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_066271 p.Val400Met LP/P rs771136797 Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_066272 p.Lys408Arg US - - BBS12 Q6ZW61 VAR_066274 p.Tyr524Cys US rs770746493 - BBS12 Q6ZW61 VAR_066275 p.Arg525His US rs776730549 Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_066276 p.Gly539Asp LP/P - Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_066277 p.Arg674Cys LP/P rs759088490 Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS2 Q9BXC9 VAR_013162 p.Ser70Asn LB/B rs4784677 - BBS2 Q9BXC9 VAR_013163 p.Val75Gly LP/P rs121908174 Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_013164 p.Asp104Ala LP/P rs121908179 Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_013164 p.Asp104Ala LP/P rs121908179 Retinitis pigmentosa 74 (RP74) [MIM:616562] BBS2 Q9BXC9 VAR_013165 p.Ile123Val LB/B rs11373 - BBS2 Q9BXC9 VAR_013166 p.Arg315Gln LP/P rs544773389 Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_013167 p.Arg315Trp LP/P rs121908178 Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_013168 p.Thr558Ile LP/P rs370581600 Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_013169 p.Arg632Pro LP/P rs138043021 Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_013169 p.Arg632Pro LP/P rs138043021 Retinitis pigmentosa 74 (RP74) [MIM:616562] BBS2 Q9BXC9 VAR_029747 p.Ala122Val LB/B rs17856449 - BBS2 Q9BXC9 VAR_029748 p.Ala504Val LB/B rs16957538 - BBS2 Q9BXC9 VAR_038889 p.Arg23Pro LP/P - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_038890 p.Asp174Glu LP/P rs767373822 Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_038891 p.Leu349Trp LP/P rs752280639 Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_038892 p.Arg643His LP/P rs532361142 Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_066280 p.Gly81Cys LP/P rs750506474 Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_066281 p.Leu125Arg LP/P - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_066282 p.Ala136Pro LP/P - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_066283 p.Cys307Trp LP/P - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_066284 p.Tyr317Cys LP/P rs1597016660 Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_066285 p.Glu629Lys US rs746505864 - BBS2 Q9BXC9 VAR_075726 p.Ala33Asp LP/P rs797045155 Retinitis pigmentosa 74 (RP74) [MIM:616562] BBS2 Q9BXC9 VAR_075727 p.Pro134Arg LP/P rs376306240 Retinitis pigmentosa 74 (RP74) [MIM:616562] BBS2 Q9BXC9 VAR_075728 p.Gly139Val LP/P rs121908181 Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS4 Q96RK4 VAR_013170 p.Arg295Pro LP/P rs121434632 Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_017049 p.Asn165His LP/P - Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_017050 p.Leu327Pro LP/P - Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_017051 p.Ala364Glu LP/P rs28938468 Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_017052 p.Ser457Ile LP/P - Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_017053 p.Met472Val LP/P rs2277596 Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_017054 p.Ile354Thr LB/B rs2277598 - BBS4 Q96RK4 VAR_028722 p.Glu268Lys LB/B rs11638283 - BBS4 Q96RK4 VAR_028723 p.Ala393Val LB/B rs17852452 - BBS4 Q96RK4 VAR_038894 p.Lys46Arg LB/B rs75295839 - BBS4 Q96RK4 VAR_038895 p.Leu351Arg LP/P - Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_038896 p.Asp368Gly LP/P rs772548770 Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_038897 p.Pro503Leu LP/P rs756419611 Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_066287 p.Glu61Lys US rs1251827333 - BBS4 Q96RK4 VAR_066288 p.Glu412Asp US rs147202164 - BBS4 Q96RK4 VAR_066289 p.Thr488Lys US rs561284402 - BBS5 Q8N3I7 VAR_025316 p.Asn184Ser LB/B rs137853921 - BBS5 Q8N3I7 VAR_025317 p.Arg207His LB/B rs35487251 - BBS5 Q8N3I7 VAR_066290 p.Gly72Ser LP/P rs121908581 Bardet-Biedl syndrome 5 (BBS5) [MIM:615983] BBS5 Q8N3I7 VAR_066291 p.Asn251Asp LB/B rs143113298 - BBS5 Q8N3I7 VAR_072380 p.Thr183Ala LP/P rs121908582 Bardet-Biedl syndrome 5 (BBS5) [MIM:615983] BBS7 Q8IWZ6 VAR_017212 p.Thr211Ile LP/P rs119466002 Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] BBS7 Q8IWZ6 VAR_017213 p.His323Arg LP/P rs119466001 Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] BBS7 Q8IWZ6 VAR_038893 p.Ile66Phe LP/P rs1553934343 Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] BBS7 Q8IWZ6 VAR_065555 p.Tyr671Cys LB/B rs1013002037 - BBS7 Q8IWZ6 VAR_066286 p.Gly63Arg LP/P rs754579374 Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] BBS7 Q8IWZ6 VAR_066459 p.Gln293Pro LB/B rs889417696 - BBS9 Q3SYG4 VAR_026389 p.Gly141Arg LP/P rs137852857 Bardet-Biedl syndrome 9 (BBS9) [MIM:615986] BBS9 Q3SYG4 VAR_026390 p.Ala455Val LB/B rs764873070 - BBS9 Q3SYG4 VAR_051289 p.Thr12Ala LB/B rs4498440 - BBS9 Q3SYG4 VAR_051290 p.Ala455Thr LB/B rs11773504 - BBS9 Q3SYG4 VAR_051291 p.Arg521Gln LB/B rs34218557 - BBS9 Q3SYG4 VAR_066292 p.Thr549Ile LB/B rs59252892 - BBS9 Q3SYG4 VAR_066293 p.Leu665Phe LB/B rs116262072 - BBS9 Q3SYG4 VAR_066294 p.Leu779Gln LB/B rs142434516 - BBX Q8WY36 VAR_061264 p.Pro576Ser LB/B rs59781647 - BCAM P50895 VAR_021348 p.Arg77His LB/B rs28399653 - BCAM P50895 VAR_021349 p.Val196Ile LB/B rs28399654 - BCAM P50895 VAR_021350 p.Met204Lys LB/B rs28399656 - BCAM P50895 VAR_021351 p.Arg282His LB/B rs9967601 - BCAM P50895 VAR_021352 p.Val381Ile LB/B rs28399626 - BCAM P50895 VAR_021353 p.Lys451Gln LB/B rs28399630 - BCAM P50895 VAR_021354 p.Thr539Ala LB/B rs1135062 - BCAM P50895 VAR_021355 p.Gln581Leu LB/B rs28399659 - BCAN Q96GW7 VAR_019551 p.Glu504Lys LB/B rs1056695 - BCAN Q96GW7 VAR_050123 p.Ser356Leu LB/B rs12065791 - BCAR1 P56945 VAR_035798 p.Ser407Thr US rs144989936 A breast cancer sample BCAR1 P56945 VAR_057820 p.Arg491Leu LB/B rs16957558 - BCAR1 P56945 VAR_057821 p.His558Arg LB/B rs16957552 - BCAR1 P56945 VAR_058970 p.Pro76Ser LB/B rs1035539 - BCAR3 O75815 VAR_050689 p.Glu464Gly LB/B rs12062278 - BCAR3 O75815 VAR_050690 p.Gln593His LB/B rs17110107 - BCAS1 O75363 VAR_024251 p.Gly255Glu LB/B rs6022903 - BCAS1 O75363 VAR_026674 p.Gln24Lys LB/B rs394732 - BCAS1 O75363 VAR_026675 p.Val163Ala LB/B rs158551 - BCAS1 O75363 VAR_026676 p.Ser583Pro LB/B rs1055246 - BCAS1 O75363 VAR_050691 p.Gln472His LB/B rs35575210 - BCAS2 O75934 VAR_035799 p.Asn139Ser US rs1197668726 A colorectal cancer sample BCAS3 Q9H6U6 VAR_057583 p.Ile106Val LB/B rs34712615 - BCAS3 Q9H6U6 VAR_065093 p.Asn87Ser LB/B rs2643103 - BCAS3 Q9H6U6 VAR_086509 p.Pro567Leu LP/P rs754857276 Hengel-Maroofian-Schols syndrome (HEMARS) [MIM:619641] BCAS3 Q9H6U6 VAR_086510 p.Gly577Arg LP/P rs772813265 Hengel-Maroofian-Schols syndrome (HEMARS) [MIM:619641] BCAS4 Q8TDM0 VAR_016031 p.Glu56Asp LB/B rs2272962 - BCAS4 Q8TDM0 VAR_059590 p.Arg173His LB/B rs7273412 - BCAT1 P54687 VAR_019614 p.Glu321Lys LB/B rs7313020 - BCAT1 P54687 VAR_047681 p.Thr59Met LB/B rs17374285 - BCAT1 P54687 VAR_047682 p.Gly330Ser LB/B rs1057204 - BCAT2 O15382 VAR_048234 p.Thr186Arg LB/B rs11548193 - BCAT2 O15382 VAR_084533 p.Arg170Gln LP/P rs749866079 Hypervalinemia and hyperleucine-isoleucinemia (HVLI) [MIM:618850] BCAT2 O15382 VAR_084534 p.Glu264Lys LP/P rs767653663 Hypervalinemia and hyperleucine-isoleucinemia (HVLI) [MIM:618850] BCCIP Q9P287 VAR_046642 p.Glu254Gln LB/B rs17153610 - BCDIN3D Q7Z5W3 VAR_032614 p.Ser288Arg LB/B rs11169172 - BCHE P06276 VAR_002360 p.Asp98Gly LP/P rs1799807 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_002362 p.Leu358Ile LP/P rs121918557 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_002364 p.Ala567Thr LP/P rs1803274 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040012 p.Thr52Met LP/P rs56309853 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040013 p.Phe56Ile LP/P rs531738678 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040014 p.Tyr61Cys LP/P rs116097205 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040015 p.Pro65Ser LP/P rs148170012 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040016 p.Asp98His LP/P - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040017 p.Asn124Tyr LP/P rs1339128583 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040018 p.Pro128Ser LP/P rs3732880 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040019 p.Gly143Asp LP/P rs201820739 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040020 p.Leu153Phe LP/P rs747598704 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040021 p.Tyr156Cys LP/P rs121918558 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040022 p.Val170Met LP/P rs527843566 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040023 p.Asp198Glu LP/P rs781368801 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040024 p.Ser226Gly LP/P rs370077923 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040025 p.Ala227Val LP/P - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040026 p.Ala229Thr LP/P - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040027 p.Thr271Met LP/P rs28933389 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040028 p.Thr278Pro LP/P rs892642457 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040029 p.Glu283Asp LB/B rs16849700 - BCHE P06276 VAR_040030 p.Lys295Arg LP/P rs115624085 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040031 p.Leu335Pro LP/P rs104893684 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040032 p.Ala356Asp LP/P rs770337031 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040033 p.Gly393Arg LP/P rs115129687 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040034 p.Arg414Cys LP/P rs745364489 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040035 p.Gly418Val LP/P rs28933390 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040036 p.Phe446Ser LP/P - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040037 p.Glu488Lys LP/P rs200998515 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040038 p.Trp499Arg LP/P - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040039 p.Phe502Leu LP/P rs769316835 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040040 p.Glu525Val LP/P rs121918556 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040041 p.Arg543Cys LP/P rs199660374 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040042 p.Gln546Leu LP/P - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_072094 p.Lys40Arg LB/B rs116047990 - BCHE P06276 VAR_072095 p.Gly103Arg LP/P rs979653503 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_072096 p.Glu118Asp LP/P - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_072097 p.Ile127Met LB/B rs755600722 - BCHE P06276 VAR_072098 p.Val232Asp LP/P - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_072099 p.Val322Met LB/B rs754644618 - BCHE P06276 VAR_072100 p.Gly361Cys LP/P - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_072101 p.Arg498Trp LB/B rs115017300 - BCHE P06276 VAR_072730 p.Ala62Val LP/P rs1553778274 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCKDHA P12694 VAR_004968 p.Arg159Trp LP/P rs769688327 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_004969 p.Gln190Lys LP/P - Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_004970 p.Ala253Thr LP/P rs199599175 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_004971 p.Ile326Thr LP/P - Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_004972 p.Tyr413Cys US rs398123508 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_004973 p.Tyr438Asn LP/P rs137852870 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_015101 p.Gly290Arg LP/P rs137852871 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_015102 p.Phe409Cys LP/P rs137852872 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_034360 p.Pro39His LB/B rs11549936 - BCKDHA P12694 VAR_034361 p.Thr151Met LB/B rs34442879 - BCKDHA P12694 VAR_069748 p.Thr211Met LP/P rs398123503 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_069749 p.Ala220Val LP/P rs375785084 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_069750 p.Arg346Cys LP/P rs182923857 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_088268 p.Gly249Ser LP/P rs137852874 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_088269 p.Ala254Asp US - Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_088270 p.Arg265Trp US rs137852873 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_088271 p.Asn267Ser US - Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_088272 p.Ala285Pro LP/P rs398123508 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_088273 p.Arg297His US rs200137189 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_088274 p.Thr310Arg LP/P rs137852875 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHB P21953 VAR_004974 p.His206Arg LP/P - Maple syrup urine disease 1B (MSUD1B) [MIM:248600] BCKDHB P21953 VAR_024851 p.Arg183Pro LP/P rs79761867 Maple syrup urine disease 1B (MSUD1B) [MIM:248600] BCKDHB P21953 VAR_024852 p.Gly278Ser LP/P rs386834233 Maple syrup urine disease 1B (MSUD1B) [MIM:248600] BCKDHB P21953 VAR_050437 p.Thr41Ile LB/B rs35470366 - BCKDHB P21953 VAR_068348 p.Arg170His LP/P rs371518124 Maple syrup urine disease 1B (MSUD1B) [MIM:248600] BCKDHB P21953 VAR_068349 p.Gln346Arg LP/P - Maple syrup urine disease 1B (MSUD1B) [MIM:248600] BCKDHB P21953 VAR_088297 p.Asn176Tyr US - Maple syrup urine disease 1B (MSUD1B) [MIM:248600] BCKDK O14874 VAR_069037 p.Arg224Pro LP/P rs147210405 Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) [MIM:614923] BCKDK O14874 VAR_072184 p.Arg174Gly LP/P - Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) [MIM:614923] BCKDK O14874 VAR_072185 p.Leu389Pro LP/P - Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) [MIM:614923] BCL10 O95999 VAR_013208 p.Ala5Ser US rs12037217 - BCL10 O95999 VAR_013209 p.Val16Glu US - - BCL10 O95999 VAR_013210 p.Lys31Glu US - - BCL10 O95999 VAR_013211 p.Lys45Gln LB/B - - BCL10 O95999 VAR_013212 p.Thr52Ile US - - BCL10 O95999 VAR_013213 p.Cys57Arg US - - BCL10 O95999 VAR_013214 p.Arg58Gly US rs121918314 - BCL10 O95999 VAR_013215 p.Arg58Gln LB/B - - BCL10 O95999 VAR_013216 p.Arg64Lys US - - BCL10 O95999 VAR_013217 p.Asn93Ser LB/B - - BCL10 O95999 VAR_013218 p.Asp101Glu US - - BCL10 O95999 VAR_013219 p.Ser134Pro US - - BCL10 O95999 VAR_013220 p.Met153Val LB/B - - BCL10 O95999 VAR_013221 p.Thr168Ala US rs1384278393 - BCL10 O95999 VAR_013222 p.Leu174Ser US - - BCL10 O95999 VAR_013224 p.Gly213Glu US rs3768235 - BCL10 O95999 VAR_013225 p.Ser218Phe US - - BCL10 O95999 VAR_013226 p.Val230Ile US - - BCL10 O95999 VAR_077898 p.Thr162Met LB/B rs200837308 - BCL11A Q9H165 VAR_035553 p.Ser142Phe US - A breast cancer sample BCL11A Q9H165 VAR_076921 p.Thr47Pro LP/P rs886037864 Intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101] BCL11A Q9H165 VAR_076922 p.Cys48Phe LP/P rs886037865 Intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101] BCL11A Q9H165 VAR_076923 p.His66Gln LP/P rs886037866 Intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101] BCL11B Q9C0K0 VAR_035554 p.Ser331Pro US - A colorectal cancer sample BCL11B Q9C0K0 VAR_065741 p.Glu32Val US - - BCL11B Q9C0K0 VAR_065742 p.Pro229Ser LB/B rs749837100 - BCL11B Q9C0K0 VAR_078423 p.Asn441Lys LP/P rs750610248 Immunodeficiency 49 (IMD49) [MIM:617237] BCL11B Q9C0K0 VAR_081175 p.Asn807Lys LP/P rs888230251 Immunodeficiency 49 (IMD49) [MIM:617237] BCL2 P10415 VAR_000827 p.Thr7Ser LB/B - - BCL2 P10415 VAR_000828 p.Pro59Ser US - Non-Hodgkin lymphoma BCL2 P10415 VAR_000829 p.Val93Ile US - Non-Hodgkin lymphoma BCL2 P10415 VAR_014716 p.Ala43Thr LB/B rs1800477 - BCL2A1 Q16548 VAR_020342 p.Cys19Tyr LB/B rs1138357 - BCL2A1 Q16548 VAR_020343 p.Asn39Lys LB/B rs1138358 - BCL2A1 Q16548 VAR_020344 p.Gly82Asp LB/B rs3826007 - BCL2A1 Q16548 VAR_044059 p.Glu117Asp LB/B rs34080999 - BCL2L10 Q9HD36 VAR_047113 p.Leu21Arg LB/B rs2231292 - BCL2L12 Q9HB09 VAR_048419 p.Gly47Val LB/B rs2060263 - BCL2L13 Q9BXK5 VAR_024377 p.Ile55Val LB/B rs16981016 - BCL2L13 Q9BXK5 VAR_024378 p.Pro360Ser LB/B rs9306198 - BCL2L13 Q9BXK5 VAR_059141 p.Ile46Arg LB/B rs2587070 - BCL2L13 Q9BXK5 VAR_059142 p.Ile46Thr LB/B rs2587070 - BCL2L15 Q5TBC7 VAR_031475 p.Asp90Asn LB/B rs1217381 - BCL2L2 Q92843 VAR_048418 p.Gln133Arg LB/B rs910332 - BCL6 P41182 VAR_014825 p.His676Tyr LB/B rs1056936 - BCL6 P41182 VAR_019970 p.Ala493Thr LB/B rs2229362 - BCL6 P41182 VAR_052709 p.Asn252Ser LB/B rs34463990 - BCL7A Q4VC05 VAR_033539 p.Asn120Thr LB/B rs34821485 - BCL9 O00512 VAR_046545 p.Pro671Ser LB/B rs3820129 - BCL9 O00512 VAR_046546 p.Arg782Lys LB/B rs34002844 - BCLAF1 Q9NYF8 VAR_050692 p.Ser209Cys LB/B rs6940018 - BCLAF1 Q9NYF8 VAR_050693 p.Tyr459Asp LB/B rs1967446 - BCLAF1 Q9NYF8 VAR_050694 p.Leu461His LB/B rs1967445 - BCLAF1 Q9NYF8 VAR_050695 p.Asn629Ser LB/B rs7381749 - BCLAF1 Q9NYF8 VAR_050696 p.Arg875Cys LB/B rs34541670 - BCLAF1 Q9NYF8 VAR_059591 p.Gly66Ala LB/B rs9942517 - BCO1 Q9HAY6 VAR_048406 p.Arg267Ser LB/B rs12934922 - BCO1 Q9HAY6 VAR_048407 p.Ala379Val LB/B rs7501331 - BCO1 Q9HAY6 VAR_058112 p.Thr170Met LP/P rs119478057 Hypercarotenemia and vitamin A deficiency, autosomal dominant (HCVAD) [MIM:115300] BCO2 Q9BYV7 VAR_047047 p.Leu231Pro LB/B rs10891338 - BCO2 Q9BYV7 VAR_047048 p.Gly289Glu LB/B rs17113607 - BCO2 Q9BYV7 VAR_047049 p.Ile548Leu LB/B rs2217401 - BCOR Q6W2J9 VAR_020921 p.Pro85Leu LP/P rs121434618 Microphthalmia, syndromic, 2 (MCOPS2) [MIM:300166] BCORL1 Q5H9F3 VAR_037467 p.Gly209Ser LB/B rs5932715 - BCORL1 Q5H9F3 VAR_037468 p.Gly832Asp US - A breast cancer sample BCORL1 Q5H9F3 VAR_061020 p.Leu111Phe LB/B rs4830173 - BCORL1 Q5H9F3 VAR_070559 p.Asn820Ser US rs398123004 Shukla-Vernon syndrome (SHUVER) [MIM:301029] BCORL1 Q5H9F3 VAR_080909 p.Thr327Ile US - - BCORL1 Q5H9F3 VAR_082288 p.Pro32Leu US rs1603105985 Shukla-Vernon syndrome (SHUVER) [MIM:301029] BCORL1 Q5H9F3 VAR_082289 p.Ser496Phe US rs1057521638 Shukla-Vernon syndrome (SHUVER) [MIM:301029] BCORL1 Q5H9F3 VAR_082290 p.Val782Glu US rs1488781894 Shukla-Vernon syndrome (SHUVER) [MIM:301029] BCR P11274 VAR_031552 p.Asn796Ser LB/B rs140504 - BCR P11274 VAR_031553 p.Glu1037Lys LB/B rs776552570 - BCR P11274 VAR_031554 p.Thr1127Met LB/B rs35812689 - BCR P11274 VAR_041883 p.Ser400Pro US - A bladder transitional cell carcinoma sample BCR P11274 VAR_041884 p.Ile413Met LB/B rs56321828 - BCR P11274 VAR_041885 p.Asp752Glu LB/B rs12484731 - BCR P11274 VAR_041886 p.Tyr910Cys LB/B rs35537221 - BCR P11274 VAR_041887 p.Val949Ile LB/B rs2229038 - BCR P11274 VAR_041888 p.Val1091Met LB/B rs778229520 - BCR P11274 VAR_041889 p.Thr1096Ala LB/B rs745459086 - BCR P11274 VAR_041890 p.Ala1104Gly LB/B rs11558696 - BCR P11274 VAR_041891 p.Asp1106Asn LB/B rs879255379 - BCR P11274 VAR_041892 p.Ala1149Thr LB/B rs200099830 - BCR P11274 VAR_041893 p.Glu1161Lys LB/B - - BCR P11274 VAR_041894 p.Lys1187Glu LB/B rs1195127922 - BCR P11274 VAR_041895 p.Val1189Met LB/B rs55816482 - BCR P11274 VAR_041896 p.Ala1204Gly LB/B rs56265970 - BCR P11274 VAR_041897 p.Trp1235Arg LB/B rs55719322 - BCR P11274 VAR_051983 p.Lys558Thr LB/B rs4437065 - BCS1L Q9Y276 VAR_018149 p.Ser78Gly LP/P rs28937590 GRACILE syndrome (GRACILE) [MIM:603358] BCS1L Q9Y276 VAR_018159 p.Pro99Leu LP/P rs121908572 Mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_018160 p.Arg144Gln LP/P rs386833857 GRACILE syndrome (GRACILE) [MIM:603358] BCS1L Q9Y276 VAR_018161 p.Arg155Pro LP/P rs121908573 Mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_018162 p.Ser277Asn LP/P rs121908571 Mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_018163 p.Val327Ala LP/P rs386833858 GRACILE syndrome (GRACILE) [MIM:603358] BCS1L Q9Y276 VAR_018164 p.Val353Met LP/P rs121908574 Mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_032086 p.Gly35Arg LP/P rs121908579 Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_032087 p.Arg45Cys LP/P rs121908575 Mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_032088 p.Arg114Trp LP/P rs778769841 Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_032089 p.Arg183His LP/P rs121908577 Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_032090 p.Arg184Cys LP/P rs121908578 Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_032090 p.Arg184Cys LP/P rs121908578 Mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_032091 p.Gln302Glu LP/P rs1457171169 Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_032092 p.Arg306His LP/P rs1280810181 Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_064615 p.Thr50Ala LP/P rs121908580 Mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_064616 p.Arg73Cys LP/P rs140812286 Mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_064617 p.Arg183Cys LP/P rs144885874 Mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_064618 p.Phe368Ile LP/P - Mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_072243 p.Gly129Arg LP/P rs1057521059 Mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_072244 p.Tyr301Asn LP/P rs587777278 Bjoernstad syndrome (BJS) [MIM:262000] BDH2 Q9BUT1 VAR_023602 p.Asn70Ser LB/B rs1054707 - BDKRB1 P46663 VAR_014359 p.Ala250Val LB/B rs2229459 - BDKRB1 P46663 VAR_049376 p.Arg317Gln LB/B rs8004609 - BDKRB2 P30411 VAR_003457 p.Arg14Cys LB/B rs1046248 - BDKRB2 P30411 VAR_012284 p.Gly354Glu LB/B rs2227279 - BDNF P23560 VAR_004626 p.Val66Met LB/B rs6265 - BDNF P23560 VAR_011797 p.Gln75His LB/B rs1048218 - BDNF P23560 VAR_011798 p.Arg125Met LB/B rs1048220 - BDNF P23560 VAR_011799 p.Arg127Leu LB/B rs1048221 - BDNF P23560 VAR_018260 p.Thr2Ile US rs8192466 - BDNF P23560 VAR_080766 p.Met122Thr US rs765594245 - BDP1 A6H8Y1 VAR_043312 p.Asp38Glu LB/B rs3748043 - BDP1 A6H8Y1 VAR_043313 p.Arg757Cys LB/B rs3761966 - BDP1 A6H8Y1 VAR_043314 p.Val778Met LB/B rs3761967 - BDP1 A6H8Y1 VAR_043315 p.Ile1264Met LB/B rs715747 - BDP1 A6H8Y1 VAR_043316 p.Val1347Met LB/B rs6886336 - BDP1 A6H8Y1 VAR_043317 p.Lys1469Glu LB/B rs1698063 - BDP1 A6H8Y1 VAR_043318 p.Ile2013Leu LB/B rs6453014 - BDP1 A6H8Y1 VAR_056743 p.Asn26Ser LB/B rs3748042 - BDP1 A6H8Y1 VAR_056744 p.Ala125Val LB/B rs9687593 - BDP1 A6H8Y1 VAR_056745 p.Lys722Glu LB/B rs36009281 - BDP1 A6H8Y1 VAR_056746 p.Gly1180Ser LB/B rs715748 - BDP1 A6H8Y1 VAR_056747 p.Phe1244Ile LB/B rs1961760 - BDP1 A6H8Y1 VAR_056748 p.Gln1676Glu LB/B rs12187098 - BDP1 A6H8Y1 VAR_056749 p.Asn2555Ser LB/B rs17276250 - BECN1 Q14457 VAR_005236 p.Ile403Thr LB/B - - BECN1 Q14457 VAR_010384 p.Ala103Val LB/B - - BEND2 Q8NDZ0 VAR_022885 p.Phe154Leu LB/B rs17274127 - BEND2 Q8NDZ0 VAR_050935 p.Ser188Phe LB/B rs12859329 - BEND7 Q8N7W2 VAR_035501 p.Arg313Thr US - A breast cancer sample BEND7 Q8N7W2 VAR_057830 p.Asn341Ser LB/B rs12247033 - BEST1 O76090 VAR_000830 p.Thr6Pro LP/P rs28940275 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000831 p.Val9Ala LP/P rs281865205 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000832 p.Val9Met LP/P rs28940276 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000833 p.Ala10Thr LP/P rs281865206 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000834 p.Leu21Val LP/P rs281865212 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000835 p.Trp24Cys LP/P rs281865213 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000836 p.Arg25Gln LP/P rs281865215 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000837 p.Arg25Trp LP/P rs281865214 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000838 p.Ser27Arg LP/P rs281865216 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000839 p.Gln58Leu LP/P rs281865529 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000840 p.Leu67Val LB/B - - BEST1 O76090 VAR_000841 p.Tyr85His LP/P rs28940274 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000842 p.Arg92Ser LP/P rs281865224 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000843 p.Trp93Cys LP/P rs28940273 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000844 p.Asn99Lys LP/P rs281865227 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000845 p.Leu100Arg LP/P rs281865228 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000846 p.Asp104Glu LP/P rs281865232 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000847 p.Arg141His LP/P rs121918284 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_000847 p.Arg141His LP/P rs121918284 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000848 p.Ser209Asn US rs281865237 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000849 p.Arg218Cys LP/P rs281865238 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000850 p.Arg218Gln LP/P - Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000851 p.Arg218Ser LP/P rs281865238 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000852 p.Leu224Met LP/P rs281865242 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000853 p.Tyr227Cys LP/P rs267606677 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000853 p.Tyr227Cys LP/P rs267606677 Retinitis pigmentosa 50 (RP50) [MIM:613194] BEST1 O76090 VAR_000854 p.Tyr227Asn LP/P rs28941469 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000855 p.Ser231Arg LP/P rs281865244 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000856 p.Val235Met LP/P rs281865245 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000857 p.Thr237Arg LP/P rs281865246 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000858 p.Ala243Val LP/P rs28940570 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000860 p.Pro297Ala LP/P rs1805143 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000861 p.Gly299Glu LP/P rs28941468 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000862 p.Glu300Lys LP/P rs281865258 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000863 p.Asp301Glu LP/P rs281865261 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000864 p.Asp301Asn LP/P rs281865259 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000865 p.Phe305Ser LP/P rs281865265 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000866 p.Ile310Thr LP/P rs281865271 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000867 p.Val311Gly LP/P - Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000868 p.Asp312Asn LP/P rs281865277 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_000868 p.Asp312Asn LP/P rs281865277 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_009278 p.Glu578Val LB/B rs1800010 - BEST1 O76090 VAR_010468 p.Ala10Val LP/P rs281865207 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010469 p.Arg13His LP/P rs281865209 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010470 p.Ser16Phe LP/P rs281865210 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010471 p.Phe17Cys LP/P rs281865211 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010472 p.Ile73Asn LP/P rs1591280714 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010473 p.Leu82Val LP/P rs281865530 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010474 p.Arg92Cys LP/P rs281865224 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010475 p.Arg92His LP/P rs281865225 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010476 p.Gln96His LP/P rs281865226 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010477 p.Glu119Gln LP/P rs1805142 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010478 p.Gly135Ser LP/P rs281865234 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010479 p.Ala146Lys LP/P rs1800995 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010480 p.Thr216Ile LB/B rs281865275 - BEST1 O76090 VAR_010481 p.Arg218His LP/P rs281865239 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010482 p.Val235Leu LP/P rs281865245 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010483 p.Gln293Lys LP/P rs281865250 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010484 p.Asn296Ser LP/P rs281865255 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010485 p.Pro297Ser LP/P rs1805143 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010486 p.Glu300Asp LP/P rs1805144 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010487 p.Thr307Ile LP/P rs281865269 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010488 p.Glu525Ala LB/B rs200582915 - BEST1 O76090 VAR_010489 p.Glu557Lys LB/B rs147192139 - BEST1 O76090 VAR_010490 p.Thr561Ala LB/B rs281865283 - BEST1 O76090 VAR_010491 p.Leu567Phe US rs148060787 - BEST1 O76090 VAR_017366 p.Thr6Arg LP/P rs281865204 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017367 p.Asn11Ile LP/P rs281865208 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017368 p.Gly26Arg LP/P - Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017369 p.Tyr29His LP/P rs281865217 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017370 p.Lys30Arg LP/P rs281865218 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017371 p.Leu41Pro LP/P rs121918288 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_017371 p.Leu41Pro LP/P rs121918288 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017372 p.Arg47His LP/P rs28940278 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017373 p.Phe80Leu LP/P rs281865221 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017374 p.Val89Ala LP/P - Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017375 p.Thr91Ile LP/P rs281865223 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017376 p.Pro101Thr LP/P rs281865229 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017377 p.Trp102Arg LP/P rs281865230 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017378 p.Asp104His LP/P rs281865231 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017379 p.Asn133Lys LP/P rs281865233 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017380 p.Leu140Arg LP/P rs281865235 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017381 p.Ala195Val LP/P rs200277476 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_017381 p.Ala195Val LP/P rs200277476 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025731 p.Arg105Cys LB/B rs281865273 - BEST1 O76090 VAR_025732 p.Phe113Leu LP/P rs1445469923 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025733 p.Ile201Thr LP/P rs199529046 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025734 p.Leu207Ile LP/P rs74653691 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025735 p.Cys221Trp LP/P rs281865240 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025736 p.Gly222Val LP/P rs281865241 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025737 p.Leu224Pro LP/P rs281865243 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025738 p.Thr241Asn LP/P rs281865247 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025739 p.Ala243Thr LP/P rs137853905 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025740 p.Val275Ile LB/B rs281865276 - BEST1 O76090 VAR_025741 p.Phe276Leu LP/P rs281865248 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025742 p.Leu294Val LP/P rs281865251 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025743 p.Ile295Thr LP/P rs281865253 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025744 p.Asn296His LP/P rs281865254 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025745 p.Phe298Ser LP/P rs281865257 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025746 p.Asp302Gly LP/P rs281865263 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025747 p.Asp302His LP/P rs281865262 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025748 p.Asp302Val LP/P rs281865263 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025749 p.Asp303Glu LP/P rs281865264 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025750 p.Glu306Asp LP/P rs281865267 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025751 p.Glu306Gly LP/P rs281865266 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025752 p.Thr307Ala LP/P rs281865268 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025753 p.Asn308Ser LP/P rs281865270 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_043493 p.Pro152Ala LP/P rs1417478879 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_043494 p.Val317Met LP/P rs121918287 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_043495 p.Met325Thr LP/P rs368387447 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_043496 p.Ala357Val LB/B rs17854138 - BEST1 O76090 VAR_058273 p.Ile3Thr LP/P - Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_058274 p.Val86Met LP/P rs121918289 Vitreoretinochoroidopathy (VRCP) [MIM:193220] BEST1 O76090 VAR_058275 p.Tyr236Cys LP/P rs121918291 Vitreoretinochoroidopathy (VRCP) [MIM:193220] BEST1 O76090 VAR_058276 p.Val239Met LP/P rs121918290 Vitreoretinochoroidopathy (VRCP) [MIM:193220] BEST1 O76090 VAR_058277 p.Val242Met LP/P - Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_058313 p.Gly299Ala LP/P - Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_063169 p.Leu140Val LP/P rs267606678 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_063169 p.Leu140Val LP/P rs267606678 Retinitis pigmentosa 50 (RP50) [MIM:613194] BEST1 O76090 VAR_063170 p.Ile205Thr LP/P rs267606680 Retinitis pigmentosa 50 (RP50) [MIM:613194] BEST1 O76090 VAR_063171 p.Asp228Asn LP/P rs267606676 Retinitis pigmentosa 50 (RP50) [MIM:613194] BEST1 O76090 VAR_075346 p.Leu40Pro US - Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_075347 p.Arg202Trp LP/P rs765998048 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST3 Q8N1M1 VAR_048409 p.Tyr43His LB/B rs1025016 - BEST3 Q8N1M1 VAR_048410 p.Glu622Gly LB/B rs17106884 - BEST4 Q8NFU0 VAR_048411 p.Tyr62Cys LB/B rs16832245 - BEST4 Q8NFU0 VAR_048412 p.Tyr217Ser LB/B rs16832242 - BEST4 Q8NFU0 VAR_048413 p.Gln331Glu LB/B rs16832241 - BEST4 Q8NFU0 VAR_048414 p.Arg402Leu LB/B rs16832239 - BEX1 Q9HBH7 VAR_025756 p.Ala40Val LB/B rs709036 - BEX1 Q9HBH7 VAR_025757 p.Met66Ile LB/B rs1045082 - BEX1 Q9HBH7 VAR_042667 p.Val9Leu LB/B rs3174500 - BEX1 Q9HBH7 VAR_042668 p.Ser11Asn LB/B rs1045058 - BEX1 Q9HBH7 VAR_042669 p.Ser13Ile LB/B rs1045061 - BEX1 Q9HBH7 VAR_042670 p.Met14Val LB/B rs1045063 - BEX1 Q9HBH7 VAR_042671 p.Ala17Val LB/B rs1045065 - BFAR Q9NZS9 VAR_052075 p.Met140Arg LB/B rs11546303 - BFAR Q9NZS9 VAR_052076 p.Arg245His LB/B rs35377618 - BFSP1 Q12934 VAR_024492 p.Gly345Ser LB/B rs6080719 - BFSP1 Q12934 VAR_036683 p.Asp656Glu LB/B rs16999317 - BFSP1 Q12934 VAR_078861 p.Asp348Asn LP/P rs1085307126 Cataract 33, multiple types (CTRCT33) [MIM:611391] BFSP2 Q13515 VAR_012164 p.Arg287Trp LP/P rs104893685 Cataract 12, multiple types (CTRCT12) [MIM:611597] BFSP2 Q13515 VAR_084817 p.Ala379Glu US rs774824478 Cataract 12, multiple types (CTRCT12) [MIM:611597] BGLAP P02818 VAR_038743 p.Arg94Gln LB/B rs34702397 - BGN P21810 VAR_036605 p.Arg266Thr US - A breast cancer sample BGN P21810 VAR_036606 p.Lys288Asn US - A breast cancer sample BGN P21810 VAR_076590 p.Lys147Glu LP/P rs879255604 Spondyloepimetaphyseal dysplasia, X-linked (SEMDX) [MIM:300106] BGN P21810 VAR_076591 p.Gly259Val LP/P rs879255605 Spondyloepimetaphyseal dysplasia, X-linked (SEMDX) [MIM:300106] BGN P21810 VAR_078028 p.Gly80Ser US rs886037825 Meester-Loeys syndrome (MRLS) [MIM:300989] BGN P21810 VAR_078029 p.Gln303Pro US rs886037824 Meester-Loeys syndrome (MRLS) [MIM:300989] BHLHA9 Q7RTU4 VAR_073333 p.Asn71Asp LP/P rs672601337 Syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD) [MIM:609432] BHLHA9 Q7RTU4 VAR_073334 p.Arg73Pro LP/P rs672601338 Syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD) [MIM:609432] BHLHA9 Q7RTU4 VAR_073335 p.Arg75Leu LP/P rs672601339 Syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD) [MIM:609432] BHLHA9 Q7RTU4 VAR_077086 p.Glu74Leu US rs886037856 Camptosynpolydactyly, complex (CCSPD) [MIM:607539] BHLHE22 Q8NFJ8 VAR_061255 p.Ser28Ala LB/B rs7016250 - BHLHE41 Q9C0J9 VAR_063259 p.Pro384Arg LB/B rs121912617 - BHLHE41 Q9C0J9 VAR_082585 p.Tyr362His LB/B rs1591838266 - BHLHE41 Q9C0J9 VAR_082586 p.Pro384Gln LB/B rs121912617 - BHMT Q93088 VAR_015886 p.Arg239Gln LB/B rs3733890 - BHMT Q93088 VAR_061345 p.Gly199Ser LB/B rs59866108 - BICC1 Q9H694 VAR_029658 p.Gly8Asp LB/B rs7905025 - BICC1 Q9H694 VAR_033542 p.Ser943Pro LB/B rs4948550 - BICC1 Q9H694 VAR_060133 p.Asn945Ser LB/B rs7895817 - BICC1 Q9H694 VAR_066759 p.Asn711Thr LB/B rs138916713 - BICC1 Q9H694 VAR_066760 p.Glu932Gly LP/P rs387907124 Renal dysplasia, cystic (CYSRD) [MIM:601331] BICC1 Q9H694 VAR_072077 p.Met270Val US rs753582128 - BICD1 Q96G01 VAR_069060 p.Thr778Ala LB/B rs200845476 - BICD2 Q8TD16 VAR_070111 p.Lys90Arg LB/B rs61754130 - BICD2 Q8TD16 VAR_070112 p.Ser107Leu LP/P rs398123028 Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290] BICD2 Q8TD16 VAR_070113 p.Asn188Thr LP/P rs398123029 Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290] BICD2 Q8TD16 VAR_070114 p.Ile189Phe LP/P rs1587671674 Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290] BICD2 Q8TD16 VAR_070115 p.Arg501Pro LP/P rs398123032 Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290] BICD2 Q8TD16 VAR_070116 p.Lys508Thr LP/P rs398123031 Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290] BICD2 Q8TD16 VAR_070117 p.Thr703Met LP/P rs371707778 Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290] BICD2 Q8TD16 VAR_070118 p.Glu774Gly LP/P rs398123030 Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290] BICD2 Q8TD16 VAR_081854 p.Gln194Arg LP/P rs1564061982 Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant (SMALED2B) [MIM:618291] BICD2 Q8TD16 VAR_081855 p.Cys542Trp LP/P - Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant (SMALED2B) [MIM:618291] BICD2 Q8TD16 VAR_081857 p.Arg694Cys LP/P rs797045412 Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant (SMALED2B) [MIM:618291] BICDL2 A1A5D9 VAR_034978 p.Gln273Arg LB/B rs2244494 - BICDL2 A1A5D9 VAR_060543 p.Gln55Glu LB/B rs7204908 - BICRA Q9NZM4 VAR_059665 p.Thr1044Ala LB/B rs13346368 - BICRA Q9NZM4 VAR_061663 p.Pro683Ser LB/B rs3745762 - BICRA Q9NZM4 VAR_085989 p.Glu64Asp US - Coffin-Siris syndrome 12 (CSS12) [MIM:619325] BICRA Q9NZM4 VAR_085991 p.Glu1423Lys US - Coffin-Siris syndrome 12 (CSS12) [MIM:619325] BID P55957 VAR_018845 p.Ser10Gly LB/B rs8190315 - BID P55957 VAR_025332 p.His162Gln LB/B rs17853595 - BID P55957 VAR_061041 p.Met194Thr LB/B rs59225839 - BIK Q13323 VAR_029179 p.Glu19Lys LB/B rs4988415 - BIK Q13323 VAR_029180 p.Leu148Pro LB/B rs11574527 - BIK Q13323 VAR_048420 p.Thr26Ile LB/B rs11090143 - BIN1 O00499 VAR_037425 p.Lys35Asn LP/P rs121909273 Myopathy, centronuclear, 2 (CNM2) [MIM:255200] BIN1 O00499 VAR_037426 p.Asp151Asn LP/P rs121909274 Myopathy, centronuclear, 2 (CNM2) [MIM:255200] BIN1 O00499 VAR_081081 p.Arg24Cys US - - BIN1 O00499 VAR_081082 p.Arg145Cys LP/P rs1249621033 Myopathy, centronuclear, 2 (CNM2) [MIM:255200] BIN1 O00499 VAR_081083 p.Arg154Gln LP/P rs267606681 Myopathy, centronuclear, 2 (CNM2) [MIM:255200] BIN1 O00499 VAR_081084 p.Arg234Cys LP/P rs777176261 Myopathy, centronuclear, 2 (CNM2) [MIM:255200] BIN2 Q9UBW5 VAR_028883 p.Ser48Asn LB/B rs7312857 - BIN2 Q9UBW5 VAR_028884 p.Asn529Asp LB/B rs7954976 - BIRC2 Q13490 VAR_025016 p.Met453Val LB/B rs370745983 - BIRC2 Q13490 VAR_025017 p.Ala506Val LB/B rs34510872 - BIRC2 Q13490 VAR_025018 p.Pro549Ser LB/B rs35494784 - BIRC2 Q13490 VAR_049535 p.Met453Ile LB/B rs34749508 - BIRC3 Q13489 VAR_021069 p.Lys260Arg LB/B rs2276113 - BIRC3 Q13489 VAR_021070 p.Arg401Lys LB/B rs17881197 - BIRC3 Q13489 VAR_049536 p.Val386Met LB/B rs12222256 - BIRC5 O15392 VAR_021071 p.Lys129Glu LB/B rs2071214 - BIRC7 Q96CA5 VAR_020253 p.Glu223Gln LB/B rs1077019 - BIRC8 Q96P09 VAR_028282 p.His196Tyr LB/B rs8109165 - BIRC8 Q96P09 VAR_055944 p.Ala156Thr LB/B rs35880972 - BIRC8 Q96P09 VAR_055945 p.Leu165Ser LB/B rs34092035 - BIRC8 Q96P09 VAR_055946 p.Ala225Thr LB/B rs35700345 - BIRC8 Q96P09 VAR_055947 p.Ala225Val LB/B rs34683072 - BLCAP P62952 VAR_068908 p.Tyr2Cys LB/B rs11557677 - BLCAP P62952 VAR_068909 p.Gln5Arg US - - BLCAP P62952 VAR_068910 p.Lys15Arg LB/B rs11557676 - BLID Q8IZY5 VAR_056750 p.Ala76Asp LB/B rs7116084 - BLK P51451 VAR_041672 p.Thr48Ile LB/B rs35339715 - BLK P51451 VAR_041673 p.Ala71Thr LB/B rs55758736 - BLM P54132 VAR_006901 p.Gln672Arg LP/P rs747281324 Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_006902 p.Thr843Ile LP/P rs137853152 Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_006903 p.Cys1055Ser LP/P rs367543029 Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_009138 p.Gly891Glu LP/P rs763471784 Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_009139 p.Cys901Tyr LP/P rs758311406 Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_009140 p.Cys1036Phe LP/P rs137853153 Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_014912 p.Ser1209Thr LB/B rs1801256 - BLM P54132 VAR_016032 p.Ile841Thr LP/P rs767086502 Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_016033 p.Cys878Arg LP/P - Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_022295 p.Lys137Arg LB/B rs28384988 - BLM P54132 VAR_022296 p.Thr298Met LB/B rs28384991 - BLM P54132 VAR_022297 p.Arg591Gln LB/B rs28385012 - BLM P54132 VAR_022298 p.Pro868Leu LB/B rs2227935 - BLM P54132 VAR_022299 p.Val1205Ile LB/B rs28385141 - BLM P54132 VAR_022300 p.Glu1213Lys LB/B rs28385142 - BLM P54132 VAR_022301 p.Val1321Ile LB/B rs7167216 - BLM P54132 VAR_051731 p.Ala1043Asp LB/B rs2229035 - BLMH Q13867 VAR_010896 p.Ile443Val LB/B rs1050565 - BLOC1S2 Q6QNY1 VAR_054068 p.Ser13Arg LB/B rs33965491 - BLTP1 Q2LD37 VAR_038547 p.Ile978Thr LB/B rs6848868 - BLTP1 Q2LD37 VAR_038548 p.Thr4352Ala LB/B rs2306369 - BLTP1 Q2LD37 VAR_038549 p.Thr4786Ala LB/B rs10017270 - BLTP1 Q2LD37 VAR_061241 p.Asp1951Glu LB/B rs56363411 - BLTP1 Q2LD37 VAR_061242 p.Ser2521Arg LB/B rs45608936 - BLTP1 Q2LD37 VAR_080685 p.Arg968Cys US rs1051597475 Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822] BLTP1 Q2LD37 VAR_080686 p.Tyr1329Cys US rs770791100 Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822] BLTP1 Q2LD37 VAR_080687 p.Met1573Ile US rs368227278 Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822] BLTP1 Q2LD37 VAR_080688 p.Val1867Met US rs1554025656 Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822] BLTP1 Q2LD37 VAR_080689 p.Arg1958Gln US rs1263871665 Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822] BLTP1 Q2LD37 VAR_080690 p.Pro3050His US - Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822] BLTP1 Q2LD37 VAR_080691 p.Gly3385Arg US rs1554059454 Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822] BLTP1 Q2LD37 VAR_083180 p.Asn216Lys US - Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822] BLTP1 Q2LD37 VAR_083181 p.Asp228Gly US - Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822] BLTP2 Q14667 VAR_027352 p.His986Gln LB/B rs16964472 - BLTP2 Q14667 VAR_027353 p.Val1516Gly LB/B rs12602520 - BLTP2 Q14667 VAR_052706 p.Arg2060Gly LB/B rs16964462 - BLTP3A Q6BDS2 VAR_051474 p.Lys404Asn LB/B rs16894945 - BLTP3A Q6BDS2 VAR_051475 p.Gln454Arg LB/B rs11755393 - BLTP3A Q6BDS2 VAR_051476 p.Lys854Glu LB/B rs3734265 - BLTP3A Q6BDS2 VAR_051477 p.Gln984His LB/B rs9469913 - BLTP3A Q6BDS2 VAR_051478 p.Met1098Thr LB/B rs13205210 - BLTP3B A0JNW5 VAR_051467 p.Ser1147Leu LB/B rs7296162 - BLTP3B A0JNW5 VAR_051468 p.Ile1175Val LB/B rs17029945 - BLTP3B A0JNW5 VAR_061719 p.Met1111Leu LB/B rs58214704 - BLVRA P53004 VAR_014851 p.Gln56Arg LB/B rs1050916 - BLVRA P53004 VAR_019230 p.Ala3Thr LB/B rs699512 - BLVRA P53004 VAR_019231 p.Leu37Val LB/B rs17245918 - BLVRB P30043 VAR_019168 p.Arg46Gln LB/B rs11547746 - BLZF1 Q9H2G9 VAR_028142 p.Gln40Arg LB/B rs1028180 - BLZF1 Q9H2G9 VAR_028143 p.Arg196Gln LB/B rs1064274 - BMAL2 Q8WYA1 VAR_030158 p.Asn340Ser LB/B rs1037921 - BMAL2 Q8WYA1 VAR_030159 p.Ala574Val LB/B rs11049005 - BMI1 P35226 VAR_052087 p.Cys18Tyr LB/B rs1042059 - BMP1 P13497 VAR_036141 p.Asp45His US - A breast cancer sample BMP1 P13497 VAR_051584 p.Val719Ile LB/B rs11996036 - BMP1 P13497 VAR_067224 p.Phe249Leu LP/P rs398122891 Osteogenesis imperfecta 13 (OI13) [MIM:614856] BMP1 P13497 VAR_069096 p.Gly12Arg LP/P rs318240762 Osteogenesis imperfecta 13 (OI13) [MIM:614856] BMP1 P13497 VAR_072248 p.Met270Val LP/P rs786205219 Osteogenesis imperfecta 13 (OI13) [MIM:614856] BMP10 O95393 VAR_052572 p.Thr200Ser LB/B rs2231342 - BMP10 O95393 VAR_052573 p.Asn250Lys LB/B rs2231345 - BMP15 O95972 VAR_021195 p.Tyr235Cys LP/P rs104894765 Ovarian dysgenesis 2 (ODG2) [MIM:300510] BMP15 O95972 VAR_058974 p.Ser5Arg LB/B rs113099187 - BMP15 O95972 VAR_058975 p.Arg61Gln LP/P - Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058976 p.Arg61Trp LP/P rs144392417 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058977 p.Arg68Trp LP/P rs104894763 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058978 p.Arg76Cys LP/P rs104894766 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058979 p.Arg76His LP/P rs1557279925 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058980 p.Asn103Ser LB/B rs41308602 - BMP15 O95972 VAR_058981 p.Arg138His LP/P rs371418883 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058982 p.Leu148Pro LP/P rs114823607 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058983 p.Ala180Phe US - - BMP15 O95972 VAR_058984 p.Ala180Thr US rs104894767 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058985 p.Asn196Lys LP/P - Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058986 p.Arg206His LP/P rs782516193 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058987 p.Trp221Arg LP/P rs375284458 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058988 p.Ile243Val LP/P rs782379521 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_066932 p.His200Tyr LB/B rs202165852 - BMP15 O95972 VAR_066933 p.Arg329Cys LP/P rs782375794 Premature ovarian failure 4 (POF4) [MIM:300510] BMP2 P12643 VAR_020061 p.Ser37Ala LB/B rs2273073 - BMP2 P12643 VAR_020062 p.Ala106Thr LB/B rs2273074 - BMP2 P12643 VAR_024232 p.Arg190Ser LB/B rs235768 - BMP2 P12643 VAR_052568 p.Pro77Ser LB/B rs36105541 - BMP2 P12643 VAR_052569 p.Leu161Ser LB/B rs34183594 - BMP2 P12643 VAR_052570 p.Asp387Gly LB/B rs11545591 - BMP2K Q9NSY1 VAR_040388 p.Val68Met US rs770167074 A lung squamous cell carcinoma sample BMP2K Q9NSY1 VAR_040389 p.Asp212Val LB/B rs56143363 - BMP2K Q9NSY1 VAR_040390 p.Arg288His LB/B rs55782848 - BMP2K Q9NSY1 VAR_051618 p.Gly405Ser LB/B rs2288255 - BMP2K Q9NSY1 VAR_051619 p.Thr1002Ser LB/B rs12507099 - BMP2K Q9NSY1 VAR_059765 p.Gln486His LB/B rs2114202 - BMP3 P12645 VAR_020063 p.Arg192Gln LB/B rs3733549 - BMP3 P12645 VAR_047418 p.Gln176Lys LB/B rs34213771 - BMP3 P12645 VAR_047419 p.Gln176Leu LB/B rs34847147 - BMP3 P12645 VAR_047420 p.Leu205Phe LB/B rs6831040 - BMP3 P12645 VAR_047421 p.Thr222Met LB/B rs34505126 - BMP4 P12644 VAR_016174 p.Val152Ala LB/B rs17563 - BMP4 P12644 VAR_043531 p.Ser91Cys LP/P rs121912767 Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625] BMP4 P12644 VAR_043532 p.Glu93Gly LP/P rs121912765 Microphthalmia, syndromic, 6 (MCOPS6) [MIM:607932] BMP4 P12644 VAR_043533 p.Thr116Ser LB/B rs750427266 - BMP4 P12644 VAR_043534 p.Asn150Lys LB/B rs767216159 - BMP4 P12644 VAR_043535 p.Thr225Ala LB/B rs144556455 - BMP4 P12644 VAR_043536 p.Arg226Trp LB/B rs140590144 - BMP4 P12644 VAR_043537 p.Ser367Thr LB/B rs1320581580 - BMP4 P12644 VAR_058314 p.Thr102Ala LB/B rs202159001 - BMP4 P12644 VAR_058315 p.Arg162Gln LP/P rs770493925 Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625] BMP4 P12644 VAR_058316 p.Gly168Ala LB/B - - BMP4 P12644 VAR_058317 p.Arg287His LP/P rs121912768 Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625] BMP4 P12644 VAR_058318 p.Ala346Val LP/P rs121912766 Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625] BMP5 P22003 VAR_047054 p.His2Tyr LB/B rs9475437 - BMP5 P22003 VAR_061896 p.Asn121Ser LB/B rs35124644 - BMP6 P22004 VAR_036200 p.Ala343Asp US - A colorectal cancer sample BMP6 P22004 VAR_036201 p.Pro476Leu US rs909733732 A colorectal cancer sample BMP6 P22004 VAR_047055 p.Arg257Cys LB/B rs10458105 - BMP6 P22004 VAR_087884 p.Pro95Ser LP/P rs199518216 Iron overload (IO) [MIM:620121] BMP6 P22004 VAR_087885 p.Leu96Pro LP/P rs200573175 Iron overload (IO) [MIM:620121] BMP6 P22004 VAR_087886 p.Glu112Gln LP/P rs201486498 Iron overload (IO) [MIM:620121] BMP6 P22004 VAR_087887 p.Gln113Glu LP/P rs7745236 Iron overload (IO) [MIM:620121] BMP6 P22004 VAR_087889 p.Arg257His LP/P rs148916269 Iron overload (IO) [MIM:620121] BMP6 P22004 VAR_087890 p.Val394Met LP/P rs142167481 Iron overload (IO) [MIM:620121] BMP7 P18075 VAR_064058 p.Leu198Pro LB/B rs376798352 - BMP7 P18075 VAR_064059 p.Asn321Ser LB/B rs61733438 - BMP8A Q7Z5Y6 VAR_052571 p.Arg293His LB/B rs6525 - BMP8A Q7Z5Y6 VAR_059859 p.Met84Val LB/B rs4660269 - BMP8B P34820 VAR_014474 p.His293Arg LB/B rs17403490 - BMPER Q8N8U9 VAR_028166 p.Arg555Trp LB/B rs10249320 - BMPER Q8N8U9 VAR_065823 p.Pro370Leu LP/P rs387906993 Diaphanospondylodysostosis (DSD) [MIM:608022] BMPR1A P36894 VAR_015533 p.Cys124Arg LP/P rs199476087 Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_015534 p.Ala338Asp LP/P rs199476086 Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_015535 p.Cys376Tyr LP/P rs199476088 Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_022828 p.Tyr62Asp LP/P - Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_022829 p.Cys82Tyr LP/P - Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_022830 p.Cys130Arg LP/P rs1131691168 Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_022831 p.Arg443Cys LP/P rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_022832 p.Met470Thr LP/P rs199476089 Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_041397 p.Pro2Thr LB/B rs11528010 - BMPR1A P36894 VAR_041398 p.Phe58Tyr US - A renal clear cell carcinoma sample BMPR1A P36894 VAR_041399 p.Val450Met LB/B rs55932635 - BMPR1A P36894 VAR_041400 p.Arg486Gln US rs752802257 A gastric adenocarcinoma sample BMPR1A P36894 VAR_077353 p.Met460Thr US rs758309022 - BMPR1B O00238 VAR_023819 p.Ile200Lys LP/P rs121434417 Brachydactyly A2 (BDA2) [MIM:112600] BMPR1B O00238 VAR_023820 p.Arg486Trp LP/P rs121434418 Brachydactyly A2 (BDA2) [MIM:112600] BMPR1B O00238 VAR_037967 p.Arg486Gln LP/P rs121434419 Brachydactyly A2 (BDA2) [MIM:112600] BMPR1B O00238 VAR_041401 p.Arg31His US rs200035802 A gastric adenocarcinoma sample BMPR1B O00238 VAR_041402 p.Arg149Trp LB/B rs34231464 - BMPR1B O00238 VAR_041403 p.Arg224His LB/B rs35973133 - BMPR1B O00238 VAR_041404 p.Asp297Asn US - A metastatic melanoma sample BMPR1B O00238 VAR_041405 p.Arg371Gln LB/B rs34970181 - BMPR1B O00238 VAR_075520 p.Arg31Cys US rs745854387 Acromesomelic dysplasia 3 (AMD3) [MIM:609441] BMPR1B O00238 VAR_075521 p.Cys53Arg LP/P rs863225041 Acromesomelic dysplasia 3 (AMD3) [MIM:609441] BMPR1B O00238 VAR_076406 p.Lys325Asn LP/P rs869025614 Brachydactyly A1, D (BDA1D) [MIM:616849] BMPR2 Q13873 VAR_013670 p.Cys60Tyr LP/P rs1085307172 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013671 p.Cys117Tyr LP/P rs1085307215 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013672 p.Cys118Trp LP/P rs137852743 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013673 p.Cys123Arg LP/P rs137852750 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013674 p.Cys123Ser LP/P rs137852750 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013675 p.Glu224Asp LB/B rs754343081 - BMPR2 Q13873 VAR_013676 p.Cys347Tyr LP/P rs137852744 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013677 p.Cys420Arg LP/P rs1085307324 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013678 p.Cys483Arg LP/P rs1085307354 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013679 p.Asp485Gly LP/P rs137852745 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013680 p.Arg491Gln LP/P rs137852749 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013681 p.Arg491Trp LP/P rs137852746 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013682 p.Lys512Thr LP/P rs1085307364 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013683 p.Asn519Lys LP/P rs1085307365 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_019996 p.Ser775Asn LB/B rs2228545 - BMPR2 Q13873 VAR_033109 p.Gln82His LP/P rs1085307185 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_033110 p.Gly182Asp LP/P rs137852754 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_033111 p.Arg899Pro LP/P rs137852752 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_073041 p.Tyr67Cys LP/P rs1085307177 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_073042 p.Ser863Asn LP/P rs1006246556 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079588 p.Ser64Arg US - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079589 p.Ile77Leu US - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079590 p.Cys84Phe LP/P rs1085307197 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079591 p.His87Tyr US - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079592 p.Gln92Leu US - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079593 p.Gln109His US - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079594 p.Pro138Ala US - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079595 p.Ala162Pro US - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079597 p.Arg248Gly US - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079598 p.Asp264Asn US - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079600 p.Val341Met US rs767882551 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079601 p.Lys467Arg US - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMS1 Q14692 VAR_057503 p.Arg237His LB/B rs2272881 - BMS1 Q14692 VAR_057504 p.Ser552Pro LB/B rs3814621 - BMS1 Q14692 VAR_057505 p.Lys652Arg LB/B rs787795 - BMS1 Q14692 VAR_057506 p.Met884Val LB/B rs2419109 - BMS1 Q14692 VAR_057507 p.Val1141Ile LB/B rs12764004 - BMS1 Q14692 VAR_072539 p.Arg930His LP/P rs587777706 Aplasia cutis congenita, non-syndromic (ACC) [MIM:107600] BMX P51813 VAR_041674 p.Ser284Leu LB/B rs35353387 - BMX P51813 VAR_041675 p.Arg670Trp US rs1029888196 A lung large cell carcinoma sample BNC1 Q01954 VAR_083487 p.Leu532Pro US rs149100994 Premature ovarian failure 16 (POF16) [MIM:618723] BNC2 Q6ZN30 VAR_033543 p.Thr782Ala LB/B rs3739714 - BNC2 Q6ZN30 VAR_052707 p.Leu550Val LB/B rs4961490 - BNC2 Q6ZN30 VAR_083492 p.Thr158Ile US rs144242525 Lower urinary tract obstruction, congenital (LUTO) [MIM:618612] BNC2 Q6ZN30 VAR_083493 p.Glu346Gln US rs945575406 Lower urinary tract obstruction, congenital (LUTO) [MIM:618612] BNC2 Q6ZN30 VAR_083495 p.His888Arg LP/P rs1563774686 Lower urinary tract obstruction, congenital (LUTO) [MIM:618612] BNIP1 Q12981 VAR_019169 p.Gln14His LB/B rs5745100 - BNIP2 Q12982 VAR_018837 p.Ser24Thr LB/B rs6151509 - BNIP5 P0C671 VAR_056808 p.Leu582Val LB/B rs743852 - BNIPL Q7Z465 VAR_051917 p.Ser65Asn LB/B rs12068365 - BNIPL Q7Z465 VAR_051918 p.Ser226Asn LB/B rs12068365 - BOC Q9BWV1 VAR_033600 p.Lys883Asn LB/B rs35536878 - BOC Q9BWV1 VAR_033601 p.Gln915His LB/B rs3814405 - BOC Q9BWV1 VAR_035503 p.Val713Met US rs367589886 A breast cancer sample BOD1L1 Q8NFC6 VAR_035220 p.Thr429Met LB/B rs2035820 - BOD1L1 Q8NFC6 VAR_035221 p.Leu650Ile LB/B rs1971278 - BOD1L1 Q8NFC6 VAR_035222 p.Ala1369Gly LB/B rs17745712 - BOD1L1 Q8NFC6 VAR_035223 p.Thr1448Ala LB/B rs17745676 - BOD1L1 Q8NFC6 VAR_035224 p.Thr1515Ala LB/B rs16888885 - BOD1L1 Q8NFC6 VAR_035225 p.Val1645Ile LB/B rs17807493 - BOD1L1 Q8NFC6 VAR_035226 p.Gly2361Ser LB/B rs3822227 - BOD1L1 Q8NFC6 VAR_035227 p.Pro2396Leu LB/B rs3733557 - BOD1L1 Q8NFC6 VAR_036124 p.Ser246Ile US - A breast cancer sample BOD1L1 Q8NFC6 VAR_061166 p.Val2944Met LB/B rs28538279 - BOLA1 Q9Y3E2 VAR_033630 p.Gly98Ala LB/B rs1044808 - BOLA3 Q53S33 VAR_076180 p.His96Arg LP/P rs148674363 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2) [MIM:614299] BOLA3 Q53S33 VAR_077911 p.Ile67Asn LP/P rs550855238 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2) [MIM:614299] BORA Q6PGQ7 VAR_030110 p.Ser210Leu LB/B rs9543107 - BORA Q6PGQ7 VAR_030111 p.Ser308Phe LB/B rs1146858 - BORCS5 Q969J3 VAR_038840 p.Ser41Cys LB/B rs3741795 - BORCS5 Q969J3 VAR_038841 p.Asp191Asn LB/B rs3751262 - BPGM P07738 VAR_065367 p.Arg62Gln LP/P rs751972865 Erythrocytosis, familial, 8 (ECYT8) [MIM:222800] BPGM P07738 VAR_065368 p.Arg90Cys LP/P rs121964925 Erythrocytosis, familial, 8 (ECYT8) [MIM:222800] BPI P17213 VAR_018401 p.Ala16Val LB/B rs1341023 - BPI P17213 VAR_018402 p.Ala196Val LB/B rs5743509 - BPI P17213 VAR_018403 p.Glu216Lys LB/B rs4358188 - BPI P17213 VAR_049728 p.Ala12Thr LB/B rs5743497 - BPI P17213 VAR_049729 p.Ala12Val LB/B rs5743498 - BPI P17213 VAR_049730 p.Arg90Cys LB/B rs5743500 - BPI P17213 VAR_049732 p.Glu140Gln LB/B rs5743506 - BPI P17213 VAR_049733 p.Ala280Val LB/B rs5741804 - BPI P17213 VAR_049734 p.Val377Ile LB/B rs5743524 - BPI P17213 VAR_049735 p.Asn404Asp LB/B rs5741809 - BPI P17213 VAR_049736 p.Lys451Glu LB/B rs5743542 - BPIFA2 Q96DR5 VAR_049751 p.Gly43Arg LB/B rs6059139 - BPIFA2 Q96DR5 VAR_049752 p.Lys113Glu LB/B rs17304572 - BPIFA2 Q96DR5 VAR_049753 p.Arg221Cys LB/B rs6120140 - BPIFA3 Q9BQP9 VAR_049754 p.Ala41Glu LB/B rs17124391 - BPIFA3 Q9BQP9 VAR_049755 p.Val136Ile LB/B rs3818222 - BPIFB1 Q8TDL5 VAR_016756 p.Ile84Val LB/B rs1078761 - BPIFB1 Q8TDL5 VAR_016757 p.Ser479Thr LB/B rs1999663 - BPIFB1 Q8TDL5 VAR_023361 p.Ser298Pro LB/B rs6120221 - BPIFB1 Q8TDL5 VAR_023362 p.Ser313Ile LB/B rs6120222 - BPIFB1 Q8TDL5 VAR_049747 p.Thr140Ala LB/B rs34578060 - BPIFB1 Q8TDL5 VAR_049748 p.Val284Met LB/B rs6141383 - BPIFB1 Q8TDL5 VAR_049749 p.Asp287His LB/B rs34548457 - BPIFB1 Q8TDL5 VAR_049750 p.Thr464Ser LB/B rs17856249 - BPIFB2 Q8N4F0 VAR_024515 p.Lys31Met LB/B rs6088066 - BPIFB2 Q8N4F0 VAR_036550 p.Ala20Val US - A colorectal cancer sample BPIFB2 Q8N4F0 VAR_049740 p.Ala63Val LB/B rs34128772 - BPIFB3 P59826 VAR_049742 p.Val224Met LB/B rs4911290 - BPIFB3 P59826 VAR_049743 p.Thr286Met LB/B rs2093066 - BPIFB3 P59826 VAR_049744 p.His330Gln LB/B rs6057717 - BPIFB3 P59826 VAR_049745 p.Tyr365Cys LB/B rs6059063 - BPIFB3 P59826 VAR_049746 p.Pro445Ser LB/B rs378098 - BPIFB4 P59827 VAR_055998 p.Asp199Gly LB/B rs4339026 - BPIFB4 P59827 VAR_055999 p.Gly206Trp LB/B rs2424943 - BPIFB4 P59827 VAR_056000 p.Ile268Val LB/B rs2070325 - BPIFB4 P59827 VAR_056001 p.Asn320Thr LB/B rs2889732 - BPIFB4 P59827 VAR_059372 p.Gly167Trp LB/B rs2424943 - BPIFB4 P59827 VAR_059373 p.Ile229Val LB/B rs2070325 - BPIFB4 P59827 VAR_069042 p.Phe527Leu LB/B rs11699009 - BPIFB4 P59827 VAR_069043 p.Thr533Ile LB/B rs11696307 - BPIFB6 Q8NFQ5 VAR_024518 p.Val97Ile LB/B rs2070317 - BPIFB6 Q8NFQ5 VAR_033632 p.Thr16Met LB/B rs17301126 - BPIFB6 Q8NFQ5 VAR_033633 p.Pro149Thr LB/B rs11907355 - BPIFB6 Q8NFQ5 VAR_033634 p.Ser347Gly LB/B rs4911287 - BPIFB6 Q8NFQ5 VAR_065088 p.Arg296His LB/B rs79809934 - BPIFC Q8NFQ6 VAR_024516 p.Val269Ala LB/B rs2076051 - BPIFC Q8NFQ6 VAR_024517 p.Ser451Pro LB/B rs5998478 - BPIFC Q8NFQ6 VAR_033631 p.Val302Leu LB/B rs5994570 - BPIFC Q8NFQ6 VAR_049741 p.Glu479Ala LB/B rs35856742 - BPNT2 Q9NX62 VAR_065847 p.Asp177Asn LP/P rs387907101 Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) [MIM:614078] BPNT2 Q9NX62 VAR_065848 p.Thr183Pro LP/P rs387907102 Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) [MIM:614078] BPTF Q12830 VAR_080531 p.Ala1924Thr LP/P rs1425998598 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) [MIM:617755] BPTF Q12830 VAR_080532 p.Met2996Arg LP/P rs782736894 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) [MIM:617755] BRAF P15056 VAR_018512 p.Gly466Val LP/P rs121913351 Lung cancer (LNCR) [MIM:211980] BRAF P15056 VAR_018513 p.Leu597Arg LP/P rs121913366 Lung cancer (LNCR) [MIM:211980] BRAF P15056 VAR_018613 p.Arg462Ile LP/P rs180177032 Colorectal cancer (CRC) [MIM:114500] BRAF P15056 VAR_018614 p.Ile463Ser LP/P rs180177033 Colorectal cancer (CRC) [MIM:114500] BRAF P15056 VAR_018615 p.Gly464Glu LP/P rs121913348 Colorectal cancer (CRC) [MIM:114500] BRAF P15056 VAR_018616 p.Gly464Val US rs121913348 A colorectal cancer cell line BRAF P15056 VAR_018617 p.Gly466Ala US rs121913351 Melanoma BRAF P15056 VAR_018618 p.Gly466Glu US rs121913351 Melanoma BRAF P15056 VAR_018620 p.Gly469Ala LP/P rs121913355 Familial non-Hodgkin lymphoma (NHL) [MIM:605027] BRAF P15056 VAR_018621 p.Gly469Glu US rs121913355 Colon cancer BRAF P15056 VAR_018621 p.Gly469Glu LP/P rs121913355 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_018622 p.Gly469Arg LP/P rs121913357 Familial non-Hodgkin lymphoma (NHL) [MIM:605027] BRAF P15056 VAR_018623 p.Glu586Lys US rs121913340 Ovarian cancer BRAF P15056 VAR_018624 p.Asp594Gly LP/P rs121913338 Familial non-Hodgkin lymphoma (NHL) [MIM:605027] BRAF P15056 VAR_018625 p.Phe595Leu LP/P rs121913341 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_018626 p.Gly596Arg US rs121913361 A colorectal adenocarcinoma sample BRAF P15056 VAR_018627 p.Leu597Val LP/P rs121913369 Noonan syndrome 7 (NS7) [MIM:613706] BRAF P15056 VAR_018628 p.Val600Asp US rs121913377 A melanoma cell line BRAF P15056 VAR_018629 p.Val600Glu LP/P rs113488022 Colorectal cancer (CRC) [MIM:114500] BRAF P15056 VAR_018630 p.Lys601Glu LP/P rs121913364 Colorectal cancer (CRC) [MIM:114500] BRAF P15056 VAR_026113 p.Ala246Pro LP/P rs180177034 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_026114 p.Gln257Arg LP/P rs180177035 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_026115 p.Leu485Phe LP/P rs180177036 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_026116 p.Lys499Glu LP/P rs180177037 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_026117 p.Glu501Gly LP/P rs180177039 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_026118 p.Glu501Lys LP/P rs180177038 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_026119 p.Asn581Asp LP/P rs180177040 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_035096 p.Ser467Ala LP/P rs869025606 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_035097 p.Phe468Ser LP/P rs397507473 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_035098 p.Gly596Val LP/P rs397507483 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_040391 p.Pro301Ser LB/B rs34776339 - BRAF P15056 VAR_040392 p.Gly469Val US rs121913355 A colorectal adenocarcinoma sample BRAF P15056 VAR_040393 p.Asn581Ser US rs121913370 A colorectal adenocarcinoma sample BRAF P15056 VAR_058620 p.Thr241Met LP/P rs387906660 Noonan syndrome 7 (NS7) [MIM:613706] BRAF P15056 VAR_058621 p.Thr241Pro LP/P rs387906661 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_058621 p.Thr241Pro LP/P rs387906661 LEOPARD syndrome 3 (LPRD3) [MIM:613707] BRAF P15056 VAR_058622 p.Thr241Arg LP/P rs387906660 Noonan syndrome 7 (NS7) [MIM:613706] BRAF P15056 VAR_058623 p.Leu245Phe LP/P rs397507466 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_058624 p.Glu275Lys LP/P - Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_058625 p.Lys499Asn LP/P rs397507476 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_058626 p.Leu525Pro LP/P rs869025340 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_058627 p.Trp531Cys LP/P rs606231228 Noonan syndrome 7 (NS7) [MIM:613706] BRAF P15056 VAR_058628 p.Thr599Arg LP/P rs121913375 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_058629 p.Lys601Gln LP/P rs121913364 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_058630 p.Asp638Glu LP/P rs180177042 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_058631 p.Gln709Arg LP/P rs397507486 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_065171 p.Thr244Pro LP/P rs397507465 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_065172 p.Gln262Lys LP/P rs397507470 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_065173 p.Asn580Asp LP/P - Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAT1 Q6PJG6 VAR_031202 p.Arg20Gly LB/B rs17856488 - BRAT1 Q6PJG6 VAR_061594 p.Arg737Trp LB/B rs60152725 - BRAT1 Q6PJG6 VAR_081168 p.Leu140Pro US rs1085307958 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) [MIM:618056] BRAT1 Q6PJG6 VAR_081168 p.Leu140Pro US rs1085307958 Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) [MIM:614498] BRAT1 Q6PJG6 VAR_081169 p.Arg609Trp US rs886039312 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) [MIM:618056] BRAT1 Q6PJG6 VAR_081170 p.Ala642Glu US rs200502048 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) [MIM:618056] BRCA1 P38398 VAR_007754 p.Val11Ala US rs80357017 - BRCA1 P38398 VAR_007755 p.Ile21Val US rs80357406 - BRCA1 P38398 VAR_007756 p.Leu22Ser LP/P rs80357438 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007757 p.Cys61Gly LP/P rs28897672 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007757 p.Cys61Gly LP/P rs28897672 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_007758 p.Cys64Gly LP/P rs80357064 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007759 p.Cys64Tyr LB/B rs55851803 - BRCA1 P38398 VAR_007760 p.His239Arg LB/B rs80357396 - BRCA1 P38398 VAR_007761 p.Val271Met LP/P rs80357244 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007762 p.Gln356Arg LB/B rs1799950 - BRCA1 P38398 VAR_007764 p.Ile379Met LB/B rs56128296 - BRCA1 P38398 VAR_007765 p.Phe461Leu LP/P rs56046357 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007766 p.Tyr465Asp LP/P rs397508869 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007767 p.Arg507Ile US rs80357224 - BRCA1 P38398 VAR_007768 p.Gly552Val LP/P rs397508893 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007769 p.Asp693Asn LB/B rs4986850 - BRCA1 P38398 VAR_007770 p.Val772Ala LB/B rs80357467 - BRCA1 P38398 VAR_007771 p.Lys820Glu LB/B rs56082113 - BRCA1 P38398 VAR_007772 p.Thr826Lys US rs28897683 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007773 p.Arg841Trp US rs1800709 Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_007774 p.Pro871Leu LB/B rs799917 - BRCA1 P38398 VAR_007775 p.Leu892Ser LP/P rs397508994 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007776 p.Gly960Asp LP/P rs397509022 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007777 p.Met1008Ile LB/B rs1800704 - BRCA1 P38398 VAR_007778 p.Thr1025Ile LP/P rs397509034 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007779 p.Glu1038Gly LB/B rs16941 - BRCA1 P38398 VAR_007780 p.Ser1040Asn LB/B rs4986852 - BRCA1 P38398 VAR_007781 p.Val1047Ala LP/P rs397509037 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007782 p.Pro1150Ser LP/P rs80357272 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007783 p.Lys1183Arg LB/B rs16942 - BRCA1 P38398 VAR_007784 p.Glu1219Asp US rs80356876 - BRCA1 P38398 VAR_007785 p.Arg1347Gly LB/B rs28897689 - BRCA1 P38398 VAR_007786 p.Ser1431Pro LB/B - - BRCA1 P38398 VAR_007787 p.Arg1443Gly US rs41293455 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007788 p.Ser1512Ile LB/B rs1800744 - BRCA1 P38398 VAR_007789 p.Thr1561Ile US rs56158747 - BRCA1 P38398 VAR_007790 p.Lys1606Glu US rs80356943 - BRCA1 P38398 VAR_007791 p.Ser1613Gly LB/B rs1799966 - BRCA1 P38398 VAR_007792 p.Met1628Val US rs80357465 - BRCA1 P38398 VAR_007793 p.Met1628Thr US rs4986854 Some patients with sporadic breast cancer BRCA1 P38398 VAR_007794 p.Pro1637Leu LB/B rs80357048 - BRCA1 P38398 VAR_007795 p.Met1652Ile LB/B rs1799967 - BRCA1 P38398 VAR_007796 p.Ala1708Glu LP/P rs28897696 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007797 p.Val1713Gly LB/B - - BRCA1 P38398 VAR_007798 p.Pro1749Arg US rs80357462 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_007799 p.Met1775Arg LP/P rs41293463 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_008759 p.Glu227Lys US - Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_008760 p.Pro346Ser US rs80357015 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_008761 p.Lys1406Asn LB/B rs1800707 - BRCA1 P38398 VAR_008762 p.Ala1641Pro US rs1800726 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_008763 p.Asp1692Asn US rs80187739 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_008764 p.Pro1776Ser US rs1800757 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_008765 p.Pro1812Ser US rs1800751 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_019944 p.Gly275Ser LB/B rs8176153 - BRCA1 P38398 VAR_019945 p.Ser1140Gly US rs2227945 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_019946 p.Thr1620Ala LB/B rs8176219 - BRCA1 P38398 VAR_020110 p.Asn723Asp LB/B rs4986845 - BRCA1 P38398 VAR_020111 p.Phe989Ser LB/B rs4986848 - BRCA1 P38398 VAR_020112 p.Arg1443Gln LB/B rs4986849 - BRCA1 P38398 VAR_020679 p.Glu10Lys LP/P - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020679 p.Glu10Lys LP/P - Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020680 p.Glu23Lys LP/P - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020680 p.Glu23Lys LP/P - Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020681 p.Arg71Lys US rs80356913 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020682 p.Asn656Ile LB/B - - BRCA1 P38398 VAR_020683 p.Asp749Tyr LP/P rs80357114 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020684 p.His835Tyr US rs751656678 Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020685 p.Tyr856His US rs80356892 A patient with sporadic breast cancer BRCA1 P38398 VAR_020686 p.Arg866Gln US - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020687 p.His888Tyr US rs80357480 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020688 p.Glu1060Ala LB/B rs80357184 - BRCA1 P38398 VAR_020689 p.Ser1139Ile US rs80357228 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020690 p.Ser1187Ile LP/P - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020690 p.Ser1187Ile LP/P - Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020691 p.Gln1200His LP/P rs56214134 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020691 p.Gln1200His LP/P rs56214134 Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020692 p.Arg1204Ile LP/P - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020693 p.Lys1207Asn LP/P - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020694 p.Glu1210Gly US rs1060502347 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020695 p.Ser1217Tyr LP/P - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020695 p.Ser1217Tyr LP/P - Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020696 p.Phe1226Leu LP/P - Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020697 p.Arg1243Gly LP/P - Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020698 p.Ser1297Pro US rs1450793674 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020699 p.Met1411Thr US rs273900729 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020699 p.Met1411Thr US rs273900729 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_020700 p.Val1665Met LB/B rs80357169 - BRCA1 P38398 VAR_020701 p.Lys1690Gln US rs397507239 Some patients with sporadic breast cancer BRCA1 P38398 VAR_020702 p.Cys1697Arg LP/P rs80356993 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_020704 p.Leu1786Pro US rs398122697 Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_021913 p.Ile925Leu LB/B rs4986847 - BRCA1 P38398 VAR_035947 p.Leu30Phe US - A breast cancer sample BRCA1 P38398 VAR_035948 p.Leu758Phe US - A breast cancer sample BRCA1 P38398 VAR_035949 p.Gly778Cys US - A breast cancer sample BRCA1 P38398 VAR_052077 p.Ser153Arg LB/B rs28897674 - BRCA1 P38398 VAR_052078 p.Asn1236Lys US rs28897687 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_052079 p.Glu1250Lys LB/B rs28897686 - BRCA1 P38398 VAR_052080 p.Phe1662Cys LB/B rs28897695 - BRCA1 P38398 VAR_063212 p.Met1775Lys LP/P rs41293463 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063899 p.Met18Thr US rs80356929 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063900 p.Arg1495Met US rs80357389 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063901 p.Ala1623Gly LP/P rs80356862 Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_063902 p.Thr1685Ala US rs80356890 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063903 p.Thr1685Ile US - - BRCA1 P38398 VAR_063904 p.Met1689Arg US rs80357061 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063905 p.Gly1706Glu US rs80356860 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063906 p.Ser1715Arg US rs80357094 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063907 p.Gly1738Arg US rs80356937 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063908 p.Leu1764Pro US rs80357281 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063909 p.Ile1766Ser US rs80357463 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063910 p.Gly1788Val US rs80357069 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070458 p.Ser4Phe US rs786203152 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070459 p.Lys45Gln US rs769650474 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070460 p.Asp67Tyr US rs80357102 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070461 p.Tyr105Cys LB/B rs28897673 - BRCA1 P38398 VAR_070462 p.Asn132Lys US rs80357413 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070463 p.Pro142His US rs55971303 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070464 p.Leu147Phe US rs748876625 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070465 p.Leu165Pro US - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070466 p.Arg170Trp US rs80357325 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070467 p.Ser186Tyr US rs55688530 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070468 p.Val191Ile US rs80357090 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070469 p.Thr231Met US rs80357001 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070470 p.Asp245Val US rs80356865 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070471 p.Leu246Val US rs28897675 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070472 p.Val271Leu US rs80357244 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070473 p.Leu668Phe US rs80357250 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070474 p.Asp695Asn US rs28897681 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070475 p.Pro798Leu US rs876660005 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070476 p.Asn810Tyr US rs28897682 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070477 p.Arg841Gln US rs80357337 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070478 p.Arg866Cys LB/B rs41286300 - BRCA1 P38398 VAR_070479 p.Ser1101Asn US rs41293447 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070480 p.Ser1140Asn US - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070481 p.Glu1214Lys US rs80356923 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070482 p.Leu1267Ser US rs587782190 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070483 p.Glu1282Val US rs80357217 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070485 p.Ser1301Arg US rs273900719 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070486 p.Glu1346Lys US rs80357407 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070487 p.Val1378Ile US rs28897690 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070488 p.Met1400Val US rs80357306 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070489 p.Leu1407Pro US rs80357492 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070490 p.Ser1448Gly US rs80357486 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070491 p.Ser1486Cys US rs397507232 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070492 p.Val1534Met US rs55815649 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070493 p.Arg1589Pro US - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070494 p.Ser1651Phe US rs80356938 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070495 p.Ser1651Pro US rs879254042 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070496 p.Ser1655Phe US rs80357390 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070497 p.His1686Gln US rs397509218 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070498 p.His1686Arg US rs730882166 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070500 p.Thr1691Ile US rs80357034 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070501 p.Arg1699Gln US rs41293459 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070502 p.Gly1706Ala US rs80356860 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070503 p.Trp1718Cys US rs80357239 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070504 p.Thr1720Ala US rs56195342 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070505 p.Glu1735Lys US rs397509238 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070506 p.Val1736Ala US rs45553935 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070506 p.Val1736Ala US rs45553935 Fanconi anemia, complementation group S (FANCS) [MIM:617883] BRCA1 P38398 VAR_070507 p.Asp1739Gly US rs80357227 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070508 p.Asp1739Val US rs80357227 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070509 p.His1746Gln US rs786202389 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070510 p.Arg1753Thr US rs397509246 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070511 p.Cys1767Ser US rs1597804426 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070512 p.Gly1770Val US rs863224765 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070513 p.Trp1782Cys US - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070514 p.Ala1789Thr US rs80357078 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070515 p.Glu1794Asp US rs397509275 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070516 p.Val1804Asp US rs80356920 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070517 p.Pro1812Arg US - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070518 p.Trp1837Arg US rs80356959 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070519 p.His1862Leu US rs80357183 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_075666 p.Arg1699Trp LP/P rs55770810 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_075666 p.Arg1699Trp LP/P rs55770810 Fanconi anemia, complementation group S (FANCS) [MIM:617883] BRCA1 P38398 VAR_075666 p.Arg1699Trp LP/P rs55770810 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_079607 p.Leu1780Pro US rs80357474 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_079607 p.Leu1780Pro US rs80357474 Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_079607 p.Leu1780Pro US rs80357474 Ovarian cancer (OC) [MIM:167000] BRCA2 P51587 VAR_005085 p.Phe32Leu LP/P rs397508057 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005086 p.Lys53Arg LP/P rs397507595 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005087 p.Ala75Pro US rs28897701 Ovarian cancer BRCA2 P51587 VAR_005087 p.Ala75Pro US rs28897701 Renal cancer BRCA2 P51587 VAR_005088 p.Phe81Leu LP/P rs80358507 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005089 p.Pro201Arg LP/P rs397507822 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005090 p.Val211Ala LP/P - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005091 p.Pro222Ser LP/P rs397507873 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005092 p.Asn289His LB/B rs766173 - BRCA2 P51587 VAR_005093 p.Val355Leu US - Lung cancer BRCA2 P51587 VAR_005094 p.Asn372His LB/B rs144848 - BRCA2 P51587 VAR_005095 p.Cys554Trp US rs80358451 Pancreas cancer BRCA2 P51587 VAR_005095 p.Cys554Trp LP/P rs80358451 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005096 p.Thr630Ile US rs80358479 Ovarian cancer BRCA2 P51587 VAR_005097 p.Asp728Ala LP/P rs757577670 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005098 p.Asn991Asp LB/B rs1799944 - BRCA2 P51587 VAR_005099 p.Asn1147Ser LB/B rs1799951 - BRCA2 P51587 VAR_005101 p.Gly1529Arg US rs28897728 Bladder cancer BRCA2 P51587 VAR_005102 p.Asn1880Lys LB/B rs11571657 - BRCA2 P51587 VAR_005103 p.Thr1915Met LB/B rs4987117 - BRCA2 P51587 VAR_005104 p.Arg2034Cys LB/B rs1799954 - BRCA2 P51587 VAR_005105 p.Gly2274Val LP/P rs55712212 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005106 p.His2415Asn LP/P - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005107 p.Gln2421His LP/P - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005108 p.Asp3095Glu US rs80359198 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005109 p.Ile3103Met US rs80359204 Melanoma BRCA2 P51587 VAR_005110 p.Met3118Thr LP/P rs56204128 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005111 p.Thr3357Arg LP/P rs80358388 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005112 p.Ile3412Val LB/B rs1801426 - BRCA2 P51587 VAR_008766 p.Asn108His LB/B rs80358567 - BRCA2 P51587 VAR_008767 p.Lys327Glu US rs80359242 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_008768 p.Thr582Pro LB/B rs80358457 - BRCA2 P51587 VAR_008769 p.Asp707Tyr LB/B rs80358487 - BRCA2 P51587 VAR_008770 p.Met784Val LB/B rs11571653 - BRCA2 P51587 VAR_008771 p.Asn886Ile LB/B rs80358526 - BRCA2 P51587 VAR_008772 p.Asp935Asn US rs28897716 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_008774 p.Cys1290Tyr LB/B rs41293485 - BRCA2 P51587 VAR_008775 p.Thr1414Met LB/B rs70953664 - BRCA2 P51587 VAR_008776 p.Asp1420Tyr LB/B rs28897727 - BRCA2 P51587 VAR_008777 p.Asp1513Asn LB/B rs80358687 - BRCA2 P51587 VAR_008778 p.Glu1593Asp LB/B rs80358703 - BRCA2 P51587 VAR_008779 p.Gly1771Asp US rs80358755 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_008780 p.Asn1805Ser LB/B rs80358765 - BRCA2 P51587 VAR_008781 p.Asp1902Asn LB/B rs4987048 - BRCA2 P51587 VAR_008782 p.His2074Asn LB/B rs34309943 - BRCA2 P51587 VAR_008783 p.Glu2089Asp LP/P - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_008784 p.Val2138Phe LB/B rs11571659 - BRCA2 P51587 VAR_008785 p.Val2466Ala LP/P rs169547 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_008786 p.Leu2480Val LB/B rs80358965 - BRCA2 P51587 VAR_008787 p.Ile2490Thr LB/B rs11571707 - BRCA2 P51587 VAR_008788 p.Arg2502His US rs56070345 Ovarian cancer BRCA2 P51587 VAR_008789 p.Thr2515Ile US rs28897744 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_008790 p.Arg2787His US rs80359078 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_008791 p.Ile2944Phe LB/B rs4987047 - BRCA2 P51587 VAR_008792 p.Ala2951Thr US rs11571769 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_008793 p.Val2969Met LB/B rs59004709 - BRCA2 P51587 VAR_008794 p.Tyr3098His US rs41293521 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_008794 p.Tyr3098His US rs41293521 Ovarian cancer BRCA2 P51587 VAR_008795 p.Lys3257Arg LB/B rs55847618 - BRCA2 P51587 VAR_008796 p.Arg3276Ser LB/B rs80359245 - BRCA2 P51587 VAR_018661 p.Thr2722Arg LP/P rs80359062 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_018908 p.Lys322Gln LB/B rs11571640 - BRCA2 P51587 VAR_018909 p.Leu929Ser LB/B rs2227943 - BRCA2 P51587 VAR_018910 p.Ser976Phe LB/B rs11571656 - BRCA2 P51587 VAR_018911 p.Asn987Ile LB/B rs2227944 - BRCA2 P51587 VAR_018912 p.His1561Asn LB/B rs2219594 - BRCA2 P51587 VAR_018913 p.Lys2162Arg LB/B rs11571660 - BRCA2 P51587 VAR_018914 p.His2440Arg LB/B rs4986860 - BRCA2 P51587 VAR_018915 p.Ser2835Pro LB/B rs11571746 - BRCA2 P51587 VAR_018916 p.Glu2856Ala US rs11571747 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_018917 p.Val3244Ile LB/B rs11571831 - BRCA2 P51587 VAR_020705 p.Tyr42Cys US rs4987046 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020705 p.Tyr42Cys US rs4987046 Ovarian cancer BRCA2 P51587 VAR_020706 p.Asn60Ser US rs80358463 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020707 p.Gly405Arg US - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020708 p.Thr431Ile US rs876660828 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020709 p.Arg448His US rs80358423 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020710 p.Glu462Gly US rs56403624 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020711 p.Thr598Ala LB/B rs28897710 - BRCA2 P51587 VAR_020712 p.Leu613Arg US rs587780646 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020713 p.Glu1036Lys US - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020714 p.Ser1106Arg US rs1298550035 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020715 p.Ser1179Asn LP/P rs397507674 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020716 p.Asn1279Ser LB/B rs1060502384 - BRCA2 P51587 VAR_020717 p.Lys1445Thr US - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020718 p.Phe1524Val US rs56386506 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020719 p.Cys1580Tyr LP/P rs398122784 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020720 p.Thr1679Ile LP/P - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020721 p.Val1804Ala LP/P rs370252983 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020722 p.Glu1901Lys LP/P - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020723 p.Ile1929Val US rs79538375 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020724 p.Thr2031Ala US - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020725 p.Ser2072Cys LP/P rs80358862 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020726 p.Tyr2094Cys LP/P rs397507838 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020727 p.Pro2096Leu LP/P - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020728 p.Val2118Leu US - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020729 p.Lys2128Asn LP/P rs397507847 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020730 p.Glu2275Gly US - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020731 p.Phe2293Leu US rs80358912 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020732 p.Gly2353Arg US rs80358935 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020733 p.Arg2488Lys US rs80358968 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020734 p.Asn2706Ser LB/B rs80359055 - BRCA2 P51587 VAR_020735 p.Asp2723His US rs41293511 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020736 p.Val2728Ile LP/P rs28897749 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020737 p.Lys2729Asn US rs80359065 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020738 p.Gly2793Arg US rs80359082 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020739 p.Lys2950Asn US rs28897754 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020740 p.Thr3013Ile US rs28897755 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020741 p.Pro3063Ser US rs80359176 A patient with ovarian cancer BRCA2 P51587 VAR_020742 p.Gly3076Glu LP/P rs80359187 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020743 p.Asn3124Ile LP/P rs28897759 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020744 p.Lys3196Glu LP/P rs80359228 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020745 p.Thr3374Ile LB/B rs56309455 - BRCA2 P51587 VAR_028167 p.Gly25Arg LP/P rs80358961 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_028168 p.Trp31Cys LP/P rs80359214 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_028169 p.Trp31Arg LP/P rs80359182 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032712 p.Thr64Ile LP/P rs397507615 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032713 p.Arg118His US rs80358603 One patient with esophageal carcinoma BRCA2 P51587 VAR_032714 p.Met192Thr US rs80358805 One patient with pancreatic cancer BRCA2 P51587 VAR_032715 p.Thr225Ala LB/B rs80358897 - BRCA2 P51587 VAR_032716 p.Cys315Ser US rs79483201 One patient with esophageal carcinoma BRCA2 P51587 VAR_032717 p.Ser326Arg LP/P rs28897706 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032718 p.Ile505Thr LP/P rs28897708 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032719 p.Ile729Met LP/P rs397507620 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032720 p.Ser1172Leu US rs80358600 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032721 p.Leu1522Phe LB/B rs397507729 - BRCA2 P51587 VAR_032722 p.Lys1690Asn LP/P rs56087561 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032723 p.Asn1730Tyr LP/P rs397507770 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032724 p.Thr1887Met LP/P rs397507795 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032725 p.Val1988Ile US rs28897739 One patient with esophageal carcinoma BRCA2 P51587 VAR_032726 p.Gly2044Val LB/B rs56191579 - BRCA2 P51587 VAR_032727 p.Arg2108Cys LB/B rs55794205 - BRCA2 P51587 VAR_032728 p.Asn2135His LP/P rs80358876 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032729 p.Tyr2222Cys LP/P rs397507875 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032730 p.Arg2336His LP/P rs28897743 Fanconi anemia complementation group D1 (FANCD1) [MIM:605724] BRCA2 P51587 VAR_032731 p.Gln2456Glu LP/P rs397507912 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032732 p.Leu2510Pro LP/P rs80358979 Fanconi anemia complementation group D1 (FANCD1) [MIM:605724] BRCA2 P51587 VAR_032733 p.Trp2626Cys LP/P rs80359013 Fanconi anemia complementation group D1 (FANCD1) [MIM:605724] BRCA2 P51587 VAR_032734 p.Arg2842Cys US rs80359104 One patient with esophageal carcinoma BRCA2 P51587 VAR_032735 p.Pro3300Ser US rs770868371 One patient with esophageal carcinoma BRCA2 P51587 VAR_035436 p.Ser599Phe LB/B rs1046984 - BRCA2 P51587 VAR_056751 p.Lys513Arg LB/B rs28897709 - BRCA2 P51587 VAR_056752 p.Ile982Leu LB/B rs28897717 - BRCA2 P51587 VAR_056753 p.Val1542Met LB/B rs28897729 - BRCA2 P51587 VAR_056754 p.Val1643Ala LB/B rs28897731 - BRCA2 P51587 VAR_056755 p.Ser1979Arg LB/B rs28897737 - BRCA2 P51587 VAR_056756 p.Asp2238Glu LB/B rs28897742 - BRCA2 P51587 VAR_056757 p.Arg2336Gln LB/B rs28897743 - BRCA2 P51587 VAR_056758 p.Asn2447Asp LB/B rs4986859 - BRCA2 P51587 VAR_056759 p.Leu2686Pro LB/B rs28897746 - BRCA2 P51587 VAR_056760 p.Leu2792Pro US rs28897751 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_056761 p.Leu3101Arg LB/B rs28897758 - BRCA2 P51587 VAR_061563 p.His2116Arg LB/B rs55953736 - BRCA2 P51587 VAR_063911 p.Arg2502Cys US rs55716624 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_063912 p.Ile2627Phe US rs80359014 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_063913 p.Leu2653Pro US rs80359022 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_063914 p.Arg2659Lys US rs80359027 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_063915 p.Glu2663Val LP/P rs80359031 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_063916 p.Asp2723Gly LP/P rs41293513 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_063917 p.Gly2748Asp US rs80359071 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_063918 p.Arg3052Trp LP/P rs45580035 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_076440 p.Pro606Leu LB/B rs80358469 - BRCC3 P46736 VAR_050097 p.Ile74Val LB/B rs28997578 - BRD1 O95696 VAR_048424 p.Arg38Gly LB/B rs11549978 - BRD1 O95696 VAR_048425 p.Ala321Ser LB/B rs12157714 - BRD1 O95696 VAR_048426 p.Ala730Thr LB/B rs35331092 - BRD1 O95696 VAR_079184 p.Val230Leu LB/B - - BRD2 P25440 VAR_022132 p.Leu238Phe LB/B rs176250 - BRD2 P25440 VAR_029300 p.Ala474Val LB/B rs3918143 - BRD2 P25440 VAR_029301 p.Arg547Lys LB/B rs1049369 - BRD2 P25440 VAR_041904 p.Gly30Glu US - A glioblastoma multiforme sample BRD2 P25440 VAR_041905 p.Ala49Gly LB/B rs3918144 - BRD2 P25440 VAR_041906 p.Ala49Ser LB/B rs55669504 - BRD2 P25440 VAR_041907 p.Ala212Pro LB/B rs35952031 - BRD2 P25440 VAR_041908 p.Pro260Gln LB/B rs35294809 - BRD2 P25440 VAR_041909 p.Arg558Gly US - A gastric adenocarcinoma sample BRD2 P25440 VAR_041910 p.Ala569Thr LB/B rs34530779 - BRD2 P25440 VAR_041911 p.Ala599Pro LB/B rs55952113 - BRD2 P25440 VAR_041912 p.Pro714Leu US - A glioblastoma multiforme sample BRD3 Q15059 VAR_041913 p.Thr36Asn US - A renal clear cell carcinoma sample BRD3 Q15059 VAR_041914 p.Ala161Thr US - A gastric adenocarcinoma sample BRD3 Q15059 VAR_041915 p.Ala172Val LB/B rs34609592 - BRD3 Q15059 VAR_041916 p.Lys435Gln LB/B rs36093130 - BRD3 Q15059 VAR_041917 p.Arg441His LB/B rs56017928 - BRD3 Q15059 VAR_041918 p.Ser447Pro LB/B rs55754444 - BRD4 O60885 VAR_041919 p.Pro37Ser LB/B rs35177876 - BRD4 O60885 VAR_041920 p.Ala371Gly LB/B rs55805532 - BRD4 O60885 VAR_041921 p.Ser563Asn LB/B rs55970906 - BRD4 O60885 VAR_041922 p.Thr598Ser LB/B rs34362023 - BRD4 O60885 VAR_041923 p.Arg669His LB/B rs35824241 - BRD4 O60885 VAR_048427 p.Arg1097His LB/B rs35676845 - BRD8 Q9H0E9 VAR_030695 p.Thr490Met LB/B rs11750814 - BRD8 Q9H0E9 VAR_048428 p.Leu896Pro LB/B rs6883021 - BRD8 Q9H0E9 VAR_048429 p.Gln1198Arg LB/B rs412051 - BRD9 Q9H8M2 VAR_033635 p.Ala266Thr LB/B rs34292369 - BRD9 Q9H8M2 VAR_033636 p.Ala389Thr LB/B rs779060319 - BRD9 Q9H8M2 VAR_059143 p.Ala170Thr LB/B rs34292369 - BRDT Q58F21 VAR_026584 p.Gln62Lys LB/B rs10783071 - BRDT Q58F21 VAR_026585 p.Lys238Asn LB/B rs1156281 - BRDT Q58F21 VAR_026586 p.Asn410Lys LB/B rs3088232 - BRDT Q58F21 VAR_041924 p.Ser2Phe LB/B rs55806733 - BRDT Q58F21 VAR_041925 p.Arg6Gln LB/B rs56273490 - BRDT Q58F21 VAR_041926 p.Ala89Val US rs781375003 A gastric adenocarcinoma sample BRDT Q58F21 VAR_041927 p.His288Tyr US - A lung neuroendocrine carcinoma sample BRDT Q58F21 VAR_041928 p.Glu357Lys LB/B rs34674879 - BRDT Q58F21 VAR_041929 p.Pro542Ala LB/B rs55912588 - BRDT Q58F21 VAR_047327 p.Lys336Thr LB/B rs1064567 - BRDT Q58F21 VAR_047328 p.Arg605Gln LB/B rs35327986 - BRDT Q58F21 VAR_047329 p.Pro696Leu LB/B rs10747493 - BRDT Q58F21 VAR_079306 p.Gly928Asp US rs754258809 Spermatogenic failure 21 (SPGF21) [MIM:617644] BRF1 Q92994 VAR_035723 p.Val542Met US rs371981699 A colorectal cancer sample BRF1 Q92994 VAR_072710 p.Arg223Trp LP/P rs370270828 Cerebellofaciodental syndrome (CFDS) [MIM:616202] BRF1 Q92994 VAR_072711 p.Ser226Leu LP/P rs606231416 Cerebellofaciodental syndrome (CFDS) [MIM:616202] BRF1 Q92994 VAR_072712 p.Thr259Met LP/P rs373957300 Cerebellofaciodental syndrome (CFDS) [MIM:616202] BRF1 Q92994 VAR_072713 p.Pro292His LP/P rs606231450 Cerebellofaciodental syndrome (CFDS) [MIM:616202] BRI3 O95415 VAR_033516 p.Thr123Ala LB/B rs12865 - BRICD5 Q6PL45 VAR_031629 p.Val46Ile LB/B rs26857 - BRICD5 Q6PL45 VAR_061620 p.Ser31Gly LB/B rs26856 - BRICD5 Q6PL45 VAR_061621 p.His122Tyr LB/B rs58292351 - BRINP1 O60477 VAR_024930 p.Ala437Thr LB/B rs1043377 - BRINP1 O60477 VAR_029989 p.Ser347Arg LB/B - - BRINP1 O60477 VAR_029990 p.Arg358His LB/B rs17476783 - BRINP1 O60477 VAR_036336 p.Pro712Thr US - A colorectal cancer sample BRINP2 Q9C0B6 VAR_049022 p.Tyr71Cys LB/B rs16850984 - BRINP2 Q9C0B6 VAR_049023 p.Leu390Val LB/B rs3176443 - BRIP1 Q9BX63 VAR_020896 p.Pro47Ala LP/P rs28903098 Breast cancer (BC) [MIM:114480] BRIP1 Q9BX63 VAR_020897 p.Arg173Cys LB/B rs4988345 - BRIP1 Q9BX63 VAR_020898 p.Val193Ile LB/B rs4988346 - BRIP1 Q9BX63 VAR_020899 p.Leu195Pro LB/B rs4988347 - BRIP1 Q9BX63 VAR_020900 p.Met299Ile LP/P rs137852985 Breast cancer (BC) [MIM:114480] BRIP1 Q9BX63 VAR_020901 p.Arg419Trp LB/B rs150624408 - BRIP1 Q9BX63 VAR_020902 p.Phe531Val LB/B rs4988350 - BRIP1 Q9BX63 VAR_020903 p.Gln540Leu LB/B rs4988349 - BRIP1 Q9BX63 VAR_020904 p.Cys832Tyr LB/B rs4988355 - BRIP1 Q9BX63 VAR_020905 p.Ser919Pro LB/B rs4986764 - BRIP1 Q9BX63 VAR_020906 p.Val935Gly LB/B rs4988356 - BRIP1 Q9BX63 VAR_020907 p.Pro1034Leu US rs1199923024 A patient with ovarian cancer BRIP1 Q9BX63 VAR_023700 p.Gln255His LP/P - Fanconi anemia complementation group J (FANCJ) [MIM:609054] BRIP1 Q9BX63 VAR_023701 p.Arg264Trp LB/B rs28997569 - BRIP1 Q9BX63 VAR_023702 p.Ala349Pro LP/P rs149364097 Fanconi anemia complementation group J (FANCJ) [MIM:609054] BRIP1 Q9BX63 VAR_023703 p.Trp647Cys LP/P rs786202760 Fanconi anemia complementation group J (FANCJ) [MIM:609054] BRIP1 Q9BX63 VAR_023704 p.Arg707Cys LP/P rs764803896 Fanconi anemia complementation group J (FANCJ) [MIM:609054] BRIP1 Q9BX63 VAR_052192 p.Ile633Met LB/B rs28997572 - BRIP1 Q9BX63 VAR_052193 p.Asp1148Glu LB/B rs28997573 - BRME1 Q0VDD7 VAR_033356 p.Gly267Arg LB/B rs2305775 - BRME1 Q0VDD7 VAR_033357 p.Gln500Arg LB/B rs3803892 - BRPF1 P55201 VAR_028232 p.Gly1117Glu LB/B rs1042294 - BRPF1 P55201 VAR_048430 p.His1193Gln LB/B rs36081837 - BRPF1 P55201 VAR_078077 p.Pro370Ser LP/P rs1057519509 Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) [MIM:617333] BRPF1 P55201 VAR_078078 p.Cys389Arg LP/P rs1057519515 Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) [MIM:617333] BRPF3 Q9ULD4 VAR_048431 p.Ala278Gly LB/B rs17658935 - BRPF3 Q9ULD4 VAR_061042 p.Ser177Gly LB/B rs45504893 - BRS3 P32247 VAR_011844 p.Thr53Pro LB/B rs5232 - BRS3 P32247 VAR_011845 p.Leu162Gln LB/B rs5234 - BRSK1 Q8TDC3 VAR_040394 p.Arg303Trp US rs144130246 A gastric adenocarcinoma sample BRSK1 Q8TDC3 VAR_040395 p.Val319Ile US - A lung large cell carcinoma sample BRSK1 Q8TDC3 VAR_040396 p.Gly391Glu US - A metastatic melanoma sample BRSK1 Q8TDC3 VAR_040397 p.Thr531Asn LB/B rs55892637 - BRSK1 Q8TDC3 VAR_040398 p.Gly749Ser LB/B rs12978445 - BRSK1 Q8TDC3 VAR_040399 p.Pro764Ala LB/B rs55796422 - BRWD1 Q9NSI6 VAR_026435 p.Gln83Glu LB/B rs2056844 - BRWD1 Q9NSI6 VAR_026436 p.Ser1511Pro LB/B rs2183573 - BRWD1 Q9NSI6 VAR_026437 p.Leu1699Pro LB/B rs1041439 - BRWD1 Q9NSI6 VAR_057584 p.Lys2156Arg LB/B rs2234548 - BRWD1 Q9NSI6 VAR_088721 p.Gly56Ser US - Ciliary dyskinesia, primary, 51 (CILD51) [MIM:620438] BRWD1 Q9NSI6 VAR_088722 p.His175Tyr US - Ciliary dyskinesia, primary, 51 (CILD51) [MIM:620438] BRWD1 Q9NSI6 VAR_088723 p.Leu339Ser US - Ciliary dyskinesia, primary, 51 (CILD51) [MIM:620438] BRWD1 Q9NSI6 VAR_088724 p.Gln1858Leu US - Ciliary dyskinesia, primary, 51 (CILD51) [MIM:620438] BRWD3 Q6RI45 VAR_031491 p.Lys1288Arg LB/B rs3122407 - BRWD3 Q6RI45 VAR_036940 p.Lys1596Glu US rs137853272 Intellectual developmental disorder, X-linked 93 (XLID93) [MIM:300659] BSCL2 Q96G97 VAR_022375 p.Asn88Ser LP/P rs137852972 Neuronopathy, distal hereditary motor, autosomal dominant 13 (HMND13) [MIM:619112] BSCL2 Q96G97 VAR_022375 p.Asn88Ser LP/P rs137852972 Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685] BSCL2 Q96G97 VAR_022376 p.Ser90Leu LP/P rs137852973 Neuronopathy, distal hereditary motor, autosomal dominant 13 (HMND13) [MIM:619112] BSCL2 Q96G97 VAR_022376 p.Ser90Leu LP/P rs137852973 Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685] BSCL2 Q96G97 VAR_022377 p.Ala212Pro LP/P rs137852971 Congenital generalized lipodystrophy 2 (CGL2) [MIM:269700] BSG P35613 VAR_011720 p.Gly269Val LB/B rs1803203 - BSG P35613 VAR_013574 p.Glu208Lys LB/B rs104894669 - BSG P35613 VAR_082637 p.Lys152Asn LB/B rs14704 - BSG P35613 VAR_082638 p.Val176Leu LB/B rs2229662 - BSG P35613 VAR_082639 p.Leu206Pro LB/B rs55911144 - BSG P35613 VAR_084546 p.Leu13Val LB/B rs201850688 - BSG P35613 VAR_084547 p.Thr16Ala LB/B rs11551906 - BSG P35613 VAR_084548 p.Val26Phe LB/B rs144824657 - BSN Q9UPA5 VAR_055105 p.Ala741Thr LB/B rs34762726 - BSN Q9UPA5 VAR_055106 p.Gly1213Asp LB/B rs35762866 - BSN Q9UPA5 VAR_055107 p.Ala3863Thr LB/B rs2005557 - BSND Q8WZ55 VAR_019783 p.Arg8Leu LP/P rs74315288 Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A) [MIM:602522] BSND Q8WZ55 VAR_019784 p.Arg8Trp LP/P rs74315285 Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A) [MIM:602522] BSND Q8WZ55 VAR_019785 p.Gly10Ser LP/P rs74315287 Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A) [MIM:602522] BSND Q8WZ55 VAR_019786 p.Gly47Arg LP/P rs74315289 Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A) [MIM:602522] BSND Q8WZ55 VAR_061564 p.Val43Ile LB/B rs34561376 - BSPRY Q5W0U4 VAR_026882 p.Gln293His LB/B rs818711 - BSPRY Q5W0U4 VAR_026883 p.Thr374Ile LB/B rs3088235 - BSPRY Q5W0U4 VAR_048397 p.Ala261Pro LB/B rs34089316 - BST1 Q10588 VAR_021964 p.Arg125His LB/B rs2302465 - BST1 Q10588 VAR_021965 p.Arg145Gln LB/B rs2302464 - BST1 Q10588 VAR_028438 p.Ala77Val LB/B rs2302466 - BST1 Q10588 VAR_028439 p.Ile101Val LB/B rs6840615 - BST2 Q10589 VAR_012067 p.Val143Phe LB/B rs1804402 - BTBD10 Q9BSF8 VAR_033638 p.Thr145Ala LB/B rs34185489 - BTBD16 Q32M84 VAR_027070 p.Arg318Gln LB/B rs2421013 - BTBD16 Q32M84 VAR_027071 p.Gly331Asp LB/B rs986178 - BTBD16 Q32M84 VAR_027072 p.His439Pro LB/B rs1048347 - BTBD16 Q32M84 VAR_027073 p.Gln472Arg LB/B rs10510108 - BTBD18 B2RXH4 VAR_063155 p.Ser302Thr LB/B rs78162678 - BTBD18 B2RXH4 VAR_063156 p.Glu352Gly LB/B rs201912857 - BTBD8 Q5XKL5 VAR_033637 p.Lys136Arg LB/B rs17131602 - BTBD8 Q5XKL5 VAR_048436 p.Val60Ile LB/B rs34856868 - BTBD8 Q5XKL5 VAR_060300 p.His805Arg LB/B rs2128647 - BTBD8 Q5XKL5 VAR_060301 p.Ser825Ile LB/B rs12084085 - BTBD8 Q5XKL5 VAR_060302 p.Val905Leu LB/B rs7552286 - BTBD8 Q5XKL5 VAR_060303 p.Gln985Arg LB/B rs11166332 - BTBD8 Q5XKL5 VAR_060304 p.Asp1064Gly LB/B rs7523466 - BTBD8 Q5XKL5 VAR_060305 p.Asn1098Tyr LB/B rs7523552 - BTBD8 Q5XKL5 VAR_060306 p.Lys1209Glu LB/B rs3738439 - BTBD8 Q5XKL5 VAR_060307 p.Asn1328Ser LB/B rs560389 - BTBD8 Q5XKL5 VAR_060308 p.Thr1431Asn LB/B rs565156 - BTBD8 Q5XKL5 VAR_060309 p.Phe1466Val LB/B rs17578364 - BTBD8 Q5XKL5 VAR_060310 p.Val1541Ile LB/B rs566576 - BTC P35070 VAR_029307 p.Cys7Gly LB/B rs28549760 - BTC P35070 VAR_029308 p.Leu124Met LB/B rs11938093 - BTC P35070 VAR_061151 p.Leu44Phe LB/B rs56320257 - BTD P43251 VAR_005113 p.Phe128Val LP/P rs397514355 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005114 p.Ala171Thr LP/P rs13073139 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005115 p.Asp228Tyr LP/P rs397514380 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005116 p.His323Arg LP/P rs397507176 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005117 p.Asp444His LP/P rs13078881 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005118 p.Gly451Asp LP/P rs397514419 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005119 p.Gln456His LP/P rs80338685 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005120 p.Thr532Met LP/P rs104893688 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005121 p.Arg538Cys LP/P rs80338686 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_056238 p.Pro391Ser LB/B rs35034250 - BTG1 P62324 VAR_021345 p.Asn139Ser LB/B rs28399541 - BTG1 P62324 VAR_021346 p.Gln141Glu LB/B rs28399542 - BTG2 P78543 VAR_048437 p.Val153Met LB/B rs12039961 - BTG4 Q9NY30 VAR_084760 p.Ala56Thr LP/P rs1865879702 Oocyte/zygote/embryo maturation arrest 8 (OZEMA8) [MIM:619009] BTK Q06187 VAR_006216 p.Leu11Pro LP/P rs1603020228 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006217 p.Lys12Arg LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006218 p.Ser14Phe LP/P rs1057520682 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006219 p.Phe25Ser LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006220 p.Arg28His LP/P rs128620185 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006221 p.Arg28Pro LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006222 p.Thr33Pro LP/P rs128620189 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006223 p.Val64Phe LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006225 p.Val113Asp LP/P rs128621190 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006227 p.Arg288Trp LP/P rs128621194 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006228 p.Leu295Pro LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006230 p.Gly302Glu LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006231 p.Arg307Gly LP/P rs128621195 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006232 p.Tyr334Ser LP/P rs128621196 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006233 p.Leu358Phe LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006234 p.Tyr361Cys LP/P rs28935478 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006235 p.His362Gln LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006236 p.His364Pro LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006237 p.Asn365Tyr LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006238 p.Ile370Met LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006239 p.Leu408Pro LP/P rs128621198 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006240 p.Tyr418His LP/P rs144079566 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006241 p.Ile429Asn LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006242 p.Lys430Glu LP/P rs128620184 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006243 p.Tyr476Asp LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006244 p.Met477Arg LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006245 p.Cys502Phe LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006246 p.Cys502Trp LP/P rs41310709 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006247 p.Cys506Arg LP/P rs128621200 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006248 p.Cys506Tyr LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006249 p.Met509Val LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006251 p.Arg520Gln LP/P rs128621202 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006252 p.Asp521His LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006253 p.Asp521Asn LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006254 p.Arg525Pro LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006255 p.Arg525Gln LP/P rs128620183 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006256 p.Asn526Lys LP/P rs1569291237 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006257 p.Leu542Pro LP/P rs128621203 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006258 p.Arg544Lys LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006259 p.Arg562Pro LP/P rs104894770 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006260 p.Arg562Trp LP/P rs128621204 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006261 p.Glu567Lys LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006262 p.Trp581Arg LP/P rs128621205 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006263 p.Ala582Val LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006264 p.Met587Leu LP/P rs1603001822 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006265 p.Glu589Gly LP/P rs128621206 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006267 p.Ser592Pro LP/P rs1603001783 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006268 p.Gly594Glu LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006269 p.Gly594Arg LP/P rs1555977339 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006270 p.Tyr598Cys LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006271 p.Ala607Asp LP/P rs128621208 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006272 p.Gly613Asp LP/P rs128621209 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006273 p.Pro619Ser LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006274 p.Met630Ile LB/B - - BTK Q06187 VAR_006275 p.Met630Lys LP/P rs128621210 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006276 p.Cys633Tyr LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006277 p.Arg641Cys LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006278 p.Arg641His LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006279 p.Phe644Ser LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006280 p.Leu647Pro LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006281 p.Leu652Pro LP/P rs128622212 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008291 p.Lys19Glu LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008292 p.Lys27Arg LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008293 p.Arg28Cys LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008294 p.Tyr40Cys LP/P rs1555980875 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008295 p.Tyr40Asn LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008296 p.Ile61Asn LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008297 p.Val64Asp LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008298 p.Ser115Phe LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008299 p.Thr117Pro LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008300 p.Gln127His LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008301 p.Cys154Ser LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008302 p.Cys155Gly LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008303 p.Cys155Arg LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008304 p.Thr184Pro LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008305 p.Arg288Gln LP/P rs1555978277 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008306 p.Gly302Arg LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008307 p.Arg307Thr LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008308 p.Asp308Glu LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008309 p.Val319Ala LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008310 p.Ser366Phe LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008311 p.Leu369Phe LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008312 p.Arg372Gly LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008313 p.Gly414Arg LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008314 p.Lys430Arg LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008315 p.Glu445Asp LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008316 p.Gly462Asp LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008317 p.Gly462Val LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008318 p.Ala508Asp LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008319 p.Met509Ile LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008320 p.Leu518Arg LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008321 p.Asp521Gly LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008322 p.Ala523Glu LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008323 p.Arg525Gly LP/P rs886041149 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008324 p.Val535Phe LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008325 p.Phe559Ser LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008326 p.Trp563Leu LP/P rs1555977474 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008327 p.Phe583Ser LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008328 p.Glu589Asp LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008330 p.Pro619Ala LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008331 p.Pro619Thr LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008332 p.Ala622Pro LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008333 p.Val626Gly LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008334 p.Met630Thr LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008335 p.Phe644Leu LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008960 p.Tyr39Ser LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008961 p.Leu512Pro LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008962 p.Leu512Gln LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008963 p.Arg544Gly LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008964 p.Ser578Tyr LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008965 p.Glu589Lys LP/P - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_041676 p.Arg82Lys LB/B rs56035945 - BTK Q06187 VAR_041677 p.Pro190Lys US - A lung large cell carcinoma sample BTK Q06187 VAR_074309 p.Cys481Ser US rs1057519825 - BTLA Q7Z6A9 VAR_027607 p.Arg157Ser LB/B rs2931761 - BTLA Q7Z6A9 VAR_027608 p.Pro267Leu LB/B rs9288952 - BTLA Q7Z6A9 VAR_056027 p.Ile124Val LB/B rs16859633 - BTN1A1 Q13410 VAR_021169 p.Ala213Thr LB/B rs3736781 - BTN1A1 Q13410 VAR_026546 p.Asp503Glu LB/B rs9393728 - BTN1A1 Q13410 VAR_030770 p.Val303Ala LB/B rs1980600 - BTN1A1 Q13410 VAR_061302 p.Pro521Ser LB/B rs35555795 - BTN2A1 Q7KYR7 VAR_049825 p.Arg124Cys LB/B rs3734539 - BTN2A1 Q7KYR7 VAR_049826 p.Val207Met LB/B rs13195509 - BTN2A1 Q7KYR7 VAR_049827 p.Arg378Gln LB/B rs3734542 - BTN2A1 Q7KYR7 VAR_049828 p.Gly451Ala LB/B rs3734543 - BTN2A1 Q7KYR7 VAR_061303 p.Trp178Cys LB/B rs13195402 - BTN2A1 Q7KYR7 VAR_061304 p.Trp178Leu LB/B rs13195401 - BTN2A2 Q8WVV5 VAR_049829 p.Pro479Ser LB/B rs16891646 - BTN2A3P Q96KV6 VAR_049830 p.Gly79Asp LB/B rs7745238 - BTN2A3P Q96KV6 VAR_049831 p.Val148Ile LB/B rs10946829 - BTN2A3P Q96KV6 VAR_049832 p.Asn300Ser LB/B rs2893848 - BTN3A1 O00481 VAR_021170 p.Ser224Asn LB/B rs1057933 - BTN3A1 O00481 VAR_028788 p.Pro456Thr LB/B rs4712990 - BTN3A1 O00481 VAR_061305 p.Arg15His LB/B rs56161420 - BTN3A1 O00481 VAR_061306 p.Arg282Thr LB/B rs41266839 - BTN3A2 P78410 VAR_026211 p.Asn181Asp LB/B rs9358936 - BTN3A2 P78410 VAR_049833 p.Arg167Thr LB/B rs9379861 - BTN3A2 P78410 VAR_049834 p.Ala182Thr LB/B rs12205731 - BTN3A2 P78410 VAR_049835 p.Arg211Lys LB/B rs35183513 - BTN3A2 P78410 VAR_049836 p.Ser307Asn LB/B rs13216828 - BTNL2 Q9UIR0 VAR_021171 p.Lys196Glu LB/B rs2076523 - BTNL2 Q9UIR0 VAR_029128 p.Ser334Leu LB/B rs28362679 - BTNL2 Q9UIR0 VAR_033602 p.Trp94Arg LB/B rs28362682 - BTNL2 Q9UIR0 VAR_033603 p.Asp283Val LB/B rs34423804 - BTNL2 Q9UIR0 VAR_033604 p.Ala352Thr LB/B rs35037492 - BTNL2 Q9UIR0 VAR_033605 p.Pro379Leu LB/B rs28362678 - BTNL2 Q9UIR0 VAR_033606 p.Met380Ile LB/B rs28362677 - BTNL2 Q9UIR0 VAR_033607 p.Pro393Gln LB/B rs41521946 - BTNL2 Q9UIR0 VAR_049837 p.Val188Met LB/B rs9461742 - BTNL2 Q9UIR0 VAR_049838 p.Ser360Gly LB/B rs2076530 - BTNL2 Q9UIR0 VAR_061307 p.Arg181Gln LB/B rs28362681 - BTNL2 Q9UIR0 VAR_061308 p.Ala202Val LB/B rs28362680 - BTNL8 Q6UX41 VAR_049839 p.Thr143Ala LB/B rs2276995 - BTNL8 Q6UX41 VAR_049840 p.Glu229Lys LB/B rs7724813 - BTNL8 Q6UX41 VAR_069135 p.His311Gln LB/B rs146303629 - BTNL8 Q6UX41 VAR_069136 p.Thr326Lys LB/B rs7703365 - BTNL8 Q6UX41 VAR_069137 p.Ala477Thr LB/B rs113820381 - BTNL9 Q6UXG8 VAR_049841 p.Gly511Arg LB/B rs10068763 - BTRC Q9Y297 VAR_020119 p.Pro592His LB/B rs2270439 - BTRC Q9Y297 VAR_022027 p.Ala543Ser LB/B rs4151060 - BUB1 O43683 VAR_008849 p.Glu36Asp US rs1801328 Colorectal cancer BUB1 O43683 VAR_008850 p.Ser492Tyr US rs121909055 Colorectal cancer BUB1 O43683 VAR_008851 p.Pro648Arg US rs376649190 Colorectal cancer BUB1 O43683 VAR_015687 p.Tyr259Cys US - Pancreatic cancer BUB1 O43683 VAR_015688 p.His265Asn US - Pancreatic cancer BUB1 O43683 VAR_040400 p.Gly20Asp LB/B rs35890336 - BUB1 O43683 VAR_040401 p.Asn534Asp LB/B rs36109304 - BUB1B O60566 VAR_008852 p.Met15Thr US rs1392369693 A colorectal cancer cell line BUB1B O60566 VAR_008853 p.Arg349Gln LB/B rs1801376 - BUB1B O60566 VAR_008854 p.Val618Ala LB/B rs1801528 - BUB1B O60566 VAR_028921 p.Arg36Gln LP/P rs534297115 Premature chromatid separation trait (PCS) [MIM:176430] BUB1B O60566 VAR_028922 p.Glu390Asp LB/B rs1017842 - BUB1B O60566 VAR_028923 p.Arg550Gln LP/P rs28989187 Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_028924 p.Arg814His LP/P rs28989182 Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_028925 p.Leu844Phe LP/P rs28989181 Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_028926 p.Ile909Thr LP/P rs28989184 Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_028927 p.Gln921His LP/P rs28989183 Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_028928 p.Leu1012Pro LP/P rs28989185 Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_040402 p.Thr40Met LB/B rs56079734 - BUB1B O60566 VAR_054549 p.Pro378Ser LB/B rs17851677 - BUD13 Q9BRD0 VAR_032343 p.Arg120Cys LB/B rs10488698 - BUD13 Q9BRD0 VAR_032344 p.Pro148Leu LB/B rs11820589 - BUD13 Q9BRD0 VAR_032345 p.Arg242Ile LB/B rs11216131 - BUD13 Q9BRD0 VAR_053908 p.Ser388Cys LB/B rs35004487 - BVES Q8NE79 VAR_017155 p.Arg129Trp LB/B rs2275289 - BVES Q8NE79 VAR_053600 p.Met127Ile LB/B rs9486039 - BVES Q8NE79 VAR_075625 p.Ser201Phe LP/P rs869025337 Muscular dystrophy, limb-girdle, autosomal recessive 25 (LGMDR25) [MIM:616812] BYSL Q13895 VAR_033641 p.Glu103Lys LB/B rs2296916 - BYSL Q13895 VAR_048439 p.Pro426Ser LB/B rs3828855 - BZW2 Q9Y6E2 VAR_033642 p.Asp44Ala LB/B rs35233079 - C10orf120 Q5SQS8 VAR_050859 p.Thr20Lys LB/B rs41448048 - C10orf120 Q5SQS8 VAR_050860 p.Ala269Thr LB/B rs2947594 - C10orf62 Q5T681 VAR_030216 p.Glu121Asp LB/B rs7093840 - C10orf90 Q96M02 VAR_030908 p.Arg134His LB/B rs11245008 - C10orf90 Q96M02 VAR_030909 p.Asp262Asn LB/B rs11245007 - C10orf90 Q96M02 VAR_050855 p.Met57Ile LB/B rs11558415 - C10orf90 Q96M02 VAR_050856 p.Asp531Glu LB/B rs12412320 - C11orf16 Q9NQ32 VAR_056827 p.Pro144Leu LB/B rs2568076 - C11orf16 Q9NQ32 VAR_056828 p.Val210Leu LB/B rs11042127 - C11orf24 Q96F05 VAR_027713 p.Gly97Val LB/B rs3802746 - C11orf24 Q96F05 VAR_027714 p.Ala150Thr LB/B rs901827 - C11orf40 Q8WZ69 VAR_029581 p.Phe100Ser LB/B rs12795289 - C11orf42 Q8N5U0 VAR_026831 p.Pro242Ser LB/B rs10769671 - C11orf52 Q96A22 VAR_029587 p.Thr23Arg LB/B rs7124407 - C11orf68 Q9H3H3 VAR_060319 p.Gln195Arg LB/B rs7947504 - C11orf96 Q7Z7L8 VAR_039242 p.Thr26Ala LB/B rs1973717 - C11orf96 Q7Z7L8 VAR_039243 p.Ser47Pro LB/B rs12797684 - C11orf96 Q7Z7L8 VAR_039244 p.Arg110Ser LB/B rs12796438 - C11orf96 Q7Z7L8 VAR_039245 p.Arg144Cys LB/B rs12796667 - C11orf96 Q7Z7L8 VAR_039246 p.Phe151Ser LB/B rs12798337 - C11orf96 Q7Z7L8 VAR_039247 p.Pro352Ser LB/B rs2434483 - C12orf4 Q9NQ89 VAR_081778 p.Leu328Pro LP/P rs1468772495 Intellectual developmental disorder, autosomal recessive 66 (MRT66) [MIM:618221] C12orf42 Q96LP6 VAR_030229 p.Glu11Asp LB/B rs10778257 - C12orf42 Q96LP6 VAR_030230 p.Pro182Arg LB/B rs7484376 - C12orf50 Q8NA57 VAR_033266 p.Gln306Arg LB/B rs10777084 - C12orf50 Q8NA57 VAR_033267 p.Arg322His LB/B rs11104703 - C12orf54 Q6X4T0 VAR_030252 p.Pro86Ser LB/B rs11458 - C12orf57 Q99622 VAR_069774 p.Leu51Gln LP/P rs587776955 Temtamy syndrome (TEMTYS) [MIM:218340] C12orf60 Q5U649 VAR_030226 p.Lys51Arg LB/B rs17853860 - C12orf60 Q5U649 VAR_030227 p.Lys65Arg LB/B rs7304054 - C12orf60 Q5U649 VAR_030228 p.Asn103Lys LB/B rs7307438 - C12orf71 A8MTZ7 VAR_056837 p.Ile140Val LB/B rs708167 - C12orf76 Q8N812 VAR_039916 p.Ala26Thr US - A colorectal cancer sample C14orf119 Q9NWQ9 VAR_033744 p.Leu16Val LB/B rs35065609 - C14orf178 Q8N769 VAR_030248 p.His26Tyr LB/B rs8015313 - C14orf93 Q9H972 VAR_050875 p.Ala190Val LB/B rs3829409 - C15orf32 Q32M92 VAR_050884 p.Ala17Thr LB/B rs1455773 - C15orf39 Q6ZRI6 VAR_026891 p.Ala119Pro LB/B rs1873379 - C15orf39 Q6ZRI6 VAR_026892 p.Gly491Asp LB/B rs11072532 - C15orf39 Q6ZRI6 VAR_026893 p.Ser536Ala LB/B rs28509789 - C15orf39 Q6ZRI6 VAR_026894 p.Gly945Asp LB/B rs3743211 - C15orf40 Q8WUR7 VAR_069397 p.Ala89Thr LB/B rs376937425 - C16orf46 Q6P387 VAR_030893 p.Thr77Ser LB/B rs17855893 - C16orf46 Q6P387 VAR_030894 p.Ile288Thr LB/B rs7198494 - C16orf46 Q6P387 VAR_030895 p.Tyr335His LB/B rs10459872 - C16orf46 Q6P387 VAR_030896 p.Lys357Glu LB/B rs9930623 - C16orf46 Q6P387 VAR_030897 p.Pro388Ser LB/B rs12929250 - C16orf78 Q8WTQ4 VAR_034632 p.Arg152Gln LB/B rs16947350 - C16orf89 Q6UX73 VAR_040004 p.Leu296Ser LB/B rs1127920 - C16orf89 Q6UX73 VAR_040005 p.Tyr363His LB/B rs11642955 - C16orf89 Q6UX73 VAR_057992 p.Gly215Ala LB/B rs17853191 - C17orf50 Q8WW18 VAR_050899 p.Asp22Glu LB/B rs4795087 - C17orf58 Q2M2W7 VAR_030902 p.Ile334Val LB/B rs9891146 - C17orf78 Q8N4C9 VAR_034877 p.Thr152Ser LB/B rs1714987 - C17orf99 Q6UX52 VAR_067466 p.Trp101Arg LB/B rs4071641 - C18orf21 Q32NC0 VAR_030903 p.Thr132Ala LB/B rs2276314 - C18orf32 Q8TCD1 VAR_039374 p.Pro37His LB/B rs11537626 - C19orf12 Q9NSK7 VAR_066617 p.Thr11Met LP/P rs397514477 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_066618 p.Gly53Arg LP/P rs200133991 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_066619 p.Gly65Glu LP/P rs752450983 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_066620 p.Gly69Arg LP/P rs515726205 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_066621 p.Lys142Glu US rs146170087 - C19orf12 Q9NSK7 VAR_066622 p.Lys142Thr LB/B rs79915936 - C19orf12 Q9NSK7 VAR_069756 p.Ser39Phe LP/P rs1204865094 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_069757 p.Ala48Pro LP/P - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_069758 p.Pro60Leu LP/P rs1424999393 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_069759 p.Gly65Val LP/P rs752450983 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_069760 p.Pro83Leu LP/P rs201987973 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_069761 p.Arg98Ser LP/P rs1384930997 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_069762 p.Leu121Gln LP/P - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_069763 p.Ala134Pro US rs1264612218 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_069764 p.Gln149Arg LB/B rs73023451 - C19orf12 Q9NSK7 VAR_070668 p.Ala63Pro LP/P rs376103979 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_070668 p.Ala63Pro LP/P rs376103979 Spastic paraplegia 43, autosomal recessive (SPG43) [MIM:615043] C19orf12 Q9NSK7 VAR_076803 p.Gly58Ser LP/P rs1358503478 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_076804 p.Gln96Pro LP/P - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf18 Q8NEA5 VAR_050909 p.His208Tyr LB/B rs8110831 - C19orf53 Q9UNZ5 VAR_053783 p.Lys39Arg LB/B rs10104 - C19orf73 Q9NVV2 VAR_046164 p.Ser106Gly LB/B rs2232003 - C1D Q13901 VAR_053990 p.Ser127Pro LB/B rs10444 - C1GALT1C1 Q96EU7 VAR_031910 p.Asp131Glu LB/B rs17261572 - C1GALT1C1 Q96EU7 VAR_031911 p.Glu152Lys LP/P rs137853599 Tn polyagglutination syndrome (TNPS) [MIM:300622] C1GALT1C1 Q96EU7 VAR_069274 p.Ala143Val LB/B rs45557031 - C1GALT1C1 Q96EU7 VAR_069275 p.Ser193Pro LP/P rs397514537 Tn polyagglutination syndrome (TNPS) [MIM:300622] C1GALT1C1 Q96EU7 VAR_069276 p.Gln222His LB/B rs200973382 - C1GALT1C1 Q96EU7 VAR_088735 p.Ala20Asp LP/P - Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature (AHUS8) [MIM:301110] C1GALT1C1 Q96EU7 VAR_088736 p.Thr89Ile LP/P - Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature (AHUS8) [MIM:301110] C1orf105 O95561 VAR_027710 p.Met97Val LB/B rs16844498 - C1orf105 O95561 VAR_027711 p.Ser137Asn LB/B rs1129942 - C1orf127 Q8N9H9 VAR_031750 p.Ala530Val LB/B rs1281018 - C1orf127 Q8N9H9 VAR_056766 p.Arg256Gln LB/B rs1281012 - C1orf127 Q8N9H9 VAR_056767 p.Val366Asp LB/B rs1281016 - C1orf131 Q8NDD1 VAR_031906 p.Leu28Val LB/B rs2274067 - C1orf141 Q5JVX7 VAR_033186 p.Glu85Gly LB/B rs2273682 - C1orf141 Q5JVX7 VAR_033187 p.Val189Ile LB/B rs11208997 - C1orf162 Q8NEQ5 VAR_035106 p.Gly3Ser LB/B rs6703267 - C1orf167 Q5SNV9 VAR_035266 p.Pro263Ser LB/B rs6668699 - C1orf167 Q5SNV9 VAR_035267 p.Arg483Gln LB/B rs4845880 - C1orf167 Q5SNV9 VAR_035268 p.Arg578Trp LB/B rs6667720 - C1orf167 Q5SNV9 VAR_035269 p.Trp758Arg LB/B rs6699881 - C1orf167 Q5SNV9 VAR_035270 p.Arg776Cys LB/B rs7538516 - C1orf167 Q5SNV9 VAR_035271 p.Ser824Ile LB/B rs6697244 - C1orf167 Q5SNV9 VAR_035272 p.Arg920His LB/B rs4846043 - C1orf167 Q5SNV9 VAR_035273 p.Trp931Arg LB/B rs4846044 - C1orf167 Q5SNV9 VAR_035274 p.Arg1191His LB/B rs3737967 - C1orf167 Q5SNV9 VAR_035275 p.Cys1271Ser LB/B rs1537514 - C1orf167 Q5SNV9 VAR_035276 p.Arg1432Gly LB/B rs868014 - C1orf174 Q8IYL3 VAR_033152 p.Thr53Arg LB/B rs4274008 - C1orf174 Q8IYL3 VAR_033153 p.Ala101Ser LB/B rs10909820 - C1orf174 Q8IYL3 VAR_057829 p.Pro165Ala LB/B rs12036962 - C1orf198 Q9H425 VAR_050707 p.Ala274Ser LB/B rs34864456 - C1orf198 Q9H425 VAR_050708 p.Lys306Arg LB/B rs35115679 - C1orf210 Q8IVY1 VAR_033655 p.Ser12Leu LB/B rs35465732 - C1orf220 Q5T0J3 VAR_056768 p.Pro3Leu LB/B rs12568310 - C1orf50 Q9BV19 VAR_054409 p.Thr178Met LB/B rs11548275 - C1orf74 Q96LT6 VAR_050701 p.Leu146Phe LB/B rs7550857 - C1orf87 Q8N0U7 VAR_031745 p.Leu185Val LB/B rs12737449 - C1orf87 Q8N0U7 VAR_031746 p.Asn301Asp LB/B rs17120025 - C1orf87 Q8N0U7 VAR_031747 p.Lys403Glu LB/B rs626251 - C1orf87 Q8N0U7 VAR_031748 p.Ala406Pro LB/B rs35260089 - C1orf87 Q8N0U7 VAR_035493 p.Gln151Glu US - A breast cancer sample C1orf94 Q6P1W5 VAR_031051 p.Gln235Glu LB/B rs1382602 - C1orf94 Q6P1W5 VAR_031052 p.Asp302Glu LB/B rs1414474 - C1orf94 Q6P1W5 VAR_050702 p.Tyr438His LB/B rs17556981 - C1QA P02745 VAR_021090 p.Glu23Lys LB/B rs17887074 - C1QB P02746 VAR_008541 p.Gly42Asp LP/P - C1q deficiency 2 (C1QD2) [MIM:620321] C1QB P02746 VAR_035551 p.Ala123Thr US rs776292843 A breast cancer sample C1QBP Q07021 VAR_080391 p.Cys186Ser US rs748497469 Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713] C1QBP Q07021 VAR_080393 p.Phe204Leu US rs767427194 Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713] C1QBP Q07021 VAR_080394 p.Gly247Trp LP/P rs1394499137 Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713] C1QBP Q07021 VAR_080395 p.Leu275Phe US rs1555532484 Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713] C1QBP Q07021 VAR_080396 p.Leu275Pro LP/P rs1555532483 Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713] C1QC P02747 VAR_008542 p.Gly34Arg LP/P rs200206736 C1q deficiency 3 (C1QD3) [MIM:620322] C1QTNF1 Q9BXJ1 VAR_068885 p.Arg241Gln LB/B rs35035542 - C1QTNF12 Q5T7M4 VAR_054065 p.Gly14Arg LB/B rs7539412 - C1QTNF4 Q9BXJ3 VAR_081086 p.His198Gln US - - C1QTNF4 Q9BXJ3 VAR_081087 p.Gly301Asp US rs1418830230 - C1QTNF5 Q9BXJ0 VAR_032628 p.Gln44Arg LB/B rs11538245 - C1QTNF5 Q9BXJ0 VAR_032629 p.Ser163Arg LP/P rs111033578 Late-onset retinal degeneration (LORD) [MIM:605670] C1QTNF6 Q9BXI9 VAR_046624 p.Gly21Val LB/B rs229527 - C1QTNF6 Q9BXI9 VAR_046625 p.Pro42Arg LB/B rs229526 - C1QTNF6 Q9BXI9 VAR_046626 p.Gly55Asp LB/B rs7290488 - C1QTNF6 Q9BXI9 VAR_046627 p.Pro138Leu LB/B rs17812699 - C1QTNF6 Q9BXI9 VAR_046628 p.Arg226His LB/B rs17812681 - C1QTNF9 P0C862 VAR_032840 p.Met219Val LB/B rs3751357 - C1QTNF9 P0C862 VAR_032841 p.Val301Met LB/B rs4589405 - C1QTNF9 P0C862 VAR_059148 p.Leu6Phe LB/B rs1974332 - C1R P00736 VAR_016103 p.Ser152Leu LB/B rs1801046 - C1R P00736 VAR_018667 p.Tyr131His LB/B rs1278295523 - C1R P00736 VAR_018668 p.His163Tyr LB/B rs144141261 - C1R P00736 VAR_018669 p.Glu184Lys LB/B rs1126605 - C1R P00736 VAR_018670 p.Gly261Arg LB/B rs3813728 - C1R P00736 VAR_047933 p.Thr186Arg LB/B rs4519167 - C1R P00736 VAR_077106 p.Val50Asp LP/P - Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077107 p.Asp290Gly US rs1057518643 Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077108 p.Gly297Asp US rs1057519026 Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077109 p.Leu300Pro US rs1057515579 Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077110 p.Arg301Pro US rs760277934 Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077111 p.Tyr302Cys LP/P rs1057519576 Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077113 p.Cys309Trp LP/P rs769707492 Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077114 p.Cys338Arg LP/P rs1057519577 Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077115 p.Cys358Phe LP/P rs1057518645 Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077116 p.Trp364Cys US rs1057519578 Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077117 p.Cys371Trp LP/P rs1057519579 Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077119 p.Trp435Arg US rs1060499554 Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1RL Q9NZP8 VAR_038852 p.Ile285Val LB/B rs3742089 - C1S P09871 VAR_014565 p.Arg383His LB/B rs20573 - C1S P09871 VAR_033643 p.Arg119His LB/B rs12146727 - C1S P09871 VAR_033644 p.Val327Leu LB/B rs2239170 - C1S P09871 VAR_077120 p.Cys294Arg LP/P rs886040975 Ehlers-Danlos syndrome, periodontal type, 2 (EDSPD2) [MIM:617174] C2 P06681 VAR_008544 p.Cys131Tyr LP/P rs760744400 Complement component 2 deficiency (C2D) [MIM:217000] C2 P06681 VAR_008545 p.Ser209Phe LP/P rs28934590 Complement component 2 deficiency (C2D) [MIM:217000] C2 P06681 VAR_008546 p.Gly464Arg LP/P rs151340617 Complement component 2 deficiency (C2D) [MIM:217000] C2 P06681 VAR_011772 p.Phe533Leu LB/B rs1042664 - C2 P06681 VAR_019158 p.Glu318Asp LB/B rs9332739 - C2 P06681 VAR_019159 p.Arg734Cys LB/B rs4151648 - C20orf144 Q9BQM9 VAR_050921 p.Gln62Arg LB/B rs7260921 - C20orf173 Q96LM9 VAR_024334 p.Lys141Glu LB/B rs7261862 - C20orf96 Q9NUD7 VAR_056847 p.Ile305Phe LB/B rs3827147 - C22orf23 Q9BZE7 VAR_057346 p.Met136Leu LB/B rs35562630 - C22orf31 O95567 VAR_028808 p.Cys46Arg LB/B rs9625679 - C22orf31 O95567 VAR_028809 p.Thr210Arg LB/B rs714136 - C22orf42 Q6IC83 VAR_045606 p.Leu73Pro LB/B rs5998267 - C2CD2 Q9Y426 VAR_050928 p.Val211Ala LB/B rs2839421 - C2CD2 Q9Y426 VAR_050929 p.Thr618Ala LB/B rs9981024 - C2CD2L O14523 VAR_028797 p.Arg413Trp LB/B rs2239896 - C2CD3 Q4AC94 VAR_037181 p.Pro773Arg LB/B rs34050666 - C2CD3 Q4AC94 VAR_037182 p.Arg997Gln LB/B rs11235995 - C2CD3 Q4AC94 VAR_037183 p.Arg1219Gln LB/B rs826058 - C2CD3 Q4AC94 VAR_037184 p.Tyr1297Cys LB/B rs1095423 - C2CD3 Q4AC94 VAR_037185 p.Ser1663Asn LB/B rs12419308 - C2CD3 Q4AC94 VAR_037186 p.Gly1831Trp LB/B rs1632245 - C2CD3 Q4AC94 VAR_037187 p.Arg1832Gly LB/B rs1632242 - C2CD3 Q4AC94 VAR_071196 p.Cys1029Gly LP/P rs587777654 Orofaciodigital syndrome 14 (OFD14) [MIM:615948] C2CD3 Q4AC94 VAR_075697 p.Gly1743Cys LB/B rs1064793399 - C2CD4B A6NLJ0 VAR_039696 p.Phe276Val LB/B rs8040712 - C2CD4B A6NLJ0 VAR_039697 p.Asp346Glu LB/B rs1055090 - C2CD6 Q53TS8 VAR_024769 p.His376Gln LB/B rs10804117 - C2CD6 Q53TS8 VAR_035787 p.Lys123Met US - A colorectal cancer sample C2CD6 Q53TS8 VAR_086977 p.His113Arg US - Spermatogenic failure 68 (SPGF68) [MIM:619805] C2orf42 Q9NWW7 VAR_050712 p.Gln314Pro LB/B rs3213941 - C2orf48 Q96LS8 VAR_029619 p.Pro90Leu LB/B rs13406078 - C2orf48 Q96LS8 VAR_050713 p.Trp119Ser LB/B rs7423163 - C2orf49 Q9BVC5 VAR_029759 p.Gly185Asp LB/B rs28930676 - C2orf73 Q8N5S3 VAR_042973 p.Pro254Leu LB/B rs2280718 - C2orf73 Q8N5S3 VAR_042974 p.Arg275Thr LB/B rs13184 - C2orf73 Q8N5S3 VAR_061571 p.His29Asn LB/B rs55714450 - C2orf76 Q3KRA6 VAR_039931 p.Ile46Val LB/B rs1132267 - C2orf76 Q3KRA6 VAR_039932 p.Lys116Arg LB/B rs1052500 - C2orf80 Q0P641 VAR_050717 p.Arg82His LB/B rs11898181 - C2orf80 Q0P641 VAR_050718 p.Cys130Arg LB/B rs6435421 - C2orf80 Q0P641 VAR_050719 p.Ser152Gly LB/B rs10804166 - C2orf83 Q53S99 VAR_039201 p.Glu104Gln LB/B rs2138402 - C2orf83 Q53S99 VAR_061865 p.Ser45Leu LB/B rs28739019 - C2orf88 Q9BSF0 VAR_046151 p.Thr56Ile LB/B rs6753459 - C3 P01024 VAR_001983 p.Arg102Gly LB/B rs2230199 - C3 P01024 VAR_001984 p.Pro314Leu LB/B rs1047286 - C3 P01024 VAR_001985 p.Asp549Asn LP/P rs1449441916 Complement component 3 deficiency (C3D) [MIM:613779] C3 P01024 VAR_019206 p.Arg863Lys LB/B rs11569472 - C3 P01024 VAR_019207 p.Gly1224Asp LB/B rs11569534 - C3 P01024 VAR_019208 p.Ile1367Thr LB/B rs11569541 - C3 P01024 VAR_020262 p.Glu469Asp LB/B rs11569422 - C3 P01024 VAR_029326 p.Ser1619Arg LB/B rs2230210 - C3 P01024 VAR_029792 p.Gln1521Arg LB/B rs7256789 - C3 P01024 VAR_029793 p.His1601Asn LB/B rs1803225 - C3 P01024 VAR_063213 p.Arg592Gln LP/P rs121909583 Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063214 p.Arg592Trp LP/P rs771353792 Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063215 p.Arg735Trp LP/P rs117793540 Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063216 p.Ala1094Val LP/P rs121909584 Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063217 p.Asp1115Asn LP/P rs121909585 Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063218 p.Cys1158Trp LP/P - Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063219 p.Gln1161Lys LP/P - Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063220 p.His1464Asp LP/P - Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063654 p.Phe603Val LP/P - Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063655 p.Arg1042Leu LP/P - Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] C3 P01024 VAR_070941 p.Lys155Gln LP/P rs147859257 Macular degeneration, age-related, 9 (ARMD9) [MIM:611378] C3AR1 Q16581 VAR_019164 p.Val136Ala LB/B rs11567806 - C3orf18 Q9UK00 VAR_025720 p.Ala8Asp LB/B rs386598 - C3orf18 Q9UK00 VAR_025721 p.Ala162Val LB/B rs1034405 - C3orf20 Q8ND61 VAR_025722 p.Ala176Thr LB/B rs17040196 - C3orf20 Q8ND61 VAR_027886 p.Gly42Asp LB/B rs17040154 - C3orf20 Q8ND61 VAR_027887 p.Asp65Asn LB/B rs9821143 - C3orf20 Q8ND61 VAR_027888 p.Ser230Tyr LB/B rs17852774 - C3orf20 Q8ND61 VAR_027889 p.Ala298Thr LB/B rs17040196 - C3orf20 Q8ND61 VAR_027890 p.Ile407Val LB/B rs6765537 - C3orf20 Q8ND61 VAR_027891 p.Leu422Val LB/B rs6790129 - C3orf20 Q8ND61 VAR_056770 p.Gln205Arg LB/B rs34230332 - C3orf20 Q8ND61 VAR_056771 p.Ala689Val LB/B rs34045813 - C3orf33 Q6P1S2 VAR_028846 p.Ala47Thr LB/B rs9853408 - C3orf33 Q6P1S2 VAR_028847 p.Ser160Asn LB/B rs358733 - C3orf62 Q6ZUJ4 VAR_050724 p.Glu110Lys LB/B rs13077498 - C3P1 Q6ZMU1 VAR_044412 p.Gln172Arg LB/B rs8113341 - C3P1 Q6ZMU1 VAR_044413 p.Asp230Asn LB/B rs10403787 - C3P1 Q6ZMU1 VAR_044414 p.Asp251Gly LB/B rs1993466 - C3P1 Q6ZMU1 VAR_044415 p.Leu262Arg LB/B rs4552116 - C4A P0C0L4 VAR_001987 p.Arg477Trp LB/B rs1554297700 - C4A P0C0L4 VAR_001988 p.Pro726Leu LB/B rs1215093373 - C4A P0C0L4 VAR_001992 p.Thr1201Ser LB/B - - C4A P0C0L4 VAR_001993 p.Val1207Ala LB/B rs28357075 - C4A P0C0L4 VAR_001994 p.Leu1210Arg LB/B rs28357076 - C4A P0C0L4 VAR_001995 p.Ser1286Ala LB/B rs201016130 - C4A P0C0L4 VAR_019778 p.Ser347Tyr LB/B rs392610 - C4A P0C0L4 VAR_019779 p.Asp727Asn LB/B - - C4A P0C0L4 VAR_019780 p.Ala907Thr LB/B rs429329 - C4A P0C0L4 VAR_069154 p.Leu141Val LB/B rs1554297620 - C4A P0C0L4 VAR_069155 p.Val418Ala LB/B - - C4A P0C0L4 VAR_069156 p.His549Pro LB/B rs1554297705 - C4A P0C0L4 VAR_069158 p.Asp1073Gly LB/B rs147162052 - C4A P0C0L4 VAR_069159 p.Asn1176Ser LB/B rs17874654 - C4B P0C0L5 VAR_023729 p.Ser347Tyr LB/B rs139889867 - C4B P0C0L5 VAR_023730 p.Thr907Ala LB/B rs796750528 - C4B P0C0L5 VAR_023731 p.Gly1073Asp LB/B rs2258218 - C4B P0C0L5 VAR_023732 p.Ser1176Asn LB/B rs2746414 - C4B P0C0L5 VAR_023734 p.Ala1207Val LB/B rs2229403 - C4B P0C0L5 VAR_023735 p.Arg1210Leu LB/B rs2229409 - C4B P0C0L5 VAR_069160 p.Pro478Leu LB/B - - C4B P0C0L5 VAR_069161 p.Ile1317Phe LB/B rs2023616 - C4BPA P04003 VAR_001978 p.Tyr357His LB/B - - C4BPA P04003 VAR_012038 p.Trp473Leu LB/B rs1801341 - C4BPA P04003 VAR_024420 p.Ile300Thr LB/B rs4844573 - C4BPA P04003 VAR_048815 p.Ala60Val LB/B rs17020956 - C4BPA P04003 VAR_061123 p.Pro4Gln LB/B rs55867570 - C4BPA P04003 VAR_061124 p.Arg240His LB/B rs45574833 - C4BPB P20851 VAR_012039 p.Pro198Ser LB/B rs1803226 - C4BPB P20851 VAR_038734 p.Lys102Gln LB/B rs56258224 - C4orf17 Q53FE4 VAR_028110 p.Gly64Glu LB/B rs13143848 - C4orf17 Q53FE4 VAR_028111 p.Ser85Pro LB/B rs13119384 - C4orf17 Q53FE4 VAR_028112 p.Glu91Lys LB/B rs17029087 - C4orf19 Q8IY42 VAR_032118 p.Ala151Thr LB/B rs2973275 - C4orf19 Q8IY42 VAR_032119 p.Glu274Gly LB/B rs3733500 - C4orf19 Q8IY42 VAR_050770 p.Asp39Glu LB/B rs6852908 - C4orf3 Q8WVX3 VAR_039911 p.Arg17Gln LB/B rs17851522 - C4orf3 Q8WVX3 VAR_039912 p.Pro32His LB/B rs11544530 - C4orf33 Q8N1A6 VAR_033334 p.Arg40Met LB/B rs35199409 - C4orf33 Q8N1A6 VAR_033335 p.Ser104Leu LB/B rs2271570 - C4orf33 Q8N1A6 VAR_033336 p.Met107Val LB/B rs337277 - C4orf33 Q8N1A6 VAR_033337 p.His166Arg LB/B rs17351999 - C4orf36 Q96KX1 VAR_029755 p.Ser36Tyr LB/B rs1550931 - C4orf36 Q96KX1 VAR_056784 p.Ser18Asn LB/B rs11938345 - C4orf50 Q6ZRC1 VAR_042680 p.Arg86Trp LB/B rs16837960 - C4orf50 Q6ZRC1 VAR_042681 p.Ala150Pro US - A breast cancer sample C4orf50 Q6ZRC1 VAR_042682 p.Ile177Val LB/B rs6839295 - C4orf50 Q6ZRC1 VAR_042683 p.Val199Met LB/B rs7695618 - C4orf54 D6RIA3 VAR_080344 p.Gly595Arg US rs1034287647 - C4orf54 D6RIA3 VAR_080345 p.Phe1415Ser US rs555103041 - C4orf54 D6RIA3 VAR_080346 p.Thr1632Ile US - - C5 P01031 VAR_001996 p.Phe518Ser LB/B - - C5 P01031 VAR_014574 p.Val802Ile LB/B rs17611 - C5 P01031 VAR_014575 p.Met1053Leu LB/B rs17609 - C5 P01031 VAR_014576 p.Ser1310Asn LB/B rs17610 - C5 P01031 VAR_014577 p.Glu1437Asp LB/B rs17612 - C5 P01031 VAR_023946 p.Thr389Ile LB/B - - C5 P01031 VAR_038735 p.Val145Ile LB/B rs17216529 - C5 P01031 VAR_038736 p.Arg449Gly LB/B rs2230213 - C5 P01031 VAR_038737 p.Arg928Gln LB/B rs41309892 - C5 P01031 VAR_038738 p.Gly933Val LB/B rs41309902 - C5 P01031 VAR_038739 p.Ile1033Thr LB/B rs41311881 - C5 P01031 VAR_038740 p.Asp1037Asn LB/B rs41311883 - C5 P01031 VAR_038741 p.Gln1043Lys LB/B rs41311887 - C5 P01031 VAR_048822 p.Leu354Met LB/B rs34552775 - C5 P01031 VAR_048823 p.Asp966Tyr LB/B rs2230212 - C5 P01031 VAR_048824 p.Val1365Ala LB/B rs16910245 - C5 P01031 VAR_071067 p.Arg885Cys LB/B rs373359894 - C5 P01031 VAR_071068 p.Arg885His LB/B rs56040400 - C5AR1 P21730 VAR_049377 p.Asp2Asn LB/B rs4467185 - C5AR1 P21730 VAR_049378 p.Lys279Asn LB/B rs11880097 - C5AR2 Q9P296 VAR_068748 p.Pro233Leu LB/B rs149572881 - C5AR2 Q9P296 VAR_068749 p.Ser323Ile US rs150599989 - C5orf22 Q49AR2 VAR_035149 p.Thr235Pro LB/B rs17410000 - C5orf22 Q49AR2 VAR_035150 p.Asp405Glu LB/B rs16901277 - C5orf34 Q96MH7 VAR_035618 p.Ser266Arg US - A breast cancer sample C5orf46 Q6UWT4 VAR_056787 p.Phe18Ile LB/B rs7722926 - C5orf60 A6NFR6 VAR_044323 p.Arg55Cys LB/B rs1319931 - C5orf60 A6NFR6 VAR_044324 p.Leu56Pro LB/B rs13168357 - C6 P13671 VAR_006056 p.Ala119Glu LB/B rs1801033 - C6 P13671 VAR_027647 p.Lys397Glu LB/B rs6896011 - C6 P13671 VAR_027648 p.Ser470Phe LB/B rs10462014 - C6orf118 Q5T5N4 VAR_022887 p.Ile256Met LB/B rs510579 - C6orf118 Q5T5N4 VAR_022888 p.Val363Leu LB/B rs9459350 - C6orf118 Q5T5N4 VAR_050807 p.Arg166Leu LB/B rs36007498 - C6orf118 Q5T5N4 VAR_050808 p.Gly271Glu LB/B rs17852379 - C6orf118 Q5T5N4 VAR_050809 p.Thr301Met LB/B rs540751 - C6orf118 Q5T5N4 VAR_050810 p.Arg385Gln LB/B rs17856754 - C6orf132 Q5T0Z8 VAR_056799 p.Lys4Asn LB/B rs9688934 - C6orf141 Q5SZD1 VAR_022939 p.Gln137Glu LB/B rs6919674 - C6orf141 Q5SZD1 VAR_030643 p.Pro235Leu LB/B rs9473588 - C6orf15 Q6UXA7 VAR_022907 p.Leu40Phe LB/B rs2233974 - C6orf15 Q6UXA7 VAR_022908 p.Asn43Asp LB/B rs2233975 - C6orf15 Q6UXA7 VAR_022909 p.Ala83Pro LB/B rs1265053 - C6orf15 Q6UXA7 VAR_022910 p.Lys165Glu LB/B rs1265054 - C6orf15 Q6UXA7 VAR_028732 p.Val81Ala LB/B rs2233977 - C6orf15 Q6UXA7 VAR_028733 p.Ala145Pro LB/B rs2233978 - C6orf15 Q6UXA7 VAR_028734 p.Gly291Asp LB/B rs2233984 - C6orf15 Q6UXA7 VAR_050801 p.Gly48Arg LB/B rs2233976 - C6orf15 Q6UXA7 VAR_050802 p.Met232Ile LB/B rs2233982 - C6orf15 Q6UXA7 VAR_054399 p.Val5Met LB/B rs2270191 - C6orf47 O95873 VAR_022911 p.Gly68Arg LB/B rs3130617 - C6orf47 O95873 VAR_056797 p.Lys92Asn LB/B rs2242655 - C6orf52 Q5T4I8 VAR_033318 p.Ala13Asp LB/B rs7749306 - C6orf62 Q9GZU0 VAR_050803 p.Trp116Cys LB/B rs34238213 - C6orf62 Q9GZU0 VAR_050804 p.Arg140Ser LB/B rs35050510 - C7 P10643 VAR_012643 p.Arg220Gln LP/P rs369349760 Complement component 7 deficiency (C7D) [MIM:610102] C7 P10643 VAR_012644 p.Gly379Arg LP/P rs121964921 Complement component 7 deficiency (C7D) [MIM:610102] C7 P10643 VAR_012645 p.Arg521Ser LP/P rs121964920 Complement component 7 deficiency (C7D) [MIM:610102] C7 P10643 VAR_012646 p.Glu682Gln LP/P rs541873000 Complement component 7 deficiency (C7D) [MIM:610102] C7 P10643 VAR_012647 p.Arg687His LP/P rs113187203 Complement component 7 deficiency (C7D) [MIM:610102] C7 P10643 VAR_022023 p.Lys420Gln LB/B rs3792646 - C7 P10643 VAR_033798 p.Ser389Thr LB/B rs1063499 - C7 P10643 VAR_033799 p.Thr587Pro LB/B rs13157656 - C7 P10643 VAR_050480 p.Cys128Arg LB/B rs2271708 - C7 P10643 VAR_081726 p.Arg222His LB/B rs75345202 - C7orf25 Q9BPX7 VAR_053848 p.Gly265Glu LB/B rs3735471 - C7orf57 Q8NEG2 VAR_056813 p.Ala74Ser LB/B rs10951942 - C8A P07357 VAR_011889 p.Gln93Lys LB/B rs652785 - C8A P07357 VAR_011890 p.Thr407Ile LB/B rs706479 - C8A P07357 VAR_011891 p.Arg485Leu LB/B rs1620075 - C8A P07357 VAR_011892 p.Glu561Gln LB/B rs1342440 - C8A P07357 VAR_033800 p.Asp458Asn LB/B rs17114555 - C8A P07357 VAR_033801 p.Pro575Leu LB/B rs17300936 - C8B P07358 VAR_012642 p.Gly117Arg LB/B rs1013579 - C8B P07358 VAR_027649 p.Glu108Lys LB/B rs12067507 - C8B P07358 VAR_027650 p.Pro261Leu LB/B rs12085435 - C8G P07360 VAR_014668 p.Arg69Gln LB/B rs17614 - C8G P07360 VAR_014669 p.His124Asn LB/B rs17613 - C8G P07360 VAR_044319 p.Asp118Gly LB/B rs7850844 - C8orf17 Q9NRJ1 VAR_042878 p.Thr19Met LB/B rs2233233 - C8orf17 Q9NRJ1 VAR_042879 p.Lys49Arg LB/B rs2233235 - C8orf17 Q9NRJ1 VAR_042880 p.Thr57Ile LB/B rs2233236 - C8orf34 Q49A92 VAR_042690 p.Lys161Asn US - A colorectal cancer sample C8orf34 Q49A92 VAR_042691 p.Ala512Thr LB/B rs16935065 - C8orf44 Q96CB5 VAR_030888 p.Gln131Arg LB/B rs1909534 - C8orf44 Q96CB5 VAR_030889 p.Phe148Ser LB/B rs1057463 - C8orf48 Q96LL4 VAR_063134 p.Ser28Phe LB/B rs13273355 - C8orf48 Q96LL4 VAR_063135 p.Leu285Met LB/B rs11203497 - C8orf74 Q6P047 VAR_033684 p.Leu15Phe LB/B rs11250058 - C8orf74 Q6P047 VAR_061596 p.Ile222Val LB/B rs57041981 - C9 P02748 VAR_012648 p.Cys119Gly LP/P rs121909593 Complement component 9 deficiency (C9D) [MIM:613825] C9 P02748 VAR_022024 p.Arg5Trp LB/B rs700233 - C9 P02748 VAR_027651 p.Ile203Val LB/B rs13361416 - C9 P02748 VAR_033802 p.Thr279Ser LB/B rs34625111 - C9 P02748 VAR_050481 p.Asp127Tyr LB/B rs696763 - C9 P02748 VAR_061503 p.Ser427Thr LB/B rs34421659 - C9 P02748 VAR_070940 p.Pro167Ser LP/P rs34882957 Macular degeneration, age-related, 15 (ARMD15) [MIM:615591] C9orf163 Q8N9P6 VAR_032526 p.Leu5Pro LB/B rs34376913 - C9orf43 Q8TAL5 VAR_061597 p.Asp252Gly LB/B rs41313331 - C9orf50 Q5SZB4 VAR_033220 p.Arg248Lys LB/B rs918165 - C9orf50 Q5SZB4 VAR_033221 p.Arg312Gln LB/B rs3213763 - C9orf50 Q5SZB4 VAR_033222 p.Arg381Gln LB/B rs2302779 - C9orf50 Q5SZB4 VAR_033223 p.Lys415Arg LB/B rs3087721 - C9orf72 Q96LT7 VAR_050827 p.Asn207Ser LB/B rs17769294 - C9orf78 Q9NZ63 VAR_050828 p.Gln70His LB/B rs1237745 - CA1 P00915 VAR_001378 p.His68Arg LB/B rs990757234 - CA1 P00915 VAR_001379 p.Gly254Arg LB/B rs121909577 - CA1 P00915 VAR_048679 p.Ala143Val LB/B rs7821248 - CA12 O43570 VAR_065292 p.Glu143Lys LP/P rs267606694 Hyperchlorhidrosis, isolated (HYCHL) [MIM:143860] CA12 O43570 VAR_081182 p.His121Gln LP/P rs775067652 Hyperchlorhidrosis, isolated (HYCHL) [MIM:143860] CA13 Q8N1Q1 VAR_059207 p.Asn68Ser LB/B rs4740046 - CA2 P00918 VAR_001380 p.Lys18Glu LB/B rs118203931 - CA2 P00918 VAR_001381 p.Gln92Pro LP/P rs1304160279 Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] CA2 P00918 VAR_001382 p.His107Tyr LP/P rs118203933 Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] CA2 P00918 VAR_001383 p.Pro236His LB/B rs118203932 - CA2 P00918 VAR_001384 p.Asn252Asp LB/B rs2228063 - CA2 P00918 VAR_021009 p.His94Tyr LP/P - Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] CA2 P00918 VAR_021010 p.Gly144Arg LP/P - Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] CA3 P07451 VAR_016180 p.Val31Ile LB/B rs20571 - CA4 P22748 VAR_024749 p.Arg14Trp LP/P rs104894559 Retinitis pigmentosa 17 (RP17) [MIM:600852] CA4 P22748 VAR_024750 p.Arg219Ser LP/P rs121434551 Retinitis pigmentosa 17 (RP17) [MIM:600852] CA4 P22748 VAR_048680 p.Val237Leu LB/B rs2229178 - CA4 P22748 VAR_071430 p.Ala12Thr LP/P rs1245199379 Retinitis pigmentosa 17 (RP17) [MIM:600852] CA4 P22748 VAR_071431 p.Arg69His LP/P rs121434552 Retinitis pigmentosa 17 (RP17) [MIM:600852] CA4 P22748 VAR_071432 p.Asn177Lys LB/B rs185942554 - CA5A P35218 VAR_071188 p.Ser233Pro LP/P rs587777316 Hyperammonemia due to carbonic anhydrase VA deficiency (CA5AD) [MIM:615751] CA6 P23280 VAR_028268 p.Thr55Met LB/B rs2274327 - CA6 P23280 VAR_028269 p.Met68Leu LB/B rs2274328 - CA6 P23280 VAR_028270 p.Gly70Ala LB/B rs2274329 - CA6 P23280 VAR_028271 p.Ser90Gly LB/B rs2274333 - CA6 P23280 VAR_033712 p.Gln37Leu LB/B rs34265054 - CA6 P23280 VAR_061093 p.Arg58Trp LB/B rs58800854 - CA8 P35219 VAR_063634 p.Ser100Pro LP/P rs267606695 Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 (CAMRQ3) [MIM:613227] CA9 Q16790 VAR_010787 p.Val33Met LB/B rs2071676 - CA9 Q16790 VAR_020049 p.Gln326Arg LB/B rs3829078 - CAAP1 Q9H8G2 VAR_056818 p.Val233Met LB/B rs12342214 - CABIN1 Q9Y6J0 VAR_052607 p.Ala56Thr LB/B rs5760185 - CABIN1 Q9Y6J0 VAR_052608 p.Asp225Asn LB/B rs17004823 - CABIN1 Q9Y6J0 VAR_052609 p.Ser517Arg LB/B rs9624393 - CABIN1 Q9Y6J0 VAR_052610 p.Arg660Ser LB/B rs9624395 - CABIN1 Q9Y6J0 VAR_052611 p.Arg853Gln LB/B rs17854874 - CABIN1 Q9Y6J0 VAR_052612 p.Gln921Glu LB/B rs12166151 - CABLES2 Q9BTV7 VAR_026532 p.Thr428Lys LB/B rs6089219 - CABP2 Q9NPB3 VAR_063087 p.Arg94Gln LB/B rs2276118 - CABP4 P57796 VAR_029375 p.Arg124Cys LP/P rs121917828 Cone-rod synaptic disorder, congenital non-progressive (CRSD) [MIM:610427] CABP5 Q9NP86 VAR_020020 p.Val128Ala LB/B rs3745746 - CABP5 Q9NP86 VAR_033695 p.Thr65Arg LB/B rs34862923 - CABP5 Q9NP86 VAR_048633 p.Leu80Pro LB/B rs8105198 - CABP5 Q9NP86 VAR_048634 p.Glu140Lys LB/B rs34681062 - CABP5 Q9NP86 VAR_048635 p.Ile147Ser LB/B rs10425606 - CABS1 Q96KC9 VAR_043924 p.Lys76Gln LB/B rs3796706 - CABS1 Q96KC9 VAR_043925 p.Thr211Ile LB/B rs1351419 - CABS1 Q96KC9 VAR_043926 p.Trp298Gly LB/B rs2291182 - CABYR O75952 VAR_023818 p.Ser490Ala LB/B rs1049683 - CABYR O75952 VAR_030040 p.Thr74Met LB/B rs3786417 - CABYR O75952 VAR_030041 p.Lys448Arg LB/B rs1049682 - CABYR O75952 VAR_050709 p.Ile186Val LB/B rs35118855 - CACFD1 Q9UGQ2 VAR_069103 p.Ile58Met LB/B rs3124765 - CACHD1 Q5VU97 VAR_035052 p.Met414Thr LB/B rs6588100 - CACNA1A O00555 VAR_001491 p.Arg192Gln LP/P rs121908211 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_001492 p.Thr665Met LP/P rs121908212 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_001492 p.Thr665Met LP/P rs121908212 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_001493 p.Val713Ala LP/P rs121908213 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_001494 p.Ile1809Leu LP/P rs121908214 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_014456 p.Ala21Val LB/B rs15999 - CACNA1A O00555 VAR_014458 p.Pro913Ser LB/B rs16020 - CACNA1A O00555 VAR_014459 p.Glu917Asp LB/B rs16022 - CACNA1A O00555 VAR_014461 p.Glu1014Lys LB/B rs16024 - CACNA1A O00555 VAR_014462 p.Gly1104Ser LB/B rs16027 - CACNA1A O00555 VAR_014463 p.Pro2395Ser LB/B rs16056 - CACNA1A O00555 VAR_043820 p.Arg195Lys LP/P rs121908222 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043821 p.Ser218Leu LP/P rs121908225 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043822 p.His253Tyr LP/P rs121908228 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043823 p.Cys256Arg LP/P rs121908231 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043824 p.Cys287Tyr LP/P rs121908236 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043825 p.Gly293Arg LP/P rs121908215 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043825 p.Gly293Arg LP/P rs121908215 Spinocerebellar ataxia 6 (SCA6) [MIM:183086] CACNA1A O00555 VAR_043826 p.Arg582Gln LP/P rs121908217 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043826 p.Arg582Gln LP/P rs121908217 Spinocerebellar ataxia 6 (SCA6) [MIM:183086] CACNA1A O00555 VAR_043827 p.Asp714Glu LP/P rs121908218 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043828 p.Glu992Val LB/B rs16023 - CACNA1A O00555 VAR_043829 p.Lys1334Glu LP/P rs121908223 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043830 p.Arg1345Gln LP/P rs121908230 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043831 p.Tyr1383Cys LP/P rs121908219 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043832 p.Phe1402Cys LP/P rs121908227 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043833 p.Val1455Leu LP/P rs121908237 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043834 p.Gly1481Arg LP/P rs121908232 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043835 p.Phe1489Ser LP/P rs121908233 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043836 p.Val1492Ile LP/P rs121908234 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043837 p.Arg1660His LP/P rs121908216 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043838 p.Arg1666Trp LP/P rs121908220 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043839 p.Trp1682Arg LP/P rs121908221 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043840 p.His1735Leu LP/P rs121908229 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043841 p.Glu1755Lys LP/P rs121908226 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043842 p.Arg2134Cys LP/P rs121908235 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_059221 p.Glu731Ala LB/B rs16019 - CACNA1A O00555 VAR_059222 p.Pro1172Leu LB/B rs16028 - CACNA1A O00555 VAR_063683 p.Tyr248Cys LP/P rs121908238 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063684 p.Leu389Phe LP/P rs121908239 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063685 p.Ala405Thr LP/P rs121908245 Spinocerebellar ataxia 6 (SCA6) [MIM:183086] CACNA1A O00555 VAR_063686 p.Ala453Thr LB/B rs41276886 - CACNA1A O00555 VAR_063687 p.Thr500Met LP/P rs121908240 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063688 p.Gly637Asp LP/P rs121908246 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063689 p.Met797Thr LP/P rs121908241 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063690 p.Pro896Arg LP/P rs121908242 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063691 p.Arg1663Gln LP/P rs121908247 Spinocerebellar ataxia 6 (SCA6) [MIM:183086] CACNA1A O00555 VAR_063692 p.Arg1678Cys LP/P rs121908243 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063693 p.Cys1868Arg LP/P rs121908244 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063706 p.Val1694Ile LP/P rs121908224 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_067342 p.Glu388Lys LP/P - Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_077071 p.Glu101Gln LP/P rs886037944 Developmental and epileptic encephalopathy 42 (DEE42) [MIM:617106] CACNA1A O00555 VAR_077072 p.Ala712Thr LP/P rs886037945 Developmental and epileptic encephalopathy 42 (DEE42) [MIM:617106] CACNA1A O00555 VAR_077073 p.Trp1435Arg LP/P - Developmental and epileptic encephalopathy 42 (DEE42) [MIM:617106] CACNA1A O00555 VAR_077075 p.Ala1507Ser LP/P rs886037946 Developmental and epileptic encephalopathy 42 (DEE42) [MIM:617106] CACNA1A O00555 VAR_079826 p.Arg1672Pro LB/B rs1057519429 - CACNA1A O00555 VAR_080738 p.Asp1337Tyr LP/P rs1568473283 Spinocerebellar ataxia 6 (SCA6) [MIM:183086] CACNA1A O00555 VAR_085042 p.Asp1633Asn US rs1555740805 - CACNA1B Q00975 VAR_048741 p.Asn167Lys LB/B rs4422842 - CACNA1B Q00975 VAR_048742 p.Glu1436Lys LB/B rs1322525317 - CACNA1B Q00975 VAR_048743 p.Glu1500Lys LB/B rs12377346 - CACNA1B Q00975 VAR_061100 p.Ala862Ser LB/B rs7873074 - CACNA1B Q00975 VAR_061101 p.Thr996Ala LB/B rs11137342 - CACNA1B Q00975 VAR_073432 p.Arg1389His US rs184841813 - CACNA1C Q13936 VAR_001495 p.Ala752Thr LB/B - - CACNA1C Q13936 VAR_001496 p.Ala2169Thr LB/B - - CACNA1C Q13936 VAR_026741 p.Gly402Ser LP/P - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_026742 p.Gly406Arg LP/P - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_044039 p.Ala39Val US - Brugada syndrome 3 (BRGDA3) [MIM:611875] CACNA1C Q13936 VAR_044040 p.Gly490Arg US - Brugada syndrome 3 (BRGDA3) [MIM:611875] CACNA1C Q13936 VAR_045987 p.Gln84Arg LB/B rs1051345 - CACNA1C Q13936 VAR_045988 p.Ile391Leu LB/B rs1051356 - CACNA1C Q13936 VAR_059223 p.Pro1868Leu LB/B rs10848683 - CACNA1C Q13936 VAR_059224 p.Met1869Val LB/B rs10774053 - CACNA1C Q13936 VAR_061102 p.Lys1893Arg LB/B rs10774054 - CACNA1C Q13936 VAR_064700 p.Ser878Arg US - - CACNA1C Q13936 VAR_072381 p.Ile1186Thr LP/P - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_072381 p.Ile1186Thr LP/P - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075148 p.Ala28Thr US - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075149 p.Gly37Arg LB/B - - CACNA1C Q13936 VAR_075150 p.Ile304Thr LB/B - - CACNA1C Q13936 VAR_075151 p.Pro381Ser US - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075152 p.Met456Ile US - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075153 p.Glu477Lys US - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075154 p.Arg518Cys LP/P - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075155 p.Arg518His LP/P - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075156 p.Ala582Asp LP/P - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075157 p.Pro817Ser LB/B - - CACNA1C Q13936 VAR_075158 p.Arg858His LP/P - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075159 p.Arg860Gly LP/P - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075160 p.Ile1186Val LP/P - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075161 p.Ala1365Thr US - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075162 p.Ile1523Met LP/P - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075163 p.Glu1544Lys LP/P - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075164 p.Val1755Ile LB/B - - CACNA1C Q13936 VAR_075165 p.Ala1765Gly LB/B - - CACNA1C Q13936 VAR_075166 p.Asp1787Asn US - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075167 p.Thr1800Ile US - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075168 p.Gly1831Cys US - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075169 p.Thr1835Met LB/B - - CACNA1C Q13936 VAR_075170 p.Gly1843Arg LB/B - - CACNA1C Q13936 VAR_075171 p.Glu1948Lys US - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075172 p.Thr1953Met US - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075173 p.Arg1972Cys LB/B - - CACNA1C Q13936 VAR_075174 p.Arg2056Gln LB/B rs112414325 - CACNA1C Q13936 VAR_075175 p.Thr2081Asn US rs771424529 Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075176 p.Val2097Ile US - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075177 p.Ala2122Gly US rs549476254 Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_075178 p.Asn2174Ser LB/B - - CACNA1C Q13936 VAR_076415 p.Ala2091Ser US - - CACNA1C Q13936 VAR_078701 p.Arg1159His US - - CACNA1C Q13936 VAR_082632 p.Lys834Glu US - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_082633 p.Pro857Leu LP/P - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_082634 p.Pro857Arg LP/P - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_082635 p.Arg1989Gln US - Long QT syndrome 8 (LQT8) [MIM:618447] CACNA1C Q13936 VAR_087755 p.Phe166Leu LP/P - Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) [MIM:620029] CACNA1C Q13936 VAR_087756 p.Lys177Arg LP/P - Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) [MIM:620029] CACNA1C Q13936 VAR_087757 p.Arg324Trp LP/P - Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) [MIM:620029] CACNA1C Q13936 VAR_087758 p.Val403Met LP/P - Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) [MIM:620029] CACNA1C Q13936 VAR_087760 p.Leu601Arg LP/P - Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) [MIM:620029] CACNA1C Q13936 VAR_087761 p.Met611Thr LP/P - Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) [MIM:620029] CACNA1C Q13936 VAR_087762 p.Leu614Pro LP/P - Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) [MIM:620029] CACNA1C Q13936 VAR_087763 p.Leu614Arg LP/P - Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) [MIM:620029] CACNA1C Q13936 VAR_087764 p.Ser643Phe LP/P - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_087765 p.Leu657Phe LP/P - Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) [MIM:620029] CACNA1C Q13936 VAR_087767 p.Glu1135Lys LP/P - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_087768 p.Val1187Ala LP/P - Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) [MIM:620029] CACNA1C Q13936 VAR_087769 p.Leu1408Val LP/P - Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) [MIM:620029] CACNA1C Q13936 VAR_087770 p.Val1411Leu LP/P - Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) [MIM:620029] CACNA1C Q13936 VAR_087771 p.Val1411Met LP/P - Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) [MIM:620029] CACNA1D Q01668 VAR_061103 p.Asp2097Asn LB/B rs41276455 - CACNA1D Q01668 VAR_070868 p.Gly403Asp LP/P - Primary aldosteronism, seizures, and neurologic abnormalities (PASNA) [MIM:615474] CACNA1D Q01668 VAR_070869 p.Ile750Met LP/P rs41276445 Primary aldosteronism, seizures, and neurologic abnormalities (PASNA) [MIM:615474] CACNA1D Q01668 VAR_079531 p.Val401Leu US - - CACNA1D Q01668 VAR_079532 p.Gly407Arg LB/B rs1163276899 - CACNA1D Q01668 VAR_079533 p.Ala749Gly US - - CACNA1E Q15878 VAR_031912 p.Asp859Glu LB/B rs35737760 - CACNA1E Q15878 VAR_046996 p.Ala1955Thr LB/B rs704326 - CACNA1E Q15878 VAR_081838 p.Leu228Pro LP/P rs1553286282 Developmental and epileptic encephalopathy 69 (DEE69) [MIM:618285] CACNA1E Q15878 VAR_081839 p.Gly348Arg LP/P - Developmental and epileptic encephalopathy 69 (DEE69) [MIM:618285] CACNA1E Q15878 VAR_081840 p.Gly352Arg LP/P rs886039323 Developmental and epileptic encephalopathy 69 (DEE69) [MIM:618285] CACNA1E Q15878 VAR_081841 p.Ile603Leu LP/P rs778291283 Developmental and epileptic encephalopathy 69 (DEE69) [MIM:618285] CACNA1E Q15878 VAR_081842 p.Gly690Asp LP/P rs1361083258 Developmental and epileptic encephalopathy 69 (DEE69) [MIM:618285] CACNA1E Q15878 VAR_081843 p.Phe698Ser LP/P rs869312920 Developmental and epileptic encephalopathy 69 (DEE69) [MIM:618285] CACNA1E Q15878 VAR_081844 p.Ala700Thr LP/P - Developmental and epileptic encephalopathy 69 (DEE69) [MIM:618285] CACNA1E Q15878 VAR_081845 p.Ile701Val LP/P rs1558308998 Developmental and epileptic encephalopathy 69 (DEE69) [MIM:618285] CACNA1E Q15878 VAR_081846 p.Ala702Pro LP/P rs12131800 Developmental and epileptic encephalopathy 69 (DEE69) [MIM:618285] CACNA1E Q15878 VAR_081847 p.Ala702Thr LP/P rs12131800 Developmental and epileptic encephalopathy 69 (DEE69) [MIM:618285] CACNA1E Q15878 VAR_081850 p.Ile1422Phe LP/P - Developmental and epileptic encephalopathy 69 (DEE69) [MIM:618285] CACNA1E Q15878 VAR_081851 p.Thr1425Asn LP/P - Developmental and epileptic encephalopathy 69 (DEE69) [MIM:618285] CACNA1E Q15878 VAR_081852 p.Gly1430Arg LP/P rs1553345844 Developmental and epileptic encephalopathy 69 (DEE69) [MIM:618285] CACNA1E Q15878 VAR_081853 p.Ala1720Gly LP/P - Developmental and epileptic encephalopathy 69 (DEE69) [MIM:618285] CACNA1F O60840 VAR_001504 p.Gly369Asp LP/P rs122456133 Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_001505 p.Arg519Gln LP/P rs34162630 Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_001506 p.Arg1060Trp LP/P - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_001507 p.Leu1375His LP/P - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_029376 p.Asn746Thr LB/B rs141159097 - CACNA1F O60840 VAR_030807 p.Pro14Leu LB/B rs6520408 - CACNA1F O60840 VAR_030808 p.Cys74Arg LP/P - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030809 p.Gly150Arg LP/P - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030810 p.Ser229Pro LP/P - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030811 p.Gly261Arg LP/P - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030812 p.Val635Ile US rs141010716 Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030813 p.Gly674Asp LP/P - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030814 p.Phe753Cys LP/P rs1602644716 Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030815 p.Ile756Thr LP/P rs122456136 Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030816 p.Leu860Pro LP/P - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030817 p.Ala928Asp LP/P - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030818 p.Gly1018Arg LP/P rs1249437161 Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030819 p.Leu1079Pro LP/P - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030820 p.Cys1499Arg LP/P - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030821 p.Pro1500Arg LP/P - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030822 p.Leu1508Pro LP/P rs2065644808 Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_031822 p.Ala1270Thr LB/B rs34308720 - CACNA1F O60840 VAR_054818 p.Arg1930His LB/B rs33910054 - CACNA1F O60840 VAR_055662 p.Ala1259Thr LB/B rs34308720 - CACNA1F O60840 VAR_071433 p.Gly603Arg LP/P rs201654095 Aaland island eye disease (AIED) [MIM:300600] CACNA1F O60840 VAR_071433 p.Gly603Arg LP/P rs201654095 Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1G O43497 VAR_076292 p.Arg1715His LP/P rs755221106 Spinocerebellar ataxia 42 (SCA42) [MIM:616795] CACNA1G O43497 VAR_081177 p.Ala961Thr LP/P rs886041505 Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (SCA42ND) [MIM:618087] CACNA1G O43497 VAR_081178 p.Met1531Val LP/P rs1555558553 Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (SCA42ND) [MIM:618087] CACNA1H O95180 VAR_033698 p.Glu1974Gly LB/B rs3751886 - CACNA1H O95180 VAR_045935 p.Phe161Leu US rs119454947 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045936 p.Glu282Lys US rs119454948 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045937 p.Met313Val LB/B rs36117280 - CACNA1H O95180 VAR_045938 p.Cys456Ser US - Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045939 p.Gly499Ser LP/P rs560915333 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045940 p.Pro640Leu LB/B rs61734410 - CACNA1H O95180 VAR_045941 p.Pro648Leu US rs1288484976 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045942 p.Val664Ala LB/B rs4984636 - CACNA1H O95180 VAR_045943 p.Pro684Ser LB/B rs762185083 - CACNA1H O95180 VAR_045944 p.Arg744Gln US rs373764821 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045945 p.Ala748Val US rs770371468 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045946 p.Gly773Asp US rs267606697 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045947 p.Gly784Ser US rs779526640 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045948 p.Arg788Cys LB/B rs3751664 - CACNA1H O95180 VAR_045949 p.Val812Met LB/B rs28365119 - CACNA1H O95180 VAR_045950 p.Val831Met US rs119454949 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045951 p.Gly848Ser US rs374272094 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045952 p.Asp1463Asn US rs542245543 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045953 p.Arg2060His LB/B rs1054644 - CACNA1H O95180 VAR_045954 p.Arg2077His LB/B rs1054645 - CACNA1H O95180 VAR_045955 p.Pro2173Ser LB/B rs200675829 - CACNA1H O95180 VAR_061104 p.Arg1871Gln LB/B rs58124832 - CACNA1H O95180 VAR_066986 p.Pro618Leu US rs60734921 Epilepsy, idiopathic generalized 6 (EIG6) [MIM:611942] CACNA1H O95180 VAR_066987 p.Gly755Asp US rs142306293 Epilepsy, idiopathic generalized 6 (EIG6) [MIM:611942] CACNA1H O95180 VAR_077064 p.Ser196Leu LP/P rs780596901 Hyperaldosteronism, familial, 4 (HALD4) [MIM:617027] CACNA1H O95180 VAR_077065 p.Met1549Ile LP/P - Hyperaldosteronism, familial, 4 (HALD4) [MIM:617027] CACNA1H O95180 VAR_077066 p.Met1549Val LP/P rs786205050 Hyperaldosteronism, familial, 4 (HALD4) [MIM:617027] CACNA1H O95180 VAR_077067 p.Val1951Glu US rs746967306 - CACNA1H O95180 VAR_077068 p.Pro2083Leu LP/P rs759924732 Hyperaldosteronism, familial, 4 (HALD4) [MIM:617027] CACNA1H O95180 VAR_078237 p.His516Tyr US rs1057519554 - CACNA1H O95180 VAR_078702 p.Ser1970Cys US rs1267377730 - CACNA1I Q9P0X4 VAR_013883 p.Ile1040Val LB/B rs136853 - CACNA1I Q9P0X4 VAR_013884 p.Gly1782Ala LB/B rs2294369 - CACNA1I Q9P0X4 VAR_020050 p.Gly1782Arg LB/B rs2294369 - CACNA1I Q9P0X4 VAR_048745 p.Thr1513Met LB/B rs8141262 - CACNA1I Q9P0X4 VAR_087825 p.Ile860Met LP/P - Neurodevelopmental disorder with speech impairment and with or without seizures (NEDSIS) [MIM:620114] CACNA1I Q9P0X4 VAR_087826 p.Ile860Asn LP/P - Neurodevelopmental disorder with speech impairment and with or without seizures (NEDSIS) [MIM:620114] CACNA1I Q9P0X4 VAR_087827 p.Ile1306Thr LP/P rs879255418 Neurodevelopmental disorder with speech impairment and with or without seizures (NEDSIS) [MIM:620114] CACNA1I Q9P0X4 VAR_087828 p.Met1425Ile LP/P - Neurodevelopmental disorder with speech impairment and with or without seizures (NEDSIS) [MIM:620114] CACNA1S Q13698 VAR_001498 p.Leu458His LB/B rs12742169 - CACNA1S Q13698 VAR_001499 p.Arg528His LP/P rs80338777 Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] CACNA1S Q13698 VAR_001500 p.Arg1086His LP/P rs1800559 Malignant hyperthermia 5 (MHS5) [MIM:601887] CACNA1S Q13698 VAR_001501 p.Arg1239Gly LP/P rs28930069 Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] CACNA1S Q13698 VAR_001502 p.Arg1239His LP/P rs28930068 Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] CACNA1S Q13698 VAR_001503 p.Arg1539Cys LB/B rs3850625 - CACNA1S Q13698 VAR_046970 p.Ala69Gly LB/B rs12406479 - CACNA1S Q13698 VAR_046971 p.Arg1658His LB/B rs13374149 - CACNA1S Q13698 VAR_046972 p.Leu1800Ser LB/B rs12139527 - CACNA1S Q13698 VAR_046973 p.Glu1840Asp LB/B rs1042379 - CACNA1S Q13698 VAR_054953 p.Arg528Gly LP/P rs80338778 Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] CACNA1S Q13698 VAR_054954 p.Arg900Ser LP/P - Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] CACNA1S Q13698 VAR_088226 p.Glu100Lys US - Congenital myopathy 18 (CMYP18) [MIM:620246] CACNA1S Q13698 VAR_088227 p.Met222Lys US - Congenital myopathy 18 (CMYP18) [MIM:620246] CACNA1S Q13698 VAR_088228 p.Phe275Leu LP/P - Congenital myopathy 18 (CMYP18) [MIM:620246] CACNA1S Q13698 VAR_088229 p.Pro742Gln LP/P - Congenital myopathy 18 (CMYP18) [MIM:620246] CACNA1S Q13698 VAR_088230 p.Pro742Ser LP/P - Congenital myopathy 18 (CMYP18) [MIM:620246] CACNA1S Q13698 VAR_088231 p.Arg789Cys US - Congenital myopathy 18 (CMYP18) [MIM:620246] CACNA1S Q13698 VAR_088232 p.Arg789His US rs1157720606 Congenital myopathy 18 (CMYP18) [MIM:620246] CACNA1S Q13698 VAR_088233 p.Leu1367Val US - Congenital myopathy 18 (CMYP18) [MIM:620246] CACNA2D1 P54289 VAR_035047 p.Asp1057Ala LB/B rs35131433 - CACNA2D1 P54289 VAR_053960 p.Glu1019Asp LB/B rs9886043 - CACNA2D1 P54289 VAR_087875 p.Gly209Asp LP/P - Developmental and epileptic encephalopathy 110 (DEE110) [MIM:620149] CACNA2D2 Q9NY47 VAR_035048 p.Ala138Val LB/B rs35497591 - CACNA2D2 Q9NY47 VAR_057782 p.Glu334Lys LB/B rs743855 - CACNA2D2 Q9NY47 VAR_083105 p.Pro261Leu US rs1211603072 Cerebellar atrophy with seizures and variable developmental delay (CASVDD) [MIM:618501] CACNA2D2 Q9NY47 VAR_083106 p.Leu1047Pro LP/P rs587776948 Cerebellar atrophy with seizures and variable developmental delay (CASVDD) [MIM:618501] CACNA2D2 Q9NY47 VAR_083107 p.Leu1053Pro US rs1575578837 Cerebellar atrophy with seizures and variable developmental delay (CASVDD) [MIM:618501] CACNA2D2 Q9NY47 VAR_085040 p.Tyr371Cys US - - CACNA2D4 Q7Z3S7 VAR_035049 p.Ile327Val LB/B rs10735005 - CACNA2D4 Q7Z3S7 VAR_035050 p.Arg863His LB/B rs36077411 - CACNA2D4 Q7Z3S7 VAR_035051 p.Thr869Met LB/B rs35331095 - CACNB1 Q02641 VAR_036349 p.Pro339Leu US rs1266205915 A colorectal cancer sample CACNB2 Q08289 VAR_036350 p.Ala99Gly US rs745502425 A colorectal cancer sample CACNB2 Q08289 VAR_044041 p.Ser535Leu US rs121917812 Brugada syndrome 4 (BRGDA4) [MIM:611876] CACNB3 P54284 VAR_024384 p.Arg423His LB/B rs2229954 - CACNB4 O00305 VAR_013669 p.Cys104Phe LP/P rs1805031 Episodic ataxia 5 (EA5) [MIM:613855] CACNG1 Q06432 VAR_012063 p.Gly196Ser LB/B rs1799938 - CACNG2 Q9Y698 VAR_066599 p.Val143Leu LP/P - Intellectual developmental disorder, autosomal dominant 10 (MRD10) [MIM:614256] CACNG6 Q9BXT2 VAR_061540 p.Cys252Ser LB/B rs12980121 - CAD P27708 VAR_035897 p.Arg177Gln US rs374122292 A colorectal cancer sample CAD P27708 VAR_035898 p.Tyr735Cys US - A colorectal cancer sample CAD P27708 VAR_073955 p.Arg2024Gln LP/P rs763410987 Developmental and epileptic encephalopathy 50 (DEE50) [MIM:616457] CAD P27708 VAR_078289 p.Met33Arg US rs751610198 Developmental and epileptic encephalopathy 50 (DEE50) [MIM:616457] CADM1 Q9BY67 VAR_061309 p.Asp285Glu LB/B rs45525440 - CADM3 Q8N126 VAR_059383 p.Arg162Trp LB/B rs3026987 - CADM3 Q8N126 VAR_086232 p.Tyr138Cys LP/P - Charcot-Marie-Tooth disease, axonal, 2FF (CMT2FF) [MIM:619519] CADM4 Q8NFZ8 VAR_032906 p.Thr225Ala LB/B rs34246023 - CADPS2 Q86UW7 VAR_024786 p.Ala298Thr LB/B rs17144625 - CAGE1 Q8TC20 VAR_031200 p.Thr169Ile LB/B rs10223538 - CAGE1 Q8TC20 VAR_031201 p.Glu282Ala LB/B rs2876098 - CALCA P01258 VAR_014592 p.Asp57Asn LB/B rs5239 - CALCA P01258 VAR_014593 p.Ser76Arg LB/B rs5241 - CALCA P01258 VAR_025271 p.Gly2Arg LB/B rs34587547 - CALCA P01258 VAR_025272 p.Glu67Lys LB/B rs34164367 - CALCA P01258 VAR_025273 p.Ser123Thr LB/B rs34414857 - CALCA P01258 VAR_025274 p.Gln138Pro LB/B rs13306224 - CALCA P06881 VAR_048584 p.Asp57Asn LB/B rs5239 - CALCOCO1 Q9P1Z2 VAR_036881 p.Arg393Lys LB/B rs3741659 - CALCOCO2 Q13137 VAR_037489 p.Gly140Glu LB/B rs550510 - CALCOCO2 Q13137 VAR_037490 p.Gly227Arg LB/B rs2303016 - CALCOCO2 Q13137 VAR_037491 p.Val248Ala LB/B rs2303015 - CALCOCO2 Q13137 VAR_037492 p.Thr273Ala LB/B rs17849804 - CALCOCO2 Q13137 VAR_037493 p.Pro389Ala LB/B rs10278 - CALCR P30988 VAR_003580 p.Leu447Pro LB/B rs1801197 - CALCRL Q16602 VAR_049453 p.Phe16Leu LB/B rs13391909 - CALCRL Q16602 VAR_049454 p.Arg274Ile LB/B rs34010553 - CALCRL Q16602 VAR_054822 p.Tyr8Asn LB/B rs698577 - CALD1 Q05682 VAR_065254 p.His397Arg LB/B rs6973420 - CALHM1 Q8IU99 VAR_023095 p.Leu86Pro LB/B rs2986017 - CALHM2 Q9HA72 VAR_033924 p.Val194Met LB/B rs2232662 - CALHM2 Q9HA72 VAR_053084 p.Val136Gly LB/B rs2232660 - CALHM6 Q5R3K3 VAR_053085 p.Gly80Arg LB/B rs1057192 - CALHM6 Q5R3K3 VAR_053086 p.Glu293Lys LB/B rs11544160 - CALHM6 Q5R3K3 VAR_071081 p.Thr100Ala LB/B rs10784 - CALM1 P0DP23 VAR_069222 p.Asn54Ile LP/P rs267607276 Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916] CALM1 P0DP23 VAR_073275 p.Phe90Leu LP/P rs730882253 Long QT syndrome 14 (LQT14) [MIM:616247] CALM1 P0DP23 VAR_073282 p.Phe142Leu LP/P rs1085307479 Long QT syndrome 14 (LQT14) [MIM:616247] CALM1 P0DP23 VAR_078263 p.Glu141Gly LP/P - Long QT syndrome 14 (LQT14) [MIM:616247] CALM1 P0DP23 VAR_078541 p.Asn98Ser LP/P rs267607277 Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916] CALM1 P0DP23 VAR_078542 p.Asp130Gly LP/P rs730882252 Long QT syndrome 14 (LQT14) [MIM:616247] CALM1 P0DP23 VAR_083814 p.Glu141Val LP/P - Long QT syndrome 14 (LQT14) [MIM:616247] CALM2 P0DP24 VAR_073276 p.Asp96Val LP/P rs730882254 Long QT syndrome 15 (LQT15) [MIM:616249] CALM2 P0DP24 VAR_073277 p.Asn98Ile LP/P rs398124647 Long QT syndrome 15 (LQT15) [MIM:616249] CALM2 P0DP24 VAR_073279 p.Asp132Glu LP/P rs398124648 Long QT syndrome 15 (LQT15) [MIM:616249] CALM2 P0DP24 VAR_073280 p.Asp134His LP/P rs398124650 Long QT syndrome 15 (LQT15) [MIM:616249] CALM2 P0DP24 VAR_073281 p.Gln136Pro LP/P rs398124649 Long QT syndrome 15 (LQT15) [MIM:616249] CALM2 P0DP24 VAR_078262 p.Asp130Val LP/P - Long QT syndrome 15 (LQT15) [MIM:616249] CALM2 P0DP24 VAR_078543 p.Asn98Ser LP/P rs398124647 Long QT syndrome 15 (LQT15) [MIM:616249] CALM2 P0DP24 VAR_078544 p.Asp130Gly LP/P rs1573214163 Long QT syndrome 15 (LQT15) [MIM:616249] CALM3 P0DP25 VAR_078261 p.Ala103Val LP/P - Ventricular tachycardia, catecholaminergic polymorphic, 6 (CPVT6) [MIM:618782] CALM3 P0DP25 VAR_083815 p.Asp130Gly LP/P - Long QT syndrome 16 (LQT16) [MIM:618782] CALM3 P0DP25 VAR_083816 p.Glu141Lys LP/P - Long QT syndrome 16 (LQT16) [MIM:618782] CALML4 Q96GE6 VAR_048586 p.Arg28Cys LB/B rs3803381 - CALML4 Q96GE6 VAR_048587 p.Thr154Lys LB/B rs2280217 - CALML5 Q9NZT1 VAR_047545 p.Ser58Gly LB/B rs11546426 - CALML5 Q9NZT1 VAR_047546 p.Lys74Arg LB/B rs10904516 - CALML6 Q8TD86 VAR_048588 p.Trp60Arg LB/B rs28581776 - CALR3 Q96L12 VAR_027944 p.Leu8Phe LB/B rs11544148 - CALR3 Q96L12 VAR_027945 p.Asp248Gly LB/B rs10411092 - CALR3 Q96L12 VAR_027946 p.Val274Ile LB/B rs12459238 - CALR3 Q96L12 VAR_048589 p.Asp284Asn LB/B rs10404156 - CALR3 Q96L12 VAR_065476 p.Lys82Arg US rs142951029 - CALU O43852 VAR_022051 p.Arg4Gln LB/B rs2290228 - CAMK1 Q14012 VAR_040596 p.Pro217Ser US rs907102077 A metastatic melanoma sample CAMK1 Q14012 VAR_040597 p.Glu361Lys LB/B rs56033923 - CAMK1D Q8IU85 VAR_040599 p.Ile66Met LB/B rs34194224 - CAMK1G Q96NX5 VAR_020530 p.Val329Ile LB/B rs11119315 - CAMK1G Q96NX5 VAR_040600 p.Glu259Gln LB/B rs35561962 - CAMK1G Q96NX5 VAR_040601 p.Ala443Thr US rs1228276529 A breast infiltrating ductal carcinoma sample CAMK2A Q9UQM7 VAR_080579 p.Phe98Ser LP/P rs1554122526 Intellectual developmental disorder, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080580 p.Glu109Asp LP/P - Intellectual developmental disorder, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080581 p.Ala112Val US - Intellectual developmental disorder, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080582 p.Pro138Ala US - Intellectual developmental disorder, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080583 p.Glu183Val LP/P rs1554122129 Intellectual developmental disorder, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080584 p.Pro212Leu US rs926027867 Intellectual developmental disorder, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080585 p.Pro235Leu US rs864309606 Intellectual developmental disorder, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080586 p.His282Arg LP/P rs1554121875 Intellectual developmental disorder, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080587 p.Thr286Pro LP/P rs1554121872 Intellectual developmental disorder, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_081160 p.Pro212Gln LP/P - Intellectual developmental disorder, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_081161 p.His466Tyr LP/P rs1554119274 Intellectual developmental disorder, autosomal recessive 63 (MRT63) [MIM:618095] CAMK2B Q13554 VAR_045581 p.Pro489Leu US rs555460132 A colorectal adenocarcinoma sample CAMK2B Q13554 VAR_045582 p.Glu510Lys LB/B rs35452727 - CAMK2B Q13554 VAR_080589 p.Glu110Lys LP/P rs1554402092 Intellectual developmental disorder, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B Q13554 VAR_080590 p.Pro139Leu LP/P rs1554389088 Intellectual developmental disorder, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B Q13554 VAR_080591 p.Glu237Lys LP/P rs1554386687 Intellectual developmental disorder, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B Q13554 VAR_080592 p.Lys301Glu LP/P rs1554385111 Intellectual developmental disorder, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B Q13554 VAR_081162 p.Pro213Leu LP/P rs1554387293 Intellectual developmental disorder, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B Q13554 VAR_081163 p.Arg284Ser LP/P rs1554385203 Intellectual developmental disorder, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2D Q13557 VAR_028196 p.Gln463Glu LB/B rs1053668 - CAMK2D Q13557 VAR_040602 p.Asp167Glu LB/B rs35367671 - CAMK2D Q13557 VAR_040603 p.Thr493Ile LB/B rs35765784 - CAMK2G Q13555 VAR_042430 p.Ser36Pro LB/B rs17853266 - CAMK2G Q13555 VAR_069390 p.Arg292Pro LP/P rs397514627 Intellectual developmental disorder, autosomal dominant 59 (MRD59) [MIM:618522] CAMK4 Q16566 VAR_040604 p.Glu150Gly US - A lung adenocarcinoma sample CAMK4 Q16566 VAR_040605 p.Asp178Asn LB/B rs35548075 - CAMK4 Q16566 VAR_040606 p.Gln465Arg LB/B rs56360861 - CAMK4 Q16566 VAR_040607 p.Ile469Met US rs1239950009 A lung large cell carcinoma sample CAMKK1 Q8N5S9 VAR_020531 p.Glu375Gly LB/B rs7214723 - CAMKK2 Q96RR4 VAR_020532 p.Thr85Ser LB/B rs3817190 - CAMKK2 Q96RR4 VAR_020533 p.Arg363Cys LB/B rs1132780 - CAMKK2 Q96RR4 VAR_032788 p.Ser10Asn LB/B rs28360477 - CAMKK2 Q96RR4 VAR_040610 p.Cys123Tyr LB/B rs35403710 - CAMKK2 Q96RR4 VAR_040611 p.Pro127Leu US - A lung neuroendocrine carcinoma sample CAMKK2 Q96RR4 VAR_040612 p.Ala182Thr US rs1207121718 A colorectal adenocarcinoma sample CAMKK2 Q96RR4 VAR_040613 p.Arg492His LB/B rs34129994 - CAMKV Q8NCB2 VAR_027539 p.Tyr491Cys LB/B rs17849325 - CAMKV Q8NCB2 VAR_041337 p.Arg40Trp US rs1407808379 A colorectal adenocarcinoma sample CAMKV Q8NCB2 VAR_041338 p.Gly60Ser US - An ovarian serous carcinoma sample CAMKV Q8NCB2 VAR_041339 p.Arg274Trp US - A colorectal adenocarcinoma sample CAMKV Q8NCB2 VAR_041340 p.Glu279Asp LB/B rs56071455 - CAMKV Q8NCB2 VAR_041341 p.Pro472Leu LB/B rs56307047 - CAMLG P49069 VAR_024297 p.Val78Ile LB/B rs12657663 - CAMLG P49069 VAR_050710 p.Gly100Ser LB/B rs11552197 - CAMSAP1 Q5T5Y3 VAR_038398 p.Ala476Val LB/B rs35639321 - CAMSAP2 Q08AD1 VAR_038399 p.Ile361Leu US - A colorectal cancer sample CAMSAP2 Q08AD1 VAR_038400 p.Pro958Leu LB/B rs3753952 - CAMSAP2 Q08AD1 VAR_038401 p.Arg1028Pro LB/B rs6674599 - CAMSAP2 Q08AD1 VAR_057796 p.Pro969Leu LB/B rs3753952 - CAMSAP2 Q08AD1 VAR_057797 p.Pro1039Arg LB/B rs6674599 - CAMSAP3 Q9P1Y5 VAR_053991 p.Pro335Ser LB/B rs3745358 - CAMTA1 Q9Y6Y1 VAR_047824 p.Asn1177Lys LB/B rs41278952 - CAMTA1 Q9Y6Y1 VAR_047825 p.Asn1218Thr LB/B rs41278954 - CAMTA1 Q9Y6Y1 VAR_047826 p.Thr1336Ile LB/B rs137974312 - CAMTA1 Q9Y6Y1 VAR_085043 p.Ser1473Thr US rs776553769 - CAMTA2 O94983 VAR_026417 p.Ala267Pro LB/B rs238234 - CAMTA2 O94983 VAR_026418 p.Ser903Pro LB/B rs16942615 - CAND1 Q86VP6 VAR_025327 p.Ala952Val LB/B rs17854618 - CAND1 Q86VP6 VAR_054041 p.Val803Ala LB/B rs12580996 - CAND2 O75155 VAR_055023 p.Gln408Arg LB/B rs2305398 - CAND2 O75155 VAR_055024 p.Pro476Leu LB/B rs2305397 - CAND2 O75155 VAR_055025 p.Ser533Pro LB/B rs3732675 - CAND2 O75155 VAR_055026 p.His655Arg LB/B rs9838943 - CAND2 O75155 VAR_055027 p.Leu845Phe LB/B rs17037287 - CAND2 O75155 VAR_055028 p.His858Pro LB/B rs3732678 - CAND2 O75155 VAR_055029 p.Val990Ile LB/B rs3817121 - CAND2 O75155 VAR_055030 p.Ala1225Thr LB/B rs12629133 - CANT1 Q8WVQ1 VAR_062980 p.Pro299Leu LP/P rs267606700 Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_062981 p.Arg300Cys LP/P rs267606701 Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_062982 p.Arg300His LP/P rs267606699 Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068655 p.Asp112Glu LP/P rs749246739 Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068656 p.Trp125Cys LP/P rs587776898 Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068657 p.Met165Thr LP/P - Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068658 p.Leu224Pro LP/P rs150181226 Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068659 p.Val226Met LP/P rs377546036 Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068659 p.Val226Met LP/P rs377546036 Epiphyseal dysplasia, multiple, 7 (EDM7) [MIM:617719] CANT1 Q8WVQ1 VAR_068660 p.Ser303Arg LP/P - Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068661 p.Ala323Thr LB/B rs9903215 - CANT1 Q8WVQ1 VAR_068662 p.Ala360Asp LP/P rs387907081 Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068663 p.Ile374Asn LP/P - Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068664 p.Gly391Glu LB/B rs34082669 - CANT1 Q8WVQ1 VAR_080400 p.Ile171Phe US rs1014317450 Epiphyseal dysplasia, multiple, 7 (EDM7) [MIM:617719] CAP1 Q01518 VAR_028419 p.Cys229Gly LB/B rs11207440 - CAP1 Q01518 VAR_028420 p.Cys236Gly LB/B rs6665926 - CAP1 Q01518 VAR_028421 p.Ile245Ser LB/B rs6665933 - CAP1 Q01518 VAR_028422 p.Cys247Gly LB/B rs6665936 - CAP1 Q01518 VAR_028423 p.Tyr249Asp LB/B rs6665937 - CAP1 Q01518 VAR_028424 p.Ser256Ala LB/B rs6665944 - CAP2 P40123 VAR_033717 p.Thr311Ala LB/B rs34620829 - CAP2 P40123 VAR_033718 p.Tyr316Cys LB/B rs34206659 - CAPG P40121 VAR_047776 p.Val41Ile LB/B rs2229668 - CAPG P40121 VAR_047777 p.Arg198Trp LB/B rs11539103 - CAPG P40121 VAR_047778 p.His335Arg LB/B rs6886 - CAPN1 P07384 VAR_021085 p.Thr103Ala LB/B rs17885718 - CAPN1 P07384 VAR_021086 p.Arg433Pro LB/B rs10895991 - CAPN1 P07384 VAR_021087 p.Gly492Arg LB/B rs17883283 - CAPN1 P07384 VAR_021088 p.Val676Ile LB/B rs17884773 - CAPN1 P07384 VAR_077899 p.Arg295Pro LP/P rs756205995 Spastic paraplegia 76, autosomal recessive (SPG76) [MIM:616907] CAPN10 Q9HC96 VAR_014437 p.Pro200Thr LB/B rs3792268 - CAPN10 Q9HC96 VAR_014438 p.Arg202His LB/B rs768407925 - CAPN10 Q9HC96 VAR_014439 p.Ala341Val LB/B rs776848131 - CAPN10 Q9HC96 VAR_014440 p.Thr504Ala LB/B rs7607759 - CAPN10 Q9HC96 VAR_014441 p.Ala529Ser LB/B - - CAPN10 Q9HC96 VAR_014442 p.Ser613Asn LB/B rs146148004 - CAPN10 Q9HC96 VAR_014443 p.Ile666Val LB/B rs2975766 - CAPN10 Q9HC96 VAR_036049 p.Glu276Gly US - A colorectal cancer sample CAPN11 Q9UMQ6 VAR_024587 p.Ser728Asn LB/B rs7761137 - CAPN11 Q9UMQ6 VAR_033713 p.Val266Met LB/B rs6938938 - CAPN11 Q9UMQ6 VAR_033714 p.Val441Ala LB/B rs16871612 - CAPN11 Q9UMQ6 VAR_033715 p.Ile521Val LB/B rs34710081 - CAPN11 Q9UMQ6 VAR_033716 p.Ser544Arg LB/B rs35527493 - CAPN12 Q6ZSI9 VAR_051516 p.Cys287Arg LB/B rs12983010 - CAPN13 Q6MZZ7 VAR_028964 p.His249Tyr LB/B rs17010210 - CAPN13 Q6MZZ7 VAR_028965 p.Ala280Thr LB/B rs508405 - CAPN13 Q6MZZ7 VAR_028966 p.Ile596Thr LB/B rs2276568 - CAPN15 O75808 VAR_085921 p.Ser613Leu US rs374949685 Oculogastrointestinal neurodevelopmental syndrome (OGIN) [MIM:619318] CAPN15 O75808 VAR_085922 p.Ser720Phe US - Oculogastrointestinal neurodevelopmental syndrome (OGIN) [MIM:619318] CAPN15 O75808 VAR_085923 p.Arg800Trp US rs762523863 Oculogastrointestinal neurodevelopmental syndrome (OGIN) [MIM:619318] CAPN15 O75808 VAR_085924 p.Gly969Ser US - Oculogastrointestinal neurodevelopmental syndrome (OGIN) [MIM:619318] CAPN15 O75808 VAR_085925 p.Arg1028Lys US - Oculogastrointestinal neurodevelopmental syndrome (OGIN) [MIM:619318] CAPN2 P17655 VAR_014435 p.Asp22Glu LB/B rs25655 - CAPN2 P17655 VAR_014436 p.Lys568Gln LB/B rs17599 - CAPN2 P17655 VAR_021404 p.Ser68Gly LB/B rs2230083 - CAPN2 P17655 VAR_021405 p.Lys476Arg LB/B rs9804140 - CAPN2 P17655 VAR_021406 p.Glu521Gln LB/B rs28370127 - CAPN2 P17655 VAR_021407 p.Lys677Gln LB/B rs2230082 - CAPN3 P20807 VAR_001363 p.Leu182Gln LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_001365 p.Gly234Glu LP/P rs1555420634 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_001366 p.Val354Gly LP/P rs1555421271 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_001367 p.Arg490Trp LP/P rs141656719 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_001368 p.Arg572Gln LP/P rs121434544 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_001369 p.Ser744Gly LP/P rs750083132 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_001370 p.Arg769Gln LP/P rs80338802 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009548 p.Val4Ile LP/P rs140660066 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009549 p.Pro26Leu LP/P rs762020512 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009550 p.Asp77Asn LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009551 p.Ser86Phe LP/P rs121434546 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009553 p.Glu107Lys LB/B rs1801505 - CAPN3 P20807 VAR_009554 p.Arg118Gly LP/P rs1566973583 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009555 p.Cys137Arg LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009556 p.Ile162Leu LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009557 p.Pro183Leu LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009558 p.Thr184Met LB/B rs35889956 - CAPN3 P20807 VAR_009559 p.Leu189Pro LP/P rs758795961 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009560 p.Gly214Ser LP/P rs369784333 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009561 p.Ser215Pro LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009563 p.Glu217Lys LP/P rs773001194 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009564 p.Gly222Arg LP/P rs1345121557 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009565 p.Glu226Lys LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009566 p.Thr232Ile LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009567 p.Ala236Thr LB/B rs1801449 - CAPN3 P20807 VAR_009569 p.Pro319Leu LP/P rs121434547 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009570 p.His334Gln LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009571 p.Tyr336Asn LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009572 p.Trp360Cys LP/P rs267606703 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009573 p.Arg437Cys LP/P rs777483913 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009574 p.Arg440Trp LP/P rs777323132 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009575 p.Gly441Asp LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009576 p.Gly445Arg LP/P rs773827877 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009577 p.Arg448Cys LP/P rs776043976 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009578 p.Arg448Gly LP/P rs776043976 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009579 p.Arg448His LP/P rs863224956 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009580 p.Ser479Gly LP/P rs201736037 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009581 p.Gln486Glu LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009582 p.Arg489Gln LP/P rs147764579 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009583 p.Arg489Trp LP/P rs863224957 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009584 p.Arg490Gln LP/P rs121434548 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009585 p.Arg493Trp LP/P rs557164942 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009586 p.Gly496Arg LP/P rs761637940 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009587 p.Ile502Thr LP/P rs148044781 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009588 p.Arg541Gln LP/P rs398123143 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009589 p.Gly567Trp LP/P rs727503839 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009590 p.Arg572Trp LP/P rs863224959 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009591 p.Ser606Leu LP/P rs199806879 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009592 p.Gln638Pro LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009593 p.Arg698Pro LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009594 p.Ala702Val LP/P rs886042557 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009595 p.Asp705Gly LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009596 p.Asp705His LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009597 p.Phe731Ser LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009598 p.Arg748Gln LP/P rs587780290 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009599 p.His774Asp US - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009600 p.Ala798Glu US rs149095128 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_015389 p.Ala160Gly LB/B rs17592 - CAPN3 P20807 VAR_022272 p.Gly21Glu LB/B rs28364364 - CAPN3 P20807 VAR_047691 p.Glu622Ala LB/B rs11557723 - CAPN5 O15484 VAR_069277 p.Arg243Leu LP/P rs397514601 Vitreoretinopathy, neovascular inflammatory (VRNI) [MIM:193235] CAPN5 O15484 VAR_069278 p.Leu244Pro LP/P rs397514602 Vitreoretinopathy, neovascular inflammatory (VRNI) [MIM:193235] CAPN6 Q9Y6Q1 VAR_021084 p.Val277Leu LB/B rs12013711 - CAPN6 Q9Y6Q1 VAR_036048 p.Gly358Arg US - A colorectal cancer sample CAPN6 Q9Y6Q1 VAR_051515 p.Thr518Ile LB/B rs12851517 - CAPN9 O14815 VAR_022188 p.Ala102Val LB/B rs12562749 - CAPN9 O14815 VAR_022189 p.Ser122Arg LB/B rs28359608 - CAPN9 O14815 VAR_022190 p.Asp164Asn LB/B rs28359632 - CAPN9 O14815 VAR_022191 p.Ile234Thr LB/B rs28359644 - CAPN9 O14815 VAR_022192 p.Ala239Thr LB/B rs28359647 - CAPN9 O14815 VAR_022193 p.Arg277Trp LB/B rs28359655 - CAPN9 O14815 VAR_022194 p.Lys322Gln LB/B rs1933631 - CAPN9 O14815 VAR_022195 p.His327Gln LB/B rs28359684 - CAPN9 O14815 VAR_022196 p.Glu342Lys LB/B rs16852652 - CAPN9 O14815 VAR_022197 p.Arg458Trp LB/B rs28359688 - CAPN9 O14815 VAR_022198 p.Arg522Trp LB/B rs12731961 - CAPN9 O14815 VAR_022199 p.Met611Ile LB/B rs16852683 - CAPNS1 P04632 VAR_021089 p.Met224Val LB/B rs17878750 - CAPRIN1 Q14444 VAR_042425 p.Ala263Asp LB/B rs1132973 - CAPRIN1 Q14444 VAR_042426 p.Gln588His LB/B rs12282627 - CAPRIN1 Q14444 VAR_042427 p.Arg616His LB/B rs11552285 - CAPRIN2 Q6IMN6 VAR_034939 p.Met519Val LB/B rs2304630 - CAPRIN2 Q6IMN6 VAR_048445 p.Pro114Ser LB/B rs17688567 - CAPRIN2 Q6IMN6 VAR_048446 p.Lys237Arg LB/B rs12146709 - CAPRIN2 Q6IMN6 VAR_048447 p.Ser655Leu LB/B rs2304628 - CAPS Q13938 VAR_048638 p.Arg125Gly LB/B rs7249419 - CAPS Q13938 VAR_080772 p.Arg180Gln US rs375700493 - CAPS2 Q9BXY5 VAR_061085 p.Leu106Phe LB/B rs10879901 - CAPSL Q8WWF8 VAR_029631 p.Arg85Gln LB/B rs1445898 - CAPSL Q8WWF8 VAR_029632 p.Met201Val LB/B rs1345826 - CAPZA1 P52907 VAR_073834 p.Ser219Leu LB/B rs555597264 - CARD10 Q9BWT7 VAR_028116 p.Arg289Gln LB/B rs9610775 - CARD10 Q9BWT7 VAR_086467 p.Arg420Cys US - Immunodeficiency 89 and autoimmunity (IMD89) [MIM:619632] CARD11 Q9BXL7 VAR_028117 p.Thr670Met LB/B rs3735134 - CARD11 Q9BXL7 VAR_028118 p.Ser694Leu LB/B rs3735133 - CARD11 Q9BXL7 VAR_069710 p.Gly123Ser LP/P rs387907352 B-cell expansion with NFKB and T-cell anergy (BENTA) [MIM:616452] CARD11 Q9BXL7 VAR_069711 p.Glu134Gly LP/P rs387907351 B-cell expansion with NFKB and T-cell anergy (BENTA) [MIM:616452] CARD11 Q9BXL7 VAR_079284 p.Glu57Asp LP/P - Immunodeficiency 11B with atopic dermatitis (IMD11B) [MIM:617638] CARD11 Q9BXL7 VAR_079285 p.Leu194Pro LP/P - Immunodeficiency 11B with atopic dermatitis (IMD11B) [MIM:617638] CARD11 Q9BXL7 VAR_079286 p.Arg975Trp LP/P rs1064795307 Immunodeficiency 11B with atopic dermatitis (IMD11B) [MIM:617638] CARD14 Q9BXL6 VAR_022043 p.Arg883His LB/B rs2289541 - CARD14 Q9BXL6 VAR_024401 p.Arg547Ser LB/B rs2066964 - CARD14 Q9BXL6 VAR_048608 p.Val585Ile LB/B rs34367357 - CARD14 Q9BXL6 VAR_059196 p.Arg820Trp LB/B rs11652075 - CARD14 Q9BXL6 VAR_061080 p.Arg962Gln LB/B rs34850974 - CARD14 Q9BXL6 VAR_068222 p.Arg38Cys LB/B rs281875217 - CARD14 Q9BXL6 VAR_068223 p.Arg62Gln LB/B rs115582620 - CARD14 Q9BXL6 VAR_068224 p.Gly117Ser LP/P rs281875215 Pityriasis rubra pilaris (PRP) [MIM:173200] CARD14 Q9BXL6 VAR_068224 p.Gly117Ser LP/P rs281875215 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_068225 p.Glu138Ala LP/P rs281875214 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_068226 p.Glu142Gly LP/P rs281875213 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_068227 p.Glu142Lys LP/P rs281875212 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_068228 p.Leu150Arg LP/P rs146214639 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_068229 p.His171Asn LB/B rs281875216 - CARD14 Q9BXL6 VAR_068230 p.Asp176His LB/B rs144475004 - CARD14 Q9BXL6 VAR_068231 p.Arg179His LB/B rs199517469 - CARD14 Q9BXL6 VAR_068232 p.Val191Leu LB/B rs281875218 - CARD14 Q9BXL6 VAR_068233 p.Ser200Asn LB/B rs114688446 - CARD14 Q9BXL6 VAR_068234 p.Asp285Gly LB/B rs281875219 - CARD14 Q9BXL6 VAR_068235 p.Ile593Asn LB/B rs281875220 - CARD14 Q9BXL6 VAR_068236 p.Arg682Trp LB/B rs117918077 - CARD14 Q9BXL6 VAR_068237 p.Gly714Ser LB/B rs151150961 - CARD14 Q9BXL6 VAR_068238 p.Asp973Glu LB/B rs144285237 - CARD14 Q9BXL6 VAR_068820 p.Leu156Pro LP/P rs387907240 Pityriasis rubra pilaris (PRP) [MIM:173200] CARD14 Q9BXL6 VAR_078583 p.Arg69Trp LP/P rs375624435 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_078584 p.Cys127Ser LP/P - Pityriasis rubra pilaris (PRP) [MIM:173200] CARD14 Q9BXL6 VAR_078585 p.Gln136Leu LP/P - Pityriasis rubra pilaris (PRP) [MIM:173200] CARD14 Q9BXL6 VAR_078586 p.Arg151Gln US rs200731780 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_078587 p.Arg151Trp US rs777305616 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_078588 p.Glu197Lys LP/P rs200790561 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_078589 p.Leu209Pro US - Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_078590 p.Ala216Thr US rs574982768 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_078591 p.Arg218Cys LB/B rs747854314 - CARD14 Q9BXL6 VAR_078592 p.Met338Val LB/B rs200132496 - CARD14 Q9BXL6 VAR_078593 p.Leu350Pro LB/B rs1412261979 - CARD14 Q9BXL6 VAR_078594 p.Leu357Pro LB/B - - CARD14 Q9BXL6 VAR_078595 p.Thr420Ala US rs762364495 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_078596 p.Ser602Leu US rs201285077 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_078597 p.Ala639Gly US - Psoriasis 2 (PSORS2) [MIM:602723] CARD16 Q5EG05 VAR_046279 p.Arg33Ser LB/B rs35966314 - CARD16 Q5EG05 VAR_046280 p.Gln37Lys LB/B rs1042744 - CARD16 Q5EG05 VAR_046281 p.Ala56Asp LB/B rs34534919 - CARD16 Q5EG05 VAR_046282 p.Asn167Ile LB/B rs542571 - CARD6 Q9BX69 VAR_046689 p.Ser86Leu LB/B rs10512747 - CARD6 Q9BX69 VAR_046690 p.Arg93Lys LB/B rs7715491 - CARD6 Q9BX69 VAR_046691 p.Met395Lys LB/B rs3812030 - CARD6 Q9BX69 VAR_046692 p.Asp426Val LB/B rs3812031 - CARD6 Q9BX69 VAR_046693 p.Ala575Asp LB/B rs36085996 - CARD6 Q9BX69 VAR_046694 p.Ile576Val LB/B rs323562 - CARD8 Q9Y2G2 VAR_048606 p.Ile173Val LB/B rs11881179 - CARD8 Q9Y2G2 VAR_061079 p.Glu204Ala LB/B rs59878320 - CARD8 Q9Y2G2 VAR_084560 p.Val44Ile US - Inflammatory bowel disease 30 (IBD30) [MIM:619079] CARD8 Q9Y2G2 VAR_084561 p.Phe102Ile LP/P rs2043211 Inflammatory bowel disease 30 (IBD30) [MIM:619079] CARD9 Q9H257 VAR_048607 p.Ser12Asn LB/B rs4077515 - CARD9 Q9H257 VAR_070828 p.Gly72Ser LP/P rs398122362 Immunodeficiency 103, susceptibility to fungal infections (IMD103) [MIM:212050] CARD9 Q9H257 VAR_070829 p.Arg101Cys LP/P rs398122364 Immunodeficiency 103, susceptibility to fungal infections (IMD103) [MIM:212050] CARD9 Q9H257 VAR_070830 p.Arg373Pro LP/P rs149712114 Immunodeficiency 103, susceptibility to fungal infections (IMD103) [MIM:212050] CARD9 Q9H257 VAR_084630 p.Arg18Trp LP/P - Immunodeficiency 103, susceptibility to fungal infections (IMD103) [MIM:212050] CARD9 Q9H257 VAR_084632 p.Arg35Gln LP/P rs1454037218 Immunodeficiency 103, susceptibility to fungal infections (IMD103) [MIM:212050] CARD9 Q9H257 VAR_084633 p.Arg57His LP/P rs940550122 Immunodeficiency 103, susceptibility to fungal infections (IMD103) [MIM:212050] CARD9 Q9H257 VAR_084634 p.Arg70Trp LP/P rs767522068 Immunodeficiency 103, susceptibility to fungal infections (IMD103) [MIM:212050] CARD9 Q9H257 VAR_084635 p.Tyr91His LP/P rs921151054 Immunodeficiency 103, susceptibility to fungal infections (IMD103) [MIM:212050] CARD9 Q9H257 VAR_084636 p.Arg101Leu LP/P - Immunodeficiency 103, susceptibility to fungal infections (IMD103) [MIM:212050] CARD9 Q9H257 VAR_084638 p.Lys196Glu LP/P rs768281299 Immunodeficiency 103, susceptibility to fungal infections (IMD103) [MIM:212050] CARD9 Q9H257 VAR_084642 p.Ala380Pro LP/P - Immunodeficiency 103, susceptibility to fungal infections (IMD103) [MIM:212050] CARMIL1 Q5VZK9 VAR_039923 p.Val77Ile LB/B rs9358856 - CARMIL1 Q5VZK9 VAR_039924 p.Pro545Leu LB/B rs12207840 - CARMIL1 Q5VZK9 VAR_039925 p.Ala639Gly LB/B rs7454756 - CARMIL1 Q5VZK9 VAR_039926 p.Asn1117Ser LB/B rs9885914 - CARMIL2 Q6F5E8 VAR_081149 p.Arg50Thr LP/P rs1567626023 Immunodeficiency 58 (IMD58) [MIM:618131] CARMIL2 Q6F5E8 VAR_081150 p.Leu372Arg LP/P rs1567628757 Immunodeficiency 58 (IMD58) [MIM:618131] CARMIL2 Q6F5E8 VAR_081151 p.Leu525Gln LP/P rs1567629943 Immunodeficiency 58 (IMD58) [MIM:618131] CARMIL2 Q6F5E8 VAR_081152 p.Leu639His LP/P rs775061512 Immunodeficiency 58 (IMD58) [MIM:618131] CARMIL3 Q8ND23 VAR_039845 p.Leu1022Met LB/B rs10146906 - CARNS1 A5YM72 VAR_042625 p.Pro14Thr LB/B rs868167 - CARNS1 A5YM72 VAR_060320 p.Met498Leu LB/B rs17853668 - CARS1 P49589 VAR_084305 p.Arg341His LP/P - Microcephaly, developmental delay, and brittle hair syndrome (MDBH) [MIM:618891] CARS1 P49589 VAR_084306 p.Ser359Leu LP/P - Microcephaly, developmental delay, and brittle hair syndrome (MDBH) [MIM:618891] CARS1 P49589 VAR_084308 p.Leu400Gln LP/P - Microcephaly, developmental delay, and brittle hair syndrome (MDBH) [MIM:618891] CARS2 Q9HA77 VAR_034523 p.Glu440Lys LB/B rs965189 - CARS2 Q9HA77 VAR_034524 p.Gln555Pro LB/B rs1043886 - CARS2 Q9HA77 VAR_075669 p.Pro251Leu LP/P rs557671802 Combined oxidative phosphorylation deficiency 27 (COXPD27) [MIM:616672] CARTPT Q16568 VAR_012199 p.Leu61Phe LB/B rs121909065 - CARTPT Q16568 VAR_012200 p.Ser66Thr LB/B rs78242624 - CARTPT Q16568 VAR_053022 p.Leu113Met LB/B rs12517689 - CASC2 Q6XLA1 VAR_039469 p.Pro8Ser US - Some patients with endometrial cancer CASD1 Q96PB1 VAR_035383 p.Arg386Ser LB/B rs17855797 - CASK O14936 VAR_041956 p.Gly96Val US - A lung large cell carcinoma sample CASK O14936 VAR_058719 p.Arg28Leu LP/P rs137852816 FG syndrome 4 (FGS4) [MIM:300422] CASK O14936 VAR_062996 p.Tyr268His LP/P rs137852817 Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] CASK O14936 VAR_062997 p.Pro396Ser LP/P rs137852820 Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] CASK O14936 VAR_062998 p.Asp710Gly LP/P rs137852818 Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] CASKIN2 Q8WXE0 VAR_060244 p.Glu891Gly LB/B rs7503373 - CASP1 P29466 VAR_048615 p.Arg15His LB/B rs1042743 - CASP10 Q92851 VAR_014071 p.Leu285Phe LP/P rs17860403 Autoimmune lymphoproliferative syndrome 2A (ALPS2A) [MIM:603909] CASP10 Q92851 VAR_014072 p.Val410Ile LB/B rs13010627 - CASP10 Q92851 VAR_037428 p.Met147Thr LP/P rs121909776 Gastric cancer (GASC) [MIM:613659] CASP10 Q92851 VAR_037429 p.Ile406Leu LB/B rs80358239 - CASP10 Q92851 VAR_037430 p.Ala414Val LP/P rs28936699 Familial non-Hodgkin lymphoma (NHL) [MIM:605027] CASP10 Q92851 VAR_037431 p.Tyr446Cys LB/B rs17860405 - CASP10 Q92851 VAR_055361 p.Ser239Cys LB/B rs41473647 - CASP10 Q92851 VAR_055362 p.Pro444Ser LB/B rs41513147 - CASP10 Q92851 VAR_065233 p.Lys14Thr US - - CASP10 Q92851 VAR_065234 p.Arg21Cys LB/B rs559979934 - CASP10 Q92851 VAR_065235 p.Leu285Pro US - - CASP12 Q6UXS9 VAR_080638 p.Ile68Thr LB/B rs693001 - CASP12 Q6UXS9 VAR_080640 p.Ser238Gly LB/B rs647039 - CASP2 P42575 VAR_016334 p.Val172Leu LB/B rs4647297 - CASP2 P42575 VAR_016335 p.Pro178Ala LB/B rs4647298 - CASP2 P42575 VAR_016336 p.Arg441Gly LB/B rs4647338 - CASP2 P42575 VAR_055621 p.Ala105Gly LB/B rs762263774 - CASP3 P42574 VAR_001401 p.Glu190Asp LB/B rs1049210 - CASP3 P42574 VAR_048616 p.His22Arg LB/B rs35578277 - CASP4 P49662 VAR_061081 p.Asp47Asn LB/B rs56226603 - CASP4 P49662 VAR_061082 p.Glu284Asp LB/B rs55901059 - CASP4 P49662 VAR_075654 p.Arg134Cys LB/B rs181090259 - CASP5 P51878 VAR_024403 p.Phe29Leu LB/B rs3181320 - CASP5 P51878 VAR_024404 p.Arg168His LB/B rs3181179 - CASP5 P51878 VAR_024405 p.Val217Leu LB/B rs3181326 - CASP5 P51878 VAR_047216 p.Lys19Asn LB/B rs45483102 - CASP5 P51878 VAR_047217 p.Leu26Trp LB/B rs1792778 - CASP5 P51878 VAR_047218 p.Thr106Ala LB/B rs507879 - CASP5 P51878 VAR_047219 p.Leu334Val LB/B rs523104 - CASP5 P51878 VAR_047220 p.Glu353Lys LB/B rs45619739 - CASP5 P51878 VAR_054480 p.Leu75Arg LB/B rs45585331 - CASP5 P51878 VAR_054481 p.Arg298His LB/B rs45464699 - CASP5 P51878 VAR_054482 p.Glu382Gln LB/B rs45458695 - CASP6 P55212 VAR_016130 p.Ala109Thr LB/B rs5030674 - CASP6 P55212 VAR_020126 p.Thr182Ser LB/B rs5030593 - CASP6 P55212 VAR_029242 p.Glu35Lys LB/B rs11574697 - CASP7 P55210 VAR_048617 p.Asp4Glu LB/B rs11555408 - CASP7 P55210 VAR_048618 p.Asp255Glu LB/B rs2227310 - CASP8 Q14790 VAR_014204 p.Arg248Trp LP/P rs17860424 Caspase-8 deficiency (CASP8D) [MIM:607271] CASP8 Q14790 VAR_020127 p.Asp285His LB/B rs1045485 - CASP8 Q14790 VAR_025816 p.Ser219Thr LB/B rs35976359 - CASP8AP2 Q9UKL3 VAR_050700 p.Pro1659Ser LB/B rs3799896 - CASP9 P55211 VAR_015415 p.Ala28Val LB/B rs1052571 - CASP9 P55211 VAR_015416 p.Ser99Leu LB/B rs4646008 - CASP9 P55211 VAR_015417 p.Thr102Ile LB/B rs2308941 - CASP9 P55211 VAR_015418 p.Leu106Val LB/B rs2308938 - CASP9 P55211 VAR_015419 p.Glu114Asp LB/B rs2020897 - CASP9 P55211 VAR_015420 p.Arg173His LB/B rs2308950 - CASP9 P55211 VAR_015421 p.Gln221Arg LB/B rs1052576 - CASP9 P55211 VAR_016131 p.Gly176Arg LB/B rs2308949 - CASP9 P55211 VAR_016132 p.Arg192Cys LB/B rs2308939 - CASP9 P55211 VAR_022053 p.Ile185Met LB/B rs9282624 - CASP9 P55211 VAR_059198 p.Phe136Leu LB/B rs1132312 - CASQ1 P31415 VAR_053021 p.Tyr140Phe LB/B rs34489853 - CASQ1 P31415 VAR_073337 p.Asp244Gly LP/P rs730882052 Myopathy, vacuolar, with CASQ1 aggregates (VMCQA) [MIM:616231] CASQ1 P31415 VAR_079704 p.Asp44Asn LP/P rs140253806 Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565] CASQ1 P31415 VAR_079705 p.Gly103Asp LP/P - Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565] CASQ1 P31415 VAR_079706 p.Ile385Thr LP/P rs371278891 Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565] CASQ2 O14958 VAR_016075 p.Asp307His LP/P rs121434549 Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938] CASQ2 O14958 VAR_023692 p.Thr66Ala LB/B rs4074536 - CASQ2 O14958 VAR_023693 p.Val76Met LB/B rs10801999 - CASQ2 O14958 VAR_044118 p.Leu167His LP/P rs121434550 Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938] CASQ2 O14958 VAR_055234 p.Arg33Gln LP/P rs749547712 Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938] CASQ2 O14958 VAR_067036 p.His244Arg LB/B rs28730716 - CASQ2 O14958 VAR_067037 p.Asn335Lys LB/B rs28730712 - CASQ2 O14958 VAR_076546 p.Lys180Arg LP/P rs886039816 Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938] CASR P41180 VAR_003585 p.Pro39Ala LP/P rs121909262 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003586 p.Arg62Met LP/P rs121909265 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003587 p.Arg66Cys LP/P rs121909266 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003588 p.Ala116Thr LP/P rs104893691 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_003589 p.Glu127Ala LP/P rs121909260 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_003590 p.Thr138Met LP/P rs121909263 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003591 p.Gly143Glu LP/P rs121909264 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003592 p.Leu174Arg LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003593 p.Arg185Gln LP/P rs104893689 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003594 p.Arg227Leu LP/P rs28936684 Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] CASR P41180 VAR_003595 p.Arg227Gln LP/P rs28936684 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003596 p.Glu297Lys LP/P rs121909259 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003597 p.Cys582Tyr LP/P rs104893690 Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] CASR P41180 VAR_003597 p.Cys582Tyr LP/P rs104893690 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003598 p.Gln681His LP/P rs121909261 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_003599 p.Arg795Trp LP/P rs121909258 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003600 p.Phe806Ser LP/P rs104893693 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_003601 p.Cys851Ser LB/B rs200777304 - CASR P41180 VAR_012649 p.Gly557Glu LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_014450 p.Ala986Ser LB/B rs1801725 - CASR P41180 VAR_014451 p.Glu1011Gln LB/B rs1801726 - CASR P41180 VAR_015414 p.Leu616Val LP/P rs104893703 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_020220 p.Pro951Thr LB/B rs4987051 - CASR P41180 VAR_020221 p.Arg990Gly LB/B rs1042636 - CASR P41180 VAR_021019 p.Glu767Lys LP/P - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058046 p.Leu11Ser LP/P rs200673016 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058047 p.Leu13Pro LP/P rs104893717 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058048 p.Thr14Ala LB/B rs199515839 - CASR P41180 VAR_058049 p.Gly21Arg LP/P rs1064794290 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058050 p.Lys47Asn LP/P rs104893702 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058051 p.Asn118Lys LP/P rs104893695 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058052 p.Leu125Pro LP/P rs104893708 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058053 p.Phe128Leu LP/P rs104893696 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058054 p.Cys131Trp LP/P rs121909267 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058055 p.Thr151Met LP/P rs104893694 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058056 p.Ser171Asn LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058057 p.Phe180Cys LP/P rs121909268 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058058 p.Glu191Lys LP/P rs104893697 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058059 p.Pro221Gln LP/P rs397514728 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058060 p.Lys225Thr LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058061 p.Glu250Lys LB/B rs62269092 - CASR P41180 VAR_058062 p.Ser271Phe LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058063 p.Gly397Arg LP/P rs1064794291 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058064 p.Arg465Gln LP/P rs104893716 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058065 p.Gly509Arg LP/P rs193922423 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058066 p.Gly553Arg LP/P rs104893719 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058067 p.Ile555Val LP/P rs777646067 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058068 p.Cys562Tyr LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058069 p.Cys582Phe LP/P rs104893690 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058070 p.Glu604Lys LP/P rs104893712 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058071 p.Phe612Ser LP/P rs104893698 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058072 p.Gly623Asp LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058073 p.Gly670Glu LP/P rs104893700 Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] CASR P41180 VAR_058074 p.Gly670Arg LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058075 p.Leu727Gln LP/P rs104893718 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058076 p.Val728Phe LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058077 p.Trp742Arg LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058078 p.Leu773Arg LP/P rs104893699 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058079 p.Phe788Cys LP/P rs104893701 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058080 p.Phe788Leu LP/P rs886041537 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058081 p.Ser820Phe LP/P rs104893710 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058082 p.Ala843Glu LP/P rs104893706 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058083 p.Phe881Leu LB/B rs104893704 - CASR P41180 VAR_058084 p.Arg886Trp LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_060206 p.Glu354Ala LP/P - Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899] CASR P41180 VAR_060207 p.Ile686Val LP/P rs753013993 Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899] CASR P41180 VAR_060208 p.Arg898Gln LP/P rs121909269 Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899] CASR P41180 VAR_060209 p.Ala988Gly LP/P - Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899] CASR P41180 VAR_060210 p.Ala988Val LP/P rs759027000 Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899] CASR P41180 VAR_065198 p.Gln27Arg US - - CASR P41180 VAR_065199 p.Thr100Ile LP/P - Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] CASR P41180 VAR_065201 p.Pro339Thr US - - CASR P41180 VAR_065202 p.Leu650Pro LP/P - Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] CASR P41180 VAR_065203 p.Val689Met LP/P - Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] CASR P41180 VAR_065494 p.Val697Met LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078139 p.Phe42Ser LP/P rs1553765909 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078140 p.Ser53Pro LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078141 p.Pro55Leu LP/P rs886041154 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078142 p.Arg66His LP/P rs1276839362 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078143 p.Ile81Met LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078144 p.Ala110Thr LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078145 p.Ser122Cys LP/P - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078146 p.Leu125Phe LP/P - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078147 p.Cys129Arg LP/P - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078148 p.Pro136Leu LP/P - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078149 p.Gly143Arg LP/P rs769256610 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078150 p.Gly158Arg LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078151 p.Leu159Pro LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078152 p.Ser166Gly LP/P rs193922441 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078153 p.Arg172Gly LP/P rs201851934 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078154 p.Asn178Asp LP/P rs1060502855 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078155 p.Asp215Gly LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078156 p.Arg220Trp LP/P rs1482119762 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078157 p.Pro221Leu LP/P rs397514728 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078158 p.Pro221Ser LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078159 p.Glu228Lys LP/P - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078160 p.Gln459Arg LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078161 p.Gly549Arg LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078162 p.Thr550Ile LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078163 p.Arg551Lys LP/P rs1060502861 Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] CASR P41180 VAR_078164 p.Cys565Gly LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078165 p.Pro569His LP/P - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078166 p.Gly571Trp LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078168 p.Ser657Tyr LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078169 p.Cys661Tyr LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078170 p.Arg680His LP/P rs773146939 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078171 p.Gln681Arg LP/P - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078172 p.Glu707Val LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078173 p.Pro748Arg LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078175 p.Gly774Ser LP/P - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078176 p.Asn802Ile LP/P - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078177 p.Asn802Ser LP/P rs140022350 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078178 p.Val817Ile LP/P rs1057518933 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078179 p.Gly830Ser LP/P - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078180 p.Phe832Leu LP/P - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078181 p.Phe832Ser LP/P - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078182 p.Ile839Thr LP/P - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078183 p.Thr972Met LP/P rs200620134 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASS4 Q9NQ75 VAR_054084 p.Arg491Lys LB/B rs16979936 - CASS4 Q9NQ75 VAR_054085 p.Thr629Asn LB/B rs6069755 - CASS4 Q9NQ75 VAR_054086 p.Pro660Ser LB/B rs35031530 - CASS4 Q9NQ75 VAR_054087 p.Gln780His LB/B rs7272702 - CAST P20810 VAR_005298 p.Glu592Gly LB/B - - CAST P20810 VAR_022686 p.Cys408Ser LB/B rs754615 - CAST P20810 VAR_030741 p.Glu380Lys LB/B rs1643702 - CAST P20810 VAR_030742 p.Ala537Val LB/B rs4948 - CASZ1 Q86V15 VAR_077466 p.Leu38Pro US - - CATIP Q7Z7H3 VAR_085385 p.Phe35Ile LP/P rs141560868 Spermatogenic failure 54 (SPGF54) [MIM:619379] CATSPER1 Q8NEC5 VAR_033304 p.Gly133Ser LB/B rs1203998 - CATSPER1 Q8NEC5 VAR_033305 p.Val652Ile LB/B rs3814747 - CATSPER1 Q8NEC5 VAR_033306 p.Thr730Pro LB/B rs34958219 - CATSPER2 Q96P56 VAR_033307 p.Glu8Gly LB/B rs2614835 - CATSPER2 Q96P56 VAR_033308 p.Val57Ile LB/B rs8042868 - CATSPER3 Q86XQ3 VAR_033309 p.Asn204Lys LB/B rs3896260 - CATSPER4 Q7RTX7 VAR_033310 p.Gln77Arg LB/B rs11247866 - CATSPER4 Q7RTX7 VAR_033311 p.Leu124Phe LB/B rs12138368 - CATSPER4 Q7RTX7 VAR_033312 p.Ile293Val LB/B rs17257155 - CATSPER4 Q7RTX7 VAR_033313 p.Asp436Asn LB/B rs6657616 - CATSPERB Q9H7T0 VAR_061634 p.Phe318Tyr LB/B rs57706558 - CATSPERD Q86XM0 VAR_032270 p.Thr504Ala LB/B rs17854252 - CATSPERD Q86XM0 VAR_032271 p.Thr743Ser LB/B rs2305925 - CATSPERD Q86XM0 VAR_061714 p.Met212Thr LB/B rs57680462 - CATSPERE Q5SY80 VAR_027661 p.Thr66Lys LB/B rs11586356 - CATSPERE Q5SY80 VAR_035494 p.Thr653Ile US - A breast cancer sample CATSPERE Q5SY80 VAR_061566 p.Thr56Ser LB/B rs58602830 - CATSPERG Q6ZRH7 VAR_059631 p.Leu29Pro LB/B rs2302182 - CATSPERG Q6ZRH7 VAR_059632 p.Ser650Arg LB/B rs3745953 - CATSPERG Q6ZRH7 VAR_059633 p.Met1137Thr LB/B rs2286550 - CATSPERZ Q9NTU4 VAR_046370 p.Pro68Leu LB/B rs2286614 - CAV1 Q03135 VAR_015103 p.Pro132Leu US rs1213469537 Breast cancer CAV2 P51636 VAR_012071 p.Gln130Glu LB/B rs8940 - CAV3 P56539 VAR_001403 p.Pro105Leu LP/P rs116840805 Rippling muscle disease 2 (RMD2) [MIM:606072] CAV3 P56539 VAR_010742 p.Val57Met LP/P rs116840795 HyperCKmia (HYPCK) [MIM:123320] CAV3 P56539 VAR_010743 p.Cys72Trp LB/B rs116840776 - CAV3 P56539 VAR_011512 p.Arg27Gln LP/P rs116840778 HyperCKmia (HYPCK) [MIM:123320] CAV3 P56539 VAR_011512 p.Arg27Gln LP/P rs116840778 Myopathy, distal, Tateyama type (MPDT) [MIM:614321] CAV3 P56539 VAR_011512 p.Arg27Gln LP/P rs116840778 Rippling muscle disease 2 (RMD2) [MIM:606072] CAV3 P56539 VAR_011513 p.Ala46Thr LP/P rs116840789 Rippling muscle disease 2 (RMD2) [MIM:606072] CAV3 P56539 VAR_011514 p.Ala46Val LP/P rs116840773 Rippling muscle disease 2 (RMD2) [MIM:606072] CAV3 P56539 VAR_015374 p.Asp28Glu LP/P rs116840782 Rippling muscle disease 2 (RMD2) [MIM:606072] CAV3 P56539 VAR_016207 p.Leu87Pro LP/P rs28936685 Rippling muscle disease 2 (RMD2) [MIM:606072] CAV3 P56539 VAR_016208 p.Ala93Thr LP/P rs28936686 Rippling muscle disease 2 (RMD2) [MIM:606072] CAV3 P56539 VAR_021016 p.Asn33Lys LP/P rs1008642 Myopathy, distal, Tateyama type (MPDT) [MIM:614321] CAV3 P56539 VAR_021016 p.Asn33Lys LP/P rs1008642 Rippling muscle disease 2 (RMD2) [MIM:606072] CAV3 P56539 VAR_021017 p.Val44Glu LP/P rs116840788 Rippling muscle disease 2 (RMD2) [MIM:606072] CAV3 P56539 VAR_021018 p.Thr64Pro LP/P rs199476332 Rippling muscle disease 2 (RMD2) [MIM:606072] CAV3 P56539 VAR_026696 p.Ser61Arg LB/B rs116840796 - CAV3 P56539 VAR_029540 p.Pro29Leu LP/P rs116840786 HyperCKmia (HYPCK) [MIM:123320] CAV3 P56539 VAR_029541 p.Ser53Gly LP/P rs116840794 Rippling muscle disease 2 (RMD2) [MIM:606072] CAV3 P56539 VAR_029542 p.Gly56Ser LB/B rs72546667 - CAV3 P56539 VAR_029543 p.Thr64Ser LP/P rs121909280 Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600] CAV3 P56539 VAR_029545 p.Arg126His LB/B rs116840777 - CAV3 P56539 VAR_043694 p.Val14Leu LP/P rs121909281 Sudden infant death syndrome (SIDS) [MIM:272120] CAV3 P56539 VAR_043695 p.Thr78Met LP/P rs72546668 Long QT syndrome 9 (LQT9) [MIM:611818] CAV3 P56539 VAR_043695 p.Thr78Met LP/P rs72546668 Sudden infant death syndrome (SIDS) [MIM:272120] CAV3 P56539 VAR_043696 p.Leu79Arg LP/P rs121909282 Long QT syndrome 9 (LQT9) [MIM:611818] CAV3 P56539 VAR_043696 p.Leu79Arg LP/P rs121909282 Sudden infant death syndrome (SIDS) [MIM:272120] CAV3 P56539 VAR_043697 p.Ala85Thr LP/P rs104893715 Long QT syndrome 9 (LQT9) [MIM:611818] CAV3 P56539 VAR_043698 p.Phe97Cys LP/P rs104893714 Long QT syndrome 9 (LQT9) [MIM:611818] CAV3 P56539 VAR_043699 p.Ser141Arg LP/P rs104893713 Long QT syndrome 9 (LQT9) [MIM:611818] CAVIN1 Q6NZI2 VAR_034416 p.Glu193Gln LB/B rs35308568 - CAVIN1 Q6NZI2 VAR_035982 p.Pro14Thr US - A breast cancer sample CAVIN2 O95810 VAR_034422 p.Glu130Asp LB/B rs35012125 - CAVIN3 Q969G5 VAR_042851 p.Arg8Pro LB/B rs2682123 - CAVIN3 Q969G5 VAR_042852 p.Ala104Thr LB/B rs10839551 - CAVIN3 Q969G5 VAR_042853 p.Leu158Pro LB/B rs1051992 - CAVIN3 Q969G5 VAR_042854 p.Leu255Phe LB/B rs12294600 - CBFA2T3 O75081 VAR_035374 p.Glu429Gly LB/B rs1053526 - CBFA2T3 O75081 VAR_035447 p.Arg306His US rs745972870 A colorectal cancer sample CBFA2T3 O75081 VAR_035448 p.Glu518Lys US rs774310781 A colorectal cancer sample CBFA2T3 O75081 VAR_035449 p.Ala534Val US rs553618592 A colorectal cancer sample CBFB Q13951 VAR_036226 p.Pro100Ala US rs1280921900 A breast cancer sample CBL P22681 VAR_057211 p.Leu620Phe LB/B rs2227988 - CBL P22681 VAR_057212 p.Pro782Leu LB/B rs2229073 - CBL P22681 VAR_057213 p.Val904Ile LB/B rs17122769 - CBL P22681 VAR_064332 p.Gln367Pro LP/P rs267606704 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] CBL P22681 VAR_064333 p.Lys382Glu LP/P rs267606705 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] CBL P22681 VAR_064334 p.Asp390Tyr LP/P rs267606707 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] CBL P22681 VAR_064335 p.Arg420Gln LP/P rs267606708 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] CBL P22681 VAR_071040 p.Lys287Arg US - - CBL P22681 VAR_071042 p.Tyr371His US rs267606706 - CBL P22681 VAR_071043 p.Arg499Leu US - - CBLB Q13191 VAR_025303 p.Arg584Lys LB/B rs17853100 - CBLB Q13191 VAR_039241 p.Asn883Asp LB/B rs35835913 - CBLB Q13191 VAR_088738 p.His257Leu LP/P - Autoimmune disease, multisystem, infantile-onset, 3 (ADMIO3) [MIM:620430] CBLB Q13191 VAR_088739 p.Cys436Trp US - Autoimmune disease, multisystem, infantile-onset, 3 (ADMIO3) [MIM:620430] CBLC Q9ULV8 VAR_018298 p.His405Tyr LB/B rs3208856 - CBLIF P27352 VAR_022742 p.Gln23Arg LB/B rs35211634 - CBLIF P27352 VAR_022743 p.Ser46Leu LP/P rs121434322 Hereditary intrinsic factor deficiency (IFD) [MIM:261000] CBLIF P27352 VAR_022744 p.Asn255Ser LB/B rs35867471 - CBLIF P27352 VAR_048753 p.Gly65Arg LB/B rs11825834 - CBLL2 Q8N7E2 VAR_030340 p.Asp166Glu LB/B rs5951426 - CBLL2 Q8N7E2 VAR_030341 p.Ser287Phe LB/B rs12860105 - CBR1 P16152 VAR_031706 p.Pro131Ser LB/B rs41557318 - CBR1 P16152 VAR_059053 p.Val88Ile LB/B rs1143663 - CBR3 O75828 VAR_033868 p.Cys4Tyr LB/B rs8133052 - CBR3 O75828 VAR_033869 p.Leu84Val LB/B rs9282628 - CBR3 O75828 VAR_033870 p.Val93Ile LB/B rs2835285 - CBR3 O75828 VAR_033871 p.Pro131Ser LB/B rs16993929 - CBR3 O75828 VAR_033872 p.Met235Leu LB/B rs4987121 - CBR3 O75828 VAR_033873 p.Val244Met LB/B rs1056892 - CBR4 Q8N4T8 VAR_039049 p.Leu70Met LB/B rs2877380 - CBS P35520 VAR_002171 p.Pro78Arg LP/P rs786204608 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002172 p.Pro88Ser LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002173 p.Lys102Asn LP/P rs786204609 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002174 p.Ala114Val LP/P rs121964964 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002175 p.Arg125Gln LP/P rs781444670 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002176 p.Glu131Asp LP/P rs1555875351 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002177 p.Glu144Lys LP/P rs121964966 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002178 p.Pro145Leu LP/P rs121964963 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002179 p.Cys165Tyr LP/P rs1347651454 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002180 p.Val168Met LP/P rs121964970 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002181 p.Arg224His LP/P rs761647392 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002182 p.Glu239Lys LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002183 p.Thr257Met LP/P rs758236584 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002184 p.Ile278Thr LP/P rs5742905 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002185 p.Pro290Leu LP/P rs760912339 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002186 p.Gly307Ser LP/P rs121964962 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002187 p.Ala331Val LP/P rs777919630 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002188 p.Arg336Cys LP/P rs398123151 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002189 p.Arg369His LP/P rs11700812 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002190 p.Val371Met LP/P rs372010465 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002191 p.Lys384Glu LP/P rs121964967 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002192 p.Asp444Asn LP/P rs28934891 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002193 p.Val454Glu LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002194 p.Leu539Ser LP/P rs121964968 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008049 p.Pro49Leu LP/P rs148865119 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008050 p.Arg58Trp LP/P rs555959266 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008051 p.Gly85Arg LP/P rs863223435 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008052 p.Lys102Gln LB/B rs34040148 - CBS P35520 VAR_008053 p.Gly116Arg LP/P rs760214620 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008054 p.Arg121Cys LP/P rs775992753 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008055 p.Arg121His LP/P rs770095972 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008056 p.Arg121Leu LP/P rs770095972 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008057 p.Arg125Trp LP/P rs886057100 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008058 p.Met126Val LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008059 p.Glu128Asp LP/P rs374593242 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008060 p.Gly139Arg LP/P rs121964965 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008061 p.Gly148Arg LP/P rs755952006 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008062 p.Gly151Arg LP/P rs373782713 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008064 p.Ile152Met LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008065 p.Ala155Thr LP/P rs1429138569 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008066 p.Glu176Lys LP/P rs762065361 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008067 p.Val180Ala LP/P rs1555875010 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008068 p.Thr191Met LP/P rs121964973 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008069 p.Asp198Val LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008070 p.Ala226Thr LP/P rs763835246 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008071 p.Asp234Asn LP/P rs773734233 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008072 p.Thr262Met LP/P rs149119723 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008073 p.Arg266Gly LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008074 p.Arg266Lys LP/P rs121964969 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008076 p.Glu302Lys LP/P rs779270933 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008077 p.Gly305Arg LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008078 p.Val320Ala LP/P rs781567152 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008079 p.Ala331Glu LP/P rs777919630 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008080 p.Arg336His LP/P rs760417941 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008081 p.Ser352Asn LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008082 p.Thr353Met LP/P rs121964972 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008083 p.Val354Met LP/P rs267606146 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008084 p.Arg369Cys LP/P rs117687681 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008085 p.Cys370Tyr LP/P rs757920190 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008086 p.Lys384Asn LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008087 p.Met391Ile LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008088 p.Thr434Asn LP/P rs1555872506 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008089 p.Ile435Thr LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008090 p.Arg439Gln LP/P rs756467921 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008091 p.Ser466Leu LP/P rs121964971 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008092 p.Arg491Cys LP/P rs1339830457 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008093 p.Val534Asp LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021790 p.His65Arg LP/P rs1191141364 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021791 p.Leu101Pro LP/P rs786204757 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021792 p.Cys109Arg LP/P rs778220779 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021793 p.Ile143Met LP/P rs370167302 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021794 p.Asn228Lys LP/P rs1464223176 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021795 p.Thr262Arg LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021796 p.Cys275Tyr LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021797 p.Leu338Pro LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021798 p.Gly347Ser LP/P rs771298943 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021799 p.Ser349Asn LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021800 p.Ala355Pro LP/P rs1192581453 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021801 p.Arg379Gln LP/P rs763036586 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021802 p.Pro422Leu LP/P rs28934892 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021803 p.Leu456Pro LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046921 p.Arg18Cys LB/B rs201827340 - CBS P35520 VAR_046922 p.Ala69Pro LB/B rs17849313 - CBS P35520 VAR_046923 p.Arg125Pro LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046924 p.Leu154Gln LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046925 p.Ala155Val LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046926 p.Val168Ala LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046927 p.Met173Val LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046928 p.Asn228Ser LP/P rs1555874803 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046929 p.Ala231Pro LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046932 p.Ala288Pro LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046933 p.Ala288Thr LP/P rs141502207 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046934 p.Ala361Thr LP/P rs745764562 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046935 p.Asp376Asn LP/P rs1170128038 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046936 p.Arg379Trp LP/P rs769080151 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046937 p.Gln526Lys LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046938 p.Arg548Gln LB/B rs150828989 - CBS P35520 VAR_066099 p.Pro200Leu LP/P rs758712880 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_066100 p.Ile278Ser LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_066101 p.Asp281Asn LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_066102 p.Asp321Val LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_066103 p.Ala446Ser LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_074590 p.Thr87Asn LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_074592 p.Pro427Leu LP/P rs863223434 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_074593 p.Val449Gly LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_074594 p.Ser500Leu LP/P rs755106884 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_074595 p.Leu540Gln LP/P - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBX2 Q14781 VAR_063751 p.Pro98Leu LP/P rs121908255 46,XY sex reversal 5 (SRXY5) [MIM:613080] CBX2 Q14781 VAR_063752 p.Arg443Pro LP/P rs121908256 46,XY sex reversal 5 (SRXY5) [MIM:613080] CBX8 Q9HC52 VAR_014954 p.Gly317Val LB/B rs4889891 - CBY2 Q8NA61 VAR_054064 p.Lys329Glu LB/B rs7317245 - CC2D1A Q6P1N0 VAR_026670 p.Thr339Pro LB/B rs11883041 - CC2D1A Q6P1N0 VAR_026671 p.Thr635Ser LB/B rs2290663 - CC2D1A Q6P1N0 VAR_026672 p.Thr801Met LB/B rs2305777 - CC2D1B Q5T0F9 VAR_062191 p.Met35Thr LB/B rs11555349 - CC2D2A Q9P2K1 VAR_038489 p.Glu376Ala LB/B rs16892095 - CC2D2A Q9P2K1 VAR_038490 p.Val660Ile LB/B rs16892134 - CC2D2A Q9P2K1 VAR_055321 p.Gln1096His LP/P rs863225169 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_055322 p.Pro1122Ser LP/P rs118204051 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_055323 p.Arg1528Cys LP/P rs118204052 COACH syndrome 2 (COACH2) [MIM:619111] CC2D2A Q9P2K1 VAR_055323 p.Arg1528Cys LP/P rs118204052 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_055324 p.Leu1551Pro LP/P rs763425007 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_062293 p.Thr1114Met LP/P rs386833752 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_062293 p.Thr1114Met LP/P rs386833752 Meckel syndrome 6 (MKS6) [MIM:612284] CC2D2A Q9P2K1 VAR_062804 p.Pro721Ser LP/P rs199768782 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_062805 p.Lys800Glu LB/B rs751256652 - CC2D2A Q9P2K1 VAR_062806 p.Asp1556Val LP/P rs201502401 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_063804 p.Thr1116Met LP/P rs267606709 COACH syndrome 2 (COACH2) [MIM:619111] CC2D2A Q9P2K1 VAR_063804 p.Thr1116Met LP/P rs267606709 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_067535 p.Glu1447Ala LP/P rs387907058 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_068169 p.Glu1126Lys LP/P rs1473532901 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_069045 p.Asn1520Ser LP/P rs1478902342 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_069046 p.Tyr1568His LP/P - Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_075698 p.Trp1182Arg LP/P rs386833755 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_076881 p.Ser117Arg US rs186264635 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_076882 p.Lys507Glu LP/P rs144439937 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_076883 p.Leu559Pro LP/P rs754221308 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_076884 p.Leu684Ile LB/B rs190698163 - CC2D2A Q9P2K1 VAR_076885 p.Leu701Val LB/B rs537906621 - CC2D2A Q9P2K1 VAR_076886 p.Val1045Ala LP/P rs863225173 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_076887 p.Val1151Ala LP/P rs863225170 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_076888 p.Arg1284Cys LP/P rs779823379 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_076889 p.Arg1284His LP/P rs754586025 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_076890 p.Arg1330Gln US rs763486732 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_076891 p.Val1430Ala LP/P rs863225168 Joubert syndrome 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_077560 p.Thr1517Ser US rs780673487 Meckel syndrome 6 (MKS6) [MIM:612284] CC2D2A Q9P2K1 VAR_087118 p.Arg925Pro LP/P rs200707391 Retinitis pigmentosa 93 (RP93) [MIM:619845] CC2D2A Q9P2K1 VAR_087303 p.Gly1363Val US - Meckel syndrome 6 (MKS6) [MIM:612284] CC2D2A Q9P2K1 VAR_087304 p.Trp1519Gly US - Meckel syndrome 6 (MKS6) [MIM:612284] CC2D2B Q6DHV5 VAR_050697 p.Asn1100Asp LB/B rs17383738 - CC2D2B Q6DHV5 VAR_050698 p.Tyr1273His LB/B rs9943393 - CC2D2B Q6DHV5 VAR_050699 p.Gln1437Leu LB/B rs1336459 - CCAR1 Q8IX12 VAR_035497 p.Glu607Lys US - A colorectal cancer sample CCAR1 Q8IX12 VAR_058330 p.Thr588Ile LB/B rs1782338 - CCAR1 Q8IX12 VAR_058331 p.Glu681Gly LB/B rs1060145 - CCAR1 Q8IX12 VAR_058332 p.Met747Val LB/B rs11542602 - CCBE1 Q6UXH8 VAR_048971 p.Val193Gly LB/B rs11659589 - CCBE1 Q6UXH8 VAR_063746 p.Cys75Ser LP/P rs121908250 Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) [MIM:235510] CCBE1 Q6UXH8 VAR_063747 p.Cys102Ser LP/P rs121908251 Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) [MIM:235510] CCBE1 Q6UXH8 VAR_063748 p.Arg158Cys LP/P rs121908253 Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) [MIM:235510] CCBE1 Q6UXH8 VAR_063749 p.Cys174Arg LP/P rs121908254 Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) [MIM:235510] CCBE1 Q6UXH8 VAR_063750 p.Gly327Arg LP/P rs121908252 Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) [MIM:235510] CCDC102B Q68D86 VAR_022893 p.Cys346Phe LB/B rs745894 - CCDC102B Q68D86 VAR_022894 p.Ala429Pro LB/B rs9963788 - CCDC102B Q68D86 VAR_047331 p.Lys153Asn LB/B rs572020 - CCDC102B Q68D86 VAR_047332 p.Lys298Arg LB/B rs2187094 - CCDC102B Q68D86 VAR_047333 p.Glu370Gly LB/B rs34102373 - CCDC102B Q68D86 VAR_047334 p.Asn425Lys LB/B rs17080065 - CCDC103 Q8IW40 VAR_068449 p.His154Pro US rs145457535 Ciliary dyskinesia, primary, 17 (CILD17) [MIM:614679] CCDC107 Q8WV48 VAR_031406 p.Ser190Phe LB/B rs2275420 - CCDC107 Q8WV48 VAR_031407 p.Ile220Val LB/B rs1339374 - CCDC107 Q8WV48 VAR_031408 p.Ser242Cys LB/B rs10441685 - CCDC110 Q8TBZ0 VAR_050729 p.Pro209Gln LB/B rs7699687 - CCDC110 Q8TBZ0 VAR_050730 p.Leu299Met LB/B rs7698680 - CCDC110 Q8TBZ0 VAR_050731 p.Leu382Met LB/B rs9999097 - CCDC110 Q8TBZ0 VAR_050732 p.Ser409Phe LB/B rs11132306 - CCDC110 Q8TBZ0 VAR_050733 p.Ile614Met LB/B rs35596415 - CCDC110 Q8TBZ0 VAR_050734 p.Gln669Arg LB/B rs6827370 - CCDC110 Q8TBZ0 VAR_050735 p.Ser817Leu LB/B rs9683564 - CCDC110 Q8TBZ0 VAR_050736 p.Leu819Met LB/B rs34800518 - CCDC110 Q8TBZ0 VAR_061577 p.Tyr500Asp LB/B rs59319722 - CCDC112 Q8NEF3 VAR_039147 p.His32Leu LB/B rs34457718 - CCDC112 Q8NEF3 VAR_039148 p.Ser144Asn LB/B rs34056787 - CCDC112 Q8NEF3 VAR_039149 p.Lys341Asn LB/B rs17856922 - CCDC112 Q8NEF3 VAR_039150 p.Glu354Gly LB/B rs17852930 - CCDC113 Q9H0I3 VAR_030880 p.Asp4Glu LB/B rs8043587 - CCDC113 Q9H0I3 VAR_030881 p.Ser6Thr LB/B rs8043590 - CCDC115 Q96NT0 VAR_075752 p.Asp11Tyr LP/P rs869025583 Congenital disorder of glycosylation 2O (CDG2O) [MIM:616828] CCDC115 Q96NT0 VAR_075753 p.Leu31Ser LP/P rs751325113 Congenital disorder of glycosylation 2O (CDG2O) [MIM:616828] CCDC116 Q8IYX3 VAR_028803 p.Arg96Cys LB/B rs861854 - CCDC116 Q8IYX3 VAR_028804 p.Gly121Arg LB/B rs371513 - CCDC116 Q8IYX3 VAR_028805 p.Arg122Trp LB/B rs861853 - CCDC116 Q8IYX3 VAR_028806 p.Arg199Trp LB/B rs12170285 - CCDC116 Q8IYX3 VAR_028807 p.Ala436Thr LB/B rs11705259 - CCDC116 Q8IYX3 VAR_061578 p.Pro293Leu LB/B rs41279987 - CCDC117 Q8IWD4 VAR_028823 p.Arg147Ser LB/B rs13057011 - CCDC117 Q8IWD4 VAR_028824 p.Ser272Asn LB/B rs9613680 - CCDC122 Q5T0U0 VAR_061579 p.Ile269Thr LB/B rs9567280 - CCDC124 Q96CT7 VAR_053809 p.Glu138Gln LB/B rs8104153 - CCDC125 Q86Z20 VAR_032505 p.Val13Met LB/B rs10471774 - CCDC127 Q96BQ5 VAR_050737 p.Arg60His LB/B rs11557427 - CCDC13 Q8IYE1 VAR_033664 p.Ser547Thr LB/B rs12495805 - CCDC13 Q8IYE1 VAR_055093 p.Arg25Trp LB/B rs17238798 - CCDC13 Q8IYE1 VAR_055094 p.Glu375Val LB/B rs17853515 - CCDC136 Q96JN2 VAR_034880 p.Asp218His LB/B rs3816887 - CCDC136 Q96JN2 VAR_034881 p.Gln1049Glu LB/B rs4728137 - CCDC137 Q6PK04 VAR_050739 p.His127Gln LB/B rs7226091 - CCDC137 Q6PK04 VAR_050740 p.Arg177Trp LB/B rs11150805 - CCDC137 Q6PK04 VAR_050741 p.Arg229Gln LB/B rs11546630 - CCDC137 Q6PK04 VAR_061582 p.Arg282Trp LB/B rs11546631 - CCDC138 Q96M89 VAR_032420 p.Asp99Tyr LB/B rs35794776 - CCDC138 Q96M89 VAR_032421 p.Arg115Lys LB/B rs6740879 - CCDC14 Q49A88 VAR_043116 p.Thr365Pro LB/B rs17310144 - CCDC141 Q6ZP82 VAR_047904 p.Arg828Trp LB/B rs12988301 - CCDC141 Q6ZP82 VAR_047905 p.Arg935Trp LB/B rs17362588 - CCDC141 Q6ZP82 VAR_047906 p.Asn1170Ser LB/B rs13419085 - CCDC142 Q17RM4 VAR_037210 p.Arg534Gln LB/B rs13385919 - CCDC144NL Q6NUI1 VAR_045892 p.Gly82Asp LB/B rs7216787 - CCDC146 Q8IYE0 VAR_050742 p.Asn345Ser LB/B rs1109968 - CCDC146 Q8IYE0 VAR_061583 p.Glu263Gln LB/B rs17853516 - CCDC146 Q8IYE0 VAR_061584 p.Ile466Thr LB/B rs58545343 - CCDC148 Q8NFR7 VAR_039982 p.Gln75Arg LB/B rs4664950 - CCDC148 Q8NFR7 VAR_039983 p.Met157Val LB/B rs12620556 - CCDC148 Q8NFR7 VAR_039984 p.Lys329Arg LB/B rs7559772 - CCDC15 Q0P6D6 VAR_050748 p.Gly529Asp LB/B rs4936966 - CCDC15 Q0P6D6 VAR_050749 p.Cys813Arg LB/B rs7107487 - CCDC15 Q0P6D6 VAR_069401 p.Phe166Cys LB/B - - CCDC150 Q8NCX0 VAR_042600 p.Glu156Lys LB/B rs34133636 - CCDC152 Q4G0S7 VAR_059596 p.Arg251His LB/B rs6879044 - CCDC153 Q494R4 VAR_044322 p.Arg101His LB/B rs2301574 - CCDC157 Q569K6 VAR_038999 p.Pro191Leu LB/B rs12167903 - CCDC157 Q569K6 VAR_039000 p.Ser587Ala LB/B rs2015035 - CCDC157 Q569K6 VAR_060124 p.Asp51Asn LB/B rs740223 - CCDC158 Q5M9N0 VAR_039909 p.Glu232Asp LB/B rs17001889 - CCDC158 Q5M9N0 VAR_039910 p.Ile297Val LB/B rs17001885 - CCDC159 P0C7I6 VAR_043032 p.Cys278Ser LB/B rs6887 - CCDC168 Q8NDH2 VAR_044210 p.Pro4659Ser LB/B rs11843669 - CCDC168 Q8NDH2 VAR_044211 p.Met4723Val LB/B rs17592459 - CCDC168 Q8NDH2 VAR_044212 p.Gly4893Ser LB/B rs9518825 - CCDC168 Q8NDH2 VAR_044213 p.Ser4943Pro LB/B rs9300758 - CCDC168 Q8NDH2 VAR_044214 p.Leu4976Pro LB/B rs9300757 - CCDC168 Q8NDH2 VAR_044215 p.Gly5011Ala LB/B rs17507841 - CCDC168 Q8NDH2 VAR_044216 p.Arg5644Thr LB/B rs7982465 - CCDC168 Q8NDH2 VAR_044217 p.Asn5750Ser LB/B rs7983175 - CCDC168 Q8NDH2 VAR_044218 p.Arg5838Gln LB/B rs17592438 - CCDC168 Q8NDH2 VAR_044219 p.Phe5916Leu LB/B rs7335290 - CCDC168 Q8NDH2 VAR_044220 p.Leu6011Pro LB/B rs6491707 - CCDC168 Q8NDH2 VAR_044221 p.Arg6075Cys LB/B rs9300756 - CCDC168 Q8NDH2 VAR_044222 p.Thr6112Met LB/B rs17507827 - CCDC168 Q8NDH2 VAR_044223 p.Glu6508Ala LB/B rs9514051 - CCDC168 Q8NDH2 VAR_044224 p.Lys6544Glu LB/B rs9554897 - CCDC169 A6NNP5 VAR_057811 p.Lys120Arg LB/B rs9546897 - CCDC17 Q96LX7 VAR_034976 p.Pro353Leu LB/B rs3014242 - CCDC17 Q96LX7 VAR_034977 p.Ile557Val LB/B rs2297654 - CCDC17 Q96LX7 VAR_059599 p.Val470Ile LB/B rs17410855 - CCDC17 Q96LX7 VAR_063516 p.Ser580Asn LB/B rs3014246 - CCDC170 Q8IYT3 VAR_028856 p.Ala269Val LB/B rs12205837 - CCDC170 Q8IYT3 VAR_028857 p.Phe324Ser LB/B rs953767 - CCDC170 Q8IYT3 VAR_028858 p.Ala331Thr LB/B rs17855718 - CCDC170 Q8IYT3 VAR_028859 p.Val604Ile LB/B rs6929137 - CCDC170 Q8IYT3 VAR_028860 p.Val683Ile LB/B rs3734804 - CCDC170 Q8IYT3 VAR_050805 p.Asn479Lys LB/B rs35159094 - CCDC170 Q8IYT3 VAR_050806 p.Arg553Gln LB/B rs34430497 - CCDC170 Q8IYT3 VAR_061591 p.Glu345Lys LB/B rs55868409 - CCDC171 Q6TFL3 VAR_022803 p.Ile17Asn LB/B rs443563 - CCDC171 Q6TFL3 VAR_022804 p.Ser121Thr LB/B rs4741510 - CCDC171 Q6TFL3 VAR_022805 p.Lys1069Arg LB/B rs1539172 - CCDC171 Q6TFL3 VAR_033685 p.Asn495Ile LB/B rs10962127 - CCDC171 Q6TFL3 VAR_050841 p.Cys821Tyr LB/B rs34816651 - CCDC174 Q6PII3 VAR_061573 p.Thr436Met LB/B rs60239620 - CCDC175 P0C221 VAR_050871 p.Gly164Arg LB/B rs17834244 - CCDC175 P0C221 VAR_050872 p.Gly507Glu LB/B rs4261431 - CCDC175 P0C221 VAR_050873 p.Ser689Asn LB/B rs12887189 - CCDC175 P0C221 VAR_050874 p.Ser689Arg LB/B rs4394993 - CCDC178 Q5BJE1 VAR_047010 p.Ala42Thr LB/B rs12606658 - CCDC178 Q5BJE1 VAR_047011 p.Val465Glu LB/B rs9965081 - CCDC178 Q5BJE1 VAR_047012 p.Leu600Arg LB/B rs457896 - CCDC178 Q5BJE1 VAR_047013 p.Asp601Asn LB/B rs466113 - CCDC178 Q5BJE1 VAR_061624 p.Asp420Asn LB/B rs58448816 - CCDC180 Q9P1Z9 VAR_038151 p.Pro162His LB/B rs7864805 - CCDC180 Q9P1Z9 VAR_038152 p.Ser183Arg LB/B rs17855671 - CCDC180 Q9P1Z9 VAR_038153 p.Leu234His LB/B rs10981558 - CCDC180 Q9P1Z9 VAR_038154 p.Glu778Lys LB/B rs12353306 - CCDC180 Q9P1Z9 VAR_038155 p.Ser856Cys LB/B rs2061634 - CCDC180 Q9P1Z9 VAR_038156 p.Phe1175Leu LB/B rs3747495 - CCDC180 Q9P1Z9 VAR_038157 p.Asp1573Asn LB/B rs2306093 - CCDC180 Q9P1Z9 VAR_061250 p.Pro409Arg LB/B rs61261278 - CCDC181 Q5TID7 VAR_030907 p.Phe172Ser LB/B rs3820059 - CCDC181 Q5TID7 VAR_056764 p.Phe238Ile LB/B rs35107735 - CCDC181 Q5TID7 VAR_056765 p.Ser323Cys LB/B rs35287513 - CCDC183 Q5T5S1 VAR_033046 p.Met38Thr LB/B rs945386 - CCDC183 Q5T5S1 VAR_033047 p.Leu113Arg LB/B rs4546744 - CCDC183 Q5T5S1 VAR_033048 p.Asp129Ala LB/B rs7859194 - CCDC183 Q5T5S1 VAR_033049 p.Trp342Arg LB/B rs2811795 - CCDC183 Q5T5S1 VAR_063112 p.Asn421Thr LB/B rs2254143 - CCDC184 Q52MB2 VAR_060278 p.Glu140Asp LB/B rs10783231 - CCDC185 Q8N715 VAR_027066 p.Val195Ala LB/B rs6689850 - CCDC185 Q8N715 VAR_027067 p.Gly329Asp LB/B rs10907376 - CCDC185 Q8N715 VAR_027068 p.Arg331Trp LB/B rs6682552 - CCDC185 Q8N715 VAR_027069 p.Arg380Leu LB/B rs17852896 - CCDC186 Q7Z3E2 VAR_023047 p.Thr85Ile LB/B rs1061159 - CCDC186 Q7Z3E2 VAR_023048 p.Arg179Gln LB/B rs12782946 - CCDC186 Q7Z3E2 VAR_023049 p.Gln271Lys LB/B rs7095762 - CCDC191 Q8NCU4 VAR_036913 p.Arg374Trp LB/B rs17603649 - CCDC191 Q8NCU4 VAR_036914 p.Glu696Asp LB/B rs6784095 - CCDC198 Q9NVL8 VAR_024310 p.Tyr235Cys LB/B rs1152530 - CCDC22 O60826 VAR_065912 p.Thr17Ala LP/P rs863225428 Ritscher-Schinzel syndrome 2 (RTSC2) [MIM:300963] CCDC22 O60826 VAR_075063 p.Tyr557Cys LP/P rs863225429 Ritscher-Schinzel syndrome 2 (RTSC2) [MIM:300963] CCDC22 O60826 VAR_076265 p.Asp546Asn LB/B rs147222955 - CCDC27 Q2M243 VAR_026159 p.Gln54Glu LB/B rs10910021 - CCDC27 Q2M243 VAR_026160 p.Met267Thr LB/B rs1181883 - CCDC27 Q2M243 VAR_026161 p.Thr353Met LB/B rs10910024 - CCDC27 Q2M243 VAR_056777 p.Pro390Leu LB/B rs11806371 - CCDC28A Q8IWP9 VAR_050744 p.Ser42Tyr LB/B rs34538642 - CCDC28A Q8IWP9 VAR_050745 p.Pro82Leu LB/B rs2273510 - CCDC28B Q9BUN5 VAR_056776 p.Arg25Trp LB/B rs1407134 - CCDC30 Q5VVM6 VAR_043472 p.His772Asn LB/B rs16829829 - CCDC32 Q9BV29 VAR_034743 p.Lys2Ile LB/B rs10152546 - CCDC33 Q8N5R6 VAR_036625 p.Ser683Asn LB/B rs1564782 - CCDC33 Q8N5R6 VAR_045602 p.Met635Val LB/B rs2277603 - CCDC33 Q8N5R6 VAR_045603 p.Arg640Leu LB/B rs2277604 - CCDC34 Q96HJ3 VAR_043866 p.Pro53Ser LB/B rs11549824 - CCDC34 Q96HJ3 VAR_043867 p.Glu264Ala LB/B rs17244028 - CCDC34 Q96HJ3 VAR_043868 p.Ile319Val LB/B rs16925453 - CCDC34 Q96HJ3 VAR_050750 p.His192Asn LB/B rs12364852 - CCDC38 Q502W7 VAR_056778 p.Val36Phe LB/B rs12368787 - CCDC38 Q502W7 VAR_056779 p.Met227Val LB/B rs10859974 - CCDC39 Q9UFE4 VAR_072468 p.Thr594Ile US rs140505857 Ciliary dyskinesia, primary, 14 (CILD14) [MIM:613807] CCDC40 Q4G0X9 VAR_035193 p.Ala8Pro LB/B rs2289530 - CCDC42 Q96M95 VAR_026282 p.Ala144Thr LB/B rs2288156 - CCDC42 Q96M95 VAR_057786 p.Thr51Pro LB/B rs12952995 - CCDC42 Q96M95 VAR_057787 p.Arg75Cys LB/B rs9893451 - CCDC50 Q8IVM0 VAR_050754 p.Leu121Phe LB/B rs35380043 - CCDC50 Q8IVM0 VAR_050755 p.Met156Thr LB/B rs293813 - CCDC51 Q96ER9 VAR_032515 p.Phe360Ser LB/B rs7618609 - CCDC54 Q8NEL0 VAR_032151 p.Arg38Gln LB/B rs709564 - CCDC57 Q2TAC2 VAR_032516 p.Glu237Gln LB/B rs34543170 - CCDC57 Q2TAC2 VAR_032517 p.Gln321Arg LB/B rs7406116 - CCDC57 Q2TAC2 VAR_032518 p.Val480Met LB/B rs7209474 - CCDC57 Q2TAC2 VAR_032519 p.Arg774Gly LB/B rs4625783 - CCDC57 Q2TAC2 VAR_032520 p.Asp776Asn LB/B rs7406163 - CCDC57 Q2TAC2 VAR_032521 p.Ala777Thr LB/B rs7406162 - CCDC57 Q2TAC2 VAR_032522 p.Gln810Lys LB/B rs7213172 - CCDC57 Q2TAC2 VAR_032523 p.Met833Thr LB/B rs11077969 - CCDC6 Q16204 VAR_062971 p.Pro470Thr LB/B rs1053266 - CCDC60 Q8IWA6 VAR_033667 p.Ile46Val LB/B rs1064319 - CCDC60 Q8IWA6 VAR_033668 p.Thr115Ala LB/B rs2519540 - CCDC60 Q8IWA6 VAR_033669 p.Val393Ile LB/B rs16949292 - CCDC62 Q6P9F0 VAR_026715 p.Thr394Lys LB/B rs17855031 - CCDC62 Q6P9F0 VAR_035498 p.Gln31Glu US - A colorectal cancer sample CCDC62 Q6P9F0 VAR_061585 p.Thr141Met LB/B rs58131754 - CCDC62 Q6P9F0 VAR_086976 p.His283Tyr US rs139198472 Spermatogenic failure 67 (SPGF67) [MIM:619803] CCDC63 Q8NA47 VAR_050758 p.Leu212Ser LB/B rs12371434 - CCDC65 Q8IXS2 VAR_056780 p.His133Arg LB/B rs10747556 - CCDC65 Q8IXS2 VAR_056781 p.Tyr408Cys LB/B rs4760600 - CCDC66 A2RUB6 VAR_039111 p.Gln383Arg LB/B rs1491170 - CCDC66 A2RUB6 VAR_039112 p.Arg460Gln LB/B rs7637449 - CCDC66 A2RUB6 VAR_039113 p.Glu592Lys LB/B rs4681904 - CCDC66 A2RUB6 VAR_080466 p.Glu592Gln LB/B rs4681904 - CCDC66 A2RUB6 VAR_080467 p.Cys681Tyr LB/B rs758090911 - CCDC68 Q9H2F9 VAR_050762 p.Val249Ala LB/B rs34751112 - CCDC69 A6NI79 VAR_042584 p.Arg197Lys LB/B rs248427 - CCDC7 Q96M83 VAR_024308 p.Met1267Thr LB/B rs2504011 - CCDC7 Q96M83 VAR_033692 p.Gly1117Ala LB/B rs4448627 - CCDC7 Q96M83 VAR_033693 p.Val1364Ile LB/B rs1418538 - CCDC7 Q96M83 VAR_050766 p.Lys449Thr LB/B rs12268559 - CCDC7 Q96M83 VAR_061586 p.Lys148Gln LB/B rs56391924 - CCDC70 Q6NSX1 VAR_026238 p.Ile195Val LB/B rs1054515 - CCDC70 Q6NSX1 VAR_050763 p.Arg115Cys LB/B rs17076052 - CCDC71 Q8IV32 VAR_026236 p.Gln317Leu LB/B rs4955419 - CCDC71 Q8IV32 VAR_026237 p.Trp339Arg LB/B rs4955418 - CCDC74A Q96AQ1 VAR_030268 p.Gly302Arg LB/B rs13660 - CCDC74B Q96LY2 VAR_030269 p.Thr169Met LB/B rs184349150 - CCDC74B Q96LY2 VAR_030270 p.Arg346His LB/B rs3177472 - CCDC77 Q9BR77 VAR_029838 p.Ser25Arg LB/B rs4980895 - CCDC77 Q9BR77 VAR_029839 p.Met335Thr LB/B rs735295 - CCDC78 A2IDD5 VAR_032867 p.Trp252Arg LB/B rs2071950 - CCDC8 Q9H0W5 VAR_020272 p.Lys507Asn LB/B rs2279517 - CCDC8 Q9H0W5 VAR_061587 p.Gly296Arg LB/B rs11880658 - CCDC8 Q9H0W5 VAR_061588 p.His383Tyr LB/B rs34186470 - CCDC81 Q6ZN84 VAR_032524 p.Tyr449Cys LB/B rs3741005 - CCDC82 Q8N4S0 VAR_026164 p.Gln149Glu LB/B rs17851661 - CCDC82 Q8N4S0 VAR_026165 p.Gln327Arg LB/B rs10831519 - CCDC82 Q8N4S0 VAR_050764 p.Lys128Arg LB/B rs3748261 - CCDC83 Q8IWF9 VAR_032525 p.Thr49Ala LB/B rs12362209 - CCDC86 Q9H6F5 VAR_032069 p.Gln153His LB/B rs2074421 - CCDC87 Q9NVE4 VAR_033224 p.Phe217Leu LB/B rs17853294 - CCDC87 Q9NVE4 VAR_056782 p.Ala156Thr LB/B rs1110707 - CCDC88B A6NC98 VAR_038523 p.Asp193Glu LB/B rs647152 - CCDC88B A6NC98 VAR_038524 p.Trp639Arg LB/B rs685870 - CCDC88B A6NC98 VAR_038525 p.Asp886Ala LB/B rs1318165 - CCDC88C Q9P219 VAR_046613 p.Ala811Glu LB/B rs17127223 - CCDC88C Q9P219 VAR_046614 p.Ala1028Val LB/B rs1970911 - CCDC88C Q9P219 VAR_046615 p.Leu1992Pro LB/B rs941920 - CCDC88C Q9P219 VAR_057777 p.Leu637Val LB/B rs7160308 - CCDC88C Q9P219 VAR_071981 p.Arg464His LP/P rs587782989 Spinocerebellar ataxia 40 (SCA40) [MIM:616053] CCDC9 Q9Y3X0 VAR_033670 p.Glu215Asp LB/B rs2032811 - CCDC9 Q9Y3X0 VAR_033671 p.Ala456Val LB/B rs35119724 - CCDC9 Q9Y3X0 VAR_050767 p.Leu478Pro LB/B rs888836 - CCDC90B Q9GZT6 VAR_033322 p.Phe10Leu LB/B rs494791 - CCDC91 Q7Z6B0 VAR_021531 p.Met261Val LB/B rs1133028 - CCDC91 Q7Z6B0 VAR_021532 p.Val314Met LB/B rs10771427 - CCDC92 Q53HC0 VAR_030301 p.Ser70Cys LB/B rs11057401 - CCDC92 Q53HC0 VAR_030302 p.Arg281His LB/B rs17886730 - CCDC92 Q53HC0 VAR_050765 p.Ala253Thr LB/B rs35935939 - CCDC93 Q567U6 VAR_035499 p.His315Arg US - A colorectal cancer sample CCDC93 Q567U6 VAR_054108 p.Arg179Cys LB/B rs33975708 - CCDC93 Q567U6 VAR_054109 p.Arg213Cys LB/B rs34095554 - CCDC93 Q567U6 VAR_054110 p.Pro228Leu LB/B rs17512204 - CCDC93 Q567U6 VAR_054111 p.Tyr465His LB/B rs17047557 - CCDC96 Q2M329 VAR_026162 p.Glu96Lys LB/B rs871134 - CCDC9B Q6ZUT6 VAR_035620 p.Gly189Glu US - A colorectal cancer sample CCER1 Q8TC90 VAR_032512 p.Ile379Met LB/B rs17855513 - CCER1 Q8TC90 VAR_059617 p.Asp286Glu LB/B rs11105882 - CCER2 I3L3R5 VAR_079159 p.Glu33Asp LB/B rs76973734 - CCER2 I3L3R5 VAR_079160 p.Leu39Pro LB/B rs530595113 - CCER2 I3L3R5 VAR_079161 p.Glu64Asp LB/B rs375222589 - CCER2 I3L3R5 VAR_079163 p.Gly80Val LB/B rs908319857 - CCER2 I3L3R5 VAR_079164 p.Glu160Lys LB/B rs371603378 - CCER2 I3L3R5 VAR_079165 p.Arg195Cys LB/B rs569628536 - CCER2 I3L3R5 VAR_079168 p.Ala224Thr LB/B rs1301343892 - CCER2 I3L3R5 VAR_079170 p.Glu232Ala LB/B rs369436329 - CCER2 I3L3R5 VAR_079171 p.Glu242Lys US rs1205789753 - CCER2 I3L3R5 VAR_079172 p.Asp249Gly LB/B rs565410180 - CCHCR1 Q8TD31 VAR_017761 p.Arg102Gln LB/B rs130075 - CCHCR1 Q8TD31 VAR_017762 p.Arg103Trp LB/B rs130065 - CCHCR1 Q8TD31 VAR_017763 p.Arg109Trp LB/B rs130076 - CCHCR1 Q8TD31 VAR_017764 p.Ser164Arg LB/B rs130066 - CCHCR1 Q8TD31 VAR_017765 p.Glu275Asp LB/B rs130067 - CCHCR1 Q8TD31 VAR_017766 p.Arg417Trp LB/B rs130068 - CCHCR1 Q8TD31 VAR_017767 p.Arg417Gln LB/B rs130069 - CCHCR1 Q8TD31 VAR_017768 p.Lys546Arg LB/B rs2073720 - CCHCR1 Q8TD31 VAR_017769 p.Gly575Cys LB/B rs130079 - CCHCR1 Q8TD31 VAR_017770 p.Arg627Gln LB/B rs130072 - CCHCR1 Q8TD31 VAR_017771 p.Gln639His LB/B rs130074 - CCHCR1 Q8TD31 VAR_017772 p.Ser776Cys LB/B rs1576 - CCHCR1 Q8TD31 VAR_017782 p.Leu179Gln LB/B rs11540822 - CCHCR1 Q8TD31 VAR_017783 p.Ala367Thr LB/B rs2027937 - CCHCR1 Q8TD31 VAR_017784 p.Ala733Val LB/B rs140560656 - CCIN Q13939 VAR_050039 p.Ser75Asn LB/B rs34789048 - CCK P06307 VAR_018818 p.Gly32Glu LB/B rs11571848 - CCK P06307 VAR_024452 p.Arg95Trp LB/B rs3774395 - CCKBR P32239 VAR_014684 p.Leu37Phe LB/B rs1805000 - CCKBR P32239 VAR_014685 p.Val125Ile LB/B rs1805002 - CCKBR P32239 VAR_014686 p.Arg215His LB/B rs1805004 - CCKBR P32239 VAR_014687 p.Arg319Gln LB/B rs1805001 - CCKBR P32239 VAR_049388 p.Val77Gly LB/B rs35816985 - CCL11 P51671 VAR_001634 p.Leu7Pro LB/B - - CCL11 P51671 VAR_001635 p.Ala23Thr LB/B rs1129844 - CCL11 P51671 VAR_001636 p.Arg51Ser LB/B - - CCL11 P51671 VAR_001637 p.Lys79Arg LB/B - - CCL11 P51671 VAR_048705 p.Lys86Thr LB/B rs34262946 - CCL13 Q99616 VAR_024169 p.Ala5Ser LB/B rs3136677 - CCL13 Q99616 VAR_048706 p.Asn29Ser LB/B rs34566308 - CCL14 Q16627 VAR_048707 p.Lys61Glu LB/B rs16971802 - CCL15 Q16663 VAR_011640 p.Thr24Ile LB/B rs854625 - CCL17 Q92583 VAR_048708 p.Lys5Asn LB/B rs34693308 - CCL17 Q92583 VAR_048709 p.Val67Met LB/B rs34379253 - CCL20 P78556 VAR_011915 p.Val47Met LB/B rs1049617 - CCL22 O00626 VAR_055117 p.Asp2Ala LB/B rs4359426 - CCL23 P55773 VAR_011916 p.Met106Val LB/B rs1003645 - CCL24 O00175 VAR_018404 p.Ile29Leu LB/B rs2302006 - CCL24 O00175 VAR_048710 p.Ser31Phe LB/B rs11465293 - CCL24 O00175 VAR_048711 p.Ala102Thr LB/B rs11465312 - CCL24 O00175 VAR_048712 p.Gln110Glu LB/B rs11465313 - CCL25 O15444 VAR_044519 p.Thr23Ala LB/B rs960173 - CCL25 O15444 VAR_044520 p.His101Arg LB/B rs2032887 - CCL25 O15444 VAR_044521 p.Thr104Met LB/B rs1129763 - CCL26 Q9Y258 VAR_029192 p.Leu18Arg LB/B rs11465333 - CCL27 Q9Y4X3 VAR_022103 p.Ile78Val LB/B rs11575594 - CCL27 Q9Y4X3 VAR_022104 p.Leu96Phe LB/B rs11575584 - CCL3 P10147 VAR_048701 p.Glu78Asp LB/B rs34171309 - CCL4 P13236 VAR_048702 p.Met12Val LB/B rs1049752 - CCL4 P13236 VAR_048703 p.Pro20Leu LB/B rs1130750 - CCL4 P13236 VAR_059211 p.Ser80Thr LB/B rs1719152 - CCL5 P13501 VAR_043043 p.Ser24Phe LB/B rs377415776 - CCL8 P80075 VAR_001633 p.Lys69Gln LB/B rs1133763 - CCL8 P80075 VAR_048704 p.Ala14Val LB/B rs35401229 - CCM2 Q9BSQ5 VAR_023575 p.Val53Ile LB/B rs2107732 - CCM2 Q9BSQ5 VAR_023576 p.Val120Ile LB/B rs11552377 - CCM2 Q9BSQ5 VAR_023577 p.Leu198Arg LP/P rs137852843 Cerebral cavernous malformations 2 (CCM2) [MIM:603284] CCM2 Q9BSQ5 VAR_050768 p.Ser289Asn LB/B rs2289366 - CCM2 Q9BSQ5 VAR_067352 p.Gln215His LP/P - Cerebral cavernous malformations 2 (CCM2) [MIM:603284] CCM2 Q9BSQ5 VAR_067353 p.Leu229Gln LP/P - Cerebral cavernous malformations 2 (CCM2) [MIM:603284] CCN1 O00622 VAR_018934 p.Arg334Trp LB/B rs9658587 - CCN2 P29279 VAR_027925 p.His83Asp LB/B rs7451102 - CCN3 P48745 VAR_049568 p.Arg42Gln LB/B rs2279112 - CCN3 P48745 VAR_049569 p.Arg233His LB/B rs11538929 - CCN4 O95388 VAR_061265 p.Ala205Ser LB/B rs35513885 - CCN5 O76076 VAR_049566 p.Arg59Gln LB/B rs33932543 - CCN6 O95389 VAR_016224 p.Gln56His LB/B rs1230345 - CCN6 O95389 VAR_016225 p.Cys78Arg LP/P rs121908902 Progressive pseudorheumatoid dysplasia (PPRD) [MIM:208230] CCN6 O95389 VAR_049567 p.Arg60Cys LB/B rs17073260 - CCN6 O95389 VAR_081485 p.Cys78Tyr LP/P - Progressive pseudorheumatoid dysplasia (PPRD) [MIM:208230] CCN6 O95389 VAR_081486 p.Gly83Glu LB/B rs147337485 - CCN6 O95389 VAR_081487 p.Cys114Arg LP/P - Progressive pseudorheumatoid dysplasia (PPRD) [MIM:208230] CCN6 O95389 VAR_081488 p.Cys114Trp LP/P - Progressive pseudorheumatoid dysplasia (PPRD) [MIM:208230] CCN6 O95389 VAR_081490 p.Cys145Arg US - Progressive pseudorheumatoid dysplasia (PPRD) [MIM:208230] CCN6 O95389 VAR_081491 p.Cys223Gly LP/P rs782813346 Progressive pseudorheumatoid dysplasia (PPRD) [MIM:208230] CCN6 O95389 VAR_081492 p.Ser228Pro US - Progressive pseudorheumatoid dysplasia (PPRD) [MIM:208230] CCN6 O95389 VAR_081493 p.Cys268Gly US - Progressive pseudorheumatoid dysplasia (PPRD) [MIM:208230] CCN6 O95389 VAR_081495 p.Cys337Tyr LP/P - Progressive pseudorheumatoid dysplasia (PPRD) [MIM:208230] CCN6 O95389 VAR_081652 p.Tyr99Phe US - Progressive pseudorheumatoid dysplasia (PPRD) [MIM:208230] CCN6 O95389 VAR_081653 p.Cys100Ser US - Progressive pseudorheumatoid dysplasia (PPRD) [MIM:208230] CCN6 O95389 VAR_081654 p.Cys114Tyr LP/P - Progressive pseudorheumatoid dysplasia (PPRD) [MIM:208230] CCN6 O95389 VAR_081655 p.Cys145Tyr US rs121908899 Progressive pseudorheumatoid dysplasia (PPRD) [MIM:208230] CCN6 O95389 VAR_081657 p.Gly226Val LP/P - Progressive pseudorheumatoid dysplasia (PPRD) [MIM:208230] CCN6 O95389 VAR_081659 p.Ser334Pro LP/P rs121908903 Progressive pseudorheumatoid dysplasia (PPRD) [MIM:208230] CCNA2 P20248 VAR_018819 p.Ile163Val LB/B rs769242 - CCNB2 O95067 VAR_022221 p.Met100Thr LB/B rs16941036 - CCNB2 O95067 VAR_022222 p.Ile395Thr LB/B rs28383563 - CCNB2 O95067 VAR_053052 p.Val135Ile LB/B rs2306785 - CCNB3 Q8WWL7 VAR_036580 p.Lys597Thr US - A colorectal cancer sample CCNB3 Q8WWL7 VAR_047027 p.Gly1001Arg LB/B rs6614336 - CCND2 P30279 VAR_018820 p.Gly268Arg LB/B rs3217921 - CCND2 P30279 VAR_072370 p.Thr280Ala LP/P rs587777618 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938] CCND2 P30279 VAR_072371 p.Thr280Asn LP/P rs587777620 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938] CCND2 P30279 VAR_072372 p.Pro281Leu LP/P rs587777622 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938] CCND2 P30279 VAR_072373 p.Pro281Arg LP/P rs587777622 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938] CCND2 P30279 VAR_072374 p.Val284Gly LP/P rs777786993 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938] CCND3 P30281 VAR_014205 p.Ser259Ala LB/B rs1051130 - CCND3 P30281 VAR_020412 p.Pro134Ser LB/B rs3218089 - CCND3 P30281 VAR_033726 p.Glu253Asp LB/B rs33966734 - CCNE2 O96020 VAR_021347 p.Asn387Ser LB/B rs28399585 - CCNF P41002 VAR_085177 p.Ser3Gly US rs944306963 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 (FTDALS5) [MIM:619141] CCNF P41002 VAR_085178 p.Lys97Arg US rs1465313712 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 (FTDALS5) [MIM:619141] CCNF P41002 VAR_085179 p.Thr181Ile US rs745821656 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 (FTDALS5) [MIM:619141] CCNF P41002 VAR_085180 p.Ser195Arg LP/P rs1371569927 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 (FTDALS5) [MIM:619141] CCNF P41002 VAR_085181 p.Arg392Thr US rs954539468 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 (FTDALS5) [MIM:619141] CCNF P41002 VAR_085182 p.Ser509Pro US rs760953006 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 (FTDALS5) [MIM:619141] CCNF P41002 VAR_085183 p.Thr543Ile US rs756914411 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 (FTDALS5) [MIM:619141] CCNF P41002 VAR_085184 p.Ser621Gly LP/P rs778264897 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 (FTDALS5) [MIM:619141] CCNF P41002 VAR_085185 p.Glu624Lys LP/P rs771621178 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 (FTDALS5) [MIM:619141] CCNF P41002 VAR_085186 p.Ile772Thr US rs762663630 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 (FTDALS5) [MIM:619141] CCNG1 P51959 VAR_021079 p.Asn178His LB/B rs2069352 - CCNG1 P51959 VAR_021080 p.Phe179Leu LB/B rs11541970 - CCNG2 Q16589 VAR_014333 p.Leu4Val LB/B rs4150050 - CCNG2 Q16589 VAR_014334 p.Glu28Gly LB/B rs4150051 - CCNH P51946 VAR_013067 p.Arg28Leu LB/B rs2234942 - CCNH P51946 VAR_013068 p.Met54Val LB/B rs3093785 - CCNH P51946 VAR_013069 p.Lys138Arg LB/B rs2266691 - CCNH P51946 VAR_013070 p.Val270Ala LB/B rs2230641 - CCNI Q14094 VAR_016312 p.Val207Ile LB/B rs4252903 - CCNI2 Q6ZMN8 VAR_043471 p.Ala91Pro LB/B rs803056 - CCNJL Q8IV13 VAR_053053 p.His234Tyr LB/B rs13362036 - CCNK O75909 VAR_081570 p.Lys111Glu LP/P rs1566748800 Intellectual developmental disorder with hypertelorism and distinctive facies (IDDHDF) [MIM:618147] CCNO P22674 VAR_029081 p.Leu161Met LB/B rs13169396 - CCNO P22674 VAR_071197 p.His239Arg LP/P rs797045150 Ciliary dyskinesia, primary, 29 (CILD29) [MIM:615872] CCNO P22674 VAR_077581 p.Leu213Pro LP/P rs775051461 Ciliary dyskinesia, primary, 29 (CILD29) [MIM:615872] CCNQ Q8N1B3 VAR_034642 p.Cys183Ser LB/B rs17850173 - CCNT1 O60563 VAR_053054 p.His362Arg LB/B rs17123261 - CCNT1 O60563 VAR_069400 p.Arg541Cys LB/B rs201951577 - CCNYL2 Q5T2Q4 VAR_037297 p.Val57Glu LB/B rs2490085 - CCNYL2 Q5T2Q4 VAR_037298 p.Arg176Gln LB/B rs2489720 - CCNYL2 Q5T2Q4 VAR_037299 p.Ile288Val LB/B rs2505861 - CCP110 O43303 VAR_019823 p.Ile252Met LB/B rs226891 - CCP110 O43303 VAR_019824 p.Met375Ile LB/B rs7190666 - CCP110 O43303 VAR_056788 p.Arg69Ser LB/B rs16972129 - CCP110 O43303 VAR_056789 p.Pro171Leu LB/B rs3751821 - CCP110 O43303 VAR_056790 p.Phe347Ile LB/B rs11645625 - CCPG1 Q9ULG6 VAR_037063 p.Ser44Pro LB/B rs11555304 - CCPG1 Q9ULG6 VAR_037064 p.Glu161Val LB/B rs17853336 - CCPG1 Q9ULG6 VAR_037065 p.Tyr418His LB/B rs34958422 - CCPG1 Q9ULG6 VAR_037066 p.Arg436Leu LB/B rs17857026 - CCPG1 Q9ULG6 VAR_037067 p.Ala477Val LB/B rs1063562 - CCPG1 Q9ULG6 VAR_037068 p.Ala517Asp LB/B rs1063563 - CCPG1 Q9ULG6 VAR_037069 p.Gly553Asp LB/B rs1063565 - CCPG1 Q9ULG6 VAR_037070 p.Gly553Ser LB/B rs1063564 - CCPG1 Q9ULG6 VAR_037071 p.Asn590Lys LB/B rs1063566 - CCPG1 Q9ULG6 VAR_037072 p.Lys627Glu LB/B rs17853335 - CCPG1 Q9ULG6 VAR_037073 p.Thr646Ile LB/B rs17857027 - CCPG1 Q9ULG6 VAR_037074 p.His673Arg LB/B rs1063567 - CCR2 P41597 VAR_014339 p.Val64Ile LB/B rs1799864 - CCR2 P41597 VAR_014340 p.Gly355Glu LB/B rs3918387 - CCR2 P41597 VAR_020066 p.Leu45Val LB/B rs4987052 - CCR3 P51677 VAR_010668 p.Cys218Ser LB/B - - CCR3 P51677 VAR_020067 p.Gly21Asp LB/B rs4987125 - CCR3 P51677 VAR_049382 p.Pro39Leu LB/B rs5742906 - CCR4 P51679 VAR_010669 p.Leu130Val LB/B - - CCR4 P51679 VAR_010670 p.Cys178Ser LB/B rs753825374 - CCR5 P51681 VAR_003481 p.Tyr10Asp US - - CCR5 P51681 VAR_003482 p.Arg31His LB/B rs56340326 - CCR5 P51681 VAR_003483 p.Pro34Leu US - - CCR5 P51681 VAR_003484 p.Lys62Arg US - - CCR5 P51681 VAR_003485 p.Tyr68His LB/B rs758090461 - CCR5 P51681 VAR_003486 p.Asp95Asn LB/B rs149975182 - CCR5 P51681 VAR_003487 p.Gly97Glu US - - CCR5 P51681 VAR_003488 p.Leu122Pro US - - CCR5 P51681 VAR_003489 p.Phe158Ser US - - CCR5 P51681 VAR_003490 p.Tyr176Cys US - - CCR5 P51681 VAR_003491 p.Thr177Ala US - - CCR5 P51681 VAR_003492 p.Ser185Asn US - - CCR5 P51681 VAR_003493 p.Met210Val US - - CCR5 P51681 VAR_003494 p.Tyr214Cys US - - CCR5 P51681 VAR_003495 p.Thr239Ser US - - CCR5 P51681 VAR_003496 p.Leu246Pro LB/B rs143181119 - CCR5 P51681 VAR_003497 p.Thr288Met LB/B rs534088482 - CCR5 P51681 VAR_003498 p.Glu302Gly US - - CCR5 P51681 VAR_003499 p.Lys303Glu US - - CCR5 P51681 VAR_003500 p.Asn306Ser US - - CCR5 P51681 VAR_003501 p.Lys322Arg US - - CCR5 P51681 VAR_003502 p.Glu333Gly US - - CCR5 P51681 VAR_003503 p.Ala335Val LB/B rs1800944 - CCR5 P51681 VAR_003504 p.Tyr339Phe LB/B rs1800945 - CCR5 P51681 VAR_003505 p.Glu345Gly US - - CCR5 P51681 VAR_011839 p.Ala29Ser LB/B rs1800939 - CCR5 P51681 VAR_011840 p.Leu55Gln LB/B rs1799863 - CCR5 P51681 VAR_011841 p.Arg60Ser LB/B rs1800940 - CCR5 P51681 VAR_011842 p.Arg223Gln LB/B rs1800452 - CCR5 P51681 VAR_011843 p.Gly301Val LB/B rs1800943 - CCR5 P51681 VAR_012481 p.Cys178Arg LB/B rs199824195 - CCR5 P51681 VAR_024066 p.Ile12Leu LB/B - - CCR5 P51681 VAR_024067 p.Cys20Ser LB/B rs145061115 - CCR5 P51681 VAR_024068 p.Ile42Phe LB/B rs1475319259 - CCR5 P51681 VAR_024069 p.Ala73Val LB/B rs56198941 - CCR5 P51681 VAR_024070 p.Ser215Leu LB/B rs1017863136 - CCR5 P51681 VAR_080410 p.Gly106Arg LB/B rs183662584 - CCR7 P32248 VAR_049383 p.Met7Val LB/B rs2228015 - CCR8 P51685 VAR_049384 p.Ala27Gly LB/B rs2853699 - CCR9 P51686 VAR_020068 p.Met284Val LB/B rs12721497 - CCR9 P51686 VAR_029208 p.Ile92Val LB/B rs45530037 - CCRL2 O00421 VAR_026488 p.Phe167Tyr LB/B rs3204849 - CCRL2 O00421 VAR_026489 p.Val168Met LB/B rs6441977 - CCRL2 O00421 VAR_026490 p.Ile243Val LB/B rs3204850 - CCRL2 O00421 VAR_049385 p.Tyr4Cys LB/B rs11574443 - CCS O14618 VAR_068078 p.Arg163Trp LB/B rs142340643 - CCSAP Q6IQ19 VAR_059594 p.Ala123Val LB/B rs6587326 - CCSER1 Q9C0I3 VAR_059336 p.Gly382Ser LB/B rs12647859 - CCSER2 Q9H7U1 VAR_036952 p.Asn84Ser LB/B rs3814205 - CCSER2 Q9H7U1 VAR_036953 p.Cys755Tyr LB/B rs11201058 - CCSER2 Q9H7U1 VAR_036954 p.Ser819Pro LB/B rs11557865 - CCSER2 Q9H7U1 VAR_036955 p.Pro821Ser LB/B rs12569751 - CCT3 P49368 VAR_052265 p.Leu391Phe LB/B rs2230194 - CCT4 P50991 VAR_052266 p.Ile112Val LB/B rs2272428 - CCT5 P48643 VAR_030658 p.His147Arg LP/P rs118203986 Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (HSNSP) [MIM:256840] CCT5 P48643 VAR_052267 p.Glu146Val LB/B rs11557652 - CCT6A P40227 VAR_052268 p.Tyr229Cys LB/B rs33922584 - CCT6B Q92526 VAR_057269 p.Gly247Ala LB/B rs2230553 - CCT6B Q92526 VAR_060297 p.Arg17Gln LB/B rs9635769 - CCT6B Q92526 VAR_060298 p.Val48Ala LB/B rs2230552 - CCT7 Q99832 VAR_052269 p.Thr259Ala LB/B rs2231427 - CCT8 P50990 VAR_052270 p.His4Gln LB/B rs16983693 - CCT8 P50990 VAR_052271 p.Val409Ile LB/B rs8129954 - CCT8L1P A6NM43 VAR_046039 p.Cys217Ser LB/B rs6969304 - CCT8L1P A6NM43 VAR_046040 p.Asp308Asn LB/B rs12672139 - CCT8L1P A6NM43 VAR_046041 p.Ser395Gly LB/B rs6953943 - CCT8L2 Q96SF2 VAR_046042 p.Trp320Arg LB/B rs2236639 - CD101 Q93033 VAR_028371 p.Asn225Ser LB/B rs3754112 - CD101 Q93033 VAR_028372 p.Met415Val LB/B rs2249265 - CD101 Q93033 VAR_028373 p.Arg518Gln LB/B rs17235766 - CD101 Q93033 VAR_028374 p.Ser525Arg LB/B rs17235773 - CD101 Q93033 VAR_028375 p.Val965Ile LB/B rs12097758 - CD101 Q93033 VAR_028376 p.Arg988Cys LB/B rs12067543 - CD101 Q93033 VAR_054434 p.Gly157Ser LB/B rs34999087 - CD101 Q93033 VAR_054435 p.Thr631Ser LB/B rs34510762 - CD101 Q93033 VAR_054436 p.Arg933Gln LB/B rs12093834 - CD101 Q93033 VAR_054437 p.Leu955Phe LB/B rs34223095 - CD101 Q93033 VAR_054438 p.Arg992Trp LB/B rs34248572 - CD109 Q6YHK3 VAR_028875 p.Gly45Val LB/B rs9446983 - CD109 Q6YHK3 VAR_028876 p.Tyr703Ser LB/B rs10455097 - CD109 Q6YHK3 VAR_028877 p.Asn797Ser LB/B rs2351528 - CD109 Q6YHK3 VAR_028878 p.Val845Ile LB/B rs5023688 - CD109 Q6YHK3 VAR_028879 p.Thr1241Met LB/B rs2917862 - CD109 Q6YHK3 VAR_036236 p.Gln1007Glu US rs1454572681 A colorectal cancer sample CD109 Q6YHK3 VAR_036237 p.Asn1065Lys US - A colorectal cancer sample CD109 Q6YHK3 VAR_048105 p.Gly377Asp LB/B rs7741152 - CD109 Q6YHK3 VAR_048106 p.Leu641Phe LB/B rs7742662 - CD109 Q6YHK3 VAR_048107 p.Val1009Met LB/B rs35630075 - CD109 Q6YHK3 VAR_048108 p.His1296Arg LB/B rs13207595 - CD109 Q6YHK3 VAR_074179 p.Asp791Gly LB/B - - CD14 P08571 VAR_024302 p.Asn204Asp LB/B rs2228049 - CD14 P08571 VAR_050771 p.Glu341Lys LB/B rs11556179 - CD151 P48509 VAR_012490 p.Lys132Arg LB/B - - CD151 P48509 VAR_012491 p.Pro137Ser LB/B rs1431926999 - CD151 P48509 VAR_021153 p.Arg178His LB/B rs779114765 - CD151 P48509 VAR_025098 p.Thr120Met LB/B rs34215390 - CD160 O95971 VAR_027747 p.Ile91Val LB/B rs2231373 - CD163 Q86VB7 VAR_026574 p.Ile342Val LB/B rs4883263 - CD163L1 Q9NR16 VAR_057206 p.Asp578Asn LB/B rs4072797 - CD163L1 Q9NR16 VAR_057207 p.Gly582Ala LB/B rs4072796 - CD163L1 Q9NR16 VAR_057208 p.Gly1055Ser LB/B rs36206713 - CD163L1 Q9NR16 VAR_057209 p.Met1108Thr LB/B rs35480970 - CD163L1 Q9NR16 VAR_059810 p.Leu523Met LB/B rs6488268 - CD164L2 Q6UWJ8 VAR_057508 p.Val76Met LB/B rs2504779 - CD177 Q8N6Q3 VAR_025858 p.Ala3Pro LB/B rs45441892 - CD177 Q8N6Q3 VAR_025859 p.Leu251Ile LB/B rs10425835 - CD177 Q8N6Q3 VAR_025860 p.Ala348Thr LB/B rs17856829 - CD177 Q8N6Q3 VAR_026156 p.Leu119Phe LB/B - - CD177 Q8N6Q3 VAR_026157 p.Arg323Gln LB/B - - CD177 Q8N6Q3 VAR_026158 p.Phe379Ser LB/B - - CD177 Q8N6Q3 VAR_079754 p.His31Leu LB/B rs45553433 - CD177 Q8N6Q3 VAR_079755 p.Gly261Ala LB/B - - CD177 Q8N6Q3 VAR_079756 p.Gly431Arg LB/B rs78718189 - CD180 Q99467 VAR_021978 p.Asn53Lys LB/B rs16875312 - CD180 Q99467 VAR_021979 p.Ser99Arg LB/B rs2230520 - CD180 Q99467 VAR_057298 p.Val20Leu LB/B rs5744463 - CD180 Q99467 VAR_057299 p.Asp259Asn LB/B rs5744525 - CD180 Q99467 VAR_057300 p.Thr430Ala LB/B rs2230523 - CD180 Q99467 VAR_057301 p.Phe648Leu LB/B rs2230524 - CD180 Q99467 VAR_061859 p.Val356Met LB/B rs56752081 - CD19 P15391 VAR_026963 p.Leu174Val LB/B rs2904880 - CD19 P15391 VAR_036987 p.Arg514His LB/B rs34763945 - CD1A P06126 VAR_010209 p.Thr30Ile LB/B rs2269714 - CD1A P06126 VAR_010210 p.Cys68Trp LB/B rs2269715 - CD1A P06126 VAR_062522 p.Lys22Asn LB/B rs3087217 - CD1C P29017 VAR_031564 p.Asn70Thr LB/B rs3138100 - CD1C P29017 VAR_031565 p.Phe300Ser LB/B rs3138105 - CD1D P15813 VAR_010211 p.Thr64Ser LB/B rs62621276 - CD1E P15812 VAR_010191 p.Gln106Arg LB/B rs1065457 - CD1E P15812 VAR_010192 p.Arg164Trp LB/B rs199655202 - CD1E P15812 VAR_010193 p.Leu194Pro LB/B rs200741122 - CD1E P15812 VAR_056035 p.Gly15Glu LB/B rs3180089 - CD1E P15812 VAR_058324 p.His102Arg LB/B rs2873587 - CD1E P15812 VAR_058325 p.Ser149Asn LB/B rs35116276 - CD2 P06729 VAR_017104 p.His266Gln LB/B rs699738 - CD2 P06729 VAR_033608 p.His339Asn LB/B rs35880225 - CD2 P06729 VAR_035504 p.Cys217Tyr US - A breast cancer sample CD200 P41217 VAR_027605 p.Ser11Cys LB/B rs1131199 - CD200 P41217 VAR_027606 p.Pro46Thr LB/B rs2272022 - CD200 P41217 VAR_056110 p.Val76Gly LB/B rs35465733 - CD200R1 Q8TD46 VAR_014352 p.Lys112Arg LB/B rs2171509 - CD200R1 Q8TD46 VAR_014353 p.Thr144Pro LB/B rs4596117 - CD200R1 Q8TD46 VAR_014354 p.His200Gln LB/B rs9826308 - CD200R1 Q8TD46 VAR_031022 p.Glu335Gln LB/B rs9865242 - CD200R1L Q6Q8B3 VAR_045897 p.Arg113Leu LB/B rs4682119 - CD207 Q9UJ71 VAR_054781 p.Ala55Val LB/B rs10489990 - CD207 Q9UJ71 VAR_054782 p.Pro213Ser LB/B rs17006436 - CD207 Q9UJ71 VAR_054783 p.Val278Ala LB/B rs741326 - CD207 Q9UJ71 VAR_054784 p.Asn288Asp LB/B rs13383830 - CD207 Q9UJ71 VAR_056151 p.Gln136Glu LB/B rs17718987 - CD207 Q9UJ71 VAR_059448 p.Ala300Pro LB/B rs2080391 - CD207 Q9UJ71 VAR_063828 p.Trp264Arg LP/P rs200837270 Birbeck granule deficiency (BIRGD) [MIM:613393] CD209 Q9NNX6 VAR_036689 p.Glu214Asp LB/B rs11465377 - CD209 Q9NNX6 VAR_036690 p.Leu242Val LB/B rs11465380 - CD209 Q9NNX6 VAR_050104 p.Glu168Asp LB/B rs1003686123 - CD209 Q9NNX6 VAR_050105 p.Ala382Ser LB/B rs11465393 - CD22 P20273 VAR_003913 p.Gln152Glu LB/B rs554866571 - CD22 P20273 VAR_003914 p.Ser664Gly LB/B rs17719289 - CD22 P20273 VAR_003915 p.Arg669Cys LB/B rs749980313 - CD22 P20273 VAR_003916 p.Gly745Asp LB/B rs10406069 - CD22 P20273 VAR_014133 p.Ala34Thr LB/B rs201453271 - CD22 P20273 VAR_014134 p.Glu203Lys LB/B rs752024645 - CD22 P20273 VAR_014135 p.Tyr639His LB/B rs1058407 - CD22 P20273 VAR_049903 p.Gly551Arg LB/B rs35715143 - CD226 Q15762 VAR_018632 p.Ser307Gly LB/B rs763361 - CD24 P25063 VAR_016156 p.Ala57Val LB/B rs878859113 - CD24 P25063 VAR_031576 p.Ser44Thr LB/B - - CD244 Q9BZW8 VAR_056036 p.Asn89Asp LB/B rs34846692 - CD244 Q9BZW8 VAR_056037 p.Ser323Phe LB/B rs12064925 - CD248 Q9HCU0 VAR_025013 p.His457Arg LB/B rs3741367 - CD248 Q9HCU0 VAR_036399 p.Leu6Phe US - A colorectal cancer sample CD27 P26842 VAR_016148 p.Ala59Thr LB/B rs25680 - CD27 P26842 VAR_052348 p.His233Arg LB/B rs2532502 - CD27 P26842 VAR_069793 p.Cys53Tyr LP/P rs397514667 Lymphoproliferative syndrome 2 (LPFS2) [MIM:615122] CD276 Q5ZPR3 VAR_049857 p.Pro97Leu LB/B rs7173448 - CD276 Q5ZPR3 VAR_049858 p.Arg111Ser LB/B rs7173476 - CD276 Q5ZPR3 VAR_049859 p.Gln137Leu LB/B rs11574477 - CD276 Q5ZPR3 VAR_049860 p.Thr160Met LB/B rs11574479 - CD276 Q5ZPR3 VAR_049861 p.Arg267His LB/B rs11574483 - CD276 Q5ZPR3 VAR_049862 p.Ala279Thr LB/B rs10083681 - CD276 Q5ZPR3 VAR_049863 p.Pro315Leu LB/B rs148625372 - CD276 Q5ZPR3 VAR_049864 p.Arg329Ser LB/B rs7173476 - CD276 Q5ZPR3 VAR_049865 p.Thr378Met LB/B rs145827704 - CD2AP Q9Y5K6 VAR_033672 p.Asn581Lys LB/B rs34069459 - CD2AP Q9Y5K6 VAR_087609 p.Lys301Met US rs141778404 - CD2AP Q9Y5K6 VAR_087610 p.Thr374Ala LB/B rs138727736 - CD2BP2 O95400 VAR_050772 p.Gly231Asp LB/B rs13330462 - CD2BP2 O95400 VAR_050773 p.Thr262Ile LB/B rs34391305 - CD300A Q9UGN4 VAR_030797 p.Arg111Gln LB/B rs2272111 - CD300C Q08708 VAR_039133 p.Thr71Ile LB/B rs11870245 - CD300E Q496F6 VAR_039129 p.Lys19Thr LB/B rs581157 - CD300E Q496F6 VAR_039130 p.Thr27Ala US rs1278044712 A colorectal cancer sample CD300E Q496F6 VAR_039131 p.Gly158Arg LB/B rs1878061 - CD300LD Q6UXZ3 VAR_059386 p.Ser6Ala LB/B rs493430 - CD300LD Q6UXZ3 VAR_059387 p.Val89Met LB/B rs783239 - CD300LD-AS1 Q96MU5 VAR_029628 p.Arg47Ser LB/B rs493430 - CD300LF Q8TDQ1 VAR_027152 p.Gln218Arg LB/B rs2034310 - CD300LF Q8TDQ1 VAR_039128 p.Val19Ala LB/B rs35489971 - CD300LG Q6UXG3 VAR_035261 p.Asp221Asn LB/B rs17852267 - CD300LG Q6UXG3 VAR_035262 p.Thr228Ala LB/B rs12453522 - CD302 Q8IX05 VAR_050101 p.Arg200Ser LB/B rs34068933 - CD320 Q9NPF0 VAR_047315 p.Gln8Arg LB/B rs2232775 - CD320 Q9NPF0 VAR_047316 p.Gly220Arg LB/B rs2336573 - CD320 Q9NPF0 VAR_077921 p.Ser142Gly LB/B - - CD33 P20138 VAR_028260 p.Arg69Gly LB/B rs2455069 - CD33 P20138 VAR_028261 p.Arg202Trp LB/B rs4082929 - CD33 P20138 VAR_028262 p.Ile242Leu LB/B rs988337 - CD33 P20138 VAR_028263 p.Phe243Leu LB/B rs11882250 - CD33 P20138 VAR_028264 p.Val294Leu LB/B rs2271652 - CD33 P20138 VAR_049904 p.Ala14Val LB/B rs12459419 - CD33 P20138 VAR_049905 p.Trp22Arg LB/B rs35814802 - CD33 P20138 VAR_049906 p.Ser128Asn LB/B rs34919259 - CD33 P20138 VAR_049907 p.Gly304Arg LB/B rs35112940 - CD33 P20138 VAR_049908 p.Thr331Ala LB/B rs35632246 - CD33 P20138 VAR_061319 p.Val267Ile LB/B rs58981829 - CD34 P28906 VAR_050774 p.Ala367Ser LB/B rs28362497 - CD36 P16671 VAR_013918 p.Val154Phe LB/B rs5957 - CD36 P16671 VAR_017913 p.Pro90Ser LP/P rs75326924 Platelet glycoprotein IV deficiency (PG4D) [MIM:608404] CD36 P16671 VAR_017914 p.Glu123Lys LB/B rs183461468 - CD36 P16671 VAR_017915 p.Thr174Ala LB/B rs756525492 - CD36 P16671 VAR_017917 p.Phe254Leu LP/P rs142186404 Platelet glycoprotein IV deficiency (PG4D) [MIM:608404] CD36 P16671 VAR_017918 p.Ile271Thr LB/B rs370072057 - CD36 P16671 VAR_017919 p.Ile413Leu LP/P rs121918035 Platelet glycoprotein IV deficiency (PG4D) [MIM:608404] CD36 P16671 VAR_019049 p.Ser127Leu LB/B rs201765331 - CD36 P16671 VAR_071161 p.Arg386Trp LB/B rs148910227 - CD36 P16671 VAR_071162 p.Thr470Ile LB/B rs200771788 - CD38 P28907 VAR_001323 p.Arg140Trp LB/B rs1800561 - CD3D P04234 VAR_049646 p.Gln147Arg LB/B rs45510201 - CD3G P09693 VAR_049854 p.Val131Phe LB/B rs3753058 - CD4 P01730 VAR_003906 p.Arg265Trp LB/B rs28919570 - CD4 P01730 VAR_023459 p.Lys191Glu LB/B rs28917504 - CD4 P01730 VAR_023460 p.Phe227Ser LB/B rs11064419 - CD40 P25942 VAR_013628 p.Cys83Arg LP/P rs28931586 Immunodeficiency with hyper-IgM 3 (HIGM3) [MIM:606843] CD40 P25942 VAR_018751 p.Ser124Leu LB/B rs11569321 - CD40 P25942 VAR_018752 p.Pro227Ala LB/B rs11086998 - CD40 P25942 VAR_039301 p.Cys26Gln US - Bladder carcinoma cell line Hu549 CD40 P25942 VAR_039302 p.Ser35Gly US rs750234130 Bladder carcinoma cell line Hu549 CD40 P25942 VAR_039303 p.Ser39Thr US - Bladder carcinoma cell line Hu549 CD40 P25942 VAR_077569 p.Cys37Gly LP/P - Immunodeficiency with hyper-IgM 3 (HIGM3) [MIM:606843] CD40LG P29965 VAR_007513 p.Met36Arg LP/P rs104894774 Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007514 p.Ala123Glu LP/P rs104894778 Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007515 p.Val126Ala LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007517 p.Trp140Cys LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007518 p.Trp140Gly LP/P rs104894777 Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007519 p.Trp140Arg LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007520 p.Gly144Glu LP/P rs886039326 Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007521 p.Leu155Pro LP/P rs104894769 Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007522 p.Thr211Asn LP/P rs1569377829 Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007523 p.Gly219Arg LB/B rs148594123 - CD40LG P29965 VAR_007524 p.Gly227Val LP/P rs104894768 Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007526 p.Leu231Ser LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007527 p.Ala235Pro LP/P rs104894771 Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007528 p.Thr254Met LP/P rs193922136 Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017922 p.Thr147Asn LP/P rs1057521127 Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017923 p.Tyr170Cys LP/P rs756468554 Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017924 p.Leu258Ser LP/P rs1569377884 Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017925 p.Gly38Arg LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017926 p.His125Arg LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017927 p.Gln174Arg LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017928 p.Gly257Ser LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017929 p.Gly116Arg LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017930 p.Gly116Ser LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017931 p.Val126Asp LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017932 p.Lys143Thr LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017933 p.Ala173Asp LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017934 p.Thr176Ile LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017935 p.Leu195Pro LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017936 p.Ala208Asp LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017937 p.His224Tyr LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017938 p.Gly226Ala LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017939 p.Val237Glu LP/P - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017940 p.Gly257Asp LP/P rs1477466218 Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] CD44 P16070 VAR_006490 p.Arg46Pro LB/B rs369473842 - CD44 P16070 VAR_021147 p.Lys417Arg LB/B rs9666607 - CD44 P16070 VAR_030325 p.Thr393Met LB/B rs11607491 - CD44 P16070 VAR_030326 p.Ile479Thr LB/B rs1467558 - CD44 P16070 VAR_030327 p.Asp494His LB/B rs12273397 - CD46 P15529 VAR_022262 p.Asp266Asn LB/B rs17006830 - CD46 P15529 VAR_022263 p.Pro324Leu LB/B rs41317833 - CD46 P15529 VAR_022264 p.Ala353Val LB/B rs35366573 - CD46 P15529 VAR_022265 p.Val355Gly LB/B - - CD46 P15529 VAR_026567 p.Ser13Phe LB/B rs138843816 - CD46 P15529 VAR_026568 p.Arg59Gln LB/B rs780693519 - CD46 P15529 VAR_026569 p.Pro165Ser LP/P rs759136081 Hemolytic uremic syndrome, atypical, 2 (AHUS2) [MIM:612922] CD46 P15529 VAR_026570 p.Ser240Pro LP/P rs121909589 Hemolytic uremic syndrome, atypical, 2 (AHUS2) [MIM:612922] CD46 P15529 VAR_035828 p.Cys228Tyr US - A colorectal cancer sample CD46 P15529 VAR_063656 p.Cys35Tyr LP/P rs121909591 Hemolytic uremic syndrome, atypical, 2 (AHUS2) [MIM:612922] CD46 P15529 VAR_063657 p.Trp216Cys LP/P - Hemolytic uremic syndrome, atypical, 2 (AHUS2) [MIM:612922] CD46 P15529 VAR_063658 p.Pro231Arg LP/P rs1271761432 Hemolytic uremic syndrome, atypical, 2 (AHUS2) [MIM:612922] CD48 P09326 VAR_020082 p.Glu102Gln LB/B rs2295615 - CD48 P09326 VAR_049909 p.Leu241Ser LB/B rs16832307 - CD5 P06127 VAR_020411 p.Pro224Leu LB/B rs2241002 - CD5 P06127 VAR_024649 p.His461Arg LB/B rs637186 - CD5 P06127 VAR_058203 p.Ala471Val LB/B rs2229177 - CD52 P31358 VAR_014838 p.Ile41Met LB/B rs17645 - CD52 P31358 VAR_050775 p.Asn40Ser LB/B rs1071849 - CD55 P08174 VAR_001997 p.Arg52Leu LB/B rs28371588 - CD55 P08174 VAR_001998 p.Arg52Pro LB/B rs28371588 - CD55 P08174 VAR_001999 p.Leu82Arg LB/B rs147474393 - CD55 P08174 VAR_002000 p.Ser199Leu LB/B rs1135402914 - CD55 P08174 VAR_002001 p.Ala227Pro LB/B rs60822373 - CD55 P08174 VAR_015884 p.Arg240His LB/B rs199705465 - CD55 P08174 VAR_079373 p.Cys267Ser LP/P rs1135402917 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) [MIM:226300] CD58 P19256 VAR_049885 p.Ser15Gly LB/B rs17426456 - CD59 P13987 VAR_070124 p.Cys89Tyr LP/P rs397514767 Hemolytic anemia, CD59-mediated, with or without polyneuropathy (HACD59) [MIM:612300] CD5L O43866 VAR_033728 p.Asp117Glu LB/B rs11537583 - CD6 P30203 VAR_057202 p.Arg225Trp LB/B rs11230563 - CD6 P30203 VAR_057203 p.Ala271Thr LB/B rs12360861 - CD6 P30203 VAR_057204 p.Ser351Asn LB/B rs34974368 - CD6 P30203 VAR_057205 p.Gly606Ser LB/B rs2074233 - CD6 P30203 VAR_059809 p.Thr217Met LB/B rs11230562 - CD6 P30203 VAR_060790 p.Ala257Val LB/B rs2074225 - CD68 P34810 VAR_016144 p.Gln254Lys LB/B rs9901673 - CD68 P34810 VAR_016145 p.Ala340Thr LB/B rs17607 - CD68 P34810 VAR_049725 p.Ile329Thr LB/B rs35452170 - CD68 P34810 VAR_049726 p.Ala350Thr LB/B rs9901675 - CD7 P09564 VAR_049855 p.Thr113Ala LB/B rs34579511 - CD72 P21854 VAR_033729 p.Pro234Leu LB/B rs34791102 - CD79B P40259 VAR_057833 p.Gly137Ser LP/P rs121912424 Agammaglobulinemia 6, autosomal recessive (AGM6) [MIM:612692] CD82 P27701 VAR_052326 p.Ile241Val LB/B rs1139971 - CD83 Q01151 VAR_033609 p.Arg182Gln LB/B rs2230193 - CD86 P42081 VAR_014650 p.Ala310Thr LB/B rs1129055 - CD86 P42081 VAR_021916 p.Ser170Asn LB/B rs9282642 - CD86 P42081 VAR_021917 p.Asp323Asn LB/B rs9282648 - CD86 P42081 VAR_055003 p.Val185Ile LB/B rs2681417 - CD8A P01732 VAR_021020 p.Gly111Ser LP/P rs121918660 CD8 deficiency, familial (CD8 deficiency) [MIM:608957] CD93 Q9NPY3 VAR_013573 p.Val318Ala LB/B - - CD93 Q9NPY3 VAR_036400 p.Ala220Val US rs138932459 A colorectal cancer sample CD93 Q9NPY3 VAR_050102 p.Pro541Ser LB/B rs3746731 - CD96 P40200 VAR_021928 p.Ala142Pro LB/B rs2276872 - CD96 P40200 VAR_037578 p.Thr280Met LP/P rs119477056 C syndrome (CSYN) [MIM:211750] CD99 P14209 VAR_014733 p.Met166Val LB/B rs4793 - CD99 P14209 VAR_014734 p.Asn173Ile LB/B rs4717 - CDA P32320 VAR_021559 p.Lys27Gln LB/B rs2072671 - CDAN1 Q8IWY9 VAR_017218 p.Asn599Ser LP/P rs120074166 Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] CDAN1 Q8IWY9 VAR_017219 p.Pro672Leu LP/P rs120074167 Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] CDAN1 Q8IWY9 VAR_017220 p.Glu698Lys LP/P - Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] CDAN1 Q8IWY9 VAR_017221 p.Arg714Trp LP/P rs80338696 Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] CDAN1 Q8IWY9 VAR_017222 p.Phe868Ile LP/P rs120074168 Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] CDAN1 Q8IWY9 VAR_017223 p.Val869Met LP/P rs370895637 Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] CDAN1 Q8IWY9 VAR_017224 p.Arg1042Trp LP/P rs80338697 Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] CDAN1 Q8IWY9 VAR_017225 p.Asp1043Val LP/P rs80338698 Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] CDAN1 Q8IWY9 VAR_017226 p.Pro1130Leu LP/P rs80338699 Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] CDAN1 Q8IWY9 VAR_056785 p.Gln596Arg LB/B rs12917189 - CDAN1 Q8IWY9 VAR_056786 p.Arg891Cys LB/B rs8023524 - CDAN1 Q8IWY9 VAR_059602 p.Gln107Leu LB/B rs4265781 - CDC14A Q9UNH5 VAR_019957 p.Arg345Gln LB/B rs28364897 - CDC14A Q9UNH5 VAR_019958 p.Ser589Phe LB/B rs28364923 - CDC14A Q9UNH5 VAR_035655 p.Asp493Tyr US - A colorectal cancer sample CDC14A Q9UNH5 VAR_081128 p.Arg312Gly LP/P rs148737918 Deafness, autosomal recessive, 32, with or without immotile sperm (DFNB32) [MIM:608653] CDC14A Q9UNH5 VAR_081129 p.Arg312Gln LP/P rs369245990 Deafness, autosomal recessive, 32, with or without immotile sperm (DFNB32) [MIM:608653] CDC14A Q9UNH5 VAR_081130 p.Gln320Pro LP/P rs1339709390 Deafness, autosomal recessive, 32, with or without immotile sperm (DFNB32) [MIM:608653] CDC14B O60729 VAR_019959 p.Ile302Thr LB/B rs16911114 - CDC14B O60729 VAR_019960 p.Ile341Thr LB/B rs16911075 - CDC14C A4D256 VAR_038327 p.Pro131Ser LB/B rs1615556 - CDC14C A4D256 VAR_038328 p.Ile189Leu LB/B rs421206 - CDC20 Q12834 VAR_030368 p.Val402Met LB/B rs45443196 - CDC20 Q12834 VAR_030369 p.Arg479Gln LB/B rs45461499 - CDC20 Q12834 VAR_088389 p.Ala211Thr US - Oocyte/zygote/embryo maturation arrest 14 (OZEMA14) [MIM:620276] CDC20 Q12834 VAR_088390 p.Tyr228Cys LP/P - Oocyte/zygote/embryo maturation arrest 14 (OZEMA14) [MIM:620276] CDC20 Q12834 VAR_088392 p.Arg286Ser US - - CDC20 Q12834 VAR_088393 p.Arg296Gln US - Oocyte/zygote/embryo maturation arrest 14 (OZEMA14) [MIM:620276] CDC20 Q12834 VAR_088395 p.Arg322Gln LP/P - Oocyte/zygote/embryo maturation arrest 14 (OZEMA14) [MIM:620276] CDC20 Q12834 VAR_088396 p.Trp385Cys LP/P - Oocyte/zygote/embryo maturation arrest 14 (OZEMA14) [MIM:620276] CDC20 Q12834 VAR_088397 p.Leu439Arg US - Oocyte/zygote/embryo maturation arrest 14 (OZEMA14) [MIM:620276] CDC20B Q86Y33 VAR_043860 p.Thr8Pro LB/B rs173042 - CDC20B Q86Y33 VAR_043861 p.Glu17Lys LB/B rs423074 - CDC20B Q86Y33 VAR_043862 p.Thr97Ser LB/B rs34132993 - CDC20B Q86Y33 VAR_043863 p.Arg121Cys LB/B rs1021580 - CDC20B Q86Y33 VAR_043864 p.Ser496Ala LB/B rs3104230 - CDC20B Q86Y33 VAR_043865 p.Arg503Trp LB/B rs444527 - CDC23 Q9UJX2 VAR_019232 p.Glu78Gln LB/B rs17228304 - CDC23 Q9UJX2 VAR_024675 p.Pro9Leu LB/B rs2231471 - CDC25A P30304 VAR_020932 p.Ser88Phe LB/B rs3731499 - CDC25A P30304 VAR_023532 p.Arg182Gly LB/B rs6771386 - CDC25A P30304 VAR_023533 p.Arg182Trp LB/B rs6771386 - CDC25B P30305 VAR_020933 p.Glu548Lys LB/B rs11570019 - CDC25C P30307 VAR_020146 p.Gly297Arg LB/B rs11567997 - CDC25C P30307 VAR_027922 p.Ser14Asn LB/B rs11567959 - CDC25C P30307 VAR_027923 p.Arg70Cys LB/B rs3734166 - CDC25C P30307 VAR_027924 p.Ser78Asn LB/B rs11567962 - CDC27 P30260 VAR_014489 p.Tyr496His LB/B rs202052665 - CDC27 P30260 VAR_035861 p.Gly270Ala US - A breast cancer sample CDC34 P49427 VAR_021277 p.Asp227His LB/B rs16990650 - CDC37 Q16543 VAR_022220 p.Gly360Glu LB/B rs280528 - CDC37L1 Q7L3B6 VAR_038755 p.Ser291Phe LB/B rs7036014 - CDC40 O60508 VAR_085515 p.Phe502Cys LP/P rs779945821 Pontocerebellar hypoplasia 15 (PCH15) [MIM:619302] CDC42 P60953 VAR_076337 p.Tyr64Cys LP/P rs864309721 Takenouchi-Kosaki syndrome (TKS) [MIM:616737] CDC42BPA Q5VT25 VAR_040830 p.Glu50Lys US - A lung neuroendocrine carcinoma sample CDC42BPA Q5VT25 VAR_040831 p.Thr231Met LB/B rs34614709 - CDC42BPA Q5VT25 VAR_040832 p.Ile537Thr LB/B rs56364976 - CDC42BPA Q5VT25 VAR_040833 p.Ile1418Lys LB/B - - CDC42BPA Q5VT25 VAR_045583 p.Thr780Met LB/B rs56119119 - CDC42BPA Q5VT25 VAR_045584 p.Tyr790Cys LB/B rs34943764 - CDC42BPA Q5VT25 VAR_045585 p.Ala1148Thr LB/B rs56219089 - CDC42BPA Q5VT25 VAR_045586 p.Arg1211His LB/B rs961490 - CDC42BPA Q5VT25 VAR_045587 p.Val1317Ile LB/B rs1929860 - CDC42BPA Q5VT25 VAR_045588 p.Ala1469Val LB/B rs55687355 - CDC42BPA Q5VT25 VAR_045589 p.Thr1618Ala LB/B rs2297417 - CDC42BPA Q5VT25 VAR_045590 p.Ala1699Val LB/B rs2802269 - CDC42BPA Q5VT25 VAR_057104 p.Ala1712Val LB/B rs2802269 - CDC42BPB Q9Y5S2 VAR_025847 p.Ile1077Val LB/B rs34822377 - CDC42BPB Q9Y5S2 VAR_040834 p.Lys500Glu US rs1158962067 A breast infiltrating ductal carcinoma sample CDC42BPB Q9Y5S2 VAR_040835 p.Arg555Gln LB/B rs36001612 - CDC42BPB Q9Y5S2 VAR_040836 p.Arg671Gln LB/B rs55948035 - CDC42BPB Q9Y5S2 VAR_040837 p.Arg876Trp US rs1595472741 A colorectal adenocarcinoma sample CDC42BPB Q9Y5S2 VAR_040837 p.Arg876Trp LP/P rs1595472741 Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) [MIM:619841] CDC42BPB Q9Y5S2 VAR_040838 p.Glu1315Lys US - A lung large cell carcinoma sample CDC42BPB Q9Y5S2 VAR_040839 p.Ser1633Tyr LB/B rs56412851 - CDC42BPB Q9Y5S2 VAR_070886 p.Arg1203Lys LB/B rs146298297 - CDC42BPB Q9Y5S2 VAR_087124 p.Ala142Thr US - Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) [MIM:619841] CDC42BPB Q9Y5S2 VAR_087125 p.Asp175Tyr US - Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) [MIM:619841] CDC42BPB Q9Y5S2 VAR_087126 p.Ile293Met US - Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) [MIM:619841] CDC42BPB Q9Y5S2 VAR_087128 p.Arg867Cys LP/P - Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) [MIM:619841] CDC42BPB Q9Y5S2 VAR_087129 p.Leu871Pro US - Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) [MIM:619841] CDC42BPB Q9Y5S2 VAR_087130 p.Arg876Pro LP/P - Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) [MIM:619841] CDC42BPB Q9Y5S2 VAR_087131 p.Arg1299Gln US - Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) [MIM:619841] CDC42BPB Q9Y5S2 VAR_087132 p.Arg1350Pro US rs1595450125 Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) [MIM:619841] CDC42BPG Q6DT37 VAR_040840 p.Pro168Leu LB/B rs34454471 - CDC42BPG Q6DT37 VAR_040841 p.Ser280Phe US rs770462360 A glioblastoma multiforme sample CDC42BPG Q6DT37 VAR_040842 p.Thr362Pro LB/B rs55688429 - CDC42BPG Q6DT37 VAR_040843 p.Ala537Asp LB/B rs34241745 - CDC42BPG Q6DT37 VAR_057105 p.Gln1135Arg LB/B rs3741395 - CDC42EP2 O14613 VAR_023001 p.Asn176Ser LB/B rs4149839 - CDC42EP2 O14613 VAR_023002 p.Ile191Phe LB/B rs7120634 - CDC45 O75419 VAR_019286 p.Val81Ile LB/B rs13447203 - CDC45 O75419 VAR_019287 p.Val376Met LB/B rs13447263 - CDC45 O75419 VAR_053026 p.Met356Arg LB/B rs17209274 - CDC45 O75419 VAR_080963 p.Gln68Arg LP/P rs879255633 Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] CDC45 O75419 VAR_080964 p.Asn76His LP/P rs879255632 Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] CDC45 O75419 VAR_080965 p.Glu155Gly US rs9606030 Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] CDC45 O75419 VAR_080966 p.Arg157Cys LP/P rs540217942 Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] CDC45 O75419 VAR_080967 p.Asp226Gly LP/P rs754080445 Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] CDC45 O75419 VAR_080968 p.Ser264Tyr US rs151279621 Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] CDC45 O75419 VAR_080969 p.Ala298Val LP/P rs146559223 Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] CDC45 O75419 VAR_080970 p.Pro321Thr US - Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] CDC45 O75419 VAR_080972 p.Pro463Leu US rs751663397 Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] CDC45 O75419 VAR_080973 p.Pro496Leu US rs1376596361 Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] CDC45 O75419 VAR_080974 p.Arg554Trp US rs778665661 Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] CDC5L Q99459 VAR_050181 p.Tyr459Cys LB/B rs11572006 - CDC6 Q99741 VAR_019349 p.Thr238Ala LB/B rs4135010 - CDC6 Q99741 VAR_019350 p.Asp295Asn LB/B rs4135012 - CDC6 Q99741 VAR_019351 p.Thr299Met LB/B rs4135013 - CDC6 Q99741 VAR_019352 p.Arg378His LB/B rs4135016 - CDC6 Q99741 VAR_019353 p.Val441Ile LB/B rs13706 - CDC6 Q99741 VAR_065493 p.Thr323Arg LP/P rs387906842 Meier-Gorlin syndrome 5 (MGORS5) [MIM:613805] CDC7 O00311 VAR_019255 p.Gln23Pro LB/B rs13447459 - CDC7 O00311 VAR_019256 p.Ile99Val LB/B rs13447492 - CDC7 O00311 VAR_019257 p.Gly112Trp LB/B rs13447493 - CDC7 O00311 VAR_019258 p.Phe162Leu LB/B rs13447503 - CDC7 O00311 VAR_019259 p.Lys441Arg LB/B rs13447539 - CDC7 O00311 VAR_040403 p.Ile208Met LB/B rs34979509 - CDC7 O00311 VAR_040404 p.Glu209Asp LB/B rs56327502 - CDC7 O00311 VAR_040405 p.Thr472Ile LB/B rs56381770 - CDC7 O00311 VAR_040406 p.Ser498Ala LB/B rs35055915 - CDC73 Q6P1J9 VAR_024082 p.Leu64Pro LP/P rs121434264 Hyperparathyroidism 1 (HRPT1) [MIM:145000] CDC73 Q6P1J9 VAR_031825 p.Leu384Pro LB/B rs35590728 - CDC73 Q6P1J9 VAR_064927 p.Ala2Ser US - - CDC73 Q6P1J9 VAR_064929 p.Lys34Gln US - - CDC73 Q6P1J9 VAR_064930 p.Ser59Phe US - - CDC73 Q6P1J9 VAR_064931 p.Leu63Pro US rs1060500015 Hyperparathyroidism 1 (HRPT1) [MIM:145000] CDC73 Q6P1J9 VAR_064932 p.Arg91Pro US - - CDC73 Q6P1J9 VAR_064933 p.Leu95Pro US - Hyperparathyroidism 1 (HRPT1) [MIM:145000] CDC73 Q6P1J9 VAR_064934 p.Asn272Ser LB/B rs752383339 - CDC73 Q6P1J9 VAR_064935 p.Arg292Lys US - - CDC73 Q6P1J9 VAR_064936 p.Asp379Asn LP/P rs971586985 Hyperparathyroidism 2 with jaw tumors (HRPT2) [MIM:145001] CDCA2 Q69YH5 VAR_032350 p.Val717Ile LB/B rs4872318 - CDCA2 Q69YH5 VAR_032351 p.Arg884Ser LB/B rs3829009 - CDCA5 Q96FF9 VAR_050777 p.Ser156Tyr LB/B rs34020666 - CDCA7 Q9BWT1 VAR_076578 p.Arg274Cys LP/P rs879253738 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 (ICF3) [MIM:616910] CDCA7 Q9BWT1 VAR_076579 p.Arg274His LP/P rs370384522 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 (ICF3) [MIM:616910] CDCA7 Q9BWT1 VAR_076580 p.Gly294Val US - Immunodeficiency-centromeric instability-facial anomalies syndrome 3 (ICF3) [MIM:616910] CDCA7 Q9BWT1 VAR_076581 p.Arg304His US rs772929976 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 (ICF3) [MIM:616910] CDCA7L Q96GN5 VAR_050776 p.Arg187Ser LB/B rs35281045 - CDCA7L Q96GN5 VAR_083475 p.Asp45Asn LB/B rs937337760 - CDCA8 Q53HL2 VAR_027063 p.Lys12Asn LB/B rs17851453 - CDCP1 Q9H5V8 VAR_025498 p.Gln525Arg LB/B rs3749191 - CDCP1 Q9H5V8 VAR_025499 p.Asp709Gly LB/B rs9874077 - CDCP1 Q9H5V8 VAR_055095 p.Ala673Val LB/B rs35428731 - CDCP2 Q5VXM1 VAR_035162 p.Gly244Arg LB/B rs3766465 - CDH1 P12830 VAR_001306 p.His123Tyr US - A gastric cancer sample CDH1 P12830 VAR_001307 p.Thr193Pro US - A diffuse gastric cancer sample CDH1 P12830 VAR_001309 p.Asn315Ser US - Lobular breast carcinoma CDH1 P12830 VAR_001310 p.Glu336Asp LB/B rs267606712 - CDH1 P12830 VAR_001311 p.Asp370Ala US - A diffuse gastric cancer sample CDH1 P12830 VAR_001314 p.Glu463Gln US - A gastric carcinoma sample CDH1 P12830 VAR_001315 p.Thr470Ile LB/B rs370864592 - CDH1 P12830 VAR_001317 p.Val473Asp US - A diffuse gastric cancer sample CDH1 P12830 VAR_001318 p.Ala592Thr US rs35187787 A thyroid cancer sample CDH1 P12830 VAR_001319 p.Arg598Gln US rs780759537 A gastric cancer sample CDH1 P12830 VAR_001320 p.Ala617Thr LB/B rs33935154 - CDH1 P12830 VAR_001321 p.Leu711Val LB/B rs121964871 - CDH1 P12830 VAR_001322 p.Ser838Gly US rs121964872 An ovarian carcinoma sample CDH1 P12830 VAR_008712 p.Asp244Gly LP/P rs1064794231 Diffuse gastric and lobular breast cancer syndrome (DGLBC) [MIM:137215] CDH1 P12830 VAR_008713 p.Val487Ala LP/P - Diffuse gastric and lobular breast cancer syndrome (DGLBC) [MIM:137215] CDH1 P12830 VAR_013970 p.Ser270Ala LB/B rs587776399 - CDH1 P12830 VAR_013971 p.Thr340Ala LB/B rs116093741 - CDH1 P12830 VAR_021868 p.Leu630Val LB/B rs2276331 - CDH1 P12830 VAR_021869 p.Cys695Arg LB/B rs9282655 - CDH1 P12830 VAR_023357 p.Leu478Pro LB/B rs35520415 - CDH1 P12830 VAR_023358 p.Val832Met LP/P rs35572355 Diffuse gastric and lobular breast cancer syndrome (DGLBC) [MIM:137215] CDH1 P12830 VAR_023359 p.Glu880Lys LB/B rs34507583 - CDH1 P12830 VAR_033026 p.Met282Ile US rs200932258 A breast cancer sample CDH1 P12830 VAR_033027 p.Asp777Asn US rs372989292 A breast cancer sample CDH1 P12830 VAR_048500 p.Asp72Asn LB/B rs35606263 - CDH1 P12830 VAR_048501 p.Ile393Asn LB/B rs34466743 - CDH1 P12830 VAR_048502 p.Val473Ile LB/B rs36087757 - CDH1 P12830 VAR_055431 p.Ala634Val LB/B rs121964878 - CDH1 P12830 VAR_079392 p.Asp254Tyr LP/P rs1555515445 Blepharocheilodontic syndrome 1 (BCDS1) [MIM:119580] CDH1 P12830 VAR_079393 p.Asp257Val LP/P - Blepharocheilodontic syndrome 1 (BCDS1) [MIM:119580] CDH10 Q9Y6N8 VAR_028751 p.Ser413Phe LB/B rs1395027 - CDH10 Q9Y6N8 VAR_036102 p.Val371Leu US - A breast cancer sample CDH11 P55287 VAR_031945 p.Thr255Met LB/B rs35195 - CDH11 P55287 VAR_031946 p.Met275Ile LB/B rs1130821 - CDH11 P55287 VAR_031947 p.Ser373Ala LB/B rs35213 - CDH11 P55287 VAR_086894 p.Trp55Ser LP/P - Teebi hypertelorism syndrome 2 (TBHS2) [MIM:619736] CDH11 P55287 VAR_086895 p.Glu140Lys LP/P - Teebi hypertelorism syndrome 2 (TBHS2) [MIM:619736] CDH11 P55287 VAR_086896 p.Asp260Glu LP/P - Teebi hypertelorism syndrome 2 (TBHS2) [MIM:619736] CDH11 P55287 VAR_086897 p.Asp260Asn LP/P - Teebi hypertelorism syndrome 2 (TBHS2) [MIM:619736] CDH11 P55287 VAR_086898 p.Asn262Ile LP/P - Teebi hypertelorism syndrome 2 (TBHS2) [MIM:619736] CDH11 P55287 VAR_086899 p.Pro266Leu LP/P rs1426094439 Teebi hypertelorism syndrome 2 (TBHS2) [MIM:619736] CDH11 P55287 VAR_086900 p.Glu279Gln LP/P - Teebi hypertelorism syndrome 2 (TBHS2) [MIM:619736] CDH11 P55287 VAR_086901 p.Gly327Trp LP/P - Teebi hypertelorism syndrome 2 (TBHS2) [MIM:619736] CDH11 P55287 VAR_086902 p.Val374Glu LP/P - Teebi hypertelorism syndrome 2 (TBHS2) [MIM:619736] CDH12 P55289 VAR_048505 p.Val68Met LB/B rs4371716 - CDH12 P55289 VAR_048506 p.Ile284Val LB/B rs17328673 - CDH12 P55289 VAR_048507 p.Ile475Thr LB/B rs12108814 - CDH13 P55290 VAR_030632 p.Leu121Ser LB/B rs7197352 - CDH13 P55290 VAR_065747 p.Arg65Cys LB/B rs368685803 - CDH13 P55290 VAR_065748 p.Ala103Val LB/B rs199539898 - CDH13 P55290 VAR_065749 p.Gly113Arg LB/B rs183971768 - CDH13 P55290 VAR_065750 p.Arg246Trp LB/B rs377210458 - CDH13 P55290 VAR_065751 p.Glu367Gln LB/B rs200000145 - CDH13 P55290 VAR_065752 p.Ala376Thr LB/B rs35549391 - CDH13 P55290 VAR_065753 p.Leu643Arg LB/B rs34106627 - CDH15 P55291 VAR_054966 p.Val8Leu US rs567903921 Intellectual developmental disorder, autosomal dominant 3 (MRD3) [MIM:612580] CDH15 P55291 VAR_054967 p.Arg60Cys LP/P rs121434539 Intellectual developmental disorder, autosomal dominant 3 (MRD3) [MIM:612580] CDH15 P55291 VAR_054968 p.Arg92Trp LP/P rs121434540 Intellectual developmental disorder, autosomal dominant 3 (MRD3) [MIM:612580] CDH15 P55291 VAR_054969 p.Ala122Val LP/P rs121434541 Intellectual developmental disorder, autosomal dominant 3 (MRD3) [MIM:612580] CDH16 O75309 VAR_021870 p.Leu191Phe LB/B rs2271024 - CDH16 O75309 VAR_021871 p.His257Tyr LB/B rs2271023 - CDH16 O75309 VAR_061058 p.Arg717His LB/B rs34621310 - CDH17 Q12864 VAR_031694 p.Ile446Thr LB/B rs1131829 - CDH17 Q12864 VAR_031695 p.Glu734Asp LB/B rs1051623 - CDH17 Q12864 VAR_031696 p.Glu739Ala LB/B rs1051624 - CDH17 Q12864 VAR_055567 p.Lys115Glu LB/B rs2243518 - CDH2 P19022 VAR_028254 p.Ala21Thr LB/B rs17495042 - CDH2 P19022 VAR_028255 p.Ala118Thr LB/B rs17445840 - CDH2 P19022 VAR_028256 p.Ser196Thr LB/B rs1041970 - CDH2 P19022 VAR_028257 p.Ile212Leu LB/B rs1041972 - CDH2 P19022 VAR_028258 p.Asn845Ser LB/B rs2289664 - CDH2 P19022 VAR_048503 p.Thr454Ala LB/B rs17857112 - CDH2 P19022 VAR_084438 p.Val162Asp US rs2013111940 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) [MIM:618929] CDH2 P19022 VAR_084439 p.Gln229Pro US - Arrhythmogenic right ventricular dysplasia, familial, 14 (ARVD14) [MIM:618920] CDH2 P19022 VAR_084440 p.Asp353Asn LP/P rs1599017933 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) [MIM:618929] CDH2 P19022 VAR_084441 p.Asp407Asn US rs568089577 Arrhythmogenic right ventricular dysplasia, familial, 14 (ARVD14) [MIM:618920] CDH2 P19022 VAR_084442 p.Asp525Gly US - Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) [MIM:618929] CDH2 P19022 VAR_084443 p.Asp597Asn LP/P rs1599011050 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) [MIM:618929] CDH2 P19022 VAR_084444 p.Asp597Tyr LP/P rs1599011050 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) [MIM:618929] CDH2 P19022 VAR_084445 p.Asn601Thr LP/P rs201775968 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) [MIM:618929] CDH2 P19022 VAR_084446 p.Pro603Ser US - Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) [MIM:618929] CDH2 P19022 VAR_084447 p.Cys613Trp LP/P rs754880999 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) [MIM:618929] CDH2 P19022 VAR_084448 p.Asp627Gly LP/P rs1599010918 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) [MIM:618929] CDH2 P19022 VAR_084449 p.Tyr676Cys LP/P rs199984052 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) [MIM:618929] CDH2 P19022 VAR_087507 p.His150Tyr LP/P - Attention deficit-hyperactivity disorder 8 (ADHD8) [MIM:619957] CDH20 Q9HBT6 VAR_036103 p.Met228Ile US - A breast cancer sample CDH20 Q9HBT6 VAR_036104 p.Pro416Thr US - A breast cancer sample CDH20 Q9HBT6 VAR_036105 p.Gln746His US - A breast cancer sample CDH20 Q9HBT6 VAR_039119 p.Pro328His LB/B rs1943330 - CDH20 Q9HBT6 VAR_039120 p.Gln371Arg LB/B rs35923922 - CDH20 Q9HBT6 VAR_039121 p.Pro391Leu LB/B rs17068463 - CDH23 Q9H251 VAR_012166 p.Arg3Cys LB/B rs7902757 - CDH23 Q9H251 VAR_012167 p.Gly490Ala LB/B rs1227049 - CDH23 Q9H251 VAR_012168 p.Ser496Asn LB/B rs10999947 - CDH23 Q9H251 VAR_012169 p.Asp990Asn LP/P rs771766431 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_012170 p.Ala1222Thr LB/B rs41281316 - CDH23 Q9H251 VAR_012172 p.Arg1349Cys LB/B rs41281318 - CDH23 Q9H251 VAR_012173 p.Asn1351Asp LB/B rs1227065 - CDH23 Q9H251 VAR_012174 p.Gln1496His LP/P rs121908347 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_012175 p.Ala1575Thr LB/B rs1227051 - CDH23 Q9H251 VAR_012176 p.Thr1671Ser LB/B rs749678546 - CDH23 Q9H251 VAR_012177 p.Val1675Ile LB/B rs17712523 - CDH23 Q9H251 VAR_012178 p.Arg1746Gln LP/P rs111033270 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_012179 p.Arg1804Gln LB/B rs3802711 - CDH23 Q9H251 VAR_012180 p.Thr1999Ser LB/B rs11592462 - CDH23 Q9H251 VAR_012181 p.Glu2044Lys LB/B rs10466026 - CDH23 Q9H251 VAR_012182 p.Asp2045Asn LP/P rs121908348 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_012183 p.Asp2202Asn LP/P rs121908349 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_012184 p.Arg2358Gln LB/B rs4747194 - CDH23 Q9H251 VAR_012185 p.Pro2380Leu LB/B rs4747195 - CDH23 Q9H251 VAR_012186 p.Glu2588Gln LB/B rs41281338 - CDH23 Q9H251 VAR_012187 p.Ile2950Asn LP/P rs752937051 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_012188 p.Arg2956Cys LP/P rs751367894 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_012189 p.Pro3059Thr LP/P rs780514498 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_012190 p.Phe3125Leu LB/B rs45583140 - CDH23 Q9H251 VAR_024030 p.Ala366Thr LP/P rs143282422 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_024031 p.Thr1209Ala LP/P rs41281314 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_024032 p.Arg1507Gln LP/P rs373480195 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_024033 p.Arg3189Trp LP/P rs121908353 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_024033 p.Arg3189Trp LP/P rs121908353 Usher syndrome 1D/F (USH1DF) [MIM:601067] CDH23 Q9H251 VAR_024034 p.Ser3245Phe LP/P - Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_027317 p.Asp124Gly LP/P rs751192273 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027318 p.Glu247Lys LP/P - Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_027319 p.Asn452Ser LP/P rs375646885 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027320 p.Leu480Gln LP/P rs767928788 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027321 p.Ala484Pro LP/P - Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_027322 p.Arg582Gln LP/P rs200263980 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027323 p.Arg1060Trp LP/P rs201536811 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027324 p.Gly1186Asp LP/P - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027325 p.Pro1206Arg LP/P - Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_027326 p.Asp1341Asn LP/P rs121908351 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027327 p.Arg1437Gln LB/B rs56181447 - CDH23 Q9H251 VAR_027328 p.Ala1586Pro LP/P rs573737471 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027329 p.Glu1595Lys LP/P rs778204574 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027330 p.Val1620Met LB/B rs41281330 - CDH23 Q9H251 VAR_027331 p.Asp1846Asn LP/P rs746323558 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027332 p.Thr1887Ile LB/B rs397517340 - CDH23 Q9H251 VAR_027333 p.Phe1888Ser LP/P rs121908352 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027334 p.Gly2017Ser LP/P rs183431253 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_027335 p.Arg2066Gln LB/B rs201887949 - CDH23 Q9H251 VAR_027336 p.Asp2148Asn LP/P rs111033271 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027337 p.Val2283Ile LB/B rs41281334 - CDH23 Q9H251 VAR_027338 p.Asp2376Asn LB/B rs9663920 - CDH23 Q9H251 VAR_027339 p.Arg2465Trp LP/P rs760879110 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027340 p.Ser2517Gly LP/P rs759093040 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_027341 p.Arg2608His LP/P rs202052174 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027342 p.Gly2744Ser LP/P rs376189742 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_027343 p.Arg2833Gly LP/P rs760130862 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_027344 p.Val2933Glu LB/B - - CDH23 Q9H251 VAR_027345 p.Asp2954Asn LB/B rs756793995 - CDH23 Q9H251 VAR_027346 p.Asn2962Ser LB/B - - CDH23 Q9H251 VAR_027347 p.Arg3175His LP/P rs140884994 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046404 p.Pro240Leu LP/P rs121908354 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_046405 p.Arg301Gln LP/P rs121908355 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_046406 p.Val746Ile LB/B rs550384315 - CDH23 Q9H251 VAR_046407 p.His755Tyr LP/P rs181255269 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046408 p.Ser944Gly LB/B rs188098974 - CDH23 Q9H251 VAR_046409 p.Glu960Lys LB/B rs111033458 - CDH23 Q9H251 VAR_046410 p.Val1090Ile LP/P rs368487578 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046411 p.Asn1098Ser LP/P rs41281310 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046412 p.Arg1236Gln LB/B rs186990940 - CDH23 Q9H251 VAR_046413 p.Asn1282Ser LB/B rs149073355 - CDH23 Q9H251 VAR_046414 p.Arg1417Trp LP/P rs756231829 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_046415 p.Ile1520Met LB/B - - CDH23 Q9H251 VAR_046416 p.Met1574Thr LB/B rs1564769834 - CDH23 Q9H251 VAR_046417 p.Val1711Ile LB/B rs181611778 - CDH23 Q9H251 VAR_046418 p.Gln1716Pro LP/P rs758382198 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_046419 p.Pro1788Leu LP/P rs564555435 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046420 p.Val1807Met LB/B rs143993990 - CDH23 Q9H251 VAR_046421 p.Ser1876Asn LB/B rs983665281 - CDH23 Q9H251 VAR_046422 p.Val1908Ile LB/B rs368828743 - CDH23 Q9H251 VAR_046423 p.Arg1912Trp LP/P rs397517344 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046424 p.Asp1930Asn LP/P - Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046425 p.Arg2029Trp LP/P rs750880909 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_046426 p.Ile2125Met LB/B rs16929354 - CDH23 Q9H251 VAR_046427 p.Arg2171Cys LB/B rs781698111 - CDH23 Q9H251 VAR_046428 p.Gln2227Pro LB/B rs778453484 - CDH23 Q9H251 VAR_046429 p.Asp2376Val LP/P - Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046430 p.Leu2473Pro LB/B rs1589429497 - CDH23 Q9H251 VAR_046431 p.Arg2489His LB/B rs141986620 - CDH23 Q9H251 VAR_046432 p.Thr2530Ile LP/P rs781406146 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046433 p.Ile2669Val LB/B - - CDH23 Q9H251 VAR_046434 p.Gly2771Ser LP/P rs201076440 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046435 p.Phe2801Val LB/B rs3802707 - CDH23 Q9H251 VAR_046436 p.Ala2853Gln US - - CDH23 Q9H251 VAR_046437 p.Val2968Ala LP/P rs765847991 Usher syndrome 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046438 p.Arg3175Cys LB/B rs770796134 - CDH23 Q9H251 VAR_071407 p.Asp160Asn LB/B rs1057519500 - CDH23 Q9H251 VAR_071408 p.Asn342Ser LP/P rs1451062499 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_071409 p.Ala361Ser LB/B rs774524441 - CDH23 Q9H251 VAR_071410 p.Val424Met LB/B rs2305207 - CDH23 Q9H251 VAR_071411 p.Asp428Asn LB/B rs188376296 - CDH23 Q9H251 VAR_071412 p.Val803Ile LB/B - - CDH23 Q9H251 VAR_071413 p.Glu956Lys LP/P rs756147087 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_071414 p.Arg964Gln LB/B rs376560330 - CDH23 Q9H251 VAR_071415 p.Arg1010His LB/B rs370107953 - CDH23 Q9H251 VAR_071416 p.Gly1118Ser LB/B rs562052236 - CDH23 Q9H251 VAR_071417 p.Val1335Ala LB/B rs1364542092 - CDH23 Q9H251 VAR_071418 p.Thr1368Met LP/P rs762247872 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_071419 p.Ser1415Ile LB/B - - CDH23 Q9H251 VAR_071420 p.Ala1443Gly LB/B - - CDH23 Q9H251 VAR_071421 p.Arg1588Trp LB/B rs137937502 - CDH23 Q9H251 VAR_071422 p.Asp1626Ala LP/P rs1554871816 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_071423 p.Asp1806Glu LB/B rs74145660 - CDH23 Q9H251 VAR_071424 p.Ala2130Val LB/B - - CDH23 Q9H251 VAR_071425 p.Asn2287Lys LP/P - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_071426 p.Glu2438Lys LP/P rs1264310782 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_071427 p.Met2531Val LB/B rs569138025 - CDH23 Q9H251 VAR_071428 p.Gly2912Ser LB/B rs1381655860 - CDH23 Q9H251 VAR_071429 p.Ala3080Thr LB/B rs369395479 - CDH23 Q9H251 VAR_072661 p.Glu192Gln LB/B rs199514829 - CDH23 Q9H251 VAR_072662 p.Met3062Thr LB/B rs770888523 - CDH23 Q9H251 VAR_079747 p.Val187Ile LB/B rs369624952 - CDH23 Q9H251 VAR_080381 p.Arg1379Leu LP/P rs767004225 Pituitary adenoma 5, multiple types (PITA5) [MIM:617540] CDH23 Q9H251 VAR_080382 p.Arg2115His US rs1270566026 Pituitary adenoma 5, multiple types (PITA5) [MIM:617540] CDH23 Q9H251 VAR_080383 p.Arg3138Trp US rs1052484950 Pituitary adenoma 5, multiple types (PITA5) [MIM:617540] CDH23 Q9H251 VAR_080384 p.Asp3296Asn US rs372388344 Pituitary adenoma 5, multiple types (PITA5) [MIM:617540] CDH26 Q8IXH8 VAR_055568 p.Ile144Thr LB/B rs6015609 - CDH26 Q8IXH8 VAR_055569 p.Arg301Gly LB/B rs11086690 - CDH26 Q8IXH8 VAR_055570 p.Val448Ala LB/B rs34866303 - CDH26 Q8IXH8 VAR_055571 p.Pro479Leu LB/B rs6071067 - CDH26 Q8IXH8 VAR_055572 p.Val615Leu LB/B rs194998 - CDH3 P22223 VAR_015422 p.Arg503His LP/P rs121434542 Hypotrichosis congenital with juvenile macular dystrophy (HJMD) [MIM:601553] CDH3 P22223 VAR_031929 p.Val237Met LB/B rs17854171 - CDH3 P22223 VAR_031930 p.Arg477His LB/B rs34494880 - CDH3 P22223 VAR_031931 p.Gln563His LB/B rs1126933 - CDH3 P22223 VAR_033010 p.Asn322Ile LP/P rs121434543 Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS) [MIM:225280] CDH4 P55283 VAR_033699 p.Lys625Arg LB/B rs6142884 - CDH4 P55283 VAR_048504 p.Ala141Val LB/B rs34937312 - CDH5 P33151 VAR_028003 p.Ile503Thr LB/B rs16956504 - CDH5 P33151 VAR_028004 p.Ile517Thr LB/B rs1049970 - CDH7 Q9ULB5 VAR_060247 p.Asn576Ser LB/B rs2291343 - CDH7 Q9ULB5 VAR_061057 p.Asp370Glu LB/B rs2306675 - CDH9 Q9ULB4 VAR_029799 p.Tyr6Cys LB/B rs2288467 - CDH9 Q9ULB4 VAR_029800 p.Ala38Val LB/B rs2288466 - CDHR1 Q96JP9 VAR_038744 p.His53Gln LB/B rs12781048 - CDHR1 Q96JP9 VAR_038745 p.Ala212Thr LB/B rs200880106 - CDHR1 Q96JP9 VAR_038746 p.Ala243Val LB/B rs7086200 - CDHR1 Q96JP9 VAR_038747 p.Pro532Ala LB/B rs143662988 - CDHR1 Q96JP9 VAR_075501 p.Pro574Ala LP/P - Cone-rod dystrophy 15 (CORD15) [MIM:613660] CDHR1 Q96JP9 VAR_080429 p.Thr716Ser US - - CDHR1 Q96JP9 VAR_083318 p.Thr171Ser LB/B rs759855253 - CDHR2 Q9BYE9 VAR_021548 p.Leu1164Met LB/B rs17078347 - CDHR2 Q9BYE9 VAR_046695 p.Gln107His LB/B rs6886860 - CDHR2 Q9BYE9 VAR_046696 p.Ala415Gly LB/B rs3762960 - CDHR2 Q9BYE9 VAR_046697 p.Val424Ala LB/B rs11134982 - CDHR2 Q9BYE9 VAR_046698 p.Leu766Pro LB/B rs752138 - CDHR2 Q9BYE9 VAR_046699 p.Thr901Met LB/B rs35018750 - CDHR2 Q9BYE9 VAR_046700 p.Val948Met LB/B rs3749625 - CDHR2 Q9BYE9 VAR_046701 p.Thr1128Met LB/B rs2291442 - CDHR2 Q9BYE9 VAR_054148 p.Pro1004Leu LB/B rs371676123 - CDHR3 Q6ZTQ4 VAR_035228 p.Val55Met LB/B rs35008315 - CDHR3 Q6ZTQ4 VAR_035229 p.Gln61His LB/B rs34426483 - CDHR3 Q6ZTQ4 VAR_035230 p.Cys529Tyr LB/B rs6967330 - CDHR4 A6H8M9 VAR_039109 p.Arg5Lys LB/B rs13072748 - CDHR5 Q9HBB8 VAR_017920 p.Arg357Ser LB/B rs2246614 - CDHR5 Q9HBB8 VAR_017921 p.Asp389Asn LB/B rs2306066 - CDHR5 Q9HBB8 VAR_059192 p.Cys702Ser LB/B rs2740379 - CDHR5 Q9HBB8 VAR_060412 p.Gln165Pro LB/B rs2740374 - CDHR5 Q9HBB8 VAR_060413 p.Pro521Ser LB/B rs2740375 - CDIN1 Q9Y2V0 VAR_059622 p.Leu73Val LB/B rs3784678 - CDIN1 Q9Y2V0 VAR_070876 p.Tyr94Cys LP/P rs587777101 Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631] CDIN1 Q9Y2V0 VAR_070877 p.Leu178Gln LP/P rs587777100 Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631] CDIN1 Q9Y2V0 VAR_082037 p.Pro20Arg US - Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631] CDIN1 Q9Y2V0 VAR_082038 p.Tyr94Ser LP/P rs587777101 Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631] CDIN1 Q9Y2V0 VAR_082039 p.His230Pro LP/P - Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631] CDIN1 Q9Y2V0 VAR_082040 p.Tyr236Cys US rs768744226 Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631] CDIN1 Q9Y2V0 VAR_086958 p.Leu136Val US - Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631] CDIN1 Q9Y2V0 VAR_086959 p.Tyr247Cys US - Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631] CDIN1 Q9Y2V0 VAR_086960 p.Ile273Thr US - Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631] CDIPT O14735 VAR_048734 p.Arg199Cys LB/B rs1802002 - CDK10 Q15131 VAR_041983 p.Pro96Leu LB/B rs55819627 - CDK10 Q15131 VAR_041984 p.Asn168Ser LB/B rs56340740 - CDK10 Q15131 VAR_041985 p.Arg342His LB/B rs55757604 - CDK10 Q15131 VAR_041986 p.Cys358Tyr LB/B rs56242003 - CDK11A Q9UQ88 VAR_031716 p.Arg93Trp LB/B rs1059831 - CDK11A Q9UQ88 VAR_031717 p.Leu402Ser LB/B rs1059828 - CDK11A Q9UQ88 VAR_060152 p.Cys57Arg LB/B rs1059832 - CDK11A Q9UQ88 VAR_060153 p.Val658Ala LB/B rs866149312 - CDK11A Q9UQ88 VAR_062200 p.Ser92Pro LB/B rs7531938 - CDK11B P21127 VAR_041958 p.Arg57Cys LB/B rs752740049 - CDK11B P21127 VAR_041959 p.Arg201Trp LB/B rs1557687207 - CDK11B P21127 VAR_041960 p.Ser414Leu LB/B rs1241694892 - CDK11B P21127 VAR_041961 p.Ile463Val LB/B - - CDK11B P21127 VAR_041962 p.Leu601Gln LB/B rs200190129 - CDK11B P21127 VAR_041963 p.Lys641Asn LB/B rs1059815 - CDK11B P21127 VAR_041964 p.Ala670Val LB/B rs1059811 - CDK11B P21127 VAR_045577 p.Val452Ala LB/B - - CDK11B P21127 VAR_045578 p.Gly506Ser LB/B - - CDK11B P21127 VAR_057775 p.Arg93Trp LB/B rs1059831 - CDK11B P21127 VAR_062199 p.Arg109Cys LB/B rs1059830 - CDK12 Q9NYV4 VAR_041968 p.Pro530Ala LB/B rs56121596 - CDK12 Q9NYV4 VAR_041969 p.Arg912His US - A colorectal adenocarcinoma sample CDK12 Q9NYV4 VAR_041970 p.Leu1189Gln LB/B rs56362165 - CDK12 Q9NYV4 VAR_041971 p.Pro1275Leu LB/B rs34070318 - CDK13 Q14004 VAR_022381 p.Pro356Ala LB/B rs17537669 - CDK13 Q14004 VAR_022382 p.Leu403Phe LB/B rs3735137 - CDK13 Q14004 VAR_022383 p.Arg410Gln LB/B rs17496261 - CDK13 Q14004 VAR_022384 p.Thr500Ala LB/B rs3735135 - CDK13 Q14004 VAR_022385 p.Ser624Gly LB/B rs17496275 - CDK13 Q14004 VAR_022386 p.Arg700Leu LB/B rs1057000 - CDK13 Q14004 VAR_022387 p.Val1062Met LB/B rs17496712 - CDK13 Q14004 VAR_041965 p.Thr494Ala LB/B rs34624759 - CDK13 Q14004 VAR_041966 p.Thr670Arg LB/B rs34775357 - CDK13 Q14004 VAR_041967 p.Val1170Met LB/B rs3204309 - CDK13 Q14004 VAR_053926 p.Ser340Phe LB/B rs13622 - CDK13 Q14004 VAR_066526 p.Gln103Arg US - - CDK13 Q14004 VAR_078598 p.Gly714Arg LP/P rs1057519633 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360] CDK13 Q14004 VAR_078599 p.Gly717Arg LP/P rs1057519632 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360] CDK13 Q14004 VAR_078600 p.Arg751Gln LP/P rs1057519634 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360] CDK13 Q14004 VAR_078601 p.Asn842Ser LP/P rs878853160 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360] CDK13 Q14004 VAR_079422 p.Lys734Glu LP/P rs1064795731 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360] CDK13 Q14004 VAR_079423 p.Asn842Asp LP/P rs1554333853 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360] CDK14 O94921 VAR_046765 p.Met432Ile US rs773301216 An ovarian mucinous carcinoma CDK14 O94921 VAR_046766 p.Ser463Arg LB/B rs35643773 - CDK15 Q96Q40 VAR_042016 p.Arg64Gly LB/B rs34776344 - CDK15 Q96Q40 VAR_042017 p.Lys93Glu US - A renal clear cell carcinoma sample CDK15 Q96Q40 VAR_042018 p.Gln127Arg LB/B rs56135556 - CDK15 Q96Q40 VAR_042019 p.Thr255Ile LB/B rs34851370 - CDK15 Q96Q40 VAR_042020 p.Glu276Asp US rs1490814436 A breast infiltrating ductal carcinoma sample CDK17 Q00537 VAR_064743 p.Thr214Ile LB/B rs764448325 - CDK18 Q07002 VAR_047802 p.Gly48Ser LB/B rs35134237 - CDK18 Q07002 VAR_047803 p.Gly67Arg LB/B rs4623769 - CDK18 Q07002 VAR_047804 p.Thr166Met LB/B rs17850752 - CDK19 Q9BWU1 VAR_084392 p.Gly28Ala LP/P rs1783518890 Developmental and epileptic encephalopathy 87 (DEE87) [MIM:618916] CDK19 Q9BWU1 VAR_084393 p.Gly28Arg LP/P - Developmental and epileptic encephalopathy 87 (DEE87) [MIM:618916] CDK19 Q9BWU1 VAR_084394 p.Tyr32Cys LP/P rs1783517622 Developmental and epileptic encephalopathy 87 (DEE87) [MIM:618916] CDK19 Q9BWU1 VAR_084395 p.Tyr32His LP/P rs1236246272 Developmental and epileptic encephalopathy 87 (DEE87) [MIM:618916] CDK19 Q9BWU1 VAR_084396 p.Thr196Ala LP/P rs1779473650 Developmental and epileptic encephalopathy 87 (DEE87) [MIM:618916] CDK19 Q9BWU1 VAR_084397 p.Phe197Leu LP/P rs1779473436 Developmental and epileptic encephalopathy 87 (DEE87) [MIM:618916] CDK19 Q9BWU1 VAR_084398 p.Trp198Cys LP/P rs1779473213 Developmental and epileptic encephalopathy 87 (DEE87) [MIM:618916] CDK19 Q9BWU1 VAR_084399 p.Arg200Trp LP/P rs1779472995 Developmental and epileptic encephalopathy 87 (DEE87) [MIM:618916] CDK2 P24941 VAR_016157 p.Tyr15Ser LB/B rs3087335 - CDK2 P24941 VAR_019988 p.Thr290Ser LB/B rs2069413 - CDK2 P24941 VAR_041972 p.Pro45Leu US - A glioblastoma multiforme sample CDK2 P24941 VAR_053927 p.Val18Leu LB/B rs11554376 - CDK20 Q8IZL9 VAR_024762 p.Ser86Leu LB/B rs28364953 - CDK20 Q8IZL9 VAR_024763 p.Ala137Thr LB/B rs28364955 - CDK20 Q8IZL9 VAR_024764 p.Lys281Arg LB/B rs28364963 - CDK20 Q8IZL9 VAR_041957 p.Ser106Asn LB/B rs41286029 - CDK3 Q00526 VAR_021101 p.Thr226Ile LB/B rs2069532 - CDK3 Q00526 VAR_021102 p.Met264Thr LB/B rs17884251 - CDK3 Q00526 VAR_041973 p.Ser106Asn US - A glioblastoma multiforme sample CDK3 Q00526 VAR_041974 p.Ile124Thr LB/B rs34918446 - CDK3 Q00526 VAR_041975 p.Arg214His LB/B rs34670267 - CDK4 P11802 VAR_006200 p.Arg24Cys LP/P rs11547328 Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] CDK4 P11802 VAR_006201 p.Arg24His LP/P rs104894340 Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] CDK4 P11802 VAR_021152 p.Asn41Ser LP/P rs144890720 Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] CDK4 P11802 VAR_029153 p.Arg82Gln LB/B rs3211612 - CDK4 P11802 VAR_041976 p.Arg122His LB/B rs34386532 - CDK5 Q00535 VAR_041977 p.Glu225Asp LB/B rs35186917 - CDK5RAP2 Q96SN8 VAR_017443 p.Glu289Gln LB/B rs4836822 - CDK5RAP2 Q96SN8 VAR_017444 p.Val1540Leu LB/B rs4837768 - CDK5RAP2 Q96SN8 VAR_032426 p.Arg1045Thr LB/B rs3780679 - CDK5RAP2 Q96SN8 VAR_056831 p.Ala183Pro LB/B rs13287734 - CDK5RAP2 Q96SN8 VAR_056832 p.Arg1607Ser LB/B rs16909747 - CDK5RAP2 Q96SN8 VAR_059616 p.Asn1330Ile LB/B rs7875294 - CDK5RAP3 Q96JB5 VAR_048688 p.Leu324Val LB/B rs35054799 - CDK6 Q00534 VAR_041978 p.Asp110Asn LB/B rs35654944 - CDK6 Q00534 VAR_041979 p.Pro199Leu US - A metastatic melanoma sample CDK6 Q00534 VAR_072638 p.Ala197Thr LP/P rs606231255 Microcephaly 12, primary, autosomal recessive (MCPH12) [MIM:616080] CDK7 P50613 VAR_023118 p.Gly163Ala LB/B - - CDK7 P50613 VAR_023119 p.Thr285Met LB/B rs34584424 - CDK8 P49336 VAR_041980 p.Asp189Asn US - A lung neuroendocrine carcinoma sample CDK8 P49336 VAR_041981 p.Arg424Cys US - A colorectal adenocarcinoma sample CDK8 P49336 VAR_083786 p.Val27Leu LP/P - Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) [MIM:618748] CDK8 P49336 VAR_083787 p.Arg29Gly LP/P rs1593218885 Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) [MIM:618748] CDK8 P49336 VAR_083788 p.Gly30Ser LP/P rs1593218890 Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) [MIM:618748] CDK8 P49336 VAR_083789 p.Ser62Leu LP/P rs1565977796 Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) [MIM:618748] CDK8 P49336 VAR_083790 p.Phe97Leu US - Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) [MIM:618748] CDK8 P49336 VAR_083791 p.Arg178Gln LP/P rs1418353379 Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) [MIM:618748] CDK8 P49336 VAR_083792 p.Val193Gly LP/P rs1875421510 Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) [MIM:618748] CDK8 P49336 VAR_083793 p.Ile223Met LP/P rs1593310364 Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) [MIM:618748] CDK9 P50750 VAR_013456 p.Gly231Ala LB/B - - CDK9 P50750 VAR_041982 p.Phe59Leu LB/B rs55640715 - CDK9 P50750 VAR_082140 p.Arg225Cys US rs767418586 - CDKAL1 Q5VV42 VAR_052705 p.Lys484Arg LB/B rs9460608 - CDKL1 Q00532 VAR_020576 p.Leu66Pro LB/B rs11570814 - CDKL1 Q00532 VAR_020577 p.Gln274Glu LB/B rs7161563 - CDKL1 Q00532 VAR_020578 p.Leu329Val LB/B rs9323183 - CDKL1 Q00532 VAR_020579 p.Lys341Asn LB/B rs770928060 - CDKL2 Q92772 VAR_041987 p.Leu98Ile US - An ovarian papillary serous adenocarcinoma sample CDKL2 Q92772 VAR_041988 p.Arg149Gln US rs755711267 An ovarian mucinous carcinoma sample CDKL2 Q92772 VAR_041989 p.Met197Thr LB/B rs56343717 - CDKL2 Q92772 VAR_041990 p.Ala411Val LB/B rs56231363 - CDKL2 Q92772 VAR_053928 p.Tyr77Ser LB/B rs35921414 - CDKL2 Q92772 VAR_053929 p.Ile132Thr LB/B rs17000707 - CDKL3 Q8IVW4 VAR_041991 p.Met394Thr LB/B rs35687772 - CDKL4 Q5MAI5 VAR_041992 p.Ser38Pro LB/B rs35947084 - CDKL4 Q5MAI5 VAR_041993 p.Arg53His LB/B rs35454041 - CDKL4 Q5MAI5 VAR_041994 p.Phe228Cys LB/B rs56353587 - CDKL4 Q5MAI5 VAR_041995 p.Ser288Tyr LB/B rs34819676 - CDKL4 Q5MAI5 VAR_041996 p.Arg307Cys LB/B rs56330730 - CDKL4 Q5MAI5 VAR_053930 p.His118Tyr LB/B rs6731369 - CDKL5 O76039 VAR_023560 p.Cys152Phe LP/P rs122460157 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_023561 p.Arg175Ser LP/P rs61749700 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_023562 p.Gln791Pro LB/B rs35478150 - CDKL5 O76039 VAR_036578 p.Asn368His US - A colorectal cancer sample CDKL5 O76039 VAR_037635 p.Pro180Leu LP/P rs61749704 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_037636 p.Val793Ala US rs62643617 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_041997 p.Ala374Thr US - A metastatic melanoma sample CDKL5 O76039 VAR_041998 p.Pro574Gln US rs199897804 An ovarian serous carcinoma sample CDKL5 O76039 VAR_041999 p.Thr734Ala LB/B rs55803460 - CDKL5 O76039 VAR_058022 p.Ala40Val LP/P rs122460159 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_058023 p.Ile72Asn LP/P rs62641235 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_058024 p.Ile72Thr LP/P rs62641235 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_058025 p.His127Arg LP/P rs267608468 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_058026 p.Arg178Pro LP/P rs267606715 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_058027 p.Leu220Pro LP/P rs267608511 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_058028 p.Thr288Ile LP/P rs267606713 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_058029 p.Cys291Tyr LP/P rs267606714 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_058030 p.Asn399Thr LP/P rs267608611 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_058031 p.Arg444Cys LB/B rs61753977 - CDKL5 O76039 VAR_058032 p.Val718Met LP/P rs267608653 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_071103 p.Arg178Gln LP/P rs267606715 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_078219 p.Ser196Leu LP/P rs267608501 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_078625 p.His145Tyr US - Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_078626 p.Leu182Pro LP/P - Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_078627 p.Gly207Glu LP/P - Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_078628 p.His581Tyr US - Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_078630 p.Arg858Cys US rs773760466 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_078712 p.Arg178Trp LP/P rs267608493 Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5 O76039 VAR_078713 p.Pro647Leu US - - CDKN1A P38936 VAR_011870 p.Ser31Arg LB/B rs1801270 - CDKN1A P38936 VAR_048686 p.Pro4Leu LB/B rs4986866 - CDKN1A P38936 VAR_048687 p.Phe63Leu LB/B rs4986867 - CDKN1B P46527 VAR_011871 p.Arg15Trp LB/B rs2066828 - CDKN1B P46527 VAR_011872 p.Val109Gly LB/B rs2066827 - CDKN1B P46527 VAR_064429 p.Pro69Leu LB/B rs777354267 - CDKN1C P49918 VAR_068848 p.Asp274Asn LP/P rs387907225 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732] CDKN1C P49918 VAR_068849 p.Phe276Ser LP/P rs387907224 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732] CDKN1C P49918 VAR_068850 p.Phe276Val LP/P rs387907223 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732] CDKN1C P49918 VAR_068851 p.Lys278Glu LP/P rs387907226 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732] CDKN1C P49918 VAR_068852 p.Arg279Pro LP/P rs318240750 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732] CDKN1C P49918 VAR_075200 p.Met12Leu US rs483352966 Beckwith-Wiedemann syndrome (BWS) [MIM:130650] CDKN1C P49918 VAR_075201 p.Leu53Pro LP/P rs483352968 Beckwith-Wiedemann syndrome (BWS) [MIM:130650] CDKN1C P49918 VAR_075203 p.Pro70Leu LP/P rs483352970 Beckwith-Wiedemann syndrome (BWS) [MIM:130650] CDKN1C P49918 VAR_075204 p.Pro158Ala US rs483352981 Beckwith-Wiedemann syndrome (BWS) [MIM:130650] CDKN2A P42771 VAR_001408 p.Asp14Glu US rs1819961127 A biliary tract tumor CDKN2A P42771 VAR_001409 p.Leu16Pro US rs864622263 A biliary tract tumor CDKN2A P42771 VAR_001409 p.Leu16Pro US rs864622263 A familial melanoma CDKN2A P42771 VAR_001410 p.Ala20Pro US rs760065045 A lung tumor CDKN2A P42771 VAR_001410 p.Ala20Pro US rs760065045 Melanoma CDKN2A P42771 VAR_001411 p.Ala20Ser US rs760065045 A biliary tract tumor CDKN2A P42771 VAR_001412 p.Gly23Asp US rs1064794292 A melanoma CDKN2A P42771 VAR_001412 p.Gly23Asp US rs1064794292 A pancreas tumor CDKN2A P42771 VAR_001414 p.Arg24Pro LP/P rs104894097 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001415 p.Glu26Asp US - A biliary tract tumor CDKN2A P42771 VAR_001416 p.Leu32Pro LP/P rs878853650 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001417 p.Glu33Asp US - A biliary tract tumor CDKN2A P42771 VAR_001418 p.Gly35Ala LP/P rs746834149 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001419 p.Gly35Glu LP/P rs746834149 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001420 p.Pro48Leu LP/P - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001421 p.Ile49Ser US rs199907548 A biliary tract tumor CDKN2A P42771 VAR_001422 p.Ile49Thr LB/B rs199907548 - CDKN2A P42771 VAR_001423 p.Gln50Arg LP/P rs587778189 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001424 p.Met53Ile LP/P rs104894095 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001425 p.Ser56Ile LP/P rs104894109 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001426 p.Ala57Val US rs372266620 Pancreas carcinoma CDKN2A P42771 VAR_001427 p.Val59Gly LP/P rs104894099 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001428 p.Ala60Thr LB/B rs769382085 - CDKN2A P42771 VAR_001430 p.Leu62Pro LP/P - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001431 p.His66Tyr US - Non-small cell lung carcinoma CDKN2A P42771 VAR_001432 p.Ala68Leu LP/P rs876658534 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001433 p.Ala68Thr US - An esophagus tumor CDKN2A P42771 VAR_001434 p.Ala68Val LB/B rs1060501260 - CDKN2A P42771 VAR_001435 p.Glu69Lys US - A bladder tumor CDKN2A P42771 VAR_001436 p.Glu69Val US - A lung tumor CDKN2A P42771 VAR_001437 p.Asn71Lys LP/P - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001438 p.Asn71Ser LB/B rs559848002 - CDKN2A P42771 VAR_001439 p.Cys72Gly US - An esophagus tumor CDKN2A P42771 VAR_001440 p.Asp74Asn US rs760640852 A bladder tumor CDKN2A P42771 VAR_001441 p.Asp74Val US rs200429615 A biliary tract tumor CDKN2A P42771 VAR_001442 p.Arg80Leu US - Neck tumor CDKN2A P42771 VAR_001443 p.Pro81Leu US rs11552823 Some patients with melanoma CDKN2A P42771 VAR_001444 p.His83Tyr US rs121913385 A pancreas tumor CDKN2A P42771 VAR_001445 p.His83Asn US - A lung tumor CDKN2A P42771 VAR_001446 p.Asp84Glu US - A bladder tumor CDKN2A P42771 VAR_001447 p.Asp84His US - Non-small cell lung carcinoma CDKN2A P42771 VAR_001448 p.Asp84Asn US rs11552822 An esophagus tumor CDKN2A P42771 VAR_001449 p.Asp84Tyr LP/P rs11552822 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001450 p.Ala85Thr LB/B rs878853646 - CDKN2A P42771 VAR_001451 p.Arg87Pro LP/P rs878853647 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001452 p.Glu88Asp US - A biliary tract tumor CDKN2A P42771 VAR_001453 p.Gly89Asp LP/P rs137854599 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001454 p.Gly89Ser LP/P rs137854597 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001455 p.Thr93Ala US - Non-small cell lung carcinoma CDKN2A P42771 VAR_001456 p.Val95Ala US - Non-small cell lung carcinoma CDKN2A P42771 VAR_001457 p.Leu97Arg LP/P - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001458 p.His98Pro LP/P - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001459 p.His98Gln LP/P rs752685118 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001460 p.Arg99Pro LP/P rs754806883 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001461 p.Arg99Gln US rs754806883 Non-small cell lung carcinoma CDKN2A P42771 VAR_001462 p.Ala100Leu LP/P - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001463 p.Ala100Pro LB/B - - CDKN2A P42771 VAR_001464 p.Gly101Trp LP/P rs104894094 Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:606719] CDKN2A P42771 VAR_001464 p.Gly101Trp LP/P rs104894094 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001466 p.Arg107Cys LP/P rs1554654024 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001467 p.Arg107His LB/B rs370823171 - CDKN2A P42771 VAR_001468 p.Asp108Tyr US rs121913381 Neck tumor CDKN2A P42771 VAR_001469 p.Asp108His US - A bladder tumor CDKN2A P42771 VAR_001470 p.Pro114Leu US rs121913386 Non-small cell lung carcinoma CDKN2A P42771 VAR_001471 p.Leu117Met LP/P - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001472 p.Ala118Thr LP/P rs1554653960 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001473 p.Glu119Gln US - A biliary tract tumor CDKN2A P42771 VAR_001474 p.Glu120Ala US - Non-small cell lung carcinoma CDKN2A P42771 VAR_001475 p.Glu120Lys US - Non-small cell lung carcinoma CDKN2A P42771 VAR_001476 p.Gly122Ser US rs113798404 A biliary tract tumor CDKN2A P42771 VAR_001477 p.His123Gln US rs6413463 Leukemia CDKN2A P42771 VAR_001478 p.Arg124His US rs747621669 An esophagus tumor CDKN2A P42771 VAR_001479 p.Val126Asp LP/P rs104894098 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001480 p.Ala127Ser US rs6413464 Squamous cell carcinoma CDKN2A P42771 VAR_001481 p.Ala132Pro US - Non-small cell lung carcinoma CDKN2A P42771 VAR_001482 p.Ala134Val US rs757497674 Non-small cell lung carcinoma CDKN2A P42771 VAR_001483 p.His142Tyr US rs1587330478 Non-small cell lung carcinoma CDKN2A P42771 VAR_001484 p.Arg144Cys US rs116150891 Squamous cell carcinoma CDKN2A P42771 VAR_001486 p.Ala148Thr LB/B rs3731249 - CDKN2A P42771 VAR_001487 p.Gly150Val US - Non-small cell lung carcinoma CDKN2A P42771 VAR_012317 p.Arg87Trp LP/P rs749714198 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_015818 p.Ala102Glu LB/B rs137854598 - CDKN2A P42771 VAR_023604 p.Leu94Gln LP/P rs1819703656 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_035069 p.Gly122Arg LP/P rs113798404 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_053028 p.Ala60Val US rs36204594 Melanoma CDKN2A P42771 VAR_053029 p.His83Gln LB/B rs34968276 - CDKN2A P42771 VAR_053030 p.Arg99Trp LB/B rs34886500 - CDKN2A P42771 VAR_053031 p.Ala102Thr LB/B rs35741010 - CDKN2A P42771 VAR_053032 p.Arg124Cys LB/B rs34170727 - CDKN2A P42771 VAR_058550 p.Arg24Gln LB/B rs104894097 - CDKN2A P42771 VAR_058551 p.Gly35Val LP/P rs746834149 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_058553 p.Gly67Arg LP/P rs758389471 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_058554 p.Glu69Gly LB/B rs372670098 - CDKN2A P42771 VAR_058555 p.Asp74Tyr LP/P rs760640852 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_058556 p.Thr77Pro LP/P - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_058557 p.Arg80Pro LP/P rs1057519883 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_058558 p.Pro81Thr LP/P rs1334828764 Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_058559 p.Pro114Ser LB/B rs104894104 - CDKN2A Q8N726 VAR_029287 p.Pro17Ser LB/B rs3731190 - CDKN2A Q8N726 VAR_053033 p.Gly106Arg LB/B rs4987127 - CDKN2A Q8N726 VAR_053034 p.Pro113Leu LB/B rs34886500 - CDKN2A Q8N726 VAR_053035 p.Gly116Asp LB/B rs35741010 - CDKN2B P42772 VAR_001488 p.Gly47Glu US - Lung adenocarcinoma CDKN2B P42772 VAR_001489 p.Ala50Val US rs1423790481 Lung adenocarcinoma CDKN2C P42773 VAR_001490 p.Ala72Pro US rs771853517 Breast cancer CDKN2C P42773 VAR_038604 p.Thr126Met LB/B rs17851380 - CDKN3 Q16667 VAR_013842 p.Trp31Arg LP/P - Hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_013843 p.Phe78Leu LP/P - Hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_013844 p.Cys79Tyr LP/P - Hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_013845 p.Asn91Lys LP/P rs760687800 Hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_013846 p.Asp94Val LP/P - Hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_013847 p.Leu95Phe LP/P - Hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_013848 p.Ile108Val LP/P rs144479038 Hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_013849 p.Asn187Ser LP/P - Hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_013850 p.Lys195Ile LP/P - Hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_051769 p.Ser159Phe LB/B rs1803843 - CDO1 Q16878 VAR_023536 p.Thr45Ile LB/B rs1042867 - CDO1 Q16878 VAR_036170 p.Glu143Gln US - A colorectal cancer sample CDON Q4KMG0 VAR_056038 p.Lys66Arg LB/B rs7122277 - CDON Q4KMG0 VAR_056039 p.Glu162Lys LB/B rs3740909 - CDON Q4KMG0 VAR_056040 p.Pro351Ala LB/B rs35665264 - CDON Q4KMG0 VAR_056041 p.Ala686Val LB/B rs12274923 - CDON Q4KMG0 VAR_066497 p.Thr684Ser LP/P rs145983470 Holoprosencephaly 11 (HPE11) [MIM:614226] CDON Q4KMG0 VAR_066498 p.Pro689Ala LP/P rs387906995 Holoprosencephaly 11 (HPE11) [MIM:614226] CDON Q4KMG0 VAR_066499 p.Val691Met LP/P rs139323558 Holoprosencephaly 11 (HPE11) [MIM:614226] CDON Q4KMG0 VAR_066500 p.Val780Glu LP/P rs387906996 Holoprosencephaly 11 (HPE11) [MIM:614226] CDON Q4KMG0 VAR_066501 p.Thr790Ala LP/P rs387906997 Holoprosencephaly 11 (HPE11) [MIM:614226] CDON Q4KMG0 VAR_066502 p.Ser940Arg LP/P rs369673018 Holoprosencephaly 11 (HPE11) [MIM:614226] CDPF1 Q6NVV7 VAR_044058 p.Val5Ala LB/B rs9627281 - CDPF1 Q6NVV7 VAR_062237 p.Leu70Arg LB/B rs55641018 - CDR2L Q86X02 VAR_035384 p.Asp300Glu LB/B rs36057512 - CDRT15 Q96T59 VAR_038121 p.Arg24Gln LB/B rs17679866 - CDRT4 Q8N9R6 VAR_038119 p.Val73Ile LB/B rs3744332 - CDRT4 Q8N9R6 VAR_038120 p.His122Gln LB/B rs2954759 - CDS1 Q92903 VAR_036129 p.Lys204Thr US - A breast cancer sample CDS1 Q92903 VAR_048736 p.Leu99Phe LB/B rs36068434 - CDSN Q15517 VAR_022615 p.Met18Leu LB/B rs3095318 - CDSN Q15517 VAR_022616 p.Asn143Ser LB/B rs3130984 - CDSN Q15517 VAR_022618 p.Phe202Ser LB/B rs707913 - CDSN Q15517 VAR_022619 p.Ser408Ala LB/B rs1042127 - CDSN Q15517 VAR_022620 p.Leu410Ser LB/B rs3132554 - CDSN Q15517 VAR_022621 p.Asn527Asp LB/B rs3130981 - CDSN Q15517 VAR_022637 p.Leu56Phe LB/B rs7742033 - CDSN Q15517 VAR_022639 p.Ser150Asn LB/B rs1184132826 - CDSN Q15517 VAR_022641 p.Ser401Gly LB/B rs33941312 - CDSN Q15517 VAR_046010 p.Gly145Ser LB/B rs6457328 - CDT1 Q9H211 VAR_024408 p.Ala537Val LB/B rs3218721 - CDT1 Q9H211 VAR_029163 p.Ala135Val LB/B rs3218725 - CDT1 Q9H211 VAR_029164 p.Arg172Cys LB/B rs3218727 - CDT1 Q9H211 VAR_029165 p.Glu456Ala LB/B rs3218729 - CDT1 Q9H211 VAR_054504 p.Cys234Arg LB/B rs507329 - CDT1 Q9H211 VAR_054505 p.Thr262Ala LB/B rs480727 - CDT1 Q9H211 VAR_065488 p.Ala66Thr LP/P rs387906918 Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] CDT1 Q9H211 VAR_065489 p.Gln117His LP/P rs779871947 Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] CDT1 Q9H211 VAR_065490 p.Arg453Trp LP/P rs200672589 Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] CDT1 Q9H211 VAR_065491 p.Arg462Gln LP/P rs387906917 Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] CDT1 Q9H211 VAR_065492 p.Glu468Lys LP/P rs200652608 Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] CDX1 P47902 VAR_020149 p.Pro130Arg LB/B rs2302275 - CDX2 Q99626 VAR_014530 p.Pro293Ser LB/B rs1805107 - CDYL Q9Y232 VAR_032936 p.Thr2Ala LB/B rs3812179 - CDYL Q9Y232 VAR_032937 p.Ser9Pro LB/B rs3812178 - CDYL Q9Y232 VAR_032938 p.Val48Ala LB/B rs13196069 - CDYL Q9Y232 VAR_032939 p.Ala60Gly LB/B rs28360500 - CEACAM1 P13688 VAR_049844 p.Gln35Lys LB/B rs8111171 - CEACAM1 P13688 VAR_049845 p.Ala83Val LB/B rs8110904 - CEACAM1 P13688 VAR_049846 p.Gln123His LB/B rs8111468 - CEACAM1 P13688 VAR_049847 p.Gln376Arg LB/B rs41355544 - CEACAM16 Q2WEN9 VAR_067769 p.Thr140Pro LP/P rs387907149 Deafness, autosomal dominant, 4B (DFNA4B) [MIM:614614] CEACAM16 Q2WEN9 VAR_072720 p.Gly169Arg LP/P rs876661405 Deafness, autosomal dominant, 4B (DFNA4B) [MIM:614614] CEACAM18 A8MTB9 VAR_043976 p.Leu160His LB/B rs8106673 - CEACAM18 A8MTB9 VAR_043977 p.Thr161Ala LB/B rs12610545 - CEACAM20 Q6UY09 VAR_056030 p.Ala41Val LB/B rs10408247 - CEACAM20 Q6UY09 VAR_056031 p.Arg113His LB/B rs13345196 - CEACAM20 Q6UY09 VAR_056032 p.Ile127Val LB/B rs35443082 - CEACAM20 Q6UY09 VAR_056033 p.Ser355Leu LB/B rs16959164 - CEACAM20 Q6UY09 VAR_056034 p.Ser369Phe LB/B rs10414398 - CEACAM20 Q6UY09 VAR_059385 p.Arg512Cys LB/B rs8100718 - CEACAM20 Q6UY09 VAR_061312 p.Thr87Ile LB/B rs36053277 - CEACAM21 Q3KPI0 VAR_034651 p.Asn121Thr LB/B rs714106 - CEACAM21 Q3KPI0 VAR_034652 p.Val198Met LB/B rs2302188 - CEACAM3 P40198 VAR_003905 p.Ser7Pro LB/B rs1041999 - CEACAM4 O75871 VAR_038404 p.His29Asp LB/B rs1126454 - CEACAM4 O75871 VAR_038405 p.Lys69Arg LB/B rs3848568 - CEACAM5 P06731 VAR_024493 p.Glu398Lys LB/B rs7249230 - CEACAM5 P06731 VAR_031091 p.Ala340Asp LB/B rs10407503 - CEACAM5 P06731 VAR_031092 p.Arg664Ser LB/B rs10423171 - CEACAM5 P06731 VAR_056028 p.Gln137Pro LB/B rs3815780 - CEACAM5 P06731 VAR_056029 p.Gly678Arg LB/B rs9621 - CEACAM5 P06731 VAR_061310 p.Ile80Val LB/B rs12971352 - CEACAM5 P06731 VAR_061311 p.Val83Ala LB/B rs28683503 - CEACAM6 P40199 VAR_034680 p.Val239Gly LB/B rs11548735 - CEACAM7 Q14002 VAR_024494 p.Ile120Phe LB/B rs8102488 - CEACAM7 Q14002 VAR_049848 p.Ala263Val LB/B rs7259532 - CEACAM7 Q14002 VAR_059384 p.Tyr236His LB/B rs16975478 - CEACAM8 P31997 VAR_011721 p.Arg114Lys LB/B rs1041997 - CEACAM8 P31997 VAR_049849 p.Gly17Val LB/B rs28367882 - CEACAM8 P31997 VAR_049850 p.Ala45Val LB/B rs35221575 - CEACAM8 P31997 VAR_049851 p.Leu322Val LB/B rs1126458 - CEACAM8 P31997 VAR_049852 p.Ile340Met LB/B rs8103051 - CEBPA P49715 VAR_072677 p.His84Leu LP/P rs28931590 Leukemia, acute myelogenous (AML) [MIM:601626] CEBPB P17676 VAR_016300 p.Gly195Ser LB/B rs4253440 - CEBPD P49716 VAR_037087 p.Arg248Trp LB/B rs34948549 - CEBPE Q15744 VAR_087820 p.Val218Ala LP/P - Specific granule deficiency 1 (SGD1) [MIM:245480] CEBPE Q15744 VAR_087821 p.Arg219His LP/P - Immunodeficiency 108 with autoinflammation (IMD108) [MIM:260570] CEBPZ Q03701 VAR_026043 p.Val102Ile LB/B rs2098386 - CEBPZ Q03701 VAR_031399 p.Pro15Ser LB/B rs3213746 - CEBPZ Q03701 VAR_031400 p.Lys303Arg LB/B rs17020328 - CEBPZ Q03701 VAR_055622 p.Asn639Ser LB/B rs3180252 - CECR2 Q9BXF3 VAR_027411 p.Arg293His LB/B rs5747211 - CECR2 Q9BXF3 VAR_027412 p.Pro674Leu LB/B rs1296794 - CEFIP Q711Q0 VAR_031441 p.Asn208Lys LB/B rs4838383 - CEFIP Q711Q0 VAR_031442 p.His666Gln LB/B rs10857469 - CEFIP Q711Q0 VAR_059608 p.Phe698Ser LB/B rs7921186 - CEFIP Q711Q0 VAR_059609 p.Asp741Gly LB/B rs11101093 - CEFIP Q711Q0 VAR_059610 p.Asp883Asn LB/B rs12217617 - CEFIP Q711Q0 VAR_059611 p.Phe958Tyr LB/B rs10857470 - CEFIP Q711Q0 VAR_059612 p.Gly1084Ala LB/B rs11101094 - CEFIP Q711Q0 VAR_059613 p.Val1254Ile LB/B rs11101095 - CEFIP Q711Q0 VAR_059614 p.Gly1337Ser LB/B rs10857472 - CEFIP Q711Q0 VAR_061604 p.Arg320Leu LB/B rs56206226 - CEFIP Q711Q0 VAR_061605 p.Asp461Ala LB/B rs45554335 - CEFIP Q711Q0 VAR_061606 p.Val522Gly LB/B rs61453891 - CELA1 Q9UNI1 VAR_033645 p.Gln10His LB/B rs17860287 - CELA1 Q9UNI1 VAR_033646 p.Arg44Trp LB/B rs17860299 - CELA1 Q9UNI1 VAR_033647 p.Met59Val LB/B rs17860300 - CELA1 Q9UNI1 VAR_033648 p.Gln243Arg LB/B rs17860364 - CELA1 Q9UNI1 VAR_036295 p.Gly76Ala US - A breast cancer sample CELA2A P08217 VAR_051837 p.Asn257Ser LB/B rs2303193 - CELA2A P08217 VAR_083326 p.Thr70Met LP/P rs372947070 Abdominal obesity-metabolic syndrome 4 (AOMS4) [MIM:618620] CELA2A P08217 VAR_083327 p.Leu85Met US rs558493952 Abdominal obesity-metabolic syndrome 4 (AOMS4) [MIM:618620] CELA2A P08217 VAR_083328 p.Asp121Asn LP/P rs1352544800 Abdominal obesity-metabolic syndrome 4 (AOMS4) [MIM:618620] CELA2B P08218 VAR_044534 p.Gly79Arg LB/B rs3820071 - CELA2B P08218 VAR_044535 p.Asp114Asn LB/B rs3766160 - CELA2B P08218 VAR_044536 p.Gln177Arg LB/B rs6429745 - CELA2B P08218 VAR_044537 p.Gly235Ser LB/B rs3737703 - CELA3A P09093 VAR_051838 p.Ala241Gly LB/B rs3820285 - CELA3A P09093 VAR_059783 p.His24Arg LB/B rs7531336 - CELA3A P09093 VAR_059784 p.Ser25Pro LB/B rs7533776 - CELA3A P09093 VAR_059785 p.His31Asn LB/B rs7519660 - CELA3B P08861 VAR_025446 p.Arg79Trp LB/B rs7528405 - CELF2 O95319 VAR_052202 p.Asp438His LB/B rs1050942 - CELF2 O95319 VAR_086490 p.Arg493Gly US - Developmental and epileptic encephalopathy 97 (DEE97) [MIM:619561] CELF2 O95319 VAR_086491 p.Pro507Ser LP/P - Developmental and epileptic encephalopathy 97 (DEE97) [MIM:619561] CELF4 Q9BZC1 VAR_052203 p.Gly388Ser LB/B rs12458669 - CELF5 Q8N6W0 VAR_033264 p.Phe65Leu LB/B rs17854481 - CELF6 Q96J87 VAR_033265 p.Arg152Pro LB/B rs34566074 - CELSR1 Q9NYQ6 VAR_016094 p.Ser664Trp LB/B rs4823850 - CELSR1 Q9NYQ6 VAR_016095 p.Cys1126Arg LB/B rs4823561 - CELSR1 Q9NYQ6 VAR_024479 p.Ile2107Val LB/B rs4044210 - CELSR1 Q9NYQ6 VAR_024480 p.Thr2268Ala LB/B rs6007897 - CELSR1 Q9NYQ6 VAR_049464 p.Ile587Val LB/B rs34141466 - CELSR1 Q9NYQ6 VAR_049465 p.Val1242Ile LB/B rs6008842 - CELSR1 Q9NYQ6 VAR_049466 p.Tyr1894His LB/B rs34467708 - CELSR1 Q9NYQ6 VAR_049467 p.Leu1994Pro LB/B rs6008795 - CELSR1 Q9NYQ6 VAR_049468 p.Leu1995Pro LB/B rs6008794 - CELSR1 Q9NYQ6 VAR_049469 p.Thr2045Met LB/B rs12169391 - CELSR1 Q9NYQ6 VAR_049470 p.Arg2219His LB/B rs34267201 - CELSR1 Q9NYQ6 VAR_049471 p.Cys2797Ser LB/B rs12165943 - CELSR1 Q9NYQ6 VAR_049472 p.Glu2903Gln LB/B rs9615351 - CELSR1 Q9NYQ6 VAR_049473 p.Gly2948Ser LB/B rs35364389 - CELSR1 Q9NYQ6 VAR_067213 p.Ala773Val LP/P rs12170597 Neural tube defects (NTD) [MIM:182940] CELSR1 Q9NYQ6 VAR_067214 p.Arg2312Pro LB/B rs7287089 - CELSR1 Q9NYQ6 VAR_067215 p.Arg2438Gln LP/P rs199688538 Neural tube defects (NTD) [MIM:182940] CELSR1 Q9NYQ6 VAR_067216 p.Asn2739Thr LB/B rs148905592 - CELSR1 Q9NYQ6 VAR_067217 p.Ser2964Leu LP/P rs6008777 Neural tube defects (NTD) [MIM:182940] CELSR1 Q9NYQ6 VAR_067218 p.Pro2983Ala LP/P rs61741871 Neural tube defects (NTD) [MIM:182940] CELSR1 Q9NYQ6 VAR_085933 p.Ala1058Thr US rs146657902 Lymphatic malformation 9 (LMPHM9) [MIM:619319] CELSR1 Q9NYQ6 VAR_085934 p.Asn1539Ser US - Lymphatic malformation 9 (LMPHM9) [MIM:619319] CELSR1 Q9NYQ6 VAR_085935 p.Pro1883His US rs369237672 Lymphatic malformation 9 (LMPHM9) [MIM:619319] CELSR1 Q9NYQ6 VAR_085937 p.Gly2150Val US rs1167228557 Lymphatic malformation 9 (LMPHM9) [MIM:619319] CELSR1 Q9NYQ6 VAR_085938 p.Gly2425Trp US rs774311996 Lymphatic malformation 9 (LMPHM9) [MIM:619319] CELSR1 Q9NYQ6 VAR_085939 p.Arg2709Gly US rs138303327 Lymphatic malformation 9 (LMPHM9) [MIM:619319] CELSR1 Q9NYQ6 VAR_085940 p.Thr3001Arg US - Lymphatic malformation 9 (LMPHM9) [MIM:619319] CELSR2 Q9HCU4 VAR_024481 p.Tyr1639His LB/B rs653635 - CELSR2 Q9HCU4 VAR_049474 p.Arg1066Gln LB/B rs12083590 - CELSR2 Q9HCU4 VAR_049475 p.Gly1992Arg LB/B rs12567377 - CELSR2 Q9HCU4 VAR_049476 p.Thr2387Ala LB/B rs17035649 - CELSR2 Q9HCU4 VAR_083430 p.Arg2812Trp US rs149683589 - CELSR3 Q9NYQ7 VAR_020022 p.Ala157Pro LB/B rs3733085 - CELSR3 Q9NYQ7 VAR_020023 p.Ser805Thr LB/B rs3821875 - CELSR3 Q9NYQ7 VAR_055101 p.Gln1758Arg LB/B rs12107252 - CELSR3 Q9NYQ7 VAR_083108 p.Gly2136Asp US rs587777163 - CELSR3 Q9NYQ7 VAR_083109 p.Met2630Ile LB/B rs149614835 - CEMIP Q8WUJ3 VAR_018165 p.Arg187Cys LB/B rs368854657 - CEMIP Q8WUJ3 VAR_018166 p.Arg187His LB/B rs144446375 - CEMIP Q8WUJ3 VAR_018167 p.His783Arg LB/B rs12441101 - CEMIP Q8WUJ3 VAR_018168 p.His783Tyr LB/B rs996035812 - CEMIP Q8WUJ3 VAR_018169 p.Val1109Ile LB/B rs751807711 - CEMIP Q8WUJ3 VAR_018170 p.Pro1169Ala LB/B rs16972583 - CEMIP2 Q9UHN6 VAR_032669 p.Arg245Lys LB/B rs25688 - CEMIP2 Q9UHN6 VAR_032670 p.Arg291His LB/B rs25689 - CEMIP2 Q9UHN6 VAR_032671 p.Asp423Glu LB/B rs25695 - CEMIP2 Q9UHN6 VAR_032672 p.Pro765Ser LB/B rs25692 - CEMIP2 Q9UHN6 VAR_032673 p.Ile1010Val LB/B rs17057133 - CEMIP2 Q9UHN6 VAR_032674 p.Ser1254Asn LB/B rs2297089 - CEMIP2 Q9UHN6 VAR_032675 p.Gly1280Asp LB/B rs17475375 - CEMIP2 Q9UHN6 VAR_062197 p.Arg291Leu LB/B rs25689 - CEMIP2 Q9UHN6 VAR_062198 p.Arg291Pro LB/B rs25689 - CEMP1 Q6PRD7 VAR_050792 p.Lys55Glu LB/B rs13331643 - CENATAC Q86UT8 VAR_029848 p.Trp244Gly LB/B rs600648 - CENPC Q03188 VAR_069295 p.Leu341Phe LB/B rs11250 - CENPC Q03188 VAR_069296 p.Gly389Asp LB/B rs1056787 - CENPE Q02224 VAR_049689 p.Phe1535Leu LB/B rs2615542 - CENPE Q02224 VAR_049690 p.Ser1581Arg LB/B rs35100664 - CENPE Q02224 VAR_049691 p.Glu1925Asp LB/B rs2306106 - CENPE Q02224 VAR_049692 p.Thr2090Met LB/B rs2243682 - CENPE Q02224 VAR_059370 p.Ser1911Thr LB/B rs1381657 - CENPE Q02224 VAR_072429 p.Asp933Asn LP/P rs144716013 Microcephaly 13, primary, autosomal recessive (MCPH13) [MIM:616051] CENPE Q02224 VAR_072430 p.Lys1355Glu LP/P rs141488085 Microcephaly 13, primary, autosomal recessive (MCPH13) [MIM:616051] CENPF P49454 VAR_014839 p.Asn3106Lys LB/B rs7289 - CENPF P49454 VAR_034712 p.Arg300Cys LB/B rs17023281 - CENPF P49454 VAR_034713 p.His494Gln LB/B rs2070065 - CENPF P49454 VAR_034714 p.Met701Val LB/B rs3795524 - CENPF P49454 VAR_034715 p.Gln754Glu LB/B rs3795523 - CENPF P49454 VAR_034716 p.Arg815His LB/B rs3795522 - CENPF P49454 VAR_034717 p.Tyr1018Asp LB/B rs3795519 - CENPF P49454 VAR_034718 p.Gly1033Arg LB/B rs3795518 - CENPF P49454 VAR_034719 p.Thr1105Ile LB/B rs12067133 - CENPF P49454 VAR_034720 p.Leu1412Ser LB/B rs3795517 - CENPF P49454 VAR_034723 p.Glu1915Ala LB/B rs3790647 - CENPF P49454 VAR_055049 p.Gln250Leu LB/B rs1050065 - CENPF P49454 VAR_055050 p.Asp272Gly LB/B rs1050066 - CENPF P49454 VAR_055638 p.Asp1768Asn LB/B rs3748692 - CENPH Q9H3R5 VAR_036167 p.Glu2Lys US rs777698677 A colorectal cancer sample CENPJ Q9HC77 VAR_032427 p.Met21Val LB/B rs35498994 - CENPJ Q9HC77 VAR_032428 p.Pro55Ala LB/B rs17081389 - CENPJ Q9HC77 VAR_032429 p.Asp63His LB/B rs7336216 - CENPJ Q9HC77 VAR_032430 p.Pro85Thr LB/B rs9511510 - CENPJ Q9HC77 VAR_032431 p.Glu151Gly LB/B rs34177811 - CENPJ Q9HC77 VAR_032432 p.Ser879Ala LB/B rs17402892 - CENPJ Q9HC77 VAR_032433 p.Glu1235Val LP/P rs121434311 Microcephaly 6, primary, autosomal recessive (MCPH6) [MIM:608393] CENPL Q8N0S6 VAR_027081 p.Ile117Phe LB/B rs12086855 - CENPN Q96H22 VAR_027419 p.Glu84Asp LB/B rs935939 - CENPN Q96H22 VAR_048689 p.Gln223Arg LB/B rs11641523 - CENPN Q96H22 VAR_048690 p.Glu288Lys LB/B rs2549887 - CENPO Q9BU64 VAR_027420 p.Gln34Arg LB/B rs1550116 - CENPQ Q7L2Z9 VAR_022857 p.Gly63Arg LB/B rs4267943 - CENPQ Q7L2Z9 VAR_024303 p.Asp266Gly LB/B rs2501968 - CENPT Q96BT3 VAR_027421 p.Pro115Leu LB/B rs12102580 - CENPU Q71F23 VAR_027144 p.Gly16Ser LB/B rs902174 - CENPU Q71F23 VAR_027145 p.Ile157Thr LB/B rs6552804 - CENPU Q71F23 VAR_027146 p.Ile214Met LB/B rs4616798 - CENPU Q71F23 VAR_048692 p.Gly16Arg LB/B rs902174 - CENPU Q71F23 VAR_048693 p.Ala279Thr LB/B rs34007339 - CEP104 O60308 VAR_020042 p.Ala686Val LB/B rs2275831 - CEP104 O60308 VAR_034036 p.Leu414Ile LB/B rs2275824 - CEP112 Q8N8E3 VAR_050752 p.Lys551Glu LB/B rs17704679 - CEP112 Q8N8E3 VAR_084998 p.Arg692Trp US - Spermatogenic failure 44 (SPGF44) [MIM:619044] CEP112 Q8N8E3 VAR_084999 p.Arg702Cys US - Spermatogenic failure 44 (SPGF44) [MIM:619044] CEP120 Q8N960 VAR_046126 p.Leu602Val LB/B rs6595440 - CEP120 Q8N960 VAR_046127 p.Gln879His LB/B rs1047437 - CEP120 Q8N960 VAR_046128 p.Val936Ile LB/B rs2303721 - CEP120 Q8N960 VAR_046129 p.Arg947His LB/B rs2303720 - CEP120 Q8N960 VAR_073672 p.Ala199Pro LP/P rs367600930 Short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13) [MIM:616300] CEP120 Q8N960 VAR_077553 p.Val194Ala US rs1554104276 Joubert syndrome 31 (JBTS31) [MIM:617761] CEP120 Q8N960 VAR_077554 p.Ala549Val US rs775080726 Joubert syndrome 31 (JBTS31) [MIM:617761] CEP120 Q8N960 VAR_077555 p.Leu712Phe US rs114280473 Joubert syndrome 31 (JBTS31) [MIM:617761] CEP120 Q8N960 VAR_077556 p.Leu726Pro US rs1554102026 Joubert syndrome 31 (JBTS31) [MIM:617761] CEP120 Q8N960 VAR_077557 p.Ile975Ser US rs1554098663 - CEP126 Q9P2H0 VAR_027363 p.Ala178Thr LB/B rs11225086 - CEP126 Q9P2H0 VAR_027364 p.Cys238Gly LB/B rs7926728 - CEP126 Q9P2H0 VAR_027365 p.Ser275Tyr LB/B rs11225089 - CEP126 Q9P2H0 VAR_027366 p.Ile281Thr LB/B rs11225090 - CEP126 Q9P2H0 VAR_027367 p.Ala302Thr LB/B rs11225091 - CEP126 Q9P2H0 VAR_027368 p.Pro710Ser LB/B rs7109614 - CEP126 Q9P2H0 VAR_027369 p.Met1021Thr LB/B rs7111429 - CEP126 Q9P2H0 VAR_027370 p.Ser1077Asn LB/B rs6590942 - CEP126 Q9P2H0 VAR_068173 p.Gly668Ser LB/B rs76022391 - CEP128 Q6ZU80 VAR_037835 p.Arg16Leu LB/B rs7160694 - CEP128 Q6ZU80 VAR_037836 p.His732Arg LB/B rs327463 - CEP131 Q9UPN4 VAR_056740 p.Val43Ile LB/B rs8067409 - CEP131 Q9UPN4 VAR_060226 p.Ile70Val LB/B rs752612451 - CEP131 Q9UPN4 VAR_060227 p.Thr272Ala LB/B rs2466773 - CEP131 Q9UPN4 VAR_060228 p.Thr397Ala LB/B rs2659015 - CEP131 Q9UPN4 VAR_060229 p.Val473Ala LB/B rs2659016 - CEP135 Q66GS9 VAR_057785 p.Ile769Leu LB/B rs3214045 - CEP152 O94986 VAR_047932 p.Ser54Leu LB/B rs2289181 - CEP152 O94986 VAR_050779 p.Ser793Ile LB/B rs2289178 - CEP152 O94986 VAR_050780 p.Leu914Val LB/B rs16961560 - CEP152 O94986 VAR_050781 p.Val1106Ala LB/B rs16961557 - CEP152 O94986 VAR_063813 p.Gln265Pro LP/P rs267606717 Microcephaly 9, primary, autosomal recessive (MCPH9) [MIM:614852] CEP152 O94986 VAR_065258 p.Lys667Arg LP/P rs200879436 Seckel syndrome 5 (SCKL5) [MIM:613823] CEP162 Q5TB80 VAR_033301 p.Cys266Ser LB/B rs17790493 - CEP162 Q5TB80 VAR_033302 p.Glu272Gln LB/B rs16874323 - CEP162 Q5TB80 VAR_051293 p.Ser342Cys LB/B rs17790493 - CEP162 Q5TB80 VAR_051294 p.Glu348Gln LB/B rs16874323 - CEP164 Q9UPV0 VAR_037511 p.Ser94Asn LB/B rs490262 - CEP164 Q9UPV0 VAR_037512 p.Thr988Ser LB/B rs2305830 - CEP164 Q9UPV0 VAR_037513 p.Gln1119Arg LB/B rs573455 - CEP164 Q9UPV0 VAR_068503 p.Gln11Pro LP/P rs387907309 Nephronophthisis 15 (NPHP15) [MIM:614845] CEP164 Q9UPV0 VAR_068504 p.Arg93Trp LP/P rs387907310 Nephronophthisis 15 (NPHP15) [MIM:614845] CEP170 Q5SW79 VAR_031437 p.Gly213Ser LB/B rs2631092 - CEP192 Q8TEP8 VAR_037514 p.Thr1053Ala LB/B rs10048340 - CEP192 Q8TEP8 VAR_037515 p.Val1365Met LB/B rs2282542 - CEP192 Q8TEP8 VAR_050782 p.Gln1109Pro LB/B rs11080623 - CEP192 Q8TEP8 VAR_050783 p.Arg1544His LB/B rs7228940 - CEP192 Q8TEP8 VAR_050784 p.Ser1552Pro LB/B rs578208 - CEP192 Q8TEP8 VAR_050785 p.Leu1701Phe LB/B rs6505780 - CEP192 Q8TEP8 VAR_050786 p.Ser2051Asn LB/B rs2027698 - CEP192 Q8TEP8 VAR_050787 p.Leu2121Pro LB/B rs474337 - CEP192 Q8TEP8 VAR_050788 p.Lys2271Glu LB/B rs3737379 - CEP192 Q8TEP8 VAR_050789 p.Arg2449Leu LB/B rs1786263 - CEP250 Q9BV73 VAR_015649 p.Gln995His LB/B rs2296403 - CEP250 Q9BV73 VAR_021858 p.Arg1441Gln LB/B rs3748433 - CEP250 Q9BV73 VAR_050898 p.Gln1072Glu LB/B rs17092706 - CEP250 Q9BV73 VAR_081747 p.Ala609Val US rs145878385 - CEP290 O15078 VAR_028356 p.Trp7Cys LP/P rs62635288 Joubert syndrome 5 (JBTS5) [MIM:610188] CEP290 O15078 VAR_028356 p.Trp7Cys LP/P rs62635288 Senior-Loken syndrome 6 (SLSN6) [MIM:610189] CEP290 O15078 VAR_031058 p.Lys838Glu LB/B rs11104738 - CEP290 O15078 VAR_031059 p.Leu906Trp LB/B rs7970228 - CEP290 O15078 VAR_031060 p.Arg1237His LB/B rs7307793 - CEP290 O15078 VAR_031061 p.Ile1836Val LB/B rs11104729 - CEP290 O15078 VAR_064397 p.Glu277Gln LB/B rs45502896 - CEP290 O15078 VAR_064398 p.Asp664Gly LB/B rs79705698 - CEP290 O15078 VAR_064399 p.Ala1566Pro US - Leber congenital amaurosis 10 (LCA10) [MIM:611755] CEP290 O15078 VAR_064400 p.Leu1694Pro US - Leber congenital amaurosis 10 (LCA10) [MIM:611755] CEP290 O15078 VAR_064401 p.Asn2228Lys LB/B rs373711746 - CEP290 O15078 VAR_066997 p.Arg2210Cys LB/B rs374852145 - CEP290 O15078 VAR_067192 p.Ser2263Gly US rs77778467 Leber congenital amaurosis 10 (LCA10) [MIM:611755] CEP290 O15078 VAR_068168 p.Glu534Lys LP/P rs895126773 Joubert syndrome 5 (JBTS5) [MIM:610188] CEP290 O15078 VAR_075696 p.Ile2134Thr LP/P rs117852025 Joubert syndrome 5 (JBTS5) [MIM:610188] CEP290 O15078 VAR_087300 p.Gln819Leu US - Meckel syndrome 4 (MKS4) [MIM:611134] CEP290 O15078 VAR_087301 p.Thr1602Met US - Meckel syndrome 4 (MKS4) [MIM:611134] CEP295 Q9C0D2 VAR_059337 p.Gln80Lys LB/B rs7128850 - CEP295 Q9C0D2 VAR_059338 p.Arg208Gln LB/B rs10831088 - CEP295 Q9C0D2 VAR_059339 p.Ala499Glu LB/B rs4753495 - CEP295 Q9C0D2 VAR_059340 p.Glu1026Lys LB/B rs3802771 - CEP295 Q9C0D2 VAR_059341 p.Ala1270Gly LB/B rs2298707 - CEP295 Q9C0D2 VAR_059342 p.Gly1441Glu LB/B rs3802773 - CEP295 Q9C0D2 VAR_059343 p.Leu1459Arg LB/B rs3802774 - CEP350 Q5VT06 VAR_026126 p.Glu945Gln LB/B rs2477120 - CEP350 Q5VT06 VAR_048671 p.Thr1445Ala LB/B rs16855164 - CEP350 Q5VT06 VAR_059202 p.Arg892Thr LB/B rs6692219 - CEP350 Q5VT06 VAR_059203 p.Gly1213Val LB/B rs12125245 - CEP350 Q5VT06 VAR_059204 p.Thr1446Ala LB/B rs16855164 - CEP350 Q5VT06 VAR_059205 p.Ser1517Ala LB/B rs12124336 - CEP350 Q5VT06 VAR_061092 p.Thr2044Pro LB/B rs56173179 - CEP41 Q9BYV8 VAR_067053 p.Met36Thr LB/B rs368178632 - CEP41 Q9BYV8 VAR_067054 p.Gln89Glu US - - CEP41 Q9BYV8 VAR_067055 p.Arg179His LB/B rs140259402 - CEP41 Q9BYV8 VAR_067056 p.Pro206Ala US rs143303575 - CEP41 Q9BYV8 VAR_067057 p.Cys240Gly US rs113941736 - CEP41 Q9BYV8 VAR_067058 p.Arg360Cys LB/B rs371812716 - CEP43 O95684 VAR_051000 p.Lys271Asn LB/B rs17856382 - CEP43 O95684 VAR_061651 p.Ala190Gly LB/B rs34617108 - CEP44 Q9C0F1 VAR_033116 p.Gly147Ser LB/B rs4695918 - CEP55 Q53EZ4 VAR_022996 p.Thr99Ala LB/B rs7080916 - CEP55 Q53EZ4 VAR_022997 p.His378Leu LB/B rs2293277 - CEP55 Q53EZ4 VAR_026559 p.His57Gln LB/B rs3740370 - CEP55 Q53EZ4 VAR_056791 p.Cys236Arg LB/B rs7072484 - CEP57 Q86XR8 VAR_059839 p.Arg448Gly LB/B rs644799 - CEP57L1 Q8IYX8 VAR_052396 p.Asp194Glu LB/B rs351733 - CEP63 Q96MT8 VAR_020604 p.Ser651Leu LB/B rs1127826 - CEP68 Q76N32 VAR_022363 p.Gly74Ser LB/B rs7572857 - CEP68 Q76N32 VAR_050794 p.Arg27Gly LB/B rs12611491 - CEP68 Q76N32 VAR_050795 p.Leu397Pro LB/B rs35501092 - CEP68 Q76N32 VAR_050796 p.Arg462Cys LB/B rs35694840 - CEP68 Q76N32 VAR_050797 p.Glu473Gln LB/B rs35089924 - CEP70 Q8NHQ1 VAR_021177 p.Ser135Asn LB/B rs1673607 - CEP70 Q8NHQ1 VAR_061590 p.Asn537Ser LB/B rs35340237 - CEP72 Q9P209 VAR_050798 p.Pro238Leu LB/B rs869955 - CEP72 Q9P209 VAR_050799 p.Pro412Thr LB/B rs12522955 - CEP72 Q9P209 VAR_050800 p.Thr509Ala LB/B rs868649 - CEP83 Q9Y592 VAR_058397 p.Gln78Arg LB/B rs2271979 - CEP83 Q9Y592 VAR_071266 p.Leu87Pro LP/P - Nephronophthisis 18 (NPHP18) [MIM:615862] CEP83 Q9Y592 VAR_071268 p.Arg511Pro LP/P rs587777487 Nephronophthisis 18 (NPHP18) [MIM:615862] CEP85 Q6P2H3 VAR_033665 p.Ala542Thr LB/B rs7550997 - CEP85 Q6P2H3 VAR_053938 p.Arg48His LB/B rs35831900 - CEP85 Q6P2H3 VAR_053939 p.Ser213Asn LB/B rs3795686 - CEP85 Q6P2H3 VAR_053940 p.Gln668His LB/B rs36013141 - CEP85L Q5SZL2 VAR_034670 p.Ser137Gly LB/B rs3734381 - CEP85L Q5SZL2 VAR_034671 p.Asp166Val LB/B rs9489444 - CEP85L Q5SZL2 VAR_034672 p.Pro251Thr LB/B rs3734382 - CEP85L Q5SZL2 VAR_036247 p.Ser345Phe US - A breast cancer sample CEP85L Q5SZL2 VAR_053941 p.Gln532His LB/B rs9489410 - CEP85L Q5SZL2 VAR_053942 p.Met640Val LB/B rs7743702 - CEP85L Q5SZL2 VAR_084269 p.Ser58Cys LP/P - Lissencephaly 10 (LIS10) [MIM:618873] CEP85L Q5SZL2 VAR_084270 p.Asp65Asn LP/P rs1774229245 Lissencephaly 10 (LIS10) [MIM:618873] CEP85L Q5SZL2 VAR_084271 p.Ile68Thr US rs1774228957 Lissencephaly 10 (LIS10) [MIM:618873] CEP85L Q5SZL2 VAR_084272 p.Gly69Arg US - Lissencephaly 10 (LIS10) [MIM:618873] CEP89 Q96ST8 VAR_063122 p.Arg194Trp LB/B rs3764633 - CEP89 Q96ST8 VAR_063123 p.Val398Ala LB/B rs4805825 - CEP95 Q96GE4 VAR_033666 p.Met165Ile LB/B rs9910506 - CEP95 Q96GE4 VAR_050751 p.Ala811Val LB/B rs11550922 - CER1 O95813 VAR_021591 p.Arg19Trp LB/B rs10115703 - CER1 O95813 VAR_021592 p.Ala65Gly LB/B rs3747532 - CER1 O95813 VAR_021593 p.Val179Ile LB/B rs7036635 - CERK Q8TCT0 VAR_053685 p.Ile191Val LB/B rs16995615 - CERK Q8TCT0 VAR_053686 p.Thr211Met LB/B rs9306515 - CERK Q8TCT0 VAR_053687 p.Leu306Phe LB/B rs13057352 - CERKL Q49MI3 VAR_053688 p.Leu232Phe LB/B rs10185262 - CERKL Q49MI3 VAR_053689 p.Glu514Gly LB/B rs35955809 - CERKL Q49MI3 VAR_065182 p.Arg106Ser LP/P rs569826109 Retinitis pigmentosa 26 (RP26) [MIM:608380] CERS1 P27544 VAR_073336 p.His183Gln LP/P rs200024180 Epilepsy, progressive myoclonic 8 (EPM8) [MIM:616230] CERS1 P27544 VAR_085037 p.Leu68Met US - Epilepsy, progressive myoclonic 8 (EPM8) [MIM:616230] CERS2 Q96G23 VAR_052325 p.Glu115Ala LB/B rs267738 - CERS3 Q8IU89 VAR_019328 p.Arg370Gly LB/B rs2439928 - CERS3 Q8IU89 VAR_057276 p.Asp342Gly LB/B rs1023783 - CERS3 Q8IU89 VAR_061847 p.Tyr45Cys LB/B rs60405735 - CERS4 Q9HA82 VAR_019556 p.Gly301Ser LB/B rs2288413 - CERS4 Q9HA82 VAR_019557 p.Ala366Thr LB/B rs36259 - CERS4 Q9HA82 VAR_034065 p.Arg119Gln LB/B rs17159388 - CERS4 Q9HA82 VAR_060263 p.Ala353Val LB/B rs17160348 - CERS4 Q9HA82 VAR_060264 p.Arg379Gln LB/B rs17160349 - CERS5 Q8N5B7 VAR_019558 p.Cys75Arg LB/B rs7302981 - CERT1 Q9Y5P4 VAR_061815 p.Lys599Arg LB/B rs55882089 - CERT1 Q9Y5P4 VAR_069403 p.Ser138Cys US - - CERT1 Q9Y5P4 VAR_073721 p.Ser132Leu LP/P rs1064794019 Intellectual developmental disorder, autosomal dominant 34 (MRD34) [MIM:616351] CERT1 Q9Y5P4 VAR_078652 p.Gly243Arg LP/P - Intellectual developmental disorder, autosomal dominant 34 (MRD34) [MIM:616351] CES1 P23141 VAR_014314 p.Ser75Asn LB/B rs2307240 - CES1 P23141 VAR_014594 p.Arg199His LB/B rs2307243 - CES1 P23141 VAR_014595 p.Asp203Glu LB/B rs2307227 - CES1 P23141 VAR_046954 p.Gly143Glu LB/B rs71647871 - CES2 O00748 VAR_018396 p.Arg34Trp LB/B rs72547531 - CES2 O00748 VAR_018397 p.Arg206His LB/B rs8192924 - CES3 Q6UWW8 VAR_060699 p.Val129Ile LB/B rs61745806 - CES3 Q6UWW8 VAR_060700 p.Ala151Thr LB/B rs71647891 - CES3 Q6UWW8 VAR_060701 p.Tyr160His LB/B rs71647892 - CES3 Q6UWW8 VAR_060702 p.Glu191Lys LB/B rs61742964 - CES3 Q6UWW8 VAR_060703 p.Ile213Asn LB/B rs71647894 - CES3 Q6UWW8 VAR_060704 p.Arg367Trp LB/B rs61743167 - CES3 Q6UWW8 VAR_060705 p.Ala523Val LB/B rs71649615 - CES3 Q6UWW8 VAR_060706 p.Ile555Val LB/B rs8059252 - CES5A Q6NT32 VAR_036836 p.Arg71Gln LB/B rs2397965 - CES5A Q6NT32 VAR_036837 p.Glu261Lys LB/B rs11076126 - CES5A Q6NT32 VAR_036838 p.His344Gln LB/B rs11860946 - CES5A Q6NT32 VAR_036839 p.Gly499Arg LB/B rs16955812 - CES5A Q6NT32 VAR_036840 p.Asp537Glu LB/B rs11860456 - CETN3 O15182 VAR_030846 p.Val10Leu LB/B rs4873 - CETP P11597 VAR_004172 p.Asp459Gly LP/P rs2303790 Hyperalphalipoproteinemia 1 (HALP1) [MIM:143470] CETP P11597 VAR_013919 p.Gly331Ser LB/B rs5881 - CETP P11597 VAR_013920 p.Ala390Pro LB/B rs5880 - CETP P11597 VAR_013921 p.Val422Ile LB/B rs5882 - CETP P11597 VAR_013922 p.Arg468Gln LB/B rs1800777 - CETP P11597 VAR_013923 p.Val486Met LB/B rs5887 - CETP P11597 VAR_017018 p.Ala15Gly LB/B rs34065661 - CETP P11597 VAR_017019 p.Val385Met LB/B rs34855278 - CETP P11597 VAR_031127 p.Val455Met LB/B rs2228667 - CETP P11597 VAR_033098 p.Arg154Trp LB/B rs34716057 - CETP P11597 VAR_033099 p.Leu168Pro LP/P - Hyperalphalipoproteinemia 1 (HALP1) [MIM:143470] CETP P11597 VAR_033100 p.Arg299Cys LP/P rs142459781 Hyperalphalipoproteinemia 1 (HALP1) [MIM:143470] CFAP157 Q5JU67 VAR_050845 p.Tyr483Ser LB/B rs497632 - CFAP161 Q6P656 VAR_050883 p.Pro284Ser LB/B rs2279997 - CFAP206 Q8IYR0 VAR_033679 p.Arg154Lys LB/B rs13219364 - CFAP206 Q8IYR0 VAR_033680 p.Gly170Ala LB/B rs16879281 - CFAP20DC Q6ZVT6 VAR_056772 p.Ser158Arg LB/B rs13324082 - CFAP20DC Q6ZVT6 VAR_056773 p.Asp304Glu LB/B rs35778488 - CFAP20DC Q6ZVT6 VAR_061575 p.Val387Met LB/B rs34631714 - CFAP20DC Q6ZVT6 VAR_061576 p.Ser404Asn LB/B rs34322986 - CFAP221 Q4G0U5 VAR_039232 p.Val637Ile LB/B rs2272058 - CFAP221 Q4G0U5 VAR_039233 p.Met795Ile LB/B rs11686014 - CFAP251 Q8TBY9 VAR_034623 p.Glu61Gly LB/B rs12824001 - CFAP251 Q8TBY9 VAR_034624 p.Thr383Met LB/B rs34768683 - CFAP251 Q8TBY9 VAR_034625 p.Leu445Phe LB/B rs11043265 - CFAP251 Q8TBY9 VAR_060044 p.Gly66Glu LB/B rs12824001 - CFAP276 Q5T5A4 VAR_082033 p.Lys28Ile LB/B rs1553246861 - CFAP276 Q5T5A4 VAR_082034 p.Ile122Asn LB/B rs1553246716 - CFAP298 P57076 VAR_070200 p.Arg33Trp LB/B rs753786167 - CFAP298 P57076 VAR_070201 p.Asp141Gly US rs140727644 Ciliary dyskinesia, primary, 26 (CILD26) [MIM:615500] CFAP298 P57076 VAR_070202 p.Asp173Tyr LB/B rs540473945 - CFAP299 Q6V702 VAR_034913 p.Thr138Met LB/B rs11947742 - CFAP299 Q6V702 VAR_034914 p.Val220Ile LB/B rs1052325 - CFAP300 Q9BRQ4 VAR_080475 p.His259Arg LP/P rs1555071691 Ciliary dyskinesia, primary, 38 (CILD38) [MIM:618063] CFAP36 Q96G28 VAR_030795 p.Asp243Gly LB/B rs1045910 - CFAP36 Q96G28 VAR_030796 p.Ile246Phe LB/B rs1045920 - CFAP36 Q96G28 VAR_050725 p.Glu6Asp LB/B rs34891804 - CFAP410 O43822 VAR_016155 p.Thr150Ile LB/B rs2277809 - CFAP410 O43822 VAR_050927 p.Gly153Ser LB/B rs9306099 - CFAP410 O43822 VAR_075924 p.Arg73Pro LP/P rs140451304 Spondylometaphyseal dysplasia, axial (SMDAX) [MIM:602271] CFAP410 O43822 VAR_075925 p.Tyr107His LP/P rs763623409 Spondylometaphyseal dysplasia, axial (SMDAX) [MIM:602271] CFAP410 O43822 VAR_075926 p.Pro116Leu LP/P rs922930539 Spondylometaphyseal dysplasia, axial (SMDAX) [MIM:602271] CFAP410 O43822 VAR_075927 p.Leu224Pro LP/P rs1114167892 Spondylometaphyseal dysplasia, axial (SMDAX) [MIM:602271] CFAP410 O43822 VAR_079180 p.Cys61Tyr LP/P rs1057518441 Retinal dystrophy with or without macular staphyloma (RDMS) [MIM:617547] CFAP410 O43822 VAR_079181 p.Tyr107Cys LP/P rs1131690801 Retinal dystrophy with or without macular staphyloma (RDMS) [MIM:617547] CFAP410 O43822 VAR_079182 p.Val111Met LP/P rs555164150 Spondylometaphyseal dysplasia, axial (SMDAX) [MIM:602271] CFAP418 Q96NL8 VAR_033683 p.Pro19Ala LB/B rs36096184 - CFAP418 Q96NL8 VAR_067305 p.Arg177Trp LP/P rs387907136 Bardet-Biedl syndrome 21 (BBS21) [MIM:617406] CFAP418 Q96NL8 VAR_067305 p.Arg177Trp LP/P rs387907136 Cone-rod dystrophy 16 (CORD16) [MIM:614500] CFAP418 Q96NL8 VAR_067306 p.Gln182Arg LP/P rs387907137 Retinitis pigmentosa 64 (RP64) [MIM:614500] CFAP43 Q8NDM7 VAR_037130 p.Ile393Thr LB/B rs10883979 - CFAP43 Q8NDM7 VAR_037131 p.Leu616Phe LB/B rs35901897 - CFAP43 Q8NDM7 VAR_037132 p.Val634Ile LB/B rs17116635 - CFAP43 Q8NDM7 VAR_037133 p.Ala835Ser LB/B rs12262825 - CFAP43 Q8NDM7 VAR_080878 p.Arg85Trp US rs376788209 Spermatogenic failure 19 (SPGF19) [MIM:617592] CFAP43 Q8NDM7 VAR_080879 p.Ser129Tyr US rs1131692266 Spermatogenic failure 19 (SPGF19) [MIM:617592] CFAP43 Q8NDM7 VAR_080880 p.Val347Ala US rs147356105 Spermatogenic failure 19 (SPGF19) [MIM:617592] CFAP44 Q96MT7 VAR_053435 p.Lys284Asn LB/B rs16845107 - CFAP44 Q96MT7 VAR_062105 p.Lys53Glu LB/B rs59722850 - CFAP45 Q9UL16 VAR_059600 p.Glu291Gly LB/B rs16842789 - CFAP46 Q8IYW2 VAR_023208 p.Ala2331Thr LB/B rs4880433 - CFAP46 Q8IYW2 VAR_023209 p.Ser2540Gly LB/B rs2254419 - CFAP46 Q8IYW2 VAR_046201 p.Ser264Asn LB/B rs12781609 - CFAP46 Q8IYW2 VAR_056823 p.Cys2125Arg LB/B rs10870341 - CFAP46 Q8IYW2 VAR_056824 p.Glu2249Lys LB/B rs12356978 - CFAP46 Q8IYW2 VAR_056825 p.Leu2499Phe LB/B rs3750587 - CFAP46 Q8IYW2 VAR_056826 p.Lys2658Gln LB/B rs35981039 - CFAP47 Q6ZTR5 VAR_056856 p.Val236Met LB/B rs2336029 - CFAP47 Q6ZTR5 VAR_060280 p.Cys345Arg LB/B rs6632427 - CFAP47 Q6ZTR5 VAR_060281 p.Ala561Thr LB/B rs11795910 - CFAP47 Q6ZTR5 VAR_060282 p.His634Tyr LB/B rs17852470 - CFAP47 Q6ZTR5 VAR_085272 p.Ser1742Gly US rs1214810484 Spermatogenic failure, X-linked, 3 (SPGFX3) [MIM:301059] CFAP47 Q6ZTR5 VAR_085273 p.Ile2385Asn US rs1940460729 Spermatogenic failure, X-linked, 3 (SPGFX3) [MIM:301059] CFAP47 Q6ZTR5 VAR_085274 p.Pro2890Thr US rs1317932026 Spermatogenic failure, X-linked, 3 (SPGFX3) [MIM:301059] CFAP52 Q8N1V2 VAR_026057 p.Glu336Lys LB/B rs6503235 - CFAP52 Q8N1V2 VAR_085332 p.Gly271Arg LP/P rs140921334 Heterotaxy, visceral, 10, autosomal, with male infertility (HTX10) [MIM:619607] CFAP53 Q96M91 VAR_050746 p.Arg231Cys LB/B rs12607385 - CFAP53 Q96M91 VAR_050747 p.Glu294Lys LB/B rs35193847 - CFAP53 Q96M91 VAR_077590 p.Arg158Gly US rs886037751 Heterotaxy, visceral, 6, autosomal (HTX6) [MIM:614779] CFAP54 Q96N23 VAR_056834 p.Pro11Ser LB/B rs3809197 - CFAP54 Q96N23 VAR_056835 p.Thr558Ala LB/B rs2160501 - CFAP54 Q96N23 VAR_056836 p.Leu562Phe LB/B rs2160502 - CFAP57 Q96MR6 VAR_026850 p.Ala183Ser LB/B rs6663799 - CFAP57 Q96MR6 VAR_026851 p.Asn241Asp LB/B rs663824 - CFAP57 Q96MR6 VAR_026852 p.Cys345Ser LB/B rs11210805 - CFAP57 Q96MR6 VAR_066494 p.Asp523Tyr US rs387907122 - CFAP58 Q5T655 VAR_030255 p.Ser496Thr LB/B rs11192036 - CFAP58 Q5T655 VAR_030256 p.Gln804His LB/B rs7087328 - CFAP58 Q5T655 VAR_085546 p.Ser108Leu US - Spermatogenic failure 49 (SPGF49) [MIM:619144] CFAP58 Q5T655 VAR_085547 p.Arg619Trp US rs377507907 Spermatogenic failure 49 (SPGF49) [MIM:619144] CFAP58 Q5T655 VAR_085548 p.Tyr628Cys US - Spermatogenic failure 49 (SPGF49) [MIM:619144] CFAP58 Q5T655 VAR_085549 p.Ala674Ser US - Spermatogenic failure 49 (SPGF49) [MIM:619144] CFAP61 Q8NHU2 VAR_027981 p.Pro74Arg LB/B rs17852602 - CFAP61 Q8NHU2 VAR_027982 p.His254Arg LB/B rs6075614 - CFAP61 Q8NHU2 VAR_027983 p.Val369Ile LB/B rs6081901 - CFAP61 Q8NHU2 VAR_027984 p.Pro371Leu LB/B rs6075628 - CFAP61 Q8NHU2 VAR_027985 p.Asp505Glu LB/B rs7344530 - CFAP61 Q8NHU2 VAR_027986 p.Pro660Leu LB/B rs6081930 - CFAP61 Q8NHU2 VAR_027987 p.Val671Ile LB/B rs6046740 - CFAP61 Q8NHU2 VAR_069396 p.Thr790Pro LB/B - - CFAP61 Q8NHU2 VAR_088627 p.Arg552Cys US - Spermatogenic failure 84 (SPGF84) [MIM:620409] CFAP61 Q8NHU2 VAR_088628 p.Gly556Arg US - Spermatogenic failure 84 (SPGF84) [MIM:620409] CFAP61 Q8NHU2 VAR_088629 p.Asp971Asn US - Spermatogenic failure 84 (SPGF84) [MIM:620409] CFAP65 Q6ZU64 VAR_032500 p.Met66Leu LB/B rs6736922 - CFAP65 Q6ZU64 VAR_050726 p.Val672Ile LB/B rs13403802 - CFAP65 Q6ZU64 VAR_050727 p.Lys806Met LB/B rs9653262 - CFAP65 Q6ZU64 VAR_050728 p.Asn1858Ser LB/B rs11893183 - CFAP65 Q6ZU64 VAR_083171 p.Asn1007Lys US - Spermatogenic failure 40 (SPGF40) [MIM:618664] CFAP65 Q6ZU64 VAR_083172 p.Leu1016Arg US - Spermatogenic failure 40 (SPGF40) [MIM:618664] CFAP65 Q6ZU64 VAR_083656 p.Asp639Glu LB/B - - CFAP65 Q6ZU64 VAR_083657 p.Ile1240Phe LB/B - - CFAP68 Q9H5F2 VAR_050861 p.Lys49Gln LB/B rs11540721 - CFAP68 Q9H5F2 VAR_050862 p.Gln85His LB/B rs3180820 - CFAP68 Q9H5F2 VAR_054163 p.Val40Ala LB/B rs9280 - CFAP69 A5D8W1 VAR_039219 p.Ser22Arg LB/B rs17862129 - CFAP69 A5D8W1 VAR_039220 p.Arg306Cys LB/B rs17866223 - CFAP69 A5D8W1 VAR_039221 p.Pro459Leu LB/B rs17865959 - CFAP69 A5D8W1 VAR_039222 p.Val490Met LB/B rs1029365 - CFAP69 A5D8W1 VAR_039223 p.Thr885Met LB/B rs1134956 - CFAP70 Q5T0N1 VAR_032877 p.Trp849Leu LB/B rs12256262 - CFAP70 Q5T0N1 VAR_032878 p.Asn944Asp LB/B rs4294502 - CFAP70 Q5T0N1 VAR_083155 p.Phe60Ile US - Spermatogenic failure 41 (SPGF41) [MIM:618670] CFAP74 Q9C0B2 VAR_039873 p.Ser50Ile LB/B rs13303083 - CFAP74 Q9C0B2 VAR_039874 p.Ile363Val LB/B rs16824588 - CFAP74 Q9C0B2 VAR_039875 p.Gly628Cys LB/B rs3820011 - CFAP74 Q9C0B2 VAR_088022 p.Arg218Trp US - Ciliary dyskinesia, primary, 49, without situs inversus (CILD49) [MIM:620197] CFAP74 Q9C0B2 VAR_088023 p.Gly328Asp US - Ciliary dyskinesia, primary, 49, without situs inversus (CILD49) [MIM:620197] CFAP74 Q9C0B2 VAR_088024 p.Asp1178Asn US - Ciliary dyskinesia, primary, 49, without situs inversus (CILD49) [MIM:620197] CFAP74 Q9C0B2 VAR_088025 p.Ser1444Thr US - Ciliary dyskinesia, primary, 49, without situs inversus (CILD49) [MIM:620197] CFAP77 Q6ZQR2 VAR_039959 p.Gly137Arg LB/B rs7047726 - CFAP77 Q6ZQR2 VAR_039960 p.Arg172Trp US rs149346027 A colorectal cancer sample CFAP77 Q6ZQR2 VAR_039961 p.Arg184His LB/B rs11243798 - CFAP77 Q6ZQR2 VAR_062164 p.Lys244Gln LB/B rs34650498 - CFAP90 A4QMS7 VAR_043546 p.Gln68His LB/B rs6883562 - CFAP90 A4QMS7 VAR_043547 p.Glu87Lys LB/B rs16879215 - CFAP90 A4QMS7 VAR_043548 p.Pro139Ser LB/B rs326181 - CFAP91 Q7Z4T9 VAR_030243 p.Ala207Pro LB/B rs6438544 - CFAP91 Q7Z4T9 VAR_030244 p.Ser253Thr LB/B rs9817771 - CFAP91 Q7Z4T9 VAR_030245 p.Ser320Cys LB/B rs9819218 - CFAP97 Q9P2B7 VAR_036915 p.Thr238Ala LB/B rs1133657 - CFAP97 Q9P2B7 VAR_036916 p.Leu443Ser LB/B rs6820332 - CFB P00751 VAR_006492 p.Trp28Arg LB/B - - CFB P00751 VAR_006493 p.Trp28Gln LB/B - - CFB P00751 VAR_006494 p.Arg32Gln LB/B rs641153 - CFB P00751 VAR_006495 p.Ala736Ser LB/B - - CFB P00751 VAR_016274 p.Leu9His LB/B rs4151667 - CFB P00751 VAR_016275 p.Arg32Trp LB/B rs12614 - CFB P00751 VAR_016276 p.Gly252Ser LB/B rs4151651 - CFB P00751 VAR_016277 p.Lys565Glu LB/B rs4151659 - CFB P00751 VAR_016278 p.Asp651Glu LB/B rs4151660 - CFB P00751 VAR_063221 p.Phe286Leu LP/P rs117905900 Hemolytic uremic syndrome, atypical, 4 (AHUS4) [MIM:612924] CFB P00751 VAR_063222 p.Lys323Glu LP/P rs121909748 Hemolytic uremic syndrome, atypical, 4 (AHUS4) [MIM:612924] CFB P00751 VAR_063659 p.Ser166Pro LP/P - Hemolytic uremic syndrome, atypical, 4 (AHUS4) [MIM:612924] CFB P00751 VAR_063660 p.Arg203Gln LP/P rs745794224 Hemolytic uremic syndrome, atypical, 4 (AHUS4) [MIM:612924] CFB P00751 VAR_063661 p.Ile242Leu LP/P rs144812066 Hemolytic uremic syndrome, atypical, 4 (AHUS4) [MIM:612924] CFB P00751 VAR_063662 p.Lys323Gln LP/P - Hemolytic uremic syndrome, atypical, 4 (AHUS4) [MIM:612924] CFB P00751 VAR_063663 p.Met458Ile LP/P rs200837114 Hemolytic uremic syndrome, atypical, 4 (AHUS4) [MIM:612924] CFB P00751 VAR_063664 p.Lys533Arg LP/P rs149101394 Hemolytic uremic syndrome, atypical, 4 (AHUS4) [MIM:612924] CFC1 P0CG37 VAR_024322 p.Arg78Trp LB/B rs2579433 - CFC1 P0CG37 VAR_024323 p.Arg112Cys LP/P rs104893611 Heterotaxy, visceral, 2, autosomal (HTX2) [MIM:605376] CFC1 P0CG37 VAR_024324 p.Arg189Cys LB/B rs1350439781 - CFD P00746 VAR_034866 p.Val213Gly LP/P rs267606720 Complement factor D deficiency (CFDD) [MIM:613912] CFD P00746 VAR_034867 p.Cys214Arg LP/P rs267606721 Complement factor D deficiency (CFDD) [MIM:613912] CFD P00746 VAR_034868 p.Ile248Met LB/B rs2230216 - CFDP1 Q9UEE9 VAR_048408 p.Ala60Thr LB/B rs16963331 - CFH P08603 VAR_001979 p.Tyr402His LB/B rs1061170 - CFH P08603 VAR_019405 p.Cys536Arg LP/P rs121913052 Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_019406 p.Cys959Tyr LP/P rs121913053 Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_019407 p.Leu1189Arg LP/P rs121913055 Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_019408 p.Ser1191Leu LP/P rs460897 Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_020261 p.Glu936Asp LB/B rs1065489 - CFH P08603 VAR_023836 p.Val62Ile LB/B rs800292 - CFH P08603 VAR_025092 p.Ile551Thr LB/B rs35453854 - CFH P08603 VAR_025093 p.Ser890Ile LB/B rs515299 - CFH P08603 VAR_025094 p.Val1007Ile LB/B - - CFH P08603 VAR_025095 p.Thr1017Ile LB/B rs34362004 - CFH P08603 VAR_025096 p.Asn1050Tyr LB/B rs35274867 - CFH P08603 VAR_025097 p.Ile1059Thr LB/B rs35343172 - CFH P08603 VAR_025864 p.Arg78Gly LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025865 p.Cys630Trp LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025866 p.Glu850Lys LP/P rs762443267 Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025867 p.Gln950His LP/P rs149474608 Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025868 p.Tyr951His LP/P rs777049051 Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025869 p.Thr956Met LP/P rs145975787 Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025870 p.Trp978Cys LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025871 p.Tyr1021Phe LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025872 p.Cys1043Arg LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025873 p.Gln1076Glu LP/P rs62625015 Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_025874 p.Asp1119Gly LP/P rs575109631 Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_025875 p.Val1134Gly LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025876 p.Tyr1142Asp LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025877 p.Trp1157Arg LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025878 p.Cys1163Trp LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025879 p.Trp1183Leu LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025880 p.Trp1183Arg LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025881 p.Thr1184Arg LP/P - Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_025882 p.Gly1194Asp LP/P rs761877050 Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025883 p.Val1197Ala LP/P rs460184 Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025884 p.Glu1198Ala LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025885 p.Arg1210Cys LP/P rs121913059 Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_025885 p.Arg1210Cys LP/P rs121913059 Macular degeneration, age-related, 4 (ARMD4) [MIM:610698] CFH P08603 VAR_025886 p.Arg1215Gly LP/P rs121913051 Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025887 p.Arg1215Gln LP/P - Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_025888 p.Pro1226Ser LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_031978 p.Arg127Leu LP/P rs121913058 Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_031980 p.Gln400Lys LP/P rs201671665 Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_031981 p.Cys431Ser LP/P rs121913056 Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_031982 p.Cys673Ser LP/P - Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_031983 p.Cys673Tyr LP/P rs1391815797 Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_031984 p.His893Arg LP/P rs1573076722 Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_031985 p.Cys915Ser LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_031986 p.Phe1199Ser LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_043892 p.Thr493Arg LB/B rs1061171 - CFH P08603 VAR_043893 p.Arg567Gly LB/B rs757756991 - CFH P08603 VAR_043894 p.Val1007Leu LB/B rs534399 - CFH P08603 VAR_043895 p.Arg1078Ser LB/B rs121913062 - CFH P08603 VAR_043896 p.Gln1143Glu LB/B rs15809 - CFH P08603 VAR_055683 p.Asn997Thr LB/B rs17575212 - CFH P08603 VAR_055684 p.Ala1010Thr LB/B rs11539862 - CFH P08603 VAR_063648 p.Cys325Tyr LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_063649 p.Val609Ile LP/P rs148165372 Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_063650 p.Ile1169Leu LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH P08603 VAR_063651 p.Trp1183Cys LP/P - Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFHR1 Q03591 VAR_001980 p.His157Tyr LB/B rs425757 - CFHR1 Q03591 VAR_001981 p.Leu159Val LB/B rs410232 - CFHR1 Q03591 VAR_001982 p.Glu175Gln LB/B rs388862 - CFHR1 Q03591 VAR_048816 p.Ala296Val LB/B rs16840561 - CFHR3 Q02985 VAR_048817 p.His71Tyr LB/B rs17575274 - CFHR4 Q92496 VAR_047151 p.Gly553Glu LB/B rs10494745 - CFHR4 Q92496 VAR_070195 p.Glu125Asp LB/B rs10801578 - CFHR4 Q92496 VAR_070196 p.Asn210Ser LB/B rs7417769 - CFHR5 Q9BXR6 VAR_035827 p.Asn216Ser US rs147488267 A breast cancer sample CFHR5 Q9BXR6 VAR_048818 p.Pro46Ser LB/B rs12097550 - CFHR5 Q9BXR6 VAR_048819 p.Arg356His LB/B rs35662416 - CFHR5 Q9BXR6 VAR_048820 p.Leu521Ile LB/B rs35957013 - CFHR5 Q9BXR6 VAR_048821 p.Leu529Arg LB/B rs16840956 - CFHR5 Q9BXR6 VAR_063652 p.Tyr277Asn LB/B rs318240756 - CFHR5 Q9BXR6 VAR_063653 p.Val379Leu LB/B rs111327589 - CFHR5 Q9BXR6 VAR_069090 p.Leu105Arg LB/B rs318240754 - CFHR5 Q9BXR6 VAR_069091 p.Ser195Thr LB/B rs318240755 - CFHR5 Q9BXR6 VAR_069092 p.Trp436Cys LB/B rs201265664 - CFI P05156 VAR_026757 p.His418Leu LP/P rs121964912 Complement factor I deficiency (CFI deficiency) [MIM:610984] CFI P05156 VAR_030343 p.Ile340Thr LP/P rs769419740 Hemolytic uremic syndrome, atypical, 3 (AHUS3) [MIM:612923] CFI P05156 VAR_030344 p.Asp524Val LP/P rs121964914 Hemolytic uremic syndrome, atypical, 3 (AHUS3) [MIM:612923] CFI P05156 VAR_034907 p.Gly243Asp LP/P rs121964916 Complement factor I deficiency (CFI deficiency) [MIM:610984] CFI P05156 VAR_034908 p.Thr300Ala LB/B rs11098044 - CFI P05156 VAR_063665 p.Pro64Leu LP/P rs773187287 Hemolytic uremic syndrome, atypical, 3 (AHUS3) [MIM:612923] CFI P05156 VAR_063666 p.Gly119Arg LP/P rs141853578 Hemolytic uremic syndrome, atypical, 3 (AHUS3) [MIM:612923] CFI P05156 VAR_063666 p.Gly119Arg LP/P rs141853578 Macular degeneration, age-related, 13 (ARMD13) [MIM:615439] CFI P05156 VAR_063667 p.His183Arg LP/P rs75612300 Hemolytic uremic syndrome, atypical, 3 (AHUS3) [MIM:612923] CFI P05156 VAR_063668 p.Gly287Arg LP/P rs182078921 Hemolytic uremic syndrome, atypical, 3 (AHUS3) [MIM:612923] CFI P05156 VAR_063669 p.Arg317Trp LP/P rs121964917 Hemolytic uremic syndrome, atypical, 3 (AHUS3) [MIM:612923] CFI P05156 VAR_063670 p.Ile416Leu LP/P rs61733901 Hemolytic uremic syndrome, atypical, 3 (AHUS3) [MIM:612923] CFI P05156 VAR_063671 p.Asp519Asn LP/P rs121964918 Hemolytic uremic syndrome, atypical, 3 (AHUS3) [MIM:612923] CFI P05156 VAR_063672 p.Lys522Thr LP/P - Hemolytic uremic syndrome, atypical, 3 (AHUS3) [MIM:612923] CFI P05156 VAR_070843 p.Gly188Ala LB/B - - CFL2 Q9Y281 VAR_031989 p.Ala35Thr LP/P rs80358250 Nemaline myopathy 7 (NEM7) [MIM:610687] CFL2 Q9Y281 VAR_036458 p.Ile47Met US - A breast cancer sample CFL2 Q9Y281 VAR_075983 p.Val7Met US rs397515451 Nemaline myopathy 7 (NEM7) [MIM:610687] CFLAR O15519 VAR_048619 p.Leu203Ile LB/B rs13424615 - CFP P27918 VAR_002002 p.Arg100Trp LP/P rs132630259 Properdin deficiency (PFD) [MIM:312060] CFP P27918 VAR_002003 p.Gln343Arg LP/P - Properdin deficiency (PFD) [MIM:312060] CFP P27918 VAR_002004 p.Tyr414Asp LP/P rs132630261 Properdin deficiency (PFD) [MIM:312060] CFP P27918 VAR_013139 p.Gly298Val LP/P rs28935480 Properdin deficiency (PFD) [MIM:312060] CFP P27918 VAR_020395 p.Val53Met LB/B rs8177068 - CFP P27918 VAR_020396 p.Pro204Leu LB/B rs8177076 - CFP P27918 VAR_020397 p.Gly250Ser LB/B rs8177077 - CFP P27918 VAR_035813 p.Thr3Ile US - A breast cancer sample CFP P27918 VAR_083038 p.Cys32Tyr LP/P - Properdin deficiency (PFD) [MIM:312060] CFP P27918 VAR_083039 p.Glu244Lys LP/P - Properdin deficiency (PFD) [MIM:312060] CFTR P13569 VAR_000101 p.Ser13Phe LP/P rs397508635 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000102 p.Arg31Cys LB/B rs1800073 - CFTR P13569 VAR_000103 p.Arg31Leu LP/P rs149353983 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000104 p.Ser42Phe LP/P rs143456784 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000105 p.Asp44Gly US rs1800074 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000106 p.Asp44Val LB/B rs1800074 - CFTR P13569 VAR_000107 p.Ser50Tyr LP/P rs397508220 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000108 p.Trp57Gly LP/P rs397508272 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000109 p.Pro67Leu LP/P rs368505753 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000110 p.Arg74Trp LP/P rs115545701 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000110 p.Arg74Trp LP/P rs115545701 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000111 p.Arg75Gln LP/P rs1800076 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000112 p.Gly85Glu LP/P rs75961395 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000113 p.Phe87Leu LP/P rs397508403 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000114 p.Gly91Arg LP/P rs121908750 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000115 p.Glu92Lys LP/P rs121908751 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000116 p.Gln98Arg LP/P rs397508464 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000118 p.Tyr109Cys LP/P rs121909031 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000119 p.Asp110His LP/P rs113993958 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000119 p.Asp110His LP/P rs113993958 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000120 p.Pro111Leu LP/P rs140502196 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000121 p.Arg117Cys LP/P rs77834169 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000122 p.Arg117His LP/P rs78655421 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000122 p.Arg117His LP/P rs78655421 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000123 p.Arg117Leu LP/P rs78655421 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000124 p.Arg117Pro LP/P rs78655421 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000125 p.Ala120Thr LP/P rs201958172 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000126 p.His139Arg LP/P rs76371115 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000127 p.Ala141Asp LP/P rs397508700 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000128 p.Ile148Thr US rs35516286 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000129 p.Gly149Arg LP/P rs397508718 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000130 p.Gly178Arg LP/P rs80282562 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000132 p.Glu193Lys LP/P rs397508759 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000132 p.Glu193Lys LP/P rs397508759 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000133 p.His199Gln LP/P rs397508765 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000134 p.His199Tyr LP/P rs121908802 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000135 p.Pro205Ser LP/P rs121908803 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000136 p.Leu206Trp LP/P rs121908752 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000136 p.Leu206Trp LP/P rs121908752 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000137 p.Cys225Arg US rs397508780 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000138 p.Met244Lys LP/P rs397508790 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000139 p.Arg258Gly LP/P rs191456345 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000140 p.Asn287Tyr LP/P rs397508804 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000141 p.Arg297Gln LP/P rs143486492 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000142 p.Tyr301Cys US rs150691494 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000143 p.Ser307Asn LP/P rs397508817 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000143 p.Ser307Asn LP/P rs397508817 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000144 p.Phe311Leu LP/P rs121909016 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000146 p.Gly314Glu LP/P rs75763344 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000147 p.Gly314Arg LP/P rs397508819 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000148 p.Arg334Trp LP/P rs121909011 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000148 p.Arg334Trp LP/P rs121909011 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000150 p.Ile336Lys LP/P rs397508139 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000151 p.Thr338Ile LP/P rs77409459 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000152 p.Leu346Pro LP/P rs397508146 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000153 p.Arg347His LP/P rs77932196 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000154 p.Arg347Leu LP/P rs77932196 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000155 p.Arg347Pro LP/P rs77932196 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000156 p.Arg352Gln LP/P rs121908753 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000157 p.Gln359Lys LP/P rs76879328 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000160 p.Ala455Glu LP/P rs74551128 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000161 p.Val456Phe LP/P rs397508195 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000162 p.Gly458Val LP/P rs121909009 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000163 p.Leu467Phe LB/B rs1800089 - CFTR P13569 VAR_000164 p.Val470Met LB/B rs213950 - CFTR P13569 VAR_000165 p.Gly480Cys LP/P rs79282516 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000166 p.Ser492Phe LP/P rs121909017 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000167 p.Glu504Gln LP/P rs397508223 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000168 p.Ile506Val LB/B rs1800091 - CFTR P13569 VAR_000169 p.Ile507Val LB/B rs1801178 - CFTR P13569 VAR_000172 p.Phe508Cys LB/B rs74571530 - CFTR P13569 VAR_000173 p.Asp513Gly LP/P rs397508225 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000174 p.Val520Phe LP/P rs77646904 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000175 p.Gly544Val LP/P rs397508241 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000176 p.Ser549Asn LP/P rs121908755 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000177 p.Ser549Ile LP/P rs121908755 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000178 p.Ser549Arg LP/P rs121909005 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000179 p.Gly551Asp LP/P rs75527207 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000180 p.Gly551Ser LP/P rs121909013 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000181 p.Arg553Gln LP/P rs121909044 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000182 p.Leu558Ser LP/P rs193922504 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000183 p.Ala559Thr LP/P rs75549581 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000184 p.Arg560Lys LP/P rs80055610 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000185 p.Arg560Ser LP/P rs397508267 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000186 p.Arg560Thr LP/P rs80055610 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000187 p.Val562Ile US rs1800097 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000187 p.Val562Ile US rs1800097 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000188 p.Val562Leu LP/P rs1800097 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000189 p.Tyr563Asn LP/P rs121909006 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000190 p.Tyr569Cys LP/P rs397508277 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000191 p.Tyr569Asp LP/P rs397508276 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000192 p.Tyr569His LP/P rs397508276 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000193 p.Leu571Ser LP/P rs397508280 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000194 p.Asp572Asn LP/P rs397508282 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000195 p.Pro574His LP/P rs121908758 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000196 p.Gly576Ala US rs1800098 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000197 p.Asp579Gly LP/P rs397508288 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000198 p.Ile601Phe LP/P rs397508306 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000199 p.Leu610Ser LP/P rs397508311 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000200 p.Ala613Thr LP/P rs201978662 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000201 p.Asp614Gly LP/P rs201124247 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000202 p.Ile618Thr LP/P rs139468767 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000203 p.Leu619Ser LP/P rs397508313 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000204 p.His620Pro LP/P rs397508314 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000205 p.His620Gln LP/P rs397508315 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000206 p.Gly622Asp LP/P rs121908759 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000207 p.Gly628Arg LP/P rs397508316 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000208 p.Leu633Pro LP/P rs397508318 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000209 p.Asp648Val LP/P rs121909033 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000210 p.Asp651Asn LP/P rs780526529 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000211 p.Thr665Ser US rs1177201180 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000212 p.Arg668Cys US rs1800100 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000213 p.Phe693Leu US rs145540754 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000214 p.Val754Met US rs150157202 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000215 p.Arg766Met US rs397508363 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000216 p.Arg792Gly LP/P rs145449046 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000217 p.Ala800Gly LP/P rs397508373 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000218 p.Ile807Met US rs1800103 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000219 p.Glu822Lys LP/P rs397508378 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000220 p.Glu826Lys US rs397508381 - CFTR P13569 VAR_000221 p.Cys866Tyr LP/P rs193922506 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000222 p.Ser912Leu LB/B rs121909034 - CFTR P13569 VAR_000223 p.Tyr913Cys LP/P rs121909008 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000224 p.Tyr917Cys LP/P rs397508428 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000225 p.His949Tyr LP/P rs121909035 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000226 p.Met952Ile US rs151048781 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000226 p.Met952Ile US rs151048781 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000227 p.Leu997Phe US rs1800111 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000227 p.Leu997Phe US rs1800111 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000228 p.Ile1005Arg LP/P rs397508479 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000229 p.Ala1006Glu LP/P rs397508480 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000230 p.Pro1013Leu LP/P rs193922516 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000231 p.Met1028Ile LP/P rs200553511 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000232 p.Phe1052Val LP/P rs150212784 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000233 p.Gly1061Arg LP/P rs142394380 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000234 p.Leu1065Pro LP/P rs121909036 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000235 p.Leu1065Arg LP/P rs121909036 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000236 p.Arg1066Cys LP/P rs78194216 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000237 p.Arg1066His LP/P rs121909019 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000238 p.Arg1066Leu LP/P rs121909019 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000239 p.Ala1067Thr LP/P rs121909020 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000240 p.Ala1067Val LB/B rs1800114 - CFTR P13569 VAR_000241 p.Arg1070Gln LP/P rs78769542 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000242 p.Arg1070Pro LP/P rs78769542 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000243 p.Gln1071Pro LP/P rs121909037 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000244 p.Pro1072Leu US - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000245 p.Leu1077Pro LP/P rs139304906 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000246 p.His1085Arg LP/P rs79635528 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000247 p.Trp1098Arg LP/P rs397508531 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000248 p.Met1101Lys LP/P rs36210737 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000249 p.Met1137Val LP/P rs397508553 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000251 p.Asp1152His LP/P rs75541969 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000251 p.Asp1152His LP/P rs75541969 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000252 p.Arg1162Leu LB/B rs1800120 - CFTR P13569 VAR_000253 p.Thr1220Ile LB/B rs1800123 - CFTR P13569 VAR_000254 p.Ile1234Val LP/P rs75389940 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000255 p.Ser1235Arg LP/P rs34911792 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000256 p.Gly1244Glu LP/P rs267606723 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000257 p.Gly1249Glu LP/P rs121909040 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000258 p.Ser1251Asn LP/P rs74503330 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000259 p.Ser1255Pro LP/P rs121909041 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000260 p.Asp1270Asn LP/P rs11971167 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000260 p.Asp1270Asn LP/P rs11971167 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000261 p.Trp1282Arg LP/P rs397508616 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000262 p.Arg1283Met LP/P rs77902683 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000263 p.Phe1286Ser LP/P rs121909028 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000264 p.Gln1291His LP/P rs121909015 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000265 p.Gln1291Arg LP/P rs397508621 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000266 p.Asn1303His LP/P rs121909042 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000267 p.Asn1303Lys LP/P rs80034486 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000268 p.Gly1349Asp LP/P rs193922525 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000269 p.Ala1364Val LP/P rs397508670 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000270 p.Val1397Glu LP/P rs397508691 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_009895 p.Leu138Pro LB/B rs1800078 - CFTR P13569 VAR_009896 p.Arg170His US rs1800079 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_009897 p.Ser182Gly LB/B rs1800080 - CFTR P13569 VAR_009898 p.Val322Met LB/B rs1800085 - CFTR P13569 VAR_009899 p.Thr351Ser LB/B rs1800086 - CFTR P13569 VAR_009900 p.Gln353His LB/B rs1800087 - CFTR P13569 VAR_009901 p.Ile506Met LB/B rs1800092 - CFTR P13569 VAR_009902 p.Ser654Gly LB/B rs1800099 - CFTR P13569 VAR_009903 p.Tyr903His LB/B rs1800106 - CFTR P13569 VAR_009904 p.Ser909Ile LB/B rs1800107 - CFTR P13569 VAR_009905 p.Leu967Ser LB/B rs1800110 - CFTR P13569 VAR_011564 p.Arg1070Trp LP/P rs202179988 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_011565 p.Met1101Arg LP/P rs36210737 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_048150 p.Lys532Glu LB/B rs35032490 - CFTR P13569 VAR_048151 p.Ser605Phe LB/B rs766874 - CFTR P13569 VAR_048152 p.Arg1453Trp LB/B rs4148725 - CFTR P13569 VAR_080303 p.Val232Asp LP/P rs397508783 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_080304 p.Asp443Tyr US rs147422190 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_080306 p.Ile556Val US rs75789129 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_080307 p.Ala561Glu LP/P rs121909047 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_080311 p.Val938Gly US rs193922511 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_080312 p.Ala959Val US rs397508448 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_080313 p.Ser977Phe US rs141033578 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_080315 p.Ile1027Thr LB/B rs1800112 - CFTR P13569 VAR_080316 p.Tyr1032Cys US rs144055758 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_080318 p.Gly1069Arg US rs200321110 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_080320 p.Val1153Glu US rs397508567 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_080322 p.Lys1200Glu US - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_080325 p.Gln1352His US rs113857788 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CGAS Q8N884 VAR_033677 p.Pro261His LB/B rs610913 - CGAS Q8N884 VAR_050811 p.Thr35Asn LB/B rs9352000 - CGAS Q8N884 VAR_085524 p.Gly303Glu US - - CGAS Q8N884 VAR_085525 p.Lys432Thr US - - CGB1 A6NKQ9 VAR_055838 p.Pro185Ser LB/B rs35371968 - CGB3 P0DN86 VAR_003188 p.Asp137Ala LB/B rs200199557 - CGB3 P0DN86 VAR_014585 p.Phe4Leu LB/B rs767100833 - CGB3 P0DN86 VAR_014586 p.Lys22Arg LB/B rs201575305 - CGB3 P0DN86 VAR_014587 p.Thr35Ile LB/B rs201780746 - CGB3 P0DN86 VAR_015231 p.Thr18Ala LB/B rs201240617 - CGB3 P0DN86 VAR_015232 p.Pro24Met US - - CGB3 P0DN86 VAR_015233 p.Arg28Trp LB/B rs1261895475 - CGB3 P0DN86 VAR_015234 p.Arg30His LB/B rs201373221 - CGB3 P0DN86 VAR_015235 p.Ser147Cys LB/B - - CGN Q9P2M7 VAR_057809 p.Arg485Gln LB/B rs12038198 - CGNL1 Q0VF96 VAR_037606 p.Thr380Pro LB/B rs1280395 - CGNL1 Q0VF96 VAR_037607 p.Ser459Phe LB/B rs7182648 - CGNL1 Q0VF96 VAR_037608 p.Thr511Ala LB/B rs1280396 - CGNL1 Q0VF96 VAR_037609 p.Leu1101Val LB/B rs1620402 - CGNL1 Q0VF96 VAR_037610 p.Met1270Val LB/B rs16977594 - CGREF1 Q99674 VAR_047648 p.Ala212Val LB/B rs11893478 - CGREF1 Q99674 VAR_047649 p.Lys232Asn LB/B rs11889831 - CGREF1 Q99674 VAR_047650 p.Gly243Glu LB/B rs1057389 - CGREF1 Q99674 VAR_061088 p.Ile116Met LB/B rs2384572 - CGREF1 Q99674 VAR_081928 p.Glu226Gly LB/B rs74360681 - CGREF1 Q99674 VAR_081929 p.Lys232Glu LB/B rs11889832 - CGRRF1 Q99675 VAR_052081 p.Cys117Tyr LB/B rs11555279 - CH25H O95992 VAR_048899 p.Leu133Pro LB/B rs17117295 - CHAC2 Q8WUX2 VAR_038123 p.Arg82Gly LB/B rs17851583 - CHAD O15335 VAR_030631 p.Thr350Ile LB/B rs2231510 - CHAD O15335 VAR_052019 p.Arg312Gln LB/B rs35218093 - CHADL Q6NUI6 VAR_059805 p.Gln710Arg LB/B rs9619955 - CHADL Q6NUI6 VAR_061805 p.Asp721Asn LB/B rs9619954 - CHAF1A Q13111 VAR_055329 p.Asp167Val LB/B rs35651457 - CHAF1A Q13111 VAR_055330 p.Met239Val LB/B rs2230635 - CHAF1A Q13111 VAR_055331 p.Lys850Arg LB/B rs8100525 - CHAF1A Q13111 VAR_055332 p.Ala923Val LB/B rs9352 - CHAF1A Q13111 VAR_055333 p.Ala950Ser LB/B rs243383 - CHAF1B Q13112 VAR_053387 p.Lys506Gln LB/B rs74900401 - CHAMP1 Q96JM3 VAR_027270 p.Leu568Val LB/B rs3764522 - CHAMP1 Q96JM3 VAR_027271 p.Pro604Arg LB/B rs12428067 - CHAMP1 Q96JM3 VAR_052910 p.Lys591Arg LB/B rs35564629 - CHAT P28329 VAR_011666 p.Leu210Pro LP/P rs121912820 Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210] CHAT P28329 VAR_011667 p.Pro211Ala LP/P rs121912815 Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210] CHAT P28329 VAR_011668 p.Ile305Thr LP/P rs75466054 Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210] CHAT P28329 VAR_011669 p.Arg420Cys LP/P rs121912822 Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210] CHAT P28329 VAR_011670 p.Glu441Lys LP/P rs121912816 Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210] CHAT P28329 VAR_011671 p.Arg482Gly LP/P rs121912818 Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210] CHAT P28329 VAR_011672 p.Ser498Leu LP/P rs121912821 Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210] CHAT P28329 VAR_011673 p.Val506Leu LP/P rs121912817 Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210] CHAT P28329 VAR_011674 p.Arg560His LP/P rs121912819 Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210] CHAT P28329 VAR_011675 p.Ala120Thr LB/B rs3810950 - CHAT P28329 VAR_011676 p.Ala392Gly LB/B - - CHAT P28329 VAR_038605 p.Ile336Thr LP/P rs121912823 Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210] CHAT P28329 VAR_046683 p.Asp47Glu LB/B rs3810948 - CHAT P28329 VAR_046684 p.Arg222Pro LB/B rs8178989 - CHAT P28329 VAR_046685 p.Leu243Phe LB/B rs8178990 - CHAT P28329 VAR_046686 p.Pro299Leu LB/B rs868749 - CHAT P28329 VAR_046687 p.Asp400Asn LB/B rs8178991 - CHAT P28329 VAR_046688 p.Val461Met LB/B rs4838544 - CHCHD10 Q8WYQ3 VAR_071805 p.Pro34Ser LP/P rs551521196 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) [MIM:615911] CHCHD10 Q8WYQ3 VAR_071806 p.Ser59Leu LP/P rs587777574 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) [MIM:615911] CHCHD10 Q8WYQ3 VAR_073283 p.Arg15Ser US rs730880032 Myopathy, isolated mitochondrial, autosomal dominant (IMMD) [MIM:616209] CHCHD10 Q8WYQ3 VAR_073284 p.Gly58Arg LP/P rs730880033 Myopathy, isolated mitochondrial, autosomal dominant (IMMD) [MIM:616209] CHCHD10 Q8WYQ3 VAR_073285 p.Gly66Val LP/P rs730880031 Spinal muscular atrophy, Jokela type (SMAJ) [MIM:615048] CHCHD2 Q9Y6H1 VAR_048699 p.His78Asn LB/B rs11546418 - CHCHD2 Q9Y6H1 VAR_076293 p.Pro2Leu LB/B rs142444896 - CHCHD2 Q9Y6H1 VAR_076294 p.Gly4Arg LB/B rs778328496 - CHCHD2 Q9Y6H1 VAR_076295 p.Pro14Ser LB/B rs137965562 - CHCHD2 Q9Y6H1 VAR_076296 p.Pro34Leu LB/B rs371198317 - CHCHD2 Q9Y6H1 VAR_076297 p.Ala37Val LB/B rs1427631250 - CHCHD2 Q9Y6H1 VAR_076298 p.Ala49Val LB/B rs151213700 - CHCHD2 Q9Y6H1 VAR_076299 p.Thr61Ile LP/P rs864309650 Parkinson disease 22 (PARK22) [MIM:616710] CHCHD2 Q9Y6H1 VAR_076300 p.Ala93Val LB/B rs748182315 - CHCHD2 Q9Y6H1 VAR_076301 p.Arg145Gln US rs752169833 Parkinson disease 22 (PARK22) [MIM:616710] CHCHD6 Q9BRQ6 VAR_024412 p.Ala95Ser LB/B rs2272487 - CHD1 O14646 VAR_055652 p.Pro264Thr LB/B rs10062803 - CHD1 O14646 VAR_080265 p.Arg141Gly LP/P rs1064795875 Pilarowski-Bjornsson syndrome (PILBOS) [MIM:617682] CHD1 O14646 VAR_080266 p.Arg460Lys LP/P rs1554078856 Pilarowski-Bjornsson syndrome (PILBOS) [MIM:617682] CHD1 O14646 VAR_080267 p.Arg618Gln LP/P rs1554078349 Pilarowski-Bjornsson syndrome (PILBOS) [MIM:617682] CHD1 O14646 VAR_080268 p.Arg1708Gln LP/P rs1293161341 Pilarowski-Bjornsson syndrome (PILBOS) [MIM:617682] CHD1L Q86WJ1 VAR_042954 p.Arg25Pro LB/B rs11588753 - CHD1L Q86WJ1 VAR_042955 p.His350Gln LB/B rs17356233 - CHD1L Q86WJ1 VAR_042956 p.Glu649Ala LB/B rs13374920 - CHD1L Q86WJ1 VAR_042957 p.Ser743Cys LB/B rs2275249 - CHD1L Q86WJ1 VAR_042958 p.Ser885Ala LB/B rs4950394 - CHD1L Q86WJ1 VAR_086613 p.Arg842His LB/B rs782473109 - CHD1L Q86WJ1 VAR_086614 p.Trp852Cys LB/B rs1553974573 - CHD1L Q86WJ1 VAR_086615 p.Arg857Gln LB/B rs1180954265 - CHD1L Q86WJ1 VAR_086616 p.Arg860Trp LB/B rs139712616 - CHD2 O14647 VAR_061099 p.Gly1574Ala LB/B rs56227200 - CHD2 O14647 VAR_070209 p.Trp548Arg LP/P rs864309537 Developmental and epileptic encephalopathy 94 (DEE94) [MIM:615369] CHD2 O14647 VAR_070210 p.Leu823Pro LP/P rs864309540 Developmental and epileptic encephalopathy 94 (DEE94) [MIM:615369] CHD3 Q12873 VAR_048728 p.Ala3Val LB/B rs931543 - CHD3 Q12873 VAR_081507 p.His886Arg LP/P rs1567855081 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081508 p.Leu915Phe LP/P rs1567855669 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081509 p.Glu921Lys LP/P rs1567855704 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081510 p.Gly961Glu LP/P rs1567856045 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081511 p.Arg985Gln LP/P rs1567856331 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081512 p.Arg985Trp LP/P rs1555611722 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081514 p.Asp1120His LP/P - Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081515 p.Arg1121Pro LP/P rs1567860112 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081516 p.Thr1136Ile LP/P rs1567860640 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081517 p.Trp1158Arg LP/P rs1567860891 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081518 p.Asn1159Lys LP/P rs754919272 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081519 p.His1161Arg LP/P rs1567860919 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081520 p.Arg1169Trp LP/P rs1567861468 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081521 p.His1171Arg LP/P rs1567861489 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081522 p.Arg1172Gln LP/P rs1567861501 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081523 p.Arg1187Pro US rs1567861571 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081524 p.Leu1236Pro LP/P rs1567861894 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081525 p.Arg1342Gln LP/P rs1567863732 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3 Q12873 VAR_081526 p.Arg1881Leu LP/P rs1567877108 Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD4 Q14839 VAR_031674 p.Glu139Asp LB/B rs1639122 - CHD4 Q14839 VAR_031675 p.Ser1648Leu LB/B rs35512811 - CHD4 Q14839 VAR_031676 p.Ile1655Val LB/B rs16932768 - CHD4 Q14839 VAR_077146 p.Ser851Tyr LP/P rs886039916 Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159] CHD4 Q14839 VAR_077147 p.Gly1003Asp LP/P - Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159] CHD4 Q14839 VAR_077148 p.Arg1068His LP/P rs886039915 Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159] CHD4 Q14839 VAR_077149 p.Arg1127Gln LP/P rs886039917 Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159] CHD4 Q14839 VAR_077150 p.Trp1148Leu LP/P rs886039919 Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159] CHD4 Q14839 VAR_077151 p.Arg1173Leu LP/P rs886039918 Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159] CHD4 Q14839 VAR_077152 p.Val1608Ile US rs201992075 Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159] CHD5 Q8TDI0 VAR_035475 p.Val45Met US rs1470692239 A breast cancer sample CHD5 Q8TDI0 VAR_035476 p.Asp119Asn US - A breast cancer sample CHD5 Q8TDI0 VAR_035477 p.Arg667Gly US - A breast cancer sample CHD5 Q8TDI0 VAR_048729 p.Ser1253Ile LB/B rs6657997 - CHD5 Q8TDI0 VAR_048730 p.Ser1539Pro LB/B rs2843493 - CHD5 Q8TDI0 VAR_087312 p.Arg193Gln LP/P - Parenti-Mignot neurodevelopmental syndrome (PMNDS) [MIM:619873] CHD5 Q8TDI0 VAR_087313 p.Arg193Trp LP/P - Parenti-Mignot neurodevelopmental syndrome (PMNDS) [MIM:619873] CHD5 Q8TDI0 VAR_087314 p.Ala272Val US - Parenti-Mignot neurodevelopmental syndrome (PMNDS) [MIM:619873] CHD5 Q8TDI0 VAR_087316 p.Glu427Lys LP/P - Parenti-Mignot neurodevelopmental syndrome (PMNDS) [MIM:619873] CHD5 Q8TDI0 VAR_087318 p.Ser912Phe LP/P - Parenti-Mignot neurodevelopmental syndrome (PMNDS) [MIM:619873] CHD5 Q8TDI0 VAR_087319 p.Asp1084Asn LP/P - Parenti-Mignot neurodevelopmental syndrome (PMNDS) [MIM:619873] CHD5 Q8TDI0 VAR_087320 p.Pro1124Leu LP/P - Parenti-Mignot neurodevelopmental syndrome (PMNDS) [MIM:619873] CHD5 Q8TDI0 VAR_087321 p.Arg1136His LP/P - Parenti-Mignot neurodevelopmental syndrome (PMNDS) [MIM:619873] CHD5 Q8TDI0 VAR_087322 p.Asn1140Ile LP/P - Parenti-Mignot neurodevelopmental syndrome (PMNDS) [MIM:619873] CHD5 Q8TDI0 VAR_087323 p.Ile1419Met LP/P - Parenti-Mignot neurodevelopmental syndrome (PMNDS) [MIM:619873] CHD5 Q8TDI0 VAR_087324 p.Asp1488Val LP/P - Parenti-Mignot neurodevelopmental syndrome (PMNDS) [MIM:619873] CHD5 Q8TDI0 VAR_087325 p.Glu1714Gly LP/P - Parenti-Mignot neurodevelopmental syndrome (PMNDS) [MIM:619873] CHD6 Q8TD26 VAR_023363 p.His2161Gln LB/B rs3817893 - CHD6 Q8TD26 VAR_059213 p.Gln780His LB/B rs4474937 - CHD7 Q9P2D1 VAR_021059 p.Ile1028Val LP/P rs121434338 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_021060 p.Leu1257Arg LP/P rs121434339 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_033245 p.Trp1031Gly LP/P rs1804098617 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_033246 p.Gln1214Arg LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_033247 p.Leu1294Pro LP/P rs864309609 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_033248 p.Leu1815Pro LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_033249 p.His2096Arg LP/P rs587783451 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_033250 p.Arg2319Ser LP/P rs121434341 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_033251 p.Phe2750Leu LB/B rs3750308 - CHD7 Q9P2D1 VAR_048731 p.Met340Val LB/B rs41305525 - CHD7 Q9P2D1 VAR_054623 p.His55Arg LP/P rs121434345 Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_054624 p.Ser834Phe LP/P rs121434344 Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_054625 p.Ala2789Thr LB/B rs200140270 - CHD7 Q9P2D1 VAR_054626 p.Pro2880Leu LP/P rs113938624 Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_054627 p.Lys2948Glu LP/P rs1467824778 Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_068104 p.Met41Ile US rs756851968 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068105 p.Pro86Arg US rs1355349547 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068106 p.Ser103Thr LB/B rs41272435 - CHD7 Q9P2D1 VAR_068107 p.Gln201Arg LB/B rs764496155 - CHD7 Q9P2D1 VAR_068108 p.Val238Met US rs200898742 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068109 p.Pro369Ala LB/B rs766747354 - CHD7 Q9P2D1 VAR_068110 p.Ser466Leu LB/B rs71640285 - CHD7 Q9P2D1 VAR_068111 p.Gly522Val LB/B rs142962579 - CHD7 Q9P2D1 VAR_068112 p.Pro558Ala US rs746837682 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068113 p.Gly636Val LB/B rs529321177 - CHD7 Q9P2D1 VAR_068114 p.Ser699Thr US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068115 p.Asp728Asn US rs756365280 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068116 p.Gly744Ser LB/B rs141947938 - CHD7 Q9P2D1 VAR_068117 p.Glu871Asp LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068118 p.Thr894Ala US rs377662366 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068119 p.Lys907Thr US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068120 p.Thr917Met US rs1165711448 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068121 p.Arg938Lys US rs763978472 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068122 p.Arg944His US rs117506164 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068123 p.Arg947Gln US rs768481542 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068124 p.Leu1020Ser LP/P rs1057521077 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068125 p.Glu1203Gln US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068126 p.Val1208Asp US rs886040988 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068127 p.Leu1322Pro US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068128 p.Arg1345Cys US rs1563644113 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068128 p.Arg1345Cys US rs1563644113 Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_068129 p.Gln1395His LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068130 p.Thr1416Arg US rs770166812 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068131 p.Lys1457Gln US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068132 p.Phe1576Cys US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068133 p.Gly1617Ser US rs886040993 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068134 p.Gly1684Ser LP/P rs1554602465 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068134 p.Gly1684Ser LP/P rs1554602465 Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_068135 p.Leu1739Arg LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068136 p.Asp1791Glu US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068137 p.Gly1802Asp LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068138 p.Asp1866Gly US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068139 p.Ala1950Thr US rs201423234 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068140 p.Arg2065His US rs1197494895 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068141 p.Arg2065Ser LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068142 p.Ser2084Gly US rs201083157 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068143 p.Gly2103Asp US rs794727555 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068144 p.Gly2108Arg LP/P rs121434343 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068144 p.Gly2108Arg LP/P rs121434343 Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_068145 p.Ile2116Asn LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068146 p.Ala2160Thr LB/B rs61753399 - CHD7 Q9P2D1 VAR_068147 p.Ala2225Thr LB/B rs374408098 - CHD7 Q9P2D1 VAR_068148 p.Arg2319Cys US rs121434341 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068149 p.Gly2330Ala LB/B rs77704609 - CHD7 Q9P2D1 VAR_068150 p.Arg2418Gly LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068151 p.Arg2495Ser US rs547209998 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068152 p.Met2527Leu LB/B rs192129249 - CHD7 Q9P2D1 VAR_068153 p.Arg2653Gln LB/B rs747082615 - CHD7 Q9P2D1 VAR_068154 p.Pro2683Ser US rs201319489 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068155 p.Arg2702Cys US rs1373315351 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068156 p.Ala2733Thr US rs370231679 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068157 p.Leu2806Val LB/B rs45521933 - CHD7 Q9P2D1 VAR_068158 p.Ser2857Ala LB/B - - CHD7 Q9P2D1 VAR_068159 p.Val2931Met US rs370271088 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068160 p.Leu2984Phe LB/B rs184814820 - CHD7 Q9P2D1 VAR_068374 p.Met37Leu LB/B rs1416709395 - CHD7 Q9P2D1 VAR_068375 p.Tyr72Cys US rs767819417 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068376 p.Thr93Ala LB/B rs398124317 - CHD7 Q9P2D1 VAR_068377 p.Ala99Pro US rs779024959 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068378 p.Pro167Leu LB/B rs61742851 - CHD7 Q9P2D1 VAR_068379 p.Val238Leu LB/B rs200898742 - CHD7 Q9P2D1 VAR_068380 p.Gln254Glu US rs1554581354 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068381 p.Arg286Gly LB/B rs61995713 - CHD7 Q9P2D1 VAR_068382 p.Pro439Ser US rs772369092 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068383 p.His524Pro LB/B rs78962949 - CHD7 Q9P2D1 VAR_068384 p.Gln596Lys LB/B - - CHD7 Q9P2D1 VAR_068385 p.Ser699Gly US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068386 p.Lys812Asn LB/B rs61978638 - CHD7 Q9P2D1 VAR_068387 p.Trp840Cys LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068388 p.Thr942Ala US rs370194460 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068389 p.Gly975Arg US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068390 p.Trp1031Arg LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068391 p.Ile1081Ser US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068392 p.Thr1082Asn LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068393 p.Cys1101Arg LP/P rs1586393556 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068394 p.Cys1251Arg US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068395 p.Leu1292Pro LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068396 p.Arg1317Cys US rs373301291 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068397 p.Cys1318Arg LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068398 p.Arg1345His LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068399 p.Pro1594Ser LB/B - - CHD7 Q9P2D1 VAR_068400 p.Gly1617Asp US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068401 p.Gly1619Val US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068402 p.Ala1672Val LB/B rs61737194 - CHD7 Q9P2D1 VAR_068403 p.Gly1797Val LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068404 p.Asp1812Gly LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068405 p.Asp1812His LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068406 p.Ala1972Gly LB/B rs1013310877 - CHD7 Q9P2D1 VAR_068407 p.Arg2062Trp LB/B rs886063038 - CHD7 Q9P2D1 VAR_068408 p.Leu2074Pro US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068408 p.Leu2074Pro US - Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_068409 p.Trp2091Arg LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068410 p.Asp2097Gly US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068411 p.Val2102Ile US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068412 p.Thr2112Met US rs758409717 - CHD7 Q9P2D1 VAR_068413 p.Asn2118Asp LB/B - - CHD7 Q9P2D1 VAR_068414 p.Ala2259Thr US rs200806228 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068414 p.Ala2259Thr US rs200806228 Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_068415 p.Gly2286Ala LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068416 p.Lys2312Thr US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068417 p.Leu2366Arg US rs541818422 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068418 p.Ala2415Ser LB/B rs41315633 - CHD7 Q9P2D1 VAR_068419 p.Lys2464Glu US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_068420 p.Gly2488Asp LB/B rs398124324 - CHD7 Q9P2D1 VAR_068421 p.Arg2491Cys LB/B rs755492299 - CHD7 Q9P2D1 VAR_068422 p.Ile2725Val LB/B rs113877656 - CHD7 Q9P2D1 VAR_068423 p.Ala2780Val LB/B rs775132352 - CHD7 Q9P2D1 VAR_069032 p.Leu511Val LB/B - - CHD7 Q9P2D1 VAR_069033 p.Ser527Ala LB/B - - CHD7 Q9P2D1 VAR_069034 p.Leu1745Pro US - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_069035 p.Arg2077Lys US - - CHD7 Q9P2D1 VAR_072954 p.Gly117Asp LB/B rs372110761 - CHD7 Q9P2D1 VAR_072956 p.Arg758His LP/P rs202208393 Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_072957 p.Arg886Trp LP/P rs772260091 Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_072958 p.Arg944Ser LP/P rs587783435 Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_072959 p.Asn1030Ser LP/P rs886041167 Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_072960 p.Lys1291Glu LP/P - Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_072961 p.Leu1302Pro LP/P rs1563643394 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_072962 p.Leu1375Phe LP/P - Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_072963 p.Arg1592Trp US rs773187713 CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_072964 p.Val1742Asp LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_072965 p.Met1838Val LP/P rs759918327 Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_072966 p.Arg1912Gly LP/P - Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_072967 p.Arg2065Cys LP/P - Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_072968 p.Arg2398Gly LP/P - Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_072969 p.Gln2833Pro LP/P - Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_078703 p.Gly2108Trp LP/P - CHARGE syndrome (CHARGES) [MIM:214800] CHD8 Q9HCK8 VAR_078704 p.Val744Ile US rs996150988 Intellectual developmental disorder with autism and macrocephaly (IDDAM) [MIM:615032] CHD9 Q3L8U1 VAR_047355 p.Asp2312Glu LB/B rs6499548 - CHDH Q8NE62 VAR_020421 p.Glu40Ala LB/B rs9001 - CHDH Q8NE62 VAR_049357 p.Asn441Ser LB/B rs34974961 - CHDH Q8NE62 VAR_055097 p.Leu78Arg LB/B rs12676 - CHEK1 O14757 VAR_021123 p.Arg156Gln LB/B rs3731410 - CHEK1 O14757 VAR_024571 p.Ile471Val LB/B rs506504 - CHEK1 O14757 VAR_040407 p.Glu223Val LB/B rs35817404 - CHEK1 O14757 VAR_040408 p.Val312Met LB/B rs34097480 - CHEK2 O96017 VAR_008554 p.Arg145Trp LP/P rs137853007 Tumor predisposition syndrome 4 (TPDS4) [MIM:609265] CHEK2 O96017 VAR_008555 p.Ile157Thr LB/B rs17879961 - CHEK2 O96017 VAR_019101 p.Ala17Ser LB/B rs137853008 - CHEK2 O96017 VAR_019102 p.Pro85Leu LB/B rs17883862 - CHEK2 O96017 VAR_019103 p.Arg180Cys LP/P rs77130927 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019104 p.Arg181Cys LP/P rs137853010 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019105 p.Arg181His LP/P rs121908701 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019106 p.Glu239Lys LP/P rs121908702 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019107 p.Glu64Lys LP/P rs141568342 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019108 p.Arg145Pro LP/P rs587781667 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019109 p.Gly167Arg LP/P rs72552322 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019110 p.Arg180His LP/P rs137853009 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019111 p.Ile251Phe US rs587780189 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019112 p.Arg318His US rs143611747 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019113 p.Thr323Pro LP/P rs750984976 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019114 p.Tyr327Cys US rs587780194 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019115 p.Thr476Lys LP/P - Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_021117 p.Leu436Met LB/B rs17882922 - CHEK2 O96017 VAR_021118 p.Asn446Lys LB/B rs17880867 - CHEK2 O96017 VAR_021119 p.Phe447Ile LB/B rs17881473 - CHEK2 O96017 VAR_021120 p.Ile448Ser LB/B rs17886163 - CHEK2 O96017 VAR_021121 p.Glu501Lys LB/B rs17883172 - CHEK2 O96017 VAR_021122 p.Leu512Val LB/B rs17882942 - CHEK2 O96017 VAR_022461 p.Arg117Gly LP/P rs28909982 Breast cancer (BC) [MIM:114480] CHEK2 O96017 VAR_022462 p.Arg137Gln LB/B rs368570187 - CHEK2 O96017 VAR_022463 p.Ser428Phe LB/B rs137853011 - CHEK2 O96017 VAR_024572 p.Arg406His LB/B rs200649225 - CHEK2 O96017 VAR_026630 p.Thr59Lys US rs149991239 Multiple cancers CHEK2 O96017 VAR_029154 p.Asp347Asn LB/B rs28909980 - CHEK2 O96017 VAR_029155 p.Ser500Cys LB/B rs28909981 - CHEK2 O96017 VAR_066012 p.His371Tyr LB/B rs531398630 - CHEK2 O96017 VAR_073020 p.Tyr390Cys LP/P rs200928781 Breast cancer (BC) [MIM:114480] CHERP Q8IWX8 VAR_034833 p.Asn199His LB/B rs1043448 - CHFR Q96EP1 VAR_017582 p.Pro166Leu US rs1176037831 A patient with non small cell lung carcinomas CHFR Q96EP1 VAR_017583 p.Arg202Pro US - A patient with non small cell lung carcinomas CHFR Q96EP1 VAR_017584 p.Gly270Arg LB/B rs115096950 - CHFR Q96EP1 VAR_017585 p.Ala497Val LB/B rs2306541 - CHFR Q96EP1 VAR_017586 p.Phe536Ser US - A patient with non small cell lung carcinomas CHFR Q96EP1 VAR_017587 p.Val580Met LB/B rs2306536 - CHGA P10645 VAR_025636 p.Glu176Lys LB/B rs9658654 - CHGA P10645 VAR_025637 p.Glu264Asp LB/B rs9658655 - CHGA P10645 VAR_025638 p.Arg271Trp LB/B rs9658662 - CHGA P10645 VAR_025639 p.Ala274Gly LB/B rs9658663 - CHGA P10645 VAR_025640 p.Gly315Ser LB/B rs9658664 - CHGA P10645 VAR_025641 p.Leu332Pro LB/B rs9658665 - CHGA P10645 VAR_025642 p.Asp369Asn LB/B rs2228575 - CHGA P10645 VAR_025643 p.Gly382Ser LB/B rs9658667 - CHGA P10645 VAR_025644 p.Pro388Leu LB/B rs9658668 - CHGA P10645 VAR_025645 p.Arg399Trp LB/B rs729940 - CHGA P10645 VAR_047417 p.Arg61Gln LB/B rs3742712 - CHGA P10645 VAR_072687 p.Arg392Gln LB/B rs9658669 - CHGB P05060 VAR_020287 p.Arg178Gln LB/B rs910122 - CHGB P05060 VAR_022012 p.Arg417His LB/B rs742711 - CHGB P05060 VAR_024414 p.Lys117Asn LB/B rs236150 - CHGB P05060 VAR_024415 p.Thr243Ala LB/B rs236151 - CHGB P05060 VAR_024416 p.Ala353Gly LB/B rs236152 - CHGB P05060 VAR_028235 p.Asp145Asn LB/B rs6133278 - CHGB P05060 VAR_028236 p.Asn200His LB/B rs881118 - CHGB P05060 VAR_028237 p.Arg232Gln LB/B rs6139873 - CHGB P05060 VAR_028238 p.Pro413Leu LB/B rs742710 - CHGB P05060 VAR_043578 p.Ser93Thr LB/B rs6085324 - CHI3L1 P36222 VAR_019838 p.Arg145Gly LB/B rs880633 - CHI3L1 P36222 VAR_019839 p.Ile311Thr LB/B rs1049407 - CHI3L2 Q15782 VAR_033731 p.Val184Ile LB/B rs34049547 - CHI3L2 Q15782 VAR_049198 p.Ala182Val LB/B rs11556868 - CHI3L2 Q15782 VAR_061189 p.Arg318Trp LB/B rs13721 - CHIA Q9BZP6 VAR_033730 p.Val324Gly LB/B rs2256721 - CHIA Q9BZP6 VAR_049192 p.Gly102Arg LB/B rs3818822 - CHIA Q9BZP6 VAR_049193 p.Ile339Val LB/B rs2275253 - CHIA Q9BZP6 VAR_049194 p.Phe354Ser LB/B rs2275254 - CHIA Q9BZP6 VAR_049195 p.Phe377Leu LB/B rs36011905 - CHIA Q9BZP6 VAR_049196 p.Val432Gly LB/B rs2256721 - CHIA Q9BZP6 VAR_063030 p.Asn45Asp LB/B rs41282492 - CHIA Q9BZP6 VAR_063031 p.Asp47Asn LB/B rs41282494 - CHIA Q9BZP6 VAR_063032 p.Arg61Met LB/B rs41282496 - CHIA Q9BZP6 VAR_063033 p.Lys125Arg LB/B rs61756687 - CHID1 Q9BWS9 VAR_031173 p.Arg331Gln LB/B rs1127800 - CHID1 Q9BWS9 VAR_031174 p.Ala338Val LB/B rs6682 - CHIT1 Q13231 VAR_022138 p.Gly102Ser LB/B rs2297950 - CHIT1 Q13231 VAR_024458 p.Ala442Gly LB/B rs1065761 - CHIT1 Q13231 VAR_049190 p.Arg40His LB/B rs35920428 - CHIT1 Q13231 VAR_049191 p.Gln171His LB/B rs12562058 - CHIT1 Q13231 VAR_065914 p.Glu74Lys LB/B rs137852607 - CHKA P35790 VAR_054863 p.Ser220Gly LB/B rs17853641 - CHKA P35790 VAR_054864 p.Leu422Gln LB/B rs17853642 - CHKA P35790 VAR_087712 p.Arg141Trp LP/P rs765529707 Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures (NEDMIMS) [MIM:620023] CHKA P35790 VAR_087713 p.Pro194Ser LP/P rs763056271 Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures (NEDMIMS) [MIM:620023] CHKA P35790 VAR_087714 p.Phe341Leu LP/P - Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures (NEDMIMS) [MIM:620023] CHKB Q9Y259 VAR_081796 p.Glu283Lys LP/P - Muscular dystrophy, congenital, megaconial type (MDCMC) [MIM:602541] CHKB Q9Y259 VAR_081798 p.Thr301Ile LB/B rs147485527 - CHKB Q9Y259 VAR_081800 p.Gln328Arg LB/B rs141381896 - CHKB Q9Y259 VAR_081801 p.Arg377Leu LP/P rs772705206 Muscular dystrophy, congenital, megaconial type (MDCMC) [MIM:602541] CHL1 O00533 VAR_027167 p.Leu17Phe LB/B rs2272522 - CHL1 O00533 VAR_027168 p.Thr287Ala LB/B rs13060847 - CHL1 O00533 VAR_027169 p.Ile1034Val LB/B rs6442827 - CHL1 O00533 VAR_035505 p.Leu411Ile US - A colorectal cancer sample CHM P24386 VAR_008273 p.Gln471Leu LP/P - Choroideremia (CHM) [MIM:303100] CHM P24386 VAR_066847 p.His507Arg LP/P rs397514603 Choroideremia (CHM) [MIM:303100] CHM P24386 VAR_066848 p.Leu550Pro LP/P - Choroideremia (CHM) [MIM:303100] CHMP2B Q9UQN3 VAR_023383 p.Asp148Tyr LP/P rs63750653 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (FTDALS7) [MIM:600795] CHMP2B Q9UQN3 VAR_038373 p.Ile29Val LP/P rs63750818 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (FTDALS7) [MIM:600795] CHMP2B Q9UQN3 VAR_038374 p.Gln206His LP/P rs63751126 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (FTDALS7) [MIM:600795] CHMP2B Q9UQN3 VAR_068689 p.Thr104Asn LP/P rs281864934 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (FTDALS7) [MIM:600795] CHMP4A Q9BY43 VAR_023384 p.Gly153Arg LB/B rs2295322 - CHMP4B Q9H444 VAR_037579 p.Asp129Val LP/P rs118203965 Cataract 31, multiple types (CTRCT31) [MIM:605387] CHMP4B Q9H444 VAR_037580 p.Glu161Lys LP/P rs118203966 Cataract 31, multiple types (CTRCT31) [MIM:605387] CHMP4C Q96CF2 VAR_052028 p.Ala232Thr LB/B rs35094336 - CHMP6 Q96FZ7 VAR_061807 p.Gly55Ser LB/B rs61037507 - CHN1 P15882 VAR_047940 p.Leu20Phe LP/P rs121912792 Duane retraction syndrome 2 (DURS2) [MIM:604356] CHN1 P15882 VAR_047941 p.Ile126Met LP/P rs121912793 Duane retraction syndrome 2 (DURS2) [MIM:604356] CHN1 P15882 VAR_047942 p.Tyr143His LP/P rs121912794 Duane retraction syndrome 2 (DURS2) [MIM:604356] CHN1 P15882 VAR_047943 p.Ala223Val LP/P rs121912795 Duane retraction syndrome 2 (DURS2) [MIM:604356] CHN1 P15882 VAR_047944 p.Gly228Ser LP/P rs121912796 Duane retraction syndrome 2 (DURS2) [MIM:604356] CHN1 P15882 VAR_047945 p.Pro252Gln LP/P rs121912797 Duane retraction syndrome 2 (DURS2) [MIM:604356] CHN1 P15882 VAR_047946 p.Glu313Lys LP/P rs121912798 Duane retraction syndrome 2 (DURS2) [MIM:604356] CHN2 P52757 VAR_022118 p.His204Arg LB/B rs3750103 - CHN2 P52757 VAR_049136 p.Pro438Ser LB/B rs34971642 - CHORDC1 Q9UHD1 VAR_038676 p.Ala329Asp LB/B rs1045861 - CHP2 O43745 VAR_048664 p.Arg127Pro LB/B rs35641939 - CHPF Q8IZ52 VAR_047394 p.Gln371Arg LB/B rs6436155 - CHPT1 Q8WUD6 VAR_032612 p.Phe162Ser LB/B rs3205421 - CHPT1 Q8WUD6 VAR_032613 p.Tyr323Ser US - - CHRAC1 Q9NRG0 VAR_013755 p.Cys55Tyr LB/B rs2231522 - CHRAC1 Q9NRG0 VAR_013756 p.His126Arg LB/B rs2231524 - CHRD Q9H2X0 VAR_021517 p.Met630Leu LB/B rs16858780 - CHRD Q9H2X0 VAR_048727 p.Pro94Ser LB/B rs34095724 - CHRDL1 Q9BU40 VAR_068175 p.Cys260Phe LP/P rs387906713 Megalocornea 1, X-linked (MGC1) [MIM:309300] CHRDL2 Q6WN34 VAR_055651 p.Pro335Leu LB/B rs35903991 - CHRM3 P20309 VAR_033461 p.Val65Ile LB/B rs2067481 - CHRM3 P20309 VAR_049368 p.Leu431Pro LB/B rs16839102 - CHRNA1 P02708 VAR_000282 p.Gly173Ser LP/P rs137852801 Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462] CHRNA1 P02708 VAR_000283 p.Val176Met LP/P rs137852799 Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462] CHRNA1 P02708 VAR_000284 p.Asn237Lys LP/P rs137852798 Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462] CHRNA1 P02708 VAR_000285 p.Thr274Ile LP/P rs137852800 Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462] CHRNA1 P02708 VAR_000286 p.Ser289Ile LP/P rs137852802 Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462] CHRNA1 P02708 VAR_021206 p.Phe253Val LP/P rs137852805 Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) [MIM:608930] CHRNA1 P02708 VAR_021207 p.Val269Phe LP/P rs137852803 Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462] CHRNA1 P02708 VAR_021208 p.Phe276Leu LP/P rs137852806 Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) [MIM:608930] CHRNA1 P02708 VAR_021209 p.Val305Ile LP/P rs137852804 Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) [MIM:608930] CHRNA1 P02708 VAR_038599 p.Val152Leu LP/P rs137852807 Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) [MIM:608930] CHRNA1 P02708 VAR_038600 p.Asp358Val LB/B rs6739001 - CHRNA1 P02708 VAR_038601 p.Cys438Trp LP/P rs137852808 Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462] CHRNA1 P02708 VAR_043904 p.Arg229Leu LP/P rs137852809 Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290] CHRNA10 Q9GZZ6 VAR_048172 p.Glu355Ala LB/B rs2231547 - CHRNA2 Q15822 VAR_027639 p.Thr22Ile LB/B rs2472553 - CHRNA2 Q15822 VAR_027640 p.Thr125Ala LB/B rs891398 - CHRNA2 Q15822 VAR_027641 p.Ile279Asn LP/P rs104894063 Epilepsy, nocturnal frontal lobe, 4 (ENFL4) [MIM:610353] CHRNA2 Q15822 VAR_076498 p.Arg376Trp US rs1018084204 Seizures, benign familial infantile, 6 (BFIS6) [MIM:610353] CHRNA3 P32297 VAR_059110 p.Arg37His LB/B rs8192475 - CHRNA4 P43681 VAR_000295 p.Ser280Phe LP/P rs121909580 Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513] CHRNA4 P43681 VAR_017531 p.Ser280Leu LP/P - Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513] CHRNA4 P43681 VAR_023402 p.Glu387Gly LB/B rs45604738 - CHRNA4 P43681 VAR_023403 p.Ser517Leu LB/B rs45622132 - CHRNA5 P30532 VAR_046211 p.Val134Ile LB/B rs2229961 - CHRNA5 P30532 VAR_046212 p.Asp398Asn LB/B rs16969968 - CHRNA6 Q15825 VAR_048171 p.Asn447Ser LB/B rs16891583 - CHRNA9 Q9UGM1 VAR_025425 p.Asn442Ser LB/B rs10009228 - CHRNA9 Q9UGM1 VAR_031151 p.Arg96Gln LB/B rs10024518 - CHRNA9 Q9UGM1 VAR_060996 p.Ala315Val LB/B rs55633891 - CHRNB1 P11230 VAR_000287 p.Leu285Met LP/P rs137852811 Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313] CHRNB1 P11230 VAR_000288 p.Val289Met LP/P rs137852810 Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313] CHRNB1 P11230 VAR_048169 p.Glu32Gly LB/B rs17856697 - CHRNB1 P11230 VAR_070842 p.Asp124Tyr LB/B rs17856698 - CHRNB1 P11230 VAR_077363 p.Val289Ala LP/P - Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313] CHRNB2 P17787 VAR_012714 p.Val287Leu LP/P rs74315291 Epilepsy, nocturnal frontal lobe, 3 (ENFL3) [MIM:605375] CHRNB2 P17787 VAR_012715 p.Val287Met LP/P rs74315291 Epilepsy, nocturnal frontal lobe, 3 (ENFL3) [MIM:605375] CHRNB2 P17787 VAR_021564 p.Gln397His LB/B rs55685423 - CHRNB3 Q05901 VAR_048173 p.Lys451Glu LB/B rs35327613 - CHRNB4 P30926 VAR_013241 p.Arg136Trp LB/B rs141876090 - CHRNB4 P30926 VAR_013242 p.Ser140Gly LB/B rs56218866 - CHRNB4 P30926 VAR_013243 p.Met467Val LB/B rs61737502 - CHRNB4 P30926 VAR_048174 p.Thr91Ile LB/B rs12914008 - CHRND Q07001 VAR_019566 p.Ser289Phe LP/P rs121909502 Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A) [MIM:616321] CHRND Q07001 VAR_021210 p.Glu80Lys LP/P rs121909504 Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322] CHRND Q07001 VAR_021211 p.Pro271Gln LP/P rs121909503 Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322] CHRND Q07001 VAR_021212 p.Gln288Glu LB/B rs41265127 - CHRND Q07001 VAR_036031 p.Asp398Glu US - A breast cancer sample CHRND Q07001 VAR_043905 p.Phe95Leu LP/P rs121909506 Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290] CHRND Q07001 VAR_073691 p.Leu42Pro LP/P - Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322] CHRND Q07001 VAR_073692 p.Ile79Lys LP/P rs121909509 Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322] CHRND Q07001 VAR_073693 p.Val114Leu LB/B rs760395222 - CHRND Q07001 VAR_073694 p.Glu402Lys LP/P rs145955590 Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C) [MIM:616323] CHRNE Q04844 VAR_000289 p.Pro141Leu LP/P rs121909512 Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324] CHRNE Q04844 VAR_000290 p.Arg167Leu LP/P rs121909514 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CMS4C) [MIM:608931] CHRNE Q04844 VAR_000291 p.Pro265Leu LP/P rs759226183 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CMS4C) [MIM:608931] CHRNE Q04844 VAR_000292 p.Thr284Pro LP/P rs121909510 Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809] CHRNE Q04844 VAR_000293 p.Leu289Phe LP/P rs121909511 Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809] CHRNE Q04844 VAR_000294 p.Arg331Trp LP/P rs121909515 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CMS4C) [MIM:608931] CHRNE Q04844 VAR_019567 p.Leu98Pro LP/P rs28929768 Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809] CHRNE Q04844 VAR_019568 p.Leu241Phe LP/P rs28999110 Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809] CHRNE Q04844 VAR_021213 p.Gly13Arg LP/P rs372635387 Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324] CHRNE Q04844 VAR_021214 p.Ser163Leu LP/P rs121909516 Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324] CHRNE Q04844 VAR_021215 p.Ala431Pro LP/P rs121909517 Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324] CHRNE Q04844 VAR_048170 p.Gly18Val LB/B rs4790235 - CHRNE Q04844 VAR_071629 p.Trp75Arg LP/P rs193919341 Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324] CHRNE Q04844 VAR_077364 p.Val285Ala LP/P rs1597618787 Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809] CHRNG P07510 VAR_030753 p.Val107Gly LP/P rs267606726 Multiple pterygium syndrome, Escobar variant (EVMPS) [MIM:265000] CHRNG P07510 VAR_030753 p.Val107Gly LP/P rs267606726 Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290] CHRNG P07510 VAR_030754 p.Ala149Thr LB/B rs2289080 - CHRNG P07510 VAR_030755 p.Arg239Cys LP/P rs121912670 Multiple pterygium syndrome, Escobar variant (EVMPS) [MIM:265000] CHRNG P07510 VAR_030755 p.Arg239Cys LP/P rs121912670 Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290] CHST10 O43529 VAR_021470 p.Asp258Asn LB/B rs3748932 - CHST10 O43529 VAR_033737 p.Val20Leu LB/B rs35177621 - CHST12 Q9NRB3 VAR_021471 p.Pro52His LB/B rs3735099 - CHST12 Q9NRB3 VAR_021472 p.Thr61Ser LB/B rs3735100 - CHST12 Q9NRB3 VAR_021473 p.Arg109Ser LB/B rs17132395 - CHST12 Q9NRB3 VAR_021474 p.Ala145Pro LB/B rs17132399 - CHST12 Q9NRB3 VAR_033738 p.Pro94Leu LB/B rs12536223 - CHST13 Q8NET6 VAR_021477 p.Ala271Val LB/B rs1056523 - CHST13 Q8NET6 VAR_021478 p.Arg317Gln LB/B rs1056522 - CHST13 Q8NET6 VAR_053698 p.Pro146Ser LB/B rs34311016 - CHST14 Q8NCH0 VAR_063754 p.Arg135Gly LP/P rs267606727 Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) [MIM:601776] CHST14 Q8NCH0 VAR_063755 p.Leu137Gln LP/P rs267606728 Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) [MIM:601776] CHST14 Q8NCH0 VAR_063756 p.Arg213Pro LP/P rs121908257 Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) [MIM:601776] CHST14 Q8NCH0 VAR_063757 p.Tyr293Cys LP/P rs121908258 Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) [MIM:601776] CHST14 Q8NCH0 VAR_064555 p.Pro281Leu LP/P rs267606729 Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) [MIM:601776] CHST14 Q8NCH0 VAR_064556 p.Cys289Ser LP/P rs267606731 Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) [MIM:601776] CHST3 Q7LGC8 VAR_021413 p.Arg304Gln LP/P rs28937593 Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095] CHST3 Q7LGC8 VAR_021414 p.Ile348Met LB/B rs3740128 - CHST3 Q7LGC8 VAR_021415 p.Arg357Gln LB/B rs3740129 - CHST3 Q7LGC8 VAR_047856 p.Arg222Trp LP/P rs121908617 Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095] CHST3 Q7LGC8 VAR_047857 p.Leu259Pro LP/P rs121908616 Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095] CHST3 Q7LGC8 VAR_047858 p.Leu307Pro LP/P rs121908618 Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095] CHST3 Q7LGC8 VAR_047859 p.Glu372Lys LP/P rs267606734 Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095] CHST4 Q8NCG5 VAR_052528 p.His361Gln LB/B rs3813744 - CHST5 Q9GZS9 VAR_021416 p.Thr318Met LB/B rs3826107 - CHST5 Q9GZS9 VAR_057993 p.Ala311Thr LB/B rs7206332 - CHST6 Q9GZX3 VAR_021417 p.Leu15Pro LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021418 p.Leu22Arg LP/P rs68043642 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021419 p.Pro31Ser LP/P rs72547549 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021420 p.His42Tyr LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021421 p.Arg50Cys LP/P rs28937877 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021422 p.Ser51Leu LP/P rs370335460 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021423 p.Gly52Asp LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021424 p.Ser53Leu LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021425 p.Leu59Pro LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021426 p.Asn61Thr LP/P rs72547548 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021427 p.Val66Leu LP/P rs72547547 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021428 p.Tyr68His LP/P rs775742450 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021429 p.Met70Leu LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021430 p.Pro72Ser LP/P rs377617168 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021431 p.Val76Met LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021432 p.Arg93His LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021433 p.Arg97Pro LP/P rs72547546 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021434 p.Ser98Trp LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021435 p.Cys102Gly LP/P rs121917822 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021436 p.Cys102Tyr LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021437 p.Met104Val LP/P rs1158093021 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021438 p.Phe107Ser LP/P rs72547545 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021439 p.Tyr110Cys LP/P rs72547544 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021440 p.Phe121Leu LP/P rs1265310255 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021441 p.Gln122Pro LP/P rs758105699 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021442 p.Arg127Cys LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021443 p.Ala128Val LP/P rs72547543 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021444 p.Ser131Pro LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021445 p.Leu152Pro LP/P rs142954809 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021446 p.Arg162Gly LP/P rs117435647 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021447 p.Arg166Pro LP/P rs72547542 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021448 p.Lys174Arg LP/P rs28937877 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021449 p.Arg177His LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021450 p.Val198Glu LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021451 p.Leu200Arg LP/P rs28937879 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021452 p.Arg202Ser LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021453 p.Asp203Glu LP/P rs28937878 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021454 p.Pro204Gln LP/P rs759870075 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021455 p.Arg205Leu LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021456 p.Arg205Gln LP/P rs377706989 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021457 p.Ala206Thr LP/P rs374493344 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021458 p.Ala206Val LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021459 p.Ser210Phe LP/P rs745571211 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021460 p.Arg211Gln LP/P rs771397083 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021461 p.Arg211Trp LP/P rs202175444 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021462 p.Ala217Thr LP/P rs752785520 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021463 p.Asp221Glu LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021464 p.Asp221Tyr LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021465 p.His249Pro LP/P rs72547540 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021466 p.Tyr268Cys LP/P rs72547539 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021467 p.Glu274Lys LP/P rs72547538 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021468 p.Leu276Pro LP/P rs121917824 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_021469 p.Tyr358Asp LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_033735 p.Asn369Asp LB/B rs35036798 - CHST6 Q9GZX3 VAR_075522 p.Ser118Phe US - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_075523 p.Arg177Gly LP/P - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_075524 p.Pro186Arg LP/P rs376162109 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_075525 p.Arg205Trp LP/P rs750219546 Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_075526 p.His308Tyr US - Macular dystrophy, corneal (MCD) [MIM:217800] CHST6 Q9GZX3 VAR_075527 p.Tyr358His LP/P rs1384294258 Macular dystrophy, corneal (MCD) [MIM:217800] CHST8 Q9H2A9 VAR_036538 p.Arg247His US rs1261984908 A colorectal cancer sample CHST8 Q9H2A9 VAR_067723 p.Arg77Trp LP/P rs149660944 Peeling skin syndrome 3 (PSS3) [MIM:616265] CHST9 Q7L1S5 VAR_055150 p.Ser122Asn LB/B rs17694469 - CHST9 Q7L1S5 VAR_079095 p.Asn378Ser LB/B rs758130927 - CHSY1 Q86X52 VAR_021173 p.Pro359Ser LB/B rs3743193 - CHSY1 Q86X52 VAR_028009 p.Gln652His LB/B rs4426333 - CHSY1 Q86X52 VAR_065822 p.Pro539Arg LP/P rs387906985 Temtamy preaxial brachydactyly syndrome (TPBS) [MIM:605282] CHSY3 Q70JA7 VAR_021174 p.Asp764Gly LB/B rs2015018 - CHSY3 Q70JA7 VAR_027540 p.Gly615Glu LB/B rs10068403 - CHTF18 Q8WVB6 VAR_043990 p.Ser63Phe LB/B rs2277902 - CHTF18 Q8WVB6 VAR_043991 p.Gln82Pro LB/B rs2277901 - CHTF18 Q8WVB6 VAR_043992 p.Lys244Arg LB/B rs3765263 - CHTF18 Q8WVB6 VAR_043993 p.Ala466Ser LB/B rs34595992 - CHTF18 Q8WVB6 VAR_043994 p.Pro928Leu LB/B rs2294451 - CHUK O15111 VAR_021359 p.Val268Ile LB/B rs2230804 - CHUK O15111 VAR_040565 p.Ser126Cys LB/B rs34427437 - CHUK O15111 VAR_040566 p.Val155Ala LB/B rs2230803 - CIAO3 Q9H6Q4 VAR_053911 p.Val38Met LB/B rs8045850 - CIAO3 Q9H6Q4 VAR_053912 p.His444Arg LB/B rs7188554 - CIAPIN1 Q6FI81 VAR_033747 p.Ala34Glu LB/B rs11557672 - CIAPIN1 Q6FI81 VAR_033748 p.Gln52Glu LB/B rs11557674 - CIB1 Q99828 VAR_019565 p.Ser44Thr LB/B rs3210935 - CIB1 Q99828 VAR_048636 p.Ile106Thr LB/B rs11551250 - CIB2 O75838 VAR_069086 p.Glu64Asp LP/P rs145415848 Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] CIB2 O75838 VAR_069086 p.Glu64Asp LP/P rs145415848 Usher syndrome 1J (USH1J) [MIM:614869] CIB2 O75838 VAR_069087 p.Phe91Ser LP/P rs397515411 Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] CIB2 O75838 VAR_069088 p.Cys99Trp LP/P rs370965183 Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] CIB2 O75838 VAR_069089 p.Ile123Thr LP/P rs397515412 Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] CIB2 O75838 VAR_074552 p.Arg66Trp US rs780168150 Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] CIB2 O75838 VAR_077559 p.Arg186Trp LP/P rs370359511 Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] CIB2 O75838 VAR_080825 p.Val75Met US rs758743502 - CIB3 Q96Q77 VAR_060268 p.Gly139Glu LB/B rs6512087 - CIB4 A0PJX0 VAR_048637 p.His181Arg LB/B rs935172 - CIBAR1 A1XBS5 VAR_062190 p.Arg222Gln LB/B rs36117362 - CIBAR2 Q6ZTR7 VAR_043035 p.Glu22Lys LB/B rs9934891 - CIC Q96RK0 VAR_028302 p.Ser982Gly LB/B rs17339472 - CIC Q96RK0 VAR_035936 p.Glu104Lys US - A breast cancer sample CIC Q96RK0 VAR_035937 p.Ala652Thr US rs770323488 A breast cancer sample CIC Q96RK0 VAR_065090 p.Arg492Trp US rs373584239 Intellectual developmental disorder, autosomal dominant 45 (MRD45) [MIM:617600] CIDEA O60543 VAR_048738 p.Val115Phe LB/B rs11545881 - CIITA P33076 VAR_005128 p.Gly500Ala LB/B rs4774 - CIITA P33076 VAR_015551 p.Leu469Pro LP/P - Bare lymphocyte syndrome 2 (BLS2) [MIM:209920] CIITA P33076 VAR_015552 p.Ala658Gly LB/B rs2229319 - CIITA P33076 VAR_015553 p.Phe962Ser LP/P - Bare lymphocyte syndrome 2 (BLS2) [MIM:209920] CIITA P33076 VAR_029270 p.Leu45Val LB/B rs2229317 - CIITA P33076 VAR_047907 p.Arg174Gly LB/B rs8046121 - CIITA P33076 VAR_047908 p.Gln900Arg LB/B rs7197779 - CIITA P33076 VAR_057711 p.Val782Ala LB/B rs13336804 - CIITA P33076 VAR_060104 p.Ser781Leu LB/B rs13330686 - CILK1 Q9UPZ9 VAR_042001 p.Phe115Tyr US - A renal clear cell carcinoma sample CILK1 Q9UPZ9 VAR_042002 p.Val320Ile LB/B rs33936662 - CILK1 Q9UPZ9 VAR_042003 p.Thr471Lys LB/B rs56164633 - CILK1 Q9UPZ9 VAR_042004 p.Arg476Gln LB/B rs55895113 - CILK1 Q9UPZ9 VAR_042005 p.Ala615Thr US rs55932059 Juvenile myoclonic epilepsy 10 (EJM10) [MIM:617924] CILK1 Q9UPZ9 VAR_053931 p.Pro98Leu LB/B rs1493105 - CILK1 Q9UPZ9 VAR_057994 p.Arg272Gln LP/P rs118203918 Endocrine-cerebroosteodysplasia (ECO) [MIM:612651] CILK1 Q9UPZ9 VAR_080554 p.Ile102Leu US rs748539319 Juvenile myoclonic epilepsy 10 (EJM10) [MIM:617924] CILK1 Q9UPZ9 VAR_080555 p.Lys220Glu LP/P - Juvenile myoclonic epilepsy 10 (EJM10) [MIM:617924] CILK1 Q9UPZ9 VAR_080556 p.Lys305Thr LP/P rs765078446 Juvenile myoclonic epilepsy 10 (EJM10) [MIM:617924] CILP O75339 VAR_022768 p.Trp59Leu LB/B rs2585033 - CILP O75339 VAR_022769 p.Ser327Phe LB/B - - CILP O75339 VAR_022770 p.Ile395Thr LB/B rs2073711 - CILP O75339 VAR_022771 p.Lys575Glu LB/B rs2679118 - CILP O75339 VAR_022772 p.Ala895Val LB/B rs771628304 - CILP O75339 VAR_022773 p.Gln979Arg LB/B rs2679117 - CILP O75339 VAR_022774 p.Asp1101Asn LB/B rs769023414 - CILP O75339 VAR_022775 p.Gly1166Ser LB/B rs938952 - CILP O75339 VAR_022776 p.Val1168Ala LB/B rs747702148 - CILP O75339 VAR_069430 p.Arg495His LB/B rs149286218 - CILP O75339 VAR_069431 p.Ser1032Thr LB/B rs768702821 - CIMAP1C Q8IXM7 VAR_062204 p.Pro41Leu LB/B rs55905564 - CIMAP1D Q3SX64 VAR_053951 p.Val135Ala LB/B rs34551779 - CIMAP2 Q3ZCV2 VAR_034645 p.Gly126Cys LB/B rs9782980 - CIMAP2 Q3ZCV2 VAR_054410 p.His205Tyr LB/B rs600499 - CIMAP3 Q8TCI5 VAR_031767 p.Lys97Asn LB/B rs15396 - CIMAP3 Q8TCI5 VAR_031768 p.His105Asn LB/B rs2184884 - CIMAP3 Q8TCI5 VAR_066484 p.Arg80Lys LB/B rs150508940 - CIMIP1 Q9H1P6 VAR_033759 p.Arg26His LB/B rs16984945 - CIMIP1 Q9H1P6 VAR_033760 p.Ile99Val LB/B rs17440813 - CIMIP1 Q9H1P6 VAR_061632 p.Arg34Gln LB/B rs45576936 - CIMIP2C A6NJV1 VAR_042998 p.Gln66His LB/B rs13002673 - CIMIP2C A6NJV1 VAR_054056 p.Gln177Leu LB/B rs2272466 - CINP Q9BW66 VAR_039979 p.Arg164His LB/B rs7011 - CINP Q9BW66 VAR_039980 p.Asp177Asn US - A colorectal cancer sample CIP2A Q8TCG1 VAR_046939 p.Lys126Arg LB/B rs7648496 - CIP2A Q8TCG1 VAR_046940 p.Arg229Gln LB/B rs2278911 - CIP2A Q8TCG1 VAR_046941 p.Thr409Ile LB/B rs9856308 - CIP2A Q8TCG1 VAR_046942 p.Thr447Ala LB/B rs34944683 - CIP2A Q8TCG1 VAR_046943 p.Pro494Leu LB/B rs13083928 - CIP2A Q8TCG1 VAR_046944 p.Ser572Ala LB/B rs34172460 - CIP2A Q8TCG1 VAR_046945 p.Arg680Thr LB/B rs6777766 - CIP2A Q8TCG1 VAR_046946 p.Ile759Val LB/B rs13071874 - CIPC Q9C0C6 VAR_028881 p.Leu31Phe LB/B rs11552006 - CIPC Q9C0C6 VAR_049526 p.Thr203Ala LB/B rs759593 - CIROP A0A1B0GTW7 VAR_086199 p.Ser31Phe US rs553352307 Heterotaxy, visceral, 12, autosomal (HTX12) [MIM:619702] CIROP A0A1B0GTW7 VAR_086201 p.Cys324Ser US - Heterotaxy, visceral, 12, autosomal (HTX12) [MIM:619702] CIROP A0A1B0GTW7 VAR_086203 p.Ser384Leu US rs183023758 Heterotaxy, visceral, 12, autosomal (HTX12) [MIM:619702] CIROP A0A1B0GTW7 VAR_086204 p.Arg389Ile US - Heterotaxy, visceral, 12, autosomal (HTX12) [MIM:619702] CIROP A0A1B0GTW7 VAR_086206 p.Leu469Pro US - Heterotaxy, visceral, 12, autosomal (HTX12) [MIM:619702] CIT O14578 VAR_040417 p.Gly7Glu LB/B rs36054900 - CIT O14578 VAR_040418 p.Arg9Gln LB/B rs56193743 - CIT O14578 VAR_040419 p.Leu183Phe LB/B - - CIT O14578 VAR_077442 p.Gly106Val LP/P rs886037892 Microcephaly 17, primary, autosomal recessive (MCPH17) [MIM:617090] CIT O14578 VAR_077443 p.Lys126Gln LP/P rs886037893 Microcephaly 17, primary, autosomal recessive (MCPH17) [MIM:617090] CIT O14578 VAR_077444 p.Asp230Val LP/P rs886037894 Microcephaly 17, primary, autosomal recessive (MCPH17) [MIM:617090] CITED1 Q99966 VAR_053038 p.His96Gln LB/B rs3012627 - CIZ1 Q9ULV3 VAR_056820 p.Ala219Thr LB/B rs45588035 - CIZ1 Q9ULV3 VAR_056821 p.Ser578Phe LB/B rs12334 - CIZ1 Q9ULV3 VAR_056822 p.Val638Met LB/B rs11549266 - CIZ1 Q9ULV3 VAR_063105 p.Glu370Gly LB/B rs45554035 - CIZ1 Q9ULV3 VAR_063106 p.Arg847Gln LB/B rs11549260 - CIZ1 Q9ULV3 VAR_067971 p.Pro47Ser US - - CIZ1 Q9ULV3 VAR_067972 p.Pro50Leu LB/B rs747696276 - CIZ1 Q9ULV3 VAR_067973 p.Ser264Gly LB/B rs397514566 - CIZ1 Q9ULV3 VAR_067974 p.Gln394Glu LB/B rs200010931 - CIZ1 Q9ULV3 VAR_067975 p.Ser577Phe LB/B rs780188256 - CIZ1 Q9ULV3 VAR_067976 p.Arg672Met US - - CKAP2 Q8WWK9 VAR_054018 p.Met236Lys LB/B rs35975899 - CKAP2 Q8WWK9 VAR_069359 p.Ile323Val LB/B rs7335867 - CKAP2L Q8IYA6 VAR_039735 p.Leu19Phe LB/B rs36093393 - CKAP2L Q8IYA6 VAR_039736 p.Lys26Arg LB/B rs35593767 - CKAP2L Q8IYA6 VAR_039737 p.Asn62Ser LB/B rs17042344 - CKAP2L Q8IYA6 VAR_039738 p.Thr104Ile LB/B rs13007595 - CKAP2L Q8IYA6 VAR_039739 p.Arg263Ser LB/B rs17042341 - CKAP2L Q8IYA6 VAR_039740 p.Ile375Val LB/B rs6731822 - CKAP2L Q8IYA6 VAR_039741 p.Pro379Ala LB/B rs2676126 - CKAP2L Q8IYA6 VAR_039742 p.Ser519Gly LB/B rs36046436 - CKAP2L Q8IYA6 VAR_039743 p.Leu614Ser LB/B rs3811040 - CKAP2L Q8IYA6 VAR_039744 p.Glu706Asp LB/B rs3811039 - CKAP4 Q07065 VAR_027853 p.Ala348Thr LB/B rs3088113 - CKAP5 Q14008 VAR_045627 p.Tyr785Cys LB/B rs11038988 - CKB P12277 VAR_025838 p.Lys177Arg LB/B rs36002620 - CKB P12277 VAR_025839 p.Ser309Leu LB/B rs35156510 - CKB P12277 VAR_049674 p.Leu360Phe LB/B rs12505 - CKM P06732 VAR_018680 p.Glu83Gly LB/B rs11559024 - CKM P06732 VAR_018681 p.Leu127Val LB/B rs17875653 - CKM P06732 VAR_018682 p.Gly243Ala LB/B rs17875625 - CKM P06732 VAR_049675 p.Thr166Met LB/B rs17357122 - CLASP1 Q7Z460 VAR_053818 p.Ile233Thr LB/B rs17761055 - CLASRP Q8N2M8 VAR_035490 p.Leu213Ser US - A breast cancer sample CLC Q05315 VAR_014765 p.Ala28Val LB/B rs17608 - CLCA1 A8K7I4 VAR_043146 p.Asn357Ser LB/B rs2734705 - CLCA1 A8K7I4 VAR_043147 p.Met524Thr LB/B rs2791494 - CLCA1 A8K7I4 VAR_054654 p.Leu65Phe LB/B rs2145412 - CLCA1 A8K7I4 VAR_054655 p.Arg152Lys LB/B rs2753386 - CLCA1 A8K7I4 VAR_054656 p.Glu406Val LB/B rs1142185 - CLCA1 A8K7I4 VAR_054657 p.Lys426Arg LB/B rs4647852 - CLCA1 A8K7I4 VAR_054658 p.Tyr661His LB/B rs5744409 - CLCA1 A8K7I4 VAR_054659 p.Lys760Asn LB/B rs2791483 - CLCA2 Q9UQC9 VAR_043148 p.Gln306Glu LB/B rs17409304 - CLCA2 Q9UQC9 VAR_043149 p.Gly754Glu US - A breast cancer sample CLCA2 Q9UQC9 VAR_054057 p.Val80Ile LB/B rs11580625 - CLCA2 Q9UQC9 VAR_054058 p.Gly534Asp LB/B rs1413426 - CLCA3P Q9Y6N3 VAR_035296 p.Tyr84Thr LB/B rs2292830 - CLCA3P Q9Y6N3 VAR_035297 p.Ile104Thr LB/B rs2292829 - CLCA4 Q14CN2 VAR_045816 p.Pro43Ser LB/B rs2231580 - CLCA4 Q14CN2 VAR_045817 p.Asp443Val LB/B rs2839932 - CLCA4 Q14CN2 VAR_045818 p.Met449Leu LB/B rs1011048 - CLCA4 Q14CN2 VAR_045819 p.Val810Leu LB/B rs2231604 - CLCC1 Q96S66 VAR_034673 p.Ser368Arg LB/B rs168107 - CLCC1 Q96S66 VAR_083125 p.Asp25Glu LP/P rs750180668 Retinitis pigmentosa 32 (RP32) [MIM:609913] CLCF1 Q9UBD9 VAR_028354 p.Arg197Leu LP/P rs104894203 Crisponi/Cold-induced sweating syndrome 2 (CISS2) [MIM:610313] CLCN1 P35523 VAR_001582 p.Arg105Cys LP/P rs201509501 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001583 p.Gly118Trp LB/B rs10282312 - CLCN1 P35523 VAR_001584 p.Asp136Gly LP/P - Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001585 p.Tyr150Cys LP/P - Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001586 p.Phe161Val LP/P - Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_001586 p.Phe161Val LP/P - Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001587 p.Val165Gly LP/P rs1586485438 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001588 p.Phe167Leu LP/P rs149729531 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001589 p.Gly200Arg LP/P rs1563074523 Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_001589 p.Gly200Arg LP/P rs1563074523 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001590 p.Gly230Glu LP/P rs80356700 Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_001590 p.Gly230Glu LP/P rs80356700 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001591 p.Val236Leu LP/P rs776173406 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001592 p.Tyr261Cys LP/P rs200621976 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001593 p.Gly285Glu LP/P rs150885084 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001594 p.Val286Ala LP/P rs80356689 Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_001595 p.Ile290Met LP/P rs80356690 Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_001596 p.Glu291Lys LP/P rs121912805 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001597 p.Arg300Gln LB/B rs118066140 - CLCN1 P35523 VAR_001598 p.Phe307Ser LP/P rs80356701 Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_001599 p.Ala313Thr LP/P rs80356692 Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_001599 p.Ala313Thr LP/P rs80356692 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001600 p.Arg317Gln LP/P rs80356702 Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_001601 p.Val327Ile LP/P rs774396430 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001602 p.Ile329Thr LP/P - Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001603 p.Arg338Gln LP/P rs80356703 Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_001603 p.Arg338Gln LP/P rs80356703 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001604 p.Phe413Cys LP/P rs121912799 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001605 p.Ala415Val LP/P - Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001606 p.Ala437Thr LB/B rs41276054 - CLCN1 P35523 VAR_001607 p.Pro480Leu LP/P rs80356694 Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_001608 p.Gly482Arg LP/P rs746125212 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001609 p.Met485Val LP/P rs146457619 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001610 p.Arg496Ser LP/P rs121912801 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001611 p.Gln552Arg LP/P rs80356696 Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_001611 p.Gln552Arg LP/P rs80356696 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001612 p.Ile556Asn LP/P rs80356697 Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_001612 p.Ile556Asn LP/P rs80356697 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001613 p.Val563Ile LP/P - Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_001614 p.Phe708Leu LP/P - Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_036300 p.Glu548Lys US rs546411827 A breast cancer sample CLCN1 P35523 VAR_047779 p.Pro727Leu LB/B rs13438232 - CLCN1 P35523 VAR_075588 p.Gln43Arg LP/P rs868831424 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075589 p.Ser70Leu US rs769312894 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075590 p.Thr82Ala US rs772100356 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075591 p.Met128Val LP/P rs80356699 Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_075592 p.Tyr137Asp LP/P rs748639603 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075593 p.Gln154Arg LB/B rs111482384 - CLCN1 P35523 VAR_075594 p.Gln160His LP/P rs771532474 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075595 p.Trp164Arg LP/P - Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075596 p.Gly190Ser LP/P rs797045032 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075597 p.Glu193Lys LP/P rs80356686 Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_075598 p.Ile197Arg LP/P - Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075599 p.Leu198Pro LP/P rs1347382107 Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_075600 p.Gly270Val LP/P - Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075601 p.Cys277Arg LP/P rs757109632 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075602 p.Cys277Tyr LP/P - Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075603 p.Gln412Pro LP/P rs1279658001 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075604 p.Arg453Trp US rs376026619 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075605 p.Phe484Leu LP/P rs1312002847 Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_075606 p.Gly499Arg LP/P rs121912807 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075607 p.Ile527Thr US - Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075608 p.Thr533Ile US - Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075609 p.Val536Leu US rs777685454 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075610 p.Lys614Asn LB/B rs140205115 - CLCN1 P35523 VAR_075611 p.Leu628Pro US - Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075612 p.Val640Gly LP/P rs1803111906 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075613 p.Gly845Ser US rs755433272 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075614 p.Gly855Glu US rs1554439879 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075615 p.Pro932Leu US rs80356706 Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_075616 p.Val947Glu US - Myotonia congenita, autosomal recessive (MCAR) [MIM:255700] CLCN1 P35523 VAR_077244 p.Pro480His LP/P - Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN1 P35523 VAR_079520 p.Glu950Lys US rs201506176 Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] CLCN2 P51788 VAR_015989 p.Gly715Glu US rs137852681 Juvenile absence epilepsy 2 (JAE2) [MIM:607628] CLCN2 P51788 VAR_054550 p.Thr668Ser LB/B rs9820367 - CLCN2 P51788 VAR_054551 p.Glu718Asp LB/B rs2228292 - CLCN2 P51788 VAR_057886 p.Pro48Arg LB/B rs115661422 - CLCN2 P51788 VAR_057887 p.Arg68His LB/B rs61729156 - CLCN2 P51788 VAR_057888 p.Gly199Ala LB/B rs863225248 - CLCN2 P51788 VAR_057889 p.Arg235Gln LP/P rs71318369 Juvenile myoclonic epilepsy 8 (EJM8) [MIM:607628] CLCN2 P51788 VAR_057890 p.Arg577Gln LP/P rs137852682 Epilepsy, idiopathic generalized 11 (EIG11) [MIM:607628] CLCN2 P51788 VAR_057891 p.Arg644Cys LB/B rs148545588 - CLCN2 P51788 VAR_057892 p.Arg646Gln LB/B rs115961753 - CLCN2 P51788 VAR_057893 p.Arg725Trp LB/B rs114702742 - CLCN2 P51788 VAR_057894 p.Arg747His LB/B rs144164281 - CLCN2 P51788 VAR_058426 p.Ser719Leu US rs138573287 - CLCN2 P51788 VAR_070977 p.Ala500Val LP/P rs587777111 Leukoencephalopathy with ataxia (LKPAT) [MIM:615651] CLCN2 P51788 VAR_081154 p.Met22Lys LP/P rs758379595 Hyperaldosteronism, familial, 2 (HALD2) [MIM:605635] CLCN2 P51788 VAR_081155 p.Gly24Asp LP/P rs1085307938 Hyperaldosteronism, familial, 2 (HALD2) [MIM:605635] CLCN2 P51788 VAR_081156 p.Tyr26Asn LP/P rs1553857113 Hyperaldosteronism, familial, 2 (HALD2) [MIM:605635] CLCN2 P51788 VAR_081157 p.Arg172Gln LP/P rs1293789661 Hyperaldosteronism, familial, 2 (HALD2) [MIM:605635] CLCN2 P51788 VAR_081159 p.Ser865Arg LP/P rs1553853557 Hyperaldosteronism, familial, 2 (HALD2) [MIM:605635] CLCN3 P51790 VAR_086219 p.Tyr85Cys LP/P - Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) [MIM:619512] CLCN3 P51790 VAR_086220 p.Ile252Thr LP/P rs1732397227 Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) [MIM:619512] CLCN3 P51790 VAR_086221 p.Val324Ala LP/P - Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) [MIM:619512] CLCN3 P51790 VAR_086222 p.Ala413Val US rs1190062987 Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) [MIM:619512] CLCN3 P51790 VAR_086223 p.Ser453Arg LP/P - Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) [MIM:619512] CLCN3 P51790 VAR_086224 p.Thr570Ile LP/P rs1732900321 Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) [MIM:619512] CLCN3 P51790 VAR_086225 p.Ile607Thr LP/P - Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) [MIM:619512] CLCN3 P51790 VAR_086226 p.Val772Ala LP/P - Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) [MIM:619512] CLCN4 P51793 VAR_077819 p.Gly78Ser LP/P rs1569226551 Raynaud-Claes syndrome (MRXSRC) [MIM:300114] CLCN4 P51793 VAR_077820 p.Leu221Val LP/P rs1569230006 Raynaud-Claes syndrome (MRXSRC) [MIM:300114] CLCN4 P51793 VAR_077821 p.Val536Met LP/P rs1569231897 Raynaud-Claes syndrome (MRXSRC) [MIM:300114] CLCN4 P51793 VAR_077822 p.Gly544Arg LP/P rs587777161 Raynaud-Claes syndrome (MRXSRC) [MIM:300114] CLCN4 P51793 VAR_077823 p.Gly731Arg LP/P rs1569233549 Raynaud-Claes syndrome (MRXSRC) [MIM:300114] CLCN4 P51793 VAR_083577 p.Asp15Asn US rs879255591 Raynaud-Claes syndrome (MRXSRC) [MIM:300114] CLCN4 P51793 VAR_083578 p.Val212Gly LP/P rs879255580 Raynaud-Claes syndrome (MRXSRC) [MIM:300114] CLCN4 P51793 VAR_083579 p.Leu221Pro LP/P rs879255581 Raynaud-Claes syndrome (MRXSRC) [MIM:300114] CLCN4 P51793 VAR_083580 p.Val275Met LP/P rs879255585 Raynaud-Claes syndrome (MRXSRC) [MIM:300114] CLCN4 P51793 VAR_083581 p.Ser534Leu LP/P rs879255582 Raynaud-Claes syndrome (MRXSRC) [MIM:300114] CLCN4 P51793 VAR_083582 p.Ala555Val LP/P rs879255583 Raynaud-Claes syndrome (MRXSRC) [MIM:300114] CLCN4 P51793 VAR_083583 p.Arg718Trp LP/P rs879255584 Raynaud-Claes syndrome (MRXSRC) [MIM:300114] CLCN5 P51795 VAR_001616 p.Gly127Val LP/P rs151340629 Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_001617 p.Leu270Arg LP/P rs151340622 Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_001618 p.Ser314Leu LP/P rs151340626 Hypophosphatemic rickets, X-linked recessive (XLRHR) [MIM:300554] CLCN5 P51795 VAR_001619 p.Arg350Pro LP/P rs151340628 Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990] CLCN5 P51795 VAR_001620 p.Gly576Glu LP/P rs151340625 Nephrolithiasis, X-linked recessive, with renal failure (XRN) [MIM:310468] CLCN5 P51795 VAR_001621 p.Gly582Arg LP/P - Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_001622 p.Ser590Pro LP/P rs151340623 Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_001623 p.Glu597Asp LP/P - Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_048694 p.Met212Ile LB/B rs34800648 - CLCN5 P51795 VAR_065591 p.Gly249Asp LP/P - Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065592 p.Ser273Leu LP/P - Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065593 p.Gly282Ala LP/P - Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065594 p.Cys289Arg LP/P - Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065595 p.Cys291Arg LP/P - Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065596 p.Leu295Pro LP/P rs273585645 Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065597 p.Gly330Val LP/P rs151340630 Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065598 p.Glu337Ala LP/P - Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065600 p.Ser340Gly LP/P - Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065601 p.Ser340Arg LP/P - Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065602 p.Tyr342Cys LP/P rs273585644 Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065603 p.Phe343Leu LP/P - Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065604 p.Leu348Phe LP/P rs273585648 Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065605 p.Asn410Lys LP/P rs273585646 Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065606 p.Gly532Asp LP/P - Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065607 p.Leu539Pro LP/P - Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065608 p.Gly583Glu LP/P - Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065609 p.Gly583Arg LP/P rs273585647 Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065610 p.Arg586Trp LP/P rs797044812 Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065611 p.Ile594Lys LP/P - Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990] CLCN5 P51795 VAR_065612 p.Ser615Asn LP/P - Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065613 p.Lys616Glu LP/P - Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065614 p.Trp617Gly LP/P rs273585650 Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_065615 p.Thr727Ser LP/P rs144207967 Dent disease 1 (DENT1) [MIM:300009] CLCN5 P51795 VAR_075519 p.Gly403Arg US - Dent disease 1 (DENT1) [MIM:300009] CLCN6 P51797 VAR_023051 p.Glu198Gly LB/B rs198400 - CLCN6 P51797 VAR_085384 p.Tyr553Cys LP/P rs1644918844 Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities (CONRIBA) [MIM:619173] CLCN7 P51798 VAR_017838 p.Arg762Gln LP/P rs121434433 Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_017838 p.Arg762Gln LP/P rs121434433 Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_017839 p.Leu766Pro LP/P rs121434434 Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_017840 p.Arg767Trp LP/P rs121434435 Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_017840 p.Arg767Trp LP/P rs121434435 Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_020997 p.Gly215Arg LP/P rs397515539 Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_020998 p.Gly240Arg LP/P rs1360480518 Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_020999 p.Pro249Arg LP/P - Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_021000 p.Arg286Gln LP/P rs760956030 Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_021001 p.Met332Val LP/P - Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_021002 p.Val418Met LB/B rs12926089 - CLCN7 P51798 VAR_021003 p.Leu490Phe LP/P - Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_021004 p.Arg526Trp LP/P rs1233085260 Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_021005 p.Leu614Pro LP/P rs1064794323 Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_021006 p.Gly677Val LP/P - Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_021007 p.Ser744Phe LP/P rs1320932332 Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_021008 p.Arg767Gln LP/P rs772579858 Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_037427 p.Ile261Phe LP/P rs121434436 Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064637 p.Leu132Pro LP/P - Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064638 p.Asn214Ser LP/P rs367567630 Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064640 p.Phe318Leu LP/P rs2038825509 Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_064641 p.Arg403Gln LP/P rs765444328 Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064642 p.Gly521Arg LP/P rs368190250 Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064643 p.Arg526Gln LP/P rs139329533 Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064644 p.Leu549Pro LP/P - Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064645 p.Leu651Pro LP/P - Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064646 p.Phe758Leu LP/P rs760740877 Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_064647 p.Arg762Trp LP/P rs1490598538 Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064648 p.Arg767Pro LP/P - Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_075576 p.Leu213Phe US - Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_075577 p.Leu224Arg US - Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_075578 p.Arg286Trp US rs1291061962 Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_075579 p.Ser290Tyr US - Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_075580 p.Ala299Val US rs977932714 Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_075581 p.Arg326Gly US - Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_075582 p.Gly347Arg US - Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_075583 p.Ser473Asn US - Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_075584 p.Leu564Pro US - Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_083175 p.Tyr715Cys LP/P rs1057517718 Hypopigmentation, organomegaly, and delayed myelination and development (HOD) [MIM:618541] CLCNKA P51800 VAR_014465 p.Ala447Thr LB/B rs1805152 - CLCNKA P51800 VAR_019787 p.Arg83Gly LB/B rs10927887 - CLCNKA P51800 VAR_019788 p.Tyr315Phe LB/B rs12126269 - CLCNKA P51800 VAR_030784 p.Met67Ile LB/B rs17855678 - CLCNKA P51800 VAR_033768 p.Arg45His LB/B rs35932996 - CLCNKA P51800 VAR_048695 p.Arg8His LB/B rs9442189 - CLCNKA P51800 VAR_059209 p.Arg534Trp LB/B rs12140223 - CLCNKA P51800 VAR_061095 p.Pro683Leu LB/B rs12746751 - CLCNKA P51800 VAR_063074 p.Trp80Cys LP/P rs121909137 Bartter syndrome 4B, neonatal, with sensorineural deafness (BARTS4B) [MIM:613090] CLCNKA P51800 VAR_068971 p.His357Gln LB/B rs79751787 - CLCNKB P51801 VAR_001624 p.Pro124Leu LP/P rs121909131 Bartter syndrome 3 (BARTS3) [MIM:607364] CLCNKB P51801 VAR_001625 p.Ala204Thr LP/P rs121909132 Bartter syndrome 3 (BARTS3) [MIM:607364] CLCNKB P51801 VAR_001626 p.Ala349Asp LP/P rs121909134 Bartter syndrome 3 (BARTS3) [MIM:607364] CLCNKB P51801 VAR_001627 p.Tyr432His LP/P rs121909135 Bartter syndrome 3 (BARTS3) [MIM:607364] CLCNKB P51801 VAR_001628 p.Arg438Cys LP/P rs121909133 Bartter syndrome 3 (BARTS3) [MIM:607364] CLCNKB P51801 VAR_014466 p.Ser88Arg LB/B rs5256 - CLCNKB P51801 VAR_014467 p.Asn143His LB/B rs5259 - CLCNKB P51801 VAR_014468 p.Val334Leu LB/B rs5251 - CLCNKB P51801 VAR_014469 p.Met562Thr LB/B rs5253 - CLCNKB P51801 VAR_024409 p.Lys578Glu LB/B rs2275166 - CLCNKB P51801 VAR_033770 p.Phe4Leu LB/B rs34851419 - CLCNKB P51801 VAR_033771 p.Val104Ile LB/B rs35530360 - CLCNKB P51801 VAR_033772 p.Ala214Gly LB/B rs1889789 - CLCNKB P51801 VAR_033773 p.Ile419Val LB/B rs6650119 - CLCNKB P51801 VAR_046797 p.Arg27Leu LB/B rs2015352 - CLCNKB P51801 VAR_046799 p.Arg395Trp LB/B rs34255952 - CLCNKB P51801 VAR_046800 p.Thr481Ser LB/B rs12140311 - CLCNKB P51801 VAR_046801 p.Ser660Leu LB/B rs5255 - CLCNKB P51801 VAR_069104 p.Ala287Val LB/B rs7367494 - CLDN10 P78369 VAR_080053 p.Asn48Lys LP/P rs759408749 HELIX syndrome (HELIX) [MIM:617671] CLDN10 P78369 VAR_080054 p.Ser131Leu LP/P rs1555299783 HELIX syndrome (HELIX) [MIM:617671] CLDN14 O95500 VAR_010738 p.Val85Asp LP/P rs74315437 Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035] CLDN14 O95500 VAR_017227 p.Thr4Met LB/B rs113831133 - CLDN14 O95500 VAR_069979 p.Arg81His LP/P rs368027306 Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035] CLDN14 O95500 VAR_069980 p.Ile86Val LB/B - - CLDN14 O95500 VAR_069981 p.Ser87Ile LP/P - Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035] CLDN14 O95500 VAR_069982 p.Ala94Val LP/P - Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035] CLDN14 O95500 VAR_069983 p.Gly232Arg LP/P rs786204841 Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035] CLDN16 Q9Y5I7 VAR_008172 p.Gly169Arg LP/P rs104893721 Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_008174 p.Leu97Pro LP/P rs104893725 Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_008175 p.Gly121Arg LP/P rs104893722 Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_008176 p.Gly128Asp LP/P rs104893723 Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_008177 p.Phe162Cys LP/P rs104893726 Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_008178 p.Gly163Asp LP/P rs104893727 Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_008179 p.Ser165Phe LP/P rs104893728 Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017228 p.His71Asp LP/P - Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017229 p.Leu75Pro LP/P rs104893731 Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017230 p.Arg79Leu LP/P rs968906940 Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017231 p.Leu81Phe LP/P rs104893729 Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017232 p.Leu81Pro LP/P - Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017233 p.Leu81Trp LP/P rs104893730 Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017234 p.Gly128Ala LP/P - Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017235 p.Ala139Thr LP/P rs1270704258 Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017236 p.Arg146Thr LP/P - Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017237 p.Ser165Pro LP/P - Hypomagnesemia 3 (HOMG3) [MIM:248250] CLDN17 P56750 VAR_033774 p.Ala82Thr LB/B rs35531957 - CLDN18 P56856 VAR_033775 p.Met149Leu LB/B rs17204075 - CLDN19 Q8N6F1 VAR_031238 p.Leu13Phe LB/B rs12065961 - CLDN19 Q8N6F1 VAR_031239 p.Gly20Asp LP/P rs118203979 Hypomagnesemia 5, renal, with or without ocular involvement (HOMG5) [MIM:248190] CLDN19 Q8N6F1 VAR_031240 p.Gln57Glu LP/P rs118203980 Hypomagnesemia 5, renal, with or without ocular involvement (HOMG5) [MIM:248190] CLDN19 Q8N6F1 VAR_031241 p.Leu90Pro LP/P rs118203981 Hypomagnesemia 5, renal, with or without ocular involvement (HOMG5) [MIM:248190] CLDN2 P57739 VAR_085653 p.Gly161Arg US - Azoospermia, obstructive, with nephrolithiasis (OAZON) [MIM:301060] CLDN23 Q96B33 VAR_059219 p.Val210Met LB/B rs12548737 - CLDN24 A6NM45 VAR_055660 p.Leu18Phe LB/B rs7688467 - CLDN25 C9JDP6 VAR_063401 p.His219Tyr LB/B rs35111413 - CLDN6 P56747 VAR_017151 p.Ile143Val LB/B rs2257295 - CLDN7 O95471 VAR_014538 p.Val197Ala LB/B rs4562 - CLDN7 O95471 VAR_030736 p.Ala133Thr LB/B rs17849410 - CLDN8 P56748 VAR_020387 p.Ser151Pro LB/B rs686364 - CLDN8 P56748 VAR_024417 p.Thr129Ala LB/B rs685967 - CLDN8 P56748 VAR_048739 p.Thr25Ala LB/B rs1557294 - CLEC10A Q8IUN9 VAR_021262 p.Cys35Arg LB/B rs90951 - CLEC10A Q8IUN9 VAR_050113 p.Arg73Lys LB/B rs16956478 - CLEC10A Q8IUN9 VAR_050114 p.Thr100Met LB/B rs35318160 - CLEC10A Q8IUN9 VAR_050115 p.Ala203Gly LB/B rs35101468 - CLEC11A Q9Y240 VAR_050116 p.Pro104Arg LB/B rs2303688 - CLEC12A Q5QGZ9 VAR_037669 p.Lys244Gln LB/B rs479499 - CLEC12B Q2HXU8 VAR_037670 p.Thr6Asn LB/B rs1359082 - CLEC12B Q2HXU8 VAR_037671 p.Val116Leu LB/B rs637790 - CLEC16A Q2KHT3 VAR_030288 p.Gly906Glu LB/B rs2241100 - CLEC18A A5D8T8 VAR_059449 p.Val118Ala LB/B rs2549097 - CLEC18A A5D8T8 VAR_074610 p.Thr151Met LB/B rs75776403 - CLEC18A A5D8T8 VAR_074611 p.Ser339Arg LB/B - - CLEC1A Q8NC01 VAR_050106 p.Gly26Ala LB/B rs2306894 - CLEC1B Q9P126 VAR_031047 p.Ile20Val LB/B rs612593 - CLEC1B Q9P126 VAR_031048 p.Ser24Pro LB/B rs2273986 - CLEC1B Q9P126 VAR_031049 p.Ser28Phe LB/B rs2273987 - CLEC1B Q9P126 VAR_031050 p.Gly64Asp LB/B rs583903 - CLEC2A Q6UVW9 VAR_029629 p.Gly136Asp LB/B rs526680 - CLEC2D Q9UHP7 VAR_038172 p.Asn19Lys LB/B rs16914640 - CLEC2D Q9UHP7 VAR_038173 p.Leu23Val LB/B rs3764022 - CLEC3A O75596 VAR_021259 p.Gln197Lys LB/B rs2072663 - CLEC3B P05452 VAR_004189 p.Ala55Ser LB/B - - CLEC3B P05452 VAR_004190 p.Val58Met LB/B - - CLEC3B P05452 VAR_012318 p.Gly106Ser LB/B rs13963 - CLEC3B P05452 VAR_087508 p.Ala180Asp LP/P - Macular dystrophy, retinal, 4 (MCDR4) [MIM:619977] CLEC4A Q9UMR7 VAR_021260 p.His36Leu LB/B rs2024301 - CLEC4D Q8WXI8 VAR_021261 p.Ser32Gly LB/B rs4304840 - CLEC4F Q8N1N0 VAR_054429 p.Arg101Gln LB/B rs2075221 - CLEC4F Q8N1N0 VAR_054430 p.Arg351His LB/B rs722896 - CLEC4F Q8N1N0 VAR_054431 p.Lys564Arg LB/B rs2287101 - CLEC4M Q9H2X3 VAR_021957 p.Asp291Asn LB/B rs2277998 - CLEC4M Q9H2X3 VAR_050107 p.Arg164Gln LB/B rs11465376 - CLEC4M Q9H2X3 VAR_050108 p.Tyr205Cys LB/B rs479448 - CLEC4M Q9H2X3 VAR_050109 p.Tyr251Cys LB/B rs479448 - CLEC5A Q9NY25 VAR_050110 p.Arg141His LB/B rs35942193 - CLEC7A Q9BXN2 VAR_050111 p.Ile223Ser LB/B rs16910527 - CLEC9A Q6UXN8 VAR_050112 p.Ala107Gly LB/B rs11831360 - CLGN O14967 VAR_024400 p.Ala160Ser LB/B rs2567241 - CLGN O14967 VAR_033776 p.Val290Ile LB/B rs2175563 - CLGN O14967 VAR_048590 p.Arg352Trp LB/B rs12513290 - CLHC1 Q8NHS4 VAR_039944 p.Ala178Val LB/B rs9677948 - CLHC1 Q8NHS4 VAR_039945 p.Val426Ile LB/B rs6716066 - CLHC1 Q8NHS4 VAR_039946 p.Ala503Val LB/B rs14026 - CLHC1 Q8NHS4 VAR_039947 p.Asp552Tyr LB/B rs3186099 - CLIC2 O15247 VAR_068898 p.His101Gln LP/P rs398122917 Intellectual developmental disorder, X-linked, syndromic 32 (MRXS32) [MIM:300886] CLIC3 O95833 VAR_020424 p.Pro38His LB/B rs2292923 - CLIC5 Q9NZA1 VAR_047541 p.Pro257His LB/B rs35822882 - CLIC5 Q9NZA1 VAR_059208 p.Thr114Ala LB/B rs723580 - CLIC6 Q96NY7 VAR_014139 p.Asp632Gly LB/B rs3171439 - CLIP1 P30622 VAR_020398 p.Asp1080Glu LB/B rs1129167 - CLIP1 P30622 VAR_036446 p.Met1213Ile US rs1183319975 A breast cancer sample CLIP1 P30622 VAR_048672 p.Arg780Trp LB/B rs3741447 - CLIP1 P30622 VAR_048673 p.Ser941Pro LB/B rs17883517 - CLIP1 P30622 VAR_048674 p.Ala1224Ser LB/B rs17881033 - CLIP1 P30622 VAR_059206 p.Ser162Pro LB/B rs7963597 - CLIP2 Q9UDT6 VAR_023618 p.Arg977Pro LB/B rs2522943 - CLIP2 Q9UDT6 VAR_055636 p.Asp961Glu LB/B rs17145468 - CLIP3 Q96DZ5 VAR_027962 p.Asp175Val LB/B rs17851002 - CLIP4 Q8N3C7 VAR_048675 p.Arg486Leu LB/B rs3100246 - CLIP4 Q8N3C7 VAR_048676 p.Thr613Pro LB/B rs34327508 - CLK1 P49759 VAR_040409 p.Ser61Phe LB/B rs55989135 - CLK1 P49759 VAR_040410 p.Arg118Gly LB/B rs56135616 - CLK1 P49759 VAR_040411 p.Pro307Ser LB/B rs35412475 - CLK1 P49759 VAR_040412 p.Met440Thr LB/B rs35393352 - CLK1 P49759 VAR_046551 p.Asn99Asp LB/B rs6735666 - CLK1 P49759 VAR_051620 p.Glu459Gly LB/B rs12709 - CLK3 P49761 VAR_040413 p.Arg486Cys LB/B rs975796055 - CLK3 P49761 VAR_045579 p.Gln607Arg LB/B rs910378995 - CLK3 P49761 VAR_045580 p.Arg628Trp LB/B rs920443187 - CLK4 Q9HAZ1 VAR_040414 p.Leu352Phe LB/B rs35272416 - CLK4 Q9HAZ1 VAR_040415 p.Ile363Val LB/B rs55746655 - CLLU1 Q5K131 VAR_034663 p.Ser9Phe LB/B rs12580153 - CLMN Q96JQ2 VAR_050866 p.Pro963Leu LB/B rs10149705 - CLMP Q9H6B4 VAR_049824 p.Arg69His LB/B rs2276348 - CLMP Q9H6B4 VAR_069713 p.Val124Asp LP/P rs587776967 Congenital short bowel syndrome (CSBS) [MIM:615237] CLN3 Q13286 VAR_005131 p.Leu101Pro LP/P rs386833714 Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] CLN3 Q13286 VAR_005132 p.Leu170Pro LP/P rs386833727 Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] CLN3 Q13286 VAR_005133 p.Glu295Lys LP/P rs121434286 Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] CLN3 Q13286 VAR_005134 p.Val330Phe LP/P rs386833744 Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] CLN3 Q13286 VAR_005135 p.Arg334Cys LP/P rs386833694 Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] CLN3 Q13286 VAR_005136 p.Arg334His LP/P rs386833695 Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] CLN3 Q13286 VAR_066892 p.Cys134Arg LP/P rs386833719 Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] CLN3 Q13286 VAR_066893 p.Gly187Ala LP/P rs386833730 Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] CLN3 Q13286 VAR_066894 p.Gly189Arg LP/P rs386833731 Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] CLN5 O75503 VAR_005137 p.Asp230Asn LP/P rs28940280 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731] CLN5 O75503 VAR_005138 p.Lys319Arg LB/B rs1800209 - CLN5 O75503 VAR_042700 p.Arg63His LP/P rs104894386 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731] CLN5 O75503 VAR_042701 p.Tyr209Asp LP/P rs386833981 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731] CLN5 O75503 VAR_042702 p.Arg63Pro LP/P rs104894386 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731] CLN5 O75503 VAR_059031 p.Glu219Ala LB/B rs11842935 - CLN5 O75503 VAR_059032 p.Trp330Cys LP/P rs386833968 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731] CLN5 O75503 VAR_066895 p.Trp26Arg LB/B rs199727787 - CLN5 O75503 VAR_066896 p.Cys77Tyr LP/P rs267606738 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731] CLN5 O75503 VAR_066897 p.Asn143Ser LP/P rs386833975 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731] CLN5 O75503 VAR_066898 p.Leu149Pro LP/P rs386833976 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731] CLN5 O75503 VAR_066899 p.Pro156Ser LP/P rs386833977 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731] CLN5 O75503 VAR_066900 p.Trp158Arg LP/P rs147065248 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731] CLN5 O75503 VAR_066901 p.Trp158Ser LP/P rs386833978 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731] CLN5 O75503 VAR_066902 p.Asn193Lys LB/B rs138611001 - CLN5 O75503 VAR_066903 p.Tyr325Cys LP/P rs148862100 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731] CLN6 Q9NWW5 VAR_015683 p.Gly123Asp LP/P rs104894484 Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_015686 p.Trp300Arg LP/P rs750937323 Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_021549 p.Arg62His LP/P rs751486476 Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_021550 p.Glu72Gln LB/B rs104894483 - CLN6 Q9NWW5 VAR_021551 p.Tyr221Ser LP/P rs764571295 Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_021552 p.Met241Thr LP/P rs1555438255 Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_021554 p.Pro299Leu LP/P rs758921701 Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_058436 p.Pro159Leu LP/P rs919850756 Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_058437 p.Tyr221Cys LP/P rs764571295 Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_065834 p.Arg6Thr LP/P rs154774636 Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive (CLN4A) [MIM:204300] CLN6 Q9NWW5 VAR_065835 p.Ala34Thr LB/B rs146198681 - CLN6 Q9NWW5 VAR_065836 p.Leu47Phe LP/P rs154774635 Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive (CLN4A) [MIM:204300] CLN6 Q9NWW5 VAR_065837 p.Leu67Pro LP/P rs154774633 Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive (CLN4A) [MIM:204300] CLN6 Q9NWW5 VAR_065838 p.Asn77Lys LP/P rs154774641 Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive (CLN4A) [MIM:204300] CLN6 Q9NWW5 VAR_065839 p.Arg103Gln LP/P rs154774634 Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive (CLN4A) [MIM:204300] CLN6 Q9NWW5 VAR_065840 p.Arg149His LP/P rs154774638 Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive (CLN4A) [MIM:204300] CLN6 Q9NWW5 VAR_065841 p.Phe238Thr LP/P - Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive (CLN4A) [MIM:204300] CLN6 Q9NWW5 VAR_065842 p.Ser308Thr LB/B rs143578698 - CLN6 Q9NWW5 VAR_066904 p.Ala12Thr LB/B rs112239768 - CLN6 Q9NWW5 VAR_066905 p.Gly17Ser US rs763944821 Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_066906 p.Asn90Lys LP/P - Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_066907 p.Ser104Phe LP/P - Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_066908 p.Arg149Cys LP/P rs747229909 Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_066909 p.Leu169Pro LP/P rs1344658850 Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_066910 p.Phe186Ser LP/P - Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_066911 p.Phe234Leu LP/P rs959199004 Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_066912 p.Arg252His LP/P rs374681194 Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_066913 p.Gly259Ser LP/P rs150363441 Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_066914 p.Pro297Thr LP/P rs1194940137 Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780] CLN8 Q9UBY8 VAR_013174 p.Arg24Gly LP/P rs104894064 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE) [MIM:610003] CLN8 Q9UBY8 VAR_013175 p.Ala155Val LB/B rs386834128 - CLN8 Q9UBY8 VAR_026554 p.Leu16Met LP/P rs386834129 Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_026555 p.Thr170Met LP/P rs188259026 Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_026556 p.Arg204Cys LP/P rs104894060 Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_026557 p.Trp263Cys LP/P rs28940569 Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_031704 p.His92Tyr LB/B rs34030778 - CLN8 Q9UBY8 VAR_058438 p.Tyr158Cys LP/P rs386834130 Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_058439 p.Gly237Arg LP/P rs746645358 Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_060573 p.Ala30Pro LP/P rs137852883 Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_060575 p.Gln194Arg LP/P rs386834133 Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_066920 p.Arg70His LP/P rs386834124 Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_066921 p.Gln76Arg LP/P rs386834125 Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_066922 p.Ile107Ser LP/P rs386834126 Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_066923 p.Asn125Ser LB/B rs142269885 - CLN8 Q9UBY8 VAR_066924 p.His139Tyr LP/P rs386834127 Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_066926 p.Gly221Ser LP/P rs386834136 Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_066927 p.Pro229Ala LB/B rs150047904 - CLN8 Q9UBY8 VAR_066928 p.Glu269Val LP/P rs139003032 Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_075367 p.Arg204Leu LP/P rs386834134 Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_075368 p.Leu207Arg US rs781166361 Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143] CLNK Q7Z7G1 VAR_037984 p.Ser65Gly LB/B rs16869924 - CLNS1A P54105 VAR_015736 p.Gln20His LB/B - - CLNS1A P54105 VAR_015737 p.Met218Thr LB/B - - CLOCK O15516 VAR_029076 p.Leu395Ile LB/B rs6855837 - CLOCK O15516 VAR_029077 p.His542Arg LB/B rs3762836 - CLOCK O15516 VAR_040061 p.Ser208Cys LB/B rs34897046 - CLOCK O15516 VAR_040062 p.Glu380Lys LB/B rs1056478 - CLP1 Q92989 VAR_070952 p.Arg140His LP/P rs587777616 Pontocerebellar hypoplasia 10 (PCH10) [MIM:615803] CLPB Q9H078 VAR_048740 p.Arg295Thr LB/B rs7938203 - CLPB Q9H078 VAR_073397 p.Thr268Met LP/P rs200032855 3-methylglutaconic aciduria 7B (MGCA7B) [MIM:616271] CLPB Q9H078 VAR_073398 p.Tyr272Cys LP/P rs777313457 3-methylglutaconic aciduria 7B (MGCA7B) [MIM:616271] CLPB Q9H078 VAR_073399 p.Arg408Gly LP/P rs144078282 3-methylglutaconic aciduria 7B (MGCA7B) [MIM:616271] CLPB Q9H078 VAR_073400 p.Met411Ile LP/P rs786205137 3-methylglutaconic aciduria 7B (MGCA7B) [MIM:616271] CLPB Q9H078 VAR_073402 p.Cys486Arg LP/P rs886041118 3-methylglutaconic aciduria 7B (MGCA7B) [MIM:616271] CLPB Q9H078 VAR_073403 p.Glu501Lys LP/P rs748915609 3-methylglutaconic aciduria 7B (MGCA7B) [MIM:616271] CLPB Q9H078 VAR_073404 p.Tyr567Cys LP/P rs150857620 3-methylglutaconic aciduria 7B (MGCA7B) [MIM:616271] CLPB Q9H078 VAR_073405 p.Ala591Val LP/P rs748010262 3-methylglutaconic aciduria 7B (MGCA7B) [MIM:616271] CLPB Q9H078 VAR_073406 p.Tyr617Cys LP/P rs786205138 3-methylglutaconic aciduria 7B (MGCA7B) [MIM:616271] CLPB Q9H078 VAR_073407 p.Gly646Val LP/P rs759500860 3-methylglutaconic aciduria 7B (MGCA7B) [MIM:616271] CLPB Q9H078 VAR_073408 p.Ile682Asn LP/P rs886041120 3-methylglutaconic aciduria 7B (MGCA7B) [MIM:616271] CLPB Q9H078 VAR_087351 p.Arg327Trp LB/B rs148534573 - CLPB Q9H078 VAR_087352 p.Thr388Lys LP/P - Neutropenia, severe congenital 9, autosomal dominant (SCN9) [MIM:619813] CLPB Q9H078 VAR_087353 p.Lys404Thr LP/P - 3-methylglutaconic aciduria 7A (MGCA7A) [MIM:619835] CLPB Q9H078 VAR_087354 p.Pro427Leu LP/P - 3-methylglutaconic aciduria 7A (MGCA7A) [MIM:619835] CLPB Q9H078 VAR_087355 p.Asn496Lys LP/P - Neutropenia, severe congenital 9, autosomal dominant (SCN9) [MIM:619813] CLPB Q9H078 VAR_087356 p.Glu557Lys LP/P rs1590753263 Neutropenia, severe congenital 9, autosomal dominant (SCN9) [MIM:619813] CLPB Q9H078 VAR_087357 p.Gly560Arg LP/P - 3-methylglutaconic aciduria 7A (MGCA7A) [MIM:619835] CLPB Q9H078 VAR_087358 p.Arg561Gly LP/P - Neutropenia, severe congenital 9, autosomal dominant (SCN9) [MIM:619813] CLPB Q9H078 VAR_087359 p.Arg561Gln LP/P rs1590753221 Neutropenia, severe congenital 9, autosomal dominant (SCN9) [MIM:619813] CLPB Q9H078 VAR_087360 p.Arg561Trp LP/P rs1949512456 3-methylglutaconic aciduria 7A (MGCA7A) [MIM:619835] CLPB Q9H078 VAR_087361 p.Arg603His LB/B rs765245566 - CLPB Q9H078 VAR_087362 p.Arg620Cys LP/P - Neutropenia, severe congenital 9, autosomal dominant (SCN9) [MIM:619813] CLPB Q9H078 VAR_087363 p.Arg628Cys US rs150343959 3-methylglutaconic aciduria 7B (MGCA7B) [MIM:616271] CLPB Q9H078 VAR_087364 p.Ala635Lys US - 3-methylglutaconic aciduria 7B (MGCA7B) [MIM:616271] CLPP Q16740 VAR_070092 p.Thr145Pro LP/P rs398123033 Perrault syndrome 3 (PRLTS3) [MIM:614129] CLPP Q16740 VAR_070093 p.Cys147Ser LP/P rs398123034 Perrault syndrome 3 (PRLTS3) [MIM:614129] CLPP Q16740 VAR_074160 p.Tyr229Asp LP/P - Perrault syndrome 3 (PRLTS3) [MIM:614129] CLPS P04118 VAR_047105 p.Arg109Cys LB/B rs41270082 - CLPS P04118 VAR_053040 p.Leu8Pro LB/B rs2766597 - CLPSL1 A2RUU4 VAR_043560 p.Phe15Ser LB/B rs34109614 - CLPTM1 O96005 VAR_071064 p.Tyr478Cys LB/B rs140564801 - CLPTM1L Q96KA5 VAR_042754 p.Lys313Asn US - A breast cancer sample CLPTM1L Q96KA5 VAR_042755 p.Thr537Met LB/B rs33955038 - CLPX O76031 VAR_048826 p.Ile488Thr LB/B rs35754835 - CLPX O76031 VAR_081001 p.Gly298Asp LP/P - Protoporphyria, erythropoietic, 2 (EPP2) [MIM:618015] CLRN1 P58418 VAR_012241 p.Met120Lys LP/P rs121908141 Usher syndrome 3A (USH3A) [MIM:276902] CLRN1 P58418 VAR_030345 p.Asn48Lys LP/P rs111033258 Usher syndrome 3A (USH3A) [MIM:276902] CLRN1 P58418 VAR_030346 p.Leu150Pro LP/P rs121908142 Usher syndrome 3A (USH3A) [MIM:276902] CLRN1 P58418 VAR_053825 p.Lys7Ile LB/B rs3796241 - CLRN1 P58418 VAR_054555 p.Cys40Gly LP/P rs121908143 Usher syndrome 3A (USH3A) [MIM:276902] CLRN1 P58418 VAR_054556 p.Ser105Pro LP/P - Usher syndrome 3A (USH3A) [MIM:276902] CLRN1 P58418 VAR_066673 p.Pro31Leu LP/P rs374390376 Retinitis pigmentosa 61 (RP61) [MIM:614180] CLRN1 P58418 VAR_066674 p.Leu154Trp LP/P rs775098953 Retinitis pigmentosa 61 (RP61) [MIM:614180] CLRN1 P58418 VAR_071434 p.Ile168Asn LP/P - Usher syndrome 3A (USH3A) [MIM:276902] CLRN2 A0PK11 VAR_053826 p.Leu113Val LB/B rs13147559 - CLRN2 A0PK11 VAR_053827 p.Ala153Thr LB/B rs2597791 - CLRN2 A0PK11 VAR_085237 p.Thr165Lys LP/P rs1711990645 Deafness, autosomal recessive, 117 (DFNB117) [MIM:619174] CLRN3 Q8NCR9 VAR_053828 p.Phe75Ile LB/B rs35070529 - CLRN3 Q8NCR9 VAR_069399 p.Ile22Asn LB/B - - CLSPN Q9HAW4 VAR_023439 p.Asn525Ser LB/B rs7537203 - CLSPN Q9HAW4 VAR_035674 p.His439Arg US - A breast cancer sample CLSPN Q9HAW4 VAR_050867 p.Pro892Thr LB/B rs34390044 - CLSPN Q9HAW4 VAR_050868 p.Ser1280Leu LB/B rs35490896 - CLSTN1 O94985 VAR_039552 p.Val474Ala LB/B rs17853245 - CLSTN1 O94985 VAR_039553 p.Ser524Cys LB/B rs17853244 - CLSTN1 O94985 VAR_039554 p.Pro583Arg LB/B rs17853243 - CLSTN1 O94985 VAR_039555 p.Pro857His LB/B rs17855572 - CLSTN1 O94985 VAR_039556 p.Phe870Ser LB/B rs17855573 - CLSTN1 O94985 VAR_048582 p.Ala332Thr LB/B rs7550295 - CLSTN2 Q9H4D0 VAR_036112 p.Ser193Ile US - A colorectal cancer sample CLSTN2 Q9H4D0 VAR_036113 p.Arg765Gln US rs766718816 A colorectal cancer sample CLSTN2 Q9H4D0 VAR_039557 p.Val366Ile LB/B rs7632885 - CLSTN2 Q9H4D0 VAR_055615 p.Ile331Thr LB/B rs17348572 - CLSTN3 Q9BQT9 VAR_036114 p.His874Tyr US - A colorectal cancer sample CLSTN3 Q9BQT9 VAR_048583 p.Ser209Gly LB/B rs7302230 - CLTC Q00610 VAR_080722 p.Pro890Leu LP/P rs1555606635 Intellectual developmental disorder, autosomal dominant 56 (MRD56) [MIM:617854] CLTC Q00610 VAR_080723 p.Leu1047Pro US rs1555607159 Intellectual developmental disorder, autosomal dominant 56 (MRD56) [MIM:617854] CLTC Q00610 VAR_080724 p.Trp1108Arg US - Intellectual developmental disorder, autosomal dominant 56 (MRD56) [MIM:617854] CLTCL1 P53675 VAR_055653 p.Pro61Leu LB/B rs3747059 - CLTCL1 P53675 VAR_055654 p.Lys205Arg LB/B rs5746697 - CLTCL1 P53675 VAR_055655 p.Tyr279Cys LB/B rs807459 - CLTCL1 P53675 VAR_055656 p.Glu691Lys LB/B rs1060374 - CLTCL1 P53675 VAR_055657 p.Lys941Arg LB/B rs35398725 - CLTCL1 P53675 VAR_055658 p.Arg945His LB/B rs36077768 - CLTCL1 P53675 VAR_055659 p.Arg1046Cys LB/B rs712952 - CLTCL1 P53675 VAR_059214 p.Asn1195Ser LB/B rs807547 - CLTCL1 P53675 VAR_059215 p.Met1316Val LB/B rs1061325 - CLTCL1 P53675 VAR_059216 p.Ile1394Thr LB/B rs1633399 - CLTCL1 P53675 VAR_059217 p.Val1592Met LB/B rs2073738 - CLTCL1 P53675 VAR_059218 p.Arg1620His LB/B rs5748024 - CLU P10909 VAR_019366 p.Asn317His LB/B rs9331936 - CLU P10909 VAR_019367 p.Asp328Asn LB/B rs9331938 - CLU P10909 VAR_019368 p.Ser396Leu LB/B rs13494 - CLUAP1 Q96AJ1 VAR_050869 p.Ala68Ser LB/B rs34115694 - CLUAP1 Q96AJ1 VAR_050870 p.Arg401Trp LB/B rs9790 - CLUH O75153 VAR_034008 p.Ala633Val LB/B rs11078312 - CLYBL Q8N0X4 VAR_032099 p.Asp28Tyr LB/B rs17577293 - CLYBL Q8N0X4 VAR_032100 p.Val128Ile LB/B rs35680839 - CLYBL Q8N0X4 VAR_032101 p.Ile241Val LB/B rs3783185 - CMA1 P23946 VAR_011770 p.Gly46Arg LB/B rs5246 - CMA1 P23946 VAR_011771 p.His66Arg LB/B rs5247 - CMA1 P23946 VAR_029190 p.Arg98His LB/B rs13306252 - CMBL Q96DG6 VAR_036751 p.Tyr155Cys LB/B rs35489000 - CMC2 Q9NRP2 VAR_033816 p.Thr11Ser LB/B rs2303217 - CMKLR2 P46091 VAR_023839 p.Ile307Val LB/B rs3732083 - CMPK2 Q5EBM0 VAR_055997 p.Lys433Arg LB/B rs6712141 - CMSS1 Q9BQ75 VAR_033658 p.Val166Ile LB/B rs11537816 - CMSS1 Q9BQ75 VAR_047645 p.Glu138Gly LB/B rs11537817 - CMTM1 Q8IZ96 VAR_053039 p.Ser10Thr LB/B rs16956746 - CMTM2 Q8TAZ6 VAR_022154 p.Ile122Thr LB/B rs2290182 - CMTM6 Q9NX76 VAR_061998 p.Thr91Ala LB/B rs35574803 - CMTR2 Q8IYT2 VAR_039998 p.Leu60Phe LB/B rs3096380 - CMTR2 Q8IYT2 VAR_039999 p.Phe163Tyr LB/B rs17853360 - CMTR2 Q8IYT2 VAR_040000 p.Asn416Ser LB/B rs3803704 - CMTR2 Q8IYT2 VAR_040001 p.Thr608Lys LB/B rs3096381 - CMTR2 Q8IYT2 VAR_040002 p.Phe753Leu LB/B rs16970857 - CMYA5 Q8N3K9 VAR_042471 p.Tyr64Cys LB/B rs16877109 - CMYA5 Q8N3K9 VAR_042472 p.Gln175His LB/B rs6895605 - CMYA5 Q8N3K9 VAR_042473 p.Asp190Gly LB/B rs10942901 - CMYA5 Q8N3K9 VAR_042474 p.Gly349Asp LB/B rs1366271 - CMYA5 Q8N3K9 VAR_042475 p.Gly591Asp LB/B rs16877124 - CMYA5 Q8N3K9 VAR_042476 p.Val1006Ala LB/B rs6893869 - CMYA5 Q8N3K9 VAR_042477 p.Ala1295Val LB/B rs4704585 - CMYA5 Q8N3K9 VAR_042478 p.Ile1309Val LB/B rs16877133 - CMYA5 Q8N3K9 VAR_042479 p.Ala1333Val LB/B rs16877135 - CMYA5 Q8N3K9 VAR_042480 p.Ile1380Val LB/B rs13158477 - CMYA5 Q8N3K9 VAR_042481 p.Ala1567Glu LB/B rs1428223 - CMYA5 Q8N3K9 VAR_042482 p.Ser1599Ala LB/B rs1428224 - CMYA5 Q8N3K9 VAR_042483 p.Leu1669Ser LB/B rs1019762 - CMYA5 Q8N3K9 VAR_042484 p.Ile1713Asn LB/B rs16877141 - CMYA5 Q8N3K9 VAR_042485 p.Ile1721Val LB/B rs1428225 - CMYA5 Q8N3K9 VAR_042486 p.Ala1875Val LB/B rs16877147 - CMYA5 Q8N3K9 VAR_042487 p.Asp1917Gly LB/B rs16877150 - CMYA5 Q8N3K9 VAR_042488 p.Ser1920Gly LB/B rs16877151 - CMYA5 Q8N3K9 VAR_042489 p.Val2262Leu LB/B rs6859595 - CMYA5 Q8N3K9 VAR_042490 p.Lys2383Glu LB/B rs7721884 - CMYA5 Q8N3K9 VAR_042491 p.Thr2693Ile LB/B rs28362541 - CMYA5 Q8N3K9 VAR_042492 p.Lys2906Asn LB/B rs2278239 - CMYA5 Q8N3K9 VAR_042493 p.Gly2935Arg LB/B rs2278240 - CMYA5 Q8N3K9 VAR_042494 p.His3358Gln LB/B rs3828611 - CMYA5 Q8N3K9 VAR_042495 p.Lys3583Glu LB/B rs12514461 - CMYA5 Q8N3K9 VAR_042496 p.Arg3927Gln LB/B rs1129770 - CMYA5 Q8N3K9 VAR_042497 p.Pro4063Leu LB/B rs10043986 - CMYA5 Q8N3K9 VAR_061611 p.Ser651Arg LB/B rs57544556 - CNBD1 Q8NA66 VAR_032859 p.Asp64Asn LB/B rs10504829 - CNBD1 Q8NA66 VAR_032860 p.Gln69Lys LB/B rs16894901 - CNBD1 Q8NA66 VAR_061108 p.Met257Val LB/B rs60556175 - CNBD2 Q96M20 VAR_056853 p.Arg37His LB/B rs17347958 - CNBD2 Q96M20 VAR_056854 p.Thr208Ala LB/B rs6142471 - CNBD2 Q96M20 VAR_056855 p.Pro375Ser LB/B rs6060750 - CNDP1 Q96KN2 VAR_027147 p.Gly6Arg LB/B rs11151964 - CNDP1 Q96KN2 VAR_027149 p.Val113Ile LB/B rs4263028 - CNDP2 Q96KP4 VAR_057154 p.Tyr126His LB/B rs2278161 - CNGA1 P29973 VAR_009295 p.Arg28Gln LB/B rs76537883 - CNGA1 P29973 VAR_009296 p.Asp114Asn LB/B rs28642966 - CNGA1 P29973 VAR_009297 p.Ser316Phe LP/P rs62625014 Retinitis pigmentosa 49 (RP49) [MIM:613756] CNGA1 P29973 VAR_047385 p.Asn118Asp LB/B rs28642966 - CNGA2 Q16280 VAR_036603 p.Arg97His US rs561786347 A breast cancer sample CNGA2 Q16280 VAR_036604 p.Arg399Gln US rs150539917 A breast cancer sample CNGA2 Q16280 VAR_048748 p.Asp118His LB/B rs6627455 - CNGA2 Q16280 VAR_048749 p.Glu663Lys LB/B rs714147 - CNGA2 Q16280 VAR_061107 p.Trp139Leu LB/B rs35350051 - CNGA3 Q16281 VAR_010902 p.Thr153Met LB/B rs34314205 - CNGA3 Q16281 VAR_010903 p.Pro163Leu LP/P rs104893612 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_010904 p.Arg283Gln LP/P rs104893614 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_010905 p.Arg283Trp LP/P rs104893613 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_010906 p.Thr291Arg LP/P rs104893616 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_010907 p.Val529Met LP/P rs104893619 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_010908 p.Phe547Leu LP/P rs104893617 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_010909 p.Gly557Arg LP/P rs104893615 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_010910 p.Arg410Trp LP/P rs137852608 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_021963 p.Glu198Lys LB/B rs2271041 - CNGA3 Q16281 VAR_047565 p.Pro48Leu LB/B rs62156348 - CNGA3 Q16281 VAR_047566 p.Asp162Val LP/P rs747447519 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047567 p.Tyr181Cys LP/P - Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047568 p.Asn182Tyr LP/P - Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047569 p.Leu186Phe LP/P - Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047570 p.Cys191Tyr LP/P rs761554853 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047571 p.Glu194Lys LP/P - Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047572 p.Arg223Trp LP/P rs138958917 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047573 p.Thr224Arg LP/P - Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047574 p.Glu228Lys US rs147415641 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047575 p.Phe249Ser LP/P - Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047576 p.Asp260Asn LP/P rs374258471 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047577 p.Tyr263Asp LP/P rs943314733 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047578 p.Gly267Asp LP/P rs781673067 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047579 p.Arg277Cys LP/P rs104893620 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047580 p.Arg277His LP/P rs778114016 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047582 p.Ser341Pro LP/P rs1227761587 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047583 p.Thr369Ser LP/P rs766637612 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047584 p.Pro372Ser LP/P rs1464167194 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047585 p.Phe380Ser LP/P rs1692911763 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047586 p.Ser401Pro LP/P rs916035276 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047587 p.Met406Thr LP/P rs1553450734 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047588 p.Arg427Cys LP/P rs141386891 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047589 p.Arg436Trp LP/P rs104893621 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047590 p.Arg439Trp LP/P rs749842881 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047591 p.Ala469Thr LP/P rs117522010 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047592 p.Asn471Ser LP/P rs373954146 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047593 p.Asp485Val LP/P - Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047594 p.Cys510Ser LP/P rs908111816 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047595 p.Gly513Glu LP/P - Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047596 p.Gly516Glu LP/P - Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047597 p.Ile522Thr LP/P - Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047598 p.Gly525Asp LP/P - Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047599 p.Gly548Arg LP/P rs781227859 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047600 p.Arg563His LP/P rs552069173 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047601 p.Thr565Met LP/P rs201747279 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047602 p.Arg569His LP/P rs201782746 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047603 p.Tyr573Cys LP/P - Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047604 p.Glu590Lys LP/P rs763041373 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047605 p.Glu593Lys LP/P rs774676415 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_066860 p.Leu527Met US - - CNGA3 Q16281 VAR_069398 p.Trp335Cys LB/B - - CNGA3 Q16281 VAR_071435 p.Asn120Asp LB/B rs199859850 - CNGA3 Q16281 VAR_071436 p.Trp171Cys LP/P rs762773298 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_071438 p.Arg223Gln LP/P rs762668060 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_071439 p.Thr224Ile US - - CNGA3 Q16281 VAR_071440 p.Thr247Met LB/B rs148616345 - CNGA3 Q16281 VAR_071441 p.Pro258Arg US - - CNGA3 Q16281 VAR_071442 p.Arg274Lys LP/P - Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_071443 p.Leu278Pro LP/P rs763421555 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_071444 p.Phe322Ser LP/P - Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_071445 p.Phe330Ser US - - CNGA3 Q16281 VAR_071446 p.Ser334Phe US - - CNGA3 Q16281 VAR_071447 p.Arg436Gln LP/P rs767083685 Achromatopsia 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_071448 p.Asp533His LB/B rs775332304 - CNGA3 Q16281 VAR_071450 p.Ser570Asn US - - CNGA3 Q16281 VAR_071451 p.Arg646His LB/B rs141577844 - CNGA3 Q16281 VAR_075493 p.Ala323Asp LP/P - Achromatopsia 2 (ACHM2) [MIM:216900] CNGA4 Q8IV77 VAR_038480 p.Glu553Val LB/B rs325706 - CNGB1 Q14028 VAR_058691 p.Arg100His LB/B rs13336595 - CNGB1 Q14028 VAR_059225 p.Leu479Ile LB/B rs2303783 - CNGB1 Q14028 VAR_059226 p.Val535Ala LB/B rs12927214 - CNGB1 Q14028 VAR_059227 p.Asn731Lys LB/B rs376270 - CNGB1 Q14028 VAR_059228 p.Leu745Ile LB/B rs10459809 - CNGB1 Q14028 VAR_059229 p.Lys911Arg LB/B rs2303785 - CNGB1 Q14028 VAR_059230 p.Ala961Ser LB/B rs16942445 - CNGB1 Q14028 VAR_060491 p.Gly993Val LP/P rs121918532 Retinitis pigmentosa 45 (RP45) [MIM:613767] CNGB3 Q9NQW8 VAR_018109 p.Cys234Trp LB/B rs6471482 - CNGB3 Q9NQW8 VAR_018110 p.Thr298Pro LB/B rs4961206 - CNGB3 Q9NQW8 VAR_018111 p.Ser435Phe LP/P rs121918344 Achromatopsia 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_018112 p.Glu755Gly LB/B rs3735972 - CNGB3 Q9NQW8 VAR_024418 p.Ile307Val LB/B rs13265557 - CNGB3 Q9NQW8 VAR_025524 p.Arg203Gln LB/B rs16916632 - CNGB3 Q9NQW8 VAR_025525 p.Pro750Ser LB/B rs3735971 - CNGB3 Q9NQW8 VAR_047606 p.Arg25His LB/B rs141098074 - CNGB3 Q9NQW8 VAR_047607 p.Asn27Ser LB/B rs35807406 - CNGB3 Q9NQW8 VAR_047608 p.Gly107Arg US rs146688972 Achromatopsia 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047609 p.Lys148Glu LP/P rs369138501 Achromatopsia 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047610 p.Ser156Phe LP/P rs139207764 Achromatopsia 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047611 p.Glu199Lys US rs114305748 Achromatopsia 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047612 p.Pro309Leu LP/P rs1554612145 Achromatopsia 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047613 p.Arg403Gln US rs147876778 - CNGB3 Q9NQW8 VAR_047614 p.Met466Thr US rs35010099 Achromatopsia 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047615 p.Tyr469Asp LP/P rs35365413 Stargardt disease 1 (STGD1) [MIM:248200] CNGB3 Q9NQW8 VAR_047616 p.Asp494Asn US - Achromatopsia 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047617 p.Asp513Tyr US rs765884344 Achromatopsia 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047618 p.Phe525Asn LP/P - Achromatopsia 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047619 p.Gly558Cys LP/P rs749413012 Achromatopsia 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047620 p.Leu595Phe LP/P rs1554604849 Achromatopsia 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047621 p.Thr672Pro US - Achromatopsia 3 (ACHM3) [MIM:262300] CNIH4 Q9P003 VAR_048830 p.Ala3Gly LB/B rs12123896 - CNKSR1 Q969H4 VAR_057790 p.Arg662Trp LB/B rs17163640 - CNKSR2 Q8WXI2 VAR_035681 p.Arg46His US rs771705122 A colorectal cancer sample CNMD O75829 VAR_024413 p.Val175Ile LB/B rs7330220 - CNMD O75829 VAR_048719 p.Phe116Leu LB/B rs3742298 - CNNM1 Q9NRU3 VAR_057737 p.Arg819Gln LB/B rs2298316 - CNNM2 Q9H8M5 VAR_065259 p.Arg38Gln LB/B rs76057237 - CNNM2 Q9H8M5 VAR_065260 p.Thr568Ile LP/P rs387906975 Hypomagnesemia 6 (HOMG6) [MIM:613882] CNNM2 Q9H8M5 VAR_073848 p.Glu122Lys LP/P rs786205909 Hypomagnesemia, seizures, and impaired intellectual development 1 (HOMGSMR1) [MIM:616418] CNNM2 Q9H8M5 VAR_073849 p.Ser269Trp LP/P rs794726858 Hypomagnesemia, seizures, and impaired intellectual development 1 (HOMGSMR1) [MIM:616418] CNNM2 Q9H8M5 VAR_073850 p.Leu330Phe LP/P - Hypomagnesemia, seizures, and impaired intellectual development 1 (HOMGSMR1) [MIM:616418] CNNM2 Q9H8M5 VAR_073851 p.Glu357Lys LP/P rs786205910 Hypomagnesemia, seizures, and impaired intellectual development 1 (HOMGSMR1) [MIM:616418] CNNM4 Q6P4Q7 VAR_033365 p.Gly126Arg LB/B rs17855817 - CNNM4 Q6P4Q7 VAR_035946 p.Val134Leu US - A breast cancer sample CNNM4 Q6P4Q7 VAR_058319 p.Ser196Pro LP/P - Jalili syndrome (JALIS) [MIM:217080] CNNM4 Q6P4Q7 VAR_058320 p.Ser200Tyr LP/P rs79424354 Jalili syndrome (JALIS) [MIM:217080] CNNM4 Q6P4Q7 VAR_058321 p.Arg236Gln LP/P rs75267011 Jalili syndrome (JALIS) [MIM:217080] CNNM4 Q6P4Q7 VAR_058322 p.Leu324Pro LP/P rs74552543 Jalili syndrome (JALIS) [MIM:217080] CNOT1 A5YKK6 VAR_038254 p.Asp603Ala LB/B rs17854028 - CNOT1 A5YKK6 VAR_083066 p.Arg535Cys LP/P rs1567417422 Holoprosencephaly 12 with or without pancreatic agenesis (HPE12) [MIM:618500] CNOT1 A5YKK6 VAR_084314 p.Gln642Glu US - Vissers-Bodmer syndrome (VIBOS) [MIM:619033] CNOT1 A5YKK6 VAR_084315 p.Glu897Lys LP/P - Vissers-Bodmer syndrome (VIBOS) [MIM:619033] CNOT1 A5YKK6 VAR_084316 p.Arg900Cys LP/P - Vissers-Bodmer syndrome (VIBOS) [MIM:619033] CNOT1 A5YKK6 VAR_084317 p.Thr1038Ile US - Vissers-Bodmer syndrome (VIBOS) [MIM:619033] CNOT1 A5YKK6 VAR_084318 p.Val1089Leu US rs2040438229 Vissers-Bodmer syndrome (VIBOS) [MIM:619033] CNOT1 A5YKK6 VAR_084319 p.Leu1148Pro LP/P - Vissers-Bodmer syndrome (VIBOS) [MIM:619033] CNOT1 A5YKK6 VAR_084320 p.Asp1188Gly LP/P - Vissers-Bodmer syndrome (VIBOS) [MIM:619033] CNOT1 A5YKK6 VAR_084321 p.Lys1241Arg LP/P - Vissers-Bodmer syndrome (VIBOS) [MIM:619033] CNOT1 A5YKK6 VAR_084322 p.Thr1419Ala LP/P rs1038725612 Vissers-Bodmer syndrome (VIBOS) [MIM:619033] CNOT1 A5YKK6 VAR_084323 p.Phe1428Ser LP/P - Vissers-Bodmer syndrome (VIBOS) [MIM:619033] CNOT1 A5YKK6 VAR_084324 p.Arg1478Cys LP/P rs1567396193 Vissers-Bodmer syndrome (VIBOS) [MIM:619033] CNOT1 A5YKK6 VAR_084325 p.Gln1494His LP/P - Vissers-Bodmer syndrome (VIBOS) [MIM:619033] CNOT1 A5YKK6 VAR_084326 p.Tyr1572Asp LP/P - Vissers-Bodmer syndrome (VIBOS) [MIM:619033] CNOT1 A5YKK6 VAR_084327 p.Asn2216Ser LP/P rs1184460054 Vissers-Bodmer syndrome (VIBOS) [MIM:619033] CNOT10 Q9H9A5 VAR_037957 p.Pro736Ser LB/B rs17849684 - CNOT10 Q9H9A5 VAR_053982 p.Thr348Ser LB/B rs11558687 - CNOT2 Q9NZN8 VAR_048750 p.Ala460Thr LB/B rs11178192 - CNOT3 O75175 VAR_083405 p.Glu20Gln LP/P - Intellectual developmental disorder with speech delay, autism and dysmorphic facies (IDDSADF) [MIM:618672] CNOT3 O75175 VAR_083406 p.Leu48Val LP/P - Intellectual developmental disorder with speech delay, autism and dysmorphic facies (IDDSADF) [MIM:618672] CNOT3 O75175 VAR_083407 p.Lys119Glu US - Intellectual developmental disorder with speech delay, autism and dysmorphic facies (IDDSADF) [MIM:618672] CNOT3 O75175 VAR_083408 p.Glu147Lys US - Intellectual developmental disorder with speech delay, autism and dysmorphic facies (IDDSADF) [MIM:618672] CNOT3 O75175 VAR_083409 p.Arg188Cys LP/P - Intellectual developmental disorder with speech delay, autism and dysmorphic facies (IDDSADF) [MIM:618672] CNOT3 O75175 VAR_083410 p.Arg188His LP/P - Intellectual developmental disorder with speech delay, autism and dysmorphic facies (IDDSADF) [MIM:618672] CNOT3 O75175 VAR_083413 p.Arg697Gln US - Intellectual developmental disorder with speech delay, autism and dysmorphic facies (IDDSADF) [MIM:618672] CNOT4 O95628 VAR_027833 p.Ala7Gly LB/B rs17480616 - CNOT8 Q9UFF9 VAR_048751 p.Leu32Pro LB/B rs1139980 - CNOT9 Q92600 VAR_042429 p.Ile143Thr LB/B - - CNP P09543 VAR_033746 p.Gln207Arg LB/B rs34353668 - CNP P09543 VAR_085056 p.Ser82Leu US rs2050933471 Leukodystrophy, hypomyelinating, 20 (HLD20) [MIM:619071] CNPPD1 Q9BV87 VAR_022825 p.Ile262Thr LB/B rs1043160 - CNPPD1 Q9BV87 VAR_024298 p.Leu292Pro LB/B rs1127102 - CNPPD1 Q9BV87 VAR_024299 p.Pro366Leu LB/B rs17655123 - CNPPD1 Q9BV87 VAR_024300 p.Leu383Pro LB/B rs4674361 - CNPPD1 Q9BV87 VAR_056769 p.Arg344Thr LB/B rs1043161 - CNPY3 Q9BT09 VAR_037731 p.Met145Ile LB/B rs1063252 - CNPY3 Q9BT09 VAR_037732 p.Ser231Ile LB/B rs9471969 - CNPY3 Q9BT09 VAR_080491 p.Gly125Arg US rs1554292759 Developmental and epileptic encephalopathy 60 (DEE60) [MIM:617929] CNPY4 Q8N129 VAR_062216 p.Gly168Arg LB/B rs60551236 - CNR2 P34972 VAR_029209 p.His316Tyr LB/B rs2229579 - CNR2 P34972 VAR_054310 p.Gln63Arg LB/B rs2501432 - CNST Q6PJW8 VAR_032530 p.Ser28Asn LB/B rs35286882 - CNST Q6PJW8 VAR_032531 p.Leu87Ser LB/B rs6702823 - CNST Q6PJW8 VAR_032532 p.Arg399Cys LB/B rs12075111 - CNST Q6PJW8 VAR_056762 p.Gln183Arg LB/B rs12091148 - CNTD1 Q8N815 VAR_037708 p.Thr145Pro LB/B rs12947820 - CNTF P26441 VAR_013924 p.His182Arg LB/B rs6266 - CNTF P26441 VAR_033777 p.Asn49Ser LB/B rs17152779 - CNTLN Q9NXG0 VAR_025608 p.Arg562Cys LB/B rs3808782 - CNTLN Q9NXG0 VAR_025609 p.Thr695Ile LB/B rs7035276 - CNTLN Q9NXG0 VAR_025610 p.Thr1376Ala LB/B rs2499057 - CNTLN Q9NXG0 VAR_056840 p.Thr284Ala LB/B rs3808795 - CNTLN Q9NXG0 VAR_056841 p.Glu291Asp LB/B rs3808794 - CNTN1 Q12860 VAR_011722 p.Val798Leu LB/B rs1056020 - CNTN1 Q12860 VAR_035506 p.Pro794His US - A colorectal cancer sample CNTN1 Q12860 VAR_049866 p.Glu824Gly LB/B rs11553341 - CNTN2 Q02246 VAR_021918 p.Ala145Thr LB/B rs2275697 - CNTN2 Q02246 VAR_021919 p.Arg657Trp LB/B rs2305276 - CNTN2 Q02246 VAR_029129 p.Pro366Leu LB/B rs2229866 - CNTN2 Q02246 VAR_049867 p.Val1024Ile LB/B rs17416074 - CNTN3 Q9P232 VAR_019906 p.Ser630Asn LB/B rs626578 - CNTN3 Q9P232 VAR_056042 p.Asn708Ser LB/B rs626578 - CNTN4 Q8IWV2 VAR_035507 p.Thr176Pro US - A colorectal cancer sample CNTN4 Q8IWV2 VAR_035508 p.Lys420Asn US - A colorectal cancer sample CNTN5 O94779 VAR_019907 p.Ser23Ala LB/B rs10790978 - CNTN5 O94779 VAR_019908 p.Leu70Arg LB/B rs7125822 - CNTN5 O94779 VAR_019909 p.Asn81Ser LB/B rs10893933 - CNTN5 O94779 VAR_019910 p.Ile530Val LB/B rs11223168 - CNTN5 O94779 VAR_019911 p.Tyr1065Phe LB/B rs1944169 - CNTN5 O94779 VAR_019912 p.Ser1079Thr LB/B rs1216183 - CNTN5 O94779 VAR_033610 p.Met1094Val LB/B rs35208161 - CNTN6 Q9UQ52 VAR_019913 p.Ala440Ser LB/B rs265771 - CNTN6 Q9UQ52 VAR_033611 p.Phe150Ser LB/B rs6808056 - CNTN6 Q9UQ52 VAR_035509 p.Thr108Ala US - A breast cancer sample CNTN6 Q9UQ52 VAR_035510 p.Ser585Cys US - A breast cancer sample CNTN6 Q9UQ52 VAR_065744 p.Arg303Gln LB/B rs41293401 - CNTN6 Q9UQ52 VAR_065745 p.Phe314Val LB/B rs774763830 - CNTN6 Q9UQ52 VAR_065746 p.Glu954Val LB/B rs1447631177 - CNTNAP1 P78357 VAR_050267 p.Val522Leu LB/B rs35437096 - CNTNAP1 P78357 VAR_078818 p.Cys323Arg LP/P rs768554986 Lethal congenital contracture syndrome 7 (LCCS7) [MIM:616286] CNTNAP1 P78357 VAR_078819 p.Arg388Pro LP/P rs779027563 Neuropathy, congenital hypomyelinating, 3 (CHN3) [MIM:618186] CNTNAP1 P78357 VAR_078823 p.Arg764Cys LP/P rs761805324 Neuropathy, congenital hypomyelinating, 3 (CHN3) [MIM:618186] CNTNAP1 P78357 VAR_081766 p.Pro50Gln LP/P - Neuropathy, congenital hypomyelinating, 3 (CHN3) [MIM:618186] CNTNAP1 P78357 VAR_081767 p.Leu212Pro LP/P rs1567969825 Neuropathy, congenital hypomyelinating, 3 (CHN3) [MIM:618186] CNTNAP1 P78357 VAR_081770 p.Arg714Pro LP/P - Neuropathy, congenital hypomyelinating, 3 (CHN3) [MIM:618186] CNTNAP2 Q9UHC6 VAR_046227 p.Arg114Gln LB/B rs189731792 - CNTNAP2 Q9UHC6 VAR_046228 p.Thr218Met LB/B rs771028883 - CNTNAP2 Q9UHC6 VAR_046229 p.Leu226Met LB/B rs372345438 - CNTNAP2 Q9UHC6 VAR_046230 p.Arg283Cys LB/B rs794727802 - CNTNAP2 Q9UHC6 VAR_046231 p.Ser382Asn LB/B rs371839994 - CNTNAP2 Q9UHC6 VAR_046232 p.Asn407Ser LB/B rs143877693 - CNTNAP2 Q9UHC6 VAR_046233 p.Asn418Asp LB/B rs772179690 - CNTNAP2 Q9UHC6 VAR_046234 p.Glu680Lys LB/B rs368905425 - CNTNAP2 Q9UHC6 VAR_046235 p.Pro699Gln LB/B rs764412489 - CNTNAP2 Q9UHC6 VAR_046236 p.Tyr716Cys LB/B rs760930032 - CNTNAP2 Q9UHC6 VAR_046237 p.Gly731Ser LB/B rs369867547 - CNTNAP2 Q9UHC6 VAR_046238 p.Gly779Asp LB/B rs200413148 - CNTNAP2 Q9UHC6 VAR_046239 p.Ile869Thr LB/B rs121908445 - CNTNAP2 Q9UHC6 VAR_046240 p.Arg906His LB/B rs759801195 - CNTNAP2 Q9UHC6 VAR_046241 p.Asp1038Asn LB/B rs144003410 - CNTNAP2 Q9UHC6 VAR_046242 p.Val1102Ala LB/B rs111599875 - CNTNAP2 Q9UHC6 VAR_046243 p.Ser1114Gly LB/B rs983036503 - CNTNAP2 Q9UHC6 VAR_046244 p.Arg1119His LB/B rs774709566 - CNTNAP2 Q9UHC6 VAR_046245 p.Asp1129His LB/B rs781236853 - CNTNAP2 Q9UHC6 VAR_046246 p.Ala1227Thr LB/B rs761684414 - CNTNAP2 Q9UHC6 VAR_046247 p.Ile1253Thr LB/B rs767821521 - CNTNAP2 Q9UHC6 VAR_046248 p.Thr1278Ile LB/B rs760047247 - CNTNAP3 Q9BZ76 VAR_046710 p.Ala628Ser LB/B rs1758272 - CNTNAP3 Q9BZ76 VAR_046711 p.Arg845His LB/B rs7852039 - CNTNAP4 Q9C0A0 VAR_050268 p.Gln513His LB/B rs6564343 - CNTNAP4 Q9C0A0 VAR_050269 p.Asp1155Glu LB/B rs7202925 - CNTNAP4 Q9C0A0 VAR_050270 p.Asn1300Ser LB/B rs34198820 - CNTNAP4 Q9C0A0 VAR_061371 p.Leu276Val LB/B rs34251012 - CNTNAP4 Q9C0A0 VAR_061372 p.Gln786Arg LB/B rs12933808 - CNTNAP5 Q8WYK1 VAR_038518 p.Ser452Leu LB/B rs17727261 - CNTNAP5 Q8WYK1 VAR_038519 p.Thr1195Met LB/B rs34165507 - CNTRL Q7Z7A1 VAR_039559 p.Val56Ile LB/B rs10818503 - CNTRL Q7Z7A1 VAR_039560 p.Pro216Leu LB/B rs10818504 - CNTRL Q7Z7A1 VAR_039561 p.Ala889Thr LB/B rs17292952 - CNTRL Q7Z7A1 VAR_061622 p.Met1146Val LB/B rs35342437 - CNTROB Q8N137 VAR_024787 p.Pro578Gln LB/B rs11650083 - CNTROB Q8N137 VAR_050877 p.Arg439Gln LB/B rs35421969 - COA3 Q9Y2R0 VAR_084180 p.Tyr72Cys US - Mitochondrial complex IV deficiency, nuclear type 14 (MC4DN14) [MIM:619058] COA5 Q86WW8 VAR_065499 p.Ala53Pro LP/P rs387907099 Mitochondrial complex IV deficiency, nuclear type 9 (MC4DN9) [MIM:616500] COA6 Q5JTJ3 VAR_075046 p.Trp59Cys LP/P rs1558123786 Mitochondrial complex IV deficiency, nuclear type 13 (MC4DN13) [MIM:616501] COA6 Q5JTJ3 VAR_075047 p.Trp66Arg LP/P rs875989827 Mitochondrial complex IV deficiency, nuclear type 13 (MC4DN13) [MIM:616501] COA7 Q96BR5 VAR_031401 p.Lys219Arg LB/B rs443751 - COA7 Q96BR5 VAR_082218 p.Asp6Gly LP/P rs780572767 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 (SCAN3) [MIM:618387] COA7 Q96BR5 VAR_082219 p.Arg39Trp US rs768084335 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 (SCAN3) [MIM:618387] COA7 Q96BR5 VAR_082220 p.Tyr137Cys LP/P rs961876891 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 (SCAN3) [MIM:618387] COA7 Q96BR5 VAR_082221 p.Ser149Ile US rs1558102448 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 (SCAN3) [MIM:618387] COA8 Q96IL0 VAR_023000 p.Pro27Ala LB/B rs2274268 - COA8 Q96IL0 VAR_033745 p.Asn88Ser LB/B rs35960830 - COA8 Q96IL0 VAR_082030 p.Phe118Ser US rs587777786 Mitochondrial complex IV deficiency, nuclear type 17 (MC4DN17) [MIM:619061] COASY Q13057 VAR_030299 p.Ser55Tyr LB/B rs615942 - COASY Q13057 VAR_070975 p.Arg499Cys LP/P rs140709867 Neurodegeneration with brain iron accumulation 6 (NBIA6) [MIM:615643] COASY Q13057 VAR_082223 p.Ala214Val US - Neurodegeneration with brain iron accumulation 6 (NBIA6) [MIM:615643] COBL O75128 VAR_029043 p.Asp577Ala LB/B rs10230120 - COBL O75128 VAR_029044 p.Val607Ile LB/B rs2240090 - COBL O75128 VAR_029045 p.Asp927Asn LB/B rs17134128 - COBL O75128 VAR_029046 p.Ala1015Pro LB/B rs17134127 - COBL O75128 VAR_050894 p.Pro526Leu LB/B rs17656599 - COBL O75128 VAR_050895 p.His919Gln LB/B rs2240089 - COCH O43405 VAR_008532 p.Pro51Ser LP/P rs28938175 Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] COCH O43405 VAR_008533 p.Val66Gly LP/P rs121908927 Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] COCH O43405 VAR_008534 p.Gly88Glu LP/P rs121908928 Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] COCH O43405 VAR_008535 p.Ile109Asn LP/P rs121908930 Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] COCH O43405 VAR_008536 p.Trp117Arg LP/P rs121908929 Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] COCH O43405 VAR_011925 p.Thr352Ser LB/B rs1045644 - COCH O43405 VAR_011926 p.Pro532Ser LB/B rs1801963 - COCH O43405 VAR_017175 p.Ala119Thr LP/P rs121908931 Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] COCH O43405 VAR_022259 p.Gly135Arg LB/B rs28400035 - COCH O43405 VAR_022260 p.Asp281Asn LB/B rs28362775 - COCH O43405 VAR_022261 p.Ile402Val LB/B rs28362778 - COCH O43405 VAR_050896 p.Glu518Gly LB/B rs17097468 - COCH O43405 VAR_070034 p.Cys162Tyr LP/P - Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] COCH O43405 VAR_072249 p.Gly87Val LP/P - Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] COCH O43405 VAR_072250 p.Gly87Trp LP/P - Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] COCH O43405 VAR_072251 p.Ile109Thr LP/P rs121908930 Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] COCH O43405 VAR_072252 p.Met512Thr LP/P rs121908934 Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] COCH O43405 VAR_072253 p.Phe527Cys LP/P - Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] COCH O43405 VAR_072254 p.Cys542Tyr LP/P rs121908932 Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] COCH O43405 VAR_079876 p.Gly38Asp LP/P - Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] COG1 Q8WTW3 VAR_020415 p.Asn392Ser LB/B rs1026128 - COG1 Q8WTW3 VAR_048756 p.Tyr744Cys LB/B rs7208207 - COG1 Q8WTW3 VAR_059231 p.Met357Leu LB/B rs4375725 - COG2 Q14746 VAR_029274 p.Asn304Lys LB/B rs6681346 - COG2 Q14746 VAR_048757 p.Arg288His LB/B rs34796217 - COG2 Q14746 VAR_048758 p.Val589Ile LB/B rs34109129 - COG2 Q14746 VAR_078769 p.Trp634Gly LP/P rs1085307117 Congenital disorder of glycosylation 2Q (CDG2Q) [MIM:617395] COG3 Q96JB2 VAR_036454 p.Arg620Cys US rs747042102 A breast cancer sample COG3 Q96JB2 VAR_055663 p.Asn747Ser LB/B rs2274285 - COG4 Q9H9E3 VAR_058009 p.Thr158Ile LB/B rs3931036 - COG4 Q9H9E3 VAR_063767 p.Arg729Trp LP/P - Congenital disorder of glycosylation 2J (CDG2J) [MIM:613489] COG4 Q9H9E3 VAR_081564 p.Gly512Arg LP/P rs1555575860 Saul-Wilson syndrome (SWILS) [MIM:618150] COG5 Q9UP83 VAR_039142 p.Phe330Leu LB/B rs2269970 - COG5 Q9UP83 VAR_039143 p.Ser558Pro LB/B - - COG5 Q9UP83 VAR_039182 p.Ile365Val LB/B rs34087251 - COG5 Q9UP83 VAR_055664 p.His452Arg LB/B rs35393416 - COG6 Q9Y2V7 VAR_048759 p.Ala10Thr LB/B rs3812882 - COG6 Q9Y2V7 VAR_048760 p.Cys32Ser LB/B rs3812883 - COG6 Q9Y2V7 VAR_048761 p.His300Tyr LB/B rs34555836 - COG6 Q9Y2V7 VAR_061110 p.Met447Thr LB/B rs41286961 - COG6 Q9Y2V7 VAR_068240 p.Gly549Val LP/P rs387906959 Congenital disorder of glycosylation 2L (CDG2L) [MIM:614576] COG7 P83436 VAR_048762 p.Thr605Met LB/B rs16940094 - COG8 Q96MW5 VAR_047655 p.Leu517Arg LB/B rs3027 - COL10A1 Q03692 VAR_001838 p.Gly18Glu LP/P rs111033551 Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001839 p.Gly18Arg LP/P rs111033550 Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001840 p.Gly545Arg LB/B rs2228547 - COL10A1 Q03692 VAR_001841 p.Cys591Arg LP/P rs111033546 Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001842 p.Gly595Glu LP/P rs111033553 Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001843 p.Tyr597His LP/P - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001844 p.Tyr598Asp LP/P rs111033544 Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001845 p.Ser600Pro LP/P rs111033555 Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001846 p.Leu614Pro LP/P rs111033545 Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001847 p.Asn617Lys LP/P - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001848 p.Gly618Val LP/P - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001849 p.Leu644Arg LP/P - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001850 p.Asp648Gly LP/P - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_008039 p.Tyr597Cys LP/P rs111033554 Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_023186 p.Met27Thr LB/B rs1064583 - COL10A1 Q03692 VAR_023187 p.Arg198His LB/B rs148785195 - COL10A1 Q03692 VAR_023188 p.Tyr582Asp LP/P - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_023189 p.Gly595Arg LP/P - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_023190 p.Val603Met LB/B rs143769451 - COL10A1 Q03692 VAR_023191 p.Trp651Arg LP/P rs111033549 Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_023192 p.Gln653Pro LP/P rs1271742789 Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_023193 p.Ser671Pro LP/P rs111033552 Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_048767 p.Gly98Arg LB/B rs2243370 - COL11A1 P12107 VAR_013583 p.Gly625Val LP/P rs121912943 Stickler syndrome 2 (STL2) [MIM:604841] COL11A1 P12107 VAR_013584 p.Gly676Arg LP/P rs749663226 Stickler syndrome 2 (STL2) [MIM:604841] COL11A1 P12107 VAR_013587 p.Gly1516Val LP/P rs1553193910 Stickler syndrome 2 (STL2) [MIM:604841] COL11A1 P12107 VAR_035743 p.Ala1326Val US - A breast cancer sample COL11A1 P12107 VAR_035744 p.Gln1328Lys US rs750014974 A breast cancer sample COL11A1 P12107 VAR_035745 p.Gln1328Leu US - A breast cancer sample COL11A1 P12107 VAR_047723 p.Trp8Gly LB/B rs12025888 - COL11A1 P12107 VAR_047724 p.Asp46Glu LB/B rs11164663 - COL11A1 P12107 VAR_047725 p.Gly559Ser LB/B rs12143815 - COL11A1 P12107 VAR_047726 p.Pro1323Leu LB/B rs3753841 - COL11A1 P12107 VAR_047727 p.Ser1535Pro LB/B rs1676486 - COL11A1 P12107 VAR_047728 p.Leu1805Phe LB/B rs1975916 - COL11A1 P12107 VAR_063675 p.Gly565Val LP/P - Stickler syndrome 2 (STL2) [MIM:604841] COL11A1 P12107 VAR_063676 p.Gly1027Arg LP/P - Stickler syndrome 2 (STL2) [MIM:604841] COL11A1 P12107 VAR_063678 p.Gly1513Asp LP/P rs1553193913 Stickler syndrome 2 (STL2) [MIM:604841] COL11A1 P12107 VAR_065904 p.Gly796Arg LP/P - Fibrochondrogenesis 1 (FBCG1) [MIM:228520] COL11A1 P12107 VAR_065905 p.Gly1042Arg LP/P - Fibrochondrogenesis 1 (FBCG1) [MIM:228520] COL11A2 P13942 VAR_001907 p.Gly661Arg LP/P rs121912945 Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB) [MIM:215150] COL11A2 P13942 VAR_010655 p.Gly808Glu LP/P rs121912948 Deafness, autosomal dominant, 13 (DFNA13) [MIM:601868] COL11A2 P13942 VAR_010656 p.Arg1034Cys LP/P rs121912947 Deafness, autosomal dominant, 13 (DFNA13) [MIM:601868] COL11A2 P13942 VAR_013591 p.Asp593Gly LB/B - - COL11A2 P13942 VAR_013592 p.Glu824Lys LB/B rs1799909 - COL11A2 P13942 VAR_013593 p.Pro879Leu LB/B rs747883362 - COL11A2 P13942 VAR_013595 p.Gly1441Glu LP/P rs121912946 Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA) [MIM:184840] COL11A2 P13942 VAR_013596 p.Pro1316Thr LB/B rs2229784 - COL11A2 P13942 VAR_013597 p.Arg1600Gln LB/B rs1799912 - COL11A2 P13942 VAR_025276 p.Pro621Thr LP/P rs121912952 Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706] COL11A2 P13942 VAR_033797 p.Glu1628Asp LB/B rs2229790 - COL11A2 P13942 VAR_048804 p.Pro236Ser LB/B rs35116188 - COL11A2 P13942 VAR_048805 p.Glu276Lys LB/B rs9277934 - COL11A2 P13942 VAR_048806 p.Leu894Pro LB/B rs2855430 - COL11A2 P13942 VAR_048807 p.Pro1722Leu LB/B rs2229792 - COL11A2 P13942 VAR_072731 p.Ala37Ser LP/P rs606231410 Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706] COL11A2 P13942 VAR_072732 p.Pro888Thr LP/P rs864309523 Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706] COL11A2 P13942 VAR_079875 p.Pro1422Leu LB/B rs555936333 - COL12A1 Q99715 VAR_048768 p.Ala461Pro LB/B rs34730529 - COL12A1 Q99715 VAR_048769 p.Ile1738Thr LB/B rs240736 - COL12A1 Q99715 VAR_048770 p.Glu2160Val LB/B rs35523808 - COL12A1 Q99715 VAR_048771 p.Ile2596Val LB/B rs35710072 - COL12A1 Q99715 VAR_061111 p.Arg2021Gln LB/B rs34438461 - COL12A1 Q99715 VAR_061112 p.Gln3048His LB/B rs57396313 - COL12A1 Q99715 VAR_074546 p.Arg1965Cys US rs200487396 Bethlem myopathy 2 (BTHLM2) [MIM:616471] COL12A1 Q99715 VAR_074547 p.Ile2334Thr LP/P rs796052093 Bethlem myopathy 2 (BTHLM2) [MIM:616471] COL12A1 Q99715 VAR_074548 p.Gly2786Asp LP/P rs796052094 Bethlem myopathy 2 (BTHLM2) [MIM:616471] COL12A1 Q99715 VAR_074549 p.Gly3058Ser LB/B rs970547 - COL13A1 Q5TAT6 VAR_055670 p.His531Gln LB/B rs1061954 - COL14A1 Q05707 VAR_048772 p.Asn563His LB/B rs4870723 - COL14A1 Q05707 VAR_048773 p.Pro855Leu LB/B rs2305606 - COL14A1 Q05707 VAR_048774 p.Val922Ile LB/B rs11774228 - COL14A1 Q05707 VAR_048775 p.Val1342Leu LB/B rs17833992 - COL14A1 Q05707 VAR_061113 p.Thr636Ala LB/B rs56815167 - COL15A1 P39059 VAR_033787 p.Arg163His LB/B rs2075662 - COL15A1 P39059 VAR_033788 p.Met204Val LB/B rs2075663 - COL15A1 P39059 VAR_033789 p.Thr391Met LB/B rs10988532 - COL15A1 P39059 VAR_033790 p.Ala442Thr LB/B rs16918128 - COL15A1 P39059 VAR_033791 p.Gly446Arg LB/B rs35934703 - COL15A1 P39059 VAR_033792 p.Glu506Asp LB/B rs35250850 - COL15A1 P39059 VAR_033793 p.Pro531Arg LB/B rs35529307 - COL15A1 P39059 VAR_033794 p.Lys989Arg LB/B rs35642150 - COL15A1 P39059 VAR_033795 p.Lys1001Arg LB/B rs35544077 - COL15A1 P39059 VAR_033796 p.Val1332Ile LB/B rs10519 - COL15A1 P39059 VAR_048776 p.Gly504Val LB/B rs2297603 - COL15A1 P39059 VAR_061114 p.Pro705Leu LB/B rs41308900 - COL16A1 Q07092 VAR_031440 p.Thr62Lys LB/B rs2228552 - COL16A1 Q07092 VAR_048778 p.Arg418Gln LB/B rs6699645 - COL16A1 Q07092 VAR_048779 p.Gly745Ser LB/B rs34770879 - COL17A1 Q9UMD9 VAR_017593 p.Thr210Met LB/B rs805708 - COL17A1 Q9UMD9 VAR_017594 p.Met231Ile LB/B rs1054113 - COL17A1 Q9UMD9 VAR_017595 p.Met238Thr LB/B - - COL17A1 Q9UMD9 VAR_017596 p.Ser265Cys LP/P - Epidermolysis bullosa, junctional 4, intermediate (JEB4) [MIM:619787] COL17A1 Q9UMD9 VAR_017597 p.Gly428Ser LB/B rs805698 - COL17A1 Q9UMD9 VAR_017598 p.Gly627Val LP/P - Epidermolysis bullosa, junctional 4, intermediate (JEB4) [MIM:619787] COL17A1 Q9UMD9 VAR_017599 p.Gly633Asp LP/P rs121912773 Epidermolysis bullosa, junctional 4, intermediate (JEB4) [MIM:619787] COL17A1 Q9UMD9 VAR_017600 p.Met703Val LB/B rs805722 - COL17A1 Q9UMD9 VAR_017601 p.Arg1303Gln LP/P rs121912771 Epidermolysis bullosa, junctional 4, intermediate (JEB4) [MIM:619787] COL17A1 Q9UMD9 VAR_017602 p.Asp1370Gly LB/B rs17116350 - COL17A1 Q9UMD9 VAR_048781 p.Thr4Ala LB/B rs17116471 - COL17A1 Q9UMD9 VAR_074627 p.Thr939Ile LP/P rs797045142 Epithelial recurrent erosion dystrophy (ERED) [MIM:122400] COL18A1 P39060 VAR_012709 p.Asp1675Asn LB/B rs12483377 - COL18A1 P39060 VAR_018053 p.Gln49Leu LB/B rs61735029 - COL18A1 P39060 VAR_018054 p.Gly111Arg LB/B rs114139997 - COL18A1 P39060 VAR_018055 p.Val1076Ile LB/B rs62000962 - COL18A1 P39060 VAR_018056 p.Pro1121Arg LB/B rs79980197 - COL18A1 P39060 VAR_059232 p.Ala288Thr LB/B rs11702494 - COL18A1 P39060 VAR_059233 p.Gln1195His LB/B rs2230693 - COL18A1 P39060 VAR_061115 p.Thr379Met LB/B rs8133886 - COL18A1 P39060 VAR_084282 p.Glu184Lys US rs749957649 Glaucoma, primary closed-angle (GLCC) [MIM:618880] COL19A1 Q14993 VAR_024419 p.Ala352Gly LB/B rs2273426 - COL19A1 Q14993 VAR_035746 p.Gly361Asp US rs1313704586 A breast cancer sample COL19A1 Q14993 VAR_035747 p.Lys1019Asn US rs771562232 A breast cancer sample COL19A1 Q14993 VAR_048782 p.Gly406Glu LB/B rs13204209 - COL19A1 Q14993 VAR_048783 p.Glu496Gly LB/B rs13204209 - COL1A1 P02452 VAR_001642 p.Gly197Cys LB/B rs8179178 - COL1A1 P02452 VAR_001643 p.Pro205Ala LB/B rs72667032 - COL1A1 P02452 VAR_001644 p.Gly221Cys LP/P rs72667037 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_001645 p.Gly224Cys LP/P rs72667038 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_001646 p.Gly263Arg LP/P rs72645323 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_001647 p.Gly263Val LP/P rs72645324 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_001648 p.Gly272Cys LP/P rs72645331 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_001649 p.Gly275Asp LP/P rs72645333 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001650 p.Gly332Arg LP/P rs72645357 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001651 p.Gly350Arg LP/P rs72645363 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001652 p.Gly353Cys LP/P rs66721653 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001653 p.Gly356Cys LP/P rs72645365 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001654 p.Gly383Cys LP/P rs67182491 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001654 p.Gly383Cys LP/P rs67182491 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001654 p.Gly383Cys LP/P rs67182491 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001655 p.Gly389Cys LB/B rs66548636 - COL1A1 P02452 VAR_001656 p.Gly389Arg LP/P rs66548636 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001657 p.Gly398Ala LP/P rs66501246 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001658 p.Gly398Asp LP/P rs66501246 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001660 p.Gly404Cys LB/B rs66893386 - COL1A1 P02452 VAR_001661 p.Gly422Cys LP/P rs72648328 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001662 p.Gly425Ser LP/P rs72648330 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001663 p.Gly434Val LP/P rs72648333 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001664 p.Gly476Arg LP/P rs57377812 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001665 p.Gly527Cys LP/P rs72648353 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001666 p.Gly530Ser LP/P rs67682641 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001666 p.Gly530Ser LP/P rs67682641 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001666 p.Gly530Ser LP/P rs67682641 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001667 p.Gly533Asp LP/P rs72648356 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001668 p.Gly560Ser LP/P rs67507747 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001669 p.Gly560Cys LP/P rs67507747 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001670 p.Gly560Arg LP/P rs67507747 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001671 p.Arg564His LB/B rs1800211 - COL1A1 P02452 VAR_001672 p.Gly569Arg LP/P rs72648363 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001673 p.Gly593Cys LP/P rs66527965 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001673 p.Gly593Cys LP/P rs66527965 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001674 p.Gly593Ser LP/P rs66527965 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001674 p.Gly593Ser LP/P rs66527965 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001676 p.Gly656Ser LP/P rs72651629 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001677 p.Gly701Cys LP/P rs68114505 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001678 p.Gly704Cys LP/P rs67368147 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001679 p.Gly719Asp LP/P rs72651646 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001680 p.Gly719Ser LP/P rs72651645 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001681 p.Gly728Arg LP/P rs72651648 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001682 p.Gly737Asp LP/P rs72651651 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001683 p.Gly743Ser LP/P rs72651652 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001684 p.Gly743Val LP/P rs72651653 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001685 p.Gly764Val LP/P rs72651657 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001686 p.Gly767Ser LP/P rs72651658 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001687 p.Gly776Ser LP/P rs72651660 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001688 p.Gly809Ser LP/P rs72651663 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001689 p.Gly815Val LP/P rs66929517 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001690 p.Gly821Ser LP/P rs67693970 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001691 p.Pro823Ala LB/B rs1800214 - COL1A1 P02452 VAR_001692 p.Gly839Ser LP/P rs72653131 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001693 p.Gly842Arg LP/P rs72653134 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001694 p.Gly845Arg LP/P rs72653136 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001695 p.Gly851Asp LP/P rs72653137 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001696 p.Gly869Cys LP/P rs72653143 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001697 p.Gly884Ser LP/P rs1567755602 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001697 p.Gly884Ser LP/P rs1567755602 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001698 p.Gly896Cys LP/P rs72653152 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001699 p.Gly926Cys LP/P rs72653154 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001700 p.Gly980Val LP/P rs72653166 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001701 p.Gly1010Ser LP/P rs72653169 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001702 p.Gly1022Ser LP/P rs66523073 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001703 p.Gly1022Val LP/P rs67771061 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001704 p.Gly1025Arg LP/P rs72653172 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001705 p.Gly1040Ser LP/P rs72653178 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001705 p.Gly1040Ser LP/P rs72653178 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001708 p.Gly1049Ser LP/P rs67641695 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001709 p.Gly1058Ser LP/P rs72654795 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001709 p.Gly1058Ser LP/P rs72654795 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001710 p.Gly1061Asp LP/P rs72654797 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001711 p.Gly1061Ser LP/P rs72654796 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001712 p.Ala1075Thr LB/B rs1800215 - COL1A1 P02452 VAR_001713 p.Gly1076Ser LP/P rs67394386 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001714 p.Gly1079Ser LP/P rs72654802 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_001714 p.Gly1079Ser LP/P rs72654802 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001715 p.Gly1082Cys LP/P rs72656303 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001716 p.Gly1088Ala LP/P rs72656305 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001717 p.Gly1091Ser LP/P rs72656306 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001718 p.Gly1100Asp LP/P rs72656308 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001719 p.Gly1106Ala LP/P rs72656311 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001720 p.Gly1124Cys LP/P rs72656312 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001721 p.Gly1142Ser LP/P rs72656317 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001722 p.Gly1151Ser LP/P rs72656320 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001723 p.Gly1151Val LP/P rs72656321 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001724 p.Gly1154Arg LP/P rs72656322 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001725 p.Gly1166Cys LP/P rs72656324 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001726 p.Gly1172Asp LP/P rs72656325 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001727 p.Gly1181Ser LP/P rs72656330 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001728 p.Gly1184Val LP/P rs72656331 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001729 p.Gly1187Ser LP/P rs72656332 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001729 p.Gly1187Ser LP/P rs72656332 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001730 p.Gly1187Val LP/P rs66948146 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001731 p.Gly1195Cys LP/P rs72656334 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_001732 p.Asp1277His LP/P rs72656342 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001733 p.Trp1312Cys LP/P rs72656343 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001735 p.Leu1388Arg LP/P rs72656348 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001736 p.Thr1434Ser LB/B rs1800220 - COL1A1 P02452 VAR_001737 p.Leu1464Pro LP/P rs72656353 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_008118 p.Gly866Ser LP/P rs67445413 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_008118 p.Gly866Ser LP/P rs67445413 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_013579 p.Arg312Cys LP/P rs72645347 Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000] COL1A1 P02452 VAR_030013 p.Gly1019Ala LB/B rs1135348 - COL1A1 P02452 VAR_030014 p.Ser1251Thr LB/B rs3205325 - COL1A1 P02452 VAR_030015 p.Gln1391Lys LB/B rs2586486 - COL1A1 P02452 VAR_030016 p.Pro1438Arg LB/B rs17857117 - COL1A1 P02452 VAR_030017 p.Pro1460His LB/B rs17853657 - COL1A1 P02452 VAR_033097 p.Arg1014Cys LP/P rs72653170 Caffey disease (CAFYD) [MIM:114000] COL1A1 P02452 VAR_033778 p.Arg1141Gln LB/B rs41316713 - COL1A1 P02452 VAR_033779 p.Val1177Ile LB/B rs41316719 - COL1A1 P02452 VAR_033780 p.Lys1430Asn LB/B rs1059454 - COL1A1 P02452 VAR_033781 p.Thr1431Pro LB/B rs1059454 - COL1A1 P02452 VAR_063290 p.Gly22Arg LP/P rs72667007 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063291 p.Pro146Thr US rs756846639 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063292 p.Gly194Arg LP/P rs72667024 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063293 p.Gly197Arg LP/P - Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_063294 p.Gly200Val LP/P rs72667029 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063295 p.Gly203Val LP/P rs72667031 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 (OIEDS1) [MIM:619115] COL1A1 P02452 VAR_063295 p.Gly203Val LP/P rs72667031 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_063296 p.Gly242Asp LB/B rs72645315 - COL1A1 P02452 VAR_063297 p.Gly257Arg LP/P rs72645321 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_063298 p.Gly266Glu LP/P rs72645325 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 (OIEDS1) [MIM:619115] COL1A1 P02452 VAR_063298 p.Gly266Glu LP/P rs72645325 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063299 p.Gly287Ser LP/P rs72645340 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063300 p.Glu288Lys US rs72645341 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063301 p.Glu288Val US - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063302 p.Gly320Val LP/P rs72645353 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063303 p.Gly338Cys LP/P rs66664580 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_063304 p.Val349Phe LP/P rs72645362 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063305 p.Gly353Asp LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063306 p.Gly353Ser LP/P rs66721653 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_063307 p.Gly368Val LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063308 p.Ala390Thr US rs116794104 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063309 p.Gly455Asp LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063310 p.Gly470Val LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063311 p.Gly509Val LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063312 p.Gly548Ala LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063313 p.Pro555Arg LP/P rs72648359 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063314 p.Arg574Cys US rs72648365 - COL1A1 P02452 VAR_063315 p.Gly581Arg LP/P rs72648366 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063316 p.Gly602Arg LP/P rs72651615 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063317 p.Gly605Asp LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063318 p.Gly614Arg LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063319 p.Gly647Ser LP/P rs72651627 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063320 p.Gly683Ser LP/P rs72651636 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_063321 p.Gly722Ser LP/P rs72651647 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063322 p.Gly734Val LP/P rs72651649 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063323 p.Gly740Arg LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063324 p.Gly824Arg LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063325 p.Gly833Asp LP/P rs67067133 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063326 p.Asn855His US - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063327 p.Gly875Ser LP/P rs72653145 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063328 p.Gly896Asp LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063329 p.Gly906Ser US rs145446512 - COL1A1 P02452 VAR_063330 p.Gly947Cys LP/P rs72653159 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063331 p.Gly977Asp LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063332 p.Gly1001Cys LP/P rs72653167 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063334 p.Gly1055Asp LP/P rs1906761196 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063335 p.Arg1066Cys LP/P rs72654799 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 (OIEDS1) [MIM:619115] COL1A1 P02452 VAR_063336 p.Arg1093Cys US rs72656307 - COL1A1 P02452 VAR_063337 p.Gly1094Ser LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063338 p.Gly1157Asp LP/P rs72656323 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063339 p.Asp1219Glu LP/P rs72656339 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063340 p.Arg1356His LB/B rs149820303 - COL1A1 P02452 VAR_063341 p.Asp1413Asn LP/P rs72656349 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063342 p.Gly848Arg LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_066385 p.Asp1219Asn LB/B rs72656338 - COL1A1 P02452 VAR_074158 p.Gly773Cys LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_074159 p.Gly1088Glu US - Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_085148 p.Gly188Asp LP/P rs1114167408 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 (OIEDS1) [MIM:619115] COL1A1 P02452 VAR_085149 p.Gly191Asp LP/P rs67828806 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 (OIEDS1) [MIM:619115] COL1A1 P02452 VAR_085150 p.Gly203Cys LP/P - Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 (OIEDS1) [MIM:619115] COL1A1 P02452 VAR_085151 p.Gly212Arg LP/P rs72667034 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 (OIEDS1) [MIM:619115] COL1A1 P02452 VAR_085152 p.Gly254Glu LP/P rs72645320 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 (OIEDS1) [MIM:619115] COL1A2 P08123 VAR_001852 p.Gly211Asp LP/P rs72656378 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A2 P08123 VAR_001853 p.Ile249Asn LB/B rs1800228 - COL1A2 P08123 VAR_001854 p.Ala276Thr LB/B rs1800231 - COL1A2 P08123 VAR_001855 p.Gly328Ser LP/P rs66612022 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A2 P08123 VAR_001855 p.Gly328Ser LP/P rs66612022 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001855 p.Gly328Ser LP/P rs66612022 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_001857 p.Gly337Cys LP/P rs67865220 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001858 p.Gly337Ser LP/P rs67865220 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001860 p.Gly349Cys LP/P rs66773001 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001861 p.Gly409Val LP/P rs72658109 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001862 p.Gly433Glu LP/P rs72658114 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001863 p.Gly460Ser LP/P rs72658118 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001864 p.Gly511Asp LP/P rs66999265 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001865 p.Gly517Arg LP/P rs72658126 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001866 p.Gly547Arg LP/P rs72658136 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001867 p.Pro549Ala LB/B rs42524 - COL1A2 P08123 VAR_001868 p.Gly562Cys LP/P rs72658138 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001869 p.Gly586Arg LP/P rs72658139 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001870 p.Gly592Ser LP/P rs72658141 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001871 p.Gly634Val LP/P rs72658147 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_001872 p.Gly637Asp LP/P rs72658148 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001874 p.Gly670Asp LP/P rs72658155 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001875 p.Gly676Val LP/P rs66883877 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001875 p.Gly676Val LP/P rs66883877 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_001876 p.Arg708Gln US rs72658163 - COL1A2 P08123 VAR_001877 p.Gly715Asp LP/P rs72658167 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001878 p.Gly730Cys LP/P rs72658171 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001879 p.Gly736Cys LP/P rs72658173 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A2 P08123 VAR_001880 p.Ala743Gly LB/B rs408535 - COL1A2 P08123 VAR_001881 p.Gly751Ser LP/P rs72658176 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_001882 p.Gly754Arg LP/P - Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001883 p.Gly766Val LP/P rs72658183 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_001884 p.Gly778Ser LP/P rs72658186 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001885 p.Gly784Arg LP/P rs66592844 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001886 p.Gly787Cys LP/P rs72658187 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001887 p.Gly790Asp LP/P rs72658188 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001888 p.Gly796Ser LP/P rs66716547 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001889 p.Arg822His LB/B rs1800240 - COL1A2 P08123 VAR_001890 p.Gly835Ser LP/P rs72658193 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A2 P08123 VAR_001891 p.Gly877Cys LP/P rs72658201 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001892 p.Gly892Asp LP/P rs72659304 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001892 p.Gly892Asp LP/P rs72659304 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_001893 p.Gly895Asp LP/P rs72659305 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001894 p.Gly949Ser LP/P rs72659312 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001895 p.Gly955Ser LP/P rs66507857 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001896 p.Gly997Asp LP/P rs72659317 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001897 p.Gly1012Ser LP/P rs72659319 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001897 p.Gly1012Ser LP/P rs72659319 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_001898 p.Leu1022Phe LB/B rs392609 - COL1A2 P08123 VAR_001899 p.Gly1066Asp LP/P rs72659331 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001900 p.Gly1078Cys LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001901 p.Gly1096Ala LP/P rs72659337 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001902 p.Gly1102Arg LP/P rs67768540 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_001903 p.Pro1101Leu LB/B - - COL1A2 P08123 VAR_001904 p.Thr1148Pro LP/P rs1800250 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001905 p.Asp1189Glu LB/B rs422361 - COL1A2 P08123 VAR_001906 p.Ser1198Pro LB/B rs384487 - COL1A2 P08123 VAR_008119 p.Gly331Asp LP/P rs67729041 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_008120 p.Gly973Val LP/P rs67609234 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_030116 p.Thr59Pro LB/B rs1800221 - COL1A2 P08123 VAR_030118 p.Val270Ile LB/B rs368468 - COL1A2 P08123 VAR_030119 p.Ala483Val LB/B rs414408 - COL1A2 P08123 VAR_030121 p.Pro678His LB/B rs409108 - COL1A2 P08123 VAR_030122 p.Gln1354His LB/B rs418570 - COL1A2 P08123 VAR_033040 p.Asn528Ser LB/B rs41317144 - COL1A2 P08123 VAR_033041 p.Ala564Thr LB/B rs41317153 - COL1A2 P08123 VAR_055677 p.Leu344Val LB/B rs16868573 - COL1A2 P08123 VAR_063343 p.Gly193Ser LP/P rs72656370 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_063344 p.Gly202Arg LP/P rs72656376 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_063345 p.Arg234Cys LP/P rs1206388800 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063346 p.Gly247Arg LP/P - Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A2 P08123 VAR_063347 p.Gly253Asp LP/P rs72656385 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063348 p.Gly256Val LP/P rs67525025 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_063349 p.Gly283Arg LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063350 p.Gly319Arg LP/P rs72656393 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A2 P08123 VAR_063351 p.Gly325Glu LP/P rs72656395 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_063352 p.Gly358Ser LP/P rs66619856 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_063353 p.Gly397Glu LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063354 p.Gly454Cys LP/P rs72658117 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063355 p.Gly457Leu LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063357 p.Gly526Glu LP/P rs72658130 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063358 p.Gly562Val LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063359 p.Gly601Ser LB/B rs72658143 - COL1A2 P08123 VAR_063360 p.Gly625Asp LP/P rs72658145 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063361 p.Gly676Asp LP/P rs66883877 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_063363 p.Gly733Cys LP/P rs72658172 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A2 P08123 VAR_063364 p.Gly739Arg LP/P rs72658174 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063365 p.Gly748Val LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063366 p.Gly754Cys LP/P rs72658177 Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_063370 p.Gly820Ser LP/P rs72658191 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_063371 p.Gly835Cys LP/P - Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_063372 p.Gly856Arg LP/P - Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_063373 p.Gly856Val LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063374 p.Gly955Asp LP/P - Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063375 p.Gly982Asp LP/P rs67422093 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063377 p.Gly991Val LP/P rs72659316 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_063378 p.Gly1003Asp LP/P rs1114167414 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063379 p.Gly1027Glu LP/P rs72659323 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063381 p.Gly1087Asp LP/P rs72659335 Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063381 p.Gly1087Asp LP/P rs72659335 Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_063383 p.Cys1195Tyr LP/P rs72659342 Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A2 P08123 VAR_066386 p.Ala1119Thr US - - COL1A2 P08123 VAR_069633 p.Arg1067His LB/B rs530026906 - COL1A2 P08123 VAR_085153 p.Gly109Asp LP/P rs1114167416 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 (OIEDS2) [MIM:619120] COL1A2 P08123 VAR_085154 p.Gly196Val LP/P - Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 (OIEDS2) [MIM:619120] COL20A1 Q9P218 VAR_055671 p.Pro134Leu LB/B rs753686 - COL21A1 Q96P44 VAR_038555 p.Leu277Pro LB/B rs2764043 - COL21A1 Q96P44 VAR_038556 p.Thr343Met LB/B rs35471617 - COL21A1 Q96P44 VAR_038557 p.Ile495Thr LB/B rs35583895 - COL21A1 Q96P44 VAR_038558 p.Gly560Ser LB/B rs9382581 - COL21A1 Q96P44 VAR_038559 p.Ala747Asp LB/B rs9464337 - COL21A1 Q96P44 VAR_038560 p.Leu821Pro LB/B rs12209452 - COL21A1 Q96P44 VAR_038561 p.Pro827Ala LB/B rs1555131 - COL22A1 Q8NFW1 VAR_038562 p.Ser320Gly LB/B rs2292927 - COL22A1 Q8NFW1 VAR_038563 p.Pro703Thr LB/B rs10111520 - COL22A1 Q8NFW1 VAR_038564 p.Ala938Asp LB/B rs4909444 - COL23A1 Q86Y22 VAR_026964 p.Thr287Ala LB/B rs890802 - COL24A1 Q17RW2 VAR_038565 p.Gly1423Arg LB/B rs7520146 - COL24A1 Q17RW2 VAR_055672 p.Pro151Leu LB/B rs1027819 - COL24A1 Q17RW2 VAR_055673 p.Ile293Thr LB/B rs17128866 - COL24A1 Q17RW2 VAR_055674 p.Met481Leu LB/B rs10493784 - COL24A1 Q17RW2 VAR_055675 p.Pro546Ser LB/B rs11161732 - COL24A1 Q17RW2 VAR_055676 p.Pro731Ser LB/B rs641712 - COL24A1 Q17RW2 VAR_061116 p.Arg641His LB/B rs60891279 - COL24A1 Q17RW2 VAR_062865 p.Ala61Val LB/B rs11161747 - COL25A1 Q9BXS0 VAR_073325 p.Gly382Arg LP/P rs780209390 Fibrosis of extraocular muscles, congenital, 5 (CFEOM5) [MIM:616219] COL26A1 Q96A83 VAR_057530 p.Pro427Leu LB/B rs17471501 - COL27A1 Q8IZC6 VAR_048784 p.Val89Ile LB/B rs2567707 - COL27A1 Q8IZC6 VAR_048785 p.Gln120Arg LB/B rs2567706 - COL27A1 Q8IZC6 VAR_048786 p.Ala265Thr LB/B rs34578955 - COL27A1 Q8IZC6 VAR_048787 p.Arg349Cys LB/B rs34973417 - COL27A1 Q8IZC6 VAR_048788 p.Ala422Thr LB/B rs2241671 - COL27A1 Q8IZC6 VAR_048789 p.Ile537Thr LB/B rs2808770 - COL27A1 Q8IZC6 VAR_048790 p.Ile611Phe LB/B rs2567705 - COL27A1 Q8IZC6 VAR_048791 p.Pro720Arg LB/B rs35446342 - COL27A1 Q8IZC6 VAR_048792 p.Pro1116Gln LB/B rs7048607 - COL27A1 Q8IZC6 VAR_048793 p.Arg1348Gln LB/B rs1631319 - COL27A1 Q8IZC6 VAR_048794 p.Arg1354Gln LB/B rs10982134 - COL27A1 Q8IZC6 VAR_048795 p.Met1808Val LB/B rs3736252 - COL27A1 Q8IZC6 VAR_072564 p.Gly697Arg LP/P rs140950220 Steel syndrome (STLS) [MIM:615155] COL28A1 Q2UY09 VAR_038566 p.Ala189Gly LB/B rs7804532 - COL28A1 Q2UY09 VAR_038567 p.Ile239Val LB/B rs10486180 - COL28A1 Q2UY09 VAR_038568 p.Thr327Ser LB/B rs10486176 - COL28A1 Q2UY09 VAR_038569 p.Glu433Asp LB/B rs6952195 - COL28A1 Q2UY09 VAR_038570 p.Ala472Pro LB/B rs17167927 - COL28A1 Q2UY09 VAR_038571 p.Arg741Gln LB/B rs17167102 - COL28A1 Q2UY09 VAR_061117 p.Ile437Met LB/B rs55745506 - COL2A1 P02458 VAR_001738 p.Gly267Asp LP/P rs121912872 Stickler syndrome 1 non-syndromic ocular (STL1O) [MIM:609508] COL2A1 P02458 VAR_001739 p.Arg275Cys LP/P rs121912876 Czech dysplasia (CZECHD) [MIM:609162] COL2A1 P02458 VAR_001741 p.Gly303Asp LP/P rs121912877 Kniest dysplasia (KD) [MIM:156550] COL2A1 P02458 VAR_001742 p.Gly354Arg LB/B rs121912871 - COL2A1 P02458 VAR_001743 p.Gly375Arg LP/P - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_001744 p.Gly447Ser LP/P - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_001745 p.Gly492Val LP/P rs121912881 Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250] COL2A1 P02458 VAR_001746 p.Gly504Cys LP/P rs121912880 Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250] COL2A1 P02458 VAR_001747 p.Gly510Asp LP/P - Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_001748 p.Arg719Cys LP/P rs121912865 Osteoarthritis with mild chondrodysplasia (OSCDP) [MIM:604864] COL2A1 P02458 VAR_001749 p.Gly774Ser LP/P rs121912867 Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_001751 p.Gly804Ala US - - COL2A1 P02458 VAR_001752 p.Gly891Arg LP/P rs121912879 Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_001752 p.Gly891Arg LP/P rs121912879 Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_001753 p.Gly909Cys LP/P rs121912875 Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250] COL2A1 P02458 VAR_001754 p.Gly969Ser LP/P rs121912878 Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_001755 p.Arg989Cys LP/P rs121912874 Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_001756 p.Gly1005Ser LB/B rs753342774 - COL2A1 P02458 VAR_001757 p.Gly1017Val LP/P - Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_001758 p.Gly1053Glu LB/B rs121912868 - COL2A1 P02458 VAR_001759 p.Gly1110Cys LP/P rs1938737050 Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_001760 p.Gly1113Cys US - - COL2A1 P02458 VAR_001761 p.Gly1143Ser LP/P - Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_001763 p.Gly1176Ser LP/P - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_001764 p.Gly1188Arg LP/P - Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_001765 p.Gly1197Ser LP/P rs121912870 Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_017105 p.Thr1439Met LP/P rs121912886 Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_017638 p.Thr9Ser LB/B rs3803183 - COL2A1 P02458 VAR_017639 p.Gly453Asp LP/P rs794727339 Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017640 p.Gly453Val LP/P - Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017641 p.Gly771Asp LP/P - Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017642 p.Gly780Arg LP/P - Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017643 p.Gly795Arg LP/P - Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017644 p.Gly894Glu LP/P - Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017645 p.Arg904Cys LP/P rs121912882 Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450] COL2A1 P02458 VAR_017645 p.Arg904Cys LP/P rs121912882 Stickler syndrome 1 (STL1) [MIM:108300] COL2A1 P02458 VAR_017646 p.Gly948Asp LP/P - Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017647 p.Gly981Ser LP/P - Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017649 p.Gly1065Val LP/P - Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017650 p.Gly1119Arg LP/P - Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017651 p.Gly1173Arg LP/P rs121912883 Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_017652 p.Val1331Ile LB/B rs12721427 - COL2A1 P02458 VAR_019836 p.Pro158Leu LB/B rs1050861 - COL2A1 P02458 VAR_023925 p.Gly318Arg LP/P rs121912894 Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508] COL2A1 P02458 VAR_023926 p.Gly516Asp LP/P rs121912888 Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_023927 p.Arg565Cys LP/P rs121912884 Stickler syndrome 1 (STL1) [MIM:108300] COL2A1 P02458 VAR_023928 p.Leu667Phe LP/P rs121912885 Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508] COL2A1 P02458 VAR_023929 p.Gly717Ser LP/P rs387906558 Avascular necrosis of femoral head, primary, 1 (ANFH1) [MIM:608805] COL2A1 P02458 VAR_023930 p.Gly855Ser LP/P rs1193507525 Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_023931 p.Gly897Val LP/P - Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250] COL2A1 P02458 VAR_023932 p.Arg992Gly LP/P rs121912895 Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250] COL2A1 P02458 VAR_023933 p.Gly1170Ser LP/P rs121912891 Avascular necrosis of femoral head, primary, 1 (ANFH1) [MIM:608805] COL2A1 P02458 VAR_023933 p.Gly1170Ser LP/P rs121912891 Legg-Calve-Perthes disease (LCPD) [MIM:150600] COL2A1 P02458 VAR_023934 p.Gly1305Asp LP/P rs121912887 Vitreoretinopathy with phalangeal epiphyseal dysplasia (VPED) [MIM:619248] COL2A1 P02458 VAR_023935 p.Tyr1391Cys LP/P rs121912889 Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] COL2A1 P02458 VAR_024819 p.Gly513Ser LP/P rs1555167156 Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_024820 p.Gly717Val LP/P - Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_024821 p.Gly771Ala LP/P - Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_024822 p.Thr1390Asn LP/P - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] COL2A1 P02458 VAR_024823 p.Thr1448Pro LP/P - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] COL2A1 P02458 VAR_024824 p.Asp1469His LP/P - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] COL2A1 P02458 VAR_024826 p.Cys1485Gly LP/P - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] COL2A1 P02458 VAR_033782 p.Glu142Asp LB/B rs34392760 - COL2A1 P02458 VAR_033783 p.Thr638Ile LB/B rs41263847 - COL2A1 P02458 VAR_033784 p.Ala1051Thr LB/B rs41272041 - COL2A1 P02458 VAR_033785 p.Gly1405Ser LB/B rs2070739 - COL2A1 P02458 VAR_063891 p.Cys57Tyr LP/P rs121912898 Stickler syndrome 1 non-syndromic ocular (STL1O) [MIM:609508] COL2A1 P02458 VAR_063892 p.Gly240Asp LP/P rs1592232040 Stickler syndrome 1 (STL1) [MIM:108300] COL2A1 P02458 VAR_063893 p.Gly270Arg LP/P - Stickler syndrome 1 (STL1) [MIM:108300] COL2A1 P02458 VAR_063894 p.Gly282Asp LP/P - Stickler syndrome 1 (STL1) [MIM:108300] COL2A1 P02458 VAR_063895 p.Gly453Ala LP/P rs794727339 Stickler syndrome 1 (STL1) [MIM:108300] COL2A1 P02458 VAR_063896 p.Gly501Arg LP/P - Stickler syndrome 1 (STL1) [MIM:108300] COL2A1 P02458 VAR_063897 p.Asp547Val LP/P - Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_063898 p.Gly1158Ala LP/P - Stickler syndrome 1 (STL1) [MIM:108300] COL2A1 P02458 VAR_066836 p.Gly1176Val US - - COL2A1 P02458 VAR_066837 p.Gly1179Arg US - - COL2A1 P02458 VAR_075729 p.Gly207Arg LP/P rs869312907 Spondyloepiphyseal dysplasia, Stanescu type (SEDSTN) [MIM:616583] COL2A1 P02458 VAR_075730 p.Thr1383Met LP/P rs138498898 Avascular necrosis of femoral head, primary, 1 (ANFH1) [MIM:608805] COL2A1 P02458 VAR_079748 p.Arg1459Cys LB/B rs148838496 - COL3A1 P02461 VAR_001767 p.Leu169Phe LB/B rs111391222 - COL3A1 P02461 VAR_001768 p.Gly183Cys LP/P rs121912926 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001769 p.Gly201Arg LP/P rs587779436 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001770 p.Gly228Glu LP/P rs587779555 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001771 p.Gly303Arg LP/P rs121912919 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001772 p.Gly540Arg LP/P rs587779584 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001773 p.Gly567Glu LP/P - Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001774 p.Gly582Ser LP/P rs121912923 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001775 p.Pro602Thr LB/B rs35795890 - COL3A1 P02461 VAR_001776 p.Pro635Leu LB/B rs902780774 - COL3A1 P02461 VAR_001777 p.Gly666Asp LP/P rs121912921 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001778 p.Ala698Thr LB/B rs1800255 - COL3A1 P02461 VAR_001779 p.Gly726Arg LP/P rs587779638 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001780 p.Gly756Glu LP/P rs1576468562 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001781 p.Gly762Cys LP/P - Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001782 p.Gly786Arg LP/P rs113485686 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001783 p.Gly804Ser LP/P rs121912920 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001784 p.Gly828Arg LP/P - Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001785 p.Gly909Asp LP/P - Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001786 p.Gly936Arg LP/P rs587779566 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001787 p.Gly936Ser LP/P - Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001788 p.Gly939Asp LP/P rs112978464 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001789 p.Gly957Ser LP/P rs121912913 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001790 p.Gly960Val LP/P rs121912922 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001791 p.Gly996Glu LP/P rs587779576 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001792 p.Gly1014Glu LP/P rs121912916 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001793 p.Gly1050Asp LP/P rs121912914 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001794 p.Gly1071Val LP/P rs587779709 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001795 p.Gly1077Val LP/P rs121912915 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001796 p.Gly1101Glu LP/P rs121912924 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001797 p.Gly1104Ala LP/P - Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001798 p.Gly1164Ser US - - COL3A1 P02461 VAR_001799 p.Gly1167Val LP/P rs587779578 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001800 p.Gly1170Asp LP/P rs587779465 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001801 p.Gly1173Glu LP/P rs121912918 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001802 p.Gly1176Val LP/P - Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001803 p.Gly1182Glu LP/P rs111505097 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001804 p.Gly1185Asp LP/P rs121912917 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001805 p.Gly1185Val LP/P rs121912917 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001806 p.Gly1188Glu LP/P rs112456072 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_001807 p.Gly1188Arg LP/P rs587779504 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011095 p.Gly183Asp LP/P rs587779420 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011096 p.Gly183Ser LP/P rs121912926 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011097 p.Gly192Val LP/P rs587779710 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011098 p.Gly204Asp LP/P rs587779626 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011099 p.Gly204Ser LP/P rs587779711 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011100 p.Gly210Asp LP/P - Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011101 p.Gly219Cys LP/P rs587779624 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011102 p.Gly225Val LP/P rs587779533 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011103 p.Gly240Arg LP/P rs587779468 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011104 p.Gly243Val LP/P rs587779629 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011105 p.Gly249Asp LP/P rs121912927 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011106 p.Gly249Val LP/P rs121912927 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011107 p.Gly252Asp LP/P rs587779464 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011108 p.Gly252Arg LP/P rs587779705 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011109 p.Gly252Val LP/P rs587779464 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011110 p.Gly255Val LP/P rs587779605 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011111 p.Gly264Arg LP/P - Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011112 p.Gly267Val LP/P rs587779427 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011113 p.Gly321Val LP/P rs587779588 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011114 p.Gly327Asp LP/P - Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011115 p.Gly345Arg LP/P rs587779419 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011116 p.Gly417Arg LP/P rs587779637 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011117 p.Gly444Arg LP/P rs587779489 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011118 p.Gly489Glu LP/P rs587779476 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011119 p.Gly501Arg LP/P rs587779523 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011120 p.Gly519Val LP/P - Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011121 p.Gly549Glu LP/P rs587779679 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011122 p.Gly552Glu LP/P rs121912928 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011123 p.Gly588Asp LP/P rs587779691 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011124 p.Gly636Arg LP/P rs587779522 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011125 p.Gly657Glu LP/P rs587779699 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011126 p.Gly660Asp LP/P rs587779493 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011127 p.Pro668Thr LB/B rs1801183 - COL3A1 P02461 VAR_011128 p.Gly699Arg LP/P rs587779668 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011129 p.Gly738Ser LP/P rs121912925 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011130 p.Gly738Val LP/P rs587779615 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011131 p.Gly744Val LP/P rs587779697 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011132 p.Gly828Trp LP/P rs587779486 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011133 p.Gly852Cys LP/P rs587779690 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011134 p.Gly879Val LP/P rs587779645 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011135 p.Gly882Asp LP/P rs587779622 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011136 p.Gly900Asp LP/P rs587779599 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011137 p.Gly903Glu LP/P rs587779505 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011138 p.Gly909Val LP/P rs587779483 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011139 p.Gly918Glu LP/P rs587779662 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011140 p.Gly924Cys LP/P rs587779471 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011141 p.Gly942Glu LP/P rs587779517 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011142 p.Gly966Val LP/P rs587779571 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011143 p.Gly972Ala LP/P rs587779559 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011144 p.Gly984Thr LP/P rs1559061242 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011145 p.Gly999Arg LP/P rs587779548 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011146 p.Gly1011Glu LP/P rs587779552 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011147 p.Gly1032Val LP/P rs587779428 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011148 p.Gly1035Cys LP/P rs587779704 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011149 p.Gly1044Asp LP/P - Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011150 p.Gly1050Val LP/P rs121912914 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011151 p.Gly1089Asp LP/P rs587779672 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011152 p.Gly1098Asp LP/P - Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011153 p.Gly1098Val LP/P rs587779614 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011154 p.Gly1161Val LP/P rs587779473 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011155 p.Gly1164Glu LP/P rs587779431 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011156 p.Gly1164Arg LP/P rs587779553 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011157 p.Gly1170Val LP/P rs587779465 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011158 p.Gly1173Arg LP/P rs587779521 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_011159 p.Gly1179Arg LP/P rs587779574 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_020012 p.Ile1205Val LB/B rs2271683 - COL3A1 P02461 VAR_030115 p.His1353Gln LB/B rs1516446 - COL3A1 P02461 VAR_035738 p.Gly420Ser US rs587779692 A colorectal cancer sample COL3A1 P02461 VAR_035739 p.Arg1434Cys US rs747324731 A colorectal cancer sample COL3A1 P02461 VAR_037007 p.Gly297Arg LP/P rs1553507557 Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1 P02461 VAR_055665 p.Gly534Glu LB/B rs41263744 - COL3A1 P02461 VAR_055666 p.Ala679Thr LB/B rs41263773 - COL3A1 P02461 VAR_055667 p.Pro686Ala LB/B rs41263775 - COL3A1 P02461 VAR_082043 p.Pro49Ala LP/P rs1234344050 Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (PMGEDSV) [MIM:618343] COL3A1 P02461 VAR_082046 p.Gly1284Glu LP/P rs587779528 Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (PMGEDSV) [MIM:618343] COL4A1 P02462 VAR_020013 p.Gln1334His LB/B rs3742207 - COL4A1 P02462 VAR_030027 p.Val7Leu LB/B rs9515185 - COL4A1 P02462 VAR_030028 p.Gly562Glu LP/P rs121912857 Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780] COL4A1 P02462 VAR_030029 p.Gly749Ser LP/P rs113994109 Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780] COL4A1 P02462 VAR_030030 p.Gly1130Asp LP/P rs113994111 Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780] COL4A1 P02462 VAR_030031 p.Gly1236Arg LP/P rs113994112 Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780] COL4A1 P02462 VAR_030032 p.Gly1423Arg LP/P rs113994113 Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780] COL4A1 P02462 VAR_030511 p.Pro555Thr LB/B rs536174 - COL4A1 P02462 VAR_044158 p.Pro304Leu LB/B rs34843786 - COL4A1 P02462 VAR_044159 p.Gly498Val LP/P rs113994104 Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] COL4A1 P02462 VAR_044160 p.Gly519Arg LP/P rs113994105 Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] COL4A1 P02462 VAR_044161 p.Gly528Glu LP/P rs113994106 Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] COL4A1 P02462 VAR_064493 p.Gly498Arg LP/P rs267606744 Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] COL4A1 P02462 VAR_064494 p.Gly510Arg LP/P rs267606743 Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] COL4A1 P02462 VAR_064494 p.Gly510Arg LP/P rs267606743 Tortuosity of retinal arteries (RATOR) [MIM:180000] COL4A1 P02462 VAR_064495 p.Gly525Leu LP/P rs281865426 Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] COL4A1 P02462 VAR_064496 p.Gly720Asp LP/P rs113994108 Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780] COL4A1 P02462 VAR_064497 p.Gly755Arg LP/P rs672601346 Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780] COL4A1 P02462 VAR_064498 p.Gly805Arg LP/P rs113994110 Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780] COL4A1 P02462 VAR_064499 p.Gly1580Arg LP/P rs113994114 Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780] COL4A1 P02462 VAR_073809 p.Ala144Val LB/B - - COL4A1 P02462 VAR_073810 p.Pro352Leu LP/P rs200786329 Intracerebral hemorrhage (ICH) [MIM:614519] COL4A1 P02462 VAR_073811 p.Arg538Gly LP/P rs397514624 Intracerebral hemorrhage (ICH) [MIM:614519] COL4A1 P02462 VAR_073812 p.Gly655Arg LP/P - Schizencephaly (SCHZC) [MIM:269160] COL4A1 P02462 VAR_073813 p.Gly708Arg LP/P rs672601349 Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780] COL4A1 P02462 VAR_073814 p.Gly773Arg LP/P rs672601347 Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780] COL4A1 P02462 VAR_073815 p.Gly870Arg LP/P rs1877962670 Schizencephaly (SCHZC) [MIM:269160] COL4A1 P02462 VAR_073816 p.Gly882Asp LP/P - Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780] COL4A1 P02462 VAR_073817 p.Gly897Ser LP/P - Schizencephaly (SCHZC) [MIM:269160] COL4A1 P02462 VAR_073818 p.Gly948Ser LP/P rs1555303073 Schizencephaly (SCHZC) [MIM:269160] COL4A1 P02462 VAR_073819 p.Gly1041Glu LP/P - Schizencephaly (SCHZC) [MIM:269160] COL4A1 P02462 VAR_073820 p.Gly1082Glu LP/P - Schizencephaly (SCHZC) [MIM:269160] COL4A1 P02462 VAR_073821 p.Gly1266Arg LP/P - Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780] COL4A1 P02462 VAR_073822 p.Gly1326Arg LP/P rs587777379 Schizencephaly (SCHZC) [MIM:269160] COL4A1 P02462 VAR_073823 p.Gly1332Asp LP/P rs1877331560 Schizencephaly (SCHZC) [MIM:269160] COL4A1 P02462 VAR_073824 p.Met1531Val LB/B rs1343193102 - COL4A1 P02462 VAR_073825 p.Glu1615Lys LP/P rs1876543576 Schizencephaly (SCHZC) [MIM:269160] COL4A1 P02462 VAR_073826 p.Asn1627Lys LP/P rs672601348 Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780] COL4A2 P08572 VAR_048796 p.Arg517Lys LB/B rs7990383 - COL4A2 P08572 VAR_048797 p.Gly683Ala LB/B rs3803230 - COL4A2 P08572 VAR_067551 p.Val192Phe LB/B rs62621885 - COL4A2 P08572 VAR_067552 p.Lys701Arg LB/B rs78829338 - COL4A2 P08572 VAR_067553 p.Arg1109Gln LB/B rs184812559 - COL4A2 P08572 VAR_067554 p.Glu1123Gly LB/B rs117412802 - COL4A2 P08572 VAR_067555 p.Gln1150Lys LB/B rs62621875 - COL4A2 P08572 VAR_067556 p.Gly1389Arg US - - COL4A2 P08572 VAR_067557 p.Val1399Ile LB/B rs45520539 - COL4A2 P08572 VAR_067558 p.Ala1690Thr LB/B rs201105747 - COL4A2 P08572 VAR_067836 p.Pro718Ser LB/B rs9583500 - COL4A2 P08572 VAR_067837 p.Gly1037Glu LP/P rs387906603 Brain small vessel disease 2 (BSVD2) [MIM:614483] COL4A2 P08572 VAR_067838 p.Gly1152Asp LP/P rs387906602 Brain small vessel disease 2 (BSVD2) [MIM:614483] COL4A3 Q01955 VAR_001908 p.Leu1474Pro LB/B rs200302125 - COL4A3 Q01955 VAR_001909 p.Gln1495Arg LB/B rs77964815 - COL4A3 Q01955 VAR_011202 p.Gly43Arg LB/B rs13424243 - COL4A3 Q01955 VAR_011203 p.Glu162Gly LB/B rs6436669 - COL4A3 Q01955 VAR_011204 p.Gly297Glu LP/P rs1422638161 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A3 Q01955 VAR_011205 p.Asp326Tyr LB/B rs55703767 - COL4A3 Q01955 VAR_011206 p.Gly407Arg LP/P rs1559878862 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A3 Q01955 VAR_011207 p.Arg408His LB/B rs34505188 - COL4A3 Q01955 VAR_011208 p.His451Arg LB/B rs11677877 - COL4A3 Q01955 VAR_011209 p.Pro574Leu LB/B rs28381984 - COL4A3 Q01955 VAR_011210 p.Gly640Arg LP/P rs200672668 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A3 Q01955 VAR_011211 p.Gly1167Arg LP/P rs267606745 Alport syndrome 3A, autosomal dominant (ATS3A) [MIM:104200] COL4A3 Q01955 VAR_011212 p.Gly1207Glu LP/P rs1553764136 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A3 Q01955 VAR_011213 p.Arg1215Gln US rs200443942 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A3 Q01955 VAR_011214 p.Asp1269Glu LB/B rs57611801 - COL4A3 Q01955 VAR_011215 p.Gly1277Ser LP/P rs190598500 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A3 Q01955 VAR_011216 p.Ile1330Thr US rs767033956 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A3 Q01955 VAR_011217 p.Gly1334Glu LP/P rs375290088 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A3 Q01955 VAR_011218 p.Asp1347Glu US rs73996414 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A3 Q01955 VAR_011219 p.Arg1661Cys US rs201697532 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A3 Q01955 VAR_030944 p.Leu141Pro LB/B rs10178458 - COL4A3 Q01955 VAR_030945 p.Gly532Asp LP/P rs371405814 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A3 Q01955 VAR_030946 p.Gly739Arg LP/P rs375040636 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A3 Q01955 VAR_030947 p.Gly853Arg LP/P rs763726708 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A3 Q01955 VAR_030948 p.Gly985Val LP/P rs121912827 Hematuria, benign familial, 2 (BFH2) [MIM:620320] COL4A3 Q01955 VAR_030949 p.Gly1015Glu LP/P rs121912826 Hematuria, benign familial, 2 (BFH2) [MIM:620320] COL4A3 Q01955 VAR_030950 p.Gly1216Arg LP/P - Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A3 Q01955 VAR_061118 p.Lys834Arg LB/B rs56226424 - COL4A3 Q01955 VAR_080826 p.Gly631Val US rs1315862965 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A4 P53420 VAR_001912 p.Gly897Glu LP/P rs121912860 Hematuria, benign familial, 1 (BFH1) [MIM:141200] COL4A4 P53420 VAR_001913 p.Gly1201Ser LP/P rs121912858 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A4 P53420 VAR_008149 p.Gly545Ala LB/B rs1800516 - COL4A4 P53420 VAR_008150 p.Glu570Gln LB/B - - COL4A4 P53420 VAR_008151 p.Ala931Thr LB/B rs75875272 - COL4A4 P53420 VAR_008152 p.Pro1004Leu LB/B rs1800517 - COL4A4 P53420 VAR_008153 p.Gly1030Val LP/P rs772699709 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A4 P53420 VAR_008154 p.Pro1402Ser LB/B - - COL4A4 P53420 VAR_008155 p.Pro1572Leu LP/P rs121912863 Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780] COL4A4 P53420 VAR_022069 p.Pro482Ser LB/B rs2229814 - COL4A4 P53420 VAR_031622 p.Ile6Thr LB/B rs16823264 - COL4A4 P53420 VAR_031623 p.Gly116Glu LP/P rs1553696235 Hematuria, benign familial, 1 (BFH1) [MIM:141200] COL4A4 P53420 VAR_031624 p.Gly960Arg LP/P rs769783985 Hematuria, benign familial, 1 (BFH1) [MIM:141200] COL4A4 P53420 VAR_031625 p.Gly999Glu LP/P rs13027659 Hematuria, benign familial, 1 (BFH1) [MIM:141200] COL4A4 P53420 VAR_031626 p.Pro1132Leu LP/P - Hematuria, benign familial, 1 (BFH1) [MIM:141200] COL4A4 P53420 VAR_031627 p.Val1327Met LB/B rs2229813 - COL4A4 P53420 VAR_031628 p.Ser1403Pro LB/B rs3752895 - COL4A4 P53420 VAR_055680 p.Glu594Gly LB/B rs35998949 - COL4A4 P53420 VAR_055681 p.Val670Ile LB/B rs34236495 - COL4A4 P53420 VAR_055682 p.Pro759Leu LB/B rs36121515 - COL4A5 P29400 VAR_001914 p.Gly54Asp LP/P rs104886043 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001915 p.Gly129Glu LP/P rs281874723 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001916 p.Gly129Val LP/P rs281874723 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001917 p.Gly174Arg LP/P rs104886055 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001918 p.Gly177Arg LP/P rs104886056 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001919 p.Gly216Arg LP/P rs104886067 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001920 p.Gly219Ser LP/P rs104886075 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001921 p.Gly289Val LP/P rs104886450 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001922 p.Gly292Val LP/P rs104886078 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001923 p.Gly325Glu LP/P rs104886091 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001924 p.Gly325Arg LP/P rs104886088 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001925 p.Gly365Glu LP/P rs104886096 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001927 p.Gly371Glu LP/P rs104886097 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001928 p.Gly374Ala LP/P rs104886108 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001929 p.Gly383Asp LP/P rs104886105 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001930 p.Gly400Glu LP/P rs104886107 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001931 p.Gly406Val LP/P rs104886100 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001932 p.Gly409Asp LP/P rs104886101 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001933 p.Ala430Asp LB/B rs142883891 - COL4A5 P29400 VAR_001934 p.Ile444Ser LB/B rs2272946 - COL4A5 P29400 VAR_001936 p.Gly466Glu LP/P rs104886114 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001937 p.Gly494Asp LP/P rs104886118 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001939 p.Gly521Cys LP/P rs104886121 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001940 p.Gly521Ser LP/P rs104886121 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001941 p.Gly567Ala LP/P rs104886137 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001942 p.Gly609Val LP/P rs104886140 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001943 p.Gly638Val LP/P rs104886134 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001944 p.Gly638Ala LP/P rs104886134 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001945 p.Gly653Arg LP/P rs104886150 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001946 p.Lys664Asn LB/B rs34077552 - COL4A5 P29400 VAR_001947 p.Gly684Val LP/P rs104886160 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001948 p.Gly740Glu LP/P rs104886165 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001949 p.Gly772Asp LP/P rs104886173 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001950 p.Gly796Arg LP/P rs104886177 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001951 p.Gly852Arg LP/P rs104886186 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001952 p.Gly866Glu LP/P rs104886188 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001953 p.Gly869Arg LP/P rs104886189 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001954 p.Gly872Arg LP/P rs104886190 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001956 p.Gly1104Val LP/P rs104886224 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001957 p.Gly1143Asp LP/P rs104886229 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001958 p.Gly1143Ser LP/P rs104886228 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001959 p.Gly1182Arg LP/P rs104886242 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001960 p.Gly1241Cys LP/P rs104886255 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001961 p.Gly1270Ser LP/P rs104886257 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001962 p.Gly1379Val LP/P rs104886269 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001963 p.Arg1410Cys LP/P rs104886270 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001964 p.Gly1421Trp LP/P rs104886272 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001965 p.Arg1422Cys LP/P rs144282156 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001966 p.Gly1451Ser LP/P rs104886280 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001967 p.Ala1498Asp LP/P rs104886284 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001968 p.Pro1517Thr LP/P rs201220208 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001969 p.Trp1538Ser LP/P rs104886293 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001970 p.Arg1563Gln LP/P rs281874743 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001971 p.Cys1564Ser LP/P rs104886287 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001972 p.Gly1596Asp LP/P rs104886297 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001973 p.Leu1649Arg LP/P rs104886303 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_001974 p.Arg1677Gln LP/P rs104886308 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_007991 p.Gly114Ser LP/P - Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_007992 p.Gly331Val LP/P rs104886092 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_007993 p.Gly472Arg LP/P rs104886116 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_007994 p.Gly545Arg LP/P rs104886126 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_007995 p.Gly545Val LP/P rs104886127 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_007996 p.Gly561Arg LP/P rs104886136 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_007997 p.Gly579Arg LP/P rs104886139 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_007998 p.Gly635Asp LP/P rs281874683 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_007999 p.Gly638Ser LP/P rs104886147 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_008000 p.Gly669Ala LP/P rs104886151 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_008001 p.Gly687Glu LP/P rs104886168 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_008002 p.Gly743Asp LP/P rs104886166 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_008003 p.Gly808Glu LP/P rs104886180 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_008005 p.Gly852Glu LP/P rs104886187 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_008006 p.Gly878Arg LP/P - Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_008008 p.Gly1107Arg LP/P rs104886225 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_008009 p.Gly1161Arg LP/P rs104886235 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_008010 p.Gly1211Arg LP/P rs104886246 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_008011 p.Gly1220Asp LP/P rs104886251 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_008012 p.Gly1333Ser LP/P rs104886266 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_008013 p.Gly1427Val LP/P rs104886274 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_008014 p.Gly1442Asp LP/P rs104886277 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_008015 p.Gly1486Ala LP/P rs104886282 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_008016 p.Pro1559Ala LB/B rs104886295 - COL4A5 P29400 VAR_011220 p.Gly177Cys LP/P rs104886056 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011221 p.Gly192Arg LP/P rs104886060 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011222 p.Gly204Val LP/P rs104886063 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011223 p.Gly230Arg LP/P rs104886076 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011224 p.Gly239Glu LP/P rs104886068 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011225 p.Gly264Arg LP/P rs104886069 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011226 p.Gly292Arg LP/P rs104886073 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011227 p.Gly295Asp LP/P rs104886079 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011228 p.Gly298Ser LP/P rs104886080 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011229 p.Gly319Arg LP/P rs104886085 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011230 p.Gly412Val LP/P rs104886102 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011231 p.Gly415Arg LP/P rs104886103 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011232 p.Gly420Glu LP/P rs281874663 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011233 p.Gly420Val LP/P rs281874663 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011234 p.Gly423Glu LP/P rs104886110 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011235 p.Gly491Glu LP/P rs104886117 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011236 p.Gly497Cys LP/P rs104886120 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011237 p.Gly524Asp LP/P rs104886119 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011238 p.Gly558Arg LP/P rs104886129 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011239 p.Gly573Asp LP/P rs104886138 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011240 p.Gly579Glu LP/P rs104886130 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011241 p.Gly603Val LP/P rs104886133 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011242 p.Gly609Arg LP/P rs104886135 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011243 p.Pro619Ser LB/B rs1569494314 - COL4A5 P29400 VAR_011244 p.Gly621Cys LP/P rs104886141 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011245 p.Gly624Asp LP/P rs104886142 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011246 p.Gly629Asp LP/P rs104886144 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011247 p.Gly632Asp LP/P rs104886145 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011248 p.Glu633Lys LP/P rs104886146 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011249 p.Gly681Asp LP/P rs104886158 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011250 p.Gly722Glu LP/P rs104886163 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011251 p.Pro739Ala LB/B rs104886164 - COL4A5 P29400 VAR_011252 p.Pro739Ser LP/P rs104886164 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011253 p.Gly802Arg LP/P rs104886179 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011255 p.Gly811Val LP/P rs104886183 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011256 p.Gly822Arg LP/P rs104886184 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011258 p.Met898Val LP/P rs104886192 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011259 p.Gly902Val LP/P rs104886361 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011260 p.Gly911Glu LP/P rs104886363 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011261 p.Gly941Cys LP/P rs104886196 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011262 p.Gly947Asp LP/P rs104886370 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011263 p.Gly953Val LP/P rs78972735 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011264 p.Gly1006Ala LP/P - Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011265 p.Gly1006Val LP/P rs104886202 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011266 p.Gly1015Glu LP/P - Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011267 p.Gly1015Val LP/P rs104886211 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011268 p.Gly1030Ser LP/P rs104886210 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011269 p.Gly1036Val LP/P rs104886212 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011270 p.Gly1039Ser LP/P rs104886214 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011271 p.Gly1045Glu LP/P rs104886215 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011272 p.Gly1066Arg LP/P rs104886219 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011273 p.Gly1066Ser LP/P rs104886219 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011274 p.Gly1086Asp LP/P rs104886232 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011275 p.Gly1158Arg LP/P rs104886389 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011276 p.Gly1167Ser LP/P rs104886236 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011277 p.Gly1170Ser LP/P rs104886237 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011278 p.Gly1196Arg LP/P rs104886244 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011279 p.Gly1205Cys LP/P rs104886245 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011280 p.Gly1211Glu LP/P rs104886247 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011281 p.Gly1229Asp LP/P rs104886253 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011282 p.Gly1244Asp LP/P rs104886261 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011283 p.Gly1252Ser LP/P rs104886262 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011284 p.Gly1261Glu LP/P rs104886264 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011285 p.Gly1357Ser LP/P rs104886267 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011286 p.Leu1428Met LB/B rs1569508163 - COL4A5 P29400 VAR_011287 p.Ser1488Phe LP/P rs104886283 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011288 p.Arg1511His US rs104886285 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011289 p.Cys1567Arg LP/P rs104886288 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011290 p.Arg1677Pro LP/P rs104886308 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_011291 p.Cys1678Trp LP/P rs104886311 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A5 P29400 VAR_071932 p.Gly123Glu LP/P rs1569488429 Alport syndrome 1, X-linked (ATS1) [MIM:301050] COL4A6 Q14031 VAR_015216 p.Ser455Ala LB/B rs1042065 - COL4A6 Q14031 VAR_015217 p.Asn1110Lys LB/B rs1042067 - COL4A6 Q14031 VAR_032972 p.Pro1126Ser LB/B rs35179844 - COL4A6 Q14031 VAR_032973 p.Ile1162Val LB/B rs34466065 - COL4A6 Q14031 VAR_032974 p.Leu1362Pro LB/B rs35363062 - COL4A6 Q14031 VAR_035748 p.Gly1130Glu US - A colorectal cancer sample COL4A6 Q14031 VAR_059242 p.Ser455Pro LB/B rs1042065 - COL4A6 Q14031 VAR_070936 p.Gly591Ser LP/P rs779748859 Deafness, X-linked, 6 (DFNX6) [MIM:300914] COL5A1 P20908 VAR_001808 p.Cys1639Ser LP/P rs80338764 Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000] COL5A1 P20908 VAR_015412 p.Gly530Ser LP/P rs61735045 Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000] COL5A1 P20908 VAR_015413 p.Gly1489Asp LP/P - Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000] COL5A1 P20908 VAR_057902 p.Leu25Pro LP/P - Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000] COL5A1 P20908 VAR_057903 p.Leu25Arg LP/P - Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000] COL5A1 P20908 VAR_057904 p.Ala114Asp LB/B rs147589613 - COL5A1 P20908 VAR_057905 p.Asp192Asn LB/B rs138579182 - COL5A1 P20908 VAR_057906 p.Asp229Asn US - - COL5A1 P20908 VAR_057908 p.Asn951Ser LB/B rs61736966 - COL5A1 P20908 VAR_057909 p.Gly1486Cys LP/P - Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000] COL5A1 P20908 VAR_064702 p.Pro908Leu LB/B rs772211736 - COL5A1 P20908 VAR_075702 p.Glu863Val LB/B rs139788610 - COL5A1 P20908 VAR_075703 p.Val1140Met LB/B rs149616140 - COL5A1 P20908 VAR_085830 p.Gln123Glu US rs142114921 Fibromuscular dysplasia, multifocal (FMDMF) [MIM:619329] COL5A1 P20908 VAR_085831 p.Gly514Ser LP/P rs878853652 Fibromuscular dysplasia, multifocal (FMDMF) [MIM:619329] COL5A1 P20908 VAR_085832 p.Arg611Trp US - Fibromuscular dysplasia, multifocal (FMDMF) [MIM:619329] COL5A1 P20908 VAR_085833 p.Pro1164Leu US - Fibromuscular dysplasia, multifocal (FMDMF) [MIM:619329] COL5A1 P20908 VAR_085834 p.Pro1400Ser US - Fibromuscular dysplasia, multifocal (FMDMF) [MIM:619329] COL5A2 P05997 VAR_013588 p.Gly963Arg LP/P rs1186550791 Ehlers-Danlos syndrome, classic type, 2 (EDSCL2) [MIM:130010] COL5A2 P05997 VAR_048799 p.Pro460Ser LB/B rs35830636 - COL5A2 P05997 VAR_048800 p.Arg956Pro LB/B rs6434313 - COL5A2 P05997 VAR_057910 p.Val512Ala LB/B rs35852101 - COL5A2 P05997 VAR_057911 p.Pro833Leu LB/B rs116298748 - COL5A2 P05997 VAR_057912 p.Thr1230Ser LB/B rs767234623 - COL5A2 P05997 VAR_057913 p.Asp1432Val LB/B rs141777954 - COL5A2 P05997 VAR_078424 p.Gly228Arg LP/P - Ehlers-Danlos syndrome, classic type, 2 (EDSCL2) [MIM:130010] COL5A3 P25940 VAR_020015 p.Arg134His LB/B rs2303098 - COL5A3 P25940 VAR_020016 p.Arg1207Pro LB/B rs2287813 - COL5A3 P25940 VAR_020017 p.Val1428Met LB/B rs3815746 - COL5A3 P25940 VAR_020018 p.Ile1594Met LB/B rs3745581 - COL5A3 P25940 VAR_020019 p.Val1691Ile LB/B rs2277969 - COL5A3 P25940 VAR_055678 p.Arg1042Pro LB/B rs2161468 - COL5A3 P25940 VAR_055679 p.Ala1488Pro LB/B rs3745584 - COL5A3 P25940 VAR_060789 p.Arg322Gly LB/B rs2287803 - COL6A1 P12109 VAR_013580 p.Lys121Arg LP/P rs121912936 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A1 P12109 VAR_013581 p.Gly305Val LP/P - Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A1 P12109 VAR_013582 p.Gly341Asp LP/P rs121912935 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A1 P12109 VAR_048763 p.Arg439Gln LB/B rs35059000 - COL6A1 P12109 VAR_048764 p.Arg850His LB/B rs1053312 - COL6A1 P12109 VAR_058213 p.Ser116Asn LB/B rs11553519 - COL6A1 P12109 VAR_058214 p.Gly272Asp LP/P rs1064793840 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A1 P12109 VAR_058215 p.Pro274Leu LP/P rs201093313 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A1 P12109 VAR_058216 p.Gly275Arg LP/P rs1556425467 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A1 P12109 VAR_058217 p.Gly281Arg LP/P rs267606746 Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090] COL6A1 P12109 VAR_058218 p.Gly284Arg LP/P rs121912938 Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090] COL6A1 P12109 VAR_058219 p.Gly290Arg LP/P rs121912939 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A1 P12109 VAR_058219 p.Gly290Arg LP/P rs121912939 Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090] COL6A1 P12109 VAR_058220 p.Gly332Ser LB/B rs11701912 - COL6A1 P12109 VAR_058221 p.Gly341Val LP/P rs121912935 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A1 P12109 VAR_058222 p.Lys571Thr LP/P rs751040647 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A1 P12109 VAR_058223 p.Thr881Met LB/B rs150432347 - COL6A1 P12109 VAR_058224 p.Ser890Leu LB/B rs13051496 - COL6A1 P12109 VAR_081097 p.Asp43Ala LB/B rs786205555 - COL6A2 P12110 VAR_013589 p.Gly271Ser LP/P rs121912940 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A2 P12110 VAR_013590 p.Asp621Asn LP/P rs267606750 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A2 P12110 VAR_030315 p.Ser399Asn LB/B rs2839110 - COL6A2 P12110 VAR_030316 p.Arg680His LB/B rs1042917 - COL6A2 P12110 VAR_048801 p.Asp227Asn LB/B rs35881321 - COL6A2 P12110 VAR_048802 p.Gly935Arg LB/B rs35548026 - COL6A2 P12110 VAR_048803 p.Ile1015Leu LB/B rs11910483 - COL6A2 P12110 VAR_058225 p.Glu106Lys LB/B rs141703710 - COL6A2 P12110 VAR_058226 p.Gly283Arg LP/P rs267606748 Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090] COL6A2 P12110 VAR_058227 p.Arg489Gln LB/B rs61735828 - COL6A2 P12110 VAR_058228 p.Arg498His LP/P rs267606749 Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090] COL6A2 P12110 VAR_058229 p.Pro518Ser LB/B rs141166141 - COL6A2 P12110 VAR_058230 p.Gly531Arg LP/P - Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090] COL6A2 P12110 VAR_058231 p.Gly700Ser LP/P rs794727418 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A2 P12110 VAR_058232 p.Arg724Cys LB/B rs150098077 - COL6A2 P12110 VAR_058233 p.Cys777Arg LP/P rs267606747 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A2 P12110 VAR_058234 p.Arg784His LB/B rs75120695 - COL6A2 P12110 VAR_058235 p.Val804Gly LB/B rs779847082 - COL6A2 P12110 VAR_058236 p.Leu837Pro LP/P rs1255514828 Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090] COL6A2 P12110 VAR_058237 p.Arg853Gln LB/B rs144830948 - COL6A2 P12110 VAR_058238 p.Arg876Ser LP/P rs387906608 Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090] COL6A2 P12110 VAR_058239 p.Ser895Arg LB/B rs141233891 - COL6A2 P12110 VAR_058241 p.Pro932Leu LP/P rs117725825 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A2 P12110 VAR_076959 p.Arg377Cys LB/B rs144801620 - COL6A2 P12110 VAR_076960 p.Asp446Asn LB/B rs535007570 - COL6A2 P12110 VAR_076961 p.Val728Met LB/B rs200585528 - COL6A2 P12110 VAR_076962 p.Arg843Gln LB/B rs201736323 - COL6A2 P12110 VAR_076963 p.Phe1010Cys LB/B rs1051148162 - COL6A3 P12111 VAR_001910 p.Gly1679Glu LP/P rs121434553 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A3 P12111 VAR_001911 p.Asp2831His LB/B rs36104025 - COL6A3 P12111 VAR_047279 p.Thr538Met LB/B rs34741387 - COL6A3 P12111 VAR_047280 p.Arg659His LB/B rs36092870 - COL6A3 P12111 VAR_047281 p.Val886Glu LB/B rs9630964 - COL6A3 P12111 VAR_047282 p.Lys1088Gln LB/B rs11896521 - COL6A3 P12111 VAR_047283 p.Pro2218Leu LB/B rs36117715 - COL6A3 P12111 VAR_047284 p.Asn2805Thr LB/B rs35848091 - COL6A3 P12111 VAR_047285 p.Met2927Thr LB/B rs6728818 - COL6A3 P12111 VAR_047286 p.Met2988Val LB/B rs11690358 - COL6A3 P12111 VAR_047287 p.Ala3012Pro LB/B rs2270669 - COL6A3 P12111 VAR_047288 p.Thr3069Ile LB/B rs1131296 - COL6A3 P12111 VAR_058242 p.Leu411Val LB/B rs113716915 - COL6A3 P12111 VAR_058243 p.Asp491His LB/B rs112010940 - COL6A3 P12111 VAR_058244 p.Thr492Ser LB/B rs113897824 - COL6A3 P12111 VAR_058245 p.Arg677His LB/B rs35227432 - COL6A3 P12111 VAR_058246 p.Ala807Thr LB/B rs113155945 - COL6A3 P12111 VAR_058247 p.Ala830Ser LB/B rs77181645 - COL6A3 P12111 VAR_058248 p.Lys1014Glu LP/P rs114284669 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A3 P12111 VAR_058249 p.Arg1064Gln LB/B rs112638391 - COL6A3 P12111 VAR_058250 p.Glu1386Lys LP/P rs146092501 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A3 P12111 VAR_058251 p.Arg1395Gln LB/B rs80272723 - COL6A3 P12111 VAR_058252 p.Asn1467Asp LP/P rs138049094 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A3 P12111 VAR_058253 p.Arg1576Gln LB/B rs61729839 - COL6A3 P12111 VAR_058254 p.Arg1632Gln LB/B rs111231885 - COL6A3 P12111 VAR_058255 p.Asp1674Asn LP/P rs778940391 Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090] COL6A3 P12111 VAR_058256 p.Pro1687Ser LB/B rs35273032 - COL6A3 P12111 VAR_058257 p.Leu1726Arg LP/P rs121434555 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A3 P12111 VAR_058258 p.Val1985Met LP/P rs200478135 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A3 P12111 VAR_058259 p.Gly2047Asp LP/P - Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A3 P12111 VAR_058260 p.Gly2056Arg LP/P - Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A3 P12111 VAR_058261 p.Gly2080Asp LP/P rs794727188 Bethlem myopathy 1 (BTHLM1) [MIM:158810] COL6A3 P12111 VAR_058262 p.Asp2431Val LB/B - - COL6A3 P12111 VAR_058263 p.Glu2453Lys LB/B rs886044364 - COL6A3 P12111 VAR_058264 p.Ala2941Val LB/B rs11903206 - COL6A3 P12111 VAR_073836 p.Arg2501His LP/P rs541928674 Dystonia 27 (DYT27) [MIM:616411] COL6A3 P12111 VAR_073837 p.Ala2554Thr LP/P rs786205870 Dystonia 27 (DYT27) [MIM:616411] COL6A3 P12111 VAR_073838 p.Arg3043His LP/P rs552651651 Dystonia 27 (DYT27) [MIM:616411] COL6A3 P12111 VAR_073839 p.Pro3082Arg LP/P rs182976977 Dystonia 27 (DYT27) [MIM:616411] COL6A5 A8TX70 VAR_043607 p.Gln2188Arg LB/B rs9883988 - COL6A5 A8TX70 VAR_043608 p.Gly2205Asp LB/B rs819085 - COL6A5 A8TX70 VAR_059234 p.Glu455Lys LB/B rs1453241 - COL6A5 A8TX70 VAR_059235 p.Asn641His LB/B rs9882852 - COL6A5 A8TX70 VAR_059236 p.His805Arg LB/B rs16827168 - COL6A5 A8TX70 VAR_059237 p.Asp982Gly LB/B rs11917356 - COL6A5 A8TX70 VAR_059238 p.Ile1114Met LB/B rs1353613 - COL6A5 A8TX70 VAR_059239 p.Thr1280Pro LB/B rs12488457 - COL6A5 A8TX70 VAR_059240 p.Cys1477Ser LB/B rs1497312 - COL6A5 A8TX70 VAR_059241 p.Ser1589Pro LB/B rs16827497 - COL6A5 A8TX70 VAR_061119 p.Asp2175Asn LB/B rs60021408 - COL6A6 A6NMZ7 VAR_043609 p.Glu345Lys LB/B rs4613427 - COL6A6 A6NMZ7 VAR_043610 p.Ala370Thr LB/B rs9830253 - COL6A6 A6NMZ7 VAR_043611 p.Glu461Ala LB/B rs11921769 - COL6A6 A6NMZ7 VAR_043612 p.Arg1739Gln LB/B rs16830494 - COL6A6 A6NMZ7 VAR_043613 p.His1799Arg LB/B rs7614116 - COL6A6 A6NMZ7 VAR_061120 p.Pro556Ser LB/B rs59021909 - COL7A1 Q02388 VAR_001809 p.Lys142Arg US rs121912856 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001810 p.Pro595Leu LB/B rs2228561 - COL7A1 Q02388 VAR_001811 p.Pro1277Leu LB/B rs35761247 - COL7A1 Q02388 VAR_001812 p.Gly1557Arg LP/P - Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_001813 p.Gly1782Arg LP/P rs374718902 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001814 p.Gly1982Trp LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001815 p.Gly2003Arg LP/P rs121912832 Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_001816 p.Arg2008Gly LP/P rs1055680335 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001817 p.Gly2025Ala LP/P rs766931219 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001818 p.Gly2034Arg LP/P rs121912844 Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_001818 p.Gly2034Arg LP/P rs121912844 Epidermolysis bullosa dystrophica, with subcorneal cleavage (EBDSC) [MIM:131750] COL7A1 Q02388 VAR_001819 p.Gly2040Ser LP/P rs121912829 Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_001820 p.Gly2043Arg LP/P rs121912836 Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_001821 p.Gly2049Glu LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001822 p.Gly2055Glu LP/P rs1553854678 Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_001823 p.Arg2063Trp LP/P rs121912849 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001825 p.Gly2073Asp LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001826 p.Gly2076Asp LP/P rs121912850 Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_001827 p.Gly2079Glu LP/P - Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_001828 p.Gly2242Arg LP/P rs121912837 Epidermolysis bullosa pruriginosa (EBP) [MIM:604129] COL7A1 Q02388 VAR_001829 p.Gly2351Arg LB/B rs1800013 - COL7A1 Q02388 VAR_001830 p.Gly2569Arg LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001831 p.Gly2575Arg LP/P rs760891216 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001832 p.Gly2623Cys LP/P rs121912831 Epidermolysis bullosa dystrophica, pretibial type (PR-DEB) [MIM:131850] COL7A1 Q02388 VAR_001833 p.Gly2653Arg LP/P rs121912851 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001834 p.Gly2671Val LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001835 p.Gly2674Arg LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001836 p.Gly2749Arg LP/P rs121912853 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001837 p.Met2798Lys LP/P rs121912828 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011160 p.Gly1347Arg LP/P rs121912833 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011161 p.Gly1519Asp LP/P rs121912835 Transient bullous dermolysis of the newborn (TBDN) [MIM:131705] COL7A1 Q02388 VAR_011162 p.Gly1522Glu LP/P rs387906605 Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011163 p.Gly1604Arg LP/P rs1560234201 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011164 p.Gly1652Arg LP/P rs1439299333 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011165 p.Gly1703Glu LP/P rs770304825 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011166 p.Arg1772Trp LP/P rs1032335328 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011167 p.Gly1776Arg LP/P - Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011168 p.Gly1791Glu LP/P rs1575450640 Epidermolysis bullosa pruriginosa (EBP) [MIM:604129] COL7A1 Q02388 VAR_011169 p.Gly1812Arg LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011170 p.Gly2006Ala LP/P - Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011171 p.Gly2006Asp LP/P rs121912842 Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011172 p.Arg2008Cys LP/P rs1055680335 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011173 p.Gly2009Arg LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011174 p.Gly2015Glu LP/P rs121912843 Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011175 p.Gly2028Ala LP/P - Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011176 p.Gly2028Arg LP/P rs762162799 Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011176 p.Gly2028Arg LP/P rs762162799 Epidermolysis bullosa pruriginosa (EBP) [MIM:604129] COL7A1 Q02388 VAR_011177 p.Gly2031Ser LP/P rs121912838 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011178 p.Gly2034Trp LP/P - Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011179 p.Gly2037Glu LP/P rs121912846 Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011180 p.Gly2040Asp LP/P - Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011181 p.Gly2040Val LP/P - Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011182 p.Gly2043Trp LP/P rs121912836 Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011183 p.Gly2046Val LP/P - Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011184 p.Gly2064Arg LP/P rs866061439 Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011185 p.Gly2079Arg LP/P - Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011186 p.Gly2132Asp LP/P rs755669902 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011187 p.Gly2192Ser LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011188 p.Gly2207Arg LP/P - Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011189 p.Gly2251Glu LP/P rs121912834 Transient bullous dermolysis of the newborn (TBDN) [MIM:131705] COL7A1 Q02388 VAR_011190 p.Gly2263Val LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011191 p.Gly2287Arg LP/P rs121912839 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011192 p.Gly2316Arg LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011193 p.Gly2348Arg US - - COL7A1 Q02388 VAR_011194 p.Gly2366Ser LP/P rs1560204600 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011195 p.Gly2369Ser LP/P - Epidermolysis bullosa pruriginosa (EBP) [MIM:604129] COL7A1 Q02388 VAR_011196 p.Gly2674Asp LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011197 p.Gly2713Asp LP/P rs369591910 Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011198 p.Gly2713Arg LP/P - Epidermolysis bullosa pruriginosa (EBP) [MIM:604129] COL7A1 Q02388 VAR_011199 p.Gly2740Ala LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011200 p.Gly2775Ser LP/P rs1333259313 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011201 p.Arg2791Trp LP/P rs142566193 Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_015519 p.Gly1595Arg LP/P rs121912840 Nail disorder, non-syndromic congenital, 8 (NDNC8) [MIM:607523] COL7A1 Q02388 VAR_015520 p.Gly1815Arg LP/P rs121912841 Nail disorder, non-syndromic congenital, 8 (NDNC8) [MIM:607523] COL7A1 Q02388 VAR_033786 p.Pro2429Leu LB/B rs2229822 - COL7A1 Q02388 VAR_035740 p.Thr119Pro US - A breast cancer sample COL7A1 Q02388 VAR_035741 p.Pro1364Thr US - A breast cancer sample COL7A1 Q02388 VAR_035742 p.Arg1366Trp US rs147089666 A breast cancer sample COL7A1 Q02388 VAR_048766 p.Arg1120Lys LB/B rs2228563 - COL7A1 Q02388 VAR_064994 p.Gly1845Arg LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_064995 p.Lys1981Arg LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_064996 p.Arg2069Cys LP/P rs121912855 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_064997 p.Gly2070Arg LP/P - Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_064998 p.Gly2221Ala LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_064999 p.Gly2296Glu LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_065000 p.Gly2557Arg LP/P - Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_065001 p.Arg2622Trp LP/P rs139318843 Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] COL8A2 P25067 VAR_017893 p.Gly3Arg LB/B rs115156902 - COL8A2 P25067 VAR_017894 p.Arg155Gln LB/B rs75864656 - COL8A2 P25067 VAR_017895 p.Arg304Gln LP/P rs369487110 Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800] COL8A2 P25067 VAR_017896 p.Gly357Arg US rs199786966 Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800] COL8A2 P25067 VAR_017897 p.Arg434His LP/P rs201235688 Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800] COL8A2 P25067 VAR_017898 p.Gln455Lys LP/P rs80358191 Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800] COL8A2 P25067 VAR_017898 p.Gln455Lys LP/P rs80358191 Corneal dystrophy, posterior polymorphous, 2 (PPCD2) [MIM:609140] COL8A2 P25067 VAR_017899 p.Pro575Leu US rs145553904 Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800] COL8A2 P25067 VAR_017900 p.Thr645Ile LB/B rs200767854 - COL8A2 P25067 VAR_021387 p.Thr502Met LB/B rs117860804 - COL9A1 P20849 VAR_023326 p.Arg870Lys LB/B rs1056921 - COL9A1 P20849 VAR_023327 p.Val882Leu LB/B rs1056923 - COL9A1 P20849 VAR_026463 p.Ser339Pro LB/B rs592121 - COL9A1 P20849 VAR_026464 p.Gln621Arg LB/B rs1135056 - COL9A1 P20849 VAR_055668 p.Glu684Lys LB/B rs35470562 - COL9A1 P20849 VAR_055669 p.Met767Val LB/B rs6910140 - COL9A2 Q14055 VAR_012658 p.Gln326Trp LP/P rs137853213 Intervertebral disc disease (IDD) [MIM:603932] COL9A2 Q14055 VAR_012659 p.Gln326Arg LB/B rs2228564 - COL9A2 Q14055 VAR_020014 p.Val581Ile LB/B rs3737821 - COL9A2 Q14055 VAR_026465 p.Thr246Met LB/B rs2228565 - COL9A2 Q14055 VAR_026466 p.Leu335Val LB/B rs2228567 - COL9A3 Q14050 VAR_026467 p.Arg103Gln LB/B rs142639450 - COL9A3 Q14050 VAR_026468 p.Arg103Trp LB/B rs61734651 - COL9A3 Q14050 VAR_026469 p.Pro296Leu LB/B rs45628843 - COL9A3 Q14050 VAR_026470 p.Arg402Gln LB/B rs373519549 - COL9A3 Q14050 VAR_026471 p.Ala435Glu LB/B rs751557 - COL9A3 Q14050 VAR_048808 p.Pro94Ser LB/B rs35908728 - COL9A3 Q14050 VAR_072736 p.Gly35Asp LP/P rs1390736361 Multiple epiphyseal dysplasia 3 (EDM3) [MIM:600969] COLEC10 Q9Y6Z7 VAR_078812 p.Cys176Trp LP/P rs773764995 3MC syndrome 3 (3MC3) [MIM:248340] COLEC11 Q9BWP8 VAR_038143 p.His219Arg LB/B rs7567833 - COLEC11 Q9BWP8 VAR_065901 p.Ser169Pro LP/P rs387907075 3MC syndrome 2 (3MC2) [MIM:265050] COLEC11 Q9BWP8 VAR_065902 p.Gly204Ser LP/P rs387907076 3MC syndrome 2 (3MC2) [MIM:265050] COLEC11 Q9BWP8 VAR_078813 p.Ala166Thr US - 3MC syndrome 2 (3MC2) [MIM:265050] COLEC12 Q5KU26 VAR_038853 p.Lys91Glu LB/B rs17855029 - COLEC12 Q5KU26 VAR_038854 p.Ile487Val LB/B rs8098850 - COLEC12 Q5KU26 VAR_038855 p.Ser522Pro LB/B rs2305025 - COLEC12 Q5KU26 VAR_038856 p.Gly606Ser LB/B rs2305027 - COLGALT1 Q8NBJ5 VAR_081752 p.Leu151Arg LP/P rs1478523191 Brain small vessel disease 3 (BSVD3) [MIM:618360] COLGALT1 Q8NBJ5 VAR_081753 p.Ala154Pro LP/P rs181844791 Brain small vessel disease 3 (BSVD3) [MIM:618360] COLGALT1 Q8NBJ5 VAR_081754 p.Gly377Arg LP/P rs1568481244 Brain small vessel disease 3 (BSVD3) [MIM:618360] COLGALT2 Q8IYK4 VAR_036978 p.Val475Ile US - A breast cancer sample COLQ Q9Y215 VAR_010133 p.Pro59Gln LP/P - Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034] COLQ Q9Y215 VAR_010134 p.Asp342Glu LP/P rs758554049 Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034] COLQ Q9Y215 VAR_010135 p.Arg410Gln LP/P rs1025361623 Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034] COLQ Q9Y215 VAR_010136 p.Tyr430Ser LP/P rs121908923 Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034] COLQ Q9Y215 VAR_010137 p.Cys444Tyr LP/P - Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034] COLQ Q9Y215 VAR_048809 p.Ser312Gly LB/B rs6782980 - COLQ Q9Y215 VAR_071710 p.Ile337Thr LP/P rs1057521153 Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034] COMMD10 Q9Y6G5 VAR_061122 p.Ile128Ser LB/B rs1129495 - COMMD2 Q86X83 VAR_028010 p.Ile113Leu LB/B rs9843784 - COMMD2 Q86X83 VAR_028011 p.Gln177His LB/B rs1546732 - COMMD3 Q9UBI1 VAR_061121 p.Arg18Gly LB/B rs11552445 - COMMD5 Q9GZQ3 VAR_020130 p.Ala6Thr LB/B rs1209879 - COMMD5 Q9GZQ3 VAR_048812 p.Gln69His LB/B rs421427 - COMMD6 Q7Z4G1 VAR_048813 p.His52Asn LB/B rs1063485 - COMMD8 Q9NX08 VAR_048814 p.Ala17Pro LB/B rs35444219 - COMP P49747 VAR_007614 p.Asp290Asn LP/P - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007615 p.Gly299Arg LP/P - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007616 p.Cys328Arg LP/P rs137852653 Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007617 p.Asp342Tyr LP/P rs137852652 Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_007618 p.Asp349Val LP/P - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007619 p.Asp361Val LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_007620 p.Asp361Tyr LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_007622 p.Cys371Ser LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_007625 p.Cys387Gly LP/P - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007627 p.Asp408Tyr LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_007628 p.Gly440Glu LP/P - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007629 p.Gly440Arg LP/P rs1601053997 Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007630 p.Asn453Ser LP/P rs28936668 Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_007632 p.Cys468Tyr LP/P rs137852651 Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007634 p.Asp472Tyr LP/P rs137852650 Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007635 p.Asp473Gly LP/P rs28936669 Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007637 p.Asp482Gly LP/P - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007639 p.Asp518Asn LP/P rs1359984033 Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007640 p.Asn523Lys LP/P rs137852654 Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_007641 p.Thr585Met LP/P rs312262900 Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007642 p.Thr585Arg LP/P rs312262900 Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_007642 p.Thr585Arg LP/P rs312262900 Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_016254 p.Glu50Asp LB/B - - COMP P49747 VAR_016255 p.Leu51Trp LB/B - - COMP P49747 VAR_016257 p.Ala109Gly LB/B - - COMP P49747 VAR_016258 p.Arg224Gly LB/B - - COMP P49747 VAR_016261 p.Arg285Pro LB/B - - COMP P49747 VAR_017102 p.Cys348Arg LP/P rs137852656 Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_017103 p.Gly719Asp LP/P rs137852655 Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_026239 p.Pro276Arg LP/P rs1311845746 Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_026240 p.Asp420Ala LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_046796 p.Arg381Cys LB/B rs3179763 - COMP P49747 VAR_066789 p.Gly167Glu LP/P rs763887855 Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066790 p.Pro234Ser LP/P rs557483957 Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_066791 p.Asp290Gly LP/P rs1568556118 Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_066792 p.Ser298Leu LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066793 p.Ala311Asp LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066794 p.Asp317Gly LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066795 p.Asp326Gly LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066796 p.Asp326Tyr LP/P - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_066798 p.Cys348Phe LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066800 p.Cys371Tyr LP/P rs1057521130 Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066801 p.Asp374Asn LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066802 p.Asp376Asn LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066803 p.Asp378Val LP/P - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_066804 p.Asp385Asn LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066805 p.Asp385Tyr LP/P rs1601054715 Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066807 p.Cys387Arg LP/P - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_066808 p.Asp397His LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066810 p.Gly404Arg LP/P rs2055168912 Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066811 p.Cys410Tyr LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066812 p.Asn415Lys LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066813 p.Gly427Glu LP/P - Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066815 p.Asp446Asn LP/P - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_066816 p.Cys448Ser LP/P - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_066819 p.Asp473His LP/P - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_066820 p.Asp475Asn LP/P - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_066821 p.Gly501Asp LP/P rs1555791425 Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066822 p.Asp507Gly LP/P - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_066823 p.Asp511Gly LP/P - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_066824 p.Asp515Gly LP/P - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_066825 p.Thr529Ile LP/P rs312262903 Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_066826 p.Arg718Pro LP/P rs149551600 Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066827 p.Arg718Trp LP/P rs28936368 Carpal tunnel syndrome 2 (CTS2) [MIM:619161] COMP P49747 VAR_066827 p.Arg718Trp LP/P rs28936368 Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400] COMP P49747 VAR_066828 p.Gly719Ser LP/P rs312262904 Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_066829 p.Gln756Arg LB/B rs61752496 - COMP P49747 VAR_085230 p.Val66Glu LP/P rs2055205599 Carpal tunnel syndrome 2 (CTS2) [MIM:619161] COMT P21964 VAR_005139 p.Val158Met LB/B rs4680 - COMT P21964 VAR_013925 p.Cys34Ser LB/B rs6270 - COMT P21964 VAR_013926 p.Ala72Ser LB/B rs6267 - COMT P21964 VAR_020274 p.Ala102Thr LB/B rs5031015 - COMT P21964 VAR_020275 p.Ala146Val LB/B rs4986871 - COPA P53621 VAR_033803 p.Val1040Gly LB/B rs34997807 - COPA P53621 VAR_066525 p.Ile164Val US - - COPA P53621 VAR_073844 p.Lys230Asn LP/P rs864309710 Autoimmune interstitial lung, joint, and kidney disease (AILJK) [MIM:616414] COPA P53621 VAR_073845 p.Arg233His LP/P rs794727993 Autoimmune interstitial lung, joint, and kidney disease (AILJK) [MIM:616414] COPA P53621 VAR_073846 p.Glu241Lys LP/P rs794727995 Autoimmune interstitial lung, joint, and kidney disease (AILJK) [MIM:616414] COPA P53621 VAR_073847 p.Asp243Gly LP/P rs794727994 Autoimmune interstitial lung, joint, and kidney disease (AILJK) [MIM:616414] COPB1 P53618 VAR_085552 p.Phe551Val LP/P - Baralle-Macken syndrome (BARMACS) [MIM:619255] COPB2 P35606 VAR_080601 p.Arg254Cys US rs1229568621 Microcephaly 19, primary, autosomal recessive (MCPH19) [MIM:617800] COPE O14579 VAR_054032 p.Ser13Cys LB/B rs2231987 - COPE O14579 VAR_054033 p.Thr117Ile LB/B rs10330 - COPG1 Q9Y678 VAR_054039 p.Met681Thr LB/B rs15648 - COPG2 Q9UBF2 VAR_060181 p.Ile547Leu LB/B rs10128 - COPG2 Q9UBF2 VAR_060182 p.Pro626Leu LB/B rs17333054 - COPRS Q9NQ92 VAR_043538 p.Ser43Gly LB/B rs8068049 - COQ10A Q96MF6 VAR_025703 p.Pro79His LB/B rs11543258 - COQ10A Q96MF6 VAR_048828 p.Pro231Ser LB/B rs3184994 - COQ10B Q9H8M1 VAR_033823 p.Leu48Phe LB/B rs34946819 - COQ2 Q96H96 VAR_025701 p.Tyr247Cys LP/P rs121918230 Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426] COQ2 Q96H96 VAR_068161 p.Ser96Asn LP/P rs121918233 Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426] COQ2 Q96H96 VAR_068162 p.Arg147His LP/P rs121918231 Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426] COQ2 Q96H96 VAR_068163 p.Asn178Ser LP/P rs121918232 Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426] COQ2 Q96H96 VAR_070237 p.Val16Leu LB/B rs6818847 - COQ2 Q96H96 VAR_070238 p.Pro22Leu LB/B - - COQ2 Q96H96 VAR_070239 p.Phe29Leu LP/P rs863223933 Multiple system atrophy 1 (MSA1) [MIM:146500] COQ2 Q96H96 VAR_070240 p.Pro49His LP/P rs936872920 Multiple system atrophy 1 (MSA1) [MIM:146500] COQ2 Q96H96 VAR_070241 p.Ser57Thr LP/P rs550949678 Multiple system atrophy 1 (MSA1) [MIM:146500] COQ2 Q96H96 VAR_070242 p.Arg69His LB/B rs762399579 - COQ2 Q96H96 VAR_070243 p.Met78Val LP/P rs778094136 Multiple system atrophy 1 (MSA1) [MIM:146500] COQ2 Q96H96 VAR_070244 p.Ile97Thr LP/P rs944546272 Multiple system atrophy 1 (MSA1) [MIM:146500] COQ2 Q96H96 VAR_070245 p.Pro107Ser LP/P rs1462568548 Multiple system atrophy 1 (MSA1) [MIM:146500] COQ2 Q96H96 VAR_070246 p.Ser113Phe LP/P - Multiple system atrophy 1 (MSA1) [MIM:146500] COQ2 Q96H96 VAR_070247 p.Thr267Ala LP/P rs369627290 Multiple system atrophy 1 (MSA1) [MIM:146500] COQ2 Q96H96 VAR_070248 p.Ser297Cys LP/P - Multiple system atrophy 1 (MSA1) [MIM:146500] COQ2 Q96H96 VAR_070249 p.Asn336His LB/B - - COQ2 Q96H96 VAR_070250 p.Arg337Gln LP/P rs763562410 Multiple system atrophy 1 (MSA1) [MIM:146500] COQ2 Q96H96 VAR_070251 p.Val343Ala LP/P rs148156462 Multiple system atrophy 1 (MSA1) [MIM:146500] COQ2 Q96H96 VAR_076913 p.Met132Arg LP/P - Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426] COQ2 Q96H96 VAR_076914 p.Ala252Val LP/P rs762616589 Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426] COQ2 Q96H96 VAR_078121 p.Gly340Ala US rs752608037 Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426] COQ3 Q9NZJ6 VAR_020789 p.Ser272Gly LB/B rs6925344 - COQ3 Q9NZJ6 VAR_020790 p.Tyr329His LB/B rs4144164 - COQ3 Q9NZJ6 VAR_061925 p.Lys134Glu LB/B rs11548336 - COQ4 Q9Y3A0 VAR_048829 p.Arg20Gln LB/B rs9697215 - COQ4 Q9Y3A0 VAR_054861 p.Gly50Ala LB/B rs3003601 - COQ4 Q9Y3A0 VAR_073356 p.Leu52Ser LP/P rs786204770 Coenzyme Q10 deficiency, primary, 7 (COQ10D7) [MIM:616276] COQ4 Q9Y3A0 VAR_073357 p.Pro64Ser LP/P rs766317663 Coenzyme Q10 deficiency, primary, 7 (COQ10D7) [MIM:616276] COQ4 Q9Y3A0 VAR_073358 p.Arg145Gly LP/P rs774395996 Coenzyme Q10 deficiency, primary, 7 (COQ10D7) [MIM:616276] COQ4 Q9Y3A0 VAR_073360 p.Arg240Cys LP/P rs143441644 Coenzyme Q10 deficiency, primary, 7 (COQ10D7) [MIM:616276] COQ5 Q5HYK3 VAR_025702 p.Ala152Thr LB/B rs3742049 - COQ6 Q9Y2Z9 VAR_014953 p.Val406Met LB/B rs8500 - COQ6 Q9Y2Z9 VAR_033813 p.Asp339Val LB/B rs2074930 - COQ6 Q9Y2Z9 VAR_033814 p.Thr395Met LB/B rs34746680 - COQ6 Q9Y2Z9 VAR_052691 p.Asp300Tyr LB/B rs1044640 - COQ6 Q9Y2Z9 VAR_068216 p.Gly255Arg LP/P rs1057519350 Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650] COQ6 Q9Y2Z9 VAR_068217 p.Glu287Lys LB/B rs17851169 - COQ6 Q9Y2Z9 VAR_068218 p.Ala353Asp LP/P rs397514479 Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650] COQ6 Q9Y2Z9 VAR_075225 p.Asp208His LB/B rs606231262 - COQ6 Q9Y2Z9 VAR_078122 p.Pro261Leu US rs371260604 Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650] COQ7 Q99807 VAR_055148 p.Thr103Met LB/B rs11074359 - COQ7 Q99807 VAR_076370 p.Val141Glu LP/P rs864321686 Coenzyme Q10 deficiency, primary, 8 (COQ10D8) [MIM:616733] COQ8A Q8NI60 VAR_020319 p.His85Gln LB/B rs2297411 - COQ8A Q8NI60 VAR_044402 p.Arg213Trp LP/P rs119468005 Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] COQ8A Q8NI60 VAR_044403 p.Gly272Asp LP/P rs119468006 Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] COQ8A Q8NI60 VAR_044404 p.Gly272Val LP/P rs119468006 Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] COQ8A Q8NI60 VAR_044405 p.Tyr514Cys LP/P rs119468008 Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] COQ8A Q8NI60 VAR_044406 p.Gly549Ser LP/P rs119468009 Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] COQ8A Q8NI60 VAR_044407 p.Glu551Lys LP/P rs119468004 Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] COQ8A Q8NI60 VAR_045576 p.Ile341Thr LB/B rs55798516 - COQ8A Q8NI60 VAR_072622 p.Arg271Cys LP/P rs145034527 Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] COQ8A Q8NI60 VAR_072623 p.Arg299Trp LP/P rs201908721 Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] COQ8A Q8NI60 VAR_072624 p.Ala304Thr LP/P rs778798354 Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] COQ8A Q8NI60 VAR_072625 p.Ala304Val LP/P rs748118737 Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] COQ8A Q8NI60 VAR_072626 p.Tyr429Cys LP/P rs144147839 Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] COQ8A Q8NI60 VAR_072627 p.Pro602Arg LP/P rs61995958 Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] COQ8A Q8NI60 VAR_076860 p.Phe578Val US - Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] COQ8B Q96D53 VAR_029995 p.His174Arg LB/B rs3865452 - COQ8B Q96D53 VAR_041420 p.Arg78Cys LB/B rs11538384 - COQ8B Q96D53 VAR_041421 p.Thr318Met LB/B rs55899516 - COQ8B Q96D53 VAR_041422 p.Thr352Arg LB/B rs36012476 - COQ8B Q96D53 VAR_041423 p.Thr462Met LB/B rs56083906 - COQ8B Q96D53 VAR_070552 p.Arg178Trp LP/P rs398122978 Nephrotic syndrome 9 (NPHS9) [MIM:615573] COQ8B Q96D53 VAR_070553 p.Asp286Gly LP/P rs398122979 Nephrotic syndrome 9 (NPHS9) [MIM:615573] COQ8B Q96D53 VAR_070554 p.Arg320Trp LP/P rs369573693 Nephrotic syndrome 9 (NPHS9) [MIM:615573] COQ8B Q96D53 VAR_070555 p.Arg343Trp LP/P rs398122981 Nephrotic syndrome 9 (NPHS9) [MIM:615573] COQ8B Q96D53 VAR_070556 p.Arg477Gln LP/P rs1057519347 Nephrotic syndrome 9 (NPHS9) [MIM:615573] COQ8B Q96D53 VAR_076861 p.Leu98Arg LP/P - Nephrotic syndrome 9 (NPHS9) [MIM:615573] COQ8B Q96D53 VAR_076862 p.Pro310Leu LP/P - Nephrotic syndrome 9 (NPHS9) [MIM:615573] COQ8B Q96D53 VAR_076863 p.Ala498Glu LP/P - Nephrotic syndrome 9 (NPHS9) [MIM:615573] CORIN Q9Y5Q5 VAR_038000 p.Cys13Tyr LB/B rs2289433 - CORIN Q9Y5Q5 VAR_038001 p.His525Arg LB/B rs11934749 - CORIN Q9Y5Q5 VAR_067795 p.Lys317Glu LP/P rs387906894 Pre-eclampsia/eclampsia 5 (PEE5) [MIM:614595] CORIN Q9Y5Q5 VAR_067796 p.Asp444Gly LB/B rs13105608 - CORIN Q9Y5Q5 VAR_067797 p.Ser472Gly LP/P rs387906895 Pre-eclampsia/eclampsia 5 (PEE5) [MIM:614595] CORO1A P31146 VAR_011956 p.Arg415Lys LB/B rs1804109 - CORO1A P31146 VAR_070447 p.Val134Met LP/P rs397514755 Immunodeficiency 8 with lymphoproliferation (IMD8) [MIM:615401] CORO1B Q9BR76 VAR_035877 p.Val411Met US rs756117196 A colorectal cancer sample CORO1B Q9BR76 VAR_053389 p.Arg476Leu LB/B rs2286624 - CORO2A Q92828 VAR_053390 p.Arg296His LB/B rs2231666 - CORO2A Q92828 VAR_053391 p.Arg495Leu LB/B rs35787916 - CORO2B Q9UQ03 VAR_035878 p.Pro318Leu US rs1314209013 A colorectal cancer sample CORO2B Q9UQ03 VAR_058323 p.Leu238Val LB/B rs17852400 - CORO7 P57737 VAR_057585 p.Ala174Val LB/B rs17137007 - CORO7 P57737 VAR_057586 p.Arg193Gln LB/B rs3747579 - CORO7 P57737 VAR_057587 p.Leu257Ser LB/B rs35357594 - CORO7 P57737 VAR_057588 p.Ala403Thr LB/B rs9928967 - COX10 Q12887 VAR_026562 p.Thr196Lys LP/P rs104894555 Mitochondrial complex IV deficiency, nuclear type 3 (MC4DN3) [MIM:619046] COX10 Q12887 VAR_026563 p.Asn204Lys LP/P rs104894560 Mitochondrial complex IV deficiency, nuclear type 3 (MC4DN3) [MIM:619046] COX10 Q12887 VAR_026564 p.Pro225Leu LP/P rs104894556 Mitochondrial complex IV deficiency, nuclear type 3 (MC4DN3) [MIM:619046] COX10 Q12887 VAR_026565 p.Asp336Gly LP/P rs104894557 Mitochondrial complex IV deficiency, nuclear type 3 (MC4DN3) [MIM:619046] COX10 Q12887 VAR_026566 p.Asp336Val LP/P rs104894557 Mitochondrial complex IV deficiency, nuclear type 3 (MC4DN3) [MIM:619046] COX10 Q12887 VAR_057371 p.Thr28Ile LB/B rs16948978 - COX10 Q12887 VAR_057372 p.Thr62Ser LB/B rs2230351 - COX10 Q12887 VAR_057373 p.Tyr97Cys LB/B rs16948986 - COX10 Q12887 VAR_060233 p.Arg159Gln LB/B rs2072279 - COX10 Q12887 VAR_060234 p.Gly340Asp LB/B rs1050214 - COX10 Q12887 VAR_064768 p.Leu258His LB/B rs587780911 - COX10 Q12887 VAR_076181 p.Gly288Arg LP/P rs753048807 Mitochondrial complex IV deficiency, nuclear type 3 (MC4DN3) [MIM:619046] COX10 Q12887 VAR_076182 p.Pro420Leu LP/P rs773079584 Mitochondrial complex IV deficiency, nuclear type 3 (MC4DN3) [MIM:619046] COX11 Q9Y6N1 VAR_048831 p.Pro74Leu LB/B rs34080917 - COX11 Q9Y6N1 VAR_088428 p.Ala244Pro US - Mitochondrial complex IV deficiency, nuclear type 23 (MC4DN23) [MIM:620275] COX14 Q96I36 VAR_067038 p.Met19Ile LP/P rs587776904 Mitochondrial complex IV deficiency, nuclear type 10 (MC4DN10) [MIM:619053] COX15 Q7KZN9 VAR_019596 p.Arg217Trp LP/P rs28939711 Mitochondrial complex IV deficiency, nuclear type 6 (MC4DN6) [MIM:615119] COX15 Q7KZN9 VAR_033117 p.Ser344Pro LP/P rs397514662 Mitochondrial complex IV deficiency, nuclear type 6 (MC4DN6) [MIM:615119] COX20 Q5RI15 VAR_080123 p.Thr52Pro LP/P rs587777004 Mitochondrial complex IV deficiency, nuclear type 11 (MC4DN11) [MIM:619054] COX20 Q5RI15 VAR_080124 p.Asn118Ser LB/B rs61749963 - COX4I1 P13073 VAR_002170 p.Tyr38Phe LB/B - - COX4I1 P13073 VAR_061127 p.Ala3Thr LB/B rs11557187 - COX4I1 P13073 VAR_084182 p.Pro152Thr LP/P - Mitochondrial complex IV deficiency, nuclear type 16 (MC4DN16) [MIM:619060] COX4I2 Q96KJ9 VAR_033815 p.Arg161His LB/B rs11907253 - COX4I2 Q96KJ9 VAR_058101 p.Glu138Lys LP/P rs119455950 Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714] COX5A P20674 VAR_078264 p.Arg107Cys LP/P - Mitochondrial complex IV deficiency, nuclear type 20 (MC4DN20) [MIM:619064] COX6A2 Q02221 VAR_084183 p.Ser39Arg LP/P rs1597176845 Mitochondrial complex IV deficiency, nuclear type 18 (MC4DN18) [MIM:619062] COX6A2 Q02221 VAR_084184 p.Cys43Arg LP/P rs1275864234 Mitochondrial complex IV deficiency, nuclear type 18 (MC4DN18) [MIM:619062] COX6B1 P14854 VAR_046775 p.Arg20His LP/P rs121909602 Mitochondrial complex IV deficiency, nuclear type 7 (MC4DN7) [MIM:619051] COX6B1 P14854 VAR_084178 p.Arg20Cys LP/P - Mitochondrial complex IV deficiency, nuclear type 7 (MC4DN7) [MIM:619051] COX7A2 P14406 VAR_012319 p.Glu40Asp LB/B rs769314754 - COX7B2 Q8TF08 VAR_026231 p.His27Gln LB/B rs201505906 - CP P00450 VAR_025655 p.Ile63Thr LB/B rs759185877 - CP P00450 VAR_025656 p.Pro477Leu LB/B rs35331711 - CP P00450 VAR_025657 p.Glu544Asp LB/B rs701753 - CP P00450 VAR_025658 p.Thr551Ile LB/B rs61733458 - CP P00450 VAR_025659 p.Arg793His LB/B rs115552500 - CP P00450 VAR_025660 p.Thr841Arg LB/B rs56033670 - CP P00450 VAR_032815 p.Arg367Cys LB/B rs34624984 - CPA1 P15085 VAR_048593 p.Ala208Thr LB/B rs34474469 - CPA1 P15085 VAR_054311 p.His276Arg LB/B rs17849959 - CPA2 P48052 VAR_031204 p.Glu82Gly LB/B rs17850135 - CPA3 P15088 VAR_033725 p.Thr171Met LB/B rs12489516 - CPA3 P15088 VAR_048602 p.Ala81Ser LB/B rs2270523 - CPA4 Q9UI42 VAR_020393 p.Pro157Thr LB/B rs3735051 - CPA4 Q9UI42 VAR_020394 p.Gly303Cys LB/B rs2171492 - CPA4 Q9UI42 VAR_048594 p.Leu27Phe LB/B rs34587586 - CPA4 Q9UI42 VAR_048595 p.Arg183Leu LB/B rs3735053 - CPA5 Q8WXQ8 VAR_017191 p.Pro79Ser LB/B rs17388190 - CPA5 Q8WXQ8 VAR_017192 p.Leu336Ser LB/B rs11761888 - CPA5 Q8WXQ8 VAR_017193 p.Glu338Asp LB/B rs17854248 - CPA5 Q8WXQ8 VAR_048596 p.Ser378Gly LB/B rs11765961 - CPA6 Q8N4T0 VAR_024241 p.Phe45Leu LB/B rs10957393 - CPA6 Q8N4T0 VAR_025003 p.Ser173Cys LB/B rs17853192 - CPA6 Q8N4T0 VAR_048597 p.Asn249Ser LB/B rs17343819 - CPA6 Q8N4T0 VAR_066946 p.Gly267Arg LP/P rs61738009 Epilepsy, familial temporal lobe, 5 (ETL5) [MIM:614417] CPA6 Q8N4T0 VAR_066947 p.Ala270Val LP/P rs114402678 Febrile seizures, familial, 11 (FEB11) [MIM:614418] CPAMD8 Q8IZJ3 VAR_038655 p.Arg251Trp LB/B rs10426545 - CPAMD8 Q8IZJ3 VAR_038656 p.Met265Thr LB/B rs4808551 - CPAMD8 Q8IZJ3 VAR_038657 p.Arg294Gln LB/B rs3745340 - CPAMD8 Q8IZJ3 VAR_038658 p.Asp539Glu LB/B rs3745335 - CPAMD8 Q8IZJ3 VAR_038659 p.His546Arg LB/B rs1824152 - CPAMD8 Q8IZJ3 VAR_038660 p.Pro736His LB/B rs9305083 - CPAMD8 Q8IZJ3 VAR_038661 p.Val1156Ile LB/B rs2250918 - CPAMD8 Q8IZJ3 VAR_038662 p.Thr1268Ile LB/B rs706761 - CPAMD8 Q8IZJ3 VAR_038663 p.Gln1843Arg LB/B rs1054533 - CPAMD8 Q8IZJ3 VAR_077933 p.Ser1404Pro LP/P rs1057519340 Anterior segment dysgenesis 8 (ASGD8) [MIM:617319] CPB1 P15086 VAR_048598 p.Asp208Asn LB/B rs1059502 - CPB2 Q96IY4 VAR_022258 p.Ile347Thr LB/B rs1926447 - CPB2 Q96IY4 VAR_032565 p.Ala169Thr LB/B rs3742264 - CPD O75976 VAR_027771 p.Lys36Glu LB/B rs17857300 - CPD O75976 VAR_027772 p.Glu454Gly LB/B rs17857301 - CPD O75976 VAR_027773 p.His505Asn LB/B rs17854355 - CPD O75976 VAR_027774 p.Thr899Ile LB/B rs1860543 - CPE P16870 VAR_036011 p.Arg297Gln US rs541147146 A colorectal cancer sample CPE P16870 VAR_048599 p.Trp235Arg LB/B rs34516004 - CPEB1 Q9BZB8 VAR_076388 p.Met233Ile LB/B - - CPEB3 Q8NE35 VAR_029776 p.Arg324Trp LB/B rs17853616 - CPED1 A4D0V7 VAR_038664 p.Ile326Thr LB/B rs17143165 - CPED1 A4D0V7 VAR_038665 p.Ala551Gly LB/B rs41281692 - CPED1 A4D0V7 VAR_038666 p.Glu708Gly LB/B rs35793694 - CPED1 A4D0V7 VAR_038667 p.Lys949Thr LB/B rs798911 - CPLANE1 Q9H799 VAR_042948 p.Ile1437Thr LB/B rs6859950 - CPLANE1 Q9H799 VAR_042949 p.Phe2033Cys LB/B rs10076911 - CPLANE1 Q9H799 VAR_042950 p.Ile2143Val LB/B rs6884652 - CPLANE1 Q9H799 VAR_042951 p.Pro2592Leu LB/B rs16903518 - CPLANE1 Q9H799 VAR_042952 p.Gly3062Arg LB/B rs7702892 - CPLANE1 Q9H799 VAR_068165 p.Arg1336Trp LP/P rs367543061 Joubert syndrome 17 (JBTS17) [MIM:614615] CPLANE1 Q9H799 VAR_068166 p.Pro1794Leu LB/B rs75589774 - CPLANE1 Q9H799 VAR_068167 p.Phe2033Ser LB/B rs10076911 - CPLANE1 Q9H799 VAR_072544 p.Val2837Leu LP/P - Orofaciodigital syndrome 6 (OFD6) [MIM:277170] CPLANE1 Q9H799 VAR_072553 p.Ser1127Leu LP/P rs375009168 Orofaciodigital syndrome 6 (OFD6) [MIM:277170] CPLANE1 Q9H799 VAR_072554 p.Arg1184Cys LP/P rs1434631255 Orofaciodigital syndrome 6 (OFD6) [MIM:277170] CPLANE1 Q9H799 VAR_072555 p.Arg1193Cys LP/P rs149170427 Orofaciodigital syndrome 6 (OFD6) [MIM:277170] CPLANE1 Q9H799 VAR_072556 p.Asp1287His LP/P rs606231261 Orofaciodigital syndrome 6 (OFD6) [MIM:277170] CPLANE1 Q9H799 VAR_076776 p.Trp322Gly LB/B - - CPLANE1 Q9H799 VAR_076777 p.Ser875Phe LB/B rs794727154 - CPLANE1 Q9H799 VAR_076778 p.Leu1196Arg LB/B - - CPLANE1 Q9H799 VAR_076779 p.Gln1345Arg LP/P rs869312898 Orofaciodigital syndrome 6 (OFD6) [MIM:277170] CPLANE1 Q9H799 VAR_076780 p.Ser1772Gly LB/B rs79377186 - CPLANE1 Q9H799 VAR_076781 p.Pro2750Ser LB/B rs377107065 - CPLANE1 Q9H799 VAR_077558 p.Ala1200Val US rs141153181 Orofaciodigital syndrome 6 (OFD6) [MIM:277170] CPLANE2 Q9BU20 VAR_031772 p.Glu86Gly LB/B rs17849687 - CPLANE2 Q9BU20 VAR_079173 p.Ile161Leu LB/B - - CPLX1 O14810 VAR_080797 p.Leu128Met US rs371709824 Developmental and epileptic encephalopathy 63 (DEE63) [MIM:617976] CPM P14384 VAR_048600 p.Arg24His LB/B rs7978197 - CPM P14384 VAR_048601 p.Val133Ile LB/B rs7309831 - CPN1 P15169 VAR_042415 p.Gly178Asp LP/P rs61751507 Carboxypeptidase N deficiency (CPND) [MIM:212070] CPN2 P22792 VAR_019721 p.Val536Met LB/B rs11711157 - CPN2 P22792 VAR_019722 p.Ala305Thr LB/B rs3732477 - CPN2 P22792 VAR_065186 p.Gln509Arg LB/B rs4974538 - CPNE1 Q99829 VAR_024423 p.Gln211Arg LB/B rs6579255 - CPNE1 Q99829 VAR_048846 p.Pro347Arg LB/B rs12481228 - CPNE1 Q99829 VAR_048847 p.Pro535Leu LB/B rs11543239 - CPNE3 O75131 VAR_024424 p.Thr412Met LB/B rs2304789 - CPNE3 O75131 VAR_048848 p.Glu252Asp LB/B rs41333046 - CPNE5 Q9HCH3 VAR_020358 p.Asn33Ser LB/B rs3734334 - CPNE5 Q9HCH3 VAR_021954 p.Arg582His LB/B rs3830138 - CPNE7 Q9UBL6 VAR_021955 p.Phe77Leu LB/B rs455527 - CPNE7 Q9UBL6 VAR_021956 p.Pro633Leu LB/B rs3751682 - CPNE7 Q9UBL6 VAR_033822 p.Arg397Gln LB/B rs28568523 - CPNE7 Q9UBL6 VAR_048849 p.Lys507Glu LB/B rs35731090 - CPO Q8IVL8 VAR_027850 p.Met85Ile LB/B rs13420911 - CPO Q8IVL8 VAR_027851 p.Ser134Arg LB/B rs11903403 - CPO Q8IVL8 VAR_036012 p.Lys273Asn US rs896000260 A colorectal cancer sample CPOX P36551 VAR_002152 p.Gly189Ser LP/P rs759347283 Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_002153 p.Gly197Trp LP/P - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_002154 p.Glu201Lys LP/P rs1374394802 Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_002155 p.Pro249Ser LP/P - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_002156 p.Asn272His LB/B rs1131857 - CPOX P36551 VAR_002157 p.Gly280Arg LP/P - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_002158 p.Val294Ile LB/B rs2228056 - CPOX P36551 VAR_002159 p.His295Asp LP/P rs121917870 Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_002160 p.Arg331Trp LP/P rs121917866 Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_002162 p.Lys404Glu LP/P rs121917868 Harderoporphyria (HARPO) [MIM:618892] CPOX P36551 VAR_002163 p.Trp427Arg LP/P - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_019067 p.Ser208Phe LP/P rs121917872 Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_019068 p.Arg328Cys LP/P rs121917873 Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_019069 p.Arg447Cys LP/P rs28931603 Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_023444 p.Val135Ala LP/P rs201826432 Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_023445 p.Leu214Arg LP/P - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_023446 p.Pro249Arg LP/P - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_048827 p.Arg352Cys LB/B rs11921054 - CPOX P36551 VAR_058005 p.Gly279Arg LP/P rs121917874 Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_084512 p.His327Arg LP/P rs587777271 Harderoporphyria (HARPO) [MIM:618892] CPPED1 Q9BRF8 VAR_039204 p.Ala19Asp LB/B rs3748976 - CPPED1 Q9BRF8 VAR_039205 p.Val86Ile LB/B rs3748980 - CPPED1 Q9BRF8 VAR_039206 p.Lys241Arg LB/B rs1713480 - CPPED1 Q9BRF8 VAR_039207 p.His290Pro LB/B rs11645068 - CPQ Q9Y646 VAR_037466 p.Ser138Asn LB/B rs34088584 - CPS1 P31327 VAR_006834 p.Thr344Ala LB/B rs1047883 - CPS1 P31327 VAR_006835 p.Thr544Met LP/P rs121912592 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_014077 p.His337Arg LP/P rs28940283 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_017562 p.Val457Gly LP/P rs371350538 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_017563 p.Gln810Arg LP/P rs1553513864 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_017564 p.Leu843Ser LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_017565 p.Lys875Glu LB/B rs147062907 - CPS1 P31327 VAR_017566 p.Phe1266Ser LB/B rs1047886 - CPS1 P31327 VAR_017567 p.Met1283Leu LB/B rs1047887 - CPS1 P31327 VAR_017568 p.Gly1376Ser LB/B rs140578009 - CPS1 P31327 VAR_017569 p.Thr1406Asn LB/B rs1047891 - CPS1 P31327 VAR_030675 p.Arg850His LP/P rs767694281 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_030676 p.Ser918Pro LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_061752 p.Thr344Ser LB/B rs1047883 - CPS1 P31327 VAR_063560 p.Gly79Glu LP/P rs1265394565 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063561 p.Tyr212Asn LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063562 p.Lys280Asn LP/P rs753751183 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063563 p.Ala438Pro LP/P rs772497399 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063564 p.Arg587His LP/P rs1553512642 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063565 p.Gly593Arg LP/P rs1048119191 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063566 p.Glu651Lys LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063567 p.Asn674Ile LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063568 p.Arg780His LP/P rs758724746 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063569 p.Arg850Cys LP/P rs1015051007 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063570 p.Gly982Asp LP/P rs121912595 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063571 p.Gln1103Arg LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063572 p.Val1141Gly LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063573 p.His1195Pro LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063574 p.Ile1215Val US rs141373204 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063575 p.Asn1241Lys LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_064062 p.Ser123Phe LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_064063 p.Thr471Asn LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_064064 p.Gln678Pro LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_064065 p.Pro774Leu LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_064066 p.Pro1411Leu LP/P rs1202306773 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_064067 p.Arg1453Gln LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_064068 p.Arg1453Trp LP/P rs933813349 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_064069 p.Tyr1491His LP/P rs1553519513 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066104 p.Gly301Glu LP/P rs973321068 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066105 p.Tyr389Cys LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066106 p.Leu390Arg LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066107 p.Arg718Lys LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066108 p.Arg721Gln LP/P rs752339705 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066109 p.Ala724Pro LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066110 p.Ala726Thr LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066111 p.Asp767Val LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066112 p.Met792Ile LP/P rs1553513429 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066113 p.Val978Glu LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066114 p.Gly982Val LP/P rs121912595 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066115 p.Tyr984His LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066116 p.Ile986Thr LP/P rs1553516442 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066117 p.Gly987Cys LP/P rs1553516443 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066118 p.Phe992Ser LP/P rs990390709 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066119 p.Asn1016Ser LP/P rs749238466 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066120 p.Pro1017Leu LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066121 p.Thr1022Ile LP/P rs1437651658 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066122 p.Glu1034Gly LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066123 p.His1045Arg LP/P rs1241423400 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066124 p.Gln1059Arg LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066125 p.Ala1065Glu LP/P rs770471782 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066126 p.Arg1089Cys LP/P rs1392559810 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066127 p.Ala1155Glu LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066128 p.Ala1155Val LP/P rs766125631 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066129 p.Ser1203Leu LP/P rs149518280 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066130 p.Arg1228Gln LP/P rs778117194 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066131 p.Glu1255Asp LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066132 p.Arg1262Pro LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066133 p.Arg1262Gln LP/P rs750670270 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066134 p.Asp1274His LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066135 p.Cys1327Arg LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066136 p.Gly1333Glu LP/P rs372645328 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066137 p.Arg1371Leu LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066138 p.Thr1391Met LP/P rs1392934477 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066139 p.Leu1398Val LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066140 p.Pro1439Leu LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066141 p.Pro1462Arg LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066142 p.Ala589Thr LP/P rs777233486 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066143 p.Ala640Ser LP/P rs142693704 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066144 p.Asn716Lys LP/P rs369061090 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066145 p.Arg803Cys LP/P rs201716417 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066146 p.Arg803Gly LP/P rs201716417 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066147 p.Arg803Ser LP/P rs201716417 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066148 p.Phe805Leu LP/P rs1553513861 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066149 p.Phe805Ser LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066150 p.Arg814Trp LP/P rs772782772 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066151 p.Cys816Arg LP/P rs1553513870 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066152 p.Gly911Glu LP/P rs1388955593 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066153 p.Gly911Val LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066154 p.Ser913Leu LP/P rs754706559 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066155 p.Asp914Gly LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066156 p.Asp914His LP/P rs765484849 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066157 p.Arg932Thr LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066158 p.Ala949Thr LP/P rs537170841 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066159 p.Leu958Pro LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066160 p.Tyr959Cys LP/P rs1191587211 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066161 p.Tyr962Cys LP/P rs955666400 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066162 p.Gly982Ser LP/P rs757059355 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066163 p.Ser998Phe LP/P rs1404696893 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066164 p.Ile1054Arg LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066165 p.Arg1089Leu LP/P rs1280211937 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066166 p.Ser1203Pro LP/P rs1319489001 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066167 p.Asp1205Asn LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066168 p.Ser1331Pro LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066169 p.Ala1378Thr LP/P rs1245373037 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066170 p.Thr1443Ala LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066171 p.Ala43Val LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066172 p.Gly58Asp LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066173 p.Ser65Phe LP/P rs375979196 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066174 p.Val71Gly LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066175 p.Pro87Ser LP/P rs1553509297 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066176 p.Tyr89Asp LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066177 p.Asp165Gly LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066178 p.Asp224Val LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066179 p.Arg233Cys LP/P rs767905306 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066180 p.His243Pro LP/P rs752902711 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066181 p.Gly258Glu LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066182 p.Gly263Glu LP/P rs1471393474 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066183 p.Ala304Val LP/P rs775920437 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066184 p.Gly317Glu LP/P rs1273594946 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066185 p.Asp358His LP/P rs149930500 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066186 p.Pro382Leu LP/P rs201407486 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066187 p.Gly401Arg US rs760895692 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066188 p.Gly431Arg LP/P rs778766382 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066189 p.Gly432Val LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066190 p.Ala438Thr LP/P rs772497399 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066191 p.Lys450Glu LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066192 p.Ala498Pro LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066193 p.Val531Glu LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066194 p.Val531Gly LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066195 p.Arg587Cys LP/P rs1242028775 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066196 p.Arg587Leu LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066197 p.Ser597Leu LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066198 p.Val622Met LP/P rs1553512962 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066199 p.Gly628Asp LP/P rs1275599086 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066200 p.Ile632Arg LP/P rs1553512974 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066201 p.Arg638Pro LP/P rs757205958 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066202 p.Cys648Tyr LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066203 p.Asp654Val LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066204 p.Asn674Lys LP/P rs1248368809 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_066205 p.Asn698Ser LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_070211 p.Gly530Val US rs1250316045 - CPS1 P31327 VAR_075404 p.Ser123Tyr US - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_075405 p.Arg174Trp US rs1553509661 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_075406 p.Asn355Asp LP/P rs1472190012 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_075407 p.Thr871Pro LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_075408 p.Ile937Asn LP/P rs760714614 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_075409 p.Gly964Asp LP/P rs534815243 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_075410 p.Glu1194Asp LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_075411 p.Ile1254Phe US - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_075413 p.Leu1381Ser LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_075806 p.Leu341Ser LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_075807 p.Gly661Arg LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_075808 p.Thr1167Arg LP/P - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPSF1 Q10570 VAR_083937 p.Asp1275Tyr US - Myopia 27, autosomal dominant (MYP27) [MIM:618827] CPSF3 Q9UKF6 VAR_035873 p.Asp578Asn US - A breast cancer sample CPSF3 Q9UKF6 VAR_037646 p.Glu142Gly LB/B rs17850770 - CPSF3 Q9UKF6 VAR_087333 p.Ile354Thr US rs1370670757 Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures (NEDMHS) [MIM:619876] CPSF3 Q9UKF6 VAR_087334 p.Gly468Glu LP/P rs765749321 Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures (NEDMHS) [MIM:619876] CPT1A P50416 VAR_020546 p.Arg123Cys LP/P rs80356775 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020547 p.Ala275Thr LB/B rs2229738 - CPT1A P50416 VAR_020548 p.Cys304Trp LP/P rs80356789 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020549 p.Thr314Ile LP/P rs80356776 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020550 p.Arg357Trp LP/P rs80356777 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020551 p.Glu360Gly LP/P rs80356787 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020553 p.Ala414Val LP/P rs80356790 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020554 p.Asp454Gly LP/P rs80356778 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020555 p.Pro479Leu LP/P rs80356779 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020556 p.Leu484Pro LP/P rs80356793 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020557 p.Tyr498Cys LP/P rs80356791 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020558 p.Gly709Glu LP/P rs28936374 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020559 p.Gly710Glu LP/P rs80356780 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_046767 p.Arg316Gly LP/P rs80356796 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_046768 p.Phe343Val LP/P rs80356783 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_046769 p.Gly465Trp LP/P rs80356784 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1B Q92523 VAR_011739 p.Glu531Lys LB/B rs470117 - CPT1B Q92523 VAR_011740 p.Ser664Tyr LB/B rs1804702 - CPT1B Q92523 VAR_020029 p.Ile66Val LB/B rs3213445 - CPT1B Q92523 VAR_021854 p.Gly320Asp LB/B rs2269383 - CPT1B Q92523 VAR_024188 p.Ser427Cys LB/B rs8142477 - CPT1C Q8TCG5 VAR_073433 p.Arg37Cys LP/P rs786204767 Spastic paraplegia 73, autosomal dominant (SPG73) [MIM:616282] CPT2 P23786 VAR_001391 p.Pro50His LP/P rs28936375 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_001392 p.Ser113Leu LP/P rs74315294 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_001393 p.Glu174Lys LP/P rs28936674 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_001394 p.Phe352Cys LB/B rs2229291 - CPT2 P23786 VAR_001395 p.Val368Ile LB/B rs1799821 - CPT2 P23786 VAR_001396 p.Phe383Tyr LP/P rs74315295 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_001397 p.Asp553Asn LP/P rs28936376 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_001398 p.Tyr628Ser LP/P rs28936673 Carnitine palmitoyltransferase 2 deficiency, infantile (CPT2DI) [MIM:600649] CPT2 P23786 VAR_001399 p.Arg631Cys LP/P rs74315293 Carnitine palmitoyltransferase 2 deficiency, infantile (CPT2DI) [MIM:600649] CPT2 P23786 VAR_001399 p.Arg631Cys LP/P rs74315293 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_001400 p.Met647Val LB/B rs1799822 - CPT2 P23786 VAR_007966 p.Met214Thr LP/P rs515726174 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_007967 p.Pro227Leu LP/P rs74315298 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_007968 p.Phe448Leu LP/P rs74315297 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_007969 p.Tyr479Phe LP/P rs749895856 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_007970 p.Arg503Cys LP/P rs74315296 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_007971 p.Gly549Asp LP/P rs186044004 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_011741 p.Ser588Cys LB/B rs1871748 - CPT2 P23786 VAR_020540 p.Arg151Gln LP/P rs515726177 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_020541 p.Tyr210Asp LP/P - Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_020542 p.Arg296Gln LP/P rs764849762 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_020543 p.Gln550Arg LP/P - Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_020544 p.Gly600Arg LP/P - Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_020545 p.Pro604Ser LP/P - Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_037976 p.Asp213Gly LP/P rs74315300 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] CPT2 P23786 VAR_066567 p.Pro504Leu LB/B rs368311455 - CPT2 P23786 VAR_066568 p.Val605Leu LB/B rs751557097 - CPVL Q9H3G5 VAR_022612 p.Ala435Val LB/B rs7313 - CPVL Q9H3G5 VAR_048681 p.Ser11Leu LB/B rs36074676 - CPVL Q9H3G5 VAR_048682 p.Arg25His LB/B rs34219043 - CPVL Q9H3G5 VAR_048683 p.Arg398His LB/B rs1052200 - CPXCR1 Q8N123 VAR_035218 p.Tyr3Ser LB/B rs5940915 - CPXCR1 Q8N123 VAR_035219 p.Arg131His LB/B rs5984611 - CPXM2 Q8N436 VAR_048603 p.Gln750Arg LB/B rs7088479 - CPZ Q66K79 VAR_027883 p.Leu5Pro LB/B rs2302583 - CPZ Q66K79 VAR_027884 p.Thr501Met LB/B rs9991535 - CPZ Q66K79 VAR_047244 p.Pro6Leu LB/B rs34964084 - CPZ Q66K79 VAR_047245 p.Gln130Leu LB/B rs35993494 - CPZ Q66K79 VAR_047246 p.Ile486Thr LB/B rs7378066 - CR1 P17927 VAR_013819 p.His1208Arg LB/B rs2274567 - CR1 P17927 VAR_013820 p.Thr1408Ile LB/B - - CR1 P17927 VAR_013821 p.Lys1590Glu LB/B rs17047660 - CR1 P17927 VAR_013822 p.Arg1601Gly LB/B rs17047661 - CR1 P17927 VAR_013823 p.Ser1610Thr LB/B rs4844609 - CR1 P17927 VAR_013824 p.Ile1615Val LB/B rs6691117 - CR1 P17927 VAR_013825 p.Pro1827Arg LB/B rs3811381 - CR1 P17927 VAR_013826 p.His1850Asp LB/B - - CR1 P17927 VAR_020263 p.Thr1408Met LB/B rs3737002 - CR1 P17927 VAR_055685 p.Asn1540Ser LB/B rs17259045 - CR1 P17927 VAR_055686 p.Thr1969Ala LB/B rs2296160 - CR1L Q2VPA4 VAR_038677 p.Arg116Gly LB/B rs2296158 - CR1L Q2VPA4 VAR_038678 p.Ile139Val LB/B rs3085 - CR1L Q2VPA4 VAR_038679 p.Asn402Asp LB/B rs12729569 - CR1L Q2VPA4 VAR_038680 p.Ile455Val LB/B rs6683902 - CR1L Q2VPA4 VAR_038681 p.Leu491Pro LB/B rs2796257 - CR2 P20023 VAR_016164 p.Ser639Asn LB/B rs17615 - CR2 P20023 VAR_016165 p.Ile993Val LB/B rs17618 - CR2 P20023 VAR_016166 p.Ala1003Glu LB/B rs17617 - CRACD Q6ZU35 VAR_044205 p.Leu269Ile LB/B rs6823339 - CRACD Q6ZU35 VAR_044206 p.Arg655Pro LB/B rs7672073 - CRACD Q6ZU35 VAR_044207 p.Arg710Gln LB/B rs3796546 - CRACD Q6ZU35 VAR_044208 p.Ser776Leu LB/B rs3796547 - CRACD Q6ZU35 VAR_079174 p.Glu249Gln LB/B rs1379374919 - CRACDL Q6NV74 VAR_047335 p.Ser315Cys LB/B rs3731660 - CRACR2A Q9BSW2 VAR_031483 p.Arg7Gly LB/B rs9788233 - CRACR2A Q9BSW2 VAR_031484 p.Ala98Thr LB/B rs17836273 - CRACR2A Q9BSW2 VAR_031485 p.Ala128Val LB/B rs242017 - CRACR2A Q9BSW2 VAR_031486 p.His136Pro LB/B rs34088152 - CRACR2A Q9BSW2 VAR_031487 p.Glu154Lys LB/B rs242018 - CRACR2A Q9BSW2 VAR_031488 p.His212Gln LB/B rs36030417 - CRACR2B Q8N4Y2 VAR_031479 p.Arg77Gln LB/B rs7126805 - CRACR2B Q8N4Y2 VAR_031480 p.Lys153Glu LB/B rs28558789 - CRACR2B Q8N4Y2 VAR_031481 p.Gly173Ser LB/B rs35567200 - CRACR2B Q8N4Y2 VAR_031482 p.Ser248Ile LB/B rs4075289 - CRADD P78560 VAR_067536 p.Gly128Arg LP/P rs387906861 Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly (MRT34) [MIM:614499] CRAT P43155 VAR_047780 p.Leu372Met LB/B rs3118635 - CRAT P43155 VAR_047781 p.Ala624Pro LB/B rs17459086 - CRAT P43155 VAR_080636 p.Arg321His US rs138665095 Neurodegeneration with brain iron accumulation 8 (NBIA8) [MIM:617917] CRB1 P82279 VAR_011641 p.Ala161Val LP/P rs62635651 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_011642 p.Cys250Trp LP/P rs62635652 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_011643 p.Thr745Met LP/P rs28939720 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_011643 p.Thr745Met LP/P rs28939720 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_011644 p.Arg764Cys LP/P rs62635654 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_011644 p.Arg764Cys LP/P rs62635654 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_011645 p.Cys948Tyr LP/P rs62645748 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_011645 p.Cys948Tyr LP/P rs62645748 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_011646 p.Met1041Thr LP/P rs62635656 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_011647 p.Leu1071Pro LP/P rs62635657 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_011648 p.Ile1100Arg LP/P rs62635659 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_011649 p.Cys1181Arg LP/P rs62636291 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022941 p.Phe144Val LP/P rs62636262 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022942 p.Val162Met LP/P rs137853138 Pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870] CRB1 P82279 VAR_022943 p.Cys195Phe LP/P rs764256655 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022944 p.Ile205Thr US rs62645749 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022945 p.Thr289Met LB/B rs62636263 - CRB1 P82279 VAR_022946 p.Cys383Tyr LP/P rs62645754 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022947 p.Tyr433Cys LP/P rs62636288 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022948 p.Cys480Gly LP/P - Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022949 p.Cys480Arg LP/P rs62636264 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022950 p.Val578Glu LP/P rs1266363944 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022951 p.Asp584Tyr LP/P rs1664322968 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022952 p.Cys587Tyr LP/P rs1471328495 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022953 p.Gln679Glu LB/B rs62636286 - CRB1 P82279 VAR_022954 p.Cys681Tyr LP/P rs62636266 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022955 p.Glu710Gln LP/P rs62645755 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022956 p.Met741Thr LP/P rs62636267 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022958 p.Arg769His LB/B rs62636287 - CRB1 P82279 VAR_022959 p.Arg769Gln LB/B - - CRB1 P82279 VAR_022960 p.Pro836Thr LP/P rs116471343 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022961 p.Asp837His LP/P rs62636289 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022962 p.Gly846Arg LP/P rs539189291 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022963 p.Gly850Ser LP/P rs776591659 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022963 p.Gly850Ser LP/P rs776591659 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022964 p.Ile852Thr LP/P rs62636271 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022965 p.Cys891Gly LP/P rs62635658 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022966 p.Asn894Ser US rs62636290 - CRB1 P82279 VAR_022967 p.Arg905Gln LB/B rs114052315 - CRB1 P82279 VAR_022968 p.Gly959Ser US rs557111131 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022970 p.Asn986Ile LP/P - Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022971 p.Ile989Thr LP/P - Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022972 p.Ser1025Ile LP/P rs62636274 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022973 p.Ile1100Thr LP/P rs62635659 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022974 p.Gly1103Arg LP/P rs62636275 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022974 p.Gly1103Arg LP/P rs62636275 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022975 p.Leu1107Pro LP/P rs62636276 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022976 p.Leu1107Arg LP/P rs62636276 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022976 p.Leu1107Arg LP/P rs62636276 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022977 p.Gly1205Arg LP/P rs574742644 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022978 p.Cys1218Phe LP/P - Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022979 p.Asn1317His LP/P rs62636281 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022980 p.Cys1321Ser LP/P rs62635649 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022981 p.Arg1331His LB/B rs62636285 - CRB1 P82279 VAR_022982 p.Ala1354Thr LP/P rs200469148 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022983 p.Arg1383His LP/P rs200573274 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_064180 p.Cys27Phe LP/P rs1460946384 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_064181 p.Cys1165Trp LP/P rs1665099725 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_067125 p.Cys45Trp LP/P rs145141811 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_067126 p.Cys157Ser LP/P - Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_067128 p.Glu222Lys LB/B rs114846212 - CRB1 P82279 VAR_067129 p.Cys310Tyr LB/B rs779835125 - CRB1 P82279 VAR_067130 p.Asn312Lys LP/P - Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_067131 p.Gly333Asp LP/P rs587783015 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_067132 p.Cys438Tyr LP/P rs1571522690 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_067133 p.Gly454Arg LP/P rs954595597 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_067134 p.Phe488Ser LB/B rs777377174 - CRB1 P82279 VAR_067135 p.Asp491Val US rs1664299898 - CRB1 P82279 VAR_067136 p.Leu535Pro LP/P rs113082791 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_067137 p.Asp564Tyr LP/P - Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_067138 p.Ser635Pro US - Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_067139 p.Trp675Cys LP/P - Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_067140 p.Glu710Val LP/P rs145282040 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_067141 p.Ser740Phe LP/P rs1664649015 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_067142 p.Leu753Pro LP/P rs896160584 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_067144 p.Thr821Met LB/B rs142857810 - CRB1 P82279 VAR_067145 p.Val901Ile US - Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_067146 p.Ala937Thr US rs114630940 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_067147 p.Cys939Tyr LP/P rs1411345985 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_067148 p.Ile1003Thr LP/P rs1409740542 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_067149 p.Leu1012Ser LP/P - Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_067150 p.Ser1025Asn LP/P - Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_067151 p.Thr1099Lys LP/P - Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_067152 p.Tyr1161Cys LP/P rs1414707912 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_067153 p.Cys1174Gly LP/P rs917768074 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_067153 p.Cys1174Gly LP/P rs917768074 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_067154 p.Tyr1198Cys US - - CRB1 P82279 VAR_067155 p.Cys1223Ser US - - CRB1 P82279 VAR_067156 p.Pro1305Leu LP/P rs1391910861 Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_067157 p.Cys1332Phe LP/P rs377543137 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_067158 p.Ala1365Asp US - - CRB1 P82279 VAR_067159 p.Pro1381Leu LP/P - Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_068363 p.Lys534Asn LP/P - Retinitis pigmentosa 12 (RP12) [MIM:600105] CRB1 P82279 VAR_079623 p.Leu479Pro LB/B rs963201816 - CRB1 P82279 VAR_079624 p.Arg764His US rs375040930 - CRB1 P82279 VAR_079625 p.Ala921Pro US - - CRB1 P82279 VAR_079626 p.Cys948Arg LP/P rs62645747 Leber congenital amaurosis 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_079627 p.Asp1031Asn US - - CRB2 Q5IJ48 VAR_022984 p.Pro46Leu LB/B rs73571404 - CRB2 Q5IJ48 VAR_022985 p.Val97Leu LB/B - - CRB2 Q5IJ48 VAR_022986 p.Pro116Leu LB/B rs542211566 - CRB2 Q5IJ48 VAR_022987 p.Met145Thr LB/B rs1105223 - CRB2 Q5IJ48 VAR_022988 p.Gly159Ala LB/B rs1105222 - CRB2 Q5IJ48 VAR_022989 p.Glu187Asp LB/B - - CRB2 Q5IJ48 VAR_022990 p.Ala351Thr LB/B rs199679542 - CRB2 Q5IJ48 VAR_022991 p.Arg534Gln LB/B rs370059953 - CRB2 Q5IJ48 VAR_022992 p.Arg610Trp LB/B rs145286619 - CRB2 Q5IJ48 VAR_022993 p.His746Gln LB/B rs757353722 - CRB2 Q5IJ48 VAR_022994 p.Thr1110Met LB/B rs73571431 - CRB2 Q5IJ48 VAR_048974 p.Thr90Asn LB/B rs2808415 - CRB2 Q5IJ48 VAR_061153 p.Val709Ala LB/B rs2488602 - CRB2 Q5IJ48 VAR_073266 p.Cys620Ser LP/P rs879255250 Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220] CRB2 Q5IJ48 VAR_073267 p.Arg628Cys LP/P rs202128397 Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220] CRB2 Q5IJ48 VAR_073268 p.Cys629Ser LP/P rs879255252 Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220] CRB2 Q5IJ48 VAR_073269 p.Arg633Trp LP/P rs730880377 Ventriculomegaly with cystic kidney disease (VMCKD) [MIM:219730] CRB2 Q5IJ48 VAR_073270 p.Glu643Ala US rs730880300 Ventriculomegaly with cystic kidney disease (VMCKD) [MIM:219730] CRB2 Q5IJ48 VAR_073271 p.Asn800Lys US rs765676223 - CRB2 Q5IJ48 VAR_073272 p.Arg1249Gln LP/P rs147412276 Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220] CRB2 Q5IJ48 VAR_084123 p.Trp498Cys US rs144803819 Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220] CRB2 Q5IJ48 VAR_084124 p.Ala654Pro US rs372093386 - CRB2 Q5IJ48 VAR_084126 p.Gly839Trp US - Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220] CRB2 Q5IJ48 VAR_084127 p.Thr902Met US rs1463148582 Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220] CRB2 Q5IJ48 VAR_084128 p.Pro1064Ser US rs868484209 Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220] CRB2 Q5IJ48 VAR_084129 p.Asp1076Ala US - Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220] CRB2 Q5IJ48 VAR_084131 p.Arg1115Cys US rs1219047251 Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220] CRB2 Q5IJ48 VAR_084132 p.Cys1129Arg US - Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220] CRB2 Q5IJ48 VAR_084133 p.Asn1184Thr US - Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220] CRB2 Q5IJ48 VAR_084134 p.Arg1249Gly US - Retinitis pigmentosa (RP) [MIM:268000] CRBN Q96SW2 VAR_079409 p.Cys391Arg LP/P rs797045036 Intellectual developmental disorder, autosomal recessive 2 (MRT2) [MIM:607417] CRCT1 Q9UGL9 VAR_050906 p.Cys96Tyr LB/B rs16834168 - CREB1 P16220 VAR_068077 p.Asp102Gly LB/B rs387906617 - CREB3L1 Q96BA8 VAR_032392 p.Ala411Thr LB/B rs35652107 - CREB3L2 Q70SY1 VAR_062386 p.Val130Ile LB/B rs273957 - CREB3L3 Q68CJ9 VAR_085796 p.Gly105Arg LB/B - - CREB3L3 Q68CJ9 VAR_085797 p.Pro166Leu US rs775653860 Hypertriglyceridemia 2 (HYTG2) [MIM:619324] CREB3L3 Q68CJ9 VAR_085798 p.Val180Met US rs548714946 Hypertriglyceridemia 2 (HYTG2) [MIM:619324] CREB3L3 Q68CJ9 VAR_085799 p.Asp182Asn US rs140312652 Hypertriglyceridemia 2 (HYTG2) [MIM:619324] CREB3L3 Q68CJ9 VAR_085800 p.Glu240Lys LP/P rs778428363 Hypertriglyceridemia 2 (HYTG2) [MIM:619324] CREB3L4 Q8TEY5 VAR_048444 p.Pro95Ser LB/B rs11264743 - CREBBP Q92793 VAR_015578 p.Arg1378Pro LP/P rs121434626 Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_027953 p.Val1414Ile LB/B rs130015 - CREBBP Q92793 VAR_035080 p.Glu1278Lys LP/P rs267606752 Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_035081 p.Thr1447Ile LP/P - Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_035082 p.Tyr1450His LP/P rs1555473499 Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_035083 p.His1470Arg LP/P rs797044860 Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_035084 p.Arg1664His LP/P rs1596791996 Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_037305 p.Tyr1175Cys LP/P rs28937315 Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_072912 p.Gln503His LB/B rs748447855 - CREBBP Q92793 VAR_072913 p.Pro532Thr LB/B rs902901184 - CREBBP Q92793 VAR_072914 p.Ile546Asn LB/B - - CREBBP Q92793 VAR_072915 p.Tyr650Phe LP/P - Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_072916 p.Ala789Thr LP/P rs746728741 Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_072917 p.Thr910Ala LP/P rs143247685 Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_072918 p.Glu1278Ala LP/P - Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_072919 p.Asp1406Tyr LP/P rs2052153254 Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_072920 p.Gln1415Pro LP/P - Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_072921 p.Pro1475Thr LP/P - Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_072922 p.Tyr1503Phe LP/P - Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_072923 p.Leu1507Pro LP/P rs1057520191 Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_072924 p.Asp1543Asn LP/P - Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_078557 p.Cys1710Arg LP/P rs1567265203 Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332] CREBBP Q92793 VAR_078558 p.Leu1747Arg LP/P - Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332] CREBBP Q92793 VAR_078559 p.Arg1786Pro LP/P - Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332] CREBBP Q92793 VAR_078560 p.Cys1819Phe LP/P - Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332] CREBBP Q92793 VAR_078561 p.Cys1826Trp LP/P - Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332] CREBBP Q92793 VAR_078562 p.Cys1838Tyr LP/P - Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332] CREBBP Q92793 VAR_078563 p.Arg1867Gln LP/P rs1131691326 Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332] CREBBP Q92793 VAR_078564 p.Arg1867Trp LP/P - Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332] CREBBP Q92793 VAR_078565 p.Arg1868Trp LP/P rs886039491 Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332] CREBBP Q92793 VAR_078566 p.Met1872Val LP/P rs797045037 Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332] CREBBP Q92793 VAR_081979 p.His1719Asp LP/P - Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332] CREBBP Q92793 VAR_081980 p.Glu1724Lys LP/P rs1567265131 Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332] CREBBP Q92793 VAR_081981 p.Ala1782Val LP/P rs2051858361 Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332] CREBBP Q92793 VAR_081982 p.His1829Asp LP/P - Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332] CREBBP Q92793 VAR_081984 p.Arg1868Gln LP/P rs1567263168 Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332] CREBBP Q92793 VAR_081985 p.Ala1870Pro LP/P - Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332] CREBRF Q8IUR6 VAR_034795 p.Thr483Ala LB/B rs17854147 - CREG2 Q8IUH2 VAR_021252 p.Pro96Gln LB/B rs11554173 - CRELD1 Q96HD1 VAR_023764 p.Arg107His LP/P rs28941780 Atrioventricular septal defect 2 (AVSD2) [MIM:606217] CRELD1 Q96HD1 VAR_023765 p.Pro162Ala LP/P rs121912626 Atrioventricular septal defect 2 (AVSD2) [MIM:606217] CRELD1 Q96HD1 VAR_023766 p.Thr311Ile LP/P rs28942092 Atrioventricular septal defect 2 (AVSD2) [MIM:606217] CRELD1 Q96HD1 VAR_023767 p.Arg329Cys LP/P rs28942091 Atrioventricular septal defect 2 (AVSD2) [MIM:606217] CRELD1 Q96HD1 VAR_046653 p.Met13Val LB/B rs279552 - CRELD1 Q96HD1 VAR_046654 p.Pro128Arg LB/B rs2302787 - CRELD2 Q6UXH1 VAR_028892 p.Asp182Glu LB/B rs8139422 - CRELD2 Q6UXH1 VAR_028893 p.Ser295Ala LB/B rs11545762 - CRELD2 Q6UXH1 VAR_028894 p.Glu325Gly LB/B rs11545763 - CREM Q03060 VAR_055561 p.Gln254Arg LB/B rs1804604 - CRH P06850 VAR_075504 p.Pro30Arg US rs748404250 - CRHR2 Q13324 VAR_049455 p.Glu220Asp LB/B rs34625936 - CRIM1 Q9NZV1 VAR_050907 p.Glu502Lys LB/B rs12997487 - CRIM1 Q9NZV1 VAR_061625 p.Val781Ile LB/B rs59929305 - CRIPT Q9P021 VAR_078425 p.Cys3Tyr LP/P rs757078301 Short stature with microcephaly and distinctive facies (SSMCF) [MIM:615789] CRIPTO P13385 VAR_021903 p.Tyr43Asp LB/B rs2293025 - CRIPTO P13385 VAR_024262 p.Val22Ala LB/B rs11130097 - CRIPTO P13385 VAR_048975 p.Arg111Gly LB/B rs34501971 - CRISP2 P16562 VAR_048832 p.Asn131Ser LB/B rs34457011 - CRISP3 P54108 VAR_011718 p.Ser106Pro LB/B rs495335 - CRISP3 P54108 VAR_011719 p.Ala134Ser LB/B rs1864312 - CRISPLD1 Q9H336 VAR_027255 p.Ala286Ser LB/B rs1945 - CRISPLD2 Q9H0B8 VAR_027256 p.Ser105Gly LB/B rs12051468 - CRISPLD2 Q9H0B8 VAR_027257 p.Thr322Ser LB/B rs721005 - CRISPLD2 Q9H0B8 VAR_074672 p.Asp137Gly LB/B rs1297496215 - CRLF1 O75462 VAR_017865 p.Arg81His LP/P rs104894670 Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] CRLF1 O75462 VAR_017866 p.Leu374Arg LP/P rs104894668 Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] CRLF1 O75462 VAR_028355 p.Arg176Lys LB/B rs11672248 - CRLF1 O75462 VAR_033113 p.Trp76Gly LP/P rs137853143 Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] CRLF1 O75462 VAR_070817 p.Leu74Pro LP/P rs1295488778 Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] CRLF1 O75462 VAR_070818 p.Tyr75Asp LP/P - Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] CRLF1 O75462 VAR_070819 p.Asn113Ile LP/P - Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] CRLF1 O75462 VAR_070820 p.Leu114Pro LP/P rs774359694 Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] CRLF1 O75462 VAR_070821 p.Pro138Leu LP/P rs137853930 Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] CRLF1 O75462 VAR_070822 p.Ser145Pro LP/P - Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] CRLF1 O75462 VAR_070823 p.Arg216Cys LP/P rs556029569 Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] CRLF1 O75462 VAR_070824 p.Phe268Ser LP/P rs761982168 Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] CRLF1 O75462 VAR_070825 p.Trp284Cys LP/P rs137853927 Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] CRLF1 O75462 VAR_070826 p.Arg312Pro LP/P rs137853933 Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] CRLF1 O75462 VAR_070827 p.Arg340Cys LP/P rs771459625 Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] CRLF3 Q8IUI8 VAR_032539 p.Leu389Pro LB/B rs11867457 - CRLF3 Q8IUI8 VAR_049180 p.Val202Met LB/B rs3764418 - CRLS1 Q9UJA2 VAR_087984 p.Ile109Asn LP/P rs1568615047 Combined oxidative phosphorylation deficiency 57 (COXPD57) [MIM:620167] CRLS1 Q9UJA2 VAR_087985 p.Ala172Asp US rs759395960 Combined oxidative phosphorylation deficiency 57 (COXPD57) [MIM:620167] CRLS1 Q9UJA2 VAR_087986 p.Leu217Phe US rs764608497 Combined oxidative phosphorylation deficiency 57 (COXPD57) [MIM:620167] CRMP1 Q14194 VAR_037745 p.Val461Ile LB/B rs34611001 - CRNKL1 Q9BZJ0 VAR_024995 p.Gly35Arg LB/B rs7508949 - CRNKL1 Q9BZJ0 VAR_049318 p.Phe51Leu LB/B rs2273058 - CRNKL1 Q9BZJ0 VAR_049319 p.Gln111His LB/B rs2255258 - CRNKL1 Q9BZJ0 VAR_049320 p.Thr158Ala LB/B rs2255255 - CRNKL1 Q9BZJ0 VAR_049321 p.Val843Ile LB/B rs35201190 - CRNN Q9UBG3 VAR_048469 p.Ala27Val LB/B rs35639220 - CRNN Q9UBG3 VAR_048470 p.Gln374His LB/B rs6695830 - CRNN Q9UBG3 VAR_048471 p.Gly480Ser LP/P rs3829868 Esophageal cancer (ESCR) [MIM:133239] CROCC Q5TZA2 VAR_059628 p.Ala439Val LB/B rs4463721 - CROCC Q5TZA2 VAR_059629 p.Asp586His LB/B rs9435714 - CROCC Q5TZA2 VAR_059630 p.Arg1097Pro LB/B rs6669627 - CROCC Q5TZA2 VAR_061626 p.Gly7Arg LB/B rs6586566 - CROCC Q5TZA2 VAR_061627 p.Arg372Gln LB/B rs57442576 - CROCC Q5TZA2 VAR_083473 p.Arg1216Trp LB/B rs749003874 - CROCC Q5TZA2 VAR_083474 p.Arg1866Cys LB/B rs374780265 - CROT Q9UKG9 VAR_048612 p.Arg94His LB/B rs3827653 - CROT Q9UKG9 VAR_048613 p.Val474Leu LB/B rs7785206 - CRPPA A4D126 VAR_068101 p.Ala122Pro LP/P rs387907162 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643] CRPPA A4D126 VAR_068102 p.Arg126His LP/P rs752817129 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643] CRPPA A4D126 VAR_068103 p.Ala216Asp LP/P rs387907160 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643] CRPPA A4D126 VAR_069741 p.Asp156Asn LP/P rs397514547 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643] CRPPA A4D126 VAR_069742 p.Met213Arg LP/P rs397515408 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643] CRPPA A4D126 VAR_069743 p.Tyr226His LP/P rs1282788711 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643] CRPPA A4D126 VAR_069744 p.Thr238Ile LP/P rs397515409 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643] CRPPA A4D126 VAR_071955 p.Gly54Ala LP/P rs587777797 Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7) [MIM:616052] CRPPA A4D126 VAR_078948 p.Pro149Leu LP/P rs369219851 Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7) [MIM:616052] CRPPA A4D126 VAR_078949 p.Arg205His LP/P rs566179705 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643] CRPPA A4D126 VAR_078951 p.Tyr226Cys LP/P rs1289931198 Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7) [MIM:616052] CRPPA A4D126 VAR_078970 p.Ala53Thr LP/P - Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7) [MIM:616052] CRTAC1 Q9NQ79 VAR_048972 p.Ala253Thr LB/B rs35853031 - CRTAC1 Q9NQ79 VAR_048973 p.Val569Met LB/B rs2297935 - CRTAC1 Q9NQ79 VAR_061152 p.Glu658Lys LB/B rs56007204 - CRTAM O95727 VAR_032999 p.Lys321Arg LB/B rs2272094 - CRTAM O95727 VAR_033000 p.Ala368Gly LB/B rs1916036 - CRTAM O95727 VAR_049868 p.Glu16Ala LB/B rs35411582 - CRTAM O95727 VAR_049869 p.Ala78Asp LB/B rs34397316 - CRTAM O95727 VAR_049870 p.Asp173Gly LB/B rs35136295 - CRTAP O75718 VAR_032846 p.Glu137Asp LB/B rs17850371 - CRTAP O75718 VAR_053050 p.Leu261Val LB/B rs1135127 - CRTAP O75718 VAR_054442 p.Leu67Pro LP/P rs72659358 Osteogenesis imperfecta 7 (OI7) [MIM:610682] CRTAP O75718 VAR_063599 p.Ala13Glu LP/P rs137853938 Osteogenesis imperfecta 7 (OI7) [MIM:610682] CRTAP O75718 VAR_063600 p.Lys157Glu LP/P rs137853942 Osteogenesis imperfecta 7 (OI7) [MIM:610682] CRTC1 Q6UUV9 VAR_053934 p.Thr286Ala LB/B rs3746266 - CRTC1 Q6UUV9 VAR_053935 p.Val311Ile LB/B rs36070283 - CRTC1 Q6UUV9 VAR_053936 p.Thr328Ala LB/B rs3746266 - CRTC2 Q53ET0 VAR_038756 p.Met147Val LB/B rs11264680 - CRTC2 Q53ET0 VAR_038757 p.Arg379Cys LB/B rs150423770 - CRTC3 Q6UUV7 VAR_038758 p.Ser72Asn LB/B rs8033595 - CRTC3 Q6UUV7 VAR_038759 p.Leu346Ser LB/B - - CRX O43186 VAR_003750 p.Arg41Trp LP/P rs104894672 Cone-rod dystrophy 2 (CORD2) [MIM:120970] CRX O43186 VAR_003751 p.Glu80Ala LP/P rs104894671 Cone-rod dystrophy 2 (CORD2) [MIM:120970] CRX O43186 VAR_007946 p.Arg41Gln LP/P rs61748436 Retinitis pigmentosa (RP) [MIM:268000] CRX O43186 VAR_007948 p.Ala158Thr LB/B rs61748445 - CRX O43186 VAR_007949 p.Val242Met LP/P rs61748459 Cone-rod dystrophy 2 (CORD2) [MIM:120970] CRX O43186 VAR_008282 p.Gly122Asp LB/B rs61748441 - CRX O43186 VAR_008714 p.Arg90Trp LP/P rs104894673 Leber congenital amaurosis 7 (LCA7) [MIM:613829] CRX O43186 VAR_036438 p.Ser141Phe US rs1165723137 A breast cancer sample CRX O43186 VAR_063919 p.Lys88Asn LP/P - Leber congenital amaurosis 7 (LCA7) [MIM:613829] CRX O43186 VAR_067189 p.Glu42Lys US rs863224863 Leber congenital amaurosis 7 (LCA7) [MIM:613829] CRX O43186 VAR_067190 p.Thr154Ala LB/B rs763651232 - CRX O43186 VAR_076956 p.His10Asp LB/B rs139340178 - CRX O43186 VAR_076957 p.Val66Ile LB/B rs61748438 - CRX O43186 VAR_076958 p.Arg115Gln US rs750727986 Retinitis pigmentosa (RP) [MIM:268000] CRYAA P02489 VAR_003819 p.Arg116Cys LP/P rs74315439 Cataract 9, multiple types (CTRCT9) [MIM:604219] CRYAA P02489 VAR_036564 p.Asp105His US - A breast cancer sample CRYAA P02489 VAR_038375 p.Arg49Cys LP/P rs74315441 Cataract 9, multiple types (CTRCT9) [MIM:604219] CRYAA P02489 VAR_046892 p.Arg21Leu LP/P - Cataract 9, multiple types (CTRCT9) [MIM:604219] CRYAA P02489 VAR_046893 p.Arg116His LP/P rs121912973 Cataract 9, multiple types (CTRCT9) [MIM:604219] CRYAA P02489 VAR_070032 p.Arg12Cys LP/P rs397515624 Cataract 9, multiple types (CTRCT9) [MIM:604219] CRYAA P02489 VAR_084769 p.Arg12Leu LP/P - Cataract 9, multiple types (CTRCT9) [MIM:604219] CRYAA P02489 VAR_084770 p.Arg21Gln LP/P rs397515626 Cataract 9, multiple types (CTRCT9) [MIM:604219] CRYAA P02489 VAR_084771 p.Arg21Trp LP/P rs397515625 Cataract 9, multiple types (CTRCT9) [MIM:604219] CRYAA P02489 VAR_084772 p.Arg54Cys US rs397515623 Cataract 9, multiple types (CTRCT9) [MIM:604219] CRYAA P02489 VAR_084773 p.Arg54Leu US - Cataract 9, multiple types (CTRCT9) [MIM:604219] CRYAA P02489 VAR_084774 p.Arg54Pro US - Cataract 9, multiple types (CTRCT9) [MIM:604219] CRYAA P02489 VAR_084775 p.Arg65Gln US rs199640007 Cataract 9, multiple types (CTRCT9) [MIM:604219] CRYAA P02489 VAR_084776 p.Phe71Leu US - Cataract 9, multiple types (CTRCT9) [MIM:604219] CRYAA P02489 VAR_084777 p.Gly98Arg LP/P rs398122947 Cataract 9, multiple types (CTRCT9) [MIM:604219] CRYAA P02489 VAR_084780 p.Arg119His US rs760170206 Cataract 9, multiple types (CTRCT9) [MIM:604219] CRYAA P02489 VAR_084781 p.Leu139Pro LP/P - Cataract 9, multiple types (CTRCT9) [MIM:604219] CRYAB P02511 VAR_007899 p.Arg120Gly LP/P rs104894201 Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] CRYAB P02511 VAR_014607 p.Ser41Tyr LB/B rs2234703 - CRYAB P02511 VAR_014608 p.Pro51Leu LB/B rs2234704 - CRYAB P02511 VAR_069528 p.Asp109His LP/P rs387907339 Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] CRYAB P02511 VAR_070035 p.Gly154Ser LP/P rs150516929 Cardiomyopathy, dilated, 1II (CMD1II) [MIM:615184] CRYAB P02511 VAR_070036 p.Arg157His LP/P rs141638421 Cardiomyopathy, dilated, 1II (CMD1II) [MIM:615184] CRYAB P02511 VAR_079841 p.Asp109Gly LB/B rs1114167341 - CRYAB P02511 VAR_084806 p.Arg69Cys US rs139750142 Cataract 16, multiple types (CTRCT16) [MIM:613763] CRYAB P02511 VAR_084807 p.Ala171Thr US rs370803064 Cataract 16, multiple types (CTRCT16) [MIM:613763] CRYBA2 P53672 VAR_070029 p.Val50Met LP/P - Cataract 42 (CTRCT42) [MIM:115900] CRYBA2 P53672 VAR_070208 p.Pro7Ser LB/B rs141631259 - CRYBA4 P53673 VAR_014903 p.Thr84Met LB/B rs4277 - CRYBA4 P53673 VAR_029528 p.Leu69Pro LP/P rs74315487 Cataract 23, multiple types (CTRCT23) [MIM:610425] CRYBA4 P53673 VAR_029529 p.Phe94Ser LP/P rs74315486 Cataract 23, multiple types (CTRCT23) [MIM:610425] CRYBA4 P53673 VAR_033824 p.Val36Met LB/B rs35520672 - CRYBA4 P53673 VAR_078868 p.Gly64Trp LP/P rs1114167427 Cataract 23, multiple types (CTRCT23) [MIM:610425] CRYBB1 P53674 VAR_065296 p.Ser129Arg LB/B rs1114167433 - CRYBB1 P53674 VAR_070030 p.Val96Phe LP/P - Cataract 17, multiple types (CTRCT17) [MIM:611544] CRYBB1 P53674 VAR_084783 p.Asp170Tyr US - Cataract 17, multiple types (CTRCT17) [MIM:611544] CRYBB1 P53674 VAR_084786 p.Arg230Cys US rs762942964 Cataract 17, multiple types (CTRCT17) [MIM:611544] CRYBB2 P43320 VAR_038431 p.Ala65Ser LB/B rs16986560 - CRYBB2 P43320 VAR_084787 p.Val146Leu US - Cataract 3, multiple types (CTRCT3) [MIM:601547] CRYBB2 P43320 VAR_084788 p.Gly149Val US - Cataract 3, multiple types (CTRCT3) [MIM:601547] CRYBB2 P43320 VAR_084790 p.Gln155Lys US - Cataract 3, multiple types (CTRCT3) [MIM:601547] CRYBB2 P43320 VAR_084791 p.Arg188Leu US - Cataract 3, multiple types (CTRCT3) [MIM:601547] CRYBB3 P26998 VAR_025277 p.Arg105Gln LB/B rs17670506 - CRYBB3 P26998 VAR_025278 p.His113Asp LB/B rs9608378 - CRYBB3 P26998 VAR_025279 p.Val159Ile LB/B rs4455261 - CRYBB3 P26998 VAR_025280 p.Gly165Arg LP/P rs74315490 Cataract 22, multiple types (CTRCT22) [MIM:609741] CRYBB3 P26998 VAR_070031 p.Val194Glu LP/P rs587777601 Cataract 22, multiple types (CTRCT22) [MIM:609741] CRYBB3 P26998 VAR_084792 p.Arg75His US rs183587921 Cataract 22, multiple types (CTRCT22) [MIM:609741] CRYBG1 Q9Y4K1 VAR_055687 p.Gly267Asp LB/B rs11968933 - CRYBG1 Q9Y4K1 VAR_055688 p.Gln293Pro LB/B rs1159148 - CRYBG1 Q9Y4K1 VAR_055689 p.Cys491Arg LB/B rs3747787 - CRYBG1 Q9Y4K1 VAR_055690 p.Leu1096Val LB/B rs1350902 - CRYBG1 Q9Y4K1 VAR_055691 p.Glu1196Ala LB/B rs783396 - CRYBG1 Q9Y4K1 VAR_055692 p.Cys1395Tyr LB/B rs2297970 - CRYBG1 Q9Y4K1 VAR_055693 p.Thr1445Ser LB/B rs1676015 - CRYBG2 Q8N1P7 VAR_048835 p.Ser1294Asn LB/B rs10751735 - CRYBG3 Q68DQ2 VAR_039906 p.Arg2381His LB/B rs11918990 - CRYBG3 Q68DQ2 VAR_039907 p.Tyr2709Cys LB/B rs17302349 - CRYBG3 Q68DQ2 VAR_039908 p.Asn2874His LB/B rs4857302 - CRYGA P11844 VAR_021139 p.Pro148Leu LB/B rs763049410 - CRYGA P11844 VAR_084796 p.Ser40Cys US rs371745828 - CRYGA P11844 VAR_084797 p.Arg80His US rs139353014 - CRYGB P07316 VAR_021140 p.Ser73Ile LB/B - - CRYGB P07316 VAR_021141 p.Ile111Leu LB/B rs796287 - CRYGB P07316 VAR_029517 p.Arg90Thr LB/B rs2241980 - CRYGC P07315 VAR_021142 p.Thr5Pro LP/P rs104893618 Cataract 2, multiple types (CTRCT2) [MIM:604307] CRYGC P07315 VAR_021143 p.Arg48His LB/B rs61751949 - CRYGC P07315 VAR_021144 p.Arg168Trp US rs28931604 Cataract 2, multiple types (CTRCT2) [MIM:604307] CRYGC P07315 VAR_038432 p.Phe6Leu LB/B rs2242072 - CRYGC P07315 VAR_067212 p.Gly129Cys LP/P rs137853924 Cataract 2, multiple types (CTRCT2) [MIM:604307] CRYGC P07315 VAR_084798 p.Ser78Phe US - Cataract 2, multiple types (CTRCT2) [MIM:604307] CRYGD P07320 VAR_010733 p.Arg15Cys LP/P rs121909595 Cataract 4, multiple types (CTRCT4) [MIM:115700] CRYGD P07320 VAR_010734 p.Arg37Ser LP/P rs121909597 Cataract 4, multiple types (CTRCT4) [MIM:115700] CRYGD P07320 VAR_010735 p.Arg59His LP/P rs121909596 Cataract 4, multiple types (CTRCT4) [MIM:115700] CRYGD P07320 VAR_021145 p.Pro24Thr US rs28931605 Cataract 4, multiple types (CTRCT4) [MIM:115700] CRYGD P07320 VAR_021146 p.Met102Val LB/B - - CRYGD P07320 VAR_034955 p.Pro24Ser LP/P rs28931605 Cataract 4, multiple types (CTRCT4) [MIM:115700] CRYGD P07320 VAR_034956 p.Glu107Ala LP/P - Cataract 4, multiple types (CTRCT4) [MIM:115700] CRYGD P07320 VAR_064829 p.Trp43Arg LP/P - Cataract 4, multiple types (CTRCT4) [MIM:115700] CRYGD P07320 VAR_084800 p.Ala36Pro US - Cataract 4, multiple types (CTRCT4) [MIM:115700] CRYGD P07320 VAR_084801 p.Leu45Pro US rs28931605 Cataract 4, multiple types (CTRCT4) [MIM:115700] CRYGS P22914 VAR_069797 p.Gly18Val LP/P rs104893736 Cataract 20, multiple types (CTRCT20) [MIM:116100] CRYGS P22914 VAR_084794 p.Asp26Gly US rs143507827 Cataract 20, multiple types (CTRCT20) [MIM:116100] CRYGS P22914 VAR_084795 p.Ser39Cys US rs1184398243 Cataract 20, multiple types (CTRCT20) [MIM:116100] CRYM Q14894 VAR_073781 p.Lys314Thr LP/P rs104894512 Deafness, autosomal dominant, 40 (DFNA40) [MIM:616357] CRYZ Q08257 VAR_022913 p.Pro66Ser LB/B rs11551729 - CRYZ Q08257 VAR_022914 p.Ile176Val LB/B rs3819946 - CRYZ Q08257 VAR_048200 p.Glu183Lys LB/B rs17095822 - CRYZL1 O95825 VAR_027835 p.Ala39Thr LB/B rs13050238 - CSAG1 Q6PB30 VAR_032868 p.Tyr28Phe LB/B rs1894359 - CSAG1 Q6PB30 VAR_047336 p.Arg62Lys LB/B rs2515848 - CSE1L P55060 VAR_029327 p.Ile754Val LB/B rs2229042 - CSE1L P55060 VAR_036558 p.Cys842Phe US - A colorectal cancer sample CSE1L P55060 VAR_048836 p.Val968Leu LB/B rs3505 - CSF1 P09603 VAR_020454 p.Leu408Pro LB/B rs1058885 - CSF1 P09603 VAR_020455 p.Ser496Phe LB/B rs12721516 - CSF1 P09603 VAR_022146 p.Ala531Val LB/B rs2229167 - CSF1 P09603 VAR_029320 p.Gly438Arg LB/B rs2229165 - CSF1 P09603 VAR_048810 p.Ser341Asn LB/B rs12565736 - CSF1 P09603 VAR_048811 p.Phe489Ser LB/B rs333971 - CSF1R P07333 VAR_011953 p.Tyr969Cys LB/B rs1801271 - CSF1R P07333 VAR_042038 p.Val32Gly LB/B rs56048668 - CSF1R P07333 VAR_042039 p.His362Arg LB/B rs10079250 - CSF1R P07333 VAR_042040 p.Gly413Ser LB/B rs34951517 - CSF1R P07333 VAR_042041 p.Leu536Val LB/B rs55942044 - CSF1R P07333 VAR_042042 p.Pro693His US - A lung squamous cell carcinoma sample CSF1R P07333 VAR_042043 p.Glu920Asp LB/B rs34030164 - CSF1R P07333 VAR_042044 p.Arg921Gln LB/B rs56059682 - CSF1R P07333 VAR_049718 p.Val279Met LB/B rs3829986 - CSF1R P07333 VAR_061290 p.Ala245Ser LB/B rs41338945 - CSF1R P07333 VAR_067397 p.Gly589Glu LP/P rs281860268 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_067398 p.Glu633Lys LP/P rs281860269 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_067399 p.Arg710His LB/B rs201569135 - CSF1R P07333 VAR_067400 p.Gly747Arg LB/B rs41355444 - CSF1R P07333 VAR_067401 p.Met766Thr LP/P rs281860270 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_067402 p.Ala770Pro LP/P rs281860271 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_067404 p.Ile775Asn LP/P rs281860273 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_067405 p.Ile794Thr LP/P rs281860274 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_067406 p.Asp837Tyr LP/P rs387906662 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_067407 p.Phe849Ser LP/P rs281860277 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_067409 p.Leu868Pro LP/P rs281860278 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_067410 p.Met875Thr LP/P rs281860279 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_067411 p.Pro878Thr LP/P rs281860280 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_072081 p.Cys653Arg LP/P rs690016559 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_072082 p.Ile843Phe LP/P rs690016558 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_072083 p.Ile906Thr LP/P rs690016560 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_083140 p.Pro132Leu LP/P rs1351319114 Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) [MIM:618476] CSF1R P07333 VAR_083143 p.His643Gln LP/P rs184499252 Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) [MIM:618476] CSF1R P07333 VAR_083144 p.Gly765Asp LP/P rs690016566 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_083145 p.Ala781Glu LP/P rs587777247 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_083146 p.Arg782His LP/P rs281860281 Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF1R P07333 VAR_083147 p.Pro824Ser LP/P - Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) [MIM:221820] CSF2 P04141 VAR_001975 p.Ile117Thr LB/B rs25882 - CSF2 P04141 VAR_013089 p.Thr115Ile LB/B rs2069640 - CSF2RA P15509 VAR_058507 p.Gly196Arg LP/P rs137852353 Pulmonary surfactant metabolism dysfunction 4 (SMDP4) [MIM:300770] CSF2RB P32927 VAR_014801 p.Pro603Thr LB/B rs1801122 - CSF2RB P32927 VAR_014802 p.Gly647Val LB/B rs1801115 - CSF2RB P32927 VAR_014803 p.Val652Met LB/B rs1801114 - CSF2RB P32927 VAR_042521 p.Glu249Gln LB/B rs16845 - CSF2RB P32927 VAR_042522 p.Pro696Ser LB/B rs16997517 - CSF3 P09919 VAR_013073 p.Leu157Met LB/B rs2227329 - CSF3 P09919 VAR_013074 p.Ala174Thr LB/B rs2227330 - CSF3R Q99062 VAR_014325 p.Met231Thr LB/B rs3917973 - CSF3R Q99062 VAR_014326 p.Asp320Asn LB/B rs3918018 - CSF3R Q99062 VAR_014327 p.Gln346Arg LB/B rs3917974 - CSF3R Q99062 VAR_014328 p.Glu405Lys LB/B rs3918019 - CSF3R Q99062 VAR_014329 p.Arg440Gln LB/B rs3918020 - CSF3R Q99062 VAR_014330 p.Asp510His LB/B rs3917991 - CSF3R Q99062 VAR_014331 p.Tyr562His LB/B rs3917996 - CSF3R Q99062 VAR_014332 p.Arg583Cys LB/B rs3917997 - CSF3R Q99062 VAR_062517 p.Pro229His LB/B rs764202764 - CSF3R Q99062 VAR_063065 p.Thr640Asn LP/P rs121918426 Hereditary neutrophilia (NEUTROPHILIA) [MIM:162830] CSF3R Q99062 VAR_077011 p.Arg308Cys LP/P rs606231473 Neutropenia, severe congenital 7, autosomal recessive (SCN7) [MIM:617014] CSGALNACT1 Q8TDX6 VAR_055647 p.Val137Ile LB/B rs17128518 - CSGALNACT1 Q8TDX6 VAR_055648 p.Phe473Tyr LB/B rs17128366 - CSGALNACT1 Q8TDX6 VAR_060391 p.Ser193Asn LB/B rs7017776 - CSGALNACT1 Q8TDX6 VAR_078123 p.His234Arg US rs200092345 - CSGALNACT1 Q8TDX6 VAR_078124 p.Pro384Arg LP/P rs746391651 Skeletal dysplasia, mild, with joint laxity and advanced bone age (SDJLABA) [MIM:618870] CSGALNACT1 Q8TDX6 VAR_078125 p.Met509Arg US rs533235539 - CSGALNACT1 Q8TDX6 VAR_084187 p.Asn264Ser LP/P - Skeletal dysplasia, mild, with joint laxity and advanced bone age (SDJLABA) [MIM:618870] CSGALNACT1 Q8TDX6 VAR_084188 p.Asp432Tyr LP/P - Skeletal dysplasia, mild, with joint laxity and advanced bone age (SDJLABA) [MIM:618870] CSGALNACT2 Q8N6G5 VAR_048715 p.Glu215Lys LB/B rs11238456 - CSGALNACT2 Q8N6G5 VAR_048716 p.Pro479Ser LB/B rs2435381 - CSHL1 Q14406 VAR_059807 p.Asp141Glu LB/B rs2727307 - CSK P41240 VAR_025203 p.Gly287Asp LB/B rs34866753 - CSK P41240 VAR_025204 p.Arg398Gln LB/B rs34616395 - CSK P41240 VAR_025205 p.His442Arg LB/B rs35556162 - CSK P41240 VAR_041678 p.Pro45Leu LB/B - - CSKMT A8MUP2 VAR_046283 p.Gly125Ser LB/B rs11231181 - CSMD1 Q96PZ7 VAR_056846 p.Gly3311Trp LB/B rs34079122 - CSMD1 Q96PZ7 VAR_059634 p.Met2040Ile LB/B rs6995799 - CSMD1 Q96PZ7 VAR_059635 p.Gln3369His LB/B rs34337712 - CSMD1 Q96PZ7 VAR_059636 p.Ser3478Asn LB/B rs11984691 - CSMD1 Q96PZ7 VAR_076444 p.Pro2260Ala LB/B rs1254099921 - CSMD1 Q96PZ7 VAR_076445 p.Tyr3539Cys LB/B rs573209145 - CSMD2 Q7Z408 VAR_024330 p.His538Arg LB/B rs474474 - CSMD2 Q7Z408 VAR_028081 p.Leu167Pro LB/B rs16836099 - CSMD2 Q7Z408 VAR_028082 p.Arg2096Lys LB/B rs1874045 - CSMD2 Q7Z408 VAR_028083 p.Ala2117Val LB/B rs11588581 - CSMD2 Q7Z408 VAR_028084 p.Met2554Val LB/B rs2641962 - CSMD2 Q7Z408 VAR_028085 p.Leu2661Arg LB/B rs3820206 - CSMD2 Q7Z408 VAR_028086 p.Ser3406Phe LB/B rs1617468 - CSMD2 Q7Z408 VAR_050917 p.Leu2661Val LB/B rs34850622 - CSMD3 Q7Z407 VAR_017404 p.Ile219Met LB/B rs2219898 - CSMD3 Q7Z407 VAR_017405 p.Val3000Leu LB/B rs2193430 - CSMD3 Q7Z407 VAR_017406 p.Asn3621His LB/B rs1592624 - CSMD3 Q7Z407 VAR_035688 p.Trp322Gly US - A colorectal cancer sample CSMD3 Q7Z407 VAR_035689 p.Arg3079His US rs780986269 A colorectal cancer sample CSMD3 Q7Z407 VAR_035690 p.Arg3359Gln US rs139968762 A colorectal cancer sample CSMD3 Q7Z407 VAR_064703 p.Ser2020Cys US - - CSN1S1 P47710 VAR_048614 p.Ala117Val LB/B rs10030475 - CSN3 P07498 VAR_026338 p.Tyr75Cys LB/B rs17850702 - CSN3 P07498 VAR_026339 p.Arg110Leu LB/B rs1048152 - CSN3 P07498 VAR_026340 p.Ala145Thr LB/B rs3775739 - CSNK1A1 P48729 VAR_042073 p.Asp297His US - A breast pleomorphic lobular carcinoma sample CSNK1A1L Q8N752 VAR_034047 p.Arg170Ser LB/B rs17773251 - CSNK1A1L Q8N752 VAR_036450 p.Arg21Gln US rs373362769 A colorectal cancer sample CSNK1A1L Q8N752 VAR_042074 p.Ser5Gly LB/B rs56224973 - CSNK1A1L Q8N752 VAR_042075 p.Arg21Trp LB/B rs56158728 - CSNK1A1L Q8N752 VAR_042076 p.Asp42Glu LB/B rs9576175 - CSNK1A1L Q8N752 VAR_042077 p.Glu177Lys LB/B rs17054882 - CSNK1A1L Q8N752 VAR_042078 p.Pro220Leu LB/B rs56252856 - CSNK1A1L Q8N752 VAR_042079 p.Lys230Asn LB/B rs56252523 - CSNK1A1L Q8N752 VAR_042080 p.Ala257Thr LB/B rs55895045 - CSNK1D P48730 VAR_029075 p.Thr44Ala LP/P rs104894561 Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224] CSNK1D P48730 VAR_036451 p.Ser97Cys US - Breast cancer samples CSNK1D P48730 VAR_042081 p.Pro401Ala LB/B rs56124628 - CSNK1D P48730 VAR_069801 p.His46Arg LP/P rs397514693 Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224] CSNK1E P49674 VAR_042082 p.Arg256Leu US - A lung adenocarcinoma sample CSNK1E P49674 VAR_042083 p.His413Arg LB/B rs35665927 - CSNK1G1 Q9HCP0 VAR_042084 p.Arg206Lys LB/B rs55799101 - CSNK1G1 Q9HCP0 VAR_042085 p.Val329Ile LB/B rs55699712 - CSNK1G1 Q9HCP0 VAR_078686 p.Arg230Trp LB/B rs587777544 - CSNK1G2 P78368 VAR_042086 p.Phe189Leu LB/B rs55702630 - CSNK1G2 P78368 VAR_042087 p.Glu194Gly LB/B rs55780547 - CSNK1G2 P78368 VAR_042088 p.Ile196Thr LB/B rs55923222 - CSNK1G2 P78368 VAR_042089 p.Tyr206Cys LB/B rs56264133 - CSNK1G2 P78368 VAR_042090 p.Tyr206His LB/B rs56108438 - CSNK1G2 P78368 VAR_042091 p.Arg207Ser LB/B rs56340103 - CSNK1G2 P78368 VAR_042092 p.Glu208Gln LB/B rs55818316 - CSNK1G2 P78368 VAR_042093 p.Arg217Cys LB/B rs55754218 - CSNK1G2 P78368 VAR_042094 p.Thr223Met LB/B rs56038081 - CSNK2A1 P68400 VAR_077045 p.Arg47Gln LP/P rs869312845 Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] CSNK2A1 P68400 VAR_077046 p.Tyr50Ser LP/P rs869312849 Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] CSNK2A1 P68400 VAR_077047 p.Asp175Gly LP/P rs869312848 Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] CSNK2A1 P68400 VAR_077048 p.Lys198Arg LP/P rs869312840 Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] CSNK2A2 P19784 VAR_040416 p.Glu188Ala LB/B rs55911801 - CSNK2A3 Q8NEV1 VAR_069225 p.Ile133Thr US rs2071460 A lung carcinoma sample CSNK2B P67870 VAR_083651 p.Arg86Cys US - Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) [MIM:618732] CSNK2B P67870 VAR_083652 p.Arg111Pro LP/P - Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) [MIM:618732] CSNK2B P67870 VAR_083653 p.Cys137Phe LP/P - Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) [MIM:618732] CSNK2B P67870 VAR_083654 p.Cys137Gly LP/P - Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) [MIM:618732] CSNK2B P67870 VAR_083655 p.Leu187Arg LP/P - Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) [MIM:618732] CSPG4 Q6UVK1 VAR_061733 p.Arg1703His LB/B rs8023621 - CSPG5 O95196 VAR_055089 p.Gly188Val LB/B rs3732530 - CSPG5 O95196 VAR_055090 p.Thr417Pro LB/B rs34016925 - CSPP1 Q1MSJ5 VAR_033045 p.Arg907His LB/B rs16933182 - CSPP1 Q1MSJ5 VAR_047014 p.Trp1135Arg LB/B rs1808140 - CSRNP1 Q96S65 VAR_055100 p.Val453Ile LB/B rs1274958 - CSRNP2 Q9H175 VAR_053016 p.Thr436Met LB/B rs11542510 - CSRNP3 Q8WYN3 VAR_035993 p.Pro474Leu US rs766623860 A colorectal cancer sample CSRP1 P21291 VAR_050144 p.Lys108Ile LB/B rs3738283 - CSRP3 P50461 VAR_015401 p.Trp4Arg US rs45550635 Cardiomyopathy, dilated, 1M (CMD1M) [MIM:607482] CSRP3 P50461 VAR_045932 p.Leu44Pro LP/P rs104894205 Cardiomyopathy, familial hypertrophic, 12 (CMH12) [MIM:612124] CSRP3 P50461 VAR_045934 p.Cys58Gly LP/P rs104894204 Cardiomyopathy, familial hypertrophic, 12 (CMH12) [MIM:612124] CSRP3 P50461 VAR_076805 p.Gly72Arg US rs45552933 Cardiomyopathy, dilated, 1M (CMD1M) [MIM:607482] CST1 P01037 VAR_028932 p.Tyr4His LB/B rs6076122 - CST1 P01037 VAR_028933 p.Pro31Leu LB/B rs2070856 - CST1 P01037 VAR_028934 p.Asn129Asp LB/B rs3188319 - CST1 P01037 VAR_028935 p.Arg131Met LB/B rs3188320 - CST1 P01037 VAR_028936 p.Lys135Asn LB/B rs3188322 - CST3 P01034 VAR_002207 p.Leu94Gln LP/P rs28939068 Amyloidosis 6 (AMYL6) [MIM:105150] CST3 P01034 VAR_011893 p.Ala25Thr LP/P rs1064039 Macular degeneration, age-related, 11 (ARMD11) [MIM:611953] CST4 P01036 VAR_036549 p.Thr77Asn US - A breast cancer sample CST4 P01036 VAR_048852 p.Asp36Asn LB/B rs3210291 - CST5 P28325 VAR_002208 p.Cys46Arg LB/B rs1799841 - CST8 O60676 VAR_014527 p.Ala142Pro LB/B rs1054633 - CST8 O60676 VAR_061130 p.Ala52Val LB/B rs35190670 - CST9 Q5W186 VAR_038045 p.Leu48Phe LB/B rs2983640 - CST9L Q9H4G1 VAR_022079 p.His109Pro LB/B rs2295564 - CSTA P01040 VAR_048851 p.Thr96Met LB/B rs34173813 - CSTB P04080 VAR_002206 p.Gly4Arg LP/P rs74315443 Epilepsy, progressive myoclonic 1 (EPM1) [MIM:254800] CSTL1 Q9H114 VAR_024425 p.Trp88Arg LB/B rs3746736 - CSTL1 Q9H114 VAR_024426 p.Thr96Met LB/B rs3746737 - CSTL1 Q9H114 VAR_033841 p.Thr59Ala LB/B rs7361799 - CSTL1 Q9H114 VAR_033842 p.Tyr62Phe LB/B rs16985357 - CSTL1 Q9H114 VAR_033843 p.Arg66Lys LB/B rs17757442 - CT45A3 Q8NHU0 VAR_075898 p.Glu55Ala LB/B rs200277856 - CTAG2 O75638 VAR_007855 p.Arg6Gln LB/B rs17855367 - CTAG2 O75638 VAR_007856 p.Glu89Gln LB/B rs17328091 - CTAG2 O75638 VAR_057512 p.Pro99Ala LB/B rs5987003 - CTAGE1 Q96RT6 VAR_046956 p.Ile682Val LB/B rs9946136 - CTBP1 Q13363 VAR_080622 p.Arg342Trp LP/P rs869320802 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) [MIM:617915] CTBS Q01459 VAR_020160 p.Asp310Tyr LB/B rs3768249 - CTBS Q01459 VAR_049197 p.Val274Ile LB/B rs15911 - CTC1 Q2NKJ3 VAR_032282 p.Ile820Val LB/B rs3027238 - CTC1 Q2NKJ3 VAR_032283 p.Ile1005Val LB/B rs3826543 - CTC1 Q2NKJ3 VAR_067369 p.Ala227Val LP/P rs199473673 Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199] CTC1 Q2NKJ3 VAR_067370 p.Val259Met LP/P rs387907080 Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199] CTC1 Q2NKJ3 VAR_067371 p.Gly503Arg LP/P rs1320809462 Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199] CTC1 Q2NKJ3 VAR_067372 p.Val665Gly LP/P rs199473676 Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199] CTC1 Q2NKJ3 VAR_067373 p.Arg840Trp LP/P rs373905859 Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199] CTC1 Q2NKJ3 VAR_067374 p.Val871Met LP/P rs369255297 Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199] CTC1 Q2NKJ3 VAR_067375 p.Arg975Gly LP/P rs199473678 Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199] CTC1 Q2NKJ3 VAR_067377 p.Arg987Trp LP/P rs202138550 Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199] CTC1 Q2NKJ3 VAR_067378 p.Leu1142His LP/P rs199473681 Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199] CTCF P49711 VAR_013141 p.Arg339Trp US rs1243010179 A Wilms' tumor CTCF P49711 VAR_013142 p.Lys344Glu US rs1215280530 A breast tumor CTCF P49711 VAR_013143 p.His345Arg US - A prostate tumor CTCF P49711 VAR_013144 p.Arg448Gln US - A Wilms' tumor CTCF P49711 VAR_070776 p.Arg567Trp LP/P rs879255516 Intellectual developmental disorder, autosomal dominant 21 (MRD21) [MIM:615502] CTCF P49711 VAR_079375 p.Arg278Cys US rs1266478000 - CTCF P49711 VAR_079376 p.Arg342His US - - CTCF P49711 VAR_079377 p.Lys365Thr US - - CTCFL Q8NI51 VAR_023213 p.Glu50Gln LB/B rs6070128 - CTCFL Q8NI51 VAR_023214 p.Thr177Ala LB/B rs6025606 - CTCFL Q8NI51 VAR_032766 p.Gln525Glu LB/B rs6070122 - CTCFL Q8NI51 VAR_057374 p.Arg448His LB/B rs6092491 - CTDNEP1 O95476 VAR_034699 p.Thr12Ala LB/B rs3744399 - CTDP1 Q9Y5B0 VAR_018264 p.Thr340Met LB/B rs2279103 - CTDP1 Q9Y5B0 VAR_032763 p.Leu755Ser LB/B rs34967023 - CTDP1 Q9Y5B0 VAR_060440 p.Ser282Phe LB/B rs4799078 - CTDP1 Q9Y5B0 VAR_060441 p.Pro519His LB/B rs557503 - CTDSP1 Q9GZU7 VAR_049054 p.Ala56Thr LB/B rs2227249 - CTDSPL O15194 VAR_019683 p.Ser121Pro LB/B - - CTDSPL O15194 VAR_019684 p.Asn127Ser LB/B rs1341429725 - CTDSPL O15194 VAR_019685 p.Val132Gly LB/B - - CTDSPL2 Q05D32 VAR_042886 p.Ala244Val LB/B rs871923 - CTF1 Q16619 VAR_014938 p.Ala92Thr LB/B rs2234933 - CTH P32929 VAR_015450 p.Thr67Ile LP/P rs28941785 Cystathioninuria (CSTNU) [MIM:219500] CTH P32929 VAR_015451 p.Gln240Glu LP/P rs28941786 Cystathioninuria (CSTNU) [MIM:219500] CTH P32929 VAR_015452 p.Ser403Ile LB/B rs1021737 - CTHRC1 Q96CG8 VAR_066589 p.Gln44Pro LB/B rs387907029 - CTIF O43310 VAR_020041 p.Pro82Leu LB/B rs2277712 - CTIF O43310 VAR_035749 p.Val389Leu US rs751006365 A breast cancer sample CTIF O43310 VAR_035750 p.Met438Ile US - A breast cancer sample CTLA4 P16410 VAR_013577 p.Thr17Ala LB/B rs231775 - CTLA4 P16410 VAR_072681 p.Arg70Trp LP/P rs606231422 Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation (IDAIL) [MIM:616100] CTNNA1 P35221 VAR_022303 p.Ala179Val LB/B rs28363394 - CTNNA1 P35221 VAR_022304 p.Pro219Ser LB/B rs28363406 - CTNNA1 P35221 VAR_076586 p.Arg54Cys LP/P rs781520852 Macular dystrophy, patterned, 2 (MDPT2) [MIM:608970] CTNNA1 P35221 VAR_076587 p.Glu307Lys LP/P rs869320697 Macular dystrophy, patterned, 2 (MDPT2) [MIM:608970] CTNNA1 P35221 VAR_076588 p.Leu318Ser LP/P rs869320696 Macular dystrophy, patterned, 2 (MDPT2) [MIM:608970] CTNNA1 P35221 VAR_076589 p.Ile431Met LP/P rs755215402 Macular dystrophy, patterned, 2 (MDPT2) [MIM:608970] CTNNA3 Q9UI47 VAR_053369 p.Ser596Asn LB/B rs4548513 - CTNNA3 Q9UI47 VAR_062093 p.Arg535Cys LB/B rs41274090 - CTNNA3 Q9UI47 VAR_070998 p.Val94Asp LP/P rs587777134 Arrhythmogenic right ventricular dysplasia, familial, 13 (ARVD13) [MIM:615616] CTNNAL1 Q9UBT7 VAR_020924 p.Asn91Thr LB/B rs28361109 - CTNNAL1 Q9UBT7 VAR_020925 p.Glu203Lys LB/B rs28361118 - CTNNAL1 Q9UBT7 VAR_020926 p.Glu527Gln LB/B rs7021366 - CTNNAL1 Q9UBT7 VAR_020927 p.Ile593Asn LB/B rs28361167 - CTNNAL1 Q9UBT7 VAR_020928 p.Met716Arg LB/B rs28361182 - CTNNAL1 Q9UBT7 VAR_033845 p.Thr424Ser LB/B rs16913734 - CTNNAL1 Q9UBT7 VAR_053370 p.Asp555Glu LB/B rs34922868 - CTNNB1 P35222 VAR_017612 p.Ser23Arg US rs1413975856 Hepatocellular carcinoma CTNNB1 P35222 VAR_017614 p.Asp32Ala US rs121913396 Hepatocellular carcinoma CTNNB1 P35222 VAR_017615 p.Asp32Gly US rs121913396 Hepatocellular carcinoma CTNNB1 P35222 VAR_017615 p.Asp32Gly LP/P rs121913396 Pilomatrixoma (PTR) [MIM:132600] CTNNB1 P35222 VAR_017616 p.Asp32Tyr US rs28931588 Hepatocellular carcinoma CTNNB1 P35222 VAR_017616 p.Asp32Tyr LP/P rs28931588 Pilomatrixoma (PTR) [MIM:132600] CTNNB1 P35222 VAR_017617 p.Ser33Phe US rs121913400 Hepatocellular carcinoma CTNNB1 P35222 VAR_017617 p.Ser33Phe LP/P rs121913400 Medulloblastoma (MDB) [MIM:155255] CTNNB1 P35222 VAR_017617 p.Ser33Phe LP/P rs121913400 Pilomatrixoma (PTR) [MIM:132600] CTNNB1 P35222 VAR_017618 p.Ser33Leu US - Hepatocellular carcinoma CTNNB1 P35222 VAR_017619 p.Ser33Tyr LP/P rs121913400 Colorectal cancer (CRC) [MIM:114500] CTNNB1 P35222 VAR_017619 p.Ser33Tyr LP/P rs121913400 Pilomatrixoma (PTR) [MIM:132600] CTNNB1 P35222 VAR_017620 p.Gly34Glu LP/P rs28931589 Pilomatrixoma (PTR) [MIM:132600] CTNNB1 P35222 VAR_017621 p.Gly34Arg US rs121913399 Hepatocellular carcinoma CTNNB1 P35222 VAR_017622 p.Gly34Val LB/B rs28931589 - CTNNB1 P35222 VAR_017623 p.Ile35Ser US - Hepatocellular carcinoma CTNNB1 P35222 VAR_017624 p.Ser37Ala US rs121913228 Hepatocellular carcinoma CTNNB1 P35222 VAR_017624 p.Ser37Ala LP/P rs121913228 Medulloblastoma (MDB) [MIM:155255] CTNNB1 P35222 VAR_017625 p.Ser37Cys LP/P rs121913403 Ovarian cancer (OC) [MIM:167000] CTNNB1 P35222 VAR_017625 p.Ser37Cys LP/P rs121913403 Pilomatrixoma (PTR) [MIM:132600] CTNNB1 P35222 VAR_017626 p.Ser37Phe LP/P rs121913403 Pilomatrixoma (PTR) [MIM:132600] CTNNB1 P35222 VAR_017627 p.Ser37Tyr US rs121913403 Hepatocellular carcinoma CTNNB1 P35222 VAR_017629 p.Thr41Ala US rs121913412 Hepatocellular carcinoma CTNNB1 P35222 VAR_017630 p.Thr41Ile US rs121913413 Hepatocellular carcinoma CTNNB1 P35222 VAR_017630 p.Thr41Ile LP/P rs121913413 Ovarian cancer (OC) [MIM:167000] CTNNB1 P35222 VAR_017630 p.Thr41Ile LP/P rs121913413 Pilomatrixoma (PTR) [MIM:132600] CTNNB1 P35222 VAR_017631 p.Ser45Phe US rs121913409 Hepatocellular carcinoma CTNNB1 P35222 VAR_017632 p.Ser45Pro US rs121913407 Hepatocellular carcinoma CTNNB1 P35222 VAR_018954 p.Met688Val LB/B rs4135384 - CTNNB1 P35222 VAR_072282 p.Leu388Pro LP/P - Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075] CTNNB1 P35222 VAR_079200 p.Arg710Cys US rs748653573 Vitreoretinopathy, exudative 7 (EVR7) [MIM:617572] CTNNBL1 Q8WYA6 VAR_059638 p.Asn507Asp LB/B rs4811236 - CTNNBL1 Q8WYA6 VAR_087117 p.Met466Val LP/P rs201986512 Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias (IMD99) [MIM:619846] CTNND1 O60716 VAR_020929 p.Tyr217Cys LB/B rs11570194 - CTNND1 O60716 VAR_020930 p.Arg464Cys LB/B rs11570199 - CTNND1 O60716 VAR_020931 p.Arg915Lys LB/B rs11570222 - CTNND1 O60716 VAR_038255 p.Ser171Phe LB/B rs11229133 - CTNND2 Q9UQB3 VAR_036162 p.Pro1159Ser US - A colorectal cancer sample CTNND2 Q9UQB3 VAR_062270 p.Gly275Cys US rs61749844 - CTNND2 Q9UQB3 VAR_062271 p.Ala482Thr LB/B rs61750706 - CTNND2 Q9UQB3 VAR_062272 p.Gly810Arg LB/B rs61754599 - CTNND2 Q9UQB3 VAR_073387 p.Gly34Ser LB/B rs151129181 - CTNND2 Q9UQB3 VAR_073388 p.Pro189Leu LB/B rs149573037 - CTNND2 Q9UQB3 VAR_073389 p.Pro224Leu LB/B rs769623284 - CTNND2 Q9UQB3 VAR_073390 p.Arg330His LB/B rs199506424 - CTNND2 Q9UQB3 VAR_073391 p.Arg454His LB/B rs750266236 - CTNND2 Q9UQB3 VAR_073392 p.Asp465Asn LB/B rs200377770 - CTNND2 Q9UQB3 VAR_073393 p.Gln507Pro LB/B rs142843736 - CTNND2 Q9UQB3 VAR_073394 p.Arg713Cys LB/B rs768575356 - CTNND2 Q9UQB3 VAR_073395 p.Thr862Met US rs773517967 - CTNS O60931 VAR_010285 p.Val42Ile LB/B rs35086888 - CTNS O60931 VAR_010286 p.Gly169Asp LP/P rs121908126 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010287 p.Lys280Arg LP/P - Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900] CTNS O60931 VAR_010288 p.Asn323Lys LP/P rs121908128 Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900] CTNS O60931 VAR_010677 p.Ile133Phe LP/P rs886040970 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010678 p.Ser139Phe LP/P rs267606754 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010680 p.Leu158Pro LP/P rs113994206 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010681 p.Trp182Arg LP/P rs764168489 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010682 p.Gly197Arg LP/P rs113994207 Cystinosis, adult, non-nephropathic type (CTNSANN) [MIM:219750] CTNS O60931 VAR_010683 p.Asp205Asn LP/P rs113994208 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010690 p.Asp305Gly LP/P rs1263951539 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010691 p.Asp305Tyr LP/P - Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010692 p.Gly308Arg LP/P rs746307931 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010694 p.Leu338Pro LP/P - Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010695 p.Gly339Arg LP/P rs121908127 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010698 p.Asp346Asn LP/P rs757535731 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_012314 p.Lys292Arg US rs1800527 - CTNS O60931 VAR_012315 p.Ser298Asn LP/P rs1212133760 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_037318 p.Gly110Val LP/P rs121908129 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_037319 p.Asn177Thr LP/P - Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900] CTNS O60931 VAR_037320 p.Pro200Leu LP/P - Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900] CTNS O60931 VAR_037321 p.Gln222Arg LP/P rs1327959008 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_037322 p.Asn288Lys LP/P - Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_060371 p.Thr260Ile LB/B rs161400 - CTNS O60931 VAR_067490 p.Arg151Gly LP/P rs1555563010 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_067491 p.Gly157Asp LP/P - Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_067492 p.Tyr173Cys LP/P rs1555563446 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_067493 p.Asn177Ser LP/P - Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_067494 p.Met287Ile LP/P rs922106812 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_067495 p.Gly308Val LP/P rs908965524 Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_067496 p.Gly309Asp LP/P - Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_067497 p.Gly337Arg LP/P - Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_067498 p.Leu338Arg LP/P - Cystinosis, nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_084186 p.Ser141Phe LP/P - Cystinosis, nephropathic type (CTNS) [MIM:219800] CTPS1 P17812 VAR_027055 p.Ser571Ile LB/B rs17856308 - CTRB1 P17538 VAR_014566 p.Thr250Ala LB/B rs4737 - CTRB1 P17538 VAR_057158 p.Asp222His LB/B rs8061550 - CTRB2 Q6GPI1 VAR_062766 p.Ala250Thr LB/B rs4737 - CTRC Q99895 VAR_010928 p.Arg80Trp LB/B rs779643710 - CTRC Q99895 VAR_043516 p.Asp35His LB/B rs184977421 - CTRC Q99895 VAR_043517 p.Asp35Asn LB/B rs184977421 - CTRC Q99895 VAR_043518 p.Arg37Gln LB/B rs145868278 - CTRC Q99895 VAR_043519 p.Gln48Arg LB/B rs536812916 - CTRC Q99895 VAR_043520 p.Ala73Thr LP/P rs515726209 Pancreatitis, hereditary (PCTT) [MIM:167800] CTRC Q99895 VAR_043521 p.Lys172Glu LB/B rs34949635 - CTRC Q99895 VAR_043522 p.Gly217Arg LP/P rs202058123 Pancreatitis, hereditary (PCTT) [MIM:167800] CTRC Q99895 VAR_043523 p.Gly217Ser LP/P rs202058123 Pancreatitis, hereditary (PCTT) [MIM:167800] CTRC Q99895 VAR_043524 p.Gly218Ser LB/B - - CTRC Q99895 VAR_043525 p.Leu220Arg US - - CTRC Q99895 VAR_043526 p.Glu225Ala LB/B rs201486613 - CTRC Q99895 VAR_043527 p.Val235Ile LP/P rs140993290 Pancreatitis, hereditary (PCTT) [MIM:167800] CTRC Q99895 VAR_043528 p.Pro249Leu LP/P rs142560329 Pancreatitis, hereditary (PCTT) [MIM:167800] CTRC Q99895 VAR_043529 p.Arg254Trp LP/P rs121909293 Pancreatitis, hereditary (PCTT) [MIM:167800] CTRC Q99895 VAR_043530 p.Asp260Asn LB/B rs540753875 - CTRC Q99895 VAR_070520 p.Gly18Arg US rs200576965 - CTRC Q99895 VAR_070521 p.Arg29Gln US rs772024986 - CTRC Q99895 VAR_070522 p.Gly32Val LP/P - Pancreatitis, hereditary (PCTT) [MIM:167800] CTRC Q99895 VAR_070523 p.Asp35Tyr US - - CTRC Q99895 VAR_070524 p.Gly61Arg US rs769482036 - CTRC Q99895 VAR_070525 p.Lys151Asn US - - CTRC Q99895 VAR_070526 p.Cys155Tyr LP/P - Pancreatitis, hereditary (PCTT) [MIM:167800] CTRC Q99895 VAR_070527 p.Arg162His US rs775404479 - CTRC Q99895 VAR_070528 p.Gln178Arg LP/P rs200678111 Pancreatitis, hereditary (PCTT) [MIM:167800] CTRC Q99895 VAR_070529 p.Met200Val US rs146235499 - CTRC Q99895 VAR_070530 p.Ile209Met LB/B - - CTRC Q99895 VAR_070531 p.Glu225Lys US - - CTRC Q99895 VAR_070532 p.Gly227Ser LB/B rs567745213 - CTRC Q99895 VAR_070533 p.Ser239Ala US - - CTRC Q99895 VAR_070534 p.Ser239Cys US - - CTRC Q99895 VAR_070535 p.Arg246Cys LB/B rs200412314 - CTRC Q99895 VAR_070537 p.Lys247Glu US - - CTRC Q99895 VAR_070538 p.Val250Glu LP/P - Pancreatitis, hereditary (PCTT) [MIM:167800] CTRC Q99895 VAR_070539 p.Arg254Gln US rs755811899 - CTRC Q99895 VAR_070540 p.Ala257Thr US rs200406696 - CTRC Q99895 VAR_070541 p.Asn263Ser US rs769975164 - CTRL P40313 VAR_021939 p.His173Arg LB/B rs1134760 - CTRL P40313 VAR_051834 p.Thr150Ile LB/B rs11552953 - CTSA P10619 VAR_001385 p.Gln49Arg LP/P rs137854541 Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_001386 p.Trp65Arg LP/P rs28934603 Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_001387 p.Ser90Leu LP/P rs137854542 Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_001388 p.Tyr249Asn LP/P rs137854544 Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_001389 p.Tyr395Cys LP/P rs137854543 Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_001390 p.Phe440Val LP/P rs137854540 Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_063018 p.Ser51Tyr LP/P rs538562022 Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_063019 p.Val132Met LP/P rs137854545 Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_063020 p.Leu236Pro LP/P rs137854546 Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_063021 p.Met406Thr LP/P rs137854548 Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_063022 p.Gly439Ser LP/P rs137854547 Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_063023 p.Lys453Glu LP/P rs137854549 Galactosialidosis (GSL) [MIM:256540] CTSB P07858 VAR_006724 p.Leu26Val LB/B rs12338 - CTSB P07858 VAR_014696 p.Ser235Asn LB/B rs17573 - CTSB P07858 VAR_051511 p.Ser53Gly LB/B rs1803250 - CTSB P07858 VAR_051512 p.Pro91Leu LB/B rs11548596 - CTSC P53634 VAR_009541 p.Val249Phe LP/P - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_009542 p.Gln252Leu LP/P rs104894207 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_009543 p.Arg272Pro LP/P rs587777534 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_009544 p.Gly301Ser LP/P rs104894214 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_009545 p.Arg339Cys LP/P rs1044703733 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_009546 p.Tyr347Cys LP/P rs104894211 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_009546 p.Tyr347Cys LP/P rs104894211 Periodontititis, aggressive, 1 (AP1) [MIM:170650] CTSC P53634 VAR_016933 p.Trp39Ser LP/P rs104894210 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_016934 p.His127Pro LP/P rs104894216 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_016935 p.Gln286Arg LP/P rs104894208 Haim-Munk syndrome (HMS) [MIM:245010] CTSC P53634 VAR_016935 p.Gln286Arg LP/P rs104894208 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_016936 p.Trp429Cys LP/P rs104894215 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_016943 p.Ile153Thr LB/B rs217086 - CTSC P53634 VAR_016944 p.Tyr340Cys LP/P - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_016945 p.Glu401Lys LB/B rs200627023 - CTSC P53634 VAR_016946 p.Ile453Val LB/B rs3888798 - CTSC P53634 VAR_019036 p.Val129Glu LP/P rs760130711 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019037 p.Gly139Arg LP/P rs749103588 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019038 p.Asp236Tyr LP/P rs764724707 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019039 p.Arg272His LP/P rs587777534 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019040 p.Cys291Tyr LP/P rs748729285 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019041 p.Gly300Asp LP/P - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019042 p.Gly300Ser LP/P - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019043 p.Gly301Val LP/P - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019044 p.Tyr304Asn LP/P - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019045 p.Gln312Arg LP/P rs1484758757 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019046 p.Glu319Gly LP/P rs1294233227 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019047 p.Tyr412Cys LP/P rs28937571 Periodontititis, aggressive, 1 (AP1) [MIM:170650] CTSC P53634 VAR_019048 p.Glu447Gly LP/P - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_027249 p.His405Asn LP/P - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_027250 p.His405Arg LP/P rs151269219 Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_039686 p.Tyr294His LP/P - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSD P07339 VAR_011621 p.Ala58Val LB/B rs17571 - CTSD P07339 VAR_029362 p.Phe229Ile LP/P rs121912789 Ceroid lipofuscinosis, neuronal, 10 (CLN10) [MIM:610127] CTSD P07339 VAR_029363 p.Trp383Cys LP/P rs121912790 Ceroid lipofuscinosis, neuronal, 10 (CLN10) [MIM:610127] CTSD P07339 VAR_058490 p.Gly282Arg LB/B rs147278302 - CTSE P14091 VAR_014572 p.Thr324Ile LB/B rs6503 - CTSE P14091 VAR_061731 p.Ile82Val LB/B rs57621203 - CTSF Q9UBX1 VAR_051513 p.Gln153Arg LB/B rs11550508 - CTSF Q9UBX1 VAR_070159 p.Tyr231Cys LP/P rs143889283 Ceroid lipofuscinosis, neuronal, 13 (Kufs type) (CLN13) [MIM:615362] CTSF Q9UBX1 VAR_070160 p.Gln321Arg LP/P rs397514731 Ceroid lipofuscinosis, neuronal, 13 (Kufs type) (CLN13) [MIM:615362] CTSF Q9UBX1 VAR_070161 p.Gly458Ala LP/P rs397514732 Ceroid lipofuscinosis, neuronal, 13 (Kufs type) (CLN13) [MIM:615362] CTSF Q9UBX1 VAR_070162 p.Ser480Leu LP/P rs397514733 Ceroid lipofuscinosis, neuronal, 13 (Kufs type) (CLN13) [MIM:615362] CTSG P08311 VAR_006491 p.Asn125Ser LB/B rs45567233 - CTSH P09668 VAR_036478 p.Gly126Arg US - A colorectal cancer sample CTSH P09668 VAR_057038 p.Gly11Arg LB/B rs2289702 - CTSH P09668 VAR_057039 p.Ala23Thr LB/B rs35001431 - CTSH P09668 VAR_060368 p.Cys26Ser LB/B rs1036938 - CTSH P09668 VAR_067717 p.His179Tyr LB/B rs1130856 - CTSK P43235 VAR_006725 p.Gly146Arg LP/P rs74315302 Pycnodysostosis (PKND) [MIM:265800] CTSK P43235 VAR_006726 p.Leu309Pro LP/P rs29001685 Pycnodysostosis (PKND) [MIM:265800] CTSK P43235 VAR_015738 p.Gly79Glu LP/P rs74315305 Pycnodysostosis (PKND) [MIM:265800] CTSK P43235 VAR_015739 p.Ala277Val LP/P rs74315304 Pycnodysostosis (PKND) [MIM:265800] CTSK P43235 VAR_074023 p.Arg122Pro LP/P - Pycnodysostosis (PKND) [MIM:265800] CTSK P43235 VAR_074024 p.Tyr283Cys LP/P - Pycnodysostosis (PKND) [MIM:265800] CTSL3P Q5NE16 VAR_057040 p.Ser123Gly LB/B rs11141967 - CTSS P25774 VAR_025385 p.Arg113Trp LB/B rs2230061 - CTSS P25774 VAR_025386 p.Ser161Thr LB/B rs1059604 - CTSW P56202 VAR_057041 p.Gln218Arg LB/B rs606830 - CTSW P56202 VAR_058847 p.Ser139Gly LB/B rs604630 - CTSZ Q9UBR2 VAR_010254 p.Pro36Ser LB/B rs778998634 - CTSZ Q9UBR2 VAR_010255 p.Ala129Arg US - - CTSZ Q9UBR2 VAR_033719 p.Ala286Thr LB/B rs34069356 - CTTNBP2 Q8WZ74 VAR_025535 p.Leu1213Val LB/B rs62617115 - CTTNBP2 Q8WZ74 VAR_048294 p.Gln1148Lys LB/B rs10274022 - CTTNBP2NL Q9P2B4 VAR_050925 p.Val296Met LB/B rs1175640 - CTTNBP2NL Q9P2B4 VAR_050926 p.Ser409Gly LB/B rs12137578 - CTU1 Q7Z7A3 VAR_031402 p.Ala107Val LB/B rs17855403 - CTU2 Q2VPK5 VAR_032595 p.Met253Val LB/B rs11549837 - CTU2 Q2VPK5 VAR_032596 p.Val332Ile LB/B rs4782321 - CTU2 Q2VPK5 VAR_032597 p.Gln416Arg LB/B rs8059048 - CTU2 Q2VPK5 VAR_062244 p.His186Tyr LB/B rs2290895 - CTXN3 Q4LDR2 VAR_031763 p.Glu17Val LB/B rs248709 - CTXN3 Q4LDR2 VAR_053885 p.Met23Ile LB/B rs2280170 - CUBN O60494 VAR_025284 p.Phe124Ile LB/B rs1801220 - CUBN O60494 VAR_025285 p.Phe253Ser LB/B rs1801222 - CUBN O60494 VAR_025286 p.Pro389Thr LB/B rs1801224 - CUBN O60494 VAR_025287 p.Tyr1032His LB/B rs1801227 - CUBN O60494 VAR_025288 p.Pro1297Leu LP/P rs121434430 Imerslund-Grasbeck syndrome 1 (IGS1) [MIM:261100] CUBN O60494 VAR_025289 p.Asn1545Tyr LB/B - - CUBN O60494 VAR_025290 p.Pro1559Ser LB/B rs1801231 - CUBN O60494 VAR_025291 p.Val1769Ile LB/B rs74116778 - CUBN O60494 VAR_025292 p.Leu2153Phe LB/B rs62619939 - CUBN O60494 VAR_025293 p.Cys2162Tyr LB/B rs1276712 - CUBN O60494 VAR_025294 p.Pro2575Arg LB/B rs3740168 - CUBN O60494 VAR_025295 p.Gly2691Arg LB/B rs1801237 - CUBN O60494 VAR_025296 p.Ser2717Trp LB/B rs2796835 - CUBN O60494 VAR_025297 p.Leu2879Ile LB/B rs1801238 - CUBN O60494 VAR_025298 p.Ile2984Val LB/B rs1801239 - CUBN O60494 VAR_025299 p.Glu3002Gly LB/B rs1801240 - CUBN O60494 VAR_025300 p.Thr3422Ile LB/B rs1801230 - CUBN O60494 VAR_025301 p.Asn3552Lys LB/B rs1801232 - CUBN O60494 VAR_035829 p.His786Gln US rs1228797857 A breast cancer sample CUBN O60494 VAR_035830 p.Ala2252Val US rs529856485 A colorectal cancer sample CUBN O60494 VAR_035831 p.Ala2914Val US rs45551835 A breast cancer sample CUBN O60494 VAR_035832 p.Ile3189Val US rs111265129 A breast cancer sample CUBN O60494 VAR_047443 p.Gly66Arg LB/B rs12259370 - CUBN O60494 VAR_047444 p.Ile504Met LB/B rs2228053 - CUBN O60494 VAR_047445 p.His730Tyr LB/B rs7905349 - CUBN O60494 VAR_047446 p.Leu969Val LB/B rs11254354 - CUBN O60494 VAR_047447 p.Arg1775Trp LB/B rs1276708 - CUBN O60494 VAR_047448 p.Gly1840Ser LB/B rs2271462 - CUBN O60494 VAR_047449 p.Ser1935Gly LB/B rs41289305 - CUBN O60494 VAR_047450 p.Pro1971Thr LB/B rs2356590 - CUBN O60494 VAR_047451 p.Phe2263Cys LB/B rs2271460 - CUBN O60494 VAR_047452 p.Arg2444Gln LB/B rs11254274 - CUBN O60494 VAR_047453 p.Glu2968Gln LB/B rs45569534 - CUBN O60494 VAR_055714 p.Thr3432Ser LB/B rs7898873 - CUBN O60494 VAR_061154 p.Ala335Thr LB/B rs57335729 - CUBN O60494 VAR_064704 p.Ser3258Gly US - - CUBN O60494 VAR_084400 p.Thr55Met US rs774556167 Proteinuria, chronic benign (PROCHOB) [MIM:618884] CUBN O60494 VAR_084401 p.Pro337Leu LP/P rs202153130 Imerslund-Grasbeck syndrome 1 (IGS1) [MIM:261100] CUBN O60494 VAR_084402 p.Gly1112Glu US - Imerslund-Grasbeck syndrome 1 (IGS1) [MIM:261100] CUBN O60494 VAR_084404 p.Asn1303His US rs200203056 Proteinuria, chronic benign (PROCHOB) [MIM:618884] CUBN O60494 VAR_084406 p.Ala1690Val US rs141640975 - CUBN O60494 VAR_084408 p.Asp1854Tyr US - Proteinuria, chronic benign (PROCHOB) [MIM:618884] CUBN O60494 VAR_084409 p.Gly1928Val US rs201513648 Proteinuria, chronic benign (PROCHOB) [MIM:618884] CUBN O60494 VAR_084410 p.Ser1947Tyr US rs147617753 Proteinuria, chronic benign (PROCHOB) [MIM:618884] CUBN O60494 VAR_084412 p.Asn2157Asp LB/B rs144360241 - CUBN O60494 VAR_084413 p.Leu2261Arg US rs779959064 Proteinuria, chronic benign (PROCHOB) [MIM:618884] CUBN O60494 VAR_084414 p.Cys2599Trp US rs138758085 Proteinuria, chronic benign (PROCHOB) [MIM:618884] CUBN O60494 VAR_084415 p.Pro2822Leu US rs776663892 Proteinuria, chronic benign (PROCHOB) [MIM:618884] CUBN O60494 VAR_084419 p.Tyr3018Ser US rs370778353 Proteinuria, chronic benign (PROCHOB) [MIM:618884] CUBN O60494 VAR_084420 p.Gly3027Arg US rs150202444 Proteinuria, chronic benign (PROCHOB) [MIM:618884] CUBN O60494 VAR_084421 p.Trp3308Arg US rs752843169 Proteinuria, chronic benign (PROCHOB) [MIM:618884] CUBN O60494 VAR_084423 p.Ser3366Cys US rs201157846 Proteinuria, chronic benign (PROCHOB) [MIM:618884] CUBN O60494 VAR_084424 p.Asp3492Tyr US rs764917718 Proteinuria, chronic benign (PROCHOB) [MIM:618884] CUBN O60494 VAR_084425 p.Gly3520Asp US - Proteinuria, chronic benign (PROCHOB) [MIM:618884] CUBN O60494 VAR_084426 p.Asp3609His US rs775742147 Proteinuria, chronic benign (PROCHOB) [MIM:618884] CUEDC1 Q9NWM3 VAR_021951 p.Pro205Ser LB/B rs2304942 - CUEDC1 Q9NWM3 VAR_033765 p.Arg316Gln LB/B rs34800498 - CUEDC1 Q9NWM3 VAR_050933 p.Arg169His LB/B rs17762338 - CUL2 Q13617 VAR_011374 p.Asn109Ser LB/B - - CUL3 Q13618 VAR_017194 p.Asp13His LB/B rs2969802 - CUL3 Q13618 VAR_017195 p.Val567Ile LB/B rs3738952 - CUL3 Q13618 VAR_048839 p.Arg184Ser LB/B rs17480168 - CUL3 Q13618 VAR_067532 p.Asp413Gly LP/P rs199469656 Pseudohypoaldosteronism 2E (PHA2E) [MIM:614496] CUL3 Q13618 VAR_067533 p.Lys459Arg LP/P rs199469658 Pseudohypoaldosteronism 2E (PHA2E) [MIM:614496] CUL3 Q13618 VAR_078688 p.His719Arg US rs763087632 - CUL3 Q13618 VAR_085407 p.Val285Ala LP/P rs1343840421 Neurodevelopmental disorder with or without autism or seizures (NEDAUS) [MIM:619239] CUL4A Q13619 VAR_020341 p.Lys644Arg LB/B rs2302757 - CUL4B Q13620 VAR_032272 p.Leu103Pro LB/B rs61759504 - CUL4B Q13620 VAR_032273 p.Thr213Ile US rs763692058 Intellectual developmental disorder, X-linked, syndromic, Cabezas type (MRXSC) [MIM:300354] CUL4B Q13620 VAR_032274 p.Arg572Cys LP/P rs121434615 Intellectual developmental disorder, X-linked, syndromic, Cabezas type (MRXSC) [MIM:300354] CUL4B Q13620 VAR_032275 p.Val745Ala LP/P - Intellectual developmental disorder, X-linked, syndromic, Cabezas type (MRXSC) [MIM:300354] CUL7 Q14999 VAR_026121 p.Gln813Arg LB/B rs9381231 - CUL7 Q14999 VAR_026122 p.Leu1014Arg US rs61752334 3M syndrome 1 (3M1) [MIM:273750] CUL7 Q14999 VAR_026123 p.Gln1246Gly LP/P - 3M syndrome 1 (3M1) [MIM:273750] CUL7 Q14999 VAR_026124 p.His1464Pro LP/P rs121918229 3M syndrome 1 (3M1) [MIM:273750] CUL7 Q14999 VAR_048841 p.Ser616Gly LB/B rs7774330 - CUL7 Q14999 VAR_048842 p.Arg852Gln LB/B rs34574340 - CUL7 Q14999 VAR_048843 p.Gln1246His LB/B rs36071170 - CUL7 Q14999 VAR_071120 p.Leu1588Pro LP/P rs759300846 3M syndrome 1 (3M1) [MIM:273750] CUL9 Q8IWT3 VAR_048844 p.His2058Pro LB/B rs2273709 - CUL9 Q8IWT3 VAR_048845 p.Thr2180Ile LB/B rs11962520 - CUSTOS Q96C57 VAR_030491 p.Gly44Arg LB/B rs11537857 - CUTC Q9NTM9 VAR_036363 p.Pro77Leu US - A breast cancer sample CUX1 Q13948 VAR_024923 p.Ala464Thr LB/B rs803064 - CUX1 Q13948 VAR_024924 p.Ile545Val LB/B rs2230103 - CUX1 Q13948 VAR_036285 p.Ser490Gly US - A breast cancer sample CUX1 Q13948 VAR_036286 p.Arg609Cys US rs1287689842 A colorectal cancer sample CUX2 O14529 VAR_065096 p.Val1472Leu LB/B rs6490073 - CUX2 O14529 VAR_081600 p.Glu590Lys LP/P rs1565909334 Developmental and epileptic encephalopathy 67 (DEE67) [MIM:618141] CUZD1 Q86UP6 VAR_061992 p.Gly156Ser LB/B rs35120257 - CWC22 Q9HCG8 VAR_057513 p.Ala656Val LB/B rs17778270 - CWC22 Q9HCG8 VAR_057514 p.Asp741Val LB/B rs11903115 - CWC22 Q9HCG8 VAR_057515 p.Arg794Gln LB/B rs1046356 - CWC27 Q6UX04 VAR_037686 p.Pro256Ala LB/B rs7735338 - CWF19L1 Q69YN2 VAR_038264 p.Cys160Tyr LB/B rs2270962 - CWF19L1 Q69YN2 VAR_038265 p.Pro259Leu LB/B rs7073610 - CWF19L1 Q69YN2 VAR_038266 p.Arg523His LB/B rs35490714 - CWF19L1 Q69YN2 VAR_038267 p.Arg526Gln LB/B rs7922946 - CWF19L2 Q2TBE0 VAR_038268 p.Pro210Thr LB/B rs608634 - CWF19L2 Q2TBE0 VAR_038269 p.His443Tyr LB/B rs659040 - CWF19L2 Q2TBE0 VAR_038270 p.His445Gln LB/B rs35968518 - CWF19L2 Q2TBE0 VAR_038271 p.Gly537Arg LB/B rs17106909 - CWF19L2 Q2TBE0 VAR_038272 p.Tyr894Cys LB/B rs3758911 - CWH43 Q9H720 VAR_039234 p.Pro2Thr LB/B rs3747690 - CWH43 Q9H720 VAR_039235 p.His689Asn LB/B rs1051447 - CX3CL1 P78423 VAR_048714 p.Ala240Val LB/B rs35860084 - CX3CR1 P49238 VAR_010041 p.Thr57Ala LB/B rs199811198 - CX3CR1 P49238 VAR_010042 p.Val122Ile LB/B rs143001773 - CX3CR1 P49238 VAR_010043 p.Val249Ile LB/B rs3732379 - CX3CR1 P49238 VAR_010044 p.Thr280Met LB/B rs3732378 - CX3CR1 P49238 VAR_022062 p.Val147Ile LB/B rs3732380 - CX3CR1 P49238 VAR_049386 p.Glu13Asp LB/B rs41535248 - CXADR P78310 VAR_049871 p.Ser323Arg LB/B rs34727960 - CXCL11 O14625 VAR_048700 p.Asn55Ser LB/B rs4859596 - CXCL16 Q9H2A7 VAR_015424 p.Ile123Thr LB/B - - CXCL16 Q9H2A7 VAR_015425 p.Ala181Val LB/B rs2277680 - CXCL3 P19876 VAR_059210 p.His3Arg LB/B rs352043 - CXCR1 P25024 VAR_003479 p.Ser276Thr LB/B rs2234671 - CXCR1 P25024 VAR_016236 p.Arg71Cys LB/B rs1805038 - CXCR1 P25024 VAR_016237 p.Ala306Thr LB/B rs201583693 - CXCR1 P25024 VAR_016238 p.Arg335Cys LB/B rs16858808 - CXCR1 P25024 VAR_021061 p.Met31Arg LB/B rs16858811 - CXCR1 P25024 VAR_021062 p.Ser342Leu LB/B rs16858806 - CXCR1 P25024 VAR_026525 p.Met268Leu LB/B rs9282752 - CXCR2 P25025 VAR_014679 p.Arg80Cys LB/B rs138773569 - CXCR3 P49682 VAR_016240 p.Arg292Gln LB/B rs139226823 - CXCR3 P49682 VAR_016241 p.Ala363Thr LB/B rs766348940 - CXCR5 P32302 VAR_011838 p.Gly344Ser LB/B rs665648 - CXCR5 P32302 VAR_035757 p.Glu34Lys US - A breast cancer sample CXCR6 O00574 VAR_003506 p.Asp25Ala US - - CXCR6 O00574 VAR_024253 p.Glu3Lys LB/B rs2234355 - CXorf1 O96002 VAR_033766 p.Ser36Ala LB/B rs3752359 - CXorf38 Q8TB03 VAR_050936 p.Thr176Ala LB/B rs17145855 - CXorf58 Q96LI9 VAR_029857 p.Arg24Cys LB/B rs2707164 - CXorf58 Q96LI9 VAR_029858 p.Arg187His LB/B rs16982852 - CXorf65 A6NEN9 VAR_045896 p.Arg156His LB/B rs12009522 - CXorf66 Q5JRM2 VAR_046157 p.Pro233Leu LB/B rs5955139 - CYB561 P49447 VAR_081731 p.Gly88Arg LP/P rs772361572 Orthostatic hypotension 2 (ORTHYP2) [MIM:618182] CYB5A P00167 VAR_080834 p.His44Leu LP/P rs1555688659 Methemoglobinemia and ambiguous genitalia (METAG) [MIM:250790] CYB5D1 Q6P9G0 VAR_037486 p.Phe20Leu LB/B rs12453250 - CYB5D2 Q8WUJ1 VAR_037487 p.Arg7Gly US rs200936057 A colorectal cancer sample CYB5D2 Q8WUJ1 VAR_037488 p.Arg7Pro US - A colorectal cancer sample CYB5R1 Q9UHQ9 VAR_032320 p.Asn44Ser LB/B rs2232842 - CYB5R2 Q6BCY4 VAR_032321 p.Glu15Ala LB/B rs11041525 - CYB5R2 Q6BCY4 VAR_032322 p.Asn209Asp LB/B rs12801394 - CYB5R3 P00387 VAR_004619 p.Arg58Gln LP/P rs121965007 Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R3 P00387 VAR_004620 p.Val106Met LP/P rs121965009 Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R3 P00387 VAR_004621 p.Ser128Pro LP/P rs121965006 Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R3 P00387 VAR_004622 p.Leu149Pro LP/P rs121965008 Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R3 P00387 VAR_010750 p.Leu73Pro LP/P rs121965013 Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R3 P00387 VAR_010751 p.Thr117Ser LB/B rs1800457 - CYB5R3 P00387 VAR_010752 p.Ala179Val LP/P rs201232518 Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R3 P00387 VAR_010753 p.Cys204Arg LP/P rs121965011 Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R3 P00387 VAR_010754 p.Cys204Tyr LP/P rs121965015 Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R3 P00387 VAR_018419 p.Ser66Pro LB/B rs1130706 - CYB5R3 P00387 VAR_037316 p.Gly292Asp LP/P rs121965016 Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R4 Q7L1T6 VAR_032323 p.Gln187Arg LB/B rs143478181 - CYB5R4 Q7L1T6 VAR_032324 p.His223Arg LB/B rs141290525 - CYB5R4 Q7L1T6 VAR_032325 p.Ser282Pro LB/B rs10080628 - CYB5R4 Q7L1T6 VAR_036240 p.Asp371Tyr US - A breast cancer sample CYB5R4 Q7L1T6 VAR_036241 p.Leu390Met US - A breast cancer sample CYB5R4 Q7L1T6 VAR_047967 p.Arg140His LB/B rs61762820 - CYB5R4 Q7L1T6 VAR_047968 p.Pro267Ala LB/B rs61382555 - CYB5R4 Q7L1T6 VAR_047969 p.Pro316Ser LB/B rs10080628 - CYB5RL Q6IPT4 VAR_043577 p.Arg47Lys LB/B rs946448 - CYBA P13498 VAR_005122 p.Tyr72His LB/B rs4673 - CYBA P13498 VAR_005123 p.Arg90Gln LP/P rs104894513 Granulomatous disease, chronic, autosomal recessive, 4 (CGD4) [MIM:233690] CYBA P13498 VAR_005124 p.His94Arg LP/P rs104894510 Granulomatous disease, chronic, autosomal recessive, 4 (CGD4) [MIM:233690] CYBA P13498 VAR_005125 p.Ser118Arg LP/P rs104894514 Granulomatous disease, chronic, autosomal recessive, 4 (CGD4) [MIM:233690] CYBA P13498 VAR_005126 p.Pro156Gln LP/P rs104894515 Granulomatous disease, chronic, autosomal recessive, 4 (CGD4) [MIM:233690] CYBA P13498 VAR_012755 p.Gly24Arg LP/P rs28941476 Granulomatous disease, chronic, autosomal recessive, 4 (CGD4) [MIM:233690] CYBA P13498 VAR_054801 p.Val174Ala LB/B rs1049254 - CYBA P13498 VAR_060576 p.Gly25Val LP/P rs179363891 Granulomatous disease, chronic, autosomal recessive, 4 (CGD4) [MIM:233690] CYBA P13498 VAR_060577 p.Leu52Pro LP/P rs179363890 Granulomatous disease, chronic, autosomal recessive, 4 (CGD4) [MIM:233690] CYBA P13498 VAR_060578 p.Glu53Val LP/P rs179363893 Granulomatous disease, chronic, autosomal recessive, 4 (CGD4) [MIM:233690] CYBA P13498 VAR_060579 p.Arg90Trp LP/P rs179363892 Granulomatous disease, chronic, autosomal recessive, 4 (CGD4) [MIM:233690] CYBA P13498 VAR_060580 p.Ala124Val LP/P rs179363894 Granulomatous disease, chronic, autosomal recessive, 4 (CGD4) [MIM:233690] CYBA P13498 VAR_060581 p.Ala125Thr LP/P rs119103269 Granulomatous disease, chronic, autosomal recessive, 4 (CGD4) [MIM:233690] CYBA P13498 VAR_060582 p.Glu171Gly LB/B rs72667005 - CYBA P13498 VAR_060583 p.Glu193Asp LB/B rs72667006 - CYBA P13498 VAR_071860 p.Gly25Asp LP/P rs179363891 Granulomatous disease, chronic, autosomal recessive, 4 (CGD4) [MIM:233690] CYBB P04839 VAR_002432 p.His101Arg LP/P rs137854591 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_002433 p.Ala156Thr LP/P rs137854590 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_002434 p.His209Tyr LP/P rs137854587 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_002435 p.Glu225Val LP/P rs151344494 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_002436 p.Cys244Ser LP/P rs137854589 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_002437 p.Cys244Tyr LP/P rs137854589 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_002438 p.Pro339His LP/P rs151344470 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_002439 p.Gly389Ala LP/P rs137854586 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_002440 p.Pro415His LP/P rs137854585 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_002441 p.Asp500Gly LP/P rs137854593 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007873 p.Gly20Arg LP/P rs151344455 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007874 p.Arg54Ser LP/P rs151344456 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007875 p.Cys59Arg LP/P rs151344457 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007876 p.His101Tyr LP/P rs137854594 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007877 p.His119Arg LP/P rs151344458 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007878 p.His209Gln LP/P rs151344459 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007880 p.His222Asn LP/P rs151344460 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007881 p.His222Arg LP/P rs151344462 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007882 p.His222Tyr LP/P rs151344460 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007883 p.Gly223Leu LP/P rs151344463 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007884 p.Cys244Arg LP/P rs151344465 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007885 p.Glu309Lys LP/P rs151344466 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007886 p.Gly322Glu LP/P rs151344467 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007887 p.Ile325Phe LP/P rs151344468 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007888 p.Ser333Pro LP/P rs151344469 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007889 p.Arg356Pro LP/P rs151344471 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007890 p.Met405Arg LP/P rs151344472 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007891 p.Gly408Glu LP/P rs151344474 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007892 p.Gly408Arg LP/P rs151344473 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007893 p.Pro415Leu LP/P rs137854585 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007894 p.Ser422Pro LP/P rs151344475 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007895 p.Trp453Arg LP/P rs151344476 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007896 p.Trp516Cys LP/P rs151344477 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007897 p.Val534Asp LP/P rs151344478 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_007898 p.Cys537Arg LP/P rs151344454 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_008845 p.Ala57Glu LP/P rs151344481 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_016880 p.His303Asn LP/P rs137854595 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_016881 p.Pro304Arg LP/P rs137854596 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_025613 p.Tyr41Asp LP/P rs151344453 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_025614 p.Arg54Met LP/P rs151344479 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_025615 p.Ala55Asp LP/P rs151344480 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_025616 p.His209Arg LP/P rs151344482 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_025617 p.Ala224Gly LP/P rs151344483 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_025618 p.His338Tyr LP/P rs151344484 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_025619 p.Ser344Phe LP/P rs151344485 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_025620 p.Gly364Arg LB/B rs141756032 - CYBB P04839 VAR_025621 p.Gly389Glu LP/P rs137854586 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_025622 p.Leu420Pro LP/P rs151344486 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_025623 p.Trp516Arg LP/P rs151344487 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_025624 p.Asp517Glu LB/B rs151344452 - CYBB P04839 VAR_047264 p.Trp18Cys LP/P - Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_047266 p.Cys59Trp LP/P rs151344488 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_047267 p.Gly179Arg LP/P rs151344491 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_047268 p.Ser193Phe LP/P rs151344493 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_047269 p.Phe205Ile LP/P rs151344496 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_047271 p.Thr307Pro LP/P rs151344489 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_047273 p.Leu342Gln LP/P rs151344495 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_047274 p.Gly472Ser LB/B rs13306300 - CYBB P04839 VAR_047275 p.Leu505Arg LP/P rs151344490 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_047276 p.Leu546Pro LP/P rs151344492 Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_065365 p.Thr178Pro LP/P rs151344497 Immunodeficiency 34 (IMD34) [MIM:300645] CYBB P04839 VAR_065366 p.Gln231Pro LP/P rs151344498 Immunodeficiency 34 (IMD34) [MIM:300645] CYBB P04839 VAR_068012 p.Ala488Asp LP/P - Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_068013 p.Asp500Glu LP/P - Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_071861 p.Lys299Asn LP/P - Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_071862 p.His338Asp LP/P - Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_071863 p.Gly412Glu LP/P - Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB P04839 VAR_078386 p.Ala409Gly LP/P - Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBRD1 Q53TN4 VAR_038065 p.Met156Thr LB/B rs16859487 - CYBRD1 Q53TN4 VAR_038066 p.Arg226His LB/B rs62181680 - CYBRD1 Q53TN4 VAR_038067 p.Ser266Asn LB/B rs10455 - CYC1 P08574 VAR_013631 p.Leu89Val LB/B - - CYC1 P08574 VAR_025163 p.Met76Val LB/B rs7820984 - CYC1 P08574 VAR_070847 p.Trp96Cys LP/P rs587777041 Mitochondrial complex III deficiency, nuclear type 6 (MC3DN6) [MIM:615453] CYC1 P08574 VAR_070848 p.Leu215Phe LP/P rs587777042 Mitochondrial complex III deficiency, nuclear type 6 (MC3DN6) [MIM:615453] CYCS P99999 VAR_002204 p.Met66Leu LB/B - - CYCS P99999 VAR_044450 p.Gly42Ser LP/P rs121918552 Thrombocytopenia 4 (THC4) [MIM:612004] CYCS P99999 VAR_048850 p.Lys56Arg LB/B rs11548795 - CYFIP1 Q7L576 VAR_053849 p.Ala532Pro LB/B rs34683919 - CYFIP1 Q7L576 VAR_053850 p.Gly820Asp LB/B rs17137190 - CYFIP1 Q7L576 VAR_053851 p.Gly820Ser LB/B rs7170637 - CYFIP2 Q96F07 VAR_030953 p.Lys320Glu LB/B rs3207362 - CYFIP2 Q96F07 VAR_080817 p.Arg87Cys LP/P rs1131692231 Developmental and epileptic encephalopathy 65 (DEE65) [MIM:618008] CYFIP2 Q96F07 VAR_080818 p.Arg87Leu LP/P rs1554108163 Developmental and epileptic encephalopathy 65 (DEE65) [MIM:618008] CYFIP2 Q96F07 VAR_080819 p.Arg87Pro LP/P rs1554108163 Developmental and epileptic encephalopathy 65 (DEE65) [MIM:618008] CYLC1 P35663 VAR_050937 p.Asp399His LB/B rs12008888 - CYLC2 Q14093 VAR_020100 p.Lys190Glu LB/B rs2298050 - CYLC2 Q14093 VAR_020101 p.Gly208Asp LB/B rs2298051 - CYLC2 Q14093 VAR_020102 p.Ala319Glu LB/B rs3763636 - CYLC2 Q14093 VAR_050938 p.Asp146Tyr LB/B rs13293961 - CYLC2 Q14093 VAR_050939 p.Gly184Asp LB/B rs10990424 - CYLD Q9NQC7 VAR_045967 p.Glu747Gly LP/P rs121908389 Brooke-Spiegler syndrome (BRSS) [MIM:605041] CYLD Q9NQC7 VAR_045967 p.Glu747Gly LP/P rs121908389 Multiple familial trichoepithelioma 1 (MFT1) [MIM:601606] CYLD Q9NQC7 VAR_085113 p.Pro229Ser US rs751380834 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (FTDALS8) [MIM:619132] CYLD Q9NQC7 VAR_085114 p.Ser615Phe US - Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (FTDALS8) [MIM:619132] CYLD Q9NQC7 VAR_085115 p.Asp681Gly US - - CYLD Q9NQC7 VAR_085116 p.Met719Val LP/P - Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (FTDALS8) [MIM:619132] CYP11A1 P05108 VAR_013944 p.Glu314Lys LB/B rs6161 - CYP11A1 P05108 VAR_016949 p.Ala189Val LP/P rs121912811 Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743] CYP11A1 P05108 VAR_016951 p.Arg353Trp LP/P rs72547508 Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743] CYP11A1 P05108 VAR_065241 p.Leu141Trp LP/P rs121912813 Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743] CYP11A1 P05108 VAR_065242 p.Leu222Pro LP/P rs387906601 Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743] CYP11A1 P05108 VAR_065243 p.Ala359Val LP/P rs121912812 Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743] CYP11A1 P05108 VAR_065244 p.Val415Glu LP/P rs121912814 Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743] CYP11B1 P15538 VAR_001260 p.Pro42Ser LP/P rs104894069 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_001261 p.Asn133His LP/P rs104894067 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_001262 p.Thr318Met LP/P rs104894061 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_001263 p.Thr319Met LP/P rs104894068 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_001264 p.Arg374Gln LP/P rs104894062 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_001265 p.Arg448His LP/P rs28934586 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_008687 p.Phe494Cys LB/B - - CYP11B1 P15538 VAR_014145 p.Cys10Tyr LB/B rs6405 - CYP11B1 P15538 VAR_014146 p.Arg43Gln LB/B rs4534 - CYP11B1 P15538 VAR_014147 p.Met160Ile LB/B rs5287 - CYP11B1 P15538 VAR_014148 p.Leu293Val LB/B rs5292 - CYP11B1 P15538 VAR_014149 p.Ala348Thr LB/B rs6407 - CYP11B1 P15538 VAR_014150 p.Ala386Val LB/B rs4541 - CYP11B1 P15538 VAR_014638 p.Asp63His LB/B rs5282 - CYP11B1 P15538 VAR_014639 p.Lys173Arg LB/B rs142163070 - CYP11B1 P15538 VAR_014640 p.Phe257Leu LB/B rs5288 - CYP11B1 P15538 VAR_014641 p.Ser281Asn LB/B rs5291 - CYP11B1 P15538 VAR_014642 p.Tyr439His LB/B rs5294 - CYP11B1 P15538 VAR_048462 p.Thr248Ile LB/B rs34620645 - CYP11B1 P15538 VAR_048463 p.Arg404His LB/B rs4998896 - CYP11B1 P15538 VAR_065196 p.Gly379Val LP/P rs1816901292 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_065197 p.Arg454Cys LP/P rs1563867899 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_065666 p.Pro94Leu LP/P rs104894070 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_065667 p.Thr318Arg LP/P rs104894061 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074493 p.Pro42Leu LP/P rs193922538 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074494 p.Phe79Ile LP/P rs1489638195 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074495 p.Leu83Ser LP/P - Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074496 p.Met88Ile LP/P rs193922539 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074497 p.Trp116Cys LP/P rs772003869 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074498 p.Trp116Gly LP/P rs772733691 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074499 p.His125Arg LP/P rs757389720 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074500 p.Val129Met LP/P rs377423817 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074501 p.Pro135Ser LP/P - Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074502 p.Phe139Leu LP/P - Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074503 p.Arg143Trp LP/P rs140336749 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074504 p.Ser150Leu LP/P rs142484434 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074505 p.Leu158Pro LP/P rs1554653191 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074506 p.Pro159Leu LP/P rs370266763 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074508 p.Ala165Asp LP/P rs1554653185 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074509 p.Thr196Ala LP/P - Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074511 p.Gly267Asp LP/P - Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074512 p.Leu299Pro LP/P rs387907573 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074513 p.Ala306Val LP/P rs387907572 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074514 p.Glu310Lys LP/P rs387907574 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074515 p.Gly314Arg LP/P rs1336285846 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074516 p.Thr318Pro LP/P rs1296969984 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074517 p.Phe321Val LP/P rs1453371113 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074518 p.Ala331Val LP/P rs1326688256 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074519 p.Arg332Gln LP/P rs149881706 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074520 p.Arg341Ser US rs372115638 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074521 p.Arg366Cys LP/P rs773245244 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074522 p.Ala368Asp LP/P rs104894071 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074523 p.Glu371Gly LP/P rs368944209 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074524 p.Arg384Gly LP/P - Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074525 p.Arg384Gln LP/P rs764598023 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074526 p.Thr401Ala LP/P rs201300785 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074527 p.Arg427His US rs754432887 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074529 p.Val441Gly LP/P rs772169059 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074530 p.Gly444Asp LP/P rs779103938 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074531 p.Arg448Cys LP/P rs1221010438 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074532 p.Arg453Gln LP/P rs1447069098 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_074534 p.Leu489Ser LP/P rs750428278 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_075553 p.Arg141Gln US rs267601810 Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_075554 p.Arg332Gly LP/P - Adrenal hyperplasia 4 (AH4) [MIM:202010] CYP11B2 P19099 VAR_001266 p.Lys173Arg LB/B rs4539 - CYP11B2 P19099 VAR_001267 p.Arg181Trp LP/P rs28931609 Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600] CYP11B2 P19099 VAR_001268 p.Glu198Asp LP/P rs104894072 Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600] CYP11B2 P19099 VAR_001269 p.Val386Ala LP/P rs61757294 Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600] CYP11B2 P19099 VAR_014151 p.Ala29Thr LB/B rs6438 - CYP11B2 P19099 VAR_014152 p.Arg30Gln LB/B rs6441 - CYP11B2 P19099 VAR_014153 p.Ile248Thr LB/B rs4547 - CYP11B2 P19099 VAR_014154 p.Asn281Ser LB/B rs4537 - CYP11B2 P19099 VAR_014155 p.Ile339Thr LB/B rs4544 - CYP11B2 P19099 VAR_014156 p.Gly435Ser LB/B rs4545 - CYP11B2 P19099 VAR_014643 p.Asn222Thr LB/B rs5308 - CYP11B2 P19099 VAR_014644 p.Glu383Val LB/B rs5312 - CYP11B2 P19099 VAR_014645 p.Val403Glu LB/B rs5315 - CYP11B2 P19099 VAR_014646 p.Phe487Val LB/B rs5317 - CYP11B2 P19099 VAR_018471 p.Thr185Ile LP/P rs121912978 Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600] CYP11B2 P19099 VAR_018472 p.Leu461Pro LP/P rs72554627 Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) [MIM:203400] CYP11B2 P19099 VAR_018473 p.Thr498Ala LP/P rs72554626 Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600] CYP17A1 P05093 VAR_001271 p.Tyr64Ser LP/P rs1183147390 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_001272 p.Ser106Pro LP/P rs104894135 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_001274 p.Pro342Thr LP/P rs104894137 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_001275 p.Arg347His LP/P rs61754278 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_001276 p.Arg358Gln LP/P rs104894139 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_001277 p.His373Leu LP/P rs760695410 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_001278 p.Arg440His LP/P rs777638364 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_001280 p.Arg496Cys LP/P rs1250463562 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_011755 p.Cys22Trp LB/B rs762563 - CYP17A1 P05093 VAR_013147 p.Phe93Cys LP/P rs104894146 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022745 p.Pro35Leu LP/P - Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022746 p.Arg96Trp LP/P rs104894138 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022747 p.Phe114Val LP/P rs104894147 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022748 p.Asp116Val LP/P rs104894148 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022749 p.Asn177Asp LP/P - Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022750 p.Tyr329Asp LP/P rs104894144 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022752 p.Arg347Cys LP/P rs104894149 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022753 p.Arg362Cys LP/P rs104894142 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022754 p.Trp406Arg LP/P rs104894143 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022755 p.Phe417Cys LP/P rs104894140 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022756 p.Pro428Leu LP/P rs104894145 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022757 p.Arg496His LP/P rs763398879 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_073043 p.Arg96Gln LP/P rs104894153 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_073044 p.Trp121Arg LP/P - Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_073045 p.Ala174Glu LP/P - Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_073046 p.His373Asn LP/P rs1423560123 Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_073047 p.Trp406Leu LP/P - Adrenal hyperplasia 5 (AH5) [MIM:202110] CYP19A1 P11511 VAR_016962 p.Arg365Gln LP/P rs80051519 Aromatase deficiency (AROD) [MIM:613546] CYP19A1 P11511 VAR_016963 p.Arg375Cys LP/P rs121434536 Aromatase deficiency (AROD) [MIM:613546] CYP19A1 P11511 VAR_016964 p.Arg435Cys LP/P rs121434534 Aromatase deficiency (AROD) [MIM:613546] CYP19A1 P11511 VAR_016965 p.Cys437Tyr LP/P rs78310315 Aromatase deficiency (AROD) [MIM:613546] CYP19A1 P11511 VAR_018406 p.Arg264Cys LB/B rs700519 - CYP19A1 P11511 VAR_023428 p.Trp39Arg LB/B rs2236722 - CYP19A1 P11511 VAR_023429 p.Thr201Met LB/B rs28757184 - CYP19A1 P11511 VAR_054152 p.Arg375Leu LB/B rs762631156 - CYP19A1 P11511 VAR_072784 p.Arg192His LP/P rs765057534 Aromatase deficiency (AROD) [MIM:613546] CYP19A1 P11511 VAR_077526 p.Arg264His LB/B rs2304462 - CYP19A1 P11511 VAR_079486 p.Ser314Pro US - - CYP1A1 P04798 VAR_001243 p.Ile462Val LB/B rs1048943 - CYP1A1 P04798 VAR_008342 p.Thr461Asn LB/B rs1799814 - CYP1A1 P04798 VAR_009280 p.Arg279Trp LB/B rs34260157 - CYP1A1 P04798 VAR_016937 p.Met331Ile LB/B rs56313657 - CYP1A1 P04798 VAR_016938 p.Ile448Asn LB/B rs72547509 - CYP1A1 P04798 VAR_016939 p.Arg464Cys LB/B rs41279188 - CYP1A1 P04798 VAR_016940 p.Arg464Ser LB/B rs41279188 - CYP1A1 P04798 VAR_016941 p.Arg477Trp LB/B rs56240201 - CYP1A1 P04798 VAR_016942 p.Pro492Arg LB/B rs28399430 - CYP1A1 P04798 VAR_020122 p.Ile286Thr LB/B rs4987133 - CYP1A1 P04798 VAR_023194 p.Gly45Asp LB/B rs4646422 - CYP1A1 P04798 VAR_023195 p.Ile78Thr LB/B rs17861094 - CYP1A1 P04798 VAR_024706 p.Arg93Trp LB/B rs2229150 - CYP1A1 P04798 VAR_024707 p.Thr173Arg LB/B rs28399427 - CYP1A1 P04798 VAR_024708 p.Val482Met LB/B rs28399429 - CYP1A1 P04798 VAR_033817 p.Met66Val LB/B rs35035798 - CYP1A1 P04798 VAR_033818 p.Phe470Val LB/B rs36121583 - CYP1A2 P05177 VAR_008349 p.Phe21Leu LB/B rs56160784 - CYP1A2 P05177 VAR_020793 p.Asp348Asn LB/B rs56276455 - CYP1A2 P05177 VAR_020794 p.Ile386Phe LB/B rs72547516 - CYP1A2 P05177 VAR_020795 p.Cys406Tyr LB/B rs55889066 - CYP1A2 P05177 VAR_020796 p.Arg431Trp LB/B rs28399424 - CYP1A2 P05177 VAR_020848 p.Thr83Met LB/B rs138652540 - CYP1A2 P05177 VAR_020849 p.Glu168Gln LB/B rs72547512 - CYP1A2 P05177 VAR_020850 p.Phe186Leu LB/B rs72547513 - CYP1A2 P05177 VAR_020851 p.Ser212Cys LB/B rs758748797 - CYP1A2 P05177 VAR_020852 p.Gly299Ser LB/B rs35796837 - CYP1A2 P05177 VAR_020853 p.Thr438Ile LB/B rs45486893 - CYP1A2 P05177 VAR_023196 p.Ser18Cys LB/B rs17861152 - CYP1A2 P05177 VAR_024709 p.Ser298Arg LB/B rs17861157 - CYP1A2 P05177 VAR_024710 p.Ile314Val LB/B rs28399418 - CYP1A2 P05177 VAR_025182 p.Pro42Arg LB/B rs72547511 - CYP1A2 P05177 VAR_025183 p.Gly73Arg LB/B rs45565238 - CYP1A2 P05177 VAR_025184 p.Asp104Asn LB/B rs34067076 - CYP1A2 P05177 VAR_025185 p.Leu111Phe LB/B rs45442197 - CYP1A2 P05177 VAR_025186 p.Phe205Val LB/B rs45540640 - CYP1A2 P05177 VAR_025187 p.Arg281Trp LB/B rs45468096 - CYP1A2 P05177 VAR_025188 p.Arg377Gln LB/B rs72547515 - CYP1A2 P05177 VAR_025189 p.Arg456His LB/B rs72547517 - CYP1A2 P05177 VAR_055563 p.Arg457Trp LB/B rs34151816 - CYP1B1 Q16678 VAR_001244 p.Gly61Glu LP/P rs28936700 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_001245 p.Gly365Trp LP/P rs55771538 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_001246 p.Asp374Asn LP/P rs104893622 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_001247 p.Arg469Trp LP/P rs28936701 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_001248 p.Leu432Val LB/B rs1056836 - CYP1B1 Q16678 VAR_008350 p.Trp57Cys LP/P rs72549387 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_008351 p.Pro379Leu LB/B rs56305281 - CYP1B1 Q16678 VAR_008352 p.Glu387Lys LP/P rs55989760 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_008353 p.Arg390His LP/P rs56010818 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_008354 p.Pro437Leu LP/P rs56175199 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_008355 p.Asn453Ser LB/B rs1800440 - CYP1B1 Q16678 VAR_011752 p.Arg48Gly LB/B rs10012 - CYP1B1 Q16678 VAR_011753 p.Ala119Ser LB/B rs1056827 - CYP1B1 Q16678 VAR_016034 p.Arg368His LP/P rs79204362 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] CYP1B1 Q16678 VAR_016034 p.Arg368His LP/P rs79204362 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_018774 p.Ala443Gly US rs4986888 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_018869 p.Ser206Asn LB/B rs9341248 - CYP1B1 Q16678 VAR_018870 p.Arg266Leu LB/B rs9341250 - CYP1B1 Q16678 VAR_028735 p.Gln68Arg LB/B rs9282670 - CYP1B1 Q16678 VAR_028736 p.Tyr81Asn LP/P rs9282671 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_028737 p.Asp441His LB/B rs4986887 - CYP1B1 Q16678 VAR_028738 p.Asp449Glu LB/B rs1056837 - CYP1B1 Q16678 VAR_054227 p.Ser28Trp LP/P rs780002791 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054228 p.Pro52Leu LB/B rs201824781 - CYP1B1 Q16678 VAR_054229 p.Leu77Pro LP/P - Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054230 p.Ala115Pro LP/P rs764338357 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054231 p.Met132Arg LP/P - Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054232 p.Gln144His LB/B - - CYP1B1 Q16678 VAR_054233 p.Gln144Pro LP/P - Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054234 p.Gln144Arg LP/P rs753847648 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054235 p.Arg145Trp LP/P - Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054236 p.Gly184Ser LB/B - - CYP1B1 Q16678 VAR_054237 p.Ala189Pro LB/B rs1326854156 - CYP1B1 Q16678 VAR_054238 p.Asp192Val LP/P - Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054239 p.Pro193Leu LP/P rs529769268 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054240 p.Val198Ile LP/P rs59472972 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054241 p.Asn203Ser LP/P rs1426636145 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054242 p.Ser215Ile LP/P rs72549384 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054243 p.Glu229Lys LP/P rs57865060 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054244 p.Gly232Arg LP/P rs104893628 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054245 p.Ser239Arg LP/P - Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054247 p.Val320Leu US rs72549382 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054248 p.Ala330Phe US - Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054249 p.Ala330Ser LB/B rs752456881 - CYP1B1 Q16678 VAR_054251 p.Leu345Phe LP/P rs66583685 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054253 p.Val364Met LP/P rs72549379 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054254 p.Ala388Thr LP/P - Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054255 p.Arg390Cys LP/P rs148542782 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054256 p.Arg390Ser LP/P rs148542782 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054257 p.Ile399Ser LP/P rs72549378 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054258 p.Val409Phe LP/P rs957253424 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054259 p.Val422Gly LB/B - - CYP1B1 Q16678 VAR_054260 p.Asn423Tyr LP/P rs104893629 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054261 p.Arg444Gln LP/P rs72549376 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054262 p.Phe445Cys LP/P - Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054263 p.Gly466Asp LP/P rs868208502 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054264 p.Glu499Gly LP/P rs72549372 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054265 p.Ser515Leu US - Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054266 p.Val518Ala LB/B - - CYP1B1 Q16678 VAR_054267 p.Arg523Thr LP/P - Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054268 p.Asp530Gly LP/P - Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] CYP20A1 Q6UW02 VAR_059153 p.Ser97Leu LB/B rs2043449 - CYP20A1 Q6UW02 VAR_059154 p.Leu346Phe LB/B rs1048013 - CYP21A2 P08686 VAR_001281 p.Pro31Leu LP/P rs9378251 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001282 p.Lys99Arg LB/B rs1268071078 - CYP21A2 P08686 VAR_001283 p.Arg103Lys LB/B rs6474 - CYP21A2 P08686 VAR_001284 p.Pro106Leu LP/P rs550051210 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001285 p.Cys170Tyr LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001286 p.Ile173Asn LP/P rs6475 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001287 p.Asp184Glu LB/B rs397515531 - CYP21A2 P08686 VAR_001288 p.Ile237Asn LP/P rs111647200 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001289 p.Val238Glu LP/P rs12530380 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001290 p.Met240Lys LP/P rs6476 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001291 p.Ser269Thr LB/B rs6472 - CYP21A2 P08686 VAR_001292 p.Val282Leu LP/P rs6471 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001293 p.Gly292Ser LP/P rs201552310 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001294 p.Arg340His LP/P rs72552754 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001295 p.Arg342Trp LP/P rs72552755 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001296 p.Arg357Pro LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001297 p.Arg357Gln LP/P rs574370139 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001298 p.Arg357Trp LP/P rs7769409 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001299 p.Glu381Asp LP/P rs72552756 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001300 p.Pro454Ser LP/P rs6445 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001301 p.Arg484Pro LP/P rs200005406 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001302 p.Ser494Asn LB/B rs6473 - CYP21A2 P08686 VAR_007923 p.Gly65Glu LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_007924 p.Ala363Val LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_018364 p.His63Leu LP/P rs9378252 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_018365 p.Gly292Arg LP/P rs201552310 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_018366 p.Ser302Tyr LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_018367 p.Arg342Pro LP/P rs747079101 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_018368 p.Arg484Gln LP/P rs200005406 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026059 p.Ala16Thr US rs63749090 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026060 p.Pro31Gln LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026061 p.Gly91Val LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026062 p.Arg125His LP/P rs72552750 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026063 p.Gly179Ala LP/P rs72552751 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026064 p.Val212Leu US - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026065 p.Leu262Pro LP/P rs750337015 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026066 p.Val282Gly LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026067 p.Met284Leu LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026068 p.Gly292Cys LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026069 p.Leu301Phe LP/P rs765001985 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026070 p.Val305Met LB/B rs151344505 - CYP21A2 P08686 VAR_026071 p.Leu318Met LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026072 p.Arg355Cys LP/P rs772900496 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026073 p.Arg355His LP/P rs760216630 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026074 p.Leu364Trp LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026075 p.His366Tyr LP/P rs1330554738 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026076 p.Gly376Ser LB/B rs151344506 - CYP21A2 P08686 VAR_026077 p.Arg409Cys LP/P rs72552757 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026078 p.Gly425Ser LP/P rs72552758 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026079 p.Arg427His LP/P rs151344504 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026080 p.Arg436Cys LP/P rs767333157 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026081 p.Arg480Leu LP/P rs184649564 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026082 p.Pro483Ser LP/P rs776989258 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026083 p.Arg484Trp LP/P rs759736443 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065668 p.Gly57Arg LP/P rs1413433421 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065669 p.Ile78Thr LP/P rs1333278223 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065670 p.Leu108Arg LP/P rs957886272 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065671 p.Lys122Gln LP/P rs547552654 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065672 p.Leu143Pro LP/P rs755020999 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065673 p.Leu168Pro LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065674 p.Ile231Thr LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065675 p.Arg234Lys LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065676 p.Gly293Asp LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065677 p.Glu321Lys LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065678 p.Arg370Trp LP/P rs781074931 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_075372 p.Cys170Arg LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_075373 p.Gly179Arg LP/P rs772317717 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_075374 p.Tyr192His LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_075375 p.Leu199Phe LP/P rs143240527 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_075376 p.His283Asn LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_075377 p.Trp303Arg LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_075378 p.Arg427Cys LP/P rs1370167869 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_077582 p.Leu13Met US - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_077583 p.Arg17Cys LB/B rs757608533 - CYP21A2 P08686 VAR_077584 p.Ser114Phe LP/P rs1296268275 Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_077585 p.Ser203Gly LB/B rs372964292 - CYP21A2 P08686 VAR_077586 p.Pro268Leu LB/B rs61732108 - CYP21A2 P08686 VAR_077588 p.Thr451Met LB/B rs1319651744 - CYP21A2 P08686 VAR_077589 p.Thr451Pro LP/P - Adrenal hyperplasia 3 (AH3) [MIM:201910] CYP24A1 Q07973 VAR_048464 p.Arg157Gln LB/B rs35051736 - CYP24A1 Q07973 VAR_048465 p.Met374Thr LB/B rs6022990 - CYP24A1 Q07973 VAR_048466 p.Leu409Ser LP/P rs6068812 Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880] CYP24A1 Q07973 VAR_066409 p.Arg159Gln LP/P rs387907322 Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880] CYP24A1 Q07973 VAR_066410 p.Glu322Lys LP/P rs387907324 Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880] CYP24A1 Q07973 VAR_066411 p.Arg396Trp LP/P rs114368325 Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880] CYP26B1 Q9NR63 VAR_024383 p.Leu264Ser LB/B rs2241057 - CYP26B1 Q9NR63 VAR_038722 p.Val181Met LB/B rs142999899 - CYP26B1 Q9NR63 VAR_038723 p.Ala185Val LB/B rs765423228 - CYP26B1 Q9NR63 VAR_038724 p.Arg191His LB/B rs76025186 - CYP26B1 Q9NR63 VAR_038725 p.Asp227Asn LB/B rs143738797 - CYP26B1 Q9NR63 VAR_038726 p.Glu380Lys LB/B rs2286965 - CYP26B1 Q9NR63 VAR_038727 p.Ala420Gly LB/B rs7568553 - CYP26B1 Q9NR63 VAR_038728 p.Arg473Cys LB/B rs61751056 - CYP26B1 Q9NR63 VAR_038729 p.Val479Ile LB/B rs148075682 - CYP26B1 Q9NR63 VAR_067923 p.Ser146Pro LP/P rs281875232 Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416] CYP26B1 Q9NR63 VAR_067924 p.Arg363Leu LP/P rs281875231 Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416] CYP26B1 Q9NR63 VAR_075982 p.His64Arg LB/B - - CYP26C1 Q6V0L0 VAR_022886 p.Arg245Gln LB/B rs11187265 - CYP27A1 Q02318 VAR_001303 p.Arg395Cys LP/P rs121908096 Cerebrotendinous xanthomatosis (CTX) [MIM:213700] CYP27A1 Q02318 VAR_001304 p.Arg479Cys LP/P rs72551322 Cerebrotendinous xanthomatosis (CTX) [MIM:213700] CYP27A1 Q02318 VAR_012285 p.Arg395Ser LP/P rs121908096 Cerebrotendinous xanthomatosis (CTX) [MIM:213700] CYP27A1 Q02318 VAR_012286 p.Arg405Gln LP/P rs121908099 Cerebrotendinous xanthomatosis (CTX) [MIM:213700] CYP27A1 Q02318 VAR_012287 p.Arg474Gln LP/P rs121908097 Cerebrotendinous xanthomatosis (CTX) [MIM:213700] CYP27A1 Q02318 VAR_012288 p.Arg474Trp LP/P rs121908098 Cerebrotendinous xanthomatosis (CTX) [MIM:213700] CYP27A1 Q02318 VAR_016966 p.Gly145Glu LP/P rs72551313 Cerebrotendinous xanthomatosis (CTX) [MIM:213700] CYP27A1 Q02318 VAR_048467 p.Thr175Met LB/B rs2229381 - CYP27A1 Q02318 VAR_061046 p.Ala169Val LB/B rs59443548 - CYP27B1 O15528 VAR_016952 p.Arg107His LP/P rs28934604 Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016953 p.Gly125Glu LP/P rs28934605 Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016954 p.Glu189Gly LP/P rs118204012 Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016955 p.Thr321Arg LP/P rs118204007 Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016956 p.Arg335Pro LP/P rs28934606 Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016957 p.Leu343Phe LP/P rs118204011 Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016958 p.Pro382Ser LP/P rs28934607 Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016959 p.Arg389His LP/P rs118204009 Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016960 p.Arg389Gly LP/P rs118204010 Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016961 p.Thr409Ile LP/P rs118204008 Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016967 p.Glu189Lys LP/P - Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016968 p.Arg389Cys LP/P rs118204010 Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016969 p.Gln65His LP/P rs868704228 Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016970 p.Ser323Tyr LP/P - Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016971 p.Arg429Pro LP/P rs568165874 Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016972 p.Arg453Cys LP/P rs767480544 Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016973 p.Val478Gly LP/P - Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016974 p.Pro497Arg LP/P rs1161799032 Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_018841 p.Val166Leu LB/B rs8176344 - CYP27C1 Q4G0S4 VAR_033120 p.Thr529Met LB/B rs35075135 - CYP2A13 Q16696 VAR_013835 p.Arg257Cys LB/B rs8192789 - CYP2A13 Q16696 VAR_018334 p.Arg25Gln LB/B rs8192784 - CYP2A13 Q16696 VAR_018335 p.Arg101Gln LB/B rs148044792 - CYP2A13 Q16696 VAR_018337 p.Asp158Glu LB/B rs112337232 - CYP2A13 Q16696 VAR_018338 p.Phe453Tyr LB/B rs72547590 - CYP2A13 Q16696 VAR_018339 p.Arg494Cys LB/B rs138870349 - CYP2A13 Q16696 VAR_018356 p.Val323Leu LB/B - - CYP2A6 P11509 VAR_001249 p.Leu160His LB/B rs1801272 - CYP2A6 P11509 VAR_008356 p.Gly479Val LB/B rs5031017 - CYP2A6 P11509 VAR_011577 p.Arg128Gln LB/B rs4986891 - CYP2A6 P11509 VAR_011578 p.Ile471Thr LB/B rs5031016 - CYP2A6 P11509 VAR_011579 p.Arg485Leu LB/B rs28399468 - CYP2A6 P11509 VAR_018330 p.Gly5Arg LB/B rs28399434 - CYP2A6 P11509 VAR_018331 p.Ser29Asn LB/B rs28399435 - CYP2A6 P11509 VAR_018332 p.Lys194Glu LB/B rs199916117 - CYP2A6 P11509 VAR_018333 p.Arg203Ser LB/B rs56256500 - CYP2A6 P11509 VAR_018375 p.Glu419Asp LB/B rs8192730 - CYP2A6 P11509 VAR_024711 p.Phe118Leu LB/B rs28399440 - CYP2A6 P11509 VAR_024712 p.Ser224Pro LB/B rs28399447 - CYP2A6 P11509 VAR_024713 p.Val365Met LB/B rs28399454 - CYP2A6 P11509 VAR_024714 p.Asn418Asp LB/B rs28399463 - CYP2A6 P11509 VAR_024715 p.Lys476Arg LB/B rs6413474 - CYP2A6 P11509 VAR_048448 p.Thr294Ser LB/B rs4997557 - CYP2A6 P11509 VAR_055033 p.Tyr392Phe LB/B rs1809810 - CYP2A6 P11509 VAR_055034 p.Arg203Cys LB/B rs56256500 - CYP2A6 P11509 VAR_055035 p.Val110Leu LB/B rs72549435 - CYP2A6 P11509 VAR_055036 p.Arg128Leu LB/B rs4986891 - CYP2A6 P11509 VAR_055037 p.Ser131Ala LB/B rs59552350 - CYP2A6 P11509 VAR_055038 p.Asn438Tyr LB/B rs143731390 - CYP2A6 P11509 VAR_059149 p.Val292Met LB/B rs2644906 - CYP2A7 P20853 VAR_047815 p.Phe61Ile LB/B rs10425176 - CYP2A7 P20853 VAR_047816 p.Cys64Arg LB/B rs10425169 - CYP2A7 P20853 VAR_047817 p.His274Arg LB/B rs4079366 - CYP2A7 P20853 VAR_047818 p.Ala301Gly LB/B rs2545754 - CYP2A7 P20853 VAR_047819 p.Arg311Cys LB/B rs3869579 - CYP2A7 P20853 VAR_047820 p.Met368Thr LB/B rs2261144 - CYP2A7 P20853 VAR_061043 p.Asp169Glu LB/B rs4142867 - CYP2A7 P20853 VAR_061044 p.Val479Gly LB/B rs12460590 - CYP2B6 P20813 VAR_016924 p.Pro167Ala LB/B rs3826711 - CYP2B6 P20813 VAR_016925 p.Gln172His LB/B rs3745274 - CYP2B6 P20813 VAR_016926 p.Lys262Arg LB/B rs2279343 - CYP2B6 P20813 VAR_016927 p.Arg22Cys LB/B rs8192709 - CYP2B6 P20813 VAR_016928 p.Ser259Arg LB/B rs45482602 - CYP2B6 P20813 VAR_016929 p.Arg487Cys LB/B rs3211371 - CYP2B6 P20813 VAR_016948 p.Lys139Glu LB/B rs12721655 - CYP2B6 P20813 VAR_023563 p.Gln21Leu LB/B rs34883432 - CYP2B6 P20813 VAR_023564 p.Met46Val LB/B rs35303484 - CYP2B6 P20813 VAR_023565 p.Gly99Glu LB/B rs36060847 - CYP2B6 P20813 VAR_023566 p.Arg140Gln LB/B rs35773040 - CYP2B6 P20813 VAR_023567 p.Ile391Asn LB/B rs35979566 - CYP2B6 P20813 VAR_024716 p.Ile328Thr LB/B rs28399499 - CYP2B6 P20813 VAR_025206 p.Thr26Ser LB/B rs33973337 - CYP2B6 P20813 VAR_025207 p.Asp28Gly LB/B rs33980385 - CYP2B6 P20813 VAR_025208 p.Arg29Ser LB/B rs33926104 - CYP2B6 P20813 VAR_025209 p.Asn289Lys LB/B rs34277950 - CYP2B6 P20813 VAR_025210 p.Thr306Ser LB/B rs34698757 - CYP2B6 P20813 VAR_033819 p.Arg29Pro LB/B rs34284776 - CYP2C18 P33260 VAR_001254 p.Thr385Met LB/B rs1126545 - CYP2C19 P33261 VAR_001255 p.Ile331Val LB/B rs3758581 - CYP2C19 P33261 VAR_008357 p.Trp120Arg LB/B rs41291556 - CYP2C19 P33261 VAR_008358 p.Arg132Gln LB/B rs72552267 - CYP2C19 P33261 VAR_008359 p.Arg433Trp LB/B rs56337013 - CYP2C19 P33261 VAR_020123 p.Pro227Leu LB/B rs6413438 - CYP2C19 P33261 VAR_021268 p.Leu17Pro LB/B rs55752064 - CYP2C19 P33261 VAR_021269 p.Ile19Leu LB/B rs17882687 - CYP2C19 P33261 VAR_021270 p.Glu92Asp LB/B rs17878459 - CYP2C19 P33261 VAR_021271 p.Glu122Ala LB/B rs17885179 - CYP2C19 P33261 VAR_021272 p.Arg144His LB/B rs17884712 - CYP2C19 P33261 VAR_021273 p.Arg150His LB/B rs58973490 - CYP2C19 P33261 VAR_021274 p.Arg410Cys LB/B rs17879685 - CYP2C19 P33261 VAR_021275 p.Arg442Cys LB/B rs192154563 - CYP2C19 P33261 VAR_024083 p.Ser51Gly LB/B rs1564657013 - CYP2C19 P33261 VAR_024084 p.Ala161Pro LB/B rs181297724 - CYP2C19 P33261 VAR_024085 p.Arg329His LB/B rs138142612 - CYP2C19 P33261 VAR_024718 p.Met74Thr LB/B rs28399505 - CYP2C19 P33261 VAR_024719 p.Phe168Leu LB/B rs28399510 - CYP2C8 P10632 VAR_001250 p.Glu154Asp LB/B - - CYP2C8 P10632 VAR_001251 p.Asn193Lys LB/B - - CYP2C8 P10632 VAR_001252 p.Lys249Arg LB/B - - CYP2C8 P10632 VAR_001253 p.His411Leu LB/B - - CYP2C8 P10632 VAR_011754 p.Ile264Met LB/B rs1058930 - CYP2C8 P10632 VAR_012238 p.Arg139Lys LB/B rs11572080 - CYP2C8 P10632 VAR_012239 p.Ile269Phe LB/B rs11572103 - CYP2C8 P10632 VAR_012240 p.Lys399Arg LB/B rs10509681 - CYP2C8 P10632 VAR_016947 p.Leu390Ser LB/B rs72558194 - CYP2C8 P10632 VAR_018958 p.Ile244Val LB/B rs11572102 - CYP2C8 P10632 VAR_075541 p.Gly171Ser LB/B rs142886225 - CYP2C8 P10632 VAR_075542 p.Arg186Gly LB/B rs72558195 - CYP2C8 P10632 VAR_075543 p.Ile223Met LB/B - - CYP2C8 P10632 VAR_075544 p.Ala238Pro LB/B rs188934928 - CYP2C8 P10632 VAR_075545 p.Lys247Arg LB/B rs769460274 - CYP2C8 P10632 VAR_075546 p.Lys383Asn LB/B - - CYP2C9 P11712 VAR_008343 p.Arg144Cys LB/B rs1799853 - CYP2C9 P11712 VAR_008344 p.Tyr358Cys LB/B rs1057909 - CYP2C9 P11712 VAR_008345 p.Ile359Leu LB/B rs1057910 - CYP2C9 P11712 VAR_008346 p.Gly417Asp LB/B - - CYP2C9 P11712 VAR_013515 p.Ile359Thr LB/B rs56165452 - CYP2C9 P11712 VAR_013516 p.Asp360Glu LB/B rs28371686 - CYP2C9 P11712 VAR_018862 p.Leu19Ile LB/B rs67807361 - CYP2C9 P11712 VAR_018863 p.Arg150His LB/B rs7900194 - CYP2C9 P11712 VAR_018864 p.His251Arg LB/B rs2256871 - CYP2C9 P11712 VAR_018865 p.Glu272Gly LB/B rs9332130 - CYP2C9 P11712 VAR_018866 p.Arg335Trp LB/B rs28371685 - CYP2C9 P11712 VAR_018867 p.Pro489Ser LB/B rs9332239 - CYP2C9 P11712 VAR_024717 p.Leu413Pro LB/B rs28371687 - CYP2C9 P11712 VAR_075286 p.Arg125His LB/B rs72558189 - CYP2C9 P11712 VAR_075287 p.Arg125Leu LB/B rs72558189 - CYP2C9 P11712 VAR_075288 p.Asn204His LB/B - - CYP2C9 P11712 VAR_075289 p.Ile434Phe LB/B - - CYP2D6 P10635 VAR_001256 p.Gly42Arg LB/B rs5030862 - CYP2D6 P10635 VAR_008336 p.Pro34Ser LB/B rs1065852 - CYP2D6 P10635 VAR_008337 p.Thr107Ile LB/B rs28371706 - CYP2D6 P10635 VAR_008338 p.Gly169Arg LB/B rs5030865 - CYP2D6 P10635 VAR_008339 p.Gly212Glu LB/B rs5030866 - CYP2D6 P10635 VAR_008340 p.Arg296Cys LB/B rs16947 - CYP2D6 P10635 VAR_008341 p.Ser486Thr LB/B rs1135840 - CYP2D6 P10635 VAR_008348 p.His324Pro LB/B rs5030867 - CYP2D6 P10635 VAR_008366 p.Val11Met LB/B rs769258 - CYP2D6 P10635 VAR_008367 p.Arg26His LB/B rs28371696 - CYP2D6 P10635 VAR_008368 p.Arg28Cys LB/B rs138100349 - CYP2D6 P10635 VAR_008369 p.Ala85Val LB/B rs267608310 - CYP2D6 P10635 VAR_008370 p.Ala237Ser LB/B rs28371717 - CYP2D6 P10635 VAR_008371 p.Ile297Leu LB/B rs949717872 - CYP2D6 P10635 VAR_008372 p.Arg343Gly LB/B rs267608295 - CYP2D6 P10635 VAR_008373 p.Ile369Thr LB/B - - CYP2D6 P10635 VAR_008374 p.Glu410Lys LB/B rs769157652 - CYP2D6 P10635 VAR_014633 p.Ser311Leu LB/B rs1800754 - CYP2D6 P10635 VAR_024720 p.Leu91Met LB/B rs28371703 - CYP2D6 P10635 VAR_024721 p.His94Arg LB/B rs28371704 - CYP2D6 P10635 VAR_024722 p.Phe120Ile LB/B rs1135822 - CYP2D6 P10635 VAR_024723 p.Glu155Lys LB/B rs28371710 - CYP2D6 P10635 VAR_024724 p.Glu418Lys LB/B rs28371733 - CYP2D6 P10635 VAR_024725 p.Pro469Ala LB/B rs1135833 - CYP2D6 P10635 VAR_024726 p.His478Tyr LB/B rs28371735 - CYP2D6 P10635 VAR_045679 p.Leu231Pro LB/B rs17002853 - CYP2D6 P10635 VAR_045680 p.Ala300Gly LB/B rs1058170 - CYP2D6 P10635 VAR_045681 p.Arg365His LB/B rs1058172 - CYP2D6 P10635 VAR_059150 p.Arg329Leu LB/B rs3915951 - CYP2D6 P10635 VAR_059151 p.Gly373Ser LB/B rs61737946 - CYP2D6 P10635 VAR_072764 p.Ala5Val LB/B rs773790593 - CYP2D6 P10635 VAR_072765 p.Arg25Gln LB/B rs138417770 - CYP2D6 P10635 VAR_072766 p.Val104Ala LB/B rs76187628 - CYP2D6 P10635 VAR_072767 p.Leu142Ser LB/B rs375135093 - CYP2D6 P10635 VAR_072768 p.Lys147Arg LB/B rs569229126 - CYP2D6 P10635 VAR_072769 p.Cys161Ser LB/B - - CYP2D6 P10635 VAR_072770 p.Phe164Leu LB/B - - CYP2D6 P10635 VAR_072771 p.Glu215Lys LB/B rs567606867 - CYP2D6 P10635 VAR_072772 p.Phe219Ser LB/B rs371793722 - CYP2D6 P10635 VAR_072773 p.Thr249Pro LB/B - - CYP2D6 P10635 VAR_072774 p.Val327Met LB/B - - CYP2D6 P10635 VAR_072775 p.Asp336Asn LB/B rs745746329 - CYP2D6 P10635 VAR_072776 p.Asp337Gly LB/B rs748712690 - CYP2D6 P10635 VAR_072777 p.Val342Met LB/B rs750996195 - CYP2D6 P10635 VAR_072778 p.Arg344Gln LB/B rs76088846 - CYP2D6 P10635 VAR_072779 p.Arg440Cys LB/B rs777560972 - CYP2D6 P10635 VAR_072780 p.Phe457Leu LB/B - - CYP2D6 P10635 VAR_072781 p.His463Asp LB/B - - CYP2D6 P10635 VAR_072782 p.Arg497Cys LB/B rs370580423 - CYP2D7 A0A087X1C5 VAR_072632 p.Ser70Asn LB/B rs11090077 - CYP2D7 A0A087X1C5 VAR_072633 p.Ser311Leu LB/B rs1800754 - CYP2D7 A0A087X1C5 VAR_072636 p.His383Arg LB/B rs56127449 - CYP2D7 A0A087X1C5 VAR_072637 p.Lys428Glu LB/B rs2070907 - CYP2E1 P05181 VAR_008360 p.Arg76His LB/B rs72559710 - CYP2E1 P05181 VAR_008361 p.Val179Ile LB/B rs6413419 - CYP2E1 P05181 VAR_008362 p.Val389Ile LB/B rs55897648 - CYP2E1 P05181 VAR_024727 p.His457Leu LB/B rs28969387 - CYP2E1 P05181 VAR_055382 p.Asn219Asp LB/B rs41299426 - CYP2E1 P05181 VAR_055383 p.Ser366Cys LB/B rs41299434 - CYP2F1 P24903 VAR_058863 p.Ser38Pro LB/B rs58285195 - CYP2F1 P24903 VAR_058864 p.Arg98Pro LB/B rs57670668 - CYP2F1 P24903 VAR_058865 p.Asp218Asn LB/B rs305974 - CYP2F1 P24903 VAR_058866 p.Gln266His LB/B rs75405062 - CYP2F1 P24903 VAR_058867 p.Leu391Pro LB/B rs144315434 - CYP2F1 P24903 VAR_058868 p.Pro490Leu LB/B rs7246981 - CYP2J2 P51589 VAR_014317 p.Thr143Ala LB/B rs55753213 - CYP2J2 P51589 VAR_014318 p.Arg158Cys LB/B rs56307989 - CYP2J2 P51589 VAR_014319 p.Ile192Asn LB/B rs66515830 - CYP2J2 P51589 VAR_014320 p.Asp342Asn LB/B rs56053398 - CYP2J2 P51589 VAR_014321 p.Asn404Tyr LB/B rs72547598 - CYP2J2 P51589 VAR_022084 p.Asn124Ser LB/B rs2228113 - CYP2J2 P51589 VAR_029159 p.Arg49Ser LB/B rs11572190 - CYP2J2 P51589 VAR_029160 p.Val113Met LB/B rs11572242 - CYP2R1 Q6VVX0 VAR_021534 p.Leu99Pro LP/P rs61495246 Rickets vitamin D-dependent 1B (VDDR1B) [MIM:600081] CYP2R1 Q6VVX0 VAR_075532 p.Lys242Asn US - - CYP2S1 Q96SQ9 VAR_033820 p.Pro466Leu LB/B rs34971233 - CYP2U1 Q7Z449 VAR_069575 p.Cys262Arg LP/P rs397514515 Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum (SPG56) [MIM:615030] CYP2U1 Q7Z449 VAR_069576 p.Asp316Val LP/P rs397514513 Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum (SPG56) [MIM:615030] CYP2U1 Q7Z449 VAR_069577 p.Glu380Gly LP/P rs397514514 Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum (SPG56) [MIM:615030] CYP2U1 Q7Z449 VAR_069578 p.Arg488Trp LP/P rs141431913 Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum (SPG56) [MIM:615030] CYP2W1 Q8TAV3 VAR_027413 p.Ala181Thr LB/B rs3735684 - CYP2W1 Q8TAV3 VAR_071912 p.Glu58Ala LB/B rs1316523256 - CYP2W1 Q8TAV3 VAR_071913 p.Val432Ile LB/B rs78873069 - CYP2W1 Q8TAV3 VAR_071914 p.Gln482His LB/B rs773499447 - CYP2W1 Q8TAV3 VAR_071915 p.Pro488Leu LB/B rs3808348 - CYP39A1 Q9NYL5 VAR_031609 p.Arg23Pro LB/B rs12192544 - CYP39A1 Q9NYL5 VAR_031610 p.Arg103His LB/B rs2277119 - CYP39A1 Q9NYL5 VAR_031611 p.Tyr288His LB/B rs17856332 - CYP39A1 Q9NYL5 VAR_031612 p.Asn324Lys LB/B rs7761731 - CYP39A1 Q9NYL5 VAR_083092 p.Lys329Gln LB/B rs41273654 - CYP3A4 P08684 VAR_008363 p.Ser222Pro LB/B rs55785340 - CYP3A4 P08684 VAR_008364 p.Met445Thr LB/B rs4986910 - CYP3A4 P08684 VAR_011597 p.Leu15Pro LB/B rs12721634 - CYP3A4 P08684 VAR_011598 p.Gly56Asp LB/B rs56324128 - CYP3A4 P08684 VAR_011599 p.Ile118Val LB/B rs55951658 - CYP3A4 P08684 VAR_011600 p.Arg130Gln LB/B rs72552799 - CYP3A4 P08684 VAR_011601 p.Arg162Gln LB/B rs4986907 - CYP3A4 P08684 VAR_011602 p.Val170Ile LB/B rs72552798 - CYP3A4 P08684 VAR_011603 p.Asp174His LB/B rs4986908 - CYP3A4 P08684 VAR_011604 p.Thr185Ser LB/B rs12721627 - CYP3A4 P08684 VAR_011605 p.Pro218Arg LB/B rs55901263 - CYP3A4 P08684 VAR_011606 p.Thr363Met LB/B rs67784355 - CYP3A4 P08684 VAR_011607 p.Leu373Phe LB/B rs12721629 - CYP3A4 P08684 VAR_011608 p.Pro416Leu LB/B rs4986909 - CYP3A4 P08684 VAR_014322 p.Phe189Ser LB/B rs4987161 - CYP3A4 P08684 VAR_014323 p.Leu293Pro LB/B rs28371759 - CYP3A4 P08684 VAR_014324 p.Pro467Ser LB/B rs4986913 - CYP3A4 P08684 VAR_037547 p.Lys96Glu LB/B rs3091339 - CYP3A4 P08684 VAR_037548 p.Ser252Ala LB/B rs3208363 - CYP3A4 P08684 VAR_037549 p.Thr349Asn LB/B rs10250778 - CYP3A4 P08684 VAR_037550 p.Ile431Thr LB/B rs1041988 - CYP3A4 P08684 VAR_084337 p.Ile301Thr LP/P rs1815413655 Vitamin D-dependent rickets 3 (VDDR3) [MIM:619073] CYP3A43 Q9HB55 VAR_018052 p.Pro340Ala LB/B rs680055 - CYP3A43 Q9HB55 VAR_048449 p.Thr27Ala LB/B rs45558032 - CYP3A43 Q9HB55 VAR_048450 p.Met145Ile LB/B rs45450092 - CYP3A43 Q9HB55 VAR_048451 p.Met275Ile LB/B rs45621431 - CYP3A5 P20815 VAR_008365 p.Thr398Asn LB/B rs28365083 - CYP3A5 P20815 VAR_024728 p.His30Tyr LB/B rs28383468 - CYP3A5 P20815 VAR_024729 p.Asp277Glu LB/B rs28383477 - CYP3A5 P20815 VAR_024730 p.Ala337Thr LB/B rs28383479 - CYP3A5 P20815 VAR_024731 p.Arg28Cys LB/B rs55817950 - CYP3A5 P20815 VAR_024732 p.Gln200Arg LB/B rs56411402 - CYP3A5 P20815 VAR_024733 p.Phe446Ser LB/B rs41279854 - CYP3A5 P20815 VAR_029161 p.Ile371Val LB/B rs28365092 - CYP3A5 P20815 VAR_029162 p.Ile488Thr LB/B rs28365085 - CYP3A7 P24462 VAR_020124 p.Thr409Arg LB/B rs2257401 - CYP3A7 P24462 VAR_055564 p.Val71Ala LB/B rs45580339 - CYP4A11 Q02928 VAR_019160 p.Phe434Ser LB/B rs1126742 - CYP4A11 Q02928 VAR_044377 p.Ser353Gly LB/B rs3899049 - CYP4A11 Q02928 VAR_048452 p.Asn226Ser LB/B rs12759923 - CYP4A22 Q5TCH4 VAR_044349 p.Arg11Cys LB/B rs76011927 - CYP4A22 Q5TCH4 VAR_044350 p.Lys121Arg LB/B rs2758717 - CYP4A22 Q5TCH4 VAR_044351 p.Arg126Trp LB/B rs12564525 - CYP4A22 Q5TCH4 VAR_044352 p.Gly130Ser LB/B rs2056900 - CYP4A22 Q5TCH4 VAR_044353 p.Asn152Tyr LB/B rs2056899 - CYP4A22 Q5TCH4 VAR_044354 p.Val185Phe LB/B rs4926581 - CYP4A22 Q5TCH4 VAR_044355 p.Ser226Asn LB/B rs35202523 - CYP4A22 Q5TCH4 VAR_044356 p.Cys230Ser LB/B rs35156123 - CYP4A22 Q5TCH4 VAR_044357 p.Cys231Arg LB/B rs10789501 - CYP4A22 Q5TCH4 VAR_044358 p.Lys276Thr LB/B rs6661132 - CYP4A22 Q5TCH4 VAR_044359 p.Leu428Pro LB/B rs2405599 - CYP4A22 Q5TCH4 VAR_044360 p.Met491Ile LB/B rs2758714 - CYP4A22 Q5TCH4 VAR_044361 p.Leu509Phe LB/B rs4926600 - CYP4A22 Q5TCH4 VAR_061045 p.Tyr104Phe LB/B rs61507155 - CYP4B1 P13584 VAR_018357 p.Arg173Trp LB/B rs4646487 - CYP4B1 P13584 VAR_018358 p.Ser322Gly LB/B rs45467195 - CYP4B1 P13584 VAR_018359 p.Met331Ile LB/B rs2297810 - CYP4B1 P13584 VAR_018360 p.Arg340Cys LB/B rs4646491 - CYP4B1 P13584 VAR_018361 p.Val345Ile LB/B rs1557501779 - CYP4B1 P13584 VAR_018362 p.Arg375Cys LB/B rs2297809 - CYP4B1 P13584 VAR_048453 p.Arg264Trp LB/B rs45446505 - CYP4B1 P13584 VAR_048454 p.Tyr329Ser LB/B rs12094024 - CYP4B1 P13584 VAR_048455 p.Phe354Cys LB/B rs17102592 - CYP4B1 P13584 VAR_048456 p.Arg482Gln LB/B rs45622937 - CYP4B1 P13584 VAR_055377 p.Ala111Val LB/B rs45559437 - CYP4B1 P13584 VAR_055378 p.Arg274Gln LB/B rs45578838 - CYP4F11 Q9HBI6 VAR_060265 p.Arg146Cys LB/B rs57519667 - CYP4F11 Q9HBI6 VAR_060266 p.Cys276Arg LB/B rs8104361 - CYP4F11 Q9HBI6 VAR_071198 p.Asp446Asn LB/B rs1060463 - CYP4F12 Q9HCS2 VAR_013244 p.Pro13Leu LB/B rs16995376 - CYP4F12 Q9HCS2 VAR_013245 p.Asn76Asp LB/B rs609636 - CYP4F12 Q9HCS2 VAR_013246 p.Val90Ile LB/B rs609290 - CYP4F12 Q9HCS2 VAR_013247 p.Arg188Cys LB/B rs2285888 - CYP4F12 Q9HCS2 VAR_048459 p.Thr16Met LB/B rs16995378 - CYP4F12 Q9HCS2 VAR_048460 p.Ser522Gly LB/B rs593818 - CYP4F2 P78329 VAR_013116 p.Ser7Tyr LB/B rs3093104 - CYP4F2 P78329 VAR_013117 p.Trp12Gly LB/B rs3093105 - CYP4F2 P78329 VAR_013118 p.Gly185Val LB/B rs3093153 - CYP4F2 P78329 VAR_013119 p.Val433Met LB/B rs2108622 - CYP4F2 P78329 VAR_013120 p.Leu519Met LB/B rs3093200 - CYP4F2 P78329 VAR_020125 p.Ala269Asp LB/B rs1599353639 - CYP4F22 Q6NT55 VAR_033118 p.Ser178Cys LB/B rs16980531 - CYP4F22 Q6NT55 VAR_033119 p.Lys505Gln LB/B rs7256787 - CYP4F22 Q6NT55 VAR_037441 p.Phe59Leu LP/P rs118091316 Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777] CYP4F22 Q6NT55 VAR_037442 p.Arg243His LP/P rs118203937 Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777] CYP4F22 Q6NT55 VAR_037443 p.Arg372Trp LP/P rs201129618 Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777] CYP4F22 Q6NT55 VAR_037444 p.His435Tyr LP/P rs118203935 Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777] CYP4F22 Q6NT55 VAR_037445 p.His436Asp LP/P rs118203936 Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777] CYP4F3 Q08477 VAR_001258 p.Ala269Asp LB/B rs1805040 - CYP4F3 Q08477 VAR_020664 p.Val270Ile LB/B rs28371536 - CYP4F3 Q08477 VAR_020665 p.Ile271Thr LB/B rs28371479 - CYP4F3 Q08477 VAR_048457 p.His96Gln LB/B rs34923393 - CYP4F3 Q08477 VAR_048458 p.Tyr106Cys LB/B rs35888783 - CYP4F8 P98187 VAR_038347 p.Tyr125Phe LB/B rs2072600 - CYP4F8 P98187 VAR_038348 p.Pro447Gln LB/B rs2056822 - CYP4V2 Q6ZWL3 VAR_023084 p.Trp44Arg LP/P rs119103282 Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] CYP4V2 Q6ZWL3 VAR_023085 p.Gly61Ser LP/P rs119103285 Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] CYP4V2 Q6ZWL3 VAR_023086 p.Glu79Asp LP/P rs199476185 Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] CYP4V2 Q6ZWL3 VAR_023087 p.Ile111Thr LP/P rs119103283 Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] CYP4V2 Q6ZWL3 VAR_023088 p.Met123Val LP/P rs149684063 Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] CYP4V2 Q6ZWL3 VAR_023089 p.His331Pro LP/P rs199476197 Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] CYP4V2 Q6ZWL3 VAR_023090 p.Ser341Pro LP/P rs199476199 Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] CYP4V2 Q6ZWL3 VAR_023091 p.Arg508His LP/P rs119103284 Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] CYP4V2 Q6ZWL3 VAR_033821 p.Gln259Lys LB/B rs13146272 - CYP4V2 Q6ZWL3 VAR_038606 p.Leu22Val LB/B rs1055138 - CYP4V2 Q6ZWL3 VAR_038607 p.Ser213Asn LB/B rs34331648 - CYP4V2 Q6ZWL3 VAR_055379 p.Glu275Lys LB/B rs34745240 - CYP4V2 Q6ZWL3 VAR_055380 p.Val372Ile LB/B rs61755911 - CYP4V2 Q6ZWL3 VAR_055381 p.Arg443Gln LB/B rs72646291 - CYP4Z1 Q86W10 VAR_048461 p.Pro393Leu LB/B rs28463559 - CYP51A1 Q16850 VAR_023470 p.Val19Ala LB/B rs2229188 - CYP7A1 P22680 VAR_001259 p.Phe100Ser LB/B - - CYP7A1 P22680 VAR_018376 p.Asn233Ser LB/B rs8192874 - CYP7A1 P22680 VAR_018377 p.Asp347Asn LB/B rs8192875 - CYP7A1 P22680 VAR_059152 p.His86Asn LB/B rs62621283 - CYP7B1 O75881 VAR_044382 p.Gly57Arg LP/P rs121908614 Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] CYP7B1 O75881 VAR_044383 p.Phe216Ser LP/P rs121908612 Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] CYP7B1 O75881 VAR_044384 p.Ser363Phe LP/P rs121908610 Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] CYP7B1 O75881 VAR_044385 p.Arg417His LP/P rs121908611 Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] CYP7B1 O75881 VAR_075505 p.Leu19Pro LB/B rs72554624 - CYP7B1 O75881 VAR_075506 p.Gly87Val LP/P rs587777221 Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] CYP7B1 O75881 VAR_075507 p.His106Tyr LB/B - - CYP7B1 O75881 VAR_075508 p.Gly147Asp US rs754730601 Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] CYP7B1 O75881 VAR_075509 p.Gly198Arg US rs1805436635 Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] CYP7B1 O75881 VAR_075510 p.His285Leu LP/P rs750781606 Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] CYP7B1 O75881 VAR_075511 p.Leu287Ser LB/B - - CYP7B1 O75881 VAR_075512 p.Thr297Ala LP/P rs587777222 Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] CYP7B1 O75881 VAR_075514 p.Arg324His LB/B rs59035258 - CYP7B1 O75881 VAR_075515 p.Arg417Cys LP/P rs367916692 Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] CYP7B1 O75881 VAR_075516 p.Gly443Ala LP/P rs1190562443 Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] CYP7B1 O75881 VAR_075517 p.Phe470Ile LP/P rs267606758 Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] CYP7B1 O75881 VAR_075518 p.Arg486Cys LP/P rs116171274 Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] CYP8B1 Q9UNU6 VAR_010381 p.Arg234His LB/B rs199955644 - CYP8B1 Q9UNU6 VAR_055102 p.Ser88Pro LB/B rs9865715 - CYP8B1 Q9UNU6 VAR_055103 p.Lys238Arg LB/B rs35764459 - CYP8B1 Q9UNU6 VAR_055104 p.Leu357Phe LB/B rs35637877 - CYREN Q9BWK5 VAR_039320 p.Pro82Leu US rs776124276 A colorectal cancer sample CYRIB Q9NUQ9 VAR_019704 p.Asn169Lys LB/B - - CYSTM1 Q9H1C7 VAR_034629 p.Cys90Ser LB/B rs17852164 - CYTH4 Q9UIA0 VAR_051920 p.Met74Val LB/B rs16998061 - CYTIP O60759 VAR_023534 p.Asp37Asn LB/B rs1042038 - CYTIP O60759 VAR_051287 p.Gln83Glu LB/B rs2229345 - CYTIP O60759 VAR_064706 p.Pro329Ser US - - CYTL1 Q9NRR1 VAR_050940 p.Ser51Leu LB/B rs35755546 - CYTL1 Q9NRR1 VAR_050941 p.Arg136Cys LB/B rs11722554 - CYYR1 Q96J86 VAR_044042 p.Arg95His LB/B rs35253087 - CYYR1 Q96J86 VAR_044043 p.Pro111Ser LB/B rs1215339708 - D2HGDH Q8N465 VAR_025889 p.Arg15Gly LB/B rs4675887 - D2HGDH Q8N465 VAR_025890 p.Ile147Ser US rs121434361 D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_025891 p.Asp375Tyr US rs267606759 D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_025892 p.Gly436Val US - - D2HGDH Q8N465 VAR_025893 p.Asn439Asp US rs121434362 D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_025894 p.Val444Ala US rs121434360 D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_050433 p.Val338Ile LB/B rs1106639 - D2HGDH Q8N465 VAR_050434 p.Ala361Val LB/B rs1105273 - D2HGDH Q8N465 VAR_084974 p.Ser109Trp US rs142050154 D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_084975 p.Asn127Lys US rs762857195 D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_084976 p.Gly131Val US - D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_084977 p.Met153Thr US - D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_084978 p.Met153Val US rs1432270139 D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_084980 p.Cys172Tyr US rs773735172 D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_084981 p.Pro189Leu US rs587783517 D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_084982 p.Ala205Val US rs750889931 D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_084983 p.Ala231Val US - D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_084984 p.Gly233Ser US rs374535734 D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_084985 p.Val399Met US rs746519212 D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_084987 p.Arg419His US rs199908032 D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_084988 p.Ala426Thr US rs146578303 D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_084989 p.Ala446Val US rs746956176 D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_084990 p.Gly477Arg US rs1453924640 D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] DAAM2 Q86T65 VAR_055805 p.Arg105His LB/B rs6919807 - DAAM2 Q86T65 VAR_055806 p.Arg617His LB/B rs34699846 - DAAM2 Q86T65 VAR_085585 p.Glu121Gln US - Nephrotic syndrome 24 (NPHS24) [MIM:619263] DAAM2 Q86T65 VAR_085586 p.Arg335Gln US - Nephrotic syndrome 24 (NPHS24) [MIM:619263] DAAM2 Q86T65 VAR_085588 p.Pro582His US - Nephrotic syndrome 24 (NPHS24) [MIM:619263] DAAM2 Q86T65 VAR_085589 p.Ser1028Leu US - Nephrotic syndrome 24 (NPHS24) [MIM:619263] DAB1 O75553 VAR_056857 p.Val71Ile LB/B rs1855377 - DAB2 P98082 VAR_031705 p.Thr586Ile LB/B rs700241 - DAB2 P98082 VAR_050942 p.Ser634Asn LB/B rs3733801 - DAB2IP Q5VWQ8 VAR_056858 p.Ser59Phe LB/B rs7027492 - DACT1 Q9NYF0 VAR_036461 p.Gly124Cys US - A colorectal cancer sample DACT1 Q9NYF0 VAR_036462 p.Ser682Leu US rs1198900887 A colorectal cancer sample DACT1 Q9NYF0 VAR_053057 p.Asp446Asn LB/B rs34015825 - DACT1 Q9NYF0 VAR_053058 p.Ala464Val LB/B rs17832998 - DACT1 Q9NYF0 VAR_053059 p.Ser628Ala LB/B rs17094821 - DACT1 Q9NYF0 VAR_053060 p.Gly697Ser LB/B rs698025 - DACT1 Q9NYF0 VAR_068427 p.Arg45Trp US rs778976254 Neural tube defects (NTD) [MIM:182940] DACT1 Q9NYF0 VAR_068428 p.Asp142Gly US - - DACT1 Q9NYF0 VAR_068429 p.Asn356Lys LP/P - Neural tube defects (NTD) [MIM:182940] DACT1 Q9NYF0 VAR_068430 p.Val702Gly US rs1028180302 - DACT1 Q9NYF0 VAR_068431 p.Asp800Gly LB/B rs773720154 - DACT1 Q9NYF0 VAR_068432 p.Thr808Lys US - - DACT2 Q5SW24 VAR_059969 p.Glu351Gly LB/B rs6925614 - DACT2 Q5SW24 VAR_059970 p.Thr541Pro LB/B rs10945501 - DAD1 P61803 VAR_018825 p.Ala83Thr LB/B rs5742796 - DAG1 Q14118 VAR_024335 p.Ser14Trp LB/B rs2131107 - DAG1 Q14118 VAR_065266 p.Thr192Met LP/P rs193922955 Muscular dystrophy-dystroglycanopathy limb-girdle C9 (MDDGC9) [MIM:613818] DAG1 Q14118 VAR_075809 p.Val74Ile LP/P rs189360006 Muscular dystrophy-dystroglycanopathy limb-girdle C9 (MDDGC9) [MIM:613818] DAG1 Q14118 VAR_075810 p.Asp111Asn LP/P rs117209107 Muscular dystrophy-dystroglycanopathy limb-girdle C9 (MDDGC9) [MIM:613818] DAG1 Q14118 VAR_075811 p.Cys669Phe LP/P rs797045023 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9 (MDDGA9) [MIM:616538] DAGLA Q9Y4D2 VAR_027274 p.Pro889Leu LB/B rs3741252 - DAGLA Q9Y4D2 VAR_049822 p.Gly735Val LB/B rs35056845 - DAGLA Q9Y4D2 VAR_049823 p.Asp945Glu LB/B rs34956386 - DAGLB Q8NCG7 VAR_027275 p.Gln664Arg LB/B rs2303361 - DALRD3 Q5D0E6 VAR_038349 p.Gln299Arg LB/B rs3087866 - DAOA P59103 VAR_014313 p.Arg30Lys LB/B rs2391191 - DAOA P59103 VAR_050943 p.Lys62Glu LB/B rs9558562 - DAP3 P51398 VAR_061811 p.Val240Phe LB/B rs57692591 - DAPK1 P53355 VAR_033235 p.Val416Ile LB/B rs12343465 - DAPK1 P53355 VAR_040420 p.Ala461Ser LB/B - - DAPK1 P53355 VAR_040421 p.Ser519Ala LB/B - - DAPK1 P53355 VAR_040422 p.Cys540Tyr LB/B rs56327474 - DAPK1 P53355 VAR_040423 p.Met941Thr LB/B - - DAPK1 P53355 VAR_040424 p.Arg977Trp LB/B - - DAPK1 P53355 VAR_040425 p.Lys978Asn LB/B - - DAPK1 P53355 VAR_040426 p.Tyr993Cys LB/B - - DAPK1 P53355 VAR_040427 p.Asp994Glu LB/B - - DAPK1 P53355 VAR_040428 p.Glu1005Gln LB/B - - DAPK1 P53355 VAR_040429 p.Asp1007Tyr LB/B - - DAPK1 P53355 VAR_040430 p.Leu1008Pro LB/B - - DAPK1 P53355 VAR_040431 p.Arg1010Cys LB/B rs371784492 - DAPK1 P53355 VAR_040432 p.Thr1018Ala LB/B - - DAPK1 P53355 VAR_040433 p.Met1272Ile LB/B rs56169226 - DAPK1 P53355 VAR_040434 p.Ser1346Asn LB/B rs1056719 - DAPK1 P53355 VAR_040435 p.Gly1405Val LB/B rs36220450 - DAPK1 P53355 VAR_060693 p.Pro591Leu LB/B rs36214022 - DAPK1 P53355 VAR_060694 p.Ile622Met LB/B rs36215047 - DAPK2 Q9UIK4 VAR_040436 p.Arg60Trp LB/B rs56047843 - DAPK2 Q9UIK4 VAR_040437 p.Arg271Trp LB/B rs34270163 - DAPK3 O43293 VAR_040438 p.Thr112Met US - A colorectal adenocarcinoma sample DAPK3 O43293 VAR_040439 p.Asp161Asn US - An ovarian mucinous carcinoma sample DAPK3 O43293 VAR_040440 p.Pro216Ser US - A lung neuroendocrine carcinoma sample DAPL1 A0PJW8 VAR_038402 p.Leu60Pro LB/B rs9869 - DAPL1 A0PJW8 VAR_038403 p.Ala66Thr LB/B rs12535 - DARS1 P14868 VAR_027611 p.Leu426Phe LB/B rs1803165 - DARS1 P14868 VAR_070038 p.Met256Leu LP/P rs886037635 Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] DARS1 P14868 VAR_070039 p.Ala274Val LP/P rs369152939 Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] DARS1 P14868 VAR_070040 p.Asp367Tyr LP/P rs370064817 Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] DARS1 P14868 VAR_070041 p.Arg460His LP/P rs587776985 Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] DARS1 P14868 VAR_070042 p.Pro464Leu LP/P rs148806569 Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] DARS1 P14868 VAR_070043 p.Arg487Cys LP/P rs587776984 Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] DARS1 P14868 VAR_070044 p.Arg494Cys LP/P rs147077598 Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] DARS1 P14868 VAR_070045 p.Arg494Gly LP/P rs147077598 Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] DARS2 Q6PI48 VAR_027612 p.Leu10Val LB/B rs4427454 - DARS2 Q6PI48 VAR_034525 p.Lys196Arg LB/B rs35515638 - DARS2 Q6PI48 VAR_037015 p.Ser45Gly LP/P rs121918209 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037016 p.Cys152Phe LP/P rs121918208 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037017 p.Arg179His LP/P rs121918210 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037018 p.Gln184Lys LP/P rs1469160736 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037019 p.Gln248Lys LP/P rs772489337 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037020 p.Arg263Gln LP/P rs121918207 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037021 p.Asp560Val LP/P rs770525873 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037022 p.Leu613Phe LP/P rs121918212 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037023 p.Leu626Gln LP/P rs121918213 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037024 p.Leu626Val LP/P rs121918205 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037025 p.Tyr629Cys LP/P rs761675657 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DAW1 Q8N136 VAR_026853 p.Thr27Ile LB/B rs11894733 - DAW1 Q8N136 VAR_026854 p.Thr121Ser LB/B rs1715828 - DAW1 Q8N136 VAR_033811 p.Gly259Ser LB/B rs35027781 - DAW1 Q8N136 VAR_033812 p.Leu317Phe LB/B rs35395984 - DAW1 Q8N136 VAR_035891 p.Thr129Met US rs113776284 A breast cancer sample DAW1 Q8N136 VAR_088357 p.Asn143Asp LB/B rs1265774517 - DAW1 Q8N136 VAR_088358 p.Ser364Thr LB/B rs541693633 - DAW1 Q8N136 VAR_088359 p.Trp372Cys US - - DAZAP1 Q96EP5 VAR_035480 p.Ser381Thr US - A breast cancer sample DAZAP2 Q15038 VAR_061639 p.Ser102Ala LB/B rs57917280 - DAZL Q92904 VAR_017780 p.Thr12Ala LB/B rs11710967 - DAZL Q92904 VAR_017781 p.Thr54Ala LB/B rs121918346 - DAZL Q92904 VAR_069231 p.Arg115Gly US - - DBF4 Q9UBU7 VAR_052970 p.Tyr112Asn LB/B rs1476703 - DBF4 Q9UBU7 VAR_052971 p.His575Arg LB/B rs2041049 - DBH P09172 VAR_002196 p.Ala318Ser LB/B rs4531 - DBH P09172 VAR_013947 p.Ala211Thr LB/B rs5320 - DBH P09172 VAR_013948 p.Arg549Cys LB/B rs6271 - DBH P09172 VAR_014706 p.Glu181Gln LB/B rs5319 - DBH P09172 VAR_014707 p.Lys239Asn LB/B rs5321 - DBH P09172 VAR_014708 p.Glu250Gln LB/B rs5323 - DBH P09172 VAR_014709 p.Asp290Asn LB/B rs5324 - DBH P09172 VAR_014710 p.Leu317Pro LB/B rs5325 - DBH P09172 VAR_022758 p.Val101Met LP/P rs267606760 Orthostatic hypotension 1 (ORTHYP1) [MIM:223360] DBH P09172 VAR_022759 p.Asp114Glu LP/P rs77576840 Orthostatic hypotension 1 (ORTHYP1) [MIM:223360] DBH P09172 VAR_022760 p.Asp345Asn LP/P rs267606761 Orthostatic hypotension 1 (ORTHYP1) [MIM:223360] DBH P09172 VAR_048838 p.Gly12Ser LB/B rs5318 - DBI P07108 VAR_048160 p.Asp39Asn LB/B rs8192504 - DBI P07108 VAR_048161 p.Met71Val LB/B rs8192506 - DBI P07108 VAR_048162 p.Gly86Arg LB/B rs8192507 - DBN1 Q16643 VAR_035910 p.Glu278Lys US - A breast cancer sample DBN1 Q16643 VAR_035911 p.Glu640Gln US - A breast cancer sample DBN1 Q16643 VAR_047365 p.Ile446Val LB/B rs2544809 - DBN1 Q16643 VAR_047366 p.Ser553Pro LB/B rs28538572 - DBR1 Q9UK59 VAR_086073 p.Leu13Gly LP/P - Encephalitis, acute, infection (viral)-induced, 11 (IIAE11) [MIM:619441] DBR1 Q9UK59 VAR_086074 p.Tyr17His LP/P - Encephalitis, acute, infection (viral)-induced, 11 (IIAE11) [MIM:619441] DBR1 Q9UK59 VAR_086075 p.Ile120Thr LP/P - Encephalitis, acute, infection (viral)-induced, 11 (IIAE11) [MIM:619441] DBT P11182 VAR_004978 p.Phe276Cys LP/P rs121964999 Maple syrup urine disease 2 (MSUD2) [MIM:248600] DBT P11182 VAR_015099 p.Ile98Met LP/P rs121965001 Maple syrup urine disease 2 (MSUD2) [MIM:248600] DBT P11182 VAR_015100 p.Gly384Ser LB/B rs12021720 - DBX2 Q6ZNG2 VAR_034969 p.Met171Val LB/B rs2731038 - DCAF1 Q9Y4B6 VAR_051486 p.Asn267Asp LB/B rs3749318 - DCAF1 Q9Y4B6 VAR_051487 p.Leu378Phe LB/B rs17712228 - DCAF1 Q9Y4B6 VAR_051488 p.Leu1031Pro LB/B rs9835229 - DCAF11 Q8TEB1 VAR_020121 p.Arg207His LB/B rs3825584 - DCAF12 Q5T6F0 VAR_035322 p.Arg131Gln LB/B rs11557154 - DCAF12L1 Q5VU92 VAR_035323 p.Asp19Gly LB/B rs11095722 - DCAF12L2 Q5VW00 VAR_062104 p.His147Gln LB/B rs10126452 - DCAF13 Q9NV06 VAR_037035 p.Ile42Val LB/B rs3134253 - DCAF13 Q9NV06 VAR_037036 p.Asn70Ser LB/B rs13272825 - DCAF16 Q9NXF7 VAR_034917 p.Asn45Ser LB/B rs34085539 - DCAF16 Q9NXF7 VAR_034918 p.Thr129Ile LB/B rs7690457 - DCAF17 Q5H9S7 VAR_050711 p.His185Gln LB/B rs3731984 - DCAF4 Q8WV16 VAR_027908 p.Trp22Cys LB/B rs2302588 - DCAF4 Q8WV16 VAR_027909 p.Lys193Thr LB/B rs17856582 - DCAF4 Q8WV16 VAR_027910 p.Asn266Ser LB/B rs7155812 - DCAF4 Q8WV16 VAR_027911 p.Leu334Phe LB/B rs17856583 - DCAF4 Q8WV16 VAR_027912 p.Ser345Cys LB/B rs3815460 - DCAF4 Q8WV16 VAR_027913 p.Arg439Ile LB/B rs17856584 - DCAF6 Q58WW2 VAR_035020 p.Val547Ala LB/B rs11558511 - DCAF8 Q5TAQ9 VAR_071265 p.Arg317Cys LP/P rs587777425 Giant axonal neuropathy 2, autosomal dominant (GAN2) [MIM:610100] DCAF8L1 A6NGE4 VAR_038060 p.Arg549Trp LB/B rs12388557 - DCAF8L2 P0C7V8 VAR_045620 p.Thr345Ala LB/B rs5926895 - DCAKD Q8WVC6 VAR_038406 p.Asn84Ile LB/B rs17850104 - DCANP1 Q8TF63 VAR_025758 p.Thr75Pro LB/B rs1031844 - DCANP1 Q8TF63 VAR_025759 p.Asn97Asp LB/B rs12520809 - DCBLD2 Q96PD2 VAR_050944 p.Ile144Met LB/B rs9838238 - DCBLD2 Q96PD2 VAR_050945 p.Asp723Asn LB/B rs16840208 - DCC P43146 VAR_003909 p.Met168Thr US rs121912967 A esophageal carcinoma DCC P43146 VAR_003910 p.Arg201Gly LB/B rs2229080 - DCC P43146 VAR_003911 p.Pro1375His US rs387906555 A colorectal carcinoma DCC P43146 VAR_024495 p.Met1017Val LB/B rs984274 - DCC P43146 VAR_035511 p.Phe1039Ser US - A colorectal cancer sample DCC P43146 VAR_056043 p.Ile759Met LB/B rs2278339 - DCC P43146 VAR_060257 p.Phe23Leu LB/B rs9951523 - DCC P43146 VAR_060258 p.Leu679Arg LB/B rs2271042 - DCC P43146 VAR_060259 p.His1191Leu LB/B rs2270950 - DCC P43146 VAR_079146 p.Arg597Pro US rs1057519056 Mirror movements 1 (MRMV1) [MIM:157600] DCC P43146 VAR_079147 p.Met743Leu US rs199651452 Mirror movements 1 (MRMV1) [MIM:157600] DCC P43146 VAR_079148 p.Val754Met US rs775565634 Mirror movements 1 (MRMV1) [MIM:157600] DCC P43146 VAR_079149 p.Val793Gly LP/P rs1057519054 Mirror movements 1 (MRMV1) [MIM:157600] DCC P43146 VAR_079150 p.Gly805Glu LP/P rs1057519055 Mirror movements 1 (MRMV1) [MIM:157600] DCC P43146 VAR_079151 p.Ala893Thr US rs1057519057 Mirror movements 1 (MRMV1) [MIM:157600] DCC P43146 VAR_079152 p.Met1217Val US rs1057519058 Mirror movements 1 (MRMV1) [MIM:157600] DCC P43146 VAR_079153 p.Ala1250Thr US rs748112308 Mirror movements 1 (MRMV1) [MIM:157600] DCC P43146 VAR_079287 p.Gln691Lys US rs1555652216 Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development (HGPPS2) [MIM:617542] DCDC1 M0R2J8 VAR_033767 p.Val83Met LB/B rs2761591 - DCDC1 M0R2J8 VAR_037284 p.Glu7Gly LB/B rs11031357 - DCDC2 Q9UHG0 VAR_022890 p.Ser221Gly LB/B rs2274305 - DCDC2 Q9UHG0 VAR_050946 p.Pro152Ala LB/B rs33914824 - DCDC2 Q9UHG0 VAR_050947 p.Lys456Asn LB/B rs9460973 - DCDC2 Q9UHG0 VAR_074667 p.Gln424Pro LP/P rs794729665 Deafness, autosomal recessive, 66 (DFNB66) [MIM:610212] DCDC2 Q9UHG0 VAR_077245 p.Lys17Asn LP/P rs1042640142 Sclerosing cholangitis, neonatal (NSC) [MIM:617394] DCHS1 Q96JQ0 VAR_036110 p.Arg1583Trp US rs148882462 A colorectal cancer sample DCHS1 Q96JQ0 VAR_048577 p.Thr1949Met LB/B rs4758443 - DCHS1 Q96JQ0 VAR_048578 p.Val2331Ile LB/B rs7924553 - DCHS1 Q96JQ0 VAR_048579 p.Arg2359Cys LB/B rs2659875 - DCHS1 Q96JQ0 VAR_061074 p.Leu2172Gln LB/B rs56920123 - DCHS1 Q96JQ0 VAR_070928 p.Asn2370Ile LP/P rs483352919 Van Maldergem syndrome 1 (VMLDS1) [MIM:601390] DCHS1 Q96JQ0 VAR_075048 p.Pro197Leu US rs145099391 Mitral valve prolapse 2 (MVP2) [MIM:607829] DCHS1 Q96JQ0 VAR_075049 p.Arg2330Cys LP/P rs768737101 Mitral valve prolapse 2 (MVP2) [MIM:607829] DCHS1 Q96JQ0 VAR_075050 p.Arg2513His US rs201457110 Mitral valve prolapse 2 (MVP2) [MIM:607829] DCLK1 O15075 VAR_045673 p.Gly29Cys US - A gastric adenocarcinoma sample DCLK1 O15075 VAR_045674 p.Thr46Met US - A gastric adenocarcinoma sample DCLK1 O15075 VAR_045675 p.Arg93Gln US rs1366698690 A gastric adenocarcinoma sample DCLK1 O15075 VAR_045676 p.Ser291Phe US - A gastric adenocarcinoma sample DCLK1 O15075 VAR_045677 p.Arg292His LB/B rs56185003 - DCLK2 Q8N568 VAR_040441 p.Gly119Cys LB/B rs56327537 - DCLK2 Q8N568 VAR_040442 p.Arg372His LB/B rs34386880 - DCLK2 Q8N568 VAR_040443 p.Ile583Val LB/B rs35745104 - DCLK2 Q8N568 VAR_073158 p.Val212Met US rs759398144 - DCLK3 Q9C098 VAR_040444 p.Arg24Gln LB/B rs56070233 - DCLK3 Q9C098 VAR_040445 p.Pro108Leu US - A breast infiltrating ductal carcinoma sample DCLK3 Q9C098 VAR_040446 p.Glu422Lys US rs373605259 A colorectal adenocarcinoma sample DCLK3 Q9C098 VAR_040447 p.Ser472Asn US - A lung large cell carcinoma sample DCLK3 Q9C098 VAR_040448 p.Arg554Cys US rs374711533 A lung squamous cell carcinoma sample DCLK3 Q9C098 VAR_040449 p.Gly570Arg US - A renal clear cell carcinoma sample DCLK3 Q9C098 VAR_040450 p.Val596Ala US - A colorectal adenocarcinoma sample DCLK3 Q9C098 VAR_040451 p.Glu633Asp LB/B rs35704209 - DCLRE1A Q6PJP8 VAR_023286 p.Lys58Glu LB/B rs17235066 - DCLRE1A Q6PJP8 VAR_023287 p.Glu59Asp LB/B rs17228665 - DCLRE1A Q6PJP8 VAR_023288 p.Gly71Asp LB/B rs17228672 - DCLRE1A Q6PJP8 VAR_023289 p.Pro287Leu LB/B rs17235094 - DCLRE1A Q6PJP8 VAR_023290 p.Asp317His LB/B rs3750898 - DCLRE1A Q6PJP8 VAR_023291 p.Ile859Phe LB/B rs11196530 - DCLRE1A Q6PJP8 VAR_030574 p.Gly582Trp LB/B rs17855759 - DCLRE1B Q9H816 VAR_023292 p.Arg46Leu LB/B rs28381069 - DCLRE1B Q9H816 VAR_023293 p.His61Tyr LB/B rs11552449 - DCLRE1B Q9H816 VAR_023294 p.Asp462Asn LB/B rs28381079 - DCLRE1B Q9H816 VAR_048891 p.Asn510Tyr LB/B rs35397235 - DCLRE1B Q9H816 VAR_087867 p.Leu142Phe LP/P - Dyskeratosis congenita, autosomal recessive, 8 (DKCB8) [MIM:620133] DCLRE1B Q9H816 VAR_087868 p.Leu142Ser LP/P rs763252884 Dyskeratosis congenita, autosomal recessive, 8 (DKCB8) [MIM:620133] DCLRE1C Q96SD1 VAR_023077 p.His35Asp LP/P rs121908159 Omenn syndrome (OS) [MIM:603554] DCLRE1C Q96SD1 VAR_023078 p.Gly118Val LP/P - Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450] DCLRE1C Q96SD1 VAR_023079 p.Gly135Glu LP/P - Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450] DCLRE1C Q96SD1 VAR_048892 p.Pro171Arg LB/B rs35441642 - DCLRE1C Q96SD1 VAR_048893 p.His243Arg LB/B rs12768894 - DCLRE1C Q96SD1 VAR_048894 p.Ser320Cys LB/B rs41298896 - DCLRE1C Q96SD1 VAR_060689 p.Ala140Val LB/B rs41297016 - DCLRE1C Q96SD1 VAR_060690 p.Gly153Arg LB/B rs41297018 - DCLRE1C Q96SD1 VAR_060691 p.Leu329Met LB/B rs41299658 - DCN P07585 VAR_011975 p.Glu273Gln LB/B rs1803344 - DCN P07585 VAR_014351 p.Thr268Met LB/B rs3138268 - DCP1B Q8IZD4 VAR_047395 p.Asn195Asp LB/B rs12423058 - DCP1B Q8IZD4 VAR_047396 p.Asn216Ser LB/B rs34730825 - DCP1B Q8IZD4 VAR_047397 p.Ser301Thr LB/B rs2470449 - DCP1B Q8IZD4 VAR_047398 p.Arg344His LB/B rs715146 - DCP2 Q8IU60 VAR_059528 p.Leu16Phe LB/B rs33555 - DCPS Q96C86 VAR_027958 p.Gly73Glu LB/B rs11557735 - DCPS Q96C86 VAR_073956 p.Thr316Met LP/P rs137941190 Al-Raqad syndrome (ARS) [MIM:616459] DCST1 Q5T197 VAR_030868 p.Met512Leu LB/B rs11264300 - DCST1 Q5T197 VAR_056859 p.Thr158Ile LB/B rs9427170 - DCSTAMP Q9H295 VAR_051438 p.Asp349Gly LB/B rs3802204 - DCT P40126 VAR_085343 p.Cys40Ser LP/P rs370729240 Albinism, oculocutaneous, 8 (OCA8) [MIM:619165] DCT P40126 VAR_085344 p.Cys61Trp LP/P rs1885297366 Albinism, oculocutaneous, 8 (OCA8) [MIM:619165] DCTN1 Q14203 VAR_001373 p.Ala163Pro LB/B - - DCTN1 Q14203 VAR_015850 p.Gly59Ser LP/P rs121909342 Neuronopathy, distal hereditary motor, autosomal dominant 14 (HMND14) [MIM:607641] DCTN1 Q14203 VAR_048677 p.Leu287Met LB/B rs13420401 - DCTN1 Q14203 VAR_048678 p.Arg495Gln LB/B rs17721059 - DCTN1 Q14203 VAR_063867 p.Gly71Ala LP/P rs67586389 Perry syndrome (PERRYS) [MIM:168605] DCTN1 Q14203 VAR_063868 p.Gly71Glu LP/P rs67586389 Perry syndrome (PERRYS) [MIM:168605] DCTN1 Q14203 VAR_063869 p.Gly71Arg LP/P rs72466485 Perry syndrome (PERRYS) [MIM:168605] DCTN1 Q14203 VAR_063870 p.Thr72Pro LP/P rs72466486 Perry syndrome (PERRYS) [MIM:168605] DCTN1 Q14203 VAR_063871 p.Gln74Pro LP/P rs72466487 Perry syndrome (PERRYS) [MIM:168605] DCTN1 Q14203 VAR_063872 p.Met571Thr LP/P rs121909343 Amyotrophic lateral sclerosis (ALS) [MIM:105400] DCTN1 Q14203 VAR_063873 p.Arg785Trp LP/P rs121909344 Amyotrophic lateral sclerosis (ALS) [MIM:105400] DCTN1 Q14203 VAR_063874 p.Arg1101Lys LP/P rs121909345 Amyotrophic lateral sclerosis (ALS) [MIM:105400] DCTN1 Q14203 VAR_063875 p.Thr1249Ile US rs72466496 Amyotrophic lateral sclerosis (ALS) [MIM:105400] DCTN1 Q14203 VAR_071452 p.Phe52Leu LP/P rs886039227 Perry syndrome (PERRYS) [MIM:168605] DCTN1 Q14203 VAR_071453 p.Tyr78Cys LP/P rs886039229 Perry syndrome (PERRYS) [MIM:168605] DCTN1 Q14203 VAR_073287 p.Tyr670Phe US rs765819985 - DCTN1 Q14203 VAR_076920 p.Ile196Val LB/B rs55862001 - DCTN4 Q9UJW0 VAR_024336 p.Phe342Leu LB/B rs11954652 - DCTN4 Q9UJW0 VAR_024337 p.Ser438Asn LB/B rs3733923 - DCTN4 Q9UJW0 VAR_033847 p.Tyr263Cys LB/B rs35772018 - DCTN4 Q9UJW0 VAR_054037 p.Pro95Thr LB/B rs11550931 - DCUN1D3 Q8IWE4 VAR_072689 p.Gly2Ser US - A cancer DCUN1D3 Q8IWE4 VAR_072690 p.Ser239Phe US - A cancer DCX O43602 VAR_007819 p.Leu43Ser LP/P rs587783521 Lissencephaly, X-linked 1 (LISX1) [MIM:300067] DCX O43602 VAR_007820 p.Ser47Arg LP/P rs104894783 Lissencephaly, X-linked 1 (LISX1) [MIM:300067] DCX O43602 VAR_007820 p.Ser47Arg LP/P rs104894783 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007821 p.Arg59Leu LP/P rs122457137 Lissencephaly, X-linked 1 (LISX1) [MIM:300067] DCX O43602 VAR_007821 p.Arg59Leu LP/P rs122457137 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007822 p.Arg59His LP/P rs122457137 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007823 p.Asp62Asn LP/P rs104894779 Lissencephaly, X-linked 1 (LISX1) [MIM:300067] DCX O43602 VAR_007823 p.Asp62Asn LP/P rs104894779 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007824 p.Arg78Leu LP/P rs104894784 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007825 p.Asp86His LP/P - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007826 p.Gly100Ala LP/P - Lissencephaly, X-linked 1 (LISX1) [MIM:300067] DCX O43602 VAR_007826 p.Gly100Ala LP/P - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007827 p.Arg102Ser LP/P - Lissencephaly, X-linked 1 (LISX1) [MIM:300067] DCX O43602 VAR_007828 p.Tyr125His LP/P rs104894781 Lissencephaly, X-linked 1 (LISX1) [MIM:300067] DCX O43602 VAR_007828 p.Tyr125His LP/P rs104894781 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007829 p.Tyr125Asp LP/P - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007830 p.Arg178Leu LP/P rs587783559 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007831 p.Arg186Cys LP/P rs587783562 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007832 p.Pro191Arg LP/P rs587783566 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007833 p.Arg192Trp LP/P rs104894780 Lissencephaly, X-linked 1 (LISX1) [MIM:300067] DCX O43602 VAR_007833 p.Arg192Trp LP/P rs104894780 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007834 p.Asn200Lys LP/P - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007835 p.Thr203Arg LP/P rs104894782 Lissencephaly, X-linked 1 (LISX1) [MIM:300067] DCX O43602 VAR_007835 p.Thr203Arg LP/P rs104894782 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007836 p.Ile214Thr LP/P rs587783574 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007837 p.Thr222Ile LP/P rs1603423268 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007838 p.Gly223Glu LP/P - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007839 p.Val236Ile LP/P rs1324159050 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007840 p.Ile250Asn LP/P - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007841 p.Ile250Thr LP/P - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007842 p.Gly253Asp LP/P - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_010202 p.Arg78His LB/B rs104894784 - DCX O43602 VAR_010536 p.Arg89Gly LP/P rs104894785 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026022 p.Thr42Ile LP/P - Lissencephaly, X-linked 1 (LISX1) [MIM:300067] DCX O43602 VAR_026023 p.Lys50Asn LP/P rs587783523 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026024 p.Asn60Asp LP/P - Lissencephaly, X-linked 1 (LISX1) [MIM:300067] DCX O43602 VAR_026025 p.Gly67Glu LP/P - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026026 p.Ala71Ser LP/P rs104894786 Lissencephaly, X-linked 1 (LISX1) [MIM:300067] DCX O43602 VAR_026027 p.Leu97Arg LP/P rs587783537 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026028 p.Ile104Thr LP/P - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026029 p.Arg178Cys LP/P rs587783558 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026030 p.Pro191Leu LP/P - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026031 p.Arg196His LP/P rs56030372 Lissencephaly, X-linked 1 (LISX1) [MIM:300067] DCX O43602 VAR_026032 p.Arg196Ser LB/B rs587783568 - DCX O43602 VAR_026033 p.Asn200Ile LP/P - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026034 p.Thr203Ala LP/P rs587783570 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026035 p.Gly223Val LP/P - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026036 p.Phe243Leu LP/P - Lissencephaly, X-linked 1 (LISX1) [MIM:300067] DCX O43602 VAR_026037 p.Ala251Ser LP/P rs587783585 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026038 p.Ala251Val LP/P - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_077482 p.Asp262Gly LP/P rs398124557 Lissencephaly, X-linked 1 (LISX1) [MIM:300067] DCX O43602 VAR_077482 p.Asp262Gly LP/P rs398124557 Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DDB1 Q16531 VAR_023074 p.Leu427Phe LB/B rs28720299 - DDB1 Q16531 VAR_086006 p.Arg188Gln LP/P - White-Kernohan syndrome (WHIKERS) [MIM:619426] DDB1 Q16531 VAR_086007 p.Arg188Trp LP/P - White-Kernohan syndrome (WHIKERS) [MIM:619426] DDB1 Q16531 VAR_086008 p.Glu213Lys LP/P - White-Kernohan syndrome (WHIKERS) [MIM:619426] DDB1 Q16531 VAR_086009 p.Phe429Val LP/P - White-Kernohan syndrome (WHIKERS) [MIM:619426] DDB2 Q92466 VAR_010141 p.Lys244Glu LP/P rs121434639 Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740] DDB2 Q92466 VAR_010142 p.Arg273His LP/P rs121434640 Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740] DDB2 Q92466 VAR_016337 p.Met215Thr LB/B rs4647750 - DDB2 Q92466 VAR_016338 p.Ala293Thr LB/B rs4647751 - DDC P20711 VAR_014788 p.Met17Val LB/B rs6264 - DDC P20711 VAR_014789 p.Pro210Leu LB/B rs6262 - DDC P20711 VAR_014790 p.Met217Val LB/B rs6263 - DDC P20711 VAR_019214 p.Glu61Asp LB/B rs11575292 - DDC P20711 VAR_019215 p.Met239Ile LB/B rs11575377 - DDC P20711 VAR_019216 p.Met239Leu LB/B rs11575376 - DDC P20711 VAR_019217 p.Arg462Gln LB/B rs11575542 - DDC P20711 VAR_019309 p.Gly102Ser LP/P rs137853207 Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDC P20711 VAR_046137 p.Pro47His LP/P rs780542462 Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDC P20711 VAR_046138 p.Ala91Val LP/P rs137853211 Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDC P20711 VAR_046139 p.Ser147Arg LP/P rs137853210 Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDC P20711 VAR_046140 p.Ser250Phe LP/P rs137853208 Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDC P20711 VAR_046141 p.Ala275Thr LP/P rs137853212 Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDC P20711 VAR_046142 p.Phe309Leu LP/P rs137853209 Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDC P20711 VAR_046143 p.Arg347Gln LP/P rs201951824 Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDC P20711 VAR_046144 p.Leu408Ile LP/P - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDHD2 O94830 VAR_036930 p.Thr186Met LB/B rs2306899 - DDHD2 O94830 VAR_069574 p.Asp660His LP/P rs375168720 Spastic paraplegia 54, autosomal recessive (SPG54) [MIM:615033] DDI1 Q8WTU0 VAR_032259 p.Gly136Ser LB/B rs7102675 - DDI1 Q8WTU0 VAR_032260 p.Ser142Gly LB/B rs17856633 - DDI1 Q8WTU0 VAR_032261 p.Gly239Glu LB/B rs17851870 - DDIAS Q8IXT1 VAR_037326 p.Ile217Thr LB/B rs17853911 - DDIAS Q8IXT1 VAR_037327 p.Arg460Ser LB/B rs7947780 - DDIAS Q8IXT1 VAR_037328 p.Asp757Asn LB/B rs35711622 - DDIAS Q8IXT1 VAR_037329 p.Pro795Arg LB/B rs11826199 - DDIAS Q8IXT1 VAR_037330 p.Val842Ile LB/B rs7130899 - DDIT3 P35638 VAR_036000 p.Ala115Val US - A colorectal cancer sample DDIT4L Q96D03 VAR_053971 p.Ser161Phe LB/B rs11553154 - DDN O94850 VAR_059651 p.Glu661Gly LB/B rs10783299 - DDO Q99489 VAR_014939 p.Gln189Glu LB/B rs17622 - DDO Q99489 VAR_014940 p.His230Tyr LB/B rs17621 - DDO Q99489 VAR_014941 p.Leu255Arg LB/B rs17623 - DDO Q99489 VAR_036244 p.Phe136Leu US - A breast cancer sample DDO Q99489 VAR_088719 p.Arg216Gln LB/B rs147072212 - DDO Q99489 VAR_088720 p.Ser308Asn LB/B rs140566457 - DDOST P39656 VAR_047911 p.Arg8Gly LB/B rs537816 - DDOST P39656 VAR_067544 p.Gly217Asp LP/P rs387906831 Congenital disorder of glycosylation 1R (CDG1R) [MIM:614507] DDR1 Q08345 VAR_041492 p.Ser17Gly LB/B rs55901302 - DDR1 Q08345 VAR_041493 p.Val100Ala LB/B rs34544756 - DDR1 Q08345 VAR_041494 p.Arg169Gln LB/B rs55980643 - DDR1 Q08345 VAR_041495 p.Ala170Asp LB/B rs56231803 - DDR1 Q08345 VAR_041496 p.Arg306Trp LB/B rs56024191 - DDR1 Q08345 VAR_041497 p.Ser496Ala US - A lung squamous cell carcinoma sample DDR1 Q08345 VAR_049716 p.Leu833Val LB/B rs2524235 - DDR2 Q16832 VAR_041498 p.Arg105Ser US - A lung large cell carcinoma sample DDR2 Q16832 VAR_041499 p.Met441Ile LB/B rs34722354 - DDR2 Q16832 VAR_041500 p.Arg478Cys LB/B rs34869543 - DDR2 Q16832 VAR_041501 p.Val543Phe LB/B rs55973200 - DDR2 Q16832 VAR_063050 p.Thr713Ile LP/P rs121964865 Spondyloepimetaphyseal dysplasia, short limb-hand type (SEMD-SL) [MIM:271665] DDR2 Q16832 VAR_063051 p.Ile726Arg LP/P rs121964864 Spondyloepimetaphyseal dysplasia, short limb-hand type (SEMD-SL) [MIM:271665] DDR2 Q16832 VAR_063052 p.Arg752Cys LP/P rs121964863 Spondyloepimetaphyseal dysplasia, short limb-hand type (SEMD-SL) [MIM:271665] DDR2 Q16832 VAR_065719 p.Glu113Lys LP/P rs397514747 Spondyloepimetaphyseal dysplasia, short limb-hand type (SEMD-SL) [MIM:271665] DDR2 Q16832 VAR_075417 p.Arg124Trp LP/P - Spondyloepimetaphyseal dysplasia, short limb-hand type (SEMD-SL) [MIM:271665] DDR2 Q16832 VAR_081931 p.Leu610Pro LP/P - Warburg-Cinotti syndrome (WRCN) [MIM:618175] DDR2 Q16832 VAR_081932 p.Tyr740Cys LP/P - Warburg-Cinotti syndrome (WRCN) [MIM:618175] DDRGK1 Q96HY6 VAR_016923 p.Ala303Thr LB/B rs11591 - DDX10 Q13206 VAR_035840 p.Leu566Val US - A breast cancer sample DDX11 Q96FC9 VAR_024808 p.Ile39Ser LB/B - - DDX11 Q96FC9 VAR_024809 p.Gln567Glu LB/B rs2075322 - DDX11 Q96FC9 VAR_024810 p.Thr575Met LB/B rs17857386 - DDX11 Q96FC9 VAR_052175 p.Arg856His LB/B rs1046457 - DDX11 Q96FC9 VAR_052176 p.Cys864Arg LB/B rs3893679 - DDX11 Q96FC9 VAR_052177 p.Cys951Arg LB/B rs1046458 - DDX11 Q96FC9 VAR_052178 p.Trp966Cys LB/B rs14330 - DDX11 Q96FC9 VAR_069099 p.Arg263Gln LP/P rs201968272 Warsaw breakage syndrome (WBRS) [MIM:613398] DDX18 Q9NVP1 VAR_013293 p.Thr94Ser LB/B rs1052637 - DDX18 Q9NVP1 VAR_033857 p.Lys647Arg LB/B rs10179772 - DDX18 Q9NVP1 VAR_035841 p.Gly41Arg US - A breast cancer sample DDX19B Q9UMR2 VAR_052160 p.Val149Leu LB/B rs34607244 - DDX20 Q9UHI6 VAR_057231 p.Ile636Thr LB/B rs197412 - DDX20 Q9UHI6 VAR_057232 p.Arg693Ser LB/B rs197414 - DDX20 Q9UHI6 VAR_057233 p.Ile762Thr LB/B rs85276 - DDX21 Q9NR30 VAR_052161 p.Thr27Ile LB/B rs17556220 - DDX24 Q9GZR7 VAR_052162 p.Glu316Lys LB/B rs35413935 - DDX27 Q96GQ7 VAR_022849 p.Gly766Ser LB/B rs1130146 - DDX28 Q9NUL7 VAR_052163 p.Thr4Ala LB/B rs237831 - DDX31 Q9H8H2 VAR_023065 p.Ile799Val LB/B rs306547 - DDX31 Q9H8H2 VAR_023066 p.Arg843Gln LB/B rs306548 - DDX31 Q9H8H2 VAR_052164 p.Glu153Lys LB/B rs17402080 - DDX31 Q9H8H2 VAR_052165 p.Arg687Gln LB/B rs34246652 - DDX39A O00148 VAR_052166 p.Val142Ile LB/B rs36127505 - DDX3X O00571 VAR_035839 p.Arg294Thr US - A breast cancer sample DDX3X O00571 VAR_075731 p.Ile214Thr LP/P - Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075732 p.Ala233Val LP/P rs796052223 Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075734 p.Leu235Pro LP/P rs796052224 Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075735 p.Val300Phe LP/P - Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075736 p.Arg326His LP/P rs797045025 Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075737 p.Arg351Gln LP/P rs1057518707 Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075738 p.Arg362Cys LP/P rs797045026 Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075739 p.Arg376Cys LP/P rs796052231 Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075740 p.Leu392Pro LP/P rs796052232 Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075741 p.Gln417Pro LP/P rs796052233 Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075742 p.Arg475Gly LP/P rs1064794574 Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075743 p.Arg480Ser LP/P - Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075744 p.Arg488His LP/P rs796052235 Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075745 p.Ile507Thr LP/P rs797045024 Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075746 p.Asn509Ile LP/P - Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075747 p.Ile514Thr LP/P rs796052226 Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075748 p.Arg534His LP/P - Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_075750 p.Pro568Leu LP/P rs1057519430 Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X O00571 VAR_083115 p.Arg528His US - - DDX4 Q9NQI0 VAR_019574 p.Gly148Asp LB/B rs2306259 - DDX4 Q9NQI0 VAR_052159 p.Ile287Val LB/B rs2305123 - DDX41 Q9UJV9 VAR_076360 p.Arg164Trp US rs142143752 Myeloproliferative/lymphoproliferative neoplasms, familial (MPLPF) [MIM:616871] DDX41 Q9UJV9 VAR_076361 p.Ile396Thr US rs747072227 Myeloproliferative/lymphoproliferative neoplasms, familial (MPLPF) [MIM:616871] DDX41 Q9UJV9 VAR_076362 p.Arg525His LP/P rs869312828 Myeloproliferative/lymphoproliferative neoplasms, familial (MPLPF) [MIM:616871] DDX43 Q9NXZ2 VAR_057234 p.Lys625Glu LB/B rs311686 - DDX43 Q9NXZ2 VAR_057235 p.Gln629Arg LB/B rs311685 - DDX46 Q7L014 VAR_028079 p.Glu207Gln LB/B rs10447293 - DDX47 Q9H0S4 VAR_083613 p.Asp8Tyr US rs577622688 - DDX47 Q9H0S4 VAR_083614 p.Gln107Glu US - - DDX49 Q9Y6V7 VAR_033858 p.Arg222His LB/B rs35802425 - DDX49 Q9Y6V7 VAR_033859 p.Ser296Ala LB/B rs35614860 - DDX49 Q9Y6V7 VAR_052167 p.Arg413Trp LB/B rs16995781 - DDX5 P17844 VAR_029241 p.Ser480Ala LB/B rs1140409 - DDX51 Q8N8A6 VAR_055299 p.Arg41Gln LB/B rs17857214 - DDX51 Q8N8A6 VAR_055300 p.Glu134Val LB/B rs17855642 - DDX51 Q8N8A6 VAR_055301 p.Gln175Lys LB/B rs17855639 - DDX51 Q8N8A6 VAR_055302 p.Pro249Leu LB/B rs17857213 - DDX51 Q8N8A6 VAR_055303 p.Gln295Arg LB/B rs1133690 - DDX51 Q8N8A6 VAR_055304 p.Gln406Lys LB/B rs17853968 - DDX51 Q8N8A6 VAR_055305 p.Gln652Lys LB/B rs17853969 - DDX51 Q8N8A6 VAR_061825 p.Ala322Val LB/B rs60927391 - DDX52 Q9Y2R4 VAR_060235 p.Val403Met LB/B rs7216445 - DDX53 Q86TM3 VAR_052168 p.Val62Ala LB/B rs4412516 - DDX53 Q86TM3 VAR_052169 p.Met381Ile LB/B rs5925720 - DDX53 Q86TM3 VAR_052170 p.Arg391Met LB/B rs5926203 - DDX53 Q86TM3 VAR_064707 p.Asn141Thr US - - DDX54 Q8TDD1 VAR_033860 p.Pro821Leu LB/B rs1048889 - DDX54 Q8TDD1 VAR_052171 p.Arg570His LB/B rs35519289 - DDX54 Q8TDD1 VAR_052172 p.Arg693Gln LB/B rs11564 - DDX54 Q8TDD1 VAR_052173 p.Val712Ala LB/B rs10354 - DDX54 Q8TDD1 VAR_083615 p.Trp20Arg US rs774035439 - DDX54 Q8TDD1 VAR_083616 p.Asn216Ser US rs764707570 - DDX54 Q8TDD1 VAR_083617 p.Val286Met US rs148961522 - DDX54 Q8TDD1 VAR_083618 p.Leu298Phe US rs1593005589 - DDX54 Q8TDD1 VAR_083619 p.Arg611Gln US rs777276705 - DDX55 Q8NHQ9 VAR_027789 p.Val101Leu LB/B rs17881657 - DDX55 Q8NHQ9 VAR_027790 p.Glu154Gly LB/B rs17886035 - DDX55 Q8NHQ9 VAR_027791 p.Asn264Ser LB/B rs11057306 - DDX55 Q8NHQ9 VAR_027792 p.Asn556Ser LB/B rs10773019 - DDX59 Q5T1V6 VAR_031424 p.Ile107Val LB/B rs3795634 - DDX59 Q5T1V6 VAR_033001 p.Ser472Arg LB/B rs17854157 - DDX59 Q5T1V6 VAR_035842 p.Pro77Thr US - A breast cancer sample DDX59 Q5T1V6 VAR_070198 p.Val367Gly LP/P rs587777067 Orofaciodigital syndrome 5 (OFD5) [MIM:174300] DDX59 Q5T1V6 VAR_070199 p.Gly534Arg LP/P rs886037652 Orofaciodigital syndrome 5 (OFD5) [MIM:174300] DDX6 P26196 VAR_083368 p.His372Arg LP/P - Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) [MIM:618653] DDX6 P26196 VAR_083369 p.Arg373Gln LP/P - Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) [MIM:618653] DDX6 P26196 VAR_083370 p.Cys390Arg LP/P - Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) [MIM:618653] DDX6 P26196 VAR_083371 p.Thr391Ile LP/P - Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) [MIM:618653] DDX6 P26196 VAR_083372 p.Thr391Pro LP/P - Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) [MIM:618653] DDX60 Q8IY21 VAR_055895 p.Val672Met LB/B rs550625 - DDX60 Q8IY21 VAR_055896 p.Ile998Val LB/B rs576619 - DDX60L Q5H9U9 VAR_055897 p.Cys336Tyr LB/B rs12507582 - DDX60L Q5H9U9 VAR_055898 p.Asn355Lys LB/B rs10029536 - DDX60L Q5H9U9 VAR_055899 p.Val409Leu LB/B rs13151700 - DDX60L Q5H9U9 VAR_055900 p.Ala583Thr LB/B rs2319850 - DDX60L Q5H9U9 VAR_055901 p.Ser1080Cys LB/B rs17540213 - DEAF1 O75398 VAR_013725 p.Glu186Val US rs751727919 A primary colorectal cancer DEAF1 O75398 VAR_013726 p.Lys191Ile US - A primary colorectal cancer DEAF1 O75398 VAR_013727 p.Lys191Asn US - A primary colorectal cancer DEAF1 O75398 VAR_013729 p.Glu202Asp US - A primary colorectal cancer DEAF1 O75398 VAR_013730 p.Arg218Lys US rs1127312 A primary colorectal cancer DEAF1 O75398 VAR_013732 p.Glu356His US - A primary colorectal cancer DEAF1 O75398 VAR_013733 p.Ser364Asn US - A primary colorectal cancer DEAF1 O75398 VAR_013734 p.Gln367His US - A primary colorectal cancer DEAF1 O75398 VAR_013735 p.Val370Leu US - A primary colorectal cancer DEAF1 O75398 VAR_013736 p.Tyr397Phe US - A primary colorectal cancer DEAF1 O75398 VAR_013737 p.Val442Ala US - A primary colorectal cancer DEAF1 O75398 VAR_013738 p.Glu449Lys US - A primary colorectal cancer DEAF1 O75398 VAR_013740 p.Gln468His US - A primary colorectal cancer DEAF1 O75398 VAR_013741 p.His479Leu US - A primary colorectal cancer DEAF1 O75398 VAR_013742 p.Glu498Lys US - A primary colorectal cancer DEAF1 O75398 VAR_013743 p.Thr526Asn US - A primary colorectal cancer DEAF1 O75398 VAR_013744 p.Arg530Leu US - A primary colorectal cancer DEAF1 O75398 VAR_013746 p.Gln542His US - A primary colorectal cancer DEAF1 O75398 VAR_013747 p.Ala545Gly US rs34114147 A primary colorectal cancer DEAF1 O75398 VAR_013748 p.Ala545Val US - A primary colorectal cancer DEAF1 O75398 VAR_065089 p.Ile228Ser LP/P rs587777406 Vulto-van Silfout-de Vries syndrome (VSVS) [MIM:615828] DEAF1 O75398 VAR_071371 p.Arg224Trp LP/P rs587777408 Vulto-van Silfout-de Vries syndrome (VSVS) [MIM:615828] DEAF1 O75398 VAR_071372 p.Arg226Trp LB/B rs587777623 - DEAF1 O75398 VAR_071373 p.Arg254Ser LP/P rs587777409 Vulto-van Silfout-de Vries syndrome (VSVS) [MIM:615828] DEAF1 O75398 VAR_071374 p.Gln264Pro LP/P rs587777407 Vulto-van Silfout-de Vries syndrome (VSVS) [MIM:615828] DECR1 Q16698 VAR_012034 p.Lys333Asn LB/B rs15094 - DEF6 Q9H4E7 VAR_033193 p.Asn287Thr LB/B rs2395617 - DEF6 Q9H4E7 VAR_033194 p.Arg578His LB/B rs9296146 - DEF6 Q9H4E7 VAR_086410 p.Tyr210Asp LP/P - Immunodeficiency 87 and autoimmunity (IMD87) [MIM:619573] DEF6 Q9H4E7 VAR_086412 p.Glu331Lys LP/P rs541285645 Immunodeficiency 87 and autoimmunity (IMD87) [MIM:619573] DEF8 Q6ZN54 VAR_061485 p.Gln90Glu LB/B rs7194844 - DEFA4 P12838 VAR_036315 p.Arg74Gln US rs762433303 A colorectal cancer sample DEFA4 P12838 VAR_048861 p.Ala8Pro LB/B rs28661751 - DEFA4 P12838 VAR_061132 p.Ala8Val LB/B rs28488529 - DEFA5 Q01523 VAR_059245 p.Arg71His LB/B rs7839771 - DEFB1 P60022 VAR_014925 p.Ala48Val LB/B rs1800967 - DEFB1 P60022 VAR_014926 p.Cys67Ser LB/B rs1800968 - DEFB1 P60022 VAR_018405 p.Val38Ile LB/B rs2738047 - DEFB104A Q8WTQ1 VAR_024767 p.Ile10Val LB/B rs2680507 - DEFB108B Q8NET1 VAR_048862 p.Arg36Trp LB/B rs12793731 - DEFB108B Q8NET1 VAR_059246 p.Ile27Val LB/B rs12285436 - DEFB108B Q8NET1 VAR_059247 p.His45Leu LB/B rs12285495 - DEFB108B Q8NET1 VAR_059248 p.Gln53Arg LB/B rs7120658 - DEFB116 Q30KQ4 VAR_048863 p.Gln19Leu LB/B rs6119768 - DEFB118 Q96PH6 VAR_061133 p.Ile56Val LB/B rs34173055 - DEFB125 Q8N687 VAR_061134 p.His62Tyr LB/B rs41276376 - DEFB127 Q9H1M4 VAR_048864 p.Gly31Arg LB/B rs12624954 - DEFB127 Q9H1M4 VAR_048865 p.Arg71Ser LB/B rs16995685 - DEFB128 Q7Z7B8 VAR_048866 p.Lys27Asn LB/B rs4813043 - DEFB129 Q9H1M3 VAR_024327 p.Thr149Ser LB/B rs1053783 - DEGS1 O15121 VAR_082594 p.Met37Thr US - Leukodystrophy, hypomyelinating, 18 (HLD18) [MIM:618404] DEGS1 O15121 VAR_082596 p.Asn113Asp LP/P - Leukodystrophy, hypomyelinating, 18 (HLD18) [MIM:618404] DEGS1 O15121 VAR_082597 p.His132Arg US - Leukodystrophy, hypomyelinating, 18 (HLD18) [MIM:618404] DEGS1 O15121 VAR_082598 p.Arg133Trp LP/P - Leukodystrophy, hypomyelinating, 18 (HLD18) [MIM:618404] DEGS1 O15121 VAR_082600 p.Asn189Asp US - Leukodystrophy, hypomyelinating, 18 (HLD18) [MIM:618404] DEGS1 O15121 VAR_082601 p.Asn255Ser LP/P - Leukodystrophy, hypomyelinating, 18 (HLD18) [MIM:618404] DEGS1 O15121 VAR_082602 p.Ala280Val LP/P - Leukodystrophy, hypomyelinating, 18 (HLD18) [MIM:618404] DEGS2 Q6QHC5 VAR_055698 p.Ala57Thr LB/B rs4905937 - DEGS2 Q6QHC5 VAR_060347 p.Ser8Asn LB/B rs7157599 - DEK P35659 VAR_050949 p.Val140Ala LB/B rs17336208 - DELE1 Q14154 VAR_018272 p.Phe128Leu LB/B rs10036567 - DELE1 Q14154 VAR_018273 p.Ala247Thr LB/B rs351260 - DELE1 Q14154 VAR_028197 p.Ala95Thr LB/B rs17850821 - DELE1 Q14154 VAR_028198 p.Arg468Cys LB/B rs10056676 - DELE1 Q14154 VAR_055940 p.Gly60Asp LB/B rs34438707 - DELEC1 Q9P2X7 VAR_050948 p.Ala60Val LB/B rs2269700 - DENND1B Q6P3S1 VAR_035055 p.Val216Met LB/B rs7546381 - DENND1C Q8IV53 VAR_035056 p.Ala23Thr LB/B rs10416003 - DENND1C Q8IV53 VAR_035057 p.Arg489Cys LB/B rs35001260 - DENND1C Q8IV53 VAR_035058 p.Ala542Val LB/B rs35810378 - DENND2A Q9ULE3 VAR_026856 p.Pro156His LB/B rs269243 - DENND2A Q9ULE3 VAR_026857 p.Glu729Lys LB/B rs2293177 - DENND2A Q9ULE3 VAR_026858 p.Ile777Thr LB/B rs6464833 - DENND2B P78524 VAR_027101 p.Lys316Asn LB/B rs3794153 - DENND2B P78524 VAR_027102 p.Asp399Glu LB/B rs3812762 - DENND2B P78524 VAR_027103 p.Ile620Thr LB/B rs17853683 - DENND2B P78524 VAR_027104 p.Ser774Gly LB/B rs17853682 - DENND2B P78524 VAR_030642 p.Ser657Phe LB/B rs11042047 - DENND2C Q68D51 VAR_026859 p.Asp2Glu LB/B rs7541738 - DENND2C Q68D51 VAR_026860 p.Asp170Gly LB/B rs12136548 - DENND2D Q9H6A0 VAR_050950 p.Ser282Asn LB/B rs35742969 - DENND3 A2RUS2 VAR_035053 p.Ser143Asn LB/B rs307761 - DENND3 A2RUS2 VAR_035054 p.Gln364Arg LB/B rs11997191 - DENND4A Q7Z401 VAR_025362 p.Leu284Pro LB/B rs17854146 - DENND4C Q5VZ89 VAR_022891 p.Thr1266Ala LB/B rs17818730 - DENND4C Q5VZ89 VAR_022892 p.Asn1343His LB/B rs6475322 - DENND4C Q5VZ89 VAR_061640 p.Val1227Gly LB/B rs34267952 - DENND5A Q6IQ26 VAR_028409 p.Glu224Gln LB/B rs952374 - DENND5A Q6IQ26 VAR_078555 p.Asp541Gly US rs1057519309 Developmental and epileptic encephalopathy 49 (DEE49) [MIM:617281] DENND5B Q6ZUT9 VAR_040076 p.Arg52Lys LB/B rs4930979 - DENND5B Q6ZUT9 VAR_040077 p.His487Asn LB/B rs1056320 - DEPDC1 Q5TB30 VAR_059798 p.Ile404Arg LB/B rs3790479 - DEPDC1B Q8WUY9 VAR_031819 p.Arg332Met LB/B rs17856590 - DEPDC1B Q8WUY9 VAR_031820 p.Val395Leu LB/B rs17851707 - DEPDC4 Q8N2C3 VAR_031815 p.His122Arg LB/B rs7307415 - DEPDC5 O75140 VAR_024338 p.Ser491Thr LB/B rs8138516 - DEPDC5 O75140 VAR_053953 p.Ala641Val LB/B rs16989528 - DEPDC5 O75140 VAR_053954 p.Ser712Phe LB/B rs16989535 - DEPDC5 O75140 VAR_069263 p.Ala452Val LP/P rs202226316 Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] DEPDC5 O75140 VAR_069264 p.Arg485Gln LP/P rs886039278 Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] DEPDC5 O75140 VAR_069265 p.Ser1073Arg LP/P rs754608531 Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] DEPDC5 O75140 VAR_069266 p.Ser1104Leu US rs79027628 Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] DEPDC5 O75140 VAR_072363 p.Val90Ile LP/P rs768456731 Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] DEPDC5 O75140 VAR_072364 p.Val272Leu LP/P rs187334123 Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] DEPDC5 O75140 VAR_072365 p.Thr864Met LP/P rs564667614 Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] DEPDC5 O75140 VAR_072366 p.Ser1162Gly LP/P rs886039280 Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] DEPDC5 O75140 VAR_077128 p.His214Asp US rs886039276 Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] DEPDC5 O75140 VAR_077129 p.Gln542Pro US rs886039279 Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] DEPDC5 O75140 VAR_077130 p.Lys1065Arg US rs757609394 Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] DEPDC5 O75140 VAR_077131 p.Thr1081Pro US rs142540948 Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] DEPDC5 O75140 VAR_077132 p.Ser1154Phe US rs578244490 Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] DEPDC5 O75140 VAR_077133 p.Arg1268Gln US rs886039281 Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] DEPDC7 Q96QD5 VAR_053972 p.Ala192Thr LB/B rs34161108 - DEPDC7 Q96QD5 VAR_062212 p.Thr464Ile LB/B rs17852859 - DEPP1 Q9NTK1 VAR_050951 p.Ile44Met LB/B rs11555140 - DEPTOR Q8TB45 VAR_031816 p.Asn148Ser LB/B rs34057546 - DEPTOR Q8TB45 VAR_031817 p.Asn204Ser LB/B rs2271900 - DEPTOR Q8TB45 VAR_031818 p.Ser389Asn LB/B rs4871827 - DERL1 Q9BUN8 VAR_019516 p.Ile171Val LB/B rs2272722 - DERL3 Q96Q80 VAR_019517 p.Ala211Val LB/B rs1128127 - DERL3 Q96Q80 VAR_048897 p.Phe149Leu LB/B rs3177243 - DES P17661 VAR_007900 p.Ala337Pro LP/P rs59962885 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_007901 p.Ala360Pro LP/P rs121913000 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_007902 p.Asn393Ile LP/P rs121913001 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_009189 p.Leu345Pro LP/P rs57639980 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_018771 p.Leu385Pro LP/P rs57955682 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_018772 p.Gln389Pro LP/P rs121913004 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_018773 p.Ile451Met LP/P rs121913002 Cardiomyopathy, dilated, 1I (CMD1I) [MIM:604765] DES P17661 VAR_018773 p.Ile451Met LP/P rs121913002 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_042448 p.Ser2Ile LP/P rs58999456 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_042449 p.Ser46Phe LP/P rs60794845 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_042450 p.Ser46Tyr LP/P rs60794845 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_042451 p.Ala213Val LB/B rs41272699 - DES P17661 VAR_042452 p.Glu245Asp LP/P rs267607486 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_042453 p.Asn342Asp LP/P rs267607482 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_042454 p.Arg350Pro LP/P rs57965306 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_042454 p.Arg350Pro LP/P rs57965306 Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400] DES P17661 VAR_042455 p.Arg355Pro LP/P rs61368398 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_042456 p.Ala357Pro LP/P rs58898021 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_042457 p.Leu370Pro LP/P rs59308628 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_042458 p.Arg406Trp LP/P rs121913003 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_042459 p.Thr442Ile LP/P rs121913005 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_042460 p.Lys449Met LP/P - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_042461 p.Lys449Thr LP/P rs267607485 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_042462 p.Arg454Trp LP/P rs267607490 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_042463 p.Ser460Ile LP/P rs267607491 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_067207 p.Ser7Phe LP/P rs903985237 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_067208 p.Ser13Phe LP/P rs62636495 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_067209 p.Leu338Arg LP/P rs57496341 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_067210 p.Asp399Tyr LP/P rs61130669 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_067211 p.Glu401Lys LP/P rs57694264 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_069074 p.Pro419Ser LP/P rs62635763 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_069191 p.Asn116Ser LP/P rs267607499 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_069192 p.Lys241Glu US rs201945924 - DES P17661 VAR_075228 p.Ala120Asp LP/P rs1954373010 Cardiomyopathy, dilated, 1I (CMD1I) [MIM:604765] DES P17661 VAR_075229 p.Leu136Pro LP/P rs397516695 Cardiomyopathy, dilated, 1I (CMD1I) [MIM:604765] DES P17661 VAR_075230 p.His326Arg US - Cardiomyopathy, dilated, 1I (CMD1I) [MIM:604765] DES P17661 VAR_079048 p.Arg16Cys LP/P rs60798368 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_079049 p.Thr453Ile LP/P rs267607488 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES P17661 VAR_086534 p.Leu398Pro US rs796115330 Cardiomyopathy, dilated, 1I (CMD1I) [MIM:604765] DEUP1 Q05D60 VAR_050759 p.Ser175Phe LB/B rs34205920 - DEUP1 Q05D60 VAR_050760 p.Glu440Gln LB/B rs12288277 - DEUP1 Q05D60 VAR_050761 p.Gln504Lys LB/B rs2259633 - DEUP1 Q05D60 VAR_059601 p.Glu440Gly LB/B rs12282288 - DFFB O76075 VAR_009305 p.Arg196Lys LB/B rs12738235 - DFFB O76075 VAR_048737 p.Lys277Arg LB/B rs12564400 - DGAT2 Q96PD7 VAR_033864 p.Arg317Gly LB/B rs34421064 - DGAT2 Q96PD7 VAR_033865 p.Met361Ile LB/B rs34113941 - DGAT2 Q96PD7 VAR_077236 p.Tyr223His US rs869025595 - DGCR2 P98153 VAR_020046 p.Val473Ala LB/B rs2072123 - DGCR6 Q14129 VAR_033866 p.Ala117Val LB/B rs16983281 - DGCR6L Q9BY27 VAR_055870 p.Val115Leu LB/B rs1056818 - DGCR6L Q9BY27 VAR_055871 p.Asn195Lys LB/B rs1056804 - DGCR8 Q8WYQ5 VAR_050952 p.Ile174Val LB/B rs35987994 - DGCR8 Q8WYQ5 VAR_050953 p.Asn725Asp LB/B rs11546015 - DGKA P23743 VAR_031563 p.His538Tyr LB/B rs17852990 - DGKB Q9Y6T7 VAR_048858 p.Gly789Ser LB/B rs34616903 - DGKE P52429 VAR_036120 p.Leu99Arg US - A breast cancer sample DGKE P52429 VAR_069804 p.Arg63Pro LP/P rs312262694 Hemolytic uremic syndrome, atypical, 7 (AHUS7) [MIM:615008] DGKE P52429 VAR_069805 p.Arg273Pro LP/P rs312262695 Hemolytic uremic syndrome, atypical, 7 (AHUS7) [MIM:615008] DGKG P49619 VAR_020259 p.Thr142Ser LB/B rs1004588 - DGKG P49619 VAR_020260 p.Arg370Trp LB/B rs3213770 - DGKG P49619 VAR_024430 p.Arg316Lys LB/B rs2193587 - DGKG P49619 VAR_036119 p.Glu706Lys US - A breast cancer sample DGKH Q86XP1 VAR_033867 p.Val1201Ala LB/B rs17646069 - DGKI O75912 VAR_010190 p.Leu153Phe LB/B rs61757580 - DGKK Q5KSL6 VAR_048859 p.Asp1118Asn LB/B rs4074320 - DGKQ P52824 VAR_058478 p.Pro27Leu LB/B rs17855876 - DGKZ Q13574 VAR_069059 p.Gln523Lys LB/B rs17854149 - DGLUCY Q7Z3D6 VAR_018738 p.Arg10Cys LB/B rs10142502 - DGLUCY Q7Z3D6 VAR_018739 p.Asp502Asn LB/B rs2295524 - DGLUCY Q7Z3D6 VAR_052599 p.Ser237Asn LB/B rs34302825 - DGLUCY Q7Z3D6 VAR_052600 p.Ala372Thr LB/B rs12895348 - DGLUCY Q7Z3D6 VAR_052601 p.Asp507Asn LB/B rs34523602 - DGLUCY Q7Z3D6 VAR_052602 p.Gly583Asp LB/B rs34748911 - DGUOK Q16854 VAR_019417 p.Arg142Lys LP/P rs104893631 Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880] DGUOK Q16854 VAR_019418 p.Glu227Lys LP/P rs104893632 Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880] DGUOK Q16854 VAR_023789 p.Leu250Ser LP/P rs749464475 Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880] DGUOK Q16854 VAR_076979 p.Glu44Lys LP/P rs762550967 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4) [MIM:617070] DGUOK Q16854 VAR_076980 p.Asn46Ser LP/P rs763615602 Portal hypertension, non-cirrhotic, 1 (NCPH1) [MIM:617068] DGUOK Q16854 VAR_076981 p.Asn154Lys LP/P rs144181978 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4) [MIM:617070] DGUOK Q16854 VAR_076982 p.Gln170Arg LP/P rs74874677 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4) [MIM:617070] DGUOK Q16854 VAR_076983 p.Leu266Arg LB/B rs886037846 - DHCR24 Q15392 VAR_012732 p.Glu191Lys LP/P rs119475041 Desmosterolosis (DESMOS) [MIM:602398] DHCR24 Q15392 VAR_012733 p.Asn294Thr LP/P rs281797257 Desmosterolosis (DESMOS) [MIM:602398] DHCR24 Q15392 VAR_012734 p.Lys306Asn LP/P rs281797256 Desmosterolosis (DESMOS) [MIM:602398] DHCR24 Q15392 VAR_012735 p.Tyr471Ser LP/P rs28939092 Desmosterolosis (DESMOS) [MIM:602398] DHCR24 Q15392 VAR_081889 p.Arg94His LP/P rs387906939 Desmosterolosis (DESMOS) [MIM:602398] DHCR24 Q15392 VAR_081890 p.Glu480Lys LP/P rs387906940 Desmosterolosis (DESMOS) [MIM:602398] DHCR7 Q9UBM7 VAR_012717 p.Pro51Ser LP/P rs104886035 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012718 p.Thr93Met LP/P rs80338853 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012719 p.Leu99Pro LP/P rs104886041 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012720 p.His119Leu LP/P rs28938174 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012721 p.Leu157Pro LP/P rs753960624 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012722 p.Gly244Arg LP/P rs121909764 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012723 p.Ala247Val LP/P rs886041354 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012724 p.Trp248Cys LP/P rs104894212 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012725 p.Thr289Ile LP/P rs121909765 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012726 p.Val326Leu LP/P rs80338859 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012727 p.Arg352Trp LP/P rs80338860 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012728 p.Cys380Ser LP/P - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012729 p.Arg404Cys LP/P rs61757582 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012730 p.Gly410Ser LP/P rs80338862 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_016975 p.Glu448Lys LP/P rs80338864 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023148 p.Leu68Pro LP/P rs104886038 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023149 p.Gln107His LP/P rs104886040 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023150 p.Leu109Pro LP/P rs121912195 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023151 p.Ser113Cys LP/P - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023152 p.Gly138Val LP/P - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023153 p.Ile145Leu LP/P rs1555146475 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023154 p.Gly147Asp LP/P rs777425801 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023155 p.Thr154Met LP/P rs143312232 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023156 p.Ser169Leu LP/P rs80338855 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023157 p.Trp182Cys LP/P - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023158 p.Trp182Leu LP/P rs536394774 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023159 p.Cys183Tyr LP/P - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023160 p.Lys198Glu LP/P - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023161 p.Phe235Ser LP/P rs1555146061 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023162 p.Arg242Cys LP/P rs80338856 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023163 p.Arg242His LP/P rs80338857 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023164 p.Phe255Leu LP/P - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023165 p.Val281Met LP/P rs398123607 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023166 p.Ile297Thr LP/P - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023167 p.Cys311Gly LP/P - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023168 p.Cys311Tyr LP/P - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023169 p.Tyr324His LP/P rs1173707321 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023170 p.Gly344Arg LP/P - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023171 p.Arg352Gln LP/P rs121909768 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023172 p.Val353Ala LP/P - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023173 p.Arg362Cys LP/P rs371302153 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023174 p.Cys380Arg LP/P rs373306653 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023175 p.Cys380Tyr LP/P rs779709646 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023176 p.Ser397Leu LP/P rs773134475 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023177 p.Arg404Ser LP/P rs61757582 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023178 p.His405Tyr LP/P - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023179 p.Tyr408His LP/P rs1046560765 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023180 p.Gly410Arg LP/P rs80338862 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023181 p.His426Pro LP/P rs1354718634 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023182 p.Arg443Cys LP/P rs535561852 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023183 p.Arg446Gln LP/P rs751604696 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023184 p.Glu448Gln LP/P rs80338864 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023185 p.Arg450Leu LP/P rs542266962 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_052154 p.Gly425Ser LB/B rs760242 - DHCR7 Q9UBM7 VAR_067456 p.Ser5Leu LB/B rs1127869 - DHCR7 Q9UBM7 VAR_074180 p.Cys118Arg LB/B - - DHDDS Q86SQ9 VAR_028088 p.Val253Met LB/B rs3816539 - DHDDS Q86SQ9 VAR_065356 p.Lys42Glu LP/P rs147394623 Retinitis pigmentosa 59 (RP59) [MIM:613861] DHDDS Q86SQ9 VAR_080708 p.Arg37His US rs1553121073 Developmental delay and seizures with or without movement abnormalities (DEDSM) [MIM:617836] DHDDS Q86SQ9 VAR_080709 p.Arg211Gln US rs1553122926 Developmental delay and seizures with or without movement abnormalities (DEDSM) [MIM:617836] DHDDS Q86SQ9 VAR_085034 p.Asp95Asn US - - DHDDS Q86SQ9 VAR_085035 p.Arg205Gln US rs1557447255 - DHDH Q9UQ10 VAR_038174 p.Ala2Pro LB/B rs10401800 - DHDH Q9UQ10 VAR_038175 p.Ser66Asn LB/B rs2270941 - DHDH Q9UQ10 VAR_038176 p.Val200Met LB/B rs35453148 - DHDH Q9UQ10 VAR_038177 p.Val247Ala LB/B rs11666105 - DHDH Q9UQ10 VAR_038178 p.Gly282Arg LB/B rs3765148 - DHFR P00374 VAR_065818 p.Leu80Phe LP/P rs387906619 Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839] DHFR P00374 VAR_065819 p.Asp153Val LP/P rs121913223 Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839] DHFR2 Q86XF0 VAR_061135 p.Val166Ile LB/B rs17855824 - DHH O43323 VAR_054873 p.Leu162Pro LP/P rs111033589 46,XY sex reversal 7 (SRXY7) [MIM:233420] DHH O43323 VAR_086513 p.Glu212Lys US rs1480612338 46,XY gonadal dysgenesis with minifascicular neuropathy (GDMN) [MIM:607080] DHODH Q02127 VAR_022094 p.Lys7Gln LB/B rs3213422 - DHODH Q02127 VAR_062412 p.Gly19Glu LP/P rs267606765 Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062413 p.Arg135Cys LP/P rs201230446 Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062414 p.Gly152Arg LP/P rs267606766 Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062415 p.Arg199Cys LP/P rs267606769 Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062416 p.Gly202Ala LP/P rs267606767 Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062417 p.Gly202Asp LP/P rs267606767 Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062418 p.Arg244Trp LP/P rs267606768 Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062419 p.Thr284Ile LP/P - Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062420 p.Arg346Trp LP/P rs201947120 Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062421 p.Asp392Gly LP/P rs779076692 Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHPS P49366 VAR_043005 p.Glu174Asp LB/B rs10425108 - DHPS P49366 VAR_082649 p.Asn173Ser LP/P rs758100382 Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI) [MIM:618480] DHRS1 Q96LJ7 VAR_052318 p.Thr241Ile LB/B rs10134537 - DHRS13 Q6UX07 VAR_037348 p.Arg191Gln LB/B rs2277666 - DHRS13 Q6UX07 VAR_037349 p.Leu336Gln LB/B rs4795472 - DHRS2 Q13268 VAR_035846 p.Ala272Val US rs148991912 A colorectal cancer sample DHRS3 O75911 VAR_067443 p.Val2Ala LB/B rs1128251 - DHRS4 Q9BTZ2 VAR_057272 p.Ala31Thr LB/B rs1043442 - DHRS4 Q9BTZ2 VAR_061846 p.Pro202Ser LB/B rs1043650 - DHRS4L2 Q6PKH6 VAR_037395 p.Met19Leu LB/B rs2273947 - DHRS7 Q9Y394 VAR_052319 p.Arg218Gln LB/B rs34583017 - DHRS7C A6NNS2 VAR_043150 p.Ser227Leu LB/B rs2280490 - DHRS9 Q9BPW9 VAR_052320 p.Asp286His LB/B rs11695788 - DHRSX Q8N5I4 VAR_016100 p.Glu297Lys LB/B rs12010 - DHRSX Q8N5I4 VAR_055354 p.Val247Leu LB/B rs1127915 - DHRSX Q8N5I4 VAR_055355 p.His292Arg LB/B rs3210910 - DHTKD1 Q96HY7 VAR_036715 p.Phe20Leu LB/B rs1279138 - DHTKD1 Q96HY7 VAR_036716 p.Tyr272Asp LB/B rs3740015 - DHTKD1 Q96HY7 VAR_036717 p.Arg308Leu LB/B rs17849603 - DHTKD1 Q96HY7 VAR_036718 p.Asn350Asp LB/B rs34716552 - DHTKD1 Q96HY7 VAR_036719 p.Ile607Met LB/B rs2062988 - DHTKD1 Q96HY7 VAR_069585 p.Gly729Arg LP/P rs117225135 Alpha-aminoadipic and alpha-ketoadipic aciduria (AAKAD) [MIM:204750] DHTKD1 Q96HY7 VAR_085786 p.Leu234Gly US - Alpha-aminoadipic and alpha-ketoadipic aciduria (AAKAD) [MIM:204750] DHTKD1 Q96HY7 VAR_085787 p.Gln305His US rs200922071 Alpha-aminoadipic and alpha-ketoadipic aciduria (AAKAD) [MIM:204750] DHTKD1 Q96HY7 VAR_085789 p.Arg455Gln US rs142068634 Alpha-aminoadipic and alpha-ketoadipic aciduria (AAKAD) [MIM:204750] DHTKD1 Q96HY7 VAR_085790 p.Arg715Cys LP/P rs200788729 Alpha-aminoadipic and alpha-ketoadipic aciduria (AAKAD) [MIM:204750] DHTKD1 Q96HY7 VAR_085791 p.Pro773Leu US rs200355418 Alpha-aminoadipic and alpha-ketoadipic aciduria (AAKAD) [MIM:204750] DHTKD1 Q96HY7 VAR_085792 p.Ser777Pro US rs1172299330 Alpha-aminoadipic and alpha-ketoadipic aciduria (AAKAD) [MIM:204750] DHX16 O60231 VAR_057236 p.Lys352Glu LB/B rs17189239 - DHX16 O60231 VAR_057237 p.Leu502Phe LB/B rs17189232 - DHX16 O60231 VAR_057238 p.Asp566Gly LB/B rs9262138 - DHX16 O60231 VAR_083621 p.Gly427Glu LP/P - Neuromuscular oculoauditory syndrome (NMOAS) [MIM:618733] DHX16 O60231 VAR_083622 p.Phe582Ile US - Neuromuscular oculoauditory syndrome (NMOAS) [MIM:618733] DHX16 O60231 VAR_083623 p.Thr674Met US - Neuromuscular oculoauditory syndrome (NMOAS) [MIM:618733] DHX16 O60231 VAR_083624 p.Gln697His US - Neuromuscular oculoauditory syndrome (NMOAS) [MIM:618733] DHX29 Q7Z478 VAR_026985 p.Pro630His LB/B rs17854904 - DHX29 Q7Z478 VAR_052180 p.Asp309Ala LB/B rs35874395 - DHX30 Q7L2E3 VAR_080611 p.Arg493His LP/P rs1057519436 Neurodevelopmental disorder with variable motor and language impairment (NEDMIAL) [MIM:617804] DHX30 Q7L2E3 VAR_080612 p.His562Arg LP/P rs1060499733 Neurodevelopmental disorder with variable motor and language impairment (NEDMIAL) [MIM:617804] DHX30 Q7L2E3 VAR_080613 p.Gly781Asp LP/P rs1553706775 Neurodevelopmental disorder with variable motor and language impairment (NEDMIAL) [MIM:617804] DHX30 Q7L2E3 VAR_080614 p.Arg782Trp LP/P rs753242774 Neurodevelopmental disorder with variable motor and language impairment (NEDMIAL) [MIM:617804] DHX30 Q7L2E3 VAR_080615 p.Arg785Cys LP/P rs1085307451 Neurodevelopmental disorder with variable motor and language impairment (NEDMIAL) [MIM:617804] DHX30 Q7L2E3 VAR_080616 p.Arg785His LP/P rs1553706799 Neurodevelopmental disorder with variable motor and language impairment (NEDMIAL) [MIM:617804] DHX32 Q7L7V1 VAR_035843 p.Pro209Arg US - A breast cancer sample DHX32 Q7L7V1 VAR_052181 p.Glu271Asp LB/B rs11244674 - DHX32 Q7L7V1 VAR_052182 p.Asp301Ala LB/B rs35772239 - DHX32 Q7L7V1 VAR_052183 p.Val430Leu LB/B rs17153669 - DHX33 Q9H6R0 VAR_057239 p.Arg118Cys LB/B rs8069315 - DHX33 Q9H6R0 VAR_057240 p.His483Asp LB/B rs11653658 - DHX34 Q14147 VAR_057241 p.Arg17Trp LB/B rs12984558 - DHX34 Q14147 VAR_057242 p.Gly117Asp LB/B rs8113564 - DHX34 Q14147 VAR_083626 p.Asn441Ser US rs549149043 - DHX34 Q14147 VAR_083627 p.Arg776Pro US rs764483792 - DHX35 Q9H5Z1 VAR_020211 p.Pro703Leu LB/B rs3752302 - DHX35 Q9H5Z1 VAR_052184 p.Ile189Thr LB/B rs36053162 - DHX36 Q9H2U1 VAR_027140 p.Glu151Lys LB/B rs1058299 - DHX36 Q9H2U1 VAR_027141 p.Ser416Cys LB/B rs9438 - DHX36 Q9H2U1 VAR_027142 p.Ile583Asn LB/B rs17853513 - DHX37 Q8IY37 VAR_052185 p.Arg458Gln LB/B rs11057939 - DHX37 Q8IY37 VAR_052186 p.Lys508Asn LB/B rs35165507 - DHX37 Q8IY37 VAR_052187 p.Val717Ile LB/B rs35016004 - DHX37 Q8IY37 VAR_052188 p.Ser869Gly LB/B rs4516060 - DHX37 Q8IY37 VAR_052189 p.Arg1081Gln LB/B rs4447263 - DHX37 Q8IY37 VAR_061826 p.Met96Ile LB/B rs11558556 - DHX37 Q8IY37 VAR_083628 p.Arg93Gln US rs575837056 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (NEDBAVC) [MIM:618731] DHX37 Q8IY37 VAR_083629 p.Glu167Ser US - Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (NEDBAVC) [MIM:618731] DHX37 Q8IY37 VAR_083630 p.Thr304Met LP/P rs1954619788 46,XY sex reversal 11 (SRXY11) [MIM:273250] DHX37 Q8IY37 VAR_083631 p.Arg308Gln LP/P rs1384892917 46,XY sex reversal 11 (SRXY11) [MIM:273250] DHX37 Q8IY37 VAR_083632 p.Arg334Leu US - 46,XY sex reversal 11 (SRXY11) [MIM:273250] DHX37 Q8IY37 VAR_083633 p.Arg334Trp US - 46,XY sex reversal 11 (SRXY11) [MIM:273250] DHX37 Q8IY37 VAR_083634 p.Asp382Gly US rs1424699115 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (NEDBAVC) [MIM:618731] DHX37 Q8IY37 VAR_083635 p.Asn419Lys US rs1060499737 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (NEDBAVC) [MIM:618731] DHX37 Q8IY37 VAR_083636 p.Leu467Val US rs149331610 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (NEDBAVC) [MIM:618731] DHX37 Q8IY37 VAR_083637 p.Arg487His US rs779613772 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (NEDBAVC) [MIM:618731] DHX37 Q8IY37 VAR_083638 p.Ser595Phe LP/P rs1954346640 46,XY sex reversal 11 (SRXY11) [MIM:273250] DHX37 Q8IY37 VAR_083639 p.Ser626Leu US - 46,XY sex reversal 11 (SRXY11) [MIM:273250] DHX37 Q8IY37 VAR_083640 p.Arg674Gln LP/P rs1954336215 46,XY sex reversal 11 (SRXY11) [MIM:273250] DHX37 Q8IY37 VAR_083641 p.Arg674Trp LP/P rs1954336272 46,XY sex reversal 11 (SRXY11) [MIM:273250] DHX37 Q8IY37 VAR_083642 p.Val731Met US rs754186165 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (NEDBAVC) [MIM:618731] DHX37 Q8IY37 VAR_083643 p.Gly1030Glu US rs754141645 46,XY sex reversal 11 (SRXY11) [MIM:273250] DHX37 Q8IY37 VAR_083644 p.Thr1094Met US rs1277857720 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (NEDBAVC) [MIM:618731] DHX38 Q92620 VAR_015518 p.Thr1217Ala LB/B - - DHX38 Q92620 VAR_081338 p.Arg324Gln LP/P rs766053952 Retinitis pigmentosa 84 (RP84) [MIM:618220] DHX38 Q92620 VAR_081339 p.Gly332Asp US rs587777554 Retinitis pigmentosa 84 (RP84) [MIM:618220] DHX57 Q6P158 VAR_033861 p.Ser433Gly LB/B rs35371077 - DHX57 Q6P158 VAR_052190 p.Ser410Phe LB/B rs11893062 - DHX57 Q6P158 VAR_052191 p.Asn587Ser LB/B rs7598922 - DHX58 Q96C10 VAR_019394 p.Gln425Arg LB/B rs2074158 - DHX58 Q96C10 VAR_019395 p.Arg523Gln LB/B rs2074160 - DHX58 Q96C10 VAR_049336 p.Thr76Ala LB/B rs34891485 - DHX58 Q96C10 VAR_049337 p.Arg95Gln LB/B rs35118457 - DHX58 Q96C10 VAR_083645 p.Trp8Cys US rs200502586 - DHX8 Q14562 VAR_052174 p.Ala1069Gly LB/B rs34285079 - DHX8 Q14562 VAR_083620 p.Arg168Trp US - - DHX9 Q08211 VAR_052179 p.Ile894Val LB/B rs1049264 - DIABLO Q9NR28 VAR_066487 p.Ser126Leu LP/P rs387906893 Deafness, autosomal dominant, 64 (DFNA64) [MIM:614152] DIAPH1 O60610 VAR_079874 p.Pro678Ser LP/P rs186370335 Deafness, autosomal dominant 1, with or without thrombocytopenia (DFNA1) [MIM:124900] DIAPH2 O60879 VAR_049095 p.Phe425Leu LB/B rs20361 - DIAPH2 O60879 VAR_049096 p.Leu426Val LB/B rs20361 - DIAPH3 Q9NSV4 VAR_049097 p.Asn363Ser LB/B rs36084898 - DIAPH3 Q9NSV4 VAR_049098 p.Phe773Leu LB/B rs35579086 - DIAPH3 Q9NSV4 VAR_049099 p.Glu1041Gly LB/B rs7491389 - DICER1 Q9UPY3 VAR_063150 p.Leu1583Arg LP/P rs137852976 Pleuropulmonary blastoma (PPB) [MIM:601200] DICER1 Q9UPY3 VAR_065301 p.Ser839Phe LP/P rs387906934 Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1) [MIM:138800] DICER1 Q9UPY3 VAR_067091 p.Glu1705Lys US - Non-epithelial ovarian tumor DICER1 Q9UPY3 VAR_067092 p.Asp1709Glu US - Non-epithelial ovarian tumor DICER1 Q9UPY3 VAR_067093 p.Asp1709Gly US rs1555366979 Non-epithelial ovarian tumor DICER1 Q9UPY3 VAR_067094 p.Asp1709Asn US - Non-epithelial ovarian tumor DICER1 Q9UPY3 VAR_067095 p.Asp1810His US - Non-epithelial ovarian tumor DICER1 Q9UPY3 VAR_067096 p.Asp1810Asn US rs775912475 Non-epithelial ovarian tumor DICER1 Q9UPY3 VAR_067097 p.Asp1810Tyr US - Non-epithelial ovarian tumor DICER1 Q9UPY3 VAR_067098 p.Glu1813Gly US - Non-epithelial ovarian tumor DICER1 Q9UPY3 VAR_067099 p.Glu1813Lys US - Non-epithelial ovarian tumor DICER1 Q9UPY3 VAR_067100 p.Glu1813Gln US - Non-epithelial ovarian tumor DICER1 Q9UPY3 VAR_081917 p.Pro435Leu US - - DICER1 Q9UPY3 VAR_081918 p.Asp1709Tyr LP/P - Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272] DICER1 Q9UPY3 VAR_081919 p.Asp1713Val LP/P - Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272] DICER1 Q9UPY3 VAR_081920 p.Arg1898Gly US - - DIDO1 Q9BTC0 VAR_028310 p.Pro13Leu LB/B rs6090161 - DIDO1 Q9BTC0 VAR_028311 p.Pro276Leu LB/B rs6090160 - DIDO1 Q9BTC0 VAR_057093 p.Met544Thr LB/B rs1883848 - DIDO1 Q9BTC0 VAR_057094 p.Ala556Thr LB/B rs1883847 - DIDO1 Q9BTC0 VAR_057095 p.Ala793Gly LB/B rs750077 - DIDO1 Q9BTC0 VAR_057096 p.Pro1220Gln LB/B rs6011441 - DIDO1 Q9BTC0 VAR_061740 p.Ser1708Cys LB/B rs41282984 - DIO1 P49895 VAR_087106 p.Asn94Lys LP/P rs754694815 Thyroid hormone metabolism, abnormal, 2 (THMA2) [MIM:619855] DIO1 P49895 VAR_087107 p.Met201Ile LP/P rs201420507 Thyroid hormone metabolism, abnormal, 2 (THMA2) [MIM:619855] DIO2 Q92813 VAR_047549 p.Thr92Ala LB/B rs225014 - DIO2 Q92813 VAR_049640 p.Ala81Asp LB/B rs2839859 - DIP2A Q14689 VAR_047372 p.Pro191Ala LB/B rs7283507 - DIP2A Q14689 VAR_047373 p.Ser372Asn LB/B rs16979312 - DIP2B Q9P265 VAR_038861 p.Ile792Val LB/B rs11169525 - DIP2C Q9Y2E4 VAR_035905 p.Ala586Glu US - A breast cancer sample DIP2C Q9Y2E4 VAR_035906 p.Gly622Ser US rs771008735 A colorectal cancer sample DIP2C Q9Y2E4 VAR_035907 p.Val1264Met US rs929297365 A breast cancer sample DIPK1B Q5VUD6 VAR_032295 p.Ser158Gly LB/B rs945384 - DIPK2B Q9H7Y0 VAR_047103 p.Arg128Lys LB/B rs1132201 - DIPK2B Q9H7Y0 VAR_047104 p.Arg146Gln LB/B rs9969 - DIRC1 Q969H9 VAR_022549 p.Ser51Ala LB/B rs72902678 - DIRC1 Q969H9 VAR_061641 p.Leu92Ser LB/B rs58846152 - DIS3 Q9Y2L1 VAR_023099 p.Asn269Ser LB/B rs4883918 - DIS3 Q9Y2L1 VAR_023100 p.Thr326Arg LB/B rs7332388 - DIS3L Q8TF46 VAR_038056 p.Ile518Val LB/B rs34668776 - DIS3L Q8TF46 VAR_038057 p.Asp614Gly LB/B rs3803412 - DIS3L Q8TF46 VAR_038058 p.Asn747Ser LB/B rs17258507 - DIS3L2 Q8IYB7 VAR_038059 p.Pro12Ser LB/B rs723044 - DIS3L2 Q8IYB7 VAR_067577 p.Arg483Gly LB/B rs186865544 - DIS3L2 Q8IYB7 VAR_067578 p.Cys489Tyr LP/P rs387907116 Perlman syndrome (PRLMNS) [MIM:267000] DIS3L2 Q8IYB7 VAR_067579 p.Arg576His LB/B rs200386096 - DIS3L2 Q8IYB7 VAR_079527 p.Met443Lys US - Perlman syndrome (PRLMNS) [MIM:267000] DISC1 Q9NRI5 VAR_022437 p.Arg264Gln LB/B rs3738401 - DISC1 Q9NRI5 VAR_022438 p.Ser704Cys LB/B rs821616 - DISC1 Q9NRI5 VAR_026704 p.Leu607Phe LB/B rs6675281 - DISC1 Q9NRI5 VAR_030422 p.Gly5Val LB/B rs3738400 - DISC1 Q9NRI5 VAR_050954 p.Leu330Phe LB/B rs34622148 - DISC1 Q9NRI5 VAR_061642 p.Ala116Val LB/B rs56020408 - DISC1 Q9NRI5 VAR_061643 p.Thr328Asn LB/B rs55795950 - DISC1 Q9NRI5 VAR_061644 p.Gly531Arg LB/B rs56229136 - DISP1 Q96F81 VAR_037077 p.Glu103Lys LB/B rs2609383 - DISP2 A7MBM2 VAR_037078 p.Pro47Ala LB/B rs1898883 - DISP2 A7MBM2 VAR_037079 p.Cys56Ser LB/B rs1898882 - DISP2 A7MBM2 VAR_037080 p.Gly388Glu LB/B rs35043215 - DISP2 A7MBM2 VAR_037081 p.Gly1145Ser LB/B rs2412512 - DISP2 A7MBM2 VAR_037082 p.Arg1247Trp LB/B rs3743142 - DISP3 Q9P2K9 VAR_036796 p.Leu51Val LB/B rs3738159 - DISP3 Q9P2K9 VAR_036797 p.Gly182Ser LB/B rs2817580 - DISP3 Q9P2K9 VAR_036798 p.Ala650Thr LB/B rs2072994 - DISP3 Q9P2K9 VAR_036799 p.Gly661Ala LB/B rs2072993 - DISP3 Q9P2K9 VAR_036800 p.Arg948His LB/B rs12096312 - DISP3 Q9P2K9 VAR_061496 p.Gly39Arg LB/B rs41274528 - DIXDC1 Q155Q3 VAR_032294 p.Lys300Arg LB/B rs34575249 - DKC1 O60832 VAR_006811 p.Phe36Val LP/P rs121912293 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_006813 p.Pro40Arg LP/P rs121912292 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_006814 p.Leu72Tyr LP/P rs121912294 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_006815 p.Gly402Glu LP/P rs121912295 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_009264 p.Ala353Val LP/P rs121912288 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_009264 p.Ala353Val LP/P rs121912288 Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000] DKC1 O60832 VAR_010076 p.Ala2Val LP/P rs121912303 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_010077 p.Lys39Glu LP/P rs121912296 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_010078 p.Glu41Lys LP/P rs121912302 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_010079 p.Arg65Thr LP/P rs121912301 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_010080 p.Thr66Ala LP/P rs121912297 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_010081 p.Leu321Val LP/P rs2728726 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_010082 p.Met350Ile LP/P rs121912298 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_010083 p.Met350Thr LP/P rs121912300 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_010084 p.Gly402Arg LP/P rs121912299 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_015674 p.Ile38Thr LP/P rs28936072 Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000] DKC1 O60832 VAR_015675 p.Thr49Met LP/P rs121912304 Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000] DKC1 O60832 VAR_015676 p.Ser121Gly LP/P rs121912305 Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000] DKC1 O60832 VAR_022553 p.Gly223Asp LB/B rs2728533 - DKC1 O60832 VAR_063821 p.Leu56Ser LP/P rs121912287 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_063822 p.Leu72Phe LP/P rs121912306 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_063823 p.Leu317Phe LP/P rs121912290 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_063824 p.Arg322Gln LP/P rs121912291 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_063825 p.Pro409Leu LP/P rs121912289 Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_080707 p.Leu54Val LP/P - Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1 O60832 VAR_088623 p.Glu206Lys LP/P - Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 (CHINE1) [MIM:301108] DKK2 Q9UBU2 VAR_021966 p.Arg146Gln LB/B rs17037102 - DKK3 Q9UBP4 VAR_030787 p.Arg335Gly LB/B rs3206824 - DKK3 Q9UBP4 VAR_057516 p.Glu49Asp LB/B rs11544816 - DKKL1 Q9UK85 VAR_021967 p.Met109Arg LB/B rs2303759 - DKKL1 Q9UK85 VAR_021968 p.Glu214Lys LB/B rs2288481 - DKKL1 Q9UK85 VAR_024432 p.Ala29Thr LB/B rs919364 - DKKL1 Q9UK85 VAR_053061 p.Leu24Arg LB/B rs2303757 - DKKL1 Q9UK85 VAR_053062 p.Leu104Ile LB/B rs35693137 - DKKL1 Q9UK85 VAR_053063 p.Gly187Ser LB/B rs1054770 - DLAT P10515 VAR_047410 p.Ala43Val LB/B rs2303436 - DLAT P10515 VAR_047411 p.Ser98Phe LB/B rs537057 - DLAT P10515 VAR_047412 p.Leu99Phe LB/B rs537060 - DLAT P10515 VAR_047413 p.Gln209Arg LB/B rs11553595 - DLAT P10515 VAR_047414 p.Asp313Val LB/B rs11553592 - DLAT P10515 VAR_047415 p.Val318Ala LB/B rs627441 - DLAT P10515 VAR_047416 p.Asp451Asn LB/B rs10891314 - DLC1 Q96QB1 VAR_014229 p.Asn712Ser LB/B rs1044092 - DLC1 Q96QB1 VAR_014230 p.Val791Met LB/B rs532841 - DLC1 Q96QB1 VAR_014231 p.Thr959Ala LB/B rs121908500 - DLC1 Q96QB1 VAR_014232 p.His998Gln LB/B rs149295187 - DLC1 Q96QB1 VAR_014233 p.Val1025Ala LB/B - - DLC1 Q96QB1 VAR_014234 p.Glu1199Val LB/B rs1044093 - DLC1 Q96QB1 VAR_014235 p.Ser1209Cys LB/B rs1044094 - DLC1 Q96QB1 VAR_059293 p.Arg27Cys LB/B rs34575560 - DLC1 Q96QB1 VAR_059294 p.Leu81Val LB/B rs3816748 - DLC1 Q96QB1 VAR_059295 p.Gln254His LB/B rs11203495 - DLC1 Q96QB1 VAR_059296 p.Asn255Asp LB/B rs11203494 - DLC1 Q96QB1 VAR_059297 p.Thr260Ile LB/B rs3816747 - DLC1 Q96QB1 VAR_059298 p.Gln320His LB/B rs34591797 - DLD P09622 VAR_006907 p.Lys72Glu LP/P rs121964987 Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] DLD P09622 VAR_006908 p.Pro488Leu LP/P rs121964988 Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] DLD P09622 VAR_014555 p.Leu331Val LB/B rs17624 - DLD P09622 VAR_015820 p.Gly229Cys LP/P rs121964990 Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] DLD P09622 VAR_015821 p.Arg495Gly LP/P rs121964989 Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] DLD P09622 VAR_031922 p.Lys104Thr LB/B rs1130477 - DLD P09622 VAR_076985 p.Ile47Thr LP/P rs397514651 Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] DLD P09622 VAR_076987 p.Met361Val LP/P rs121964993 Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] DLD P09622 VAR_076988 p.Glu375Lys LP/P rs121964992 Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] DLD P09622 VAR_076989 p.Ile393Thr LP/P rs121964991 Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] DLD P09622 VAR_076990 p.Asp479Val LP/P rs397514649 Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] DLD P09622 VAR_076991 p.Arg482Gly LP/P rs397514650 Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] DLEC1 Q9Y238 VAR_035908 p.Pro351Arg US - A breast cancer sample DLEC1 Q9Y238 VAR_056860 p.Leu79Arg LB/B rs7625806 - DLEC1 Q9Y238 VAR_056861 p.Ser192Phe LB/B rs34012183 - DLEC1 Q9Y238 VAR_056862 p.Lys1022Asn LB/B rs36012922 - DLEC1 Q9Y238 VAR_056863 p.Asn1150Asp LB/B rs9840172 - DLEC1 Q9Y238 VAR_056864 p.Leu1227Pro LB/B rs9810085 - DLEU7 Q6UYE1 VAR_031280 p.Ala83Val LB/B rs898861 - DLG1 Q12959 VAR_054334 p.Lys140Arg LB/B rs1802668 - DLG1 Q12959 VAR_054335 p.Arg278Gln LB/B rs1134986 - DLG1 Q12959 VAR_054336 p.Pro899Leu LB/B rs34492126 - DLG3 Q92796 VAR_036591 p.Gly40Arg US rs1449722258 A colorectal cancer sample DLG5 Q8TDM6 VAR_027897 p.Gln140Arg LB/B rs1248696 - DLG5 Q8TDM6 VAR_027898 p.Pro1481Gln LB/B rs2289310 - DLG5 Q8TDM6 VAR_027899 p.Ala1600Val LB/B rs4979794 - DLGAP1 O14490 VAR_053648 p.Arg816Gln LB/B rs35822832 - DLGAP2 Q9P1A6 VAR_023073 p.Pro419Gln LB/B rs2301963 - DLGAP2 Q9P1A6 VAR_036750 p.Thr620Met LB/B rs7463888 - DLGAP3 O95886 VAR_079371 p.Thr763Pro LB/B rs758215471 - DLGAP4 Q9Y2H0 VAR_057716 p.Ala486Thr LB/B rs6019652 - DLGAP4 Q9Y2H0 VAR_057717 p.Arg861Gln LB/B rs2275807 - DLGAP5 Q15398 VAR_023774 p.Gly69Glu LB/B rs2274271 - DLGAP5 Q15398 VAR_057718 p.Gln324His LB/B rs8010791 - DLGAP5 Q15398 VAR_057719 p.Thr469Ile LB/B rs17128275 - DLGAP5 Q15398 VAR_062147 p.Glu753Gln LB/B rs35954941 - DLK1 P80370 VAR_055715 p.Gln73Leu LB/B rs34686110 - DLK1 P80370 VAR_055716 p.Val104Met LB/B rs2273607 - DLK1 P80370 VAR_055717 p.Ser260Asn LB/B rs1058009 - DLK1 P80370 VAR_060335 p.Arg101Gly LB/B rs6575799 - DLK1 P80370 VAR_060336 p.Asp108Gly LB/B rs1058006 - DLK2 Q6UY11 VAR_048977 p.Gly301Arg LB/B rs35192247 - DLL1 O00548 VAR_048976 p.Val444Met LB/B rs16901311 - DLL1 O00548 VAR_083468 p.Cys179Phe LP/P - Neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures (NEDBAS) [MIM:618709] DLL3 Q9NYJ7 VAR_009952 p.Gly385Asp LP/P rs104894674 Spondylocostal dysostosis 1, autosomal recessive (SCDO1) [MIM:277300] DLL3 Q9NYJ7 VAR_016776 p.Leu218Pro LB/B rs1110627 - DLL3 Q9NYJ7 VAR_046782 p.Ala115Thr LB/B rs71647811 - DLL3 Q9NYJ7 VAR_046783 p.Leu142Gln LB/B rs55741253 - DLL3 Q9NYJ7 VAR_046784 p.Phe172Cys LB/B rs8107127 - DLL4 Q9NR61 VAR_075858 p.Ala121Pro LP/P rs796065350 Adams-Oliver syndrome 6 (AOS6) [MIM:616589] DLL4 Q9NR61 VAR_075859 p.Arg186Cys LP/P rs796065348 Adams-Oliver syndrome 6 (AOS6) [MIM:616589] DLL4 Q9NR61 VAR_075860 p.Phe195Leu LP/P rs796065351 Adams-Oliver syndrome 6 (AOS6) [MIM:616589] DLL4 Q9NR61 VAR_075861 p.Pro267Thr LP/P rs796065349 Adams-Oliver syndrome 6 (AOS6) [MIM:616589] DLL4 Q9NR61 VAR_075862 p.Cys390Arg LP/P rs796065347 Adams-Oliver syndrome 6 (AOS6) [MIM:616589] DLL4 Q9NR61 VAR_075863 p.Cys390Tyr LP/P rs796065346 Adams-Oliver syndrome 6 (AOS6) [MIM:616589] DLL4 Q9NR61 VAR_075864 p.Cys455Trp LP/P rs796065345 Adams-Oliver syndrome 6 (AOS6) [MIM:616589] DLST P36957 VAR_004976 p.Pro213Ala LB/B - - DLST P36957 VAR_004977 p.Pro384Thr LB/B - - DLST P36957 VAR_083034 p.Arg231Gln US rs771616810 Pheochromocytoma/paraganglioma syndrome 7 (PPGL7) [MIM:618475] DLST P36957 VAR_083035 p.Asp304Asn LB/B rs373295097 - DLST P36957 VAR_083036 p.Gly374Glu LP/P rs1270341616 Pheochromocytoma/paraganglioma syndrome 7 (PPGL7) [MIM:618475] DLST P36957 VAR_083037 p.Tyr422Cys US rs778239022 Pheochromocytoma/paraganglioma syndrome 7 (PPGL7) [MIM:618475] DLX1 P56177 VAR_028443 p.Ser136Cys LB/B rs17853565 - DLX5 P56178 VAR_033874 p.Ser234Arg LB/B rs35273378 - DLX5 P56178 VAR_067413 p.Gln178Pro LP/P rs387906737 Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D) [MIM:220600] DMAC1 Q96GE9 VAR_056819 p.Pro28Thr LB/B rs1127430 - DMAC2 Q9NW81 VAR_057798 p.Arg9Cys LB/B rs2231938 - DMAC2 Q9NW81 VAR_057799 p.His23Arg LB/B rs2231939 - DMAC2 Q9NW81 VAR_057800 p.Asn34Ser LB/B rs2231940 - DMAC2 Q9NW81 VAR_057801 p.Glu230Lys LB/B rs2231943 - DMAC2 Q9NW81 VAR_060165 p.Cys159Ser LB/B rs1043413 - DMAC2L Q99766 VAR_060296 p.Pro3Leu LB/B rs2275592 - DMBT1 Q9UGM3 VAR_024788 p.Pro42Thr LB/B rs11523871 - DMBT1 Q9UGM3 VAR_024789 p.Ser52Trp LB/B rs75209396 - DMBT1 Q9UGM3 VAR_024790 p.Ser54Leu LB/B rs3013236 - DMBT1 Q9UGM3 VAR_024791 p.Val60Ala LB/B - - DMBT1 Q9UGM3 VAR_024792 p.Pro65Leu LB/B rs185045706 - DMBT1 Q9UGM3 VAR_024793 p.Gln337Leu LB/B - - DMBT1 Q9UGM3 VAR_024794 p.Pro357Ser LB/B rs141757453 - DMBT1 Q9UGM3 VAR_024795 p.Arg364Gly LB/B - - DMBT1 Q9UGM3 VAR_024796 p.Gln420His US rs104894156 A glioma sample DMBT1 Q9UGM3 VAR_024797 p.Gly607Val US - A glioma sample DMBT1 Q9UGM3 VAR_024798 p.Thr649Met LB/B rs189478437 - DMBT1 Q9UGM3 VAR_024799 p.Arg656Trp LB/B rs989419742 - DMBT1 Q9UGM3 VAR_024800 p.Thr780Met LB/B rs199704744 - DMBT1 Q9UGM3 VAR_024801 p.Pro856Ser LB/B rs144450471 - DMBT1 Q9UGM3 VAR_024802 p.His1084Tyr LB/B rs2277244 - DMBT1 Q9UGM3 VAR_024803 p.Met1169Thr LB/B rs149099696 - DMBT1 Q9UGM3 VAR_024804 p.Arg1176Trp LB/B rs761527369 - DMBT1 Q9UGM3 VAR_024805 p.Val1545Met LB/B rs189221852 - DMBT1 Q9UGM3 VAR_024806 p.His1732Ser US - - DMBT1 Q9UGM3 VAR_024807 p.Thr1961Pro LB/B - - DMBT1 Q9UGM3 VAR_044417 p.Asn322Asp LB/B rs1969620 - DMBT1 Q9UGM3 VAR_044418 p.Arg1860Leu LB/B rs7099177 - DMBT1 Q9UGM3 VAR_052994 p.Arg670Cys LB/B rs2277237 - DMBT1 Q9UGM3 VAR_052995 p.Thr719Met LB/B rs2277238 - DMBT1 Q9UGM3 VAR_057981 p.Gly162Glu US rs200664624 A glioma cell line DMBT1 Q9UGM3 VAR_057982 p.Asn546Ser US rs200713568 A glioma cell line DMBT1 Q9UGM3 VAR_057983 p.Ser1095Pro LB/B rs200551848 - DMBT1 Q9UGM3 VAR_057984 p.Ser1102Thr LB/B rs566926424 - DMBT1 Q9UGM3 VAR_057985 p.Arg1434Trp LB/B - - DMBT1 Q9UGM3 VAR_057986 p.Val2255Met LB/B rs183135544 - DMBT1 Q9UGM3 VAR_080764 p.Thr969Arg US rs1195952221 - DMBX1 Q8NFW5 VAR_049578 p.Ala205Pro LB/B rs34614765 - DMBX1 Q8NFW5 VAR_082142 p.Arg123Trp US rs730882203 - DMC1 Q14565 VAR_018960 p.Met200Val LB/B rs2227914 - DMC1 Q14565 VAR_061757 p.Gly150Asp LB/B rs58396845 - DMD P11532 VAR_005147 p.Leu54Arg LP/P - Duchenne muscular dystrophy (DMD) [MIM:310200] DMD P11532 VAR_005148 p.Gln133Pro LB/B rs1800256 - DMD P11532 VAR_005149 p.Ala168Asp LP/P - Becker muscular dystrophy (BMD) [MIM:300376] DMD P11532 VAR_005150 p.Tyr231Asn LP/P - Becker muscular dystrophy (BMD) [MIM:300376] DMD P11532 VAR_005151 p.Gln365His LB/B rs1800266 - DMD P11532 VAR_005153 p.Leu623Ile LB/B rs1800259 - DMD P11532 VAR_005154 p.Lys773Glu LP/P - Duchenne muscular dystrophy (DMD) [MIM:310200] DMD P11532 VAR_005155 p.Ala784Gly LB/B rs1800260 - DMD P11532 VAR_005156 p.Asp882Gly LB/B rs228406 - DMD P11532 VAR_005157 p.Val1197Phe LB/B rs1800262 - DMD P11532 VAR_005158 p.Thr1245Ile LB/B rs1800269 - DMD P11532 VAR_005159 p.Ala1278Pro LB/B rs1800270 - DMD P11532 VAR_005160 p.Lys1377Asn LB/B rs1800263 - DMD P11532 VAR_005161 p.Gln1469Leu LB/B rs1057872 - DMD P11532 VAR_005162 p.Arg1745His LB/B rs1801187 - DMD P11532 VAR_005163 p.Arg1844Ser LB/B rs1801186 - DMD P11532 VAR_005164 p.Arg2155Trp LB/B rs1800273 - DMD P11532 VAR_005165 p.Arg2191Trp LB/B - - DMD P11532 VAR_005167 p.Lys2366Gln LB/B rs1800275 - DMD P11532 VAR_005168 p.Glu2910Val LB/B rs41305353 - DMD P11532 VAR_005169 p.Asn2912Asp LB/B rs1800278 - DMD P11532 VAR_005170 p.His2921Arg LP/P rs1800279 Becker muscular dystrophy (BMD) [MIM:300376] DMD P11532 VAR_005171 p.Gln2937Arg LB/B rs1800280 - DMD P11532 VAR_005172 p.Ala3421Val LP/P - Becker muscular dystrophy (BMD) [MIM:300376] DMD P11532 VAR_023537 p.Lys18Asn LP/P - Cardiomyopathy, dilated, 3B (CMD3B) [MIM:302045] DMD P11532 VAR_023538 p.Asp165Val US - - DMD P11532 VAR_023539 p.Ala171Pro LP/P - Becker muscular dystrophy (BMD) [MIM:300376] DMD P11532 VAR_023540 p.Thr279Ala LP/P - Cardiomyopathy, dilated, 3B (CMD3B) [MIM:302045] DMD P11532 VAR_023541 p.Asp645Gly LP/P - Duchenne muscular dystrophy (DMD) [MIM:310200] DMD P11532 VAR_023542 p.Asn1672Lys LB/B rs16990264 - DMD P11532 VAR_023543 p.Asn2299Thr LB/B - - DMD P11532 VAR_023544 p.Phe3228Leu LP/P - Cardiomyopathy, dilated, 3B (CMD3B) [MIM:302045] DMD P11532 VAR_023545 p.Cys3313Phe LP/P - Duchenne muscular dystrophy (DMD) [MIM:310200] DMD P11532 VAR_023546 p.Asp3335His LP/P - Duchenne muscular dystrophy (DMD) [MIM:310200] DMD P11532 VAR_023547 p.Cys3340Tyr LP/P - Duchenne muscular dystrophy (DMD) [MIM:310200] DMD P11532 VAR_036353 p.Leu334Phe US - A colorectal cancer sample DMD P11532 VAR_036354 p.Glu1219Gln US - A breast cancer sample DMD P11532 VAR_036355 p.Arg1470His US - A breast cancer sample DMD P11532 VAR_036356 p.Ala2164Val US - A colorectal cancer sample DMD P11532 VAR_057642 p.Thr409Ser LB/B rs34155804 - DMD P11532 VAR_057643 p.Ala573Val LB/B rs5972599 - DMD P11532 VAR_057644 p.Thr715Ser LB/B rs16998350 - DMD P11532 VAR_057645 p.Thr1136Ser LB/B rs3827462 - DMD P11532 VAR_057646 p.Phe1388Val LB/B rs28715870 - DMD P11532 VAR_057647 p.Arg2108Cys LB/B rs16990169 - DMD P11532 VAR_062110 p.Ser666Leu LB/B rs34563188 - DMD P11532 VAR_065764 p.Trp118Arg US - - DMGDH Q9UI17 VAR_011505 p.His109Arg LP/P rs121908331 DMGDH deficiency (DMGDHD) [MIM:605850] DMGDH Q9UI17 VAR_014950 p.Ser279Pro LB/B rs532964 - DMGDH Q9UI17 VAR_014951 p.Ala530Gly LB/B rs1805073 - DMGDH Q9UI17 VAR_014952 p.Ser646Pro LB/B rs1805074 - DMKN Q6E0U4 VAR_042720 p.Ala13Asp US - A colorectal cancer sample DMKN Q6E0U4 VAR_042721 p.Ala415Ser LB/B rs2293696 - DMKN Q6E0U4 VAR_047337 p.Asp427Ala LB/B rs909072 - DMKN Q6E0U4 VAR_056865 p.Glu69Asp LB/B rs12460932 - DMKN Q6E0U4 VAR_056866 p.Asn139Ser LB/B rs7247001 - DMKN Q6E0U4 VAR_059652 p.Val91Ala LB/B rs4806163 - DMKN Q6E0U4 VAR_059653 p.Gly280Ser LB/B rs11667007 - DMP1 Q13316 VAR_030750 p.Ser69Cys LB/B rs10019009 - DMP1 Q13316 VAR_030751 p.Asp117Asn US rs140719182 One individual with tumoral calcinosis DMP1 Q13316 VAR_030752 p.Arg272His LB/B rs145237146 - DMP1 Q13316 VAR_033848 p.Lys463Arg LB/B rs34661425 - DMPK Q09013 VAR_040452 p.Leu428Val US - A lung small cell carcinoma sample DMPK Q09013 VAR_058334 p.Leu423Val LB/B rs527221 - DMRT1 Q9Y5R6 VAR_009954 p.Ser45Thr LB/B rs3739583 - DMRT1 Q9Y5R6 VAR_009955 p.Tyr221Ser LB/B - - DMRT1 Q9Y5R6 VAR_009956 p.Arg281Ser LB/B - - DMRT1 Q9Y5R6 VAR_009957 p.Pro295Leu LB/B rs902482318 - DMRT2 Q9Y5R5 VAR_067719 p.Ala381Pro LB/B rs3824419 - DMRT2 Q9Y5R5 VAR_067720 p.Glu458Gln LB/B rs17641078 - DMRT3 Q9NQL9 VAR_030591 p.Ala164Thr LB/B rs10978001 - DMRT3 Q9NQL9 VAR_030592 p.Asn261Thr LB/B rs7854621 - DMRT3 Q9NQL9 VAR_030593 p.Gly356Val LB/B rs16927037 - DMRTA1 Q5VZB9 VAR_036331 p.Arg342Cys US rs372873186 A colorectal cancer sample DMTF1 Q9Y222 VAR_039577 p.Val479Ile LB/B rs1558049 - DMXL1 Q9Y485 VAR_057589 p.Ile221Met LB/B rs7700801 - DMXL1 Q9Y485 VAR_057590 p.Ser851Asn LB/B rs4895362 - DMXL1 Q9Y485 VAR_057591 p.Val2067Met LB/B rs9790916 - DMXL1 Q9Y485 VAR_057592 p.Thr2107Ser LB/B rs9791092 - DMXL2 Q8TDJ6 VAR_057593 p.Thr497Met LB/B rs17524906 - DMXL2 Q8TDJ6 VAR_057594 p.Asn903Asp LB/B rs16953073 - DMXL2 Q8TDJ6 VAR_057595 p.Ser1288Pro LB/B rs12102203 - DMXL2 Q8TDJ6 VAR_057596 p.Asp1481Gly LB/B rs35349640 - DMXL2 Q8TDJ6 VAR_062094 p.Glu144Gln LB/B rs35097381 - DMXL2 Q8TDJ6 VAR_069028 p.Asn1698Ser LB/B rs149028181 - DMXL2 Q8TDJ6 VAR_079484 p.Arg2417His LP/P - Deafness, autosomal dominant, 71 (DFNA71) [MIM:617605] DMXL2 Q8TDJ6 VAR_083447 p.Ala1712Val LP/P rs372749193 Developmental and epileptic encephalopathy 81 (DEE81) [MIM:618663] DNA2 P51530 VAR_069905 p.Arg198His LP/P rs1272393477 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156] DNA2 P51530 VAR_069906 p.Lys227Glu LP/P rs760412883 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156] DNA2 P51530 VAR_069907 p.Val637Ile LP/P rs746522359 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156] DNAAF1 Q8NEP3 VAR_047662 p.Asp387Glu LB/B rs36062234 - DNAAF1 Q8NEP3 VAR_047663 p.Lys393Arg LB/B rs17856705 - DNAAF1 Q8NEP3 VAR_047664 p.Glu432Asp LB/B rs9972733 - DNAAF1 Q8NEP3 VAR_047665 p.Pro502Leu LB/B rs11644164 - DNAAF1 Q8NEP3 VAR_047666 p.Phe545Cys LB/B rs17856706 - DNAAF1 Q8NEP3 VAR_047667 p.Leu633Ser LB/B rs2288020 - DNAAF1 Q8NEP3 VAR_047668 p.Leu659Pro LB/B rs2288022 - DNAAF1 Q8NEP3 VAR_047669 p.Leu659Val LB/B rs2288021 - DNAAF1 Q8NEP3 VAR_047670 p.Ser675Thr LB/B rs2288023 - DNAAF1 Q8NEP3 VAR_047671 p.Gly703Arg LB/B rs4150188 - DNAAF1 Q8NEP3 VAR_047672 p.Pro712Ala LB/B rs4150187 - DNAAF1 Q8NEP3 VAR_063098 p.Leu175Arg LP/P rs267607227 Ciliary dyskinesia, primary, 13 (CILD13) [MIM:613193] DNAAF10 Q96MX6 VAR_053438 p.Met241Val LB/B rs13009282 - DNAAF11 Q86X45 VAR_023603 p.Thr232Ile LB/B rs2293979 - DNAAF11 Q86X45 VAR_031223 p.Ile466Thr LB/B rs9297853 - DNAAF11 Q86X45 VAR_069038 p.Ala74Pro US rs397514596 Ciliary dyskinesia, primary, 19 (CILD19) [MIM:614935] DNAAF11 Q86X45 VAR_069039 p.Asp146His LP/P rs200321595 Ciliary dyskinesia, primary, 19 (CILD19) [MIM:614935] DNAAF11 Q86X45 VAR_084433 p.Asn61Lys US - Ciliary dyskinesia, primary, 19 (CILD19) [MIM:614935] DNAAF11 Q86X45 VAR_084434 p.Cys87Arg LP/P - Ciliary dyskinesia, primary, 19 (CILD19) [MIM:614935] DNAAF2 Q9NVR5 VAR_024309 p.Asp768Gly LB/B rs9989177 - DNAAF2 Q9NVR5 VAR_057788 p.Glu62Asp LB/B rs2985684 - DNAAF3 Q8N9W5 VAR_055306 p.Glu292Gly LB/B rs2365725 - DNAAF3 Q8N9W5 VAR_055307 p.Gly331Trp LB/B rs7508641 - DNAAF3 Q8N9W5 VAR_055308 p.Asn365Asp LB/B rs890872 - DNAAF3 Q8N9W5 VAR_067300 p.Leu61Pro LP/P rs387907151 Ciliary dyskinesia, primary, 2 (CILD2) [MIM:606763] DNAAF3 Q8N9W5 VAR_067301 p.Ala278Thr LB/B rs200775946 - DNAAF4 Q8WXU2 VAR_017383 p.Pro2Ser LB/B rs143493699 - DNAAF4 Q8WXU2 VAR_017384 p.Val91Ile LB/B rs17819126 - DNAAF4 Q8WXU2 VAR_017385 p.Glu191Gly LB/B rs600753 - DNAAF4 Q8WXU2 VAR_017386 p.Ser420Cys LB/B rs77641439 - DNAAF4 Q8WXU2 VAR_026214 p.Asn38Lys LB/B rs16976354 - DNAAF4 Q8WXU2 VAR_026215 p.Ala332Val LB/B rs17855756 - DNAAF5 Q86Y56 VAR_056911 p.Val632Ala LB/B rs4720951 - DNAAF5 Q86Y56 VAR_060463 p.Arg560Cys LB/B rs73258248 - DNAAF5 Q86Y56 VAR_060464 p.Arg743Lys LB/B rs3922641 - DNAAF5 Q86Y56 VAR_068969 p.Leu795Pro LP/P rs397514561 Ciliary dyskinesia, primary, 18 (CILD18) [MIM:614874] DNAAF6 Q9NQM4 VAR_083178 p.Asp133Tyr LP/P - Ciliary dyskinesia, primary, 36, X-linked (CILD36) [MIM:300991] DNAAF8 Q8IYS4 VAR_033157 p.Glu88Asp LB/B rs17137215 - DNAAF8 Q8IYS4 VAR_033158 p.Pro143Ser LB/B rs17137230 - DNAAF8 Q8IYS4 VAR_033159 p.Ser190Leu LB/B rs35599524 - DNAAF8 Q8IYS4 VAR_033160 p.Glu232Lys LB/B rs35002791 - DNAAF8 Q8IYS4 VAR_033161 p.Ala241Val LB/B rs7202010 - DNAAF8 Q8IYS4 VAR_033162 p.Arg302Cys LB/B rs2075469 - DNAAF8 Q8IYS4 VAR_033163 p.Gln354Arg LB/B rs737700 - DNAAF8 Q8IYS4 VAR_061618 p.Pro465Leu LB/B rs17853375 - DNAAF9 Q5TEA3 VAR_050923 p.Thr481Pro LB/B rs16988463 - DNAAF9 Q5TEA3 VAR_050924 p.Arg577Gly LB/B rs2422864 - DNAAF9 Q5TEA3 VAR_059637 p.Thr86Met LB/B rs8124486 - DNAAF9 Q5TEA3 VAR_065913 p.Phe265Leu LB/B rs149767043 - DNAH1 Q9P2D7 VAR_038912 p.Glu205Asp LB/B rs10460963 - DNAH1 Q9P2D7 VAR_038913 p.Val441Leu LB/B rs13060192 - DNAH1 Q9P2D7 VAR_038914 p.Val1502Met LB/B rs17052095 - DNAH1 Q9P2D7 VAR_038915 p.Arg1663Cys LB/B rs17052097 - DNAH1 Q9P2D7 VAR_062176 p.Asn2384Ser LB/B rs56002041 - DNAH1 Q9P2D7 VAR_064924 p.Arg3832His LB/B rs365048 - DNAH1 Q9P2D7 VAR_079510 p.Lys1154Gln LP/P rs544674332 Ciliary dyskinesia, primary, 37 (CILD37) [MIM:617577] DNAH1 Q9P2D7 VAR_079511 p.Val1287Gly LP/P rs1131692251 Spermatogenic failure 18 (SPGF18) [MIM:617576] DNAH1 Q9P2D7 VAR_079512 p.Asp1293Asn LP/P rs140883175 Spermatogenic failure 18 (SPGF18) [MIM:617576] DNAH1 Q9P2D7 VAR_080890 p.Thr1372Met US rs374644342 Spermatogenic failure 18 (SPGF18) [MIM:617576] DNAH1 Q9P2D7 VAR_080894 p.Leu2071Arg US rs757396103 Spermatogenic failure 18 (SPGF18) [MIM:617576] DNAH1 Q9P2D7 VAR_080895 p.Val2150Met US rs778635747 Spermatogenic failure 18 (SPGF18) [MIM:617576] DNAH1 Q9P2D7 VAR_080898 p.Arg3229Cys US - Spermatogenic failure 18 (SPGF18) [MIM:617576] DNAH1 Q9P2D7 VAR_080900 p.Arg4096Leu US rs748247721 Spermatogenic failure 18 (SPGF18) [MIM:617576] DNAH1 Q9P2D7 VAR_080901 p.Arg4133Cys US rs776800142 Spermatogenic failure 18 (SPGF18) [MIM:617576] DNAH1 Q9P2D7 VAR_080902 p.Ala4174Thr US rs765046623 Spermatogenic failure 18 (SPGF18) [MIM:617576] DNAH10 Q8IVF4 VAR_038916 p.Ile480Val LB/B rs10846559 - DNAH10 Q8IVF4 VAR_060135 p.Ser167Pro LB/B rs11057353 - DNAH10 Q8IVF4 VAR_060136 p.Thr1724Met LB/B rs34934281 - DNAH10 Q8IVF4 VAR_060137 p.Asp1767Glu LB/B rs7969937 - DNAH10 Q8IVF4 VAR_060138 p.Arg1865Lys LB/B rs35685787 - DNAH10 Q8IVF4 VAR_060139 p.Arg2403Trp LB/B rs7977449 - DNAH10 Q8IVF4 VAR_060140 p.Asn2483Ser LB/B rs11835416 - DNAH10 Q8IVF4 VAR_062177 p.Thr1986Met LB/B rs33935373 - DNAH10 Q8IVF4 VAR_086228 p.Arg1888Gln US rs369904884 Spermatogenic failure 56 (SPGF56) [MIM:619515] DNAH10 Q8IVF4 VAR_086229 p.Thr2534Met US rs764317091 Spermatogenic failure 56 (SPGF56) [MIM:619515] DNAH10 Q8IVF4 VAR_086230 p.Arg3963Cys US rs755346965 Spermatogenic failure 56 (SPGF56) [MIM:619515] DNAH10 Q8IVF4 VAR_086231 p.Gly4280Arg LP/P rs759073156 Spermatogenic failure 56 (SPGF56) [MIM:619515] DNAH11 Q96DT5 VAR_013851 p.Glu34Leu LB/B rs398123604 - DNAH11 Q96DT5 VAR_013852 p.Gln639Arg LB/B rs12670130 - DNAH11 Q96DT5 VAR_013853 p.Ser654Cys LB/B rs62441683 - DNAH11 Q96DT5 VAR_013854 p.Val1023Ala LB/B rs10269582 - DNAH11 Q96DT5 VAR_013855 p.Thr1038Ala LB/B rs10224537 - DNAH11 Q96DT5 VAR_013856 p.Asp1635Gly LB/B rs17144835 - DNAH11 Q96DT5 VAR_013857 p.Asn2634Ser LB/B rs9639393 - DNAH11 Q96DT5 VAR_013858 p.Ile2675Val LB/B rs72657364 - DNAH11 Q96DT5 VAR_013859 p.Arg2997Gln US rs35865357 Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884] DNAH11 Q96DT5 VAR_013860 p.Ala3467Thr LB/B rs2214326 - DNAH11 Q96DT5 VAR_013861 p.Val3708Leu LB/B rs4722064 - DNAH11 Q96DT5 VAR_013862 p.Ser3758Pro LB/B rs17145720 - DNAH11 Q96DT5 VAR_013863 p.Thr4170Ile LB/B rs12537531 - DNAH11 Q96DT5 VAR_042944 p.Glu34Val LB/B rs2285944 - DNAH11 Q96DT5 VAR_042945 p.Met1316Val LB/B rs17144788 - DNAH11 Q96DT5 VAR_042946 p.Met4165Val LB/B rs6461613 - DNAH11 Q96DT5 VAR_060141 p.Tyr2586His LB/B rs2003417 - DNAH11 Q96DT5 VAR_072472 p.Glu117Val LP/P rs72655968 Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884] DNAH11 Q96DT5 VAR_072473 p.Leu2383Pro LP/P rs72657353 Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884] DNAH11 Q96DT5 VAR_072474 p.Leu4327Ser LP/P rs72658826 Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884] DNAH12 Q6ZR08 VAR_034829 p.Val32Ala LB/B rs9311651 - DNAH12 Q6ZR08 VAR_034830 p.Ser139Asn LB/B rs6778837 - DNAH12 Q6ZR08 VAR_034831 p.Asp224Glu LB/B rs6445902 - DNAH12 Q6ZR08 VAR_034832 p.Thr231Ala LB/B rs7629743 - DNAH12 Q6ZR08 VAR_037390 p.Tyr2740Phe LB/B rs17057989 - DNAH12 Q6ZR08 VAR_037391 p.Gly2893Ser LB/B rs4060726 - DNAH12 Q6ZR08 VAR_060142 p.Thr467Pro LB/B rs6806444 - DNAH12 Q6ZR08 VAR_060143 p.Asp1549Asn LB/B rs6773904 - DNAH12 Q6ZR08 VAR_060144 p.Tyr1704His LB/B rs4462937 - DNAH12 Q6ZR08 VAR_060145 p.Arg1748Cys LB/B rs17050836 - DNAH12 Q6ZR08 VAR_060146 p.Lys1754Asn LB/B rs17793014 - DNAH12 Q6ZR08 VAR_060147 p.Thr1763Ile LB/B rs4681982 - DNAH14 Q0VDD8 VAR_032116 p.Thr220Ser LB/B rs41267347 - DNAH14 Q0VDD8 VAR_032117 p.Pro274Leu LB/B rs41267349 - DNAH14 Q0VDD8 VAR_057764 p.Lys2671Glu LB/B rs6667999 - DNAH17 Q9UFH2 VAR_039581 p.Asp492Asn LB/B rs34868091 - DNAH17 Q9UFH2 VAR_062178 p.Ile792Val LB/B rs16971526 - DNAH17 Q9UFH2 VAR_062179 p.Ile963Thr LB/B rs11651537 - DNAH17 Q9UFH2 VAR_062180 p.Met1972Val LB/B rs1462210081 - DNAH17 Q9UFH2 VAR_083233 p.Cys1829Tyr LP/P rs1598595659 Spermatogenic failure 39 (SPGF39) [MIM:618643] DNAH17 Q9UFH2 VAR_083235 p.Pro3499Leu LP/P rs1598474055 Spermatogenic failure 39 (SPGF39) [MIM:618643] DNAH17 Q9UFH2 VAR_083236 p.Leu3595Pro LP/P rs1418782829 Spermatogenic failure 39 (SPGF39) [MIM:618643] DNAH2 Q9P225 VAR_039407 p.Ala100Val LB/B rs35664870 - DNAH2 Q9P225 VAR_039408 p.Ser312Thr LB/B rs3744254 - DNAH2 Q9P225 VAR_039409 p.Glu1326Gly LB/B rs11868946 - DNAH2 Q9P225 VAR_039410 p.Arg2548His LB/B rs11656500 - DNAH2 Q9P225 VAR_039411 p.Thr3600Ile LB/B rs7213894 - DNAH2 Q9P225 VAR_060134 p.Arg2904His LB/B rs2309808 - DNAH2 Q9P225 VAR_085171 p.Arg1924Cys LP/P - Spermatogenic failure 45 (SPGF45) [MIM:619094] DNAH2 Q9P225 VAR_085172 p.Ser2320Arg US - Spermatogenic failure 45 (SPGF45) [MIM:619094] DNAH2 Q9P225 VAR_085173 p.Arg3100Trp US - Spermatogenic failure 45 (SPGF45) [MIM:619094] DNAH2 Q9P225 VAR_085175 p.Ser3835Pro US - Spermatogenic failure 45 (SPGF45) [MIM:619094] DNAH3 Q8TD57 VAR_039412 p.Ile484Leu US - A colorectal cancer sample DNAH3 Q8TD57 VAR_039413 p.Arg545Trp LB/B rs16970910 - DNAH3 Q8TD57 VAR_039414 p.Ile1565Met LB/B rs330150 - DNAH3 Q8TD57 VAR_039415 p.Val1583Ile LB/B rs16970832 - DNAH3 Q8TD57 VAR_039416 p.Ser1608Phe US - A colorectal cancer sample DNAH3 Q8TD57 VAR_039417 p.Thr1752Met LB/B rs13332291 - DNAH3 Q8TD57 VAR_039418 p.Ile2399Asn LB/B rs34179606 - DNAH3 Q8TD57 VAR_039419 p.Ile2804Val LB/B rs12929546 - DNAH3 Q8TD57 VAR_039420 p.Lys2949Thr LB/B rs33928718 - DNAH3 Q8TD57 VAR_039421 p.Glu3457Lys LB/B rs3743695 - DNAH3 Q8TD57 VAR_039422 p.Leu3639Ile LB/B rs34771199 - DNAH3 Q8TD57 VAR_039423 p.Arg3645Cys LB/B rs12924551 - DNAH3 Q8TD57 VAR_039424 p.Arg3744Trp LB/B rs2301620 - DNAH5 Q8TE73 VAR_019603 p.His12Gln LB/B rs339445 - DNAH5 Q8TE73 VAR_019604 p.Gly24Glu LB/B rs1530496 - DNAH5 Q8TE73 VAR_019605 p.Thr558Ala LB/B rs1530498 - DNAH5 Q8TE73 VAR_019606 p.Gln2463Arg LB/B rs10078391 - DNAH5 Q8TE73 VAR_019607 p.Leu2862Phe LB/B rs10513155 - DNAH5 Q8TE73 VAR_019608 p.Gly3519Arg LP/P rs79967166 Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_019609 p.Ala4134Val LB/B rs30168 - DNAH5 Q8TE73 VAR_019610 p.Thr4220Ala LB/B rs2277046 - DNAH5 Q8TE73 VAR_019611 p.Ile4450Val LB/B rs3734110 - DNAH5 Q8TE73 VAR_027903 p.Ile766Leu LB/B rs4701997 - DNAH5 Q8TE73 VAR_027904 p.Ser1006Gly LB/B rs16902886 - DNAH5 Q8TE73 VAR_027905 p.Met1081Val LB/B rs16902880 - DNAH5 Q8TE73 VAR_027906 p.Thr3791Ile LB/B rs17263496 - DNAH5 Q8TE73 VAR_030705 p.Arg1716Leu LP/P rs74799487 Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_030706 p.Ser2264Asn LP/P rs78484669 Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_030707 p.Glu2347Lys LP/P - Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_030708 p.Arg2501Pro LP/P rs78853309 Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_030709 p.Phe2843Ser LP/P rs77377082 Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_030710 p.Trp3409Ser LP/P rs755407407 Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_030711 p.Ser3843Leu LP/P rs78346432 Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_030712 p.Gly4205Val LP/P rs79185772 Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_053840 p.Leu591Arg LB/B rs35090077 - DNAH5 Q8TE73 VAR_053841 p.Leu591Val LB/B rs35090077 - DNAH5 Q8TE73 VAR_053842 p.Gln620Lys LB/B rs34076967 - DNAH5 Q8TE73 VAR_053843 p.Lys765Asn LB/B rs4701997 - DNAH5 Q8TE73 VAR_053844 p.Arg2425His LB/B rs35900306 - DNAH5 Q8TE73 VAR_072469 p.Arg1454Gln LP/P rs542708170 Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_072470 p.Ala2881Gly LP/P rs727502973 Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_072471 p.Asp3605Asn LP/P - Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644] DNAH6 Q9C0G6 VAR_080035 p.His3471Gln US rs61731722 - DNAH7 Q8WXX0 VAR_038580 p.His169Pro LB/B rs1072599 - DNAH7 Q8WXX0 VAR_038581 p.Ala280Thr LB/B rs2375643 - DNAH7 Q8WXX0 VAR_038582 p.Ile315Val LB/B rs17838596 - DNAH7 Q8WXX0 VAR_038583 p.Ser438Asn LB/B rs16843720 - DNAH7 Q8WXX0 VAR_038584 p.Arg545Cys LB/B rs10931715 - DNAH7 Q8WXX0 VAR_038585 p.Asp565His LB/B rs2635718 - DNAH7 Q8WXX0 VAR_038586 p.Lys675Glu LB/B rs10198893 - DNAH7 Q8WXX0 VAR_038587 p.Lys825Glu LB/B rs6719500 - DNAH7 Q8WXX0 VAR_038588 p.Pro1422Thr LB/B rs168192 - DNAH7 Q8WXX0 VAR_038589 p.Glu1525Lys LB/B rs13415574 - DNAH7 Q8WXX0 VAR_038590 p.Arg1886Gln LB/B rs13034775 - DNAH7 Q8WXX0 VAR_038591 p.Pro1940Leu LB/B rs2375544 - DNAH7 Q8WXX0 VAR_038592 p.Pro1971Leu LB/B rs2889109 - DNAH7 Q8WXX0 VAR_038593 p.Met2020Thr LB/B rs10184131 - DNAH7 Q8WXX0 VAR_038594 p.Asn2459Lys LB/B rs16841199 - DNAH7 Q8WXX0 VAR_038595 p.Thr2569Ile LB/B rs2293066 - DNAH7 Q8WXX0 VAR_038596 p.Ile2809Val LB/B rs16841018 - DNAH7 Q8WXX0 VAR_038597 p.Leu3319Pro LB/B rs13411834 - DNAH7 Q8WXX0 VAR_038598 p.Arg3386His LB/B rs6708527 - DNAH7 Q8WXX0 VAR_088453 p.Asp1863Asn US - Ciliary dyskinesia, primary, 50 (CILD50) [MIM:620356] DNAH7 Q8WXX0 VAR_088454 p.Met2164Ile US - Ciliary dyskinesia, primary, 50 (CILD50) [MIM:620356] DNAH7 Q8WXX0 VAR_088455 p.Arg3204His US - Ciliary dyskinesia, primary, 50 (CILD50) [MIM:620356] DNAH7 Q8WXX0 VAR_088456 p.Gly3464Ser US - Ciliary dyskinesia, primary, 50 (CILD50) [MIM:620356] DNAH7 Q8WXX0 VAR_088457 p.Gln3534Arg US - Ciliary dyskinesia, primary, 50 (CILD50) [MIM:620356] DNAH8 Q96JB1 VAR_030171 p.Asn71Ser LB/B rs6935293 - DNAH8 Q96JB1 VAR_030172 p.Gly473Arg LB/B rs1738254 - DNAH8 Q96JB1 VAR_030173 p.Ile573Val LB/B rs3823430 - DNAH8 Q96JB1 VAR_030174 p.Ala727Thr LB/B rs1678674 - DNAH8 Q96JB1 VAR_030175 p.Gly807Glu LB/B rs874808 - DNAH8 Q96JB1 VAR_030176 p.Glu1202Lys LB/B rs9357283 - DNAH8 Q96JB1 VAR_030177 p.Thr2444Asn LB/B rs862432 - DNAH8 Q96JB1 VAR_030178 p.Thr4106Met LB/B rs1537232 - DNAH8 Q96JB1 VAR_030179 p.Ile4271Val LB/B rs10484847 - DNAH8 Q96JB1 VAR_036213 p.Thr2226Met US - A colorectal cancer sample DNAH8 Q96JB1 VAR_085188 p.Lys2013Arg US rs1563044711 Spermatogenic failure 46 (SPGF46) [MIM:619095] DNAH8 Q96JB1 VAR_085189 p.Arg2926Cys US rs151313083 Spermatogenic failure 46 (SPGF46) [MIM:619095] DNAH8 Q96JB1 VAR_085190 p.Thr3707Met LB/B rs61757218 - DNAH8 Q96JB1 VAR_085191 p.Ala4024Thr US rs369473998 Spermatogenic failure 46 (SPGF46) [MIM:619095] DNAH9 Q9NYC9 VAR_036214 p.Arg771Leu US - A breast cancer sample DNAH9 Q9NYC9 VAR_036215 p.Asp2653His US - A breast cancer sample DNAH9 Q9NYC9 VAR_036216 p.Thr3664Asn US rs138874996 A breast cancer sample DNAH9 Q9NYC9 VAR_046312 p.Arg151His LB/B rs17599639 - DNAH9 Q9NYC9 VAR_046313 p.Gln445Arg LB/B rs9892256 - DNAH9 Q9NYC9 VAR_046314 p.Arg842Trp LB/B rs16945138 - DNAH9 Q9NYC9 VAR_046315 p.Arg1158Trp LB/B rs8070501 - DNAH9 Q9NYC9 VAR_046316 p.Thr1221Ala LB/B rs9916482 - DNAH9 Q9NYC9 VAR_046317 p.Met2087Val LB/B rs9892290 - DNAH9 Q9NYC9 VAR_046318 p.Asn2195Ser LB/B rs3744581 - DNAH9 Q9NYC9 VAR_046319 p.Gln2438His LB/B rs2277658 - DNAH9 Q9NYC9 VAR_046320 p.Lys2961Arg LB/B rs11870983 - DNAH9 Q9NYC9 VAR_046321 p.Lys2968Asn LB/B rs11871037 - DNAH9 Q9NYC9 VAR_046322 p.Arg3726Gln LB/B rs16945431 - DNAH9 Q9NYC9 VAR_046323 p.Arg3726Trp LB/B rs3760436 - DNAH9 Q9NYC9 VAR_046324 p.Asp4036Asn LB/B rs17612861 - DNAH9 Q9NYC9 VAR_046325 p.Met4374Ile LB/B rs1990236 - DNAH9 Q9NYC9 VAR_046326 p.Arg4443Cys LB/B rs9913494 - DNAH9 Q9NYC9 VAR_046327 p.Trp4462Arg LB/B rs8074656 - DNAH9 Q9NYC9 VAR_081803 p.Gly1674Arg US rs140721719 Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300] DNAH9 Q9NYC9 VAR_081804 p.Lys1881Glu LP/P rs1567747142 Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300] DNAH9 Q9NYC9 VAR_081806 p.Arg2965His LP/P rs375908701 Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300] DNAH9 Q9NYC9 VAR_081807 p.Arg3398Leu LP/P rs763238622 Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300] DNAH9 Q9NYC9 VAR_081809 p.Asp4123Asn LP/P rs1267599270 Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300] DNAI1 Q9UI46 VAR_016774 p.Ala8Ser LB/B rs11547035 - DNAI1 Q9UI46 VAR_016775 p.Gly515Ser LP/P rs79833450 Kartagener syndrome (KTGS) [MIM:244400] DNAI1 Q9UI46 VAR_033876 p.Ala60Val LB/B rs16931549 - DNAI1 Q9UI46 VAR_033877 p.Gln326His LB/B rs16931555 - DNAI1 Q9UI46 VAR_033878 p.Val335Ile LB/B rs11793196 - DNAI1 Q9UI46 VAR_033879 p.Val487Gly LB/B rs11999454 - DNAI2 Q9GZS0 VAR_033880 p.Ala558Thr LB/B rs1979370 - DNAI2 Q9GZS0 VAR_061140 p.Val495Ile LB/B rs28725418 - DNAI3 Q8IWG1 VAR_057630 p.Thr674Ala LB/B rs17121745 - DNAI3 Q8IWG1 VAR_057631 p.Arg798His LB/B rs709783 - DNAI4 Q5VTH9 VAR_057635 p.Gly16Ala LB/B rs1886686 - DNAI4 Q5VTH9 VAR_057636 p.Cys33Trp LB/B rs3008858 - DNAI4 Q5VTH9 VAR_057637 p.Arg832Gln LB/B rs482082 - DNAI7 Q6TDU7 VAR_043008 p.Arg33Ser LB/B rs10842496 - DNAI7 Q6TDU7 VAR_062232 p.Ala633Glu LB/B rs859146 - DNAJA3 Q96EY1 VAR_027965 p.Asn75Tyr LB/B rs1139653 - DNAJA4 Q8WW22 VAR_069064 p.His226Arg LB/B rs17852881 - DNAJB11 Q9UBS4 VAR_016092 p.Ile264Val LB/B rs8147 - DNAJB11 Q9UBS4 VAR_081002 p.Pro54Arg LP/P rs1553849919 Polycystic kidney disease 6 with or without polycystic liver disease (PKD6) [MIM:618061] DNAJB11 Q9UBS4 VAR_081003 p.Leu77Pro LP/P rs1553850185 Polycystic kidney disease 6 with or without polycystic liver disease (PKD6) [MIM:618061] DNAJB12 Q9NXW2 VAR_017864 p.Glu304Lys LB/B rs3750784 - DNAJB13 P59910 VAR_077053 p.Met278Arg LP/P rs754776389 Ciliary dyskinesia, primary, 34 (CILD34) [MIM:617091] DNAJB2 P25686 VAR_048910 p.Gly270Arg LB/B rs34127289 - DNAJB2 P25686 VAR_073286 p.Tyr5Cys LP/P rs730882140 Neuronopathy, distal hereditary motor, autosomal recessive 5 (HMNR5) [MIM:614881] DNAJB3 Q8WWF6 VAR_061142 p.Asp85Glu LB/B rs34622615 - DNAJB3 Q8WWF6 VAR_061143 p.Asp98Glu LB/B rs34150486 - DNAJB4 Q9UDY4 VAR_088469 p.Arg25Gln LP/P - Congenital myopathy 21 with early respiratory failure (CMYP21) [MIM:620326] DNAJB4 Q9UDY4 VAR_088470 p.Arg61Gly US - Congenital myopathy 21 with early respiratory failure (CMYP21) [MIM:620326] DNAJB4 Q9UDY4 VAR_088471 p.Leu262Ser LP/P - Congenital myopathy 21 with early respiratory failure (CMYP21) [MIM:620326] DNAJB6 O75190 VAR_067833 p.Phe89Ile LP/P rs387907150 Muscular dystrophy, limb-girdle, autosomal dominant 1 (LGMDD1) [MIM:603511] DNAJB6 O75190 VAR_067834 p.Phe93Leu LP/P rs387907046 Muscular dystrophy, limb-girdle, autosomal dominant 1 (LGMDD1) [MIM:603511] DNAJB6 O75190 VAR_067835 p.Pro96Arg LP/P rs387907047 Muscular dystrophy, limb-girdle, autosomal dominant 1 (LGMDD1) [MIM:603511] DNAJB6 O75190 VAR_079428 p.Pro96Leu US - - DNAJB7 Q7Z6W7 VAR_017779 p.Glu41Ala LB/B rs2269619 - DNAJB8 Q8NHS0 VAR_033881 p.Met153Leu LB/B rs35948511 - DNAJB9 Q9UBS3 VAR_048911 p.Arg136His LB/B rs17155937 - DNAJC10 Q8IXB1 VAR_031247 p.Asp76Asn LB/B rs6729801 - DNAJC10 Q8IXB1 VAR_031248 p.Tyr414Cys LB/B rs11681366 - DNAJC10 Q8IXB1 VAR_031249 p.His646Gln LB/B rs288334 - DNAJC10 Q8IXB1 VAR_048912 p.Leu347Ile LB/B rs13414223 - DNAJC11 Q9NVH1 VAR_027078 p.Val267Met LB/B rs12137794 - DNAJC11 Q9NVH1 VAR_027079 p.Thr290Ala LB/B rs200454 - DNAJC11 Q9NVH1 VAR_055703 p.Thr290Ser LB/B rs200454 - DNAJC12 Q9UKB3 VAR_048913 p.Met124Ile LB/B rs35690028 - DNAJC12 Q9UKB3 VAR_048914 p.Cys129Trp LB/B rs36099123 - DNAJC12 Q9UKB3 VAR_078797 p.Arg72Pro LP/P rs1035794099 Hyperphenylalaninemia, mild, non-BH4-deficient (HPANBH4) [MIM:617384] DNAJC13 O75165 VAR_047458 p.Ala1463Ser LB/B rs3762672 - DNAJC13 O75165 VAR_047459 p.Phe1487Cys LB/B rs4405917 - DNAJC13 O75165 VAR_047460 p.Val1995Ile LB/B rs10935014 - DNAJC13 O75165 VAR_061144 p.Pro1515Ser LB/B rs55825559 - DNAJC13 O75165 VAR_073784 p.Glu264Gln LB/B - - DNAJC13 O75165 VAR_073785 p.Asn855Ser US rs387907571 Parkinson disease (PARK) [MIM:168600] DNAJC13 O75165 VAR_073786 p.Thr1082Ile LB/B rs202127368 - DNAJC13 O75165 VAR_073787 p.Arg2115Leu LB/B rs770715465 - DNAJC13 O75165 VAR_076716 p.Leu556Ser LB/B rs749000301 - DNAJC13 O75165 VAR_076717 p.Asp674Ala LB/B rs199541720 - DNAJC13 O75165 VAR_076718 p.Val722Leu US rs146930051 Parkinson disease (PARK) [MIM:168600] DNAJC13 O75165 VAR_076719 p.Arg903Lys LB/B rs141952333 - DNAJC13 O75165 VAR_076720 p.Leu997Phe LB/B rs752189478 - DNAJC13 O75165 VAR_076721 p.Asn1135Ser LB/B rs751747947 - DNAJC13 O75165 VAR_076722 p.Arg1266Gln US rs766013346 Parkinson disease (PARK) [MIM:168600] DNAJC13 O75165 VAR_076723 p.Glu1291Gly LB/B rs61748101 - DNAJC13 O75165 VAR_076724 p.Arg1516His LB/B rs139620588 - DNAJC13 O75165 VAR_076725 p.Glu1740Gln LB/B rs142160751 - DNAJC13 O75165 VAR_076726 p.Thr1895Met US rs145242123 Parkinson disease (PARK) [MIM:168600] DNAJC13 O75165 VAR_076727 p.Ala2057Ser LB/B rs138693725 - DNAJC13 O75165 VAR_076728 p.Leu2170Trp LB/B rs140537885 - DNAJC15 Q9Y5T4 VAR_027077 p.Arg35Gly LB/B rs12015 - DNAJC21 Q5F1R6 VAR_036163 p.Asp214Asn US - A breast cancer sample DNAJC21 Q5F1R6 VAR_061145 p.Glu433Lys LB/B rs34908091 - DNAJC21 Q5F1R6 VAR_076802 p.Pro32Ala LP/P rs879253818 Bone marrow failure syndrome 3 (BMFS3) [MIM:617052] DNAJC24 Q6P3W2 VAR_036397 p.Asn23Asp US rs111299050 A breast cancer sample DNAJC30 Q96LL9 VAR_024433 p.Gly34Arg LB/B rs1128349 - DNAJC30 Q96LL9 VAR_048915 p.Phe167Leu LB/B rs13244259 - DNAJC30 Q96LL9 VAR_085951 p.Tyr51Cys LP/P rs61732167 Leber hereditary optic neuropathy, autosomal recessive 1 (LHONAR1) [MIM:619382] DNAJC30 Q96LL9 VAR_085952 p.Pro78Ser LP/P - Leber hereditary optic neuropathy, autosomal recessive 1 (LHONAR1) [MIM:619382] DNAJC30 Q96LL9 VAR_085953 p.Leu101Gln LP/P - Leber hereditary optic neuropathy, autosomal recessive 1 (LHONAR1) [MIM:619382] DNAJC5 Q9H3Z4 VAR_066555 p.Leu115Arg LP/P rs387907043 Ceroid lipofuscinosis, neuronal, 4B (Kufs type), autosomal dominant (CLN4B) [MIM:162350] DNAJC5G Q8N7S2 VAR_033882 p.Val4Gly LB/B rs17005979 - DNAJC5G Q8N7S2 VAR_033883 p.His51Arg LB/B rs13414011 - DNAJC6 O75061 VAR_026908 p.Ser671Asn LB/B rs4915691 - DNAJC6 O75061 VAR_077924 p.Met76Leu LB/B rs61757223 - DNAJC6 O75061 VAR_077925 p.Leu152Pro LB/B - - DNAJC6 O75061 VAR_077926 p.Ile264Val LB/B - - DNAJC6 O75061 VAR_077927 p.Cys441Ser LB/B rs145329294 - DNAJC6 O75061 VAR_077928 p.Arg562Cys LB/B rs770127313 - DNAJC6 O75061 VAR_077929 p.Arg870Gly LP/P rs879255630 Parkinson disease 19B, early-onset (PARK19B) [MIM:615528] DNAL1 Q4LDG9 VAR_065739 p.Asn150Ser LP/P rs387907021 Ciliary dyskinesia, primary, 16 (CILD16) [MIM:614017] DNALI1 O14645 VAR_014473 p.Ala65Val LB/B rs11749 - DNALI1 O14645 VAR_035701 p.Ile120Met US rs1266159589 A colorectal cancer sample DNASE1 P24855 VAR_002264 p.Gln31Glu LB/B rs77254040 - DNASE1 P24855 VAR_002265 p.Pro154Ala LB/B rs1799891 - DNASE1 P24855 VAR_002266 p.Arg244Gln LB/B rs1053874 - DNASE1 P24855 VAR_009300 p.Val114Met LB/B rs530214101 - DNASE1 P24855 VAR_009301 p.Arg207Cys LB/B rs148373909 - DNASE1 P24855 VAR_024434 p.Arg2Ser LB/B rs8176927 - DNASE1 P24855 VAR_024435 p.Gly127Arg LB/B rs8176919 - DNASE1 P24855 VAR_029172 p.Arg107Gly LB/B rs8176928 - DNASE1 P24855 VAR_029173 p.Cys231Tyr LB/B rs8176940 - DNASE1 P24855 VAR_029174 p.Ala246Pro LB/B rs8176939 - DNASE1 P24855 VAR_029175 p.Gly262Asp LB/B rs8176924 - DNASE1L1 P49184 VAR_048869 p.Val122Ile LB/B rs34952165 - DNASE1L3 Q13609 VAR_036079 p.Leu19Val US rs763778721 A breast cancer sample DNASE1L3 Q13609 VAR_036080 p.Gly82Arg US rs74350392 A breast cancer sample DNASE1L3 Q13609 VAR_036081 p.Tyr117Ser US - A colorectal cancer sample DNASE1L3 Q13609 VAR_059249 p.Asn96Lys LB/B rs12491947 - DNASE1L3 Q13609 VAR_061137 p.Ile243Met LB/B rs76440799 - DNASE1L3 Q13609 VAR_076797 p.Arg206Cys LB/B rs35677470 - DNASE2 O00115 VAR_012044 p.Arg314Leu LB/B rs1061192 - DNASE2 O00115 VAR_048870 p.Arg39Ile LB/B rs36075196 - DNASE2 O00115 VAR_048871 p.His204Arg LB/B rs16978744 - DNASE2 O00115 VAR_087103 p.Tyr95Cys LP/P rs201030953 Autoinflammatory-pancytopenia syndrome (AIPCS) [MIM:619858] DNASE2 O00115 VAR_087104 p.Gly116Ala LP/P - Autoinflammatory-pancytopenia syndrome (AIPCS) [MIM:619858] DNASE2 O00115 VAR_087105 p.Asp121Val LP/P - Autoinflammatory-pancytopenia syndrome (AIPCS) [MIM:619858] DNASE2B Q8WZ79 VAR_048872 p.Lys47Arg LB/B rs3754274 - DNASE2B Q8WZ79 VAR_059250 p.Gln3His LB/B rs3738573 - DNASE2B Q8WZ79 VAR_059251 p.Arg51Lys LB/B rs3754274 - DNER Q8NFT8 VAR_028380 p.Pro433Leu LB/B rs17853365 - DNHD1 Q96M86 VAR_033353 p.Arg1358Cys US rs12574381 Spermatogenic failure 65 (SPGF65) [MIM:619712] DNHD1 Q96M86 VAR_033354 p.Lys1896Asn LB/B rs16915277 - DNHD1 Q96M86 VAR_033355 p.Phe2041Leu LB/B rs11825154 - DNHD1 Q96M86 VAR_037388 p.Arg3830His LB/B rs10769699 - DNHD1 Q96M86 VAR_037389 p.Ile4666Thr LB/B rs11604362 - DNHD1 Q96M86 VAR_039308 p.Val240Glu LB/B rs2555158 - DNHD1 Q96M86 VAR_039309 p.Asp317Asn LB/B rs2555152 - DNHD1 Q96M86 VAR_039310 p.His418Tyr LB/B rs4758423 - DNHD1 Q96M86 VAR_039311 p.Gln560Glu LB/B rs11603869 - DNHD1 Q96M86 VAR_056829 p.Gln279Pro LB/B rs11605196 - DNHD1 Q96M86 VAR_056830 p.Phe403Leu LB/B rs11040904 - DNHD1 Q96M86 VAR_086769 p.Arg304Gln LP/P rs369544858 Spermatogenic failure 65 (SPGF65) [MIM:619712] DNHD1 Q96M86 VAR_086771 p.Arg1854Cys LP/P rs1035842147 Spermatogenic failure 65 (SPGF65) [MIM:619712] DNHD1 Q96M86 VAR_086774 p.Tyr2970Cys US rs187626415 Spermatogenic failure 65 (SPGF65) [MIM:619712] DNHD1 Q96M86 VAR_086777 p.His4158Arg US - Spermatogenic failure 65 (SPGF65) [MIM:619712] DNHD1 Q96M86 VAR_086778 p.Val4745Ala US rs185616789 Spermatogenic failure 65 (SPGF65) [MIM:619712] DNLZ Q5SXM8 VAR_053993 p.Pro169His LB/B rs3812553 - DNLZ Q5SXM8 VAR_053994 p.Ser178Thr LB/B rs3812552 - DNM1 Q05193 VAR_048904 p.Asp744Asn LB/B rs1042007 - DNM1 Q05193 VAR_073710 p.Ala177Pro LP/P rs587777860 Developmental and epileptic encephalopathy 31A (DEE31A) [MIM:616346] DNM1 Q05193 VAR_073711 p.Lys206Asn LP/P rs587777861 Developmental and epileptic encephalopathy 31A (DEE31A) [MIM:616346] DNM1 Q05193 VAR_073712 p.Arg237Trp LP/P rs760270633 Developmental and epileptic encephalopathy 31A (DEE31A) [MIM:616346] DNM1 Q05193 VAR_073713 p.Gly359Ala LP/P rs587777862 Developmental and epileptic encephalopathy 31A (DEE31A) [MIM:616346] DNM1L O00429 VAR_022446 p.Ser71Thr LB/B rs1064610 - DNM1L O00429 VAR_030489 p.Glu426Asp LB/B rs2389105 - DNM1L O00429 VAR_063704 p.Ala395Asp LP/P rs121908531 Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) [MIM:614388] DNM1L O00429 VAR_076316 p.Gly362Asp US rs879255685 Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) [MIM:614388] DNM1L O00429 VAR_076317 p.Gly362Ser LP/P rs886037861 Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) [MIM:614388] DNM1L O00429 VAR_076318 p.Arg403Cys LP/P rs863223953 Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) [MIM:614388] DNM1L O00429 VAR_080869 p.Glu2Ala LP/P rs1555229948 Optic atrophy 5 (OPA5) [MIM:610708] DNM1L O00429 VAR_080870 p.Ser36Gly LP/P rs879255688 Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) [MIM:614388] DNM1L O00429 VAR_080871 p.Ala192Glu LP/P rs1555119216 Optic atrophy 5 (OPA5) [MIM:610708] DNM1L O00429 VAR_080872 p.Leu406Ser LP/P - Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) [MIM:614388] DNM1P46 Q6ZS02 VAR_032224 p.Leu147Val LB/B rs4965539 - DNM2 P50570 VAR_031961 p.Pro263Leu LB/B rs3745674 - DNM2 P50570 VAR_031962 p.Glu368Lys LP/P rs121909092 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_031963 p.Arg369Gln LP/P rs121909089 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_031964 p.Arg369Trp LP/P rs121909090 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_031965 p.Arg465Trp LP/P rs121909091 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_031967 p.Lys562Glu LP/P rs121909088 Charcot-Marie-Tooth disease, dominant intermediate B (CMTDIB) [MIM:606482] DNM2 P50570 VAR_031967 p.Lys562Glu LP/P rs121909088 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_039041 p.Ala618Thr LP/P rs773598203 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_039042 p.Ser619Leu LP/P rs121909095 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_039043 p.Ser619Trp LP/P rs121909095 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_062574 p.Gly537Cys LP/P rs121909093 Charcot-Marie-Tooth disease, axonal, 2M (CMT2M) [MIM:606482] DNM2 P50570 VAR_062575 p.Leu570His LP/P rs121909094 Charcot-Marie-Tooth disease, axonal, 2M (CMT2M) [MIM:606482] DNM2 P50570 VAR_062576 p.Glu650Lys LP/P - Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_068365 p.Glu368Gln LP/P - Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_068366 p.Arg522Cys LP/P rs2072577342 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_068367 p.Arg522His LP/P rs587783595 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_068368 p.Arg523Gly LP/P rs587783596 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_068369 p.Glu560Lys LP/P rs879254086 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_068370 p.Ala618Asp LP/P rs1555715869 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_068371 p.Leu621Pro LP/P rs587783597 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_068372 p.Pro627His LP/P - Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_068373 p.Pro627Arg LP/P rs587783598 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_068425 p.Gly358Arg LP/P rs267606772 Charcot-Marie-Tooth disease, axonal, 2M (CMT2M) [MIM:606482] DNM2 P50570 VAR_070163 p.Phe379Val LP/P rs397514735 Lethal congenital contracture syndrome 5 (LCCS5) [MIM:615368] DNMBP Q6XZF7 VAR_024339 p.Cys1413Trp LB/B rs11190305 - DNMBP Q6XZF7 VAR_050955 p.Glu81Asp LB/B rs12267912 - DNMBP Q6XZF7 VAR_050956 p.Asn373Lys LB/B rs35924554 - DNMBP Q6XZF7 VAR_050957 p.Asn914Lys LB/B rs7919507 - DNMT1 P26358 VAR_024605 p.His97Arg LB/B rs16999593 - DNMT1 P26358 VAR_051960 p.Ile311Val LB/B rs2228612 - DNMT1 P26358 VAR_065966 p.Tyr495Cys LP/P rs199473690 Neuropathy, hereditary sensory, 1E (HSN1E) [MIM:614116] DNMT1 P26358 VAR_070055 p.Ala554Val LP/P rs397509392 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) [MIM:604121] DNMT1 P26358 VAR_070056 p.Gly589Ala LP/P rs397509393 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) [MIM:604121] DNMT1 P26358 VAR_070057 p.Val590Phe LP/P rs397509391 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) [MIM:604121] DNMT3A Q9Y6K1 VAR_067234 p.Gly699Asp US rs761064473 A patient with chronic myelomonocytic leukemia DNMT3A Q9Y6K1 VAR_067236 p.Arg882Cys LP/P rs377577594 Leukemia, acute myelogenous (AML) [MIM:601626] DNMT3A Q9Y6K1 VAR_067236 p.Arg882Cys LP/P rs377577594 Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A Q9Y6K1 VAR_067237 p.Arg882His LP/P rs147001633 Leukemia, acute myelogenous (AML) [MIM:601626] DNMT3A Q9Y6K1 VAR_067237 p.Arg882His LP/P rs147001633 Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A Q9Y6K1 VAR_067238 p.Arg882Pro US rs147001633 A patient with chronic myelomonocytic leukemia DNMT3A Q9Y6K1 VAR_071463 p.Ile310Asn LP/P rs587777508 Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A Q9Y6K1 VAR_071464 p.Gly532Ser LP/P rs951361433 Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A Q9Y6K1 VAR_071465 p.Met548Lys LP/P rs587777509 Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A Q9Y6K1 VAR_071466 p.Cys549Arg LP/P - Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A Q9Y6K1 VAR_071467 p.Leu648Pro LP/P rs587777507 Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A Q9Y6K1 VAR_071468 p.Pro700Leu LP/P rs772368909 Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A Q9Y6K1 VAR_071469 p.Arg749Cys LP/P rs754613602 Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A Q9Y6K1 VAR_071470 p.Asn838Asp LP/P rs961377711 Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A Q9Y6K1 VAR_071471 p.Phe902Ser LP/P rs587777510 Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A Q9Y6K1 VAR_071472 p.Pro904Leu LP/P rs149095705 Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A Q9Y6K1 VAR_077522 p.Tyr365Cys US rs144062658 Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A Q9Y6K1 VAR_077523 p.Asp529Asn US rs962805778 Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A Q9Y6K1 VAR_077524 p.Arg771Gln US rs757823678 Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A Q9Y6K1 VAR_077525 p.Val778Gly US rs979932565 Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A Q9Y6K1 VAR_083539 p.Trp330Arg LP/P - Heyn-Sproul-Jackson syndrome (HESJAS) [MIM:618724] DNMT3A Q9Y6K1 VAR_083540 p.Asp333Asn LP/P - Heyn-Sproul-Jackson syndrome (HESJAS) [MIM:618724] DNMT3B Q9UBC3 VAR_011499 p.Ala603Thr LP/P rs121908943 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011500 p.Gly663Ser LP/P rs121908942 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011501 p.Val726Gly LP/P rs121908941 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011503 p.Asp817Gly LP/P rs121908939 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011504 p.Val818Met LP/P rs121908940 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011506 p.Ala585Val LP/P - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011507 p.Val606Ala LP/P rs867732105 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011508 p.Val699Gly LP/P - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011509 p.Ala766Pro LP/P rs1191203668 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011510 p.His814Arg LP/P rs1219696128 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_022579 p.Ser270Pro LP/P rs121908947 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_022580 p.Leu664Pro LP/P - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_022581 p.Arg840Gln LP/P rs121908946 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_033885 p.Arg54Pro LB/B rs17123590 - DNMT3B Q9UBC3 VAR_077527 p.Cys527Arg LP/P - Facioscapulohumeral muscular dystrophy 4, digenic (FSHD4) [MIM:619478] DNMT3B Q9UBC3 VAR_077528 p.Ala585Thr LP/P rs750849178 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_077529 p.Pro691Leu LP/P rs889145646 Facioscapulohumeral muscular dystrophy 4, digenic (FSHD4) [MIM:619478] DNMT3B Q9UBC3 VAR_077530 p.Val836Met US rs866792483 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3L Q9UJW3 VAR_051962 p.Arg278Gly LB/B rs7354779 - DNTT P04053 VAR_058200 p.Arg112Gly LB/B rs6584066 - DNTTIP1 Q9H147 VAR_014956 p.Ala183Thr LB/B rs408911 - DNTTIP2 Q5QJE6 VAR_038748 p.Glu309Asp LB/B rs3747965 - DNTTIP2 Q5QJE6 VAR_038749 p.Thr341Ala LB/B rs3179879 - DNTTIP2 Q5QJE6 VAR_038750 p.Ala430Val LB/B rs35650636 - DNTTIP2 Q5QJE6 VAR_038751 p.Tyr676Phe LB/B rs12748154 - DNTTIP2 Q5QJE6 VAR_061710 p.Gly477Glu LB/B rs41292661 - DOC2A Q14183 VAR_019656 p.Gly48Ser LB/B rs1140239 - DOC2B Q14184 VAR_065743 p.Arg209Leu LB/B rs369343321 - DOCK1 Q14185 VAR_059971 p.Ala1793Thr LB/B rs869801 - DOCK11 Q5JSL3 VAR_034854 p.Ile813Phe LB/B rs16995229 - DOCK11 Q5JSL3 VAR_088240 p.Thr275Ser US - - DOCK11 Q5JSL3 VAR_088241 p.Asp414Tyr US - - DOCK11 Q5JSL3 VAR_088242 p.Leu1298Arg US - - DOCK11 Q5JSL3 VAR_088243 p.His1336Arg US - - DOCK11 Q5JSL3 VAR_088244 p.Arg1366Gln US - - DOCK11 Q5JSL3 VAR_088245 p.Leu1706Ser US - - DOCK11 Q5JSL3 VAR_088246 p.Arg1885Cys US - - DOCK2 Q92608 VAR_015822 p.Ser1746Thr LB/B rs2270898 - DOCK2 Q92608 VAR_022137 p.Thr1779Ser LB/B rs2270898 - DOCK2 Q92608 VAR_053064 p.Asp1558Ala LB/B rs13179480 - DOCK2 Q92608 VAR_073859 p.Arg751Ser LP/P rs1581090174 Immunodeficiency 40 (IMD40) [MIM:616433] DOCK2 Q92608 VAR_073860 p.Arg1104Trp LP/P rs780318765 Immunodeficiency 40 (IMD40) [MIM:616433] DOCK3 Q8IZD9 VAR_081832 p.Arg392Gln US rs199600118 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia (NEDIDHA) [MIM:618292] DOCK3 Q8IZD9 VAR_081833 p.Lys1296Arg US rs201184598 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia (NEDIDHA) [MIM:618292] DOCK3 Q8IZD9 VAR_081834 p.Met1674Leu US rs142515812 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia (NEDIDHA) [MIM:618292] DOCK4 Q8N1I0 VAR_015823 p.Thr87Ile LB/B rs1396518456 - DOCK4 Q8N1I0 VAR_015824 p.Glu606Gln LB/B - - DOCK4 Q8N1I0 VAR_015825 p.Lys1059Thr US - - DOCK4 Q8N1I0 VAR_015826 p.Pro1718Leu US - - DOCK4 Q8N1I0 VAR_015827 p.Pro1733Ala LB/B rs150569245 - DOCK4 Q8N1I0 VAR_015828 p.Ser1755Pro US - - DOCK4 Q8N1I0 VAR_015829 p.Val1884Met LB/B rs369715294 - DOCK4 Q8N1I0 VAR_015830 p.Val1914Ile LB/B rs12705795 - DOCK4 Q8N1I0 VAR_015831 p.Pro1917Leu LB/B rs199706346 - DOCK4 Q8N1I0 VAR_015832 p.Ser1926Leu LB/B rs34597439 - DOCK4 Q8N1I0 VAR_057517 p.Asn535Asp LB/B rs12705801 - DOCK4 Q8N1I0 VAR_057518 p.Arg853His LB/B rs2074130 - DOCK4 Q8N1I0 VAR_057519 p.Arg1570Lys LB/B rs3757650 - DOCK4 Q8N1I0 VAR_057520 p.Phe1580Leu LB/B rs3757651 - DOCK4 Q8N1I0 VAR_057521 p.Gln1822Lys LB/B rs10281942 - DOCK5 Q9H7D0 VAR_033886 p.Gln250Arg LB/B rs17053341 - DOCK5 Q9H7D0 VAR_033887 p.Glu1836Lys LB/B rs35688737 - DOCK5 Q9H7D0 VAR_053065 p.Gln1023Arg LB/B rs2271111 - DOCK5 Q9H7D0 VAR_053066 p.Lys1285Arg LB/B rs2659585 - DOCK6 Q96HP0 VAR_029830 p.Pro250Leu LB/B rs12978266 - DOCK6 Q96HP0 VAR_029831 p.Pro555Leu LB/B rs12609039 - DOCK6 Q96HP0 VAR_029832 p.Gly665Arg LB/B rs17001264 - DOCK6 Q96HP0 VAR_029833 p.Val1420Leu LB/B rs8108071 - DOCK6 Q96HP0 VAR_057522 p.Arg826Cys LB/B rs35881692 - DOCK6 Q96HP0 VAR_057523 p.Ala1442Thr LB/B rs34243815 - DOCK7 Q96N67 VAR_057524 p.Ile824Thr LB/B rs35400360 - DOCK8 Q8NF50 VAR_033888 p.Pro97Thr LB/B rs529208 - DOCK8 Q8NF50 VAR_033889 p.Glu237Lys LB/B rs11789099 - DOCK8 Q8NF50 VAR_033890 p.Asn413Ser LB/B rs10970979 - DOCK8 Q8NF50 VAR_033891 p.Ala597Val LB/B rs17673268 - DOCK8 Q8NF50 VAR_033892 p.Arg1008Trp LB/B rs16937932 - DOCK8 Q8NF50 VAR_033893 p.Ala1970Pro LB/B rs34908836 - DOCK8 Q8NF50 VAR_059972 p.Glu169Lys LB/B rs11789099 - DOCK8 Q8NF50 VAR_063753 p.Lys473Arg LP/P rs112321280 Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections (HIES2) [MIM:243700] DOCK8 Q8NF50 VAR_071964 p.Ile652Val LB/B rs1381340726 - DOCK8-AS1 Q5T8R8 VAR_050824 p.Leu43Arg LB/B rs636922 - DOCK8-AS1 Q5T8R8 VAR_050825 p.Arg178Gln LB/B rs2236547 - DOCK8-AS1 Q5T8R8 VAR_050826 p.Arg231Gly LB/B rs540473 - DOCK9 Q9BZ29 VAR_053067 p.Lys1416Glu LB/B rs16955934 - DOCK9 Q9BZ29 VAR_062000 p.Ala455Thr LB/B rs56010605 - DOHH Q9BU89 VAR_087785 p.Pro152Leu US - Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment (NEDMVIC) [MIM:620066] DOHH Q9BU89 VAR_087786 p.Asn184Lys US - Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment (NEDMVIC) [MIM:620066] DOHH Q9BU89 VAR_087787 p.Pro223Leu US - Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment (NEDMVIC) [MIM:620066] DOHH Q9BU89 VAR_087788 p.Ile249Thr LP/P - Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment (NEDMVIC) [MIM:620066] DOK2 O60496 VAR_030951 p.Ala152Pro LB/B rs1140295 - DOK2 O60496 VAR_030952 p.Ser394Ala LB/B rs2242241 - DOK2 O60496 VAR_053068 p.Pro274Leu LB/B rs34215892 - DOK3 Q7L591 VAR_057525 p.Arg12Pro LB/B rs3749728 - DOK3 Q7L591 VAR_062002 p.Gly22Arg LB/B rs41275297 - DOK7 Q18PE1 VAR_027544 p.Gly180Ala LP/P rs118203994 Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_027545 p.Asp197Asn LB/B rs16844422 - DOK7 Q18PE1 VAR_027546 p.Arg261His LB/B rs16844460 - DOK7 Q18PE1 VAR_027547 p.Gln296Arg LB/B rs6811423 - DOK7 Q18PE1 VAR_027548 p.Pro415Ser LB/B rs16844464 - DOK7 Q18PE1 VAR_027549 p.Gly427Asp LB/B rs2020433 - DOK7 Q18PE1 VAR_027550 p.Arg451Trp LB/B rs16844470 - DOK7 Q18PE1 VAR_027551 p.Gly461Asp LB/B rs9684786 - DOK7 Q18PE1 VAR_031246 p.Arg158Gln LP/P rs754633490 Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_050508 p.Gly379Arg LB/B rs1487831014 - DOK7 Q18PE1 VAR_068750 p.Glu3Lys LP/P rs763233743 Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068751 p.Pro31Thr LP/P - Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068752 p.Ala33Val LP/P - Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068753 p.Ser45Leu LB/B rs62272670 - DOK7 Q18PE1 VAR_068754 p.Thr77Met LP/P rs940346413 Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068755 p.Ala99Val LB/B rs138010842 - DOK7 Q18PE1 VAR_068756 p.Gly109Cys LP/P - Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068757 p.Val116Met LP/P rs1429428597 Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068758 p.His132Gln LP/P - Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068759 p.Val139Leu LP/P rs571769859 Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068760 p.Pro146Leu LP/P rs770987150 Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068761 p.Leu157Arg LP/P - Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068762 p.Gly161Arg LP/P rs758131044 Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068763 p.Gly166Arg LP/P rs781227659 Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068764 p.Gly171Asp LP/P rs1286619522 Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068765 p.Gly171Arg LP/P - Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068766 p.Gly172Arg LP/P rs768892432 Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068767 p.Gly180Val LP/P - Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068768 p.His272Gln LB/B rs115614731 - DOK7 Q18PE1 VAR_068769 p.Arg323Cys LB/B rs150728781 - DOK7 Q18PE1 VAR_068770 p.Glu382Lys LB/B rs560463670 - DOK7 Q18PE1 VAR_068771 p.Arg402Gln LB/B rs370039804 - DOK7 Q18PE1 VAR_068772 p.Ala440Thr LB/B rs753026831 - DOK7 Q18PE1 VAR_068773 p.Pro469His LP/P rs147185207 Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] DOK7 Q18PE1 VAR_068774 p.Pro503Thr LB/B rs184556570 - DOLK Q9UPQ8 VAR_032851 p.Cys99Ser LP/P rs137853109 Congenital disorder of glycosylation 1M (CDG1M) [MIM:610768] DOLK Q9UPQ8 VAR_032852 p.Tyr441Ser LP/P rs137853110 Congenital disorder of glycosylation 1M (CDG1M) [MIM:610768] DOLK Q9UPQ8 VAR_049709 p.Asp224Val LB/B rs17485436 - DONSON Q9NYP3 VAR_079330 p.Ser28Arg LB/B rs768071555 - DONSON Q9NYP3 VAR_079331 p.Cys278Arg LP/P - Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604] DONSON Q9NYP3 VAR_079332 p.Tyr282Cys LP/P - Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604] DONSON Q9NYP3 VAR_079333 p.Phe292Leu LP/P rs779803447 Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604] DONSON Q9NYP3 VAR_079338 p.Pro433Ser LP/P - Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604] DONSON Q9NYP3 VAR_079339 p.Met446Thr LP/P rs1135401959 Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604] DONSON Q9NYP3 VAR_079340 p.Lys489Thr US rs146664036 Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604] DONSON Q9NYP3 VAR_079341 p.Glu504Lys LP/P rs374688527 Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604] DOP1A Q5JWR5 VAR_034690 p.Arg596Gln LB/B rs4706980 - DOP1A Q5JWR5 VAR_034691 p.Gln1781Leu LB/B rs9444039 - DOP1A Q5JWR5 VAR_036607 p.Asp1155His US - A breast cancer sample DOP1B Q9Y3R5 VAR_027939 p.Cys1118Gly LB/B rs4817788 - DOP1B Q9Y3R5 VAR_027940 p.Pro1149His LB/B rs3746866 - DOP1B Q9Y3R5 VAR_027941 p.Arg1217Ser LB/B rs3746867 - DOP1B Q9Y3R5 VAR_027942 p.Gly2139Glu LB/B rs3827183 - DOP1B Q9Y3R5 VAR_034688 p.Ser1021Trp LB/B rs7278340 - DOT1L Q8TEK3 VAR_014287 p.Leu726Met LB/B rs880525 - DOT1L Q8TEK3 VAR_014288 p.Gly1386Ser LB/B rs3815308 - DOT1L Q8TEK3 VAR_014289 p.Val1418Leu LB/B rs2302061 - DOT1L Q8TEK3 VAR_088679 p.Cys45Gly US - - DOT1L Q8TEK3 VAR_088680 p.Thr100Met LB/B rs781606489 - DOT1L Q8TEK3 VAR_088681 p.Glu123Lys US - - DOT1L Q8TEK3 VAR_088682 p.Glu129Lys US - - DOT1L Q8TEK3 VAR_088683 p.Arg292Cys LB/B - - DOT1L Q8TEK3 VAR_088684 p.Asp451Gly LB/B rs377185393 - DOT1L Q8TEK3 VAR_088685 p.Leu626Val US - - DOT1L Q8TEK3 VAR_088686 p.Arg853Cys US - - DOT1L Q8TEK3 VAR_088687 p.Lys1025Met US - - DPAGT1 Q9H3H5 VAR_011391 p.Ile393Val LB/B rs643788 - DPAGT1 Q9H3H5 VAR_017243 p.Tyr170Cys LP/P rs28934876 Congenital disorder of glycosylation 1J (CDG1J) [MIM:608093] DPAGT1 Q9H3H5 VAR_036422 p.Met9Ile US - A breast cancer sample DPAGT1 Q9H3H5 VAR_068810 p.Met108Ile LP/P rs376039938 Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750] DPAGT1 Q9H3H5 VAR_068811 p.Val117Ile LP/P rs387907243 Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750] DPAGT1 Q9H3H5 VAR_068812 p.Leu120Met LP/P rs387907244 Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750] DPAGT1 Q9H3H5 VAR_068813 p.Gly160Ser LP/P rs762676399 Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750] DPAGT1 Q9H3H5 VAR_068814 p.Gly192Ser LP/P rs768464558 Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750] DPAGT1 Q9H3H5 VAR_068815 p.Val264Gly LP/P rs387907245 Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750] DPCD Q9BVM2 VAR_039574 p.Ser56Arg LB/B rs1331419018 - DPCD Q9BVM2 VAR_039575 p.Leu156Ser LB/B rs7006 - DPEP1 P16444 VAR_036496 p.Arg246His US rs1043397364 A colorectal cancer sample DPEP1 P16444 VAR_061375 p.Glu351Lys LB/B rs1126464 - DPEP1 P16444 VAR_061376 p.Glu351Gln LB/B rs1126464 - DPEP2 Q9H4A9 VAR_033894 p.His468Asp LB/B rs1133090 - DPEP2 Q9H4A9 VAR_060230 p.Arg201Pro LB/B rs255051 - DPF2 Q92785 VAR_081047 p.Cys276Phe LP/P rs1555031372 Coffin-Siris syndrome 7 (CSS7) [MIM:618027] DPF2 Q92785 VAR_081048 p.Cys330Trp LP/P rs1555031500 Coffin-Siris syndrome 7 (CSS7) [MIM:618027] DPF2 Q92785 VAR_081049 p.Asp346Gly LP/P rs1555032044 Coffin-Siris syndrome 7 (CSS7) [MIM:618027] DPF2 Q92785 VAR_081050 p.Arg350His LP/P rs1555032051 Coffin-Siris syndrome 7 (CSS7) [MIM:618027] DPF2 Q92785 VAR_081051 p.Trp369Arg LP/P - Coffin-Siris syndrome 7 (CSS7) [MIM:618027] DPF3 Q92784 VAR_047771 p.Arg177His LB/B rs17855717 - DPH1 Q9BZG8 VAR_036702 p.Ala2Val US rs778705666 Ovarian cancer DPH1 Q9BZG8 VAR_036703 p.Ala29Asp US - Ovarian cancer DPH1 Q9BZG8 VAR_036704 p.Leu330Val US rs35394823 Ovarian cancer DPH1 Q9BZG8 VAR_036705 p.Ser384Arg US - Ovarian cancer DPH1 Q9BZG8 VAR_055706 p.Lys221Arg LB/B rs1131600 - DPH1 Q9BZG8 VAR_059255 p.Ile46Met LB/B rs8070453 - DPH1 Q9BZG8 VAR_076413 p.Leu229Pro LP/P rs730882250 Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 (DEDSSH1) [MIM:616901] DPH1 Q9BZG8 VAR_086296 p.Tyr107Cys LP/P rs772969956 Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 (DEDSSH1) [MIM:616901] DPH1 Q9BZG8 VAR_086297 p.Leu120Pro LP/P rs200530055 Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 (DEDSSH1) [MIM:616901] DPH1 Q9BZG8 VAR_086298 p.Leu159Pro LP/P - Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 (DEDSSH1) [MIM:616901] DPH2 Q9BQC3 VAR_086299 p.Arg201Cys LP/P rs767455462 Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 (DEDSSH2) [MIM:620062] DPH5 Q9H2P9 VAR_087842 p.Asn110Ser LP/P - Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (NEDSFF) [MIM:620070] DPH5 Q9H2P9 VAR_087844 p.His260Arg LP/P - Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (NEDSFF) [MIM:620070] DPH6 Q7L8W6 VAR_031403 p.Gly41Glu LB/B rs34907758 - DPH6 Q7L8W6 VAR_031404 p.Pro236Arg LB/B rs10519996 - DPH7 Q9BTV6 VAR_053437 p.Gly158Arg LB/B rs821314 - DPM1 O60762 VAR_012341 p.Arg92Gly LP/P rs121908583 Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799] DPM1 O60762 VAR_019841 p.Ser248Pro LP/P rs587777114 Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799] DPM1 O60762 VAR_070592 p.Gly152Val LP/P rs587777116 Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799] DPM2 O94777 VAR_033895 p.Thr76Ser LB/B rs7997 - DPM2 O94777 VAR_069745 p.Tyr23Cys LP/P rs397514503 Congenital disorder of glycosylation 1U (CDG1U) [MIM:615042] DPM3 Q9P2X0 VAR_062518 p.Leu85Ser LP/P rs121908155 Muscular dystrophy-dystroglycanopathy limb-girdle C15 (MDDGC15) [MIM:612937] DPM3 Q9P2X0 VAR_085122 p.Leu14Pro US rs778481307 Muscular dystrophy-dystroglycanopathy limb-girdle C15 (MDDGC15) [MIM:612937] DPM3 Q9P2X0 VAR_085123 p.Pro42Ala US rs745692004 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B15 (MDDGB15) [MIM:618992] DPP10 Q8N608 VAR_057061 p.Ala340Pro LB/B rs2053724 - DPP10 Q8N608 VAR_057062 p.Ser517Asn LB/B rs13421193 - DPP10 Q8N608 VAR_059759 p.Val401Ile LB/B rs1446495 - DPP3 Q9NY33 VAR_021850 p.Arg678His LB/B rs2305535 - DPP3 Q9NY33 VAR_033494 p.Arg76His LB/B rs11826683 - DPP3 Q9NY33 VAR_033495 p.Gln145His LB/B rs11550299 - DPP3 Q9NY33 VAR_051597 p.Glu690Lys LB/B rs12421620 - DPP4 P27487 VAR_084545 p.Val266Ile LB/B rs56179129 - DPP6 P42658 VAR_051579 p.Leu854Pro LB/B rs3734960 - DPP6 P42658 VAR_073680 p.Met385Leu LP/P rs786205143 Intellectual developmental disorder, autosomal dominant 33 (MRD33) [MIM:616311] DPP7 Q9UHL4 VAR_047087 p.Ala89Gly LB/B rs10747049 - DPP9 Q86TI2 VAR_088503 p.Gly138Ser LP/P - Hatipoglu immunodeficiency syndrome (HATIS) [MIM:620331] DPPA2 Q7Z7J5 VAR_028087 p.Arg131Gln LB/B rs9809030 - DPPA3 Q6W0C5 VAR_030533 p.Glu51Gln LB/B rs2024320 - DPPA4 Q7L190 VAR_060372 p.Ile55Val LB/B rs3762648 - DPPA4 Q7L190 VAR_060373 p.Ser226Phe LB/B rs3905734 - DPT Q07507 VAR_048888 p.Val201Ile LB/B rs6698023 - DPY19L1 Q2PZI1 VAR_037332 p.Gly502Val LB/B rs1637696 - DPY19L2 Q6NUT2 VAR_037333 p.Met37Val LB/B rs10878075 - DPY19L2 Q6NUT2 VAR_037334 p.Ala41Val LB/B rs10878074 - DPY19L2 Q6NUT2 VAR_037335 p.Ser51Ala LB/B rs10878073 - DPY19L2 Q6NUT2 VAR_062214 p.Val757Ile LB/B rs12314553 - DPY19L2 Q6NUT2 VAR_086978 p.His192Arg US - Spermatogenic failure 9 (SPGF9) [MIM:613958] DPY19L2 Q6NUT2 VAR_086979 p.Glu196Gln US - Spermatogenic failure 9 (SPGF9) [MIM:613958] DPY19L2 Q6NUT2 VAR_086980 p.Arg290His LP/P rs147579680 Spermatogenic failure 9 (SPGF9) [MIM:613958] DPY19L2 Q6NUT2 VAR_086981 p.Arg298Cys LP/P rs587777206 Spermatogenic failure 9 (SPGF9) [MIM:613958] DPY19L2 Q6NUT2 VAR_086982 p.Arg298His LP/P rs752764341 Spermatogenic failure 9 (SPGF9) [MIM:613958] DPY19L2 Q6NUT2 VAR_086983 p.Gln309Lys US - Spermatogenic failure 9 (SPGF9) [MIM:613958] DPY19L2 Q6NUT2 VAR_086984 p.Glu480Lys US - Spermatogenic failure 9 (SPGF9) [MIM:613958] DPY19L2 Q6NUT2 VAR_086985 p.Thr493Arg US rs1592498429 Spermatogenic failure 9 (SPGF9) [MIM:613958] DPY19L2P2 Q6ZN68 VAR_043009 p.Met66Val LB/B rs7796589 - DPY19L2P2 Q6ZN68 VAR_043010 p.Asn333Ile LB/B rs17136078 - DPY19L3 Q6ZPD9 VAR_037336 p.Met350Val LB/B rs8105178 - DPYD Q12882 VAR_005173 p.Cys29Arg LP/P rs1801265 Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270] DPYD Q12882 VAR_005174 p.Arg235Trp LP/P rs1801266 Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270] DPYD Q12882 VAR_005175 p.Ser534Asn LB/B rs1801158 - DPYD Q12882 VAR_005176 p.Ile543Val LB/B rs1801159 - DPYD Q12882 VAR_005177 p.Arg886His LP/P rs1801267 Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270] DPYD Q12882 VAR_005178 p.Val995Phe LB/B rs1801268 - DPYD Q12882 VAR_014760 p.Val732Ile LB/B rs1801160 - DPYD Q12882 VAR_054034 p.Met166Val LB/B rs2297595 - DPYS Q14117 VAR_002267 p.Thr68Arg LP/P - Dihydropyrimidinase deficiency (DPYSD) [MIM:222748] DPYS Q14117 VAR_002268 p.Gln334Arg LP/P rs121964923 Dihydropyrimidinase deficiency (DPYSD) [MIM:222748] DPYS Q14117 VAR_002269 p.Trp360Arg LP/P rs121964924 Dihydropyrimidinase deficiency (DPYSD) [MIM:222748] DPYS Q14117 VAR_002270 p.Gly435Arg LP/P rs267606773 Dihydropyrimidinase deficiency (DPYSD) [MIM:222748] DPYS Q14117 VAR_002271 p.Arg490Thr LP/P - Dihydropyrimidinase deficiency (DPYSD) [MIM:222748] DPYSL2 Q16555 VAR_022016 p.Ala118Thr LB/B rs2228979 - DPYSL2 Q16555 VAR_036316 p.Arg481Cys US rs1337153084 A colorectal cancer sample DPYSL3 Q14195 VAR_020485 p.Ala442Ser LB/B rs2304044 - DPYSL5 Q9BPU6 VAR_086051 p.Glu41Lys LP/P - Ritscher-Schinzel syndrome 4 (RTSC4) [MIM:619435] DPYSL5 Q9BPU6 VAR_086052 p.Gly47Arg LP/P - Ritscher-Schinzel syndrome 4 (RTSC4) [MIM:619435] DR1 Q01658 VAR_034506 p.Glu171Asp LB/B rs3088371 - DRAM2 Q6UX65 VAR_075074 p.Tyr27His LP/P rs786205662 Cone-rod dystrophy 21 (CORD21) [MIM:616502] DRAM2 Q6UX65 VAR_075075 p.Ser44Asn LP/P rs786205665 Cone-rod dystrophy 21 (CORD21) [MIM:616502] DRAM2 Q6UX65 VAR_075077 p.His121Leu LP/P rs786205664 Cone-rod dystrophy 21 (CORD21) [MIM:616502] DRAXIN Q8NBI3 VAR_030114 p.Leu37Phe LB/B rs11121804 - DRC1 Q96MC2 VAR_030625 p.Lys357Glu LB/B rs3795958 - DRC1 Q96MC2 VAR_030626 p.Trp399Arg LB/B rs939820 - DRC1 Q96MC2 VAR_030627 p.Val633Phe LB/B rs12623642 - DRC1 Q96MC2 VAR_030628 p.Ser702Ile LB/B rs3172008 - DRC1 Q96MC2 VAR_057758 p.Val734Met LB/B rs35313480 - DRC3 Q9H069 VAR_025625 p.Arg191Trp LB/B rs4584886 - DRC3 Q9H069 VAR_051120 p.Arg159Gln LB/B rs8072048 - DRC3 Q9H069 VAR_051121 p.Ala364Val LB/B rs11656629 - DRC7 Q8IY82 VAR_030898 p.Cys186Ser LB/B rs7196016 - DRC7 Q8IY82 VAR_030899 p.Pro433Leu LB/B rs3809611 - DRC7 Q8IY82 VAR_030900 p.Asn581Lys LB/B rs2923144 - DRC7 Q8IY82 VAR_030901 p.Cys766Arg LB/B rs2923147 - DRC7 Q8IY82 VAR_050738 p.Leu120Met LB/B rs11649000 - DRC7 Q8IY82 VAR_055286 p.Pro521His LB/B rs17853687 - DRC7 Q8IY82 VAR_061580 p.Asp51Asn LB/B rs55645458 - DRC7 Q8IY82 VAR_061581 p.Val241Glu LB/B rs58373934 - DRD1 P21728 VAR_014670 p.Thr37Pro LB/B rs5327 - DRD1 P21728 VAR_014671 p.Thr37Arg LB/B rs879844008 - DRD1 P21728 VAR_014672 p.Arg50Ser LB/B rs5330 - DRD1 P21728 VAR_014673 p.Ser199Ala LB/B rs5331 - DRD1 P21728 VAR_064577 p.Lys81Arg LB/B - - DRD1 P21728 VAR_064578 p.Ser259Tyr LB/B rs74414188 - DRD2 P14416 VAR_003462 p.Ser311Cys LB/B rs1801028 - DRD2 P14416 VAR_014674 p.Pro310Ser LB/B rs1800496 - DRD2 P14416 VAR_017143 p.Val154Ile US rs104894220 - DRD2 P14416 VAR_064579 p.Lys327Glu LB/B rs71653614 - DRD3 P35462 VAR_003463 p.Gly9Ser LB/B rs6280 - DRD4 P21917 VAR_003464 p.Val194Gly LB/B rs1800443 - DRD5 P21918 VAR_003458 p.Ala269Val LB/B rs538877978 - DRD5 P21918 VAR_003459 p.Pro330Gln LB/B rs1800762 - DRD5 P21918 VAR_003460 p.Asn351Asp LB/B rs1577263526 - DRD5 P21918 VAR_003461 p.Ser453Cys LB/B rs776114395 - DRD5 P21918 VAR_011837 p.Leu88Arg LB/B rs6282 - DRD5 P21918 VAR_024254 p.Val238Ile LB/B rs2227852 - DRD5 P21918 VAR_029210 p.Cys62Ser LB/B rs2227840 - DRD5 P21918 VAR_029211 p.Gly110Glu LB/B rs2227849 - DRD5 P21918 VAR_029212 p.Phe207Val LB/B rs2227845 - DRD5 P21918 VAR_029213 p.Ser233Asn LB/B rs2227843 - DRD5 P21918 VAR_029215 p.Ala286Val LB/B rs2227850 - DRD5 P21918 VAR_061217 p.Thr297Pro LB/B rs2227851 - DRG2 P55039 VAR_067452 p.Thr194Met LB/B rs17855350 - DRG2 P55039 VAR_067453 p.Ser224Thr LB/B rs61256737 - DRICH1 Q6PGQ1 VAR_039014 p.Ile4Thr LB/B rs3827318 - DROSHA Q9NRR4 VAR_051866 p.Pro67Thr LB/B rs35342496 - DROSHA Q9NRR4 VAR_061778 p.Ser321Leu LB/B rs55656741 - DRP2 Q13474 VAR_033898 p.Val68Leu LB/B rs7066252 - DSC1 Q08554 VAR_055579 p.Val460Ile LB/B rs17800159 - DSC1 Q08554 VAR_055580 p.Cys848Phe LB/B rs985861 - DSC1 Q08554 VAR_061059 p.Ser93Phe LB/B rs35338395 - DSC2 Q02487 VAR_024388 p.Ile776Val LB/B rs1893963 - DSC2 Q02487 VAR_029480 p.Asn11Ser LB/B rs868333 - DSC2 Q02487 VAR_062391 p.Thr358Ile LB/B rs139399951 - DSC2 Q02487 VAR_062392 p.Arg798Gln LB/B rs61731921 - DSC2 Q02487 VAR_065687 p.Arg203Cys LP/P rs142331975 Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476] DSC2 Q02487 VAR_065688 p.Ile231Thr LP/P rs1390387214 Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476] DSC2 Q02487 VAR_065689 p.Thr275Met LP/P rs397517404 Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476] DSC2 Q02487 VAR_065690 p.Thr340Ala LP/P rs368299411 Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476] DSC2 Q02487 VAR_065691 p.Ala596Val LB/B rs148185335 - DSC2 Q02487 VAR_065692 p.Gln638His LB/B rs147742157 - DSC2 Q02487 VAR_078340 p.Val364Met LP/P - Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476] DSC2 Q02487 VAR_087290 p.Arg132Cys US rs727504578 Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476] DSC3 Q14574 VAR_048515 p.Ala28Asp LB/B rs2852003 - DSC3 Q14574 VAR_048516 p.Ser78Thr LB/B rs276937 - DSC3 Q14574 VAR_048517 p.Arg102Lys LB/B rs276938 - DSC3 Q14574 VAR_048518 p.Lys180Gln LB/B rs35296997 - DSC3 Q14574 VAR_048519 p.Arg199Trp LB/B rs276921 - DSC3 Q14574 VAR_048520 p.Asn239Ser LB/B rs35630063 - DSCAM O60469 VAR_020080 p.Asp232Glu LB/B rs2297270 - DSCAML1 Q8TD84 VAR_035512 p.Val659Ile US rs533175875 A colorectal cancer sample DSCAML1 Q8TD84 VAR_035513 p.Val1702Ile US rs147907435 A colorectal cancer sample DSCC1 Q9BVC3 VAR_038682 p.His376Arg LB/B rs1055130 - DSCR9 P59020 VAR_024340 p.Arg76Leu LB/B rs13864 - DSCR9 P59020 VAR_033849 p.Gly23Val LB/B rs1888464 - DSE Q9UL01 VAR_034481 p.Thr25Ile LB/B rs10485183 - DSE Q9UL01 VAR_053833 p.Pro34Leu LB/B rs35548455 - DSE Q9UL01 VAR_053834 p.Ile282Val LB/B rs34994230 - DSE Q9UL01 VAR_070911 p.Ser268Leu LP/P rs398122361 Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2) [MIM:615539] DSEL Q8IZU8 VAR_030833 p.Pro673Ser LB/B rs2279269 - DSEL Q8IZU8 VAR_030834 p.Tyr730Cys LB/B rs12953840 - DSEL Q8IZU8 VAR_036528 p.Lys1090Glu US - A colorectal cancer sample DSEL Q8IZU8 VAR_057759 p.Thr832Ser LB/B rs35479856 - DSG1 Q02413 VAR_020364 p.Tyr841Phe LB/B rs3752095 - DSG1 Q02413 VAR_024385 p.Asn493Thr LB/B rs8091003 - DSG1 Q02413 VAR_024386 p.Thr498Asn LB/B rs8091117 - DSG1 Q02413 VAR_055573 p.Thr395Ser LB/B rs16961655 - DSG1 Q02413 VAR_055574 p.Tyr528Ser LB/B rs16961689 - DSG1 Q02413 VAR_055575 p.Asp538Asn LB/B rs34302455 - DSG1 Q02413 VAR_055576 p.Met665Ile LB/B rs35360042 - DSG1 Q02413 VAR_055577 p.Leu821Gln LB/B rs16961692 - DSG1 Q02413 VAR_060248 p.Met11Val LB/B rs1426310 - DSG1 Q02413 VAR_060249 p.Asp828Asn LB/B rs3752094 - DSG2 Q14126 VAR_029365 p.Arg46Gln LP/P rs121913008 Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193] DSG2 Q14126 VAR_029366 p.Arg49His LP/P rs121913006 Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193] DSG2 Q14126 VAR_029367 p.Cys507Tyr LP/P rs121913009 Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193] DSG2 Q14126 VAR_029368 p.Gly812Cys LP/P rs121913010 Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193] DSG2 Q14126 VAR_048508 p.Tyr89Cys LB/B rs2230232 - DSG2 Q14126 VAR_048509 p.Ile293Val LB/B rs2230234 - DSG2 Q14126 VAR_048510 p.Val515Ile LB/B rs2230235 - DSG2 Q14126 VAR_048511 p.Arg773Lys LB/B rs2278792 - DSG2 Q14126 VAR_048512 p.Met863Leu LB/B rs16962093 - DSG2 Q14126 VAR_048513 p.Thr903Ile LB/B rs34065672 - DSG2 Q14126 VAR_062387 p.Val56Met LB/B rs121913013 - DSG2 Q14126 VAR_062388 p.Val158Gly LB/B rs191143292 - DSG2 Q14126 VAR_062389 p.Glu713Lys LB/B rs79241126 - DSG2 Q14126 VAR_062390 p.Val920Gly LB/B rs142841727 - DSG2 Q14126 VAR_065686 p.Thr335Ala LP/P rs191564916 Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193] DSG3 P32926 VAR_055578 p.Val509Met LB/B rs16961975 - DSG3 P32926 VAR_059178 p.Thr912Ala LB/B rs1380866 - DSG4 Q86SJ6 VAR_024387 p.Ile644Leu LB/B rs4799570 - DSG4 Q86SJ6 VAR_033700 p.Ile535Thr LB/B rs7229252 - DSG4 Q86SJ6 VAR_048514 p.Ala154Thr LB/B rs13381457 - DSP P15924 VAR_015402 p.Ser299Arg US rs121912992 Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450] DSP P15924 VAR_015569 p.Asn287Lys LP/P rs121912993 Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK) [MIM:605676] DSP P15924 VAR_015570 p.Arg2366Cys LP/P rs28931610 Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK) [MIM:605676] DSP P15924 VAR_018158 p.Gly2375Arg LP/P rs376923069 Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK) [MIM:605676] DSP P15924 VAR_020468 p.Tyr1512Cys LB/B rs2076299 - DSP P15924 VAR_023814 p.Arg1255Lys LP/P rs777407386 Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450] DSP P15924 VAR_023815 p.Arg1738Gln LB/B rs6929069 - DSP P15924 VAR_023816 p.Arg1775Ile US rs34738426 Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450] DSP P15924 VAR_033862 p.Ile305Phe LB/B rs17604693 - DSP P15924 VAR_065693 p.Ile445Val LP/P rs934142779 Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450] DSP P15924 VAR_065694 p.Ala1505Val LB/B rs375919492 - DSP P15924 VAR_065695 p.Asn1526Lys LB/B rs28763966 - DSP P15924 VAR_065696 p.Arg1537Cys LB/B rs28763967 - DSP P15924 VAR_065697 p.Glu1833Val LB/B rs78652302 - DSP P15924 VAR_072432 p.Thr564Ile LP/P rs606231295 Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) [MIM:615821] DSP P15924 VAR_072433 p.Ser597Leu LP/P rs606231294 Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) [MIM:615821] DSPP Q9NZW4 VAR_012280 p.Pro17Thr LP/P rs121912986 Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594] DSPP Q9NZW4 VAR_012281 p.Val18Phe LP/P rs121912987 Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594] DSPP Q9NZW4 VAR_012281 p.Val18Phe LP/P rs121912987 Dentinogenesis imperfecta, Shields type 3 (DGI3) [MIM:125500] DSPP Q9NZW4 VAR_030661 p.Arg68Trp LP/P rs36094464 Dentinogenesis imperfecta, Shields type 2 (DGI2) [MIM:125490] DSPP Q9NZW4 VAR_036861 p.Tyr6Asp LP/P rs121912988 Dentin dysplasia 2 (DTDP2) [MIM:125420] DSPP Q9NZW4 VAR_036862 p.Ala15Val LP/P rs121912989 Dentinogenesis imperfecta, Shields type 2 (DGI2) [MIM:125490] DSPP Q9NZW4 VAR_047551 p.Asp243Asn LB/B rs3750025 - DSPP Q9NZW4 VAR_054443 p.Pro17Ser LP/P rs121912986 Dentinogenesis imperfecta, Shields type 2 (DGI2) [MIM:125490] DSPP Q9NZW4 VAR_054443 p.Pro17Ser LP/P rs121912986 Dentinogenesis imperfecta, Shields type 3 (DGI3) [MIM:125500] DSPP Q9NZW4 VAR_070252 p.Pro17Leu LP/P - Dentinogenesis imperfecta, Shields type 3 (DGI3) [MIM:125500] DSPP Q9NZW4 VAR_070253 p.Val18Asp LP/P - Dentinogenesis imperfecta, Shields type 2 (DGI2) [MIM:125490] DST Q03001 VAR_063045 p.Asn1319Lys LB/B rs35014998 - DST Q03001 VAR_063046 p.Gln2332Arg LB/B rs16888053 - DST Q03001 VAR_063047 p.Gln3720Arg LB/B rs4712138 - DST Q03001 VAR_063048 p.Thr5138Ala LB/B rs4715631 - DSTN P60981 VAR_036459 p.Gly139Glu US - A colorectal cancer sample DSTYK Q6XUX3 VAR_057101 p.Leu432Val LB/B rs35845538 - DSTYK Q6XUX3 VAR_071324 p.Arg29Gln US rs200780796 Congenital anomalies of the kidney and urinary tract 1 (CAKUT1) [MIM:610805] DSTYK Q6XUX3 VAR_071325 p.Asp200Gly LP/P - Congenital anomalies of the kidney and urinary tract 1 (CAKUT1) [MIM:610805] DSTYK Q6XUX3 VAR_071326 p.Ser843Leu LP/P rs778586547 Congenital anomalies of the kidney and urinary tract 1 (CAKUT1) [MIM:610805] DTD2 Q96FN9 VAR_028802 p.Arg6Trp LB/B rs17097904 - DTHD1 Q6ZMT9 VAR_046339 p.Gly26Arg LB/B rs16992035 - DTHD1 Q6ZMT9 VAR_046340 p.Val179Asp LB/B rs1995319 - DTHD1 Q6ZMT9 VAR_046341 p.Arg552Cys LB/B rs12507599 - DTHD1 Q6ZMT9 VAR_046342 p.Arg662His LB/B rs9654132 - DTL Q9NZJ0 VAR_030353 p.Ala436Val LB/B rs3135474 - DTL Q9NZJ0 VAR_030354 p.Lys694Thr LB/B rs6540718 - DTL Q9NZJ0 VAR_062095 p.Ser425Asn LB/B rs35137676 - DTNA Q9Y4J8 VAR_026744 p.Pro121Leu US rs104894654 Left ventricular non-compaction 1 (LVNC1) [MIM:604169] DTNA Q9Y4J8 VAR_055320 p.Ala180Glu LB/B rs1048081 - DTNB O60941 VAR_069146 p.Pro97His LB/B rs17854576 - DTNB O60941 VAR_069147 p.Ile116Thr LB/B rs17854577 - DTNBP1 Q96EV8 VAR_029644 p.Pro272Ser LB/B rs17470454 - DTNBP1 Q96EV8 VAR_053069 p.Gly214Asp LB/B rs16876589 - DTWD1 Q8N5C7 VAR_036757 p.Leu9Pro LB/B rs11539522 - DTWD1 Q8N5C7 VAR_036758 p.Glu13Lys LB/B rs11539519 - DTWD1 Q8N5C7 VAR_036759 p.Ser25Pro LB/B rs11539521 - DTX2 Q86UW9 VAR_016920 p.Ala94Thr LB/B rs2462312 - DTX2 Q86UW9 VAR_016921 p.Gly384Glu LB/B rs1638152 - DTX2 Q86UW9 VAR_016922 p.Thr421Ala LB/B rs6979487 - DTX3L Q8TDB6 VAR_036098 p.Lys209Asn US - A breast cancer sample DTX3L Q8TDB6 VAR_048895 p.Arg425Lys LB/B rs2332285 - DTX3L Q8TDB6 VAR_048896 p.Lys668Met LB/B rs9868175 - DTYMK P23919 VAR_087114 p.Pro81Leu LP/P rs1267106442 Neurodegeneration, childhood-onset, with progressive microcephaly (CONPM) [MIM:619847] DTYMK P23919 VAR_087115 p.Ala99Thr US rs887888951 Neurodegeneration, childhood-onset, with progressive microcephaly (CONPM) [MIM:619847] DTYMK P23919 VAR_087116 p.Asp128Asn LP/P rs373875797 Neurodegeneration, childhood-onset, with progressive microcephaly (CONPM) [MIM:619847] DUOX1 Q9NRD9 VAR_025321 p.Cys1026Arg LB/B rs16939752 - DUOX1 Q9NRD9 VAR_025322 p.Leu1178Phe LB/B rs2458236 - DUOX1 Q9NRD9 VAR_049104 p.Ile962Thr LB/B rs16939743 - DUOX2 Q9NRD8 VAR_025323 p.Gln36His LP/P - Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200] DUOX2 Q9NRD8 VAR_025324 p.Pro138Leu LB/B rs2001616 - DUOX2 Q9NRD8 VAR_025325 p.Arg376Trp LP/P rs119472029 Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200] DUOX2 Q9NRD8 VAR_047075 p.Ser1067Leu LB/B rs269868 - DUOX2 Q9NRD8 VAR_061177 p.His678Arg LB/B rs57659670 - DUOX2 Q9NRD8 VAR_064619 p.Gly1518Ser LP/P rs368512412 Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200] DUOX2 Q9NRD8 VAR_075549 p.Arg1211Cys US rs374410986 - DUOX2 Q9NRD8 VAR_075550 p.Arg1492Cys US rs747720952 - DUOXA1 Q1HG43 VAR_029630 p.Ser313Gly LB/B rs16977686 - DUOXA1 Q1HG43 VAR_057753 p.Pro19Leu LB/B rs34734975 - DUOXA2 Q1HG44 VAR_047367 p.Arg100Gly LB/B rs2576090 - DUOXA2 Q1HG44 VAR_074025 p.Ile26Met US - Thyroid dyshormonogenesis 5 (TDH5) [MIM:274900] DUS3L Q96G46 VAR_027092 p.Arg185Gly LB/B rs2436487 - DUS3L Q96G46 VAR_027093 p.Asp609Asn LB/B rs12977803 - DUS4L O95620 VAR_027094 p.Arg230Gln LB/B rs6957510 - DUS4L O95620 VAR_048938 p.Thr178Ala LB/B rs6956789 - DUSP1 P28562 VAR_025201 p.Ala56Thr LB/B rs34013988 - DUSP1 P28562 VAR_025202 p.Tyr187His LB/B rs34471628 - DUSP12 Q9UNI6 VAR_033899 p.Ala51Glu LB/B rs35106830 - DUSP13A Q6B8I1 VAR_058495 p.Lys73Arg LB/B rs7912300 - DUSP13B Q9UII6 VAR_025431 p.Cys156Tyr LB/B rs3088142 - DUSP13B Q9UII6 VAR_057130 p.Arg62Gln LB/B rs16932004 - DUSP13B Q9UII6 VAR_057131 p.Arg190Gly LB/B rs16931996 - DUSP16 Q9BY84 VAR_051753 p.Thr23Met LB/B rs36049447 - DUSP16 Q9BY84 VAR_051754 p.Val366Met LB/B rs3809199 - DUSP19 Q8WTR2 VAR_051755 p.Ser216Arg LB/B rs16823987 - DUSP21 Q9H596 VAR_019423 p.Met186Thr LB/B rs1045031 - DUSP21 Q9H596 VAR_035644 p.Arg167Cys US rs1372839121 A colorectal cancer sample DUSP22 Q9NRW4 VAR_026912 p.Arg119His LB/B rs7768224 - DUSP23 Q9BVJ7 VAR_023199 p.Gly131Ser LB/B rs1129923 - DUSP23 Q9BVJ7 VAR_051756 p.Glu124Val LB/B rs11544443 - DUSP29 Q68J44 VAR_033376 p.Ser137Arg LB/B rs16931938 - DUSP29 Q68J44 VAR_051757 p.Asp66Asn LB/B rs11594934 - DUSP5 Q16690 VAR_020298 p.Glu154Asp LB/B rs2282238 - DUSP5 Q16690 VAR_047368 p.Pro322Leu LB/B rs35101549 - DUSP5 Q16690 VAR_059777 p.Ala220Thr LB/B rs1889566 - DUSP5 Q16690 VAR_059778 p.Ala220Val LB/B rs1889565 - DUSP6 Q16828 VAR_015113 p.Val114Leu LB/B rs2279574 - DUSP6 Q16828 VAR_051750 p.Ser144Ala LB/B rs770087 - DUSP6 Q16828 VAR_051751 p.Asn313Ile LB/B rs12828557 - DUSP6 Q16828 VAR_069943 p.Phe77Ile LP/P rs587776978 Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269] DUSP6 Q16828 VAR_069944 p.Ser182Phe LP/P rs139318648 Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269] DUSP6 Q16828 VAR_069945 p.Asn189Ser LP/P rs143946794 Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269] DUSP6 Q16828 VAR_069946 p.Thr346Met LP/P rs146089505 Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269] DUSP7 Q16829 VAR_051752 p.Ser235Asn LB/B rs34821455 - DUT P33316 VAR_022314 p.Pro100Ser LB/B rs28381104 - DUT P33316 VAR_087697 p.Tyr142Cys LP/P - Bone marrow failure and diabetes mellitus syndrome (BMFDMS) [MIM:620044] DUT P33316 VAR_087698 p.Arg173Trp US - Bone marrow failure and diabetes mellitus syndrome (BMFDMS) [MIM:620044] DUT P33316 VAR_087699 p.Tyr227Cys US rs771743286 Bone marrow failure and diabetes mellitus syndrome (BMFDMS) [MIM:620044] DUX5 Q96PT3 VAR_059347 p.Ala60Val LB/B rs10865697 - DUX5 Q96PT3 VAR_059348 p.Pro118Leu LB/B rs9755233 - DUX5 Q96PT3 VAR_059349 p.Gln119Pro LB/B rs12374009 - DUX5 Q96PT3 VAR_059350 p.Ser180Ala LB/B rs12632317 - DUX5 Q96PT3 VAR_059351 p.Ser180Thr LB/B rs12632317 - DVL2 O14641 VAR_064708 p.Ile282Thr US - - DVL3 Q92997 VAR_025519 p.Trp433Leu LB/B rs17853048 - DVL3 Q92997 VAR_036116 p.Arg216Thr US - A breast cancer sample DXO O77932 VAR_027492 p.Ser28Thr LB/B rs1056694 - DXO O77932 VAR_027493 p.Asp63Glu LB/B rs2746396 - DXO O77932 VAR_027494 p.His261Gln LB/B rs17207867 - DXO O77932 VAR_027495 p.Ala332Val LB/B rs12205138 - DYDC2 Q96IM9 VAR_048889 p.Gly143Ser LB/B rs1047951 - DYM Q7RTS9 VAR_022740 p.Glu87Lys LP/P rs120074164 Smith-McCort dysplasia 1 (SMC1) [MIM:607326] DYM Q7RTS9 VAR_054499 p.Asn469Tyr LP/P rs120074163 Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800] DYM Q7RTS9 VAR_065293 p.Cys542Arg LP/P rs120074165 Smith-McCort dysplasia 1 (SMC1) [MIM:607326] DYNAP Q8N1N2 VAR_033751 p.Val38Ala LB/B rs35428499 - DYNAP Q8N1N2 VAR_033752 p.Thr189Pro LB/B rs9947055 - DYNC1H1 Q14204 VAR_020889 p.Asp3902Asn LB/B rs17512818 - DYNC1H1 Q14204 VAR_020890 p.His4029Gln LB/B rs10129889 - DYNC1H1 Q14204 VAR_065085 p.His3822Pro LP/P rs387906739 Cortical dysplasia, complex, with other brain malformations 13 (CDCBM13) [MIM:614563] DYNC1H1 Q14204 VAR_066651 p.His306Arg LP/P rs387906738 Charcot-Marie-Tooth disease, axonal, 2O (CMT2O) [MIM:614228] DYNC1H1 Q14204 VAR_066651 p.His306Arg LP/P rs387906738 Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] DYNC1H1 Q14204 VAR_067820 p.Ile584Leu LP/P rs387906741 Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] DYNC1H1 Q14204 VAR_067821 p.Lys671Glu LP/P rs387906742 Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] DYNC1H1 Q14204 VAR_067822 p.Tyr970Cys LP/P rs387906743 Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] DYNC1H1 Q14204 VAR_067823 p.Glu1518Lys LP/P rs387906740 Cortical dysplasia, complex, with other brain malformations 13 (CDCBM13) [MIM:614563] DYNC1H1 Q14204 VAR_069437 p.Glu142Ala LB/B - - DYNC1H1 Q14204 VAR_069438 p.Val1250Leu LB/B rs369914512 - DYNC1H1 Q14204 VAR_069439 p.Val2247Met LB/B rs1064796963 - DYNC1H1 Q14204 VAR_069440 p.Arg4143Cys LB/B rs1316357429 - DYNC1H1 Q14204 VAR_069441 p.Ala4285Ser LB/B rs749486351 - DYNC1H1 Q14204 VAR_069442 p.Ala4421Thr LB/B rs376492799 - DYNC1H1 Q14204 VAR_069443 p.Ile4507Ser LB/B - - DYNC1H1 Q14204 VAR_069444 p.Ser4603Gly LB/B - - DYNC1H1 Q14204 VAR_070580 p.Lys129Ile LP/P rs1555407885 Cortical dysplasia, complex, with other brain malformations 13 (CDCBM13) [MIM:614563] DYNC1H1 Q14204 VAR_070582 p.Arg1567Gln LP/P rs797044901 Cortical dysplasia, complex, with other brain malformations 13 (CDCBM13) [MIM:614563] DYNC1H1 Q14204 VAR_070583 p.Arg1962Cys LP/P rs879253881 Cortical dysplasia, complex, with other brain malformations 13 (CDCBM13) [MIM:614563] DYNC1H1 Q14204 VAR_070584 p.Lys3241Thr LP/P rs1555411145 Cortical dysplasia, complex, with other brain malformations 13 (CDCBM13) [MIM:614563] DYNC1H1 Q14204 VAR_070585 p.Lys3336Asn LP/P rs397509410 Cortical dysplasia, complex, with other brain malformations 13 (CDCBM13) [MIM:614563] DYNC1H1 Q14204 VAR_070586 p.Arg3344Gln LP/P rs397509412 Cortical dysplasia, complex, with other brain malformations 13 (CDCBM13) [MIM:614563] DYNC1H1 Q14204 VAR_070587 p.Arg3384Gln LP/P rs397509411 Cortical dysplasia, complex, with other brain malformations 13 (CDCBM13) [MIM:614563] DYNC1H1 Q14204 VAR_072092 p.Gln1194Arg LP/P rs1555408964 Charcot-Marie-Tooth disease, axonal, 2O (CMT2O) [MIM:614228] DYNC1H1 Q14204 VAR_072093 p.Glu3048Lys LP/P rs1555410941 Charcot-Marie-Tooth disease, axonal, 2O (CMT2O) [MIM:614228] DYNC1H1 Q14204 VAR_073155 p.Glu94Lys US - - DYNC1H1 Q14204 VAR_073156 p.Arg264Leu LP/P rs713993043 Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] DYNC1H1 Q14204 VAR_073157 p.Arg598Cys LP/P rs587780564 Charcot-Marie-Tooth disease, axonal, 2O (CMT2O) [MIM:614228] DYNC1H1 Q14204 VAR_073157 p.Arg598Cys LP/P rs587780564 Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] DYNC1H1 Q14204 VAR_078241 p.Pro776Leu LP/P rs1057518083 Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] DYNC1H1 Q14204 VAR_078242 p.Gly1132Glu LP/P - Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] DYNC1I1 O14576 VAR_048905 p.Asn582Thr LB/B rs35077523 - DYNC1I1 O14576 VAR_064709 p.His373Leu US - - DYNC1I2 Q13409 VAR_082947 p.Tyr247Cys LP/P - Neurodevelopmental disorder with microcephaly and structural brain anomalies (NEDMIBA) [MIM:618492] DYNC1I2 Q13409 VAR_082949 p.Pro516Ala LP/P rs767705533 Neurodevelopmental disorder with microcephaly and structural brain anomalies (NEDMIBA) [MIM:618492] DYNC1LI1 Q9Y6G9 VAR_023325 p.Gln277Arg LB/B rs2303857 - DYNC1LI1 Q9Y6G9 VAR_061141 p.Met147Thr LB/B rs34181332 - DYNC2H1 Q8NCM8 VAR_038862 p.Thr302Pro LB/B rs12803695 - DYNC2H1 Q8NCM8 VAR_038863 p.Gln304Leu LB/B rs12146610 - DYNC2H1 Q8NCM8 VAR_038864 p.His341Tyr LB/B rs17301182 - DYNC2H1 Q8NCM8 VAR_038865 p.Arg456Gln LB/B rs17099969 - DYNC2H1 Q8NCM8 VAR_038866 p.Arg789Lys LB/B rs7358374 - DYNC2H1 Q8NCM8 VAR_038867 p.Arg1221Lys LB/B rs12794914 - DYNC2H1 Q8NCM8 VAR_038868 p.Thr1288Ala LB/B rs17301750 - DYNC2H1 Q8NCM8 VAR_038869 p.Lys1413Arg LB/B rs688906 - DYNC2H1 Q8NCM8 VAR_038870 p.Arg2871Gln LB/B rs589623 - DYNC2H1 Q8NCM8 VAR_038871 p.Ala3680Val LB/B rs10895391 - DYNC2H1 Q8NCM8 VAR_038872 p.Ser3976Asn LB/B rs4754914 - DYNC2H1 Q8NCM8 VAR_038873 p.Gln4139Pro LB/B rs1793493 - DYNC2H1 Q8NCM8 VAR_063242 p.Phe209Ile LP/P rs771511132 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_063243 p.Arg587Cys LP/P rs137853030 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_063244 p.Ile1240Thr LP/P rs137853028 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_063245 p.Gln1537Arg LP/P rs137853033 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_063246 p.Thr1987Ala LP/P rs137853035 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_063247 p.Met1991Leu LP/P rs137853025 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_063248 p.Arg2205His LP/P rs137853031 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_063249 p.Gly2461Val LP/P rs137853034 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_063250 p.Asp3015Gly LP/P rs137853027 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_063251 p.Leu3762Val LP/P - Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069591 p.Arg330Cys LP/P rs397514637 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069592 p.Arg338Gly LP/P rs1322077043 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069593 p.Arg430Cys LP/P rs374073337 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069594 p.Lys495Arg LP/P - Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069595 p.Leu871Pro LP/P - Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069596 p.Leu1228Ile US rs189806840 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069597 p.Met1379Val LP/P - Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069598 p.Arg1423Cys LP/P rs745870321 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069599 p.Gly1442Asp LP/P rs763571787 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069600 p.Met1991Lys LP/P rs1202784860 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069601 p.Met2227Val LP/P rs750249486 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069602 p.Ala2304Thr LP/P rs747348765 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069603 p.Asn2362Ser LP/P rs1862122773 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069604 p.Arg2481Gln LP/P rs781326398 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069605 p.Pro2496Ser LP/P rs397514636 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069606 p.Arg2532Trp LP/P rs1350329646 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069607 p.Val2555Met LP/P rs746195428 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069608 p.Tyr2573Cys LP/P rs1278825521 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069609 p.Ile2640Thr LP/P rs1265669915 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069610 p.Arg2662Gln LP/P rs397514635 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069611 p.Ile2819Met LP/P rs1060501431 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069612 p.Pro3381Leu LP/P rs368631447 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069613 p.Arg3806Cys LP/P rs754753584 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069614 p.Trp3847Gly LP/P rs752554582 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_069615 p.Gly3909Asp US rs201479015 - DYNC2H1 Q8NCM8 VAR_069616 p.Leu4232Arg LP/P rs1945272232 Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2I1 Q8WVS4 VAR_026841 p.Glu91Gly LB/B rs17837851 - DYNC2I1 Q8WVS4 VAR_026842 p.Gln273Arg LB/B rs2788478 - DYNC2I1 Q8WVS4 VAR_070197 p.Thr749Met LP/P rs587777065 Short-rib thoracic dysplasia 8 with or without polydactyly (SRTD8) [MIM:615503] DYNC2I2 Q96EX3 VAR_070962 p.Ala22Val LB/B rs201715229 - DYNC2I2 Q96EX3 VAR_070963 p.Cys148Phe LP/P - Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633] DYNC2I2 Q96EX3 VAR_070964 p.Arg206Cys LB/B rs148543026 - DYNC2I2 Q96EX3 VAR_070965 p.Ala341Val LP/P rs587777091 Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633] DYNC2I2 Q96EX3 VAR_070966 p.Thr354Met LP/P rs587777092 Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633] DYNC2I2 Q96EX3 VAR_070967 p.Pro390Leu LP/P - Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633] DYNC2I2 Q96EX3 VAR_070968 p.Gly393Ser LP/P rs587777096 Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633] DYNC2I2 Q96EX3 VAR_070969 p.Ser410Ile LP/P - Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633] DYNC2I2 Q96EX3 VAR_070970 p.Lys436Arg LP/P rs587777098 Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633] DYNC2I2 Q96EX3 VAR_070971 p.Arg447Gln LP/P rs587777094 Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633] DYNC2I2 Q96EX3 VAR_070972 p.Arg447Trp LP/P rs587777093 Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633] DYNC2I2 Q96EX3 VAR_083840 p.Arg182Trp LP/P rs555811074 Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633] DYNC2LI1 Q8TCX1 VAR_038874 p.Phe33Ser LB/B rs2288709 - DYNC2LI1 Q8TCX1 VAR_038875 p.Pro58Ser LB/B rs17854966 - DYNC2LI1 Q8TCX1 VAR_038876 p.Ile230Leu LB/B rs11556157 - DYNC2LI1 Q8TCX1 VAR_077814 p.Leu117Val LP/P rs201948500 Short-rib thoracic dysplasia 15 with polydactyly (SRTD15) [MIM:617088] DYNC2LI1 Q8TCX1 VAR_077815 p.Thr220Ile LP/P rs886037860 Short-rib thoracic dysplasia 15 with polydactyly (SRTD15) [MIM:617088] DYNLRB1 Q9NP97 VAR_049124 p.Ser13Arg LB/B rs1063616 - DYNLRB1 Q9NP97 VAR_049125 p.Ile71Phe LB/B rs10036 - DYNLRB2 Q8TF09 VAR_049126 p.His14Arg LB/B rs13332289 - DYNLT2 Q8IZS6 VAR_042499 p.Ile67Val LB/B rs116980543 - DYNLT2 Q8IZS6 VAR_042500 p.Arg88Ile LB/B rs2027063 - DYNLT2 Q8IZS6 VAR_042501 p.Val121Ala LB/B rs13194101 - DYNLT4 Q5JR98 VAR_087892 p.Pro47Leu LB/B - - DYNLT5 Q8N7M0 VAR_031852 p.Glu49Asp LB/B rs1060575 - DYNLT5 Q8N7M0 VAR_055700 p.Leu143Ile LB/B rs2133173 - DYRK1A Q13627 VAR_009395 p.Tyr415Phe LB/B - - DYRK1A Q13627 VAR_009396 p.Gln681His LB/B - - DYRK1A Q13627 VAR_040453 p.Ala679Pro LB/B rs55720916 - DYRK1B Q9Y463 VAR_040454 p.Leu28Pro LB/B rs34587974 - DYRK1B Q9Y463 VAR_040455 p.Arg102His LB/B rs55687541 - DYRK1B Q9Y463 VAR_040456 p.Ser234Gly LB/B rs35858874 - DYRK1B Q9Y463 VAR_040457 p.Gln275Arg US - A metastatic melanoma sample DYRK1B Q9Y463 VAR_071773 p.His90Pro LP/P rs587777380 Abdominal obesity-metabolic syndrome 3 (AOMS3) [MIM:615812] DYRK1B Q9Y463 VAR_071774 p.Arg102Cys LP/P rs367643250 Abdominal obesity-metabolic syndrome 3 (AOMS3) [MIM:615812] DYRK2 Q92630 VAR_040458 p.Ser98Gly LB/B rs35139851 - DYRK2 Q92630 VAR_040459 p.Pro198Leu US rs1384093596 A glioblastoma multiforme sample DYRK2 Q92630 VAR_040460 p.His245Asn LB/B rs34166200 - DYRK2 Q92630 VAR_040461 p.Asn295Ser LB/B rs56293072 - DYRK2 Q92630 VAR_040462 p.Arg451Gln LB/B rs35688869 - DYRK2 Q92630 VAR_040463 p.Phe455Tyr LB/B rs55774594 - DYRK3 O43781 VAR_040464 p.Met239Leu LB/B - - DYRK4 Q9NR20 VAR_010721 p.Val95Ile LB/B rs746486416 - DYRK4 Q9NR20 VAR_010722 p.Asn189Ser LB/B rs3741927 - DYRK4 Q9NR20 VAR_014948 p.Asp454Val LB/B rs1801016 - DYRK4 Q9NR20 VAR_033900 p.Ala61Thr LB/B rs12306130 - DYRK4 Q9NR20 VAR_040465 p.Ala70Ser LB/B - - DYSF O75923 VAR_012308 p.Pro791Arg LP/P rs121908956 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_012308 p.Pro791Arg LP/P rs121908956 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_012309 p.Ile1298Val LP/P rs121908954 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_012309 p.Ile1298Val LP/P rs121908954 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_012310 p.His1857Arg LP/P rs199601326 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_012311 p.Arg2042Cys LP/P rs121908955 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_012311 p.Arg2042Cys LP/P rs121908955 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_020308 p.Arg1242His LB/B rs2303603 - DYSF O75923 VAR_024853 p.Ala170Glu LB/B rs34999029 - DYSF O75923 VAR_024854 p.Leu189Val LB/B rs13407355 - DYSF O75923 VAR_024855 p.Arg253Trp LB/B rs149827237 - DYSF O75923 VAR_024856 p.Leu266Pro US - - DYSF O75923 VAR_024857 p.Gly299Glu LP/P rs1258728780 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_024858 p.Cys456Trp LP/P - Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_024859 p.Arg555Trp LP/P rs377735262 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_024859 p.Arg555Trp LP/P rs377735262 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_024860 p.Arg959Trp LP/P rs202218890 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_024860 p.Arg959Trp LP/P rs202218890 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_024861 p.Arg1022Gln LB/B rs34211915 - DYSF O75923 VAR_024862 p.Arg1038Gln LP/P rs150877497 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_024863 p.Arg1046His LP/P rs121908958 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_024865 p.Ile1208Met US rs148858485 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_024866 p.Leu1276Val US - - DYSF O75923 VAR_024867 p.Arg1331Leu LB/B rs61742872 - DYSF O75923 VAR_024868 p.Glu1335Lys LP/P rs758993965 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_024868 p.Glu1335Lys LP/P rs758993965 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_024869 p.Asn1351Ser LB/B rs139529811 - DYSF O75923 VAR_024870 p.Arg1693Gln LP/P rs779987458 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_024871 p.Glu1748Val US - - DYSF O75923 VAR_024872 p.Arg2000Gln LP/P rs115407852 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_035893 p.Ile1325Met US - A breast cancer sample DYSF O75923 VAR_035894 p.Leu1349Val US - A breast cancer sample DYSF O75923 VAR_049055 p.Ile834Val LB/B rs34671418 - DYSF O75923 VAR_049056 p.Ala1072Pro LB/B rs34660230 - DYSF O75923 VAR_057834 p.Trp52Arg LP/P rs1553508863 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057835 p.Val67Asp LP/P rs121908957 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057835 p.Val67Asp LP/P rs121908957 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057836 p.Ala84Val LB/B rs772008300 - DYSF O75923 VAR_057837 p.Gly155Arg LP/P rs200970855 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057838 p.Gly234Glu LP/P rs141497053 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057839 p.Ile284Thr LP/P rs1553522164 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057840 p.Gly299Arg LP/P rs121908963 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057841 p.Gly299Trp LP/P rs121908963 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057842 p.Gly335Ala LB/B - - DYSF O75923 VAR_057843 p.Ser340Arg LB/B rs766891289 - DYSF O75923 VAR_057844 p.Val374Leu LB/B rs150724610 - DYSF O75923 VAR_057846 p.Glu389Gln LP/P - Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057847 p.Asp390Asn LB/B rs886042389 - DYSF O75923 VAR_057848 p.Gly426Arg LP/P rs886042093 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057849 p.Gly426Val LP/P - Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057850 p.Gly519Arg LP/P rs121908962 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057851 p.Gly618Arg LP/P rs201049092 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057851 p.Gly618Arg LP/P rs201049092 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057852 p.Gly621Arg LP/P rs886043900 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057853 p.Asp625Tyr LP/P rs121908960 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057854 p.Pro731Arg LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057855 p.Arg819Gln LB/B rs748636047 - DYSF O75923 VAR_057856 p.Trp930Cys US rs727503910 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057857 p.Trp999Cys LP/P rs28937581 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057858 p.Pro1029Leu LP/P - Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057859 p.Arg1041Cys LP/P rs144598063 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057860 p.Leu1228Pro LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057861 p.Ile1325Val LB/B rs145401010 - DYSF O75923 VAR_057862 p.Leu1341Pro LP/P rs757917335 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057863 p.Cys1361Arg LP/P rs776472879 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057864 p.Tyr1505Cys LP/P rs757820496 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057865 p.Lys1526Thr LP/P rs76086153 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057866 p.Gly1543Asp LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057867 p.Arg1581His LB/B rs185596534 - DYSF O75923 VAR_057868 p.Thr1662Arg LP/P - Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057869 p.Cys1678Ser LB/B rs753279446 - DYSF O75923 VAR_057870 p.Gly1679Glu LP/P - Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057871 p.Arg1693Trp LP/P rs863225021 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057872 p.Glu1734Gly LP/P rs121908961 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057873 p.Arg1768Trp US rs746243052 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057874 p.Asp1837Asn LP/P rs398123794 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057875 p.Gly1842Asp LP/P rs1131692158 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057876 p.Leu1922Pro LP/P - Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057878 p.Cys1942Gly LP/P - Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057879 p.Gly1967Ser LB/B - - DYSF O75923 VAR_057880 p.Pro1970Ser LP/P rs1057521141 Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] DYSF O75923 VAR_057881 p.Pro2068Leu LP/P rs149732545 Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF O75923 VAR_061170 p.Arg1096His LB/B rs59915619 - DYTN A2CJ06 VAR_050960 p.Tyr241Cys LB/B rs16838593 - DYTN A2CJ06 VAR_050961 p.Gln474Lys LB/B rs2115591 - DZIP1 Q86YF9 VAR_019456 p.Pro736Ser LB/B rs11070136 - DZIP1 Q86YF9 VAR_052710 p.Thr172Met LB/B rs9561921 - DZIP1 Q86YF9 VAR_052711 p.Met664Leu LB/B rs34303958 - DZIP1 Q86YF9 VAR_085517 p.Ser24Arg LP/P - Mitral valve prolapse 3 (MVP3) [MIM:610840] DZIP1 Q86YF9 VAR_085518 p.Arg63Gln LP/P - Spermatogenic failure 47 (SPGF47) [MIM:619102] DZIP1L Q8IYY4 VAR_042756 p.Arg321Trp LB/B rs2724693 - DZIP1L Q8IYY4 VAR_042757 p.Thr545Ala LB/B rs446644 - DZIP1L Q8IYY4 VAR_042758 p.Ala551Val LB/B rs11917468 - DZIP1L Q8IYY4 VAR_042759 p.Arg593His LB/B rs374045 - DZIP1L Q8IYY4 VAR_042760 p.Lys645Glu LB/B rs442800 - DZIP1L Q8IYY4 VAR_078962 p.Ala90Val LP/P rs555349004 Polycystic kidney disease 5 (PKD5) [MIM:617610] DZIP1L Q8IYY4 VAR_078963 p.Gln91His LP/P rs1135402754 Polycystic kidney disease 5 (PKD5) [MIM:617610] E2F1 Q01094 VAR_013607 p.Arg252His LB/B rs3213172 - E2F1 Q01094 VAR_013608 p.Val276Met LB/B rs3213173 - E2F1 Q01094 VAR_013609 p.Thr311Asn LB/B rs3213174 - E2F1 Q01094 VAR_013610 p.Gly393Ser LB/B rs3213176 - E2F1 Q01094 VAR_048907 p.Gly200Ser LB/B rs35385772 - E2F2 Q14209 VAR_018990 p.Gly205Arg LB/B rs2229297 - E2F2 Q14209 VAR_018991 p.Gln226His LB/B rs2075995 - E2F3 O00716 VAR_014341 p.Gly344Arg LB/B rs4134973 - E2F3 O00716 VAR_014342 p.Asp389Asn LB/B rs4134982 - E2F4 Q16254 VAR_014936 p.Thr293Pro LB/B rs1801013 - E2F5 Q15329 VAR_014348 p.Gly18Ala LB/B rs4150841 - E2F7 Q96AV8 VAR_034732 p.Phe72Leu LB/B rs310791 - E2F7 Q96AV8 VAR_034733 p.Met626Val LB/B rs3829295 - E2F7 Q96AV8 VAR_034734 p.His854Gln LB/B rs310831 - E2F8 A0AVK6 VAR_034735 p.Ile674Val LB/B rs793274 - E4F1 Q66K89 VAR_060270 p.Arg167His LB/B rs26839 - E4F1 Q66K89 VAR_060271 p.Val355Ile LB/B rs59784157 - EAPP Q56P03 VAR_031915 p.Gln168Glu LB/B rs17352411 - EARS2 Q5JPH6 VAR_028840 p.Ser457Gly LB/B rs6497671 - EARS2 Q5JPH6 VAR_069235 p.Arg55His LP/P rs770862902 Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] EARS2 Q5JPH6 VAR_069236 p.Lys65Glu LP/P rs397514595 Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] EARS2 Q5JPH6 VAR_069237 p.Glu96Lys LP/P rs397514593 Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] EARS2 Q5JPH6 VAR_069238 p.Arg107His LP/P rs1021330566 Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] EARS2 Q5JPH6 VAR_069239 p.Arg108Trp LP/P rs376103091 Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] EARS2 Q5JPH6 VAR_069240 p.Gly110Ser LP/P rs201842633 Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] EARS2 Q5JPH6 VAR_069241 p.Cys167Tyr LP/P rs397514594 Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] EARS2 Q5JPH6 VAR_069242 p.Arg168Gly LP/P rs397514591 Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] EARS2 Q5JPH6 VAR_069243 p.Gly204Ser LP/P rs397514592 Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] EARS2 Q5JPH6 VAR_069244 p.Gly224Ser LP/P rs141129877 Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] EARS2 Q5JPH6 VAR_069245 p.Gly317Cys LP/P rs746838793 Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] EARS2 Q5JPH6 VAR_069247 p.Arg516Gln LP/P rs201727231 Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] EARS2 Q5JPH6 VAR_076183 p.Arg107Cys LP/P rs1355685453 Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] EARS2 Q5JPH6 VAR_076184 p.Arg489Gln LP/P rs757965573 Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] EBF2 Q9HAK2 VAR_048754 p.Gly559Ser LB/B rs17054477 - EBF3 Q9H4W6 VAR_078033 p.Asn66Asp LP/P rs1057519518 Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] EBF3 Q9H4W6 VAR_078034 p.Tyr141Cys LP/P rs1057519519 Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] EBF3 Q9H4W6 VAR_078036 p.Arg163Leu LP/P rs1057519389 Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] EBF3 Q9H4W6 VAR_078037 p.Arg163Pro LP/P rs1057519389 Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] EBF3 Q9H4W6 VAR_078038 p.Arg163Gln LP/P rs1057519389 Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] EBF3 Q9H4W6 VAR_078039 p.Gly171Asp LP/P rs1057519437 Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] EBF3 Q9H4W6 VAR_078040 p.Pro177Leu LP/P rs869312668 Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] EBF3 Q9H4W6 VAR_078041 p.Lys193Asn LP/P rs1057519520 Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] EBF3 Q9H4W6 VAR_078042 p.Arg209Trp LP/P rs779003155 Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] EBI3 Q14213 VAR_024342 p.Val201Ile LB/B rs4740 - EBI3 Q14213 VAR_049171 p.Ala174Val LB/B rs1803524 - EBNA1BP2 Q99848 VAR_024437 p.Arg223His LB/B rs7163 - EBP Q15125 VAR_012105 p.Glu80Lys LP/P rs104894800 Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960] EBP Q15125 VAR_012106 p.Arg110Gln LP/P rs1602090481 Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960] EBP Q15125 VAR_012107 p.Arg147Gly LP/P - Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960] EBP Q15125 VAR_012108 p.Arg147His LP/P rs28935174 Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960] EBP Q15125 VAR_074633 p.Leu18Pro LP/P rs104894795 MEND syndrome (MEND) [MIM:300960] EBP Q15125 VAR_074634 p.Trp47Cys LP/P rs587783599 MEND syndrome (MEND) [MIM:300960] EBP Q15125 VAR_074635 p.Trp47Arg LP/P rs878854359 MEND syndrome (MEND) [MIM:300960] EBP Q15125 VAR_074636 p.Ile75Asn LP/P rs797045153 MEND syndrome (MEND) [MIM:300960] EBP Q15125 VAR_074637 p.Glu103Lys LP/P - Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960] ECD O95905 VAR_012191 p.Arg281Gly LB/B rs151023501 - ECD O95905 VAR_051970 p.Arg45Gln LB/B rs3812619 - ECD O95905 VAR_051971 p.Glu452Gln LB/B rs3736518 - ECD O95905 VAR_051972 p.Asn501Ser LB/B rs36152134 - ECD O95905 VAR_051973 p.Asp634Gly LB/B rs2271904 - ECE1 P42892 VAR_011972 p.Thr341Ile LB/B rs1076669 - ECE1 P42892 VAR_026747 p.Arg754Cys LP/P rs3026906 Hirschsprung disease, cardiac defects, and autonomic dysfunction (HCAD) [MIM:613870] ECE2 P0DPD6 VAR_037085 p.Arg499Gln LB/B rs35875049 - ECEL1 O95672 VAR_012813 p.His10Gln LB/B rs2741281 - ECEL1 O95672 VAR_012814 p.His328Tyr LB/B rs1529874 - ECEL1 O95672 VAR_069747 p.Arg418Ser LP/P rs587776919 Arthrogryposis, distal, 5D (DA5D) [MIM:615065] ECEL1 O95672 VAR_069993 p.Arg404Cys LP/P rs532757890 Arthrogryposis, distal, 5D (DA5D) [MIM:615065] ECEL1 O95672 VAR_069994 p.Gly607Ser LP/P - Arthrogryposis, distal, 5D (DA5D) [MIM:615065] ECEL1 O95672 VAR_069995 p.Cys760Arg LP/P rs587777129 Arthrogryposis, distal, 5D (DA5D) [MIM:615065] ECH1 Q13011 VAR_014927 p.Glu41Ala LB/B rs9419 - ECH1 Q13011 VAR_033913 p.Gly217Arg LB/B rs2229259 - ECHDC2 Q86YB7 VAR_036951 p.Asn119Asp LB/B rs17854314 - ECHDC3 Q96DC8 VAR_043126 p.Ala69Thr LB/B rs4750090 - ECHDC3 Q96DC8 VAR_043127 p.Ala151Thr LB/B rs7910140 - ECHDC3 Q96DC8 VAR_043128 p.Asp162Asn LB/B rs35986488 - ECHS1 P30084 VAR_022273 p.Val11Ala LB/B rs10466126 - ECHS1 P30084 VAR_022274 p.Thr75Ile LB/B rs1049951 - ECHS1 P30084 VAR_073373 p.Ala2Val LP/P rs587776498 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] ECHS1 P30084 VAR_073374 p.Ala158Asp LP/P rs786204001 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] ECHS1 P30084 VAR_076185 p.Phe33Ser LP/P - Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] ECHS1 P30084 VAR_076186 p.Arg54His LP/P rs375266808 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] ECHS1 P30084 VAR_076187 p.Asn59Ser LP/P rs201865375 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] ECHS1 P30084 VAR_076188 p.Ile66Thr LP/P rs371063211 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] ECHS1 P30084 VAR_076189 p.Glu77Gln LP/P rs1426014295 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] ECHS1 P30084 VAR_076190 p.Gly90Arg US rs1085307550 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] ECHS1 P30084 VAR_076191 p.Ala132Thr LP/P rs770931871 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] ECHS1 P30084 VAR_076192 p.Asp150Gly LP/P - Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] ECHS1 P30084 VAR_076193 p.Gln159Arg LP/P rs375032130 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] ECHS1 P30084 VAR_076194 p.Gly195Ser LP/P rs761989177 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] ECHS1 P30084 VAR_076195 p.Cys225Arg LP/P rs769429279 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] ECHS1 P30084 VAR_076196 p.Lys273Glu LP/P rs565090080 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] ECHS1 P30084 VAR_076479 p.Ala138Val LP/P rs864309656 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] ECHS1 P30084 VAR_076480 p.Glu281Gly US - Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277] ECI2 O75521 VAR_058493 p.Met47Ile LB/B rs3177253 - ECI2 O75521 VAR_058494 p.Ala344Val LB/B rs7166 - ECM1 Q16610 VAR_014761 p.Gly415Ser LB/B rs13294 - ECM1 Q16610 VAR_014762 p.Gly528Arg LB/B rs1050901 - ECM1 Q16610 VAR_014763 p.Ser535Phe LB/B rs1050904 - ECM1 Q16610 VAR_018690 p.Thr130Met LB/B rs3737240 - ECM1 Q16610 VAR_018691 p.Phe167Ile LP/P rs121909116 Lipoid proteinosis (LiP) [MIM:247100] ECM2 O94769 VAR_024646 p.Gln56Pro LB/B rs10120210 - ECM2 O94769 VAR_052010 p.Thr109Ser LB/B rs35496743 - ECM2 O94769 VAR_052011 p.Arg204Gln LB/B rs34758505 - ECPAS Q5VYK3 VAR_055702 p.Thr472Ser LB/B rs16916091 - ECRG4 Q9H1Z8 VAR_050962 p.Ala52Thr LB/B rs10187689 - ECSIT Q9BQ95 VAR_032907 p.Arg278Cys LB/B rs34803265 - ECSIT Q9BQ95 VAR_032908 p.Gly406Arg LB/B rs2302971 - ECT2 Q9H8V3 VAR_035975 p.Thr833Pro US - A breast cancer sample ECT2 Q9H8V3 VAR_047064 p.Ser15Thr LB/B rs34703432 - ECT2L Q008S8 VAR_043482 p.Glu527Lys LB/B rs1529151 - ECT2L Q008S8 VAR_043483 p.Ala594Thr LB/B rs11968285 - ECT2L Q008S8 VAR_051984 p.Gln483His LB/B rs12198781 - EDA Q92838 VAR_005179 p.Tyr61His LP/P rs132630308 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005180 p.Glu63Lys LP/P rs132630311 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005181 p.Arg69Leu LP/P rs132630309 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005182 p.Arg155Cys LP/P rs132630312 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005183 p.Arg156Cys LP/P rs132630313 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005184 p.Arg156His LP/P rs132630314 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005185 p.Pro209Leu LP/P rs132630315 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005186 p.Gly224Ala LP/P rs132630316 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005187 p.His252Leu LP/P rs879255552 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005188 p.Gly299Ser LP/P rs397516679 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005189 p.Ala349Thr LP/P rs132630317 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005190 p.Ala356Asp LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005191 p.Arg357Pro LP/P rs61747506 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_010611 p.His54Tyr LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_010612 p.Leu55Arg LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_010613 p.Gly291Arg LP/P rs397516677 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_010614 p.Gly291Trp LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_010615 p.Asp298His LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_011077 p.Gly255Cys LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_011078 p.Gly255Asp LP/P rs1064793105 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_011079 p.Trp274Gly LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_011080 p.Cys332Tyr LP/P rs1602624745 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_013484 p.Cys60Arg LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_013485 p.His252Tyr LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_013486 p.Gly269Val LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_013487 p.Phe302Ser LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_013488 p.Thr378Met LP/P rs1569407346 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_029534 p.Arg65Gly LP/P rs132630319 Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500] EDA Q92838 VAR_036590 p.Pro118Leu US - A colorectal cancer sample EDA Q92838 VAR_054454 p.Arg153Cys LP/P rs397516662 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054455 p.Arg156Ser LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054456 p.Lys158Asn LP/P rs727504649 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054460 p.Gly189Glu LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054462 p.Gly198Ala LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054463 p.Gly207Arg LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054464 p.Gly218Asp LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054466 p.Asp298Tyr LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054467 p.Gln306His LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054468 p.Val307Gly LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054469 p.Tyr320Cys LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054470 p.Tyr343Cys LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054471 p.Gln358Glu LP/P rs132630320 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054472 p.Ile360Asn LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054473 p.Asn372Asp LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054474 p.Met373Ile LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054475 p.Ser374Arg LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054476 p.Thr378Pro LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064858 p.Arg156Gly LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064860 p.Gly207Val LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064861 p.Thr211Arg LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064862 p.Leu266Arg LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064863 p.Trp274Arg LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064864 p.Leu293Pro LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064865 p.Leu296Val LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064866 p.Gly299Asp LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064867 p.Val323Gly LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064868 p.Thr338Met LP/P rs132630321 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064868 p.Thr338Met LP/P rs132630321 Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500] EDA Q92838 VAR_064869 p.Cys346Tyr LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064870 p.Ala356Val LP/P rs876657639 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064871 p.Gly381Arg LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_067250 p.Leu354Pro LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_067319 p.Ser319Arg LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_071454 p.Ala259Glu LP/P rs879255611 Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500] EDA Q92838 VAR_071455 p.Ile260Ser LP/P - Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500] EDA Q92838 VAR_071456 p.Arg289Cys LP/P rs879255551 Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500] EDA Q92838 VAR_071457 p.Arg289Leu LP/P - Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500] EDA Q92838 VAR_071458 p.Arg334His LP/P rs142948132 Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500] EDA Q92838 VAR_071459 p.Phe379Val LP/P - Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500] EDA Q92838 VAR_075310 p.Leu51Gln US - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_075311 p.Ser125Cys US - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_075312 p.Gln132Pro US - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_075313 p.Arg153His US rs140642493 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_075316 p.Tyr304His US - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_075317 p.Asp316Glu US - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_075318 p.Cys332Phe US - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_075319 p.Gly350Asp US - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_075320 p.Gln358His US - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_075321 p.Gly381Val US - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_077561 p.Gly221Asp US - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_085684 p.Arg289Pro LP/P rs876657641 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_085685 p.Ser290Cys LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_085686 p.Phe379Ser LP/P - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA2R Q9HAV5 VAR_044511 p.Arg57Lys LB/B rs1385699 - EDA2R Q9HAV5 VAR_044512 p.Thr129Ala LB/B rs1385698 - EDAR Q9UNE0 VAR_013448 p.Cys87Arg LP/P rs121908451 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_013449 p.Arg89His LP/P rs121908450 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_013450 p.Arg420Gln LP/P rs121908453 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A) [MIM:129490] EDAR Q9UNE0 VAR_013450 p.Arg420Gln LP/P rs121908453 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_020011 p.Val370Ala LB/B rs3827760 - EDAR Q9UNE0 VAR_054444 p.Cys47Tyr LP/P rs778903951 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054445 p.Asp110Ala LP/P rs121908455 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054446 p.Cys148Arg LP/P - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054447 p.Arg375His LP/P rs121908454 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054448 p.Leu377Phe LP/P - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054449 p.Gly382Ser LP/P rs747806672 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054450 p.Thr403Met LP/P rs1696610832 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054451 p.Thr413Pro LP/P - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054452 p.Ile418Thr LP/P - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054453 p.Trp434Cys LP/P rs528478080 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_064830 p.Arg98Gln LP/P rs144473052 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_064831 p.Arg358Gln LP/P rs886039564 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_064833 p.Ile408Phe LP/P - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_064834 p.Trp434Arg LP/P rs773885029 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_077562 p.Val370Leu LB/B rs1267372612 - EDARADD Q8WWZ3 VAR_013482 p.Glu152Lys LP/P rs74315309 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD11B) [MIM:614941] EDARADD Q8WWZ3 VAR_050963 p.Met9Ile LB/B rs966365 - EDARADD Q8WWZ3 VAR_054509 p.Ser103Phe LB/B rs114632254 - EDARADD Q8WWZ3 VAR_054510 p.Leu122Arg LP/P rs121908116 Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A) [MIM:614940] EDARADD Q8WWZ3 VAR_064835 p.Asp114Tyr LP/P - Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A) [MIM:614940] EDC3 Q96F86 VAR_073963 p.Phe54Ser LP/P rs1057517676 Intellectual developmental disorder, autosomal recessive 50 (MRT50) [MIM:616460] EDDM3A Q14507 VAR_050968 p.Gly62Cys LB/B rs34552133 - EDDM3B P56851 VAR_038946 p.Leu5Val LB/B rs3827906 - EDEM2 Q9BV94 VAR_012165 p.Ala456Thr LB/B rs3746429 - EDEM2 Q9BV94 VAR_055842 p.Arg510Gln LB/B rs6060248 - EDEM2 Q9BV94 VAR_055843 p.Leu556Phe LB/B rs1052056 - EDEM3 Q9BZQ6 VAR_059306 p.Ile820Ser LB/B rs9425343 - EDEM3 Q9BZQ6 VAR_086113 p.Asp61Gly US rs777353823 Congenital disorder of glycosylation 2V (CDG2V) [MIM:619493] EDEM3 Q9BZQ6 VAR_086115 p.Asp456Asn US - Congenital disorder of glycosylation 2V (CDG2V) [MIM:619493] EDN1 P05305 VAR_014188 p.Lys198Asn LB/B rs5370 - EDN1 P05305 VAR_048933 p.Val186Ile LB/B rs6413478 - EDN1 P05305 VAR_071152 p.Val64Asp LP/P rs587777233 Question mark ears, isolated (QME) [MIM:612798] EDN1 P05305 VAR_071153 p.Pro77His LP/P rs587777232 Auriculocondylar syndrome 3 (ARCND3) [MIM:615706] EDN1 P05305 VAR_071154 p.Lys91Glu LP/P rs587777231 Auriculocondylar syndrome 3 (ARCND3) [MIM:615706] EDN2 P20800 VAR_018817 p.Pro168Leu LB/B rs11572371 - EDN2 P20800 VAR_033914 p.Phe131Leu LB/B rs5798 - EDN3 P14138 VAR_002353 p.Cys159Phe LP/P rs74315384 Waardenburg syndrome 4B (WS4B) [MIM:613265] EDN3 P14138 VAR_009078 p.Ala17Thr LB/B rs11570255 - EDN3 P14138 VAR_009079 p.Ala224Thr LB/B rs11570351 - EDN3 P14138 VAR_015238 p.Tyr127Cys LP/P rs752400458 Waardenburg syndrome 4B (WS4B) [MIM:613265] EDNRA P25101 VAR_035758 p.Ile136Leu US - A breast cancer sample EDNRA P25101 VAR_073788 p.Tyr129Phe LP/P rs786205230 Mandibulofacial dysostosis with alopecia (MFDA) [MIM:616367] EDNRA P25101 VAR_073789 p.Glu303Lys LP/P rs876657388 Mandibulofacial dysostosis with alopecia (MFDA) [MIM:616367] EDNRB P24530 VAR_003469 p.Gly57Ser LB/B rs1801710 - EDNRB P24530 VAR_003470 p.Ala183Gly LP/P rs104894388 Waardenburg syndrome 4A (WS4A) [MIM:277580] EDNRB P24530 VAR_003471 p.Trp276Cys LP/P rs104894387 Hirschsprung disease 2 (HSCR2) [MIM:600155] EDNRB P24530 VAR_003472 p.Ser305Asn LB/B rs5352 - EDNRB P24530 VAR_003473 p.Arg319Trp LP/P rs200363611 Hirschsprung disease 2 (HSCR2) [MIM:600155] EDNRB P24530 VAR_003474 p.Met374Ile LP/P - Hirschsprung disease 2 (HSCR2) [MIM:600155] EDNRB P24530 VAR_003475 p.Pro383Leu LP/P - Hirschsprung disease 2 (HSCR2) [MIM:600155] EDNRB P24530 VAR_014675 p.Leu7Gln LB/B rs5345 - EDNRB P24530 VAR_014676 p.Leu17Phe LB/B rs5346 - EDNRB P24530 VAR_014677 p.Phe112Val LB/B rs5347 - EDNRB P24530 VAR_014678 p.Thr244Met LB/B rs5350 - EDNRB P24530 VAR_015294 p.Phe292Leu LP/P - Waardenburg syndrome 4A (WS4A) [MIM:277580] EDNRB P24530 VAR_019285 p.Pro5Thr LB/B rs12720160 - EDNRB P24530 VAR_024255 p.Arg76Met LB/B rs2228271 - EDNRB P24530 VAR_078312 p.Leu17Pro US - - EDNRB P24530 VAR_078313 p.Asn137Tyr US - - EDNRB P24530 VAR_078314 p.Pro156Arg US - - EDRF1 Q3B7T1 VAR_035862 p.Asn45Ser US rs143528650 A colorectal cancer sample EDRF1 Q3B7T1 VAR_035863 p.Leu95Phe US - A colorectal cancer sample EEA1 Q15075 VAR_052980 p.Lys810Gln LB/B rs10745623 - EED O75530 VAR_078316 p.Arg236Thr LP/P rs1131692176 Cohen-Gibson syndrome (COGIS) [MIM:617561] EED O75530 VAR_078317 p.Arg302Ser LP/P rs1131692173 Cohen-Gibson syndrome (COGIS) [MIM:617561] EED O75530 VAR_079255 p.Asn194Ser LP/P - Cohen-Gibson syndrome (COGIS) [MIM:617561] EED O75530 VAR_079256 p.Arg236Gly LP/P - Cohen-Gibson syndrome (COGIS) [MIM:617561] EED O75530 VAR_079257 p.His258Tyr LP/P rs1131692174 Cohen-Gibson syndrome (COGIS) [MIM:617561] EED O75530 VAR_079258 p.Arg302Gly LP/P rs1131692175 Cohen-Gibson syndrome (COGIS) [MIM:617561] EEF1A2 Q05639 VAR_069395 p.Gly70Ser LP/P rs587777162 Developmental and epileptic encephalopathy 33 (DEE33) [MIM:616409] EEF1A2 Q05639 VAR_073807 p.Glu122Lys LP/P rs786205866 Intellectual developmental disorder, autosomal dominant 38 (MRD38) [MIM:616393] EEF1A2 Q05639 VAR_073808 p.Asp252His LP/P rs786205865 Intellectual developmental disorder, autosomal dominant 38 (MRD38) [MIM:616393] EEF1A2 Q05639 VAR_079033 p.Ala92Thr US rs2082414178 - EEF1AKMT1 Q8WVE0 VAR_037216 p.Thr193Asn LB/B rs11549810 - EEF1AKMT2 Q5JPI9 VAR_050295 p.Arg67Gln LB/B rs4347339 - EEF1AKMT3 Q96AZ1 VAR_032869 p.Ser28Leu LB/B rs34913183 - EEF1AKMT4 P0DPD7 VAR_047752 p.His101Tyr LB/B rs7633387 - EEF2 P13639 VAR_070792 p.Pro596His LP/P rs587777052 Spinocerebellar ataxia 26 (SCA26) [MIM:609306] EEF2K O00418 VAR_033915 p.His23Arg LB/B rs9935059 - EEF2K O00418 VAR_033916 p.Pro75Ala LB/B rs17841292 - EEF2K O00418 VAR_041534 p.Thr291Met US rs147978363 A colorectal adenocarcinoma sample EEF2K O00418 VAR_041535 p.Arg433Trp LB/B rs56137739 - EEF2K O00418 VAR_041536 p.Asp609His LB/B - - EEF2K O00418 VAR_058405 p.Gln361Arg LB/B rs4783453 - EEF2KMT Q96G04 VAR_033854 p.Ser123Cys LB/B rs9673733 - EEF2KMT Q96G04 VAR_060160 p.Arg270Trp LB/B rs3204207 - EEF2KMT Q96G04 VAR_067704 p.Val230Ile LB/B rs148557961 - EEF2KMT Q96G04 VAR_067705 p.His272Asp LB/B rs12928528 - EEF2KMT Q96G04 VAR_067706 p.Thr329Ile LB/B rs760584474 - EEFSEC P57772 VAR_055712 p.Ala435Val LB/B rs34326479 - EEPD1 Q7L9B9 VAR_056867 p.Ala358Ser LB/B rs3815682 - EEPD1 Q7L9B9 VAR_056868 p.Pro416Ser LB/B rs196594 - EEPD1 Q7L9B9 VAR_060374 p.Ser343Asn LB/B rs196586 - EFCAB11 Q9BUY7 VAR_032129 p.Ala15Val LB/B rs35435801 - EFCAB11 Q9BUY7 VAR_032130 p.Asp31Gly LB/B rs34486581 - EFCAB11 Q9BUY7 VAR_032131 p.Thr45Ala LB/B rs34911716 - EFCAB12 Q6NXP0 VAR_033697 p.Glu66Gly LB/B rs3774787 - EFCAB12 Q6NXP0 VAR_048667 p.Arg215Gly LB/B rs6790768 - EFCAB12 Q6NXP0 VAR_048668 p.Pro541Ser LB/B rs12637267 - EFCAB12 Q6NXP0 VAR_061089 p.Pro36Leu LB/B rs58932597 - EFCAB12 Q6NXP0 VAR_061090 p.His280Arg LB/B rs9836111 - EFCAB13 Q8IY85 VAR_031228 p.Val312Ile LB/B rs4968318 - EFCAB13 Q8IY85 VAR_031229 p.Met617Val LB/B rs17855599 - EFCAB13 Q8IY85 VAR_035465 p.Gln286His US - A breast cancer sample EFCAB13 Q8IY85 VAR_061091 p.Ile279Val LB/B rs55853213 - EFCAB14 O75071 VAR_048669 p.Leu337Pro LB/B rs6665021 - EFCAB14 O75071 VAR_074176 p.Pro239Ser LB/B - - EFCAB3 Q8N7B9 VAR_028377 p.Gly341Arg LB/B rs12602985 - EFCAB3 Q8N7B9 VAR_028378 p.Met364Ile LB/B rs1056642 - EFCAB3 Q8N7B9 VAR_028379 p.Ser370Ala LB/B rs1056643 - EFCAB5 A4FU69 VAR_038343 p.Leu237Val LB/B rs9897794 - EFCAB5 A4FU69 VAR_038344 p.Ile278Lys LB/B rs4795524 - EFCAB5 A4FU69 VAR_038345 p.Arg561Ser LB/B rs9900546 - EFCAB5 A4FU69 VAR_048644 p.Ala1145Asp LB/B rs9894896 - EFCAB5 A4FU69 VAR_048645 p.Val1252Ala LB/B rs4499292 - EFCAB5 A4FU69 VAR_048646 p.Arg1274Thr LB/B rs35724168 - EFCAB6 Q5THR3 VAR_048648 p.Val166Ala LB/B rs16990981 - EFCAB6 Q5THR3 VAR_048649 p.Arg199Gly LB/B rs3747203 - EFCAB6 Q5THR3 VAR_048650 p.Thr351Ala LB/B rs5764214 - EFCAB6 Q5THR3 VAR_048651 p.Ser384Ala LB/B rs6006438 - EFCAB6 Q5THR3 VAR_048652 p.His400Tyr LB/B rs137794 - EFCAB6 Q5THR3 VAR_048653 p.Thr680Ala LB/B rs137731 - EFCAB6 Q5THR3 VAR_048654 p.Asp780Asn LB/B rs12159591 - EFCAB6 Q5THR3 VAR_048655 p.Arg800Trp LB/B rs6006514 - EFCAB6 Q5THR3 VAR_048656 p.Ala1059Val LB/B rs9614382 - EFCAB7 A8K855 VAR_038493 p.Phe27Ile LB/B rs17125106 - EFCAB7 A8K855 VAR_038494 p.Ser186Gly LB/B rs9436246 - EFCAB7 A8K855 VAR_038495 p.Thr248Ile LB/B rs6693255 - EFCAB7 A8K855 VAR_038496 p.Met262Thr LB/B rs6657480 - EFCAB7 A8K855 VAR_038497 p.Arg375Lys LB/B rs2273367 - EFCC1 Q9HA90 VAR_050753 p.Arg528Gln LB/B rs3732430 - EFEMP1 Q12805 VAR_009512 p.Ile220Phe LB/B rs748965004 - EFEMP1 Q12805 VAR_009513 p.Arg345Trp LP/P rs121434491 Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600] EFEMP2 O95967 VAR_027019 p.Glu57Lys LP/P rs119489101 Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] EFEMP2 O95967 VAR_027020 p.Ile259Val LB/B rs601314 - EFEMP2 O95967 VAR_067069 p.Cys267Tyr LP/P rs193302866 Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] EFEMP2 O95967 VAR_067070 p.Arg279Cys LP/P rs119489102 Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] EFEMP2 O95967 VAR_084029 p.Glu126Lys LP/P - Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] EFEMP2 O95967 VAR_084030 p.Glu126Val LP/P - Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] EFEMP2 O95967 VAR_084031 p.Asp203Ala LP/P - Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] EFEMP2 O95967 VAR_084032 p.Arg227Cys LP/P - Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] EFEMP2 O95967 VAR_084033 p.Ala397Thr LP/P - Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] EFHB Q8N7U6 VAR_027750 p.Val331Ile LB/B rs2931403 - EFHB Q8N7U6 VAR_027751 p.Thr382Ile LB/B rs2929366 - EFHB Q8N7U6 VAR_027752 p.Gln663Pro LB/B rs9868950 - EFHB Q8N7U6 VAR_055296 p.Gly99Val LB/B rs17795400 - EFHB Q8N7U6 VAR_055297 p.Pro269Ser LB/B rs13078867 - EFHB Q8N7U6 VAR_055298 p.Arg826Trp LB/B rs11917204 - EFHC1 Q5JVL4 VAR_023619 p.Pro77Thr LP/P rs149055334 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_023620 p.Arg159Trp LB/B rs3804506 - EFHC1 Q5JVL4 VAR_023621 p.Arg182His LB/B rs3804505 - EFHC1 Q5JVL4 VAR_023622 p.Asp210Asn LP/P rs137852777 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_023623 p.Arg221His LP/P rs79761183 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_023624 p.Phe229Leu US rs137852776 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_023625 p.Asp253Tyr LP/P rs137852778 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_023626 p.Ile619Leu LB/B rs17851770 - EFHC1 Q5JVL4 VAR_026531 p.Arg285Ile LB/B rs17851771 - EFHC1 Q5JVL4 VAR_043154 p.Ile174Val LB/B rs137852779 - EFHC1 Q5JVL4 VAR_043155 p.Cys259Tyr LB/B rs137852780 - EFHC1 Q5JVL4 VAR_043156 p.Arg294His LB/B rs1570624 - EFHC1 Q5JVL4 VAR_043157 p.Arg353Trp LP/P rs527295360 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_043158 p.Ala394Ser US - - EFHC1 Q5JVL4 VAR_043159 p.Met448Thr LB/B rs1266787 - EFHC1 Q5JVL4 VAR_048666 p.Glu357Lys LB/B rs505760 - EFHC1 Q5JVL4 VAR_072108 p.Arg118Cys LP/P rs764096785 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_072109 p.Arg153Gln US rs745600475 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_072110 p.Arg182Cys US rs200191497 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_079772 p.His89Arg LP/P rs543160745 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_079773 p.Arg221Cys LB/B rs139197513 - EFHC1 Q5JVL4 VAR_079774 p.Glu322Lys LP/P - Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_079775 p.Tyr355Cys LP/P rs767833659 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_079776 p.Arg372Trp LP/P rs371151471 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_079777 p.Lys378Glu LP/P - Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_079778 p.Arg436Cys LP/P rs377286138 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_079779 p.Tyr485His LP/P rs779322943 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_079780 p.Asn519Ser LP/P rs527539103 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_079781 p.Val556Leu LP/P rs772265107 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_079782 p.Ile619Ser LP/P rs142458862 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_079783 p.Tyr631Cys LP/P rs574948354 Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770] EFHC2 Q5JST6 VAR_027698 p.Asn31Ser LB/B rs17146914 - EFHC2 Q5JST6 VAR_027699 p.Glu208Lys LB/B rs7062352 - EFHC2 Q5JST6 VAR_027700 p.Ser430Tyr LB/B rs2208592 - EFHC2 Q5JST6 VAR_027701 p.Glu507Gln LB/B rs3747354 - EFHC2 Q5JST6 VAR_061086 p.Cys57Tyr LB/B rs61636783 - EFHD1 Q9BUP0 VAR_047966 p.Lys186Arg LB/B rs11550699 - EFL1 Q7Z2Z2 VAR_037746 p.Glu478Asp LB/B rs2292189 - EFL1 Q7Z2Z2 VAR_037747 p.Ile617Val LB/B rs1128431 - EFL1 Q7Z2Z2 VAR_037748 p.Lys711Arg LB/B rs2292071 - EFL1 Q7Z2Z2 VAR_080513 p.Met882Lys US rs1316615934 Shwachman-Diamond syndrome 2 (SDS2) [MIM:617941] EFL1 Q7Z2Z2 VAR_080514 p.Arg1095Gln US rs376095522 Shwachman-Diamond syndrome 2 (SDS2) [MIM:617941] EFNA1 P20827 VAR_014791 p.Asp159Val LB/B rs4745 - EFNA3 P52797 VAR_048937 p.Val190Met LB/B rs17723260 - EFNA5 P52803 VAR_012035 p.Asn55Lys LB/B rs469062 - EFNB1 P98172 VAR_023127 p.Pro27Arg LP/P - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023128 p.Pro54Leu LP/P rs104894801 Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023129 p.Ile62Thr LP/P - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023130 p.Leu98Ser LP/P - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023131 p.Thr111Ile LP/P rs104894796 Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023132 p.Gln115Pro LP/P - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023133 p.Pro119His LP/P - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023134 p.Pro119Ser LP/P - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023135 p.Pro119Thr LP/P - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023136 p.Thr137Ala LP/P rs2080471329 Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023137 p.Ser138Phe LP/P - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023138 p.Gly151Ser LP/P rs28936069 Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023139 p.Gly151Val LP/P rs28936070 Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023140 p.Cys153Ser LP/P - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023141 p.Cys153Tyr LP/P - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023142 p.Arg154His LB/B rs146636295 - EFNB1 P98172 VAR_023143 p.Thr155Pro LP/P - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023144 p.Met158Ile LP/P rs28935170 Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023145 p.Met158Val LP/P rs28936071 Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023146 p.Ser182Arg LP/P - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023147 p.Val189Ala LB/B rs16989105 - EFNB1 P98172 VAR_059256 p.Thr172Met LB/B rs7889678 - EFNB3 Q15768 VAR_002356 p.Arg166Gln LB/B rs1165640333 - EFR3A Q14156 VAR_047247 p.Gly358Arg LB/B rs2270877 - EFR3A Q14156 VAR_047248 p.Asn365Asp LB/B rs1051221 - EFR3A Q14156 VAR_075101 p.Pro14Arg LB/B - - EFR3A Q14156 VAR_075102 p.Lys50Glu LB/B - - EFR3A Q14156 VAR_075103 p.Gly55Cys LB/B rs749463078 - EFR3A Q14156 VAR_075104 p.Arg70Cys LB/B rs1212454955 - EFR3A Q14156 VAR_075105 p.Phe100Leu LB/B - - EFR3A Q14156 VAR_075106 p.Leu118Pro LB/B - - EFR3A Q14156 VAR_075107 p.Phe123Leu LB/B rs1323253445 - EFR3A Q14156 VAR_075108 p.Met194Val LB/B rs780864616 - EFR3A Q14156 VAR_075109 p.Gly243Ala LB/B - - EFR3A Q14156 VAR_075110 p.Asp268Gly LB/B - - EFR3A Q14156 VAR_075111 p.Glu320Asp LB/B - - EFR3A Q14156 VAR_075112 p.Ala321Ser LB/B rs774959333 - EFR3A Q14156 VAR_075113 p.Val337Leu LB/B - - EFR3A Q14156 VAR_075114 p.Phe338Ser LB/B - - EFR3A Q14156 VAR_075115 p.Asn354Asp LB/B rs754610866 - EFR3A Q14156 VAR_075116 p.Thr451Met LB/B rs770980074 - EFR3A Q14156 VAR_075117 p.Asp504Gly LB/B - - EFR3A Q14156 VAR_075118 p.Leu508Pro LB/B - - EFR3A Q14156 VAR_075119 p.Ile510Val LB/B - - EFR3A Q14156 VAR_075120 p.Gln528Arg LB/B - - EFR3A Q14156 VAR_075121 p.Arg532Trp LB/B rs779475356 - EFR3A Q14156 VAR_075122 p.Ile534Thr LB/B rs374094815 - EFR3A Q14156 VAR_075123 p.Asp570Val LB/B - - EFR3A Q14156 VAR_075124 p.Met646Val LB/B rs759848268 - EFR3A Q14156 VAR_075125 p.Thr785Ala LB/B rs1467962026 - EFS O43281 VAR_035912 p.Met361Ile US rs1463886157 A colorectal cancer sample EFS O43281 VAR_054088 p.Thr7Ala LB/B rs2231798 - EFS O43281 VAR_054089 p.Val100Met LB/B rs2231801 - EFTUD2 Q15029 VAR_014931 p.Gly773Val LB/B rs1056505 - EFTUD2 Q15029 VAR_067580 p.Arg262Trp LP/P rs387906877 Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536] EFTUD2 Q15029 VAR_067581 p.Cys476Arg LP/P - Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536] EFTUD2 Q15029 VAR_067582 p.Leu637Arg LP/P rs387906879 Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536] EGF P01133 VAR_002275 p.Met708Ile LB/B rs2237051 - EGF P01133 VAR_020161 p.Ser16Arg LB/B rs11568849 - EGF P01133 VAR_020162 p.Arg431Lys LB/B rs11568943 - EGF P01133 VAR_020163 p.Gly723Arg LB/B rs6413481 - EGF P01133 VAR_020164 p.Asp784Val LB/B rs11569017 - EGF P01133 VAR_020165 p.Met842Thr LB/B rs11569046 - EGF P01133 VAR_020166 p.Leu1043Phe LB/B rs11569098 - EGF P01133 VAR_020968 p.Asp257His LB/B rs11568911 - EGF P01133 VAR_020969 p.Ser638Arg LB/B rs11568992 - EGF P01133 VAR_020970 p.Glu920Val LB/B rs4698803 - EGF P01133 VAR_020971 p.Asp981Glu LB/B rs11569086 - EGF P01133 VAR_020972 p.Ala1084Gly LB/B rs11569111 - EGF P01133 VAR_033825 p.His151Tyr LB/B rs9991664 - EGF P01133 VAR_033826 p.Leu292His LB/B rs35191533 - EGF P01133 VAR_039474 p.Pro1070Leu LP/P rs121434567 Hypomagnesemia 4 (HOMG4) [MIM:611718] EGFEM1P Q0D2K5 VAR_044016 p.Gly59Asp LB/B rs603638 - EGFEM1P Q0D2K5 VAR_044017 p.Pro157Leu LB/B rs678690 - EGFL6 Q8IUX8 VAR_033366 p.Glu66Lys LB/B rs16979010 - EGFL6 Q8IUX8 VAR_033367 p.Arg164Cys LB/B rs34613284 - EGFL6 Q8IUX8 VAR_033368 p.Leu508Phe LB/B rs34550481 - EGFL6 Q8IUX8 VAR_033369 p.Asp535Asn LB/B rs16979033 - EGFL7 Q9UHF1 VAR_019791 p.Val153Ile LB/B rs2297538 - EGFL7 Q9UHF1 VAR_048981 p.Pro183Ser LB/B rs35863900 - EGFL7 Q9UHF1 VAR_048982 p.Ala186Gly LB/B rs34142075 - EGFL7 Q9UHF1 VAR_070951 p.Gly114Arg LB/B rs61736886 - EGFL8 Q99944 VAR_019792 p.Arg86Lys LB/B rs3096697 - EGFL8 Q99944 VAR_019793 p.Ala204Glu LB/B rs2071289 - EGFL8 Q99944 VAR_048983 p.Gly277Cys LB/B rs35587174 - EGFLAM Q63HQ2 VAR_035302 p.Arg111His LB/B rs2561111 - EGFLAM Q63HQ2 VAR_035303 p.Trp229Arg LB/B rs1465567 - EGFLAM Q63HQ2 VAR_035304 p.Thr473Met LB/B rs16903965 - EGFLAM Q63HQ2 VAR_035305 p.His576Asn LB/B rs6897179 - EGFLAM Q63HQ2 VAR_055718 p.Arg26Pro LB/B rs12522205 - EGFLAM Q63HQ2 VAR_055719 p.Val745Met LB/B rs2561818 - EGFR P00533 VAR_019293 p.Arg98Gln LB/B rs17289589 - EGFR P00533 VAR_019294 p.Pro266Arg LB/B rs17336639 - EGFR P00533 VAR_019295 p.Arg521Lys LB/B rs2227983 - EGFR P00533 VAR_019296 p.Val674Ile LB/B rs17337079 - EGFR P00533 VAR_019297 p.Gly719Ser LB/B rs28929495 - EGFR P00533 VAR_019298 p.Leu858Arg LB/B rs121434568 - EGFR P00533 VAR_019299 p.Arg962Gly LB/B rs17337451 - EGFR P00533 VAR_019300 p.His988Pro LB/B rs17290699 - EGFR P00533 VAR_026084 p.Glu709Ala LB/B rs397517085 - EGFR P00533 VAR_026085 p.Glu709Lys LB/B rs727504256 - EGFR P00533 VAR_026086 p.Gly719Ala LB/B rs121913428 - EGFR P00533 VAR_026087 p.Gly719Cys LB/B rs28929495 - EGFR P00533 VAR_026088 p.Gly719Asp LB/B rs121913428 - EGFR P00533 VAR_026089 p.Gly724Ser LB/B rs1051753269 - EGFR P00533 VAR_026090 p.Glu734Lys LB/B rs121913420 - EGFR P00533 VAR_026093 p.Leu747Phe US - - EGFR P00533 VAR_026095 p.Arg748Pro US - - EGFR P00533 VAR_026097 p.Gln787Arg US - - EGFR P00533 VAR_026098 p.Thr790Met LB/B rs121434569 - EGFR P00533 VAR_026099 p.Leu833Val LB/B rs397517126 - EGFR P00533 VAR_026100 p.Val834Leu LB/B rs397517127 - EGFR P00533 VAR_026101 p.Leu858Met LB/B rs121913443 - EGFR P00533 VAR_026102 p.Leu861Gln LB/B rs121913444 - EGFR P00533 VAR_026103 p.Gly873Glu US - - EGFR P00533 VAR_042095 p.Leu1034Arg LB/B rs34352568 - EGFR P00533 VAR_042096 p.Ala1210Val LB/B rs35918369 - EGFR P00533 VAR_069498 p.Glu709Gly LB/B rs397517085 - EGFR P00533 VAR_069502 p.Ser768Ile LB/B rs121913465 - EGFR P00533 VAR_069503 p.Val769Met LB/B rs147149347 - EGFR P00533 VAR_069504 p.His835Leu LB/B rs397517128 - EGFR P00533 VAR_069505 p.Leu838Val LB/B rs864621996 - EGFR P00533 VAR_072435 p.Gly428Asp LP/P rs606231253 Inflammatory skin and bowel disease, neonatal, 2 (NISBD2) [MIM:616069] EGLN1 Q9GZT9 VAR_027371 p.Pro317Arg LP/P rs80358193 Erythrocytosis, familial, 3 (ECYT3) [MIM:609820] EGLN1 Q9GZT9 VAR_045902 p.Arg371His LP/P rs119476044 Erythrocytosis, familial, 3 (ECYT3) [MIM:609820] EGLN1 Q9GZT9 VAR_071858 p.Asp4Glu LB/B rs186996510 - EGLN1 Q9GZT9 VAR_071859 p.Cys127Ser LB/B rs12097901 - EGLN3 Q9H6Z9 VAR_050449 p.Val136Leu LB/B rs17102002 - EGLN3 Q9H6Z9 VAR_050450 p.Ser234Thr LB/B rs17101995 - EGR1 P18146 VAR_029330 p.Asn144Lys LB/B rs28365166 - EGR1 P18146 VAR_029331 p.Ser145Arg LB/B rs28365164 - EGR1 P18146 VAR_029332 p.Glu219Asp LB/B rs28365165 - EGR1 P18146 VAR_052712 p.Thr28Ile LB/B rs13181973 - EGR2 P11161 VAR_007735 p.Ile268Asn LP/P rs104894158 Neuropathy, congenital hypomyelinating, 1, autosomal recessive (CHN1) [MIM:605253] EGR2 P11161 VAR_007736 p.Asp355Val LP/P rs1589080611 Charcot-Marie-Tooth disease, demyelinating, 1D (CMT1D) [MIM:607678] EGR2 P11161 VAR_007738 p.Arg409Trp LP/P rs104894159 Charcot-Marie-Tooth disease, demyelinating, 1D (CMT1D) [MIM:607678] EGR2 P11161 VAR_009874 p.Arg359Trp LP/P rs104894161 Charcot-Marie-Tooth disease, demyelinating, 1D (CMT1D) [MIM:607678] EGR2 P11161 VAR_009874 p.Arg359Trp LP/P rs104894161 Dejerine-Sottas syndrome (DSS) [MIM:145900] EGR2 P11161 VAR_009875 p.Arg381His LP/P rs281865137 Charcot-Marie-Tooth disease, demyelinating, 1D (CMT1D) [MIM:607678] EGR2 P11161 VAR_029958 p.Arg381Cys LP/P rs1589080524 Charcot-Marie-Tooth disease, demyelinating, 1D (CMT1D) [MIM:607678] EGR2 P11161 VAR_029959 p.Asp383Tyr LP/P rs104894160 Charcot-Marie-Tooth disease, demyelinating, 1D (CMT1D) [MIM:607678] EGR2 P11161 VAR_083343 p.Thr387Asn US rs281865139 Charcot-Marie-Tooth disease, demyelinating, 1D (CMT1D) [MIM:607678] EGR2 P11161 VAR_083344 p.Asp411Gly LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] EGR2 P11161 VAR_083345 p.Glu412Gly LP/P rs749558026 Charcot-Marie-Tooth disease, demyelinating, 1D (CMT1D) [MIM:607678] EGR2 P11161 VAR_083346 p.Glu412Lys LP/P rs121434563 Dejerine-Sottas syndrome (DSS) [MIM:145900] EHBP1 Q8NDI1 VAR_031992 p.Lys755Gln LB/B rs17432615 - EHBP1 Q8NDI1 VAR_035913 p.Arg395Thr US - A breast cancer sample EHBP1L1 Q8N3D4 VAR_031993 p.Arg307Gln LB/B rs3741380 - EHBP1L1 Q8N3D4 VAR_031994 p.Val538Gly LB/B rs6591182 - EHBP1L1 Q8N3D4 VAR_031995 p.Asp569Val LB/B rs1194099 - EHBP1L1 Q8N3D4 VAR_031996 p.Thr599Ile LB/B rs7931052 - EHBP1L1 Q8N3D4 VAR_031997 p.Thr648Ile LB/B rs7931269 - EHBP1L1 Q8N3D4 VAR_061645 p.Val133Leu LB/B rs1194100 - EHD2 Q9NZN4 VAR_033917 p.Gly57Ser LB/B rs34140460 - EHD4 Q9H223 VAR_053070 p.Val154Ile LB/B rs11549015 - EHF Q9NZC4 VAR_048941 p.Ala96Val LB/B rs9804460 - EHHADH Q08426 VAR_047132 p.Thr75Ile LB/B rs1062553 - EHHADH Q08426 VAR_047133 p.Ala274Thr LB/B rs2302819 - EHHADH Q08426 VAR_047134 p.Thr606Pro LB/B rs1042438 - EHHADH Q08426 VAR_047135 p.Gln685Lys LB/B rs11919970 - EHHADH Q08426 VAR_047136 p.Leu715Ser LB/B rs11927618 - EHHADH Q08426 VAR_054329 p.Val40Gly LB/B rs1062551 - EHHADH Q08426 VAR_054330 p.Ile41Arg LB/B rs1062552 - EHHADH Q08426 VAR_054331 p.Ala325Gly LB/B rs1062555 - EHHADH Q08426 VAR_054332 p.Lys598Thr LB/B rs1042437 - EHHADH Q08426 VAR_070949 p.Glu3Lys LP/P rs398124646 Fanconi renotubular syndrome 3 (FRTS3) [MIM:615605] EHMT1 Q9H9B1 VAR_027642 p.Ala388Thr LB/B rs11137198 - EHMT1 Q9H9B1 VAR_036345 p.Ala43Val US rs79514677 A breast cancer sample EHMT1 Q9H9B1 VAR_036346 p.Tyr1173Phe US - A breast cancer sample EHMT1 Q9H9B1 VAR_069183 p.Cys1075Tyr LP/P - Kleefstra syndrome 1 (KLEFS1) [MIM:610253] EHMT2 Q96KQ7 VAR_027973 p.Thr55Asn LB/B rs7887 - EHMT2 Q96KQ7 VAR_027974 p.Tyr1165Phe LB/B rs13919 - EI24 O14681 VAR_065459 p.Asp30Gly US - Some patients with early onset breast cancer EI24 O14681 VAR_065460 p.Pro195Trp US - Some patients with early onset breast cancer EI24 O14681 VAR_065461 p.Ile196Asp US - Some patients with early onset breast cancer EI24 O14681 VAR_065462 p.His197Tyr US - Some patients with early onset breast cancer EI24 O14681 VAR_065463 p.Val199His US - Some patients with early onset breast cancer EI24 O14681 VAR_065464 p.Thr319Ala US rs375652371 Some patients with early onset breast cancer EID2 Q8N6I1 VAR_038351 p.Ala6Thr LB/B rs7252027 - EID2 Q8N6I1 VAR_050964 p.Glu60Ala LB/B rs3746086 - EIF1 P41567 VAR_052505 p.Leu59Pro LB/B rs3390 - EIF1 P41567 VAR_052506 p.Arg90Gly LB/B rs3387 - EIF1AD Q8N9N8 VAR_037851 p.Asp23Asn LB/B rs17849919 - EIF1AD Q8N9N8 VAR_037852 p.Ser159Asn LB/B rs2276017 - EIF2A Q9BY44 VAR_032066 p.Thr97Ser LB/B rs1132979 - EIF2A Q9BY44 VAR_032067 p.Glu582Lys LB/B rs17850813 - EIF2AK1 Q9BQI3 VAR_015732 p.Lys558Arg LB/B rs2640 - EIF2AK1 Q9BQI3 VAR_040466 p.Arg117Thr LB/B rs34889754 - EIF2AK1 Q9BQI3 VAR_040467 p.Lys132Thr LB/B rs34851195 - EIF2AK1 Q9BQI3 VAR_040468 p.Arg134Lys LB/B rs55744865 - EIF2AK1 Q9BQI3 VAR_040469 p.Pro139Ser LB/B rs55963745 - EIF2AK1 Q9BQI3 VAR_040470 p.Arg145His LB/B rs55971369 - EIF2AK1 Q9BQI3 VAR_040471 p.Gly202Ser US rs1216460058 A lung adenocarcinoma sample EIF2AK1 Q9BQI3 VAR_040472 p.Phe292Leu LB/B rs55982710 - EIF2AK1 Q9BQI3 VAR_040473 p.Leu319His LB/B rs34909691 - EIF2AK1 Q9BQI3 VAR_084259 p.Ile448Val US rs1583476115 Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome (LEMSPAD) [MIM:618878] EIF2AK2 P19525 VAR_040474 p.Val428Glu LB/B rs56219559 - EIF2AK2 P19525 VAR_040475 p.Leu439Val US - A lung adenocarcinoma sample EIF2AK2 P19525 VAR_040476 p.Ile506Val LB/B rs34821155 - EIF2AK2 P19525 VAR_084260 p.Met11Leu US - Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN) [MIM:618877] EIF2AK2 P19525 VAR_084261 p.Asn32Ser US - Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN) [MIM:618877] EIF2AK2 P19525 VAR_084262 p.Ser97Phe US - Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN) [MIM:618877] EIF2AK2 P19525 VAR_084263 p.Ala109Ser US - Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN) [MIM:618877] EIF2AK2 P19525 VAR_084264 p.Ala109Val US - Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN) [MIM:618877] EIF2AK2 P19525 VAR_084265 p.Leu114Gln US - - EIF2AK2 P19525 VAR_084266 p.Tyr133Phe US - Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN) [MIM:618877] EIF2AK2 P19525 VAR_084267 p.Gly325Ser US - Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN) [MIM:618877] EIF2AK2 P19525 VAR_084268 p.Ser461Cys US - Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN) [MIM:618877] EIF2AK2 P19525 VAR_086715 p.Asn32Thr US - Dystonia 33 (DYT33) [MIM:619687] EIF2AK2 P19525 VAR_086716 p.Gly130Arg LP/P - Dystonia 33 (DYT33) [MIM:619687] EIF2AK2 P19525 VAR_086717 p.Gly138Ala US - Dystonia 33 (DYT33) [MIM:619687] EIF2AK3 Q9NZJ5 VAR_011408 p.Arg588Gln LP/P rs121908569 Wolcott-Rallison syndrome (WRS) [MIM:226980] EIF2AK3 Q9NZJ5 VAR_011409 p.Ser136Cys LB/B rs867529 - EIF2AK3 Q9NZJ5 VAR_011410 p.Gln166Arg LB/B rs13045 - EIF2AK3 Q9NZJ5 VAR_011411 p.Ala704Ser LB/B rs1805165 - EIF2AK3 Q9NZJ5 VAR_040477 p.Asp566Val LB/B rs55791823 - EIF2AK3 Q9NZJ5 VAR_040478 p.Pro716Leu LB/B rs55861585 - EIF2AK4 Q9P2K8 VAR_040479 p.His137Arg LB/B rs35509999 - EIF2AK4 Q9P2K8 VAR_040480 p.Arg166Trp LB/B rs34439704 - EIF2AK4 Q9P2K8 VAR_040481 p.Ile441Leu LB/B rs2291627 - EIF2AK4 Q9P2K8 VAR_040482 p.Asp872Val LB/B rs34665481 - EIF2AK4 Q9P2K8 VAR_040483 p.His939Tyr US - A lung neuroendocrine carcinoma sample EIF2AK4 Q9P2K8 VAR_040484 p.Thr1060Arg LB/B rs55781333 - EIF2AK4 Q9P2K8 VAR_040485 p.Gly1306Cys LB/B rs35602605 - EIF2AK4 Q9P2K8 VAR_040486 p.Lys1336Arg LB/B rs35480871 - EIF2AK4 Q9P2K8 VAR_040487 p.Gln1406His LB/B rs55721315 - EIF2AK4 Q9P2K8 VAR_070990 p.Arg585Gln LP/P rs587777106 Pulmonary venoocclusive disease 2, autosomal recessive (PVOD2) [MIM:234810] EIF2AK4 Q9P2K8 VAR_070991 p.Leu643Arg LP/P rs757852728 Pulmonary venoocclusive disease 2, autosomal recessive (PVOD2) [MIM:234810] EIF2B1 Q14232 VAR_015404 p.Asn208Tyr LP/P rs113994007 Leukoencephalopathy with vanishing white matter 1 (VWM1) [MIM:603896] EIF2B1 Q14232 VAR_068450 p.Val183Phe LP/P rs863225048 Leukoencephalopathy with vanishing white matter 1 (VWM1) [MIM:603896] EIF2B2 P49770 VAR_012289 p.Glu213Gly LP/P rs104894425 Leukoencephalopathy with vanishing white matter 2 (VWM2) [MIM:620312] EIF2B2 P49770 VAR_012290 p.Val316Asp LP/P rs104894426 Leukoencephalopathy with vanishing white matter 2 (VWM2) [MIM:620312] EIF2B2 P49770 VAR_012321 p.Lys273Arg LP/P rs113994016 Leukoencephalopathy with vanishing white matter 2 (VWM2) [MIM:620312] EIF2B2 P49770 VAR_012322 p.Gly329Val LP/P rs113994020 Leukoencephalopathy with vanishing white matter 2 (VWM2) [MIM:620312] EIF2B2 P49770 VAR_016842 p.Ser171Phe LP/P rs104894428 Leukoencephalopathy with vanishing white matter 2 (VWM2) [MIM:620312] EIF2B2 P49770 VAR_068451 p.Val85Glu LP/P rs397514648 Leukoencephalopathy with vanishing white matter 2 (VWM2) [MIM:620312] EIF2B2 P49770 VAR_068452 p.Pro196Ser LP/P rs113994011 Leukoencephalopathy with vanishing white matter 2 (VWM2) [MIM:620312] EIF2B2 P49770 VAR_068453 p.Gly200Val LP/P rs113994012 Leukoencephalopathy with vanishing white matter 2 (VWM2) [MIM:620312] EIF2B2 P49770 VAR_068454 p.Cys268Tyr LP/P - Leukoencephalopathy with vanishing white matter 2 (VWM2) [MIM:620312] EIF2B2 P49770 VAR_079034 p.Ala127Val US rs150617429 - EIF2B3 Q9NR50 VAR_015409 p.Ala87Val LP/P rs113994022 Leukoencephalopathy with vanishing white matter 3 (VWM3) [MIM:620313] EIF2B3 Q9NR50 VAR_015410 p.Arg225Gln LP/P rs113994024 Leukoencephalopathy with vanishing white matter 3 (VWM3) [MIM:620313] EIF2B3 Q9NR50 VAR_048920 p.Asp288Glu LB/B rs3738247 - EIF2B3 Q9NR50 VAR_068470 p.Leu27Gln LP/P rs397514647 Leukoencephalopathy with vanishing white matter 3 (VWM3) [MIM:620313] EIF2B3 Q9NR50 VAR_068471 p.Gly47Glu LP/P - Leukoencephalopathy with vanishing white matter 3 (VWM3) [MIM:620313] EIF2B3 Q9NR50 VAR_068472 p.Ile346Thr LP/P rs119474039 Leukoencephalopathy with vanishing white matter 3 (VWM3) [MIM:620313] EIF2B4 Q9UI10 VAR_015405 p.Ala228Val LP/P rs113994027 Leukoencephalopathy with vanishing white matter 4 (VWM4) [MIM:620314] EIF2B4 Q9UI10 VAR_015406 p.Arg306Gly LB/B rs78599355 - EIF2B4 Q9UI10 VAR_015407 p.Arg357Gln LP/P rs113994033 Leukoencephalopathy with vanishing white matter 4 (VWM4) [MIM:620314] EIF2B4 Q9UI10 VAR_015408 p.Arg374Cys LP/P rs113994035 Leukoencephalopathy with vanishing white matter 4 (VWM4) [MIM:620314] EIF2B4 Q9UI10 VAR_016843 p.Cys465Arg LP/P rs113994038 Leukoencephalopathy with vanishing white matter 4 (VWM4) [MIM:620314] EIF2B4 Q9UI10 VAR_016844 p.Tyr489His LP/P rs113994040 Leukoencephalopathy with vanishing white matter 4 (VWM4) [MIM:620314] EIF2B4 Q9UI10 VAR_048918 p.Ala93Val LB/B rs34155621 - EIF2B4 Q9UI10 VAR_068455 p.Arg209Gln LP/P rs113994028 Leukoencephalopathy with vanishing white matter 4 (VWM4) [MIM:620314] EIF2B4 Q9UI10 VAR_068456 p.Leu269Arg LP/P rs113994031 Leukoencephalopathy with vanishing white matter 4 (VWM4) [MIM:620314] EIF2B5 Q13144 VAR_012291 p.Thr91Ala LP/P rs28939717 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_012292 p.Arg113His LP/P rs113994049 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_012293 p.Gly386Val LP/P rs113994074 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_012294 p.Trp628Arg LP/P rs28937596 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_012323 p.Val73Gly LP/P rs113994045 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_012324 p.Leu106Phe LP/P rs113994048 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_012325 p.Arg299His LP/P rs113994060 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_012326 p.Arg315Gly LP/P rs113994063 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_012327 p.Arg315His LP/P rs113994064 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_012328 p.Arg339Pro LP/P rs113994069 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_012329 p.Arg339Gln LP/P rs113994069 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_012330 p.Arg339Trp LP/P rs113994068 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_012331 p.Val430Ala LP/P rs113994079 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_012332 p.Ile587Val LB/B rs843358 - EIF2B5 Q13144 VAR_012333 p.Glu650Lys LP/P rs113994085 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_016845 p.Arg195Cys LP/P rs113994055 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_016846 p.Arg195His LP/P rs113994054 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_048919 p.Asn200Thr LB/B rs2971409 - EIF2B5 Q13144 VAR_068457 p.Asp62Val LP/P rs1560105986 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_068458 p.Leu68Ser LP/P rs113994044 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_068459 p.Ala74Thr LP/P rs113994046 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_068460 p.Arg113Cys LP/P rs113994050 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_068461 p.Arg269Gly LP/P rs113994058 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_068462 p.Arg269Gln LP/P rs113994057 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_068463 p.Asp270His LP/P rs397514646 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_068464 p.Cys310Phe LP/P rs113994062 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_068465 p.Arg315Cys LP/P rs113994063 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_068466 p.Cys335Arg LP/P rs113994067 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_068467 p.Cys335Ser LP/P - Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_068468 p.Asn376Asp LP/P - Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5 Q13144 VAR_068469 p.Ser447Leu LP/P rs113994080 Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2D P41214 VAR_052507 p.Thr210Ile LB/B rs35252702 - EIF2S2 P20042 VAR_048909 p.Glu177Asp LB/B rs17856024 - EIF2S3 P41091 VAR_002352 p.Lys125Arg LB/B rs16997659 - EIF2S3 P41091 VAR_077139 p.Ile222Thr LP/P rs886040855 MEHMO syndrome (MEHMO) [MIM:300148] EIF2S3 P41091 VAR_077140 p.Ile259Met LP/P rs886040856 MEHMO syndrome (MEHMO) [MIM:300148] EIF2S3 P41091 VAR_078100 p.Ser108Arg US rs1057515578 MEHMO syndrome (MEHMO) [MIM:300148] EIF2S3 P41091 VAR_088599 p.Thr144Ile LP/P rs751468976 MEHMO syndrome (MEHMO) [MIM:300148] EIF2S3 P41091 VAR_088600 p.Ile159Leu LP/P - MEHMO syndrome (MEHMO) [MIM:300148] EIF2S3 P41091 VAR_088601 p.Pro432Ser US - - EIF3A Q14152 VAR_024438 p.Glu386Lys LB/B rs967185 - EIF3A Q14152 VAR_048921 p.Lys694Asn LB/B rs431898 - EIF3A Q14152 VAR_048922 p.Asp993Glu LB/B rs532138 - EIF3B P55884 VAR_047972 p.Ser64Pro LB/B rs9690787 - EIF3B P55884 VAR_047973 p.Asp793Glu LB/B rs1063257 - EIF3D O15371 VAR_074184 p.Arg310Cys LB/B rs745920273 - EIF3E P60228 VAR_046480 p.Ala185Val LB/B rs17856554 - EIF3F O00303 VAR_014452 p.Trp172Leu LB/B rs1044058 - EIF3F O00303 VAR_029267 p.Pro39Leu LB/B rs1043738 - EIF3F O00303 VAR_081783 p.Phe232Val LP/P rs141976414 Intellectual developmental disorder, autosomal recessive 67 (MRT67) [MIM:618295] EIF3J O75822 VAR_034007 p.Ala141Thr LB/B rs2303578 - EIF3M Q7L2H7 VAR_036752 p.Gly37Arg LB/B rs11557143 - EIF3M Q7L2H7 VAR_036753 p.Glu80Gly US - A breast cancer sample EIF3M Q7L2H7 VAR_036754 p.Gln346Arg LB/B rs1802363 - EIF4A2 Q14240 VAR_035838 p.Val181Leu US - A breast cancer sample EIF4A2 Q14240 VAR_052158 p.Gln93His LB/B rs11538616 - EIF4A3 P38919 VAR_071090 p.Asp270Gly LP/P rs587777204 Richieri-Costa-Pereira syndrome (RCPS) [MIM:268305] EIF4B P23588 VAR_064710 p.Pro203Arg US - - EIF4E1B A6NMX2 VAR_044209 p.Asp227Tyr LB/B rs13163938 - EIF4G1 Q04637 VAR_036117 p.Pro696Leu US rs754755344 A colorectal cancer sample EIF4G1 Q04637 VAR_055704 p.Tyr311Cys LB/B rs16858632 - EIF4G1 Q04637 VAR_055705 p.Leu1233Pro LB/B rs2230570 - EIF4G1 Q04637 VAR_061147 p.Thr161Ala LB/B rs13319149 - EIF4G1 Q04637 VAR_061148 p.Pro1229Ala LB/B rs35629949 - EIF4G1 Q04637 VAR_063040 p.Met432Val LB/B rs2178403 - EIF4G1 Q04637 VAR_066571 p.Pro71Ser LB/B rs113810947 - EIF4G1 Q04637 VAR_066573 p.Ala502Val LP/P rs111290936 Parkinson disease 18 (PARK18) [MIM:614251] EIF4G1 Q04637 VAR_066574 p.Gly686Cys US rs112019125 - EIF4G1 Q04637 VAR_066575 p.Ile806Val LB/B rs62287499 - EIF4G1 Q04637 VAR_066576 p.Thr829Ser LB/B rs111500185 - EIF4G1 Q04637 VAR_066577 p.Ser1164Arg US rs113169049 - EIF4G1 Q04637 VAR_066578 p.Arg1197Trp US rs113388242 - EIF4G1 Q04637 VAR_066579 p.Arg1205His LP/P rs112176450 Parkinson disease 18 (PARK18) [MIM:614251] EIF4G1 Q04637 VAR_066580 p.Asn1257Ser LB/B rs73053766 - EIF4G1 Q04637 VAR_079031 p.Arg201His US rs34838305 - EIF4G2 P78344 VAR_048923 p.Leu236Met LB/B rs34885591 - EIF4G3 O43432 VAR_034009 p.Pro496Ala LB/B rs35176330 - EIF4G3 O43432 VAR_048924 p.Gln378Arg LB/B rs35731992 - EIF4G3 O43432 VAR_048925 p.Asp1185Glu LB/B rs2230572 - EIF5 P55010 VAR_036467 p.Lys418Met US - A breast cancer sample EIF5A P63241 VAR_085973 p.Thr48Asn LP/P - Faundes-Banka syndrome (FABAS) [MIM:619376] EIF5A P63241 VAR_085974 p.Gly106Arg LP/P - Faundes-Banka syndrome (FABAS) [MIM:619376] EIF5A P63241 VAR_085976 p.Arg109Gly LP/P - Faundes-Banka syndrome (FABAS) [MIM:619376] EIF5A P63241 VAR_085977 p.Pro115Ser LP/P - Faundes-Banka syndrome (FABAS) [MIM:619376] EIF5A P63241 VAR_085978 p.Glu122Lys LP/P - Faundes-Banka syndrome (FABAS) [MIM:619376] EIF5A2 Q9GZV4 VAR_027943 p.Glu42Asp LB/B rs776545602 - EIF5B O60841 VAR_055954 p.Ser337Gly LB/B rs10642 - EIF5B O60841 VAR_055955 p.Arg360Gly LB/B rs3205296 - EIF5B O60841 VAR_060587 p.Lys522Thr LB/B rs7558074 - ELAC1 Q9H777 VAR_017424 p.Met355Val LB/B rs34524743 - ELAC2 Q9BQ52 VAR_017425 p.Arg211Gln LP/P rs148419785 Prostate cancer, hereditary, 2 (HPC2) [MIM:614731] ELAC2 Q9BQ52 VAR_017426 p.Ser217Leu LP/P rs4792311 Prostate cancer, hereditary, 2 (HPC2) [MIM:614731] ELAC2 Q9BQ52 VAR_017427 p.Gly487Arg LP/P rs752234492 Prostate cancer, hereditary, 2 (HPC2) [MIM:614731] ELAC2 Q9BQ52 VAR_017428 p.Ala541Thr LP/P rs5030739 Prostate cancer, hereditary, 2 (HPC2) [MIM:614731] ELAC2 Q9BQ52 VAR_017429 p.Glu622Val LP/P rs119484087 Prostate cancer, hereditary, 2 (HPC2) [MIM:614731] ELAC2 Q9BQ52 VAR_017430 p.Ser627Leu LB/B rs78105154 - ELAC2 Q9BQ52 VAR_017431 p.Arg781His LP/P rs119484086 Prostate cancer, hereditary, 2 (HPC2) [MIM:614731] ELAC2 Q9BQ52 VAR_017432 p.Gly806Arg LP/P rs770669443 Prostate cancer, hereditary, 2 (HPC2) [MIM:614731] ELAC2 Q9BQ52 VAR_038210 p.Ser52Phe LB/B rs9895963 - ELAC2 Q9BQ52 VAR_038211 p.Asp436Asn LB/B rs3760317 - ELAC2 Q9BQ52 VAR_070844 p.Phe154Leu LP/P rs397515465 Combined oxidative phosphorylation deficiency 17 (COXPD17) [MIM:615440] ELAC2 Q9BQ52 VAR_070845 p.Leu423Phe LP/P rs397515466 Combined oxidative phosphorylation deficiency 17 (COXPD17) [MIM:615440] ELAC2 Q9BQ52 VAR_070846 p.Thr520Ile LP/P rs397515463 Combined oxidative phosphorylation deficiency 17 (COXPD17) [MIM:615440] ELANE P08246 VAR_019237 p.Val219Ile LB/B rs17216656 - ELANE P08246 VAR_019238 p.Pro257Leu LB/B rs17216663 - ELANE P08246 VAR_019239 p.Pro262Leu LB/B rs17216670 - ELANE P08246 VAR_038609 p.Cys55Tyr LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_038610 p.Ala57Thr LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_038611 p.Ile60Thr LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_038612 p.Cys71Arg LP/P rs28931611 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_038613 p.Cys71Ser LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_038614 p.Gly85Glu LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_038615 p.Val98Leu LP/P rs267606781 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_038616 p.Val101Leu LP/P rs137854449 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_038617 p.Val101Met LP/P rs137854449 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_038619 p.Ser126Leu LP/P rs137854450 Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_038619 p.Ser126Leu LP/P rs137854450 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_038620 p.Pro139Leu LP/P rs137854448 Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_038620 p.Pro139Leu LP/P rs137854448 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_038621 p.Cys151Ser LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_038623 p.Pro205Arg LP/P rs1555710077 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_038624 p.Gly210Val LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_038625 p.Gly214Arg LP/P rs137854451 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_064512 p.Ala25Val LP/P rs1396230082 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_064513 p.Ala166Thr LP/P rs201788817 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070696 p.Pro42Leu LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070697 p.Phe43Leu LP/P - Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_070697 p.Phe43Leu LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070698 p.Met44Arg LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070699 p.Val45Glu LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070700 p.Val45Leu LP/P - Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_070701 p.Ser46Cys LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070702 p.Ser46Phe LP/P rs878855320 Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_070702 p.Ser46Phe LP/P rs878855320 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070703 p.Leu47Pro LP/P rs878855319 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070704 p.Leu47Arg LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070705 p.Leu49Pro LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070706 p.His53Leu LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070707 p.His53Gln LP/P - Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_070708 p.His53Tyr LP/P rs1131691882 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070709 p.Cys55Ser LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070710 p.Gly56Arg LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070711 p.Ala57Ser LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070712 p.Ala57Val LP/P rs1057520110 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070713 p.Leu59Pro LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070715 p.Ala61Val LP/P rs137854447 Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_070715 p.Ala61Val LP/P rs137854447 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070718 p.Ser67Trp LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070719 p.Cys71Phe LP/P rs878855315 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070720 p.Cys71Tyr LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070721 p.Val72Gly LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070722 p.Val80Gly LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070723 p.Arg81Pro LP/P - Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_070723 p.Arg81Pro LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070724 p.Val82Met LP/P - Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_070724 p.Val82Met LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070725 p.Leu84Pro LP/P rs1064793108 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070726 p.Gly85Arg LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070727 p.Gln97Leu LP/P - Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_070728 p.Val98Met LP/P rs267606781 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070729 p.Arg103Leu LP/P rs745455816 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070730 p.Arg103Pro LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070731 p.Ile104Asn LP/P - Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_070732 p.Ile118Val LB/B rs1382122842 - ELANE P08246 VAR_070733 p.Ile120Phe LP/P rs1131691520 Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_070733 p.Ile120Phe LP/P rs1131691520 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070734 p.Ile120Asn LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070735 p.Ile120Ser LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070736 p.Leu121Pro LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070737 p.Leu123His LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070738 p.Asn124Ile LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070739 p.Gly125Arg LB/B rs377698556 - ELANE P08246 VAR_070740 p.Ala127Asp LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070741 p.Ala127Pro LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070742 p.Ala131Thr US rs201729066 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070743 p.Val135Met LB/B rs774457980 - ELANE P08246 VAR_070744 p.Ala136Asp LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070745 p.Pro139Arg LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070746 p.Arg143His US rs200993994 Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_070747 p.Cys151Phe LP/P rs57246956 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070748 p.Cys151Trp LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070749 p.Cys151Tyr US rs57246956 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070750 p.Leu152Pro LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070751 p.Ala153Asp LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070752 p.Ala153Pro LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070753 p.Trp156Cys LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070754 p.Trp156Arg LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070755 p.Gly203Cys LP/P - Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_070755 p.Gly203Cys LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070756 p.Gly203Arg LP/P rs201139487 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070757 p.Leu206Phe LP/P rs137854446 Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_070758 p.Leu206Ser LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070759 p.Cys208Gly LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070760 p.Asn209Ile LP/P - Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_070761 p.Gly210Trp LP/P - Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_070762 p.Gly214Glu LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070763 p.Arg220Gln LP/P rs137854445 Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_070763 p.Arg220Gln LP/P rs137854445 Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070764 p.Ala233Pro LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070765 p.Val235Glu LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELANE P08246 VAR_070766 p.Val235Gly LP/P - Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] ELAPOR1 Q6UXG2 VAR_032138 p.Ile86Val LB/B rs678238 - ELAPOR1 Q6UXG2 VAR_032139 p.Thr623Pro LB/B rs659543 - ELAPOR1 Q6UXG2 VAR_032140 p.Leu1009Pro LB/B rs1052878 - ELAPOR1 Q6UXG2 VAR_035751 p.Ser829Arg US - A breast cancer sample ELAPOR2 A8MWY0 VAR_043161 p.Asn539Tyr LB/B rs1029366 - ELAPOR2 A8MWY0 VAR_043162 p.Leu729Val LB/B rs34412146 - ELAPOR2 A8MWY0 VAR_043163 p.Ser767Arg LB/B rs34577440 - ELAVL4 P26378 VAR_052204 p.Pro275Ser LB/B rs2494876 - ELAVL4 P26378 VAR_058091 p.Asp171Gly LB/B rs17853533 - ELAVL4 P26378 VAR_058092 p.Ala361Thr LB/B rs17853531 - ELF1 P32519 VAR_048942 p.Asn58Ser LB/B rs7799 - ELF1 P32519 VAR_048943 p.Thr343Ser LB/B rs1056820 - ELF1 P32519 VAR_048944 p.Thr403Ile LB/B rs7323148 - ELF3 P78545 VAR_048945 p.Gln317Lys LB/B rs1135542 - ELF4 Q99607 VAR_087047 p.Ala95Thr LB/B rs147410657 - ELF4 Q99607 VAR_087048 p.Ala147Val LB/B rs150084985 - ELF4 Q99607 VAR_087049 p.Arg177Lys LB/B rs747352505 - ELF4 Q99607 VAR_087050 p.Thr187Asn LB/B rs137884184 - ELF4 Q99607 VAR_087051 p.Trp231Arg LP/P - Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (AIFBL2) [MIM:301074] ELF4 Q99607 VAR_087052 p.Trp251Ser LP/P - Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (AIFBL2) [MIM:301074] ELF4 Q99607 VAR_087053 p.Ser345Thr LB/B rs141440727 - ELF4 Q99607 VAR_087054 p.Pro368Leu LB/B rs576980542 - ELF4 Q99607 VAR_087055 p.Val382Ile LB/B rs148953158 - ELF4 Q99607 VAR_087056 p.Val408Met LB/B rs199975202 - ELF4 Q99607 VAR_087057 p.Val411Met LB/B rs145786527 - ELF4 Q99607 VAR_087058 p.Ala500Val LB/B rs145281864 - ELF4 Q99607 VAR_087059 p.Pro512Leu LB/B rs370055472 - ELF4 Q99607 VAR_087060 p.Arg604Cys LB/B rs141284451 - ELK1 P19419 VAR_017108 p.Gly144Ser LB/B rs1997639 - ELK1 P19419 VAR_017109 p.Ser183Asn LB/B rs1059579 - ELK3 P41970 VAR_048946 p.Pro169Leu LB/B rs35332676 - ELL P55199 VAR_053072 p.Ser297Asn LB/B rs2303694 - ELL P55199 VAR_053073 p.Arg387Trp LB/B rs35245196 - ELL2 O00472 VAR_058406 p.Ala298Thr LB/B rs3815768 - ELL3 Q9HB65 VAR_018992 p.Gln11Glu LB/B rs2277531 - ELL3 Q9HB65 VAR_053074 p.Trp140Arg LB/B rs35454865 - ELMO1 Q92556 VAR_065824 p.Ile362Ser LB/B - - ELMO2 Q96JJ3 VAR_048928 p.Glu695Asp LB/B rs34630674 - ELMO3 Q96BJ8 VAR_055402 p.Lys13Gln LB/B rs12923138 - ELMO3 Q96BJ8 VAR_055403 p.Asn95Asp LB/B rs8058861 - ELMO3 Q96BJ8 VAR_055404 p.Arg316Cys LB/B rs33948247 - ELMOD3 Q96FG2 VAR_030362 p.Arg66Cys LB/B rs7564372 - ELMOD3 Q96FG2 VAR_030363 p.Thr70Ile LB/B rs955592 - ELMOD3 Q96FG2 VAR_070125 p.Leu265Ser LP/P rs587777040 Deafness, autosomal recessive, 88 (DFNB88) [MIM:615429] ELMOD3 Q96FG2 VAR_086112 p.His171Arg LP/P - Deafness, autosomal dominant, 81 (DFNA81) [MIM:619500] ELN P15502 VAR_020882 p.Gly422Ser LB/B rs2071307 - ELN P15502 VAR_056869 p.Gly610Arg LB/B rs17855988 - ELN P15502 VAR_072395 p.Pro211Ser US rs1064793880 - ELOA Q14241 VAR_020104 p.Thr119Met LB/B rs2235541 - ELOA Q14241 VAR_033850 p.Val298Ile LB/B rs520713 - ELOA Q14241 VAR_033851 p.Ala490Val LB/B rs550252 - ELOA2 Q8IYF1 VAR_035914 p.Arg498Gln US rs138369139 A colorectal cancer sample ELOA2 Q8IYF1 VAR_050965 p.Arg179Pro LB/B rs2571028 - ELOA2 Q8IYF1 VAR_050966 p.Cys254Phe LB/B rs2010834 - ELOA2 Q8IYF1 VAR_050967 p.Ala403Ser LB/B rs892586 - ELOA2 Q8IYF1 VAR_061646 p.Ala446Thr LB/B rs3744863 - ELOVL1 Q9BW60 VAR_083193 p.Ser165Phe LP/P - Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies (IKSHD) [MIM:618527] ELOVL2 Q9NXB9 VAR_039039 p.Thr216Ala LB/B rs17855038 - ELOVL2 Q9NXB9 VAR_039040 p.Val225Met LB/B rs6919726 - ELOVL4 Q9GZR5 VAR_012492 p.Met299Val LB/B rs3812153 - ELOVL4 Q9GZR5 VAR_017043 p.Ile267Thr LB/B rs148594713 - ELOVL4 Q9GZR5 VAR_072565 p.Leu168Phe LP/P rs587777598 Spinocerebellar ataxia 34 (SCA34) [MIM:133190] ELOVL5 Q9NYP7 VAR_072361 p.Leu72Val LP/P rs587777671 Spinocerebellar ataxia 38 (SCA38) [MIM:615957] ELOVL5 Q9NYP7 VAR_072362 p.Gly230Val LP/P rs587777670 Spinocerebellar ataxia 38 (SCA38) [MIM:615957] ELP1 O95163 VAR_011327 p.Arg696Pro LP/P rs137853022 Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) [MIM:223900] ELP1 O95163 VAR_047476 p.Arg70Cys LB/B rs3737311 - ELP1 O95163 VAR_047477 p.Met182Lys LB/B rs10521092 - ELP1 O95163 VAR_047478 p.Glu312Lys LB/B rs1140064 - ELP1 O95163 VAR_047479 p.Arg525Gln LB/B rs838827 - ELP1 O95163 VAR_047480 p.Gly765Glu LB/B rs2230792 - ELP1 O95163 VAR_047481 p.Ile816Leu LB/B rs2230793 - ELP1 O95163 VAR_047482 p.Ile830Met LB/B rs2230794 - ELP1 O95163 VAR_047483 p.Thr848Asn LB/B rs10979599 - ELP1 O95163 VAR_047484 p.Lys952Ile LB/B rs2230798 - ELP1 O95163 VAR_047485 p.Gly1013Ser LB/B rs2230795 - ELP1 O95163 VAR_047486 p.Cys1072Ser LB/B rs3204145 - ELP1 O95163 VAR_047487 p.Pro1158Leu LB/B rs1538660 - ELP1 O95163 VAR_085681 p.Pro914Leu LP/P - Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) [MIM:223900] ELP2 Q6IA86 VAR_024072 p.Thr128Pro LB/B rs1785934 - ELP2 Q6IA86 VAR_024073 p.Val305Met LB/B rs1785928 - ELP2 Q6IA86 VAR_024074 p.His359Arg LB/B rs16967474 - ELP2 Q6IA86 VAR_024075 p.Glu795Gly LB/B rs12607773 - ELP2 Q6IA86 VAR_024076 p.His806Pro LB/B rs1044128 - ELP2 Q6IA86 VAR_033804 p.Ile541Thr LB/B rs28463092 - ELP2 Q6IA86 VAR_033805 p.Thr543Pro LB/B rs17563617 - ELP2 Q6IA86 VAR_033806 p.Thr815Pro LB/B rs1044134 - ELP2 Q6IA86 VAR_077989 p.His206Arg US rs773432002 Intellectual developmental disorder, autosomal recessive 58 (MRT58) [MIM:617270] ELP2 Q6IA86 VAR_077990 p.Arg462Trp US rs767713084 Intellectual developmental disorder, autosomal recessive 58 (MRT58) [MIM:617270] ELP4 Q96EB1 VAR_053881 p.Ile300Leu LB/B rs34804357 - ELP5 Q8TE02 VAR_031205 p.Asp287Tyr LB/B rs17849664 - ELSPBP1 Q96BH3 VAR_036760 p.Cys100Trp LB/B rs3745751 - ELSPBP1 Q96BH3 VAR_036761 p.Asp170Asn LB/B rs35362679 - ELSPBP1 Q96BH3 VAR_036762 p.Glu199Lys LB/B rs2303690 - ELSPBP1 Q96BH3 VAR_036763 p.Asp215Asn LB/B rs6509358 - EMC1 Q8N766 VAR_027359 p.Leu295Ser LB/B rs3850531 - EMC1 Q8N766 VAR_027360 p.Ser345Thr LB/B rs709683 - EMC1 Q8N766 VAR_027361 p.Ser347Asn LB/B rs709682 - EMC1 Q8N766 VAR_076915 p.Thr82Met LP/P rs869320625 Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) [MIM:616875] EMC1 Q8N766 VAR_076916 p.Ala144Thr US rs869320623 - EMC1 Q8N766 VAR_076917 p.Gly471Arg US rs879253819 Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) [MIM:616875] EMC1 Q8N766 VAR_076918 p.Gly868Arg LP/P rs869320626 Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) [MIM:616875] EMC4 Q5J8M3 VAR_053775 p.Pro98Thr LB/B rs11544437 - EMC9 Q9Y3B6 VAR_052532 p.Ala97Val LB/B rs11574512 - EMD P50402 VAR_005198 p.Ser54Phe LP/P - Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300] EMD P50402 VAR_005199 p.Pro183His LP/P rs104894805 Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300] EMD P50402 VAR_005200 p.Pro183Thr LP/P rs104894806 Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300] EMD P50402 VAR_016016 p.Gln133His LP/P - Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300] EMD P50402 VAR_038433 p.Asp149His LB/B rs2070818 - EME1 Q96AY2 VAR_025337 p.Ile49Val LB/B rs9896405 - EME1 Q96AY2 VAR_025338 p.Glu69Asp LB/B rs3760413 - EME1 Q96AY2 VAR_025339 p.Ile350Thr LB/B rs12450550 - EME1 Q96AY2 VAR_055708 p.Lys5Asn LB/B rs35248609 - EME1 Q96AY2 VAR_055709 p.Phe63Leu LB/B rs17714854 - EME1 Q96AY2 VAR_055710 p.Val347Ile LB/B rs7222520 - EMG1 Q92979 VAR_050237 p.Ala34Gly LB/B rs11064480 - EMG1 Q92979 VAR_062480 p.Asp86Gly LP/P rs74435397 Bowen-Conradi syndrome (BWCNS) [MIM:211180] EMID1 Q96A84 VAR_019803 p.Ala107Gly LB/B rs743920 - EMILIN1 Q9Y6C2 VAR_046095 p.Arg149Gln LB/B rs2736976 - EMILIN1 Q9Y6C2 VAR_046096 p.Gln536Arg LB/B rs36069611 - EMILIN1 Q9Y6C2 VAR_046097 p.Glu903Lys LB/B rs36045790 - EMILIN1 Q9Y6C2 VAR_077591 p.Ala22Thr US rs753862645 - EMILIN1 Q9Y6C2 VAR_087801 p.Arg250Cys LP/P - Neuronopathy, distal hereditary motor, autosomal dominant 10 (HMND10) [MIM:620080] EMILIN2 Q9BXX0 VAR_057528 p.Ala215Thr LB/B rs16943977 - EMILIN2 Q9BXX0 VAR_057529 p.Met259Val LB/B rs35267664 - EMILIN2 Q9BXX0 VAR_062003 p.Pro903Ser LB/B rs56288451 - EMILIN3 Q9NT22 VAR_053075 p.Ser532Asn LB/B rs2235592 - EML1 O00423 VAR_031720 p.Ala377Val LB/B rs34198557 - EML1 O00423 VAR_031721 p.His552Asn LB/B rs17853154 - EML1 O00423 VAR_031722 p.Ser556Pro LB/B rs2250718 - EML1 O00423 VAR_071075 p.Trp225Arg LP/P rs886037937 Band heterotopia (BH) [MIM:600348] EML1 O00423 VAR_071076 p.Thr243Ala LP/P rs886037936 Band heterotopia (BH) [MIM:600348] EML2 O95834 VAR_022026 p.Arg357His LB/B rs3816045 - EML2 O95834 VAR_024697 p.Glu235Asp LB/B rs1545040 - EML2 O95834 VAR_031723 p.Met33Val LB/B rs12151009 - EML2 O95834 VAR_031724 p.Leu187Phe LB/B rs7252175 - EML2 O95834 VAR_035879 p.Val484Leu US rs1270442107 A colorectal cancer sample EML3 Q32P44 VAR_031725 p.Gln620Lys LB/B rs34098002 - EML4 Q9HC35 VAR_031726 p.Lys283Glu LB/B rs6736913 - EML4 Q9HC35 VAR_031727 p.Ile382Val LB/B rs10202624 - EML4 Q9HC35 VAR_031728 p.Lys398Arg LB/B rs28651764 - EML4 Q9HC35 VAR_031729 p.Ser978Leu LB/B rs28364731 - EML5 Q05BV3 VAR_031730 p.Ile269Val LB/B rs17188228 - EMP1 P54849 VAR_050608 p.Ser57Asn LB/B rs34412222 - EMP2 P54851 VAR_071478 p.Phe7Leu LP/P rs730882194 Nephrotic syndrome 10 (NPHS10) [MIM:615861] EMP2 P54851 VAR_071479 p.Ala10Thr LP/P rs587777482 Nephrotic syndrome 10 (NPHS10) [MIM:615861] EMP3 P54852 VAR_050609 p.Ile125Val LB/B rs4893 - EN2 P19622 VAR_021985 p.Leu121Phe LB/B rs3735653 - ENAM Q9NRM1 VAR_020105 p.Pro724Leu LB/B rs3796703 - ENAM Q9NRM1 VAR_024311 p.Phe576Leu LB/B rs2609428 - ENAM Q9NRM1 VAR_024312 p.Ile648Thr LB/B rs7671281 - ENAM Q9NRM1 VAR_024313 p.Arg763Gln LB/B rs3796704 - ENAM Q9NRM1 VAR_047076 p.Asp767Gly LB/B rs3796705 - ENAM Q9NRM1 VAR_073665 p.Ser216Leu LP/P rs867263935 Amelogenesis imperfecta 1B (AI1B) [MIM:104500] ENAM Q9NRM1 VAR_073665 p.Ser216Leu LP/P rs867263935 Amelogenesis imperfecta 1C (AI1C) [MIM:204650] ENC1 O14682 VAR_050040 p.Ile256Ser LB/B rs16872126 - ENDOD1 O94919 VAR_022044 p.Val350Met LB/B rs3740862 - ENDOD1 O94919 VAR_022045 p.Gly446Val LB/B rs3740861 - ENDOG Q14249 VAR_031691 p.Ser12Leu LB/B rs2293969 - ENDOV Q8N8Q3 VAR_046285 p.Val29Ile LB/B rs35549084 - ENDOV Q8N8Q3 VAR_046286 p.Arg112Gln LB/B rs34933300 - ENDOV Q8N8Q3 VAR_046287 p.Lys114Arg LB/B rs41298706 - ENDOV Q8N8Q3 VAR_046288 p.His141Tyr LB/B rs41299812 - ENDOV Q8N8Q3 VAR_046289 p.Asp201Asn LB/B rs35929621 - ENG P17813 VAR_005192 p.Thr5Met LB/B rs35400405 - ENG P17813 VAR_005193 p.Gly52Val LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_005194 p.Cys53Arg LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_005195 p.Trp149Cys LP/P rs878853657 Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_005197 p.Leu306Pro LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_009120 p.Ala160Asp LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_009121 p.Leu221Pro LP/P rs1554810378 Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_014764 p.Asp366His LB/B rs1800956 - ENG P17813 VAR_026774 p.Leu8Pro LP/P rs1564466414 Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_026775 p.Val49Phe LP/P rs1252348200 Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_026776 p.Leu107Arg LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_026780 p.Ile263Thr LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_026781 p.Cys412Ser LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_026782 p.Val504Met LP/P rs116330805 Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_026783 p.Ser615Leu LB/B rs148002300 - ENG P17813 VAR_037140 p.Gly413Val LP/P rs121918401 Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070279 p.Ala11Asp LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070280 p.Val105Asp LP/P rs1588585880 Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070281 p.Ala150Pro US - - ENG P17813 VAR_070282 p.Ala175Glu LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070284 p.Arg205Pro LB/B - - ENG P17813 VAR_070285 p.Ile220Thr LP/P rs1588582695 Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070286 p.Leu221Gln LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070287 p.Val236Met US rs754136153 - ENG P17813 VAR_070288 p.Val238Glu LP/P rs1060501415 Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070289 p.Ile263Ser LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070290 p.Met269Arg LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070291 p.Ala308Asp LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070292 p.Val315Met US rs763508329 - ENG P17813 VAR_070293 p.Cys363Ser LP/P rs1588580782 Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070294 p.Lys374Glu US - - ENG P17813 VAR_070295 p.Cys394Tyr LP/P rs1830434129 Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070296 p.Met414Arg US - - ENG P17813 VAR_070297 p.Arg437Trp LP/P rs1434169817 Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070298 p.Leu490Ser LP/P rs763475207 Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070299 p.Arg529His LP/P rs863223538 Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070300 p.Arg529Pro LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070301 p.Gly545Asp LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070302 p.Gly545Ser LB/B rs142896669 - ENG P17813 VAR_070303 p.Leu547Pro LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070304 p.Cys549Tyr US rs1060501421 - ENG P17813 VAR_070305 p.Asp561Ala LB/B rs375965489 - ENG P17813 VAR_070306 p.Gly603Arg LP/P rs1830302008 Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENG P17813 VAR_070307 p.Ala604Asp LP/P - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] ENGASE Q8NFI3 VAR_060188 p.Ser596Asn LB/B rs4789879 - ENGASE Q8NFI3 VAR_060189 p.Glu731Lys LB/B rs11871357 - ENO1 P06733 VAR_025172 p.Asn177Lys LB/B rs11544513 - ENO1 P06733 VAR_048936 p.Pro325Gln LB/B rs11544514 - ENO2 P09104 VAR_002354 p.Pro264Ala LB/B - - ENO2 P09104 VAR_002355 p.Thr395Ala LB/B - - ENO3 P13929 VAR_020618 p.Asn71Ser LB/B rs238238 - ENO3 P13929 VAR_020619 p.Val85Ala LB/B rs238239 - ENO3 P13929 VAR_020620 p.Gly156Asp LP/P rs121918403 Glycogen storage disease 13 (GSD13) [MIM:612932] ENO3 P13929 VAR_020621 p.Gly374Glu LP/P rs121918404 Glycogen storage disease 13 (GSD13) [MIM:612932] ENOSF1 Q7L5Y1 VAR_042933 p.Asp31Glu LB/B rs34724061 - ENOSF1 Q7L5Y1 VAR_042934 p.Met145Thr LB/B rs2612086 - ENOSF1 Q7L5Y1 VAR_042935 p.Tyr428Ser LB/B rs2847620 - ENOX1 Q8TC92 VAR_052205 p.Glu16Asp LB/B rs7338624 - ENOX2 Q16206 VAR_069427 p.Val202Ile LB/B rs754363472 - ENPEP Q07075 VAR_030359 p.Gln213Arg LB/B rs10004516 - ENPEP Q07075 VAR_030360 p.Val218Ala LB/B rs1126483 - ENPEP Q07075 VAR_036047 p.Arg887Thr US - A breast cancer sample ENPEP Q07075 VAR_057056 p.Arg437His LB/B rs34949711 - ENPEP Q07075 VAR_057057 p.Ser861Arg LB/B rs35812243 - ENPP1 P22413 VAR_008873 p.Lys173Gln LB/B rs1044498 - ENPP1 P22413 VAR_014141 p.Leu91Pro LP/P - Ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475] ENPP1 P22413 VAR_014142 p.Tyr268His LB/B rs17847050 - ENPP1 P22413 VAR_014143 p.Ser287Phe LP/P rs190947144 Ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475] ENPP1 P22413 VAR_014144 p.Thr779Pro LB/B rs1805138 - ENPP1 P22413 VAR_018514 p.Leu579Phe US rs121918024 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_018515 p.Arg774Cys LB/B rs28933977 - ENPP1 P22413 VAR_037432 p.Asn179Ser LB/B rs2273411 - ENPP1 P22413 VAR_037433 p.Gly342Val LP/P rs121918025 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_037434 p.Tyr371Phe US rs121918026 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_037435 p.Arg886Thr LB/B rs8192683 - ENPP1 P22413 VAR_063719 p.Gly266Val LP/P rs121908248 Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312] ENPP1 P22413 VAR_063720 p.Tyr901Ser LP/P rs121908249 Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312] ENPP1 P22413 VAR_067910 p.Pro250Leu US rs754659608 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_067912 p.Pro305Thr LP/P rs374270497 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_067913 p.Asp538His LP/P rs387906673 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_067914 p.Gly586Arg LP/P rs777367269 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_070782 p.Cys149Ser LP/P rs397518477 Cole disease (COLED) [MIM:615522] ENPP1 P22413 VAR_070783 p.Cys164Ser LP/P rs397518476 Cole disease (COLED) [MIM:615522] ENPP1 P22413 VAR_070784 p.Cys177Tyr LP/P rs397518475 Cole disease (COLED) [MIM:615522] ENPP1 P22413 VAR_077255 p.Gly92Asp LP/P - Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312] ENPP1 P22413 VAR_077256 p.Cys126Arg LP/P - Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077257 p.Cys133Arg LP/P - Cole disease (COLED) [MIM:615522] ENPP1 P22413 VAR_077258 p.Cys177Ser LP/P - Cole disease (COLED) [MIM:615522] ENPP1 P22413 VAR_077259 p.Cys195Arg LP/P rs763457176 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077260 p.Cys195Ser LP/P - Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077261 p.Ser216Tyr US rs760786509 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077262 p.Asp218Val LP/P rs1231182870 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077263 p.Gly219Arg US - Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312] ENPP1 P22413 VAR_077264 p.Gly242Glu US - Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077265 p.Asp276Asn US rs143771474 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077266 p.Tyr301Cys LP/P - Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077267 p.Arg349Lys US rs764735802 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077268 p.Arg456Gln LP/P rs765071179 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077269 p.Tyr471Cys LP/P rs148462924 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077270 p.Arg481Trp US rs373044722 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077271 p.His500Pro LP/P - Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077272 p.Ser504Arg LP/P - Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077273 p.Tyr513Cys LP/P rs1243920034 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077274 p.Tyr570Cys LP/P rs140248167 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077275 p.Leu611Val LB/B rs79079368 - ENPP1 P22413 VAR_077276 p.Tyr659Cys LP/P rs143393727 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077277 p.Glu668Lys LB/B rs115371819 - ENPP1 P22413 VAR_077278 p.Cys726Arg LP/P - Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077279 p.His777Arg LP/P rs147346173 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077280 p.Asn792Ser LP/P rs370184526 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077280 p.Asn792Ser LP/P rs370184526 Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312] ENPP1 P22413 VAR_077281 p.Asp804His LP/P - Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_077282 p.Arg821His LB/B rs367759638 - ENPP1 P22413 VAR_077283 p.Arg888Trp LP/P rs184483616 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_081644 p.Cys120Arg LP/P - Cole disease (COLED) [MIM:615522] ENPP2 Q13822 VAR_057472 p.Asn577Ser LB/B rs2289886 - ENPP2 Q13822 VAR_057473 p.Ser726Leu LB/B rs16892767 - ENPP2 Q13822 VAR_060469 p.Ser493Pro LB/B rs10283100 - ENPP3 O14638 VAR_018516 p.Val620Met LB/B rs9321309 - ENPP3 O14638 VAR_031253 p.Ser786Asn LB/B rs17601580 - ENPP3 O14638 VAR_046538 p.Asn744His LB/B rs36094194 - ENPP4 Q9Y6X5 VAR_039884 p.His144Gln LB/B rs7451713 - ENPP4 Q9Y6X5 VAR_039885 p.Ile255Val LB/B rs9381429 - ENPP4 Q9Y6X5 VAR_039886 p.Ser439Ala LB/B rs16874289 - ENPP5 Q9UJA9 VAR_020248 p.Leu6Ile LB/B rs3806995 - ENPP5 Q9UJA9 VAR_024693 p.Ile171Val LB/B rs6926570 - ENPP5 Q9UJA9 VAR_033918 p.Arg39Pro LB/B rs34109856 - ENPP5 Q9UJA9 VAR_052940 p.Ile69Val LB/B rs34432940 - ENPP5 Q9UJA9 VAR_052941 p.Tyr283Cys LB/B rs16874326 - ENPP6 Q6UWR7 VAR_026644 p.Ser419Gly LB/B rs4479748 - ENPP6 Q6UWR7 VAR_052942 p.Asp357Asn LB/B rs4488969 - ENPP7 Q6UWV6 VAR_021506 p.Pro4Leu LB/B rs8074547 - ENTHD1 Q8IYW4 VAR_037449 p.Ile109Thr LB/B rs17319801 - ENTPD1 P49961 VAR_022099 p.Val293Ile LB/B rs3793744 - ENTPD1 P49961 VAR_071082 p.Gly210Arg LP/P rs1566229309 Spastic paraplegia 64, autosomal recessive (SPG64) [MIM:615683] ENTPD2 Q9Y5L3 VAR_050307 p.Ala103Val LB/B rs34618694 - ENTPD3 O75355 VAR_027541 p.Glu440Asp LB/B rs4470483 - ENTPD3 O75355 VAR_027542 p.Ala496Val LB/B rs1047855 - ENTPD3 O75355 VAR_027543 p.Leu505Phe LB/B rs3733167 - ENTPD3 O75355 VAR_061384 p.Arg264Gln LB/B rs34266806 - ENTPD3 O75355 VAR_070813 p.Ile24Val LB/B rs17852714 - ENTPD4 Q9Y227 VAR_020444 p.Lys354Glu LB/B rs2272641 - ENTPD4 Q9Y227 VAR_064711 p.Ile341Val LB/B rs549468877 - ENTPD5 O75356 VAR_050308 p.Lys314Arg LB/B rs17094434 - ENTPD6 O75354 VAR_017863 p.Leu138Val LB/B rs1044567 - ENTPD6 O75354 VAR_027812 p.Ser14Asn LB/B rs2076559 - ENTPD6 O75354 VAR_027813 p.Lys202Glu LB/B rs6050446 - ENTPD6 O75354 VAR_027814 p.Ser323Asn LB/B rs6138541 - ENTPD6 O75354 VAR_050309 p.Arg157Gln LB/B rs34007133 - ENTPD7 Q9NQZ7 VAR_030287 p.Val276Ala LB/B rs11190245 - ENTPD8 Q5MY95 VAR_035339 p.Leu62Pro LB/B rs6606582 - ENTPD8 Q5MY95 VAR_061385 p.Glu428Lys LB/B rs61491031 - ENTR1 Q96C92 VAR_039687 p.Leu157Val LB/B rs7047681 - ENTR1 Q96C92 VAR_039688 p.Glu176Gly LB/B rs17851182 - ENTR1 Q96C92 VAR_039689 p.Arg304Gln LB/B rs3812577 - ENTR1 Q96C92 VAR_039690 p.Val379Met LB/B rs1131992 - ENTR1 Q96C92 VAR_039691 p.Val428Ile LB/B rs17855450 - ENTREP1 Q15884 VAR_047364 p.Thr233Ile LB/B rs35386391 - ENTREP1 Q15884 VAR_050823 p.Arg261Lys LB/B rs11138396 - ENTREP2 O60320 VAR_039544 p.His375Arg LB/B rs2256277 - ENTREP2 O60320 VAR_039545 p.Arg393His LB/B rs2256273 - ENTREP2 O60320 VAR_059333 p.Gly228Ser LB/B rs2292628 - ENTREP2 O60320 VAR_059334 p.Gly314Asp LB/B rs2306933 - ENTREP2 O60320 VAR_059335 p.Val431Ala LB/B rs2279482 - ENTREP3 P81408 VAR_035684 p.Ser358Phe US - A breast cancer sample ENTREP3 P81408 VAR_037876 p.Arg549His LB/B rs2072648 - ENTREP3 P81408 VAR_056842 p.Arg646His LB/B rs2072648 - EOGT Q5NDL2 VAR_070090 p.Trp207Ser LP/P rs587776993 Adams-Oliver syndrome 4 (AOS4) [MIM:615297] EOGT Q5NDL2 VAR_070091 p.Arg377Gln LP/P rs587776995 Adams-Oliver syndrome 4 (AOS4) [MIM:615297] EOMES O95936 VAR_036069 p.Glu667Gln US - A breast cancer sample EOMES O95936 VAR_059827 p.Ala120Gly LB/B rs1874198 - EP300 Q09472 VAR_014428 p.Leu827Pro US - A breast cancer sample EP300 Q09472 VAR_014429 p.Glu1013Gly US rs1234168115 A breast cancer sample EP300 Q09472 VAR_014430 p.Ser1650Tyr US - A pancreatic cancer sample EP300 Q09472 VAR_014431 p.Pro2221Gln US rs28937578 A colorectal cancer sample EP300 Q09472 VAR_020425 p.Ile997Val LB/B rs20551 - EP300 Q09472 VAR_038376 p.Thr2174Ser LB/B rs5758252 - EP300 Q09472 VAR_038377 p.Gln2223Pro LB/B rs1046088 - EP300 Q09472 VAR_055554 p.Met289Val LB/B rs2230111 - EP300 Q09472 VAR_074021 p.Asn1511Ile LB/B - - EP300 Q09472 VAR_080731 p.Gln2007Arg US rs763892493 - EP300 Q09472 VAR_081986 p.Gln1824Pro LP/P rs1569120903 Menke-Hennekam syndrome 2 (MKHK2) [MIM:618333] EP400 Q96L91 VAR_046957 p.Thr1308Ile LB/B rs13377636 - EPAS1 Q99814 VAR_042443 p.Gly537Trp LP/P rs137853036 Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] EPAS1 Q99814 VAR_061261 p.Thr766Pro LB/B rs59901247 - EPAS1 Q99814 VAR_061262 p.Pro785Thr LB/B rs61518065 - EPAS1 Q99814 VAR_067358 p.Pro534Leu LP/P - Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] EPAS1 Q99814 VAR_067359 p.Met535Thr LP/P - Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] EPAS1 Q99814 VAR_067360 p.Met535Val LP/P rs137853037 Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] EPAS1 Q99814 VAR_067361 p.Gly537Arg LP/P rs137853036 Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] EPAS1 Q99814 VAR_067362 p.Phe540Leu LP/P - Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] EPB41 P11171 VAR_009122 p.Val214Ile LB/B rs111642750 - EPB41L1 Q9H4G0 VAR_066600 p.Pro854Ser LP/P rs1569376434 Intellectual developmental disorder, autosomal dominant 11 (MRD11) [MIM:614257] EPB41L2 O43491 VAR_020145 p.Gln17His LB/B rs2297852 - EPB41L3 Q9Y2J2 VAR_048353 p.Ala555Thr LB/B rs9966357 - EPB41L3 Q9Y2J2 VAR_048354 p.Tyr575Cys LB/B rs8082898 - EPB41L3 Q9Y2J2 VAR_048355 p.Glu859Gln LB/B rs8096452 - EPB41L4A Q9HCS5 VAR_055537 p.Val132Ile LB/B rs34008454 - EPB41L4B Q9H329 VAR_048356 p.Asn816Thr LB/B rs3750450 - EPB41L5 Q9HCM4 VAR_042699 p.Ala462Thr LB/B rs1034489 - EPB41L5 Q9HCM4 VAR_048357 p.His334Tyr LB/B rs28930677 - EPB42 P16452 VAR_007482 p.Ala112Thr LP/P rs104894487 Spherocytosis 5 (SPH5) [MIM:612690] EPB42 P16452 VAR_012268 p.Arg280Gln LP/P rs121917734 Spherocytosis 5 (SPH5) [MIM:612690] EPB42 P16452 VAR_058099 p.Asp145Tyr LP/P rs143682977 Spherocytosis 5 (SPH5) [MIM:612690] EPB42 P16452 VAR_058100 p.Arg287Cys LP/P rs515726212 Spherocytosis 5 (SPH5) [MIM:612690] EPC1 Q9H2F5 VAR_074181 p.Val123Leu LB/B - - EPCAM P16422 VAR_018329 p.Met115Thr LB/B rs1126497 - EPCAM P16422 VAR_063829 p.Cys66Tyr LP/P rs267606785 Diarrhea 5, with tufting enteropathy, congenital (DIAR5) [MIM:613217] EPG5 Q9HCE0 VAR_035278 p.Glu844Asp LB/B rs3744999 - EPG5 Q9HCE0 VAR_035279 p.Val1058Ala LB/B rs3744998 - EPG5 Q9HCE0 VAR_035280 p.Ile1131Val LB/B rs3744997 - EPG5 Q9HCE0 VAR_035281 p.Ala1511Val LB/B rs1893523 - EPG5 Q9HCE0 VAR_035282 p.Ser1864Asn LB/B rs34064739 - EPG5 Q9HCE0 VAR_035283 p.Arg1985Gln LB/B rs34674177 - EPG5 Q9HCE0 VAR_036525 p.Ala1511Thr US - A breast cancer sample EPG5 Q9HCE0 VAR_036526 p.Cys1865Tyr US rs1272061911 A breast cancer sample EPG5 Q9HCE0 VAR_036527 p.Arg2056Trp US rs116076204 A breast cancer sample EPG5 Q9HCE0 VAR_062210 p.Lys182Glu LB/B rs59422275 - EPG5 Q9HCE0 VAR_069224 p.Gln336Arg LP/P rs201757275 Vici syndrome (VICIS) [MIM:242840] EPG5 Q9HCE0 VAR_081372 p.Leu457Pro US rs746862679 Vici syndrome (VICIS) [MIM:242840] EPG5 Q9HCE0 VAR_081373 p.Gln784Pro US rs754795342 Vici syndrome (VICIS) [MIM:242840] EPG5 Q9HCE0 VAR_081376 p.Gly1336Glu US rs1085308061 Vici syndrome (VICIS) [MIM:242840] EPG5 Q9HCE0 VAR_081380 p.Pro1827Ala LP/P rs1568118775 Vici syndrome (VICIS) [MIM:242840] EPG5 Q9HCE0 VAR_081385 p.Cys2038Arg US rs375057925 Vici syndrome (VICIS) [MIM:242840] EPG5 Q9HCE0 VAR_081387 p.Leu2092Pro US rs1568104317 Vici syndrome (VICIS) [MIM:242840] EPG5 Q9HCE0 VAR_081388 p.Glu2414Lys US rs1568094451 Vici syndrome (VICIS) [MIM:242840] EPHA1 P21709 VAR_028265 p.Val160Ala LB/B rs4725617 - EPHA1 P21709 VAR_028266 p.Arg492Gln LB/B rs11768549 - EPHA1 P21709 VAR_028267 p.Met900Val LB/B rs6967117 - EPHA1 P21709 VAR_042115 p.Arg351Cys LB/B rs56006153 - EPHA1 P21709 VAR_042116 p.Arg575Gln LB/B rs35719334 - EPHA1 P21709 VAR_042117 p.Ala585Thr LB/B rs34178823 - EPHA1 P21709 VAR_042118 p.Pro697Leu LB/B rs34372369 - EPHA1 P21709 VAR_042119 p.Glu703Lys US - A breast pleomorphic lobular carcinoma sample EPHA1 P21709 VAR_042120 p.Ser807Arg LB/B rs56244405 - EPHA10 Q5JZY3 VAR_042159 p.Arg150His US rs771803475 A gastric adenocarcinoma sample EPHA10 Q5JZY3 VAR_042160 p.Thr220Lys LB/B rs56276182 - EPHA10 Q5JZY3 VAR_042161 p.Phe281Ile LB/B rs4653328 - EPHA10 Q5JZY3 VAR_042162 p.Leu630Pro LB/B - - EPHA10 Q5JZY3 VAR_042163 p.His775Arg US - A breast infiltrating ductal carcinoma sample EPHA10 Q5JZY3 VAR_042164 p.Ala956Thr LB/B - - EPHA10 Q5JZY3 VAR_055992 p.Val103Leu LB/B rs34557762 - EPHA10 Q5JZY3 VAR_055993 p.Leu629Pro LB/B rs17511304 - EPHA10 Q5JZY3 VAR_055994 p.Val645Ile LB/B rs12405650 - EPHA10 Q5JZY3 VAR_055995 p.Gly749Glu LB/B rs6671088 - EPHA10 Q5JZY3 VAR_055996 p.Arg807Gln LB/B rs6670599 - EPHA2 P29317 VAR_042121 p.Gly391Arg LB/B rs34192549 - EPHA2 P29317 VAR_042122 p.Thr511Met LB/B rs55747232 - EPHA2 P29317 VAR_042123 p.Arg568His LB/B rs56198600 - EPHA2 P29317 VAR_042124 p.Gly777Ser US rs922655349 A gastric adenocarcinoma sample EPHA2 P29317 VAR_042125 p.Arg876His LB/B rs35903225 - EPHA2 P29317 VAR_055989 p.Lys99Asn LB/B rs1058372 - EPHA2 P29317 VAR_055990 p.Met631Thr LB/B rs34021505 - EPHA2 P29317 VAR_058907 p.Thr940Ile LP/P rs137853200 Cataract 6, multiple types (CTRCT6) [MIM:116600] EPHA2 P29317 VAR_058908 p.Gly948Trp LP/P rs137853199 Cataract 6, multiple types (CTRCT6) [MIM:116600] EPHA2 P29317 VAR_062532 p.Arg721Gln LP/P rs116506614 Cataract 6, multiple types (CTRCT6) [MIM:116600] EPHA3 P29320 VAR_027919 p.Arg914His LB/B rs17801309 - EPHA3 P29320 VAR_036086 p.Thr37Lys US - A colorectal cancer sample EPHA3 P29320 VAR_036087 p.Asn85Ser US - A colorectal cancer sample EPHA3 P29320 VAR_036088 p.Ile621Leu US rs1414714315 A colorectal cancer sample EPHA3 P29320 VAR_036089 p.Asp806Asn US - A colorectal cancer sample EPHA3 P29320 VAR_042126 p.Ser229Tyr US - A lung large cell carcinoma sample EPHA3 P29320 VAR_042127 p.Ser449Phe US - A lung neuroendocrine carcinoma sample EPHA3 P29320 VAR_042128 p.Gly518Leu US - A lung squamous cell carcinoma sample EPHA3 P29320 VAR_042129 p.Ile564Val LB/B rs55712516 - EPHA3 P29320 VAR_042130 p.Cys568Ser LB/B rs56077781 - EPHA3 P29320 VAR_042131 p.Leu590Pro LB/B rs56081642 - EPHA3 P29320 VAR_042132 p.Gly766Glu US - A lung adenocarcinoma sample EPHA3 P29320 VAR_042133 p.Ala777Gly LB/B rs34437982 - EPHA3 P29320 VAR_042134 p.Trp924Arg LB/B rs35124509 - EPHA3 P29320 VAR_065831 p.Thr660Lys US - A lung carcinoma sample EPHA3 P29320 VAR_065832 p.Thr933Met US rs372594677 A lung carcinoma sample EPHA3 P29320 VAR_068853 p.Lys207Asn US rs200567888 A pancreatic ductal adenocarcinoma sample EPHA4 P54764 VAR_042135 p.Arg269Gln LB/B rs35084379 - EPHA4 P54764 VAR_042136 p.Gly370Glu US rs756952113 A bladder carcinoma NOS sample EPHA4 P54764 VAR_042137 p.Ser399Phe US rs868224085 A metastatic melanoma sample EPHA4 P54764 VAR_049721 p.Arg953Lys LB/B rs35341687 - EPHA5 P54756 VAR_042138 p.Asn81Thr LB/B rs33932471 - EPHA5 P54756 VAR_042139 p.Ser235Ala LB/B rs55710198 - EPHA5 P54756 VAR_042140 p.Glu330Gln LB/B rs56205382 - EPHA5 P54756 VAR_042141 p.Arg417Gln US rs199614818 A lung adenocarcinoma sample EPHA5 P54756 VAR_042142 p.Glu503Lys US - A lung large cell carcinoma sample EPHA5 P54756 VAR_042143 p.Gly582Glu US rs1057520012 A lung adenocarcinoma sample EPHA5 P54756 VAR_042144 p.Ala672Thr LB/B rs36050417 - EPHA5 P54756 VAR_042145 p.Ser673Thr LB/B rs56359290 - EPHA5 P54756 VAR_042146 p.Thr856Ile US - A lung squamous cell carcinoma sample EPHA5 P54756 VAR_042147 p.His959Arg LB/B rs56312931 - EPHA5 P54756 VAR_042148 p.Asn1032Ser US - A lung large cell carcinoma sample EPHA5 P54756 VAR_045912 p.Tyr506Cys LB/B rs56074660 - EPHA6 Q9UF33 VAR_042149 p.Phe704Ser LB/B - - EPHA6 Q9UF33 VAR_055991 p.Ala711Val LB/B rs4857276 - EPHA7 Q15375 VAR_022105 p.Ile138Val LB/B rs2278107 - EPHA7 Q15375 VAR_022106 p.Pro278Ser LB/B rs2278106 - EPHA7 Q15375 VAR_036090 p.Arg371Trp US rs371089003 A colorectal cancer sample EPHA7 Q15375 VAR_042150 p.Glu170Lys US - A colorectal adenocarcinoma sample EPHA7 Q15375 VAR_042151 p.Gly232Arg US - A metastatic melanoma sample EPHA7 Q15375 VAR_042152 p.Pro903Ser US - A metastatic melanoma sample EPHA8 P29322 VAR_022107 p.Val444Met LB/B rs2295021 - EPHA8 P29322 VAR_024514 p.Glu612Gln LB/B rs999765 - EPHA8 P29322 VAR_042153 p.Gly45Ser LB/B rs45498698 - EPHA8 P29322 VAR_042154 p.Val60Leu LB/B rs56402644 - EPHA8 P29322 VAR_042155 p.Asn123Lys US - A breast infiltrating ductal carcinoma sample EPHA8 P29322 VAR_042156 p.Arg179Cys US rs1557556639 A gastric adenocarcinoma sample EPHA8 P29322 VAR_042157 p.Arg198Leu US - A lung adenocarcinoma sample EPHA8 P29322 VAR_042158 p.Pro860Leu US - A metastatic melanoma sample EPHA8 P29322 VAR_061292 p.Pro321Leu LB/B rs56656925 - EPHB1 P54762 VAR_011801 p.Thr87Ser LB/B rs1042794 - EPHB1 P54762 VAR_011802 p.Gly152Arg LB/B rs1042793 - EPHB1 P54762 VAR_011803 p.Arg367Gly LB/B rs1042789 - EPHB1 P54762 VAR_011804 p.Arg485Ser LB/B rs1042788 - EPHB1 P54762 VAR_011805 p.Met847Thr LB/B rs1042785 - EPHB1 P54762 VAR_042165 p.Met18Val LB/B rs55650774 - EPHB1 P54762 VAR_042166 p.Thr387Met LB/B rs56396912 - EPHB1 P54762 VAR_042167 p.Ser707Thr US - An ovarian undifferentiated carcinoma sample EPHB1 P54762 VAR_042168 p.Ile719Val US - A gastric adenocarcinoma sample EPHB1 P54762 VAR_042169 p.Arg743Gln US rs1338928289 A gastric adenocarcinoma sample EPHB1 P54762 VAR_042170 p.Ala912Thr LB/B rs56345346 - EPHB1 P54762 VAR_042171 p.Thr981Met LB/B rs56186270 - EPHB1 P54762 VAR_058479 p.Arg973Trp LB/B rs1042784 - EPHB2 P29323 VAR_032853 p.Arg199His LP/P rs201754821 Prostate cancer (PC) [MIM:176807] EPHB2 P29323 VAR_032854 p.Ala279Ser LP/P rs35882952 Prostate cancer (PC) [MIM:176807] EPHB2 P29323 VAR_032855 p.Val650Ala LP/P rs142173175 Prostate cancer (PC) [MIM:176807] EPHB2 P29323 VAR_032856 p.His679Asn LP/P - Prostate cancer (PC) [MIM:176807] EPHB2 P29323 VAR_032857 p.Met883Val LP/P rs372653137 Prostate cancer (PC) [MIM:176807] EPHB2 P29323 VAR_032858 p.Ile909Met LP/P - Prostate cancer (PC) [MIM:176807] EPHB2 P29323 VAR_042172 p.Cys289Gly LB/B - - EPHB2 P29323 VAR_042173 p.Ile361Val LB/B rs56180036 - EPHB2 P29323 VAR_042174 p.Asp678Asn LB/B rs28936395 - EPHB2 P29323 VAR_042175 p.Arg844Trp LB/B rs55826626 - EPHB2 P29323 VAR_082702 p.Arg745Cys LP/P rs761749948 Bleeding disorder, platelet-type, 22 (BDPLT22) [MIM:618462] EPHB3 P54753 VAR_042176 p.Arg168Leu US - A lung small cell carcinoma sample EPHB3 P54753 VAR_042177 p.Arg440Cys LB/B rs56029711 - EPHB3 P54753 VAR_042178 p.Ile579Val LB/B rs56103851 - EPHB3 P54753 VAR_042179 p.Ile601Leu LB/B rs56129875 - EPHB3 P54753 VAR_042180 p.Arg724Trp US rs371378866 A lung neuroendocrine carcinoma sample EPHB4 P54760 VAR_042181 p.Pro67Leu LB/B rs34653459 - EPHB4 P54760 VAR_042182 p.Val113Ile LB/B rs55866373 - EPHB4 P54760 VAR_042183 p.Pro346Leu US rs267601191 A metastatic melanoma sample EPHB4 P54760 VAR_042184 p.Ala371Val LB/B rs55720981 - EPHB4 P54760 VAR_042185 p.Asp576Glu LB/B rs36050247 - EPHB4 P54760 VAR_042186 p.Arg678His LB/B rs55692440 - EPHB4 P54760 VAR_042187 p.Ala882Thr LB/B rs34918225 - EPHB4 P54760 VAR_042188 p.Arg889Trp US rs762016655 A gastric adenocarcinoma sample EPHB4 P54760 VAR_042189 p.Glu890Asp LB/B rs35638378 - EPHB4 P54760 VAR_071163 p.Lys162Arg LB/B rs17854760 - EPHB4 P54760 VAR_078063 p.Arg739Gln LP/P rs1057519263 Lymphatic malformation 7 (LMPHM7) [MIM:617300] EPHB4 P54760 VAR_078064 p.Ile782Ser LP/P rs1057519264 Lymphatic malformation 7 (LMPHM7) [MIM:617300] EPHB4 P54760 VAR_081689 p.Glu59Lys US rs1584667224 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081690 p.Arg74Pro US rs61735971 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081691 p.Cys107Arg US rs1562974383 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081695 p.Leu187Pro US rs1584666053 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081697 p.Cys268Arg US rs201816920 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081701 p.Val469Gly US rs1584662591 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081702 p.Ala509Gly LB/B rs146937374 - EPHB4 P54760 VAR_081703 p.Gly516Arg US rs776305185 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081706 p.Lys650Asn LP/P rs1584658113 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081707 p.Arg656Trp US rs745584371 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081708 p.Glu664Lys LP/P rs1562969219 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081709 p.Ala725Thr US rs1159930961 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081711 p.Asn745Asp LP/P rs1584654433 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081712 p.Pro789Arg US rs753075600 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081713 p.Pro789Ser US rs1417508111 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081714 p.Asp802Gly LP/P rs776410552 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081716 p.Gly807Arg US rs1330628156 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081717 p.Pro820Leu US rs1584653650 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081718 p.Pro820Thr US rs1584653653 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081719 p.Arg838Trp LP/P rs764827256 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081720 p.Cys845Arg LP/P rs1584653054 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081721 p.Cys856Tyr LP/P rs1584653005 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081722 p.Arg864Trp LP/P rs769965440 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081723 p.Phe867Leu LP/P rs1584652949 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081724 p.Val870Glu US rs1584652920 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB4 P54760 VAR_081725 p.Leu874Pro US rs1584652900 Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196] EPHB6 O15197 VAR_019139 p.Gly122Ser LB/B rs8177173 - EPHB6 O15197 VAR_019140 p.Pro282Arg LB/B rs8177143 - EPHB6 O15197 VAR_019141 p.Ser324Ala LB/B rs8177146 - EPHB6 O15197 VAR_019142 p.Arg499Gln LB/B rs8177175 - EPHB6 O15197 VAR_036091 p.Asp360Asn US - A colorectal cancer sample EPHB6 O15197 VAR_036092 p.Ala603Pro US - A colorectal cancer sample EPHB6 O15197 VAR_036093 p.Arg719Gln US - A colorectal cancer sample EPHB6 O15197 VAR_036094 p.Asp930Gly US - A colorectal cancer sample EPHB6 O15197 VAR_042190 p.Ser170Thr LB/B - - EPHB6 O15197 VAR_042191 p.Ala221Val LB/B - - EPHB6 O15197 VAR_042192 p.Pro282His LB/B - - EPHB6 O15197 VAR_042193 p.Arg309Gln LB/B rs55728646 - EPHB6 O15197 VAR_042194 p.Ser332Leu LB/B rs35189999 - EPHB6 O15197 VAR_042195 p.Ala662Val LB/B rs35984674 - EPHB6 O15197 VAR_042196 p.Pro743Ser US - An ovarian mucinous carcinoma sample EPHB6 O15197 VAR_042197 p.Arg813His LB/B - - EPHB6 O15197 VAR_042198 p.Glu875Lys US - A glioblastoma multiforme sample EPHB6 O15197 VAR_042199 p.Ile993Val LB/B - - EPHX1 P07099 VAR_005295 p.Tyr113His LB/B rs1051740 - EPHX1 P07099 VAR_005296 p.His139Arg LB/B rs2234922 - EPHX1 P07099 VAR_005297 p.Thr396Ile US - - EPHX1 P07099 VAR_013298 p.Arg49Cys LB/B rs2234697 - EPHX1 P07099 VAR_013299 p.Leu260Pro LB/B - - EPHX1 P07099 VAR_013300 p.Arg454Gln LB/B rs2234701 - EPHX1 P07099 VAR_018347 p.Glu44Gln LB/B rs745306359 - EPHX1 P07099 VAR_023303 p.Arg43Thr LB/B rs3738046 - EPHX1 P07099 VAR_023304 p.Val285Leu LB/B rs45449793 - EPHX1 P07099 VAR_023305 p.Thr408Met LB/B rs45495897 - EPHX1 P07099 VAR_023306 p.Leu452Gln LB/B rs45563137 - EPHX1 P07099 VAR_051828 p.Thr275Ala LB/B rs35073925 - EPHX2 P34913 VAR_014852 p.Arg287Gln LB/B rs751141 - EPHX2 P34913 VAR_033991 p.Arg103Cys LB/B rs17057255 - EPHX2 P34913 VAR_051059 p.Lys55Arg LB/B rs41507953 - EPHX2 P34913 VAR_055392 p.Gly21Ala LB/B rs72473930 - EPHX2 P34913 VAR_055393 p.Arg52Gln LB/B rs72475803 - EPHX2 P34913 VAR_055394 p.Cys154Tyr LB/B rs57699806 - EPHX2 P34913 VAR_055395 p.Pro225Leu LB/B rs72475821 - EPHX2 P34913 VAR_055396 p.Met369Val LB/B rs72475894 - EPHX2 P34913 VAR_055397 p.Glu470Gly LB/B rs68053459 - EPHX4 Q8IUS5 VAR_031235 p.Tyr321Phe LB/B rs17854127 - EPM2A O95278 VAR_019465 p.Ser25Pro LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019466 p.Glu28Lys LP/P rs1776816199 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019467 p.Trp32Gly LP/P rs104893955 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019468 p.Ala46Pro LB/B rs374338349 - EPM2A O95278 VAR_019469 p.Phe84Leu LP/P rs1362231306 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019470 p.Phe88Leu LP/P rs1034706422 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019471 p.Arg91Pro LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019472 p.Arg108Cys LP/P rs137852915 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019473 p.Glu114Asp LB/B - - EPM2A O95278 VAR_019474 p.Arg171His LP/P rs137852916 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019475 p.Thr187Ala LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019476 p.Thr194Ile LP/P rs375544596 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019477 p.Gly240Ser LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019478 p.Gly279Ser LP/P rs137852917 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019479 p.Gln293Leu LP/P rs796052427 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019480 p.Tyr294Asn LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019481 p.Pro301Leu LP/P rs796052428 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_046383 p.Lys140Asn LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_046384 p.Asn148Tyr LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_046385 p.Glu210Lys LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_046386 p.Leu310Trp LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] EPM2AIP1 Q7L775 VAR_050969 p.Val333Phe LB/B rs4647202 - EPM2AIP1 Q7L775 VAR_050970 p.Ala360Ser LB/B rs4647201 - EPN2 O95208 VAR_047923 p.Pro531Thr LB/B rs1062727 - EPN2 O95208 VAR_053080 p.Val401Ala LB/B rs6587220 - EPN2 O95208 VAR_053081 p.Pro532Thr LB/B rs1062727 - EPN3 Q9H201 VAR_059973 p.Pro544Thr LB/B rs4794159 - EPO P01588 VAR_009871 p.Pro149Gln US - A hepatocellular carcinoma EPO P01588 VAR_078447 p.Arg177Gln LP/P rs1358275550 Diamond-Blackfan anemia-like (DBAL) [MIM:617911] EPO P01588 VAR_080573 p.Asp70Asn US rs62483572 Erythrocytosis, familial, 5 (ECYT5) [MIM:617907] EPO P01588 VAR_080574 p.Gly84Arg US rs137953994 Erythrocytosis, familial, 5 (ECYT5) [MIM:617907] EPO P01588 VAR_080575 p.Glu99Gly US - - EPO P01588 VAR_080576 p.Pro114Leu US rs11976235 Erythrocytosis, familial, 5 (ECYT5) [MIM:617907] EPO P01588 VAR_080577 p.Ser147Cys US rs149431976 Erythrocytosis, familial, 5 (ECYT5) [MIM:617907] EPOR P19235 VAR_027372 p.Asn487Ser US rs62638745 Erythroleukemia EPOR P19235 VAR_027372 p.Asn487Ser LP/P rs62638745 Erythrocytosis, familial, 1 (ECYT1) [MIM:133100] EPOR P19235 VAR_027373 p.Pro488Ser LB/B rs142094773 - EPOR P19235 VAR_033919 p.Pro380Ala LB/B rs35423344 - EPPIN O95925 VAR_024696 p.His92Arg LB/B rs2231838 - EPPIN O95925 VAR_052950 p.Lys128Thr LB/B rs2231839 - EPPK1 P58107 VAR_081533 p.Ser1094Asn US - - EPRS1 P07814 VAR_037288 p.Ala296Pro LB/B rs35999099 - EPRS1 P07814 VAR_037289 p.Asp308Glu LB/B rs2230301 - EPRS1 P07814 VAR_037290 p.Gln334His LB/B rs1063236 - EPRS1 P07814 VAR_037291 p.Pro893His LB/B rs5030751 - EPRS1 P07814 VAR_037292 p.Ile1043Val LB/B rs5030752 - EPRS1 P07814 VAR_037293 p.Ser1107Phe LB/B rs12144752 - EPRS1 P07814 VAR_037294 p.Thr1399Asn LB/B rs34559775 - EPRS1 P07814 VAR_057358 p.Glu913Gly LB/B rs2230302 - EPRS1 P07814 VAR_080801 p.Pro1115Arg LP/P rs1288116010 Leukodystrophy, hypomyelinating, 15 (HLD15) [MIM:617951] EPRS1 P07814 VAR_080802 p.Met1126Thr US rs1474000585 Leukodystrophy, hypomyelinating, 15 (HLD15) [MIM:617951] EPRS1 P07814 VAR_080803 p.Pro1160Ser US rs898824971 Leukodystrophy, hypomyelinating, 15 (HLD15) [MIM:617951] EPS15 P42566 VAR_016142 p.Ile822Met LB/B rs17567 - EPS8 Q12929 VAR_050971 p.Asp761Glu LB/B rs7137185 - EPS8 Q12929 VAR_050972 p.Ala806Ser LB/B rs1802658 - EPS8L1 Q8TE68 VAR_056870 p.Gln457Glu LB/B rs1628576 - EPS8L1 Q8TE68 VAR_060375 p.Ala4Thr LB/B rs12609976 - EPS8L1 Q8TE68 VAR_060376 p.Arg288Gly LB/B rs1620074 - EPS8L1 Q8TE68 VAR_060377 p.Lys669Arg LB/B rs1054940 - EPS8L1 Q8TE68 VAR_061647 p.Leu703Pro LB/B rs60073068 - EPS8L3 Q8TE67 VAR_026580 p.Gly163Ser LB/B rs6693815 - EPS8L3 Q8TE67 VAR_026581 p.His293Tyr LB/B rs3818562 - EPS8L3 Q8TE67 VAR_026582 p.Pro356Ser LB/B rs11102001 - EPS8L3 Q8TE67 VAR_050976 p.Met35Ile LB/B rs17598321 - EPS8L3 Q8TE67 VAR_050977 p.Arg581Gln LB/B rs35072794 - EPS8L3 Q8TE67 VAR_083829 p.Ala8Thr US rs1650987435 Hypotrichosis 5 (HYPT5) [MIM:612841] EPX P11678 VAR_015376 p.Arg286His LP/P rs121434566 Eosinophil peroxidase deficiency (EPXD) [MIM:261500] EPX P11678 VAR_020031 p.Asn572Tyr LB/B rs2302311 - EPX P11678 VAR_025138 p.Ile40Met LB/B rs11079339 - EPX P11678 VAR_025139 p.Gln122His LB/B rs11652709 - EPX P11678 VAR_025140 p.Ala249Glu LB/B rs35896669 - EPX P11678 VAR_025141 p.Lys276Arg LB/B rs35074452 - EPX P11678 VAR_025142 p.Pro292Leu LB/B rs33971258 - EPX P11678 VAR_025143 p.Arg326Pro LB/B rs35832094 - EPX P11678 VAR_025144 p.Pro358Leu LB/B rs35135976 - EPX P11678 VAR_025145 p.Arg364His LB/B rs35232062 - EPX P11678 VAR_025146 p.Lys441Thr LB/B rs35750729 - EPX P11678 VAR_025147 p.His496Gln LB/B rs33955150 - EPX P11678 VAR_050485 p.Val35Ile LB/B rs34553736 - EPX P11678 VAR_050486 p.Val458Met LB/B rs34817773 - EPX P11678 VAR_060197 p.Arg326His LB/B rs35832094 - EPX P11678 VAR_060198 p.Arg326Leu LB/B - - EPYC Q99645 VAR_031595 p.Ser150Cys LB/B rs17784152 - EQTN Q9NQ60 VAR_032136 p.Asn101Asp LB/B rs12337286 - EQTN Q9NQ60 VAR_032137 p.Thr274Lys LB/B rs41305329 - EQTN Q9NQ60 VAR_056727 p.Ile110Thr LB/B rs12341576 - ERAL1 O75616 VAR_079209 p.Asn236Ile LP/P rs1131692170 Perrault syndrome 6 (PRLTS6) [MIM:617565] ERAP1 Q9NZ08 VAR_012779 p.Arg127Pro LB/B rs26653 - ERAP1 Q9NZ08 VAR_012780 p.Ile276Met LB/B rs26618 - ERAP1 Q9NZ08 VAR_012781 p.Gly346Asp LB/B rs27895 - ERAP1 Q9NZ08 VAR_012782 p.Met349Val LB/B rs2287987 - ERAP1 Q9NZ08 VAR_012783 p.Lys528Arg LB/B rs30187 - ERAP1 Q9NZ08 VAR_012784 p.Gln730Glu LB/B rs27044 - ERAP1 Q9NZ08 VAR_021555 p.Asp575Asn LB/B rs10050860 - ERAP1 Q9NZ08 VAR_021556 p.Arg725Gln LB/B rs17482078 - ERAP1 Q9NZ08 VAR_046681 p.Glu56Lys LB/B rs3734016 - ERAP1 Q9NZ08 VAR_046682 p.Asp575Gly LB/B rs6863093 - ERAP2 Q6P179 VAR_038285 p.Pro214Leu LB/B rs3733905 - ERAP2 Q6P179 VAR_038286 p.Lys392Asn LB/B rs2549782 - ERAP2 Q6P179 VAR_038287 p.Leu669Gln LB/B rs17408150 - ERAP2 Q6P179 VAR_051569 p.Leu411Arg LB/B rs34261036 - ERBB2 P04626 VAR_004077 p.Ile654Val LB/B rs1801201 - ERBB2 P04626 VAR_004078 p.Ile655Val LB/B rs1136201 - ERBB2 P04626 VAR_016317 p.Trp452Cys LB/B rs4252633 - ERBB2 P04626 VAR_016318 p.Pro1170Ala LB/B rs1058808 - ERBB2 P04626 VAR_042097 p.Leu768Ser LB/B rs56366519 - ERBB2 P04626 VAR_042098 p.Gly776Ser US rs28933369 Gastric cancer (GASC) [MIM:613659] ERBB2 P04626 VAR_042099 p.Asn857Ser US rs28933370 Ovarian cancer (OC) [MIM:167000] ERBB2 P04626 VAR_042100 p.Ala1216Asp LB/B rs55943169 - ERBB2 P04626 VAR_055432 p.Leu755Pro US rs121913469 Lung cancer (LNCR) [MIM:211980] ERBB2 P04626 VAR_055435 p.Glu914Lys US rs28933368 Glioma (GLM) [MIM:137800] ERBB2 P04626 VAR_086107 p.Ala710Val LP/P - Visceral neuropathy, familial, 2, autosomal recessive (VSCN2) [MIM:619465] ERBB3 P21860 VAR_042101 p.Ser20Tyr LB/B rs34379766 - ERBB3 P21860 VAR_042102 p.Pro30Leu LB/B rs56017157 - ERBB3 P21860 VAR_042103 p.Val104Met US rs1057519893 An ovarian mucinous carcinoma sample ERBB3 P21860 VAR_042104 p.Thr204Ile LB/B rs56107455 - ERBB3 P21860 VAR_042105 p.Arg683Trp LB/B rs56387488 - ERBB3 P21860 VAR_042106 p.Ser717Leu LB/B rs35961836 - ERBB3 P21860 VAR_042107 p.Ile744Thr LB/B rs55787439 - ERBB3 P21860 VAR_042108 p.Lys998Arg LB/B rs56259600 - ERBB3 P21860 VAR_042109 p.Ser1119Cys LB/B rs773123 - ERBB3 P21860 VAR_042110 p.Arg1127His LB/B rs2271188 - ERBB3 P21860 VAR_042111 p.Leu1177Ile LB/B rs55699040 - ERBB3 P21860 VAR_042112 p.Thr1254Lys LB/B rs55709407 - ERBB3 P21860 VAR_049710 p.Asn385Ser LB/B rs12320176 - ERBB3 P21860 VAR_049711 p.Gly1271Ser LB/B rs11171743 - ERBB3 P21860 VAR_081641 p.Ala1337Thr LP/P rs755855285 Erythroleukemia, familial (FERLK) [MIM:133180] ERBB3 P21860 VAR_086108 p.Thr787Pro LP/P - Visceral neuropathy, familial, 1, autosomal recessive (VSCN1) [MIM:243180] ERBB3 P21860 VAR_086109 p.Thr873Ser US - Visceral neuropathy, familial, 1, autosomal recessive (VSCN1) [MIM:243180] ERBB3 P21860 VAR_086110 p.Val899Met LP/P - Visceral neuropathy, familial, 1, autosomal recessive (VSCN1) [MIM:243180] ERBB3 P21860 VAR_086111 p.Gln932Arg US - Visceral neuropathy, familial, 1, autosomal recessive (VSCN1) [MIM:243180] ERBB4 Q15303 VAR_042113 p.Thr140Ile US - A colorectal adenocarcinoma sample ERBB4 Q15303 VAR_042114 p.Ser303Tyr US - A lung squamous cell carcinoma sample ERBB4 Q15303 VAR_070810 p.Arg927Gln LP/P rs397514262 Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515] ERBB4 Q15303 VAR_070811 p.Arg1275Trp LP/P rs397514263 Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515] ERBIN Q96RT1 VAR_019346 p.Ser274Leu LB/B rs3213837 - ERBIN Q96RT1 VAR_019347 p.Ser1112Leu LB/B rs3805466 - ERBIN Q96RT1 VAR_019348 p.Lys1207Glu LB/B - - ERBIN Q96RT1 VAR_028304 p.Lys746Glu LB/B rs16894812 - ERBIN Q96RT1 VAR_046673 p.Lys914Arg LB/B rs34521887 - ERBIN Q96RT1 VAR_046674 p.Gly1089Val LB/B rs35601230 - ERBIN Q96RT1 VAR_068905 p.Ala313Val LB/B rs191137999 - ERC1 Q8IUD2 VAR_051304 p.Ser50Gly LB/B rs35037408 - ERC1 Q8IUD2 VAR_051305 p.Thr1032Ala LB/B rs12319376 - ERC2 O15083 VAR_050973 p.Asn542Ser LB/B rs12488237 - ERCC1 P07992 VAR_019167 p.Ala266Thr LB/B rs3212977 - ERCC1 P07992 VAR_032776 p.Phe231Leu LP/P rs121913028 Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) [MIM:610758] ERCC2 P18074 VAR_003622 p.Arg112His LP/P rs121913020 Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2 P18074 VAR_003622 p.Arg112His LP/P rs121913020 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_003623 p.Leu461Val LP/P rs121913016 Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2 P18074 VAR_003623 p.Leu461Val LP/P rs121913016 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_003625 p.Ser541Arg LP/P rs121913019 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_003626 p.Arg616Pro LP/P rs376556895 Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2 P18074 VAR_003626 p.Arg616Pro LP/P rs376556895 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_003627 p.Gly602Asp LP/P rs771824813 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_003628 p.Gly675Arg US - - ERCC2 P18074 VAR_003630 p.Arg722Trp LP/P rs121913026 Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2 P18074 VAR_003631 p.Ala725Pro LP/P rs121913018 Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2 P18074 VAR_008187 p.Gly47Arg LP/P rs1360631927 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_008188 p.Asp234Asn LP/P rs1340806384 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_008189 p.Cys259Tyr LP/P rs370454709 Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2 P18074 VAR_008191 p.Tyr542Cys LP/P - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_008192 p.Arg601Leu LP/P rs140522180 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_008193 p.Arg616Trp LP/P rs121913024 Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756] ERCC2 P18074 VAR_008193 p.Arg616Trp LP/P rs121913024 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_008194 p.Arg658Cys LP/P rs121913021 Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2 P18074 VAR_008195 p.Arg658His LP/P rs762141272 Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2 P18074 VAR_008196 p.Asp673Gly LP/P - Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2 P18074 VAR_008197 p.Arg683Gln LP/P rs758439420 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_008198 p.Arg683Trp LP/P rs41556519 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_008199 p.Gly713Arg LP/P rs121913022 Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2 P18074 VAR_011412 p.Ile199Met LB/B rs1799791 - ERCC2 P18074 VAR_011413 p.His201Tyr LB/B rs1799792 - ERCC2 P18074 VAR_011414 p.Asp312Asn LB/B rs1799793 - ERCC2 P18074 VAR_011415 p.Arg616Cys LB/B - - ERCC2 P18074 VAR_011416 p.Lys751Gln LB/B rs13181 - ERCC2 P18074 VAR_017282 p.Thr76Ala LP/P - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_017283 p.Leu485Pro LP/P rs121913025 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_017284 p.Arg487Gly LP/P - Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2 P18074 VAR_017285 p.Arg511Gln LP/P rs772572683 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_017287 p.Arg592Pro LP/P - Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2 P18074 VAR_017288 p.Ala594Pro LP/P - Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2 P18074 VAR_017289 p.Arg601Trp LP/P rs753641926 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_017290 p.Arg658Gly LP/P - Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2 P18074 VAR_017291 p.Cys663Arg LP/P rs770367713 Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2 P18074 VAR_017292 p.Arg666Trp LP/P rs752510317 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_017293 p.Asp681Asn LP/P rs121913023 Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756] ERCC2 P18074 VAR_017293 p.Asp681Asn LP/P rs121913023 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC3 P19447 VAR_003632 p.Phe99Ser LP/P rs121913045 Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651] ERCC3 P19447 VAR_008186 p.Thr119Pro LP/P rs121913046 Trichothiodystrophy 2, photosensitive (TTD2) [MIM:616390] ERCC3 P19447 VAR_014344 p.Ser735Pro LB/B rs4150522 - ERCC3 P19447 VAR_014766 p.Lys117Arg LB/B rs1805161 - ERCC3 P19447 VAR_014767 p.Gly402Cys LB/B rs1805162 - ERCC3 P19447 VAR_017294 p.Ser704Leu LB/B rs4150521 - ERCC3 P19447 VAR_035942 p.Lys418Gln US - A breast cancer sample ERCC4 Q92889 VAR_005849 p.Gly703Asp LB/B - - ERCC4 Q92889 VAR_005850 p.Arg799Trp LP/P rs121913049 Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_008200 p.Ile225Met LP/P rs764731249 Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_008201 p.Arg454Trp LP/P - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_008202 p.Arg490Gln LP/P rs912480692 Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_008203 p.Glu502Lys LP/P - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_008204 p.Gly513Arg LP/P rs769679311 Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_008205 p.Ile529Thr LP/P - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_008206 p.Thr567Ala LP/P - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_013395 p.Pro379Ser LB/B rs1799802 - ERCC4 Q92889 VAR_013396 p.Arg415Gln LB/B rs1800067 - ERCC4 Q92889 VAR_013397 p.Arg576Thr LB/B rs1800068 - ERCC4 Q92889 VAR_013398 p.Leu608Pro LP/P - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_013399 p.Ile717Thr LB/B - - ERCC4 Q92889 VAR_013408 p.Glu875Gly LB/B rs1800124 - ERCC4 Q92889 VAR_014769 p.Ala168Val LB/B rs2020961 - ERCC4 Q92889 VAR_014770 p.Ser662Pro LB/B rs2020955 - ERCC4 Q92889 VAR_014771 p.Ile706Thr LB/B rs1800069 - ERCC4 Q92889 VAR_014772 p.Gly912Glu LB/B rs2020956 - ERCC4 Q92889 VAR_019201 p.Ile873Val LB/B rs2020957 - ERCC4 Q92889 VAR_034802 p.Arg153Pro LP/P rs121913050 XFE progeroid syndrome (XFEPS) [MIM:610965] ERCC4 Q92889 VAR_057477 p.Val33Leu LB/B rs34205098 - ERCC4 Q92889 VAR_057478 p.Ser768Phe LB/B rs12928650 - ERCC4 Q92889 VAR_057479 p.Ala860Asp LB/B rs4986933 - ERCC4 Q92889 VAR_070086 p.Leu230Pro LP/P rs397509402 Fanconi anemia complementation group Q (FANCQ) [MIM:615272] ERCC4 Q92889 VAR_070087 p.Cys236Arg LP/P rs397509403 Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) [MIM:278760] ERCC4 Q92889 VAR_070088 p.Arg589Trp LP/P rs147105770 Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) [MIM:278760] ERCC4 Q92889 VAR_070089 p.Arg689Ser LP/P rs149364215 Fanconi anemia complementation group Q (FANCQ) [MIM:615272] ERCC4 Q92889 VAR_072084 p.Arg150Cys LB/B rs145402255 - ERCC4 Q92889 VAR_072085 p.Arg267His LB/B rs143479220 - ERCC4 Q92889 VAR_072086 p.Thr621Ala LB/B rs2032331839 - ERCC4 Q92889 VAR_072087 p.Ser786Phe LP/P rs1451008479 Fanconi anemia complementation group Q (FANCQ) [MIM:615272] ERCC5 P28715 VAR_007732 p.Met254Val LB/B rs1047769 - ERCC5 P28715 VAR_007733 p.Ala792Val LP/P rs121434571 Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780] ERCC5 P28715 VAR_007734 p.Asp1104His LB/B rs17655 - ERCC5 P28715 VAR_014829 p.Ser311Cys LB/B rs2307491 - ERCC5 P28715 VAR_015280 p.Pro72His LP/P rs121434574 Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780] ERCC5 P28715 VAR_017096 p.Ala874Thr LP/P rs121434576 Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780] ERCC5 P28715 VAR_017097 p.Leu858Pro LP/P rs121434575 Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780] ERCC5 P28715 VAR_020431 p.Val145Ile LB/B rs4987063 - ERCC5 P28715 VAR_020432 p.Gln256Arg LB/B rs4150313 - ERCC5 P28715 VAR_020433 p.Cys529Ser LB/B rs2227869 - ERCC5 P28715 VAR_020434 p.Gln680Arg LB/B rs4987168 - ERCC5 P28715 VAR_020435 p.Asn879Ser LB/B rs4150342 - ERCC5 P28715 VAR_020436 p.Ala1119Val LB/B rs2227871 - ERCC5 P28715 VAR_023120 p.His181Arg LB/B rs4150295 - ERCC5 P28715 VAR_023121 p.Glu399Lys LB/B rs4150315 - ERCC5 P28715 VAR_023122 p.Val590Ile LB/B rs4150318 - ERCC5 P28715 VAR_023123 p.Val597Leu LB/B rs4150319 - ERCC5 P28715 VAR_023124 p.Arg1009His LB/B rs4150387 - ERCC5 P28715 VAR_023125 p.Gly1080Gln LB/B rs587778291 - ERCC5 P28715 VAR_046373 p.Phe670Leu LB/B rs1803542 - ERCC5 P28715 VAR_046374 p.Gly1053Arg LB/B rs9514066 - ERCC5 P28715 VAR_046375 p.Gly1080Arg LB/B rs9514067 - ERCC5 P28715 VAR_075773 p.Ala28Asp LP/P rs267607281 Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780] ERCC5 P28715 VAR_075774 p.Trp968Cys LP/P rs267607280 Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780] ERCC5 P28715 VAR_085644 p.Ser1078Ala US rs760347832 - ERCC6 P0DP91 VAR_079009 p.Gly746Asp LP/P - Premature ovarian failure 11 (POF11) [MIM:616946] ERCC6 P0DP91 VAR_079010 p.Arg850Lys LB/B rs4253072 - ERCC6 P0DP91 VAR_079011 p.Val1056Ile LP/P - Premature ovarian failure 11 (POF11) [MIM:616946] ERCC6 Q03468 VAR_001216 p.Lys255Thr LB/B - - ERCC6 Q03468 VAR_001217 p.Gly399Asp LB/B rs2228528 - ERCC6 Q03468 VAR_001218 p.Arg670Trp LP/P rs202080674 Cockayne syndrome B (CSB) [MIM:133540] ERCC6 Q03468 VAR_001219 p.Trp851Arg LP/P rs368728467 Cockayne syndrome B (CSB) [MIM:133540] ERCC6 Q03468 VAR_001220 p.Val957Gly LP/P - Cockayne syndrome B (CSB) [MIM:133540] ERCC6 Q03468 VAR_001221 p.Pro1042Leu LP/P - Cockayne syndrome B (CSB) [MIM:133540] ERCC6 Q03468 VAR_001222 p.Pro1095Arg LB/B rs4253208 - ERCC6 Q03468 VAR_001223 p.Met1097Val LB/B rs2228526 - ERCC6 Q03468 VAR_001224 p.Arg1213Gly LB/B rs2228527 - ERCC6 Q03468 VAR_001225 p.Gln1413Arg LB/B rs2228529 - ERCC6 Q03468 VAR_016301 p.Asp425Ala LB/B rs4253046 - ERCC6 Q03468 VAR_016302 p.Gly446Asp LB/B rs4253047 - ERCC6 Q03468 VAR_016303 p.Thr942Met LB/B rs2228525 - ERCC6 Q03468 VAR_016304 p.Tyr1002Cys LB/B rs4253206 - ERCC6 Q03468 VAR_016305 p.Arg1230Pro LB/B rs4253211 - ERCC6 Q03468 VAR_016306 p.Val1308Leu LB/B rs2229761 - ERCC6 Q03468 VAR_016307 p.Gly1322Val LB/B rs4253219 - ERCC6 Q03468 VAR_016308 p.Gly1372Arg LB/B rs4253227 - ERCC6 Q03468 VAR_016309 p.Gly1382Arg LB/B rs4253228 - ERCC6 Q03468 VAR_016310 p.Gly1410Arg LB/B rs4253229 - ERCC6 Q03468 VAR_016311 p.Thr1441Ile LB/B rs4253230 - ERCC6 Q03468 VAR_036021 p.Pro591Ala US rs1184760254 A colorectal cancer sample ERCC6 Q03468 VAR_036022 p.Arg652Leu US rs1365187961 A colorectal cancer sample ERCC6 Q03468 VAR_036023 p.Arg1038Thr US - A breast cancer sample ERCC6 Q03468 VAR_036024 p.Glu1119Gln US - A breast cancer sample ERCC6 Q03468 VAR_036025 p.Glu1119Val US - A breast cancer sample ERCC6 Q03468 VAR_037436 p.Thr1220Ile LB/B rs34704611 - ERCC6 Q03468 VAR_037437 p.Asp1355Glu LB/B rs34917815 - ERCC6 Q03468 VAR_054153 p.Arg134Trp LB/B rs148095899 - ERCC6 Q03468 VAR_063511 p.Asn680Asp LP/P rs1554788393 Cockayne syndrome B (CSB) [MIM:133540] ERCC6 Q03468 VAR_063512 p.Trp686Cys LP/P rs751292948 Cockayne syndrome B (CSB) [MIM:133540] ERCC6 Q03468 VAR_063513 p.Ser687Leu LP/P rs1026438103 Cockayne syndrome B (CSB) [MIM:133540] ERCC6 Q03468 VAR_063514 p.Leu871Pro LP/P - Cerebro-oculo-facio-skeletal syndrome 1 (COFS1) [MIM:214150] ERCC6 Q03468 VAR_063515 p.Leu987Pro LP/P rs121917905 Cerebro-oculo-facio-skeletal syndrome 1 (COFS1) [MIM:214150] ERCC6L2 Q5T890 VAR_039987 p.Val581Ala LB/B rs2274654 - ERCC8 Q13216 VAR_016319 p.Tyr200Cys LB/B rs4647105 - ERCC8 Q13216 VAR_025380 p.Ala160Val LP/P rs121434325 Cockayne syndrome A (CSA) [MIM:216400] ERCC8 Q13216 VAR_025381 p.Ala205Pro LP/P rs121434326 Cockayne syndrome A (CSA) [MIM:216400] ERCC8 Q13216 VAR_053392 p.Ser150Cys LB/B rs167037 - ERCC8 Q13216 VAR_063507 p.Ala160Thr LP/P rs281875222 Cockayne syndrome A (CSA) [MIM:216400] ERCC8 Q13216 VAR_063508 p.Trp194Cys LP/P rs281875223 Cockayne syndrome A (CSA) [MIM:216400] ERCC8 Q13216 VAR_063509 p.Leu202Ser LP/P rs281875224 Cockayne syndrome A (CSA) [MIM:216400] ERCC8 Q13216 VAR_063510 p.Asp266Gly LP/P rs281875225 Cockayne syndrome A (CSA) [MIM:216400] ERCC8 Q13216 VAR_068177 p.Trp361Cys LP/P rs281875221 UV-sensitive syndrome 2 (UVSS2) [MIM:614621] EREG O14944 VAR_033827 p.Arg147Gln LB/B rs35275884 - EREG O14944 VAR_035833 p.Gly42Ala US - A breast cancer sample ERF P50548 VAR_048947 p.Arg205His LB/B rs1053655 - ERF P50548 VAR_070098 p.Arg65Gln LP/P rs587777009 Craniosynostosis 4 (CRS4) [MIM:600775] ERF P50548 VAR_070099 p.Arg86Cys LP/P rs587777008 Craniosynostosis 4 (CRS4) [MIM:600775] ERF P50548 VAR_078043 p.Tyr89Cys LP/P rs886041001 Chitayat syndrome (CHYTS) [MIM:617180] ERGIC1 Q969X5 VAR_080480 p.Val98Glu US rs1554112524 Arthrogryposis multiplex congenita 2, neurogenic type (AMC2) [MIM:208100] ERGIC3 Q9Y282 VAR_036553 p.Thr297Lys US - A colorectal cancer sample ERGIC3 Q9Y282 VAR_048939 p.Ile113Leu LB/B rs35505616 - ERI1 Q8IV48 VAR_018107 p.Leu16Pro LB/B rs2288672 - ERI2 A8K979 VAR_043848 p.Ile206Thr US rs997506328 A colorectal cancer sample ERICH1 Q86X53 VAR_035915 p.Leu365Phe US rs774405503 A colorectal cancer sample ERICH1 Q86X53 VAR_050974 p.Arg403Ser LB/B rs1703879 - ERICH3 Q5RHP9 VAR_035131 p.Pro264Ala LB/B rs11210490 - ERICH3 Q5RHP9 VAR_035132 p.Arg555His LB/B rs696698 - ERICH3 Q5RHP9 VAR_035133 p.Ile636Val LB/B rs17095653 - ERICH3 Q5RHP9 VAR_035134 p.His691Arg LB/B rs2305549 - ERICH3 Q5RHP9 VAR_035135 p.Leu1056Val LB/B rs11580409 - ERICH3 Q5RHP9 VAR_035136 p.Val1528Met LB/B rs9326116 - ERICH5 Q6P6B1 VAR_033176 p.Arg59His LB/B rs7833473 - ERICH5 Q6P6B1 VAR_033177 p.Gln244Pro LB/B rs35368005 - ERICH5 Q6P6B1 VAR_033178 p.His287Arg LB/B rs11994440 - ERICH6 Q7L0X2 VAR_032893 p.Gly9Val LB/B rs16862795 - ERICH6 Q7L0X2 VAR_032894 p.Gly433Arg LB/B rs11919896 - ERICH6 Q7L0X2 VAR_062240 p.Arg604His LB/B rs34137455 - ERICH6B Q5W0A0 VAR_039969 p.Glu63Asp LB/B rs12020217 - ERICH6B Q5W0A0 VAR_039970 p.Glu99Gly LB/B rs12020731 - ERICH6B Q5W0A0 VAR_039971 p.Ser174Thr LB/B rs17066954 - ERICH6B Q5W0A0 VAR_039972 p.Glu178Lys LB/B rs3014939 - ERICH6B Q5W0A0 VAR_039973 p.Leu303Pro LB/B rs11618506 - ERICH6B Q5W0A0 VAR_039974 p.Thr427Ile LB/B rs749071 - ERICH6B Q5W0A0 VAR_039975 p.Pro439Arg LB/B rs12429125 - ERICH6B Q5W0A0 VAR_039976 p.His453Arg LB/B rs17066902 - ERICH6B Q5W0A0 VAR_039977 p.Arg565Cys LB/B rs7327901 - ERICH6B Q5W0A0 VAR_039978 p.Val653Phe LB/B rs1536207 - ERLEC1 Q96DZ1 VAR_051493 p.Val318Leu LB/B rs2287345 - ERLIN1 O75477 VAR_077847 p.Gly50Val LP/P rs876661322 Spastic paraplegia 62, autosomal recessive (SPG62) [MIM:615681] ERLIN2 O94905 VAR_059140 p.Val71Ala LB/B rs2032066 - ERMAP Q96PL5 VAR_025478 p.Ala4Val LB/B rs35757049 - ERMAP Q96PL5 VAR_025479 p.His26Tyr LB/B rs33953680 - ERMAP Q96PL5 VAR_025480 p.Gly35Ser LB/B rs146429994 - ERMAP Q96PL5 VAR_025481 p.Glu47Lys LB/B rs56047316 - ERMAP Q96PL5 VAR_025482 p.Gly57Arg LB/B rs56025238 - ERMAP Q96PL5 VAR_025483 p.Pro60Ala LB/B rs56136737 - ERMAP Q96PL5 VAR_025484 p.Arg81Gln LB/B rs368064875 - ERMAP Q96PL5 VAR_025487 p.Cys259Arg LB/B rs35147822 - ERMAP Q96PL5 VAR_025488 p.Gly263Glu LB/B rs34441268 - ERMARD Q5T6L9 VAR_033300 p.Ser540Gly LB/B rs4716346 - ERMARD Q5T6L9 VAR_070433 p.Ile377Asn LP/P rs398122410 Periventricular nodular heterotopia 6 (PVNH6) [MIM:615544] ERMP1 Q7Z2K6 VAR_028945 p.Ser44Asn LB/B rs13284203 - ERN1 O75460 VAR_040488 p.Asn244Ser US rs1397145500 A renal clear cell carcinoma sample ERN1 O75460 VAR_040489 p.Val418Met LB/B rs55869215 - ERN1 O75460 VAR_040490 p.Leu474Arg US rs186305118 A lung adenocarcinoma sample ERN1 O75460 VAR_040491 p.Arg635Trp US rs146710304 A gastric adenocarcinoma sample ERN1 O75460 VAR_040492 p.Asn700Ser LB/B rs918253870 - ERN1 O75460 VAR_040493 p.Ser769Phe US - A glioblastoma multiforme sample ERN1 O75460 VAR_040494 p.Pro830Leu US rs1279653488 An ovarian serous carcinoma sample ERN2 Q76MJ5 VAR_040495 p.Val69Ile LB/B rs9932495 - ERN2 Q76MJ5 VAR_040496 p.Arg118Cys LB/B rs56117885 - ERN2 Q76MJ5 VAR_040497 p.Arg184Cys LB/B rs34683474 - ERN2 Q76MJ5 VAR_040498 p.Arg271Gln LB/B rs55772851 - ERN2 Q76MJ5 VAR_040499 p.Ala318Thr LB/B rs56191901 - ERN2 Q76MJ5 VAR_040500 p.Leu410Phe LB/B rs55687638 - ERN2 Q76MJ5 VAR_040501 p.Ser487Thr LB/B rs26764 - ERN2 Q76MJ5 VAR_040502 p.Leu504Phe LB/B rs56001432 - ERN2 Q76MJ5 VAR_040503 p.Arg537Gln LB/B rs56176960 - ERN2 Q76MJ5 VAR_040504 p.His858Tyr LB/B rs56137182 - ERO1B Q86YB8 VAR_019492 p.His465Gln LB/B rs1055851 - ERO1B Q86YB8 VAR_028012 p.Asp129Val LB/B rs2477599 - ERP27 Q96DN0 VAR_052582 p.Phe52Leu LB/B rs35030722 - ERRFI1 Q9UJM3 VAR_050975 p.Ile158Leu LB/B rs34974993 - ERRFI1 Q9UJM3 VAR_063039 p.Asp109Asn LB/B rs34781518 - ERV3-1 Q14264 VAR_017801 p.Thr90Ile LB/B rs6460219 - ERV3-1 Q14264 VAR_017802 p.Cys192Tyr LB/B rs34639489 - ERV3-1 Q14264 VAR_017803 p.Tyr236Cys LB/B rs71539632 - ERV3-1 Q14264 VAR_017804 p.Asn481Ser LB/B rs4618579 - ERV3-1 Q14264 VAR_017805 p.Leu522Pro LB/B rs1406592674 - ERV3-1 Q14264 VAR_017806 p.Asn569Ser LB/B rs4717229 - ERVK-18 O42043 VAR_018642 p.Cys97Tyr LB/B - - ERVK-18 O42043 VAR_018644 p.Val272Ile LB/B - - ERVK-18 O42043 VAR_018645 p.Val348Ile LB/B - - ERVK-18 O42043 VAR_018646 p.Val534Ile LB/B - - ERVW-1 Q9UQF0 VAR_018638 p.Val129Ala LB/B rs142852059 - ERVW-1 Q9UQF0 VAR_018639 p.Arg138Gln LB/B rs55903518 - ERVW-1 Q9UQF0 VAR_018640 p.Ser307Asn LB/B rs10266695 - ERVW-1 Q9UQF0 VAR_018641 p.Ser477Phe LB/B rs141340741 - ESAM Q96AP7 VAR_049872 p.Arg273Cys LB/B rs12792040 - ESCO1 Q5FWF5 VAR_022648 p.Thr221Met LB/B rs13381941 - ESCO1 Q5FWF5 VAR_048167 p.Asn191Ser LB/B rs35087820 - ESCO2 Q56NI9 VAR_022649 p.Trp539Gly LP/P rs80359868 Roberts-SC phocomelia syndrome (RBS) [MIM:268300] ESCO2 Q56NI9 VAR_033840 p.Ala80Val LB/B rs4732748 - ESCO2 Q56NI9 VAR_060994 p.Gln359Pro LB/B rs57479434 - ESD P10768 VAR_005202 p.Gly190Glu LB/B rs9778 - ESD P10768 VAR_022275 p.Gly257Asp LB/B rs15303 - ESF1 Q9H501 VAR_024331 p.Ile550Thr LB/B rs3180370 - ESF1 Q9H501 VAR_053082 p.Pro386Leu LB/B rs6079171 - ESF1 Q9H501 VAR_053083 p.Ile824Leu LB/B rs34414644 - ESPL1 Q14674 VAR_057703 p.Ser614Arg LB/B rs1318648 - ESPL1 Q14674 VAR_057704 p.Arg699Gln LB/B rs34424268 - ESPL1 Q14674 VAR_057705 p.Ile1136Val LB/B rs34130634 - ESPL1 Q14674 VAR_057706 p.Thr1157Ala LB/B rs35428211 - ESPL1 Q14674 VAR_057707 p.Gln1237His LB/B rs34396464 - ESPL1 Q14674 VAR_057708 p.Lys1435Met LB/B rs1110719 - ESPN B1AK53 VAR_043451 p.Arg322His LB/B rs3817911 - ESPN B1AK53 VAR_043452 p.Tyr323Cys LB/B rs3817910 - ESPN B1AK53 VAR_043453 p.Ser719Arg LP/P rs121908134 Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006] ESPN B1AK53 VAR_043454 p.Asp744Asn LP/P rs121908135 Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006] ESPN B1AK53 VAR_043455 p.Arg774Gln US rs121908136 Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006] ESPNL Q6ZVH7 VAR_037535 p.Arg167Gln LB/B rs34046909 - ESPNL Q6ZVH7 VAR_037536 p.Ile568Val LB/B rs13033248 - ESPNL Q6ZVH7 VAR_037537 p.Ala574Ser LB/B rs13006204 - ESPNL Q6ZVH7 VAR_037538 p.Val761Ala LB/B rs4663845 - ESPNL Q6ZVH7 VAR_037539 p.Gln829Arg LB/B rs10172220 - ESR1 P03372 VAR_004671 p.Gly160Cys LB/B rs149308960 - ESR1 P03372 VAR_004673 p.Gly400Val US - - ESR1 P03372 VAR_018905 p.Gly77Ser LB/B rs9340773 - ESR1 P03372 VAR_033028 p.His6Tyr US rs139960913 A breast cancer sample ESR1 P03372 VAR_033029 p.Met264Ile US - A breast cancer sample ESR1 P03372 VAR_070072 p.Gln375His LP/P rs397509428 Estrogen resistance (ESTRR) [MIM:615363] ESR1 P03372 VAR_078516 p.Arg394His LP/P rs1131692059 Estrogen resistance (ESTRR) [MIM:615363] ESR2 Q92731 VAR_081786 p.Gly84Val US rs1460814363 - ESR2 Q92731 VAR_081788 p.Lys314Arg LP/P rs1567753148 Ovarian dysgenesis 8 (ODG8) [MIM:618187] ESR2 Q92731 VAR_081789 p.Leu426Arg US rs1217623435 - ESRP1 Q6NXG1 VAR_030073 p.Tyr196Cys LB/B rs2303454 - ESRP1 Q6NXG1 VAR_080811 p.Leu259Val LP/P rs1554577402 Deafness, autosomal recessive, 109 (DFNB109) [MIM:618013] ESRP2 Q9H6T0 VAR_030074 p.Ser111Leu LB/B rs12597504 - ESRP2 Q9H6T0 VAR_030075 p.Ala528Val LB/B rs3743738 - ESRP2 Q9H6T0 VAR_057245 p.Pro627Ser LB/B rs36054935 - ESRRB O95718 VAR_043503 p.Ala110Val LP/P rs121909110 Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] ESRRB O95718 VAR_043504 p.Leu320Pro LP/P - Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] ESRRB O95718 VAR_043505 p.Val342Leu LP/P rs121909111 Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] ESRRB O95718 VAR_043506 p.Leu347Pro LP/P - Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] ESRRB O95718 VAR_043507 p.Pro386Ser LB/B rs61742642 - ESRRB O95718 VAR_043508 p.Thr389Met US rs201714970 Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] ESRRG P62508 VAR_019229 p.Thr50Met LB/B rs11572693 - ESS2 Q96DF8 VAR_015117 p.Ala31Val LB/B rs113904207 - ESS2 Q96DF8 VAR_015118 p.Val336Met LB/B rs17743887 - ESS2 Q96DF8 VAR_015119 p.Ala423Val LB/B rs712965 - ESX1 Q8N693 VAR_059352 p.Thr314Pro LB/B rs9697856 - ESYT1 Q9BSJ8 VAR_038190 p.Arg764Cys LB/B rs35075600 - ESYT2 A0FGR8 VAR_030725 p.Cys210Ser LB/B rs13233513 - ESYT2 A0FGR8 VAR_030726 p.Ser638Gly LB/B rs2305473 - ESYT3 A0FGR9 VAR_038117 p.Pro246Gln LB/B rs17857138 - ESYT3 A0FGR9 VAR_038118 p.Gly416Arg LB/B rs6772467 - ESYT3 A0FGR9 VAR_053835 p.Gly590Arg LB/B rs10935282 - ESYT3 A0FGR9 VAR_062173 p.Thr662Ser LB/B rs35537868 - ETAA1 Q9NY74 VAR_031053 p.Met221Thr LB/B rs13036061 - ETAA1 Q9NY74 VAR_031054 p.Ser389Asn LB/B rs3770657 - ETAA1 Q9NY74 VAR_031055 p.Pro715Leu LB/B rs3770656 - ETAA1 Q9NY74 VAR_031056 p.Pro771Ser LB/B rs3770655 - ETAA1 Q9NY74 VAR_035916 p.Glu50Asp US - A colorectal cancer sample ETFA P13804 VAR_002366 p.Gly116Arg LP/P rs119458971 Glutaric aciduria 2A (GA2A) [MIM:231680] ETFA P13804 VAR_002367 p.Val157Gly LP/P rs119458969 Glutaric aciduria 2A (GA2A) [MIM:231680] ETFA P13804 VAR_002368 p.Thr266Met LP/P rs119458970 Glutaric aciduria 2A (GA2A) [MIM:231680] ETFA P13804 VAR_008547 p.Thr171Ile LB/B rs1801591 - ETFB P38117 VAR_002369 p.Arg164Gln LP/P rs104894677 Glutaric aciduria 2B (GA2B) [MIM:231680] ETFB P38117 VAR_008548 p.Thr154Met LB/B rs1130426 - ETFB P38117 VAR_025804 p.Asp128Asn LP/P rs104894678 Glutaric aciduria 2B (GA2B) [MIM:231680] ETFDH Q16134 VAR_036134 p.Val565Leu US rs769893690 A colorectal cancer sample ETFDH Q16134 VAR_055711 p.His94Arg LB/B rs1140065 - ETFDH Q16134 VAR_062966 p.Thr31Ile LB/B rs11559290 - ETFDH Q16134 VAR_075438 p.Phe16Cys LB/B - - ETFDH Q16134 VAR_075439 p.Tyr49Cys US - Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075440 p.Ser82Phe LP/P rs887871605 Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075441 p.Ser82Pro LP/P - Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075442 p.Ala84Thr LP/P rs121964954 Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075443 p.His112Tyr LP/P - Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075444 p.Leu127His LP/P rs121964956 Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075445 p.Leu138Arg US rs779896449 Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075446 p.Arg175His LP/P rs121964955 Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075447 p.Arg175Leu LP/P rs121964955 Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075448 p.Asp218Asn US rs748289922 Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075449 p.Gln222Pro US rs1482632936 Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075450 p.Leu262Phe US - Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075451 p.Leu334Pro US rs377686388 Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075452 p.His346Arg US rs1358691961 Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075453 p.Leu377Pro US rs387907170 Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075454 p.Arg452Lys US - Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075455 p.Pro456Leu LP/P rs398124152 Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075456 p.Pro456Thr LP/P - Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075457 p.Pro483Leu US rs377656387 Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075458 p.Pro562Leu LP/P rs993314323 Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075459 p.Lys590Glu LP/P - Glutaric aciduria 2C (GA2C) [MIM:231680] ETFDH Q16134 VAR_075460 p.Gly611Glu LP/P rs761669036 Glutaric aciduria 2C (GA2C) [MIM:231680] ETHE1 O95571 VAR_023395 p.Tyr38Cys LP/P rs1555765564 Ethylmalonic encephalopathy (EE) [MIM:602473] ETHE1 O95571 VAR_023396 p.Thr136Ala LP/P rs1284200516 Ethylmalonic encephalopathy (EE) [MIM:602473] ETHE1 O95571 VAR_023397 p.Arg163Trp LP/P rs28940289 Ethylmalonic encephalopathy (EE) [MIM:602473] ETHE1 O95571 VAR_023398 p.Leu185Arg LP/P rs387906987 Ethylmalonic encephalopathy (EE) [MIM:602473] ETHE1 O95571 VAR_069507 p.Leu55Pro LP/P rs182983506 Ethylmalonic encephalopathy (EE) [MIM:602473] ETHE1 O95571 VAR_069508 p.Thr152Ile LP/P rs1317633085 Ethylmalonic encephalopathy (EE) [MIM:602473] ETHE1 O95571 VAR_069509 p.Arg163Gln LP/P rs745656120 Ethylmalonic encephalopathy (EE) [MIM:602473] ETHE1 O95571 VAR_069510 p.Thr164Lys LP/P rs1268640442 Ethylmalonic encephalopathy (EE) [MIM:602473] ETHE1 O95571 VAR_069511 p.Asp196Asn LP/P rs763799125 Ethylmalonic encephalopathy (EE) [MIM:602473] ETNK2 Q9NVF9 VAR_022145 p.Arg227Gln LB/B rs3737657 - ETNPPL Q8TBG4 VAR_032342 p.Ser185Pro LB/B rs1377210 - ETV1 P50549 VAR_048948 p.Ser100Gly LB/B rs9639168 - ETV2 O00321 VAR_071062 p.Asp90Asn LB/B rs2285419 - ETV3L Q6ZN32 VAR_039928 p.Ser19Ala LB/B rs16838078 - ETV3L Q6ZN32 VAR_039929 p.Gly263Ala LB/B rs12136960 - ETV3L Q6ZN32 VAR_039930 p.Met318Val LB/B rs12126791 - ETV3L Q6ZN32 VAR_048949 p.Arg151Trp LB/B rs12083811 - ETV4 P43268 VAR_048950 p.Arg437Cys LB/B rs34260468 - ETV4 P43268 VAR_069110 p.Phe195Ile LB/B rs150119757 - ETV5 P41161 VAR_048951 p.Lys348Arg LB/B rs2228269 - ETV6 P41212 VAR_073322 p.Pro214Leu LP/P rs724159947 Thrombocytopenia 5 (THC5) [MIM:616216] ETV6 P41212 VAR_073323 p.Arg369Gln LP/P rs724159946 Thrombocytopenia 5 (THC5) [MIM:616216] ETV6 P41212 VAR_073324 p.Arg399Cys LP/P rs724159945 Thrombocytopenia 5 (THC5) [MIM:616216] ETV7 Q9Y603 VAR_020314 p.Pro212Leu LB/B rs2234079 - ETV7 Q9Y603 VAR_048952 p.His138Tyr LB/B rs9470262 - ETV7 Q9Y603 VAR_048953 p.Gly199Ser LB/B rs34306145 - ETV7 Q9Y603 VAR_048954 p.Ala250Val LB/B rs2234080 - ETV7 Q9Y603 VAR_059257 p.Ala86Thr LB/B rs9394345 - EURL Q9NYK6 VAR_011631 p.Gln117Arg LB/B rs1047976 - EURL Q9NYK6 VAR_011632 p.Asp136Glu LB/B rs1047978 - EURL Q9NYK6 VAR_054506 p.Asn115Lys LB/B rs2824495 - EURL Q9NYK6 VAR_054507 p.Gln195His LB/B rs8128004 - EURL Q9NYK6 VAR_054508 p.Tyr217His LB/B rs2824494 - EVA1A Q9H8M9 VAR_054077 p.Arg150His LB/B rs11126472 - EVC P57679 VAR_009942 p.Gln74Pro LB/B rs2291157 - EVC P57679 VAR_009943 p.Tyr258His LB/B rs6414624 - EVC P57679 VAR_009944 p.Ser307Pro LP/P rs121908426 Acrofacial dysostosis, Weyers type (WAD) [MIM:193530] EVC P57679 VAR_009945 p.Gly403Ser LB/B rs183114391 - EVC P57679 VAR_009946 p.Arg443Gln LP/P rs35953626 Ellis-van Creveld syndrome (EVC) [MIM:225500] EVC P57679 VAR_009947 p.Thr449Lys LB/B rs2302075 - EVC P57679 VAR_009948 p.Arg576Gln LB/B rs1383180 - EVC P57679 VAR_009949 p.Arg760Gln LB/B rs2279252 - EVC P57679 VAR_009950 p.Asp953Gly LB/B - - EVC P57679 VAR_033852 p.Ala114Val LB/B rs16837598 - EVC P57679 VAR_033853 p.Thr372Met LB/B rs28483498 - EVC P57679 VAR_066447 p.Ser206Asn LP/P rs1017946059 Ellis-van Creveld syndrome (EVC) [MIM:225500] EVC P57679 VAR_066448 p.Leu623Pro LP/P rs1373632260 Ellis-van Creveld syndrome (EVC) [MIM:225500] EVC2 Q86UK5 VAR_017209 p.Ile283Arg LP/P rs137852926 Ellis-van Creveld syndrome (EVC) [MIM:225500] EVC2 Q86UK5 VAR_017210 p.Thr699Ala LB/B rs730469 - EVC2 Q86UK5 VAR_017211 p.Arg950Trp LP/P rs137852928 Ellis-van Creveld syndrome (EVC) [MIM:225500] EVC2 Q86UK5 VAR_035933 p.Ala630Ser US - A colorectal cancer sample EVC2 Q86UK5 VAR_035934 p.Leu994Val US - A colorectal cancer sample EVC2 Q86UK5 VAR_051089 p.Ser230Gly LB/B rs4689278 - EVI2B P34910 VAR_056871 p.Gly53Arg LB/B rs9903564 - EVI5 O60447 VAR_028890 p.Ile336Val LB/B rs2391199 - EVI5 O60447 VAR_028891 p.Gln612His LB/B rs11808092 - EVI5 O60447 VAR_047753 p.Asp82Val LB/B rs1064580 - EVL Q9UI08 VAR_036464 p.Pro188Leu US rs367737727 A colorectal cancer sample EVL Q9UI08 VAR_036465 p.Pro247Leu US - A colorectal cancer sample EVPL Q92817 VAR_024579 p.Asn49Ser LB/B rs397833081 - EVPL Q92817 VAR_033863 p.Gln433Arg LB/B rs2071192 - EVPL Q92817 VAR_057698 p.Tyr168Cys LB/B rs10445216 - EVPL Q92817 VAR_057699 p.Pro1814Ser LB/B rs7342883 - EVPLL A8MZ36 VAR_063399 p.Ser4Asn LB/B rs570145 - EXD1 Q8NHP7 VAR_043676 p.Thr489Ala LB/B rs522063 - EXD2 Q9NVH0 VAR_050980 p.Asp231Asn LB/B rs35010854 - EXD2 Q9NVH0 VAR_050981 p.Gln518His LB/B rs8007859 - EXD3 Q8N9H8 VAR_038945 p.Arg220Gln LB/B rs7389423 - EXD3 Q8N9H8 VAR_062225 p.Arg20Gln LB/B rs13291830 - EXO1 Q9UQ84 VAR_024966 p.Val27Ala LB/B rs1472620416 - EXO1 Q9UQ84 VAR_024967 p.Val76Ile LB/B rs4149864 - EXO1 Q9UQ84 VAR_024968 p.Arg93Gly LB/B rs4149865 - EXO1 Q9UQ84 VAR_024969 p.Glu109Lys LB/B rs143546023 - EXO1 Q9UQ84 VAR_024970 p.Ala137Ser LB/B rs147663824 - EXO1 Q9UQ84 VAR_024971 p.Asn279Ser LB/B rs4149909 - EXO1 Q9UQ84 VAR_024972 p.Asn299Ser LB/B rs4149910 - EXO1 Q9UQ84 VAR_024973 p.His354Arg LB/B rs735943 - EXO1 Q9UQ84 VAR_024974 p.Leu410Arg LB/B rs571928768 - EXO1 Q9UQ84 VAR_024975 p.Asp428Asn LB/B rs4149962 - EXO1 Q9UQ84 VAR_024976 p.Phe438Cys LB/B - - EXO1 Q9UQ84 VAR_024977 p.Thr439Met LB/B rs4149963 - EXO1 Q9UQ84 VAR_024978 p.Ser456Tyr LB/B rs4149964 - EXO1 Q9UQ84 VAR_024979 p.Val458Met LB/B rs4149965 - EXO1 Q9UQ84 VAR_024980 p.Val460Leu LB/B rs4149966 - EXO1 Q9UQ84 VAR_024981 p.Arg503Thr LB/B rs4149967 - EXO1 Q9UQ84 VAR_024982 p.Glu589Lys LB/B rs1047840 - EXO1 Q9UQ84 VAR_024983 p.Ser610Gly LB/B rs12122770 - EXO1 Q9UQ84 VAR_024984 p.Arg634Gln LB/B rs4149978 - EXO1 Q9UQ84 VAR_024985 p.Pro640Ala LB/B rs61736331 - EXO1 Q9UQ84 VAR_024986 p.Pro640Ser LB/B rs61736331 - EXO1 Q9UQ84 VAR_024987 p.Glu670Gly LB/B rs1776148 - EXO1 Q9UQ84 VAR_024988 p.Arg723Cys LB/B rs1635498 - EXO1 Q9UQ84 VAR_024989 p.His726Pro LB/B - - EXO1 Q9UQ84 VAR_024990 p.Pro757Leu LB/B rs9350 - EXO1 Q9UQ84 VAR_024991 p.Gly759Glu LB/B rs4150001 - EXO1 Q9UQ84 VAR_024992 p.Pro770Leu LB/B rs200622305 - EXO1 Q9UQ84 VAR_024993 p.Ala827Val LB/B rs145975455 - EXO1 Q9UQ84 VAR_077352 p.Ala153Val LB/B - - EXO5 Q9H790 VAR_035407 p.Asp115Asn LB/B rs1134586 - EXO5 Q9H790 VAR_035408 p.Gly172Val LB/B rs11208299 - EXOC2 Q96KP1 VAR_048956 p.Asn195Thr LB/B rs35600069 - EXOC2 Q96KP1 VAR_085744 p.Arg130His US - Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) [MIM:619306] EXOC2 Q96KP1 VAR_085746 p.Leu580Ser US - Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) [MIM:619306] EXOC3-AS1 Q8N2X6 VAR_046197 p.Pro50Ser LB/B rs10035653 - EXOC3-AS1 Q8N2X6 VAR_046198 p.Arg118Gly LB/B rs10035612 - EXOC3L1 Q86VI1 VAR_036959 p.Gln561Glu LB/B rs9939768 - EXOC3L1 Q86VI1 VAR_036960 p.Ser634Gly LB/B rs16957212 - EXOC3L1 Q86VI1 VAR_037002 p.Tyr75Asn US rs117403380 A breast cancer sample EXOC3L1 Q86VI1 VAR_037003 p.Ala514Asp US rs142958191 A breast cancer sample EXOC3L2 Q2M3D2 VAR_036961 p.Asn173Asp LB/B rs10411314 - EXOC3L4 Q17RC7 VAR_030273 p.Arg77Trp LB/B rs2297067 - EXOC3L4 Q17RC7 VAR_030274 p.Asp93Glu LB/B rs2297066 - EXOC3L4 Q17RC7 VAR_030275 p.Leu185His LB/B rs10131298 - EXOC3L4 Q17RC7 VAR_030276 p.Gln675Arg LB/B rs729184 - EXOC3L4 Q17RC7 VAR_062863 p.Gln685Glu LB/B rs744153 - EXOC4 Q96A65 VAR_036292 p.Ser220Phe US - A colorectal cancer sample EXOC4 Q96A65 VAR_036293 p.Ala599Thr US rs768209201 A colorectal cancer sample EXOC5 O00471 VAR_048957 p.Glu10Asp LB/B rs35132458 - EXOC6 Q8TAG9 VAR_044522 p.Thr396Ile LB/B rs1326331 - EXOC6 Q8TAG9 VAR_044523 p.Leu523Val LB/B rs11187225 - EXOC6 Q8TAG9 VAR_044524 p.Thr578Ile LB/B rs35647717 - EXOC7 Q9UPT5 VAR_085058 p.Ala574Thr US rs762553587 Neurodevelopmental disorder with seizures and brain atrophy (NEDSEBA) [MIM:619072] EXOC8 Q8IYI6 VAR_082196 p.Glu265Gly US rs483352868 - EXOG Q9Y2C4 VAR_044320 p.Gly277Val LB/B rs1141223 - EXOSC1 Q9Y3B2 VAR_085726 p.Ser35Leu LP/P - Pontocerebellar hypoplasia 1F (PCH1F) [MIM:619304] EXOSC2 Q13868 VAR_080552 p.Gly30Val LP/P rs537467155 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) [MIM:617763] EXOSC2 Q13868 VAR_080553 p.Gly198Asp LP/P rs756204866 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) [MIM:617763] EXOSC3 Q9NQT5 VAR_054098 p.Tyr225His LB/B rs3208406 - EXOSC3 Q9NQT5 VAR_068505 p.Gly31Ala LP/P rs387907196 Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678] EXOSC3 Q9NQT5 VAR_068506 p.Asp132Ala LP/P rs141138948 Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678] EXOSC3 Q9NQT5 VAR_068507 p.Ala139Pro LP/P rs387907195 Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678] EXOSC3 Q9NQT5 VAR_068508 p.Trp238Arg LP/P rs672601332 Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678] EXOSC3 Q9NQT5 VAR_074169 p.Val80Phe LB/B rs374550999 - EXOSC5 Q9NQT4 VAR_030788 p.Thr5Met LB/B rs10853751 - EXOSC5 Q9NQT4 VAR_051868 p.Cys33Trp LB/B rs34500671 - EXOSC5 Q9NQT4 VAR_086374 p.Thr101Lys LP/P rs777418116 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) [MIM:619576] EXOSC5 Q9NQT4 VAR_086375 p.Thr114Ile LP/P rs542429051 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) [MIM:619576] EXOSC5 Q9NQT4 VAR_086376 p.Met148Thr US rs367988911 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) [MIM:619576] EXOSC5 Q9NQT4 VAR_086377 p.Leu206His LP/P - Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) [MIM:619576] EXOSC7 Q15024 VAR_014923 p.Val274Leu LB/B rs6794 - EXOSC7 Q15024 VAR_032765 p.Arg169Gln LB/B rs34512144 - EXOSC8 Q96B26 VAR_072558 p.Ala2Val LP/P rs606231285 Pontocerebellar hypoplasia 1C (PCH1C) [MIM:616081] EXOSC8 Q96B26 VAR_072559 p.Ser272Thr LP/P rs36027220 Pontocerebellar hypoplasia 1C (PCH1C) [MIM:616081] EXOSC9 Q06265 VAR_014924 p.Ser425Thr LB/B rs1051881 - EXOSC9 Q06265 VAR_051867 p.Ile366Val LB/B rs1803183 - EXOSC9 Q06265 VAR_081052 p.Leu14Pro LP/P rs139632595 Pontocerebellar hypoplasia 1D (PCH1D) [MIM:618065] EXPH5 Q8NEV8 VAR_030538 p.Arg19Gly LB/B rs2640738 - EXPH5 Q8NEV8 VAR_030539 p.Arg118Leu LB/B rs3741046 - EXPH5 Q8NEV8 VAR_030540 p.Glu137Val LB/B rs2640785 - EXPH5 Q8NEV8 VAR_030541 p.Arg328Gln LB/B rs11212684 - EXPH5 Q8NEV8 VAR_030542 p.Met512Leu LB/B rs17108127 - EXPH5 Q8NEV8 VAR_030543 p.Val525Phe LB/B rs12146448 - EXPH5 Q8NEV8 VAR_030544 p.Ser676Asn LB/B rs2846412 - EXPH5 Q8NEV8 VAR_030545 p.Asp777Asn LB/B rs3741048 - EXPH5 Q8NEV8 VAR_030546 p.Leu853Pro LB/B rs10749920 - EXPH5 Q8NEV8 VAR_030547 p.Asn892Tyr LB/B rs10890850 - EXPH5 Q8NEV8 VAR_030548 p.Val899Ala LB/B rs17108112 - EXPH5 Q8NEV8 VAR_030549 p.Asp1240Asn LB/B rs11828459 - EXPH5 Q8NEV8 VAR_030550 p.Cys1311Arg LB/B rs877474 - EXPH5 Q8NEV8 VAR_030551 p.Gly1663Arg LB/B rs2640779 - EXPH5 Q8NEV8 VAR_030552 p.Asp1967Asn LB/B rs1943382 - EXPH5 Q8NEV8 VAR_057117 p.Met1147Ile LB/B rs34012545 - EXPH5 Q8NEV8 VAR_057118 p.Ser1236Ala LB/B rs35520914 - EXPH5 Q8NEV8 VAR_057119 p.Thr1343Ala LB/B rs34978242 - EXPH5 Q8NEV8 VAR_057120 p.Glu1656Lys LB/B rs35083468 - EXPH5 Q8NEV8 VAR_057121 p.Ile1735Phe LB/B rs35717245 - EXT1 Q16394 VAR_002370 p.Arg280Gly LP/P rs1554601483 Hereditary multiple exostoses 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_002371 p.Arg280Ser LP/P rs1563659325 Hereditary multiple exostoses 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_002372 p.Gly339Asp LP/P rs119103288 Hereditary multiple exostoses 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_002373 p.Arg340Cys LP/P rs119103290 Hereditary multiple exostoses 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_002374 p.Arg340His LP/P rs119103287 Hereditary multiple exostoses 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_002375 p.Arg340Leu LP/P rs119103287 Hereditary multiple exostoses 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_002376 p.Arg340Ser LP/P - Hereditary multiple exostoses 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_012815 p.Gln27Lys LP/P - Hereditary multiple exostoses 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_012816 p.Asp164His LP/P - Hereditary multiple exostoses 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_012820 p.Asn316Ser LP/P - Chondrosarcoma (CHDSA) [MIM:215300] EXT1 Q16394 VAR_012821 p.Ala486Val LP/P rs188859975 Hereditary multiple exostoses 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_012822 p.Pro496Leu LP/P - Hereditary multiple exostoses 1 (EXT1) [MIM:133700] EXT2 Q93063 VAR_002378 p.Asp227Asn LP/P rs121918280 Hereditary multiple exostoses 2 (EXT2) [MIM:133701] EXT2 Q93063 VAR_012823 p.Cys85Arg LP/P - Hereditary multiple exostoses 2 (EXT2) [MIM:133701] EXT2 Q93063 VAR_012824 p.Leu152Arg LP/P - Hereditary multiple exostoses 2 (EXT2) [MIM:133701] EXT2 Q93063 VAR_012825 p.Arg179Ser LP/P - Hereditary multiple exostoses 2 (EXT2) [MIM:133701] EXT2 Q93063 VAR_012826 p.Ala202Val LP/P rs771803942 Hereditary multiple exostoses 2 (EXT2) [MIM:133701] EXT2 Q93063 VAR_012827 p.Arg223Pro LP/P rs764379119 Hereditary multiple exostoses 2 (EXT2) [MIM:133701] EXT2 Q93063 VAR_012828 p.Ile380Thr LP/P - Hereditary multiple exostoses 2 (EXT2) [MIM:133701] EXT2 Q93063 VAR_012829 p.Glu576Lys LB/B rs373582542 - EXT2 Q93063 VAR_033921 p.Met42Val LB/B rs4755779 - EXT2 Q93063 VAR_076469 p.Met87Arg LP/P rs140075817 Seizures, scoliosis, and macrocephaly/microcephaly syndrome (SSMS) [MIM:616682] EXT2 Q93063 VAR_076470 p.Arg95Cys LP/P rs376292686 Seizures, scoliosis, and macrocephaly/microcephaly syndrome (SSMS) [MIM:616682] EXTL1 Q92935 VAR_012830 p.His379Asn LB/B rs2736831 - EXTL1 Q92935 VAR_049228 p.Arg163His LB/B rs34277678 - EXTL3 O43909 VAR_049229 p.Leu706Pro LB/B rs2269452 - EXTL3 O43909 VAR_061194 p.Ala550Val LB/B rs35781576 - EXTL3 O43909 VAR_079089 p.Arg339Trp LP/P rs747676107 Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) [MIM:617425] EXTL3 O43909 VAR_079090 p.Val442Leu LB/B rs116659770 - EXTL3 O43909 VAR_079091 p.Pro461Leu LP/P rs554294508 Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) [MIM:617425] EXTL3 O43909 VAR_079092 p.Arg513Cys LP/P rs1332006145 Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) [MIM:617425] EXTL3 O43909 VAR_079093 p.Asn657Ser LP/P rs770842408 Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) [MIM:617425] EXTL3 O43909 VAR_079094 p.Tyr670Asp LP/P - Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) [MIM:617425] EXTL3 O43909 VAR_080762 p.Ser646Cys US - - EYA1 Q99502 VAR_005203 p.Ser487Pro LP/P rs121909200 Branchiootorenal syndrome 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_005204 p.Leu505Arg LP/P rs121909201 Branchiootorenal syndrome 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_016864 p.Glu363Lys LP/P rs121909198 Anterior segment anomalies with or without cataract (ASA) [MIM:602588] EYA1 Q99502 VAR_016865 p.Gly426Ser LP/P rs121909199 Branchiootorenal syndrome 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_016866 p.Asp429Gly LP/P - Branchiootorenal syndrome 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_016867 p.Arg440Gln LP/P rs121909196 Branchiootorenal syndrome 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_016868 p.Arg547Gly LP/P rs121909197 Anterior segment anomalies with or without cataract (ASA) [MIM:602588] EYA1 Q99502 VAR_016869 p.Leu583Pro LP/P rs397517920 Branchiootorenal syndrome 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_024439 p.Pro20Ala LB/B rs1445404 - EYA1 Q99502 VAR_044452 p.Ser242Gly LP/P rs191838840 Branchiootic syndrome 1 (BOS1) [MIM:602588] EYA1 Q99502 VAR_064942 p.Pro95Ser LP/P - Branchiootorenal syndrome 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_064943 p.Gly140Ser LP/P - Branchiootorenal syndrome 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_064944 p.Glu363Val LP/P - Branchiootorenal syndrome 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_064945 p.Leu514Pro LP/P rs112340154 Branchiootorenal syndrome 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_064946 p.Tyr527Cys LP/P - Branchiootorenal syndrome 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_064947 p.Met569Thr LP/P - Branchiootorenal syndrome 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_070033 p.Glu41Lys LB/B rs561111097 - EYA2 O00167 VAR_048964 p.Pro83Ser LB/B rs2275596 - EYA2 O00167 VAR_048965 p.Thr238Ala LB/B rs866936 - EYA4 O95677 VAR_022932 p.Gly277Ser LB/B rs9493627 - EYA4 O95677 VAR_036248 p.Leu152Arg US - A colorectal cancer sample EYA4 O95677 VAR_036249 p.Asp301Asn US rs779172192 A colorectal cancer sample EYA4 O95677 VAR_074570 p.Gly171Arg LP/P rs1471362858 Deafness, autosomal dominant, 10 (DFNA10) [MIM:601316] EYA4 O95677 VAR_074571 p.Thr548Arg LP/P - Deafness, autosomal dominant, 10 (DFNA10) [MIM:601316] EYS Q5T1H1 VAR_035301 p.Thr120Met LB/B rs12193967 - EYS Q5T1H1 VAR_043561 p.Leu852Pro LB/B rs9294631 - EYS Q5T1H1 VAR_063437 p.Pro94Gln LB/B rs111947397 - EYS Q5T1H1 VAR_063438 p.Val112Ile LB/B rs112609906 - EYS Q5T1H1 VAR_063439 p.Thr135Leu US - - EYS Q5T1H1 VAR_063440 p.Val136Phe LB/B rs543011021 - EYS Q5T1H1 VAR_063441 p.Ser326Asn LB/B rs112822256 - EYS Q5T1H1 VAR_063442 p.Lys532Asn LB/B rs61753611 - EYS Q5T1H1 VAR_063443 p.Arg551Leu LB/B - - EYS Q5T1H1 VAR_063444 p.Gln571Arg LB/B rs61753610 - EYS Q5T1H1 VAR_063445 p.Gly618Ser LP/P rs142450703 Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063446 p.Gly631Ser LB/B rs9342464 - EYS Q5T1H1 VAR_063447 p.Glu641Val LB/B rs17411795 - EYS Q5T1H1 VAR_063448 p.Asn745Ser US rs201652272 Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063449 p.Val834Ile LB/B rs112464110 - EYS Q5T1H1 VAR_063450 p.Lys938Arg LB/B rs367857088 - EYS Q5T1H1 VAR_063451 p.Thr1110Ser LP/P rs143327210 Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063452 p.Asn1163Lys LB/B rs150951106 - EYS Q5T1H1 VAR_063453 p.Cys1176Arg LP/P - Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063454 p.Ile1232Phe LP/P rs190009374 Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063455 p.Ile1263Val LB/B rs17404123 - EYS Q5T1H1 VAR_063456 p.Gln1325Glu LB/B rs12663622 - EYS Q5T1H1 VAR_063457 p.Ile1361Val LB/B rs17403955 - EYS Q5T1H1 VAR_063458 p.Lys1365Glu LB/B rs16895519 - EYS Q5T1H1 VAR_063459 p.Leu1419Ser LB/B rs624851 - EYS Q5T1H1 VAR_063460 p.Ile1451Thr LB/B rs62415828 - EYS Q5T1H1 VAR_063461 p.Arg1515Trp LB/B rs62415827 - EYS Q5T1H1 VAR_063462 p.Ser1517Gly LB/B rs62415826 - EYS Q5T1H1 VAR_063463 p.Asp1662Val LB/B rs147641443 - EYS Q5T1H1 VAR_063464 p.Thr1664Ile LB/B rs561830314 - EYS Q5T1H1 VAR_063465 p.Asp1682Tyr LP/P rs75831552 Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063466 p.Pro1739Leu LB/B - - EYS Q5T1H1 VAR_063467 p.Glu1747Gly LP/P rs535663619 Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063468 p.Leu1748Phe LB/B rs57312007 - EYS Q5T1H1 VAR_063469 p.Trp1837Ser LB/B rs199689193 - EYS Q5T1H1 VAR_063470 p.Leu1869Met LP/P - Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063471 p.Leu1873Val LB/B rs16895517 - EYS Q5T1H1 VAR_063472 p.Asn1902Ile LB/B rs9353806 - EYS Q5T1H1 VAR_063473 p.Ser1915Gly LB/B rs188093810 - EYS Q5T1H1 VAR_063474 p.Thr1987Pro LB/B rs1278246029 - EYS Q5T1H1 VAR_063475 p.Thr1993Ala LB/B rs115066356 - EYS Q5T1H1 VAR_063476 p.Ile1999Val LB/B rs893294562 - EYS Q5T1H1 VAR_063477 p.Val2040Asp LB/B rs201580493 - EYS Q5T1H1 VAR_063478 p.Cys2139Tyr LP/P rs749909863 Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063479 p.Asn2151Ser LB/B rs141603172 - EYS Q5T1H1 VAR_063480 p.Leu2189Pro LP/P - Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063481 p.Ser2211Leu US rs145623359 Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063482 p.Arg2326Gln LB/B rs4710457 - EYS Q5T1H1 VAR_063483 p.Ser2556Cys LB/B rs66462731 - EYS Q5T1H1 VAR_063484 p.His2599Arg LB/B rs74636274 - EYS Q5T1H1 VAR_063485 p.Ala2757Pro LB/B rs1250317776 - EYS Q5T1H1 VAR_063486 p.Ala2829Thr LP/P rs111991705 Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063487 p.Thr2831Ile LB/B rs144513453 - EYS Q5T1H1 VAR_063488 p.Cys2911Tyr LP/P - Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063489 p.Gly2928Glu LP/P - Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_064417 p.Trp1484Arg LP/P rs1260400598 Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_064418 p.Gly2017Val LP/P rs868349465 Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_064419 p.Glu2503Lys LP/P rs768964978 Retinitis pigmentosa 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_064420 p.Gln2945Glu LP/P - Retinitis pigmentosa 25 (RP25) [MIM:602772] EZH2 Q15910 VAR_055795 p.Asp185His LB/B rs2302427 - EZH2 Q15910 VAR_067228 p.Tyr641Cys US - A patient with diffuse large B-cell lymphoma EZH2 Q15910 VAR_067229 p.Tyr641Phe LB/B rs267601394 - EZH2 Q15910 VAR_067230 p.Tyr641His LB/B rs267601395 - EZH2 Q15910 VAR_067231 p.Tyr641Asn LB/B rs267601395 - EZH2 Q15910 VAR_067232 p.Tyr641Ser LB/B rs267601394 - EZH2 Q15910 VAR_067233 p.Arg685His US rs1554481435 A patient with chronic myelomonocytic leukemia EZH2 Q15910 VAR_067595 p.Pro132Ser LP/P rs193921148 Weaver syndrome (WVS) [MIM:277590] EZH2 Q15910 VAR_067597 p.His689Tyr LP/P rs193921147 Weaver syndrome (WVS) [MIM:277590] EZH2 Q15910 VAR_078320 p.Tyr133Cys LP/P rs1808822115 Weaver syndrome (WVS) [MIM:277590] EZH2 Q15910 VAR_078321 p.Met134Thr LP/P - Weaver syndrome (WVS) [MIM:277590] EZH2 Q15910 VAR_078322 p.Lys156Glu LP/P - Weaver syndrome (WVS) [MIM:277590] EZH2 Q15910 VAR_078323 p.His279Arg LP/P - Weaver syndrome (WVS) [MIM:277590] EZH2 Q15910 VAR_078324 p.Cys571Trp US - - EZH2 Q15910 VAR_078325 p.Val621Met US rs587783625 Weaver syndrome (WVS) [MIM:277590] EZH2 Q15910 VAR_078326 p.Tyr658Asn LP/P - Weaver syndrome (WVS) [MIM:277590] EZH2 Q15910 VAR_078327 p.Ala677Gly LB/B rs1057519833 - EZH2 Q15910 VAR_078328 p.Ala677Thr LP/P rs397515547 Weaver syndrome (WVS) [MIM:277590] EZH2 Q15910 VAR_078329 p.Arg679Cys LP/P rs587783626 Weaver syndrome (WVS) [MIM:277590] EZH2 Q15910 VAR_078330 p.Arg685Cys US - - EZH2 Q15910 VAR_078331 p.Ser690Leu LP/P - Weaver syndrome (WVS) [MIM:277590] EZH2 Q15910 VAR_078332 p.Tyr726Asp US - - EZH2 Q15910 VAR_078334 p.Tyr736Cys LP/P - Weaver syndrome (WVS) [MIM:277590] EZH2 Q15910 VAR_078335 p.Glu740Lys US rs397515548 Weaver syndrome (WVS) [MIM:277590] EZHIP Q86X51 VAR_038938 p.Arg470Lys LB/B rs1875755 - EZR P15311 VAR_015112 p.Leu532Val LB/B - - EZR P15311 VAR_030572 p.Arg180Cys LB/B rs3103004 - EZR P15311 VAR_030573 p.Ala494Pro LB/B rs2230143 - F10 P00742 VAR_014162 p.Leu7Ile LB/B rs5963 - F10 P00742 VAR_014163 p.Gln30His LB/B rs5961 - F10 P00742 VAR_020176 p.Ala152Thr LB/B rs3211772 - F10 P00742 VAR_020177 p.Gly192Arg LB/B rs3211783 - F10 P00742 VAR_065428 p.Glu47Gly LP/P rs121964943 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065429 p.Gly51Val LP/P rs751782758 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065430 p.Glu54Gly LP/P rs121964944 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065431 p.Glu54Lys LP/P rs121964939 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065432 p.Glu72Gln LP/P rs121964945 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065433 p.Glu91Lys LP/P rs1477329751 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065434 p.Glu142Lys US rs61753266 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065435 p.Cys149Tyr LP/P - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065436 p.Cys151Tyr LP/P - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065437 p.Gly289Arg LP/P rs121964946 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065438 p.Glu304Lys LP/P rs747292771 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065439 p.Asp322Asn LP/P rs121964942 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065440 p.Arg327Trp LP/P rs770119164 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065441 p.Val338Met LP/P rs121964947 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065442 p.Glu350Lys LP/P rs372309538 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065443 p.Thr358Met LP/P rs768222784 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065444 p.Gly363Ser LP/P rs1595099527 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065445 p.Arg366Cys LP/P rs104894392 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065446 p.Ser374Pro LP/P rs121964941 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065447 p.Pro383Ser LP/P rs121964940 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065448 p.Cys390Phe LP/P rs199778916 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065449 p.Cys404Arg LP/P rs1595099645 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065450 p.Gly406Ser LP/P rs376163818 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065451 p.Gly420Arg LP/P rs750759634 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065452 p.Lys448Asn LP/P - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_072751 p.Val382Ala LP/P - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_072752 p.Gly421Asp LP/P rs758726161 Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_075213 p.Gly262Asp US rs1393705267 Factor X deficiency (FA10D) [MIM:227600] F11 P03951 VAR_006622 p.Phe301Leu LP/P rs121965064 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_011774 p.Pro66Leu LB/B rs5968 - F11 P03951 VAR_011775 p.Gln244Arg LB/B rs5969 - F11 P03951 VAR_011776 p.Ile308Phe LB/B rs5972 - F11 P03951 VAR_011777 p.Cys339Phe LB/B rs5967 - F11 P03951 VAR_011778 p.Trp399Arg LB/B rs1800439 - F11 P03951 VAR_012085 p.Asp34His LP/P rs281875267 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012086 p.Trp246Cys LP/P rs281875279 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012087 p.Ser266Asn LP/P rs145168351 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012088 p.Leu320Pro LP/P rs281875268 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012089 p.Thr322Ile LP/P rs281875269 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012090 p.Arg326Cys LP/P rs28934608 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012091 p.Glu341Lys LP/P rs281875270 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012092 p.Thr404Asn LP/P rs121965067 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012093 p.Ala430Val LP/P rs121965068 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012094 p.Phe460Val LP/P rs121965065 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012095 p.Thr493Ile LP/P rs1554083754 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012096 p.Ser594Arg LP/P rs28934609 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054894 p.Cys46Phe LP/P rs281875271 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054895 p.Cys56Arg LP/P rs121965069 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054896 p.Lys101Arg LP/P rs281875272 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054897 p.Tyr151Cys LP/P rs281875273 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054898 p.Cys255Tyr LP/P rs281875277 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054899 p.Gly263Glu LP/P rs281875274 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054900 p.Lys270Ile LP/P rs121965070 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054901 p.Gly418Val LP/P rs121965071 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054902 p.Tyr511His LP/P rs281875278 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054903 p.Pro538Leu LP/P rs139695003 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054904 p.Glu565Lys LP/P rs281875275 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054905 p.Trp587Ser LP/P rs121965072 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054906 p.Ile618Ser LP/P rs281875276 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067929 p.Gly32Arg LP/P rs281875259 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067930 p.Ala43Thr LP/P rs281875264 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067931 p.Thr51Ile LP/P rs281875252 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067932 p.Thr51Pro LP/P rs281875243 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067933 p.His53Gln LP/P rs281875261 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067934 p.Ala63Val LP/P rs281875244 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067935 p.Cys140Tyr LP/P rs281875256 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067936 p.Asp222Tyr LP/P rs281875245 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067937 p.Arg228Gln LP/P rs281875246 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067938 p.Phe241Leu LP/P rs281875265 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067939 p.Arg252Thr LP/P rs281875260 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067940 p.Ser276Cys LP/P rs281875247 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067941 p.Gly277Asp LP/P rs281875248 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067942 p.Glu315Lys LP/P rs281875257 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067943 p.Thr331Ile LP/P rs281875253 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067944 p.Leu360Pro LP/P rs281875254 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067945 p.Trp401Arg LP/P rs281875262 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067946 p.Val403Met LP/P rs281875266 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067947 p.Ile454Lys LP/P rs281875241 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067948 p.Ile481Ser LP/P rs281875242 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067949 p.Ser503Pro LP/P rs140068026 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067950 p.Asp506Gly LP/P rs281875258 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067951 p.Cys514Phe LP/P rs281875249 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067952 p.Asp526Glu LP/P rs281875263 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067953 p.Ser575Leu LP/P rs281875250 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067954 p.Glu597Lys LP/P rs281875251 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_067955 p.Tyr608His LP/P rs281875255 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_076515 p.Phe30Ser LP/P - Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_076516 p.Ala109Thr LP/P rs768474112 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_076517 p.Asp216Asn LP/P - Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_076518 p.Glu543Lys LP/P rs142952627 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_076519 p.His552Arg LP/P rs369935706 Factor XI deficiency (FA11D) [MIM:612416] F12 P00748 VAR_006623 p.Arg372Pro LP/P rs118204454 Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_006624 p.Cys590Ser LP/P rs1157280571 Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_014336 p.Ala207Pro LB/B rs17876030 - F12 P00748 VAR_014337 p.Gly545Asp LB/B rs17876034 - F12 P00748 VAR_014338 p.Tyr605His LB/B rs17876035 - F12 P00748 VAR_014426 p.Tyr53Cys LP/P rs118204455 Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_029191 p.Pro342Gln LB/B rs2230939 - F12 P00748 VAR_031500 p.Arg142Pro LP/P - Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_031501 p.Thr328Lys LP/P rs118204456 Angioedema, hereditary, 3 (HAE3) [MIM:610618] F12 P00748 VAR_031502 p.Thr328Arg LP/P rs118204456 Angioedema, hereditary, 3 (HAE3) [MIM:610618] F12 P00748 VAR_031503 p.Ala411Thr LP/P rs865853663 Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_031504 p.Leu414Met LP/P - Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_031505 p.Arg417Gln LP/P rs932430490 Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_031506 p.Gln440Lys LP/P - Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_031507 p.Asp461Asn LP/P - Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_031508 p.Trp505Cys LP/P - Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_031509 p.Gly589Arg LP/P rs766505234 Factor XII deficiency (FA12D) [MIM:234000] F13A1 P00488 VAR_007471 p.Pro565Leu LB/B rs5982 - F13A1 P00488 VAR_007472 p.Val651Ile LB/B rs5987 - F13A1 P00488 VAR_007473 p.Glu652Gln LB/B rs5988 - F13A1 P00488 VAR_007474 p.Arg682His LP/P rs121913064 Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_013927 p.Val35Leu LB/B rs5985 - F13A1 P00488 VAR_013928 p.Thr551Ile LB/B rs5984 - F13A1 P00488 VAR_013929 p.Leu589Gln LB/B rs5983 - F13A1 P00488 VAR_020910 p.Val40Ile LB/B rs3024472 - F13A1 P00488 VAR_020911 p.Tyr205Phe LB/B rs3024477 - F13A1 P00488 VAR_060545 p.Thr650Ile LB/B rs17852475 - F13A1 P00488 VAR_074280 p.Pro167Leu LP/P rs746272012 Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_074281 p.Arg172Gln LP/P rs376147795 Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_074282 p.Gly274Val LP/P - Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_074283 p.His343Tyr LP/P - Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_074284 p.Ala347Asp US - Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_074285 p.Trp376Arg US - Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_074286 p.Ser414Leu US rs1396702202 Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_074287 p.Gln416Arg LP/P - Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_074288 p.Leu530Pro LP/P - Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_074289 p.Gln602Lys LP/P rs757172838 Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_074290 p.Arg704Gln LP/P rs377484555 Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_074291 p.Arg716Gly LP/P rs778206273 Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_077619 p.Arg38Gln LP/P rs759324596 Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_077620 p.Tyr168Cys LP/P rs779361778 Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_077621 p.Pro290Arg LP/P - Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_077622 p.Arg541Gln LP/P rs367679357 Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_077623 p.Gly593Ser LP/P rs138754417 Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_077624 p.Arg612His LP/P rs369187276 Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_077625 p.Asp669Gly LP/P rs375129902 Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13B P05160 VAR_007475 p.Cys450Phe LP/P rs121913075 Factor XIII subunit B deficiency (FA13BD) [MIM:613235] F13B P05160 VAR_013930 p.Met49Val LB/B rs6002 - F13B P05160 VAR_013931 p.Arg115His LB/B rs6003 - F13B P05160 VAR_013932 p.His350Arg LB/B rs5999 - F13B P05160 VAR_013933 p.Glu388Val LB/B rs5991 - F13B P05160 VAR_013934 p.Tyr543Ser LB/B rs6001 - F13B P05160 VAR_013935 p.Asp569Glu LB/B rs6000 - F13B P05160 VAR_020612 p.Ile342Thr LB/B rs17514281 - F13B P05160 VAR_020613 p.Leu529Pro LB/B rs17549671 - F13B P05160 VAR_074563 p.Cys25Arg LP/P rs1232302447 Factor XIII subunit B deficiency (FA13BD) [MIM:613235] F13B P05160 VAR_074564 p.Ile101Asn LP/P rs753009140 Factor XIII subunit B deficiency (FA13BD) [MIM:613235] F13B P05160 VAR_074565 p.Leu136Phe US rs757094432 Factor XIII subunit B deficiency (FA13BD) [MIM:613235] F13B P05160 VAR_074566 p.Val237Ile US rs145637157 Factor XIII subunit B deficiency (FA13BD) [MIM:613235] F13B P05160 VAR_074567 p.Cys336Phe LP/P rs778826479 Factor XIII subunit B deficiency (FA13BD) [MIM:613235] F13B P05160 VAR_074568 p.Val421Glu LP/P - Factor XIII subunit B deficiency (FA13BD) [MIM:613235] F13B P05160 VAR_074569 p.Pro448Ser LP/P - Factor XIII subunit B deficiency (FA13BD) [MIM:613235] F2 P00734 VAR_006711 p.Glu200Lys LP/P rs62623459 Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_006712 p.Arg314Cys LP/P rs121918477 Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_006713 p.Arg314His LP/P rs754231232 Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_006714 p.Met380Thr LP/P rs121918481 Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_006715 p.Arg425Cys LP/P rs121918479 Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_006716 p.Arg431His LP/P rs121918482 Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_006717 p.Arg461Trp LP/P rs121918478 Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_006718 p.Glu509Ala LP/P - Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_006719 p.Gly601Val LP/P rs121918480 Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_011781 p.Thr165Met LB/B rs5896 - F2 P00734 VAR_011782 p.Pro386Thr LB/B rs5897 - F2 P00734 VAR_055232 p.Glu72Gly LP/P - Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_068913 p.Glu532Gln LB/B - - F2R P25116 VAR_014167 p.Ser166Gly LB/B rs5893 - F2R P25116 VAR_049432 p.Tyr187Asn LB/B rs2230849 - F2R P25116 VAR_049433 p.Val257Leu LB/B rs2227832 - F2R P25116 VAR_049434 p.Ser412Tyr LB/B rs2227799 - F2R P25116 VAR_060680 p.Ala268Pro LB/B rs1055103 - F2R P25116 VAR_060681 p.Ala335Val LB/B rs17849599 - F2RL1 P55085 VAR_012846 p.Ser21Phe LB/B rs2243072 - F2RL1 P55085 VAR_012847 p.Arg270Gln LB/B rs2243062 - F2RL1 P55085 VAR_012848 p.Thr291Ala LB/B rs2243083 - F2RL1 P55085 VAR_049435 p.Asn30Ser LB/B rs616235 - F2RL2 O00254 VAR_012849 p.Leu15Ser LB/B rs2069649 - F2RL2 O00254 VAR_012850 p.Met177Val LB/B rs2069700 - F2RL2 O00254 VAR_012851 p.Asn250Asp LB/B rs2069683 - F2RL3 Q96RI0 VAR_012852 p.Phe296Val LB/B rs2227346 - F2RL3 Q96RI0 VAR_012853 p.Pro310Leu LB/B rs2227376 - F2RL3 Q96RI0 VAR_028300 p.Ala120Thr LB/B rs773902 - F2RL3 Q96RI0 VAR_028301 p.Arg215Gln LB/B rs2230799 - F3 P13726 VAR_012008 p.Arg163Trp LB/B rs5901 - F3 P13726 VAR_014298 p.Thr36Ala LB/B rs3917604 - F3 P13726 VAR_014299 p.Ile145Val LB/B rs3917627 - F3 P13726 VAR_052280 p.Gly281Glu LB/B rs3789683 - F5 P12259 VAR_001213 p.Arg534Gln LP/P rs6025 Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] F5 P12259 VAR_001214 p.Lys858Arg LB/B rs4524 - F5 P12259 VAR_001215 p.His865Arg LB/B rs4525 - F5 P12259 VAR_013620 p.Arg334Gly LB/B rs118203905 - F5 P12259 VAR_013621 p.Arg334Thr LP/P rs118203906 Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] F5 P12259 VAR_013622 p.Arg513Lys LB/B rs6020 - F5 P12259 VAR_013886 p.Asp107His LB/B rs6019 - F5 P12259 VAR_013887 p.Met413Thr LB/B rs6033 - F5 P12259 VAR_013888 p.Pro809Ser LB/B rs6031 - F5 P12259 VAR_013889 p.Asn817Thr LB/B rs6018 - F5 P12259 VAR_013890 p.Lys925Glu LB/B rs6032 - F5 P12259 VAR_013891 p.His1146Gln LB/B rs6005 - F5 P12259 VAR_013892 p.Leu1285Ile LB/B rs1046712 - F5 P12259 VAR_013893 p.His1327Arg LB/B rs1800595 - F5 P12259 VAR_013894 p.Glu1530Ala LB/B rs6007 - F5 P12259 VAR_013895 p.Thr1685Ser LB/B rs6011 - F5 P12259 VAR_013896 p.Leu1749Val LB/B rs6034 - F5 P12259 VAR_013897 p.Met1764Val LB/B rs6030 - F5 P12259 VAR_013898 p.Met1820Ile LB/B rs6026 - F5 P12259 VAR_013899 p.Asp2222Gly LB/B rs6027 - F5 P12259 VAR_017329 p.Arg2102His LP/P - Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] F5 P12259 VAR_021297 p.Gly15Ser LB/B rs9332485 - F5 P12259 VAR_021298 p.Thr915Ser LB/B rs9332695 - F5 P12259 VAR_021299 p.Asn969Ser LB/B rs9332604 - F5 P12259 VAR_021300 p.Arg980Leu LB/B rs9332605 - F5 P12259 VAR_021301 p.Pro1404Ser LB/B rs9332608 - F5 P12259 VAR_021302 p.Met2148Thr LB/B rs9332701 - F5 P12259 VAR_032698 p.Ile387Thr LP/P rs118203911 Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] F5 P12259 VAR_032699 p.Cys613Arg LP/P rs1453479152 Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] F5 P12259 VAR_032700 p.Tyr1730Cys LP/P rs118203907 Factor V deficiency (FA5D) [MIM:227400] F5 P12259 VAR_032701 p.Arg2102Cys LP/P rs118203910 Factor V deficiency (FA5D) [MIM:227400] F5 P12259 VAR_034603 p.Lys2185Arg LB/B rs6679078 - F5 P12259 VAR_035817 p.Ser775Ala US - A colorectal cancer sample F5 P12259 VAR_047740 p.Ser781Arg LB/B rs13306350 - F5 P12259 VAR_047741 p.Leu1397Phe LB/B rs13306334 - F7 P08709 VAR_006497 p.Arg139Lys LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006498 p.Arg139Gln LP/P rs150525536 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006499 p.Arg139Trp LP/P rs776796178 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006500 p.Gly157Ser LP/P rs763458490 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006501 p.Gly157Cys LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006502 p.Gln160Arg LP/P rs200016360 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006503 p.Pro194Thr LP/P rs1234759020 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006504 p.Lys197Glu LP/P rs1250204261 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006505 p.Arg212Gln LP/P rs868044209 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006506 p.Cys238Tyr LP/P rs121964928 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006507 p.Arg283Trp LP/P rs779589651 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006508 p.Ala304Val LP/P rs121964931 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006509 p.Arg307His LP/P rs121964929 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006510 p.Glu325Lys LP/P rs749760143 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006511 p.Ala354Val LP/P rs36209567 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006512 p.Met358Ile LP/P rs149283257 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006513 p.Met358Val LP/P rs928183869 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006514 p.Arg364Gln LP/P rs121964926 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006515 p.Cys370Phe LP/P rs121964927 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006516 p.Gly402Arg LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006517 p.Gly402Glu LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006518 p.Arg413Gln LB/B rs6046 - F7 P08709 VAR_006519 p.Thr419Met LP/P rs121964930 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_013122 p.Ala352Thr LB/B rs3093267 - F7 P08709 VAR_013123 p.Glu445Lys LB/B rs3093248 - F7 P08709 VAR_013936 p.Val295Asp LB/B rs6045 - F7 P08709 VAR_014391 p.Leu13Pro LP/P rs387906507 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014392 p.Cys389Gly LP/P rs121964934 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014405 p.Leu73Gln LP/P rs45572939 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014406 p.Glu79Gln LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014407 p.Cys121Phe LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014408 p.Leu125Pro LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014409 p.Tyr128Cys LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014410 p.Cys151Ser LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014411 p.Gly157Val LP/P rs771335282 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014412 p.Cys195Arg LP/P rs372577568 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014413 p.Thr241Asn LP/P rs1160146175 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014414 p.Asp302His LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014415 p.Asp302Asn LP/P rs770328850 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014416 p.Ala304Thr LP/P rs773627551 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014417 p.Arg307Cys LP/P rs147680958 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014418 p.Thr332Met LP/P rs200212201 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014419 p.Gly391Ser LP/P rs190485816 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014420 p.Gly435Glu LP/P rs756956471 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015135 p.Phe64Leu LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015136 p.Ser120Pro LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015137 p.Glu154Lys LP/P rs146795869 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015138 p.Gly216Asp LP/P rs1438503836 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015139 p.Cys254Tyr LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015140 p.Ala266Thr LP/P rs764807079 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015141 p.Val312Met LP/P rs201991361 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015142 p.Val341Phe LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015143 p.Pro363Arg LP/P rs963430078 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015144 p.Asp403His LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_018671 p.Thr367Ser LB/B rs747673406 - F7 P08709 VAR_065370 p.Cys82Phe LP/P rs1448296564 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065371 p.Cys82Arg LP/P rs745374448 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065373 p.Glu85Lys LP/P rs121964935 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065374 p.Arg88Gly LP/P rs776354144 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065375 p.Arg88Pro LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065376 p.Asn117Asp LP/P rs121964932 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065377 p.Gly138Asp LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065378 p.Gly156Ser LP/P rs563972504 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065379 p.Ser171Phe LP/P rs143855920 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065380 p.Gly177Arg LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065381 p.Leu181Pro LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065382 p.Asp183Asn LP/P rs1258691292 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065383 p.Ser186Phe LP/P rs764971156 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065384 p.Pro189Ser LP/P rs1479693459 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065385 p.Pro194Leu LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065386 p.Ile198Thr LP/P rs762621913 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065387 p.Gly240Arg LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065388 p.Ser250Phe LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065389 p.Ala251Pro LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065390 p.Ala251Thr LP/P rs1269916662 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065391 p.Cys254Arg LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065392 p.Leu264Pro LP/P rs753266903 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065393 p.Asp272Asn LP/P rs751028917 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065394 p.Asp277Asn LP/P rs550074221 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065395 p.Thr298Ile LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065396 p.His301Gln LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065397 p.Leu314Val LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065398 p.Leu321Phe LP/P rs778138366 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065399 p.Leu323Arg LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065400 p.Arg326Gln LP/P rs146698837 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065401 p.Arg337Cys LP/P rs139372641 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065402 p.Gly343Ser LP/P rs1250853566 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065403 p.Trp344Arg LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065404 p.Gly345Ser LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065405 p.Arg350Cys LP/P rs747876824 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065406 p.Leu360Pro LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065407 p.Pro363His LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065408 p.Arg364Trp LP/P rs750980786 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065409 p.Arg375Trp LP/P rs137919286 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065410 p.Thr384Met LP/P rs531225271 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065411 p.Met387Thr LP/P rs1595080725 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065412 p.Met387Val LP/P rs1215224419 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065413 p.Phe388Ser LP/P rs121964938 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065414 p.Gly391Cys LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065415 p.Asp398Glu LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065416 p.Lys401Glu LP/P rs748979195 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065417 p.Ser404Asn LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065418 p.His408Gln LP/P rs121964936 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065419 p.His408Arg LP/P rs1566910847 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065420 p.Arg413Gly LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065421 p.Gly414Cys LP/P rs121964937 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065422 p.Val422Phe LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065423 p.Gly425Ala LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065424 p.Gly425Cys LP/P - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065425 p.Ala429Thr LP/P rs755377592 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065426 p.Gly432Asp LP/P rs1450120320 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065427 p.Tyr437Phe LP/P rs758213652 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_076570 p.Trp344Gly LP/P - Factor VII deficiency (FA7D) [MIM:227500] F8 P00451 VAR_001045 p.Leu26Arg LP/P rs137852377 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001046 p.Glu30Val LP/P rs137852378 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001047 p.Gly41Cys LP/P rs137852379 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001049 p.Asp75Val LB/B rs1800288 - F8 P00451 VAR_001050 p.Gly89Asp LP/P rs137852380 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001051 p.Gly89Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001052 p.Val99Asp LP/P rs137852382 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001053 p.Val104Asp LP/P rs137852383 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001054 p.Lys108Thr LP/P rs137852384 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001055 p.Met110Val LP/P rs137852385 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001056 p.Leu117Arg LP/P rs137852386 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001057 p.Glu129Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001058 p.Gly130Arg LP/P rs137852387 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001059 p.Glu132Asp LP/P rs137852388 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001060 p.Tyr133Cys LP/P rs137852389 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001061 p.Asp135Gly LP/P rs137852390 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001062 p.Thr137Ile LP/P rs137852391 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001063 p.Gly164Val LP/P rs137852392 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001064 p.Pro165Ser LP/P rs137852393 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001065 p.Val181Met LP/P rs137852394 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001066 p.Lys185Thr LP/P rs137852395 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001067 p.Ser189Leu LP/P rs137852367 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001068 p.Asp222Val LP/P rs137852396 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001069 p.Gly224Trp LP/P rs137852397 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001070 p.Val253Phe LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001071 p.Gly266Glu LP/P rs137852398 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001072 p.Gly278Arg LP/P rs137852399 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001073 p.Val285Gly LP/P rs137852400 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001074 p.Glu291Gly LP/P rs137852359 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001075 p.Thr294Ile LP/P rs137852401 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001076 p.Asn299Ile LP/P rs137852402 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001077 p.Arg301His LP/P rs137852403 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001078 p.Arg301Leu LP/P rs137852403 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001079 p.Ser308Leu LP/P rs137852404 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001080 p.Phe312Ser LP/P rs137852405 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001081 p.Thr314Ala LP/P rs137852406 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001082 p.Thr314Ile LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001083 p.Leu327Pro LP/P rs137852407 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001084 p.Ile331Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001085 p.Val345Leu LP/P rs137852371 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001086 p.Cys348Arg LP/P rs137852370 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001087 p.Cys348Ser LP/P rs137852410 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001088 p.Cys348Tyr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001089 p.Arg391Cys LP/P rs137852364 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001090 p.Arg391His LP/P rs28935499 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001091 p.Arg391Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001092 p.Ser392Leu LP/P rs28933668 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001093 p.Ser392Pro LP/P rs28933669 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001094 p.Ile405Ser LP/P rs28933670 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001095 p.Glu409Gly LP/P rs28933671 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001096 p.Leu431Phe LP/P rs28933672 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001097 p.Gly439Val LP/P rs1362305882 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001098 p.Lys444Arg LP/P rs28937272 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001099 p.Tyr450Asn LP/P rs111033616 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001100 p.Gly474Arg LP/P rs1345538633 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001101 p.Ala488Gly LP/P rs782485864 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001102 p.Tyr492His LP/P rs137852411 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001103 p.Tyr492Cys LP/P rs137852412 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001104 p.Ile494Thr LP/P rs137852413 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001105 p.Gly498Arg LP/P rs137852414 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001106 p.Asp544Asn LP/P rs137852415 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001107 p.Arg546Trp LP/P rs137852416 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001108 p.Arg550Cys LP/P rs137852417 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001109 p.Arg550Gly LP/P rs137852417 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001110 p.Arg550His LP/P rs137852418 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001111 p.Ser554Gly LP/P rs137852419 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001112 p.Val556Asp LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001113 p.Ser577Phe LP/P rs28937282 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001114 p.Gln584Lys LP/P rs137852422 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001115 p.Ile585Thr LP/P rs137852376 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001116 p.Ser596Pro LP/P rs137852423 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001117 p.Ser603Ile LP/P rs137852425 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001118 p.Trp604Cys LP/P rs137852426 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001119 p.Tyr605Ser LP/P rs137852427 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001120 p.Arg612Cys LP/P rs137852428 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001121 p.Asn631Lys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001122 p.Asn631Ser LP/P rs137852429 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001123 p.Leu644Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001124 p.Val653Ala LP/P rs137852430 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001125 p.Val653Met LP/P rs137852431 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001126 p.Ala663Val LP/P rs137852433 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001128 p.Phe677Leu LP/P rs137852434 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001129 p.Met699Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001130 p.Arg717Trp LP/P rs137852435 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001131 p.Gly720Asp LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001132 p.Ala723Thr LP/P rs137852436 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001133 p.Val727Phe LP/P rs1485277601 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001134 p.Glu739Lys LP/P rs28937285 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001135 p.Glu1057Lys LP/P rs28933673 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001136 p.Asp1260Glu LB/B rs1800291 - F8 P00451 VAR_001137 p.Leu1481Pro LB/B rs1800294 - F8 P00451 VAR_001138 p.Tyr1699Cys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001139 p.Tyr1699Phe LP/P rs28935203 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001140 p.Arg1708Cys LP/P rs111033613 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001141 p.Arg1708His LP/P rs111033614 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001142 p.Arg1715Gly LP/P rs137852439 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001143 p.Glu1723Lys LP/P rs137852373 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001144 p.Tyr1728Cys LP/P rs137852362 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001145 p.Gly1769Arg LP/P rs137852440 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001146 p.Leu1775Val LP/P rs28937287 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001147 p.Leu1775Phe LP/P rs137852441 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001148 p.Gly1779Glu LP/P rs28937289 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001149 p.Met1791Thr LP/P rs137852375 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001150 p.Arg1800His LP/P rs137852442 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001151 p.Arg1800Cys LP/P rs137852443 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001152 p.Arg1800Gly LP/P rs137852443 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001153 p.Ser1803Tyr LP/P rs137852444 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001154 p.Leu1808Phe LP/P rs137852445 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001155 p.Met1842Ile LP/P rs28933674 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001156 p.Pro1844Ser LP/P rs28933675 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001157 p.Thr1845Pro LP/P rs28933676 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001158 p.Ala1853Thr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001159 p.Ala1853Val LP/P rs28933677 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001160 p.Asp1865Asn LP/P rs28933678 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001161 p.Asp1865Tyr LP/P rs28933678 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001162 p.His1867Arg LP/P rs28933679 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001163 p.Gly1869Val LP/P rs1290383918 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001164 p.Pro1873Arg LP/P rs28933680 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001165 p.Arg1888Ile LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001166 p.Glu1894Gly LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001167 p.Glu1904Lys LP/P rs28933681 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001168 p.Asn1941Asp LP/P rs137852369 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001169 p.Asn1941Ser LP/P rs28933682 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001170 p.Arg1960Gln LP/P rs28937294 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001171 p.Arg1960Leu LP/P rs28937294 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001172 p.Gly1967Asp LP/P rs111033615 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001173 p.Gly1979Val LP/P rs137852450 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001174 p.His1980Tyr LP/P rs137852451 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001175 p.Arg2016Trp LP/P rs137852453 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001176 p.Asn2038Ser LP/P rs137852454 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001177 p.Trp2065Arg LP/P rs137852455 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001178 p.Ser2088Phe LP/P rs137852456 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001179 p.Asp2093Gly LP/P rs137852457 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001180 p.Thr2105Asn LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001181 p.Gly2107Ser LP/P rs1267586059 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001182 p.Phe2120Leu LP/P rs137852458 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001183 p.Tyr2124Cys LP/P rs137852459 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001184 p.Arg2135Pro LP/P rs137852366 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001185 p.Ser2138Tyr LP/P rs137852460 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001186 p.Asn2148Ser LP/P rs1321311878 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001187 p.Arg2169His LP/P rs137852461 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001188 p.Pro2172Gln LP/P rs137852462 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001189 p.Thr2173Ile LP/P rs137852463 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001190 p.Arg2178Cys LP/P rs137852464 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001191 p.Arg2178His LP/P rs137852465 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001192 p.Arg2178Leu LP/P rs137852465 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001193 p.Arg2182Cys LP/P rs137852467 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001194 p.Arg2182His LP/P rs137852466 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001195 p.Met2183Val LP/P rs781797728 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001196 p.Leu2185Ser LP/P rs137852365 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001197 p.Ile2204Thr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001198 p.Ile2209Asn LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001199 p.Ala2211Pro LP/P rs137852468 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001201 p.Arg2228Gly LP/P rs137852355 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001202 p.Arg2228Leu LP/P rs137852358 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001203 p.Arg2228Gln LP/P rs137852358 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001204 p.Val2242Met LB/B rs782654096 - F8 P00451 VAR_001205 p.Trp2248Cys LP/P rs137852469 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001206 p.Gln2265Arg LP/P rs137852470 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001207 p.Pro2319Leu LP/P rs137852472 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001208 p.Pro2319Ser LP/P rs137852374 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001209 p.Arg2323Cys LP/P rs137852473 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001210 p.Arg2323His LP/P rs137852474 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001211 p.Arg2326Leu LP/P rs137852360 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001212 p.Arg2326Gln LP/P rs137852360 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_008123 p.Ser202Arg LP/P rs1603436217 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_008967 p.Asp561Tyr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_008968 p.Gly2344Cys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_015127 p.Gly255Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_015128 p.Gly323Glu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_015129 p.Met586Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_015130 p.Gly1942Ala LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_015131 p.Leu1963Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_015132 p.Tyr2036Cys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_015133 p.Pro2172Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_015134 p.Asp2307Ala LP/P rs1603430929 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017330 p.Glu72Lys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017331 p.Ala97Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017332 p.Tyr155His LP/P rs1281943689 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017333 p.Val181Glu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017334 p.Asn254Ile LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017335 p.Gly439Ser LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017336 p.Lys529Glu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017337 p.Ile567Thr LP/P rs782193428 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017338 p.Phe1804Ser LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017339 p.Ile2051Ser LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017340 p.Thr2141Asn LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017341 p.Cys2193Gly LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_021356 p.Met2257Val LB/B rs1800297 - F8 P00451 VAR_024380 p.Arg795Gly LB/B rs2228152 - F8 P00451 VAR_028447 p.Ser19Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028448 p.Arg22Thr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028449 p.Tyr24Cys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028450 p.Tyr25Cys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028451 p.Leu26Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028452 p.Trp33Gly LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028453 p.Tyr35Cys LP/P rs137852476 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028454 p.Tyr35His LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028455 p.Arg48Lys LP/P rs1261929809 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028456 p.Lys67Glu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028457 p.Lys67Asn LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028458 p.Leu69Pro LP/P rs944567323 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028459 p.Asp75Glu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028460 p.Asp75Tyr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028463 p.Gly92Ala LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028464 p.Gly92Val LP/P rs137852381 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028465 p.Glu98Lys LP/P rs1296842178 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028466 p.Asp101Gly LP/P rs1312347909 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028467 p.Asp101His LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028468 p.Asp101Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028469 p.Ala111Thr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028470 p.Ala111Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028471 p.His113Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028472 p.His113Tyr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028473 p.Leu117Phe LP/P rs782481755 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028474 p.Gly121Ser LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028475 p.Asp135Tyr LP/P rs2073597882 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028476 p.Thr137Ala LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028477 p.Ser138Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028478 p.Glu141Lys LP/P rs1388356765 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028479 p.Asp145His LP/P rs1433420305 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028480 p.Val147Asp LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028481 p.Val159Ala LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028482 p.Asn163Lys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028483 p.Gly164Asp LP/P rs137852392 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028484 p.Cys172Trp LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028485 p.Ser176Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028486 p.Ser179Pro LP/P rs1455943875 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028487 p.Asp186Gly LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028488 p.Asp186Tyr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028489 p.Gly193Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028490 p.Cys198Gly LP/P rs137852475 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028491 p.Ser202Asn LP/P rs1603436218 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028492 p.Phe214Val LP/P rs2073563995 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028493 p.Leu217His LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028494 p.Ala219Asp LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028495 p.Ala219Thr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028496 p.Val220Gly LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028497 p.Glu223Lys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028498 p.Thr252Ile LP/P rs1464962436 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028499 p.Pro262Leu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028500 p.Gly263Ser LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028501 p.Cys267Tyr LP/P rs1208703993 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028502 p.Trp274Cys LP/P rs34371500 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028503 p.His275Leu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028504 p.Glu284Lys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028505 p.Glu291Lys LP/P rs868988809 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028506 p.Phe295Leu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028507 p.Val297Ala LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028508 p.Arg301Cys LP/P rs1401805753 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028510 p.Ala303Glu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028511 p.Ala303Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028512 p.Ile307Ser LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028513 p.Ala315Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028515 p.Leu326Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028516 p.Leu327Val LP/P rs1603435395 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028517 p.Cys329Phe LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028518 p.Met339Thr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028519 p.Glu340Lys LP/P rs781954986 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028520 p.Val345Ala LP/P rs1189348665 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028521 p.Tyr365Cys LP/P rs375241473 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028522 p.Trp401Gly LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028523 p.Ile405Phe LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028524 p.Trp412Gly LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028525 p.Trp412Arg LP/P rs1234456704 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028526 p.Lys427Ile LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028527 p.Leu431Ser LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028528 p.Arg437Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028529 p.Arg437Trp LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028530 p.Ile438Phe LP/P rs1258333672 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028531 p.Gly439Asp LP/P rs1362305882 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028532 p.Tyr442Cys LP/P rs1441830456 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028533 p.Tyr450Asp LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028534 p.Thr454Ile LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028535 p.Phe455Cys LP/P rs1603435217 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028536 p.Gly466Glu LP/P rs1304348198 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028537 p.Pro470Leu LP/P rs1240470740 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028538 p.Pro470Arg LP/P rs1240470740 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028539 p.Pro470Thr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028540 p.Gly474Glu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028541 p.Glu475Lys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028542 p.Gly477Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028543 p.Asp478Asn LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028545 p.Phe484Cys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028546 p.Arg490Gly LP/P rs1603435026 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028547 p.Arg503His LP/P rs35383156 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028548 p.Gly513Ser LP/P rs1269117966 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028549 p.Ile522Tyr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028550 p.Trp532Gly LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028551 p.Pro540Thr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028552 p.Thr541Ser LP/P rs139526001 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028553 p.Ser553Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028554 p.Ser554Cys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028555 p.Arg560Thr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028556 p.Asp561Gly LP/P rs137852420 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028557 p.Asp561His LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028558 p.Val578Ala LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028559 p.Asp579Ala LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028560 p.Asp579His LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028561 p.Asn583Ser LP/P rs782657516 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028562 p.Gln584His LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028563 p.Gln584Arg LP/P rs1354815715 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028564 p.Ile585Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028565 p.Asp588Gly LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028566 p.Asp588Tyr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028567 p.Leu594Gln LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028568 p.Asn601Asp LP/P rs1460318222 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028569 p.Asn601Lys LP/P rs1299810903 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028570 p.Arg602Gly LP/P rs137852424 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028571 p.Ser603Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028572 p.Tyr605His LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028573 p.Asn609Ile LP/P rs1253524555 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028574 p.Met633Ile LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028575 p.Ser635Asn LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028576 p.Asn637Asp LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028577 p.Asn637Ser LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028578 p.Tyr639Cys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028579 p.Leu650Phe LP/P rs1557280438 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028580 p.Leu659Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028581 p.Gln664Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028582 p.Met681Ile LP/P rs1603434460 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028583 p.Val682Phe LP/P rs1569559755 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028584 p.Tyr683Cys LP/P rs1384374956 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028585 p.Tyr683Asn LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028586 p.Thr686Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028587 p.Phe698Leu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028588 p.Met699Thr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028589 p.Met701Ile LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028590 p.Gly705Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028591 p.Gly710Trp LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028592 p.Asn713Ile LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028593 p.Arg717Leu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028594 p.Gly720Ser LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028595 p.Met721Ile LP/P rs1218576358 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028596 p.Met721Leu LP/P rs1305924233 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028597 p.Leu725Gln LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028598 p.Tyr742Cys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028599 p.Pro947Arg LP/P rs782318401 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028600 p.Val1012Leu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028601 p.His1066Tyr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028602 p.Gln1336Lys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028603 p.Asn1460Lys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028604 p.Ala1610Ser LP/P rs782127226 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028605 p.Ile1698Thr LP/P rs2073173387 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028606 p.Glu1701Lys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028607 p.Gln1705His LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028608 p.Thr1714Ser LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028609 p.Asp1727Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028610 p.Arg1740Gly LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028611 p.Lys1751Gln LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028612 p.Arg1768His LP/P rs151202877 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028613 p.Leu1771Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028614 p.Leu1777Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028615 p.Gly1779Arg LP/P rs1168919288 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028616 p.Pro1780Leu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028617 p.Ile1782Arg LP/P rs1466581271 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028618 p.Asp1788His LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028619 p.Ala1798Pro LP/P rs1263565590 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028621 p.Pro1801Ala LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028622 p.Tyr1802Cys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028623 p.Glu1848Gly LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028624 p.Ser1858Cys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028625 p.Lys1864Glu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028626 p.His1867Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028627 p.Gly1869Asp LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028628 p.Gly1872Glu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028629 p.Leu1875Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028630 p.Val1876Leu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028631 p.Cys1877Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028632 p.Leu1882Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028633 p.Ile1901Phe LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028634 p.Glu1904Asp LP/P rs1416920499 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028635 p.Ser1907Cys LP/P rs1160914716 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028636 p.Ser1907Arg LP/P rs1364158178 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028637 p.Trp1908Leu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028638 p.Tyr1909Cys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028639 p.Ala1939Thr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028640 p.Ala1939Val US - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028641 p.Met1945Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028642 p.Leu1951Phe LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028643 p.Ser1965Ile LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028644 p.Met1966Ile LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028645 p.Met1966Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028646 p.Ser1968Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028647 p.Asn1971Thr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028648 p.His1973Leu LP/P rs1273080258 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028649 p.His1980Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028650 p.Phe1982Ile LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028651 p.Arg1985Gln LP/P rs1490417405 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028652 p.Leu1994Pro LP/P rs1367630608 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028653 p.Tyr1998Cys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028654 p.Gly2000Ala LP/P rs1343859825 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028655 p.Thr2004Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028656 p.Met2007Ile LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028657 p.Trp2015Cys LP/P rs1190563629 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028658 p.Arg2016Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028659 p.Glu2018Gly LP/P rs1406262850 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028660 p.Gly2022Asp LP/P rs1320622042 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028661 p.Gly2028Arg LP/P rs1603432908 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028662 p.Ser2030Asn LP/P rs369414658 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028663 p.Val2035Ala LP/P rs1603432906 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028664 p.Cys2040Tyr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028665 p.Gly2045Glu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028666 p.Gly2045Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028667 p.Ile2056Asn LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028668 p.Ala2058Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028669 p.Pro2067Leu LP/P rs1348849974 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028670 p.Ala2070Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028671 p.Ser2082Asn LP/P rs1569559494 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028672 p.Asp2093Tyr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028673 p.Gln2106Glu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028674 p.Gln2106Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028675 p.Arg2109Cys LP/P rs1475665992 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028676 p.Ile2117Phe LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028677 p.Ile2117Ser LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028678 p.Gln2119Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028679 p.Phe2120Cys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028680 p.Phe2145Cys LP/P rs1603431562 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028681 p.Asn2157Asp LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028682 p.Pro2162Leu LP/P rs1450770782 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028683 p.Arg2169Cys LP/P rs782641941 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028684 p.Thr2173Ala LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028685 p.His2174Asp LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028686 p.Arg2182Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028687 p.Met2183Arg LP/P rs1405473814 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028688 p.Leu2185Trp LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028689 p.Ser2192Ile LP/P rs782098979 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028691 p.Gly2198Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028692 p.Glu2200Asp LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028693 p.Ala2220Pro LP/P rs782548763 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028695 p.Pro2224Leu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028696 p.Arg2228Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028697 p.Leu2229Phe LP/P rs1603431508 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028698 p.Trp2248Ser LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028699 p.Val2251Ala LP/P rs782479558 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028700 p.Val2251Glu LP/P rs782479558 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028701 p.Thr2264Ala LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028702 p.Phe2279Cys LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028703 p.Phe2279Ile LP/P rs782717799 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028704 p.Ile2281Thr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028705 p.Trp2290Leu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028706 p.Gly2304Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028707 p.Arg2323Gly LP/P rs137852473 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028708 p.Arg2323Leu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028709 p.Arg2326Gly LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028710 p.Arg2326Pro LP/P rs137852360 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028711 p.Gln2330Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028712 p.Trp2332Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028713 p.Arg2339Thr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028714 p.Gly2344Ser LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028715 p.Cys2345Ser LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028716 p.Cys2345Tyr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_048438 p.Lys1289Gln LB/B rs1800292 - F8 P00451 VAR_065303 p.Pro83Arg LP/P rs781974394 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065304 p.Asp186Asn LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065305 p.Leu191Phe LP/P rs1341730743 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065306 p.Leu195Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065307 p.Leu261Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065308 p.Gly280Asp LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065309 p.Ala394Ser LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065310 p.Gly474Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065311 p.Pro496Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065312 p.Gly513Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065313 p.Pro569Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065314 p.Asn637Ile LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065315 p.Ala1720Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065316 p.Phe1762Leu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065317 p.Cys1877Tyr LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065318 p.Gly2013Arg LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065319 p.His2101Asp LP/P rs1603432783 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065320 p.Gln2106Pro LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065321 p.Met2143Val LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065322 p.Pro2172Leu LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065323 p.Asp2286Gly LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065324 p.Ile2336Phe LP/P - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065325 p.Gly2344Asp LP/P rs1557271042 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_075624 p.Pro1828Leu US - Hemophilia A (HEMA) [MIM:306700] F9 P00740 VAR_006520 p.Ile7Phe LB/B rs150190385 - F9 P00740 VAR_006521 p.Ile17Asn LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006522 p.Cys28Arg LP/P rs387906481 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006523 p.Val30Ile LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006524 p.Arg43Gln LP/P rs1275708479 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006525 p.Arg43Leu LP/P rs1275708479 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006526 p.Arg43Trp LP/P rs1603264205 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006527 p.Lys45Asn LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006528 p.Arg46Ser LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006529 p.Arg46Thr LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006530 p.Asn48Ile LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006531 p.Ser49Pro LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006532 p.Glu53Ala LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006533 p.Glu54Gly LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006534 p.Phe55Cys LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006535 p.Gly58Ala LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006536 p.Gly58Arg LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006538 p.Glu66Val LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006539 p.Glu67Lys LP/P rs1410080079 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006540 p.Phe71Ser LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006541 p.Glu73Lys LP/P rs137852225 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006542 p.Glu73Val LP/P rs137852226 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006543 p.Tyr91Cys LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006544 p.Asp93Gly LP/P rs137852230 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006545 p.Gln96Pro LP/P rs137852231 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006546 p.Cys97Ser LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006547 p.Pro101Arg LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006548 p.Cys102Arg LP/P rs1603264719 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006549 p.Gly106Ser LP/P rs137852233 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006550 p.Cys108Ser LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006551 p.Asp110Asn LP/P rs137852274 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006552 p.Ile112Ser LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006553 p.Asn113Lys LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006554 p.Tyr115Cys LP/P rs1603264727 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006555 p.Cys119Phe LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006556 p.Cys119Arg LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006557 p.Gly125Glu LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006558 p.Gly125Val LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006560 p.Ile136Thr LP/P rs1603265481 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006561 p.Gly139Asp LP/P rs1216516070 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006562 p.Gly139Ser LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006563 p.Cys155Phe LP/P rs1330705989 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006564 p.Gly160Glu LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006565 p.Gln167His LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006566 p.Cys178Arg LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006567 p.Cys178Trp LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006568 p.Arg191His LP/P rs137852238 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006569 p.Arg191Cys LP/P rs137852237 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006570 p.Arg226Trp LP/P rs137852240 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006571 p.Arg226Gly LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006572 p.Arg226Gln LP/P rs137852241 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006573 p.Val227Asp LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006574 p.Val228Leu LP/P rs137852243 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006575 p.Gln241His LP/P rs1182648920 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006576 p.Gly253Glu LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006577 p.Gly253Arg LP/P rs1603267181 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006578 p.Ala265Thr LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006579 p.Ala279Thr LP/P rs137852247 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006580 p.Asn283Asp LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006582 p.Arg294Gly LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006583 p.Arg294Gln LP/P rs137852249 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006584 p.His302Arg LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006585 p.Ile316Phe LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006586 p.Leu321Gln LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006587 p.Pro333His LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006588 p.Thr342Lys LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006589 p.Thr342Met LP/P rs137852254 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006590 p.Gly351Asp LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006591 p.Trp356Cys LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006592 p.Gly357Glu LP/P rs137852275 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006593 p.Lys362Glu LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006594 p.Gly363Trp LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006595 p.Ala366Asp LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006596 p.Arg379Gly LP/P rs137852258 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006597 p.Arg379Gln LP/P rs137852259 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006598 p.Cys382Tyr LP/P rs1303221289 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006599 p.Lys387Glu LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006600 p.Ile390Phe LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006601 p.Met394Lys LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006602 p.Cys396Ser LP/P rs137852273 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006603 p.Arg404Thr LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006604 p.Cys407Ser LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006605 p.Gly413Arg LP/P rs1306658513 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006606 p.Val419Glu LP/P rs137852280 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006607 p.Phe424Val LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006608 p.Thr426Pro LP/P rs1928129466 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006609 p.Ser430Thr LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006610 p.Trp431Gly LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006611 p.Trp431Arg LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006612 p.Gly432Ser LP/P rs1170838100 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006613 p.Gly432Val LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006614 p.Glu433Ala LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006615 p.Glu433Lys LP/P rs767828752 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006616 p.Ala436Val LP/P rs137852266 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006618 p.Arg449Gln LP/P rs143018900 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006619 p.Arg449Trp LP/P rs757996262 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006620 p.Tyr450Cys LP/P rs1243180674 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006621 p.Ile454Thr LP/P rs1603267486 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_011773 p.Thr194Ala LB/B rs6048 - F9 P00740 VAR_014308 p.Thr461Pro LB/B rs4149751 - F9 P00740 VAR_017307 p.Ala37Thr LP/P rs367569299 Warfarin sensitivity, X-linked (WARFS) [MIM:301052] F9 P00740 VAR_017308 p.Arg75Gln LP/P rs137852228 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017309 p.Glu79Asp LP/P rs137852229 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017310 p.Val227Phe LP/P rs137852242 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017311 p.Val228Phe LP/P rs137852243 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017312 p.Cys252Ser LP/P rs267606792 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017313 p.Cys268Trp LP/P rs137852246 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017314 p.Glu291Val LP/P rs137852279 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017315 p.Asn306Ser LP/P rs137852251 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017316 p.Gly357Arg LP/P rs137852257 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017317 p.Ala397Pro LP/P rs137852281 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017318 p.Asp410His LP/P rs137852278 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017319 p.Ser411Ile LP/P rs137852276 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017320 p.Ser411Gly LP/P rs137852277 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017321 p.Pro414Thr LP/P rs137852265 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017322 p.Gly442Arg LP/P rs137852267 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017323 p.Ile443Thr LP/P rs137852268 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017324 p.Trp453Arg LP/P rs137852269 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017343 p.Cys28Tyr LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017344 p.Leu52Ser LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017345 p.Thr84Arg LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017346 p.Gly106Asp LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017347 p.Glu124Lys LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017348 p.Gly125Arg LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017349 p.Cys134Tyr LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017350 p.Ser169Cys LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017351 p.Cys170Phe LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017352 p.Gln241Lys LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017353 p.Cys252Tyr LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017354 p.Leu318Arg LP/P rs1222227572 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017355 p.Pro333Thr LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017356 p.Ile344Leu LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017357 p.Leu383Ile LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017358 p.Leu383Phe LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017359 p.Phe395Ile LP/P rs1175050951 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017360 p.Phe395Leu LP/P rs1175050951 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017361 p.Cys396Phe LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017362 p.Cys407Arg LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017363 p.Gly412Glu LP/P rs1233706534 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017364 p.Cys435Tyr LP/P rs1385141619 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017365 p.Gly442Glu LP/P rs1603267474 Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_062999 p.Arg384Leu LP/P rs137852283 Thrombophilia, X-linked, due to factor IX defect (THPH8) [MIM:300807] F9 P00740 VAR_073975 p.Leu20Ser US - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_073976 p.Glu54Asp US - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_073977 p.Gly58Glu US - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_073978 p.Asn138His US - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_073980 p.Val296Met US - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_073981 p.Asn328Lys US - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_073982 p.Asn328Tyr LP/P - Hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_083981 p.Ala37Val LP/P rs1327097914 Warfarin sensitivity, X-linked (WARFS) [MIM:301052] FA2H Q7L5A8 VAR_037503 p.Pro97Ala LB/B rs35874850 - FA2H Q7L5A8 VAR_054893 p.Asp35Tyr LP/P rs121918217 Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration (SPG35) [MIM:612319] FA2H Q7L5A8 VAR_064621 p.Arg235Cys LP/P rs387907039 Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration (SPG35) [MIM:612319] FA2H Q7L5A8 VAR_065245 p.Arg154Cys LP/P rs387907040 Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration (SPG35) [MIM:612319] FAAH O00519 VAR_013563 p.Pro129Thr LB/B rs324420 - FAAH O00519 VAR_035704 p.Ala345Asp US rs772931153 A breast cancer sample FAAP100 Q0VG06 VAR_032582 p.Pro660Leu LB/B rs11552304 - FAAP100 Q0VG06 VAR_032583 p.Thr817Ala LB/B rs14422 - FAAP20 Q6NZ36 VAR_038434 p.Pro126Ser LB/B rs1058411 - FAAP24 Q9BTP7 VAR_029828 p.Ser158Leu LB/B rs2304103 - FAAP24 Q9BTP7 VAR_029829 p.Ile192Thr LB/B rs3816032 - FAAP24 Q9BTP7 VAR_050989 p.Ser126Phe LB/B rs36017455 - FABP1 P07148 VAR_014662 p.Ala54Thr LB/B rs1801273 - FABP1 P07148 VAR_022093 p.Thr94Ala LB/B rs2241883 - FABP2 P12104 VAR_002379 p.Thr55Ala LB/B rs1799883 - FABP3 P05413 VAR_061165 p.Lys53Arg LB/B rs2228194 - FABP4 P15090 VAR_036320 p.Glu23Asp US rs1319351179 A breast cancer sample FABP6 P51161 VAR_039578 p.Arg33His LB/B rs17856662 - FABP6 P51161 VAR_039579 p.Ser55Tyr LB/B rs17852045 - FABP6 P51161 VAR_039580 p.Thr79Met LB/B rs1130435 - FABP7 O15540 VAR_049012 p.Thr61Met LB/B rs2279381 - FADD Q13158 VAR_065124 p.Cys105Trp LP/P rs387906839 Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759] FADS1 O60427 VAR_035340 p.Pro272Ser LB/B rs17856235 - FADS3 Q9Y5Q0 VAR_035341 p.Lys192Asn LB/B rs35479241 - FADS3 Q9Y5Q0 VAR_035342 p.Asn216Lys LB/B rs34511441 - FAH P16930 VAR_005205 p.Asn16Ile LP/P rs121965073 Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005206 p.Phe62Cys LP/P - Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005207 p.Gln64His LP/P rs80338894 Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005208 p.Ala134Asp LP/P rs121965074 Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005209 p.Gly158Asp LP/P - Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005210 p.Val166Gly LP/P rs778387055 Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005211 p.Cys193Arg LP/P - Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005212 p.Gly207Asp LP/P rs754196530 Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005213 p.Asp233Val LP/P rs80338897 Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005214 p.Trp234Gly LP/P rs1555441595 Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005215 p.Pro249Thr LP/P - Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005216 p.Pro261Leu LP/P rs80338898 Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005217 p.Thr294Pro LP/P rs370634385 Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005218 p.Gly337Ser LP/P rs80338900 Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005219 p.Arg341Trp LB/B rs11555096 - FAH P16930 VAR_005220 p.Pro342Leu LP/P rs779040832 Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005222 p.Gly369Val LP/P - Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005223 p.Arg381Gly LP/P rs121965077 Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_005224 p.Phe405His LP/P - Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_065454 p.Ala35Thr LP/P - Tyrosinemia 1 (TYRSN1) [MIM:276700] FAH P16930 VAR_065455 p.Gln279Arg LP/P rs121965078 Tyrosinemia 1 (TYRSN1) [MIM:276700] FAHD1 Q6P587 VAR_049014 p.Asp107Asn LB/B rs3743853 - FAHD2A Q96GK7 VAR_049015 p.Met198Thr LB/B rs1045332 - FAIM Q9NVQ4 VAR_024314 p.Ala117Thr LB/B rs641320 - FAIM Q9NVQ4 VAR_024315 p.Leu127Ser LB/B rs13043 - FAM107A O95990 VAR_017238 p.Leu15Met US - Ovarian cancer FAM107A O95990 VAR_017238 p.Leu15Met US - Renal cell carcinoma cell lines FAM107A O95990 VAR_017239 p.Pro19Leu US - Renal cell carcinoma cell line FAM107A O95990 VAR_049016 p.Ala89Ser LB/B rs1043942 - FAM107A O95990 VAR_049017 p.Glu141Gln LB/B rs11539086 - FAM110A Q9BQ89 VAR_060150 p.Leu284Ile LB/B rs6055290 - FAM110B Q8TC76 VAR_036319 p.Ala214Ser US rs150740446 A colorectal cancer sample FAM110D Q8TAY7 VAR_038860 p.His53Arg LB/B rs3748856 - FAM111A Q96PZ2 VAR_069513 p.Thr338Ala LP/P rs587777014 Gracile bone dysplasia (GCLEB) [MIM:602361] FAM111A Q96PZ2 VAR_069515 p.Tyr511His LP/P rs587777012 Kenny-Caffey syndrome 2 (KCS2) [MIM:127000] FAM111A Q96PZ2 VAR_069516 p.Pro527Thr LP/P rs587777015 Gracile bone dysplasia (GCLEB) [MIM:602361] FAM111A Q96PZ2 VAR_069517 p.Asp528Gly LP/P rs587777013 Gracile bone dysplasia (GCLEB) [MIM:602361] FAM111A Q96PZ2 VAR_069518 p.Arg569His LP/P rs587777011 Kenny-Caffey syndrome 2 (KCS2) [MIM:127000] FAM111B Q6SJ93 VAR_030282 p.Pro731Ala LB/B rs17153376 - FAM111B Q6SJ93 VAR_053821 p.Gly218Asp LB/B rs1060428 - FAM111B Q6SJ93 VAR_070953 p.Tyr621Asp LP/P rs587777236 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704] FAM111B Q6SJ93 VAR_070954 p.Arg627Gly LP/P rs587777237 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704] FAM111B Q6SJ93 VAR_070955 p.Ser628Asn LP/P rs587777238 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704] FAM114A1 Q8IWE2 VAR_030320 p.Gly84Arg LB/B rs11096964 - FAM114A1 Q8IWE2 VAR_030321 p.Leu116Pro LB/B rs11555334 - FAM114A1 Q8IWE2 VAR_030322 p.Pro201Leu LB/B rs430296 - FAM114A1 Q8IWE2 VAR_030323 p.Arg367His LB/B rs2306923 - FAM114A1 Q8IWE2 VAR_030324 p.Val443Ile LB/B rs17429619 - FAM114A1 Q8IWE2 VAR_053823 p.Ser40Leu LB/B rs34137542 - FAM114A1 Q8IWE2 VAR_053824 p.Ser446Leu LB/B rs36058104 - FAM118A Q9NWS6 VAR_022808 p.Val129Leu LB/B rs11556482 - FAM118A Q9NWS6 VAR_022809 p.Arg239His LB/B rs6007594 - FAM120A Q9NZB2 VAR_054400 p.Tyr327His LB/B rs11541747 - FAM120A2P Q5T035 VAR_061600 p.Arg191His LB/B rs36081907 - FAM120AOS Q5T036 VAR_043677 p.Leu22Phe LB/B rs1055710 - FAM120AOS Q5T036 VAR_043678 p.Lys241Glu LB/B rs10821128 - FAM120B Q96EK7 VAR_043021 p.Asp370Tyr LB/B rs6917485 - FAM120B Q96EK7 VAR_043022 p.Met379Thr LB/B rs6905356 - FAM120B Q96EK7 VAR_043023 p.Tyr428Cys LB/B rs6900199 - FAM120B Q96EK7 VAR_043024 p.Asp430Gly LB/B rs6900202 - FAM120B Q96EK7 VAR_043025 p.Ser431Pro LB/B rs6905610 - FAM120B Q96EK7 VAR_043026 p.Pro433Ala LB/B rs6934830 - FAM120B Q96EK7 VAR_043027 p.Tyr440Cys LB/B rs9366138 - FAM120B Q96EK7 VAR_043028 p.Cys511Gly LB/B rs9348266 - FAM120C Q9NX05 VAR_047538 p.Thr82Ile LB/B rs2495783 - FAM120C Q9NX05 VAR_062001 p.Met934Ile LB/B rs41304786 - FAM124A Q86V42 VAR_032098 p.Asp181His LB/B rs17075482 - FAM124B Q9H5Z6 VAR_060151 p.Ile257Thr LB/B rs3738954 - FAM131A Q6UXB0 VAR_036118 p.Ser291Asn US - A breast cancer sample FAM131B Q86XD5 VAR_053920 p.Ala307Thr LB/B rs17854363 - FAM131C Q96AQ9 VAR_031130 p.Lys48Glu LB/B rs2863458 - FAM131C Q96AQ9 VAR_031131 p.Arg107Gln LB/B rs71510977 - FAM131C Q96AQ9 VAR_031132 p.Pro123Arg LB/B rs11576236 - FAM131C Q96AQ9 VAR_031133 p.Ser215Ile LB/B rs1832151 - FAM131C Q96AQ9 VAR_031134 p.Glu226Asp LB/B rs17853749 - FAM133A Q8N9E0 VAR_053907 p.Glu67Lys LB/B rs34123774 - FAM135A Q9P2D6 VAR_037854 p.Ile725Val LB/B rs9455142 - FAM135A Q9P2D6 VAR_037855 p.Pro954Ser LB/B rs16869301 - FAM135A Q9P2D6 VAR_037856 p.Asp1242Gly LB/B rs2747701 - FAM135B Q49AJ0 VAR_053980 p.Ile477Val LB/B rs7835830 - FAM135B Q49AJ0 VAR_053981 p.Asp846Asn LB/B rs2978180 - FAM135B Q49AJ0 VAR_062218 p.Ser578Asn LB/B rs57534956 - FAM135B Q49AJ0 VAR_062219 p.Val1142Ile LB/B rs35765793 - FAM13A O94988 VAR_049019 p.Val769Ile LB/B rs7657817 - FAM13B Q9NYF5 VAR_049020 p.Met802Val LB/B rs33956817 - FAM13C Q8NE31 VAR_047661 p.Pro82His LB/B rs17853626 - FAM149A A5PLN7 VAR_039050 p.Lys332Glu LB/B rs4862650 - FAM149A A5PLN7 VAR_039051 p.Lys437Glu LB/B rs4862653 - FAM149A A5PLN7 VAR_039052 p.His505Arg LB/B rs2276924 - FAM149A A5PLN7 VAR_039053 p.Pro532Leu LB/B rs2276922 - FAM149A A5PLN7 VAR_039054 p.Arg722Trp LB/B rs9991339 - FAM149A A5PLN7 VAR_039055 p.Leu748Val LB/B rs6818265 - FAM149B1 Q96BN6 VAR_060167 p.Gly571Arg LB/B rs12573841 - FAM151A Q8WW52 VAR_037109 p.Asp51Asn LB/B rs17399297 - FAM151A Q8WW52 VAR_037110 p.Asn87Asp LB/B rs17856620 - FAM151A Q8WW52 VAR_037111 p.Ile119Thr LB/B rs17851843 - FAM151A Q8WW52 VAR_037112 p.Ala416Val LB/B rs1368883 - FAM151A Q8WW52 VAR_037113 p.Gly526Ala LB/B rs11206394 - FAM151A Q8WW52 VAR_037114 p.Gly546Asp LB/B rs2289015 - FAM151B Q6UXP7 VAR_053992 p.Ile155Thr LB/B rs369998 - FAM161A Q3B820 VAR_042630 p.Ile236Val LB/B rs17513722 - FAM161A Q3B820 VAR_042631 p.Glu273Lys LB/B rs6733774 - FAM161A Q3B820 VAR_060180 p.Ile107Met LB/B rs11125895 - FAM161B Q96MY7 VAR_027963 p.Gly11Ala LB/B rs11848954 - FAM161B Q96MY7 VAR_027964 p.Leu622Pro LB/B rs17094077 - FAM161B Q96MY7 VAR_069168 p.Lys487Arg LB/B rs28927675 - FAM162A Q96A26 VAR_028849 p.Ala50Val LB/B rs17850692 - FAM162B Q5T6X4 VAR_053782 p.Gln71His LB/B rs654128 - FAM167A Q96KS9 VAR_062205 p.His56Gln LB/B rs3021513 - FAM167A Q96KS9 VAR_062206 p.Thr107Ser LB/B rs3021512 - FAM169BP Q8N8A8 VAR_044345 p.Ser115Pro LB/B rs12101356 - FAM170A A1A519 VAR_047312 p.Pro173Ser LB/B rs328694 - FAM170B A6NMN3 VAR_037062 p.Arg69Leu LB/B rs17773851 - FAM171A1 Q5VUB5 VAR_030220 p.Pro465Ser LB/B rs3814165 - FAM171B Q6P995 VAR_032269 p.Val302Ile LB/B rs17855085 - FAM174B Q3ZCQ3 VAR_039989 p.Ser116Leu LB/B rs34052034 - FAM177B A6PVY3 VAR_039953 p.Ile3Ser LB/B rs2378607 - FAM177B A6PVY3 VAR_054090 p.Gln143Arg LB/B rs6683071 - FAM178B Q8IXR5 VAR_039172 p.Arg645Cys LB/B rs34013660 - FAM180A Q6UWF9 VAR_054081 p.Val96Ile LB/B rs3112374 - FAM180B Q6P0A1 VAR_046379 p.Ala145Thr LB/B rs4486587 - FAM181A Q8N9Y4 VAR_022834 p.Ala28Thr LB/B rs10141024 - FAM181A Q8N9Y4 VAR_057822 p.Leu162Met LB/B rs34220325 - FAM181B A6NEQ2 VAR_039694 p.Val186Leu LB/B rs986097 - FAM181B A6NEQ2 VAR_039695 p.Arg367Pro LB/B rs6592081 - FAM184A Q8NB25 VAR_054101 p.Gln174His LB/B rs34681930 - FAM184A Q8NB25 VAR_054102 p.Val177Gly LB/B rs34977570 - FAM184A Q8NB25 VAR_054103 p.Asp599Asn LB/B rs17827619 - FAM184B Q9ULE4 VAR_039202 p.Asn952Ser LB/B rs16895365 - FAM184B Q9ULE4 VAR_039203 p.Val1042Ala LB/B rs6825562 - FAM185A Q8N0U4 VAR_039356 p.Gly60Ala LB/B rs28695887 - FAM185A Q8N0U4 VAR_084592 p.Leu15Phe LB/B rs141352868 - FAM186A A6NE01 VAR_054419 p.Lys187Gln LB/B rs12303082 - FAM186A A6NE01 VAR_054420 p.Arg1204Gly LB/B rs10876024 - FAM186A A6NE01 VAR_054421 p.Leu1233Pro LB/B rs10876023 - FAM186A A6NE01 VAR_054422 p.His2166Tyr LB/B rs7296291 - FAM186A A6NE01 VAR_054423 p.Met2193Ile LB/B rs6580742 - FAM186A A6NE01 VAR_054424 p.His2228Gln LB/B rs6580741 - FAM186A A6NE01 VAR_054425 p.Gln2316Glu LB/B rs12809349 - FAM186B Q8IYM0 VAR_027777 p.Val397Met LB/B rs17853450 - FAM186B Q8IYM0 VAR_027778 p.Glu553Gln LB/B rs12299908 - FAM187B Q17R55 VAR_031790 p.Pro3Ser LB/B rs34873156 - FAM187B Q17R55 VAR_031791 p.Cys160Arg LB/B rs565791 - FAM187B Q17R55 VAR_031792 p.Val216Ile LB/B rs564117 - FAM193A P78312 VAR_022863 p.Met192Val LB/B rs17164077 - FAM193A P78312 VAR_056783 p.Ile1115Val LB/B rs17681870 - FAM193B Q96PV7 VAR_045619 p.Ser816Pro LB/B rs337382 - FAM200C Q8IZ13 VAR_046179 p.Ala523Ser LB/B rs10515808 - FAM209A Q5JX71 VAR_029621 p.Val66Ala LB/B rs707554 - FAM209A Q5JX71 VAR_029622 p.Met117Lys LB/B rs1054349 - FAM209A Q5JX71 VAR_029623 p.Arg135Gly LB/B rs1054358 - FAM209A Q5JX71 VAR_029624 p.Arg146Lys LB/B rs1054361 - FAM209A Q5JX71 VAR_033761 p.Leu95Phe LB/B rs1054343 - FAM209B Q5JX69 VAR_033762 p.Glu129Ala LB/B rs2296129 - FAM209B Q5JX69 VAR_050918 p.Gln74Lys LB/B rs3209183 - FAM209B Q5JX69 VAR_061633 p.Glu84Lys LB/B rs61440263 - FAM20A Q96MK3 VAR_059282 p.Asn332Lys LB/B rs2302234 - FAM20A Q96MK3 VAR_059283 p.Leu530Ser LB/B rs2907373 - FAM20A Q96MK3 VAR_072170 p.Leu173Arg LP/P - Amelogenesis imperfecta 1G (AI1G) [MIM:204690] FAM20A Q96MK3 VAR_072171 p.Gly331Asp LP/P rs981673034 Amelogenesis imperfecta 1G (AI1G) [MIM:204690] FAM20A Q96MK3 VAR_072172 p.Asp403Asn LP/P rs377432171 Amelogenesis imperfecta 1G (AI1G) [MIM:204690] FAM20C Q8IXL6 VAR_037530 p.Gly379Glu LP/P rs796051852 Raine syndrome (RNS) [MIM:259775] FAM20C Q8IXL6 VAR_037531 p.Gly379Arg LP/P - Raine syndrome (RNS) [MIM:259775] FAM20C Q8IXL6 VAR_037532 p.Leu388Arg LP/P rs796051849 Raine syndrome (RNS) [MIM:259775] FAM20C Q8IXL6 VAR_037533 p.Arg549Trp LP/P rs796051850 Raine syndrome (RNS) [MIM:259775] FAM20C Q8IXL6 VAR_073660 p.Ile258Asn LP/P - Raine syndrome (RNS) [MIM:259775] FAM20C Q8IXL6 VAR_073661 p.Thr268Met LP/P rs778899041 Raine syndrome (RNS) [MIM:259775] FAM20C Q8IXL6 VAR_073662 p.Gly280Arg LP/P rs779708323 Raine syndrome (RNS) [MIM:259775] FAM20C Q8IXL6 VAR_073663 p.Pro328Ser LP/P rs797044462 Raine syndrome (RNS) [MIM:259775] FAM20C Q8IXL6 VAR_073664 p.Asp451Asn LP/P - Raine syndrome (RNS) [MIM:259775] FAM210A Q96ND0 VAR_035686 p.Arg82His US rs116967198 A breast cancer sample FAM210A Q96ND0 VAR_035687 p.Val140Glu US - A breast cancer sample FAM210A Q96ND0 VAR_056844 p.Tyr39Asn LB/B rs35493157 - FAM210A Q96ND0 VAR_060439 p.Glu167Lys LB/B rs2847146 - FAM210B Q96KR6 VAR_033763 p.Pro126Ser LB/B rs6099115 - FAM216A Q8WUB2 VAR_032513 p.Arg225Gly LB/B rs17188964 - FAM216B Q8N7L0 VAR_033743 p.Arg134Cys LB/B rs35889214 - FAM217A Q8IXS0 VAR_023207 p.Val431Ile LB/B rs595413 - FAM217A Q8IXS0 VAR_056801 p.Ala258Thr LB/B rs639905 - FAM217A Q8IXS0 VAR_056802 p.Gln309Pro LB/B rs10080405 - FAM217A Q8IXS0 VAR_056803 p.Cys360Ser LB/B rs17137618 - FAM217A Q8IXS0 VAR_056804 p.Met442Val LB/B rs10485172 - FAM217B Q9NTX9 VAR_035691 p.Ser95Gly US rs1180582304 A breast cancer sample FAM217B Q9NTX9 VAR_050922 p.Tyr380Cys LB/B rs6027210 - FAM218A Q96MZ4 VAR_044025 p.His54Arg LB/B rs3733418 - FAM220A Q7Z4H9 VAR_039375 p.Gly71Arg LB/B rs3750041 - FAM220A Q7Z4H9 VAR_039376 p.Arg127Gln LB/B rs3750040 - FAM220A Q7Z4H9 VAR_039377 p.Val161Leu LB/B rs3750039 - FAM220A Q7Z4H9 VAR_039378 p.Val198Met LB/B rs6952125 - FAM220A Q7Z4H9 VAR_039379 p.Gly237Ser LB/B rs2241445 - FAM220BP B1ANY3 VAR_050820 p.Trp162Arg LB/B rs1832322 - FAM220BP B1ANY3 VAR_050821 p.Lys199Asn LB/B rs1832323 - FAM220BP B1ANY3 VAR_050822 p.Lys203Asn LB/B rs12336220 - FAM221A A4D161 VAR_033215 p.Tyr20His LB/B rs17855785 - FAM221A A4D161 VAR_033216 p.Ala90Thr LB/B rs34518648 - FAM221A A4D161 VAR_033217 p.Cys95Arg LB/B rs35495590 - FAM221A A4D161 VAR_033218 p.His128Arg LB/B rs17855786 - FAM221A A4D161 VAR_033219 p.Ser240Gly LB/B rs35928055 - FAM221B A6H8Z2 VAR_061598 p.His34Arg LB/B rs13294256 - FAM221B A6H8Z2 VAR_061599 p.Lys41Glu LB/B rs13294245 - FAM222B Q8WU58 VAR_050900 p.Leu471Ser LB/B rs2043031 - FAM222B Q8WU58 VAR_050901 p.Gly542Ser LB/B rs36029715 - FAM228A Q86W67 VAR_046178 p.Tyr140Cys LB/B rs2288073 - FAM241A Q8N8J7 VAR_032150 p.Pro46Gln LB/B rs17852081 - FAM24B Q8N5W8 VAR_038485 p.Pro2Leu LB/B rs1891110 - FAM25A B3EWG3 VAR_054062 p.Val35Leu LB/B rs7079587 - FAM3A P98173 VAR_011923 p.Trp213Cys LB/B rs1050788 - FAM3A P98173 VAR_057531 p.Ile21Met LB/B rs35985994 - FAM3B P58499 VAR_021953 p.Val14Met LB/B rs2838012 - FAM3D Q96BQ1 VAR_053087 p.Pro60Ser LB/B rs17059569 - FAM3D Q96BQ1 VAR_053088 p.Ala118Ser LB/B rs33966924 - FAM47A Q5JRC9 VAR_054412 p.Phe50Leu LB/B rs17856750 - FAM47A Q5JRC9 VAR_054413 p.Val232Glu LB/B rs17856751 - FAM47A Q5JRC9 VAR_054414 p.Ala377Ser LB/B rs1811716 - FAM47A Q5JRC9 VAR_054416 p.Gly531Arg LB/B rs5971820 - FAM47C Q5HY64 VAR_046358 p.Asn924Thr LB/B rs1995914 - FAM50A Q14320 VAR_084563 p.Ala137Val LB/B rs149558328 - FAM50A Q14320 VAR_084564 p.Glu143Lys LB/B rs782017549 - FAM50A Q14320 VAR_084565 p.Trp206Gly US rs2068793121 Intellectual developmental disorder, X-linked, syndromic, Armfield type (MRXSA) [MIM:300261] FAM50A Q14320 VAR_084566 p.Glu254Gly LP/P rs2068797150 Intellectual developmental disorder, X-linked, syndromic, Armfield type (MRXSA) [MIM:300261] FAM50A Q14320 VAR_084567 p.Asp255Gly LP/P rs2068797192 Intellectual developmental disorder, X-linked, syndromic, Armfield type (MRXSA) [MIM:300261] FAM50A Q14320 VAR_084568 p.Asp255Asn LP/P rs2068797171 Intellectual developmental disorder, X-linked, syndromic, Armfield type (MRXSA) [MIM:300261] FAM50A Q14320 VAR_084569 p.Arg273Trp LP/P rs2068798311 Intellectual developmental disorder, X-linked, syndromic, Armfield type (MRXSA) [MIM:300261] FAM53C Q9NYF3 VAR_053089 p.Arg21Cys LB/B rs35360938 - FAM72B Q86X60 VAR_044011 p.Gly82Val LB/B rs17838150 - FAM72B Q86X60 VAR_044012 p.Pro94Leu LB/B rs1572701 - FAM74A7 A6NL05 VAR_045629 p.Asp12Tyr LB/B rs11793234 - FAM74A7 A6NL05 VAR_045630 p.Arg72Lys LB/B rs2261191 - FAM74A7 A6NL05 VAR_045631 p.Arg86Thr LB/B rs6423979 - FAM81B Q96LP2 VAR_057968 p.Arg150Gly LB/B rs10042271 - FAM81B Q96LP2 VAR_057969 p.Ala187Val LB/B rs11555275 - FAM81B Q96LP2 VAR_057970 p.Arg239Gln LB/B rs1541797 - FAM81B Q96LP2 VAR_057971 p.Ser275Pro LB/B rs6878669 - FAM83A Q86UY5 VAR_032178 p.Ala237Thr LB/B rs7813708 - FAM83B Q5T0W9 VAR_034638 p.Asn410Ser LB/B rs13211183 - FAM83B Q5T0W9 VAR_034639 p.Ser435Arg LB/B rs9475076 - FAM83B Q5T0W9 VAR_034640 p.Lys640Thr LB/B rs239798 - FAM83B Q5T0W9 VAR_034641 p.Thr907Asn LB/B rs9475077 - FAM83C Q9BQN1 VAR_021946 p.Arg621Gln LB/B rs2425049 - FAM83C Q9BQN1 VAR_053900 p.Glu134Lys LB/B rs35162625 - FAM83C Q9BQN1 VAR_053901 p.Tyr600His LB/B rs35560631 - FAM83C Q9BQN1 VAR_053902 p.Arg645Cys LB/B rs35518957 - FAM83E Q2M2I3 VAR_038130 p.Thr91Ala LB/B rs447802 - FAM83E Q2M2I3 VAR_038131 p.Pro311Leu LB/B rs3745728 - FAM83E Q2M2I3 VAR_038132 p.Arg372His LB/B rs3745727 - FAM83F Q8NEG4 VAR_038134 p.Arg245Ser LB/B rs12330063 - FAM83F Q8NEG4 VAR_038135 p.Gly353Ser LB/B rs35823589 - FAM83F Q8NEG4 VAR_038136 p.Ala418Val US - A breast cancer sample FAM83F Q8NEG4 VAR_038137 p.Arg436Gly LB/B rs5995794 - FAM83G A6ND36 VAR_053903 p.Ile109Thr LB/B rs2074283 - FAM83G A6ND36 VAR_075713 p.Leu64Phe US rs371100508 - FAM83G A6ND36 VAR_075714 p.Arg630Trp US rs201046878 - FAM83H Q6ZRV2 VAR_062189 p.Gln201His LB/B rs9969600 - FAM83H Q6ZRV2 VAR_073954 p.Gly557Cys LP/P rs312262803 Amelogenesis imperfecta 3A (AI3A) [MIM:130900] FAM86B2 P0C5J1 VAR_036617 p.Asp43Tyr LB/B rs2684093 - FAM86B2 P0C5J1 VAR_036618 p.Arg285Ser LB/B rs7817085 - FAM86C1P Q9NVL1 VAR_036619 p.Ala7Ser LB/B rs12283300 - FAM86C1P Q9NVL1 VAR_036620 p.Arg30Pro LB/B rs12283346 - FAM86C1P Q9NVL1 VAR_036621 p.Val70Ala LB/B rs3935309 - FAM86C1P Q9NVL1 VAR_062211 p.Pro135Leu LB/B rs57679800 - FAM90A1 Q86YD7 VAR_057778 p.Ala234Glu LB/B rs9668582 - FAM90A1 Q86YD7 VAR_060154 p.Arg343Ser LB/B rs9668475 - FAM90A1 Q86YD7 VAR_060155 p.Thr410Ala LB/B rs11044098 - FAM90A1 Q86YD7 VAR_060293 p.Arg123Gly LB/B rs9738115 - FAM90A1 Q86YD7 VAR_060294 p.Pro334Leu LB/B rs17855656 - FAM90A1 Q86YD7 VAR_060295 p.Thr348Ile LB/B rs9668474 - FAM91A1 Q658Y4 VAR_057768 p.Ile704Val LB/B rs6470187 - FAM91A1 Q658Y4 VAR_067449 p.Cys800Tyr LB/B rs1946586 - FAM98C Q17RN3 VAR_049030 p.Thr240Lys LB/B rs3745962 - FAN1 Q9Y2M0 VAR_037167 p.Gly233Glu LB/B rs4779794 - FAN1 Q9Y2M0 VAR_068958 p.Cys871Arg LP/P - Interstitial nephritis, karyomegalic (KMIN) [MIM:614817] FAN1 Q9Y2M0 VAR_068959 p.Gln929Pro LP/P - Interstitial nephritis, karyomegalic (KMIN) [MIM:614817] FAN1 Q9Y2M0 VAR_068960 p.Gly937Asp LP/P rs1270571213 Interstitial nephritis, karyomegalic (KMIN) [MIM:614817] FAN1 Q9Y2M0 VAR_068961 p.Asp960Asn LP/P rs751703979 Interstitial nephritis, karyomegalic (KMIN) [MIM:614817] FANCA O15360 VAR_009637 p.Val6Asp LB/B rs1800282 - FANCA O15360 VAR_009638 p.Asn8Lys LP/P rs76275444 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_009639 p.Ala181Val LP/P rs17232246 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_009640 p.Leu244Phe LP/P rs2040522671 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_009641 p.Asp252Gly LP/P rs17225943 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_009642 p.Arg435Cys LP/P rs148473140 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_009643 p.His492Arg LP/P rs925457555 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_009644 p.Gly501Ser LB/B rs2239359 - FANCA O15360 VAR_009645 p.Pro739Leu LB/B rs45441106 - FANCA O15360 VAR_009646 p.Gly809Asp LB/B rs7195066 - FANCA O15360 VAR_009647 p.Leu817Pro LP/P - Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_009648 p.Leu845Pro LP/P rs1173704265 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_009649 p.Arg1055Leu LP/P rs1429943036 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_009650 p.His1110Pro LP/P - Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_009651 p.Arg1117Gly LP/P rs149277003 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_009652 p.Gln1128Glu LP/P rs1439817346 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_009653 p.Thr1131Ala LP/P rs574034197 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_009655 p.Val1287Ile LB/B rs17227354 - FANCA O15360 VAR_009656 p.Trp1302Arg LP/P rs878853665 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_009657 p.Thr1328Ala LB/B rs9282681 - FANCA O15360 VAR_009658 p.His1417Asp LP/P rs17227403 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_017496 p.Thr266Ala LB/B rs7190823 - FANCA O15360 VAR_017497 p.Asp598Asn LP/P rs2039605345 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_017498 p.Ser858Arg LP/P rs17233141 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_017499 p.Arg1055Trp LP/P rs753063086 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_017500 p.Leu1082Pro LP/P - Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_017501 p.Ser1088Phe LP/P rs17233497 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_017502 p.Phe1262Leu LP/P rs1555534579 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_017503 p.Asp1359Tyr LP/P rs1555533313 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_017504 p.Met1360Ile LP/P rs1555533300 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_017505 p.Pro1324Leu LP/P rs182657062 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_038012 p.Leu210Arg LP/P rs2040601073 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_038013 p.Leu660Pro LP/P rs1567621042 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_038014 p.Val761Glu LB/B rs2039276663 - FANCA O15360 VAR_038015 p.Tyr843Asp LP/P rs374030577 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_038016 p.Gln869Pro LP/P rs780825099 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_038017 p.Arg951Gln LB/B rs755922289 - FANCA O15360 VAR_038018 p.Arg951Trp LB/B rs755546887 - FANCA O15360 VAR_038019 p.Leu1249Pro LP/P rs753316789 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_038020 p.Ala1346Thr LP/P rs17227396 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_038021 p.Arg1400His LP/P rs149851163 Fanconi anemia, complementation group A (FANCA) [MIM:227650] FANCA O15360 VAR_050982 p.Thr131Ser LB/B rs34491278 - FANCA O15360 VAR_050983 p.Ser176Phe LB/B rs35566151 - FANCA O15360 VAR_050984 p.Ala277Gly LB/B rs35880318 - FANCA O15360 VAR_050985 p.Gln286Arg LB/B rs13336566 - FANCA O15360 VAR_050986 p.Ala412Val LB/B rs11646374 - FANCA O15360 VAR_050987 p.Pro643Ala LB/B rs17232910 - FANCA O15360 VAR_061649 p.Met717Ile LB/B rs1131660 - FANCB Q8NB91 VAR_069426 p.Ile330Thr LB/B rs200161949 - FANCC Q00597 VAR_005225 p.Ser26Phe LB/B rs1800361 - FANCC Q00597 VAR_005226 p.Gly139Glu LB/B rs1800362 - FANCC Q00597 VAR_005227 p.Leu190Phe LB/B rs1800364 - FANCC Q00597 VAR_005228 p.Asp195Val LP/P rs1800365 Fanconi anemia complementation group C (FANCC) [MIM:227645] FANCC Q00597 VAR_005229 p.Ile312Val LB/B rs1800366 - FANCC Q00597 VAR_005230 p.Val449Met LB/B rs1800367 - FANCC Q00597 VAR_005231 p.Gln465Arg LB/B rs1800368 - FANCC Q00597 VAR_005232 p.Leu496Arg LP/P rs121917785 Fanconi anemia complementation group C (FANCC) [MIM:227645] FANCC Q00597 VAR_005233 p.Leu554Pro LP/P rs104886458 Fanconi anemia complementation group C (FANCC) [MIM:227645] FANCC Q00597 VAR_016339 p.Ile80Thr LB/B rs4647419 - FANCD2 Q9BXW9 VAR_022559 p.Ser126Gly LP/P rs764507146 Fanconi anemia complementation group D2 (FANCD2) [MIM:227646] FANCD2 Q9BXW9 VAR_022560 p.Arg302Trp LP/P rs121917787 Fanconi anemia complementation group D2 (FANCD2) [MIM:227646] FANCD2 Q9BXW9 VAR_022561 p.Pro714Leu LB/B rs3864017 - FANCD2 Q9BXW9 VAR_022562 p.Arg1236His LP/P rs121917786 Fanconi anemia complementation group D2 (FANCD2) [MIM:227646] FANCD2 Q9BXW9 VAR_025827 p.Lys33Arg LB/B rs34691009 - FANCD2 Q9BXW9 VAR_025828 p.Thr61Met LB/B rs35110529 - FANCD2 Q9BXW9 VAR_025829 p.Gln65His LB/B rs36084488 - FANCD2 Q9BXW9 VAR_025830 p.Ile172Met LB/B rs35173688 - FANCD2 Q9BXW9 VAR_025831 p.Thr193Ala LB/B rs34936017 - FANCD2 Q9BXW9 VAR_025832 p.Arg328Gln LB/B rs35625434 - FANCD2 Q9BXW9 VAR_025833 p.Leu446Val LB/B rs34557223 - FANCD2 Q9BXW9 VAR_025834 p.Leu456Arg LB/B rs35782247 - FANCD2 Q9BXW9 VAR_025835 p.Gln623Pro LB/B rs36070315 - FANCD2 Q9BXW9 VAR_025836 p.Lys865Arg LB/B rs35546777 - FANCD2 Q9BXW9 VAR_025837 p.Gly901Val LB/B rs35495399 - FANCE Q9HB96 VAR_023372 p.Arg89Leu LB/B rs45600543 - FANCE Q9HB96 VAR_023373 p.Ser204Leu LB/B rs7761870 - FANCE Q9HB96 VAR_023374 p.Gly340Arg LB/B rs45524646 - FANCE Q9HB96 VAR_023375 p.Arg343Gln LB/B rs45467798 - FANCE Q9HB96 VAR_023376 p.Ala502Thr LB/B rs9462088 - FANCE Q9HB96 VAR_038022 p.Pro184Gln US - Fanconi anemia complementation group E (FANCE) [MIM:600901] FANCF Q9NPI8 VAR_022270 p.Pro320Leu LB/B rs45451294 - FANCF Q9NPI8 VAR_050988 p.Val295Ile LB/B rs7103293 - FANCG O15287 VAR_017495 p.Leu71Pro LP/P - Fanconi anemia complementation group G (FANCG) [MIM:614082] FANCG O15287 VAR_020311 p.Thr297Ile LB/B rs2237857 - FANCG O15287 VAR_021103 p.Gly294Glu LB/B rs17880082 - FANCG O15287 VAR_021104 p.Pro330Ser LB/B rs4986940 - FANCG O15287 VAR_021105 p.Ser378Leu LB/B rs4986939 - FANCG O15287 VAR_021106 p.Lys430Glu LB/B rs17881054 - FANCG O15287 VAR_021107 p.Arg513Gln LB/B rs17885240 - FANCG O15287 VAR_021108 p.Ser603Phe LB/B rs17878854 - FANCG O15287 VAR_035864 p.Ala607Thr US rs758407400 A colorectal cancer sample FANCI Q9NVI1 VAR_027278 p.Gln686Lys LB/B rs28378332 - FANCI Q9NVI1 VAR_027279 p.Cys742Ser LB/B rs2283432 - FANCI Q9NVI1 VAR_032689 p.Pro55Leu LP/P rs62020347 Fanconi anemia complementation group I (FANCI) [MIM:609053] FANCI Q9NVI1 VAR_032690 p.Ala86Val LB/B rs17803620 - FANCI Q9NVI1 VAR_032691 p.His858Tyr LP/P - Fanconi anemia complementation group I (FANCI) [MIM:609053] FANCI Q9NVI1 VAR_032692 p.Arg1285Gln LP/P rs121918163 Fanconi anemia complementation group I (FANCI) [MIM:609053] FANCL Q9NW38 VAR_052082 p.Ser144Phe LB/B rs36059257 - FANCM Q8IYD8 VAR_023697 p.Ser175Phe LB/B rs10138997 - FANCM Q8IYD8 VAR_023698 p.Val878Leu LB/B rs1367580 - FANCM Q8IYD8 VAR_023699 p.Pro1812Ala LB/B rs3736772 - FANCM Q8IYD8 VAR_061827 p.Ile208Met LB/B rs45547534 - FANK1 Q8TC84 VAR_024176 p.Leu329Val LB/B rs1666 - FANK1 Q8TC84 VAR_027896 p.Arg46Ser LB/B rs17153882 - FANK1 Q8TC84 VAR_048296 p.Pro12Leu LB/B rs17153879 - FANK1 Q8TC84 VAR_048297 p.Cys343Phe LB/B rs17153976 - FAP Q12884 VAR_071264 p.Ser363Leu LB/B rs762738740 - FAR1 Q8WVX9 VAR_053800 p.Glu96Lys LB/B rs12793516 - FAR1 Q8WVX9 VAR_072693 p.Asp365Gly LP/P rs724159963 Peroxisomal fatty acyl-CoA reductase 1 disorder (PFCRD) [MIM:616154] FAR1 Q8WVX9 VAR_085711 p.Arg480Cys LP/P rs12799308 Cataracts, spastic paraparesis, and speech delay (CSPSD) [MIM:619338] FAR1 Q8WVX9 VAR_085712 p.Arg480His LP/P rs1057517926 Cataracts, spastic paraparesis, and speech delay (CSPSD) [MIM:619338] FAR1 Q8WVX9 VAR_085713 p.Arg480Leu LP/P rs1057517926 Cataracts, spastic paraparesis, and speech delay (CSPSD) [MIM:619338] FARP1 Q9Y4F1 VAR_035851 p.Arg714Leu US rs1458028855 A breast cancer sample FARP1 Q9Y4F1 VAR_048362 p.Pro8Leu LB/B rs9300466 - FARP2 O94887 VAR_048363 p.Lys185Asn LB/B rs16843643 - FARP2 O94887 VAR_048364 p.Thr260Ile LB/B rs757978 - FARP2 O94887 VAR_048365 p.Val643Ile LB/B rs41342147 - FARS2 O95363 VAR_052642 p.Ser57Cys LB/B rs34382405 - FARS2 O95363 VAR_052643 p.Asn280Ser LB/B rs11243011 - FARS2 O95363 VAR_069487 p.Tyr144Cys LP/P rs397514610 Combined oxidative phosphorylation deficiency 14 (COXPD14) [MIM:614946] FARS2 O95363 VAR_069488 p.Ile329Thr LP/P rs397514611 Combined oxidative phosphorylation deficiency 14 (COXPD14) [MIM:614946] FARS2 O95363 VAR_069489 p.Asp391Val LP/P rs397514612 Combined oxidative phosphorylation deficiency 14 (COXPD14) [MIM:614946] FARS2 O95363 VAR_077044 p.Asp142Tyr LP/P rs145555213 Spastic paraplegia 77, autosomal recessive (SPG77) [MIM:617046] FARSA Q9Y285 VAR_052641 p.Gln341Arg LB/B rs35087277 - FARSA Q9Y285 VAR_084994 p.Phe256Leu US rs941586004 Rajab interstitial lung disease with brain calcifications 2 (RILDBC2) [MIM:619013] FARSA Q9Y285 VAR_084995 p.Asn410Lys US rs1971301248 Rajab interstitial lung disease with brain calcifications 2 (RILDBC2) [MIM:619013] FARSB Q9NSD9 VAR_071245 p.Val585Ile LB/B rs7185 - FARSB Q9NSD9 VAR_081054 p.Cys76Arg LP/P rs1419129874 Rajab interstitial lung disease with brain calcifications 1 (RILDBC1) [MIM:613658] FARSB Q9NSD9 VAR_081055 p.Phe252Ser LP/P rs1466642025 Rajab interstitial lung disease with brain calcifications 1 (RILDBC1) [MIM:613658] FARSB Q9NSD9 VAR_081056 p.Thr256Met LP/P rs753710639 Rajab interstitial lung disease with brain calcifications 1 (RILDBC1) [MIM:613658] FARSB Q9NSD9 VAR_081057 p.Lys262Glu LP/P rs1553554543 Rajab interstitial lung disease with brain calcifications 1 (RILDBC1) [MIM:613658] FARSB Q9NSD9 VAR_081058 p.Glu285Lys LP/P rs767956337 Rajab interstitial lung disease with brain calcifications 1 (RILDBC1) [MIM:613658] FARSB Q9NSD9 VAR_081059 p.Arg305Gln LP/P rs773579570 Rajab interstitial lung disease with brain calcifications 1 (RILDBC1) [MIM:613658] FARSB Q9NSD9 VAR_081060 p.Arg401Gln LP/P rs1553553086 Rajab interstitial lung disease with brain calcifications 1 (RILDBC1) [MIM:613658] FARSB Q9NSD9 VAR_081061 p.Thr461Pro LP/P rs1396171148 Rajab interstitial lung disease with brain calcifications 1 (RILDBC1) [MIM:613658] FAS P25445 VAR_013416 p.Ala25Thr US rs606231364 Non-Hodgkin lymphoma FAS P25445 VAR_013417 p.Thr28Ala LP/P - Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013418 p.Cys82Arg LP/P - Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013419 p.Arg121Trp LP/P rs121913078 Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013420 p.Leu180Phe US - Non-Hodgkin lymphoma FAS P25445 VAR_013421 p.Pro183Leu US rs758835365 Non-Hodgkin lymphoma FAS P25445 VAR_013422 p.Thr198Ile US - Non-Hodgkin lymphoma FAS P25445 VAR_013423 p.Tyr232Cys LP/P rs121913079 Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013424 p.Thr241Lys LP/P rs201072885 Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013425 p.Thr241Pro LP/P rs121913076 Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013426 p.Arg250Pro LP/P rs121913080 Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013427 p.Arg250Gln LP/P - Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013428 p.Ala257Asp LP/P rs1848674892 Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013429 p.Asp260Gly LP/P - Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013430 p.Asp260Tyr LP/P rs121913086 Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013431 p.Asp260Val LP/P rs28929498 Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013432 p.Asn264Lys US - Non-Hodgkin lymphoma FAS P25445 VAR_013433 p.Thr270Ile LP/P rs121913081 Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013434 p.Glu272Gly LP/P - Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013435 p.Glu272Lys LP/P - Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013436 p.Leu278Phe US - Non-Hodgkin lymphoma FAS P25445 VAR_013437 p.Lys299Asn US - Non-Hodgkin lymphoma FAS P25445 VAR_013438 p.Ile310Ser LP/P - Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_018321 p.Asn118Ser US rs121913083 Squamous cell carcinoma FAS P25445 VAR_018322 p.Cys178Arg US rs121913084 Squamous cell carcinoma FAS P25445 VAR_018323 p.Asn255Asp US rs121913082 Squamous cell carcinoma FAS P25445 VAR_020008 p.Ala16Thr LB/B rs3218619 - FAS P25445 VAR_020009 p.Thr122Ile LB/B rs3218614 - FAS P25445 VAR_020942 p.Thr305Ile LB/B rs3218611 - FAS P25445 VAR_052347 p.Ile184Val LB/B rs28362322 - FAS P25445 VAR_058910 p.Ile262Ser LP/P - Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_065128 p.Val249Leu LP/P - Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_065129 p.Gly253Asp LP/P - Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_065130 p.Gly253Ser LP/P - Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_065131 p.Ile259Arg LP/P - Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_065132 p.Thr270Lys LP/P - Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FASLG P48023 VAR_052583 p.Tyr189Ser LB/B rs12079514 - FASLG P48023 VAR_075568 p.Cys202Ser LP/P - Autoimmune lymphoproliferative syndrome 1B (ALPS1B) [MIM:601859] FASN P49327 VAR_055479 p.Val1483Ile LB/B rs2228305 - FASN P49327 VAR_055480 p.Arg1694His LB/B rs561903908 - FASN P49327 VAR_055481 p.Ile1888Val LB/B rs2228307 - FASN P49327 VAR_079534 p.Arg477His LB/B rs113931914 - FASTK Q14296 VAR_021970 p.Ala436Val LB/B rs2288648 - FASTK Q14296 VAR_042200 p.Val424Leu US rs758691941 A lung adenocarcinoma sample FASTKD1 Q53R41 VAR_031806 p.Glu384Gln LB/B rs12618227 - FASTKD1 Q53R41 VAR_031807 p.Cys446Gly LB/B rs35106223 - FASTKD1 Q53R41 VAR_031808 p.Met467Val LB/B rs2253680 - FASTKD2 Q9NYY8 VAR_053889 p.Ser15Asn LB/B rs3762568 - FASTKD2 Q9NYY8 VAR_053890 p.Val445Glu LB/B rs13003768 - FASTKD2 Q9NYY8 VAR_084341 p.Leu255Pro US - Combined oxidative phosphorylation deficiency 44 (COXPD44) [MIM:618855] FASTKD3 Q14CZ7 VAR_031809 p.Lys56Arg LB/B rs2966952 - FASTKD3 Q14CZ7 VAR_031810 p.Glu459Gly LB/B rs16879259 - FASTKD3 Q14CZ7 VAR_036161 p.Leu22Val US - A breast cancer sample FASTKD3 Q14CZ7 VAR_057769 p.Leu3Phe LB/B rs3733782 - FASTKD5 Q7L8L6 VAR_053891 p.Arg256Cys LB/B rs3746700 - FASTKD5 Q7L8L6 VAR_053892 p.Ile288Thr LB/B rs2422857 - FASTKD5 Q7L8L6 VAR_053893 p.Ile377Val LB/B rs3746699 - FAT1 Q14517 VAR_055590 p.Ala131Val LB/B rs3733415 - FAT1 Q14517 VAR_055591 p.Asn1330Ser LB/B rs874111 - FAT1 Q14517 VAR_055592 p.Ala1564Thr LB/B rs2304867 - FAT1 Q14517 VAR_055593 p.Asn1605Asp LB/B rs6836935 - FAT1 Q14517 VAR_055594 p.Pro3800His LB/B rs11731738 - FAT1 Q14517 VAR_076441 p.Arg902Ser LB/B rs555992573 - FAT1 Q14517 VAR_076442 p.Ile1393Val LB/B rs753226094 - FAT1 Q14517 VAR_076443 p.Asn3732Ser LB/B rs373241719 - FAT1 Q14517 VAR_080732 p.Pro546Leu US rs1373737710 - FAT1 Q14517 VAR_080733 p.Glu1147Asp US rs1383300308 - FAT1 Q14517 VAR_080734 p.Asp1930His US rs748622474 - FAT1 Q14517 VAR_080735 p.Thr4422Met US rs1409256573 - FAT2 Q9NYQ8 VAR_055595 p.Gly201Ala LB/B rs11739693 - FAT2 Q9NYQ8 VAR_055596 p.Pro248Ser LB/B rs3734061 - FAT2 Q9NYQ8 VAR_055597 p.Arg574Cys LB/B rs1432862 - FAT2 Q9NYQ8 VAR_055598 p.Phe686Ser LB/B rs9324700 - FAT2 Q9NYQ8 VAR_055599 p.Arg992Gln LB/B rs3734056 - FAT2 Q9NYQ8 VAR_055600 p.Gly1004Ser LB/B rs3734055 - FAT2 Q9NYQ8 VAR_055601 p.Pro1164Leu LB/B rs2304053 - FAT2 Q9NYQ8 VAR_055602 p.Val1462Met LB/B rs2278371 - FAT2 Q9NYQ8 VAR_055603 p.Gly1515Ser LB/B rs2278370 - FAT2 Q9NYQ8 VAR_055604 p.Gly1571Ser LB/B rs10044879 - FAT2 Q9NYQ8 VAR_055605 p.Arg1895Trp LB/B rs34464977 - FAT2 Q9NYQ8 VAR_055606 p.Gly2054Ala LB/B rs34493925 - FAT2 Q9NYQ8 VAR_055607 p.Ala2907Thr LB/B rs3734053 - FAT2 Q9NYQ8 VAR_055608 p.Arg3318Gln LB/B rs7718054 - FAT2 Q9NYQ8 VAR_055609 p.Arg3318Trp LB/B rs2304024 - FAT2 Q9NYQ8 VAR_055610 p.Leu3514Ser LB/B rs2053028 - FAT2 Q9NYQ8 VAR_055611 p.Met3631Ile LB/B rs6650971 - FAT2 Q9NYQ8 VAR_055612 p.Ala3664Gly LB/B rs35963695 - FAT2 Q9NYQ8 VAR_055613 p.Gln3953His LB/B rs2304029 - FAT2 Q9NYQ8 VAR_055614 p.Pro4117Leu LB/B rs1105168 - FAT2 Q9NYQ8 VAR_058286 p.Leu1295Pro LB/B rs35640822 - FAT2 Q9NYQ8 VAR_061076 p.Tyr1181His LB/B rs6872614 - FAT2 Q9NYQ8 VAR_061077 p.Phe2428Ser LB/B rs6892335 - FAT2 Q9NYQ8 VAR_080665 p.Lys3586Asn US rs770597316 Spinocerebellar ataxia 45 (SCA45) [MIM:617769] FAT2 Q9NYQ8 VAR_080666 p.Arg3649Gln US rs201335279 Spinocerebellar ataxia 45 (SCA45) [MIM:617769] FAT3 Q8TDW7 VAR_039851 p.Ser412Phe LB/B rs10830902 - FAT3 Q8TDW7 VAR_039852 p.Ile462Val LB/B rs16917409 - FAT3 Q8TDW7 VAR_039853 p.Val1167Gly LB/B rs11821058 - FAT3 Q8TDW7 VAR_039854 p.Gln1726Arg LB/B rs7949157 - FAT3 Q8TDW7 VAR_039855 p.Asn2293Ser LB/B rs16918105 - FAT3 Q8TDW7 VAR_039856 p.Val2622Phe LB/B rs17615477 - FAT3 Q8TDW7 VAR_039857 p.Ile2755Val LB/B rs3847531 - FAT3 Q8TDW7 VAR_039858 p.Val3518Leu LB/B rs10765565 - FAT3 Q8TDW7 VAR_039859 p.Ser3812Gly LB/B rs4753069 - FAT4 Q6V0I7 VAR_039860 p.Asp2826Asn LB/B rs1485569217 - FAT4 Q6V0I7 VAR_039861 p.Gly3524Asp LB/B rs1567047 - FAT4 Q6V0I7 VAR_039862 p.Lys3828Glu LB/B rs17009684 - FAT4 Q6V0I7 VAR_039863 p.Ser3873Asn LB/B rs12650153 - FAT4 Q6V0I7 VAR_039864 p.Glu4374Lys LB/B rs11942361 - FAT4 Q6V0I7 VAR_039865 p.Pro4972Ser LB/B rs1014867 - FAT4 Q6V0I7 VAR_039866 p.Ala4977Thr LB/B rs17009858 - FAT4 Q6V0I7 VAR_048580 p.Gln453Leu LB/B rs6847454 - FAT4 Q6V0I7 VAR_048581 p.Ala807Val LB/B rs1039808 - FAT4 Q6V0I7 VAR_070925 p.Glu2375Lys LP/P rs398122955 Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2) [MIM:616006] FAT4 Q6V0I7 VAR_070925 p.Glu2375Lys LP/P rs398122955 Van Maldergem syndrome 2 (VMLDS2) [MIM:615546] FAT4 Q6V0I7 VAR_070926 p.Cys4159Phe LP/P rs398122953 Van Maldergem syndrome 2 (VMLDS2) [MIM:615546] FAT4 Q6V0I7 VAR_070927 p.Cys4398Tyr LP/P rs398122954 Van Maldergem syndrome 2 (VMLDS2) [MIM:615546] FAT4 Q6V0I7 VAR_071948 p.Phe475Leu LP/P - Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2) [MIM:616006] FAT4 Q6V0I7 VAR_071949 p.Glu486Gln LP/P - Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2) [MIM:616006] FAT4 Q6V0I7 VAR_071950 p.Ser4282Phe LP/P rs199682210 Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2) [MIM:616006] FATE1 Q969F0 VAR_016917 p.Ala10Val LB/B rs3810715 - FATE1 Q969F0 VAR_016918 p.Ile34Thr US - - FATE1 Q969F0 VAR_016919 p.Ser125Arg LB/B rs141497002 - FAU P62861 VAR_019643 p.Val93Met LB/B - - FAU P62861 VAR_019644 p.Thr53Ile LB/B rs13807 - FAXDC2 Q96IV6 VAR_048900 p.Arg133His LB/B rs17641488 - FBF1 Q8TES7 VAR_034659 p.Gly65Val LB/B rs1135889 - FBF1 Q8TES7 VAR_034660 p.Arg151Gly LB/B rs2305913 - FBF1 Q8TES7 VAR_034661 p.Pro371Ser LB/B rs7218738 - FBF1 Q8TES7 VAR_034662 p.Cys574Ser LB/B rs7213548 - FBLIM1 Q8WUP2 VAR_022842 p.Ser191Phe LB/B rs10927851 - FBLIM1 Q8WUP2 VAR_050145 p.Arg39Cys LB/B rs34375304 - FBLN1 P23142 VAR_015650 p.Gln141Arg LB/B rs136730 - FBLN1 P23142 VAR_055720 p.Cys509Ser LB/B rs1802787 - FBLN1 P23142 VAR_055721 p.His695Arg LB/B rs13268 - FBLN1 P23142 VAR_072739 p.Cys397Phe US rs397509432 - FBLN2 P98095 VAR_055722 p.Gly1114Arg LB/B rs1061375 - FBLN2 P98095 VAR_059266 p.Ser361Gly LB/B rs3732666 - FBLN2 P98095 VAR_059267 p.Asn387Thr LB/B rs3796318 - FBLN2 P98095 VAR_059268 p.Thr854Ala LB/B rs9843344 - FBLN2 P98095 VAR_061159 p.Ile45Val LB/B rs60850813 - FBLN2 P98095 VAR_061160 p.His144Arg LB/B rs28587534 - FBLN5 Q9UBX5 VAR_017153 p.Ser227Pro LP/P rs28939370 Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100] FBLN5 Q9UBX5 VAR_019814 p.Val60Leu LP/P rs121434299 Macular degeneration, age-related, 3 (ARMD3) [MIM:608895] FBLN5 Q9UBX5 VAR_019815 p.Arg71Gln LP/P rs121434300 Macular degeneration, age-related, 3 (ARMD3) [MIM:608895] FBLN5 Q9UBX5 VAR_019816 p.Pro87Ser LP/P rs121434301 Macular degeneration, age-related, 3 (ARMD3) [MIM:608895] FBLN5 Q9UBX5 VAR_019817 p.Ile169Thr LP/P rs28939072 Macular degeneration, age-related, 3 (ARMD3) [MIM:608895] FBLN5 Q9UBX5 VAR_019818 p.Arg351Trp LP/P rs28939073 Macular degeneration, age-related, 3 (ARMD3) [MIM:608895] FBLN5 Q9UBX5 VAR_019819 p.Ala363Thr LP/P rs121434302 Macular degeneration, age-related, 3 (ARMD3) [MIM:608895] FBLN5 Q9UBX5 VAR_019820 p.Gly412Glu LP/P rs121434303 Macular degeneration, age-related, 3 (ARMD3) [MIM:608895] FBLN5 Q9UBX5 VAR_026986 p.Asp364Tyr LB/B rs1802492 - FBLN5 Q9UBX5 VAR_072389 p.Gln124Pro LP/P - Macular degeneration, age-related, 3 (ARMD3) [MIM:608895] FBLN5 Q9UBX5 VAR_072390 p.Val126Met LB/B rs61734479 - FBLN5 Q9UBX5 VAR_072391 p.Gly202Arg LB/B rs80338765 - FBLN5 Q9UBX5 VAR_072392 p.Cys217Arg LP/P rs80338766 Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100] FBLN5 Q9UBX5 VAR_072393 p.Gly267Ser LP/P rs149396611 Charcot-Marie-Tooth disease, demyelinating, 1H (CMT1H) [MIM:619764] FBLN5 Q9UBX5 VAR_072393 p.Gly267Ser LP/P rs149396611 Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100] FBLN5 Q9UBX5 VAR_072393 p.Gly267Ser LP/P rs149396611 Macular degeneration, age-related, 3 (ARMD3) [MIM:608895] FBLN5 Q9UBX5 VAR_072394 p.Leu301Met US rs377360782 - FBLN5 Q9UBX5 VAR_076289 p.Thr48Ile LP/P rs141200859 Charcot-Marie-Tooth disease, demyelinating, 1H (CMT1H) [MIM:619764] FBLN5 Q9UBX5 VAR_076290 p.Gly90Ser LP/P rs144288844 Charcot-Marie-Tooth disease, demyelinating, 1H (CMT1H) [MIM:619764] FBLN5 Q9UBX5 VAR_076291 p.Arg373Cys LP/P rs864309526 Charcot-Marie-Tooth disease, demyelinating, 1H (CMT1H) [MIM:619764] FBLN7 Q53RD9 VAR_037689 p.Val119Met LB/B rs35586251 - FBN1 P35555 VAR_002276 p.Cys111Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002277 p.Arg122Cys LP/P rs137854467 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002278 p.Cys129Tyr LP/P rs1566935517 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002279 p.Cys166Phe LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002280 p.Cys166Ser LP/P rs397515818 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002281 p.Trp217Gly LP/P rs193922224 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002282 p.Cys476Gly LP/P rs794728326 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002283 p.Asp490Tyr LP/P rs1555400371 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002284 p.Arg545Cys LP/P rs730880099 Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_002284 p.Arg545Cys LP/P rs730880099 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002285 p.Asn548Ile LP/P rs137854462 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002286 p.Cys587Tyr LP/P rs1555399963 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002287 p.Arg627Cys LP/P rs727503057 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002288 p.Cys661Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002289 p.Ala705Thr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002290 p.Cys711Tyr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002291 p.Asp723Ala LP/P rs137854463 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002292 p.Tyr746Cys LP/P rs1555399372 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002293 p.Cys750Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002294 p.Cys862Arg LP/P rs2043595650 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002295 p.Cys926Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002296 p.Val984Ile LP/P rs747713929 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002297 p.Cys996Arg LP/P rs140592 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002298 p.Gly1013Arg LP/P rs140593 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002299 p.Lys1023Asn LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002300 p.Lys1043Arg LP/P rs137854472 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002301 p.Ile1048Thr LP/P rs1555398673 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002303 p.Cys1053Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002304 p.Cys1055Gly LP/P rs1597564258 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002306 p.Asp1072Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002307 p.Glu1073Lys LP/P rs137854478 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002308 p.Cys1074Arg LP/P rs137854465 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002309 p.Cys1086Trp LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002310 p.Cys1117Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002311 p.Cys1117Tyr LP/P rs137854470 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002312 p.Gly1127Ser LP/P rs137854468 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002313 p.Asn1131Tyr LB/B rs137854473 - FBN1 P35555 VAR_002314 p.Arg1137Pro LP/P rs137854456 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002315 p.Pro1148Ala LB/B rs140598 - FBN1 P35555 VAR_002316 p.Cys1153Tyr LP/P rs140599 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002317 p.Asp1155Asn LP/P rs794728204 Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_002317 p.Asp1155Asn LP/P rs794728204 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002318 p.Arg1170His LP/P rs137854475 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002319 p.Cys1171Trp LP/P rs775417975 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002320 p.Asn1173Lys LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002321 p.Cys1223Tyr LP/P rs137854469 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002322 p.Cys1242Tyr LP/P rs137854471 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002323 p.Cys1249Ser LP/P rs137854458 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002324 p.Asn1382Ser LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002325 p.Asp1404Tyr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002326 p.Cys1513Arg LP/P rs112723282 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002327 p.Cys1589Phe LP/P rs1555397024 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002328 p.Cys1610Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002329 p.Cys1663Arg LP/P rs137854459 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002330 p.Pro1837Ser LP/P rs755430984 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002331 p.Asn1893Lys LP/P rs1597533706 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002332 p.Cys1928Arg LP/P rs2043162224 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002333 p.Cys2099Trp LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002334 p.Cys2111Tyr LP/P rs1131691467 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002335 p.Asp2127Glu LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002336 p.Asn2144Ser LP/P rs137854461 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002337 p.Cys2151Trp LP/P rs794728251 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002338 p.Cys2221Ser LP/P rs137854460 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002339 p.Cys2258Arg LP/P rs1057520617 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002340 p.Arg2282Trp LP/P rs765205164 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002341 p.Cys2307Ser LP/P rs137854457 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002342 p.Glu2447Lys LP/P rs137854464 Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_002342 p.Glu2447Lys LP/P rs137854464 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002343 p.Cys2489Arg LP/P rs1057520728 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002344 p.Cys2511Arg LP/P rs794728272 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002345 p.His2623Pro LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002346 p.Gly2627Arg LP/P rs193922239 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002347 p.Arg2680Cys LP/P rs794728283 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002348 p.Arg2726Trp LB/B rs61746008 - FBN1 P35555 VAR_010776 p.Cys504Phe LP/P rs1156747241 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_010777 p.Cys1129Tyr LP/P rs137854482 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_010778 p.Tyr1261Cys LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_010779 p.Cys1833Ser LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_010780 p.Cys2142Tyr LP/P rs794728335 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_014663 p.Ala27Thr LB/B rs25397 - FBN1 P35555 VAR_017967 p.Arg62Cys LP/P rs25403 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017968 p.Cys89Phe LP/P rs112660651 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017969 p.Arg114Cys LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017970 p.Ser115Cys LP/P - Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_017971 p.Cys154Ser LP/P rs1057521103 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017972 p.Arg240Cys LP/P rs137854480 Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_017972 p.Arg240Cys LP/P rs137854480 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017973 p.Trp366Cys LP/P rs1555400595 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017974 p.Gly560Ser LP/P rs1064794283 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017975 p.Cys570Tyr LP/P rs1555400049 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017976 p.Gly592Asp LP/P rs1555399959 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017977 p.Cys596Tyr LP/P rs2043732180 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017978 p.Cys598Trp LP/P rs1555399954 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017979 p.Cys652Ser LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017980 p.Asp654Asn LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017981 p.Cys661Tyr LP/P rs1060501086 Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_017982 p.Ser681Tyr LP/P rs1555399766 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017983 p.Cys683Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017984 p.Cys685Trp LP/P rs140603 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017985 p.Asp723Val LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017986 p.Cys734Phe LP/P rs794728187 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017987 p.Cys748Tyr LP/P rs1064794282 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017988 p.Cys776Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017989 p.Cys776Tyr LP/P rs1555399273 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017990 p.Cys781Arg LP/P rs397515766 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017991 p.Cys816Ser LP/P rs397515770 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017992 p.Cys890Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017993 p.Cys908Arg LP/P rs1060501021 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017994 p.Glu913Gly LP/P rs1555398995 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017995 p.Cys921Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017996 p.Gly985Arg LP/P rs794728199 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017997 p.Cys1044Tyr LP/P rs730880100 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017998 p.Cys1055Trp LP/P rs1060501040 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017999 p.Cys1055Tyr LP/P rs397515786 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018000 p.Tyr1101Cys LP/P rs1555398625 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018001 p.Val1128Ile US - - FBN1 P35555 VAR_018002 p.Glu1200Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018003 p.Glu1325Gln LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018004 p.Ala1337Pro LP/P rs753648789 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018005 p.Cys1339Tyr LP/P rs397515798 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018006 p.Glu1366Lys LP/P rs763449629 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018007 p.Cys1374Ser LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018008 p.Cys1389Arg LP/P rs193922203 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018010 p.Pro1424Ala LP/P rs201273753 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018011 p.Cys1429Ser LP/P rs1555397546 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018012 p.Arg1530Cys LP/P rs111401431 Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_018012 p.Arg1530Cys LP/P rs111401431 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018013 p.Cys1564Tyr LP/P rs267606800 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018015 p.Cys1770Phe LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018016 p.Arg1790Pro LP/P rs1555396428 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018017 p.Cys1791Tyr LP/P rs886038848 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018018 p.Cys1793Trp LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018019 p.Gly1796Glu LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018020 p.Cys1806Ser LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018021 p.Cys1835Tyr LP/P rs111929350 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018022 p.Ile1909Thr LP/P rs794728333 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018023 p.Arg1915Ser LP/P rs1555395826 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018025 p.Cys1971Tyr LP/P rs111239111 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018026 p.Cys1977Tyr LP/P rs1555395663 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018027 p.Cys1998Tyr LP/P rs1085307531 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018028 p.Thr2101Met LB/B rs200816828 - FBN1 P35555 VAR_018029 p.Cys2111Arg LP/P rs363815 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018030 p.Pro2154Arg LP/P rs756219617 Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_018031 p.Cys2221Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018032 p.Asn2223His LP/P rs1555394919 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018033 p.Ile2269Thr LP/P rs193922228 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018034 p.Arg2335Trp LP/P rs794728262 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018035 p.Cys2339Tyr LP/P rs1555394580 Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_018036 p.Cys2406Tyr LP/P rs1131691479 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018037 p.Cys2442Trp LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018038 p.Tyr2474Cys LP/P rs869025415 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018039 p.Cys2581Phe LP/P rs1555394149 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018040 p.Ile2585Thr LP/P rs727503054 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018041 p.Gly2618Arg US rs141133182 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018042 p.Asn2624Lys LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018043 p.Cys2652Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018044 p.Gly2668Cys LP/P rs1057521100 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018319 p.Gly985Glu LP/P rs137854477 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018320 p.Cys1265Arg LP/P rs137854474 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023859 p.Tyr20Cys LP/P rs201309310 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023860 p.Cys123Tyr LP/P rs397515794 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023861 p.Cys177Arg LP/P rs363853 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023862 p.Cys224Arg LP/P rs1555401676 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023863 p.Arg439Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023865 p.Cys541Tyr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023868 p.Tyr635Cys LP/P rs1555399816 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023869 p.Arg636Ile LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023870 p.Cys781Tyr LP/P rs1555399271 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023871 p.Cys832Tyr LP/P rs397515775 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023872 p.Cys890Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023873 p.Gly1058Asp LP/P rs794728202 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023874 p.Asp1113Val LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023875 p.Cys1153Ser LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023877 p.Tyr1219Cys LP/P rs1555398394 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023878 p.Tyr1261Asp LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023879 p.Cys1278Ser LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023880 p.Cys1284Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023881 p.Cys1333Ser LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023882 p.Cys1402Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023883 p.Pro1424Ser LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023884 p.Gly1475Glu LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023885 p.Gly1475Ser LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023886 p.Cys1564Phe LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023887 p.Met1576Thr LP/P rs776625874 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023888 p.Cys1631Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023889 p.Cys1663Tyr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023890 p.Cys1791Arg LP/P rs1555396427 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023891 p.Cys1806Tyr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023892 p.Cys1876Tyr LP/P rs112728248 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023893 p.Thr1887Ile LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023894 p.Cys1895Arg LP/P rs878853686 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023895 p.Cys1900Tyr LP/P rs794728237 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023896 p.Cys1928Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023897 p.Cys1928Tyr LP/P rs587782947 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023898 p.Cys2038Tyr LP/P rs363804 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023899 p.Cys2085Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023900 p.Ala2160Pro LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023901 p.Cys2221Phe LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023902 p.Cys2251Arg LP/P rs112836174 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023903 p.Ala2385Thr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023904 p.Cys2500Arg LP/P rs363810 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023905 p.Cys2500Tyr LP/P rs794728160 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023906 p.Cys2535Trp LP/P rs113544411 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023907 p.Gly2536Arg LP/P rs397515854 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023908 p.Glu2570Lys LP/P rs886038786 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023909 p.Cys2571Arg LP/P rs2042934926 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023910 p.Cys2592Ser LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023912 p.Cys2605Tyr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023913 p.Glu2610Lys LP/P rs111984349 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023914 p.Tyr2629Cys LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023915 p.Cys2663Ser LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_055723 p.His133Gln LB/B rs363850 - FBN1 P35555 VAR_055724 p.Ile329Thr LB/B rs12324002 - FBN1 P35555 VAR_055725 p.Gly363Ser LB/B rs363855 - FBN1 P35555 VAR_055726 p.Ile1048Val LB/B rs2229324 - FBN1 P35555 VAR_055727 p.Asp1113Gly LB/B rs140597 - FBN1 P35555 VAR_055728 p.Asn1282Ser LB/B rs140647 - FBN1 P35555 VAR_055729 p.Cys1672Phe LB/B rs140627 - FBN1 P35555 VAR_055730 p.Val2018Ile LB/B rs363802 - FBN1 P35555 VAR_055731 p.Cys2053Phe LB/B rs363805 - FBN1 P35555 VAR_055732 p.Tyr2113Phe LB/B rs363816 - FBN1 P35555 VAR_055733 p.Cys2170Phe LB/B rs363821 - FBN1 P35555 VAR_055734 p.Pro2278Ser LB/B rs363835 - FBN1 P35555 VAR_055735 p.Asp2329Glu LB/B rs363831 - FBN1 P35555 VAR_058090 p.Tyr472Cys LB/B rs4775765 - FBN1 P35555 VAR_064046 p.Cys1564Ser LP/P rs267606800 Stiff skin syndrome (SSKS) [MIM:184900] FBN1 P35555 VAR_064047 p.Trp1570Cys LP/P rs267606799 Stiff skin syndrome (SSKS) [MIM:184900] FBN1 P35555 VAR_064048 p.Cys1577Gly LP/P rs267606801 Stiff skin syndrome (SSKS) [MIM:184900] FBN1 P35555 VAR_064049 p.Gly1594Asp LP/P rs267606798 Stiff skin syndrome (SSKS) [MIM:184900] FBN1 P35555 VAR_064503 p.Cys1068Gly LP/P rs1293095681 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065981 p.Cys80Gly LP/P rs111764111 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065982 p.Cys499Tyr LP/P rs587782944 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065983 p.Cys611Arg LP/P rs1555399944 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065984 p.Cys617Gly LP/P rs1060501017 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065985 p.Cys685Tyr LP/P rs1555399761 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065986 p.Cys790Tyr LP/P rs193922188 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065987 p.Cys811Tyr LP/P rs1555399210 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065988 p.Cys853Ser LP/P rs1555399165 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065989 p.Cys926Tyr LP/P rs1555398989 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065990 p.Pro1090Ser LP/P rs1555398633 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065991 p.Gly1185Asp LP/P rs1555398512 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065992 p.Cys1284Tyr LP/P rs1555398173 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065993 p.Cys1350Phe LP/P rs1555397718 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065994 p.Thr1401Ala LP/P rs1420739555 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065995 p.Cys1431Trp LP/P rs112375043 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065996 p.Cys1431Tyr LP/P rs1555397540 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065997 p.Ser1481Gly LB/B rs61730054 - FBN1 P35555 VAR_065998 p.Asp1487Ala LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_065999 p.Asn1489Lys LP/P rs193922205 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_066000 p.Gly1838Cys LP/P rs397515823 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_066001 p.Cys1934Ser LP/P rs1555395767 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_066002 p.Glu1976Gly LP/P rs1555395665 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_066003 p.Cys1984Arg LP/P rs1555395659 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_066004 p.Asp2166Asn LP/P rs794728252 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_066005 p.Ile2185Thr LP/P rs910656654 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_066006 p.Asp2247Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_066007 p.Cys2318Arg LP/P rs111588631 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_066008 p.Cys2442Ser LP/P rs1555394435 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_066010 p.Cys2646Arg LP/P rs1555393863 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_066011 p.Tyr2793His LB/B rs113722038 - FBN1 P35555 VAR_066527 p.Tyr1696Cys LP/P rs387906625 Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185] FBN1 P35555 VAR_066528 p.Tyr1699Cys LP/P rs387906622 Acromicric dysplasia (ACMICD) [MIM:102370] FBN1 P35555 VAR_066528 p.Tyr1699Cys LP/P rs387906622 Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185] FBN1 P35555 VAR_066529 p.Tyr1699Asp LP/P - Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185] FBN1 P35555 VAR_066530 p.Tyr1700Cys LP/P rs387906626 Acromicric dysplasia (ACMICD) [MIM:102370] FBN1 P35555 VAR_066531 p.Cys1706Tyr LP/P - Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185] FBN1 P35555 VAR_066532 p.Met1714Arg LP/P - Acromicric dysplasia (ACMICD) [MIM:102370] FBN1 P35555 VAR_066533 p.Cys1719Trp LP/P - Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185] FBN1 P35555 VAR_066534 p.Ser1722Cys LP/P - Acromicric dysplasia (ACMICD) [MIM:102370] FBN1 P35555 VAR_066535 p.Gly1726Val LP/P rs1064797059 Acromicric dysplasia (ACMICD) [MIM:102370] FBN1 P35555 VAR_066536 p.Ala1728Thr LP/P rs387906624 Acromicric dysplasia (ACMICD) [MIM:102370] FBN1 P35555 VAR_066536 p.Ala1728Thr LP/P rs387906624 Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185] FBN1 P35555 VAR_066537 p.Ala1728Val LP/P rs1131691804 Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185] FBN1 P35555 VAR_066538 p.Cys1733Tyr LP/P - Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185] FBN1 P35555 VAR_066540 p.Ser1750Arg LP/P rs1131692052 Acromicric dysplasia (ACMICD) [MIM:102370] FBN1 P35555 VAR_066541 p.Asp1758Val LP/P - Acromicric dysplasia (ACMICD) [MIM:102370] FBN1 P35555 VAR_066542 p.Gly1762Ser LP/P rs387906623 Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185] FBN1 P35555 VAR_075984 p.Ala39Pro US - - FBN1 P35555 VAR_075985 p.Gly55Glu LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_075986 p.Asn57Asp LP/P rs2044669685 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_075987 p.Tyr63Cys LP/P rs1303389437 Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_075988 p.Cys68Ser LP/P rs113604459 Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_075989 p.Cys100Tyr LP/P rs397515782 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_075990 p.Gly127Asp LB/B rs1566935524 - FBN1 P35555 VAR_075991 p.Cys136Ser LP/P rs1555405041 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_075992 p.Cys160Arg LB/B rs1057518973 - FBN1 P35555 VAR_075993 p.Asn164Ser LB/B rs749490298 - FBN1 P35555 VAR_075994 p.Cys177Ser LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_075995 p.Cys177Tyr LP/P rs113695103 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_075996 p.Gly214Ser LP/P rs794728162 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_075998 p.His219Gln LP/P rs774754863 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076003 p.Cys365Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076004 p.Cys365Trp LP/P - Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_076007 p.Val449Ile LP/P rs139058991 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076008 p.Cys474Trp LP/P rs1555400378 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076009 p.Cys488Arg LP/P rs1555400373 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076010 p.Cys504Arg LB/B rs1555400288 - FBN1 P35555 VAR_076011 p.Cys546Trp LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076013 p.Cys576Tyr LP/P rs1555399974 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076014 p.Cys582Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076015 p.Cys596Arg LP/P - Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_076016 p.Cys623Phe LP/P rs1566914030 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076017 p.Ser634Pro LP/P rs1566914005 Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_076018 p.Cys652Tyr LB/B rs2043696418 - FBN1 P35555 VAR_076020 p.Cys684Tyr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076021 p.Cys699Ser LP/P rs2043684108 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076022 p.Gly721Cys LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076023 p.Cys727Tyr LP/P rs1555399381 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076025 p.Cys816Arg LP/P rs1555399206 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076026 p.Phe828Cys LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076028 p.Gly880Ser LP/P rs794728194 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076029 p.Ala882Val LP/P rs794728195 Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_076029 p.Ala882Val LP/P rs794728195 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076030 p.Gly884Glu LP/P rs1555399149 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076031 p.Cys908Tyr LP/P rs1057523406 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076032 p.Asp910His LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076034 p.Cys937Arg US - - FBN1 P35555 VAR_076035 p.Arg954Cys LB/B rs1555398835 - FBN1 P35555 VAR_076037 p.Arg974Cys LP/P rs397514558 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076038 p.Arg976His LP/P rs140954477 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076041 p.Cys1008Tyr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076042 p.Thr1020Ala LB/B rs111801777 - FBN1 P35555 VAR_076043 p.Asp1028Gly US - - FBN1 P35555 VAR_076044 p.Cys1032Tyr LP/P rs137854481 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076045 p.Gly1042Ser LP/P rs1555398681 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076046 p.Cys1074Tyr LP/P rs1555398645 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076048 p.Asn1088Ile LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076049 p.Cys1117Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076051 p.His1130Pro LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076053 p.Cys1138Tyr LP/P rs397515791 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076055 p.Glu1158Gly LP/P rs1597562926 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076056 p.Cys1182Trp LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076057 p.Asp1199Ala LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076058 p.Cys1223Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076059 p.Cys1249Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076060 p.Cys1265Tyr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076061 p.Cys1307Tyr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076062 p.Cys1320Arg LP/P rs1597558920 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076063 p.Cys1326Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076064 p.Phe1346Leu LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076065 p.Cys1402Tyr LP/P rs1555397646 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076066 p.Asp1406Gly LB/B rs2043386794 - FBN1 P35555 VAR_076067 p.Tyr1427Asp LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076068 p.Cys1485Arg LP/P rs730880101 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076069 p.Asp1528Tyr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076073 p.Cys1622Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076074 p.Cys1633Ser US - - FBN1 P35555 VAR_076075 p.Asp1642Gly LP/P rs1597546984 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076077 p.Cys1672Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076078 p.Cys1672Tyr LP/P rs140627 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076079 p.Cys1674Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076081 p.Cys1720Tyr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076083 p.Cys1777Phe US - - FBN1 P35555 VAR_076085 p.Cys1793Tyr LP/P rs1597540854 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076087 p.Gly1796Val LP/P rs2043240309 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076088 p.Glu1811Lys LP/P rs761857514 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076089 p.Cys1812Arg LP/P rs1597537935 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076090 p.Cys1812Tyr LB/B rs1555396213 - FBN1 P35555 VAR_076091 p.Asn1826Ser LP/P rs2043210015 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076092 p.Ser1830Cys LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076093 p.Cys1835Phe LP/P rs111929350 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076094 p.Cys1847Arg LP/P rs1555396186 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076095 p.Cys1847Trp LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076096 p.Cys1860Tyr LP/P rs1597535300 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076097 p.Cys1865Arg LP/P rs1555395984 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076098 p.Gly1879Asp LP/P rs2043178850 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076099 p.Glu1894Lys LP/P rs1057521101 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076100 p.Asn1907Ser LB/B rs1060501087 - FBN1 P35555 VAR_076101 p.Thr1908Ile LP/P rs1304811982 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076102 p.Gly1919Asp LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076103 p.Asp1930His US - - FBN1 P35555 VAR_076104 p.Cys1934Gly LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076105 p.Cys1977Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076106 p.Cys1977Trp LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076107 p.Gly1987Arg LP/P rs727504642 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076113 p.Cys2084Trp LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076114 p.Cys2084Tyr LP/P rs794728245 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076115 p.Glu2105Lys US - - FBN1 P35555 VAR_076116 p.Ile2118Met LP/P rs112989722 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076117 p.Glu2130Lys LP/P rs794728334 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076118 p.Val2136Asp US - - FBN1 P35555 VAR_076119 p.Asn2144Asp LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076120 p.Thr2145Pro LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076121 p.Cys2153Tyr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076123 p.Gly2195Arg LB/B rs886038976 - FBN1 P35555 VAR_076125 p.Cys2221Arg LP/P rs113543334 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076126 p.Thr2224Pro US - - FBN1 P35555 VAR_076128 p.Cys2232Tyr LP/P rs1060501054 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076129 p.Val2234Met LB/B rs112084407 - FBN1 P35555 VAR_076130 p.Glu2250Gly LP/P - Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_076131 p.Cys2258Tyr LP/P rs886039047 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076132 p.Tyr2272Cys LP/P - Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_076133 p.Met2273Thr LB/B rs754270535 - FBN1 P35555 VAR_076134 p.Cys2274Trp LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076135 p.Pro2284Thr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076136 p.Cys2289Trp US - - FBN1 P35555 VAR_076138 p.Cys2302Tyr LB/B rs2042998789 - FBN1 P35555 VAR_076139 p.Cys2365Tyr LB/B rs397515845 - FBN1 P35555 VAR_076141 p.Cys2448Arg LP/P rs1566892757 Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_076144 p.Cys2470Trp LB/B rs1555394397 - FBN1 P35555 VAR_076145 p.Cys2470Tyr LP/P rs1555394398 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076146 p.Thr2516Ile LB/B rs2042946390 - FBN1 P35555 VAR_076147 p.Thr2520Met LP/P rs763759308 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076148 p.Cys2522Tyr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076149 p.Asn2526Ser LB/B rs794728336 - FBN1 P35555 VAR_076150 p.Cys2541Phe US - - FBN1 P35555 VAR_076152 p.Arg2554Trp LB/B rs369294972 - FBN1 P35555 VAR_076153 p.Gly2555Val LP/P rs1566891654 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076154 p.Thr2561Pro LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076156 p.Cys2577Arg LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076157 p.Cys2577Tyr LP/P - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076159 p.Asn2708Ser LP/P rs759494825 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_076160 p.Ile2741Thr LP/P rs1409931715 Marfanoid-progeroid-lipodystrophy syndrome (MFLS) [MIM:616914] FBN1 P35555 VAR_076163 p.Leu2780Pro LB/B rs869025417 - FBN2 P35556 VAR_002349 p.Val965Ile LB/B rs154001 - FBN2 P35556 VAR_002350 p.Cys1253Tyr LP/P rs137852825 Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_002351 p.Cys1434Ser LP/P rs1750667332 Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_010739 p.Asp1115His LP/P rs137852827 Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_010740 p.Cys1142Phe LP/P rs137852828 Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_010741 p.Cys1253Trp LP/P rs28931602 Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_014664 p.Ser2771Pro LB/B rs1801170 - FBN2 P35556 VAR_015851 p.Glu391Lys LP/P rs137852826 Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_016143 p.Pro2428Thr LB/B rs1801169 - FBN2 P35556 VAR_054979 p.Thr594Ser LB/B - - FBN2 P35556 VAR_054980 p.Arg681His LB/B rs548605398 - FBN2 P35556 VAR_054981 p.Gly1057Asp LP/P - Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_054982 p.Ile1093Thr LP/P - Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_054983 p.Gly1179Cys LP/P - Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_054984 p.Cys1198Tyr LP/P rs863223567 Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_054985 p.Cys1240Arg LP/P - Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_054986 p.Cys1257Trp LP/P - Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_054987 p.Cys1268Arg LP/P - Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_054988 p.Trp1772Gly LB/B - - FBN2 P35556 VAR_054989 p.Phe2266Leu LB/B - - FBN2 P35556 VAR_054990 p.Leu2581Ser LB/B rs2291628 - FBN2 P35556 VAR_055415 p.Thr2278Met LB/B rs2307109 - FBN2 P35556 VAR_055416 p.Met2311Val LB/B rs32209 - FBN2 P35556 VAR_055417 p.Ser2580Leu LB/B rs2291628 - FBN2 P35556 VAR_058364 p.Gly754Ser LP/P rs145259927 Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_058365 p.Asn1091Ser LP/P - Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_058366 p.Ser1122Pro LP/P - Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_058367 p.Cys1142Arg LP/P rs1750918931 Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_058368 p.Tyr1146Cys LP/P rs1750918319 Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_058369 p.Cys1156Phe LP/P rs1206843725 Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_058370 p.Glu1161Lys LP/P rs1554123065 Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_058371 p.Cys1246Phe LP/P - Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_058372 p.Cys1384Phe LP/P - Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_058373 p.Cys1384Tyr LP/P rs794727560 Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_058374 p.Asp1408Asn LP/P - Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_058375 p.Cys1425Arg LP/P - Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_064705 p.Glu2062Val US - - FBN2 P35556 VAR_072651 p.Glu1144Lys LP/P rs200060005 Macular degeneration, early-onset (EOMD) [MIM:616118] FBN2 P35556 VAR_072652 p.Met1247Thr LP/P rs149054177 Macular degeneration, early-onset (EOMD) [MIM:616118] FBN2 P35556 VAR_072653 p.Asn1259Lys LP/P rs267606802 Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_072654 p.His1381Asn LB/B rs78727187 - FBN2 P35556 VAR_072655 p.Thr1416Ala LB/B rs200837433 - FBN2 P35556 VAR_072656 p.Glu1438Lys LB/B rs56168072 - FBN2 P35556 VAR_074052 p.Cys1406Arg LP/P - Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN2 P35556 VAR_076482 p.Cys1257Arg LP/P - Contractural arachnodactyly, congenital (CCA) [MIM:121050] FBN3 Q75N90 VAR_019493 p.Gly119Ala LB/B rs3813773 - FBN3 Q75N90 VAR_019494 p.Arg473Gln LB/B rs35277492 - FBN3 Q75N90 VAR_019495 p.Asp662Asn LB/B rs4804271 - FBN3 Q75N90 VAR_019496 p.Arg935Leu LB/B - - FBN3 Q75N90 VAR_019497 p.Val938Phe LB/B - - FBN3 Q75N90 VAR_019498 p.Arg1083Trp LB/B rs35579498 - FBN3 Q75N90 VAR_019499 p.Ser1293Asn LB/B rs4804063 - FBN3 Q75N90 VAR_019500 p.Val1326Ile LB/B rs12975322 - FBN3 Q75N90 VAR_019501 p.Gly1614Ser LB/B rs33967815 - FBN3 Q75N90 VAR_019502 p.Arg1806Gln LB/B rs3829817 - FBN3 Q75N90 VAR_019503 p.Asn1869Lys LB/B rs12150963 - FBN3 Q75N90 VAR_019504 p.Leu1904Pro LB/B rs12608849 - FBN3 Q75N90 VAR_019505 p.Pro1958His LB/B rs7245429 - FBN3 Q75N90 VAR_019506 p.Glu2610Asp LB/B rs7257948 - FBN3 Q75N90 VAR_055736 p.Pro329Leu LB/B rs7246376 - FBN3 Q75N90 VAR_055737 p.Met371Ile LB/B rs35999680 - FBN3 Q75N90 VAR_055738 p.Val542Ile LB/B rs36124795 - FBN3 Q75N90 VAR_055739 p.Asp868Asn LB/B rs35025963 - FBN3 Q75N90 VAR_055740 p.Gln1209Arg LB/B rs34684510 - FBN3 Q75N90 VAR_055741 p.Ser1293Gly LB/B rs4804063 - FBN3 Q75N90 VAR_055742 p.Asn1431Ile LB/B rs17160194 - FBN3 Q75N90 VAR_055743 p.Glu1850Lys LB/B rs10404519 - FBN3 Q75N90 VAR_055744 p.Leu1904Phe LB/B rs12608849 - FBN3 Q75N90 VAR_055745 p.Thr1939Asn LB/B rs7245558 - FBN3 Q75N90 VAR_055746 p.His1966Asp LB/B rs34167077 - FBN3 Q75N90 VAR_055747 p.Asn2005Thr LB/B rs17202741 - FBN3 Q75N90 VAR_055748 p.Ser2314Asn LB/B rs17160151 - FBN3 Q75N90 VAR_055749 p.Arg2471His LB/B rs3848570 - FBN3 Q75N90 VAR_055750 p.His2540Gln LB/B rs35477781 - FBN3 Q75N90 VAR_055751 p.Val2594Ile LB/B rs35318692 - FBP1 P09467 VAR_002380 p.Gly164Ser LP/P rs121918188 Fructose-1,6-bisphosphatase deficiency (FBP1D) [MIM:229700] FBP1 P09467 VAR_002381 p.Ala177Asp LP/P rs121918189 Fructose-1,6-bisphosphatase deficiency (FBP1D) [MIM:229700] FBP1 P09467 VAR_002382 p.Val325Ala LB/B - - FBP1 P09467 VAR_022212 p.Arg218Lys LB/B rs1769259 - FBP1 P09467 VAR_022213 p.Phe233Ile LB/B rs2297085 - FBP1 P09467 VAR_022214 p.Arg255Leu LB/B rs28369761 - FBP1 P09467 VAR_038812 p.Phe194Ser LP/P rs121918191 Fructose-1,6-bisphosphatase deficiency (FBP1D) [MIM:229700] FBP1 P09467 VAR_038813 p.Pro284Arg LP/P rs121918192 Fructose-1,6-bisphosphatase deficiency (FBP1D) [MIM:229700] FBP1 P09467 VAR_075492 p.Arg158Trp US rs766005419 Fructose-1,6-bisphosphatase deficiency (FBP1D) [MIM:229700] FBP2 O00757 VAR_024448 p.Val86Leu LB/B rs573212 - FBP2 O00757 VAR_087242 p.Val115Met LP/P - Leukodystrophy, childhood-onset, remitting (CORLK) [MIM:619864] FBRSL1 Q9HCM7 VAR_039390 p.Leu367Pro LB/B rs879759065 - FBXL12 Q9NXK8 VAR_064712 p.Leu63His US - - FBXL13 Q8NEE6 VAR_021480 p.Ile74Met LB/B rs7805950 - FBXL13 Q8NEE6 VAR_031426 p.Gly313Ala LB/B rs17135923 - FBXL13 Q8NEE6 VAR_031427 p.Ile535Val LB/B rs17135873 - FBXL13 Q8NEE6 VAR_031428 p.Tyr565Cys LB/B rs17136118 - FBXL13 Q8NEE6 VAR_031429 p.Asp692Gly LB/B rs17852944 - FBXL14 Q8N1E6 VAR_049033 p.Leu220Val LB/B rs35571553 - FBXL16 Q8N461 VAR_028163 p.Leu429Pro LB/B rs17855603 - FBXL17 Q9UF56 VAR_081000 p.Cys627Arg US - - FBXL18 Q96ME1 VAR_055800 p.Asn552Lys LB/B rs33941092 - FBXL2 Q9UKC9 VAR_036071 p.Val226Met US - A colorectal cancer sample FBXL21P Q9UKT6 VAR_049034 p.Phe76Leu LB/B rs7705168 - FBXL21P Q9UKT6 VAR_049035 p.Pro209Leu LB/B rs40986 - FBXL22 Q6P050 VAR_033940 p.Val115Leu LB/B rs8035931 - FBXL3 Q9UKT7 VAR_082210 p.Cys358Arg LP/P rs1566225872 Intellectual developmental disorder with short stature, facial anomalies, and speech defects (IDDSFAS) [MIM:606220] FBXL4 Q9UKA2 VAR_070858 p.Ile205Thr LP/P rs1350566881 Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471] FBXL4 Q9UKA2 VAR_070859 p.Arg482Trp LP/P rs398123061 Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471] FBXL4 Q9UKA2 VAR_070860 p.Ile551Asn LP/P rs1554215979 Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471] FBXL4 Q9UKA2 VAR_070861 p.Asp565Gly LP/P rs398123062 Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471] FBXL4 Q9UKA2 VAR_070862 p.Gly568Ala LP/P rs398123060 Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471] FBXL4 Q9UKA2 VAR_070863 p.Gln597Pro LP/P rs201989042 Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471] FBXL4 Q9UKA2 VAR_076547 p.Leu481Pro LP/P rs772037717 Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471] FBXL6 Q8N531 VAR_085739 p.Gly496Ser LB/B rs114720164 - FBXO10 Q9UK96 VAR_055801 p.His212Asn LB/B rs7044561 - FBXO10 Q9UK96 VAR_070692 p.Arg44His LB/B rs780121584 - FBXO10 Q9UK96 VAR_070693 p.Val762Cys US - - FBXO10 Q9UK96 VAR_070694 p.Arg825Trp LB/B rs573535073 - FBXO11 Q86XK2 VAR_024441 p.Thr126Ser LB/B rs17036993 - FBXO11 Q86XK2 VAR_070073 p.Tyr206Cys LB/B rs1672530798 - FBXO11 Q86XK2 VAR_070074 p.Tyr644Cys US - - FBXO11 Q86XK2 VAR_070075 p.Gly684Glu US - - FBXO11 Q86XK2 VAR_070076 p.Lys715Asn LB/B rs1572764737 - FBXO11 Q86XK2 VAR_070077 p.Lys715Gln US - - FBXO11 Q86XK2 VAR_081341 p.Arg138Ser LP/P rs1553342109 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089] FBXO11 Q86XK2 VAR_081342 p.Gln156Arg LP/P rs1672806975 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089] FBXO11 Q86XK2 VAR_081343 p.Ile538Val LP/P rs1553338592 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089] FBXO11 Q86XK2 VAR_081345 p.Thr623Arg LP/P rs1671196392 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089] FBXO11 Q86XK2 VAR_081347 p.Ser840Pro LP/P rs1553335247 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089] FBXO11 Q86XK2 VAR_081348 p.Val866Met US - - FBXO11 Q86XK2 VAR_081349 p.Ala892Asp LP/P rs1670358755 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089] FBXO11 Q86XK2 VAR_081351 p.Pro905Arg LP/P rs1670356255 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089] FBXO11 Q86XK2 VAR_081352 p.Asp910Gly LP/P rs1670355281 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089] FBXO15 Q8NCQ5 VAR_049040 p.Tyr496His LB/B rs35815390 - FBXO16 Q8IX29 VAR_020409 p.Arg75Gln LB/B rs3735726 - FBXO16 Q8IX29 VAR_024442 p.Met254Ile LB/B rs1390963 - FBXO16 Q8IX29 VAR_049041 p.Thr255Asn LB/B rs7016831 - FBXO2 Q9UK22 VAR_049036 p.Lys118Thr LB/B rs9614 - FBXO21 O94952 VAR_047919 p.Asn180Thr LB/B rs11556202 - FBXO24 O75426 VAR_049042 p.Arg302His LB/B rs7801492 - FBXO25 Q8TCJ0 VAR_049043 p.Asn36Asp LB/B rs17665340 - FBXO25 Q8TCJ0 VAR_061167 p.Arg38His LB/B rs10090550 - FBXO28 Q9NVF7 VAR_064713 p.Pro345His US - - FBXO28 Q9NVF7 VAR_087015 p.Leu64Arg US - Developmental and epileptic encephalopathy 100 (DEE100) [MIM:619777] FBXO28 Q9NVF7 VAR_087016 p.Ala66Pro US - Developmental and epileptic encephalopathy 100 (DEE100) [MIM:619777] FBXO28 Q9NVF7 VAR_087017 p.Arg348Gly LP/P - Developmental and epileptic encephalopathy 100 (DEE100) [MIM:619777] FBXO28 Q9NVF7 VAR_087018 p.Arg348Leu LP/P rs1553292987 Developmental and epileptic encephalopathy 100 (DEE100) [MIM:619777] FBXO3 Q9UK99 VAR_049037 p.Val221Ile LB/B rs1402954 - FBXO30 Q8TB52 VAR_020410 p.His583Gln LB/B rs3811102 - FBXO30 Q8TB52 VAR_024443 p.Val375Met LB/B rs9373475 - FBXO30 Q8TB52 VAR_036072 p.Ser8Cys US - A colorectal cancer sample FBXO30 Q8TB52 VAR_049044 p.Ser382Cys LB/B rs17075385 - FBXO32 Q969P5 VAR_049045 p.Asn56Ser LB/B rs6988591 - FBXO32 Q969P5 VAR_049046 p.Gly89Ala LB/B rs11786471 - FBXO32 Q969P5 VAR_076453 p.Gly243Arg LB/B rs771939133 - FBXO34 Q9NWN3 VAR_021489 p.Ile470Asn LB/B rs1045002 - FBXO34 Q9NWN3 VAR_021490 p.Leu533Pro LB/B rs3742569 - FBXO34 Q9NWN3 VAR_049047 p.Val432Ala LB/B rs35070799 - FBXO34 Q9NWN3 VAR_049048 p.Gly704Val LB/B rs10138395 - FBXO36 Q8NEA4 VAR_045626 p.Leu86Phe LB/B rs1035834 - FBXO38 Q6PIJ6 VAR_028099 p.Ser592Pro LB/B rs10043775 - FBXO38 Q6PIJ6 VAR_049049 p.Ala894Thr LB/B rs11949133 - FBXO38 Q6PIJ6 VAR_070923 p.Cys206Arg LP/P rs398122838 Neuronopathy, distal hereditary motor, autosomal dominant 6 (HMND6) [MIM:615575] FBXO39 Q8N4B4 VAR_024444 p.Pro10Ser LB/B rs4796555 - FBXO39 Q8N4B4 VAR_024445 p.Leu231Phe LB/B rs1509123 - FBXO39 Q8N4B4 VAR_024446 p.Ile363Met LB/B rs7213731 - FBXO39 Q8N4B4 VAR_049050 p.Tyr166Cys LB/B rs16956264 - FBXO39 Q8N4B4 VAR_049051 p.Ser221Thr LB/B rs4143218 - FBXO4 Q9UKT5 VAR_063500 p.Ser8Arg US rs2231917 Esophagus cancer samples FBXO4 Q9UKT5 VAR_063501 p.Ser12Leu US - Esophagus cancer sample FBXO4 Q9UKT5 VAR_063502 p.Pro13Ser US - Esophagus cancer sample FBXO4 Q9UKT5 VAR_063503 p.Leu23Gln US - Esophagus cancer samples FBXO4 Q9UKT5 VAR_063504 p.Pro76Thr US - Esophagus cancer samples FBXO40 Q9UH90 VAR_030005 p.Val87Ala LB/B rs4676684 - FBXO42 Q6P3S6 VAR_024447 p.Pro471Ala LB/B rs12069239 - FBXO43 Q4G163 VAR_061168 p.Pro139Leu LB/B rs2279102 - FBXO43 Q4G163 VAR_061169 p.Pro139Arg LB/B rs2279102 - FBXO43 Q4G163 VAR_086815 p.Glu98Gly US - Spermatogenic failure 64 (SPGF64) [MIM:619696] FBXO43 Q4G163 VAR_086816 p.Gly149Ala US - Spermatogenic failure 64 (SPGF64) [MIM:619696] FBXO43 Q4G163 VAR_086817 p.Ile250Leu US - Spermatogenic failure 64 (SPGF64) [MIM:619696] FBXO43 Q4G163 VAR_086819 p.Glu594Gly US - Spermatogenic failure 64 (SPGF64) [MIM:619696] FBXO43 Q4G163 VAR_086820 p.Gly664Asp US rs954702094 Spermatogenic failure 64 (SPGF64) [MIM:619696] FBXO47 Q5MNV8 VAR_049052 p.Gln209Arg LB/B rs9906595 - FBXO47 Q5MNV8 VAR_080770 p.Arg182Gly US rs759147995 - FBXO48 Q5FWF7 VAR_043466 p.Thr16Ile LB/B rs12614904 - FBXO5 Q9UKT4 VAR_024440 p.Gln107Glu LB/B rs2073260 - FBXO5 Q9UKT4 VAR_049038 p.Leu164Phe LB/B rs7763565 - FBXO6 Q9NRD1 VAR_022158 p.Pro201Thr LB/B rs2294639 - FBXO6 Q9NRD1 VAR_049039 p.Arg60Gln LB/B rs3125818 - FBXO7 Q9Y3I1 VAR_021408 p.Met115Ile LB/B rs11107 - FBXO7 Q9Y3I1 VAR_047938 p.Arg378Gly LP/P rs71799110 Parkinson disease 15 (PARK15) [MIM:260300] FBXO7 Q9Y3I1 VAR_066022 p.Arg481Cys LB/B rs148272407 - FBXO7 Q9Y3I1 VAR_084192 p.Leu34Arg US - Parkinson disease 15 (PARK15) [MIM:260300] FBXO8 Q9NRD0 VAR_036157 p.Leu269Ile US - A breast cancer sample FBXO8 Q9NRD0 VAR_071118 p.Ile51Met LB/B rs17857220 - FBXO8 Q9NRD0 VAR_071119 p.Tyr156His LB/B rs17854000 - FBXW10 Q5XX13 VAR_038341 p.Ile23Asn LB/B rs11544711 - FBXW10 Q5XX13 VAR_038342 p.Ala821Thr LB/B rs1026259 - FBXW10 Q5XX13 VAR_057600 p.Arg372Gly LB/B rs7209610 - FBXW10B O95170 VAR_038340 p.Phe643Leu LB/B rs8078150 - FBXW11 Q9UKB1 VAR_084385 p.Gly242Arg LP/P - Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) [MIM:618914] FBXW11 Q9UKB1 VAR_084386 p.Arg363Trp LP/P - Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) [MIM:618914] FBXW11 Q9UKB1 VAR_084387 p.Ala364Asp LP/P - Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) [MIM:618914] FBXW11 Q9UKB1 VAR_084388 p.Ala365Thr LP/P - Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) [MIM:618914] FBXW11 Q9UKB1 VAR_084389 p.Glu444Lys LP/P - Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) [MIM:618914] FBXW11 Q9UKB1 VAR_084390 p.Arg447Leu LP/P - Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) [MIM:618914] FBXW11 Q9UKB1 VAR_084391 p.Arg447Gln LP/P - Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) [MIM:618914] FBXW12 Q6X9E4 VAR_057601 p.Pro6Leu LB/B rs17080138 - FBXW12 Q6X9E4 VAR_057602 p.Arg166Trp LB/B rs6442117 - FBXW12 Q6X9E4 VAR_057603 p.Val273Asp LB/B rs6784322 - FBXW5 Q969U6 VAR_053393 p.Glu340Lys LB/B rs7850438 - FBXW7 Q969H0 VAR_017812 p.Glu115Lys LB/B rs6816935 - FBXW7 Q969H0 VAR_017813 p.Arg133Gly LB/B rs6842544 - FBXW7 Q969H0 VAR_017814 p.Thr144Arg LB/B rs7660281 - FBXW7 Q969H0 VAR_017815 p.Arg465Cys US rs867384286 An acute lymphoblastic leukemia cell line FBXW7 Q969H0 VAR_017816 p.Arg505Leu US rs1057519896 An ovarian cancer cell line FBXW7 Q969H0 VAR_017817 p.Ser668Gly LB/B rs7679116 - FBXW7 Q969H0 VAR_033030 p.Glu117Lys US rs991177157 A breast cancer sample FBXW7 Q969H0 VAR_035880 p.Arg465His LP/P rs1057519895 Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_035881 p.Ser582Leu US - A colorectal cancer sample FBXW7 Q969H0 VAR_087662 p.Thr416Ala LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087663 p.Thr416Ile LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087664 p.His420Leu LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087665 p.Gly423Arg LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087666 p.Arg441Gly LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087667 p.Ser462Pro LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087668 p.Arg479Gln LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087669 p.Asp480Gly LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087670 p.Arg505His LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087671 p.Val544Gly LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087672 p.His580Tyr LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087673 p.Ser582Ala LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087674 p.Ala599Val LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087675 p.Ile608Val US - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087676 p.Ala626Val LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087677 p.Ser640Arg LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087679 p.Arg674Pro LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087680 p.Arg674Trp LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087681 p.Arg689Gln LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7 Q969H0 VAR_087682 p.Arg689Trp LP/P - Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW8 Q8N3Y1 VAR_057597 p.Thr211Ala LB/B rs36021180 - FBXW8 Q8N3Y1 VAR_057598 p.Thr536Met LB/B rs3741466 - FBXW8 Q8N3Y1 VAR_060326 p.Arg192Gln LB/B rs4076700 - FBXW8 Q8N3Y1 VAR_062096 p.Val563Met LB/B rs56350562 - FBXW9 Q5XUX1 VAR_057599 p.Arg70Lys LB/B rs6511833 - FBXW9 Q5XUX1 VAR_062097 p.Thr219Ala LB/B rs10424623 - FCAR P24071 VAR_049996 p.Asp113Asn LB/B rs11666735 - FCAR P24071 VAR_049997 p.Ser269Gly LB/B rs16986050 - FCER1A P12319 VAR_020091 p.Lys84Arg LB/B rs2298804 - FCER1A P12319 VAR_020092 p.Ser101Asn LB/B rs2298805 - FCER2 P06734 VAR_035387 p.Arg62Trp LB/B rs2228137 - FCER2 P06734 VAR_035388 p.Arg284Gln LB/B rs8102872 - FCER2 P06734 VAR_069800 p.Ser316Phe LB/B - - FCGBP Q9Y6R7 VAR_028903 p.Val1340Leu LB/B rs11083543 - FCGBP Q9Y6R7 VAR_028904 p.Gly1616Val LB/B rs7248839 - FCGBP Q9Y6R7 VAR_028905 p.Met1617Val LB/B rs7249743 - FCGBP Q9Y6R7 VAR_028906 p.Asn2089Asp LB/B rs885723 - FCGBP Q9Y6R7 VAR_028907 p.Glu2646Asp LB/B rs140171218 - FCGBP Q9Y6R7 VAR_028908 p.Glu2647Lys LB/B rs1176978283 - FCGBP Q9Y6R7 VAR_028909 p.Ala2793Val LB/B rs2542316 - FCGBP Q9Y6R7 VAR_028910 p.Val2814Ala LB/B rs3746009 - FCGBP Q9Y6R7 VAR_028911 p.Gly3264Ser LB/B rs1290971390 - FCGBP Q9Y6R7 VAR_028912 p.His3920Gln LB/B rs2542318 - FCGBP Q9Y6R7 VAR_028913 p.Val4015Ala LB/B rs3746009 - FCGBP Q9Y6R7 VAR_028914 p.Gly4095Asp LB/B rs1975181 - FCGBP Q9Y6R7 VAR_028915 p.Gly4465Ser LB/B rs6508919 - FCGBP Q9Y6R7 VAR_028916 p.Asp4906His LB/B rs3746013 - FCGBP Q9Y6R7 VAR_054490 p.Val732Ala LB/B rs34181317 - FCGBP Q9Y6R7 VAR_054491 p.Asn770Ser LB/B rs34939346 - FCGBP Q9Y6R7 VAR_054492 p.Gly929Arg LB/B rs35338934 - FCGBP Q9Y6R7 VAR_054493 p.Val971Met LB/B rs35922811 - FCGBP Q9Y6R7 VAR_054494 p.Gly1019Arg LB/B rs34254649 - FCGBP Q9Y6R7 VAR_054495 p.Pro1436Leu LB/B rs36106401 - FCGBP Q9Y6R7 VAR_054496 p.His1445Asp LB/B rs2909229 - FCGBP Q9Y6R7 VAR_054497 p.Thr1524Asn LB/B rs34938990 - FCGBP Q9Y6R7 VAR_054498 p.Ala5017Val LB/B rs741143 - FCGR1A P12314 VAR_019522 p.Leu105Pro LB/B rs619322 - FCGR2A P12318 VAR_003955 p.His167Arg LB/B rs1801274 - FCGR2A P12318 VAR_054857 p.Gln63Arg LB/B rs9427398 - FCGR2A P12318 VAR_054858 p.Met140Val LB/B rs4986941 - FCGR2A P12318 VAR_054859 p.Ile218Val LB/B rs17851834 - FCGR2B P31994 VAR_008798 p.Tyr258Asp LB/B rs148534844 - FCGR2B P31994 VAR_015515 p.Ile232Thr LB/B rs1050501 - FCGR2B P31994 VAR_027045 p.Tyr205Phe LB/B rs1050499 - FCGR2B P31994 VAR_059430 p.Gln83Pro LB/B rs5017567 - FCGR3A P08637 VAR_003960 p.Phe176Val LB/B rs396991 - FCGR3A P08637 VAR_008799 p.Leu66Arg LB/B rs10127939 - FCGR3A P08637 VAR_008800 p.Leu66His LP/P rs10127939 Immunodeficiency 20 (IMD20) [MIM:615707] FCGR3A P08637 VAR_058398 p.Gly147Asp LB/B rs443082 - FCGR3A P08637 VAR_058399 p.Tyr158His LB/B rs396716 - FCGR3A P08637 VAR_058400 p.Phe203Ser LB/B rs1042206 - FCGR3B O75015 VAR_003956 p.Ser36Arg LB/B rs200688856 - FCGR3B O75015 VAR_003957 p.Asn82Asp LB/B rs147574249 - FCGR3B O75015 VAR_003963 p.Asn65Ser LB/B rs448740 - FCGR3B O75015 VAR_003964 p.Ile106Val LB/B rs2290834 - FCGR3B O75015 VAR_008802 p.Ala78Asp LB/B rs5030738 - FCHO1 O14526 VAR_085363 p.Ala34Pro LP/P - Immunodeficiency 76 (IMD76) [MIM:619164] FCHO1 O14526 VAR_085365 p.Arg679Pro LP/P - Immunodeficiency 76 (IMD76) [MIM:619164] FCHO2 Q0JRZ9 VAR_029636 p.Met371Val LB/B rs185435 - FCHSD1 Q86WN1 VAR_030692 p.Asn344Lys LB/B rs3749760 - FCHSD1 Q86WN1 VAR_030693 p.Pro681Leu LB/B rs32957 - FCN1 O00602 VAR_024450 p.Tyr126His LB/B rs771359747 - FCN1 O00602 VAR_036341 p.Tyr175Cys US - A colorectal cancer sample FCN1 O00602 VAR_061172 p.Arg93Gln LB/B rs56345770 - FCN2 Q15485 VAR_036342 p.Pro80Leu US - A colorectal cancer sample FCN2 Q15485 VAR_049072 p.His113Tyr LB/B rs17549179 - FCN2 Q15485 VAR_049073 p.Gly117Ser LB/B rs12684476 - FCN2 Q15485 VAR_049074 p.Thr236Met LB/B rs17549193 - FCN2 Q15485 VAR_049075 p.Ala258Ser LB/B rs7851696 - FCRL1 Q96LA6 VAR_042923 p.Val124Met LB/B rs12078586 - FCRL2 Q96LA5 VAR_049873 p.Ile202Asn LB/B rs16839100 - FCRL3 Q96P31 VAR_042924 p.Asn28Asp LB/B rs7522061 - FCRL3 Q96P31 VAR_042925 p.Leu307Phe LB/B rs12041673 - FCRL3 Q96P31 VAR_042926 p.His445Asn US - A breast cancer sample FCRL3 Q96P31 VAR_042927 p.Pro660Leu LB/B rs944627 - FCRL3 Q96P31 VAR_042928 p.Asn721Ser LB/B rs2282284 - FCRL4 Q96PJ5 VAR_042929 p.Arg60Gln LB/B rs11582663 - FCRL4 Q96PJ5 VAR_042930 p.Asn255Ser LB/B rs4561035 - FCRL4 Q96PJ5 VAR_042931 p.Lys457Arg LB/B rs2039401 - FCRL4 Q96PJ5 VAR_042932 p.Tyr493Cys LB/B rs3811028 - FCRL5 Q96RD9 VAR_025447 p.Tyr267His LB/B rs6679793 - FCRL5 Q96RD9 VAR_025448 p.Val269Ile LB/B rs12036228 - FCRL5 Q96RD9 VAR_025449 p.Gly418Asp LB/B rs2012199 - FCRL5 Q96RD9 VAR_025450 p.Val466Ile LB/B rs6427384 - FCRL5 Q96RD9 VAR_035514 p.Ser687Cys US - A breast cancer sample FCRL5 Q96RD9 VAR_056044 p.Asn427Lys LB/B rs16838748 - FCRL5 Q96RD9 VAR_056045 p.Gln457Arg LB/B rs34868810 - FCRL6 Q6DN72 VAR_031090 p.Ser427Gly LB/B rs4443889 - FCRLA Q7L513 VAR_025646 p.Arg349Gln LB/B rs11746 - FCSK Q8N0W3 VAR_021327 p.Val146Met LB/B rs17881323 - FCSK Q8N0W3 VAR_021328 p.Ala521Thr LB/B rs17881069 - FCSK Q8N0W3 VAR_021329 p.Arg571His LB/B rs17886171 - FCSK Q8N0W3 VAR_021330 p.Pro701Leu LB/B rs17883716 - FCSK Q8N0W3 VAR_021331 p.Ala858Thr LB/B rs17884050 - FCSK Q8N0W3 VAR_021332 p.Val861Met LB/B rs17878599 - FCSK Q8N0W3 VAR_021333 p.Arg901Trp LB/B rs17881635 - FCSK Q8N0W3 VAR_021334 p.Arg939Gln LB/B rs17886060 - FCSK Q8N0W3 VAR_021335 p.Arg939Trp LB/B rs17883248 - FCSK Q8N0W3 VAR_081646 p.Ser223Pro US rs769009456 Congenital disorder of glycosylation with defective fucosylation 2 (CDGF2) [MIM:618324] FCSK Q8N0W3 VAR_081647 p.Arg683Cys US rs755169246 Congenital disorder of glycosylation with defective fucosylation 2 (CDGF2) [MIM:618324] FCSK Q8N0W3 VAR_081648 p.Lys994Gln US rs199515460 Congenital disorder of glycosylation with defective fucosylation 2 (CDGF2) [MIM:618324] FDFT1 P37268 VAR_011786 p.Lys45Arg LB/B rs4731 - FDFT1 P37268 VAR_011787 p.Leu392Pro LB/B rs1804473 - FDPS P14324 VAR_049644 p.Ile391Val LB/B rs17456 - FDPS P14324 VAR_061274 p.Val364Ala LB/B rs41314549 - FDPS P14324 VAR_075062 p.Arg179Gln LP/P rs863225241 Porokeratosis 9, multiple types (POROK9) [MIM:616631] FDX2 Q6P4F2 VAR_082100 p.Pro141Leu LP/P rs888630930 Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MEOAL) [MIM:251900] FDXACB1 Q9BRP7 VAR_060321 p.Ile87Asn LB/B rs611010 - FDXACB1 Q9BRP7 VAR_060322 p.Thr475Pro LB/B rs3168263 - FDXACB1 Q9BRP7 VAR_062165 p.Thr28Ala LB/B rs59164893 - FDXR P22570 VAR_004624 p.Arg123Gln LB/B rs690514 - FDXR P22570 VAR_025192 p.Arg7Leu LB/B rs28365947 - FDXR P22570 VAR_025193 p.Gly213Val LB/B rs35692345 - FDXR P22570 VAR_025194 p.Pro248Leu LB/B rs35072974 - FDXR P22570 VAR_025195 p.Arg251Trp LB/B rs34038065 - FDXR P22570 VAR_025196 p.Arg301Cys LB/B rs34118765 - FDXR P22570 VAR_025197 p.Thr345Met LB/B rs35660143 - FDXR P22570 VAR_025198 p.Pro352Ser LB/B rs35696549 - FDXR P22570 VAR_025199 p.Thr472Ala LB/B rs35769464 - FDXR P22570 VAR_080376 p.Leu215Val LP/P - Auditory neuropathy and optic atrophy (ANOA) [MIM:617717] FDXR P22570 VAR_080377 p.Arg242Trp LP/P - Auditory neuropathy and optic atrophy (ANOA) [MIM:617717] FDXR P22570 VAR_080378 p.Arg306Cys LP/P - Auditory neuropathy and optic atrophy (ANOA) [MIM:617717] FDXR P22570 VAR_080379 p.Arg327Ser LP/P - Auditory neuropathy and optic atrophy (ANOA) [MIM:617717] FECH P22830 VAR_002383 p.Gly55Cys LP/P rs3848519 Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_002384 p.Ile186Thr LP/P rs1598996367 Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_002385 p.Met267Ile LP/P rs118204037 Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_002386 p.His386Pro LP/P - Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_002387 p.Phe417Ser LP/P rs118204039 Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_012028 p.Arg96Gln LB/B rs1041951 - FECH P22830 VAR_030553 p.Pro62Arg LP/P rs150830931 Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_030554 p.Ile71Lys LP/P - Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_030555 p.Gln139Leu LP/P rs1356965294 Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_030556 p.Ser151Pro LP/P - Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_030557 p.Glu178Lys LP/P rs1160565035 Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_030558 p.Leu182Arg LP/P - Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_030559 p.Tyr191His LP/P rs1055019947 Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_030560 p.Pro192Thr LP/P - Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_030561 p.Cys236Tyr LP/P rs761962617 Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_030562 p.Phe260Leu LP/P - Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_030563 p.Thr283Ile LP/P - Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_030564 p.Met288Lys LP/P - Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_030565 p.Pro334Leu LP/P rs150146721 Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_030566 p.Val362Gly LP/P rs118204040 Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_030567 p.Lys379Asn LP/P - Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_030568 p.Cys406Ser LP/P - Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_030569 p.Cys406Tyr LP/P rs1324421474 Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FECH P22830 VAR_054629 p.Ser264Leu LP/P - Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000] FEM1A Q9BSK4 VAR_039809 p.His500Tyr US - - FEM1C Q96JP0 VAR_039810 p.Asp434Asn US - A breast cancer sample FEM1C Q96JP0 VAR_039811 p.Asp462Asn US rs753336652 A breast cancer sample FEM1C Q96JP0 VAR_087634 p.Asp126His US - - FER P16591 VAR_006282 p.Leu439Val LB/B rs2229086 - FER P16591 VAR_041691 p.Val128Phe LB/B rs35150210 - FER P16591 VAR_041692 p.Glu404Gln US - An ovarian Endometrioid carcinoma sample FER P16591 VAR_041693 p.Met412Val LB/B rs33940843 - FER P16591 VAR_041694 p.Ala443Pro LB/B rs34259824 - FER P16591 VAR_041695 p.Trp460Cys US - A lung small cell carcinoma sample FER P16591 VAR_041696 p.Glu813Gln LB/B rs56097357 - FER P16591 VAR_051695 p.Ile507Thr LB/B rs34204308 - FER1L4 A9Z1Z3 VAR_045893 p.Lys1179Glu LB/B rs1557202 - FER1L4 A9Z1Z3 VAR_045894 p.Asn1183Ser LB/B rs11698021 - FER1L4 A9Z1Z3 VAR_045895 p.Val1318Ile LB/B rs2277862 - FER1L5 A0AVI2 VAR_059285 p.Ile354Thr LB/B rs4907201 - FER1L5 A0AVI2 VAR_059286 p.Thr687Ala LB/B rs7599598 - FER1L6 Q2WGJ9 VAR_039558 p.Asp1110Glu LB/B rs7012186 - FER1L6-AS2 Q96M78 VAR_029819 p.Leu92Ser LB/B rs13258808 - FERD3L Q96RJ6 VAR_042439 p.Gly36Arg US rs775679607 A colorectal cancer sample FERMT1 Q9BQL6 VAR_014398 p.Arg526Lys LB/B rs2232074 - FERMT1 Q9BQL6 VAR_014399 p.Ala534Thr LB/B rs2232078 - FERMT1 Q9BQL6 VAR_048368 p.Ile160Thr LB/B rs16991866 - FERMT1 Q9BQL6 VAR_061035 p.Val241Ala LB/B rs55666319 - FERMT1 Q9BQL6 VAR_066943 p.Ser400Pro LP/P rs869312718 Kindler syndrome (KNDLRS) [MIM:173650] FERMT1 Q9BQL6 VAR_066944 p.Trp559Arg LP/P rs869312719 Kindler syndrome (KNDLRS) [MIM:173650] FERMT3 Q86UX7 VAR_074597 p.Gln599Ser US - Leukocyte adhesion deficiency 3 (LAD3) [MIM:612840] FES P07332 VAR_041697 p.Arg85Cys LB/B rs56041861 - FES P07332 VAR_041698 p.Arg246Gln LB/B rs34573430 - FES P07332 VAR_041699 p.Met323Val LB/B rs56296062 - FETUB Q9UGM5 VAR_024449 p.Gly202Ser LB/B rs6785067 - FETUB Q9UGM5 VAR_049061 p.Ser33Pro LB/B rs34522046 - FETUB Q9UGM5 VAR_049062 p.Lys360Arg LB/B rs7999 - FEZ1 Q99689 VAR_020461 p.Asp123Glu LB/B rs597570 - FEZ2 Q9UHY8 VAR_053771 p.Pro50Leu LB/B rs1544655 - FEZ2 Q9UHY8 VAR_053772 p.Arg329Cys LB/B rs848642 - FEZF1 A0PJY2 VAR_071918 p.His278Tyr LP/P rs587777739 Hypogonadotropic hypogonadism 22 with or without anosmia (HH22) [MIM:616030] FEZF2 Q8TBJ5 VAR_033213 p.Pro164Thr LB/B rs17852031 - FEZF2 Q8TBJ5 VAR_033214 p.Ser250Trp LB/B rs17852032 - FEZF2 Q8TBJ5 VAR_065740 p.Gly188Asp LB/B rs199850439 - FFAR1 O14842 VAR_020076 p.Arg211His LB/B rs2301151 - FFAR2 O15552 VAR_011861 p.Leu211His LB/B rs409093 - FFAR3 O14843 VAR_062854 p.Gln44Arg LB/B rs382771 - FFAR3 O14843 VAR_062855 p.Arg45Cys LB/B rs1359000742 - FFAR3 O14843 VAR_062856 p.Arg174Trp LB/B rs1415955990 - FFAR3 O14843 VAR_062857 p.Leu227Val LB/B rs1395869674 - FFAR3 O14843 VAR_062858 p.Ala256Val LB/B rs1170582382 - FFAR3 O14843 VAR_062962 p.Ser346Asn LB/B rs201080710 - FFAR4 Q5NUL3 VAR_067799 p.Arg67Cys LB/B rs61866610 - FFAR4 Q5NUL3 VAR_067800 p.Arg254His LB/B rs116454156 - FGA P02671 VAR_002390 p.Asp26Asn LB/B rs121909604 - FGA P02671 VAR_002391 p.Gly31Val LB/B rs121909605 - FGA P02671 VAR_002392 p.Arg35Cys LP/P rs121909606 Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] FGA P02671 VAR_002393 p.Arg35His LB/B rs121909607 - FGA P02671 VAR_002394 p.Pro37Leu LB/B rs121909609 - FGA P02671 VAR_002395 p.Arg38Asn US - - FGA P02671 VAR_002396 p.Arg38Ser LB/B rs1403508334 - FGA P02671 VAR_002397 p.Arg38Gly LB/B rs121909608 - FGA P02671 VAR_002398 p.Ser66Thr LB/B - - FGA P02671 VAR_002399 p.Arg160Ser US - - FGA P02671 VAR_002400 p.Ser453Asn LB/B rs121909610 - FGA P02671 VAR_002401 p.Arg573Cys LP/P rs121909613 Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] FGA P02671 VAR_010730 p.Val39Asp LB/B rs121909614 - FGA P02671 VAR_010731 p.Glu545Val LP/P rs121909612 Amyloidosis 8 (AMYL8) [MIM:105200] FGA P02671 VAR_010732 p.Arg573Leu LP/P rs78506343 Amyloidosis 8 (AMYL8) [MIM:105200] FGA P02671 VAR_011609 p.Ile6Val LB/B rs2070025 - FGA P02671 VAR_011610 p.Thr331Ala LB/B rs6050 - FGA P02671 VAR_011611 p.Thr456Ala LB/B rs2070031 - FGA P02671 VAR_014168 p.Lys446Glu LB/B rs6052 - FGA P02671 VAR_072721 p.Cys55Arg LP/P - Congenital afibrinogenemia (CAFBN) [MIM:202400] FGA P02671 VAR_072722 p.Arg129Pro LP/P - Congenital afibrinogenemia (CAFBN) [MIM:202400] FGA P02671 VAR_072723 p.Cys184Trp LP/P - Congenital afibrinogenemia (CAFBN) [MIM:202400] FGB P02675 VAR_002403 p.Arg44Cys LB/B rs121909616 - FGB P02675 VAR_002404 p.Gly45Arg US - - FGB P02675 VAR_002405 p.Arg74Cys LB/B rs121909619 - FGB P02675 VAR_002406 p.Ala98Thr LP/P rs121909620 Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] FGB P02675 VAR_002407 p.Ala365Thr LB/B rs121909617 - FGB P02675 VAR_002408 p.Arg478Lys LB/B rs4220 - FGB P02675 VAR_013091 p.Pro100Ser LB/B rs2227434 - FGB P02675 VAR_013092 p.Asn170His LB/B rs2227409 - FGB P02675 VAR_013093 p.Pro265Leu LB/B rs6054 - FGB P02675 VAR_014169 p.Lys2Glu LB/B rs6053 - FGB P02675 VAR_016908 p.Arg196Cys LP/P rs121909623 Congenital afibrinogenemia (CAFBN) [MIM:202400] FGB P02675 VAR_016909 p.Leu383Arg LP/P rs121909621 Congenital afibrinogenemia (CAFBN) [MIM:202400] FGB P02675 VAR_016910 p.Gly430Asp LP/P rs121909622 Congenital afibrinogenemia (CAFBN) [MIM:202400] FGB P02675 VAR_072620 p.Leu202Gln LP/P rs121909624 Congenital afibrinogenemia (CAFBN) [MIM:202400] FGB P02675 VAR_072724 p.Cys95Arg LP/P - Congenital afibrinogenemia (CAFBN) [MIM:202400] FGB P02675 VAR_072725 p.Thr407Lys LP/P - Congenital afibrinogenemia (CAFBN) [MIM:202400] FGD1 P98174 VAR_015236 p.Arg522His LP/P rs137853264 Aarskog-Scott syndrome (AAS) [MIM:305400] FGD1 P98174 VAR_015237 p.Arg610Gln LP/P rs28935497 Aarskog-Scott syndrome (AAS) [MIM:305400] FGD1 P98174 VAR_019268 p.Ser205Ile LP/P - Aarskog-Scott syndrome (AAS) [MIM:305400] FGD1 P98174 VAR_019269 p.Pro312Leu LB/B rs28935498 - FGD1 P98174 VAR_019270 p.Glu380Ala LP/P - Aarskog-Scott syndrome (AAS) [MIM:305400] FGD1 P98174 VAR_019271 p.Arg443His LP/P rs137853266 Aarskog-Scott syndrome (AAS) [MIM:305400] FGD2 Q7Z6J4 VAR_021491 p.Gln32His LB/B rs831510 - FGD3 Q5JSP0 VAR_021492 p.Val275Ile LB/B rs3802384 - FGD4 Q96M96 VAR_034957 p.Met298Arg LP/P rs63749871 Charcot-Marie-Tooth disease 4H (CMT4H) [MIM:609311] FGD4 Q96M96 VAR_044321 p.Met298Thr LP/P rs63749871 Charcot-Marie-Tooth disease 4H (CMT4H) [MIM:609311] FGD5 Q6ZNL6 VAR_059799 p.Gly403Arg LB/B rs7636593 - FGD5 Q6ZNL6 VAR_059800 p.Ala828Thr LB/B rs17038795 - FGD5 Q6ZNL6 VAR_059801 p.Glu941Lys LB/B rs2307092 - FGD6 Q6ZV73 VAR_024286 p.Gln257Arg LB/B rs10507047 - FGD6 Q6ZV73 VAR_051985 p.Glu1393Lys LB/B rs3794255 - FGF1 P05230 VAR_021357 p.Gly21Glu LB/B rs17223632 - FGF10 O15520 VAR_029888 p.Cys106Phe LP/P rs104893885 Lacrimo-auriculo-dento-digital syndrome 3 (LADD3) [MIM:620193] FGF10 O15520 VAR_029889 p.Ile156Arg LP/P rs104893886 Lacrimo-auriculo-dento-digital syndrome 3 (LADD3) [MIM:620193] FGF11 Q92914 VAR_018886 p.Arg163Gly LB/B - - FGF12 P61328 VAR_076507 p.Arg114His LP/P rs886039903 Developmental and epileptic encephalopathy 47 (DEE47) [MIM:617166] FGF13 Q92913 VAR_020945 p.Lys197Gln LB/B rs17510270 - FGF13 Q92913 VAR_085434 p.Arg11Cys LP/P rs2090039774 Developmental and epileptic encephalopathy 90 (DEE90) [MIM:301058] FGF13 Q92913 VAR_085435 p.Arg11Pro US rs2090039732 Developmental and epileptic encephalopathy 90 (DEE90) [MIM:301058] FGF13 Q92913 VAR_085436 p.Arg14Thr LP/P rs2090039606 Developmental and epileptic encephalopathy 90 (DEE90) [MIM:301058] FGF13 Q92913 VAR_087934 p.Ile5Ser LP/P - Developmental and epileptic encephalopathy 90 (DEE90) [MIM:301058] FGF14 Q92915 VAR_022735 p.Gly42Cys LB/B rs141304687 - FGF14 Q92915 VAR_022736 p.Phe145Ser LP/P rs104894393 Spinocerebellar ataxia 27A (SCA27A) [MIM:193003] FGF16 O43320 VAR_072396 p.Arg68Leu LP/P - Metacarpal 4-5 fusion (MF4) [MIM:309630] FGF17 O60258 VAR_069947 p.Ile108Thr LP/P rs398123024 Hypogonadotropic hypogonadism 20 with or without anosmia (HH20) [MIM:615270] FGF17 O60258 VAR_069948 p.Arg177His LP/P rs398123025 Hypogonadotropic hypogonadism 20 with or without anosmia (HH20) [MIM:615270] FGF17 O60258 VAR_069949 p.Asn187Ser LP/P rs398123026 Hypogonadotropic hypogonadism 20 with or without anosmia (HH20) [MIM:615270] FGF20 Q9NP95 VAR_020946 p.Gly116Arg LB/B rs3793405 - FGF20 Q9NP95 VAR_020947 p.Pro175Ala LB/B rs10089600 - FGF20 Q9NP95 VAR_020948 p.Asp206Asn LB/B rs17550360 - FGF21 Q9NSA1 VAR_049064 p.Leu174Pro LB/B rs739320 - FGF21 Q9NSA1 VAR_055375 p.Gly141Ser LB/B rs41308776 - FGF23 Q9GZV9 VAR_010717 p.Arg176Gln LP/P rs104894347 Hypophosphatemic rickets, autosomal dominant (ADHR) [MIM:193100] FGF23 Q9GZV9 VAR_010718 p.Arg179Trp LP/P rs28937882 Hypophosphatemic rickets, autosomal dominant (ADHR) [MIM:193100] FGF23 Q9GZV9 VAR_010719 p.Arg179Gln LP/P rs193922702 Hypophosphatemic rickets, autosomal dominant (ADHR) [MIM:193100] FGF23 Q9GZV9 VAR_010720 p.Thr239Met LB/B rs7955866 - FGF23 Q9GZV9 VAR_018887 p.Pro195Ser LB/B rs13312793 - FGF23 Q9GZV9 VAR_023831 p.Ser71Gly LP/P rs104894342 Tumoral calcinosis, hyperphosphatemic, familial, 2 (HFTC2) [MIM:617993] FGF23 Q9GZV9 VAR_071711 p.Met96Thr LP/P rs104894343 Tumoral calcinosis, hyperphosphatemic, familial, 2 (HFTC2) [MIM:617993] FGF23 Q9GZV9 VAR_071712 p.Ser129Phe LP/P rs104894344 Tumoral calcinosis, hyperphosphatemic, familial, 2 (HFTC2) [MIM:617993] FGF23 Q9GZV9 VAR_071713 p.Phe157Leu LP/P rs772964687 Tumoral calcinosis, hyperphosphatemic, familial, 2 (HFTC2) [MIM:617993] FGF3 P11487 VAR_031848 p.Ser156Pro LP/P rs121917703 Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706] FGF3 P11487 VAR_060492 p.Leu6Pro LP/P rs121917706 Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706] FGF5 P12034 VAR_025174 p.Met54Val LB/B rs33950145 - FGF5 P12034 VAR_072566 p.Tyr174His LP/P rs587777581 Trichomegaly (TCMGLY) [MIM:190330] FGF6 P10767 VAR_018882 p.Val36Ala LB/B rs11613495 - FGF6 P10767 VAR_018883 p.Ala63Val LB/B rs17183529 - FGF6 P10767 VAR_018884 p.Asp174Val LB/B rs7961645 - FGF6 P10767 VAR_018885 p.Arg191Trp LB/B rs17183778 - FGF7 P21781 VAR_049063 p.Met59Thr LB/B rs34531231 - FGF7 P21781 VAR_071038 p.Gly62Glu LB/B rs17850705 - FGF8 P55075 VAR_057962 p.His14Asn LP/P rs137852659 Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] FGF8 P55075 VAR_057963 p.Pro26Leu LP/P rs137852660 Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] FGF8 P55075 VAR_057964 p.Phe40Leu LP/P rs137852661 Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] FGF8 P55075 VAR_057965 p.Lys89Glu LP/P rs137852662 Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] FGF8 P55075 VAR_057966 p.Arg116Gly LP/P rs137852663 Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] FGF8 P55075 VAR_057967 p.Thr218Met LP/P rs137852664 Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] FGF9 P31371 VAR_020944 p.Ile94Val LB/B rs12427696 - FGF9 P31371 VAR_063254 p.Ser99Asn LP/P rs121918322 Multiple synostoses syndrome 3 (SYNS3) [MIM:612961] FGFBP2 Q9BYJ0 VAR_049065 p.Pro90Ser LB/B rs758329 - FGFBP2 Q9BYJ0 VAR_059287 p.Phe84Leu LB/B rs2286459 - FGFBP2 Q9BYJ0 VAR_061171 p.Ser28Asn LB/B rs35496730 - FGFBP3 Q8TAT2 VAR_026888 p.Glu206Val LB/B rs1107947 - FGFBP3 Q8TAT2 VAR_059288 p.Ala107Thr LB/B rs10881994 - FGFR1 P11362 VAR_004111 p.Pro252Arg LP/P rs121909627 Jackson-Weiss syndrome (JWS) [MIM:123150] FGFR1 P11362 VAR_004111 p.Pro252Arg LP/P rs121909627 Pfeiffer syndrome (PS) [MIM:101600] FGFR1 P11362 VAR_017885 p.Gly97Asp LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_017886 p.Tyr99Cys LP/P rs727505373 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_017887 p.Ala167Ser LP/P rs121909630 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_017888 p.Cys277Tyr LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_017889 p.Val607Met LP/P rs121909629 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_017890 p.Trp666Arg LP/P rs1563433902 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_017891 p.Met719Arg LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_017892 p.Pro772Ser LB/B rs56234888 - FGFR1 P11362 VAR_019290 p.Arg22Ser LB/B rs17175750 - FGFR1 P11362 VAR_019291 p.Gly818Arg LB/B rs17182456 - FGFR1 P11362 VAR_019292 p.Arg822Cys LB/B rs17182463 - FGFR1 P11362 VAR_030968 p.Gly48Ser LP/P rs121909640 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030969 p.Asn77Lys LB/B rs767195580 - FGFR1 P11362 VAR_030970 p.Arg78Cys LP/P rs1554570706 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030971 p.Cys101Phe LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030972 p.Val102Ile LP/P rs55642501 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030973 p.Asp129Ala LP/P rs765615419 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030974 p.Cys178Ser LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030975 p.Trp213Gly LB/B rs17851623 - FGFR1 P11362 VAR_030976 p.Asp224His LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030977 p.Gly237Asp LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030978 p.Gly237Ser LP/P rs121909635 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030979 p.Leu245Pro LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030980 p.Arg250Trp LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030981 p.Arg254Gln LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030982 p.Gly270Asp LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030983 p.Val273Met LP/P rs1131691929 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030984 p.Glu274Gly LP/P rs727505369 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030985 p.Pro283Arg LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030986 p.Ile300Thr LP/P rs121909633 Trigonocephaly 1 (TRIGNO1) [MIM:190440] FGFR1 P11362 VAR_030987 p.Asn330Ile LP/P rs121909632 Osteoglophonic dysplasia (OGD) [MIM:166250] FGFR1 P11362 VAR_030988 p.Ser332Cys LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030989 p.Tyr339Cys LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030990 p.Ala343Val LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030991 p.Ser346Cys LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030992 p.Pro366Leu LP/P rs121909641 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030993 p.Tyr374Cys LP/P rs121909631 Osteoglophonic dysplasia (OGD) [MIM:166250] FGFR1 P11362 VAR_030994 p.Cys381Arg LP/P rs121909634 Osteoglophonic dysplasia (OGD) [MIM:166250] FGFR1 P11362 VAR_030995 p.Ala520Thr LP/P rs749758370 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030996 p.Ile538Val LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030997 p.His621Arg LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030998 p.Arg622Gly LP/P rs121909628 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030999 p.Arg622Gln LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031000 p.Ser685Phe LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031001 p.Gly687Arg LP/P rs727505376 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031002 p.Ile693Phe LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031003 p.Gly703Arg LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031004 p.Gly703Ser LP/P rs768957161 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031005 p.Pro722His LP/P rs267606805 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031006 p.Pro722Ser LP/P rs121909642 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031007 p.Asn724Lys LP/P rs267606806 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031008 p.Pro745Ser LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031009 p.Leu769Val LB/B rs2956723 - FGFR1 P11362 VAR_031010 p.Val795Ile LP/P rs781328162 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_042201 p.Ser125Leu US rs121913473 A breast infiltrating ductal carcinoma sample FGFR1 P11362 VAR_042202 p.Pro252Thr US rs121913472 A lung bronchoalveolar carcinoma sample FGFR1 P11362 VAR_042203 p.Val664Leu US - A lung large cell carcinoma sample FGFR1 P11362 VAR_069288 p.Asn117Ser LP/P rs780765366 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_069289 p.Tyr228Asp LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_069290 p.Ile239Thr LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_069291 p.Arg250Gln LP/P rs121909645 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_069292 p.Arg470Leu LP/P rs121909637 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_069293 p.Lys618Asn LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_069294 p.Ala671Pro LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_069954 p.Leu342Ser LP/P rs121909638 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_069955 p.Gly348Arg LP/P rs886037634 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_069956 p.Pro483Thr LP/P rs397515444 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_069957 p.Glu670Lys LP/P rs397515446 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_069958 p.Glu692Gly LP/P rs397515445 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_069959 p.Asp768Tyr LP/P rs121909644 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_070851 p.Leu165Ser LP/P rs397515481 Hartsfield syndrome (HRTFDS) [MIM:615465] FGFR1 P11362 VAR_070852 p.Leu191Ser LP/P rs869025669 Hartsfield syndrome (HRTFDS) [MIM:615465] FGFR1 P11362 VAR_070853 p.Gly490Arg LP/P rs869025670 Hartsfield syndrome (HRTFDS) [MIM:615465] FGFR1 P11362 VAR_070854 p.Asp623Tyr LP/P rs398122946 Hartsfield syndrome (HRTFDS) [MIM:615465] FGFR1 P11362 VAR_070855 p.Asn628Lys LP/P rs869025672 Hartsfield syndrome (HRTFDS) [MIM:615465] FGFR1 P11362 VAR_070856 p.Cys725Tyr LP/P rs398122945 Hartsfield syndrome (HRTFDS) [MIM:615465] FGFR1 P11362 VAR_071460 p.Arg627Thr LP/P rs869025671 Hartsfield syndrome (HRTFDS) [MIM:615465] FGFR1 P11362 VAR_072993 p.Gly70Arg LP/P rs140254426 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_072994 p.Val116Ile LP/P rs747842199 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_072995 p.Val174Ala LP/P - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_074012 p.Trp4Cys US rs760884357 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_074013 p.Ser96Cys US - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_074014 p.Met719Val US rs1085307879 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_075853 p.Asn546Lys LP/P rs779707422 Encephalocraniocutaneous lipomatosis (ECCL) [MIM:613001] FGFR1 P11362 VAR_075854 p.Val561Met LB/B - - FGFR1 P11362 VAR_075855 p.Lys656Glu LP/P rs869320694 Encephalocraniocutaneous lipomatosis (ECCL) [MIM:613001] FGFR2 P21802 VAR_004112 p.Tyr105Cys LP/P rs1434545235 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004113 p.Ser252Leu LB/B rs79184941 - FGFR2 P21802 VAR_004114 p.Ser252Phe LP/P rs121918498 Apert syndrome (APRS) [MIM:101200] FGFR2 P21802 VAR_004115 p.Ser252Trp LP/P rs79184941 Apert syndrome (APRS) [MIM:101200] FGFR2 P21802 VAR_004115 p.Ser252Trp LP/P rs79184941 Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004117 p.Pro253Arg LP/P rs77543610 Apert syndrome (APRS) [MIM:101200] FGFR2 P21802 VAR_004118 p.Ser267Pro LP/P rs121918505 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004120 p.Phe276Val LP/P rs1057519036 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004121 p.Cys278Phe LP/P rs776587763 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004121 p.Cys278Phe LP/P rs776587763 Jackson-Weiss syndrome (JWS) [MIM:123150] FGFR2 P21802 VAR_004121 p.Cys278Phe LP/P rs776587763 Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004123 p.Gln289Pro LP/P rs121918497 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004123 p.Gln289Pro LP/P rs121918497 Jackson-Weiss syndrome (JWS) [MIM:123150] FGFR2 P21802 VAR_004124 p.Trp290Cys LP/P rs121918499 Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004125 p.Trp290Arg LP/P rs121918501 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004126 p.Lys292Glu LP/P rs121918500 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004127 p.Tyr301Cys LP/P rs1554930684 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004128 p.Ala314Ser LB/B rs1358919643 - FGFR2 P21802 VAR_004129 p.Asp321Ala LP/P rs121918510 Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004130 p.Tyr328Cys LP/P rs121918493 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004131 p.Asn331Ile LP/P - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004133 p.Gly338Glu LP/P rs1057519044 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004134 p.Tyr340His LP/P rs121918489 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004135 p.Thr341Pro LP/P rs121918495 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004135 p.Thr341Pro LP/P rs121918495 Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004136 p.Cys342Phe LP/P rs121918487 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004137 p.Cys342Arg LP/P rs121918488 Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410] FGFR2 P21802 VAR_004137 p.Cys342Arg LP/P rs121918488 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004137 p.Cys342Arg LP/P rs121918488 Jackson-Weiss syndrome (JWS) [MIM:123150] FGFR2 P21802 VAR_004137 p.Cys342Arg LP/P rs121918488 Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004138 p.Cys342Ser LP/P rs121918488 Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410] FGFR2 P21802 VAR_004138 p.Cys342Ser LP/P rs121918488 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004138 p.Cys342Ser LP/P rs121918488 Jackson-Weiss syndrome (JWS) [MIM:123150] FGFR2 P21802 VAR_004138 p.Cys342Ser LP/P rs121918488 Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004139 p.Cys342Tyr LP/P rs121918487 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004139 p.Cys342Tyr LP/P rs121918487 Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004140 p.Ala344Gly LP/P rs121918492 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004140 p.Ala344Gly LP/P rs121918492 Jackson-Weiss syndrome (JWS) [MIM:123150] FGFR2 P21802 VAR_004141 p.Ala344Pro LP/P - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004141 p.Ala344Pro LP/P - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004142 p.Ser347Cys LP/P rs121918494 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004143 p.Ser351Cys LP/P rs121918502 Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410] FGFR2 P21802 VAR_004143 p.Ser351Cys LP/P rs121918502 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004143 p.Ser351Cys LP/P rs121918502 Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004144 p.Ser354Cys LP/P rs121918490 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004146 p.Val359Phe LP/P - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004146 p.Val359Phe LP/P - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004147 p.Gly384Arg LP/P rs1554927408 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_015011 p.Gly338Arg LP/P rs1057519043 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_015012 p.Gly613Arg LB/B - - FGFR2 P21802 VAR_017258 p.Arg6Pro LB/B rs3750819 - FGFR2 P21802 VAR_017259 p.Ala172Phe LP/P - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_017260 p.Met186Thr LB/B rs755793 - FGFR2 P21802 VAR_017261 p.Pro263Leu LP/P rs779326224 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017263 p.Cys278Tyr LP/P rs776587763 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017264 p.Tyr281Cys LP/P rs1057519038 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017265 p.Ile288Ser LP/P - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017266 p.Trp290Gly LP/P rs121918501 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017267 p.Ala315Ser LB/B rs121918504 - FGFR2 P21802 VAR_017268 p.Ala337Pro LP/P rs387906676 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017269 p.Tyr340Cys LP/P rs1554928884 Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_017270 p.Cys342Gly LP/P rs121918488 Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_017271 p.Cys342Trp LP/P rs121918496 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017272 p.Ser354Tyr LP/P - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017273 p.Ala362Ser LP/P - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017274 p.Ser372Cys LP/P rs121913477 Beare-Stevenson cutis gyrata syndrome (BSTVS) [MIM:123790] FGFR2 P21802 VAR_017275 p.Tyr375Cys LP/P rs121913478 Beare-Stevenson cutis gyrata syndrome (BSTVS) [MIM:123790] FGFR2 P21802 VAR_017275 p.Tyr375Cys LP/P rs121913478 Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_017276 p.Asn549His LP/P rs1057519045 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017277 p.Glu565Gly LP/P rs121918506 Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_017278 p.Lys641Arg LP/P rs1057519047 Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_017279 p.Lys659Asn LB/B rs1589722765 - FGFR2 P21802 VAR_017280 p.Gly663Glu LP/P - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_017281 p.Arg678Gly LP/P rs1845559552 Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_023788 p.Lys526Glu LP/P rs121918507 Familial scaphocephaly syndrome (FSPC) [MIM:609579] FGFR2 P21802 VAR_029884 p.Ala628Thr LP/P rs121918509 Lacrimo-auriculo-dento-digital syndrome 1 (LADD1) [MIM:149730] FGFR2 P21802 VAR_029885 p.Ala648Thr LP/P rs121918508 Lacrimo-auriculo-dento-digital syndrome 1 (LADD1) [MIM:149730] FGFR2 P21802 VAR_036380 p.Arg203Cys US - Breast cancer samples FGFR2 P21802 VAR_042204 p.Ser57Leu LB/B rs56226109 - FGFR2 P21802 VAR_042205 p.Gly272Val US - An ovarian serous carcinoma sample FGFR2 P21802 VAR_042206 p.Asp283Asn US - A lung squamous cell carcinoma sample FGFR2 P21802 VAR_046071 p.Arg612Thr US - A lung adenocarcinoma sample FGFR2 P21802 VAR_067977 p.Tyr381Asp LP/P rs387906678 Bent bone dysplasia syndrome 1 (BBDS1) [MIM:614592] FGFR2 P21802 VAR_067978 p.Met391Arg LP/P rs387906677 Bent bone dysplasia syndrome 1 (BBDS1) [MIM:614592] FGFR3 P22607 VAR_004148 p.Arg248Cys LP/P rs121913482 Bladder cancer (BLC) [MIM:109800] FGFR3 P22607 VAR_004148 p.Arg248Cys LP/P rs121913482 Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] FGFR3 P22607 VAR_004148 p.Arg248Cys LP/P rs121913482 Keratosis, seborrheic (KERSEB) [MIM:182000] FGFR3 P22607 VAR_004148 p.Arg248Cys LP/P rs121913482 Thanatophoric dysplasia 1 (TD1) [MIM:187600] FGFR3 P22607 VAR_004149 p.Ser249Cys LP/P rs121913483 Bladder cancer (BLC) [MIM:109800] FGFR3 P22607 VAR_004149 p.Ser249Cys LP/P rs121913483 Cervical cancer (CERCA) [MIM:603956] FGFR3 P22607 VAR_004149 p.Ser249Cys LP/P rs121913483 Keratosis, seborrheic (KERSEB) [MIM:182000] FGFR3 P22607 VAR_004149 p.Ser249Cys LP/P rs121913483 Thanatophoric dysplasia 1 (TD1) [MIM:187600] FGFR3 P22607 VAR_004150 p.Pro250Arg LP/P rs4647924 Muenke syndrome (MNKS) [MIM:602849] FGFR3 P22607 VAR_004151 p.Gly370Cys LP/P rs121913479 Bladder cancer (BLC) [MIM:109800] FGFR3 P22607 VAR_004151 p.Gly370Cys LP/P rs121913479 Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] FGFR3 P22607 VAR_004151 p.Gly370Cys LP/P rs121913479 Keratosis, seborrheic (KERSEB) [MIM:182000] FGFR3 P22607 VAR_004151 p.Gly370Cys LP/P rs121913479 Thanatophoric dysplasia 1 (TD1) [MIM:187600] FGFR3 P22607 VAR_004152 p.Ser371Cys LP/P rs121913484 Keratosis, seborrheic (KERSEB) [MIM:182000] FGFR3 P22607 VAR_004152 p.Ser371Cys LP/P rs121913484 Thanatophoric dysplasia 1 (TD1) [MIM:187600] FGFR3 P22607 VAR_004153 p.Tyr373Cys LP/P rs121913485 Keratosis, seborrheic (KERSEB) [MIM:182000] FGFR3 P22607 VAR_004153 p.Tyr373Cys LP/P rs121913485 Thanatophoric dysplasia 1 (TD1) [MIM:187600] FGFR3 P22607 VAR_004154 p.Gly375Cys LP/P rs75790268 Achondroplasia (ACH) [MIM:100800] FGFR3 P22607 VAR_004155 p.Gly380Arg LP/P rs28931614 Achondroplasia (ACH) [MIM:100800] FGFR3 P22607 VAR_004155 p.Gly380Arg LP/P rs28931614 Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] FGFR3 P22607 VAR_004156 p.Ala391Glu LP/P rs28931615 Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247] FGFR3 P22607 VAR_004157 p.Ile538Val LP/P rs80053154 Hypochondroplasia (HCH) [MIM:146000] FGFR3 P22607 VAR_004158 p.Asn540Lys LP/P rs28933068 Hypochondroplasia (HCH) [MIM:146000] FGFR3 P22607 VAR_004159 p.Asn540Thr LP/P rs77722678 Hypochondroplasia (HCH) [MIM:146000] FGFR3 P22607 VAR_004160 p.Lys650Glu LP/P rs78311289 Bladder cancer (BLC) [MIM:109800] FGFR3 P22607 VAR_004160 p.Lys650Glu LP/P rs78311289 Keratosis, seborrheic (KERSEB) [MIM:182000] FGFR3 P22607 VAR_004160 p.Lys650Glu LP/P rs78311289 Testicular germ cell tumor (TGCT) [MIM:273300] FGFR3 P22607 VAR_004160 p.Lys650Glu LP/P rs78311289 Thanatophoric dysplasia 2 (TD2) [MIM:187601] FGFR3 P22607 VAR_004161 p.Lys650Met LP/P rs121913105 Achondroplasia (ACH) [MIM:100800] FGFR3 P22607 VAR_004161 p.Lys650Met LP/P rs121913105 Achondroplasia, severe, with developmental delay and acanthosis nigricans (SADDAN) [MIM:616482] FGFR3 P22607 VAR_004161 p.Lys650Met LP/P rs121913105 Keratosis, seborrheic (KERSEB) [MIM:182000] FGFR3 P22607 VAR_004161 p.Lys650Met LP/P rs121913105 Thanatophoric dysplasia 1 (TD1) [MIM:187600] FGFR3 P22607 VAR_018388 p.Glu322Lys US rs121913111 Colorectal cancer FGFR3 P22607 VAR_018389 p.Asn540Ser LP/P rs77722678 Hypochondroplasia (HCH) [MIM:146000] FGFR3 P22607 VAR_018390 p.Lys650Gln LP/P rs78311289 Bladder cancer (BLC) [MIM:109800] FGFR3 P22607 VAR_018390 p.Lys650Gln LP/P rs78311289 Hypochondroplasia (HCH) [MIM:146000] FGFR3 P22607 VAR_022167 p.Gly65Arg LB/B rs2305178 - FGFR3 P22607 VAR_022168 p.Phe384Leu LB/B rs17881656 - FGFR3 P22607 VAR_022169 p.Ala441Thr LB/B rs17884368 - FGFR3 P22607 VAR_022170 p.Ala717Thr LB/B rs17882190 - FGFR3 P22607 VAR_022171 p.Ile726Phe LB/B rs17880763 - FGFR3 P22607 VAR_029108 p.Arg621His LP/P rs121913113 Camptodactyly, tall stature, and hearing loss syndrome (CATSHLS) [MIM:610474] FGFR3 P22607 VAR_029887 p.Asp513Asn US rs121913112 Lacrimo-auriculo-dento-digital syndrome 2 (LADD2) [MIM:620192] FGFR3 P22607 VAR_042207 p.Thr79Ser US - A lung adenocarcinoma sample FGFR3 P22607 VAR_042208 p.Cys228Arg US - A colorectal adenocarcinoma sample FGFR3 P22607 VAR_042209 p.Thr338Met LB/B - - FGFR3 P22607 VAR_042210 p.Asp646Asn LB/B - - FGFR4 P22455 VAR_014797 p.Gly388Arg US rs351855 Cancer cells FGFR4 P22455 VAR_014797 p.Gly388Arg US rs351855 May be associated with accelerated disease progression and increased tumor cell motility FGFR4 P22455 VAR_029185 p.Val10Ile LB/B rs1966265 - FGFR4 P22455 VAR_042211 p.Pro136Leu LB/B rs376618 - FGFR4 P22455 VAR_042212 p.Thr179Ala LB/B rs55675160 - FGFR4 P22455 VAR_042213 p.Asp516Asn LB/B rs34158682 - FGFR4 P22455 VAR_046102 p.Gly426Ser LB/B rs55879131 - FGFR4 P22455 VAR_046103 p.Val550Met LB/B rs774571806 - FGFR4 P22455 VAR_046104 p.Pro712Thr US - A lung adenocarcinoma sample FGFR4 P22455 VAR_046105 p.Ser772Asn US - A lung neuroendocrine carcinoma sample FGFR4 P22455 VAR_049720 p.Arg529Gln LB/B rs34284947 - FGFRL1 Q8N441 VAR_022642 p.Pro362Gln LB/B rs4647930 - FGFRL1 Q8N441 VAR_024316 p.Pro464Leu LB/B rs4647932 - FGG P02679 VAR_002409 p.Arg301Cys LB/B rs121913087 - FGG P02679 VAR_002410 p.Arg301His LP/P rs121913088 Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] FGG P02679 VAR_002411 p.Gly318Val LP/P rs121913089 Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] FGG P02679 VAR_002412 p.Asn334Lys US - - FGG P02679 VAR_002413 p.Asn334Ile LB/B rs121913090 - FGG P02679 VAR_002414 p.Met336Thr LB/B rs121913091 - FGG P02679 VAR_002416 p.Gln355Arg LB/B rs121913092 - FGG P02679 VAR_002417 p.Asp356Tyr LB/B rs121913093 - FGG P02679 VAR_002418 p.Asp356Val LP/P rs121913094 Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] FGG P02679 VAR_002419 p.Asn363Lys US - - FGG P02679 VAR_002421 p.Ser384Cys US - - FGG P02679 VAR_002422 p.Arg401Gly LB/B rs75848804 - FGG P02679 VAR_014170 p.Gly191Arg LB/B rs6063 - FGG P02679 VAR_014171 p.Met410Val LB/B rs6061 - FGG P02679 VAR_015853 p.Gly335Asp US - - FGG P02679 VAR_033930 p.Tyr140His LB/B rs2066870 - FGG P02679 VAR_049066 p.Glu77Gly LB/B rs11551835 - FGG P02679 VAR_072621 p.Ser404Pro LP/P rs587777720 Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] FGG P02679 VAR_072726 p.Thr303Pro LP/P - Congenital afibrinogenemia (CAFBN) [MIM:202400] FGG P02679 VAR_072727 p.Asp327His LP/P - Congenital afibrinogenemia (CAFBN) [MIM:202400] FGG P02679 VAR_072728 p.Asn345Asp LP/P - Congenital afibrinogenemia (CAFBN) [MIM:202400] FGG P02679 VAR_072729 p.Arg401Trp LP/P rs75848804 Congenital afibrinogenemia (CAFBN) [MIM:202400] FGGY Q96C11 VAR_040072 p.Leu134Val LB/B rs11207463 - FGGY Q96C11 VAR_059193 p.Asn43Lys LB/B rs835409 - FGGY Q96C11 VAR_059194 p.Leu246Val LB/B rs11207463 - FGL1 Q08830 VAR_024002 p.Thr15Ile LB/B rs484373 - FGL1 Q08830 VAR_024003 p.Ile72Val LB/B rs3739406 - FGL1 Q08830 VAR_024004 p.Pro105Leu LB/B rs2653406 - FGL1 Q08830 VAR_024005 p.Tyr111His LB/B rs34019703 - FGL1 Q08830 VAR_024006 p.Thr121Ser LB/B rs34239530 - FGL1 Q08830 VAR_024007 p.Tyr140Phe LB/B rs35431851 - FGL1 Q08830 VAR_049067 p.Met114Val LB/B rs35311020 - FGL1 Q08830 VAR_049068 p.Trp256Leu LB/B rs2653414 - FGL2 Q14314 VAR_013066 p.Gly53Glu LB/B rs2075761 - FGR P09769 VAR_041700 p.Thr110Ile LB/B rs34597831 - FGR P09769 VAR_041701 p.Ser130Arg LB/B rs35334091 - FH P07954 VAR_002445 p.Lys230Arg LP/P rs752232718 Fumarase deficiency (FMRD) [MIM:606812] FH P07954 VAR_002445 p.Lys230Arg LP/P rs752232718 Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FH P07954 VAR_002446 p.Ala308Thr LP/P rs121913118 Fumarase deficiency (FMRD) [MIM:606812] FH P07954 VAR_002447 p.Phe312Cys LP/P rs1553341046 Fumarase deficiency (FMRD) [MIM:606812] FH P07954 VAR_002448 p.Asp425Val LP/P - Fumarase deficiency (FMRD) [MIM:606812] FH P07954 VAR_013497 p.Asn107Thr LP/P rs121913121 Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FH P07954 VAR_013498 p.Ala117Pro LP/P rs886039363 Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FH P07954 VAR_013499 p.His180Arg LP/P rs863224015 Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FH P07954 VAR_013500 p.Gln185Arg LP/P rs779707997 Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FH P07954 VAR_013501 p.Arg233His LP/P rs121913123 Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FH P07954 VAR_013502 p.Gly282Val LP/P rs935002190 Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FH P07954 VAR_013503 p.Met328Arg LP/P - Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FH P07954 VAR_081606 p.Glu362Gln LP/P rs121913119 Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FHAD1 B1AJZ9 VAR_046372 p.Glu763Lys LB/B rs12126178 - FHDC1 Q9C0D6 VAR_050990 p.Arg639Cys LB/B rs3811833 - FHDC1 Q9C0D6 VAR_069394 p.Leu297Phe LB/B - - FHIP1A Q05DH4 VAR_084431 p.Arg943Cys US - - FHIP1B Q8N612 VAR_028739 p.Thr491Met LB/B rs3750944 - FHIP1B Q8N612 VAR_028740 p.Arg619Leu LB/B rs3750943 - FHIP1B Q8N612 VAR_028741 p.Gln754His LB/B rs11040808 - FHIP1B Q8N612 VAR_057805 p.Arg462Trp LB/B rs35932378 - FHIP2A Q5W0V3 VAR_031793 p.Leu408Ile LB/B rs17853717 - FHIP2A Q5W0V3 VAR_031794 p.Phe631Leu LB/B rs3180654 - FHIP2B Q86V87 VAR_054008 p.Thr315Ala LB/B rs35497596 - FHIP2B Q86V87 VAR_054009 p.Gly667Arg LB/B rs7822461 - FHL1 Q13642 VAR_042603 p.Trp122Ser LP/P rs122458140 Scapuloperoneal myopathy, X-linked dominant (SPM) [MIM:300695] FHL1 Q13642 VAR_042605 p.Cys224Trp LP/P rs122458141 Myopathy, X-linked, with postural muscle atrophy (XMPMA) [MIM:300696] FHL1 Q13642 VAR_045999 p.His123Tyr LP/P rs122458142 Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717] FHL1 Q13642 VAR_046000 p.Cys132Phe LP/P rs122458143 Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717] FHL1 Q13642 VAR_046001 p.Cys153Arg LP/P rs122458144 Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) [MIM:300718] FHL1 Q13642 VAR_046002 p.Cys153Tyr LP/P rs122458145 Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) [MIM:300718] FHL1 Q13642 VAR_075350 p.Cys101Phe US - Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717] FHL1 Q13642 VAR_075352 p.Cys104Arg US rs122459147 Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) [MIM:300718] FHL1 Q13642 VAR_075353 p.His123Leu LP/P rs267606812 Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717] FHL1 Q13642 VAR_075354 p.His123Gln LP/P rs267606813 Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717] FHL1 Q13642 VAR_075355 p.Cys150Ser LP/P - Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) [MIM:300718] FHL1 Q13642 VAR_075356 p.Cys150Tyr US rs122459146 Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717] FHL1 Q13642 VAR_075357 p.Cys209Arg LP/P rs122459149 Emery-Dreifuss muscular dystrophy 6, X-linked (EDMD6) [MIM:300696] FHL1 Q13642 VAR_075358 p.Cys276Tyr LP/P - Emery-Dreifuss muscular dystrophy 6, X-linked (EDMD6) [MIM:300696] FHL1 Q13642 VAR_075359 p.Val280Met LP/P rs267606811 Myopathy, X-linked, with postural muscle atrophy (XMPMA) [MIM:300696] FHL1 Q13642 VAR_076566 p.His154Pro LP/P - Scapuloperoneal myopathy, X-linked dominant (SPM) [MIM:300695] FHL2 Q14192 VAR_067455 p.Lys167Met LB/B - - FHL5 Q5TD97 VAR_022824 p.Val211Met LB/B rs2252816 - FHL5 Q5TD97 VAR_056160 p.Arg35His LB/B rs35157931 - FHL5 Q5TD97 VAR_056161 p.Arg204Gly LB/B rs2273621 - FHL5 Q5TD97 VAR_056162 p.Ser243Arg LB/B rs9373985 - FHOD3 Q2V2M9 VAR_055804 p.Arg475Trp LB/B rs9964535 - FHOD3 Q2V2M9 VAR_085890 p.Ala321Val US rs752857554 Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085891 p.Gly351Arg US rs760471234 Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085892 p.Arg363Cys US - Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085893 p.Lys371Arg US - Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085894 p.Gln383His US - Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085895 p.Val419Glu US - Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085896 p.Pro440Leu US - Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085897 p.Arg459Gly US - Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085898 p.Arg462Gly US - Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085899 p.Arg462Pro US - Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085900 p.Arg462Trp US rs758818742 Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085901 p.Arg466Ser US rs370344363 Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085902 p.Arg469Ser US rs774149210 Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085903 p.Asn479Lys US rs368544178 Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085904 p.Glu640Lys US rs1451852171 Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085905 p.Gly653Cys US - Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085906 p.Ala657Thr US rs757717851 Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085907 p.Asp770Asn US - Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085908 p.Pro865Leu US - Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085909 p.Ala871Thr US - Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085910 p.Arg1194Gln US - Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085911 p.Asn1356His US - Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FHOD3 Q2V2M9 VAR_085912 p.Val1376Gly US - Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402] FIBP O43427 VAR_050991 p.Arg152Trp LB/B rs11559154 - FIBP O43427 VAR_050992 p.Met351Val LB/B rs2231893 - FIBP O43427 VAR_060711 p.Leu359Arg LB/B rs36080962 - FIG4 Q92562 VAR_020378 p.Met364Leu LB/B rs2295837 - FIG4 Q92562 VAR_022826 p.Val654Ala LB/B rs9885672 - FIG4 Q92562 VAR_036974 p.Ile41Thr LP/P rs121908287 Charcot-Marie-Tooth disease 4J (CMT4J) [MIM:611228] FIG4 Q92562 VAR_054831 p.Asp48Gly LB/B rs1296748657 - FIG4 Q92562 VAR_054832 p.Asp53Tyr LP/P rs121908290 Amyotrophic lateral sclerosis 11 (ALS11) [MIM:612577] FIG4 Q92562 VAR_054833 p.Arg388Gly LB/B rs1562667776 - FIG4 Q92562 VAR_054834 p.Ile411Val LB/B rs959747660 - FIG4 Q92562 VAR_054835 p.Tyr647Cys LB/B rs150301327 - FIG4 Q92562 VAR_054836 p.Ile902Thr LB/B rs1162967341 - FIG4 Q92562 VAR_070051 p.Gly104Asp LP/P rs397509395 Yunis-Varon syndrome (YVS) [MIM:216340] FIG4 Q92562 VAR_070052 p.Leu175Pro LP/P rs397514707 Yunis-Varon syndrome (YVS) [MIM:216340] FIG4 Q92562 VAR_071957 p.Leu17Pro LP/P rs587777713 Charcot-Marie-Tooth disease 4J (CMT4J) [MIM:611228] FIG4 Q92562 VAR_071958 p.Glu302Lys LP/P rs587777714 Charcot-Marie-Tooth disease 4J (CMT4J) [MIM:611228] FIG4 Q92562 VAR_071959 p.Asp783Val LP/P rs587777716 Polymicrogyria, bilateral temporooccipital (BTOP) [MIM:612691] FIGLA Q6QHK4 VAR_046776 p.Ala4Glu LB/B rs71647803 - FIGLA Q6QHK4 VAR_046778 p.Ser141Thr LB/B rs7566476 - FIGN Q5HY92 VAR_027613 p.Ser96Leu LB/B rs2231902 - FIGN Q5HY92 VAR_027614 p.Arg448Cys LB/B rs2231904 - FIGN Q5HY92 VAR_027615 p.Lys565Arg LB/B rs2231905 - FIGNL1 Q6PIW4 VAR_034941 p.Val137Met LB/B rs10235371 - FIGNL1 Q6PIW4 VAR_034942 p.His216Tyr LB/B rs35929700 - FIGNL2 A6NMB9 VAR_044425 p.Thr366Pro LB/B rs303819 - FILIP1 Q7Z7B0 VAR_050995 p.Pro1003Ser LB/B rs34807169 - FILIP1L Q4L180 VAR_050993 p.Arg168His LB/B rs793440 - FILIP1L Q4L180 VAR_050994 p.Ala884Pro LB/B rs28362487 - FIRRM Q9NSG2 VAR_030906 p.Ala481Ser LB/B rs2272920 - FITM2 Q8N6M3 VAR_083499 p.Gly232Arg LP/P rs765281145 Siddiqi syndrome (SIDDIS) [MIM:618635] FIZ1 Q96SL8 VAR_060269 p.Thr391Ala LB/B rs7247236 - FJX1 Q86VR8 VAR_043117 p.Met153Leu LB/B rs12792700 - FJX1 Q86VR8 VAR_062233 p.Arg415His LB/B rs12286850 - FKBP10 Q96AY3 VAR_050625 p.Lys197Arg LB/B rs34764749 - FKBP10 Q96AY3 VAR_069902 p.Glu113Lys LP/P rs397514674 Bruck syndrome 1 (BRKS1) [MIM:259450] FKBP10 Q96AY3 VAR_069903 p.Arg115Gln LP/P rs387906960 Bruck syndrome 1 (BRKS1) [MIM:259450] FKBP10 Q96AY3 VAR_069904 p.Pro136Leu LP/P rs782653042 Bruck syndrome 1 (BRKS1) [MIM:259450] FKBP15 Q5T1M5 VAR_034851 p.Ala106Thr LB/B rs1133618 - FKBP15 Q5T1M5 VAR_034852 p.His413Gln LB/B rs10435864 - FKBP15 Q5T1M5 VAR_034853 p.Leu434Phe LB/B rs10465129 - FKBP15 Q5T1M5 VAR_061543 p.Ala847Ser LB/B rs1128116 - FKBP15 Q5T1M5 VAR_061544 p.Pro993Thr LB/B rs57348436 - FKBP2 P26885 VAR_006411 p.Ala25Thr LB/B - - FKBP2 P26885 VAR_006412 p.Cys97Tyr LB/B - - FKBP2 P26885 VAR_050623 p.Arg7Gln LB/B rs4672 - FKBP4 Q02790 VAR_050624 p.Thr436Pro LB/B rs1042228 - FKBP6 O75344 VAR_070840 p.Arg183Cys LB/B rs147213094 - FKBP8 Q14318 VAR_044225 p.Ala87Val LB/B rs11574806 - FKBP9P1 Q75LS8 VAR_036962 p.Val125Gly LB/B rs11524166 - FKBPL Q9UIM3 VAR_061546 p.Ala90Thr LB/B rs28732176 - FKRP Q9H9S5 VAR_018280 p.Ala114Gly US rs143793528 Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018282 p.Arg143Ser LP/P rs148206382 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_018283 p.Pro217Thr LP/P - Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018284 p.Ser221Arg LP/P rs28937902 Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018285 p.Leu276Ile LP/P rs28937900 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_018286 p.Tyr309Cys LP/P rs104894679 Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018287 p.Arg312Cys LP/P - Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_018288 p.Pro315Thr LP/P - Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018289 p.Pro316Arg LP/P rs752582904 Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018289 p.Pro316Arg LP/P rs752582904 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_018290 p.Tyr328Ser LP/P - Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018291 p.Arg339Leu LP/P rs1450841129 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_018292 p.Arg339His LP/P - Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018293 p.Asp401Asn LP/P rs1555739117 Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018294 p.Pro448Leu LP/P rs104894681 Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018295 p.Tyr465Ser LP/P rs1057520772 Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_019272 p.Arg54Trp LP/P rs28937905 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_022850 p.Tyr307Asn LP/P rs104894692 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5) [MIM:613153] FKRP Q9H9S5 VAR_022850 p.Tyr307Asn LP/P rs104894692 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_022851 p.Pro316Ser LP/P rs28937901 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_022852 p.Cys318Tyr LP/P rs104894684 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5) [MIM:613153] FKRP Q9H9S5 VAR_022853 p.Asp360Asn LP/P rs770195088 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_022854 p.Val405Leu LP/P rs28937904 Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_022855 p.Ala455Asp LP/P rs28937903 Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_022856 p.Pro462Ser LP/P rs768606230 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065055 p.Val79Met LP/P rs104894683 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065056 p.Arg134Trp LP/P rs104894690 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065057 p.Val160Phe LP/P - Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065058 p.Tyr182Cys LP/P rs543163491 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065059 p.Thr293Ile LP/P - Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065060 p.Val300Ala LP/P rs104894691 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065061 p.Val300Met US rs563033008 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065062 p.Pro358Leu US rs143031195 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065063 p.Asn463Asp LP/P rs121908110 Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_081096 p.Thr314Met LP/P rs398124395 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] FKTN O75072 VAR_018278 p.Cys250Gly LP/P - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) [MIM:253800] FKTN O75072 VAR_018279 p.Asn446Asp LB/B rs41313301 - FKTN O75072 VAR_033926 p.Gly125Ser LB/B rs34006675 - FKTN O75072 VAR_033927 p.Arg203Gln LB/B rs34787999 - FKTN O75072 VAR_036334 p.Asp225Glu US rs779298204 A breast cancer sample FKTN O75072 VAR_036335 p.Asp225Asn US rs1298422772 A breast cancer sample FKTN O75072 VAR_039287 p.Arg179Thr LP/P rs119463994 Cardiomyopathy, dilated, 1X (CMD1X) [MIM:611615] FKTN O75072 VAR_039288 p.Arg307Gln LP/P rs119463992 Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4 (MDDGB4) [MIM:613152] FKTN O75072 VAR_039288 p.Arg307Gln LP/P rs119463992 Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) [MIM:611588] FKTN O75072 VAR_039289 p.Gln358Pro LP/P rs119463993 Cardiomyopathy, dilated, 1X (CMD1X) [MIM:611615] FKTN O75072 VAR_061296 p.Arg56Cys LB/B rs41277797 - FKTN O75072 VAR_065050 p.Ala114Thr LP/P rs119463995 Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) [MIM:611588] FKTN O75072 VAR_065051 p.Ala170Glu LP/P rs119464997 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) [MIM:253800] FKTN O75072 VAR_065052 p.Phe176Ser LP/P rs119463996 Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) [MIM:611588] FKTN O75072 VAR_065053 p.Arg246Gly LP/P - Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4 (MDDGB4) [MIM:613152] FKTN O75072 VAR_065054 p.Tyr371Cys LP/P rs119464998 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) [MIM:253800] FLACC1 Q96Q35 VAR_045625 p.Val43Leu LB/B rs13014235 - FLAD1 Q8NFF5 VAR_077069 p.Pro107Leu LB/B rs773925274 - FLAD1 Q8NFF5 VAR_077070 p.Arg530Cys LP/P rs771466122 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD) [MIM:255100] FLCN Q8NFG4 VAR_025356 p.Ser79Trp US rs137852930 A sporadic colorectal carcinoma FLCN Q8NFG4 VAR_025357 p.Ala238Val US - A renal cell carcinoma cell line FLCN Q8NFG4 VAR_025358 p.Arg320Gln US rs143483053 A primary colorectal cancer FLCN Q8NFG4 VAR_025359 p.Arg392Gly US rs1060502374 A primary colorectal cancer FLCN Q8NFG4 VAR_025360 p.Ala444Ser US - A primary clear-cell renal cell carcinoma FLCN Q8NFG4 VAR_025361 p.Ala445Thr US rs41419545 A sporadic colorectal carcinoma FLCN Q8NFG4 VAR_066023 p.Ser108Ile LP/P - Birt-Hogg-Dube syndrome 1 (BHD1) [MIM:135150] FLCN Q8NFG4 VAR_066024 p.Glu132Lys LP/P - Primary spontaneous pneumothorax (PSP) [MIM:173600] FLCN Q8NFG4 VAR_066026 p.Arg239Cys LP/P rs78683075 Renal cell carcinoma (RCC) [MIM:144700] FLCN Q8NFG4 VAR_066027 p.Arg362Cys LB/B rs557336321 - FLCN Q8NFG4 VAR_066028 p.His429Tyr LP/P rs375082054 Primary spontaneous pneumothorax (PSP) [MIM:173600] FLCN Q8NFG4 VAR_066029 p.Lys508Arg LP/P rs199643834 Birt-Hogg-Dube syndrome 1 (BHD1) [MIM:135150] FLG P20930 VAR_033931 p.Gly3436Ala LB/B rs2065955 - FLG P20930 VAR_045968 p.Ser1184Leu LB/B rs3120649 - FLG P20930 VAR_045969 p.Arg1376Gly LB/B rs11581433 - FLG P20930 VAR_045970 p.Arg1437Cys LB/B rs12750571 - FLG P20930 VAR_045971 p.Ala1805Val LB/B rs12405241 - FLG P20930 VAR_045972 p.His1961Gln LB/B rs3126079 - FLG P20930 VAR_045973 p.Ile2022Thr LB/B rs142592778 - FLG P20930 VAR_045974 p.His2507Gln LB/B rs3126074 - FLG P20930 VAR_048472 p.Arg2540Gln LB/B rs148050570 - FLG P20930 VAR_048473 p.Asp2781Tyr LB/B rs759244716 - FLG P20930 VAR_048474 p.Ser3371Phe LB/B rs3120647 - FLG P20930 VAR_048475 p.Ser3396Pro LB/B rs528344105 - FLG P20930 VAR_048476 p.His3415Tyr LB/B rs7512553 - FLG P20930 VAR_048477 p.Ser3427Tyr LB/B rs11204978 - FLG P20930 VAR_048478 p.His3437Gln LB/B rs12073613 - FLG P20930 VAR_048479 p.Arg3490Cys LB/B rs113933537 - FLG P20930 VAR_048480 p.Gln3512Arg LB/B rs571269174 - FLG P20930 VAR_048481 p.Asp3584Asn LB/B rs3814300 - FLG P20930 VAR_048482 p.Ser3695Phe LB/B rs3120647 - FLG P20930 VAR_048483 p.Thr3696Ala LB/B rs537909579 - FLG P20930 VAR_048484 p.Ser3720Pro LB/B rs11584340 - FLG P20930 VAR_048485 p.His3739Tyr LB/B rs7512553 - FLG P20930 VAR_048486 p.Ser3751Tyr LB/B rs776603551 - FLG P20930 VAR_048487 p.Gly3760Ala LB/B rs768192328 - FLG P20930 VAR_048488 p.His3761Gln LB/B rs755367746 - FLG P20930 VAR_048489 p.Arg3814Cys LB/B rs146212122 - FLG P20930 VAR_048490 p.Gly3827Trp LB/B rs140464988 - FLG P20930 VAR_048491 p.Asp3908Asn LB/B rs3814300 - FLG P20930 VAR_048492 p.Ser3935Pro LB/B rs3126065 - FLG P20930 VAR_048493 p.Ser3970Leu LB/B rs3814299 - FLG P20930 VAR_059155 p.Thr454Ala LB/B rs2011331 - FLG P20930 VAR_059156 p.Pro478Ser LB/B rs11584340 - FLG P20930 VAR_059157 p.Thr725Ile LB/B rs3120655 - FLG P20930 VAR_059158 p.Ser1482Tyr LB/B rs11204978 - FLG P20930 VAR_059159 p.Arg1699Cys LB/B rs12405278 - FLG P20930 VAR_059160 p.Ser1750Phe LB/B rs3120647 - FLG P20930 VAR_059161 p.His1816Gln LB/B rs12073613 - FLG P20930 VAR_059162 p.Arg1891Gln LB/B rs12407748 - FLG P20930 VAR_059163 p.Ala2108Val LB/B rs7522925 - FLG P20930 VAR_059164 p.Tyr2119His LB/B rs7512553 - FLG P20930 VAR_059165 p.Tyr2194His LB/B rs2184953 - FLG P20930 VAR_059166 p.Gly2545Arg LB/B rs3126072 - FLG P20930 VAR_059167 p.Tyr3105Asp LB/B rs2065958 - FLG P20930 VAR_059168 p.Val3179Gly LB/B rs2065957 - FLG P20930 VAR_059169 p.Trp3503Gly LB/B rs12728908 - FLG P20930 VAR_059170 p.Arg3564His LB/B rs7518080 - FLG P20930 VAR_059171 p.Glu3593Asp LB/B rs12083389 - FLG P20930 VAR_059172 p.His3630Tyr LB/B rs9436065 - FLG P20930 VAR_061049 p.Gly332Val LB/B rs41267154 - FLG P20930 VAR_061050 p.Gly444Arg LB/B rs11588170 - FLG P20930 VAR_061051 p.Ser742Tyr LB/B rs3120654 - FLG P20930 VAR_061052 p.Arg1684His LB/B rs12407807 - FLG2 Q5D862 VAR_042868 p.Leu41Phe LB/B rs3818831 - FLG2 Q5D862 VAR_042869 p.Arg107Gln LB/B rs2282304 - FLG2 Q5D862 VAR_042870 p.Gly137Glu LB/B rs6587667 - FLG2 Q5D862 VAR_042871 p.Arg276Gln LB/B rs2282303 - FLG2 Q5D862 VAR_042872 p.Cys298Ser LB/B rs2282302 - FLG2 Q5D862 VAR_042873 p.Glu723Lys LB/B rs16842865 - FLG2 Q5D862 VAR_042874 p.Tyr881Ser LB/B rs79239476 - FLG2 Q5D862 VAR_042875 p.His1249Arg LB/B rs16833974 - FLG2 Q5D862 VAR_042876 p.Glu1992Asp LB/B rs1858484 - FLG2 Q5D862 VAR_042877 p.Gln2239His LB/B rs12736606 - FLG2 Q5D862 VAR_059173 p.Ser958Tyr LB/B rs12411129 - FLG2 Q5D862 VAR_085409 p.Ile12Thr LB/B rs774342933 - FLG2 Q5D862 VAR_085410 p.Ala1450Val LB/B - - FLI1 Q01543 VAR_078929 p.Arg324Trp LP/P rs773148506 Bleeding disorder, platelet-type, 21 (BDPLT21) [MIM:617443] FLI1 Q01543 VAR_078930 p.Arg337Gln LP/P rs1064797086 Bleeding disorder, platelet-type, 21 (BDPLT21) [MIM:617443] FLI1 Q01543 VAR_078931 p.Arg337Trp LP/P rs1064797083 Bleeding disorder, platelet-type, 21 (BDPLT21) [MIM:617443] FLI1 Q01543 VAR_078932 p.Tyr343Cys LP/P rs1064797084 Bleeding disorder, platelet-type, 21 (BDPLT21) [MIM:617443] FLI1 Q01543 VAR_078933 p.Lys345Glu LP/P rs1064797087 Bleeding disorder, platelet-type, 21 (BDPLT21) [MIM:617443] FLII Q13045 VAR_029258 p.Arg1243His LB/B rs8821 - FLNA P21333 VAR_012831 p.Val320Ala LB/B rs1064816 - FLNA P21333 VAR_012832 p.Phe370Leu LB/B rs1064817 - FLNA P21333 VAR_012833 p.Val552Ala LB/B rs730319 - FLNA P21333 VAR_012834 p.Leu656Phe LP/P rs137853311 Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049] FLNA P21333 VAR_012835 p.Ala1764Thr LB/B rs57108893 - FLNA P21333 VAR_015699 p.Glu82Val LP/P rs28935169 Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049] FLNA P21333 VAR_015700 p.Pro207Leu LP/P rs28935469 Otopalatodigital syndrome 1 (OPD1) [MIM:311300] FLNA P21333 VAR_015701 p.Glu254Lys LP/P rs28935470 Otopalatodigital syndrome 2 (OPD2) [MIM:304120] FLNA P21333 VAR_015702 p.Asp1159Ala LP/P rs28935471 Frontometaphyseal dysplasia 1 (FMD1) [MIM:305620] FLNA P21333 VAR_015703 p.Ala1188Thr LP/P rs28935472 Melnick-Needles syndrome (MNS) [MIM:309350] FLNA P21333 VAR_015704 p.Ser1199Leu LP/P rs28935473 Melnick-Needles syndrome (MNS) [MIM:309350] FLNA P21333 VAR_015713 p.Gln170Pro LP/P rs863223628 Otopalatodigital syndrome 2 (OPD2) [MIM:304120] FLNA P21333 VAR_015714 p.Leu172Phe LP/P - Otopalatodigital syndrome 1 (OPD1) [MIM:311300] FLNA P21333 VAR_015715 p.Arg196Gly LP/P - Otopalatodigital syndrome 2 (OPD2) [MIM:304120] FLNA P21333 VAR_015716 p.Arg196Trp LP/P rs137853317 Otopalatodigital syndrome 1 (OPD1) [MIM:311300] FLNA P21333 VAR_015717 p.Ala200Ser LP/P - Otopalatodigital syndrome 2 (OPD2) [MIM:304120] FLNA P21333 VAR_015718 p.Ala273Pro LP/P - Otopalatodigital syndrome 2 (OPD2) [MIM:304120] FLNA P21333 VAR_015719 p.Thr555Lys LP/P rs782611953 Otopalatodigital syndrome 2 (OPD2) [MIM:304120] FLNA P21333 VAR_015720 p.Asp1184Glu LP/P rs80338837 Melnick-Needles syndrome (MNS) [MIM:309350] FLNA P21333 VAR_015721 p.Ser1186Leu LP/P rs137853312 Frontometaphyseal dysplasia 1 (FMD1) [MIM:305620] FLNA P21333 VAR_015723 p.Cys1645Phe LP/P - Otopalatodigital syndrome 2 (OPD2) [MIM:304120] FLNA P21333 VAR_022734 p.Ala39Gly LP/P rs137853313 Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049] FLNA P21333 VAR_031305 p.Met102Val LP/P - Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049] FLNA P21333 VAR_031306 p.Ala128Val LP/P rs137853315 Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049] FLNA P21333 VAR_031307 p.Ser149Phe LP/P - Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049] FLNA P21333 VAR_031308 p.Asp203Tyr LP/P rs137853314 Otopalatodigital syndrome 1 (OPD1) [MIM:311300] FLNA P21333 VAR_031309 p.Val528Met LB/B rs143873938 - FLNA P21333 VAR_031310 p.Ser1012Leu LB/B rs17091204 - FLNA P21333 VAR_031312 p.Gly1728Cys LP/P rs137853316 Frontometaphyseal dysplasia 1 (FMD1) [MIM:305620] FLNA P21333 VAR_032083 p.Ala1419Gly LB/B rs35504556 - FLNA P21333 VAR_058720 p.Cys210Phe LP/P rs137853318 Otopalatodigital syndrome 2 (OPD2) [MIM:304120] FLNA P21333 VAR_058721 p.Pro1291Leu LP/P rs137853319 FG syndrome 2 (FGS2) [MIM:300321] FLNA P21333 VAR_064156 p.Gly288Arg LP/P rs267606816 Cardiac valvular dysplasia, X-linked (CVDPX) [MIM:314400] FLNA P21333 VAR_064157 p.Pro637Gln LP/P rs267606815 Cardiac valvular dysplasia, X-linked (CVDPX) [MIM:314400] FLNA P21333 VAR_064158 p.Val711Asp LP/P rs267606817 Cardiac valvular dysplasia, X-linked (CVDPX) [MIM:314400] FLNA P21333 VAR_067251 p.Glu1803Lys LB/B rs368750879 - FLNA P21333 VAR_069803 p.Thr429Met LB/B rs36051194 - FLNA P21333 VAR_076500 p.Asn187Ser US - Otopalatodigital syndrome 2 (OPD2) [MIM:304120] FLNA P21333 VAR_076501 p.Ala267Thr US - Otopalatodigital syndrome 1 (OPD1) [MIM:311300] FLNA P21333 VAR_076502 p.Val804Asp US - Otopalatodigital syndrome 1 (OPD1) [MIM:311300] FLNA P21333 VAR_076503 p.Asp1142Val US - Frontometaphyseal dysplasia 1 (FMD1) [MIM:305620] FLNA P21333 VAR_076504 p.Val1163Leu US - Melnick-Needles syndrome (MNS) [MIM:309350] FLNA P21333 VAR_076505 p.His1840Arg US - Frontometaphyseal dysplasia 1 (FMD1) [MIM:305620] FLNA P21333 VAR_076506 p.Arg2391His US rs727503930 Otopalatodigital syndrome 1 (OPD1) [MIM:311300] FLNA P21333 VAR_085766 p.Val606Leu US - - FLNB O75369 VAR_017182 p.Val1018Met LB/B rs2276742 - FLNB O75369 VAR_017183 p.Asp1157Asn LB/B rs1131356 - FLNB O75369 VAR_031392 p.Glu1179Lys LB/B rs17058845 - FLNB O75369 VAR_031393 p.Val1471Met LB/B rs12632456 - FLNB O75369 VAR_033069 p.Phe161Cys LP/P rs80356506 Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033070 p.Gly168Ser LP/P rs80356504 Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033071 p.Leu171Arg LP/P rs80356494 Boomerang dysplasia (BOOMD) [MIM:112310] FLNB O75369 VAR_033072 p.Ala173Val LP/P rs121908894 Atelosteogenesis 1 (AO1) [MIM:108720] FLNB O75369 VAR_033073 p.Ser188Pro LP/P - Atelosteogenesis 1 (AO1) [MIM:108720] FLNB O75369 VAR_033074 p.Met202Val LP/P rs121908895 Atelosteogenesis 1 (AO1) [MIM:108720] FLNB O75369 VAR_033074 p.Met202Val LP/P rs121908895 Atelosteogenesis 3 (AO3) [MIM:108721] FLNB O75369 VAR_033075 p.Glu227Lys LP/P rs80356508 Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033076 p.Leu234Val LP/P rs80356507 Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033077 p.Ser235Pro LP/P rs121908896 Boomerang dysplasia (BOOMD) [MIM:112310] FLNB O75369 VAR_033078 p.Gly361Ser LP/P rs80356509 Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033079 p.Gly363Glu LP/P rs80356510 Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033080 p.Gly751Arg LP/P rs28937587 Atelosteogenesis 3 (AO3) [MIM:108721] FLNB O75369 VAR_033081 p.Leu1431Arg LP/P rs80356511 Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033083 p.Gly1586Arg LP/P rs80356513 Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033084 p.Val1592Asp LP/P rs80356514 Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033085 p.Pro1603Leu LP/P rs80356515 Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033086 p.Gly1691Ser LP/P rs80356503 Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033087 p.Gly1834Arg LP/P rs80356516 Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_035917 p.Arg566Gln US rs150747960 A breast cancer sample FLNB O75369 VAR_035918 p.Asn663Lys US - A breast cancer sample FLNB O75369 VAR_035919 p.Thr703Lys US - A breast cancer sample FLNB O75369 VAR_035920 p.Ala1534Gly US - A breast cancer sample FLNC Q14315 VAR_015705 p.Arg1567Gln LB/B rs2291569 - FLNC Q14315 VAR_015706 p.Asp1580Gly LB/B rs2643766 - FLNC Q14315 VAR_015707 p.Thr1599Ala LB/B rs2643767 - FLNC Q14315 VAR_015708 p.Lys2135Arg LB/B rs1063261 - FLNC Q14315 VAR_015709 p.Arg2203Pro LB/B rs1063262 - FLNC Q14315 VAR_015710 p.Ser2626Asn LB/B rs2639142 - FLNC Q14315 VAR_015711 p.Lys2637Gln LB/B rs767794768 - FLNC Q14315 VAR_066212 p.Ala193Thr LP/P rs387906587 Myopathy, distal, 4 (MPD4) [MIM:614065] FLNC Q14315 VAR_066213 p.Met251Thr LP/P rs387906586 Myopathy, distal, 4 (MPD4) [MIM:614065] FLNC Q14315 VAR_077036 p.Val123Ala LP/P rs1562991002 Cardiomyopathy, familial hypertrophic, 26 (CMH26) [MIM:617047] FLNC Q14315 VAR_077037 p.Asn290Lys US - Cardiomyopathy, familial hypertrophic, 26 (CMH26) [MIM:617047] FLNC Q14315 VAR_077038 p.Ala1539Thr LP/P rs1562999443 Cardiomyopathy, familial hypertrophic, 26 (CMH26) [MIM:617047] FLNC Q14315 VAR_077039 p.Ser1624Leu LP/P rs879255639 Cardiomyopathy, familial restrictive 5 (RCM5) [MIM:617047] FLNC Q14315 VAR_077040 p.Arg2133His LP/P rs1808925531 Cardiomyopathy, familial hypertrophic, 26 (CMH26) [MIM:617047] FLNC Q14315 VAR_077041 p.Gly2151Ser US - Cardiomyopathy, familial hypertrophic, 26 (CMH26) [MIM:617047] FLNC Q14315 VAR_077042 p.Ile2160Phe LP/P rs879255640 Cardiomyopathy, familial restrictive 5 (RCM5) [MIM:617047] FLNC Q14315 VAR_077043 p.Ala2430Val US rs200516164 Cardiomyopathy, familial hypertrophic, 26 (CMH26) [MIM:617047] FLNC Q14315 VAR_085683 p.Gly1674Ser LB/B rs374124083 - FLOT1 O75955 VAR_048415 p.Ser52Asn LB/B rs3180825 - FLOT2 Q14254 VAR_024375 p.Ala328Thr LB/B rs3736238 - FLRT2 O43155 VAR_050996 p.Arg486Gln LB/B rs17646457 - FLRT3 Q9NZU0 VAR_017152 p.His400Gln LB/B rs6079391 - FLRT3 Q9NZU0 VAR_050997 p.Ala377Thr LB/B rs8120693 - FLRT3 Q9NZU0 VAR_050998 p.Glu460Asp LB/B rs35253731 - FLRT3 Q9NZU0 VAR_064714 p.Ile452Val LB/B rs1393315241 - FLRT3 Q9NZU0 VAR_069950 p.Gln69Lys LP/P rs398124653 Hypogonadotropic hypogonadism 21 with or without anosmia (HH21) [MIM:615271] FLRT3 Q9NZU0 VAR_069951 p.Glu97Gly LP/P rs398124651 Hypogonadotropic hypogonadism 21 with or without anosmia (HH21) [MIM:615271] FLRT3 Q9NZU0 VAR_069952 p.Ser144Ile LP/P rs398124652 Hypogonadotropic hypogonadism 21 with or without anosmia (HH21) [MIM:615271] FLRT3 Q9NZU0 VAR_069953 p.Lys339Arg LP/P rs398124654 Hypogonadotropic hypogonadism 21 with or without anosmia (HH21) [MIM:615271] FLT1 P17948 VAR_042045 p.Lys60Thr LB/B rs56409818 - FLT1 P17948 VAR_042046 p.Glu144Lys LB/B rs55974987 - FLT1 P17948 VAR_042047 p.Arg281Gln LB/B rs55687105 - FLT1 P17948 VAR_042048 p.Leu422Ile US - A lung adenocarcinoma sample FLT1 P17948 VAR_042049 p.Arg781Gln US rs553261958 A glioma low grade oligodendroglioma sample FLT1 P17948 VAR_042050 p.Met938Val LB/B rs35549791 - FLT1 P17948 VAR_042051 p.Glu982Ala LB/B rs35832528 - FLT1 P17948 VAR_042052 p.Leu1061Val US - A bladder transitional cell carcinoma sample FLT1 P17948 VAR_049719 p.Ile128Leu LB/B rs35073261 - FLT3 P36888 VAR_034677 p.Asp7Gly LB/B rs12872889 - FLT3 P36888 VAR_034678 p.Thr227Met LB/B rs1933437 - FLT3 P36888 VAR_042069 p.Val158Ala LB/B rs56321896 - FLT3 P36888 VAR_042070 p.Asp324Asn LB/B rs35602083 - FLT3 P36888 VAR_042071 p.Asp358Val LB/B rs34172843 - FLT3 P36888 VAR_042072 p.Val557Ile LB/B rs35958982 - FLT3 P36888 VAR_054149 p.Val194Met LB/B rs146030737 - FLT3 P36888 VAR_061291 p.Ile417Leu LB/B rs56090538 - FLT3 P36888 VAR_065679 p.Asp835Glu US rs121913487 Acute lymphoblastic leukemia patients FLT3 P36888 VAR_065679 p.Asp835Glu US rs121913487 Acute myelogenous leukemia patients FLT3 P36888 VAR_065680 p.Asp835His US rs121913488 Acute lymphoblastic leukemia patients FLT3 P36888 VAR_065680 p.Asp835His US rs121913488 In acute myelogenous leukemia patients FLT3 P36888 VAR_065681 p.Asp835Asn US rs121913488 Acute lymphoblastic leukemia patients FLT3 P36888 VAR_065681 p.Asp835Asn US rs121913488 In acute myelogenous leukemia patients FLT3 P36888 VAR_065682 p.Asp835Val US rs121909646 Acute lymphoblastic leukemia patients FLT3 P36888 VAR_065682 p.Asp835Val US rs121909646 In acute myelogenous leukemia patients FLT3 P36888 VAR_065683 p.Asp835Tyr US rs121913488 Acute lymphoblastic leukemia patients FLT3 P36888 VAR_065683 p.Asp835Tyr US rs121913488 In acute myelogenous leukemia patients FLT3 P36888 VAR_065684 p.Ile836Met US rs121913232 Acute lymphoblastic leukemia patients FLT4 P35916 VAR_018407 p.Thr494Ala LB/B rs307826 - FLT4 P35916 VAR_018408 p.Pro641Ser LB/B rs55667289 - FLT4 P35916 VAR_018409 p.Gly857Arg LP/P rs267606818 Lymphatic malformation 1 (LMPHM1) [MIM:153100] FLT4 P35916 VAR_018410 p.His890Gln LB/B rs448012 - FLT4 P35916 VAR_018411 p.Pro954Ser LP/P rs34255532 Hemangioma, capillary infantile (HCI) [MIM:602089] FLT4 P35916 VAR_018412 p.His1035Arg LP/P rs121909653 Lymphatic malformation 1 (LMPHM1) [MIM:153100] FLT4 P35916 VAR_018413 p.Arg1041Pro LP/P rs121909650 Lymphatic malformation 1 (LMPHM1) [MIM:153100] FLT4 P35916 VAR_018414 p.Leu1044Pro LP/P rs121909651 Lymphatic malformation 1 (LMPHM1) [MIM:153100] FLT4 P35916 VAR_018415 p.Pro1114Leu LP/P rs121909652 Lymphatic malformation 1 (LMPHM1) [MIM:153100] FLT4 P35916 VAR_018416 p.Pro1137Ser LP/P - Hemangioma, capillary infantile (HCI) [MIM:602089] FLT4 P35916 VAR_018417 p.Arg1146His LB/B rs1130379 - FLT4 P35916 VAR_034379 p.Asn527Ser LB/B rs35874891 - FLT4 P35916 VAR_042062 p.Asn149Asp LB/B rs34221241 - FLT4 P35916 VAR_042063 p.Arg378Cys US rs372947534 A renal clear cell carcinoma sample FLT4 P35916 VAR_042064 p.His868Tyr LB/B rs35171798 - FLT4 P35916 VAR_042065 p.Thr1010Ile US - A metastatic melanoma sample FLT4 P35916 VAR_042066 p.Arg1031Gln LB/B rs56082504 - FLT4 P35916 VAR_042067 p.Asp1049Asn LB/B rs56310180 - FLT4 P35916 VAR_042068 p.Arg1075Gln LB/B rs1400220848 - FLT4 P35916 VAR_074044 p.Ala855Thr LP/P rs121909657 Lymphatic malformation 1 (LMPHM1) [MIM:153100] FLT4 P35916 VAR_074045 p.Val878Met LP/P rs121909654 Lymphatic malformation 1 (LMPHM1) [MIM:153100] FLT4 P35916 VAR_074046 p.Gln1020Leu LP/P - Lymphatic malformation 1 (LMPHM1) [MIM:153100] FLT4 P35916 VAR_074047 p.His1035Gln US - - FLT4 P35916 VAR_074048 p.Ile1086Thr LP/P rs121909655 Lymphatic malformation 1 (LMPHM1) [MIM:153100] FLT4 P35916 VAR_074049 p.Glu1106Lys LP/P rs121909656 Lymphatic malformation 1 (LMPHM1) [MIM:153100] FLT4 P35916 VAR_074051 p.Ser1235Cys LP/P - Lymphatic malformation 1 (LMPHM1) [MIM:153100] FLT4 P35916 VAR_083812 p.Leu1173Val US - Congenital heart defects, multiple types, 7 (CHTD7) [MIM:618780] FLVCR1 Q9Y5Y0 VAR_050297 p.Ala52Pro LB/B rs11120047 - FLVCR1 Q9Y5Y0 VAR_050298 p.Thr544Met LB/B rs3207090 - FLVCR1 Q9Y5Y0 VAR_065158 p.Asn121Asp LP/P rs267606820 Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033] FLVCR1 Q9Y5Y0 VAR_065159 p.Cys192Arg LP/P rs267606821 Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033] FLVCR1 Q9Y5Y0 VAR_065160 p.Ala241Thr LP/P rs267606819 Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033] FLVCR1 Q9Y5Y0 VAR_065161 p.Gly493Arg LP/P rs1558121050 Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033] FLVCR1 Q9Y5Y0 VAR_077884 p.Pro221Ser US rs753000469 - FLVCR2 Q9UPI3 VAR_018271 p.Val16Ala LB/B rs2287015 - FLVCR2 Q9UPI3 VAR_050299 p.Ala481Thr LB/B rs35126362 - FLVCR2 Q9UPI3 VAR_064043 p.Pro280Arg LP/P rs267606823 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] FLVCR2 Q9UPI3 VAR_064044 p.Leu398Val LP/P rs267606822 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] FLVCR2 Q9UPI3 VAR_064045 p.Thr430Arg LP/P rs267606825 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] FLVCR2 Q9UPI3 VAR_064410 p.Arg84His LP/P - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] FLVCR2 Q9UPI3 VAR_064412 p.Ala326Val LP/P rs267606824 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] FLVCR2 Q9UPI3 VAR_064413 p.Thr352Arg LP/P - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] FLVCR2 Q9UPI3 VAR_064414 p.Gly412Arg LP/P - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] FLVCR2 Q9UPI3 VAR_064415 p.Thr430Met LP/P rs267606825 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] FMC1 Q96HJ9 VAR_042520 p.Ser8Ala LB/B rs10265 - FMN1 Q68DA7 VAR_034630 p.Leu686Pro LB/B rs2306277 - FMN2 Q9NZ56 VAR_033932 p.Arg1468His LB/B rs3795677 - FMN2 Q9NZ56 VAR_049094 p.Arg1291Gly LB/B rs12732924 - FMN2 Q9NZ56 VAR_059290 p.Arg1148Gly LB/B rs12732924 - FMNL2 Q96PY5 VAR_032570 p.Tyr352Cys LB/B rs34119671 - FMNL2 Q96PY5 VAR_032571 p.Met504Thr LB/B rs11897929 - FMO1 Q01740 VAR_015358 p.His97Gln LB/B rs56841822 - FMO1 Q01740 VAR_015359 p.Ile303Thr LB/B rs28360418 - FMO1 Q01740 VAR_015360 p.Ile303Val LB/B rs16864314 - FMO1 Q01740 VAR_022204 p.Arg223Gln LB/B rs16864310 - FMO1 Q01740 VAR_022205 p.Ser227Thr LB/B - - FMO1 Q01740 VAR_022206 p.Ile322Val LB/B rs28360419 - FMO1 Q01740 VAR_022207 p.Phe327Leu LB/B rs28360420 - FMO1 Q01740 VAR_022208 p.Lys373Arg LB/B rs28360421 - FMO1 Q01740 VAR_022209 p.Arg474His LB/B rs28360433 - FMO2 Q99518 VAR_014840 p.Asp36Gly LB/B rs2020870 - FMO2 Q99518 VAR_014841 p.Phe81Ser LB/B rs2020860 - FMO2 Q99518 VAR_014842 p.Phe182Ser LB/B rs2307492 - FMO2 Q99518 VAR_014843 p.Ser195Leu LB/B rs2020862 - FMO2 Q99518 VAR_014844 p.Asn413Lys LB/B rs2020865 - FMO2 Q99518 VAR_015361 p.Val59Ile LB/B rs55708639 - FMO2 Q99518 VAR_015362 p.Arg238Gln LB/B rs28369895 - FMO2 Q99518 VAR_015363 p.Arg391Thr LB/B rs28369899 - FMO2 Q99518 VAR_022185 p.Phe69Tyr LB/B rs28745274 - FMO2 Q99518 VAR_022186 p.Glu314Gly LB/B rs2020863 - FMO3 P31513 VAR_002423 p.Met66Ile LP/P rs72549323 Trimethylaminuria (TMAU) [MIM:602079] FMO3 P31513 VAR_002424 p.Pro153Leu LP/P rs72549326 Trimethylaminuria (TMAU) [MIM:602079] FMO3 P31513 VAR_002425 p.Glu158Lys LB/B rs2266782 - FMO3 P31513 VAR_002426 p.Val257Met LB/B rs1736557 - FMO3 P31513 VAR_002427 p.Glu308Gly LB/B rs2266780 - FMO3 P31513 VAR_008145 p.Arg492Trp LP/P rs72549334 Trimethylaminuria (TMAU) [MIM:602079] FMO3 P31513 VAR_008146 p.Ala52Thr LP/P rs72549321 Trimethylaminuria (TMAU) [MIM:602079] FMO3 P31513 VAR_008147 p.Arg387Leu LP/P rs72549331 Trimethylaminuria (TMAU) [MIM:602079] FMO3 P31513 VAR_014845 p.Val277Ala LB/B rs2066530 - FMO3 P31513 VAR_014846 p.Glu362Gln LB/B rs2066532 - FMO3 P31513 VAR_015364 p.Asp132His LB/B rs12072582 - FMO3 P31513 VAR_015365 p.Leu360Pro LB/B rs28363581 - FMO3 P31513 VAR_015366 p.Gly503Arg LB/B rs72549335 - FMO3 P31513 VAR_018345 p.Asp198Glu LB/B rs529940450 - FMO3 P31513 VAR_018346 p.Arg205Cys LB/B rs28363549 - FMO3 P31513 VAR_037306 p.Glu32Lys LP/P rs72549320 Trimethylaminuria (TMAU) [MIM:602079] FMO3 P31513 VAR_037307 p.Asn61Ser LP/P rs72549322 Trimethylaminuria (TMAU) [MIM:602079] FMO3 P31513 VAR_037308 p.Met434Ile LP/P rs72549332 Trimethylaminuria (TMAU) [MIM:602079] FMO3 P31513 VAR_042705 p.Glu24Asp US - - FMO3 P31513 VAR_042706 p.Asn61Lys US - - FMO3 P31513 VAR_042707 p.Lys416Asn LB/B rs774785217 - FMO4 P31512 VAR_015367 p.Ile37Thr LB/B rs72549338 - FMO4 P31512 VAR_015368 p.Val323Ala LB/B rs1042767 - FMO4 P31512 VAR_015369 p.Glu339Gln LB/B rs61342270 - FMO4 P31512 VAR_022305 p.Gly372Ser LB/B rs45599742 - FMO4 P31512 VAR_022306 p.Phe536Leu LB/B rs45487792 - FMO4 P31512 VAR_022307 p.Leu544Arg LB/B rs45528740 - FMO4 P31512 VAR_049090 p.Thr308Ser LB/B rs3737925 - FMO4 P31512 VAR_084652 p.Pro28His US rs866374389 - FMO5 P49326 VAR_015370 p.Pro457Leu LB/B rs72549314 - FMO5 P49326 VAR_022308 p.Pro400Ala LB/B rs28381218 - FMO5 P49326 VAR_022309 p.Arg506Ser LB/B rs28381223 - FMO6P O60774 VAR_015371 p.Val127Ile LB/B rs61731844 - FMO6P O60774 VAR_015372 p.Val257Ile LB/B rs2272797 - FMR1 Q06787 VAR_005234 p.Ile304Asn LP/P rs121434622 Fragile X syndrome (FXS) [MIM:300624] FMR1 Q06787 VAR_005235 p.Arg546His LB/B rs782651077 - FMR1 Q06787 VAR_029278 p.Ala145Ser LB/B rs29281 - FMR1 Q06787 VAR_064507 p.Arg138Gln LP/P rs200163413 Fragile X syndrome (FXS) [MIM:300624] FMR1 Q06787 VAR_075977 p.Gly266Glu LP/P rs1569545763 Fragile X syndrome (FXS) [MIM:300624] FMR1NB Q8N0W7 VAR_031254 p.Ala142Val LB/B rs764631 - FN1 P02751 VAR_036018 p.Asp940Asn US rs752106647 A breast cancer sample FN1 P02751 VAR_036019 p.Arg1120Pro US - A breast cancer sample FN1 P02751 VAR_036020 p.Asp2471Asn US rs1373375768 A colorectal cancer sample FN1 P02751 VAR_043917 p.Gln15Leu LB/B rs1250259 - FN1 P02751 VAR_043918 p.Tyr973Cys LP/P rs137854488 Glomerulopathy with fibronectin deposits 2 (GFND2) [MIM:601894] FN1 P02751 VAR_043919 p.Trp1925Arg LP/P rs137854486 Glomerulopathy with fibronectin deposits 2 (GFND2) [MIM:601894] FN1 P02751 VAR_043920 p.Leu1974Arg LP/P rs137854487 Glomerulopathy with fibronectin deposits 2 (GFND2) [MIM:601894] FN1 P02751 VAR_043921 p.Ile2051Val LB/B rs1250209 - FN1 P02751 VAR_056576 p.Ser1558Arg LB/B rs11687611 - FN1 P02751 VAR_056577 p.Ile2212Val LB/B rs17449032 - FN1 P02751 VAR_059529 p.Thr817Pro LB/B rs2577301 - FN1 P02751 VAR_061486 p.Val2261Ile LB/B rs1250209 - FN1 P02751 VAR_080523 p.Cys87Phe LP/P rs1553669703 Spondylometaphyseal dysplasia, corner fracture type (SMDCF) [MIM:184255] FN1 P02751 VAR_080524 p.Cys123Arg LP/P rs1553667072 Spondylometaphyseal dysplasia, corner fracture type (SMDCF) [MIM:184255] FN1 P02751 VAR_080525 p.Cys225Trp LP/P rs1181638652 Spondylometaphyseal dysplasia, corner fracture type (SMDCF) [MIM:184255] FN1 P02751 VAR_080526 p.Tyr240Asp LP/P rs1553659131 Spondylometaphyseal dysplasia, corner fracture type (SMDCF) [MIM:184255] FN1 P02751 VAR_080527 p.Cys260Gly LP/P rs1553658926 Spondylometaphyseal dysplasia, corner fracture type (SMDCF) [MIM:184255] FN3KRP Q9HA64 VAR_034057 p.Ala57Val LB/B rs3748811 - FNBP1 Q96RU3 VAR_029388 p.Ser490Asn LB/B rs1023000 - FNBP4 Q8N3X1 VAR_032623 p.Glu125Gly LB/B rs34962598 - FNBP4 Q8N3X1 VAR_032624 p.Thr794Ala LB/B rs35040940 - FNBP4 Q8N3X1 VAR_075345 p.Thr228Met US rs780064080 - FNDC1 Q4ZHG4 VAR_031826 p.Thr438Ala LB/B rs509648 - FNDC1 Q4ZHG4 VAR_031827 p.Glu463Gln LB/B rs420137 - FNDC1 Q4ZHG4 VAR_031828 p.Gln1003Glu LB/B rs370434 - FNDC1 Q4ZHG4 VAR_031829 p.Asp1180Glu LB/B rs420054 - FNDC1 Q4ZHG4 VAR_031830 p.Leu1261Pro LB/B rs3003174 - FNDC1 Q4ZHG4 VAR_031831 p.Gln1280Arg LB/B rs2501176 - FNDC1 Q4ZHG4 VAR_031832 p.Thr1504Lys LB/B rs386360 - FNDC1 Q4ZHG4 VAR_031833 p.Thr1574Ala LB/B rs7763726 - FNDC3A Q9Y2H6 VAR_059655 p.Ser107Gly LB/B rs34539036 - FNDC3B Q53EP0 VAR_031856 p.Thr179Ser LB/B rs7652177 - FNDC3B Q53EP0 VAR_035921 p.Pro927Ser US - A breast cancer sample FNDC3B Q53EP0 VAR_047814 p.Met1080Val LB/B rs2276806 - FNDC7 Q5VTL7 VAR_042570 p.Ser309Asn LB/B rs11582005 - FNDC7 Q5VTL7 VAR_042571 p.Val353Ala LB/B rs4494160 - FNDC7 Q5VTL7 VAR_042572 p.Asn367Ser LB/B rs3006870 - FNDC7 Q5VTL7 VAR_042573 p.Pro685Leu LB/B rs1277017 - FNDC8 Q8TC99 VAR_031770 p.Ser36Pro LB/B rs1871892 - FNDC8 Q8TC99 VAR_050999 p.Ala127Thr LB/B rs12952106 - FNDC9 Q8TBE3 VAR_047138 p.His50Asn LB/B rs17852104 - FNDC9 Q8TBE3 VAR_047139 p.Val138Ile LB/B rs10037485 - FNDC9 Q8TBE3 VAR_047140 p.Pro166Ala LB/B rs17054522 - FNIP1 Q8TF40 VAR_036824 p.Gly76Cys LB/B rs7730228 - FNIP1 Q8TF40 VAR_036825 p.Ser354Leu LB/B rs13177318 - FNIP1 Q8TF40 VAR_036826 p.Gln648Arg LB/B rs26008 - FNIP1 Q8TF40 VAR_036827 p.Val738Leu LB/B rs12109782 - FNIP1 Q8TF40 VAR_036828 p.Ile844Val LB/B rs7717874 - FNIP1 Q8TF40 VAR_086808 p.Ser1118Asn US - Immunodeficiency 93 and hypertrophic cardiomyopathy (IMD93) [MIM:619705] FNIP2 Q9P278 VAR_045612 p.Thr298Ser LB/B rs2276938 - FOCAD Q5VW36 VAR_037877 p.Leu166Ser LB/B rs10511687 - FOCAD Q5VW36 VAR_037878 p.Val234Ile LB/B rs10441706 - FOCAD Q5VW36 VAR_037879 p.Ile523Val LB/B rs17832431 - FOCAD Q5VW36 VAR_037880 p.Ser718Thr LB/B rs7875872 - FOCAD Q5VW36 VAR_037881 p.Thr1373Pro LB/B rs3206852 - FOCAD Q5VW36 VAR_037882 p.Lys1668Glu LB/B rs4977881 - FOCAD Q5VW36 VAR_049528 p.Glu721Lys LB/B rs10964742 - FOCAD Q5VW36 VAR_061251 p.Thr1373Ala LB/B rs3206852 - FOCAD Q5VW36 VAR_061252 p.Thr1373Ser LB/B rs3206852 - FOCAD Q5VW36 VAR_087619 p.Arg563Cys US - Liver disease, severe congenital (SCOLIV) [MIM:619991] FOCAD Q5VW36 VAR_087621 p.Gly1177Arg US - Liver disease, severe congenital (SCOLIV) [MIM:619991] FOCAD Q5VW36 VAR_087622 p.Ala1232Pro US - Liver disease, severe congenital (SCOLIV) [MIM:619991] FOCAD Q5VW36 VAR_087623 p.Lys1668Asn US - Liver disease, severe congenital (SCOLIV) [MIM:619991] FOCAD Q5VW36 VAR_087624 p.Leu1780Pro US - Liver disease, severe congenital (SCOLIV) [MIM:619991] FOLH1 Q04609 VAR_012736 p.His475Tyr LB/B rs61886492 - FOLH1 Q04609 VAR_024592 p.Tyr75His LB/B rs202676 - FOLH1 Q04609 VAR_028882 p.Val627Leu LB/B rs2988342 - FOLH1 Q04609 VAR_036398 p.Ala23Thr US - A colorectal cancer sample FOLH1B Q9HBA9 VAR_059782 p.Asn151Lys LB/B rs10830339 - FOLR1 P15328 VAR_011963 p.Trp160Cys LB/B rs1801932 - FOLR1 P15328 VAR_059284 p.Trp28Arg LB/B rs7928649 - FOLR2 P14207 VAR_036408 p.His236Asn US - A breast cancer sample FOSB P53539 VAR_022286 p.Gly33Ser LB/B rs28381241 - FOXA1 P55317 VAR_013457 p.Ala83Thr LB/B rs7144658 - FOXA1 P55317 VAR_013458 p.Ser448Asn LB/B rs33984772 - FOXA1 P55317 VAR_015183 p.Gly72Ala LB/B - - FOXA1 P55317 VAR_015185 p.Gln185Arg LB/B - - FOXA1 P55317 VAR_055835 p.Gly87Glu LB/B rs35220193 - FOXA2 Q9Y261 VAR_008858 p.Ala328Val US rs199796119 - FOXA3 P55318 VAR_008859 p.Gly91Arg LB/B rs758330593 - FOXC1 Q12948 VAR_007815 p.Phe112Ser LP/P rs104893951 Anterior segment dysgenesis 3 (ASGD3) [MIM:601631] FOXC1 Q12948 VAR_007815 p.Phe112Ser LP/P rs104893951 Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_007816 p.Ile126Met LP/P rs104893958 Anterior segment dysgenesis 3 (ASGD3) [MIM:601631] FOXC1 Q12948 VAR_007816 p.Ile126Met LP/P rs104893958 Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_007817 p.Ser131Leu LP/P rs104893957 Anterior segment dysgenesis 3 (ASGD3) [MIM:601631] FOXC1 Q12948 VAR_007817 p.Ser131Leu LP/P rs104893957 Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_007944 p.Ser82Thr LP/P rs104893953 Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_007945 p.Ile87Met LP/P rs104893954 Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_018150 p.Met161Lys LP/P - Anterior segment dysgenesis 3 (ASGD3) [MIM:601631] FOXC1 Q12948 VAR_018150 p.Met161Lys LP/P - Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_058722 p.Pro79Leu LP/P - Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_058723 p.Pro79Arg LP/P - Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_058724 p.Pro79Thr LP/P - Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_058725 p.Leu86Phe LP/P rs886039568 Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_058726 p.Ile91Ser LP/P - Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_058727 p.Ile91Thr LP/P - Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_058728 p.Tyr115Ser LP/P - Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_058729 p.Arg127His LP/P rs1085307884 Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_058730 p.Leu130Phe LP/P rs121909338 Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_058731 p.Gly149Asp LP/P - Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_058732 p.Met161Val LP/P - Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_058733 p.Gly165Arg LP/P - Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_058734 p.Arg169Pro LP/P - Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_078501 p.Ala85Pro US - Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_078502 p.Met109Val LP/P rs917382067 Anterior segment dysgenesis 3 (ASGD3) [MIM:601631] FOXC1 Q12948 VAR_078503 p.Ile126Ser LP/P rs483352810 Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_078504 p.Arg127Leu LP/P rs1085307884 Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_078505 p.His128Arg LP/P - Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_078506 p.Ser131Trp LP/P - Anterior segment dysgenesis 3 (ASGD3) [MIM:601631] FOXC1 Q12948 VAR_078507 p.Cys135Tyr LP/P - Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_078508 p.Lys138Glu LP/P - Anterior segment dysgenesis 3 (ASGD3) [MIM:601631] FOXC1 Q12948 VAR_078509 p.Trp152Gly LP/P - Anterior segment dysgenesis 3 (ASGD3) [MIM:601631] FOXC1 Q12948 VAR_078510 p.Arg170Trp US rs1581373890 Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_078511 p.Pro297Ser LP/P rs79691946 Anterior segment dysgenesis 3 (ASGD3) [MIM:601631] FOXC1 Q12948 VAR_078512 p.Thr368Asn US - - FOXC2 Q99958 VAR_018418 p.Ser125Leu LP/P rs121909106 Lymphedema-distichiasis syndrome (LPHDST) [MIM:153400] FOXC2 Q99958 VAR_060950 p.Ser191Phe LB/B rs78018668 - FOXD1 Q16676 VAR_077596 p.Arg55Pro LB/B rs775281482 - FOXD1 Q16676 VAR_077597 p.Ala88Gly LB/B rs7705335 - FOXD1 Q16676 VAR_077598 p.Pro228Leu LB/B rs562222810 - FOXD1 Q16676 VAR_077599 p.Ala326Thr LB/B rs552595262 - FOXD1 Q16676 VAR_077600 p.Ala336Val LB/B rs1039708369 - FOXD1 Q16676 VAR_077601 p.Pro352Arg LB/B rs951256776 - FOXD1 Q16676 VAR_077602 p.Ala356Gly LB/B rs917127030 - FOXD1 Q16676 VAR_077603 p.Ile364Met LB/B rs992724147 - FOXD1 Q16676 VAR_077605 p.Pro396Leu LB/B rs540644822 - FOXD1 Q16676 VAR_077606 p.Val437Ile LB/B - - FOXD1 Q16676 VAR_077607 p.Ala442Ser LB/B - - FOXD2 O60548 VAR_061185 p.Ala368Pro LB/B rs2405913 - FOXD4 Q12950 VAR_028177 p.Ile134Phe LB/B rs10959293 - FOXD4 Q12950 VAR_028178 p.Asp136Gly LB/B rs2492216 - FOXD4 Q12950 VAR_028179 p.Ile152Val LB/B rs7031810 - FOXD4L1 Q9NU39 VAR_059299 p.Val29Ile LB/B rs9308683 - FOXE1 O00358 VAR_008857 p.Ala65Val LP/P rs104894110 Bamforth-Lazarus syndrome (BAMLAZ) [MIM:241850] FOXE1 O00358 VAR_016882 p.Ser57Asn LP/P rs28937575 Bamforth-Lazarus syndrome (BAMLAZ) [MIM:241850] FOXE1 O00358 VAR_027508 p.Arg102Cys LB/B rs104894111 - FOXE1 O00358 VAR_075978 p.Arg73Ser LP/P - Bamforth-Lazarus syndrome (BAMLAZ) [MIM:241850] FOXE1 O00358 VAR_075979 p.Asn132Asp LB/B rs762041111 - FOXE1 O00358 VAR_075980 p.Phe137Ser US - - FOXE1 O00358 VAR_075981 p.Ala248Gly LP/P rs538912281 Thyroid cancer, non-medullary, 4 (NMTC4) [MIM:616534] FOXE3 Q13461 VAR_026234 p.Gly196Ala LB/B rs281865461 - FOXE3 Q13461 VAR_026235 p.Ser300Gly LB/B rs552420470 - FOXE3 Q13461 VAR_062582 p.Gly49Ala LB/B rs566961335 - FOXE3 Q13461 VAR_062583 p.Met82Val US rs746531116 Anterior segment dysgenesis 2 (ASGD2) [MIM:610256] FOXE3 Q13461 VAR_062584 p.Arg90Leu LP/P rs371048362 Anterior segment dysgenesis 2 (ASGD2) [MIM:610256] FOXE3 Q13461 VAR_072783 p.Arg120Gly LP/P - Anterior segment dysgenesis 2 (ASGD2) [MIM:610256] FOXE3 Q13461 VAR_078112 p.Glu103Lys LP/P rs1057518738 Cataract 34, multiple types (CTRCT34) [MIM:612968] FOXE3 Q13461 VAR_078113 p.Asn117Lys LP/P rs1057518737 Cataract 34, multiple types (CTRCT34) [MIM:612968] FOXE3 Q13461 VAR_078114 p.Gly137Asp LP/P rs749960549 Aortic aneurysm, familial thoracic 11 (AAT11) [MIM:617349] FOXE3 Q13461 VAR_078115 p.Asp153His LP/P rs367943249 Aortic aneurysm, familial thoracic 11 (AAT11) [MIM:617349] FOXF1 Q12946 VAR_071016 p.Pro49Gln LP/P - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071017 p.Pro49Ser LP/P rs1597291206 Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071018 p.Ser52Phe LP/P - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071019 p.Tyr53Cys LP/P - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071020 p.Ile74Asn LP/P rs1597291255 Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071021 p.Phe85Ile LP/P - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071022 p.Phe85Leu LP/P - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071023 p.Phe85Ser LP/P - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071024 p.Arg86Trp LP/P - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071025 p.Gly91Glu LP/P - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071026 p.Gly91Val LP/P - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071027 p.Val96Met LP/P - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071028 p.Arg97His LP/P - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071029 p.His98Gln LP/P rs1597291300 Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071030 p.Ser101Leu LP/P rs1969550671 Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071031 p.Phe106Leu LP/P rs1597291318 Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071033 p.Gly119Asp LP/P - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071034 p.Pro126Leu LP/P - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071035 p.Arg139Leu LP/P - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_071036 p.Arg330Trp US rs761162914 Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXF1 Q12946 VAR_076592 p.Phe77Leu LP/P - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380] FOXG1 P55316 VAR_063885 p.Phe215Leu LP/P rs267606828 Rett syndrome congenital variant (RTTCV) [MIM:613454] FOXG1 P55316 VAR_064395 p.Pro109Leu LB/B rs398124203 - FOXG1 P55316 VAR_064396 p.Arg244Cys LP/P rs786205009 Rett syndrome congenital variant (RTTCV) [MIM:613454] FOXG1 P55316 VAR_078715 p.Met191Arg US - - FOXG1 P55316 VAR_078717 p.Asn232Ser US - - FOXH1 O75593 VAR_011381 p.Ser113Thr LB/B rs144830740 - FOXH1 O75593 VAR_011382 p.Thr125Ser LB/B rs112028242 - FOXI1 Q12951 VAR_049160 p.Pro243Ser LB/B rs35678180 - FOXI1 Q12951 VAR_049161 p.Asn362Ser LB/B rs3828625 - FOXI3 A8MTJ6 VAR_088275 p.Phe102Tyr US - Craniofacial microsomia 2 (CFM2) [MIM:620444] FOXI3 A8MTJ6 VAR_088277 p.Pro147Thr LP/P - Craniofacial microsomia 2 (CFM2) [MIM:620444] FOXI3 A8MTJ6 VAR_088278 p.Ser169Asn LP/P - Craniofacial microsomia 2 (CFM2) [MIM:620444] FOXI3 A8MTJ6 VAR_088279 p.Leu199Phe LP/P - Craniofacial microsomia 2 (CFM2) [MIM:620444] FOXI3 A8MTJ6 VAR_088280 p.Cys225Arg LP/P - Craniofacial microsomia 2 (CFM2) [MIM:620444] FOXI3 A8MTJ6 VAR_088281 p.Phe234Leu LP/P rs955268781 Craniofacial microsomia 2 (CFM2) [MIM:620444] FOXI3 A8MTJ6 VAR_088282 p.Phe234Val LP/P - Craniofacial microsomia 2 (CFM2) [MIM:620444] FOXI3 A8MTJ6 VAR_088283 p.Arg235Cys LP/P rs1316696594 Craniofacial microsomia 2 (CFM2) [MIM:620444] FOXI3 A8MTJ6 VAR_088284 p.Arg236Gln LP/P rs182321240 Craniofacial microsomia 2 (CFM2) [MIM:620444] FOXI3 A8MTJ6 VAR_088285 p.Arg236Trp LP/P - Craniofacial microsomia 2 (CFM2) [MIM:620444] FOXI3 A8MTJ6 VAR_088286 p.Arg238Gln LP/P rs923448937 Craniofacial microsomia 2 (CFM2) [MIM:620444] FOXI3 A8MTJ6 VAR_088287 p.Arg240Cys LP/P rs1451029499 Craniofacial microsomia 2 (CFM2) [MIM:620444] FOXI3 A8MTJ6 VAR_088288 p.Arg240His LP/P rs1370585001 Craniofacial microsomia 2 (CFM2) [MIM:620444] FOXI3 A8MTJ6 VAR_088289 p.Pro355Leu LP/P rs965851622 Craniofacial microsomia 2 (CFM2) [MIM:620444] FOXJ2 Q9P0K8 VAR_021842 p.Pro310Ser LB/B rs2277415 - FOXJ2 Q9P0K8 VAR_049162 p.Pro229Arg LB/B rs879211194 - FOXJ3 Q9UPW0 VAR_039104 p.Val162Ala LB/B rs343376 - FOXJ3 Q9UPW0 VAR_039105 p.Thr377Pro LB/B rs1139978 - FOXL2 P58012 VAR_015181 p.Gly187Asp LP/P rs121908359 Premature ovarian failure 3 (POF3) [MIM:608996] FOXL2 P58012 VAR_015182 p.Pro285Ser LB/B - - FOXL2 P58012 VAR_016883 p.Ile84Ser LP/P rs28937884 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_016885 p.Leu106Phe LP/P rs1057516156 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_016886 p.Asn109Lys LP/P - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_016887 p.Ser217Phe LP/P rs797044527 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_021196 p.Ser58Leu LP/P - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_021197 p.Ala66Val LP/P - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_021198 p.Glu69Lys LP/P rs387906920 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_021199 p.His104Arg LP/P rs1057516153 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_021200 p.Asn105Ser LP/P - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_021201 p.Ala179Gly LB/B rs7432551 - FOXL2 P58012 VAR_021202 p.Lys193Arg LP/P rs1057516162 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_021203 p.Tyr215Cys LP/P rs1057516168 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_021204 p.Tyr258Asn LP/P rs28937885 Premature ovarian failure 3 (POF3) [MIM:608996] FOXL2 P58012 VAR_046490 p.Met65Val LP/P rs1559922621 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_046491 p.Ile80Thr LP/P - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_046492 p.Ile84Asn LP/P - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_046493 p.Phe90Ser LP/P - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_046494 p.Trp98Gly LP/P - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_046495 p.Ser101Arg LP/P rs1057516151 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_046496 p.Ile102Thr LP/P - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_046497 p.Arg103Cys LP/P - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_046498 p.Leu106Pro LP/P - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_062545 p.Ile63Thr LP/P rs1315073489 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_062546 p.Trp98Arg LP/P rs1057516149 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_062547 p.Leu108Pro LP/P - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_062548 p.Cys134Trp US rs1057519865 Granulosa-cell tumors of the ovary FOXL2 P58012 VAR_062549 p.Ser217Cys LP/P - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_078138 p.Arg349Gly LB/B rs201840174 - FOXM1 Q08050 VAR_020024 p.Ser643Pro LB/B rs3742076 - FOXM1 Q08050 VAR_025239 p.Ala402Glu LB/B rs28990715 - FOXM1 Q08050 VAR_025240 p.Phe450Leu LB/B rs28919868 - FOXM1 Q08050 VAR_025241 p.Pro669Arg LB/B rs28919869 - FOXM1 Q08050 VAR_025242 p.Pro673Leu LB/B rs28919870 - FOXN1 O15353 VAR_010376 p.Ala283Val LB/B - - FOXN1 O15353 VAR_020025 p.Arg69Cys LB/B rs2071587 - FOXN1 O15353 VAR_020026 p.Ala599Pro LB/B rs532648 - FOXN1 O15353 VAR_021843 p.Arg411Trp LB/B rs2286520 - FOXN1 O15353 VAR_083857 p.Glu169Lys US - T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant (TLIND) [MIM:618806] FOXN1 O15353 VAR_083858 p.Pro242Ser LB/B rs140921495 - FOXN1 O15353 VAR_083860 p.Arg320Trp LP/P rs1288977950 T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND) [MIM:601705] FOXN1 O15353 VAR_083860 p.Arg320Trp LP/P rs1288977950 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant (TLIND) [MIM:618806] FOXN1 O15353 VAR_083861 p.His321Asn US - T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant (TLIND) [MIM:618806] FOXN1 O15353 VAR_083862 p.Leu325Pro US - T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant (TLIND) [MIM:618806] FOXN1 O15353 VAR_083864 p.Pro430Ser LB/B rs61749867 - FOXN3 O00409 VAR_049163 p.Tyr337His LB/B rs1804717 - FOXN4 Q96NZ1 VAR_059300 p.Pro137Leu LB/B rs11609341 - FOXP1 Q9H334 VAR_065067 p.Ser5Pro LB/B rs762898505 - FOXP1 Q9H334 VAR_065068 p.Met101Val LB/B rs564508875 - FOXP1 Q9H334 VAR_065069 p.Pro215Ala LB/B rs146606219 - FOXP1 Q9H334 VAR_065070 p.Ser261Pro LB/B - - FOXP1 Q9H334 VAR_065071 p.Thr390Ser LB/B rs761840006 - FOXP1 Q9H334 VAR_065072 p.Val445Met LB/B rs147756430 - FOXP1 Q9H334 VAR_065073 p.Asn570Ser LB/B rs140161845 - FOXP1 Q9H334 VAR_065074 p.Asn597Thr US - Intellectual developmental disorder with language impairment and with or without autistic features (MRLIAF) [MIM:613670] FOXP1 Q9H334 VAR_065075 p.Thr613Asn LB/B rs1318614471 - FOXP1 Q9H334 VAR_075246 p.Ile107Thr US - Intellectual developmental disorder with language impairment and with or without autistic features (MRLIAF) [MIM:613670] FOXP1 Q9H334 VAR_075247 p.Arg465Gly LP/P rs869025202 Intellectual developmental disorder with language impairment and with or without autistic features (MRLIAF) [MIM:613670] FOXP1 Q9H334 VAR_075248 p.Arg514Cys LP/P rs869025203 Intellectual developmental disorder with language impairment and with or without autistic features (MRLIAF) [MIM:613670] FOXP1 Q9H334 VAR_075249 p.Trp534Arg LP/P rs587777855 Intellectual developmental disorder with language impairment and with or without autistic features (MRLIAF) [MIM:613670] FOXP2 O15409 VAR_012278 p.Arg553His LP/P rs121908377 Speech-language disorder 1 (SPCH1) [MIM:602081] FOXP3 Q9BZS1 VAR_011331 p.Phe371Cys LP/P rs122467169 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] FOXP3 Q9BZS1 VAR_011332 p.Ala384Thr LP/P rs122467170 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] FOXP3 Q9BZS1 VAR_011333 p.Arg397Trp LP/P rs28935477 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] FOXP3 Q9BZS1 VAR_023569 p.Ile363Val LP/P - Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] FOXP3 Q9BZS1 VAR_078971 p.Leu242Pro LP/P - Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] FOXP3 Q9BZS1 VAR_078972 p.Phe324Leu LP/P rs122467173 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] FOXP3 Q9BZS1 VAR_078973 p.Pro339Ala LP/P rs886044787 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] FOXP3 Q9BZS1 VAR_078974 p.Arg347His LP/P rs1557115786 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] FOXP3 Q9BZS1 VAR_078975 p.Phe373Ala LP/P rs122467172 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] FOXP3 Q9BZS1 VAR_078976 p.Phe374Cys LP/P - Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] FOXP4 Q8IVH2 VAR_036219 p.Ala464Thr US rs867245225 A breast cancer sample FOXQ1 Q9C009 VAR_031606 p.Thr60Pro LB/B rs9502889 - FOXQ1 Q9C009 VAR_031607 p.Gln61Pro LB/B rs9502890 - FOXR1 Q6PIV2 VAR_086656 p.Met280Leu US - - FOXR2 Q6PJQ5 VAR_028731 p.Val286Ala LB/B rs2375465 - FOXRED1 Q96CU9 VAR_030192 p.Ala343Pro LB/B rs17855445 - FOXRED1 Q96CU9 VAR_033856 p.Val145Ile LB/B rs34542988 - FOXRED1 Q96CU9 VAR_051003 p.His380Arg LB/B rs7116126 - FOXRED1 Q96CU9 VAR_064571 p.Asn430Ser LP/P rs267606830 Mitochondrial complex I deficiency, nuclear type 19 (MC1DN19) [MIM:618241] FOXRED1 Q96CU9 VAR_073273 p.Arg352Trp LP/P rs387907087 Mitochondrial complex I deficiency, nuclear type 19 (MC1DN19) [MIM:618241] FOXRED2 Q8IWF2 VAR_043704 p.Phe179Leu LB/B rs760718 - FOXRED2 Q8IWF2 VAR_043705 p.Asn308Ser LB/B rs2277841 - FOXRED2 Q8IWF2 VAR_043706 p.Lys374Arg LB/B rs35813894 - FOXRED2 Q8IWF2 VAR_043707 p.Glu637Asp LB/B rs35748020 - FOXRED2 Q8IWF2 VAR_062247 p.Arg71Cys LB/B rs56767103 - FOXS1 O43638 VAR_021844 p.Pro292Ala LB/B rs2296917 - FPGS Q05932 VAR_043929 p.Val437Asp LB/B rs12686275 - FPGS Q05932 VAR_043930 p.Ala489Val LB/B rs17855900 - FPGS Q05932 VAR_043931 p.Ser528Thr LB/B rs34354111 - FPGS Q05932 VAR_059305 p.Ile22Val LB/B rs10760502 - FPGS Q05932 VAR_066016 p.Phe13Leu LB/B rs1034635821 - FPGS Q05932 VAR_066017 p.Arg466Cys LB/B rs35789560 - FPGS Q05932 VAR_066018 p.Ser499Phe LB/B rs200314440 - FPGT O14772 VAR_061650 p.Pro461Leu LB/B rs55882158 - FPR1 P21462 VAR_003476 p.Val101Leu LB/B rs2070745 - FPR1 P21462 VAR_003477 p.Asn192Lys LB/B rs1042229 - FPR1 P21462 VAR_003478 p.Glu346Ala LB/B rs867228 - FPR1 P21462 VAR_055915 p.Ile11Thr LB/B rs5030878 - FPR1 P21462 VAR_055916 p.Arg190Trp LB/B rs5030880 - FRA10AC1 Q70Z53 VAR_023237 p.Arg16His LB/B rs726817 - FRA10AC1 Q70Z53 VAR_023238 p.Thr78Arg LB/B rs2275438 - FRA10AC1 Q70Z53 VAR_056872 p.Ser251Phe LB/B rs11187583 - FRAS1 Q86XX4 VAR_055807 p.Asp54His LB/B rs17003071 - FRAS1 Q86XX4 VAR_055808 p.Pro209Ser LB/B rs7699637 - FRAS1 Q86XX4 VAR_055809 p.Tyr228His LB/B rs7682296 - FRAS1 Q86XX4 VAR_055810 p.Ile243Val LB/B rs6848030 - FRAS1 Q86XX4 VAR_055811 p.Ser429Tyr LB/B rs6838959 - FRAS1 Q86XX4 VAR_055812 p.Leu466Ile LB/B rs12504081 - FRAS1 Q86XX4 VAR_055813 p.Met590Thr LB/B rs35030041 - FRAS1 Q86XX4 VAR_055814 p.Ala817Val LB/B rs6835769 - FRAS1 Q86XX4 VAR_055815 p.Thr954Met LB/B rs17003166 - FRAS1 Q86XX4 VAR_055816 p.Gly1023Glu LB/B rs17459809 - FRAS1 Q86XX4 VAR_055817 p.Glu1136Lys LB/B rs12512164 - FRAS1 Q86XX4 VAR_055818 p.Ala1626Val LB/B rs17003213 - FRAS1 Q86XX4 VAR_069150 p.Asp32Gly LB/B rs4859905 - FRAS1 Q86XX4 VAR_069151 p.Asp687Gly LB/B rs345513 - FRAS1 Q86XX4 VAR_069152 p.Ile710Leu LB/B rs345512 - FRAS1 Q86XX4 VAR_069153 p.Asp2545Asn LB/B rs4388111 - FREM1 Q5H8C1 VAR_047317 p.Val439Leu LB/B rs2779500 - FREM1 Q5H8C1 VAR_047318 p.Ile499Val LB/B rs1353223 - FREM1 Q5H8C1 VAR_047319 p.Ser803Tyr LB/B rs7023244 - FREM1 Q5H8C1 VAR_047320 p.Leu863Val LB/B rs7041710 - FREM1 Q5H8C1 VAR_047321 p.Ser1202Arg LB/B rs16932300 - FREM1 Q5H8C1 VAR_047322 p.Asp1273Glu LB/B rs7025814 - FREM1 Q5H8C1 VAR_047323 p.Val1502Met LB/B rs10961700 - FREM1 Q5H8C1 VAR_047324 p.Asn1576Ile LB/B rs2101770 - FREM1 Q5H8C1 VAR_047325 p.Gln2143Pro LB/B rs10961689 - FREM1 Q5H8C1 VAR_047326 p.Val2174Gly LB/B rs17856912 - FREM1 Q5H8C1 VAR_063422 p.Arg649Trp LP/P rs121912609 Bifid nose, with or without anorectal and renal anomalies (BNAR) [MIM:608980] FREM1 Q5H8C1 VAR_063423 p.Gly1440Ser LP/P rs121912610 Bifid nose, with or without anorectal and renal anomalies (BNAR) [MIM:608980] FREM1 Q5H8C1 VAR_066412 p.Leu1324Arg LP/P rs281875281 Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450] FREM1 Q5H8C1 VAR_066413 p.Val2091Ile LP/P rs281875282 Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450] FREM1 Q5H8C1 VAR_067916 p.Arg498Gln LP/P rs184394424 Trigonocephaly 2 (TRIGNO2) [MIM:614485] FREM1 Q5H8C1 VAR_067917 p.Glu1500Val LP/P rs281875280 Trigonocephaly 2 (TRIGNO2) [MIM:614485] FREM1 Q5H8C1 VAR_078339 p.Asp102Gly US rs1338652795 Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450] FREM2 Q5SZK8 VAR_023201 p.Glu1972Lys LP/P rs121434356 Fraser syndrome 2 (FRASRS2) [MIM:617666] FREM2 Q5SZK8 VAR_023202 p.Arg2066Cys LB/B rs9548505 - FREM2 Q5SZK8 VAR_023203 p.Thr2153Ser LB/B rs9548506 - FREM2 Q5SZK8 VAR_023204 p.Thr2326Ile LB/B rs9548509 - FREM2 Q5SZK8 VAR_033933 p.Val770Met LB/B rs7327915 - FREM2 Q5SZK8 VAR_033934 p.Leu868Val LB/B rs7329939 - FREM2 Q5SZK8 VAR_033935 p.Met1039Lys LB/B rs2496424 - FREM2 Q5SZK8 VAR_033936 p.Phe1070Ser LB/B rs2496425 - FREM2 Q5SZK8 VAR_033937 p.Arg1840Trp LB/B rs9603422 - FREM2 Q5SZK8 VAR_037569 p.Ile1045Ser LB/B rs17058433 - FREM2 Q5SZK8 VAR_037570 p.Arg1668His LB/B rs1868463 - FREM2 Q5SZK8 VAR_037571 p.Ala2962Val LB/B rs7996253 - FREM2 Q5SZK8 VAR_061174 p.Arg722Lys LB/B rs58363253 - FREM2 Q5SZK8 VAR_061175 p.Pro745Ser LB/B rs2496423 - FREM2 Q5SZK8 VAR_082584 p.Arg2167Trp LP/P rs114837786 Cryptophthalmos, unilateral or bilateral, isolated (CRYPTOP) [MIM:123570] FREM2 Q5SZK8 VAR_082584 p.Arg2167Trp LP/P rs114837786 Fraser syndrome 2 (FRASRS2) [MIM:617666] FREM3 P0C091 VAR_055819 p.Asp412Asn LB/B rs4478130 - FREM3 P0C091 VAR_059291 p.Asp417Asn LB/B rs184496 - FREY1 C9JXX5 VAR_063154 p.Gln80His LB/B rs2271849 - FRG1 Q14331 VAR_049105 p.Thr19Ala LB/B rs17797703 - FRG2C A6NGY1 VAR_060156 p.Cys12Arg LB/B rs13073018 - FRG2C A6NGY1 VAR_060157 p.Leu210Met LB/B rs13096122 - FRK P42685 VAR_006283 p.Gly122Arg LB/B rs3756772 - FRK P42685 VAR_041702 p.Ile100Val LB/B rs34704018 - FRK P42685 VAR_041703 p.Ser133Leu LB/B rs34064900 - FRMD1 Q8N878 VAR_027099 p.Arg274Cys LB/B rs902393 - FRMD1 Q8N878 VAR_027100 p.Gln456Glu LB/B rs1548349 - FRMD3 A2A2Y4 VAR_048366 p.Asp485Tyr LB/B rs4877747 - FRMD4A Q9P2Q2 VAR_048367 p.Gln242His LB/B rs11258565 - FRMD5 Q7Z6J6 VAR_087746 p.Phe114Leu US - Neurodevelopmental disorder with eye movement abnormalities and ataxia (NEDEMA) [MIM:620094] FRMD5 Q7Z6J6 VAR_087747 p.Ser349Arg US - Neurodevelopmental disorder with eye movement abnormalities and ataxia (NEDEMA) [MIM:620094] FRMD5 Q7Z6J6 VAR_087748 p.Ser351Gly LP/P - Neurodevelopmental disorder with eye movement abnormalities and ataxia (NEDEMA) [MIM:620094] FRMD5 Q7Z6J6 VAR_087749 p.Ser351Arg LP/P - Neurodevelopmental disorder with eye movement abnormalities and ataxia (NEDEMA) [MIM:620094] FRMD5 Q7Z6J6 VAR_087750 p.Cys352Arg LP/P - Neurodevelopmental disorder with eye movement abnormalities and ataxia (NEDEMA) [MIM:620094] FRMD5 Q7Z6J6 VAR_087751 p.Ser354Pro US - Neurodevelopmental disorder with eye movement abnormalities and ataxia (NEDEMA) [MIM:620094] FRMD5 Q7Z6J6 VAR_087752 p.Tyr546Cys US rs1006096376 Neurodevelopmental disorder with eye movement abnormalities and ataxia (NEDEMA) [MIM:620094] FRMD6-AS1 P0C7T7 VAR_044499 p.Gly115Arg LB/B rs11845396 - FRMD7 Q6ZUT3 VAR_028951 p.Gly24Glu LP/P - Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028952 p.Gly24Arg LP/P rs137852210 Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028953 p.Leu142Arg LP/P rs137852211 Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028954 p.Asn221Asp LP/P - Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028955 p.Ala226Thr LP/P - Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028956 p.Leu231Val LP/P rs387906720 Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028957 p.Ala266Pro LP/P - Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028958 p.Cys271Tyr LP/P rs387906721 Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028959 p.Ser281Leu LB/B rs5977625 - FRMD7 Q6ZUT3 VAR_028960 p.Tyr301Cys LP/P rs1297486092 Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028961 p.Ser340Leu LP/P - Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028962 p.Arg468His LB/B rs6637934 - FRMD7 Q6ZUT3 VAR_062651 p.Gly24Trp LP/P - Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062652 p.Arg146Trp LP/P rs780995406 Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062653 p.Trp225Gly LP/P - Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062654 p.Arg229Cys LP/P rs137852212 Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062655 p.Arg229Gly LP/P rs137852212 Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062656 p.Arg261Gly LP/P - Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062657 p.Arg261Gln LP/P rs1332489637 Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062658 p.Cys271Phe LP/P rs387906721 Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062659 p.His275Pro LP/P - Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062660 p.Gly296Arg LP/P rs1927846857 Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_072102 p.Phe16Ser LP/P - Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_072103 p.His208Arg LP/P - Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_072104 p.Leu212Pro LP/P - Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_072105 p.Cys271Ser LP/P - Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_072106 p.Gln306Arg LP/P - Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700] FRMPD1 Q5SYB0 VAR_035306 p.Thr6Pro LB/B rs3747539 - FRMPD1 Q5SYB0 VAR_035307 p.Ala44Thr LB/B rs2296556 - FRMPD1 Q5SYB0 VAR_035308 p.Thr50Asn LB/B rs7031966 - FRMPD1 Q5SYB0 VAR_035309 p.Ala225Val LB/B rs1359590 - FRMPD1 Q5SYB0 VAR_035310 p.Tyr846Asp LB/B rs34233395 - FRMPD1 Q5SYB0 VAR_035311 p.Gly1092Glu LB/B rs35075933 - FRMPD1 Q5SYB0 VAR_035445 p.Gly572Asp US - A breast cancer sample FRMPD2 Q68DX3 VAR_035446 p.Arg727Trp US rs115907611 A colorectal cancer sample FRMPD2 Q68DX3 VAR_055540 p.Ala20Thr LB/B rs11101272 - FRMPD2 Q68DX3 VAR_055541 p.Lys534Glu LB/B rs1864345 - FRMPD2 Q68DX3 VAR_061034 p.Thr239Met LB/B rs55802136 - FRMPD2 Q68DX3 VAR_065253 p.Thr1021Lys LB/B rs1898784 - FRMPD2 Q68DX3 VAR_072402 p.Gly351Arg LB/B rs116143480 - FRMPD4 Q14CM0 VAR_077481 p.Cys553Arg LP/P rs886038209 Intellectual developmental disorder, X-linked 104 (XLID104) [MIM:300983] FRS2 Q8WU20 VAR_046966 p.Lys303Asn LB/B rs12580717 - FRS2 Q8WU20 VAR_046967 p.Asn449Asp LB/B rs35232109 - FRS3 O43559 VAR_033855 p.Pro221Leu LB/B rs3747747 - FRY Q5TBA9 VAR_053831 p.Gly1968Ser LB/B rs2806639 - FRYL O94915 VAR_053832 p.Ile1878Val LB/B rs7670111 - FRYL O94915 VAR_066994 p.Pro890Ser LB/B rs376571442 - FRZB Q92765 VAR_014862 p.Arg324Gly LP/P rs7775 Osteoarthritis 1 (OS1) [MIM:165720] FRZB Q92765 VAR_021411 p.Arg200Trp LB/B rs288326 - FSBP O95073 VAR_019301 p.Arg226Lys LB/B rs3136422 - FSCB Q5H9T9 VAR_035678 p.Thr262Arg US - A breast cancer sample FSCB Q5H9T9 VAR_035679 p.Gln764Lys US - A breast cancer sample FSCB Q5H9T9 VAR_035680 p.Ser775Leu US rs201017166 A breast cancer sample FSCB Q5H9T9 VAR_056874 p.Pro119Ser LB/B rs36083807 - FSCB Q5H9T9 VAR_056875 p.His195Gln LB/B rs3809429 - FSCB Q5H9T9 VAR_056876 p.Leu380Pro LB/B rs3825630 - FSCB Q5H9T9 VAR_056877 p.Pro409Ser LB/B rs1959379 - FSCB Q5H9T9 VAR_056878 p.Asp423Glu LB/B rs3825632 - FSCB Q5H9T9 VAR_056879 p.Ala642Thr LB/B rs8009274 - FSCN3 Q9NQT6 VAR_022021 p.Ala24Ser LB/B rs3779536 - FSCN3 Q9NQT6 VAR_033939 p.His428Leu LB/B rs34394613 - FSD1 Q9BTV5 VAR_038385 p.Leu232Val LB/B rs35139245 - FSD2 A1L4K1 VAR_051001 p.Lys333Thr LB/B rs4779061 - FSD2 A1L4K1 VAR_051002 p.Glu720Lys LB/B rs1108134 - FSHB P01225 VAR_012047 p.Ser20Ile LB/B rs6170 - FSHB P01225 VAR_033015 p.Cys69Gly LP/P rs5030776 Hypogonadotropic hypogonadism 24 with or without anosmia (HH24) [MIM:229070] FSHR P23945 VAR_013903 p.Ala307Thr LB/B rs6165 - FSHR P23945 VAR_013904 p.Ser524Arg LB/B rs6167 - FSHR P23945 VAR_013905 p.Asn680Ser LB/B rs6166 - FSHR P23945 VAR_017244 p.Thr449Ile LP/P rs28928870 Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] FSHR P23945 VAR_017245 p.Asp567Asn LP/P rs28928871 Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] FSHR P23945 VAR_018045 p.Ile160Thr LP/P - Ovarian dysgenesis 1 (ODG1) [MIM:233300] FSHR P23945 VAR_018046 p.Ala189Val LP/P - Ovarian dysgenesis 1 (ODG1) [MIM:233300] FSHR P23945 VAR_018047 p.Ala419Thr LP/P - Ovarian dysgenesis 1 (ODG1) [MIM:233300] FSHR P23945 VAR_018048 p.Arg573Cys LP/P - Ovarian dysgenesis 1 (ODG1) [MIM:233300] FSHR P23945 VAR_018049 p.Phe591Ser US - Ovarian sex cord tumor FSHR P23945 VAR_039279 p.Ser128Tyr LP/P rs121909665 Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] FSHR P23945 VAR_039280 p.Asp224Val LP/P - Ovarian dysgenesis 1 (ODG1) [MIM:233300] FSHR P23945 VAR_039281 p.Pro348Arg LP/P - Ovarian dysgenesis 1 (ODG1) [MIM:233300] FSHR P23945 VAR_039282 p.Thr449Ala LP/P - Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] FSHR P23945 VAR_039283 p.Pro519Thr LP/P - Ovarian dysgenesis 1 (ODG1) [MIM:233300] FSHR P23945 VAR_039284 p.Ile545Thr LP/P - Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] FSHR P23945 VAR_039285 p.Asp567Gly US - - FSHR P23945 VAR_039286 p.Leu601Val LP/P - Ovarian dysgenesis 1 (ODG1) [MIM:233300] FSHR P23945 VAR_074535 p.Met512Ile LP/P - Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] FSHR P23945 VAR_074536 p.Val514Ala LP/P - Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] FSHR P23945 VAR_074537 p.Ala575Val LP/P - Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] FSIP1 Q8NA03 VAR_038124 p.Asn64Asp LB/B rs1166719 - FSIP1 Q8NA03 VAR_038125 p.Arg354His LB/B rs937961 - FSIP1 Q8NA03 VAR_038126 p.Glu374Gly LB/B rs16969673 - FSIP1 Q8NA03 VAR_038127 p.Cys402Arg LB/B rs10152640 - FSIP1 Q8NA03 VAR_038128 p.Leu411Phe LB/B rs12908846 - FSIP1 Q8NA03 VAR_038129 p.Gly528Ala LB/B rs16969386 - FSIP2 Q5CZC0 VAR_042938 p.Met306Val LB/B rs9808218 - FSIP2 Q5CZC0 VAR_075707 p.Leu700Phe LB/B - - FSIP2 Q5CZC0 VAR_075708 p.Pro2764Thr LB/B rs201794247 - FST P19883 VAR_049091 p.Glu152Gln LB/B rs11745088 - FST P19883 VAR_085164 p.Cys56Tyr US - - FSTL4 Q6MZW2 VAR_027727 p.Arg158His LB/B rs17683306 - FSTL4 Q6MZW2 VAR_027728 p.Thr757Met LB/B rs3749817 - FSTL5 Q8N475 VAR_036135 p.Leu92Ile US rs747628234 A colorectal cancer sample FSTL5 Q8N475 VAR_049092 p.Asp711Tyr LB/B rs3749598 - FSTL5 Q8N475 VAR_049093 p.Lys815Glu LB/B rs17040982 - FTCD O95954 VAR_015887 p.Arg135Cys LP/P rs28941768 Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100] FTCD O95954 VAR_015888 p.Arg299Pro LP/P rs119469015 Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100] FTCD O95954 VAR_015889 p.Ala438Glu LB/B - - FTH1P19 P0C7X4 VAR_045633 p.Arg17His LB/B rs7058438 - FTH1P19 P0C7X4 VAR_045634 p.Ala106Pro LB/B rs7055365 - FTHL17 Q9BXU8 VAR_033929 p.Gln120His LB/B rs16989319 - FTHL17 Q9BXU8 VAR_049060 p.Tyr138His LB/B rs17340519 - FTL P02792 VAR_026633 p.Ala96Thr LP/P rs104894685 Neurodegeneration with brain iron accumulation 3 (NBIA3) [MIM:606159] FTL P02792 VAR_070948 p.Thr30Ile LP/P rs397514540 Hyperferritinemia with or without cataract (HRFTC) [MIM:600886] FTO Q9C0B1 VAR_032078 p.Ala405Val LB/B rs16952624 - FTO Q9C0B1 VAR_063252 p.Arg316Gln LP/P rs121918214 Growth retardation, developmental delay, and facial dysmorphism (GDFD) [MIM:612938] FTO Q9C0B1 VAR_075468 p.Ser319Phe LP/P rs781028867 Growth retardation, developmental delay, and facial dysmorphism (GDFD) [MIM:612938] FTO Q9C0B1 VAR_075469 p.Arg322Gln LP/P rs745616565 Growth retardation, developmental delay, and facial dysmorphism (GDFD) [MIM:612938] FTO Q9C0B1 VAR_076423 p.His271Pro US - - FTSJ1 Q9UET6 VAR_088175 p.Ala26Pro LP/P - Intellectual developmental disorder, X-linked 9 (XLID9) [MIM:309549] FTSJ3 Q8IY81 VAR_023284 p.Gln91Glu LB/B rs2584625 - FTSJ3 Q8IY81 VAR_023285 p.Ser424Cys LB/B rs2727288 - FUBP1 Q96AE4 VAR_049679 p.Ile399Lys LB/B rs12748509 - FUCA1 P04066 VAR_002442 p.Gly65Asp LP/P rs1353778985 Fucosidosis (FUCA1D) [MIM:230000] FUCA1 P04066 VAR_002443 p.Ser68Leu LP/P - Fucosidosis (FUCA1D) [MIM:230000] FUCA1 P04066 VAR_002444 p.Gln286Arg LB/B rs13551 - FUCA1 P04066 VAR_016233 p.Pro10Arg LB/B rs2070956 - FUCA1 P04066 VAR_016234 p.Cys269Ser LB/B rs1126512 - FUCA1 P04066 VAR_016235 p.Leu410Arg LP/P rs80358199 Fucosidosis (FUCA1D) [MIM:230000] FUCA1 P04066 VAR_049106 p.Arg2Trp LB/B rs2070955 - FUCA1 P04066 VAR_049107 p.Pro146Leu LB/B rs2228424 - FUCA1 P04066 VAR_049108 p.Val260Ile LB/B rs665 - FUCA2 Q9BTY2 VAR_022444 p.Met356Val LB/B rs3762002 - FUCA2 Q9BTY2 VAR_022445 p.His371Tyr LB/B rs3762001 - FUCA2 Q9BTY2 VAR_055822 p.Ala233Glu LB/B rs11155297 - FUNDC1 Q8IVP5 VAR_074638 p.Met56Val LB/B rs189499062 - FURIN P09958 VAR_051821 p.Ala43Val LB/B rs16944971 - FURIN P09958 VAR_055343 p.Trp547Arg US - - FURIN P09958 VAR_084542 p.Gly146Ser LB/B - - FURIN P09958 VAR_084543 p.Arg298Gln LB/B - - FURIN P09958 VAR_084544 p.Ile636Val LB/B - - FUS P35637 VAR_035481 p.Lys312Gln US - A breast cancer sample FUS P35637 VAR_054837 p.Arg244Cys LP/P rs1165095258 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_054838 p.Arg514Gly LP/P rs1555509609 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_054839 p.Arg514Ser LP/P - Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_054840 p.Gly515Cys LP/P rs369757630 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_054841 p.His517Gln LB/B rs121909667 - FUS P35637 VAR_054842 p.Arg518Lys LP/P rs121909669 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_054843 p.Arg521Cys LP/P rs121909668 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_054844 p.Arg521Gly LP/P rs121909668 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_054845 p.Arg521His LP/P rs121909671 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_054846 p.Arg522Gly LP/P rs1555509693 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_054847 p.Arg524Ser LP/P rs886041389 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_054848 p.Arg524Thr LP/P rs544088874 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_054849 p.Pro525Leu LP/P rs886041390 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_065229 p.Met254Val LB/B rs752076094 - FUS P35637 VAR_068918 p.Gly191Ser LP/P rs148758737 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_068919 p.Arg216Cys LP/P rs267606832 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_068919 p.Arg216Cys LP/P rs267606832 Tremor, hereditary essential 4 (ETM4) [MIM:614782] FUS P35637 VAR_068920 p.Gly225Val LP/P rs1567472455 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_068921 p.Gly230Cys LP/P rs748374535 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_068922 p.Arg234Cys LP/P rs777819849 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS P35637 VAR_068923 p.Pro431Leu LP/P rs186547381 Tremor, hereditary essential 4 (ETM4) [MIM:614782] FUS P35637 VAR_068924 p.Gly507Asp LP/P rs267606831 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUT1 P19526 VAR_003417 p.Tyr154Cys US - - FUT1 P19526 VAR_003418 p.Trp171Cys US - - FUT1 P19526 VAR_003419 p.Val259Glu US - - FUT1 P19526 VAR_003420 p.Ala315Val US - - FUT1 P19526 VAR_003421 p.Trp349Cys LB/B rs1438752561 - FUT1 P19526 VAR_009708 p.Leu164His LB/B rs104894687 - FUT1 P19526 VAR_009709 p.Leu242Arg LB/B rs28934588 - FUT1 P19526 VAR_020536 p.Asp148Tyr LB/B rs747442925 - FUT1 P19526 VAR_020537 p.Tyr154His LB/B rs757349699 - FUT1 P19526 VAR_020538 p.Tyr241His LB/B rs765114567 - FUT1 P19526 VAR_020539 p.Glu348Lys LB/B rs764739319 - FUT1 P19526 VAR_022268 p.Ala12Val LB/B rs2071699 - FUT10 Q6P4F1 VAR_034759 p.Leu59Phe LB/B rs16880994 - FUT10 Q6P4F1 VAR_034760 p.Tyr268His LB/B rs16880853 - FUT10 Q6P4F1 VAR_034761 p.Leu368Val LB/B rs17855838 - FUT10 Q6P4F1 VAR_034762 p.Arg371Pro LB/B rs17855839 - FUT11 Q495W5 VAR_034763 p.Ser51Ala LB/B rs17853514 - FUT2 Q10981 VAR_003422 p.Ile25Val LB/B rs1800021 - FUT2 Q10981 VAR_003423 p.Arg138Cys LB/B rs1800022 - FUT2 Q10981 VAR_003424 p.Ile140Phe LB/B rs1047781 - FUT2 Q10981 VAR_003425 p.Asp172Asn LB/B rs1800025 - FUT2 Q10981 VAR_022187 p.Gly258Ser LB/B rs602662 - FUT3 P21217 VAR_003426 p.Leu20Arg LB/B rs28362459 - FUT3 P21217 VAR_003427 p.Met105Thr LB/B rs778986 - FUT3 P21217 VAR_003428 p.Gly170Ser LB/B rs3745635 - FUT3 P21217 VAR_003429 p.Asp336Ala LB/B rs151218854 - FUT3 P21217 VAR_003430 p.Ile356Lys LB/B rs3894326 - FUT3 P21217 VAR_007959 p.Arg68Trp LB/B rs812936 - FUT3 P21217 VAR_007960 p.Gln102Lys LB/B rs59796499 - FUT3 P21217 VAR_007961 p.Ser124Ala LB/B rs1175404919 - FUT3 P21217 VAR_007962 p.Asp162Asn LB/B rs28362463 - FUT3 P21217 VAR_007963 p.Gly223Arg LB/B rs28362466 - FUT3 P21217 VAR_007964 p.Val270Met LB/B rs28381968 - FUT3 P21217 VAR_022200 p.Gly5Ser LB/B rs28362458 - FUT3 P21217 VAR_022201 p.Arg160Cys LB/B rs28362462 - FUT3 P21217 VAR_022202 p.Thr325Met LB/B rs28381969 - FUT3 P21217 VAR_022203 p.Arg327Gln LB/B rs28381970 - FUT4 P22083 VAR_055844 p.Ile255Val LB/B rs2230273 - FUT5 Q11128 VAR_022122 p.Pro187Leu LB/B rs778970 - FUT5 Q11128 VAR_055845 p.Thr338Met LB/B rs4807054 - FUT6 P51993 VAR_024463 p.Pro124Ser LB/B rs778805 - FUT6 P51993 VAR_024464 p.Gln230Lys LB/B rs364637 - FUT6 P51993 VAR_065915 p.Leu244Val US - - FUT6 P51993 VAR_065916 p.Glu247Lys LB/B rs17855739 - FUT6 P51993 VAR_065917 p.Arg303Gly LB/B rs61147939 - FUT7 Q11130 VAR_079131 p.Arg110Gln LB/B rs545570871 - FUT8 Q9BYC5 VAR_033537 p.Thr267Lys LB/B rs35949016 - FUT8 Q9BYC5 VAR_054038 p.Lys101Gln LB/B rs2229678 - FUT8 Q9BYC5 VAR_080980 p.Arg337Gly LP/P - Congenital disorder of glycosylation with defective fucosylation 1 (CDGF1) [MIM:618005] FUT9 Q9Y231 VAR_024465 p.Thr237Ala LB/B rs3811069 - FUT9 Q9Y231 VAR_030575 p.Trp358Gly LB/B rs9986564 - FUZ Q9BT04 VAR_037615 p.Ala34Ser LB/B rs35138412 - FUZ Q9BT04 VAR_037616 p.Gly175Asp LB/B rs35002951 - FUZ Q9BT04 VAR_037617 p.Thr400Ile LB/B rs12610577 - FXN Q16595 VAR_002428 p.Asp122Tyr LP/P rs142157346 Friedreich ataxia (FRDA) [MIM:229300] FXN Q16595 VAR_002429 p.Gly130Val LP/P rs104894107 Friedreich ataxia (FRDA) [MIM:229300] FXN Q16595 VAR_008140 p.Leu182Phe LP/P rs139616452 Friedreich ataxia (FRDA) [MIM:229300] FXN Q16595 VAR_016065 p.Leu106Ser LP/P rs104894105 Friedreich ataxia (FRDA) [MIM:229300] FXN Q16595 VAR_016066 p.Leu198Arg LP/P rs144104124 Friedreich ataxia (FRDA) [MIM:229300] FXN Q16595 VAR_049100 p.Ser202Cys LB/B rs1052195 - FXN Q16595 VAR_087120 p.Ile154Phe LP/P rs104894106 Friedreich ataxia (FRDA) [MIM:229300] FXN Q16595 VAR_087121 p.Trp155Arg LP/P rs138471431 Friedreich ataxia (FRDA) [MIM:229300] FXN Q16595 VAR_087122 p.Arg165Cys LP/P rs138034837 Friedreich ataxia (FRDA) [MIM:229300] FXR1 P51114 VAR_014890 p.Ala614Val LB/B rs11499 - FXR1 P51114 VAR_016077 p.Asp429Asn LB/B rs1051080 - FXR1 P51114 VAR_036050 p.Ala233Thr US - A breast cancer sample FXR2 P51116 VAR_055979 p.Arg591Pro LB/B rs36013555 - FXR2 P51116 VAR_067039 p.Gln252His LB/B rs17854734 - FXYD2 P54710 VAR_013280 p.Gly41Arg LP/P rs28938168 Hypomagnesemia 2 (HOMG2) [MIM:154020] FXYD3 Q14802 VAR_049109 p.Gly40Ser LB/B rs35578165 - FXYD5 Q96DB9 VAR_012349 p.Ser35Ala LB/B rs1688005 - FXYD5 Q96DB9 VAR_027959 p.Arg176His LB/B rs12110 - FYB1 O15117 VAR_056880 p.Pro51Leu LB/B rs1642515 - FYB1 O15117 VAR_056881 p.Lys332Arg LB/B rs3749741 - FYB1 O15117 VAR_060592 p.Val672Phe LB/B rs379707 - FYB2 Q5VWT5 VAR_035041 p.Ile125Met LB/B rs17114336 - FYCO1 Q9BQS8 VAR_027006 p.Arg250Gln LB/B rs4683158 - FYCO1 Q9BQS8 VAR_027007 p.Arg282His LB/B rs9875356 - FYCO1 Q9BQS8 VAR_027008 p.Gly321Ala LB/B rs3733100 - FYCO1 Q9BQS8 VAR_027009 p.Thr381Met LB/B rs3733101 - FYCO1 Q9BQS8 VAR_027010 p.Ala679Val LB/B rs3796375 - FYCO1 Q9BQS8 VAR_027011 p.Asn1001Asp LB/B rs13059238 - FYCO1 Q9BQS8 VAR_056882 p.Arg447Cys LB/B rs33910087 - FYCO1 Q9BQS8 VAR_056883 p.Glu994Lys LB/B rs34801630 - FYCO1 Q9BQS8 VAR_065974 p.Leu1376Pro LP/P rs387906965 Cataract 18 (CTRCT18) [MIM:610019] FYN P06241 VAR_014661 p.Ile445Phe LB/B rs1801121 - FYN P06241 VAR_041704 p.Val243Leu US - A lung squamous cell carcinoma sample FYN P06241 VAR_041705 p.Gly410Arg US - A metastatic melanoma sample FYN P06241 VAR_041706 p.Asp506Glu LB/B rs28763975 - FYTTD1 Q96QD9 VAR_062411 p.Arg87His LB/B rs3205525 - FZD1 Q9UP38 VAR_049290 p.Val343Met LB/B rs3750146 - FZD2 Q14332 VAR_081993 p.Gly434Val LP/P rs1555657073 Omodysplasia 2 (OMOD2) [MIM:164745] FZD2 Q14332 VAR_083242 p.Pro142Leu US rs759024435 - FZD2 Q14332 VAR_083244 p.Gly434Ser LB/B rs1223920489 - FZD3 Q9NPG1 VAR_066960 p.Thr4Ser LB/B rs140115204 - FZD3 Q9NPG1 VAR_066961 p.Leu199Met LB/B rs757589666 - FZD3 Q9NPG1 VAR_066962 p.Ile545Val LB/B rs199839949 - FZD4 Q9ULV1 VAR_036413 p.Lys436Thr US - A colorectal cancer sample FZD4 Q9ULV1 VAR_038947 p.Met105Val LP/P rs80358284 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_038948 p.Met157Val LP/P rs80358286 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063920 p.Pro33Ser LP/P rs61735304 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063921 p.Gly36Asp LP/P rs80358281 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063922 p.Glu40Gln LP/P rs139401671 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063923 p.His69Tyr LP/P rs80358282 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063924 p.Met105Thr LP/P rs80358285 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063925 p.Ile114Thr LP/P - Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063926 p.Pro168Ser LB/B rs61735303 - FZD4 Q9ULV1 VAR_063927 p.Cys181Arg LP/P rs80358287 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063928 p.Lys203Asn LB/B rs1476724511 - FZD4 Q9ULV1 VAR_063929 p.Cys204Arg LP/P rs80358288 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063930 p.Cys204Tyr LP/P rs1064794064 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063931 p.Met223Lys LP/P - Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063932 p.Ile256Val LP/P rs104894223 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063933 p.Trp335Cys LP/P rs80358292 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063934 p.Met342Val LP/P rs80358293 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063935 p.Ala370Gly US - - FZD4 Q9ULV1 VAR_063936 p.Arg417Gln LP/P rs80358294 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063937 p.Thr445Pro LP/P rs80358297 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063938 p.Gly488Asp LP/P rs80358298 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063939 p.Ser497Phe LP/P rs80358300 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063940 p.Gly525Arg LP/P - Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD5 Q13467 VAR_049291 p.Pro216Leu LB/B rs35994626 - FZD6 O60353 VAR_047440 p.Met33Val LB/B rs827528 - FZD6 O60353 VAR_047441 p.Met345Leu LB/B rs3808553 - FZD6 O60353 VAR_047442 p.Ala664Glu LB/B rs12549394 - FZD6 O60353 VAR_066398 p.Arg511Cys LP/P rs151339003 Nail disorder, non-syndromic congenital, 1 (NDNC1) [MIM:161050] FZD6 O60353 VAR_066963 p.His140Tyr LB/B rs80216383 - FZD6 O60353 VAR_066964 p.Gln152Glu LB/B rs61753730 - FZD6 O60353 VAR_066965 p.Ala388Asp LB/B rs142694816 - FZD6 O60353 VAR_066966 p.Arg405Gln LB/B rs150760762 - FZD6 O60353 VAR_066967 p.Arg511His LB/B rs767273753 - FZD6 O60353 VAR_066968 p.Gly604Arg LB/B rs79408516 - FZD6 O60353 VAR_066969 p.Ser620Thr LB/B rs116195528 - FZD7 O75084 VAR_033024 p.Gly24Ser LB/B rs755615030 - FZD7 O75084 VAR_033941 p.Gly196Glu LB/B rs34908164 - FZD7 O75084 VAR_033942 p.Ala487Val LB/B rs35600847 - FZD7 O75084 VAR_049292 p.Gly24Asp LB/B rs35111363 - FZR1 Q9UM11 VAR_087872 p.Asp187Gly LP/P - Developmental and epileptic encephalopathy 109 (DEE109) [MIM:620145] FZR1 Q9UM11 VAR_087873 p.Asp187Asn LP/P - Developmental and epileptic encephalopathy 109 (DEE109) [MIM:620145] FZR1 Q9UM11 VAR_087874 p.Asn333Lys LP/P - Developmental and epileptic encephalopathy 109 (DEE109) [MIM:620145] G2E3 Q7L622 VAR_027273 p.Arg232His LB/B rs17096934 - G3BP2 Q9UN86 VAR_036128 p.Pro434Leu US - A breast cancer sample G6PC1 P35575 VAR_005237 p.Asp38Val LP/P rs104894565 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_005238 p.Trp77Arg LP/P rs104894566 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_005239 p.Arg83Cys LP/P rs1801175 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_005240 p.Arg83His LP/P rs1801176 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_005241 p.Arg83Ile LP/P - Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_005242 p.Glu110Lys LP/P rs104894567 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_005243 p.Ala124Thr LP/P rs104894568 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_005244 p.Val166Gly LP/P rs104894571 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_005245 p.Gly184Glu LP/P rs104894569 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_005246 p.Gly188Arg LP/P rs80356482 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_005247 p.Leu211Pro LP/P - Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_005248 p.Gly222Arg LP/P rs1410392732 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_005249 p.Gly266Val LP/P - Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_005250 p.Gly270Val LP/P rs80356483 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_005251 p.Arg295Cys LP/P rs104894563 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_005253 p.Val338Phe LP/P rs367727229 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_005254 p.Ile341Asn LP/P rs387906505 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_009202 p.Gln20Arg LP/P rs2056021410 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_009203 p.Gln54Pro LP/P rs1057517008 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_009204 p.Gly81Arg LP/P rs756632286 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_009205 p.Thr108Ile LP/P rs1597988331 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_009206 p.Trp156Leu LP/P rs1189630738 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_009207 p.Gly188Asp LP/P rs760981149 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_035922 p.Pro116Leu US - A breast cancer sample G6PC1 P35575 VAR_046249 p.Met5Arg LP/P rs1250172816 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046250 p.Thr16Ala LP/P rs761839506 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046251 p.Thr16Arg LP/P rs1555558914 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046252 p.Trp63Arg LP/P - Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046253 p.Ala65Pro LP/P rs369472089 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046254 p.Gly68Arg LP/P rs1567702819 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046255 p.Lys76Asn LP/P rs2056023296 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046256 p.Thr111Ile LP/P rs1203167759 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046257 p.Pro113Leu LP/P - Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046258 p.His119Leu LP/P rs1401928680 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046259 p.Gly122Asp LP/P rs759982943 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046260 p.Val166Ala LP/P rs104894571 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046261 p.Arg170Gln LP/P rs750470654 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046262 p.Phe177Cys LP/P - Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046263 p.Pro178Ser LP/P rs763543607 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046264 p.His179Pro LP/P - Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046265 p.Gly184Val LP/P rs104894569 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046266 p.Gly188Ser LP/P rs80356482 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046268 p.Tyr209Cys LP/P rs2056091436 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046269 p.Trp236Arg LP/P rs2056092151 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046270 p.Ala241Thr LP/P - Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046271 p.Pro257Leu LP/P - Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046272 p.Asn264Lys LP/P rs1555560149 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046273 p.Leu265Pro LP/P - Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046274 p.Gly270Arg LP/P rs1272803483 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046275 p.Gly270Trp LP/P - Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046276 p.Ser298Pro LP/P rs770003650 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046277 p.Phe322Leu LP/P rs1399520060 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_046278 p.Leu345Arg LP/P - Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_065164 p.Pro178Ala LP/P rs763543607 Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC1 P35575 VAR_065165 p.Thr255Ile LP/P - Glycogen storage disease 1A (GSD1A) [MIM:232200] G6PC2 Q9NQR9 VAR_043372 p.Ile171Val LB/B rs2232322 - G6PC2 Q9NQR9 VAR_043373 p.Tyr207Ser LB/B rs2232323 - G6PC2 Q9NQR9 VAR_043374 p.Val219Leu LB/B rs492594 - G6PC2 Q9NQR9 VAR_043375 p.Ser324Pro LB/B rs2232326 - G6PC2 Q9NQR9 VAR_043376 p.Pro340Leu LB/B rs2232327 - G6PC2 Q9NQR9 VAR_043377 p.Ser342Cys LB/B rs2232328 - G6PC3 Q9BUM1 VAR_043378 p.Thr216Ile LB/B rs34406052 - G6PC3 Q9BUM1 VAR_055156 p.Leu185Pro LP/P rs118203969 Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_055157 p.Arg253His LP/P rs118203968 Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_055158 p.Gly262Arg LP/P rs118203971 Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_064508 p.Met116Lys LP/P - Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_064509 p.Met116Val LP/P rs267606834 Dursun syndrome (DURSS) [MIM:612541] G6PC3 Q9BUM1 VAR_064509 p.Met116Val LP/P rs267606834 Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_064510 p.Arg189Gln LP/P rs140294222 Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_064511 p.Gly260Arg LP/P rs200478425 Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_072753 p.Pro44Ser LP/P rs775224457 Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_072754 p.Trp59Arg LP/P rs752966267 Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_072756 p.Met116Thr LP/P - Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_072757 p.Ser139Ile LP/P - Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_072758 p.Leu154Pro LP/P - Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_072759 p.Leu208Arg LP/P - Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_072760 p.Gly260Asp LP/P - Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_072761 p.Leu325Arg LP/P - Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_073174 p.Pro44Leu LP/P rs762019955 Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_073175 p.Met116Ile LP/P rs1373865222 Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_073176 p.Thr118Arg LP/P rs766706036 Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_073177 p.Arg161Gln LP/P rs1485073209 Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_073178 p.Arg253Cys LP/P rs765927570 Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] G6PD P11413 VAR_002450 p.Val12Leu US - - G6PD P11413 VAR_002451 p.His32Arg LP/P rs137852340 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002453 p.Ala44Gly LP/P rs78478128 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002454 p.Ile48Thr LP/P rs76645461 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002455 p.Asp58Asn LP/P rs137852315 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002456 p.Val68Met LP/P rs1050828 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002457 p.Tyr70His LP/P rs137852349 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002458 p.Leu75Pro LP/P - Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002459 p.Arg81His LP/P rs782308266 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002460 p.Arg81Cys LP/P rs138687036 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002461 p.Ser106Cys LP/P rs267606835 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002462 p.Asn126Asp LB/B rs1050829 - G6PD P11413 VAR_002463 p.Leu128Pro LP/P rs78365220 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002464 p.Gly131Val LB/B rs137852341 - G6PD P11413 VAR_002465 p.Glu156Lys LP/P rs137852313 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002466 p.Gly163Ser LP/P rs137852314 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002467 p.Gly163Asp LP/P - Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002468 p.Asn165Asp LP/P rs137852331 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002469 p.Arg166His LP/P - Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002470 p.Asp176Gly LP/P - Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002471 p.Asp181Val LP/P rs5030872 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002472 p.Arg182Trp LP/P rs267606836 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002473 p.Ser188Phe LP/P rs5030868 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002474 p.Arg198Cys LB/B rs137852330 - G6PD P11413 VAR_002475 p.Arg198Pro LP/P rs137852332 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002476 p.Met212Val LP/P rs782754619 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002477 p.Val213Leu LP/P rs137852326 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002478 p.Phe216Leu LP/P rs137852319 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002479 p.Arg227Gln LB/B rs137852328 - G6PD P11413 VAR_002480 p.Arg227Leu LP/P rs137852328 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002482 p.Arg257Gly LP/P - Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002483 p.Glu274Lys LP/P - Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002484 p.Ser278Phe LP/P - Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002485 p.Thr279Ser LP/P - Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002486 p.Asp282His LP/P rs137852318 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002487 p.Arg285His LP/P rs74575103 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002488 p.Val291Met LP/P rs137852327 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002489 p.Glu317Lys LP/P rs137852339 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002490 p.Leu323Pro LP/P rs76723693 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002491 p.Ala335Thr LP/P rs5030869 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002492 p.Leu342Phe LB/B rs137852342 - G6PD P11413 VAR_002493 p.Pro353Ser LB/B rs137852333 - G6PD P11413 VAR_002494 p.Asn363Lys LP/P rs137852329 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002495 p.Cys385Arg LP/P rs137852322 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002496 p.Lys386Glu LP/P rs137852320 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002497 p.Arg387His LP/P rs137852321 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002498 p.Arg387Cys LP/P rs137852334 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002499 p.Arg393His LP/P rs137852316 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002500 p.Val394Leu LP/P rs137852335 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002501 p.Pro396Leu LP/P rs1557229683 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002502 p.Glu398Lys LP/P rs137852325 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002503 p.Gly410Cys LP/P rs137852323 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002504 p.Gly410Asp LP/P rs137852336 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002505 p.Glu416Lys LP/P - Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002506 p.Arg439Pro LP/P rs137852337 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002507 p.Leu440Phe LP/P rs1557229599 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002508 p.Gly447Arg LP/P rs137852317 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002509 p.Gln449His LP/P - Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002510 p.Arg454Cys LP/P rs398123546 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002511 p.Arg454His LP/P rs137852324 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002512 p.Arg459Leu LP/P rs72554665 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002513 p.Arg459Pro LP/P rs72554665 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_002514 p.Arg463His LB/B rs72554664 - G6PD P11413 VAR_002515 p.Gly488Val LP/P - Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_020535 p.Tyr322His LB/B rs137852347 - G6PD P11413 VAR_075555 p.Arg198Ser LP/P - Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_081894 p.Ser184Phe LB/B rs782315572 - G6PD P11413 VAR_081895 p.Arg198His LB/B rs137852332 - G6PD P11413 VAR_081896 p.Gly321Val LP/P - Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] G6PD P11413 VAR_088817 p.Arg219Gly LP/P - Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] GAA P10253 VAR_004285 p.Asp91Asn LB/B rs1800299 - GAA P10253 VAR_004286 p.His199Arg LB/B rs1042393 - GAA P10253 VAR_004287 p.Arg223His LB/B rs1042395 - GAA P10253 VAR_004288 p.Leu299Arg LP/P rs121907940 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004289 p.Met318Thr LP/P rs121907936 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004290 p.Trp402Arg LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004291 p.Gly478Arg LP/P rs778068209 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004292 p.Trp481Arg LP/P rs772883420 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004293 p.Met519Thr LP/P rs786204720 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004294 p.Met519Val LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004295 p.Glu521Lys LP/P rs121907937 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004296 p.Ser529Val LP/P rs121907941 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004297 p.Pro545Leu LP/P rs121907942 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004298 p.Ser566Pro LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004299 p.Gly576Ala LB/B - - GAA P10253 VAR_004300 p.Gly576Ser LB/B rs1800307 - GAA P10253 VAR_004301 p.Gly643Arg LP/P rs28937909 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004302 p.Asp645Glu LP/P rs28940868 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004303 p.Asp645His LP/P rs368438393 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004304 p.Asp645Asn LP/P rs368438393 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004305 p.Cys647Trp LP/P rs776948121 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004306 p.Gly648Ser LP/P rs536906561 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004307 p.Arg672Gln LP/P rs778418246 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004308 p.Arg672Trp LP/P rs757111744 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004309 p.Glu689Lys LB/B rs1800309 - GAA P10253 VAR_004310 p.Arg725Trp LP/P rs121907938 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004311 p.Trp746Cys LP/P rs1800312 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004312 p.Pro768Arg LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_004313 p.Val780Ile LB/B rs1126690 - GAA P10253 VAR_004314 p.Val816Ile LB/B rs1800314 - GAA P10253 VAR_004317 p.Thr927Ile LB/B rs1800315 - GAA P10253 VAR_004318 p.Val949Asp LP/P rs1245412108 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_008689 p.Arg600His LP/P rs377544304 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_008690 p.Gly615Arg LP/P rs549029029 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018078 p.Cys103Gly LP/P rs398123174 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018079 p.Gly219Arg LP/P rs370950728 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018080 p.Pro285Arg LP/P rs764622267 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018081 p.Tyr292Cys LP/P rs1057516600 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018082 p.Gly293Arg LP/P rs121907945 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018083 p.His308Pro LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018084 p.Gly309Arg LP/P rs543300039 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018085 p.Leu312Arg LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018086 p.Leu355Pro LP/P rs766074609 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018087 p.Cys374Arg LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018088 p.Leu405Pro LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018089 p.Tyr455Phe LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018091 p.Gly549Arg LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018092 p.Leu552Pro LP/P rs779556619 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018093 p.Tyr575Ser LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018094 p.Glu579Lys LP/P rs991082382 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018095 p.Arg600Cys LP/P rs764670084 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018096 p.Gly607Asp LP/P rs1393386120 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_018097 p.Ala880Asp LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_029025 p.Leu208Pro LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_029026 p.Arg224Trp LP/P rs757700700 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_029027 p.Ala237Val LP/P rs121907944 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_029028 p.Glu262Lys LP/P rs201896815 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_029029 p.Pro324Leu LP/P rs750030887 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_029030 p.Trp330Gly LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_029031 p.Pro361Leu LP/P rs755253527 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_029032 p.Gly377Arg LP/P rs752002666 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_029033 p.Asp404Asn LP/P rs141533320 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_029034 p.Met408Val LP/P rs560575383 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_029035 p.Arg437Cys LP/P rs770610356 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_029036 p.Ala445Pro LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_029037 p.Asp489Asn LP/P rs398123169 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_029038 p.His612Gln LP/P rs768397968 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_029039 p.Leu901Gln LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_029040 p.Pro457Leu LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_046467 p.Tyr191Cys LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_046468 p.His308Leu LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_046469 p.Arg375Leu LP/P rs142752477 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_046470 p.Gln401Arg LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_046471 p.Pro522Ala LP/P rs1057517146 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_046472 p.Arg585Met LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_046473 p.Ser599Tyr LP/P rs753505203 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_046475 p.Ser619Arg LP/P rs914396317 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_046476 p.Gly638Trp LP/P rs757617999 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_046477 p.Arg660His LP/P rs374143224 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_046478 p.Arg672Thr LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_046479 p.Arg702Cys LP/P rs786204645 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068564 p.Ser46Pro LP/P rs777215354 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068565 p.Arg74His LB/B rs764797280 - GAA P10253 VAR_068566 p.Arg89His LB/B rs200586324 - GAA P10253 VAR_068567 p.Cys103Arg LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068568 p.Cys108Gly LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068569 p.Cys127Phe LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068570 p.Arg190His LP/P rs528367092 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068571 p.Pro217Leu LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068572 p.Val220Leu LB/B rs530478036 - GAA P10253 VAR_068573 p.Val222Met LB/B rs374569672 - GAA P10253 VAR_068574 p.Arg224Pro LP/P rs200210219 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068575 p.Arg224Gln LP/P rs200210219 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068576 p.Thr234Lys LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068577 p.Thr234Arg LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068578 p.Ser251Leu LP/P rs200856561 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068579 p.Ser254Leu LP/P rs577915581 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068580 p.Pro266Ser LP/P rs1555599667 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068581 p.Thr271Ala LB/B - - GAA P10253 VAR_068582 p.Pro285Ser LP/P rs886042086 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068583 p.Asn290Asp LB/B rs552929702 - GAA P10253 VAR_068584 p.Leu291Phe LP/P rs773417785 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068585 p.Leu291Pro LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068586 p.Val310Gly US rs763091901 - GAA P10253 VAR_068587 p.Asn316Ile LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068588 p.Met318Lys LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068589 p.Gly335Glu LP/P rs730880022 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068590 p.Gly335Arg LP/P rs202095215 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068591 p.Pro347Arg LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068592 p.Gly359Arg LB/B - - GAA P10253 VAR_068593 p.Met391Val US rs778634337 - GAA P10253 VAR_068594 p.Pro397Leu LP/P rs776008078 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068595 p.Asp419Val LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068596 p.Pro457His LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068597 p.Tyr458Cys LB/B rs1358826817 - GAA P10253 VAR_068598 p.Pro482Arg LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068599 p.Gly483Val LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068600 p.Ala486Pro LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068601 p.Glu521Gln LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068602 p.Pro522Ser LP/P rs892129065 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068603 p.Ser523Tyr LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068604 p.Phe525Tyr LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068605 p.Ile557Phe LP/P rs747150965 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068606 p.Cys558Ser LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068607 p.Asn570Lys LP/P rs765362308 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068608 p.His572Gln LP/P rs772962666 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068609 p.Tyr575Cys LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068610 p.Gly576Arg LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068611 p.Arg585Lys LB/B rs747373179 - GAA P10253 VAR_068612 p.Arg594His LP/P rs775450536 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068613 p.Arg594Pro LP/P rs775450536 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068614 p.Ser601Leu LP/P rs374470794 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068615 p.Thr602Ala LP/P rs781484283 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068616 p.Ala610Val LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068617 p.Gly611Asp US rs1057517105 - GAA P10253 VAR_068618 p.His612Tyr LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068619 p.Thr614Lys LP/P rs369531647 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068620 p.Ser627Pro LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068621 p.Pro629Leu LB/B rs746961289 - GAA P10253 VAR_068622 p.Asn635Lys LP/P rs1414146587 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068623 p.Gly638Val LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068624 p.Gly648Asp LP/P rs1448515860 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068626 p.Arg702Leu LP/P rs398123172 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068627 p.Thr711Arg LB/B rs759292700 - GAA P10253 VAR_068628 p.Val718Ile LB/B rs141017311 - GAA P10253 VAR_068629 p.Thr737Asn LP/P rs1381005435 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068630 p.Gln743Lys LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068631 p.Trp746Gly LP/P rs1479740763 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068632 p.Trp746Ser LP/P rs752921215 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068633 p.Arg819Pro LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068634 p.Val916Phe LP/P rs1221948995 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_068635 p.Leu935Pro LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_070018 p.His568Leu LP/P - Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_070019 p.Tyr766Cys LP/P rs144016984 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_070020 p.Pro913Arg LP/P rs1480070037 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_074277 p.Arg437His US rs150868652 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_074278 p.Leu641Val US rs1420043899 Glycogen storage disease 2 (GSD2) [MIM:232300] GAA P10253 VAR_074279 p.Leu705Pro US - Glycogen storage disease 2 (GSD2) [MIM:232300] GAB1 Q13480 VAR_025261 p.Pro311Leu LB/B rs28925904 - GAB1 Q13480 VAR_036132 p.Tyr83Cys US - A breast cancer sample GAB1 Q13480 VAR_036133 p.Thr387Asn US - A breast cancer sample GAB1 Q13480 VAR_053096 p.Thr377Ile LB/B rs2229879 - GAB1 Q13480 VAR_080809 p.Gly116Glu LP/P rs1553950635 Deafness, autosomal recessive, 26 (DFNB26) [MIM:605428] GAB2 Q9UQC2 VAR_020407 p.Pro344Leu LB/B rs2279374 - GAB2 Q9UQC2 VAR_053097 p.Pro320Leu LB/B rs752597583 - GAB3 Q8WWW8 VAR_038917 p.Pro237Ser LB/B rs17281349 - GAB4 Q2WGN9 VAR_053098 p.Leu273Pro LB/B rs11703655 - GABARAPL2 P60520 VAR_049756 p.Val51Ala LB/B rs11556291 - GABBR1 Q9UBS5 VAR_010146 p.Ala20Val LB/B rs1805056 - GABBR1 Q9UBS5 VAR_010147 p.Gly489Ser LB/B rs1805057 - GABBR1 Q9UBS5 VAR_049279 p.Phe645Leu LB/B rs2076489 - GABBR2 O75899 VAR_010148 p.Tyr628Phe LB/B - - GABBR2 O75899 VAR_010149 p.Thr869Ala LB/B rs10985765 - GABBR2 O75899 VAR_049280 p.Leu163Pro LB/B rs35449008 - GABBR2 O75899 VAR_079029 p.Ala567Thr LP/P rs922847767 Neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS) [MIM:617903] GABBR2 O75899 VAR_080569 p.Gly693Trp US rs1554689320 Developmental and epileptic encephalopathy 59 (DEE59) [MIM:617904] GABBR2 O75899 VAR_080570 p.Ser695Ile LP/P rs1554689319 Developmental and epileptic encephalopathy 59 (DEE59) [MIM:617904] GABBR2 O75899 VAR_080571 p.Ile705Asn LP/P rs1554689315 Developmental and epileptic encephalopathy 59 (DEE59) [MIM:617904] GABBR2 O75899 VAR_080572 p.Ala707Thr LP/P rs1554689313 Neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS) [MIM:617903] GABPA Q06546 VAR_020315 p.Ala291Val LB/B rs2829897 - GABPA Q06546 VAR_020316 p.Glu345Lys LB/B rs2829900 - GABPB1 Q06547 VAR_035613 p.Pro31Ala US - A colorectal cancer sample GABPB2 Q8TAK5 VAR_039950 p.Val62Ile LB/B rs11204774 - GABRA1 P14867 VAR_013642 p.Ala322Asp LP/P rs121434579 Juvenile myoclonic epilepsy 5 (EJM5) [MIM:611136] GABRA1 P14867 VAR_071809 p.Arg112Gln LP/P rs587777308 Developmental and epileptic encephalopathy 19 (DEE19) [MIM:615744] GABRA1 P14867 VAR_071810 p.Asp219Asn LP/P rs587777364 Epilepsy, idiopathic generalized 13 (EIG13) [MIM:611136] GABRA1 P14867 VAR_071811 p.Gly251Ser LP/P rs587777307 Developmental and epileptic encephalopathy 19 (DEE19) [MIM:615744] GABRA1 P14867 VAR_071812 p.Lys306Thr LP/P rs587777309 Developmental and epileptic encephalopathy 19 (DEE19) [MIM:615744] GABRA1 P14867 VAR_078222 p.Leu146Met LP/P - Developmental and epileptic encephalopathy 19 (DEE19) [MIM:615744] GABRA2 P47869 VAR_083186 p.Met263Thr LP/P - Developmental and epileptic encephalopathy 78 (DEE78) [MIM:618557] GABRA2 P47869 VAR_083187 p.Val284Ala LP/P - Developmental and epileptic encephalopathy 78 (DEE78) [MIM:618557] GABRA2 P47869 VAR_083188 p.Leu291Val LP/P - Developmental and epileptic encephalopathy 78 (DEE78) [MIM:618557] GABRA2 P47869 VAR_083189 p.Thr292Lys LP/P - Developmental and epileptic encephalopathy 78 (DEE78) [MIM:618557] GABRA2 P47869 VAR_083190 p.Phe325Leu LP/P - Developmental and epileptic encephalopathy 78 (DEE78) [MIM:618557] GABRA2 P47869 VAR_083191 p.Asn335His US - Developmental and epileptic encephalopathy 78 (DEE78) [MIM:618557] GABRA2 P47869 VAR_083192 p.Asn377Lys US - - GABRA3 P34903 VAR_087845 p.Gly47Arg US - - GABRA3 P34903 VAR_087846 p.Thr166Met LP/P - Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features (EPILX2) [MIM:301091] GABRA3 P34903 VAR_087847 p.Gln242Leu US - Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features (EPILX2) [MIM:301091] GABRA3 P34903 VAR_087848 p.Thr336Met US - Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features (EPILX2) [MIM:301091] GABRA3 P34903 VAR_087849 p.Tyr474Cys LP/P - Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features (EPILX2) [MIM:301091] GABRA4 P48169 VAR_036032 p.Ser516Arg US - A breast cancer sample GABRA4 P48169 VAR_046552 p.Ala19Thr LB/B rs16859837 - GABRA4 P48169 VAR_046553 p.Leu26Met LB/B rs2229940 - GABRA5 P31644 VAR_083201 p.Val294Phe LP/P - Developmental and epileptic encephalopathy 79 (DEE79) [MIM:618559] GABRA5 P31644 VAR_083202 p.Val294Leu LP/P - Developmental and epileptic encephalopathy 79 (DEE79) [MIM:618559] GABRA5 P31644 VAR_083203 p.Ser413Phe LP/P - Developmental and epileptic encephalopathy 79 (DEE79) [MIM:618559] GABRA6 Q16445 VAR_036033 p.Pro180His US - A colorectal cancer sample GABRA6 Q16445 VAR_036782 p.Thr187Met LB/B rs3811993 - GABRA6 Q16445 VAR_036783 p.Pro404Ser LB/B rs34907804 - GABRB1 P18505 VAR_000302 p.His421Gln LB/B rs41311286 - GABRB1 P18505 VAR_035441 p.Ile429Asn LB/B rs17852014 - GABRB1 P18505 VAR_077104 p.Phe246Ser LP/P rs886039817 Developmental and epileptic encephalopathy 45 (DEE45) [MIM:617153] GABRB1 P18505 VAR_077105 p.Thr287Ile LP/P rs886039818 Developmental and epileptic encephalopathy 45 (DEE45) [MIM:617153] GABRB2 P47870 VAR_080712 p.Met79Thr US rs606231468 Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829] GABRB2 P47870 VAR_080713 p.Tyr244His US rs1554094149 Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829] GABRB2 P47870 VAR_080714 p.Leu277Ser US rs1554094145 Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829] GABRB2 P47870 VAR_080715 p.Thr284Lys US - Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829] GABRB2 P47870 VAR_080716 p.Thr287Pro LP/P rs1554093894 Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829] GABRB2 P47870 VAR_080717 p.Arg293Pro US - Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829] GABRB2 P47870 VAR_080718 p.Lys303Arg US rs1554093885 Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829] GABRB2 P47870 VAR_080719 p.Ala304Val US - Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829] GABRB2 P47870 VAR_080720 p.Val316Ile US rs1554093884 Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829] GABRB3 P28472 VAR_047957 p.Gly32Arg LP/P rs71651682 Epilepsy, childhood absence 5 (ECA5) [MIM:612269] GABRB3 P28472 VAR_047958 p.Gln173Leu LB/B rs17850679 - GABRB3 P28472 VAR_047959 p.Arg217His LB/B rs121913125 - GABRB3 P28472 VAR_077076 p.Asp120Asn LP/P rs886037938 Developmental and epileptic encephalopathy 43 (DEE43) [MIM:617113] GABRB3 P28472 VAR_077077 p.Thr157Met US - Developmental and epileptic encephalopathy 43 (DEE43) [MIM:617113] GABRB3 P28472 VAR_077078 p.Tyr182Phe LP/P rs886037939 Developmental and epileptic encephalopathy 43 (DEE43) [MIM:617113] GABRB3 P28472 VAR_077079 p.Gln249Lys LP/P rs886037940 Developmental and epileptic encephalopathy 43 (DEE43) [MIM:617113] GABRB3 P28472 VAR_077080 p.Leu256Gln LP/P rs1890228169 Developmental and epileptic encephalopathy 43 (DEE43) [MIM:617113] GABRB3 P28472 VAR_077081 p.Leu293His US - Developmental and epileptic encephalopathy 43 (DEE43) [MIM:617113] GABRB3 P28472 VAR_077082 p.Ala305Thr LP/P rs886037941 Developmental and epileptic encephalopathy 43 (DEE43) [MIM:617113] GABRB3 P28472 VAR_078223 p.Leu124Phe LP/P rs1057519550 Developmental and epileptic encephalopathy 43 (DEE43) [MIM:617113] GABRB3 P28472 VAR_078224 p.Ser254Phe LP/P rs1057519549 Developmental and epileptic encephalopathy 43 (DEE43) [MIM:617113] GABRB3 P28472 VAR_078719 p.Thr287Ile LP/P - Developmental and epileptic encephalopathy 43 (DEE43) [MIM:617113] GABRB3 P28472 VAR_079429 p.Arg232Gln US rs797045045 - GABRD O14764 VAR_043151 p.Glu177Ala LP/P rs121434580 Generalized epilepsy with febrile seizures plus 5 (GEFSP5) [MIM:613060] GABRD O14764 VAR_043152 p.Arg220Cys US rs139300921 Generalized epilepsy with febrile seizures plus 5 (GEFSP5) [MIM:613060] GABRD O14764 VAR_043153 p.Arg220His LB/B rs41307846 - GABRD O14764 VAR_078225 p.Val370Ile US rs1057519556 - GABRD O14764 VAR_079270 p.Pro62Ser LB/B - - GABRE P78334 VAR_048175 p.Ser102Ala LB/B rs1139916 - GABRE P78334 VAR_071089 p.Leu9Phe LB/B rs17855708 - GABRG1 Q8N1C3 VAR_047056 p.Gly403Glu LB/B rs17852913 - GABRG2 P18507 VAR_014265 p.Arg82Gln LP/P rs121909673 Epilepsy, childhood absence 2 (ECA2) [MIM:607681] GABRG2 P18507 VAR_014265 p.Arg82Gln LP/P rs121909673 Febrile seizures, familial, 8 (FEB8) [MIM:607681] GABRG2 P18507 VAR_014266 p.Lys328Met LP/P rs121909672 Generalized epilepsy with febrile seizures plus 3 (GEFSP3) [MIM:607681] GABRG2 P18507 VAR_038602 p.Arg177Gly LP/P rs267606837 Febrile seizures, familial, 8 (FEB8) [MIM:607681] GABRG2 P18507 VAR_065163 p.His357Arg LB/B rs17855003 - GABRG2 P18507 VAR_065226 p.Asn79Ser LB/B rs112894280 - GABRG2 P18507 VAR_071813 p.Pro83Ser US rs587777365 - GABRG2 P18507 VAR_078226 p.Tyr274Cys US - - GABRG2 P18507 VAR_078620 p.Arg323Gln LP/P rs397514737 Developmental and epileptic encephalopathy 74 (DEE74) [MIM:618396] GABRG2 P18507 VAR_078620 p.Arg323Gln LP/P rs397514737 Generalized epilepsy with febrile seizures plus 3 (GEFSP3) [MIM:607681] GABRG2 P18507 VAR_082266 p.Ala106Thr LP/P rs796052505 Developmental and epileptic encephalopathy 74 (DEE74) [MIM:618396] GABRG2 P18507 VAR_082267 p.Ile107Thr LP/P - Developmental and epileptic encephalopathy 74 (DEE74) [MIM:618396] GABRG2 P18507 VAR_082268 p.Pro282Ser LP/P rs796052508 Developmental and epileptic encephalopathy 74 (DEE74) [MIM:618396] GABRG2 P18507 VAR_082269 p.Arg323Trp LP/P rs796052510 Developmental and epileptic encephalopathy 74 (DEE74) [MIM:618396] GABRG2 P18507 VAR_082270 p.Phe343Leu LP/P rs796052511 Developmental and epileptic encephalopathy 74 (DEE74) [MIM:618396] GABRG3 Q99928 VAR_033957 p.Thr352Ala US rs2066712 - GABRP O00591 VAR_020323 p.Phe391Leu LB/B rs1063310 - GABRP O00591 VAR_036034 p.His416Arg US rs1290926314 A breast cancer sample GABRQ Q9UN88 VAR_030761 p.Leu15Ile LB/B rs4996045 - GABRQ Q9UN88 VAR_030762 p.Ile478Phe LB/B rs3810651 - GABRR1 P24046 VAR_024361 p.His27Arg LB/B rs1186902 - GABRR1 P24046 VAR_054426 p.Met26Val LB/B rs12200969 - GAD1 Q99259 VAR_011882 p.Val474Gly LB/B rs769403 - GAD1 Q99259 VAR_011883 p.Arg532Gln LB/B rs769402 - GAD1 Q99259 VAR_011884 p.Phe565Leu LB/B rs1049736 - GAD1 Q99259 VAR_018861 p.Ile228Leu LB/B rs45566933 - GAD1 Q99259 VAR_031021 p.Ser12Cys LB/B rs121918345 - GAD1 Q99259 VAR_085521 p.Glu509Lys LP/P rs1381723796 Developmental and epileptic encephalopathy 89 (DEE89) [MIM:619124] GAD2 Q05329 VAR_018821 p.Gly12Arg LB/B rs8190591 - GAD2 Q05329 VAR_018822 p.Lys124Asn LB/B rs8190600 - GAD2 Q05329 VAR_018823 p.Lys286Arg LB/B rs8190671 - GAD2 Q05329 VAR_018824 p.Arg375Gln LB/B rs8190730 - GAD2 Q05329 VAR_029176 p.Pro153Gln LB/B rs2839672 - GAD2 Q05329 VAR_029177 p.Gly232Glu LB/B rs2839673 - GAD2 Q05329 VAR_029178 p.Gly326Ala LB/B rs2839678 - GADD45G O95257 VAR_018888 p.Gly112Ser LB/B rs3138505 - GAGE10 A6NGK3 VAR_085737 p.Pro11Ser LB/B rs782631403 - GAGE10 A6NGK3 VAR_085738 p.Arg15Leu LB/B rs782469432 - GAGE12J A6NER3 VAR_037385 p.Tyr9Cys LB/B rs7064096 - GAGE12J A6NER3 VAR_037386 p.Arg13Ser LB/B rs7064105 - GAGE12J A6NER3 VAR_037387 p.Pro16Arg LB/B rs6520418 - GAGE12J A6NER3 VAR_043979 p.Arg28Gln LB/B rs7064530 - GAGE12J A6NER3 VAR_087982 p.Glu112Lys LB/B rs1373158842 - GAK O14976 VAR_040505 p.Ser144Leu LB/B rs768962219 - GAK O14976 VAR_040506 p.Val580Met LB/B rs34255232 - GAK O14976 VAR_040507 p.Asp787Tyr LB/B rs34585705 - GAK O14976 VAR_040508 p.Gln877Arg LB/B rs149842313 - GAK O14976 VAR_040509 p.Gly962Asp US rs773153935 A lung neuroendocrine carcinoma sample GAK O14976 VAR_040510 p.Thr1051Met LB/B rs35227944 - GAK O14976 VAR_040511 p.Gln1120His LB/B rs55801437 - GAK O14976 VAR_040512 p.Pro1137Leu LB/B rs56169884 - GAK O14976 VAR_040513 p.Ser1168Asn LB/B rs56326341 - GAK O14976 VAR_040514 p.Lys1265Arg LB/B rs2306242 - GAK O14976 VAR_040515 p.Asp1297Asn LB/B rs1134921 - GAL P22466 VAR_049121 p.Ala16Val LB/B rs34725707 - GAL P22466 VAR_074671 p.Ala39Glu LP/P rs1057517661 Epilepsy, familial temporal lobe, 8 (ETL8) [MIM:616461] GAL3ST1 Q99999 VAR_013684 p.Val29Met LB/B rs2267161 - GAL3ST2 Q9H3Q3 VAR_047060 p.Met4Leu LB/B rs12469459 - GAL3ST3 Q96A11 VAR_053988 p.Ala221Asp LB/B rs35285455 - GAL3ST3 Q96A11 VAR_053989 p.Glu410Ala LB/B rs4565902 - GAL3ST4 Q96RP7 VAR_021989 p.Arg353Gln LB/B rs3800952 - GAL3ST4 Q96RP7 VAR_033736 p.Ala467Val LB/B rs3823646 - GALC P54803 VAR_003380 p.Gly111Asp LP/P rs746487628 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003381 p.Gly111Ser LP/P rs756690487 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003382 p.Thr112Ala LP/P rs147313927 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003383 p.Met117Leu LP/P rs145580093 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003384 p.Asp187Val LP/P rs997021099 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003385 p.Gly194Ala LP/P rs963756824 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003386 p.Asp248Asn LB/B rs34362748 - GALC P54803 VAR_003387 p.Ile250Thr LP/P rs886039569 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003388 p.Ala263Thr LP/P rs1308816724 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003389 p.Gly284Ser LP/P rs377274761 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003390 p.Gly286Asp LP/P rs199847983 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003391 p.Asn295Thr LP/P rs746922378 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003392 p.Ser303Phe LP/P rs756352952 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003393 p.Pro318Ala LP/P rs1057516642 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003394 p.Arg396Trp LP/P rs770485731 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003395 p.Pro400Leu LP/P rs771232832 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003396 p.Thr468Ser US rs34134328 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003397 p.Phe514Ser LP/P rs375867319 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003398 p.Thr529Met LP/P rs200960659 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003399 p.Arg531Cys LP/P rs749893889 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003400 p.Asp544Asn LP/P rs387906952 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003401 p.Ile562Thr LB/B rs398607 - GALC P54803 VAR_003402 p.Val566Gly LP/P - Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003403 p.Tyr567Ser LP/P rs752537626 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003404 p.Ala592Ser LP/P rs1360345372 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003405 p.Ile599Ser LP/P rs387906953 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_003406 p.Thr641Ala LB/B rs421262 - GALC P54803 VAR_003407 p.Leu645Arg LP/P rs780593419 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_013956 p.Gly59Arg LP/P - Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_013957 p.Ser68Phe LP/P rs1555383892 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_013958 p.Arg79His LP/P rs370117160 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_013959 p.Ile82Met LP/P - Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_013960 p.Arg184Cys LB/B rs1805078 - GALC P54803 VAR_013961 p.Thr278Ile LP/P - Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_013962 p.Ile305Val LB/B rs74887188 - GALC P54803 VAR_013963 p.Tyr314Cys LP/P rs1595215209 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_013964 p.Tyr335Cys LP/P rs757407613 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_013965 p.Trp426Gly LP/P - Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_013966 p.Arg531His LP/P rs200378205 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_013967 p.Gly553Arg LP/P rs748573754 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_013968 p.Leu634Ser LP/P rs138577661 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_013969 p.Thr668Arg LP/P - Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_064430 p.Ala21Pro LB/B rs111887056 - GALC P54803 VAR_064431 p.Gly41Ser LP/P rs387906955 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_064432 p.Glu130Lys LP/P rs374635469 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_064433 p.Pro318Arg LP/P rs387906954 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_064434 p.Gly323Arg LP/P rs1472207768 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_064435 p.Ile384Thr LP/P rs1376496659 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_064436 p.Arg396Leu LP/P - Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_064437 p.Tyr490Asn LP/P rs202135871 Krabbe disease (KRB) [MIM:245200] GALC P54803 VAR_069512 p.Val681Met LP/P rs200607029 Krabbe disease (KRB) [MIM:245200] GALE Q14376 VAR_002539 p.Asn34Ser LP/P rs121908046 Galactosemia 3 (GALAC3) [MIM:230350] GALE Q14376 VAR_002540 p.Gly90Glu LP/P rs28940882 Galactosemia 3 (GALAC3) [MIM:230350] GALE Q14376 VAR_002541 p.Asp103Gly LP/P rs28940883 Galactosemia 3 (GALAC3) [MIM:230350] GALE Q14376 VAR_002542 p.Ala180Val LB/B rs3204468 - GALE Q14376 VAR_002543 p.Leu183Pro LP/P rs121908045 Galactosemia 3 (GALAC3) [MIM:230350] GALE Q14376 VAR_002544 p.Lys257Arg LP/P rs28940884 Galactosemia 3 (GALAC3) [MIM:230350] GALE Q14376 VAR_002545 p.Leu313Met LP/P rs3180383 Galactosemia 3 (GALAC3) [MIM:230350] GALE Q14376 VAR_002546 p.Gly319Glu LP/P rs28940885 Galactosemia 3 (GALAC3) [MIM:230350] GALE Q14376 VAR_010058 p.Val94Met LP/P rs121908047 Galactosemia 3 (GALAC3) [MIM:230350] GALE Q14376 VAR_037733 p.Ala25Val LP/P rs1431772923 Galactosemia 3 (GALAC3) [MIM:230350] GALE Q14376 VAR_037734 p.Arg40Cys LP/P rs144492228 Galactosemia 3 (GALAC3) [MIM:230350] GALE Q14376 VAR_037735 p.Asp69Glu LP/P rs1261697960 Galactosemia 3 (GALAC3) [MIM:230350] GALE Q14376 VAR_037736 p.Glu165Lys LP/P rs528467258 Galactosemia 3 (GALAC3) [MIM:230350] GALE Q14376 VAR_037737 p.Arg169Trp LP/P rs137853859 Galactosemia 3 (GALAC3) [MIM:230350] GALE Q14376 VAR_037738 p.Arg239Trp LP/P rs137853860 Galactosemia 3 (GALAC3) [MIM:230350] GALE Q14376 VAR_037739 p.Gly302Asp LP/P rs137853861 Galactosemia 3 (GALAC3) [MIM:230350] GALE Q14376 VAR_037740 p.Arg335His LP/P rs368637540 Galactosemia 3 (GALAC3) [MIM:230350] GALK1 P51570 VAR_002547 p.Val32Met LP/P rs104894576 Galactosemia 2 (GALAC2) [MIM:230200] GALK1 P51570 VAR_008514 p.Pro28Thr LP/P rs104894572 Galactosemia 2 (GALAC2) [MIM:230200] GALK1 P51570 VAR_015746 p.Ala198Val LP/P rs80084721 Galactosemia 2 (GALAC2) [MIM:230200] GALK1 P51570 VAR_023486 p.Gly36Arg LP/P - Galactosemia 2 (GALAC2) [MIM:230200] GALK1 P51570 VAR_023487 p.His44Tyr LP/P rs1555748926 Galactosemia 2 (GALAC2) [MIM:230200] GALK1 P51570 VAR_023488 p.Arg68Cys LP/P rs1365349586 Galactosemia 2 (GALAC2) [MIM:230200] GALK1 P51570 VAR_023489 p.Ile184Met LB/B rs773416476 - GALK1 P51570 VAR_023490 p.Arg239Gln LP/P rs575139300 Galactosemia 2 (GALAC2) [MIM:230200] GALK1 P51570 VAR_023491 p.Gly274Asp LB/B rs959842362 - GALK1 P51570 VAR_023492 p.Thr288Met LP/P rs759284637 Galactosemia 2 (GALAC2) [MIM:230200] GALK1 P51570 VAR_023493 p.Val338Ala LB/B - - GALK1 P51570 VAR_023494 p.Gly346Ser LP/P rs375690568 Galactosemia 2 (GALAC2) [MIM:230200] GALK1 P51570 VAR_023495 p.Gly349Ser LP/P rs754967473 Galactosemia 2 (GALAC2) [MIM:230200] GALK1 P51570 VAR_023496 p.Ala384Pro LP/P rs1184406839 Galactosemia 2 (GALAC2) [MIM:230200] GALK2 Q01415 VAR_049123 p.Ile182Val LB/B rs35507772 - GALM Q96C23 VAR_024451 p.Asn190Tyr LB/B rs6741892 - GALM Q96C23 VAR_083548 p.Gly142Arg US rs114440198 Galactosemia 4 (GALAC4) [MIM:618881] GALM Q96C23 VAR_083549 p.Arg267Gly LP/P - Galactosemia 4 (GALAC4) [MIM:618881] GALNS P34059 VAR_007172 p.Gly47Arg LP/P rs199638097 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007173 p.Asp60Asn LP/P rs118204447 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007174 p.Leu67Met LB/B rs11862754 - GALNS P34059 VAR_007175 p.Pro77Arg LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007177 p.Ser80Leu LP/P rs1209154325 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007178 p.Arg90Trp LP/P rs1028668536 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007179 p.Arg94Cys LP/P rs118204441 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007180 p.Arg94Gly LP/P rs118204441 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007181 p.Gly96Cys LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007182 p.Gly96Val LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007183 p.Phe97Val LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007184 p.Gln111Arg LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007185 p.Ile113Phe LP/P rs118204438 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007186 p.Pro125Leu LP/P rs746949976 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007187 p.Ser135Arg LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007188 p.Val138Ala LP/P rs118204436 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007189 p.Gly139Ser LP/P rs146093755 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007190 p.Trp141Arg LP/P rs794727625 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007191 p.Pro151Leu LP/P rs559063128 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007192 p.Pro151Ser LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007193 p.Gly155Arg LP/P rs398123438 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007194 p.Phe156Cys LP/P rs1301146300 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007195 p.Phe156Ser LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007196 p.His166Gln LP/P rs1301198698 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007197 p.Gly168Arg LP/P rs775732598 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007198 p.Ile178Val LB/B - - GALNS P34059 VAR_007199 p.Pro179His LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007200 p.Pro179Leu LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007201 p.Glu185Gly LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007202 p.Thr200Met LB/B rs7187889 - GALNS P34059 VAR_007203 p.Asn204Lys LP/P rs118204435 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007204 p.Trp230Gly LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007205 p.Ala231Gly LB/B rs34745339 - GALNS P34059 VAR_007206 p.Gly247Asp LP/P rs761385192 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007207 p.Ala257Thr LP/P rs773283163 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007208 p.Arg259Gln LP/P rs118204442 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007210 p.Phe284Val LP/P rs144067930 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007211 p.Ser287Leu LP/P rs770053354 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007212 p.Gly290Ser LP/P rs975409254 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007213 p.Ala291Asp LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007214 p.Ala291Thr LP/P rs118204448 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007215 p.Ser295Phe LP/P rs149239881 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007216 p.Gly301Cys LP/P rs118204443 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007217 p.Gly309Arg LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007218 p.Thr312Ser LP/P rs118204446 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007219 p.Met318Arg LP/P rs746756997 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007221 p.Met343Arg LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007222 p.Asp344Glu LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007223 p.Asp344Asn LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007224 p.Phe346Leu LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007225 p.Ala351Val LP/P rs761386453 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007226 p.Arg361Gly LP/P rs778120439 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007227 p.Arg376Gln LP/P rs150734270 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007228 p.Arg386Cys LP/P rs118204437 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007229 p.Met391Val LP/P rs398123429 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007230 p.Ala393Ser LB/B rs2303269 - GALNS P34059 VAR_007231 p.Leu395Pro LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007232 p.Leu395Val LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007233 p.Asn407His LP/P rs749578474 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007234 p.Trp409Ser LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007235 p.Glu450Val LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007236 p.Ala459Val LB/B rs114703967 - GALNS P34059 VAR_007237 p.Asn487Ser LP/P rs118204440 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007238 p.Val488Met LB/B rs78127134 - GALNS P34059 VAR_007239 p.Met494Val LP/P rs1401175486 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024873 p.Leu15Met LP/P rs866745731 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024875 p.Gly23Arg LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024876 p.Leu36Pro LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024877 p.Met41Leu LP/P rs1283377907 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024878 p.Gly42Glu LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024880 p.Ser53Phe LP/P rs1421990673 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024881 p.Arg61Trp LP/P rs145798311 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024882 p.Phe69Val LP/P rs118204445 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024884 p.Cys79Tyr LP/P rs1263679818 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024885 p.Arg94Leu LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024886 p.Ala107Thr LP/P rs763184657 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024887 p.Gly116Ser LP/P rs1444754604 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024888 p.Trp141Cys LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024889 p.His150Tyr LP/P rs1168278189 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024890 p.Gly155Glu LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024891 p.Ser162Phe LP/P rs118204444 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024892 p.Asn164Thr LP/P rs761725425 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024893 p.Phe167Val LP/P rs148565559 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024894 p.Asp171Ala LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024895 p.Pro179Ser LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024896 p.Ala203Val LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024897 p.Asp233Asn LP/P rs753051547 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024898 p.Val239Phe LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024899 p.Arg253Trp LP/P rs775300515 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024900 p.Glu260Asp LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024902 p.Leu307Pro LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024903 p.Lys310Asn LP/P rs377285422 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024904 p.Trp325Cys LP/P rs1269110043 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024905 p.Gly340Asp LP/P rs267606838 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024906 p.Ser341Arg LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024907 p.Leu345Pro LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024908 p.Leu352Pro LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024909 p.Pro357Leu LP/P rs769748679 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024910 p.Leu369Pro LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024911 p.Arg380Ser LP/P rs200763834 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024912 p.Arg380Thr LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024913 p.Arg386His LP/P rs1221167717 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024914 p.Asp388Asn LP/P rs373739301 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024915 p.Ala392Val LP/P rs398123430 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024916 p.His398Asp LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024917 p.His401Tyr LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024919 p.Phe452Ile LP/P rs398123432 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024920 p.Ser470Pro LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024921 p.Pro484Ser LP/P rs1204485789 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_036493 p.Pro510Thr US - A colorectal cancer sample GALNS P34059 VAR_071569 p.Val16Glu LP/P rs794729202 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071570 p.Leu36Arg LP/P rs755832705 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071571 p.Asp40Asn LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071572 p.Val48Gly LP/P rs191519947 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071573 p.Glu51Lys LP/P rs1296755011 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071574 p.Ser74Phe LB/B - - GALNS P34059 VAR_071575 p.Pro81Leu LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071576 p.Ala84Glu LP/P rs141340188 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071577 p.Leu91Pro LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071578 p.Gly116Val LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071579 p.Glu121Asp LB/B - - GALNS P34059 VAR_071580 p.His145Tyr LP/P rs577334837 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071581 p.Phe156Leu LP/P rs1308500116 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071582 p.Trp159Cys LB/B - - GALNS P34059 VAR_071583 p.Cys165Tyr LB/B rs768757999 - GALNS P34059 VAR_071584 p.His166Arg LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071585 p.Gly201Glu LP/P rs772413313 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071586 p.Leu214Pro LP/P rs771810111 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071587 p.Phe216Ser LP/P rs747805226 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071588 p.Thr235Lys LP/P rs398123440 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071589 p.Arg251Gln LB/B rs1199639828 - GALNS P34059 VAR_071590 p.Tyr254Cys LB/B - - GALNS P34059 VAR_071591 p.Glu260Lys LB/B - - GALNS P34059 VAR_071592 p.Ser264Thr LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071593 p.Arg380Gly LP/P rs770908172 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071594 p.Gly415Val LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071595 p.Ile416Thr LP/P rs142822371 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071596 p.Pro420Arg LP/P - Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071597 p.Ala492Thr LP/P rs760300454 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071598 p.Asn495Lys LB/B rs886039377 - GALNS P34059 VAR_071599 p.Gly500Ser LP/P rs1303492021 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_071600 p.Cys507Phe LP/P rs398123433 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000] GALNT1 Q10472 VAR_033946 p.Tyr414Asp LB/B rs34304568 - GALNT11 Q8NCW6 VAR_019589 p.Pro151Ser LB/B rs6464201 - GALNT11 Q8NCW6 VAR_019590 p.Asp197Tyr LB/B rs3778922 - GALNT12 Q8IXK2 VAR_064352 p.Gly3Glu LB/B rs1356894484 - GALNT12 Q8IXK2 VAR_064353 p.Gly46Arg LB/B rs10987768 - GALNT12 Q8IXK2 VAR_064354 p.Glu119Val LB/B rs1137654 - GALNT12 Q8IXK2 VAR_064355 p.Asp261Asn LB/B rs41306504 - GALNT12 Q8IXK2 VAR_064356 p.Gly272Arg LB/B rs367645298 - GALNT12 Q8IXK2 VAR_064357 p.Arg297Trp LP/P rs149726976 Colorectal cancer 1 (CRCS1) [MIM:608812] GALNT12 Q8IXK2 VAR_064358 p.Asp303Asn LP/P rs145236923 Colorectal cancer 1 (CRCS1) [MIM:608812] GALNT12 Q8IXK2 VAR_064359 p.Glu341Asp LP/P - Colorectal cancer 1 (CRCS1) [MIM:608812] GALNT12 Q8IXK2 VAR_064360 p.Arg373His LP/P rs920049418 Colorectal cancer 1 (CRCS1) [MIM:608812] GALNT12 Q8IXK2 VAR_064361 p.Arg382His LP/P rs868590153 Colorectal cancer 1 (CRCS1) [MIM:608812] GALNT12 Q8IXK2 VAR_064362 p.Cys479Phe LP/P - Colorectal cancer 1 (CRCS1) [MIM:608812] GALNT12 Q8IXK2 VAR_064363 p.Thr491Met LP/P rs267606840 Colorectal cancer 1 (CRCS1) [MIM:608812] GALNT12 Q8IXK2 VAR_064364 p.Arg552Lys LB/B rs1285871027 - GALNT12 Q8IXK2 VAR_068509 p.Tyr396Cys LP/P rs1272530441 Colorectal cancer 1 (CRCS1) [MIM:608812] GALNT13 Q8IUC8 VAR_049242 p.Glu59Asp LB/B rs34086479 - GALNT14 Q96FL9 VAR_033948 p.Gln469Lys LB/B rs2288101 - GALNT15 Q8N3T1 VAR_019593 p.His510Tyr LB/B rs2271077 - GALNT15 Q8N3T1 VAR_049243 p.Val68Gly LB/B rs36026882 - GALNT15 Q8N3T1 VAR_049244 p.Pro151Leu LB/B rs11715981 - GALNT15 Q8N3T1 VAR_049245 p.Pro324Ala LB/B rs12634179 - GALNT15 Q8N3T1 VAR_049246 p.Ala432Thr LB/B rs17851238 - GALNT16 Q8N428 VAR_055848 p.Val201Met LB/B rs12879377 - GALNT16 Q8N428 VAR_061195 p.Pro497Ser LB/B rs59840366 - GALNT2 Q10471 VAR_019575 p.Val554Met LB/B rs2273970 - GALNT2 Q10471 VAR_049240 p.Arg245His LB/B rs1923950 - GALNT2 Q10471 VAR_084283 p.Phe104Ser LP/P rs1663960324 Congenital disorder of glycosylation 2T (CDG2T) [MIM:618885] GALNT2 Q10471 VAR_084285 p.Arg210Pro LP/P - Congenital disorder of glycosylation 2T (CDG2T) [MIM:618885] GALNT2 Q10471 VAR_084286 p.Lys271Arg US - - GALNT2 Q10471 VAR_084288 p.Met493Val LB/B rs774570005 - GALNT4 Q8N4A0 VAR_019576 p.Ile270Thr LB/B rs2230281 - GALNT4 Q8N4A0 VAR_019577 p.Val506Ile LB/B rs2230283 - GALNT4 Q8N4A0 VAR_065257 p.Asp51Gly LB/B rs17853610 - GALNT5 Q7Z7M9 VAR_019578 p.Pro77Leu LB/B rs3739112 - GALNT5 Q7Z7M9 VAR_019579 p.Gln489His LB/B rs6759356 - GALNT5 Q7Z7M9 VAR_035991 p.Glu507Asp US - A breast cancer sample GALNT5 Q7Z7M9 VAR_035992 p.Leu692Phe US - A breast cancer sample GALNT6 Q8NCL4 VAR_019580 p.Val423Ile LB/B rs747300 - GALNT8 Q9NY28 VAR_019581 p.Tyr53Asp LB/B rs10849133 - GALNT8 Q9NY28 VAR_019582 p.Tyr53Asn LB/B rs10849133 - GALNT8 Q9NY28 VAR_019583 p.Glu267Gly LB/B rs34776842 - GALNT8 Q9NY28 VAR_019584 p.Phe312Ser LB/B rs34829532 - GALNT8 Q9NY28 VAR_019585 p.Ala337Val LB/B rs199920896 - GALNT8 Q9NY28 VAR_019586 p.Asp438Gly LB/B rs559663039 - GALNT8 Q9NY28 VAR_019587 p.Val515Phe LB/B rs1468556 - GALNT8 Q9NY28 VAR_019588 p.Val611Met LB/B rs34114277 - GALNT8 Q9NY28 VAR_033947 p.Glu234Lys LB/B rs16931676 - GALNT8 Q9NY28 VAR_049241 p.Asp630Gly LB/B rs16931692 - GALNTL5 Q7Z4T8 VAR_019592 p.Cys124Arg LB/B rs6960270 - GALNTL5 Q7Z4T8 VAR_080036 p.Gly206Ala LB/B rs61729482 - GALP Q9UBC7 VAR_020426 p.Ile72Met LB/B rs3745833 - GALR1 P47211 VAR_003514 p.Trp15Cys LB/B rs1143093 - GALR1 P47211 VAR_014682 p.Ser334Asn LB/B rs5376 - GALR1 P47211 VAR_014683 p.Pro342Leu LB/B rs5377 - GALR3 O60755 VAR_049387 p.Arg342Gly LB/B rs8137541 - GALR3 O60755 VAR_059322 p.Gln349Arg LB/B rs8137553 - GALT P07902 VAR_002548 p.Asp28Tyr LP/P rs111033636 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002549 p.Ile32Asn LP/P rs111033644 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002550 p.Gln38Pro LP/P rs111033646 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002551 p.Val44Leu LP/P rs111033647 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002552 p.Val44Met LP/P rs111033647 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002553 p.Arg51Leu LP/P rs111033648 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002554 p.Gly55Cys LP/P rs111033654 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002555 p.Leu62Met LB/B rs1800461 - GALT P07902 VAR_002556 p.Arg67Cys LP/P rs111033658 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002557 p.Leu74Pro LP/P rs111033663 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002558 p.Ala81Thr LP/P rs111033665 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002559 p.Asn97Ser LP/P rs111033669 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002560 p.Asp98Asn LP/P rs111033670 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002561 p.Asp113Asn LP/P rs111033677 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002562 p.His114Leu LP/P rs111033678 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002563 p.Phe117Ser LP/P rs111033679 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002564 p.Gln118His LP/P rs111033673 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002565 p.Arg123Gly LP/P rs111033674 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002566 p.Arg123Gln LP/P rs111033675 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002567 p.Val125Ala LP/P rs111033680 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002568 p.Lys127Glu LP/P rs111033682 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002569 p.Cys130Tyr LP/P rs367543255 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002570 p.His132Tyr LP/P rs111033688 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002571 p.Ser135Leu LP/P rs111033690 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002572 p.Thr138Met LP/P rs111033686 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002573 p.Leu139Pro LP/P rs111033687 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002574 p.Met142Lys LP/P rs111033695 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002575 p.Met142Val LP/P rs111033692 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002576 p.Ser143Leu LP/P rs111033697 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002577 p.Arg148Gly LP/P rs111033693 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002578 p.Arg148Gln LP/P rs111033694 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002579 p.Arg148Trp LP/P rs111033693 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002580 p.Val150Leu LP/P rs111033699 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002581 p.Val151Ala LP/P rs111033701 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002582 p.Trp154Gly LP/P rs111033702 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002583 p.Phe171Ser LP/P rs111033715 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002584 p.Gly179Asp LP/P rs111033720 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002585 p.Pro183Thr LP/P rs111033721 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002586 p.His184Gln LP/P rs111033717 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002587 p.Gln188Arg LP/P rs75391579 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002588 p.Ser192Asn LP/P rs111033734 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002589 p.Phe194Leu LP/P rs111033726 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002590 p.Leu195Pro LP/P rs111033728 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002591 p.Ile198Met LP/P rs111033729 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002592 p.Ile198Thr LP/P rs1483461355 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002593 p.Ala199Thr LP/P rs111033730 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002594 p.Arg201His LP/P rs111033735 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002595 p.Glu203Lys LP/P rs111033736 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002596 p.Tyr209Cys LP/P rs111033744 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002597 p.Tyr209Ser LP/P rs111033744 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002598 p.Gln212His LP/P - Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002599 p.Leu217Pro LP/P rs111033741 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002600 p.Leu226Pro LP/P rs111033752 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002601 p.Arg231His LP/P rs111033754 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002602 p.Trp249Arg LP/P rs111033757 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002603 p.Tyr251Cys LP/P rs111033755 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002604 p.Tyr251Ser LP/P rs111033755 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002605 p.Arg258Cys LP/P rs368166217 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002606 p.Arg259Trp LP/P rs786204763 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002607 p.Arg262Pro LP/P rs111033763 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002608 p.Leu282Val LP/P rs111033772 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002609 p.Lys285Asn LP/P rs111033773 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002610 p.Leu289Arg LP/P rs111033775 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002611 p.Glu291Lys LP/P rs111033780 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002612 p.Glu308Lys LP/P rs111033784 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002613 p.Asn314Asp LP/P rs2070074 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002614 p.Gln317His LP/P rs111033787 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002615 p.Gln317Arg LP/P rs111033786 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002616 p.His319Gln LP/P rs111033792 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002617 p.Ala320Thr LP/P rs111033795 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002618 p.Tyr323Asp LP/P rs111033796 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002619 p.Tyr323His LP/P rs111033796 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002620 p.Pro324Ser LP/P rs111033798 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002621 p.Pro325Leu LP/P rs111033794 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002622 p.Arg328His LP/P rs111033802 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002623 p.Ser329Phe LP/P rs111033803 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002624 p.Ala330Val LP/P rs111033804 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002625 p.Arg333Gly LP/P rs111033800 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002626 p.Arg333Gln LP/P rs111033808 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002627 p.Arg333Trp LP/P rs111033800 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002628 p.Lys334Arg LP/P rs111033809 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002629 p.Met336Leu LP/P rs111033810 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002630 p.Gln344Lys LP/P rs111033814 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_002631 p.Thr350Ala LP/P rs111033817 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_008042 p.Ser45Leu LP/P rs111033652 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_008043 p.Met129Thr LP/P rs111033683 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_008044 p.Trp167Arg LP/P rs111033708 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_008045 p.Arg204Pro LP/P rs111033740 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_008047 p.Arg272Gly LP/P rs111033766 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_008048 p.Phe294Tyr LP/P rs111033781 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_023328 p.Arg51Gln LP/P rs111033648 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_023329 p.Ser135Trp LP/P rs111033690 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_023330 p.Lys229Asn LP/P rs111033753 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_023331 p.Gln252His LP/P rs111033769 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068531 p.Gln9His LP/P rs111033637 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068532 p.Thr23Ala LP/P rs111033635 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068533 p.Asp28His LP/P rs111033636 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068534 p.Arg33His LP/P rs111033829 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068535 p.Tyr34Asn LP/P rs111033836 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068536 p.Ser112Arg LP/P rs367543254 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068537 p.His132Gln LP/P rs367543256 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068538 p.Val168Leu LP/P rs367543258 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068539 p.Ile170Thr LP/P rs111033839 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068540 p.Ser181Ala LP/P rs111033828 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068541 p.Pro185His LP/P rs111033722 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068542 p.Pro185Ser LP/P rs111033826 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068543 p.Ser192Gly LP/P rs111033830 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068544 p.Arg201Cys LP/P rs111033739 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068545 p.Glu220Lys LP/P rs111033747 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068546 p.Arg223Ser LP/P rs111033750 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068547 p.Leu227Pro LP/P rs111033846 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068548 p.Arg259Gln LP/P rs886042070 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068549 p.Pro265Ala LP/P rs111033764 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068550 p.Ile278Asn LP/P rs111033778 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068551 p.Leu289Phe LP/P rs111033774 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068552 p.Glu291Val LP/P rs111033841 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068553 p.Leu327Pro LP/P rs111033832 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068554 p.Leu342Ile LP/P rs111033812 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068555 p.Ala345Asp LP/P rs111033815 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068824 p.Tyr89His LP/P rs111033666 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068825 p.Gln103Arg LP/P rs367543252 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068826 p.Pro166Ala LP/P rs367543257 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068827 p.Ser181Phe LP/P rs367543259 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068828 p.Pro185Leu LP/P rs111033722 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068829 p.Lys285Arg LP/P rs367543263 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_068830 p.Arg333Leu LP/P rs111033808 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_072793 p.Arg33Pro LP/P - Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_072794 p.Gly83Val LP/P - Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_072795 p.Met142Thr LP/P rs111033695 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_072796 p.Gly175Asp LP/P rs111033718 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_072797 p.Arg231Cys LP/P rs111033749 Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_072798 p.Pro244Ser LP/P - Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_072799 p.Leu267Arg LP/P - Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_072800 p.Leu267Val LP/P - Galactosemia 1 (GALAC1) [MIM:230400] GALT P07902 VAR_072801 p.Glu271Asp LP/P rs1262475195 Galactosemia 1 (GALAC1) [MIM:230400] GAMT Q14353 VAR_025723 p.Thr209Met LB/B rs17851582 - GAMT Q14353 VAR_058102 p.Trp20Ser LP/P rs80338734 Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_058103 p.Met50Leu LP/P rs104894694 Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_058104 p.His51Pro LP/P - Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_058105 p.Ala54Pro LP/P rs1220169908 Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_058106 p.Cys169Tyr LP/P rs121909272 Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_058107 p.Leu197Pro LP/P - Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_071775 p.Pro8Thr LB/B rs776498025 - GAMT Q14353 VAR_071776 p.Tyr27His LB/B rs200833152 - GAMT Q14353 VAR_071777 p.Trp45Arg LP/P rs886054247 Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_071778 p.Gly68Cys LP/P rs1447665588 Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_071779 p.Ala75Val LP/P rs1441030187 Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_071780 p.Val78Glu LP/P - Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_071781 p.Val110Phe LP/P rs753198836 Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_071782 p.Asp135Asn LP/P rs774144200 Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_071783 p.His147Tyr LP/P rs1371496558 Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_071784 p.Leu159Pro LP/P - Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_071785 p.Gly164Asp LP/P rs760101382 Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_071786 p.Leu166Pro LP/P rs1483148182 Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_071787 p.Cys169Arg LP/P rs1600158346 Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_071788 p.Arg208Pro LP/P rs767887772 Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] GAMT Q14353 VAR_075290 p.Arg44Leu LB/B rs200339910 - GAMT Q14353 VAR_075291 p.Met71Val LB/B rs372027428 - GAMT Q14353 VAR_075292 p.Ser76Leu LB/B rs150338273 - GAMT Q14353 VAR_075293 p.Val78Met LB/B rs141358977 - GAMT Q14353 VAR_075294 p.Val95Ile LB/B rs140778208 - GAMT Q14353 VAR_075295 p.Arg105Gln LB/B rs148838075 - GAMT Q14353 VAR_075296 p.Gln106Pro LB/B rs145817990 - GAMT Q14353 VAR_075297 p.Thr146Arg LB/B rs149821870 - GAMT Q14353 VAR_075298 p.Ala156Asp LB/B rs368221789 - GAMT Q14353 VAR_075299 p.Phe157Leu LB/B rs372260609 - GAMT Q14353 VAR_075300 p.Thr167Ile LB/B rs374762419 - GAMT Q14353 VAR_075301 p.Ala196Thr LB/B rs1355291180 - GAMT Q14353 VAR_075302 p.Ala196Val LB/B rs565109128 - GAMT Q14353 VAR_075303 p.Ala224Thr LB/B rs141471799 - GAN Q9H2C0 VAR_010757 p.Glu486Lys LP/P rs119485088 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_010759 p.Arg15Ser LP/P rs119485093 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_010760 p.Ser52Gly LP/P rs1597385719 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_010761 p.Ser79Leu LP/P rs1310137430 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_010762 p.Val82Phe LP/P rs371054532 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_010763 p.Arg138His LP/P rs119485092 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_010764 p.Arg269Gln LP/P rs759581558 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_010765 p.Leu309Arg LP/P rs1597403384 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_010766 p.Arg545Cys LP/P rs112201678 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_010767 p.Cys570Tyr LP/P rs1597414244 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_015560 p.Ile423Thr LP/P rs119485091 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_015680 p.Ile86Phe LP/P rs1597400020 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_015681 p.Gly368Arg LP/P rs758756818 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_054113 p.Ala51Pro LP/P rs750258209 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_054114 p.Tyr89Cys LP/P rs1597400024 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_054115 p.Val195Phe LP/P rs1432344872 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_054116 p.Pro315Leu LP/P rs144486241 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_054117 p.Gly474Arg LP/P rs1435035575 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_054118 p.Arg545His LP/P rs746486469 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] GAN Q9H2C0 VAR_073289 p.Ile102Thr LB/B rs1597401492 - GAN Q9H2C0 VAR_073290 p.Val438Ile LB/B rs1246053880 - GANAB Q14697 VAR_022086 p.Arg173Gln LB/B rs2276295 - GANAB Q14697 VAR_024529 p.Arg154Trp LB/B rs2276296 - GANAB Q14697 VAR_050272 p.Arg309Cys LB/B rs1063445 - GANAB Q14697 VAR_077088 p.Gln95Arg LB/B rs1392032530 - GANAB Q14697 VAR_077089 p.Thr232Ala US - - GANAB Q14697 VAR_077090 p.Thr383Arg LP/P rs879255642 Polycystic kidney disease 3 with or without polycystic liver disease (PKD3) [MIM:600666] GANAB Q14697 VAR_077091 p.Arg400Leu LP/P rs770519542 Polycystic kidney disease 3 with or without polycystic liver disease (PKD3) [MIM:600666] GANAB Q14697 VAR_077092 p.Arg817Trp LP/P rs879255643 Polycystic kidney disease 3 with or without polycystic liver disease (PKD3) [MIM:600666] GANAB Q14697 VAR_080920 p.His785Asn US rs753910059 - GANAB Q14697 VAR_080921 p.His850Tyr LB/B rs114915323 - GANAB Q14697 VAR_085222 p.Arg590Pro US rs1465649718 - GANC Q8TET4 VAR_018984 p.Leu11Val LB/B rs8043515 - GANC Q8TET4 VAR_018985 p.Gln44Arg LB/B rs8024732 - GANC Q8TET4 VAR_018986 p.Ile153Met LB/B rs75876980 - GANC Q8TET4 VAR_018987 p.Asp443Glu LB/B rs2578652 - GANC Q8TET4 VAR_018988 p.Phe845Ser LB/B rs7181742 - GANC Q8TET4 VAR_018989 p.Gln848Arg LB/B rs7180279 - GANC Q8TET4 VAR_056237 p.Ile166Val LB/B rs16973015 - GAP43 P17677 VAR_014172 p.Val59Ile LB/B rs6291 - GAP43 P17677 VAR_050271 p.Lys162Glu LB/B rs11557762 - GAPDH P04406 VAR_018889 p.Ala22Gly LB/B rs45541435 - GAPDH P04406 VAR_049218 p.Lys251Asn LB/B rs1062429 - GAPDHS O14556 VAR_049219 p.Asp110Asn LB/B rs2285514 - GAPT Q8N292 VAR_033673 p.Ala83Thr LB/B rs35260984 - GAREM1 Q9H706 VAR_030580 p.Thr243Asn LB/B rs671138 - GAREM1 Q9H706 VAR_030581 p.Lys291Arg LB/B rs3744921 - GAREM1 Q9H706 VAR_030582 p.Ala490Val LB/B rs16962974 - GAREM1 Q9H706 VAR_030583 p.Val580Ile LB/B rs3891458 - GAREM1 Q9H706 VAR_030584 p.Thr720Met LB/B rs2276374 - GARIN1A Q6NXP2 VAR_037267 p.Pro112Thr LB/B rs17169357 - GARIN1A Q6NXP2 VAR_037268 p.Asp114Val LB/B rs6971819 - GARIN1A Q6NXP2 VAR_037269 p.Arg136Trp LB/B rs6467210 - GARIN1A Q6NXP2 VAR_037270 p.Ile251Val LB/B rs1109552 - GARIN1B Q96KD3 VAR_037271 p.Ser228Leu LB/B rs6949056 - GARIN1B Q96KD3 VAR_037272 p.Glu242Lys LB/B rs6971091 - GARIN3 Q8TC56 VAR_032036 p.Ala543Val LB/B rs17852327 - GARIN3 Q8TC56 VAR_032037 p.Met564Thr LB/B rs31208 - GARIN3 Q8TC56 VAR_032038 p.Val599Ile LB/B rs2115480 - GARIN4 Q8IYT1 VAR_029464 p.Asn22Asp LB/B rs17853363 - GARIN4 Q8IYT1 VAR_029465 p.Asn253Ser LB/B rs3122712 - GARIN4 Q8IYT1 VAR_029466 p.Gly319Asp LB/B rs17853362 - GARIN4 Q8IYT1 VAR_029467 p.Asn551Asp LB/B rs3122713 - GARIN4 Q8IYT1 VAR_029468 p.Thr577Met LB/B rs3795842 - GARIN5A Q6IPT2 VAR_043465 p.Ser206Ile LB/B rs736769 - GARIN6 Q8NEG0 VAR_029638 p.Arg30Gly LB/B rs11109968 - GARIN6 Q8NEG0 VAR_029639 p.Met71Val LB/B rs11109969 - GARNL3 Q5VVW2 VAR_037456 p.His108Arg LB/B rs11550746 - GARNL3 Q5VVW2 VAR_037457 p.Ala752Ser LB/B rs34608132 - GARS1 P41250 VAR_018718 p.Glu125Gly LP/P rs137852645 Charcot-Marie-Tooth disease, axonal, 2D (CMT2D) [MIM:601472] GARS1 P41250 VAR_018719 p.Leu183Pro LP/P rs137852644 Neuronopathy, distal hereditary motor, autosomal dominant 5 (HMND5) [MIM:600794] GARS1 P41250 VAR_018720 p.Gly294Arg LP/P rs137852643 Charcot-Marie-Tooth disease, axonal, 2D (CMT2D) [MIM:601472] GARS1 P41250 VAR_018721 p.Gly580Arg LP/P rs137852646 Neuronopathy, distal hereditary motor, autosomal dominant 5 (HMND5) [MIM:600794] GARS1 P41250 VAR_054865 p.Pro42Ala LB/B rs1049402 - GARS1 P41250 VAR_054866 p.Thr268Ile US rs2230310 - GARS1 P41250 VAR_054867 p.Arg388Gln LB/B rs17159287 - GARS1 P41250 VAR_073187 p.Ala111Val LP/P rs370531212 Charcot-Marie-Tooth disease, axonal, 2D (CMT2D) [MIM:601472] GARS1 P41250 VAR_073188 p.Asp200Asn LP/P rs1554337369 Charcot-Marie-Tooth disease, axonal, 2D (CMT2D) [MIM:601472] GARS1 P41250 VAR_073188 p.Asp200Asn LP/P rs1554337369 Neuronopathy, distal hereditary motor, autosomal dominant 5 (HMND5) [MIM:600794] GARS1 P41250 VAR_073189 p.Ser265Phe LP/P rs1554337974 Charcot-Marie-Tooth disease, axonal, 2D (CMT2D) [MIM:601472] GARS1 P41250 VAR_073189 p.Ser265Phe LP/P rs1554337974 Neuronopathy, distal hereditary motor, autosomal dominant 5 (HMND5) [MIM:600794] GARS1 P41250 VAR_073190 p.Pro298Leu LP/P rs137852648 Charcot-Marie-Tooth disease, axonal, 2D (CMT2D) [MIM:601472] GARS1 P41250 VAR_073191 p.Ile334Phe US rs1554338260 Charcot-Marie-Tooth disease, axonal, 2D (CMT2D) [MIM:601472] GARS1 P41250 VAR_073192 p.His472Arg LP/P rs1060502838 Neuronopathy, distal hereditary motor, autosomal dominant 5 (HMND5) [MIM:600794] GARS1 P41250 VAR_073193 p.Asp554Asn LP/P rs137852647 Charcot-Marie-Tooth disease, axonal, 2D (CMT2D) [MIM:601472] GARS1 P41250 VAR_073194 p.Ser635Leu LB/B rs201358272 - GARS1 P41250 VAR_073195 p.Gly652Ala LP/P rs747080824 Charcot-Marie-Tooth disease, axonal, 2D (CMT2D) [MIM:601472] GARS1 P41250 VAR_074016 p.Asp200Tyr LP/P - Charcot-Marie-Tooth disease, axonal, 2D (CMT2D) [MIM:601472] GARS1 P41250 VAR_074017 p.Met292Arg LP/P rs1064795123 Charcot-Marie-Tooth disease, axonal, 2D (CMT2D) [MIM:601472] GARS1 P41250 VAR_079827 p.Arg310Gln LB/B rs1135401748 - GARS1 P41250 VAR_079828 p.Arg412Cys US rs770924455 - GARS1 P41250 VAR_079829 p.Gly598Ala US rs766280100 Neuronopathy, distal hereditary motor, autosomal dominant 5 (HMND5) [MIM:600794] GARS1 P41250 VAR_085141 p.Ser265Tyr US - Charcot-Marie-Tooth disease, axonal, 2D (CMT2D) [MIM:601472] GARS1 P41250 VAR_085142 p.Ile334Asn LP/P rs1554338262 Spinal muscular atrophy, infantile, James type (SMAJI) [MIM:619042] GARS1 P41250 VAR_085143 p.Gly652Arg LP/P rs1783251037 Spinal muscular atrophy, infantile, James type (SMAJI) [MIM:619042] GART P22102 VAR_011817 p.Leu21Phe LB/B rs1804387 - GART P22102 VAR_011818 p.Val421Ile LB/B rs8788 - GART P22102 VAR_011819 p.Asp752Gly LB/B rs8971 - GART P22102 VAR_051882 p.Asp510Gly LB/B rs35927582 - GART P22102 VAR_051883 p.Pro641Ala LB/B rs34588874 - GAS2L1 Q99501 VAR_059974 p.Ser490Gly LB/B rs34124440 - GAS2L2 Q8NHY3 VAR_053100 p.Ala540Thr LB/B rs12602590 - GAS2L2 Q8NHY3 VAR_053101 p.Ala654Val LB/B rs3744374 - GAS2L2 Q8NHY3 VAR_059975 p.Ala164Val LB/B rs11654604 - GAS2L2 Q8NHY3 VAR_062004 p.Arg829Trp LB/B rs56386706 - GAS2L3 Q86XJ1 VAR_033944 p.Leu461Ser LB/B rs11834625 - GAS2L3 Q86XJ1 VAR_033945 p.Pro500Thr LB/B rs17030365 - GAS6 Q14393 VAR_038823 p.Phe41Leu LB/B rs201378406 - GAS6 Q14393 VAR_038824 p.Ser231Tyr LB/B rs146159446 - GAS6 Q14393 VAR_038825 p.Val347Met LB/B rs144457857 - GAS6 Q14393 VAR_038826 p.Gly500Arg LB/B rs7992146 - GAS6 Q14393 VAR_038827 p.Ser580Leu LB/B rs79807310 - GAS6 Q14393 VAR_038828 p.Glu612Lys LB/B rs73583241 - GAS6 Q14393 VAR_038829 p.Arg616Gln LB/B rs199700915 - GAS8 O95995 VAR_016006 p.Glu199Lys LB/B rs868044 - GAS8 O95995 VAR_049230 p.Arg259Gln LB/B rs17178299 - GAS8 O95995 VAR_080338 p.Ala391Val LP/P rs147993982 Ciliary dyskinesia, primary, 33 (CILD33) [MIM:616726] GAS8-AS1 O95177 VAR_056843 p.Val72Ile LB/B rs3785183 - GASK1A Q9UFP1 VAR_063129 p.His227Tyr LB/B rs2936817 - GASK1A Q9UFP1 VAR_063130 p.Gln460Arg LB/B rs536119 - GASK1B Q6UWH4 VAR_032514 p.Gly432Ser LB/B rs17857283 - GAST P01350 VAR_049127 p.Arg3Pro LB/B rs34309618 - GATA1 P15976 VAR_010115 p.Val205Met LP/P rs104894815 X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367] GATA1 P15976 VAR_012706 p.Gly208Ser LP/P rs137852312 X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367] GATA1 P15976 VAR_012707 p.Asp218Gly LP/P rs104894816 X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367] GATA1 P15976 VAR_033114 p.Arg216Gln LP/P rs104894809 Thrombocytopenia with beta-thalassemia, X-linked (XLTT) [MIM:314050] GATA1 P15976 VAR_033115 p.Asp218Tyr LP/P rs104894808 X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367] GATA1 P15976 VAR_087448 p.Arg307Cys LP/P rs1057518396 Hemolytic anemia due to elevated adenosine deaminase (HAEADA) [MIM:301083] GATA1 P15976 VAR_087449 p.Arg307His LP/P - Hemolytic anemia due to elevated adenosine deaminase (HAEADA) [MIM:301083] GATA2 P23769 VAR_055004 p.Ala164Thr LB/B rs2335052 - GATA2 P23769 VAR_055005 p.Thr235Asn LB/B rs35079193 - GATA2 P23769 VAR_066405 p.Pro254Leu LP/P rs387906630 Immunodeficiency 21 (IMD21) [MIM:614172] GATA2 P23769 VAR_066406 p.Thr354Met LP/P rs387906631 Immunodeficiency 21 (IMD21) [MIM:614172] GATA2 P23769 VAR_066406 p.Thr354Met LP/P rs387906631 Myelodysplastic syndrome (MDS) [MIM:614286] GATA2 P23769 VAR_066407 p.Arg398Trp LP/P rs387906629 Immunodeficiency 21 (IMD21) [MIM:614172] GATA2 P23769 VAR_066644 p.Arg361Pro LP/P - Lymphedema, primary, with myelodysplasia (LMPM) [MIM:614038] GATA2 P23769 VAR_066645 p.Cys373Arg LP/P rs387906633 Lymphedema, primary, with myelodysplasia (LMPM) [MIM:614038] GATA3 P23771 VAR_017818 p.Trp274Arg LP/P rs104894163 Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) [MIM:146255] GATA3 P23771 VAR_019202 p.Gly242Ser LB/B rs11567901 - GATA3 P23771 VAR_033025 p.Arg366Leu US - A breast cancer sample GATA3 P23771 VAR_075427 p.Arg298Gln LP/P - Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) [MIM:146255] GATA4 P43694 VAR_016204 p.Gly296Ser LP/P rs104894073 Atrial septal defect 2 (ASD2) [MIM:607941] GATA4 P43694 VAR_038195 p.Ser52Phe LP/P rs104894074 Atrial septal defect 2 (ASD2) [MIM:607941] GATA4 P43694 VAR_038196 p.Ser377Gly LB/B rs3729856 - GATA4 P43694 VAR_067605 p.Ala6Val LP/P rs199922907 Ventricular septal defect 1 (VSD1) [MIM:614429] GATA4 P43694 VAR_067606 p.Arg43Trp LP/P rs387906770 Ventricular septal defect 1 (VSD1) [MIM:614429] GATA4 P43694 VAR_067608 p.Gly93Ala US rs56191129 Atrial septal defect 2 (ASD2) [MIM:607941] GATA4 P43694 VAR_067610 p.Pro163Ser LP/P rs387906769 Atrioventricular septal defect 4 (AVSD4) [MIM:614430] GATA4 P43694 VAR_067611 p.Thr280Met LP/P rs387906771 Atrial septal defect 2 (ASD2) [MIM:607941] GATA4 P43694 VAR_067612 p.Gly296Cys LP/P rs104894073 Atrial septal defect 2 (ASD2) [MIM:607941] GATA4 P43694 VAR_067613 p.Gly296Arg LP/P rs104894073 Ventricular septal defect 1 (VSD1) [MIM:614429] GATA4 P43694 VAR_067614 p.Met310Val LP/P rs387906772 Atrial septal defect 2 (ASD2) [MIM:607941] GATA4 P43694 VAR_067615 p.Gln316Glu US rs56298569 Atrial septal defect 2 (ASD2) [MIM:607941] GATA4 P43694 VAR_067616 p.Ala346Val LP/P rs115372595 Atrioventricular septal defect 4 (AVSD4) [MIM:614430] GATA4 P43694 VAR_067617 p.Glu359Lys LP/P rs368489876 Ventricular septal defect 1 (VSD1) [MIM:614429] GATA4 P43694 VAR_067618 p.Leu403Met LP/P rs777778466 Atrial septal defect 2 (ASD2) [MIM:607941] GATA4 P43694 VAR_067619 p.Pro407Gln US rs115099192 Tetralogy of Fallot (TOF) [MIM:187500] GATA4 P43694 VAR_067619 p.Pro407Gln US rs115099192 Ventricular septal defect 1 (VSD1) [MIM:614429] GATA4 P43694 VAR_067620 p.Ala411Val LB/B rs55633527 - GATA4 P43694 VAR_067621 p.Asp425Asn LB/B rs56208331 - GATA4 P43694 VAR_067622 p.Ser429Thr LP/P - Ventricular septal defect 1 (VSD1) [MIM:614429] GATA4 P43694 VAR_067623 p.Ala442Val LP/P rs146017816 Ventricular septal defect 1 (VSD1) [MIM:614429] GATA4 P43694 VAR_070670 p.Gly221Arg LP/P rs398122402 Testicular anomalies with or without congenital heart disease (TACHD) [MIM:615542] GATA4 P43694 VAR_071514 p.Ala9Pro LP/P rs864321699 Tetralogy of Fallot (TOF) [MIM:187500] GATA4 P43694 VAR_071515 p.Leu51Val LP/P - Tetralogy of Fallot (TOF) [MIM:187500] GATA4 P43694 VAR_071516 p.Asn285Ser LP/P - Tetralogy of Fallot (TOF) [MIM:187500] GATA4 P43694 VAR_072111 p.Val39Leu LB/B rs1139241 - GATA4 P43694 VAR_072112 p.Pro226Gln US - - GATA4 P43694 VAR_072113 p.Cys271Ser US - - GATA4 P43694 VAR_072114 p.Thr279Ser US - - GATA5 Q9BWX5 VAR_067699 p.Gly184Val US - Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_067700 p.Lys218Thr US - Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_067701 p.Ala266Pro US - Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_073070 p.Arg187Gly LP/P - Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_073071 p.Leu199Val LP/P rs1555896779 Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_073072 p.Trp200Gly LP/P rs1555896778 Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_073073 p.His207Arg LP/P - Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_073309 p.Gln3Arg LB/B rs113068438 - GATA5 Q9BWX5 VAR_073310 p.Tyr16Asp LP/P rs1555897088 Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_073311 p.Ser19Trp LB/B rs200383755 - GATA5 Q9BWX5 VAR_073312 p.Tyr138Phe LP/P - Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_073313 p.Tyr142His US rs111554140 Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_073314 p.Gly166Ser LB/B rs141950357 - GATA5 Q9BWX5 VAR_073315 p.Asp203Glu US rs41305803 Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_073316 p.Cys210Gly LP/P rs997414695 Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_073317 p.Gly240Asp LP/P - Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_073318 p.Thr252Pro LP/P - Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_080604 p.Thr67Pro LB/B rs6142775 - GATA5 Q9BWX5 VAR_080605 p.Arg132Gly US - Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_080606 p.Val190Ala US rs782051102 Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_080608 p.Asn223His US - Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA5 Q9BWX5 VAR_080609 p.His274Arg US - Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] GATA6 Q92908 VAR_067380 p.Gly15Arg LB/B rs116262672 - GATA6 Q92908 VAR_067381 p.Ala178Val LP/P rs387906815 Atrioventricular septal defect 5 (AVSD5) [MIM:614474] GATA6 Q92908 VAR_067382 p.Ser184Asn LP/P rs387906816 Atrial septal defect 9 (ASD9) [MIM:614475] GATA6 Q92908 VAR_067382 p.Ser184Asn LP/P rs387906816 Tetralogy of Fallot (TOF) [MIM:187500] GATA6 Q92908 VAR_067383 p.Leu198Val US rs387906814 Tetralogy of Fallot (TOF) [MIM:187500] GATA6 Q92908 VAR_067384 p.Thr452Ala LP/P rs387906817 Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] GATA6 Q92908 VAR_067385 p.Arg456Cys LP/P rs387906818 Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] GATA6 Q92908 VAR_067386 p.Arg456His LP/P rs387906819 Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] GATA6 Q92908 VAR_067387 p.Asn466Asp LP/P rs387906813 Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] GATA6 Q92908 VAR_067388 p.Asn466His LP/P rs387906813 Conotruncal heart malformations (CTHM) [MIM:217095] GATA6 Q92908 VAR_067389 p.Ala467Thr LP/P rs387906820 Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] GATA6 Q92908 VAR_067390 p.Lys473Gln LP/P - Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] GATA6 Q92908 VAR_078427 p.Pro91Ser LB/B rs766886560 - GATA6 Q92908 VAR_078428 p.Ala177Thr LB/B rs1263887431 - GATA6 Q92908 VAR_078429 p.Tyr235Ser US - - GATA6 Q92908 VAR_078430 p.Gly469Val US - - GATA6 Q92908 VAR_078431 p.Ala543Gly LB/B rs761668180 - GATA6 Q92908 VAR_078432 p.Arg585Leu LB/B rs201707559 - GATAD1 Q8WUU5 VAR_032533 p.Gly54Ser LB/B rs10281879 - GATAD1 Q8WUU5 VAR_068556 p.Ser102Pro LP/P rs387907188 Cardiomyopathy, dilated, 2B (CMD2B) [MIM:614672] GATAD1 Q8WUU5 VAR_068557 p.Arg233Trp LB/B rs34768413 - GATAD2A Q86YP4 VAR_059308 p.Arg17Gln LB/B rs10426883 - GATAD2A Q86YP4 VAR_059309 p.Asn296Ser LB/B rs2288851 - GATAD2B Q8WXI9 VAR_069363 p.Ile316Val LB/B - - GATAD2B Q8WXI9 VAR_069364 p.Ser586Leu LB/B - - GATB O75879 VAR_049128 p.Ala30Asp LB/B rs11556167 - GATB O75879 VAR_083986 p.Phe136Leu US rs376766195 Combined oxidative phosphorylation deficiency 41 (COXPD41) [MIM:618838] GATC O43716 VAR_049129 p.Ser3Leu LB/B rs17431446 - GATC O43716 VAR_083987 p.Met78Arg LP/P rs1370579526 Combined oxidative phosphorylation deficiency 42 (COXPD42) [MIM:618839] GATD3 P0DPI2 VAR_020441 p.Leu248Val LB/B rs2838497 - GATD3 P0DPI2 VAR_027921 p.Val148Met LB/B rs17264865 - GATM P50440 VAR_020305 p.Gln110His LB/B rs1288775 - GATM P50440 VAR_069816 p.Tyr203Ser LP/P rs397514709 Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] GATM P50440 VAR_071789 p.Arg413Gln LP/P rs1461653218 Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] GATM P50440 VAR_071790 p.Arg413Trp LP/P rs1244824806 Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] GATM P50440 VAR_076483 p.Arg23Gln US rs370155767 Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] GATM P50440 VAR_076484 p.Ile93Val US rs34991226 Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] GATM P50440 VAR_076485 p.Lys102Asn US rs376335787 Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] GATM P50440 VAR_076486 p.Pro105Leu LP/P rs147804855 Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] GATM P50440 VAR_076487 p.Glu181Lys LP/P rs376982466 Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] GATM P50440 VAR_076488 p.Ala185Pro LP/P - Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] GATM P50440 VAR_076489 p.Arg189Cys LP/P rs377578020 Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] GATM P50440 VAR_076490 p.Ala208Thr LP/P rs374059924 Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] GATM P50440 VAR_076491 p.Ser231Cys LB/B rs202225656 - GATM P50440 VAR_076492 p.Asp234Gly LB/B rs146057680 - GATM P50440 VAR_076493 p.Arg282His LP/P rs371447931 Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] GATM P50440 VAR_076494 p.Leu329Val LP/P rs373802463 Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] GATM P50440 VAR_076495 p.Pro346Leu LP/P rs142814307 Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] GATM P50440 VAR_076496 p.Arg415Gln US rs374592247 Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] GATM P50440 VAR_084378 p.Pro320Ser LP/P rs1889443535 Fanconi renotubular syndrome 1 (FRTS1) [MIM:134600] GATM P50440 VAR_084379 p.Thr336Ala LP/P rs1889422994 Fanconi renotubular syndrome 1 (FRTS1) [MIM:134600] GATM P50440 VAR_084380 p.Thr336Ile LP/P - Fanconi renotubular syndrome 1 (FRTS1) [MIM:134600] GATM P50440 VAR_084381 p.Pro341Leu LP/P rs1889422661 Fanconi renotubular syndrome 1 (FRTS1) [MIM:134600] GBA1 P04062 VAR_003255 p.Val54Leu LP/P rs121908302 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_003256 p.Phe76Val LP/P - Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_003257 p.Thr82Ile LP/P rs1141811 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003258 p.Gly85Glu LP/P rs77829017 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_003259 p.Arg87Trp LP/P rs1141814 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003260 p.Lys118Asn LP/P rs121908312 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003261 p.Gly152Glu LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003262 p.Ile158Thr LP/P rs77834747 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003263 p.Arg159Gln LP/P rs79653797 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003263 p.Arg159Gln LP/P rs79653797 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003264 p.Arg159Trp LP/P rs439898 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003264 p.Arg159Trp LP/P rs439898 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003265 p.Pro161Ser LP/P rs121908299 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003266 p.Thr173Pro LP/P rs1441909908 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003267 p.Asp179His LP/P rs147138516 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003268 p.Lys196Gln LP/P rs121908297 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003269 p.Arg209Pro LP/P rs749416070 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003270 p.Ala215Asp LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003271 p.Pro217Ser LP/P - Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003272 p.Pro221Thr LP/P rs866075757 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003273 p.Trp223Arg LP/P rs61748906 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003273 p.Trp223Arg LP/P rs61748906 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003274 p.Asn227Ser LP/P rs364897 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003274 p.Asn227Ser LP/P rs364897 Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_003275 p.Asn227Lys LP/P rs381418 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003275 p.Asn227Lys LP/P rs381418 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003276 p.Val230Gly LP/P rs381427 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003277 p.Gly234Glu LP/P rs74462743 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003278 p.Ser235Pro LP/P rs1064644 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003278 p.Ser235Pro LP/P rs1064644 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003279 p.Gly241Arg LP/P rs409652 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003279 p.Gly241Arg LP/P rs409652 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003279 p.Gly241Arg LP/P rs409652 Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_003280 p.Tyr251His US rs121908300 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_003281 p.Phe252Ile LP/P rs381737 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003281 p.Phe252Ile LP/P rs381737 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003281 p.Phe252Ile LP/P rs381737 Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_003282 p.Phe255Tyr LP/P rs74500255 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_003283 p.Ser276Pro LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003284 p.Arg296Gln LP/P rs78973108 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003284 p.Arg296Gln LP/P rs78973108 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003285 p.Pro305Arg LP/P rs79215220 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003286 p.Arg324Cys LP/P rs765633380 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003286 p.Arg324Cys LP/P rs765633380 Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_003287 p.Pro328Leu LP/P rs121908298 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003288 p.Lys342Ile LP/P rs77714449 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003289 p.Ala348Val LP/P rs78396650 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003290 p.Trp351Cys LP/P rs121908304 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003291 p.Tyr352His LP/P - Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_003292 p.Asp354His US rs398123526 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003293 p.Ala357Asp US rs78188205 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003294 p.Thr362Ile LP/P rs76539814 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003295 p.Leu363Pro US rs1178732315 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003296 p.Gly364Arg LP/P rs121908305 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003297 p.Glu365Lys LP/P rs2230288 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003298 p.Cys381Gly LP/P rs121908306 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003299 p.Arg398Gln LP/P rs74979486 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003300 p.Ser403Thr LP/P rs121908307 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003301 p.Thr408Met LP/P rs75548401 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003302 p.Asn409Ser LP/P rs76763715 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003303 p.Gly416Ser LP/P rs121908311 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003303 p.Gly416Ser LP/P rs121908311 Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_003304 p.Trp417Gly LP/P rs1450426641 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003305 p.Asp419Ala US rs77284004 - GBA1 P04062 VAR_003306 p.Asp419Asn LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003307 p.Gly428Glu LP/P - Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003308 p.Pro430Leu LP/P rs76910485 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003309 p.Asn431Ile LP/P rs77738682 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003310 p.Val433Leu LP/P rs80356769 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003310 p.Val433Leu LP/P rs80356769 Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_003311 p.Asn435Thr LP/P rs75385858 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003312 p.Asp438Asn LP/P rs1553217009 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003312 p.Asp438Asn LP/P rs1553217009 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003313 p.Asp448His LP/P rs1064651 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003313 p.Asp448His LP/P rs1064651 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003313 p.Asp448His LP/P rs1064651 Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_003313 p.Asp448His LP/P rs1064651 Gaucher disease 3C (GD3C) [MIM:231005] GBA1 P04062 VAR_003314 p.Asp448Val LP/P rs77369218 Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_003315 p.Tyr451His LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003316 p.Pro454Arg LP/P rs121908295 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003317 p.Phe456Val LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003318 p.Tyr457Cys LP/P rs74752878 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_003318 p.Tyr457Cys LP/P rs74752878 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003319 p.Lys464Glu US - Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_003320 p.Leu483Arg LP/P rs421016 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003320 p.Leu483Arg LP/P rs421016 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003321 p.Leu483Pro LP/P rs421016 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003321 p.Leu483Pro LP/P rs421016 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003321 p.Leu483Pro LP/P rs421016 Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_003322 p.Ala485Pro LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003323 p.Ala495Pro LP/P rs368060 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003324 p.Arg502Cys LP/P rs80356771 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003324 p.Arg502Cys LP/P rs80356771 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_003325 p.Leu509Pro LB/B - - GBA1 P04062 VAR_003326 p.Gly517Ser LP/P rs121908301 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_003327 p.Arg535Cys LP/P rs747506979 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_003328 p.Arg535His LP/P rs75822236 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_009033 p.Glu80Lys LP/P - Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_009034 p.Ser146Leu LP/P rs758447515 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_009034 p.Ser146Leu LP/P rs758447515 Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_009035 p.Arg170Cys LP/P rs398123530 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_009035 p.Arg170Cys LP/P rs398123530 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_009036 p.Arg170Leu LP/P rs80356763 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_009036 p.Arg170Leu LP/P rs80356763 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_009037 p.Pro198Leu LP/P rs80222298 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_009038 p.Ala229Glu LP/P rs75636769 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_009039 p.Gly234Trp LP/P - Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_009040 p.His294Gln US rs367968666 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_009040 p.His294Gln US rs367968666 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_009040 p.His294Gln US rs367968666 Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_009041 p.Phe298Leu LP/P - Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_009041 p.Phe298Leu LP/P - Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_009042 p.Arg324His LP/P rs79696831 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_009042 p.Arg324His LP/P rs79696831 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_009043 p.Tyr343Cys LP/P rs77321207 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_009044 p.His350Arg LP/P rs78198234 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_009044 p.His350Arg LP/P rs78198234 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_009044 p.His350Arg LP/P rs78198234 Gaucher disease perinatal lethal (GDPL) [MIM:608013] GBA1 P04062 VAR_009045 p.Ala380Thr LP/P rs781306264 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_009046 p.Ser405Asn LP/P rs1392291885 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_009047 p.Trp432Arg LP/P - Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_009048 p.Val437Phe LP/P rs121908310 Gaucher disease perinatal lethal (GDPL) [MIM:608013] GBA1 P04062 VAR_009049 p.Asn501Lys LP/P - Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_009050 p.Asp513Tyr LP/P - Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_010059 p.Ile200Ser LP/P rs77933015 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_010060 p.Gly228Val LP/P rs78911246 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_010062 p.Tyr244Cys LP/P rs76026102 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_010062 p.Tyr244Cys LP/P rs76026102 Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_010063 p.Gly304Asp LP/P rs80116658 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_010064 p.Ser310Asn LP/P rs74731340 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_010065 p.Val391Leu LP/P rs398123527 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_010066 p.Arg392Gly LP/P rs121908308 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_010066 p.Arg392Gly LP/P rs121908308 Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_010067 p.Ser405Gly LP/P - Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_010068 p.Val414Leu LP/P rs398123528 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_010068 p.Val414Leu LP/P rs398123528 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_010069 p.Pro426Leu LP/P rs1057519357 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_010070 p.Val437Leu LP/P rs121908310 Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_010071 p.Pro440Leu LP/P rs74598136 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_010072 p.Ile441Thr LP/P rs75564605 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_010073 p.Phe450Ile LP/P rs1553216985 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_010074 p.Lys452Gln LP/P - Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_010075 p.Thr530Ile LP/P rs78016673 Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_032197 p.Arg87Gln LP/P rs78769774 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_032198 p.Pro161Leu LP/P rs79637617 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032199 p.Met162Val LP/P rs377325220 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032200 p.Asp166Val LP/P rs79796061 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032201 p.Ile200Asn LP/P rs77933015 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032202 p.Leu213Phe LP/P rs374591570 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032203 p.Leu224Phe LP/P - Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032204 p.Gly232Glu LP/P rs1376479747 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032205 p.Lys237Glu LP/P rs773409311 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_032206 p.Leu303Ile LP/P rs1296507371 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032207 p.Glu388Lys LP/P rs1161552095 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032208 p.Arg392Trp LP/P rs121908308 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032209 p.Tyr402Cys LP/P rs76228122 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032210 p.Leu410Val LP/P rs121908314 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032211 p.Asp419His LP/P - Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032212 p.Asn421Lys LP/P - Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032213 p.Gly429Arg LP/P - Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032214 p.Phe436Ser LP/P rs75243000 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032215 p.Met455Val LP/P - Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032216 p.Leu500Pro LP/P rs1362103320 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032217 p.Arg502Pro LP/P - Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032394 p.Cys55Ser LP/P rs773007510 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032395 p.Asp63Asn LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_032396 p.Met92Thr LB/B rs1141815 - GBA1 P04062 VAR_032397 p.Ala129Thr LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_032398 p.Asn156Asp LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_032399 p.Ile158Ser LP/P rs77834747 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_032400 p.Thr173Ile LP/P rs78657146 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_032401 p.Ala175Glu LP/P rs79660787 Gaucher disease (GD) [MIM:230800] GBA1 P04062 VAR_032402 p.Pro198Thr LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_032403 p.His201Pro LP/P rs76500263 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_032404 p.Arg209Cys LP/P rs398123532 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_032405 p.Pro221Leu LP/P rs80205046 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_032406 p.Ala229Thr LP/P - Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_032407 p.Val230Glu LP/P rs381427 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_032408 p.Thr270Arg LP/P rs76725886 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_032409 p.Phe290Leu LP/P rs121908313 Gaucher disease perinatal lethal (GDPL) [MIM:608013] GBA1 P04062 VAR_032410 p.Ser310Gly LB/B rs1057942 - GBA1 P04062 VAR_032411 p.Arg368His LB/B rs1064648 - GBA1 P04062 VAR_032412 p.Met400Ile US rs149487315 Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_032413 p.Asp438Tyr LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_032414 p.Ile441Phe LP/P - Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_032415 p.Gly460Asp LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_032416 p.His490Arg US rs76071730 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_063066 p.Lys46Glu US rs142761046 - GBA1 P04062 VAR_063067 p.Asp482Asn LB/B rs75671029 - GBA1 P04062 VAR_063068 p.Val497Leu LB/B - - GBA1 P04062 VAR_081188 p.Cys62Trp LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_081189 p.Pro198Ser LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_081190 p.Asn227Ile LP/P - Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_081191 p.Phe266Leu LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_081192 p.Glu274Lys LP/P - Gaucher disease 2 (GD2) [MIM:230900] GBA1 P04062 VAR_081193 p.Pro284Thr LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_081194 p.Gly289Val LP/P rs878853321 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_081195 p.Arg301Gly LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_081196 p.Gly304Arg LP/P - Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_081197 p.Ile347Ser LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_081198 p.Trp351Ser LP/P rs1553217294 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_081199 p.Ser405Arg LP/P rs75528494 Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_081200 p.Trp420Cys LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_081201 p.Val486Glu LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_088437 p.Phe120Leu LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_088438 p.Tyr147Cys LP/P - Gaucher disease 3 (GD3) [MIM:231000] GBA1 P04062 VAR_088439 p.Tyr155His LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_088440 p.Tyr174Ser LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_088441 p.Leu214Pro LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_088442 p.Thr270Ile LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_088443 p.Asp322Asn LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_088444 p.Asn501Tyr LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA1 P04062 VAR_088445 p.Thr521Lys LP/P - Gaucher disease 1 (GD1) [MIM:230800] GBA2 Q9HCG7 VAR_069634 p.Arg630Trp LP/P rs398123012 Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409] GBA2 Q9HCG7 VAR_069635 p.Arg873His LP/P rs398123015 Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409] GBA2 Q9HCG7 VAR_081410 p.Asp594His LP/P rs398123064 Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409] GBA3 Q9H227 VAR_023587 p.Asp106Asn LB/B - - GBA3 Q9H227 VAR_023588 p.Arg213Pro LB/B rs17612341 - GBA3 Q9H227 VAR_023589 p.Cys354Arg LB/B rs16873108 - GBA3 Q9H227 VAR_049298 p.Met172Ile LB/B rs36090352 - GBE1 Q04446 VAR_022109 p.Arg190Gly LB/B rs2229519 - GBE1 Q04446 VAR_022429 p.Leu224Pro LP/P rs137852886 Glycogen storage disease 4 (GSD4) [MIM:232500] GBE1 Q04446 VAR_022430 p.Phe257Leu LP/P rs137852887 Glycogen storage disease 4 (GSD4) [MIM:232500] GBE1 Q04446 VAR_022431 p.Tyr329Ser LP/P rs80338671 Glycogen storage disease 4 (GSD4) [MIM:232500] GBE1 Q04446 VAR_022432 p.Arg515Cys LP/P rs80338672 Glycogen storage disease 4 (GSD4) [MIM:232500] GBE1 Q04446 VAR_022433 p.Arg515His LP/P rs201958741 Polyglucosan body neuropathy, adult form (APBN) [MIM:263570] GBE1 Q04446 VAR_022434 p.Arg524Gln LP/P rs80338673 Glycogen storage disease 4 (GSD4) [MIM:232500] GBE1 Q04446 VAR_022434 p.Arg524Gln LP/P rs80338673 Polyglucosan body neuropathy, adult form (APBN) [MIM:263570] GBE1 Q04446 VAR_022435 p.His545Arg LP/P rs137852889 Glycogen storage disease 4 (GSD4) [MIM:232500] GBE1 Q04446 VAR_022436 p.His628Arg LP/P rs137852891 Glycogen storage disease 4 (GSD4) [MIM:232500] GBE1 Q04446 VAR_034747 p.Thr265Ser LB/B rs17856389 - GBE1 Q04446 VAR_034748 p.Ile334Val LB/B rs2172397 - GBE1 Q04446 VAR_034749 p.Thr507Ala LB/B rs2228389 - GBF1 Q92538 VAR_051926 p.Gly1694Ser LB/B rs11191274 - GBF1 Q92538 VAR_088570 p.Cys983Tyr US rs2060050669 Charcot-Marie-Tooth disease, axonal, 2GG (CMT2GG) [MIM:606483] GBF1 Q92538 VAR_088571 p.Ala1138Val US rs1299997613 Charcot-Marie-Tooth disease, axonal, 2GG (CMT2GG) [MIM:606483] GBF1 Q92538 VAR_088573 p.Arg1462Gln US rs2060541274 Charcot-Marie-Tooth disease, axonal, 2GG (CMT2GG) [MIM:606483] GBGT1 Q8N5D6 VAR_022452 p.Leu20Phe LB/B rs2073924 - GBGT1 Q8N5D6 VAR_025068 p.Ser21Gly LB/B rs35578482 - GBGT1 Q8N5D6 VAR_025069 p.Leu79Pro LB/B rs12350913 - GBGT1 Q8N5D6 VAR_025070 p.Arg163Trp LB/B rs34260370 - GBGT1 Q8N5D6 VAR_025071 p.Asp200Asn LB/B rs34903033 - GBGT1 Q8N5D6 VAR_025072 p.Gln238Pro LB/B rs35366884 - GBGT1 Q8N5D6 VAR_025073 p.Thr248Ile LB/B rs35184631 - GBGT1 Q8N5D6 VAR_025074 p.Ile291Phe LB/B rs35403335 - GBGT1 Q8N5D6 VAR_085166 p.Arg296Gln LB/B rs375748588 - GBP1 P32455 VAR_014849 p.Thr349Ser LB/B rs1048425 - GBP1 P32455 VAR_033950 p.Ile78Val LB/B rs1048401 - GBP1 P32455 VAR_033951 p.Glu166Asp LB/B rs17130717 - GBP1 P32455 VAR_046550 p.Ala409Gly LB/B rs1048443 - GBP2 P32456 VAR_054815 p.Ser281Pro LB/B rs2230336 - GBP2 P32456 VAR_054816 p.Pro285Ala LB/B rs1803632 - GBP2 P32456 VAR_054817 p.Ser303Gly LB/B rs2230338 - GBP3 Q9H0R5 VAR_029082 p.Val469Met LB/B rs10493821 - GBP3 Q9H0R5 VAR_029083 p.Cys491Arg LB/B rs17433780 - GBP3 Q9H0R5 VAR_029084 p.Val558Ala LB/B rs11808228 - GBP3 Q9H0R5 VAR_054136 p.Arg221Gln LB/B rs4656078 - GBP3 Q9H0R5 VAR_054137 p.Arg225Trp LB/B rs4656077 - GBP3 Q9H0R5 VAR_054138 p.Thr347Ser LB/B rs3188433 - GBP4 Q96PP9 VAR_028283 p.Lys125Glu LB/B rs17130745 - GBP4 Q96PP9 VAR_028284 p.Ile379Val LB/B rs1831240 - GBP4 Q96PP9 VAR_028285 p.Tyr541Asn LB/B rs655260 - GBP4 Q96PP9 VAR_028286 p.Leu549Met LB/B rs608339 - GBP4 Q96PP9 VAR_028287 p.Glu551Lys LB/B rs561037 - GBP4 Q96PP9 VAR_028288 p.Glu551Gly LB/B rs561042 - GBP4 Q96PP9 VAR_033952 p.Met542Ile LB/B rs1142886 - GBP4 Q96PP9 VAR_033953 p.Met545Ile LB/B rs1142889 - GBP4 Q96PP9 VAR_033954 p.Met545Leu LB/B rs1142888 - GBP4 Q96PP9 VAR_033955 p.Glu546Lys LB/B rs1142890 - GBP5 Q96PP8 VAR_033956 p.Thr35Met LB/B rs3806339 - GBP5 Q96PP8 VAR_053104 p.Glu4Gln LB/B rs17130763 - GBP6 Q6ZN66 VAR_037750 p.Thr278Ile LB/B rs4582772 - GBP6 Q6ZN66 VAR_037751 p.Ala331Ser LB/B rs4658359 - GBP6 Q6ZN66 VAR_037752 p.Leu344Phe LB/B rs4658360 - GBP6 Q6ZN66 VAR_037753 p.Met355Val LB/B rs4658146 - GBP6 Q6ZN66 VAR_037754 p.Asp520Val LB/B rs959460 - GBP7 Q8N8V2 VAR_037687 p.Thr14Ile LB/B rs676913 - GBP7 Q8N8V2 VAR_037688 p.Gly618Arg LB/B rs1886297 - GBX1 Q14549 VAR_049579 p.Ala194Thr LB/B rs11975799 - GC P02774 VAR_000548 p.Asp432Glu LB/B rs7041 - GC P02774 VAR_000549 p.Thr436Lys LB/B rs4588 - GC P02774 VAR_014120 p.His445Cys LB/B - - GC P02774 VAR_014121 p.His445Arg LB/B rs9016 - GCA P28676 VAR_048657 p.Ser80Ala LB/B rs17783344 - GCAT O75600 VAR_015094 p.Arg39Cys LB/B rs710187 - GCAT O75600 VAR_048229 p.Ser100Asn LB/B rs34468367 - GCC1 Q96CN9 VAR_020157 p.Cys87Trp LB/B rs2285348 - GCC1 Q96CN9 VAR_021902 p.Arg86Trp LB/B rs17151044 - GCC1 Q96CN9 VAR_049259 p.Ala122Val LB/B rs35322201 - GCC1 Q96CN9 VAR_049260 p.Gln262Arg LB/B rs35390108 - GCC1 Q96CN9 VAR_049261 p.Ala274Thr LB/B rs34887879 - GCC1 Q96CN9 VAR_049262 p.Arg618Cys LB/B rs34883586 - GCC2 Q8IWJ2 VAR_016101 p.Arg1298Gly LB/B rs1061202 - GCC2 Q8IWJ2 VAR_046635 p.Gln1134Glu LB/B rs2718698 - GCDH Q92947 VAR_000366 p.Arg88Cys LP/P rs142967670 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000367 p.Arg94Leu LP/P rs566417795 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000368 p.Gly101Arg LP/P rs1273164833 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000369 p.Cys115Tyr LP/P rs776758971 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000370 p.Ala122Val LP/P rs766325846 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000371 p.Arg128Gly LP/P - Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000372 p.Arg138Gly LP/P rs897036690 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000373 p.Ser139Leu LP/P rs139851890 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000374 p.Val148Ile LP/P rs1003611285 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000375 p.Arg161Gln LP/P rs777201305 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000376 p.Gly178Arg LP/P rs749452002 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000377 p.Leu179Arg LP/P rs774526353 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000378 p.Met191Thr LP/P rs149120354 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000379 p.Ala195Thr LP/P - Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000380 p.Arg227Pro LP/P rs121434373 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000381 p.Phe236Leu LP/P rs747920711 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000382 p.Arg257Gln LP/P rs751583656 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000383 p.Arg257Trp LP/P rs766518430 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000384 p.Met266Val LP/P rs745357523 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000385 p.Pro278Ser LP/P rs751742575 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000386 p.Leu283Pro LP/P - Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000387 p.Ala293Thr LP/P rs121434371 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000388 p.Arg294Trp LP/P - Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000389 p.Tyr295His LP/P rs121434366 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000390 p.Ala298Thr LB/B rs761765983 - GCDH Q92947 VAR_000391 p.Ala298Val LB/B rs764993096 - GCDH Q92947 VAR_000392 p.Ser305Leu LP/P rs1260580183 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000393 p.Cys308Ser LP/P rs1205368991 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000394 p.Leu309Trp LP/P rs1247712895 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000395 p.Arg313Trp LP/P rs779315456 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000396 p.Gln333Glu LP/P rs794726972 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000397 p.Ala349Thr LP/P rs1257292639 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000398 p.Gly354Arg LP/P - Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000399 p.Gly354Ser LP/P rs768925619 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000400 p.Arg355Cys LP/P rs781477694 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000401 p.Arg355His LP/P rs748275416 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000402 p.Glu365Lys LP/P rs121434370 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000403 p.Cys375Arg LP/P rs1348974766 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000404 p.Ala382Thr LP/P rs567564095 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000405 p.Arg383Cys LP/P rs150938052 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000406 p.Arg383His LP/P rs764608975 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000407 p.Arg386Gln LP/P rs398123190 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000408 p.Gly390Arg LP/P rs372983141 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000409 p.Gly390Ala LP/P rs778153326 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000410 p.Asn392Asp LP/P rs1282266790 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000411 p.Val400Met LP/P rs121434372 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000412 p.Arg402Trp LP/P rs121434369 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000413 p.Arg402Gln LP/P rs786204626 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000414 p.His403Arg LP/P - Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000415 p.Asn406Lys LP/P - Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000416 p.Leu407Pro LP/P rs1555751379 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000417 p.Glu414Lys LP/P rs147611168 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000418 p.Thr416Ile LP/P rs121434368 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000419 p.Ala421Thr LP/P rs151201155 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000420 p.Ala421Val LP/P rs121434367 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000421 p.Thr429Met LP/P rs745360675 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000422 p.Ala433Glu LP/P rs933624223 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_060588 p.Met263Val LP/P - Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_071510 p.Glu64Asp LP/P rs1555749239 Glutaric aciduria 1 (GA1) [MIM:231670] GCDH Q92947 VAR_071511 p.Gly268Val LP/P rs765723076 Glutaric aciduria 1 (GA1) [MIM:231670] GCFC2 P16383 VAR_051005 p.Pro32Ala LB/B rs7559767 - GCFC2 P16383 VAR_051006 p.Asn249Ser LB/B rs7560262 - GCFC2 P16383 VAR_051007 p.Gln316Glu LB/B rs6742946 - GCFC2 P16383 VAR_051008 p.Thr594Ala LB/B rs6722682 - GCFC2 P16383 VAR_051009 p.Glu724Asp LB/B rs17690300 - GCG P01275 VAR_014596 p.Ala115Val LB/B rs5650 - GCGR P47871 VAR_003581 p.Gly40Ser LB/B rs1801483 - GCGR P47871 VAR_014837 p.Pro114Ala LB/B rs5385 - GCGR P47871 VAR_033966 p.Phe303Cys LB/B rs5387 - GCGR P47871 VAR_069815 p.Pro86Ser LP/P - Mahvash disease (MVAH) [MIM:619290] GCGR P47871 VAR_085613 p.Asp63Asn LP/P - Mahvash disease (MVAH) [MIM:619290] GCGR P47871 VAR_085614 p.Thr76Met US - - GCGR P47871 VAR_085615 p.Arg225His LP/P - Mahvash disease (MVAH) [MIM:619290] GCGR P47871 VAR_085617 p.Arg336Gln US - - GCGR P47871 VAR_085618 p.Val368Met LP/P - Mahvash disease (MVAH) [MIM:619290] GCGR P47871 VAR_085619 p.Arg414His US - - GCGR P47871 VAR_085620 p.His416Arg US - - GCGR P47871 VAR_085621 p.Arg428Gln US - - GCGR P47871 VAR_085622 p.Ser438Leu US - - GCGR P47871 VAR_085623 p.Asp458His US - - GCGR P47871 VAR_085624 p.Ala461Val US - - GCGR P47871 VAR_085625 p.Pro476Leu US - - GCH1 P30793 VAR_002632 p.Gly15Asp US - - GCH1 P30793 VAR_002633 p.Pro23Leu LP/P rs41298432 Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_002634 p.Leu79Pro LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_002635 p.Arg88Pro LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_002636 p.Arg88Trp LP/P rs104894433 Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_002637 p.Met102Lys LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_002638 p.Asp134Val LP/P rs104894437 Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_002639 p.Cys141Trp LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_002640 p.His144Pro LP/P rs104894440 Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_002641 p.His153Pro LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_002642 p.Arg178Ser LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_002643 p.Arg184His LP/P rs104894445 Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910] GCH1 P30793 VAR_002644 p.Thr186Lys LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_002645 p.Gly201Glu LP/P rs104894438 Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_002646 p.Gly203Arg LP/P rs988395114 Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_002647 p.Met211Ile LP/P rs104894443 Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910] GCH1 P30793 VAR_002648 p.Lys224Arg LP/P rs41298442 Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_002648 p.Lys224Arg LP/P rs41298442 Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910] GCH1 P30793 VAR_002649 p.Phe234Ser LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016888 p.Leu71Gln LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016889 p.Ala74Val LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016890 p.Gly83Ala LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016892 p.Gly90Val LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016893 p.Met102Arg LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016894 p.Gly108Asp LP/P rs104894435 Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910] GCH1 P30793 VAR_016895 p.Asp115Asn LP/P rs1393095176 Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016896 p.Ile135Lys LP/P rs104894441 Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016897 p.Cys141Arg LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016898 p.Leu163Arg LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016899 p.Ser176Thr LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016900 p.Gln180Arg LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016901 p.Val191Ile LP/P rs762208304 Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016902 p.Pro199Leu LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016903 p.Met211Val LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016904 p.Met213Val LP/P rs1348562494 Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016905 p.Met221Thr LP/P rs104894434 Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910] GCH1 P30793 VAR_016906 p.Arg241Trp LP/P rs1375209791 Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_016907 p.Arg249Ser LP/P rs104894442 Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_054112 p.Thr106Ile LP/P - Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1 P30793 VAR_072733 p.Tyr75Cys US - - GCH1 P30793 VAR_072734 p.Ala98Val LB/B - - GCH1 P30793 VAR_072735 p.Ile135Thr LB/B - - GCK P35557 VAR_003692 p.Asp4Asn LB/B rs202091228 - GCK P35557 VAR_003693 p.Glu70Lys LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003694 p.Gly80Ala LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003695 p.Gly80Ser LP/P rs1554335761 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003696 p.Met107Thr LB/B - - GCK P35557 VAR_003697 p.Ser131Pro LP/P rs104894010 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003698 p.Gly175Arg LP/P rs587780344 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003699 p.Val182Met LP/P rs587780345 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003700 p.Ala188Thr LP/P rs751279776 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003701 p.Val203Ala LP/P rs1562717053 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003702 p.Glu221Lys LP/P rs193922317 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003703 p.Val226Met LP/P rs148311934 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003704 p.Gly227Cys LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003705 p.Thr228Met LP/P rs80356655 Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176] GCK P35557 VAR_003705 p.Thr228Met LP/P rs80356655 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003706 p.Glu256Lys LP/P rs769268803 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003707 p.Trp257Arg LP/P rs1554335135 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003708 p.Gly261Arg LP/P rs104894008 Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176] GCK P35557 VAR_003708 p.Gly261Arg LP/P rs104894008 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003709 p.Glu279Gln LP/P rs104894005 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003710 p.Gly299Arg LP/P rs104894009 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003711 p.Glu300Gln LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003712 p.Glu300Lys LP/P rs1255911887 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003713 p.Leu309Pro LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003714 p.Lys414Glu LP/P rs193922272 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_003715 p.Val455Met LP/P rs104894012 Hyperinsulinemic hypoglycemia, familial, 3 (HHF3) [MIM:602485] GCK P35557 VAR_010583 p.Ala11Thr LB/B rs116093166 - GCK P35557 VAR_010584 p.Arg36Trp LP/P rs762263694 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_010585 p.Ala53Ser LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_010586 p.Tyr108His LP/P rs193922292 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_010587 p.His137Arg LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_010588 p.Phe150Ser LP/P rs193922297 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_010589 p.Thr168Pro LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_010590 p.Thr209Met LP/P rs1583599303 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_010591 p.Met210Thr LP/P rs80356654 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_010592 p.Cys213Arg LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_010593 p.Ala259Thr LP/P rs1375656631 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_010594 p.Gly261Glu LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_010595 p.Ser336Leu LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_010596 p.Val367Met LP/P rs1057521092 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_010597 p.Cys382Tyr LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_010598 p.Ala384Thr LP/P rs1376620210 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_010599 p.Arg392Cys LP/P rs1167124132 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_012350 p.Leu164Pro LP/P rs2096278847 Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176] GCK P35557 VAR_012350 p.Leu164Pro LP/P rs2096278847 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_012351 p.Met210Lys LP/P rs80356654 Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176] GCK P35557 VAR_012351 p.Met210Lys LP/P rs80356654 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_012352 p.Ile110Thr LP/P rs1338970607 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_012353 p.Ala119Asp LP/P rs1176659689 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_012354 p.Gly385Val LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_066615 p.Thr342Pro LB/B rs1000236360 - GCK P35557 VAR_075220 p.Arg43His US rs764232985 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_075221 p.Gly68Asp US rs373418736 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_075222 p.Asp217Asn LP/P rs147065275 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_075223 p.Ile225Met LP/P rs772754004 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_075224 p.Glu248Lys LP/P rs759421263 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_078243 p.Thr65Ile LP/P - Hyperinsulinemic hypoglycemia, familial, 3 (HHF3) [MIM:602485] GCK P35557 VAR_078244 p.Val91Leu LP/P - Hyperinsulinemic hypoglycemia, familial, 3 (HHF3) [MIM:602485] GCK P35557 VAR_078245 p.Trp99Cys LP/P - Hyperinsulinemic hypoglycemia, familial, 3 (HHF3) [MIM:602485] GCK P35557 VAR_078246 p.Cys129Tyr LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_078247 p.Phe152Leu US rs2096280050 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_078248 p.Ala188Val LP/P rs193922307 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_078249 p.Arg191Trp LP/P rs1085307455 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_078250 p.Met202Arg LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_078251 p.Gly223Ser LP/P rs1360415315 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_078252 p.Asn231His US - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_078253 p.Leu315Phe US rs1583594350 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_078254 p.Ala378Thr LP/P rs104894016 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_078255 p.Cys434Phe US - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_078256 p.Ser441Trp LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_078257 p.Glu442Lys LP/P rs758737171 Hyperinsulinemic hypoglycemia, familial, 3 (HHF3) [MIM:602485] GCK P35557 VAR_078258 p.Arg447Gln LP/P rs1131691416 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079430 p.Val16Glu LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079431 p.Ile19Asn LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079432 p.Leu20Pro LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079433 p.Glu40Lys LP/P rs794727236 Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176] GCK P35557 VAR_079434 p.Arg43Cys LP/P rs1486280029 Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176] GCK P35557 VAR_079435 p.Arg43Ser LP/P rs1486280029 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079436 p.Gly44Ser LP/P rs267601516 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079437 p.His50Asp LP/P - Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176] GCK P35557 VAR_079439 p.Tyr61Ser LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079440 p.Gly72Arg LP/P rs193922289 Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176] GCK P35557 VAR_079440 p.Gly72Arg LP/P rs193922289 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079441 p.Leu77Pro LP/P rs2096281827 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079442 p.Asp78Glu LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079443 p.Gly80Asp LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079444 p.Thr82Ile LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079445 p.Thr116Pro LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079446 p.Ser151Thr LP/P - Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176] GCK P35557 VAR_079447 p.Asp160Asn LP/P rs1554335566 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079448 p.Thr168Ala LP/P - Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176] GCK P35557 VAR_079449 p.Lys169Arg LP/P - Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176] GCK P35557 VAR_079450 p.Val182Leu LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079452 p.Asp187Tyr LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079453 p.Val200Leu LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079454 p.Met202Thr LP/P rs193922311 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079455 p.Thr206Met LP/P rs1441649062 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079456 p.Tyr214Cys LP/P rs104894015 Hyperinsulinemic hypoglycemia, familial, 3 (HHF3) [MIM:602485] GCK P35557 VAR_079457 p.Met224Arg LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079458 p.Gly227Ser LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079459 p.Cys233Arg LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079461 p.Cys252Gly LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079462 p.Thr255Ala LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079463 p.Glu265Lys LP/P rs104894011 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079464 p.Met298Lys LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079465 p.Arg308Trp LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079466 p.Arg377His LP/P rs193922264 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079467 p.Ala379Val LP/P rs193922265 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079468 p.Ser383Leu LP/P rs777870079 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079469 p.Met393Thr LP/P rs2096271425 Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176] GCK P35557 VAR_079470 p.Arg397Leu LP/P rs193929375 Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176] GCK P35557 VAR_079472 p.Ser411Phe LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079473 p.His416Pro LP/P rs1583591303 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079474 p.Lys420Glu LP/P - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] GCK P35557 VAR_079475 p.Ser441Leu LP/P rs1286804191 Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176] GCK P35557 VAR_079476 p.Ala449Thr LP/P rs193922282 Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176] GCK P35557 VAR_079477 p.Ala456Val LP/P rs104894014 Hyperinsulinemic hypoglycemia, familial, 3 (HHF3) [MIM:602485] GCKR Q14397 VAR_008906 p.Pro446Leu LB/B rs1260326 - GCKR Q14397 VAR_018849 p.Glu77Gly LB/B rs8179206 - GCKR Q14397 VAR_018850 p.Gly256Ser LB/B rs8179212 - GCKR Q14397 VAR_018851 p.Arg540Gln LB/B rs8179249 - GCLC P48506 VAR_013514 p.His370Leu LP/P rs121907946 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) [MIM:230450] GCLC P48506 VAR_014884 p.Leu55Ser LB/B rs2066512 - GCLC P48506 VAR_015403 p.Pro158Leu LP/P - Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) [MIM:230450] GCLC P48506 VAR_021100 p.Pro462Ser LB/B rs17883718 - GCLC P48506 VAR_021110 p.Arg127Cys LP/P rs760031222 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) [MIM:230450] GCLM P48507 VAR_021063 p.Ile209Met LB/B rs17880087 - GCM2 O75603 VAR_049130 p.Asp53Asn LB/B rs11963186 - GCM2 O75603 VAR_049131 p.Ala117Val LB/B rs35786951 - GCM2 O75603 VAR_049132 p.Gly203Ser LB/B rs7744163 - GCM2 O75603 VAR_049133 p.Ile227Val LB/B rs35395043 - GCM2 O75603 VAR_058044 p.Arg47Leu LP/P rs104893959 Hypoparathyroidism, familial isolated, 2 (FIH2) [MIM:618883] GCM2 O75603 VAR_058045 p.Gly63Ser LP/P rs104893960 Hypoparathyroidism, familial isolated, 2 (FIH2) [MIM:618883] GCM2 O75603 VAR_065495 p.Arg110Trp LP/P rs780594439 Hypoparathyroidism, familial isolated, 2 (FIH2) [MIM:618883] GCM2 O75603 VAR_065496 p.Tyr282Asp LB/B rs61734277 - GCM2 O75603 VAR_065497 p.Val382Met US rs371918069 Hyperparathyroidism 4 (HRPT4) [MIM:617343] GCM2 O75603 VAR_065498 p.Asn502His LP/P rs533942394 Hypoparathyroidism, familial isolated, 2 (FIH2) [MIM:618883] GCM2 O75603 VAR_078579 p.Gln251Glu LP/P rs1057519581 Hyperparathyroidism 4 (HRPT4) [MIM:617343] GCM2 O75603 VAR_078580 p.Asn315Asp LB/B rs114070356 - GCM2 O75603 VAR_078581 p.Leu379Gln LP/P rs1057519582 Hyperparathyroidism 4 (HRPT4) [MIM:617343] GCM2 O75603 VAR_078582 p.Tyr394Ser LP/P rs142287570 Hyperparathyroidism 4 (HRPT4) [MIM:617343] GCN1 Q92616 VAR_062228 p.Asp2155Tyr LB/B rs3864938 - GCNA Q96QF7 VAR_038520 p.Thr662Ile LB/B rs2280962 - GCNA Q96QF7 VAR_050634 p.Arg471His LB/B rs10217999 - GCNA Q96QF7 VAR_085476 p.Asp17Asn US rs746349614 Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077] GCNA Q96QF7 VAR_085477 p.Val76Met US rs200457016 Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077] GCNA Q96QF7 VAR_085478 p.Ser102Arg US - Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077] GCNA Q96QF7 VAR_085479 p.Asn182Lys US rs766534592 Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077] GCNA Q96QF7 VAR_085480 p.Pro189Ser US rs143368028 Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077] GCNA Q96QF7 VAR_085481 p.Lys218Asn US rs141229655 Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077] GCNA Q96QF7 VAR_085482 p.Lys218Ser US - Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077] GCNA Q96QF7 VAR_085483 p.Ser285Pro US rs199853865 Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077] GCNA Q96QF7 VAR_085484 p.Ser295Pro US rs761086272 Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077] GCNA Q96QF7 VAR_085486 p.Arg441Ser US rs144602884 Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077] GCNA Q96QF7 VAR_085487 p.Thr465Ile US rs776093985 Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077] GCNA Q96QF7 VAR_085488 p.Gly545Ser US - Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077] GCNA Q96QF7 VAR_085489 p.Ser659Trp US rs756204489 Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077] GCNA Q96QF7 VAR_085490 p.Arg664Cys US rs138927483 Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077] GCNA Q96QF7 VAR_085491 p.Arg686Cys US rs376298923 Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077] GCNT1 Q02742 VAR_048000 p.Ile152Val LB/B rs2282683 - GCNT1 Q02742 VAR_048001 p.Ser158Cys LB/B rs11546569 - GCNT2 Q8N0V5 VAR_073827 p.Ala169Thr LB/B rs137853339 - GCNT2 Q8N0V5 VAR_073828 p.Arg228Gln LB/B rs137853340 - GCNT2 Q8N0V5 VAR_073829 p.Gly350Glu US rs56141211 Cataract 13, with adult i phenotype (CTRCT13) [MIM:116700] GCNT2 Q8N0V5 VAR_073830 p.Arg385His US rs55940927 Cataract 13, with adult i phenotype (CTRCT13) [MIM:116700] GCNT2 Q8N0V5 VAR_084818 p.Phe364Ser US - Cataract 13, with adult i phenotype (CTRCT13) [MIM:116700] GCNT4 Q9P109 VAR_032444 p.Val321Ile LB/B rs4704166 - GCNT4 Q9P109 VAR_032445 p.Pro439Ser LB/B rs3811987 - GCNT4 Q9P109 VAR_061210 p.Val321Leu LB/B rs4704166 - GCNT7 Q6ZNI0 VAR_059315 p.Asn425His LB/B rs3746627 - GCNT7 Q6ZNI0 VAR_061211 p.Asp352Glu LB/B rs34552628 - GCSH P23434 VAR_018846 p.Ser21Leu LB/B rs8052579 - GCSH P23434 VAR_018847 p.Asn73Ser LB/B rs8177877 - GCSH P23434 VAR_088577 p.His57Arg US - Multiple mitochondrial dysfunctions syndrome 7 (MMDS7) [MIM:620423] GCSH P23434 VAR_088579 p.Pro115Leu US - Multiple mitochondrial dysfunctions syndrome 7 (MMDS7) [MIM:620423] GCSH P23434 VAR_088580 p.Thr148Pro US - Multiple mitochondrial dysfunctions syndrome 7 (MMDS7) [MIM:620423] GDAP1 Q8TB36 VAR_017184 p.Arg120Gln LP/P rs1174933176 Charcot-Marie-Tooth disease 4A (CMT4A) [MIM:214400] GDAP1 Q8TB36 VAR_017185 p.Arg161His LP/P rs104894076 Charcot-Marie-Tooth disease 4A (CMT4A) [MIM:214400] GDAP1 Q8TB36 VAR_017186 p.Arg282Cys LP/P rs28937906 Charcot-Marie-Tooth disease, recessive intermediate A (CMTRIA) [MIM:608340] GDAP1 Q8TB36 VAR_017187 p.Arg310Gln LP/P rs1323153568 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV) [MIM:607706] GDAP1 Q8TB36 VAR_067086 p.His256Arg LP/P rs1476856429 Charcot-Marie-Tooth disease, axonal, 2K (CMT2K) [MIM:607831] GDAP1 Q8TB36 VAR_067087 p.Arg282His LP/P rs375431837 Charcot-Marie-Tooth disease, axonal, 2K (CMT2K) [MIM:607831] GDAP1 Q8TB36 VAR_073297 p.Lys39Asn US rs1586794314 - GDAP1 Q8TB36 VAR_078265 p.Arg120Gly LP/P rs104894078 Charcot-Marie-Tooth disease, axonal, 2K (CMT2K) [MIM:607831] GDAP1 Q8TB36 VAR_078266 p.Arg120Trp LP/P rs104894078 Charcot-Marie-Tooth disease, axonal, 2K (CMT2K) [MIM:607831] GDAP1 Q8TB36 VAR_078267 p.His123Arg LP/P rs397515442 Charcot-Marie-Tooth disease, axonal, 2K (CMT2K) [MIM:607831] GDAP1 Q8TB36 VAR_078268 p.Glu126Lys US rs879254005 Charcot-Marie-Tooth disease, axonal, 2K (CMT2K) [MIM:607831] GDAP1 Q8TB36 VAR_078269 p.Ala156Gly LP/P rs397515441 Charcot-Marie-Tooth disease, axonal, 2K (CMT2K) [MIM:607831] GDAP1 Q8TB36 VAR_078270 p.Gln218Glu US rs121908113 Charcot-Marie-Tooth disease, axonal, 2K (CMT2K) [MIM:607831] GDAP1 Q8TB36 VAR_078271 p.Arg226Ser US rs267606842 Charcot-Marie-Tooth disease, axonal, 2K (CMT2K) [MIM:607831] GDAP1 Q8TB36 VAR_078272 p.Ala247Val US rs1586807209 Charcot-Marie-Tooth disease, axonal, 2K (CMT2K) [MIM:607831] GDAP1 Q8TB36 VAR_078273 p.Arg310Trp LP/P rs538389475 Charcot-Marie-Tooth disease, axonal, 2K (CMT2K) [MIM:607831] GDAP1L1 Q96MZ0 VAR_036556 p.Arg141Trp US rs754794599 A colorectal cancer sample GDAP2 Q9NXN4 VAR_042843 p.Pro95Arg LB/B rs12752437 - GDAP2 Q9NXN4 VAR_042844 p.Gly106Ser LB/B rs12753610 - GDAP2 Q9NXN4 VAR_042845 p.Gln312Pro LB/B rs12145577 - GDAP2 Q9NXN4 VAR_042846 p.Thr489Ala LB/B rs34924570 - GDE1 Q9NZC3 VAR_044018 p.Arg218Gln LB/B rs2072086 - GDE1 Q9NZC3 VAR_044019 p.Glu328Lys LB/B rs34137361 - GDF1 P27539 VAR_028274 p.Ala118Val LB/B rs4808863 - GDF1 P27539 VAR_065332 p.Arg68His US rs763822282 - GDF1 P27539 VAR_065333 p.Gly162Asp LP/P rs121434424 Tetralogy of Fallot (TOF) [MIM:187500] GDF1 P27539 VAR_065334 p.Gly262Ser US - - GDF1 P27539 VAR_065335 p.Cys267Tyr LP/P rs121434423 Conotruncal heart malformations (CTHM) [MIM:217095] GDF1 P27539 VAR_065336 p.Ser309Pro LP/P rs864622513 Tetralogy of Fallot (TOF) [MIM:187500] GDF1 P27539 VAR_065337 p.Pro312Thr LP/P - Tetralogy of Fallot (TOF) [MIM:187500] GDF1 P27539 VAR_065338 p.Ala318Thr LP/P rs1064793138 Congenital heart defects, multiple types, 6 (CHTD6) [MIM:613854] GDF1 P27539 VAR_080780 p.Met364Thr LP/P rs374016704 Congenital heart defects, multiple types, 6 (CHTD6) [MIM:613854] GDF11 O95390 VAR_085163 p.Arg298Gln LP/P rs1878258280 Vertebral hypersegmentation and orofacial anomalies (VHO) [MIM:619122] GDF15 Q99988 VAR_010386 p.Ser48Thr LB/B rs1059369 - GDF15 Q99988 VAR_047646 p.Val9Leu LB/B rs1059519 - GDF15 Q99988 VAR_047647 p.His202Asp LB/B rs1058587 - GDF2 Q9UK05 VAR_070689 p.Arg68Leu LP/P rs200330818 Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506] GDF2 Q9UK05 VAR_070690 p.Pro85Leu LP/P rs199804679 Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506] GDF2 Q9UK05 VAR_070691 p.Arg333Trp LP/P rs35129734 Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506] GDF3 Q9NR23 VAR_020064 p.Val328Leu LB/B rs2302516 - GDF3 Q9NR23 VAR_052574 p.Gly213Arg LB/B rs12819884 - GDF3 Q9NR23 VAR_065147 p.Arg195Gln LP/P rs146973734 Microphthalmia, isolated, 7 (MCOP7) [MIM:613704] GDF3 Q9NR23 VAR_065148 p.Arg266Cys LP/P rs140926412 Klippel-Feil syndrome 3, autosomal dominant (KFS3) [MIM:613702] GDF3 Q9NR23 VAR_065148 p.Arg266Cys LP/P rs140926412 Microphthalmia, isolated, with coloboma, 6 (MCOPCB6) [MIM:613703] GDF3 Q9NR23 VAR_065149 p.Arg274Trp LP/P rs387906946 Microphthalmia, isolated, with coloboma, 6 (MCOPCB6) [MIM:613703] GDF3 Q9NR23 VAR_065150 p.Leu305Pro LP/P rs387906945 Microphthalmia, isolated, 7 (MCOP7) [MIM:613704] GDF5 P43026 VAR_017407 p.Cys400Tyr LP/P rs74315387 Acromesomelic dysplasia 2A (AMD2A) [MIM:200700] GDF5 P43026 VAR_017408 p.Leu441Pro LP/P rs28936683 Acromesomelic dysplasia 2B (AMD2B) [MIM:228900] GDF5 P43026 VAR_017408 p.Leu441Pro LP/P rs28936683 Brachydactyly A2 (BDA2) [MIM:112600] GDF5 P43026 VAR_017408 p.Leu441Pro LP/P rs28936683 Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] GDF5 P43026 VAR_026120 p.Ala276Ser LB/B rs224331 - GDF5 P43026 VAR_026545 p.Arg438Leu LP/P rs74315388 Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] GDF5 P43026 VAR_026545 p.Arg438Leu LP/P rs74315388 Symphalangism, proximal 1B (SYM1B) [MIM:615298] GDF5 P43026 VAR_037977 p.Arg163Gly LB/B rs34534075 - GDF5 P43026 VAR_037978 p.Met173Val LP/P rs28936397 Brachydactyly C (BDC) [MIM:113100] GDF5 P43026 VAR_037980 p.Ser439Thr LP/P - Acromesomelic dysplasia 2B (AMD2B) [MIM:228900] GDF5 P43026 VAR_037981 p.His440Leu LP/P - Acromesomelic dysplasia 2B (AMD2B) [MIM:228900] GDF5 P43026 VAR_037982 p.Ser475Asn LP/P rs121909347 Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] GDF5 P43026 VAR_037983 p.Glu491Lys LP/P rs74315389 Symphalangism, proximal 1B (SYM1B) [MIM:615298] GDF5 P43026 VAR_046743 p.Arg380Gln LP/P rs397514668 Brachydactyly A2 (BDA2) [MIM:112600] GDF5 P43026 VAR_054909 p.Leu373Arg LP/P rs121909349 Symphalangism, proximal 1B (SYM1B) [MIM:615298] GDF5 P43026 VAR_054910 p.Arg378Gln LP/P rs121909350 Acromesomelic dysplasia 2B (AMD2B) [MIM:228900] GDF5 P43026 VAR_054911 p.Pro436Thr LP/P rs121909351 Acromesomelic dysplasia 2B (AMD2B) [MIM:228900] GDF5 P43026 VAR_064416 p.Arg399Cys LP/P rs397514519 Brachydactyly A1, C (BDA1C) [MIM:615072] GDF5 P43026 VAR_073139 p.Thr201Pro LP/P - Brachydactyly C (BDC) [MIM:113100] GDF5 P43026 VAR_073140 p.Leu263Pro LP/P - Brachydactyly C (BDC) [MIM:113100] GDF5 P43026 VAR_073141 p.Trp414Arg LP/P - Brachydactyly A1, C (BDA1C) [MIM:615072] GDF5 P43026 VAR_073141 p.Trp414Arg LP/P - Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] GDF5 P43026 VAR_073142 p.Asn445Lys LP/P - Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] GDF5 P43026 VAR_073143 p.Asn445Thr LP/P - Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] GDF5 P43026 VAR_074161 p.Thr203Asn LP/P - Brachydactyly C (BDC) [MIM:113100] GDF5 P43026 VAR_074162 p.Val486Met LP/P - Brachydactyly C (BDC) [MIM:113100] GDF6 Q6KF10 VAR_023599 p.Lys110Glu LB/B rs2245091 - GDF6 Q6KF10 VAR_046903 p.Ala249Glu LP/P rs121909352 Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100] GDF6 Q6KF10 VAR_046903 p.Ala249Glu LP/P rs121909352 Leber congenital amaurosis 17 (LCA17) [MIM:615360] GDF6 Q6KF10 VAR_046903 p.Ala249Glu LP/P rs121909352 Microphthalmia, isolated, 4 (MCOP4) [MIM:613094] GDF6 Q6KF10 VAR_046904 p.Leu289Pro LP/P rs63751220 Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100] GDF6 Q6KF10 VAR_063024 p.Gly42Val LP/P rs121909354 Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100] GDF6 Q6KF10 VAR_063025 p.Gln119Arg LP/P rs140579014 Microphthalmia, isolated, 4 (MCOP4) [MIM:613094] GDF6 Q6KF10 VAR_063026 p.Asp216Gly LP/P - Microphthalmia, isolated, 4 (MCOP4) [MIM:613094] GDF6 Q6KF10 VAR_063027 p.Gln253Leu LP/P rs121909355 Microphthalmia, isolated, 4 (MCOP4) [MIM:613094] GDF6 Q6KF10 VAR_063028 p.Pro327His LP/P rs121909356 Microphthalmia, isolated, 4 (MCOP4) [MIM:613094] GDF6 Q6KF10 VAR_063029 p.Lys424Arg LP/P rs121909353 Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100] GDF6 Q6KF10 VAR_065151 p.Ala199Thr LP/P rs387906794 Leber congenital amaurosis 17 (LCA17) [MIM:615360] GDF6 Q6KF10 VAR_070254 p.Asp57His LP/P rs397514725 Leber congenital amaurosis 17 (LCA17) [MIM:615360] GDF6 Q6KF10 VAR_070255 p.Glu292Asp LP/P rs1401531865 Leber congenital amaurosis 17 (LCA17) [MIM:615360] GDF6 Q6KF10 VAR_075366 p.Tyr444Asn LP/P rs1554571213 Multiple synostoses syndrome 4 (SYNS4) [MIM:617898] GDF6 Q6KF10 VAR_080489 p.Ser429Arg US rs1554571225 Multiple synostoses syndrome 4 (SYNS4) [MIM:617898] GDF9 O60383 VAR_058945 p.Lys67Glu US - Premature ovarian failure 14 (POF14) [MIM:618014] GDF9 O60383 VAR_058946 p.Ser186Tyr US - Premature ovarian failure 14 (POF14) [MIM:618014] GDF9 O60383 VAR_058947 p.Val216Met US rs1205723048 Premature ovarian failure 14 (POF14) [MIM:618014] GDF9 O60383 VAR_066934 p.Asp57Tyr US rs138136756 Premature ovarian failure 14 (POF14) [MIM:618014] GDF9 O60383 VAR_066935 p.Pro103Ser US rs61754583 Premature ovarian failure 14 (POF14) [MIM:618014] GDF9 O60383 VAR_066936 p.Thr121Ile LB/B rs149821575 - GDF9 O60383 VAR_066937 p.Arg146Cys US rs76349024 Premature ovarian failure 14 (POF14) [MIM:618014] GDF9 O60383 VAR_066938 p.Thr238Ala US - Premature ovarian failure 14 (POF14) [MIM:618014] GDF9 O60383 VAR_066939 p.Pro374Leu LB/B rs373477788 - GDF9 O60383 VAR_066940 p.Ser428Thr US rs118080183 Premature ovarian failure 14 (POF14) [MIM:618014] GDF9 O60383 VAR_066941 p.Arg454Cys LB/B rs61754582 - GDI1 P31150 VAR_008130 p.Leu92Pro LP/P rs121434607 Intellectual developmental disorder, X-linked 41 (XLID41) [MIM:300849] GDI1 P31150 VAR_008131 p.Arg423Pro LP/P rs121434609 Intellectual developmental disorder, X-linked 41 (XLID41) [MIM:300849] GDNF P39905 VAR_009494 p.Pro21Ser US rs777451569 Hirschsprung disease 3 (HSCR3) [MIM:613711] GDNF P39905 VAR_009495 p.Arg93Trp LB/B rs36119840 - GDNF P39905 VAR_009496 p.Asp150Asn LB/B rs76466003 - GDNF P39905 VAR_009497 p.Thr154Ser LP/P rs104893891 Hirschsprung disease 3 (HSCR3) [MIM:613711] GDNF P39905 VAR_018152 p.Ile211Met LP/P rs121918536 Hirschsprung disease 3 (HSCR3) [MIM:613711] GDPD4 Q6W3E5 VAR_055872 p.Lys220Arg LB/B rs2729772 - GDPD4 Q6W3E5 VAR_055873 p.His383Tyr LB/B rs11237146 - GDPD4 Q6W3E5 VAR_055874 p.Ile390Val LB/B rs11237145 - GDPD4 Q6W3E5 VAR_064764 p.Asn396Lys LB/B - - GDPD5 Q8WTR4 VAR_027733 p.Ala480Thr LB/B rs571353 - GDPGP1 Q6ZNW5 VAR_043555 p.Met37Thr LB/B rs7171194 - GDPGP1 Q6ZNW5 VAR_043556 p.Pro264Thr LB/B rs10152994 - GDPGP1 Q6ZNW5 VAR_043557 p.Thr307Ile LB/B rs10153004 - GEM P55040 VAR_020097 p.Arg43Gly LB/B rs2170363 - GEMIN4 P57678 VAR_020390 p.Arg1033Cys LB/B rs7813 - GEMIN4 P57678 VAR_021971 p.Arg684Gln LB/B rs3744741 - GEMIN4 P57678 VAR_024317 p.Ala579Gly LB/B rs910925 - GEMIN4 P57678 VAR_056891 p.Phe182Leu LB/B rs34604548 - GEMIN4 P57678 VAR_056892 p.Ile502Val LB/B rs34616851 - GEMIN4 P57678 VAR_056893 p.Ile739Thr LB/B rs1062923 - GEMIN4 P57678 VAR_056894 p.Pro749Leu LB/B rs8078660 - GEMIN4 P57678 VAR_056895 p.Phe782Leu LB/B rs34452716 - GEMIN4 P57678 VAR_056896 p.Val824Phe LB/B rs34936176 - GEMIN4 P57678 VAR_056897 p.Val913Ile LB/B rs34610323 - GEMIN4 P57678 VAR_080610 p.Trp818Arg US rs730882219 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (NEDMCR) [MIM:617913] GEMIN4 P57678 VAR_082144 p.Pro105Leu US - Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (NEDMCR) [MIM:617913] GEMIN5 Q8TEQ6 VAR_033807 p.Arg682Gln LB/B rs1974777 - GEMIN5 Q8TEQ6 VAR_057604 p.Pro1155Ser LB/B rs6865950 - GEMIN5 Q8TEQ6 VAR_085836 p.Ser73Pro US - Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085838 p.His105Arg US - Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085839 p.His162Arg US rs1333297702 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085840 p.Asp210Tyr US - Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085843 p.Val611Met US rs374532509 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085844 p.Asp704Glu US - Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085845 p.His913Arg LP/P - Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085846 p.His923Pro US - Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085847 p.Leu925Phe US - Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085848 p.Tyr958His US - Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085849 p.Ile988Phe LP/P rs760029026 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085850 p.Ser1000Pro US - Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085851 p.Ala1007Thr US - Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085852 p.Asp1019Glu US - Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085853 p.Leu1068Pro LP/P rs371174241 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085854 p.Leu1119Ser US - Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085855 p.Tyr1282His US rs748292248 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085856 p.Tyr1286Cys LP/P rs780303963 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085857 p.Tyr1286Asn LP/P - Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085858 p.His1364Pro US - Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN5 Q8TEQ6 VAR_085859 p.Leu1367Pro US rs200680023 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) [MIM:619333] GEMIN6 Q8WXD5 VAR_020391 p.Gly140Asp LB/B rs1056104 - GEMIN8 Q9NWZ8 VAR_051011 p.Glu195Val LB/B rs3747421 - GEN1 Q17RS7 VAR_037844 p.Ser92Thr LB/B rs1812152 - GEN1 Q17RS7 VAR_037845 p.Asn143Ser LB/B rs16981869 - GEN1 Q17RS7 VAR_037846 p.Ile203Val LB/B rs10177628 - GEN1 Q17RS7 VAR_037847 p.Arg275Leu US - A breast cancer sample GEN1 Q17RS7 VAR_037848 p.Ser310Asn LB/B rs300175 - GEN1 Q17RS7 VAR_037849 p.Thr680Ile LB/B rs300169 - GEN1 Q17RS7 VAR_037850 p.Arg898Cys LB/B rs17315702 - GEN1 Q17RS7 VAR_064715 p.Cys766Arg US - - GET1 O00258 VAR_051491 p.Val110Ile LB/B rs35946782 - GET3 O43681 VAR_018844 p.Asn332Ser LB/B rs8177499 - GET3 O43681 VAR_088104 p.Val163Ala LP/P - Cardiomyopathy, dilated, 2H (CMD2H) [MIM:620203] GET3 O43681 VAR_088105 p.Cys289Trp LP/P - Cardiomyopathy, dilated, 2H (CMD2H) [MIM:620203] GET4 Q7L5D6 VAR_088084 p.Arg122His US rs1268790820 Congenital disorder of glycosylation 2Y (CDG2Y) [MIM:620200] GET4 Q7L5D6 VAR_088085 p.Ile279Met US rs1844404490 Congenital disorder of glycosylation 2Y (CDG2Y) [MIM:620200] GFAP P14136 VAR_017464 p.Pro47Leu LB/B rs57474185 - GFAP P14136 VAR_017465 p.Leu76Phe LP/P rs57120761 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_017466 p.Asn77Tyr LP/P rs58732244 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_017467 p.Arg79Cys LP/P rs59793293 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_017468 p.Arg79His LP/P rs59285727 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_017469 p.Arg88Cys LP/P rs61622935 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_017470 p.Arg88Ser LP/P rs61622935 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_017471 p.Arg239Cys LP/P rs58064122 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_017472 p.Arg239His LP/P rs59565950 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_017473 p.Ala244Val US rs61497286 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_017474 p.Arg258Pro LP/P rs61726468 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_017475 p.Glu362Asp LP/P rs121909718 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_017476 p.Arg416Trp LP/P rs121909717 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_017477 p.Asp78Glu LP/P rs121909720 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_017478 p.Glu223Gln LB/B rs56679084 - GFAP P14136 VAR_017479 p.Asp295Asn LB/B rs1126642 - GFAP P14136 VAR_071517 p.Lys63Gln LP/P rs60095124 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071518 p.Arg66Gln LP/P rs797044569 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071519 p.Arg70Gln LP/P rs267607510 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071520 p.Arg70Trp LP/P rs60343255 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071521 p.Glu72Lys LP/P rs267607523 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071522 p.Met73Lys LP/P rs61060395 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071523 p.Met73Arg LP/P rs61060395 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071524 p.Met73Thr LP/P rs61060395 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071525 p.Met74Thr LP/P rs267607504 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071526 p.Leu76Val LP/P rs57120761 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071527 p.Asn77Lys LP/P - Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071528 p.Asn77Ser LP/P rs57590980 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071529 p.Asp78Asn LP/P rs797044571 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071530 p.Arg79Gly LP/P rs59793293 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071531 p.Arg79Leu LP/P rs59285727 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071532 p.Arg79Pro LP/P rs59285727 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071533 p.Tyr83His LP/P rs267607506 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071534 p.Lys86Glu LP/P rs797044573 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071535 p.Leu90Pro LP/P rs59661476 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071536 p.Leu97Pro LP/P rs59568967 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071537 p.Leu101Pro LP/P rs267607516 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071538 p.Val115Ile LB/B rs56746197 - GFAP P14136 VAR_071539 p.Asp157Asn LB/B rs59291670 - GFAP P14136 VAR_071540 p.Glu207Lys LP/P rs267607500 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071541 p.Glu207Gln LP/P rs267607500 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071542 p.Glu210Lys LP/P rs57661783 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071543 p.Leu235Pro LP/P rs60269890 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071544 p.Lys236Thr LP/P rs267607525 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071545 p.Arg239Leu LP/P rs59565950 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071546 p.Arg239Pro LP/P rs59565950 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071547 p.Tyr242Asp LP/P rs60551555 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071548 p.Ala253Gly LP/P rs61726470 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071549 p.Tyr257Cys LP/P rs267607505 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071550 p.Ala267Pro LP/P rs797044581 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071551 p.Arg276Leu LP/P rs121909719 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071552 p.Lys279Glu LP/P rs58536923 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071553 p.Arg330Gly LP/P rs267607513 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071554 p.Glu332Lys LP/P rs267607514 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071555 p.Leu352Pro LP/P rs28932769 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071556 p.Leu359Pro LP/P rs267607511 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071557 p.Leu359Val LP/P rs60825166 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071558 p.Ala364Pro LP/P rs58645997 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071559 p.Tyr366His LP/P rs58008462 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071560 p.Glu371Gln LP/P rs267607526 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071561 p.Glu371Val LP/P rs57815192 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071562 p.Glu373Asp LP/P - Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071563 p.Glu373Lys LP/P rs58075601 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071564 p.Glu373Gln LP/P rs58075601 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071565 p.Glu374Gly LP/P rs59628143 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071566 p.Glu374Gln LP/P - Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071567 p.Arg376Gly LP/P rs267607512 Alexander disease (ALXDRD) [MIM:203450] GFAP P14136 VAR_071568 p.Ser385Phe LP/P rs797044590 Alexander disease (ALXDRD) [MIM:203450] GFER P55789 VAR_061994 p.Phe166Leu LB/B rs36041021 - GFER P55789 VAR_063435 p.Arg194His LP/P rs121908192 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCD) [MIM:613076] GFI1 Q99684 VAR_016212 p.Asn382Ser LP/P rs28936381 Neutropenia, severe congenital 2, autosomal dominant (SCN2) [MIM:613107] GFI1 Q99684 VAR_016213 p.Lys403Arg LP/P rs28936382 Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA) [MIM:607847] GFI1 Q99684 VAR_052722 p.Ser36Asn LB/B rs34631763 - GFI1B Q5VTD9 VAR_035556 p.Arg231His US rs761044764 A colorectal cancer sample GFM1 Q96RP9 VAR_021512 p.Asn174Ser LP/P rs119470018 Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060] GFM1 Q96RP9 VAR_028303 p.Val215Ile LB/B rs2303909 - GFM1 Q96RP9 VAR_031901 p.Met496Arg LP/P rs119470020 Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060] GFM1 Q96RP9 VAR_076197 p.Ser57Tyr LP/P rs1254972325 Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060] GFM1 Q96RP9 VAR_076198 p.Arg250Trp LP/P rs139430866 Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060] GFM2 Q969S9 VAR_053983 p.Asn64Ser LB/B rs957680 - GFM2 Q969S9 VAR_053984 p.Ser300Cys LB/B rs16872235 - GFM2 Q969S9 VAR_053985 p.Arg774Gln LB/B rs1048167 - GFM2 Q969S9 VAR_060200 p.Pro425His LB/B rs17852780 - GFM2 Q969S9 VAR_060201 p.Glu594Gly LB/B rs17856872 - GFM2 Q969S9 VAR_060202 p.Glu735Gly LB/B rs17856871 - GFM2 Q969S9 VAR_082193 p.Tyr92Ser LP/P rs1554042187 Combined oxidative phosphorylation deficiency 39 (COXPD39) [MIM:618397] GFM2 Q969S9 VAR_082194 p.Arg190Gln LP/P rs761283105 Combined oxidative phosphorylation deficiency 39 (COXPD39) [MIM:618397] GFM2 Q969S9 VAR_082195 p.Asp576Glu US - Combined oxidative phosphorylation deficiency 39 (COXPD39) [MIM:618397] GFOD2 Q3B7J2 VAR_054433 p.Gly231Val LB/B rs11539687 - GFPT1 Q06210 VAR_065339 p.Thr15Ala LP/P rs387906638 Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542] GFPT1 Q06210 VAR_065340 p.Thr15Met LP/P rs751097758 Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542] GFPT1 Q06210 VAR_065341 p.Asp43Val LP/P - Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542] GFPT1 Q06210 VAR_065342 p.Arg111Cys LP/P rs201322234 Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542] GFPT1 Q06210 VAR_065343 p.Ile121Thr LP/P rs753866967 Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542] GFPT1 Q06210 VAR_065344 p.Val199Phe LP/P rs1378864996 Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542] GFPT1 Q06210 VAR_065345 p.Asp366Tyr LP/P rs1574058076 Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542] GFPT1 Q06210 VAR_065346 p.Arg403His LP/P rs1363498649 Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542] GFPT1 Q06210 VAR_065347 p.Arg452His LP/P - Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542] GFPT1 Q06210 VAR_065348 p.Met509Thr LP/P rs1558728601 Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542] GFPT1 Q06210 VAR_065349 p.Met510Thr LP/P - Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542] GFPT1 Q06210 VAR_065350 p.Arg514Trp LP/P - Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542] GFPT1 Q06210 VAR_065351 p.Arg530Trp LP/P rs1024585946 Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542] GFPT2 O94808 VAR_013311 p.Ile471Val LB/B rs2303007 - GFRA1 P56159 VAR_012488 p.Tyr85Asn LB/B rs8192662 - GFRA1 P56159 VAR_012489 p.Thr366Ala LB/B rs2072276 - GFRA1 P56159 VAR_018261 p.Leu371Arg LB/B rs924541616 - GFRA2 O00451 VAR_059976 p.Leu462Gln LB/B rs1128397 - GFRAL Q6UXV0 VAR_036234 p.Asp195His US rs1224725337 A breast cancer sample GFRAL Q6UXV0 VAR_053105 p.Arg33Cys LB/B rs12199003 - GFRAL Q6UXV0 VAR_053106 p.Ser387Pro LB/B rs9370418 - GGA1 Q9UJY5 VAR_036522 p.Gly239Ser US rs765255006 A breast cancer sample GGA1 Q9UJY5 VAR_036523 p.Pro484Ala US - A breast cancer sample GGA2 Q9UJY4 VAR_028275 p.Ala424Pro LB/B rs1135045 - GGA3 Q9NZ52 VAR_036524 p.Pro574Leu US rs776324450 A breast cancer sample GGA3 Q9NZ52 VAR_075715 p.Lys132Arg LB/B rs117805695 - GGA3 Q9NZ52 VAR_075716 p.Ser321Gly LB/B rs146877619 - GGCX P38435 VAR_005780 p.Arg325Gln LB/B rs699664 - GGCX P38435 VAR_005781 p.Leu394Arg LP/P rs121909675 Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) [MIM:277450] GGCX P38435 VAR_015218 p.Trp501Ser LP/P rs28928872 Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) [MIM:277450] GGCX P38435 VAR_021826 p.Arg485Pro LP/P rs121909676 Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) [MIM:277450] GGCX P38435 VAR_032979 p.Phe299Ser LP/P rs121909677 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842] GGCX P38435 VAR_032980 p.Arg476Cys LP/P rs121909681 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842] GGCX P38435 VAR_032981 p.Arg476His LP/P rs121909682 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842] GGCX P38435 VAR_032982 p.Trp493Ser LP/P rs121909679 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842] GGCX P38435 VAR_032983 p.Gly558Arg LP/P rs121909678 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842] GGH Q92820 VAR_014697 p.Cys6Arg LB/B rs1800909 - GGH Q92820 VAR_029230 p.Ala31Thr LB/B rs11545077 - GGH Q92820 VAR_029231 p.Thr151Ile LB/B rs11545078 - GGPS1 O95749 VAR_086458 p.Pro15Ser US - Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MDHLO) [MIM:619518] GGPS1 O95749 VAR_086459 p.Phe257Cys LP/P - Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MDHLO) [MIM:619518] GGPS1 O95749 VAR_086460 p.Tyr259Cys LP/P - Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MDHLO) [MIM:619518] GGPS1 O95749 VAR_086461 p.Arg261Gly LP/P - Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MDHLO) [MIM:619518] GGPS1 O95749 VAR_086462 p.Arg261His LP/P - Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MDHLO) [MIM:619518] GGT1 P19440 VAR_018372 p.Val272Ala LB/B rs4049829 - GGT1 P19440 VAR_018373 p.Lys52Glu LB/B rs2330838 - GGT1 P19440 VAR_018374 p.Ala177Val LB/B rs3895576 - GGT1 P19440 VAR_025545 p.Ser51Leu LB/B rs2330837 - GGT1 P19440 VAR_025546 p.Asn419Asp LB/B rs17004876 - GGT1 P19440 VAR_049181 p.Val435Ala LB/B rs1062459 - GGT5 P36269 VAR_024455 p.Ile475Val LB/B rs7288201 - GGT5 P36269 VAR_028006 p.Leu11Ile LB/B rs5760274 - GGT5 P36269 VAR_028007 p.Lys330Arg LB/B rs2275984 - GGT5 P36269 VAR_028008 p.Gln332His LB/B rs6004105 - GGT6 Q6P531 VAR_038138 p.Arg40Trp LB/B rs7216284 - GGT6 Q6P531 VAR_038139 p.Ala58Val LB/B rs11657054 - GGTLC2 Q14390 VAR_035113 p.Glu70Gly LB/B rs2904923 - GGTLC2 Q14390 VAR_055836 p.Asp75Asn LB/B rs2330126 - GH1 P01241 VAR_011917 p.Thr3Ala LB/B rs2001345 - GH1 P01241 VAR_011918 p.Ser105Cys LB/B rs6174 - GH1 P01241 VAR_011919 p.Val136Ile LB/B rs5388 - GH1 P01241 VAR_015801 p.Leu16Pro LP/P - Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015802 p.Asp37Asn LP/P - Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015803 p.Arg42Cys LP/P rs71640273 Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015804 p.Thr53Ile LP/P - Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015805 p.Lys67Arg LP/P - Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015806 p.Asn73Asp LP/P rs71640276 Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015807 p.Ser97Phe LP/P - Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015808 p.Glu100Lys LP/P - Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015809 p.Arg103Cys LP/P rs137853220 Kowarski syndrome (KWKS) [MIM:262650] GH1 P01241 VAR_015810 p.Gln117Leu LP/P - Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015811 p.Ser134Cys LP/P - Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015812 p.Ser134Arg LP/P - Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015813 p.Asp138Gly LP/P rs137853221 Kowarski syndrome (KWKS) [MIM:262650] GH1 P01241 VAR_015814 p.Thr201Ala LP/P - Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015815 p.Arg209His LP/P rs137853223 Growth hormone deficiency, isolated, 2 (IGHD2) [MIM:173100] GH1 P01241 VAR_032702 p.Cys79Ser LB/B rs137853222 - GH1 P01241 VAR_032703 p.Ile205Met LB/B rs148474991 - GH2 P01242 VAR_014591 p.Arg90Trp LB/B rs5389 - GHR P10912 VAR_002708 p.Glu62Lys LP/P rs121909361 Growth hormone insensitivity, partial (GHIP) [MIM:604271] GHR P10912 VAR_002709 p.Arg89Lys LP/P - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_002710 p.Phe114Ser LP/P rs121909357 Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_002711 p.Val143Ala LP/P - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_002712 p.Val162Asp LP/P - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_002713 p.Asp170His LP/P rs121909366 Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_002714 p.Arg179Cys LP/P rs121909362 Growth hormone insensitivity, partial (GHIP) [MIM:604271] GHR P10912 VAR_002714 p.Arg179Cys LP/P rs121909362 Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_002715 p.Arg229Gly LP/P - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_002716 p.Glu242Asp US rs45588036 - GHR P10912 VAR_013937 p.Arg179His LB/B rs6181 - GHR P10912 VAR_013938 p.Arg229His US rs6177 - GHR P10912 VAR_013939 p.Cys440Phe LB/B rs6182 - GHR P10912 VAR_013940 p.Pro495Thr LB/B rs6183 - GHR P10912 VAR_013941 p.Ile544Leu LB/B rs6180 - GHR P10912 VAR_013942 p.Pro579Thr LB/B rs6184 - GHR P10912 VAR_018426 p.Cys56Ser LP/P - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018427 p.Ser58Leu LP/P - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018428 p.Trp68Arg LP/P - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018429 p.Pro149Gln LP/P rs121909365 Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018430 p.Val162Ile US rs6413484 - GHR P10912 VAR_018431 p.Ile171Thr LP/P rs121909367 Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018432 p.Gln172Pro LP/P rs121909368 Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018433 p.Val173Gly LP/P rs121909369 Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018434 p.Tyr226Cys LP/P - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018435 p.Ser244Ile LP/P rs1164396446 Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018436 p.Asp262Asn LP/P - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_020002 p.Val162Phe LB/B rs6413484 - GHR P10912 VAR_032704 p.Glu465Lys LB/B rs34283856 - GHRH P01286 VAR_024328 p.Leu75Phe LB/B rs4988492 - GHRH P01286 VAR_049185 p.Tyr32Cys LB/B rs17787698 - GHRHR Q02643 VAR_015796 p.Leu144His LP/P rs121918118 Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157] GHRHR Q02643 VAR_015797 p.Ala176Val LP/P rs774281185 Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157] GHRHR Q02643 VAR_015798 p.Ala222Glu LP/P rs121918120 Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157] GHRHR Q02643 VAR_015799 p.Phe242Cys LP/P rs121918119 Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157] GHRHR Q02643 VAR_015800 p.Lys329Glu LP/P rs121918121 Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157] GHRHR Q02643 VAR_033962 p.Ala57Thr LB/B rs4988496 - GHRHR Q02643 VAR_033963 p.Glu121Asp LB/B rs4988498 - GHRHR Q02643 VAR_033964 p.Val225Ile LB/B rs28371560 - GHRHR Q02643 VAR_033965 p.Met422Thr LB/B rs2228078 - GHRHR Q02643 VAR_036223 p.Ala45Thr US - A colorectal cancer sample GHRL Q9UBU3 VAR_029135 p.Gln90Leu LB/B rs4684677 - GHRL Q9UBU3 VAR_050095 p.Leu72Met LB/B rs696217 - GHSR Q92847 VAR_032705 p.Ala204Glu LP/P rs121917883 Growth hormone deficiency, isolated partial (GHDP) [MIM:615925] GHSR Q92847 VAR_049389 p.Thr5Ile LB/B rs2232165 - GHSR Q92847 VAR_073173 p.Arg237Trp LP/P rs199588904 Growth hormone deficiency, isolated partial (GHDP) [MIM:615925] GIGYF2 Q6Y7W6 VAR_044439 p.Asn56Ser LB/B rs72554080 - GIGYF2 Q6Y7W6 VAR_044440 p.Thr112Ala US rs1171688751 Parkinson disease 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_044441 p.Ile278Val LB/B rs118203904 - GIGYF2 Q6Y7W6 VAR_044442 p.Ser335Thr US rs776898936 Parkinson disease 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_044443 p.Asn457Thr LB/B rs116074753 - GIGYF2 Q6Y7W6 VAR_044444 p.Pro460Thr LB/B rs2289912 - GIGYF2 Q6Y7W6 VAR_044445 p.Asp606Glu LB/B rs118203903 - GIGYF2 Q6Y7W6 VAR_044446 p.His1171Arg LB/B rs72554081 - GIGYF2 Q6Y7W6 VAR_044449 p.Val1242Ile LP/P rs769022021 Parkinson disease 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_051268 p.Pro423Leu LB/B rs34845648 - GIGYF2 Q6Y7W6 VAR_077935 p.Glu256Lys US - Parkinson disease 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_077936 p.Ser273Cys US rs141225775 Parkinson disease 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_077937 p.Ala345Val US - Parkinson disease 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_077938 p.Asp349Glu US rs148277228 Parkinson disease 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_077939 p.Ser377Tyr US - Parkinson disease 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_077940 p.Pro473Ser US rs1384919564 Parkinson disease 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_077941 p.Glu492Lys US - Parkinson disease 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_077942 p.His519Tyr US - Parkinson disease 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_077943 p.Ala560Val LB/B rs761136505 - GIGYF2 Q6Y7W6 VAR_077944 p.Leu580Phe US - Parkinson disease 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_077945 p.Arg589Gly US - - GIGYF2 Q6Y7W6 VAR_077947 p.Asp1070His US - Parkinson disease 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_077948 p.Ala1131Val LB/B rs773011114 - GIGYF2 Q6Y7W6 VAR_077949 p.Leu1209Pro US rs114013774 Parkinson disease 11 (PARK11) [MIM:607688] GIMAP1 Q8WWP7 VAR_036301 p.Val166Glu US - A breast cancer sample GIMAP1 Q8WWP7 VAR_049530 p.Arg254Ser LB/B rs7811263 - GIMAP2 Q9UG22 VAR_017305 p.His161Arg LB/B rs2075078 - GIMAP2 Q9UG22 VAR_049531 p.Val74Phe LB/B rs11558054 - GIMAP2 Q9UG22 VAR_049532 p.Asn152Ser LB/B rs17173567 - GIMAP4 Q9NUV9 VAR_017306 p.Glu128Asp LB/B rs2293172 - GIMAP5 Q96F15 VAR_081683 p.Leu204Pro US rs72650695 Portal hypertension, non-cirrhotic, 2 (NCPH2) [MIM:619463] GIMAP5 Q96F15 VAR_086141 p.Ile47Thr US - Portal hypertension, non-cirrhotic, 2 (NCPH2) [MIM:619463] GIMAP5 Q96F15 VAR_086142 p.Pro109Leu US - Portal hypertension, non-cirrhotic, 2 (NCPH2) [MIM:619463] GIMAP5 Q96F15 VAR_086143 p.Leu223Phe US - Portal hypertension, non-cirrhotic, 2 (NCPH2) [MIM:619463] GIMAP6 Q6P9H5 VAR_043037 p.Gly170Asp LB/B rs11974345 - GIMAP6 Q6P9H5 VAR_043038 p.Gly171Ser LB/B rs13234724 - GIMAP6 Q6P9H5 VAR_043039 p.Gln237Arg LB/B rs11977216 - GIMAP6 Q6P9H5 VAR_049533 p.Val65Ile LB/B rs17173519 - GIMAP7 Q8NHV1 VAR_049534 p.Arg83Cys LB/B rs3735080 - GIMAP8 Q8ND71 VAR_044129 p.Ile301Thr LB/B rs2293283 - GIN1 Q9NXP7 VAR_043041 p.Gly22Cys LB/B rs17851289 - GIN1 Q9NXP7 VAR_043042 p.Thr239Met LB/B rs34813 - GINS1 Q14691 VAR_051606 p.Val97Ile LB/B rs6076347 - GINS1 Q14691 VAR_080619 p.Arg83Cys LP/P rs137901350 Immunodeficiency 55 (IMD55) [MIM:617827] GINS1 Q14691 VAR_080620 p.Cys152Tyr LP/P rs376610445 Immunodeficiency 55 (IMD55) [MIM:617827] GIP P09681 VAR_021897 p.Ser103Gly LB/B rs2291725 - GIP P09681 VAR_033973 p.Asn146Ser LB/B rs35703924 - GIPC2 Q8TF65 VAR_027084 p.Ser61Phe LB/B rs17101180 - GIPC2 Q8TF65 VAR_027085 p.Leu206Pro LB/B rs540742 - GIPC3 Q8TF64 VAR_065967 p.Gly46Arg LP/P rs946085339 Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] GIPC3 Q8TF64 VAR_065968 p.Met88Ile LP/P rs1214652710 Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] GIPC3 Q8TF64 VAR_065969 p.Gly94Asp LP/P rs763523474 Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] GIPC3 Q8TF64 VAR_065970 p.Arg189Cys LP/P rs387907002 Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] GIPC3 Q8TF64 VAR_065971 p.Thr221Ile LP/P rs761543680 Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] GIPC3 Q8TF64 VAR_065972 p.Gly256Asp LP/P rs387907001 Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] GIPC3 Q8TF64 VAR_065973 p.Leu262Arg LP/P rs387906999 Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] GIPR P48546 VAR_011808 p.Ala207Val LB/B rs1800436 - GIPR P48546 VAR_011809 p.Leu262Val LB/B rs5392 - GIPR P48546 VAR_011810 p.Glu354Gln LB/B rs1800437 - GIPR P48546 VAR_029333 p.Arg136Trp LB/B rs13306402 - GIT2 Q14161 VAR_024368 p.Asn387Ser LB/B rs925368 - GIT2 Q14161 VAR_048324 p.Asn338Ser LB/B rs9804905 - GIT2 Q14161 VAR_048325 p.Ala552Val LB/B rs11068997 - GJA1 P17302 VAR_014095 p.Arg148Gln LP/P rs962041031 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_014096 p.Ala168Thr LB/B rs2228961 - GJA1 P17302 VAR_014100 p.Arg239Trp US - - GJA1 P17302 VAR_014101 p.Pro283Leu US - - GJA1 P17302 VAR_014102 p.Thr290Asn US - - GJA1 P17302 VAR_015747 p.Tyr17Ser LP/P rs104893961 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015748 p.Ser18Pro LP/P rs104893962 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015749 p.Gly21Arg LP/P rs104893963 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015750 p.Gly22Glu LP/P rs104893964 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015751 p.Lys23Thr LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015752 p.Ala40Val LP/P rs1554200992 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015753 p.Gln49Lys LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015755 p.Arg76Ser LP/P rs267606845 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015756 p.Leu90Val LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015757 p.Tyr98Cys LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015758 p.Lys102Asn LP/P rs1554201011 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015759 p.Ile130Thr LP/P rs1554201017 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015760 p.Lys134Glu LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015761 p.Gly138Arg LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015762 p.Arg202His LP/P rs750294638 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015763 p.Val216Leu LP/P rs1554201043 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015764 p.Ala253Val LB/B rs17653265 - GJA1 P17302 VAR_032924 p.Arg362Gln US rs2227885 Hypoplastic left heart syndrome 1 (HLHS1) [MIM:241550] GJA1 P17302 VAR_032925 p.Arg376Gln US rs104893965 Hypoplastic left heart syndrome 1 (HLHS1) [MIM:241550] GJA1 P17302 VAR_038356 p.Ser27Pro LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_038357 p.Ile31Met LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_038358 p.Ser69Tyr LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_038359 p.Leu113Pro LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_038360 p.Lys134Asn LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_038361 p.Gly143Ser LP/P rs28931600 Syndactyly 3 (SDTY3) [MIM:186100] GJA1 P17302 VAR_058990 p.Gly2Val LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_058991 p.Leu7Val LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_058992 p.Leu11Pro LP/P rs121912969 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_058993 p.Val41Leu US - - GJA1 P17302 VAR_058994 p.Gln49Pro LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_058996 p.Pro59His LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_058997 p.Arg76His LP/P rs267606844 Hallermann-Streiff syndrome (HSS) [MIM:234100] GJA1 P17302 VAR_058998 p.His95Arg LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_058999 p.Val96Ala LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059000 p.Val96Glu LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059001 p.Val96Met LP/P rs28931601 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059002 p.Leu106Pro LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059003 p.Glu110Asp LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059004 p.Met147Thr LP/P rs1057518872 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059005 p.Thr154Ala LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059006 p.Thr154Asn LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059008 p.His194Pro LP/P rs104893966 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059009 p.Ser201Phe LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059010 p.Ser220Tyr LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059011 p.Ser251Thr US - - GJA1 P17302 VAR_059012 p.Ala253Pro US - - GJA1 P17302 VAR_059013 p.Thr326Ala LB/B - - GJA1 P17302 VAR_059014 p.Glu352Gly US - - GJA1 P17302 VAR_059015 p.Ser364Pro US - - GJA1 P17302 VAR_059016 p.Ser365Asn US - - GJA1 P17302 VAR_059017 p.Ser373Gly LB/B - - GJA1 P17302 VAR_070440 p.Lys206Arg LP/P rs397518464 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_070441 p.Arg239Gln LP/P rs764670582 Craniometaphyseal dysplasia, autosomal recessive (CMDR) [MIM:218400] GJA1 P17302 VAR_071009 p.Asp47His LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_071010 p.Ser86Tyr LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_071011 p.Leu106Arg LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_075754 p.Gly8Val LP/P rs864309644 Palmoplantar keratoderma and congenital alopecia 1 (PPKCA1) [MIM:104100] GJA1 P17302 VAR_075755 p.Ala44Val LP/P rs794729675 Erythrokeratodermia variabilis et progressiva 3 (EKVP3) [MIM:617525] GJA1 P17302 VAR_075756 p.Glu227Asp LP/P rs875989815 Erythrokeratodermia variabilis et progressiva 3 (EKVP3) [MIM:617525] GJA1 P17302 VAR_078238 p.Leu11Ile LP/P - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA3 Q9Y6H8 VAR_009158 p.Asn63Ser LP/P rs121917823 Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_022426 p.Leu299Met LB/B rs968566 - GJA3 Q9Y6H8 VAR_023447 p.Pro187Leu LP/P rs121917825 Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_030020 p.Leu11Ser LP/P - Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_030021 p.Phe32Leu LP/P - Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_030022 p.Pro59Leu LP/P rs864309691 Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_030023 p.Arg76His LP/P rs121917827 Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_038796 p.Trp45Ser LP/P - Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_066710 p.Gly2Asp LP/P rs397514703 Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_066711 p.Asp3Tyr LP/P - Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_066712 p.Val28Met LP/P rs1555339539 Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_066713 p.Arg33Leu LP/P - Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_066714 p.Val44Met LP/P rs981126461 Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_066715 p.Asp47Asn LP/P - Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_066716 p.Arg76Gly LP/P - Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_066717 p.Thr87Met LP/P rs864309687 Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_066718 p.Pro187Ser LP/P - Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_066719 p.Asn188Thr LP/P rs140332366 Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_072762 p.Gly143Glu LP/P - Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_072763 p.Asn188Ile LP/P rs140332366 Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_075211 p.Glu48Gly LP/P - Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_084808 p.Thr19Met US rs1114167307 Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA3 Q9Y6H8 VAR_084809 p.Lys156Gln US rs1114167308 Cataract 14, multiple types (CTRCT14) [MIM:601885] GJA4 P35212 VAR_009159 p.Pro71Ser LB/B - - GJA4 P35212 VAR_009160 p.Ala128Val LB/B rs147128480 - GJA4 P35212 VAR_009161 p.Val130Ile LB/B rs41266431 - GJA4 P35212 VAR_009162 p.Pro319Ser LB/B rs1764391 - GJA5 P36382 VAR_035013 p.Pro88Ser LP/P rs121434558 Atrial standstill 1 (ATRST1) [MIM:108770] GJA5 P36382 VAR_035014 p.Ala96Ser LP/P rs121434557 Atrial standstill 1 (ATRST1) [MIM:108770] GJA5 P36382 VAR_066249 p.Val85Ile LP/P rs387906613 Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049] GJA5 P36382 VAR_066250 p.Leu221Ile LP/P rs387906614 Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049] GJA5 P36382 VAR_066251 p.Leu229Met LP/P rs387906615 Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049] GJA8 P48165 VAR_002005 p.Pro88Ser LP/P rs80358200 Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_037642 p.Val64Gly LP/P - Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_038797 p.Arg23Thr LP/P rs80358203 Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_038798 p.Val44Glu LP/P rs80358204 Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_038799 p.Glu48Lys LP/P rs80358201 Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_038800 p.Arg198Gln LP/P rs80358205 Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_038801 p.Ile247Met LB/B rs80358202 - GJA8 P48165 VAR_069579 p.Asp47Asn US rs121434643 Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_070021 p.Asp67Gly LP/P - Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_070022 p.Arg76Cys LP/P - Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_084810 p.Trp25Arg US rs1114167309 Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_084811 p.Thr39Arg US - Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_084812 p.Trp45Ser US rs864309688 Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_084813 p.Gly46Arg US rs1553242554 Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_084814 p.Ser73Phe LP/P - Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_084815 p.Ala118Glu US rs782306193 Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_084816 p.Glu162Lys US rs1114167310 Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_086591 p.Pro88Leu LP/P - Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA8 P48165 VAR_086592 p.Pro88Gln LP/P - Cataract 1, multiple types (CTRCT1) [MIM:116200] GJA9 P57773 VAR_019392 p.Val497Ile LB/B rs880303 - GJB1 P08034 VAR_002006 p.Trp3Arg LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002007 p.Trp3Ser LP/P rs1555936989 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002008 p.Tyr7Cys LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002009 p.Thr8Pro LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002010 p.Ser11Gly LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002011 p.Gly12Ser LP/P rs1555936999 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002012 p.Val13Leu LP/P rs104894820 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002013 p.Val13Met LP/P rs104894820 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002014 p.Asn14Lys LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002015 p.Arg15Gln LP/P rs863224974 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002016 p.Arg15Trp LP/P rs116840815 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002017 p.His16Pro LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002018 p.Ile20Ser LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002019 p.Gly21Asp LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002020 p.Arg22Gly LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002021 p.Arg22Pro LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002022 p.Arg22Gln LP/P rs1060501002 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002023 p.Val23Ala LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002024 p.Leu25Phe LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002025 p.Ser26Leu LP/P rs587777876 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002026 p.Ile28Thr LP/P rs768834663 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002028 p.Phe29Leu LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002029 p.Ile30Asn LP/P rs104894817 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002030 p.Met34Thr LP/P rs1060500998 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002031 p.Met34Val LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002032 p.Val35Met LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002033 p.Val38Met LP/P rs879254012 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002034 p.Ala39Pro LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002035 p.Ala39Val LP/P rs786204095 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002036 p.Ala40Val LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002037 p.Glu41Lys LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002038 p.Val43Met LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002039 p.Trp44Leu LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002040 p.Ser49Tyr LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002041 p.Ser50Pro LP/P rs913934445 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002042 p.Cys53Ser LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002043 p.Leu56Phe LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002044 p.Pro58Arg LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002045 p.Gly59Cys LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002046 p.Cys60Phe LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002047 p.Val63Ile LP/P rs116840818 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002048 p.Cys64Ser LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002049 p.Tyr65Cys LP/P rs104894819 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002051 p.Arg75Pro LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002052 p.Arg75Gln LP/P rs863224972 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002053 p.Arg75Trp LP/P rs116840819 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002054 p.Trp77Ser LP/P rs199570177 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002055 p.Gln80Arg LP/P rs879254097 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002056 p.Leu81Phe LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002057 p.Leu83Pro LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002058 p.Val84Ile LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002059 p.Ser85Cys LP/P rs104894823 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002060 p.Ser85Phe LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002061 p.Thr86Ala LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002062 p.Thr86Asn LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002063 p.Thr86Ser LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002064 p.Pro87Ala LP/P rs587777877 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002065 p.Pro87Leu LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002066 p.Pro87Ser LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002067 p.Leu89Pro LP/P rs1555937122 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002068 p.Leu90His LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002069 p.Met93Val LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002070 p.His94Gln LP/P rs756000896 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002071 p.His94Tyr LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002072 p.Val95Met LP/P rs104894821 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002073 p.His100Tyr LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002074 p.Glu102Gly LP/P rs779696968 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002075 p.Lys103Glu LP/P rs1131691322 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002076 p.Arg107Trp LP/P rs863224973 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002078 p.Lys124Asn LP/P rs876661119 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002079 p.Ser128Pro LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002080 p.Trp133Cys LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002081 p.Trp133Arg LP/P rs104894813 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002082 p.Tyr135Cys LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002083 p.Val139Met LP/P rs104894812 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002084 p.Phe141Leu LP/P rs1555937180 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002085 p.Arg142Glu LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002086 p.Arg142Trp LP/P rs104894810 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002088 p.Phe149Ile LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002089 p.Leu156Phe LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002090 p.Leu156Arg LP/P rs104894818 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002091 p.Tyr157Cys LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002092 p.Pro158Ala LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002093 p.Pro158Arg LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002094 p.Pro158Ser LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002095 p.Gly159Ser LP/P rs1555937194 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002096 p.Tyr160His LP/P rs1555937197 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002097 p.Ala161Pro LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002098 p.Arg164Gln LP/P rs1241595912 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002099 p.Arg164Trp LP/P rs139643362 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002100 p.Pro172Leu LP/P rs1555937218 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002101 p.Pro172Ser LP/P rs104894811 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002102 p.Cys173Arg LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002103 p.Asn175Asp LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002104 p.Asp178Tyr LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002105 p.Cys179Arg LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002106 p.Phe180Leu LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002107 p.Val181Met LP/P rs879253909 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002108 p.Ser182Thr LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002109 p.Arg183Cys LP/P rs863224471 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002110 p.Arg183His LP/P rs1555937233 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002111 p.Arg183Ser LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002112 p.Pro184Arg LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002114 p.Glu186Lys LP/P rs116840821 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002115 p.Lys187Glu LP/P rs1555937244 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002116 p.Val189Gly LP/P rs1064794244 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002117 p.Val189Ile LP/P rs770116247 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002119 p.Phe193Cys LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002120 p.Met194Val LP/P rs587777878 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002121 p.Ser198Phe LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002122 p.Gly199Arg LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002123 p.Cys201Arg LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002124 p.Ile203Asn LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002125 p.Leu204Phe LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002126 p.Asn205Ser LP/P rs104894822 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002127 p.Glu208Lys LP/P rs1555937270 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002129 p.Arg215Trp LP/P rs879254099 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002130 p.Arg219Cys LP/P rs144381053 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002131 p.Arg219His LP/P rs199834862 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002132 p.Arg220Gly LP/P rs104894814 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002133 p.Arg230Cys LP/P rs587781246 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002134 p.Arg230Leu LP/P rs780335726 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002135 p.Phe235Cys LP/P rs104894825 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002136 p.Arg238His LP/P rs776206757 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_008137 p.Thr55Ile LP/P rs104894824 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_008138 p.Val120Glu LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_012313 p.Tyr65His LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_021611 p.Val136Ala LP/P rs104894826 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_021611 p.Val136Ala LP/P rs104894826 Dejerine-Sottas syndrome (DSS) [MIM:145900] GJB1 P08034 VAR_021612 p.Cys168Arg LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029895 p.Thr8Ile LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029896 p.Leu9Trp LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029898 p.Trp24Cys LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029899 p.Leu25Pro LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029900 p.Ser26Trp LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029901 p.Ile28Asn LP/P rs768834663 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029902 p.Ile30Thr LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029903 p.Met34Ile LP/P rs1060501000 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029904 p.Met34Lys LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029905 p.Val37Met LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029906 p.Ala40Thr LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029907 p.Ser49Pro LP/P rs116840817 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029908 p.Thr55Ala LP/P rs863224613 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029909 p.Thr55Arg LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029910 p.Gln57His LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029911 p.Gly59Arg LP/P rs1555937077 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029912 p.Cys64Phe LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029913 p.Phe69Leu LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029914 p.Pro70Ala LP/P rs878853697 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029915 p.Leu90Val LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029916 p.Val91Met LP/P rs756928158 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029917 p.His94Asp LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029919 p.Lys104Thr LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029920 p.Leu108Pro LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029922 p.Val125Asp LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029923 p.His126Tyr LP/P rs879253995 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029924 p.Ile127Met LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029925 p.Ile127Ser LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029926 p.Thr130Ile LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029927 p.Leu131Pro LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029928 p.Ser138Asn LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029929 p.Arg142Gln LP/P rs786204123 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029930 p.Glu146Lys LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029931 p.Ala147Asp LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029932 p.Phe149Val US - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029933 p.Tyr151Ser LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029934 p.Phe153Ser LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029935 p.Gly159Asp LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029936 p.Cys168Tyr LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029937 p.Pro172Ala LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029938 p.Pro172Arg LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029939 p.Val177Ala LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029940 p.Val177Glu LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029941 p.Phe180Ser LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029942 p.Val181Ala LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029943 p.Pro184Leu LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029944 p.Thr191Ala LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029945 p.Val192Phe LP/P rs771579861 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029946 p.Phe193Leu LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029947 p.Cys201Tyr LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029948 p.Leu204Val LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029949 p.Asn205Ile LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029950 p.Glu208Gly LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029952 p.Tyr211His LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029953 p.Ile213Val LP/P rs753503984 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029954 p.Arg215Gln LP/P rs864622215 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029955 p.Leu239Ile LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029956 p.Arg264Cys LP/P rs587777879 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029957 p.Cys280Gly LP/P - Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_076567 p.Lys124Glu LP/P rs1555937161 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] GJB2 P29033 VAR_002137 p.Val27Ile LB/B rs2274084 - GJB2 P29033 VAR_002138 p.Met34Thr LP/P rs35887622 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_002139 p.Val37Ile LP/P rs72474224 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_002140 p.Arg75Trp LP/P rs104894402 Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_002140 p.Arg75Trp LP/P rs104894402 Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] GJB2 P29033 VAR_002141 p.Trp77Arg LP/P rs104894397 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_002142 p.Phe83Leu LB/B rs111033218 - GJB2 P29033 VAR_002143 p.Val84Leu LP/P rs104894409 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_002144 p.Val95Met LP/P rs111033299 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_002145 p.Ser113Arg LP/P rs80338946 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_002146 p.Gly160Ser LB/B rs34988750 - GJB2 P29033 VAR_008709 p.Trp44Cys LP/P rs104894407 Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_008710 p.Asp66His LP/P rs104894403 Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] GJB2 P29033 VAR_008710 p.Asp66His LP/P rs104894403 Vohwinkel syndrome (VOWNKL) [MIM:124500] GJB2 P29033 VAR_009965 p.Gly59Ala LP/P rs104894404 Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] GJB2 P29033 VAR_009966 p.Glu114Gly LB/B rs2274083 - GJB2 P29033 VAR_009967 p.Val153Ile LB/B rs111033186 - GJB2 P29033 VAR_009968 p.Cys169Tyr LB/B rs774518779 - GJB2 P29033 VAR_009969 p.Arg184Trp LP/P rs998045226 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_009970 p.Ile203Thr LB/B rs76838169 - GJB2 P29033 VAR_015453 p.Gly12Arg LP/P rs104894408 Keratitis-ichthyosis-deafness syndrome, autosomal dominant (KIDAD) [MIM:148210] GJB2 P29033 VAR_015454 p.Ser17Phe LP/P rs28929485 Keratitis-ichthyosis-deafness syndrome, autosomal dominant (KIDAD) [MIM:148210] GJB2 P29033 VAR_015455 p.Gly45Glu LB/B rs72561723 - GJB2 P29033 VAR_015456 p.Asp50Asn LP/P rs28931594 Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540] GJB2 P29033 VAR_015456 p.Asp50Asn LP/P rs28931594 Keratitis-ichthyosis-deafness syndrome, autosomal dominant (KIDAD) [MIM:148210] GJB2 P29033 VAR_015457 p.Ile71Thr LB/B rs1373154561 - GJB2 P29033 VAR_015458 p.Thr86Arg LP/P rs1291519904 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_015459 p.Thr123Asn LB/B rs111033188 - GJB2 P29033 VAR_015460 p.Arg143Trp LP/P rs80338948 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_015461 p.Phe191Leu LB/B rs397516878 - GJB2 P29033 VAR_015935 p.Asp50Tyr LP/P rs28931594 Keratitis-ichthyosis-deafness syndrome, autosomal dominant (KIDAD) [MIM:148210] GJB2 P29033 VAR_015936 p.Arg75Gln LP/P rs28931593 Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] GJB2 P29033 VAR_015937 p.Leu90Pro LP/P rs80338945 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_015938 p.Ile111Thr LB/B rs1316789942 - GJB2 P29033 VAR_015939 p.Arg127His LB/B rs111033196 - GJB2 P29033 VAR_015940 p.Arg143Gln LP/P rs104894401 Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_015941 p.Asp159Val LP/P rs28931592 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_015942 p.Arg165Trp LB/B rs376898963 - GJB2 P29033 VAR_015943 p.Arg184Pro LP/P rs80338950 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_015944 p.Cys202Phe LP/P rs104894406 Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_016839 p.Arg32Leu LB/B rs111033190 - GJB2 P29033 VAR_023605 p.Arg32His LP/P rs111033190 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_023607 p.Leu79Pro LP/P rs1555341957 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_023608 p.Gln80Lys LP/P - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_023609 p.Met93Ile LP/P rs397516871 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_023611 p.Glu129Lys LP/P rs397516875 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_023612 p.Val167Met LB/B rs111033360 - GJB2 P29033 VAR_023613 p.Val178Ala LP/P rs568612627 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_023614 p.Arg184Gln LP/P rs80338950 Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_023615 p.Ala197Ser LP/P rs777236559 Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_023616 p.Ile203Lys LP/P - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_023617 p.Leu214Pro LP/P - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_032749 p.Trp44Ser LP/P rs104894413 Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_032750 p.Asn54Lys LP/P rs104894412 Bart-Pumphrey syndrome (BAPS) [MIM:149200] GJB2 P29033 VAR_032751 p.Gly59Ser LP/P rs104894410 Bart-Pumphrey syndrome (BAPS) [MIM:149200] GJB2 P29033 VAR_032752 p.Asp179Asn LP/P rs28931595 Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_057959 p.Lys168Arg US rs200104362 - GJB2 P29033 VAR_060798 p.Asp46Glu LP/P - Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_060799 p.His73Arg LP/P rs121912968 Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] GJB2 P29033 VAR_060800 p.Val84Met LP/P rs104894409 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_069519 p.Asp117His LB/B - - GJB2 P29033 VAR_069520 p.Gly130Ala LP/P rs779018464 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_069521 p.Gly130Asp LP/P rs779018464 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_069522 p.Gly130Val LP/P - Vohwinkel syndrome (VOWNKL) [MIM:124500] GJB2 P29033 VAR_069524 p.Ala148Pro LB/B - - GJB3 O75712 VAR_002147 p.Gly12Asp LP/P rs74315316 Erythrokeratodermia variabilis et progressiva 1 (EKVP1) [MIM:133200] GJB3 O75712 VAR_002148 p.Gly12Arg LP/P rs74315315 Erythrokeratodermia variabilis et progressiva 1 (EKVP1) [MIM:133200] GJB3 O75712 VAR_002149 p.Cys86Ser LP/P rs74315317 Erythrokeratodermia variabilis et progressiva 1 (EKVP1) [MIM:133200] GJB3 O75712 VAR_002150 p.Glu183Lys US rs74315318 Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644] GJB3 O75712 VAR_011978 p.Arg32Trp LB/B rs1805063 - GJB3 O75712 VAR_015085 p.Arg42Pro LP/P rs74315321 Erythrokeratodermia variabilis et progressiva 1 (EKVP1) [MIM:133200] GJB3 O75712 VAR_015086 p.Phe137Leu LP/P - Erythrokeratodermia variabilis et progressiva 1 (EKVP1) [MIM:133200] GJB3 O75712 VAR_015087 p.Ile141Val LP/P rs74315320 Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644] GJB3 O75712 VAR_022423 p.Val200Ile LB/B rs61734064 - GJB4 Q9NTQ9 VAR_010206 p.Phe137Leu LP/P rs80358206 Erythrokeratodermia variabilis et progressiva 2 (EKVP2) [MIM:617524] GJB4 Q9NTQ9 VAR_015088 p.Arg103Cys LB/B rs9426009 - GJB4 Q9NTQ9 VAR_015089 p.Arg124Gln LB/B rs140996335 - GJB4 Q9NTQ9 VAR_015090 p.Arg160Cys LB/B rs148710003 - GJB4 Q9NTQ9 VAR_015091 p.Cys169Trp LB/B rs79193415 - GJB4 Q9NTQ9 VAR_015092 p.Glu204Ala LB/B rs3738346 - GJB4 Q9NTQ9 VAR_079194 p.Gly12Asp LP/P rs80358211 Erythrokeratodermia variabilis et progressiva 2 (EKVP2) [MIM:617524] GJB4 Q9NTQ9 VAR_079195 p.Arg22His LP/P rs80358212 Erythrokeratodermia variabilis et progressiva 2 (EKVP2) [MIM:617524] GJB4 Q9NTQ9 VAR_079196 p.Thr85Pro LP/P rs80358210 Erythrokeratodermia variabilis et progressiva 2 (EKVP2) [MIM:617524] GJB4 Q9NTQ9 VAR_079197 p.Phe189Tyr LP/P rs80358213 Erythrokeratodermia variabilis et progressiva 2 (EKVP2) [MIM:617524] GJB6 O95452 VAR_008711 p.Thr5Met US rs104894414 Deafness, autosomal dominant, 3B (DFNA3B) [MIM:612643] GJB6 O95452 VAR_015696 p.Gly11Arg LP/P rs104894415 Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500] GJB6 O95452 VAR_015697 p.Ala88Val LP/P rs28937872 Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500] GJB6 O95452 VAR_016838 p.Val37Glu LP/P rs104894416 Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500] GJB6 O95452 VAR_022424 p.Ser139Gly LB/B - - GJB6 O95452 VAR_022425 p.Ser199Thr LB/B rs111033338 - GJB6 O95452 VAR_048825 p.Asn159Ser LB/B rs35277762 - GJB6 O95452 VAR_057960 p.Gly59Arg US - - GJB7 Q6PEY0 VAR_047627 p.Thr20Ile LB/B rs4707358 - GJB7 Q6PEY0 VAR_047628 p.Phe206Leu LB/B rs6934603 - GJB7 Q6PEY0 VAR_061125 p.Thr177Met LB/B rs41273281 - GJC2 Q5T442 VAR_023754 p.Pro90Ser LP/P rs74315312 Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804] GJC2 Q5T442 VAR_023755 p.Tyr272Asp LP/P rs74315314 Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804] GJC2 Q5T442 VAR_023756 p.Met286Thr LP/P rs74315311 Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804] GJC2 Q5T442 VAR_063172 p.Ile36Met LP/P rs75469429 Spastic paraplegia 44, autosomal recessive (SPG44) [MIM:613206] GJC2 Q5T442 VAR_063876 p.His19Pro LB/B rs149590094 - GJC2 Q5T442 VAR_063877 p.Ser48Leu LP/P rs267606847 Lymphatic malformation 3 (LMPHM3) [MIM:613480] GJC2 Q5T442 VAR_063878 p.Arg125Gln US - - GJC2 Q5T442 VAR_063879 p.Gly149Ser LB/B rs577325764 - GJC2 Q5T442 VAR_063880 p.Arg260Cys LP/P rs267606846 Lymphatic malformation 3 (LMPHM3) [MIM:613480] GJC2 Q5T442 VAR_063881 p.Pro316Leu LB/B rs760502262 - GJD4 Q96KN9 VAR_037640 p.Arg269His US - A colorectal cancer sample GJD4 Q96KN9 VAR_037641 p.Gly271Arg US rs773395724 A colorectal cancer sample GJD4 Q96KN9 VAR_047626 p.Ala90Val LB/B rs35398622 - GK P32189 VAR_001374 p.Ser185Asn LB/B - - GK P32189 VAR_001375 p.Asn232His LB/B - - GK P32189 VAR_001376 p.Ala382Thr LB/B - - GK P32189 VAR_001377 p.Asp446Val LP/P rs132630328 Glycerol kinase deficiency (GKD) [MIM:307030] GK P32189 VAR_010138 p.Trp509Arg LP/P rs132630330 Glycerol kinase deficiency (GKD) [MIM:307030] GK P32189 VAR_015433 p.Asn294Asp LP/P rs132630331 Glycerol kinase deficiency (GKD) [MIM:307030] GK P32189 VAR_068980 p.Asn79Lys LB/B rs17857267 - GK P32189 VAR_068981 p.Pro131Thr LB/B rs17854203 - GKN1 Q9NS71 VAR_035923 p.Lys104Thr US - A breast cancer sample GKN2 Q86XP6 VAR_051012 p.Ser113Asn LB/B rs1128272 - GLA P06280 VAR_000431 p.Leu32Pro LP/P rs1569306168 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000432 p.Asn34Ser LP/P rs104894835 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000433 p.Gly35Arg LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000434 p.Pro40Ser LP/P rs104894831 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000435 p.Arg49Leu LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000436 p.Cys52Arg LP/P rs1057521047 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000437 p.Cys52Ser LP/P rs869312256 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000438 p.Cys56Phe LP/P rs869312258 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000439 p.Cys56Gly LP/P rs104894836 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000440 p.Glu59Lys LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000441 p.Glu66Gln LP/P rs104894833 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000442 p.Met72Val LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000443 p.Gly85Asp LP/P rs1569304898 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000444 p.Leu89Arg LP/P rs1569304886 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000445 p.Arg100Lys LP/P rs869312273 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000447 p.Arg112Cys LP/P rs104894834 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000448 p.Arg112His LP/P rs372966991 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000450 p.Gly128Glu LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000451 p.Leu131Pro LP/P rs869312298 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000452 p.Cys142Tyr LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000453 p.Ala143Pro LP/P rs104894845 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000454 p.Gly144Val LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000455 p.Pro146Ser LP/P rs104894837 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000456 p.Ala156Thr LP/P rs28935195 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000457 p.Ala156Val LP/P rs869312307 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000458 p.Trp162Arg LP/P rs28935196 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000459 p.Asp165Val LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000460 p.Leu166Val LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000461 p.Cys172Tyr LP/P rs869312318 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000462 p.Cys202Trp LP/P rs104894838 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000463 p.Pro205Thr LP/P rs397515870 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000464 p.Asn215Ser LP/P rs28935197 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000465 p.Ile219Asn LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000466 p.Asn224Asp LP/P rs1555985175 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000467 p.Arg227Gln LP/P rs104894840 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000468 p.Asp231Asn LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000469 p.Asp244Asn LP/P rs727503948 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000471 p.Asp264Val LP/P rs28935486 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000472 p.Asp266Val LP/P rs28935487 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000473 p.Val269Ala LP/P rs28935488 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000474 p.Asn272Lys LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000475 p.Gln279Glu LP/P rs28935485 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000476 p.Met284Thr LP/P rs1928171557 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000477 p.Ala288Asp LP/P rs869312437 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000478 p.Met296Val LP/P rs104894830 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000479 p.Ser297Phe LP/P rs28935489 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000480 p.Asn298Lys LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000481 p.Arg301Gln LP/P rs104894828 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000482 p.Asp313Tyr LP/P rs28935490 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000483 p.Val316Glu LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000484 p.Gln327Lys LP/P rs28935491 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000485 p.Gly328Arg LP/P rs104894832 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000486 p.Gly328Ala LP/P rs28935492 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000487 p.Arg342Gln LP/P rs28935493 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000488 p.Arg356Trp LP/P rs104894827 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000489 p.Glu358Lys LP/P rs797044774 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000491 p.Gly361Arg LP/P rs28935494 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000493 p.Phe396Tyr US - - GLA P06280 VAR_012362 p.Ala20Pro LP/P rs104894847 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012363 p.Ala31Val LP/P rs869312448 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012364 p.Pro40Leu LP/P rs398123199 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012365 p.Met42Val LP/P rs797044613 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012367 p.His46Arg LP/P rs398123203 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012368 p.His46Tyr LP/P rs1928582757 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012369 p.Trp47Gly LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012370 p.Arg49Pro LP/P rs398123205 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012371 p.Arg49Ser LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012372 p.Cys56Tyr LP/P rs869312258 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012373 p.Tyr86Cys LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012374 p.Leu89Pro LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012375 p.Ile91Thr LP/P rs869312141 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012376 p.Asp92His LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012377 p.Asp92Tyr LP/P rs886041315 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012378 p.Asp93Gly LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012379 p.Cys94Ser LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012380 p.Cys94Tyr LP/P rs113173389 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012381 p.Trp95Ser LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012382 p.Ala97Val LP/P rs1569304867 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012383 p.Arg100Thr LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012384 p.Phe113Leu LP/P rs869312142 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012385 p.Phe113Ser LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012386 p.Tyr134Ser LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012387 p.Gly138Arg LP/P rs1928326524 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012388 p.Cys142Arg LP/P rs886044845 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012389 p.Ala143Thr US rs104894845 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012390 p.Ser148Asn LP/P rs1555985829 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012391 p.Ser148Arg LP/P rs1569304190 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012392 p.Trp162Cys LP/P rs869312311 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012393 p.Gly163Val LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012394 p.Asp170Val LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012395 p.Cys172Arg LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012396 p.Gly183Asp LP/P rs869312320 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012397 p.Met187Val LP/P rs869312340 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012398 p.Cys202Tyr LP/P rs869312344 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012400 p.Tyr216Asp LP/P rs1928199003 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012401 p.Cys223Gly LP/P rs869312381 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012402 p.Asn224Ser LP/P rs869312383 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012403 p.Trp226Arg LP/P rs1928196393 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012404 p.Ala230Thr LP/P rs1928195468 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012405 p.Ser235Cys LP/P rs797044746 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012406 p.Trp236Cys LP/P rs869312386 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012407 p.Trp236Leu LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012408 p.Ile242Asn LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012409 p.Asp244His LP/P rs727503948 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012410 p.Gly258Arg LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012411 p.Pro259Leu LP/P rs869312399 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012412 p.Pro259Arg LP/P rs869312399 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012413 p.Gly260Ala LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012414 p.Gly261Asp LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012415 p.Asn263Ser LP/P rs869312404 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012416 p.Pro265Arg LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012418 p.Asp266Asn LP/P rs869312407 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012419 p.Met267Ile LP/P rs730880451 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012420 p.Gln279His LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012421 p.Gln280His LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012422 p.Trp287Cys LP/P rs104894839 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012423 p.Trp287Gly LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012424 p.Ile289Phe LP/P rs140329381 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012425 p.Met296Ile LP/P rs104894846 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012426 p.Asn298His LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012427 p.Asn298Ser LP/P rs1569302985 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012430 p.Asn320Lys LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012431 p.Asn320Tyr LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012432 p.Gln321Glu LP/P rs730880439 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012433 p.Trp340Arg LP/P rs1555984869 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012434 p.Glu341Lys LP/P rs869312214 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012435 p.Arg363His LP/P rs111422676 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012436 p.Gly373Asp LP/P rs869312227 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012437 p.Gly373Ser LP/P rs727504348 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012438 p.Ala377Asp LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012439 p.Cys378Tyr LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012440 p.Pro409Ala LP/P rs878853698 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012441 p.Pro409Thr LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_032290 p.Ser65Thr LP/P rs104894848 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_032291 p.Asp266His LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_032292 p.Asn272Ser LP/P rs28935495 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_032293 p.Thr410Ala LP/P rs104894852 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062551 p.Met42Leu LP/P rs797044613 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062552 p.Gly43Arg LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062553 p.His46Pro LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062554 p.Asp93Asn LP/P rs869312270 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062555 p.Arg112Ser LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062556 p.Leu120Val LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062557 p.Ala135Val LP/P rs1569304221 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062558 p.Gly171Asp LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062559 p.Ser201Phe LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062560 p.Ile219Thr LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062561 p.Asp234Glu LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062562 p.Asp264Tyr LP/P rs190347120 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062563 p.Ser276Gly LP/P rs869312432 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062564 p.Ala285Pro LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062565 p.Leu300Phe LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062566 p.Gly328Val LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062567 p.Glu338Lys LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062568 p.Arg356Gln LP/P rs869312163 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062569 p.Glu358Ala LP/P rs869312224 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062570 p.Gly360Cys LP/P rs782598150 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062571 p.Leu414Ser LP/P rs869312246 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_076478 p.Trp47Arg LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077365 p.Leu3Pro LB/B rs150547672 - GLA P06280 VAR_077366 p.Leu3Val LB/B rs869312133 - GLA P06280 VAR_077367 p.Ala20Asp LP/P rs869312134 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077368 p.Leu21Pro LP/P rs869312135 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077369 p.Asp33Gly US rs869312136 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077370 p.Gly35Glu US rs869312137 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077371 p.Leu36Trp LP/P rs869312138 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077372 p.Met42Thr LP/P rs398123201 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077373 p.Leu45Pro LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077374 p.Glu48Asp LP/P rs869312254 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077375 p.Pro60Leu US rs869312262 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077376 p.Ile64Phe LP/P rs869312139 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077377 p.Glu71Gly LB/B rs781927744 - GLA P06280 VAR_077378 p.Gly80Asp US rs781838005 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077379 p.Tyr86His LP/P rs869312140 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077380 p.Ile91Asn LP/P rs869312141 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077381 p.Phe113Ile US rs869312142 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077382 p.Ala121Thr US rs782197638 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077383 p.Ile154Thr LB/B rs869312143 - GLA P06280 VAR_077384 p.Val164Gly LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077385 p.Val164Leu US rs869312144 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077386 p.Leu167Gln LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077387 p.Leu180Phe US rs869312145 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077388 p.Met187Ile LP/P rs869312146 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077389 p.Arg196Ser US rs869312147 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077390 p.Ile198Thr US rs727503950 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077391 p.Trp204Arg LP/P rs869312148 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077392 p.Lys213Arg US rs869312149 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077393 p.Pro214Leu US rs869312150 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077394 p.Ile219Met US rs869312151 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077395 p.Arg227Pro LP/P rs104894840 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077396 p.Asn228Ser US rs869312152 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077397 p.Ile242Val US rs397515873 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077398 p.Leu243Phe US rs397515874 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077399 p.Ser247Pro LP/P rs869312393 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077400 p.Asn249Lys US - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077401 p.Ile253Thr US rs727505292 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077402 p.Val254Ala US rs869312153 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077403 p.Trp262Arg LP/P rs869312154 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077404 p.Val269Gly LP/P rs28935488 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077405 p.Ile289Val LB/B rs140329381 - GLA P06280 VAR_077406 p.Ala309Val US rs869312155 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077407 p.Asp313Asn LB/B rs28935490 - GLA P06280 VAR_077408 p.Asp315Asn US rs869312156 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077409 p.Val316Ala US rs869312157 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077410 p.Ile317Ser LP/P rs869312158 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077411 p.Pro323Arg US rs869312159 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077412 p.Gln327Leu LP/P rs869312160 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077413 p.Gln327Arg LP/P rs869312160 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077414 p.Gln330Arg US rs869312161 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077415 p.Arg342Pro LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077416 p.Ala352Gly US rs869312162 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077417 p.Arg356Pro LP/P rs869312163 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077418 p.Gly360Ser LP/P - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077419 p.Gly375Ala US rs869312164 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077420 p.Arg392Ser US rs869312165 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_077421 p.Trp399Ser US rs782449839 Fabry disease (FD) [MIM:301500] GLB1 P16278 VAR_003329 p.Arg49Cys LP/P rs72555358 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_003329 p.Arg49Cys LP/P rs72555358 GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_003330 p.Ile51Thr LP/P rs72555390 GM1-gangliosidosis 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_003331 p.Gly123Arg LP/P rs28934274 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_003332 p.Arg201Cys LP/P rs72555360 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_003332 p.Arg201Cys LP/P rs72555360 GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_003333 p.Trp273Leu LP/P rs72555362 Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_003334 p.Tyr316Cys LP/P rs72555361 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_003335 p.Arg457Gln LP/P rs28934886 GM1-gangliosidosis 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_003336 p.Arg482His LP/P rs72555391 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_003336 p.Arg482His LP/P rs72555391 Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_003337 p.Trp509Cys LP/P rs72555363 Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_008671 p.Pro10Leu LB/B rs7637099 - GLB1 P16278 VAR_008672 p.Arg59His LP/P rs72555392 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008673 p.Thr82Met LP/P rs72555393 GM1-gangliosidosis 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_008674 p.Tyr83His LP/P rs72555364 Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_008675 p.Arg121Ser LP/P rs879050821 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008676 p.Arg208Cys LP/P rs72555366 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008677 p.Val240Met LP/P - GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008678 p.Arg482Cys LP/P rs72555365 Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_008679 p.Asp491Asn LP/P rs780232995 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008680 p.Arg521Cys LP/P rs4302331 GM1-gangliosidosis 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_008681 p.Ser532Gly LB/B rs73826339 - GLB1 P16278 VAR_008682 p.Lys578Arg LP/P rs371582179 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008683 p.Arg590His LP/P rs398123351 GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_008684 p.Tyr591Cys LP/P rs72555371 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008685 p.Tyr591Asn LP/P rs72555373 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008686 p.Glu632Gly LP/P - GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_013541 p.Arg148Ser LP/P rs192732174 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_013542 p.Arg201His LP/P rs189115557 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_013542 p.Arg201His LP/P rs189115557 GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_013543 p.Asp214Tyr LP/P - GM1-gangliosidosis 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_013544 p.Val216Ala LP/P rs886042815 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_013545 p.Pro263Ser LP/P - GM1-gangliosidosis 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_013546 p.Asn266Ser LP/P rs1214295886 GM1-gangliosidosis 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_013547 p.Tyr270Asp LP/P rs376663785 GM1-gangliosidosis 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_013548 p.His281Tyr LP/P rs745386663 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_013548 p.His281Tyr LP/P rs745386663 GM1-gangliosidosis 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_013549 p.Asp332Asn LP/P rs781658798 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_013550 p.Gln408Pro LP/P rs72555369 Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_013551 p.Gly438Glu LP/P rs72555367 GM1-gangliosidosis 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_013551 p.Gly438Glu LP/P rs72555367 Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_013552 p.Asn484Lys LP/P rs968221254 Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_013553 p.Gly494Cys LP/P rs1312626201 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_013554 p.Thr500Ala LP/P rs72555368 Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_013555 p.Gly579Asp LP/P rs746350513 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_013555 p.Gly579Asp LP/P rs746350513 GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_026129 p.Arg59Cys LP/P rs756878418 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_026130 p.Arg68Trp LP/P rs72555370 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_026130 p.Arg68Trp LP/P rs72555370 GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_026131 p.Asp151Tyr LP/P - GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_026132 p.Thr239Met LP/P rs746766232 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_026133 p.Leu436Phe LB/B rs34421970 - GLB1 P16278 VAR_037937 p.Gly134Val LP/P rs773562141 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_037939 p.Leu155Arg LP/P rs376710410 GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_037939 p.Leu155Arg LP/P rs376710410 GM1-gangliosidosis 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_037940 p.Leu162Ser LP/P - GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_037942 p.Ser434Leu LB/B rs267599773 - GLB1 P16278 VAR_037943 p.Asp491Tyr LP/P - GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_037944 p.Pro549Leu LP/P rs776327443 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_037945 p.Gly554Glu US - - GLB1 P16278 VAR_037946 p.Arg590Cys LP/P rs794727165 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_037947 p.Arg595Trp LB/B rs201807974 - GLB1 P16278 VAR_038346 p.Gly272Asp LP/P - GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_053875 p.Arg109Trp LB/B rs35289681 - GLB1 P16278 VAR_062340 p.Arg49His LP/P rs780523881 GM1-gangliosidosis 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_062341 p.Arg68Gln LP/P rs572237881 GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_062342 p.Lys73Glu LP/P - GM1-gangliosidosis 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_062343 p.Tyr83Cys LP/P rs1553612220 Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_062344 p.Met132Thr LP/P rs1553612189 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062345 p.Pro136Ser LP/P rs747305905 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062346 p.Arg148Cys LP/P rs192732174 GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_062346 p.Arg148Cys LP/P rs192732174 GM1-gangliosidosis 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_062347 p.Ser149Phe LP/P rs778700089 Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_062348 p.Asp151Val LP/P - GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062349 p.Leu173Pro LP/P rs397515617 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062350 p.Gln184Arg LP/P - GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062351 p.Gly190Asp LP/P rs756575833 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062352 p.Asp198Tyr LP/P - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_062353 p.Tyr199Cys LP/P - GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062354 p.Gln255His LP/P rs1553610553 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062355 p.Leu264Ser LP/P - GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_062356 p.Asn318His US - GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062357 p.Thr329Ile LP/P - GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062358 p.Asp332Glu LP/P - GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062359 p.Tyr333His LP/P - GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_062360 p.Lys346Asn LP/P rs749980306 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062361 p.Tyr347Cys LP/P - GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062362 p.Pro397Ala LP/P - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_062363 p.Thr420Lys LP/P - GM1-gangliosidosis 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_062364 p.Thr420Pro LP/P rs200181401 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062365 p.Leu422Arg LP/P rs758203004 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062366 p.Asp441Asn LP/P rs780724173 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062367 p.Arg442Gln LP/P rs564428355 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062368 p.Tyr444Cys LP/P - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_062369 p.Gly494Ser LP/P - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_062370 p.Pro597Ser LP/P - GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_074054 p.Glu129Gln LB/B rs886042079 - GLB1 P16278 VAR_074055 p.Gly134Arg US - GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_074056 p.Leu236Pro LP/P - GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_074057 p.Gly262Glu LP/P rs377174858 GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_074058 p.Leu297Phe LP/P - GM1-gangliosidosis 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_074059 p.Phe314Leu LP/P - GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_074060 p.Tyr331Cys US - GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_074061 p.Leu337Pro LP/P rs752177002 GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_074061 p.Leu337Pro LP/P rs752177002 GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_074062 p.Gly414Val LP/P - GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_074063 p.Lys493Asn LP/P rs1172435886 GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_074064 p.Leu514Pro LP/P - GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_074065 p.Pro597Leu LP/P - GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_074066 p.Thr600Ile LP/P - GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1L3 Q8NCI6 VAR_031477 p.Arg163Pro LB/B rs472287 - GLB1L3 Q8NCI6 VAR_031478 p.Val474Met LB/B rs2509062 - GLCE O94923 VAR_055837 p.Met65Val LB/B rs12440300 - GLCE O94923 VAR_057958 p.Val597Ile LB/B rs3865014 - GLDC P23378 VAR_004979 p.Ser564Ile LP/P rs121964974 Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_016849 p.Ala283Pro LP/P rs386833589 Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_016850 p.Pro329Thr LB/B rs386833593 - GLDC P23378 VAR_016851 p.Arg515Ser LP/P rs121964976 Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078776 p.Thr146Lys LP/P rs376578742 Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078777 p.Leu173Pro LP/P - Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078778 p.Pro267Ala LP/P rs1554648117 Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078779 p.Arg362Cys LP/P rs10975674 Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078780 p.Arg373Trp LP/P rs150171524 Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078781 p.Lys376Glu LP/P rs774093619 Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078782 p.Arg461Trp LP/P rs761957837 Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078783 p.Leu548Pro LP/P - Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078784 p.His580Tyr LP/P - Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078785 p.Pro581Arg LP/P rs772871471 Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078786 p.Ala624Asp LP/P - Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078787 p.Gly763Asp LP/P rs1374110692 Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078788 p.Gly768Glu LP/P - Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078789 p.Arg790Trp LP/P rs386833556 Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078790 p.Asp866His LP/P - Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078791 p.Val905Gly LP/P rs188269735 Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078792 p.Ile933Thr LP/P rs758029533 Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_078793 p.Gly994Arg LP/P rs1406713104 Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_079313 p.Tyr839Cys LP/P - Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDN Q6ZMI3 VAR_027039 p.Ser141Asn LB/B rs17648128 - GLDN Q6ZMI3 VAR_050424 p.Ser265Asn LB/B rs17648128 - GLDN Q6ZMI3 VAR_061484 p.Asp351Asn LB/B rs35223886 - GLDN Q6ZMI3 VAR_078545 p.Ala32Glu LP/P rs779432560 Lethal congenital contracture syndrome 11 (LCCS11) [MIM:617194] GLDN Q6ZMI3 VAR_078546 p.Ala475Pro LP/P rs764239923 Lethal congenital contracture syndrome 11 (LCCS11) [MIM:617194] GLE1 Q53GS7 VAR_024056 p.Gly130Asp LB/B rs17852725 - GLE1 Q53GS7 VAR_024057 p.Ile243Val LB/B rs2275260 - GLE1 Q53GS7 VAR_024058 p.Arg590Gln LB/B rs17856852 - GLE1 Q53GS7 VAR_043875 p.Arg569His LP/P rs121434407 Lethal congenital contracture syndrome 1 (LCCS1) [MIM:253310] GLE1 Q53GS7 VAR_043876 p.Val617Met LP/P rs121434408 Congenital arthrogryposis with anterior horn cell disease (CAAHD) [MIM:611890] GLE1 Q53GS7 VAR_043877 p.Ile684Thr LP/P rs121434409 Congenital arthrogryposis with anterior horn cell disease (CAAHD) [MIM:611890] GLI1 P08151 VAR_015114 p.Asp884Ala LB/B - - GLI1 P08151 VAR_015115 p.Gly933Asp LB/B rs2228224 - GLI1 P08151 VAR_015116 p.Glu1100Gln LB/B rs2228226 - GLI1 P08151 VAR_035557 p.Pro210Ala US - A breast cancer sample GLI1 P08151 VAR_035558 p.Thr514Ile US - A breast cancer sample GLI1 P08151 VAR_035559 p.Glu817Gln US - A breast cancer sample GLI1 P08151 VAR_052723 p.Gly1012Val LB/B rs2229300 - GLI1 P08151 VAR_082590 p.Leu506Gln US rs753690500 Polydactyly, preaxial 1 (PPD1) [MIM:174400] GLI2 P10070 VAR_032975 p.Arg479Gly US rs121917708 Holoprosencephaly 9 (HPE9) [MIM:610829] GLI2 P10070 VAR_032976 p.Pro932Ser US rs1272759660 Holoprosencephaly 9 (HPE9) [MIM:610829] GLI2 P10070 VAR_032977 p.Met1444Ile LB/B rs146467786 - GLI2 P10070 VAR_032978 p.Pro1554Leu US rs767802807 Holoprosencephaly 9 (HPE9) [MIM:610829] GLI2 P10070 VAR_047303 p.Asp449His LB/B rs13427953 - GLI2 P10070 VAR_047304 p.Ser579Ile LB/B rs12618388 - GLI2 P10070 VAR_047305 p.Pro625Ser LB/B rs3099537 - GLI2 P10070 VAR_047306 p.Ala1156Ser LB/B rs3738880 - GLI2 P10070 VAR_047307 p.Asp1306Asn LB/B rs12711538 - GLI2 P10070 VAR_071700 p.Pro608Leu LP/P rs149800897 Culler-Jones syndrome (CJS) [MIM:615849] GLI2 P10070 VAR_075214 p.Arg516Pro LP/P - Culler-Jones syndrome (CJS) [MIM:615849] GLI2 P10070 VAR_075215 p.Met1352Val LB/B rs149140724 - GLI2 P10070 VAR_075217 p.Asp1520Asn LB/B rs114814747 - GLI2 P10070 VAR_075218 p.Arg1543His LB/B rs138987487 - GLI3 P10071 VAR_009876 p.Gly727Arg LP/P rs121917710 Polydactyly, postaxial A1 (PAPA1) [MIM:174200] GLI3 P10071 VAR_009876 p.Gly727Arg LP/P rs121917710 Polydactyly, postaxial B (PAPB) [MIM:174200] GLI3 P10071 VAR_010052 p.Asp440Glu LB/B - - GLI3 P10071 VAR_010053 p.Cys515Gly LP/P - Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] GLI3 P10071 VAR_010054 p.Cys520Tyr LP/P - Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] GLI3 P10071 VAR_010055 p.Pro707Ser LP/P rs121917716 Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] GLI3 P10071 VAR_010056 p.Ile808Met LB/B rs62622373 - GLI3 P10071 VAR_010057 p.Arg1537Cys LB/B rs35364414 - GLI3 P10071 VAR_021481 p.Arg625Trp LP/P rs121917712 Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] GLI3 P10071 VAR_021482 p.Ala934Pro LP/P rs28933372 Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] GLI3 P10071 VAR_028276 p.Thr183Ala LB/B rs846266 - GLI3 P10071 VAR_028278 p.Pro998Leu LB/B rs929387 - GLI3 P10071 VAR_034865 p.Gly1336Glu LB/B rs35280470 - GLI3 P10071 VAR_035560 p.Pro169Leu US rs1419861206 A colorectal cancer sample GLI3 P10071 VAR_035561 p.Ser1304Pro US rs1277170270 A colorectal cancer sample GLI4 P10075 VAR_052734 p.Ala180Thr LB/B rs1056148 - GLIPR1 P48060 VAR_048833 p.Arg211Gln LB/B rs3736392 - GLIPR1 P48060 VAR_061128 p.Asp163Glu LB/B rs28932170 - GLIS1 Q8NBF1 VAR_033544 p.Phe157Leu LB/B rs34961060 - GLIS1 Q8NBF1 VAR_047031 p.Thr110Ala LB/B rs4307514 - GLIS1 Q8NBF1 VAR_047032 p.Ala187Gly LB/B rs35227000 - GLIS2 Q9BZE0 VAR_032256 p.Thr492Ala LB/B rs8057701 - GLIS3 Q8NEA6 VAR_031062 p.Pro301Gln LB/B rs6415788 - GLIS3 Q8NEA6 VAR_047148 p.Ser269Pro LB/B rs806052 - GLIS3 Q8NEA6 VAR_047149 p.Pro578Leu LB/B rs10973986 - GLMN Q92990 VAR_061653 p.Leu336Ser LB/B rs35258161 - GLMP Q8WWB7 VAR_031742 p.Val94Ile LB/B rs1570805 - GLMP Q8WWB7 VAR_031743 p.Pro203Ser LB/B rs10908496 - GLMP Q8WWB7 VAR_031744 p.Ile223Val LB/B rs10908495 - GLO1 Q04760 VAR_013481 p.Glu111Ala LB/B rs4746 - GLO1 Q04760 VAR_031078 p.Cys19Tyr LB/B rs17855424 - GLOD4 Q9HC38 VAR_031128 p.Met282Ile LB/B rs17851349 - GLP1R P43220 VAR_015098 p.Leu260Phe LB/B rs1042044 - GLP1R P43220 VAR_018924 p.Pro7Leu LB/B rs10305420 - GLP1R P43220 VAR_018925 p.Arg20Lys LB/B rs10305421 - GLP1R P43220 VAR_018926 p.Arg44His LB/B rs2295006 - GLP1R P43220 VAR_018927 p.Arg131Gln LB/B rs3765467 - GLP1R P43220 VAR_018928 p.Gly168Ser LB/B rs6923761 - GLP1R P43220 VAR_018929 p.Ala316Thr LB/B rs10305492 - GLP1R P43220 VAR_018930 p.Ser333Cys LB/B rs10305493 - GLP1R P43220 VAR_018931 p.Arg421Gln LB/B rs10305510 - GLP2R O95838 VAR_033967 p.His22Leu LB/B rs8072568 - GLP2R O95838 VAR_033968 p.Asp470Asn LB/B rs17681684 - GLP2R O95838 VAR_033969 p.Arg523His LB/B rs16958918 - GLRA1 P23415 VAR_000296 p.Ile272Asn LP/P rs121918409 Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_000297 p.Gln294His LP/P rs121918411 Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_000298 p.Arg299Leu LP/P rs121918408 Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_000299 p.Arg299Gln LP/P rs121918408 Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_000300 p.Lys304Glu LP/P rs121918412 Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_000301 p.Tyr307Cys LP/P rs121918410 Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_010112 p.Pro278Thr LP/P rs121918413 Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_010113 p.Arg280His LP/P rs281864918 Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_010114 p.Arg428His LP/P rs281864919 Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_075418 p.Arg93Trp LP/P rs199547699 Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_075419 p.Arg100Cys LP/P rs1581623910 Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_075420 p.Arg246Trp LP/P rs751659671 Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_075421 p.Gln254Glu LP/P - Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_075422 p.Pro258Ser LP/P - Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_075423 p.Val308Met LP/P - Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_075424 p.Leu319Pro LP/P - Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_075425 p.Asp424Ala LP/P - Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_075426 p.Arg450His LP/P rs200130685 Hyperekplexia 1 (HKPX1) [MIM:149400] GLRA2 P23416 VAR_087062 p.Phe47Ser US - Intellectual developmental disorder, X-linked, syndromic, Pilorge type (MRXSP) [MIM:301076] GLRA2 P23416 VAR_087063 p.Asn136Ser LP/P rs1276905604 Intellectual developmental disorder, X-linked, syndromic, Pilorge type (MRXSP) [MIM:301076] GLRA2 P23416 VAR_087064 p.Arg153Gln LP/P - Intellectual developmental disorder, X-linked, syndromic, Pilorge type (MRXSP) [MIM:301076] GLRA2 P23416 VAR_087065 p.Arg252Cys US rs748764171 Intellectual developmental disorder, X-linked, syndromic, Pilorge type (MRXSP) [MIM:301076] GLRA2 P23416 VAR_087066 p.Ile259Met US - Intellectual developmental disorder, X-linked, syndromic, Pilorge type (MRXSP) [MIM:301076] GLRA2 P23416 VAR_087067 p.Ala288Thr US - Intellectual developmental disorder, X-linked, syndromic, Pilorge type (MRXSP) [MIM:301076] GLRA2 P23416 VAR_087068 p.Thr296Met LP/P rs1601761445 Intellectual developmental disorder, X-linked, syndromic, Pilorge type (MRXSP) [MIM:301076] GLRA2 P23416 VAR_087069 p.Arg350Leu LP/P - Intellectual developmental disorder, X-linked, syndromic, Pilorge type (MRXSP) [MIM:301076] GLRA2 P23416 VAR_087070 p.Pro396Thr US rs368138282 Intellectual developmental disorder, X-linked, syndromic, Pilorge type (MRXSP) [MIM:301076] GLRA2 P23416 VAR_087071 p.Pro400Leu US rs370575329 Intellectual developmental disorder, X-linked, syndromic, Pilorge type (MRXSP) [MIM:301076] GLRA2 P23416 VAR_087072 p.Arg445Gln US rs768735440 Intellectual developmental disorder, X-linked, syndromic, Pilorge type (MRXSP) [MIM:301076] GLRB P48167 VAR_035070 p.Gly251Asp LP/P rs121909749 Hyperekplexia 2 (HKPX2) [MIM:614619] GLRB P48167 VAR_068246 p.Met199Arg LP/P rs398122856 Hyperekplexia 2 (HKPX2) [MIM:614619] GLRB P48167 VAR_075502 p.Leu307Arg LP/P - Hyperekplexia 2 (HKPX2) [MIM:614619] GLRB P48167 VAR_075503 p.Trp332Cys LP/P - Hyperekplexia 2 (HKPX2) [MIM:614619] GLRB P48167 VAR_088405 p.Ala477Pro LP/P - Hyperekplexia 2 (HKPX2) [MIM:614619] GLRX P35754 VAR_049189 p.Asp47Tyr LB/B rs4767 - GLRX2 Q9NS18 VAR_025234 p.Lys95Glu LB/B rs34237236 - GLRX3 O76003 VAR_016875 p.Gln21His LB/B rs13991 - GLRX3 O76003 VAR_016876 p.Pro123Ser LB/B rs2274217 - GLRX5 Q86SX6 VAR_026125 p.Ala146Thr LB/B rs11628901 - GLRX5 Q86SX6 VAR_074550 p.Lys101Gln LP/P rs869312752 Anemia, sideroblastic, 3, pyridoxine-refractory (SIDBA3) [MIM:616860] GLRX5 Q86SX6 VAR_074551 p.Leu148Ser LP/P rs765487627 Anemia, sideroblastic, 3, pyridoxine-refractory (SIDBA3) [MIM:616860] GLS O94925 VAR_049188 p.Ala254Pro LB/B rs16833035 - GLS O94925 VAR_081972 p.Arg272Lys LP/P rs1558972120 Developmental and epileptic encephalopathy 71 (DEE71) [MIM:618328] GLS O94925 VAR_081973 p.Pro313Leu LP/P rs1558973667 Global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) [MIM:618412] GLS O94925 VAR_081974 p.Ser482Cys LP/P rs1558986214 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development (CASGID) [MIM:618339] GLS2 Q9UI32 VAR_031615 p.Leu581Pro LB/B rs2657879 - GLT6D1 Q7Z4J2 VAR_037382 p.His195Arg LB/B rs35762223 - GLT6D1 Q7Z4J2 VAR_037383 p.Pro219Ser LB/B rs17040344 - GLT8D1 Q68CQ7 VAR_032443 p.Arg210His LB/B rs2276812 - GLT8D2 Q9H1C3 VAR_049247 p.Ala37Thr LB/B rs17035120 - GLUD1 P00367 VAR_008666 p.Ser498Leu LP/P rs121909731 Hyperinsulinemic hypoglycemia, familial, 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_008667 p.Gly499Asp LP/P rs121909734 Hyperinsulinemic hypoglycemia, familial, 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_008668 p.Gly499Ser LP/P rs121909733 Hyperinsulinemic hypoglycemia, familial, 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_008669 p.Ser501Pro LP/P rs121909732 Hyperinsulinemic hypoglycemia, familial, 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_008670 p.His507Tyr LP/P rs121909730 Hyperinsulinemic hypoglycemia, familial, 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_009270 p.Arg318Lys LP/P rs121909736 Hyperinsulinemic hypoglycemia, familial, 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_009271 p.Glu349Ala LP/P rs121909735 Hyperinsulinemic hypoglycemia, familial, 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_016760 p.Ser270Cys LP/P - Hyperinsulinemic hypoglycemia, familial, 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_016761 p.Arg274Cys LP/P rs56275071 Hyperinsulinemic hypoglycemia, familial, 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_016762 p.Arg318Thr LP/P - Hyperinsulinemic hypoglycemia, familial, 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_016763 p.Tyr319Cys LP/P rs1554906133 Hyperinsulinemic hypoglycemia, familial, 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_016764 p.Arg322Cys LP/P - Hyperinsulinemic hypoglycemia, familial, 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_016765 p.Arg322His LP/P rs121909737 Hyperinsulinemic hypoglycemia, familial, 6 (HHF6) [MIM:606762] GLUD2 P49448 VAR_048867 p.Ser498Ala LB/B rs9697983 - GLUL P15104 VAR_026560 p.Arg324Cys LP/P rs80358214 Congenital systemic glutamine deficiency (CSGD) [MIM:610015] GLUL P15104 VAR_026561 p.Arg341Cys LP/P rs80358215 Congenital systemic glutamine deficiency (CSGD) [MIM:610015] GLYAT Q6IB77 VAR_031294 p.Ser17Thr LB/B rs10896818 - GLYAT Q6IB77 VAR_031295 p.Asn156Ser LB/B rs675815 - GLYATL2 Q8WU03 VAR_031296 p.Pro82Ser LB/B rs17856514 - GLYATL2 Q8WU03 VAR_031297 p.Glu160Lys LB/B rs11229651 - GLYATL2 Q8WU03 VAR_031298 p.Leu168Ile LB/B rs17851433 - GLYCTK Q8IVS8 VAR_032285 p.Leu170Val LB/B rs35130772 - GLYCTK Q8IVS8 VAR_032286 p.Thr394Ile LB/B rs9813489 - GLYCTK Q8IVS8 VAR_061205 p.Arg27Cys LB/B rs34502608 - GLYCTK Q8IVS8 VAR_065909 p.Phe493Cys LP/P rs121909448 D-glyceric aciduria (D-GA) [MIM:220120] GLYR1 Q49A26 VAR_037403 p.Asn103Asp LB/B rs34176249 - GLYR1 Q49A26 VAR_037404 p.Gln459His LB/B rs2085329 - GLYR1 Q49A26 VAR_037405 p.Tyr531Cys LB/B rs17703111 - GLYR1 Q49A26 VAR_086184 p.Pro496Leu US - - GM2A P17900 VAR_006947 p.Cys138Arg LP/P rs137852797 GM2-gangliosidosis AB (GM2GAB) [MIM:272750] GM2A P17900 VAR_011698 p.Arg169Pro LP/P rs104893892 GM2-gangliosidosis AB (GM2GAB) [MIM:272750] GM2A P17900 VAR_013830 p.Ala19Thr LB/B rs1048719 - GM2A P17900 VAR_036892 p.Ile59Val LB/B rs153477 - GM2A P17900 VAR_036893 p.Met69Val LB/B rs153478 - GMCL2 Q8NEA9 VAR_035924 p.Val275Ala US - A colorectal cancer sample GMEB1 Q9Y692 VAR_051894 p.Val14Ala LB/B rs11557120 - GMFG O60234 VAR_048196 p.Glu122Lys LB/B rs36110047 - GMFG O60234 VAR_048197 p.Glu136Lys LB/B rs34035414 - GMIP Q9P107 VAR_044518 p.Asp641Asn LB/B rs12003 - GML Q99445 VAR_020174 p.Arg54Cys LB/B rs3764795 - GMNN O75496 VAR_024233 p.Asn18Thr LB/B rs1923185 - GMNN O75496 VAR_033959 p.Asn15His LB/B rs34891389 - GMNN O75496 VAR_033960 p.Leu48Phe LB/B rs2307307 - GMNN O75496 VAR_033961 p.Arg54Trp LB/B rs2307306 - GMNN O75496 VAR_053107 p.Ser60Pro LB/B rs2307302 - GMNN O75496 VAR_053108 p.Thr203Met LB/B rs2307303 - GMNN O75496 VAR_076172 p.Lys17Arg LP/P rs864309488 Meier-Gorlin syndrome 6 (MGORS6) [MIM:616835] GMPPA Q96IJ6 VAR_042434 p.Ser21Phe LB/B rs34218609 - GMPPA Q96IJ6 VAR_042435 p.Val156Ala LB/B rs13396066 - GMPPA Q96IJ6 VAR_070203 p.Gly182Asp LP/P rs397518462 Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) [MIM:615510] GMPPA Q96IJ6 VAR_070204 p.Thr334Met LP/P rs774778439 Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) [MIM:615510] GMPPA Q96IJ6 VAR_070205 p.Thr334Pro LP/P rs397518461 Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) [MIM:615510] GMPPA Q96IJ6 VAR_070206 p.Arg390Pro LP/P rs1467274040 Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) [MIM:615510] GMPPA Q96IJ6 VAR_070207 p.Asn401Thr LP/P - Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) [MIM:615510] GMPPB Q9Y5P6 VAR_035372 p.His126Asp LB/B rs34345884 - GMPPB Q9Y5P6 VAR_035373 p.Gln184Arg LB/B rs1466685 - GMPPB Q9Y5P6 VAR_070142 p.Pro22Ser LP/P rs397509424 Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] GMPPB Q9Y5P6 VAR_070143 p.Asp27His LP/P rs142336618 Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] GMPPB Q9Y5P6 VAR_070144 p.Pro32Leu LP/P rs397509426 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B14 (MDDGB14) [MIM:615351] GMPPB Q9Y5P6 VAR_070145 p.Arg185Cys LP/P rs397509425 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B14 (MDDGB14) [MIM:615351] GMPPB Q9Y5P6 VAR_070146 p.Arg287Gln LP/P rs202160208 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B14 (MDDGB14) [MIM:615351] GMPPB Q9Y5P6 VAR_070146 p.Arg287Gln LP/P rs202160208 Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] GMPPB Q9Y5P6 VAR_070147 p.Val330Ile LP/P rs199922550 Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] GMPPB Q9Y5P6 VAR_070148 p.Asp334Asn LP/P rs397509422 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14) [MIM:615350] GMPPB Q9Y5P6 VAR_079761 p.Pro32Ser LP/P - Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] GMPPB Q9Y5P6 VAR_079762 p.Ser132Cys LP/P rs145535498 Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] GMPPB Q9Y5P6 VAR_079763 p.Ile219Thr LP/P rs761714818 Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] GMPPB Q9Y5P6 VAR_079764 p.Pro241Ser LP/P - Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] GMPPB Q9Y5P6 VAR_079765 p.Val254Met LP/P rs875989850 Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] GMPPB Q9Y5P6 VAR_079766 p.Arg287Trp LP/P rs142908436 Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] GMPPB Q9Y5P6 VAR_079767 p.Arg293Trp LP/P rs756682220 Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] GMPPB Q9Y5P6 VAR_079768 p.Val318Ala LP/P rs559784211 Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] GMPPB Q9Y5P6 VAR_079769 p.Asn322Lys LP/P rs781114909 Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] GMPPB Q9Y5P6 VAR_079770 p.Gly340Arg LP/P rs1064796834 Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] GMPPB Q9Y5P6 VAR_079771 p.Arg357His LP/P rs771861177 Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] GMPR P36959 VAR_003969 p.Ala234Thr LB/B rs760571328 - GMPR P36959 VAR_003970 p.Phe256Ile LB/B rs1042391 - GMPR2 Q9P2T1 VAR_049602 p.Gly242Asp LB/B rs34354104 - GNA11 P29992 VAR_070165 p.Arg60Cys LP/P rs587777021 Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361] GNA11 P29992 VAR_070166 p.Leu135Gln LP/P rs587777019 Hypocalciuric hypercalcemia, familial 2 (HHC2) [MIM:145981] GNA11 P29992 VAR_070167 p.Arg181Gln LP/P rs587777020 Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361] GNA11 P29992 VAR_070169 p.Ser211Trp LP/P rs587777022 Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361] GNA11 P29992 VAR_070170 p.Phe341Leu LP/P rs140749796 Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361] GNA12 Q03113 VAR_049359 p.Phe242Leu LB/B rs45606633 - GNA12 Q03113 VAR_049360 p.Tyr330His LB/B rs45583847 - GNA12 Q03113 VAR_071044 p.Ser68Gly LB/B rs11552939 - GNA13 Q14344 VAR_017160 p.Val221Leu LB/B rs1062597 - GNA15 P30679 VAR_028000 p.Cys147Tyr LB/B rs310680 - GNAI1 P63096 VAR_087204 p.Gly40Cys LP/P - Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) [MIM:619854] GNAI1 P63096 VAR_087205 p.Gly40Arg LP/P - Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) [MIM:619854] GNAI1 P63096 VAR_087206 p.Gly45Asp LP/P - Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) [MIM:619854] GNAI1 P63096 VAR_087207 p.Thr48Ile LP/P - Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) [MIM:619854] GNAI1 P63096 VAR_087208 p.Thr48Lys LP/P - Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) [MIM:619854] GNAI1 P63096 VAR_087209 p.Gln52Pro LP/P - Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) [MIM:619854] GNAI1 P63096 VAR_087212 p.Asp173Val LP/P - Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) [MIM:619854] GNAI1 P63096 VAR_087214 p.Cys224Tyr LP/P - Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) [MIM:619854] GNAI1 P63096 VAR_087215 p.Lys270Asn LP/P - Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) [MIM:619854] GNAI1 P63096 VAR_087216 p.Lys270Arg LP/P - Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) [MIM:619854] GNAI1 P63096 VAR_087217 p.Asp272Gly LP/P - Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) [MIM:619854] GNAI1 P63096 VAR_087218 p.Ala326Pro LP/P - Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) [MIM:619854] GNAI1 P63096 VAR_087219 p.Val332Glu US - Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) [MIM:619854] GNAI3 P08754 VAR_068558 p.Gly40Arg LP/P rs387907178 Auriculocondylar syndrome 1 (ARCND1) [MIM:602483] GNAI3 P08754 VAR_088775 p.Gly45Ser LP/P - Auriculocondylar syndrome 1 (ARCND1) [MIM:602483] GNAI3 P08754 VAR_088776 p.Ser47Asn LP/P - Auriculocondylar syndrome 1 (ARCND1) [MIM:602483] GNAI3 P08754 VAR_088777 p.Ser47Arg LP/P - Auriculocondylar syndrome 1 (ARCND1) [MIM:602483] GNAL P38405 VAR_069329 p.Val16Phe LB/B rs1039372506 - GNAL P38405 VAR_069331 p.Val137Met LP/P rs398122923 Dystonia 25 (DYT25) [MIM:615073] GNAL P38405 VAR_069332 p.Glu155Lys LP/P rs398122925 Dystonia 25 (DYT25) [MIM:615073] GNAO1 P09471 VAR_070864 p.Asp174Gly LP/P rs587777055 Developmental and epileptic encephalopathy 17 (DEE17) [MIM:615473] GNAO1 P09471 VAR_070866 p.Gly203Arg LP/P rs587777057 Developmental and epileptic encephalopathy 17 (DEE17) [MIM:615473] GNAO1 P09471 VAR_070867 p.Ile279Asn LP/P rs587777054 Developmental and epileptic encephalopathy 17 (DEE17) [MIM:615473] GNAO1 P09471 VAR_075416 p.Gly40Arg LP/P rs886041715 Developmental and epileptic encephalopathy 17 (DEE17) [MIM:615473] GNAO1 P09471 VAR_075416 p.Gly40Arg LP/P rs886041715 Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] GNAO1 P09471 VAR_077337 p.Arg209Cys LP/P rs886039494 Developmental and epileptic encephalopathy 17 (DEE17) [MIM:615473] GNAO1 P09471 VAR_077337 p.Arg209Cys LP/P rs886039494 Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] GNAO1 P09471 VAR_077338 p.Ala227Val LP/P rs797045599 Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] GNAO1 P09471 VAR_077339 p.Glu246Lys LP/P rs797044951 Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] GNAO1 P09471 VAR_079278 p.Ser47Gly LP/P - Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] GNAO1 P09471 VAR_079279 p.Ile56Thr LP/P - Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] GNAO1 P09471 VAR_079280 p.Arg209Gly LP/P rs886039494 Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] GNAO1 P09471 VAR_079281 p.Arg209His LP/P rs797044878 Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] GNAO1 P09471 VAR_079282 p.Arg209Leu LP/P - Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] GNAO1 P09471 VAR_079283 p.Glu246Gly LP/P rs1114167431 Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] GNAO1 P09471 VAR_087220 p.Gly40Trp US - - GNAO1 P09471 VAR_087221 p.Gln52Pro US - - GNAO1 P09471 VAR_087222 p.Gln52Arg LP/P - Developmental and epileptic encephalopathy 17 (DEE17) [MIM:615473] GNAQ P50148 VAR_059319 p.Glu355Asp LB/B rs1059531 - GNAQ P50148 VAR_067270 p.Arg183Gln LP/P rs397514698 Sturge-Weber syndrome (SWS) [MIM:185300] GNAQ P50148 VAR_067271 p.Gln209Leu LB/B rs121913492 - GNAS P63092 VAR_003439 p.Leu99Pro LP/P rs137854531 Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_003440 p.Arg165Cys LP/P rs137854532 Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_003441 p.Arg201His LP/P rs121913495 ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM:219080] GNAS P63092 VAR_003441 p.Arg201His LP/P rs121913495 McCune-Albright syndrome (MAS) [MIM:174800] GNAS P63092 VAR_003442 p.Arg201Cys LP/P rs11554273 McCune-Albright syndrome (MAS) [MIM:174800] GNAS P63092 VAR_003443 p.Gln227Arg LB/B rs121913494 - GNAS P63092 VAR_003444 p.Arg385His LP/P - Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_015388 p.Arg258Trp LP/P rs137854535 Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_017843 p.Pro115Leu LP/P rs137854539 Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_017844 p.Arg201Gly LP/P rs11554273 McCune-Albright syndrome (MAS) [MIM:174800] GNAS P63092 VAR_017845 p.Arg201Leu US rs121913495 Non-MAS endocrine tumors GNAS P63092 VAR_017846 p.Arg201Ser LP/P rs11554273 ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM:219080] GNAS P63092 VAR_017847 p.Gln227His LB/B rs137854533 - GNAS P63092 VAR_017848 p.Arg231His LP/P rs137854538 Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_017849 p.Ser250Arg LP/P rs137854534 Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_017850 p.Ala366Ser LP/P rs137854537 Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] GNAS P63092 VAR_031872 p.Ile106Ser US - - GNAS P63092 VAR_031873 p.Asp156Asn LP/P - Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] GNAS P63092 VAR_031874 p.Val159Met LP/P - Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] GNAS P63092 VAR_031875 p.Thr242Ile LP/P - Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_031876 p.Phe246Ser LP/P - Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_031877 p.Glu259Val LP/P - Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_031878 p.Arg280Gly LP/P - Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] GNAS P63092 VAR_031879 p.Arg280Lys LP/P - Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] GNAS P63092 VAR_031880 p.Trp281Arg LP/P - Progressive osseous heteroplasia (POH) [MIM:166350] GNAS P63092 VAR_031881 p.Lys338Asn LP/P - Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] GNAS P63092 VAR_049358 p.Arg380Leu LB/B rs8986 - GNAS P63092 VAR_066387 p.Leu388Arg LP/P rs397514457 Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] GNAS P63092 VAR_066388 p.Glu392Lys LP/P rs397514456 Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] GNAS P84996 VAR_028774 p.Pro374Thr LP/P rs1376506169 GNAS hyperfunction (GNASHYP) [MIM:139320] GNAS P84996 VAR_028776 p.Leu397Val LP/P - GNAS hyperfunction (GNASHYP) [MIM:139320] GNAS P84996 VAR_035788 p.Arg201Cys US - A colorectal cancer sample GNAS P84996 VAR_035789 p.Arg201His US - A colorectal cancer sample GNAS Q5JWF2 VAR_028777 p.Ala436Asp LP/P rs61749698 GNAS hyperfunction (GNASHYP) [MIM:139320] GNAS Q5JWF2 VAR_028779 p.Pro459Arg LP/P rs148033592 GNAS hyperfunction (GNASHYP) [MIM:139320] GNAS Q5JWF2 VAR_059656 p.Arg1023Leu LB/B rs8986 - GNAT1 P11488 VAR_009279 p.Gly38Asp LP/P rs104893740 Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3) [MIM:610444] GNAT1 P11488 VAR_073798 p.Asp129Gly LP/P rs786205854 Night blindness, congenital stationary, 1G (CSNB1G) [MIM:616389] GNAT1 P11488 VAR_073799 p.Gln200Glu LP/P rs786205853 Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3) [MIM:610444] GNAT2 P19087 VAR_014783 p.Gly183Asp LB/B rs1799940 - GNAT2 P19087 VAR_047623 p.Leu107Ile LB/B rs3738766 - GNAT2 P19087 VAR_047624 p.Val124Met LB/B rs41280330 - GNB1 P62873 VAR_076643 p.Asp76Gly LP/P rs869312821 Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_076644 p.Asp76Glu LP/P rs869312822 Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_076645 p.Gly77Ser LP/P rs758432471 Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_076646 p.Lys78Arg LP/P rs869312823 Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_076647 p.Ile80Asn LP/P rs752746786 Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_076648 p.Ile80Thr LP/P rs752746786 Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_076649 p.Leu95Pro LP/P rs869312824 Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_076650 p.Met101Val LP/P rs869312825 Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_076651 p.Ala326Thr LP/P rs869312826 Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_078279 p.Leu30Phe US rs764997309 Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_078280 p.Arg52Gly LP/P - Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_078281 p.Gly64Val LP/P - Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_078282 p.His91Arg US - Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_078283 p.Ala92Thr LP/P - Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_078284 p.Pro94Ser LP/P - Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_078285 p.Arg96Leu LP/P - Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_078286 p.Ala106Thr LP/P - Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_078287 p.Asp118Gly LP/P rs1553194162 Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1 P62873 VAR_078288 p.Lys337Gln US - Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1L Q9BYB4 VAR_024698 p.Trp239Gly LB/B rs2073770 - GNB1L Q9BYB4 VAR_035882 p.Ala296Thr US rs61758989 A breast cancer sample GNB1L Q9BYB4 VAR_053394 p.Glu30Lys LB/B rs35178436 - GNB1L Q9BYB4 VAR_053395 p.Arg37His LB/B rs5748449 - GNB2 P62879 VAR_086042 p.Arg52Leu LP/P - Sick sinus syndrome 4 (SSS4) [MIM:619464] GNB2 P62879 VAR_086043 p.Ala73Thr LP/P - Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) [MIM:619503] GNB2 P62879 VAR_086044 p.Gly77Arg LP/P - Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) [MIM:619503] GNB2 P62879 VAR_086045 p.Gly77Trp LP/P - Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) [MIM:619503] GNB2 P62879 VAR_086046 p.Lys89Glu LP/P - Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) [MIM:619503] GNB2 P62879 VAR_086047 p.Lys89Thr LP/P - Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) [MIM:619503] GNB2 P62879 VAR_086048 p.Ser147Leu LP/P - Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) [MIM:619503] GNB3 P16520 VAR_014756 p.Asp76Asn LB/B rs2234756 - GNB3 P16520 VAR_014757 p.Gly272Ser LB/B rs5442 - GNB3 P16520 VAR_014758 p.Trp339Leu LB/B rs5444 - GNB3 P16520 VAR_029304 p.Leu280Phe LB/B rs28395776 - GNB3 P16520 VAR_029305 p.Gly324Glu LB/B rs28395775 - GNB3 P16520 VAR_049268 p.Val40Met LB/B rs45569331 - GNB3 P16520 VAR_049269 p.Val81Met LB/B rs45616032 - GNB3 P16520 VAR_077013 p.Ser67Phe US rs140263599 Night blindness, congenital stationary, 1H (CSNB1H) [MIM:617024] GNB4 Q9HAV0 VAR_069908 p.Gly53Asp LP/P rs387907340 Charcot-Marie-Tooth disease, dominant intermediate F (CMTDIF) [MIM:615185] GNB4 Q9HAV0 VAR_069909 p.Lys89Glu LP/P rs387907341 Charcot-Marie-Tooth disease, dominant intermediate F (CMTDIF) [MIM:615185] GNB5 O14775 VAR_049270 p.Ala213Val LB/B rs34637551 - GNB5 O14775 VAR_077994 p.Ser123Leu LP/P rs761399728 Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (LDMLS2) [MIM:617182] GNE Q9Y223 VAR_017945 p.Pro36Leu LP/P - Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017946 p.Ile200Phe US rs369328625 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017947 p.Asp225Asn LP/P rs121908630 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017948 p.Arg246Gln LP/P rs121908629 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017949 p.Arg246Trp LP/P rs773729410 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017950 p.Arg263Leu LP/P rs121908623 Sialuria (SIALURIA) [MIM:269921] GNE Q9Y223 VAR_017951 p.Arg266Gln LP/P rs121908622 Sialuria (SIALURIA) [MIM:269921] GNE Q9Y223 VAR_017952 p.Arg266Trp LP/P rs121908621 Sialuria (SIALURIA) [MIM:269921] GNE Q9Y223 VAR_017953 p.Cys303Val LP/P rs121908633 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017954 p.Asp378Tyr LP/P rs199877522 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017955 p.Ala460Val LP/P rs121908631 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017956 p.Ala524Val LP/P rs764698870 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017957 p.Phe528Cys LP/P rs986773986 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017958 p.Ile557Thr LP/P rs886043979 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017959 p.Val572Leu LP/P rs121908632 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017960 p.Gly576Glu LP/P rs121908625 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017961 p.Ile587Thr LP/P rs748949603 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017962 p.Ala631Thr LP/P rs121908626 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017963 p.Ala631Val LP/P rs62541771 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017964 p.Tyr675His LP/P rs1191857860 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017965 p.Val696Met LP/P rs121908627 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017966 p.Met712Thr LP/P rs28937594 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021771 p.Pro27Ser LP/P rs1554664064 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021772 p.His132Gln LP/P - Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021773 p.Arg162Cys LP/P rs769215411 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021774 p.Met171Val LP/P rs121908634 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021775 p.Asp176Val LP/P rs139425890 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021776 p.Arg177Cys LP/P rs539332585 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021777 p.Gly206Ser LP/P rs766266918 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021778 p.Val216Ala LP/P rs779694939 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021779 p.Arg306Gln LP/P rs1455785164 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021780 p.Val331Ala LP/P - Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021781 p.Ile472Thr LP/P - Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021782 p.Asn519Ser LP/P rs1554658910 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021783 p.Ala600Thr LP/P rs387906347 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021784 p.Ala630Thr LP/P rs1382191649 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_087335 p.Cys13Ser LP/P rs1209266607 Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_087336 p.Gly708Ser LP/P rs1554657922 Nonaka myopathy (NM) [MIM:605820] GNGT1 P63211 VAR_033949 p.Glu50Lys LB/B rs17243826 - GNGT2 O14610 VAR_049271 p.Leu11Phe LB/B rs9895097 - GNL2 Q13823 VAR_050291 p.Gln452His LB/B rs12025870 - GNL3 Q9BVP2 VAR_022160 p.Arg39Gln LB/B rs11177 - GNL3 Q9BVP2 VAR_022161 p.Val367Met LB/B rs2289247 - GNL3L Q9NVN8 VAR_049495 p.Arg320His LB/B rs2298284 - GNLY P22749 VAR_027868 p.Thr119Ile LB/B rs11127 - GNMT Q14749 VAR_012766 p.Leu50Pro LP/P rs121907888 Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664] GNMT Q14749 VAR_012767 p.His177Asn LP/P rs121907889 Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664] GNMT Q14749 VAR_019840 p.Asn141Ser LP/P rs864321678 Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664] GNPAT O15228 VAR_006357 p.Arg211Cys LP/P rs121434440 Rhizomelic chondrodysplasia punctata 2 (RCDP2) [MIM:222765] GNPAT O15228 VAR_006358 p.Arg211His LP/P rs121434439 Rhizomelic chondrodysplasia punctata 2 (RCDP2) [MIM:222765] GNPAT O15228 VAR_025897 p.Asp519Gly LP/P rs11558492 Rhizomelic chondrodysplasia punctata 2 (RCDP2) [MIM:222765] GNPAT O15228 VAR_030696 p.Val495Ile LB/B rs11122266 - GNPAT O15228 VAR_030697 p.Tyr586His LB/B rs17849315 - GNPDA2 Q8TDQ7 VAR_044348 p.Pro182Ser LB/B rs17851302 - GNPNAT1 Q96EK6 VAR_086302 p.Glu76Lys LP/P - Rhizomelic dysplasia, Ain-Naz type (RHZDAN) [MIM:619598] GNPTAB Q3T906 VAR_025416 p.Asp407Ala LP/P rs137852895 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_025417 p.Ala662Gly LB/B rs142172397 - GNPTAB Q3T906 VAR_027509 p.Lys4Gln LP/P rs34159654 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_027510 p.Ile348Leu US rs7958709 Mucolipidosis type II (MLII) [MIM:252500] GNPTAB Q3T906 VAR_027511 p.Lys1236Met LP/P - Mucolipidosis type II (MLII) [MIM:252500] GNPTAB Q3T906 VAR_053545 p.Asp190Val US rs34946266 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_062807 p.Phe374Leu LP/P rs137852900 Mucolipidosis type II (MLII) [MIM:252500] GNPTAB Q3T906 VAR_062807 p.Phe374Leu LP/P rs137852900 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_062808 p.Ser399Phe LP/P rs281865026 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_062809 p.Ile403Thr LP/P rs281864973 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_062810 p.Cys442Tyr LP/P rs281864975 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_062811 p.Cys461Gly LP/P rs281864977 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_062812 p.Gln926Pro LP/P rs281865002 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_062813 p.His956Tyr LP/P rs281865004 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_062814 p.Leu1001Pro LP/P rs281865006 Mucolipidosis type II (MLII) [MIM:252500] GNPTAB Q3T906 VAR_062815 p.Asn1153Ser LP/P rs281865019 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_070831 p.Trp81Leu LP/P rs281864953 Mucolipidosis type II (MLII) [MIM:252500] GNPTAB Q3T906 VAR_070831 p.Trp81Leu LP/P rs281864953 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_070832 p.Cys505Tyr US rs281864980 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_070833 p.Lys732Asn LP/P rs281864989 Mucolipidosis type II (MLII) [MIM:252500] GNPTAB Q3T906 VAR_070834 p.Arg986Cys LP/P rs769587233 Mucolipidosis type II (MLII) [MIM:252500] GNPTAB Q3T906 VAR_073124 p.Ser15Tyr US rs281864947 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_073125 p.Val182Asp US rs281864958 Mucolipidosis type II (MLII) [MIM:252500] GNPTAB Q3T906 VAR_073126 p.Gln205Pro US rs281864959 Mucolipidosis type II (MLII) [MIM:252500] GNPTAB Q3T906 VAR_073127 p.Arg334Leu LP/P rs281864970 Mucolipidosis type II (MLII) [MIM:252500] GNPTAB Q3T906 VAR_073128 p.Arg334Gln LP/P rs281864970 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_073129 p.Cys468Ser LP/P rs281864979 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_073130 p.Cys523Arg US - - GNPTAB Q3T906 VAR_073131 p.Arg587Pro LP/P rs143788461 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_073132 p.Ala592Thr US rs149390820 - GNPTAB Q3T906 VAR_073133 p.Leu785Trp US rs144060383 - GNPTAB Q3T906 VAR_073134 p.Lys928Arg US rs281865003 Mucolipidosis type II (MLII) [MIM:252500] GNPTAB Q3T906 VAR_073135 p.Ala955Val US rs138390866 Mucolipidosis type II (MLII) [MIM:252500] GNPTAB Q3T906 VAR_073136 p.His956Arg US rs281865005 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_073137 p.Asp1018Gly US rs281865007 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_073138 p.Leu1054Val US rs281865010 Mucolipidosis type II (MLII) [MIM:252500] GNPTAB Q3T906 VAR_073219 p.Ala455Ser US rs137853822 - GNPTAB Q3T906 VAR_073220 p.Phe625Leu US rs137853823 - GNPTAB Q3T906 VAR_073221 p.Glu1200Lys LB/B rs137853825 - GNPTAB Q3T906 VAR_074206 p.Gly575Arg LP/P - Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_074207 p.Thr644Met LP/P rs386765812 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_079713 p.Asp76Gly LP/P - Mucolipidosis type II (MLII) [MIM:252500] GNPTAB Q3T906 VAR_079715 p.Ser385Leu LP/P - Mucolipidosis type II (MLII) [MIM:252500] GNPTG Q9UJJ9 VAR_070816 p.Cys142Tyr LP/P - Mucolipidosis type III complementation group C (MLIIIC) [MIM:252605] GNPTG Q9UJJ9 VAR_073223 p.Ala25Glu US rs137853826 - GNPTG Q9UJJ9 VAR_073224 p.Leu230Val US rs137853827 - GNPTG Q9UJJ9 VAR_077164 p.Gly106Ser LP/P rs137852885 Mucolipidosis type III complementation group C (MLIIIC) [MIM:252605] GNPTG Q9UJJ9 VAR_077165 p.Gly126Ser LP/P rs775359476 Mucolipidosis type III complementation group C (MLIIIC) [MIM:252605] GNPTG Q9UJJ9 VAR_077166 p.Thr286Met LB/B rs193302860 - GNRH1 P01148 VAR_013943 p.Trp16Ser LB/B rs6185 - GNRH1 P01148 VAR_069966 p.Arg31Cys US - Hypogonadotropic hypogonadism 12 with or without anosmia (HH12) [MIM:614841] GNRH2 O43555 VAR_053109 p.Ala16Val LB/B rs6051545 - GNRHR P30968 VAR_019311 p.Asn10Lys LP/P rs104893843 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019312 p.Glu90Lys LP/P rs104893844 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019313 p.Gln106Arg LP/P rs104893836 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019314 p.Ala129Asp LP/P rs104893838 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019315 p.Arg139His LP/P rs104893842 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019316 p.Ser168Arg LP/P rs104893840 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019317 p.Ala171Thr LP/P rs74452732 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019318 p.Ser217Arg LP/P rs104893839 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019319 p.Arg262Gln US rs104893837 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019320 p.Tyr284Cys LP/P rs28933074 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_069960 p.Leu83Val LP/P rs1391808526 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_072970 p.Asn18Ser LP/P rs774317793 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_072971 p.Ile37Ser LP/P rs886907903 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_072972 p.Glu90Asp LP/P - Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_072973 p.Pro146Ser LP/P rs144900788 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_072974 p.Leu266Arg US rs148499544 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNS P15586 VAR_064070 p.Ser94Ile LP/P - Mucopolysaccharidosis 3D (MPS3D) [MIM:252940] GNS P15586 VAR_064072 p.Lys340Arg LP/P - Mucopolysaccharidosis 3D (MPS3D) [MIM:252940] GNS P15586 VAR_064073 p.Gly418Glu LP/P - Mucopolysaccharidosis 3D (MPS3D) [MIM:252940] GOLGA1 Q92805 VAR_047842 p.Asn220Ser LB/B rs35237091 - GOLGA1 Q92805 VAR_047843 p.Leu317Val LB/B rs583134 - GOLGA1 Q92805 VAR_047844 p.Thr425Met LB/B rs634710 - GOLGA2 Q08379 VAR_033974 p.Arg902Gly LB/B rs2240961 - GOLGA2P5 Q9HBQ8 VAR_038142 p.Ala110Val LB/B rs12370675 - GOLGA3 Q08378 VAR_020153 p.Gly70Glu LB/B rs2291256 - GOLGA3 Q08378 VAR_020154 p.Lys1185Arg LB/B rs2291260 - GOLGA3 Q08378 VAR_021901 p.Pro264Leu LB/B rs3741486 - GOLGA4 Q13439 VAR_033975 p.Gln1028Lys LB/B rs11718848 - GOLGA4 Q13439 VAR_033976 p.Asn1552Ser LB/B rs9840779 - GOLGA4 Q13439 VAR_049258 p.Arg2058Ser LB/B rs11924014 - GOLGA5 Q8TBA6 VAR_055859 p.Ala67Gly LB/B rs17128572 - GOLGA5 Q8TBA6 VAR_055860 p.Met486Val LB/B rs34139657 - GOLGA6A Q9NYA3 VAR_047540 p.Trp200Arg LB/B rs2018461 - GOLGA6B A6NDN3 VAR_042994 p.Arg200Trp LB/B rs2081561 - GOLGA6L2 Q8N9W4 VAR_039173 p.Arg43Gly LB/B rs2344900 - GOLGA6L2 Q8N9W4 VAR_039174 p.Asn54His LB/B rs3866720 - GOLGA6L2 Q8N9W4 VAR_039175 p.Glu64Gly LB/B rs2344899 - GOLGA6L2 Q8N9W4 VAR_039176 p.Trp191Arg LB/B rs4778531 - GOLGA6L2 Q8N9W4 VAR_039177 p.Arg235Pro LB/B rs12594944 - GOLGA8A A7E2F4 VAR_064650 p.Lys480Asn LB/B rs347880 - GOLGA8A A7E2F4 VAR_064651 p.Ser530Asn LB/B rs238639 - GOLGA8A A7E2F4 VAR_064652 p.Arg541Gln LB/B rs347879 - GOLGB1 Q14789 VAR_020155 p.Thr911Ser LB/B rs3732407 - GOLGB1 Q14789 VAR_020156 p.Tyr1212Cys LB/B rs3732410 - GOLGB1 Q14789 VAR_031671 p.Pro1249Ser LB/B rs33988592 - GOLGB1 Q14789 VAR_031672 p.Cys1713Phe LB/B rs35674179 - GOLGB1 Q14789 VAR_031673 p.Gly1765Asp LB/B rs1127412 - GOLGB1 Q14789 VAR_036096 p.Gln348His US - A breast cancer sample GOLGB1 Q14789 VAR_036097 p.Ala944Gly US - A breast cancer sample GOLIM4 O00461 VAR_036611 p.Ala312Val US - A breast cancer sample GOLM1 Q8NBJ4 VAR_053922 p.His217Arg LB/B rs2297002 - GON4L Q3T8J9 VAR_024320 p.Met1418Val LB/B rs2297775 - GON4L Q3T8J9 VAR_056169 p.Leu150Phe LB/B rs3738586 - GON4L Q3T8J9 VAR_056170 p.Thr416Ala LB/B rs34939643 - GON4L Q3T8J9 VAR_056171 p.Ser1197Pro LB/B rs676814 - GON4L Q3T8J9 VAR_056172 p.Gln1539Glu LB/B rs607790 - GORAB Q5T7V8 VAR_027867 p.Glu295Lys LB/B rs913257 - GORASP1 Q9BQQ3 VAR_051016 p.Thr425Met LB/B rs1109643 - GORASP2 Q9H8Y8 VAR_051013 p.Ser432Phe LB/B rs3770436 - GOSR2 O14653 VAR_024471 p.Arg67Lys LB/B rs197922 - GOSR2 O14653 VAR_065833 p.Gly144Trp LP/P rs387906881 Epilepsy, progressive myoclonic 6 (EPM6) [MIM:614018] GOSR2 O14653 VAR_065833 p.Gly144Trp LP/P rs387906881 Muscular dystrophy, congenital, with or without seizures (MYOS) [MIM:620166] GOT2 P00505 VAR_031710 p.Gly188Ser LB/B rs11076256 - GOT2 P00505 VAR_031711 p.Val346Gly LB/B rs30842 - GOT2 P00505 VAR_031712 p.Val428Ala LB/B rs17849335 - GOT2 P00505 VAR_055494 p.Ala2Ser LB/B rs11558171 - GOT2 P00505 VAR_083489 p.Arg262Gly LP/P rs752927520 Developmental and epileptic encephalopathy 82 (DEE82) [MIM:618721] GOT2 P00505 VAR_083490 p.Arg337Gly US rs1247507359 Developmental and epileptic encephalopathy 82 (DEE82) [MIM:618721] GOT2 P00505 VAR_083491 p.Gly366Val US rs1597696047 Developmental and epileptic encephalopathy 82 (DEE82) [MIM:618721] GP1BA P07359 VAR_005256 p.Cys81Arg LP/P rs781541857 Bernard-Soulier syndrome (BSS) [MIM:231200] GP1BA P07359 VAR_005257 p.Thr161Met LB/B rs6065 - GP1BA P07359 VAR_005258 p.Ala172Val LP/P rs121908065 Bernard-Soulier syndrome (BSS) [MIM:231200] GP1BA P07359 VAR_005258 p.Ala172Val LP/P rs121908065 Bernard-Soulier syndrome A2, autosomal dominant (BSSA2) [MIM:153670] GP1BA P07359 VAR_005260 p.Cys225Ser LP/P rs1394634674 Bernard-Soulier syndrome (BSS) [MIM:231200] GP1BA P07359 VAR_005261 p.Gly249Val LP/P rs121908062 Pseudo-von Willebrand disease (VWDP) [MIM:177820] GP1BA P07359 VAR_005262 p.Met255Val LP/P rs121908064 Pseudo-von Willebrand disease (VWDP) [MIM:177820] GP1BA P07359 VAR_011909 p.Arg72His LB/B rs6068 - GP1BA P07359 VAR_011910 p.Ala254Ser LB/B rs382524 - GP1BA P07359 VAR_013511 p.Leu86Phe LB/B rs13306411 - GP1BA P07359 VAR_014206 p.Leu73Phe LP/P rs121908063 Bernard-Soulier syndrome (BSS) [MIM:231200] GP1BA P07359 VAR_014207 p.Leu145Pro LP/P rs771048666 Bernard-Soulier syndrome (BSS) [MIM:231200] GP1BA P07359 VAR_019657 p.Gly249Ser LP/P rs1597639057 Pseudo-von Willebrand disease (VWDP) [MIM:177820] GP1BB P13224 VAR_025000 p.Tyr113Cys LP/P rs121909750 Bernard-Soulier syndrome (BSS) [MIM:231200] GP1BB P13224 VAR_025001 p.Ala133Pro LP/P rs121909751 Bernard-Soulier syndrome (BSS) [MIM:231200] GP6 Q9HCN6 VAR_059389 p.Leu317Gln LB/B rs1654413 - GP6 Q9HCN6 VAR_059390 p.Asn322His LB/B rs1671152 - GP6 Q9HCN6 VAR_060352 p.Pro219Ser LB/B rs1613662 - GP6 Q9HCN6 VAR_060353 p.Glu237Lys LB/B rs1654416 - GP6 Q9HCN6 VAR_060354 p.Ala249Thr LB/B rs2304167 - GP6 Q9HCN6 VAR_060355 p.Arg335Gly LB/B rs1654412 - GP6 Q9HCN6 VAR_066590 p.Arg58Cys LP/P rs199588110 Bleeding disorder, platelet-type, 11 (BDPLT11) [MIM:614201] GP6 Q9HCN6 VAR_066591 p.Ser175Asn LP/P rs387906919 Bleeding disorder, platelet-type, 11 (BDPLT11) [MIM:614201] GP9 P14770 VAR_005263 p.Asp37Gly LP/P rs121918036 Bernard-Soulier syndrome (BSS) [MIM:231200] GP9 P14770 VAR_005264 p.Asn61Ser LP/P rs5030764 Bernard-Soulier syndrome (BSS) [MIM:231200] GP9 P14770 VAR_024996 p.Leu7Pro LP/P rs121918038 Bernard-Soulier syndrome (BSS) [MIM:231200] GP9 P14770 VAR_024997 p.Cys24Arg LP/P rs28933378 Bernard-Soulier syndrome (BSS) [MIM:231200] GP9 P14770 VAR_024998 p.Leu56Pro LP/P rs28933377 Bernard-Soulier syndrome (BSS) [MIM:231200] GP9 P14770 VAR_024999 p.Phe71Ser LP/P rs121918037 Bernard-Soulier syndrome (BSS) [MIM:231200] GP9 P14770 VAR_025008 p.Cys113Tyr LP/P - Bernard-Soulier syndrome (BSS) [MIM:231200] GP9 P14770 VAR_025009 p.Ala156Thr LB/B rs3796130 - GPA33 Q99795 VAR_020079 p.Asp20Asn LB/B rs2274531 - GPA33 Q99795 VAR_049874 p.Lys165Asn LB/B rs2228399 - GPAA1 O43292 VAR_080543 p.Ser51Leu LP/P rs1554763770 Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) [MIM:617810] GPAA1 O43292 VAR_080544 p.Ala54Asn US rs1554763777 Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) [MIM:617810] GPAA1 O43292 VAR_080545 p.Trp176Ser LP/P rs782220208 Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) [MIM:617810] GPAA1 O43292 VAR_080546 p.Leu290Pro LP/P rs1554764058 Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) [MIM:617810] GPAA1 O43292 VAR_080547 p.Leu291Pro LP/P rs1010907740 Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) [MIM:617810] GPAA1 O43292 VAR_080548 p.Ala389Pro LP/P rs782768127 Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) [MIM:617810] GPAM Q9HCL2 VAR_050585 p.Ser4Tyr LB/B rs11549703 - GPAM Q9HCL2 VAR_050586 p.Ile43Val LB/B rs2792751 - GPAM Q9HCL2 VAR_050587 p.Glu131Gly LB/B rs10787428 - GPAM Q9HCL2 VAR_050588 p.Ile386Thr LB/B rs35019520 - GPANK1 O95872 VAR_020096 p.Ala235Val LB/B rs2295666 - GPANK1 O95872 VAR_048291 p.Arg41Leu LB/B rs3130618 - GPANK1 O95872 VAR_048292 p.Ala112Val LB/B rs35265780 - GPANK1 O95872 VAR_048293 p.Ser210Ala LB/B rs34082689 - GPANK1 O95872 VAR_064698 p.Thr314Asn US - - GPATCH1 Q9BRR8 VAR_032303 p.Leu476Pro LB/B rs2287679 - GPATCH1 Q9BRR8 VAR_032304 p.His724Arg LB/B rs10416265 - GPATCH1 Q9BRR8 VAR_032305 p.Leu728Ser LB/B rs10421769 - GPATCH1 Q9BRR8 VAR_032306 p.Glu909Lys LB/B rs16967824 - GPATCH1 Q9BRR8 VAR_051014 p.Leu520Ser LB/B rs16967805 - GPATCH1 Q9BRR8 VAR_059657 p.Asp631Glu LB/B rs35389599 - GPATCH2L Q9NWQ4 VAR_056838 p.Val132Glu LB/B rs17104086 - GPATCH3 Q96I76 VAR_051015 p.Asn234Ser US rs35243557 - GPATCH3 Q96I76 VAR_079015 p.Val23Met US rs764461662 - GPATCH3 Q96I76 VAR_079016 p.Arg137Cys US rs879261101 - GPATCH3 Q96I76 VAR_079017 p.Gly475Glu US rs376709877 - GPATCH8 Q9UKJ3 VAR_059658 p.Arg1043Gln LB/B rs741902 - GPATCH8 Q9UKJ3 VAR_059659 p.Cys1161Trp LB/B rs936018 - GPATCH8 Q9UKJ3 VAR_067000 p.Ala979Pro LB/B rs727502862 - GPATCH8 Q9UKJ3 VAR_067001 p.His1012Gln LB/B rs3744427 - GPATCH8 Q9UKJ3 VAR_067002 p.Ser1259Gly LB/B rs760339 - GPBP1 Q86WP2 VAR_039654 p.Arg122Gly LB/B rs1862171 - GPBP1L1 Q9HC44 VAR_039655 p.Pro192Ser LB/B rs36067922 - GPBP1L1 Q9HC44 VAR_039656 p.Arg439His LB/B rs12093126 - GPC1 P35052 VAR_033977 p.Ser500Gly LB/B rs2228331 - GPC1 P35052 VAR_036044 p.Ala337Asp US - A breast cancer sample GPC2 Q8N158 VAR_036045 p.Asp200Asn US rs1333017606 A breast cancer sample GPC3 P51654 VAR_021385 p.Trp296Arg LP/P rs104894854 Simpson-Golabi-Behmel syndrome 1 (SGBS1) [MIM:312870] GPC3 P51654 VAR_069139 p.Val429Met LB/B rs11539789 - GPC4 O75487 VAR_016191 p.Glu391Asp LB/B rs1129980 - GPC4 O75487 VAR_016192 p.Ala442Val LB/B rs1048369 - GPC4 O75487 VAR_083241 p.Arg412Lys US rs1556022962 - GPC5 P78333 VAR_024228 p.Ala155Val LB/B rs553717 - GPC6 Q9Y625 VAR_024229 p.Val412Met LB/B rs1535692 - GPCPD1 Q9NPB8 VAR_022060 p.Thr273Ile LB/B rs2273373 - GPD1 P21695 VAR_029492 p.Ile54Val LB/B rs2232202 - GPD1 P21695 VAR_029493 p.Ala113Pro LB/B rs1128867 - GPD1 P21695 VAR_049220 p.Val197Ala LB/B rs2232207 - GPD1 P21695 VAR_067425 p.Glu124Lys LB/B rs34783513 - GPD1 P21695 VAR_067426 p.Thr223Ile LB/B rs200251017 - GPD1 P21695 VAR_071967 p.Arg229Pro LP/P rs199673455 Hypertriglyceridemia, transient infantile (HTGTI) [MIM:614480] GPD1L Q8N335 VAR_032114 p.Leu178Phe LB/B rs35447795 - GPD1L Q8N335 VAR_044044 p.Glu83Lys US rs72552292 Brugada syndrome 2 (BRGDA2) [MIM:611777] GPD1L Q8N335 VAR_044045 p.Ile124Val US rs72552293 Brugada syndrome 2 (BRGDA2) [MIM:611777] GPD1L Q8N335 VAR_044046 p.Arg273Cys US rs72552294 Brugada syndrome 2 (BRGDA2) [MIM:611777] GPD1L Q8N335 VAR_044047 p.Ala280Val US rs72552291 Brugada syndrome 2 (BRGDA2) [MIM:611777] GPD2 P43304 VAR_025215 p.Arg525His LB/B rs1051916 - GPD2 P43304 VAR_049113 p.Arg264His LB/B rs2116665 - GPD2 P43304 VAR_049114 p.Lys453Gln LB/B rs35096779 - GPD2 P43304 VAR_083484 p.Phe635Ser US - - GPD2 P43304 VAR_083485 p.Gln649Pro US - - GPD2 P43304 VAR_083486 p.Arg650Cys US - - GPER1 Q99527 VAR_033319 p.Pro16Leu LB/B rs11544331 - GPHN Q9NQX3 VAR_044162 p.Asn10Tyr US rs121908539 - GPHN Q9NQX3 VAR_070275 p.Asp580Ala LP/P rs397518420 Molybdenum cofactor deficiency, complementation group C (MOCODC) [MIM:615501] GPHN Q9NQX3 VAR_075626 p.Gly375Asp LP/P - Molybdenum cofactor deficiency, complementation group C (MOCODC) [MIM:615501] GPI P06744 VAR_002516 p.Thr5Ile LP/P rs267606852 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002517 p.His20Pro LP/P rs137853586 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002518 p.Arg75Gly LP/P rs1246980119 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002519 p.Arg83Trp LP/P rs983725326 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002520 p.Gly159Ser LP/P rs137853582 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002521 p.Val101Met LP/P rs757341382 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002522 p.Thr195Ile LP/P rs1426869331 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002523 p.Thr224Met LP/P rs61754634 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002524 p.Arg273His LP/P rs1250029517 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002525 p.Ser278Leu LP/P rs34306618 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002526 p.Ala300Pro LP/P rs1435398228 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002527 p.Leu339Pro LP/P rs137853587 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002528 p.Gln343Arg LP/P rs267606851 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002529 p.Arg347Cys LP/P rs758132799 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002530 p.Arg347His LP/P rs137853583 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002531 p.Thr375Arg LP/P rs267606853 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002532 p.His389Arg LP/P rs139382538 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002533 p.Arg472His LP/P rs148811525 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002534 p.Leu487Phe LP/P rs374583873 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002535 p.Glu495Lys LP/P rs900848255 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002536 p.Leu517Val LP/P - Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002537 p.Ile525Thr LP/P rs137853584 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002538 p.Asp539Asn LP/P rs137853585 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_018816 p.Ile208Thr LB/B rs8191371 - GPI P06744 VAR_033943 p.Arg308His LB/B rs2230294 - GPI P06744 VAR_082092 p.Ser160Pro US - Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_082093 p.Arg472Cys LP/P rs1364382189 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPIHBP1 Q8IV16 VAR_044503 p.Phe14Cys LB/B rs11538389 - GPIHBP1 Q8IV16 VAR_044504 p.Gly56Arg LB/B rs587777636 - GPIHBP1 Q8IV16 VAR_058086 p.Gln115Pro LP/P rs587777637 Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] GPIHBP1 Q8IV16 VAR_071881 p.Cys65Ser LP/P rs587777638 Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] GPIHBP1 Q8IV16 VAR_071882 p.Cys68Gly LP/P rs587777639 Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] GPIHBP1 Q8IV16 VAR_071883 p.Cys89Phe LP/P rs587777640 Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] GPIHBP1 Q8IV16 VAR_071884 p.Gly175Arg LP/P rs145844329 Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] GPIHBP1 Q8IV16 VAR_077634 p.Cys65Tyr LP/P rs587777638 Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] GPIHBP1 Q8IV16 VAR_077635 p.Cys68Arg US rs587777639 Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] GPIHBP1 Q8IV16 VAR_077636 p.Cys68Tyr LP/P - Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] GPIHBP1 Q8IV16 VAR_077637 p.Cys83Arg LP/P - Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] GPIHBP1 Q8IV16 VAR_077638 p.Thr108Arg LP/P - Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] GPIHBP1 Q8IV16 VAR_077639 p.Ser144Phe LP/P rs78367243 Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] GPLD1 P80108 VAR_030743 p.Leu17Val LB/B rs2235501 - GPLD1 P80108 VAR_030744 p.Val30Ile LB/B rs1126617 - GPLD1 P80108 VAR_030745 p.Asp275Glu LB/B rs17300770 - GPLD1 P80108 VAR_030746 p.Gly396Ser LB/B rs6924628 - GPLD1 P80108 VAR_030747 p.Val461Met LB/B rs1062505 - GPLD1 P80108 VAR_030748 p.Met694Val LB/B rs1042303 - GPLD1 P80108 VAR_030749 p.Thr698Ile LB/B rs1772256 - GPLD1 P80108 VAR_051278 p.Ile350Val LB/B rs1062496 - GPM6A P51674 VAR_014895 p.Val242Leu LB/B rs1049820 - GPN2 Q9H9Y4 VAR_027153 p.Gln227Arg LB/B rs17856257 - GPN2 Q9H9Y4 VAR_027154 p.Arg264Gly LB/B rs3170660 - GPN3 Q9UHW5 VAR_035107 p.Ala52Val LB/B rs17856906 - GPN3 Q9UHW5 VAR_035108 p.Val244Ala LB/B rs17850320 - GPNMB Q14956 VAR_012076 p.Ser195Cys LB/B rs530436 - GPNMB Q14956 VAR_012077 p.Asn197His LB/B rs530413 - GPNMB Q14956 VAR_036262 p.Ala110Asp US rs755767733 A breast cancer sample GPNMB Q14956 VAR_036263 p.Ser531Ile US - A breast cancer sample GPNMB Q14956 VAR_050603 p.Ser294Phe LB/B rs35499907 - GPNMB Q14956 VAR_050604 p.Pro324Leu LB/B rs35363287 - GPNMB Q14956 VAR_050605 p.Ser538Arg LB/B rs35878037 - GPR101 Q96P66 VAR_049398 p.Val124Leu LB/B rs1190736 - GPR101 Q96P66 VAR_049399 p.Leu376Pro LB/B rs5931046 - GPR101 Q96P66 VAR_072691 p.Glu308Asp LP/P rs73637412 Pituitary adenoma 2, growth hormone-secreting (PITA2) [MIM:300943] GPR107 Q5VW38 VAR_030863 p.Ala189Pro LB/B rs640343 - GPR108 Q9NPR9 VAR_056112 p.Leu79Pro LB/B rs4807897 - GPR108 Q9NPR9 VAR_060483 p.Gln36Arg LB/B rs340138 - GPR119 Q8TDV5 VAR_037221 p.Ser309Leu LB/B rs5975187 - GPR135 Q8IZ08 VAR_024259 p.Gln5Pro LB/B rs1752428 - GPR135 Q8IZ08 VAR_049402 p.Val481Ala LB/B rs1752427 - GPR137C Q8N3F9 VAR_053880 p.Val248Ile LB/B rs762063 - GPR141 Q7Z602 VAR_074185 p.Arg72His LB/B rs772202718 - GPR142 Q7Z601 VAR_061219 p.His132Asn LB/B rs2382647 - GPR143 P51810 VAR_005507 p.Gly35Asp LP/P rs62635018 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005508 p.Gly84Asp LP/P rs62635027 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005509 p.Gly84Arg LP/P rs62635026 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005510 p.Cys116Arg LP/P rs62635030 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005511 p.Gly118Glu LP/P rs62635031 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005513 p.Trp133Arg LP/P rs137852296 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005514 p.Ala138Val LP/P rs62635762 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005515 p.Ser152Asn LP/P rs58933950 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005516 p.Ala173Asp LP/P rs62635035 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005517 p.Thr232Lys LP/P rs137852297 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005518 p.Glu235Lys LP/P - Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005520 p.Trp292Gly LP/P rs62635045 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018130 p.Arg5Cys LP/P rs62635289 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018131 p.Leu39Arg LP/P rs62635019 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018132 p.Asp78Asn LP/P rs62635024 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018133 p.Asp78Val LP/P rs62635025 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018134 p.Cys116Ser LP/P rs62635029 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018135 p.Gln124Arg LP/P rs62635032 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018136 p.Gly229Val LP/P rs62635037 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018137 p.Glu233Lys LP/P rs62635038 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018138 p.Ile244Val LP/P rs62635040 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018139 p.Ile261Asn LP/P - Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018140 p.Glu271Gly LP/P rs62635043 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018141 p.Trp292Cys LP/P rs62635046 Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063265 p.Gly81Val LP/P - Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063266 p.Ser89Phe LP/P rs137852298 Nystagmus 6, congenital, X-linked (NYS6) [MIM:300814] GPR143 P51810 VAR_063267 p.Cys116Gly LP/P - Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063268 p.Cys116Trp LP/P - Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063269 p.Trp132Arg LP/P - Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063270 p.Leu134Pro LP/P - Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063271 p.Thr166Asn LP/P - Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063272 p.Glu185Lys LP/P - Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063273 p.Arg186Pro LP/P - Albinism ocular 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063274 p.Arg186Trp LP/P rs199899645 Albinism ocular 1 (OA1) [MIM:300500] GPR148 Q8TDV2 VAR_049403 p.Thr317Pro LB/B rs272128 - GPR15 P49685 VAR_020075 p.Pro37Ser LB/B rs2230344 - GPR15 P49685 VAR_049391 p.Met112Val LB/B rs35320046 - GPR151 Q8TDV0 VAR_049404 p.Pro40Leu LB/B rs17104742 - GPR151 Q8TDV0 VAR_049405 p.Ala144Val LB/B rs7713676 - GPR151 Q8TDV0 VAR_049406 p.Leu261Val LB/B rs7709485 - GPR152 Q8TDT2 VAR_059323 p.Leu317Val LB/B rs1638559 - GPR153 Q6NV75 VAR_023741 p.Arg209His LB/B rs12735670 - GPR156 Q8NFN8 VAR_049284 p.Glu516Asp LB/B rs902790 - GPR158 Q5T848 VAR_049285 p.Ala425Gly LB/B rs2480345 - GPR158 Q5T848 VAR_049286 p.Ile1209Val LB/B rs10828833 - GPR162 Q16538 VAR_049407 p.Arg459Gly LB/B rs11612427 - GPR171 O14626 VAR_049408 p.Ile283Val LB/B rs3732756 - GPR174 Q9BXC1 VAR_049409 p.Ser162Pro LB/B rs3827440 - GPR179 Q6PRD1 VAR_049287 p.Gln1176Glu LB/B rs4399578 - GPR179 Q6PRD1 VAR_049288 p.Cys1381Arg LB/B rs4398144 - GPR179 Q6PRD1 VAR_049289 p.Gln1869Glu LB/B rs4399578 - GPR179 Q6PRD1 VAR_061204 p.Lys1150Glu LB/B rs55727040 - GPR179 Q6PRD1 VAR_067925 p.Asp126His LP/P rs281875233 Night blindness, congenital stationary, 1E (CSNB1E) [MIM:614565] GPR179 Q6PRD1 VAR_067926 p.Tyr220Cys LP/P rs281875236 Night blindness, congenital stationary, 1E (CSNB1E) [MIM:614565] GPR179 Q6PRD1 VAR_067927 p.Gly455Asp LP/P rs281875235 Night blindness, congenital stationary, 1E (CSNB1E) [MIM:614565] GPR179 Q6PRD1 VAR_067928 p.His603Tyr LP/P rs281875234 Night blindness, congenital stationary, 1E (CSNB1E) [MIM:614565] GPR180 Q86V85 VAR_035925 p.Thr32Asn US - A breast cancer sample GPR182 O15218 VAR_033464 p.Cys349Arg LB/B rs35493121 - GPR183 P32249 VAR_054147 p.Ala338Val US rs1466524306 An acute myeloid leukemia sample GPR19 Q15760 VAR_024256 p.Val189Ile LB/B rs4763862 - GPR20 Q99678 VAR_055917 p.His230Arg LB/B rs10875472 - GPR20 Q99678 VAR_055918 p.Arg260Cys LB/B rs36092215 - GPR20 Q99678 VAR_055919 p.Gly313Ser LB/B rs34591516 - GPR3 P46089 VAR_011859 p.Arg222His LB/B rs734852 - GPR31 O00270 VAR_049392 p.His91Arg LB/B rs6902566 - GPR32 O75388 VAR_011860 p.Phe327Leu LB/B rs1864011 - GPR35 Q9HC97 VAR_013601 p.Ala25Thr LB/B rs35146537 - GPR35 Q9HC97 VAR_013602 p.Val29Ile LB/B rs139197368 - GPR35 Q9HC97 VAR_013603 p.Thr108Met LB/B rs3749171 - GPR35 Q9HC97 VAR_013604 p.Arg125Ser LB/B rs34778053 - GPR35 Q9HC97 VAR_013605 p.Thr253Met LB/B rs12468485 - GPR35 Q9HC97 VAR_013606 p.Ser294Arg LB/B rs3749172 - GPR35 Q9HC97 VAR_033467 p.Val76Met LB/B rs13387859 - GPR37L1 O60883 VAR_047455 p.Pro81Ala LB/B rs3795594 - GPR37L1 O60883 VAR_047456 p.Gly90Asp LB/B rs3795595 - GPR37L1 O60883 VAR_047457 p.Lys91Arg LB/B rs17854616 - GPR37L1 O60883 VAR_080868 p.Lys349Asn US rs372386575 - GPR39 O43194 VAR_022067 p.Ala50Val LB/B rs2241764 - GPR39 O43194 VAR_049393 p.Arg390Cys LB/B rs16838944 - GPR4 P46093 VAR_049390 p.Ser295Asn LB/B rs36012326 - GPR42 O15529 VAR_033468 p.Cys45Arg LB/B rs423385 - GPR42 O15529 VAR_033469 p.Val227Leu LB/B rs403989 - GPR42 O15529 VAR_033470 p.Val256Ala LB/B rs424715 - GPR42 O15529 VAR_062860 p.Arg44Gln LB/B rs878906072 - GPR42 O15529 VAR_062862 p.Asn346Ser LB/B rs381478 - GPR42 O15529 VAR_088067 p.Arg174Trp LB/B rs424241 - GPR45 Q9Y5Y3 VAR_035759 p.Ser7Cys US - A breast cancer sample GPR45 Q9Y5Y3 VAR_049394 p.Leu312Phe LB/B rs35946826 - GPR50 Q13585 VAR_062255 p.Thr532Ala LB/B rs561077 - GPR50 Q13585 VAR_062256 p.Ile606Val LB/B rs13440581 - GPR55 Q9Y2T6 VAR_024257 p.Gly195Val LB/B rs3749073 - GPR55 Q9Y2T6 VAR_049395 p.Thr215Asn LB/B rs34229723 - GPR62 Q9BZJ7 VAR_055920 p.Val313Leu LB/B rs323871 - GPR62 Q9BZJ7 VAR_067702 p.Thr151Pro LB/B rs28587738 - GPR62 Q9BZJ7 VAR_067703 p.His216Arg LB/B rs28651222 - GPR63 Q9BZJ6 VAR_049396 p.Val21Met LB/B rs35358396 - GPR65 Q8IYL9 VAR_022064 p.Ile231Leu LB/B rs3742704 - GPR68 Q15743 VAR_058714 p.Arg53Gln LB/B rs2230339 - GPR68 Q15743 VAR_064716 p.Asn39Ser US - - GPR68 Q15743 VAR_077874 p.Leu74Pro LP/P rs1057517672 Amelogenesis imperfecta, hypomaturation type, 2A6 (AI2A6) [MIM:617217] GPR75 O95800 VAR_033471 p.Ala116Thr LB/B rs34000641 - GPR75 O95800 VAR_033472 p.Cys160Gly LB/B rs35349235 - GPR75 O95800 VAR_033473 p.Leu433Val LB/B rs3731969 - GPR75 O95800 VAR_071258 p.Asn78Lys US rs72799238 - GPR75 O95800 VAR_071259 p.Pro99Leu US - - GPR75 O95800 VAR_071260 p.Ser108Thr US rs763005023 - GPR75 O95800 VAR_071261 p.Thr135Pro US - - GPR78 Q96P69 VAR_024258 p.Arg201Ser LB/B rs17844778 - GPR78 Q96P69 VAR_033474 p.Ala330Thr LB/B rs11941659 - GPR78 Q96P69 VAR_033475 p.Arg342His LB/B rs9685931 - GPR83 Q9NYM4 VAR_047079 p.Pro374Gln LB/B rs3740868 - GPR84 Q9NQS5 VAR_049397 p.Gly37Asp LB/B rs11170883 - GPR84 Q9NQS5 VAR_069393 p.Pro367Arg LB/B - - GPR85 P60893 VAR_074204 p.Met152Thr US - - GPR85 P60893 VAR_074205 p.Val221Leu US - - GPR87 Q9BY21 VAR_035760 p.Asp191Tyr US - A colorectal cancer sample GPR87 Q9BY21 VAR_055921 p.Thr205Met LB/B rs35521104 - GPR88 Q9GZN0 VAR_054767 p.Val190Ile LB/B rs2809819 - GPR88 Q9GZN0 VAR_054768 p.Gln318His LB/B rs3001995 - GPRASP1 Q5JY77 VAR_026579 p.Ala315Gly LB/B rs17339512 - GPRASP1 Q5JY77 VAR_049263 p.Ile779Val LB/B rs17292748 - GPRASP1 Q5JY77 VAR_049264 p.Pro1093Ser LB/B rs2235804 - GPRASP2 Q96D09 VAR_049265 p.Arg173Ser LB/B rs6616421 - GPRASP2 Q96D09 VAR_081645 p.Ala573Asn LP/P - Deafness, X-linked, 7 (DFNX7) [MIM:301018] GPRASP3 Q6PI77 VAR_049266 p.Ser132Gly LB/B rs2179675 - GPRASP3 Q6PI77 VAR_049267 p.Cys318Arg LB/B rs4514179 - GPRC5A Q8NFJ5 VAR_018296 p.Ser118Gly LB/B rs850932 - GPRC5A Q8NFJ5 VAR_049281 p.Cys9Phe LB/B rs11550683 - GPRC5A Q8NFJ5 VAR_049282 p.Thr182Ala LB/B rs12368599 - GPRC5D Q9NZD1 VAR_018297 p.Ala18Asp LB/B rs3741822 - GPRC6A Q5T6X5 VAR_023966 p.Pro91Ser LB/B rs2274911 - GPRC6A Q5T6X5 VAR_049283 p.Ile144Arg LB/B rs28360548 - GPRC6A Q5T6X5 VAR_061203 p.Ile599Thr LB/B rs35937022 - GPRIN1 Q7Z2K8 VAR_056902 p.Gly337Ala LB/B rs10037225 - GPRIN1 Q7Z2K8 VAR_056903 p.Ser357Pro LB/B rs34285890 - GPRIN1 Q7Z2K8 VAR_063136 p.Pro121Thr LB/B rs17854765 - GPRIN1 Q7Z2K8 VAR_063137 p.Met300Val LB/B rs6556276 - GPRIN2 O60269 VAR_051017 p.Leu39Val LB/B rs4926045 - GPRIN2 O60269 VAR_051018 p.Ser104Gly LB/B rs3127679 - GPRIN2 O60269 VAR_059660 p.Arg5His LB/B rs3127817 - GPRIN2 O60269 VAR_059661 p.Arg40His LB/B rs3127818 - GPRIN2 O60269 VAR_059662 p.Val47Met LB/B rs3127819 - GPRIN2 O60269 VAR_059663 p.Trp91Arg LB/B rs3127820 - GPRIN2 O60269 VAR_059664 p.Leu400Pro LB/B rs3127823 - GPRIN2 O60269 VAR_061656 p.Thr100Pro LB/B rs7090312 - GPRIN2 O60269 VAR_061657 p.Gly202Trp LB/B rs11204658 - GPRIN2 O60269 VAR_061658 p.Ala233Ser LB/B rs11204659 - GPRIN2 O60269 VAR_061659 p.Val241Met LB/B rs9422022 - GPRIN2 O60269 VAR_061660 p.Arg242Gly LB/B rs3127683 - GPRIN2 O60269 VAR_061661 p.Ser328Cys LB/B rs4445576 - GPRIN2 O60269 VAR_061662 p.Val375Ala LB/B rs3127822 - GPRIN3 Q6ZVF9 VAR_051019 p.Leu39Val LB/B rs11734353 - GPRIN3 Q6ZVF9 VAR_051020 p.Ala378Val LB/B rs6811370 - GPRIN3 Q6ZVF9 VAR_051021 p.Ser382Pro LB/B rs28622301 - GPRIN3 Q6ZVF9 VAR_051022 p.Pro390Ser LB/B rs11733183 - GPRIN3 Q6ZVF9 VAR_051023 p.Val446Ala LB/B rs7653897 - GPRIN3 Q6ZVF9 VAR_051024 p.Arg746Lys LB/B rs17015286 - GPS2 Q13227 VAR_021972 p.Thr306Ala LB/B rs2292065 - GPT P24298 VAR_000561 p.His14Asn LB/B rs1063739 - GPT P24298 VAR_075711 p.Glu430Gln US rs141505249 - GPT P24298 VAR_075712 p.Val452Leu US rs147998249 - GPT2 Q8TD30 VAR_073379 p.Ser153Arg LP/P rs786203999 Neurodevelopmental disorder with spastic paraplegia and microcephaly (NEDSPM) [MIM:616281] GPX1 P07203 VAR_007904 p.Pro200Leu LB/B rs1050450 - GPX1 P07203 VAR_020912 p.Arg5Pro LB/B rs8179169 - GPX1 P07203 VAR_020915 p.Ala194Thr LB/B rs6446261 - GPX2 P18283 VAR_003615 p.Ala37Leu US - - GPX2 P18283 VAR_003616 p.Ile176Met LB/B - - GPX2 P18283 VAR_020916 p.Pro126Leu LB/B rs17881652 - GPX2 P18283 VAR_020917 p.Arg146Cys LB/B rs17880492 - GPX3 P22352 VAR_020943 p.Phe128Leu LB/B rs8177445 - GPX4 P36969 VAR_017063 p.Ser2Asn LB/B rs8178967 - GPX4 P36969 VAR_017064 p.Ala120Thr LB/B rs76201145 - GPX5 O75715 VAR_012040 p.Leu85Val LB/B rs769188 - GPX5 O75715 VAR_061206 p.Leu85Pro LB/B rs58554303 - GPX6 P59796 VAR_025249 p.Gln6Leu LB/B rs35510314 - GPX6 P59796 VAR_025250 p.Phe13Leu LB/B rs406113 - GPX6 P59796 VAR_025251 p.Tyr53His LB/B rs34825130 - GPX6 P59796 VAR_025252 p.Gln58His LB/B rs6922986 - GPX6 P59796 VAR_025253 p.Tyr72Asn LB/B rs35062161 - GPX6 P59796 VAR_025254 p.Glu136Asp LB/B rs35394555 - GPX6 P59796 VAR_025255 p.Val140Met LB/B rs36055795 - GPX6 P59796 VAR_025256 p.Pro157Ser LB/B rs35658392 - GPX6 P59796 VAR_025257 p.Asp161Gly LB/B rs34955392 - GPX6 P59796 VAR_025258 p.Val188Ala LB/B rs35701070 - GPX8 Q8TED1 VAR_060456 p.Lys182Arg LB/B rs381852 - GRAMD1C Q8IYS0 VAR_032302 p.Leu644Pro LB/B rs17853381 - GRAMD4 Q6IC98 VAR_042505 p.Ser159Ile LB/B rs36211078 - GRAP Q13588 VAR_082111 p.Gln104Leu LP/P rs370564476 Deafness, autosomal recessive, 114 (DFNB114) [MIM:618456] GRAP2 O75791 VAR_012079 p.Leu319Phe LB/B rs12759 - GRB10 Q13322 VAR_053112 p.Pro36Leu LB/B rs35647889 - GRB10 Q13322 VAR_053113 p.Asp558His LB/B rs11768472 - GRB10 Q13322 VAR_062864 p.Pro95Ser LB/B rs80244589 - GRB14 Q14449 VAR_065758 p.Phe90Ile LB/B rs61748245 - GRB14 Q14449 VAR_065759 p.His507Tyr LB/B rs144301087 - GREB1 Q4ZG55 VAR_039313 p.Asn77Thr LB/B rs10929757 - GREB1 Q4ZG55 VAR_039314 p.Val122Ala LB/B rs4669751 - GREB1 Q4ZG55 VAR_039315 p.Val346Met LB/B rs6744817 - GREB1 Q4ZG55 VAR_039316 p.Arg973Gln LB/B rs3762579 - GREB1 Q4ZG55 VAR_039317 p.Tyr1463Cys LB/B rs11695925 - GREB1 Q4ZG55 VAR_039318 p.Asp1687Asn LB/B rs2304402 - GREB1 Q4ZG55 VAR_039319 p.Leu1814Val LB/B rs34955282 - GREB1 Q4ZG55 VAR_061654 p.Phe359Leu LB/B rs35188552 - GREB1 Q4ZG55 VAR_061655 p.Ala632Thr LB/B rs36030386 - GREB1L Q9C091 VAR_080092 p.Arg128His LP/P - Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080093 p.Arg192Leu LP/P - Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080094 p.Arg241Gln LB/B rs147048716 - GREB1L Q9C091 VAR_080095 p.Gly273Val LP/P - Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080096 p.Arg328Gln LP/P rs1311814599 Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080097 p.Ala497Gly LP/P - Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080099 p.Ser605Arg LP/P - Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080100 p.Leu716Phe LP/P - Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080101 p.Arg751Cys LP/P rs1555654020 Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080102 p.Arg751His LP/P rs1343579561 Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080103 p.Glu761Gln LP/P rs1465443065 Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080104 p.Ala926Val LB/B rs569900756 - GREB1L Q9C091 VAR_080106 p.Arg1066Pro LP/P rs766987038 Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080108 p.Met1502Thr LP/P - Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080109 p.Asp1509Val LP/P rs1336205837 Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080110 p.His1536Arg LP/P rs1555662027 Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080111 p.Val1549Ala LP/P - Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080112 p.Arg1558Ser LP/P rs1045574508 Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080114 p.Leu1567Pro LP/P rs1555662061 Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080115 p.Ala1576Val LP/P - Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080116 p.Val1615Ile LP/P rs1409376788 Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080117 p.Ile1655Thr LP/P - Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080118 p.Tyr1664Cys LP/P - Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080119 p.Val1690Met LP/P rs1555663997 Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080120 p.Asp1775Asn LP/P - Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080121 p.Leu1793Arg LP/P rs1555664772 Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_080122 p.Arg1884His LP/P rs1372640211 Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805] GREB1L Q9C091 VAR_085591 p.Thr116Ile US - Deafness, autosomal dominant, 80 (DFNA80) [MIM:619274] GREB1L Q9C091 VAR_085592 p.Asn283Ser US - Deafness, autosomal dominant, 80 (DFNA80) [MIM:619274] GREM2 Q9H772 VAR_048876 p.Val131Ile LB/B rs34188522 - GREM2 Q9H772 VAR_078067 p.Ala13Val LP/P rs373941682 Tooth agenesis, selective, 9 (STHAG9) [MIM:617275] GREM2 Q9H772 VAR_078068 p.Gln76Glu LP/P rs142343894 Tooth agenesis, selective, 9 (STHAG9) [MIM:617275] GREM2 Q9H772 VAR_078069 p.Glu136Asp LP/P rs1057519288 Tooth agenesis, selective, 9 (STHAG9) [MIM:617275] GRHL1 Q9NZI5 VAR_025663 p.Asn191Ser LB/B rs16867256 - GRHL1 Q9NZI5 VAR_025664 p.Val397Ile LB/B rs2303920 - GRHL2 Q6ISB3 VAR_049293 p.Val415Ile LB/B rs3779617 - GRHL2 Q6ISB3 VAR_071989 p.Tyr398His LP/P rs587777737 Ectodermal dysplasia/short stature syndrome (ECTDS) [MIM:616029] GRHL2 Q6ISB3 VAR_071990 p.Ile482Lys LP/P rs587777738 Ectodermal dysplasia/short stature syndrome (ECTDS) [MIM:616029] GRHL3 Q8TE85 VAR_027907 p.Asp55Glu LB/B rs2486668 - GRHL3 Q8TE85 VAR_055881 p.Val160Ala LB/B rs34637004 - GRHL3 Q8TE85 VAR_072616 p.Arg298His LP/P rs752673677 Van der Woude syndrome 2 (VWS2) [MIM:606713] GRHL3 Q8TE85 VAR_072617 p.Arg391Cys LP/P rs879255245 Van der Woude syndrome 2 (VWS2) [MIM:606713] GRHL3 Q8TE85 VAR_072618 p.Arg520Gln LP/P rs946439477 Van der Woude syndrome 2 (VWS2) [MIM:606713] GRHPR Q9UBQ7 VAR_032762 p.Arg170Gln LB/B rs12002324 - GRIA1 P42261 VAR_028071 p.Asp487Asn LB/B rs13166146 - GRIA1 P42261 VAR_028072 p.Pro521Thr LB/B rs13166161 - GRIA1 P42261 VAR_028073 p.Ala536Ser LB/B rs13166438 - GRIA1 P42261 VAR_028074 p.Ile548Met LB/B rs13186241 - GRIA1 P42261 VAR_028075 p.Phe588Leu LB/B rs13186534 - GRIA1 P42261 VAR_078689 p.Ala636Thr LP/P rs587776937 Intellectual developmental disorder, autosomal dominant 67 (MRD67) [MIM:619927] GRIA1 P42261 VAR_087404 p.Arg345Gln US rs142859488 Intellectual developmental disorder, autosomal dominant 67 (MRD67) [MIM:619927] GRIA1 P42261 VAR_087406 p.Ile627Thr LP/P - Intellectual developmental disorder, autosomal dominant 67 (MRD67) [MIM:619927] GRIA1 P42261 VAR_087407 p.Gly745Asp LP/P rs1561846159 Intellectual developmental disorder, autosomal dominant 67 (MRD67) [MIM:619927] GRIA2 P42262 VAR_000303 p.Gln607Arg LB/B rs17850674 - GRIA2 P42262 VAR_037055 p.Gln608Arg LB/B rs17850675 - GRIA2 P42262 VAR_084679 p.Gly47Glu US - Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] GRIA2 P42262 VAR_084680 p.Asp302Gly LP/P rs1735116193 Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] GRIA2 P42262 VAR_084683 p.Pro528Thr LP/P rs1735294501 Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] GRIA2 P42262 VAR_084684 p.Gln607Glu LP/P - Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] GRIA2 P42262 VAR_084685 p.Gly609Arg LP/P rs1735303754 Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] GRIA2 P42262 VAR_084686 p.Asp611Asn LP/P rs1553956958 Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] GRIA2 P42262 VAR_084687 p.Ala639Ser LP/P rs1579377564 Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] GRIA2 P42262 VAR_084688 p.Phe644Leu LP/P - Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] GRIA2 P42262 VAR_084689 p.Thr646Asn LP/P - Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] GRIA2 P42262 VAR_084690 p.Val647Leu LP/P - Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] GRIA2 P42262 VAR_084691 p.Glu776Asp LP/P - Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] GRIA2 P42262 VAR_084692 p.Trp788Leu LP/P - Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] GRIA2 P42262 VAR_084693 p.Gly792Val LP/P - Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] GRIA2 P42262 VAR_084694 p.Ala807Val LP/P - Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] GRIA2 P42262 VAR_084695 p.Asn812Ser LP/P - Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] GRIA3 P42263 VAR_023579 p.Phe525Leu LB/B rs1052538 - GRIA3 P42263 VAR_043484 p.Arg450Gln LP/P rs368568228 Intellectual developmental disorder, X-linked, syndromic, Wu type (MRXSW) [MIM:300699] GRIA3 P42263 VAR_043485 p.Arg631Ser LP/P rs137852351 Intellectual developmental disorder, X-linked, syndromic, Wu type (MRXSW) [MIM:300699] GRIA3 P42263 VAR_043486 p.Met706Thr LP/P rs137852352 Intellectual developmental disorder, X-linked, syndromic, Wu type (MRXSW) [MIM:300699] GRIA3 P42263 VAR_043487 p.Gly833Arg LP/P rs137852350 Intellectual developmental disorder, X-linked, syndromic, Wu type (MRXSW) [MIM:300699] GRIA3 P42263 VAR_081437 p.Glu224Lys US rs757586471 - GRIA3 P42263 VAR_088742 p.Gly630Arg US - Intellectual developmental disorder, X-linked, syndromic, Wu type (MRXSW) [MIM:300699] GRIA4 P48058 VAR_080751 p.Thr639Ser LP/P rs1555050158 Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) [MIM:617864] GRIA4 P48058 VAR_080752 p.Asn641Asp LP/P rs1555050165 Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) [MIM:617864] GRIA4 P48058 VAR_080753 p.Ala643Gly LP/P rs1555050171 Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) [MIM:617864] GRIA4 P48058 VAR_080754 p.Ala644Val LP/P rs1555050174 Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) [MIM:617864] GRIA4 P48058 VAR_080755 p.Arg697Pro US - Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) [MIM:617864] GRID1 Q9ULK0 VAR_022011 p.Val529Ile LB/B rs2306265 - GRID2 O43424 VAR_035697 p.Thr209Asn US - A colorectal cancer sample GRID2 O43424 VAR_055016 p.Thr68Met LB/B rs34144324 - GRID2 O43424 VAR_055017 p.Phe398Ser LB/B rs34796082 - GRID2 O43424 VAR_055018 p.Val490Ile LB/B rs10034345 - GRID2 O43424 VAR_074166 p.Ala654Asp LP/P - Spinocerebellar ataxia, autosomal recessive, 18 (SCAR18) [MIM:616204] GRID2 O43424 VAR_074167 p.Ala654Thr LP/P - Spinocerebellar ataxia, autosomal recessive, 18 (SCAR18) [MIM:616204] GRID2 O43424 VAR_074168 p.Leu656Val LP/P - Spinocerebellar ataxia, autosomal recessive, 18 (SCAR18) [MIM:616204] GRID2IP A4D2P6 VAR_042909 p.Arg20Gln LB/B rs11761490 - GRIK1 P39086 VAR_000304 p.Gln636Arg US - - GRIK1 P39086 VAR_012041 p.Ile757Val LB/B rs363494 - GRIK1 P39086 VAR_012042 p.Ala870Val LB/B rs363503 - GRIK1 P39086 VAR_012043 p.Leu902Ser LB/B rs363504 - GRIK1 P39086 VAR_012751 p.Ala332Val LB/B rs143252117 - GRIK1 P39086 VAR_012752 p.Arg862Gln LB/B rs761410270 - GRIK2 Q13002 VAR_000305 p.Ile567Val US - - GRIK2 Q13002 VAR_000306 p.Tyr571Cys US - - GRIK2 Q13002 VAR_000307 p.Gln621Arg US - - GRIK2 Q13002 VAR_035694 p.Glu187Gln US - A breast cancer sample GRIK2 Q13002 VAR_037633 p.Met867Ile LB/B rs2235076 - GRIK2 Q13002 VAR_049186 p.Val766Ile LB/B rs3213608 - GRIK2 Q13002 VAR_078426 p.Ala657Thr LP/P rs1790057505 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) [MIM:619580] GRIK2 Q13002 VAR_086335 p.Thr660Lys LP/P - Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) [MIM:619580] GRIK2 Q13002 VAR_086336 p.Thr660Arg LP/P - Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) [MIM:619580] GRIK2 Q13002 VAR_086337 p.Ile668Thr LP/P - Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) [MIM:619580] GRIK3 Q13003 VAR_000308 p.Ser310Ala LB/B rs6691840 - GRIK3 Q13003 VAR_000309 p.Arg352Gln US - - GRIK3 Q13003 VAR_035695 p.Arg215His US rs755366301 A colorectal cancer sample GRIK3 Q13003 VAR_035696 p.Asp391His US - A breast cancer sample GRIK4 Q16099 VAR_046998 p.Val528Ile LB/B rs2230298 - GRIK4 Q16099 VAR_046999 p.Met824Thr LB/B rs9988907 - GRIN1 Q05586 VAR_049187 p.Ile540Met LB/B rs3181457 - GRIN1 Q05586 VAR_066598 p.Glu662Lys LP/P rs387906635 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] GRIN1 Q05586 VAR_069057 p.Ala682Ser LB/B rs1126448 - GRIN1 Q05586 VAR_079984 p.Arg217Trp LP/P rs200777850 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive (NDHMSR) [MIM:617820] GRIN1 Q05586 VAR_079985 p.Asp227His US rs869312865 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive (NDHMSR) [MIM:617820] GRIN1 Q05586 VAR_079986 p.Arg306Gln US - - GRIN1 Q05586 VAR_079987 p.Ala349Ser LB/B rs148008303 - GRIN1 Q05586 VAR_079988 p.Thr419Ala LB/B rs763133592 - GRIN1 Q05586 VAR_079989 p.Asp552Glu LP/P rs1554770054 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] GRIN1 Q05586 VAR_079991 p.Pro557Arg LP/P rs878853143 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] GRIN1 Q05586 VAR_079992 p.Gly618Arg LP/P rs1833614590 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] GRIN1 Q05586 VAR_079993 p.Gly620Arg LP/P rs797045047 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] GRIN1 Q05586 VAR_079994 p.Met641Ile US rs1060500046 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] GRIN1 Q05586 VAR_079995 p.Ala645Ser US rs1833621434 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] GRIN1 Q05586 VAR_079996 p.Tyr647Ser LP/P - Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] GRIN1 Q05586 VAR_079997 p.Asn650Lys US rs771610568 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] GRIN1 Q05586 VAR_079998 p.Ser688Tyr LP/P - Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] GRIN1 Q05586 VAR_079999 p.Gly815Arg LP/P rs797044925 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] GRIN1 Q05586 VAR_080000 p.Gly815Val LP/P - Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] GRIN1 Q05586 VAR_080001 p.Phe817Leu LP/P rs1554770624 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] GRIN1 Q05586 VAR_080002 p.Gly827Arg LP/P rs1451230055 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] GRIN1 Q05586 VAR_080003 p.Arg844Cys LP/P rs1554770667 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] GRIN2A Q12879 VAR_010938 p.Lys270Glu LB/B - - GRIN2A Q12879 VAR_065899 p.Asn615Lys LP/P rs397518447 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_067725 p.Pro57Leu US - - GRIN2A Q12879 VAR_067726 p.Phe183Ile LB/B rs587780353 - GRIN2A Q12879 VAR_067727 p.Asp252Asn LB/B rs868215122 - GRIN2A Q12879 VAR_067728 p.Ser278Phe LB/B rs148531310 - GRIN2A Q12879 VAR_067729 p.Glu371Lys LB/B rs149344082 - GRIN2A Q12879 VAR_067730 p.Glu373Lys US - - GRIN2A Q12879 VAR_067731 p.Gly449Glu LB/B rs139033056 - GRIN2A Q12879 VAR_067732 p.Phe459Ser US - - GRIN2A Q12879 VAR_067733 p.His595Arg LB/B rs551688681 - GRIN2A Q12879 VAR_067734 p.Ser598Phe US - - GRIN2A Q12879 VAR_067735 p.Met653Ile US - - GRIN2A Q12879 VAR_067736 p.Gly712Glu LB/B rs143031592 - GRIN2A Q12879 VAR_067737 p.Gly740Trp US - - GRIN2A Q12879 VAR_067738 p.Gly889Glu US - - GRIN2A Q12879 VAR_067739 p.Arg920Lys US - - GRIN2A Q12879 VAR_067740 p.Ser929Phe LB/B rs767268773 - GRIN2A Q12879 VAR_067741 p.Glu962Lys LB/B rs765370528 - GRIN2A Q12879 VAR_067742 p.Glu1073Lys US - - GRIN2A Q12879 VAR_067743 p.Pro1074Leu LB/B rs867432846 - GRIN2A Q12879 VAR_067744 p.Asp1153Asn LB/B rs267604687 - GRIN2A Q12879 VAR_067745 p.Glu1175Lys LB/B rs867464241 - GRIN2A Q12879 VAR_067746 p.Ala1276Gly US rs145063086 - GRIN2A Q12879 VAR_067747 p.Arg1285Lys LB/B rs367543132 - GRIN2A Q12879 VAR_067748 p.Arg1318Trp LB/B rs774419037 - GRIN2A Q12879 VAR_067749 p.Pro1366Leu US - - GRIN2A Q12879 VAR_067750 p.Asp1421Asn US - - GRIN2A Q12879 VAR_067751 p.Ser1425Leu LB/B rs976259560 - GRIN2A Q12879 VAR_067752 p.Glu1426Lys LB/B rs138415164 - GRIN2A Q12879 VAR_067753 p.Ser1462Cys US - - GRIN2A Q12879 VAR_069382 p.Pro552Arg LP/P rs397518450 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_069383 p.Leu649Val LP/P rs397514557 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070345 p.Pro79Arg LP/P rs1250662891 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070346 p.Ile184Ser US - Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070347 p.Cys231Tyr US - Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070348 p.Ala243Val LP/P - Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070349 p.Ala290Val LP/P rs199528312 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070350 p.Gly295Ser US rs568484876 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070351 p.Arg370Trp LP/P rs761168789 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070352 p.Cys436Arg LP/P rs1555496111 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070353 p.Gly483Arg LP/P - Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070354 p.Arg504Trp LP/P rs1360906241 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070355 p.Arg518His LP/P rs397518470 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070356 p.Thr531Met LP/P rs397518468 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070358 p.Ala548Thr LP/P - Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070359 p.Phe652Val LP/P rs397518471 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070360 p.Lys669Asn LP/P - Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070361 p.Ile694Thr LP/P - Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070362 p.Pro699Ser LP/P rs1555491648 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070363 p.Met705Val LP/P - Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070364 p.Glu714Lys LP/P - Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070365 p.Ala716Thr LP/P rs762659685 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070366 p.Ala727Thr LP/P rs1555488144 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070367 p.Asp731Asn LP/P rs796052549 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070368 p.Val734Leu LP/P - Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070369 p.Lys772Glu LP/P - Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070370 p.Ile814Thr US rs780654733 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070371 p.Ile904Phe LP/P rs1555482933 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070372 p.Asp933Asn US rs933322445 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070373 p.Asn976Ser LP/P rs886039239 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_070374 p.Asp1251Asn LP/P - Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_071624 p.Ser349Phe US - - GRIN2A Q12879 VAR_071625 p.Gly762Ala US - - GRIN2A Q12879 VAR_071626 p.Met817Val LP/P rs796052551 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_071627 p.Pro1132Leu US - - GRIN2A Q12879 VAR_071628 p.Pro1133Ser US - - GRIN2A Q12879 VAR_072750 p.Leu812Met LP/P - Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_078109 p.Asn380Asp US rs1057519551 - GRIN2A Q12879 VAR_078110 p.Ala716Asp US rs1057519552 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_078111 p.Asn989Ser US rs531782747 - GRIN2A Q12879 VAR_078690 p.Asp884Asn US rs777684328 - GRIN2A Q12879 VAR_079929 p.Thr143Ile US - - GRIN2A Q12879 VAR_079930 p.Thr189Asn US rs1377082706 - GRIN2A Q12879 VAR_079931 p.Pro336Ser LB/B rs148511104 - GRIN2A Q12879 VAR_079932 p.Val452Met LB/B rs145956175 - GRIN2A Q12879 VAR_079933 p.Val506Ala LP/P rs796052543 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_079934 p.Phe576Ser LB/B - - GRIN2A Q12879 VAR_079935 p.Val685Gly LP/P rs796052548 Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A Q12879 VAR_079936 p.Val852Met LB/B rs150316865 - GRIN2A Q12879 VAR_079937 p.Ala922Val LB/B rs200037904 - GRIN2A Q12879 VAR_079938 p.Asp937Asn LB/B rs769602505 - GRIN2A Q12879 VAR_079939 p.Ala968Thr US - - GRIN2A Q12879 VAR_079940 p.Val998Met US rs1258974659 - GRIN2A Q12879 VAR_079941 p.Thr1064Ala LB/B rs138809301 - GRIN2A Q12879 VAR_079942 p.Thr1229Ser US rs747136651 - GRIN2B Q13224 VAR_011317 p.Ser407Asn LB/B - - GRIN2B Q13224 VAR_065900 p.Arg682Cys LP/P rs387906636 Intellectual developmental disorder, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970] GRIN2B Q13224 VAR_069384 p.Pro553Leu LP/P rs397514556 Intellectual developmental disorder, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970] GRIN2B Q13224 VAR_072663 p.Arg540His LP/P rs672601378 Developmental and epileptic encephalopathy 27 (DEE27) [MIM:616139] GRIN2B Q13224 VAR_072664 p.Asn615Ile LP/P rs672601377 Developmental and epileptic encephalopathy 27 (DEE27) [MIM:616139] GRIN2B Q13224 VAR_072665 p.Val618Gly LP/P rs672601376 Developmental and epileptic encephalopathy 27 (DEE27) [MIM:616139] GRIN2B Q13224 VAR_076764 p.Cys456Tyr LP/P rs397514555 Intellectual developmental disorder, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970] GRIN2B Q13224 VAR_078235 p.Val15Met US rs1057519553 Developmental and epileptic encephalopathy 27 (DEE27) [MIM:616139] GRIN2B Q13224 VAR_078236 p.Pro1439Ala US rs758042475 - GRIN2B Q13224 VAR_078647 p.Gly820Glu LP/P rs797044849 Intellectual developmental disorder, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970] GRIN2B Q13224 VAR_079943 p.Val18Ile LB/B rs201094029 - GRIN2B Q13224 VAR_079944 p.Ile50Asn US - - GRIN2B Q13224 VAR_079945 p.Ala271Val LB/B rs138098032 - GRIN2B Q13224 VAR_079946 p.Leu362Met US - - GRIN2B Q13224 VAR_079947 p.Glu413Gly LP/P rs527236034 Intellectual developmental disorder, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970] GRIN2B Q13224 VAR_079948 p.Cys436Arg LP/P rs1565478152 Intellectual developmental disorder, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970] GRIN2B Q13224 VAR_079949 p.Cys461Phe LP/P rs1949427787 Intellectual developmental disorder, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970] GRIN2B Q13224 VAR_079950 p.Arg696His LP/P rs1555103971 Intellectual developmental disorder, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970] GRIN2B Q13224 VAR_079951 p.Leu825Val US rs1948651813 - GRIN2B Q13224 VAR_079952 p.Gln1014Arg US - - GRIN2B Q13224 VAR_079953 p.Gly1026Ser LB/B rs201963596 - GRIN2B Q13224 VAR_079954 p.Met1342Arg LB/B - - GRIN2B Q13224 VAR_079955 p.Ser1415Leu US rs201463390 - GRIN2B Q13224 VAR_079956 p.Leu1424Phe LB/B rs748128078 - GRIN2B Q13224 VAR_079957 p.Ser1452Phe US rs756790727 - GRIN2C Q14957 VAR_037634 p.Arg1209Ser LB/B rs3744215 - GRIN2C Q14957 VAR_079959 p.Val90Ile LB/B rs192960268 - GRIN2C Q14957 VAR_079960 p.Ala166Val LB/B rs201199917 - GRIN2C Q14957 VAR_079961 p.Met573Thr LB/B - - GRIN2C Q14957 VAR_079962 p.Ala641Thr LB/B rs746610735 - GRIN2C Q14957 VAR_079963 p.Arg679Cys US rs1381530257 - GRIN2C Q14957 VAR_079964 p.Ile863Thr US rs1308468356 - GRIN2C Q14957 VAR_079965 p.Gln871Arg LB/B rs765016248 - GRIN2C Q14957 VAR_079966 p.Pro877Ser LB/B rs139011774 - GRIN2C Q14957 VAR_079967 p.Ser911Ile LB/B rs370546831 - GRIN2C Q14957 VAR_079968 p.Pro982Ala LB/B rs960726960 - GRIN2C Q14957 VAR_079969 p.Ser989Pro US rs552196496 - GRIN2C Q14957 VAR_079970 p.Ser995Leu US - - GRIN2C Q14957 VAR_079971 p.His1079Tyr LB/B rs889196426 - GRIN2C Q14957 VAR_079972 p.Pro1141Ala LB/B rs751640851 - GRIN2C Q14957 VAR_079973 p.Gly1180Arg LB/B rs115230539 - GRIN2C Q14957 VAR_079974 p.Thr1196Ile LB/B rs143282101 - GRIN2D O15399 VAR_035698 p.Pro140Ser US - A breast cancer sample GRIN2D O15399 VAR_035699 p.Gly286Arg US rs1259830926 A breast cancer sample GRIN2D O15399 VAR_035700 p.Glu527Gly US - A breast cancer sample GRIN2D O15399 VAR_077103 p.Val667Ile LP/P rs886040861 Developmental and epileptic encephalopathy 46 (DEE46) [MIM:617162] GRIN2D O15399 VAR_079975 p.Leu466Val US - - GRIN2D O15399 VAR_079976 p.Met592Leu US - - GRIN2D O15399 VAR_079977 p.Met733Val US - - GRIN2D O15399 VAR_079978 p.Arg872His US rs750543659 - GRIN2D O15399 VAR_079979 p.Met883Ile LB/B rs781567305 - GRIN2D O15399 VAR_079980 p.Ala922Val US rs571334598 - GRIN2D O15399 VAR_079981 p.Ala926Thr US - - GRIN2D O15399 VAR_079982 p.Ala982Pro LB/B rs1225338399 - GRIN2D O15399 VAR_079983 p.Gly1317Ser LB/B rs191119443 - GRIN3A Q8TCU5 VAR_019672 p.Val362Met LB/B rs10989591 - GRIN3A Q8TCU5 VAR_019673 p.Gly487Arg LB/B rs10989589 - GRIN3A Q8TCU5 VAR_019674 p.Asp835Asn LB/B rs10989563 - GRIN3A Q8TCU5 VAR_019675 p.Arg1041Gln LB/B rs3739722 - GRIN3A Q8TCU5 VAR_047150 p.Arg480His LB/B rs34755188 - GRIN3A Q8TCU5 VAR_079892 p.Ser72Ile LB/B rs558734093 - GRIN3A Q8TCU5 VAR_079893 p.Arg111Gly US - - GRIN3A Q8TCU5 VAR_079894 p.Gly116Ser LB/B rs111415222 - GRIN3A Q8TCU5 VAR_079896 p.Arg337Trp LB/B rs773593066 - GRIN3A Q8TCU5 VAR_079897 p.Gly373Arg US - - GRIN3A Q8TCU5 VAR_079898 p.Ile375Thr LB/B rs144427058 - GRIN3A Q8TCU5 VAR_079899 p.Ser434Pro LB/B rs776062103 - GRIN3A Q8TCU5 VAR_079900 p.Tyr493Phe LB/B rs773322226 - GRIN3A Q8TCU5 VAR_079902 p.Asn565Ser LB/B rs371244839 - GRIN3A Q8TCU5 VAR_079903 p.Lys586Asn LB/B rs142284927 - GRIN3A Q8TCU5 VAR_079904 p.Val641Leu US rs1360008284 - GRIN3A Q8TCU5 VAR_079905 p.Arg793Ser LB/B rs144770241 - GRIN3A Q8TCU5 VAR_079906 p.Thr921Met LB/B rs144712629 - GRIN3A Q8TCU5 VAR_079907 p.Tyr956His LB/B rs141253502 - GRIN3A Q8TCU5 VAR_079908 p.Ile1028Asn US rs755464674 - GRIN3B O60391 VAR_019676 p.Thr157Met LB/B rs2240154 - GRIN3B O60391 VAR_019677 p.Arg404Trp LB/B rs4807399 - GRIN3B O60391 VAR_019678 p.Trp414Arg LB/B rs2240157 - GRIN3B O60391 VAR_019679 p.Thr577Met LB/B rs2240158 - GRIN3B O60391 VAR_019680 p.Ala845Thr LB/B rs2285906 - GRIN3B O60391 VAR_061188 p.Thr612Ala LB/B rs60621387 - GRIN3B O60391 VAR_079909 p.Arg180Cys LB/B rs201484790 - GRIN3B O60391 VAR_079910 p.Arg194Trp LB/B rs199717057 - GRIN3B O60391 VAR_079911 p.Arg247Gln LB/B rs370645758 - GRIN3B O60391 VAR_079912 p.Arg247Trp LB/B rs143106549 - GRIN3B O60391 VAR_079913 p.Ala285Gly US - - GRIN3B O60391 VAR_079914 p.Glu332Lys LB/B rs200777913 - GRIN3B O60391 VAR_079915 p.Arg336Cys US rs1043645806 - GRIN3B O60391 VAR_079916 p.Arg350His LB/B rs144334537 - GRIN3B O60391 VAR_079917 p.Pro381Leu US rs935843296 - GRIN3B O60391 VAR_079918 p.Arg470His US rs1253903191 - GRIN3B O60391 VAR_079919 p.Leu472Pro US rs1599457596 - GRIN3B O60391 VAR_079920 p.Gly515Ser LB/B rs375104717 - GRIN3B O60391 VAR_079921 p.Ala583Val LB/B rs769335041 - GRIN3B O60391 VAR_079922 p.Arg598Cys LB/B rs139187576 - GRIN3B O60391 VAR_079923 p.Arg608His LB/B rs540348423 - GRIN3B O60391 VAR_079924 p.Thr641Met US rs778377243 - GRIN3B O60391 VAR_079925 p.Ser678Leu LB/B rs138448790 - GRIN3B O60391 VAR_079926 p.Glu919Asp US rs750024778 - GRIN3B O60391 VAR_079927 p.Val928Met LB/B rs200419950 - GRIN3B O60391 VAR_079928 p.Ala948Val US rs769956227 - GRINA Q7Z429 VAR_037875 p.Ser107Asn LB/B rs17854152 - GRIP1 Q9Y3R0 VAR_056904 p.Ala322Thr LB/B rs17102531 - GRIPAP1 Q4V328 VAR_080637 p.Leu179Pro LB/B rs61735977 - GRK1 Q15835 VAR_006215 p.Val380Asp LP/P rs777094000 Night blindness, congenital stationary, Oguchi type 2 (CSNBO2) [MIM:613411] GRK1 Q15835 VAR_008283 p.Glu136Gln LB/B rs542688076 - GRK1 Q15835 VAR_008284 p.Thr298Met LB/B rs572803634 - GRK1 Q15835 VAR_008285 p.Asn330Ser LB/B rs375409897 - GRK1 Q15835 VAR_008286 p.Arg438His LB/B rs750619057 - GRK1 Q15835 VAR_008287 p.Cys514Ser LB/B rs771561763 - GRK1 Q15835 VAR_008288 p.Met522Thr LB/B rs779749742 - GRK1 Q15835 VAR_008289 p.Ser536Leu LB/B rs553969577 - GRK1 Q15835 VAR_037904 p.Pro391His LP/P rs570621429 Night blindness, congenital stationary, Oguchi type 2 (CSNBO2) [MIM:613411] GRK2 P25098 VAR_040378 p.Ile184Thr LB/B rs55696045 - GRK2 P25098 VAR_040379 p.Arg578Gln US - A colorectal adenocarcinoma sample GRK3 P35626 VAR_028005 p.Val409Met LB/B rs2272859 - GRK3 P35626 VAR_040380 p.Arg50Ser LB/B rs55700971 - GRK3 P35626 VAR_040381 p.Asn60Ser LB/B rs55740593 - GRK3 P35626 VAR_040382 p.Arg104Lys US - A lung bronchoalveolar carcinoma sample GRK4 P32298 VAR_007806 p.Val247Ile LB/B rs1140085 - GRK4 P32298 VAR_024573 p.Arg65Leu LB/B rs2960306 - GRK4 P32298 VAR_024574 p.Ala142Val LB/B rs1024323 - GRK4 P32298 VAR_024575 p.Val486Ala LB/B rs1801058 - GRK4 P32298 VAR_040516 p.Leu425Pro LB/B - - GRK4 P32298 VAR_046043 p.Ala116Thr LB/B rs34857805 - GRK4 P32298 VAR_046044 p.His383Gln LB/B rs55852353 - GRK4 P32298 VAR_046045 p.Val473Ile LB/B rs35024854 - GRK4 P32298 VAR_046046 p.Ala495Thr LB/B rs35463176 - GRK4 P32298 VAR_051621 p.Asp95His LB/B rs13305979 - GRK4 P32298 VAR_051622 p.Thr183Arg LB/B rs45538934 - GRK4 P32298 VAR_051623 p.Ala440Val LB/B rs747003103 - GRK5 P34947 VAR_040517 p.Gln41Leu LB/B rs2230345 - GRK5 P34947 VAR_040518 p.Ala119Val LB/B rs55980792 - GRK5 P34947 VAR_040519 p.Gly122Ser LB/B rs55902633 - GRK5 P34947 VAR_040520 p.Thr129Met LB/B rs34679178 - GRK5 P34947 VAR_040521 p.Leu141Ile LB/B rs56254855 - GRK5 P34947 VAR_040522 p.Asp163Glu US - A lung neuroendocrine carcinoma sample GRK5 P34947 VAR_040523 p.Arg304His LB/B rs2230349 - GRK6 P43250 VAR_040524 p.Arg31Gln US rs141014084 A gastric adenocarcinoma sample GRK6 P43250 VAR_040525 p.Thr73Met LB/B rs56382815 - GRK6 P43250 VAR_040526 p.Ile275Met US - A breast infiltrating ductal carcinoma sample GRK7 Q8WTQ7 VAR_040527 p.Arg81His LB/B rs34429284 - GRK7 Q8WTQ7 VAR_040528 p.Cys113Trp LB/B rs56070798 - GRK7 Q8WTQ7 VAR_040529 p.Ser115Cys LB/B rs34769632 - GRK7 Q8WTQ7 VAR_040530 p.Ser127Thr LB/B rs35318124 - GRK7 Q8WTQ7 VAR_040531 p.Val196Gly LB/B rs55707760 - GRK7 Q8WTQ7 VAR_040532 p.Val196Met LB/B rs56019094 - GRK7 Q8WTQ7 VAR_040533 p.Arg226Trp LB/B rs35566288 - GRK7 Q8WTQ7 VAR_040534 p.Ser253Phe US - A metastatic melanoma sample GRK7 Q8WTQ7 VAR_040535 p.Glu309Gln LB/B rs55824414 - GRK7 Q8WTQ7 VAR_040536 p.Val313Ile LB/B rs56076641 - GRK7 Q8WTQ7 VAR_040537 p.Glu443Gly LB/B rs36009541 - GRK7 Q8WTQ7 VAR_040538 p.Pro460Thr LB/B rs33928105 - GRK7 Q8WTQ7 VAR_051624 p.Arg461Cys LB/B rs36004830 - GRM1 Q13255 VAR_024482 p.Val929Ile LB/B rs2941 - GRM1 Q13255 VAR_028184 p.Ser34Tyr LB/B rs12190109 - GRM1 Q13255 VAR_028185 p.Arg285Lys LB/B rs7760248 - GRM1 Q13255 VAR_028186 p.Glu741Asp LB/B rs3025919 - GRM1 Q13255 VAR_028187 p.Gly884Glu LB/B rs362936 - GRM1 Q13255 VAR_028188 p.Ser993Pro LB/B rs6923492 - GRM1 Q13255 VAR_036194 p.Arg696Trp US rs1450433570 A colorectal cancer sample GRM1 Q13255 VAR_055875 p.Ser593Pro LB/B rs1047005 - GRM1 Q13255 VAR_080186 p.Tyr262Cys LP/P rs1554274719 Spinocerebellar ataxia 44 (SCA44) [MIM:617691] GRM1 Q13255 VAR_080187 p.Tyr792Cys LP/P rs1554308513 Spinocerebellar ataxia 44 (SCA44) [MIM:617691] GRM1 Q13255 VAR_081782 p.Leu454Phe LP/P - Spinocerebellar ataxia, autosomal recessive, 13 (SCAR13) [MIM:614831] GRM3 Q14832 VAR_049274 p.Gly475Asp LB/B rs17161026 - GRM4 Q14833 VAR_012992 p.Val797Ile LB/B rs149730753 - GRM4 Q14833 VAR_049275 p.Leu169Phe LB/B rs452752 - GRM6 O15303 VAR_030756 p.Gly150Ser LP/P rs62638202 Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270] GRM6 O15303 VAR_030757 p.Glu781Lys LP/P rs62638625 Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270] GRM6 O15303 VAR_036195 p.Ser191Phe US - A breast cancer sample GRM6 O15303 VAR_055876 p.Glu227Val LB/B rs17078898 - GRM6 O15303 VAR_055877 p.Ile236Phe LB/B rs17078896 - GRM6 O15303 VAR_055878 p.Met712Val LB/B rs17078877 - GRM6 O15303 VAR_055879 p.Ala807Val LB/B rs17078874 - GRM6 O15303 VAR_055880 p.Thr817Ser LB/B rs17078857 - GRM6 O15303 VAR_059310 p.Gln59Pro LB/B rs2645329 - GRM6 O15303 VAR_069817 p.Pro46Leu LP/P rs62638197 Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270] GRM6 O15303 VAR_069818 p.Gly58Arg LP/P rs62638198 Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270] GRM6 O15303 VAR_069819 p.Ile405Thr LP/P rs121434304 Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270] GRM6 O15303 VAR_069820 p.Cys522Tyr LP/P rs62638208 Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270] GRM7 Q14831 VAR_003584 p.Tyr433Phe LB/B rs2229902 - GRM7 Q14831 VAR_049276 p.Ile495Val LB/B rs7634846 - GRM7 Q14831 VAR_049277 p.Gly745Glu LB/B rs1485174 - GRM7 Q14831 VAR_084620 p.Ile154Thr LP/P rs1114167298 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) [MIM:618922] GRM7 Q14831 VAR_084622 p.Arg658Gln US rs769709112 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) [MIM:618922] GRM7 Q14831 VAR_084623 p.Arg658Trp US rs1114167300 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) [MIM:618922] GRM7 Q14831 VAR_084625 p.Thr675Lys US rs1114167301 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) [MIM:618922] GRM7 Q14831 VAR_084627 p.Glu891Lys US rs746833089 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) [MIM:618922] GRM8 O00222 VAR_014446 p.Ser10Cys LB/B rs769194 - GRM8 O00222 VAR_014447 p.Phe21Cys LB/B rs769202 - GRM8 O00222 VAR_014448 p.Arg392Gln LB/B rs2234947 - GRM8 O00222 VAR_014449 p.Val548Gly LB/B rs2234948 - GRM8 O00222 VAR_049278 p.Ile265Thr LB/B rs17150343 - GRM8 O00222 VAR_054477 p.Phe362Tyr LB/B rs78124913 - GRM8 O00222 VAR_054478 p.Gly368Asp LB/B rs78947184 - GRM8 O00222 VAR_054479 p.Leu430Phe LB/B rs75863532 - GRM8 O00222 VAR_054752 p.Arg343Gln LB/B rs13309334 - GRM8 O00222 VAR_054753 p.Ile768Asn LB/B rs1051433 - GRM8 O00222 VAR_054754 p.Ser902Ile LB/B rs10225567 - GRN P28799 VAR_014830 p.Gly515Ala LB/B rs25647 - GRN P28799 VAR_044451 p.Ala9Asp LP/P rs63751243 Ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:607485] GRN P28799 VAR_064625 p.Arg19Trp LB/B rs63750723 - GRN P28799 VAR_064626 p.Arg55Trp LB/B rs1555610922 - GRN P28799 VAR_064627 p.Ala69Thr LB/B rs199944486 - GRN P28799 VAR_064629 p.Ser120Tyr LB/B rs63750043 - GRN P28799 VAR_064630 p.Thr182Met LB/B rs63750479 - GRN P28799 VAR_064631 p.Cys221Ser LB/B rs758322775 - GRN P28799 VAR_064632 p.Pro275Leu LB/B rs529849967 - GRN P28799 VAR_064633 p.Asp376Asn LB/B rs143030899 - GRN P28799 VAR_064634 p.Ser398Leu LB/B rs148213321 - GRN P28799 VAR_064635 p.Arg433Gln LB/B rs114248177 - GRN P28799 VAR_064636 p.Arg564His LB/B rs971443926 - GRP P07492 VAR_027834 p.Arg4Ser LB/B rs1062557 - GRSF1 Q12849 VAR_047537 p.Asp277Tyr LB/B rs17854012 - GRWD1 Q9BQ67 VAR_046334 p.Arg319Gln LB/B rs2302951 - GRXCR1 A8MXD5 VAR_063159 p.Glu9Lys LB/B rs78136490 - GRXCR1 A8MXD5 VAR_063160 p.Pro38Leu LP/P rs367784906 Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285] GRXCR1 A8MXD5 VAR_063161 p.Gly51Glu LB/B rs727505186 - GRXCR1 A8MXD5 VAR_063162 p.Gly64Ser LP/P rs370551174 Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285] GRXCR1 A8MXD5 VAR_063163 p.Gly91Val LB/B rs113203706 - GRXCR1 A8MXD5 VAR_063164 p.Arg138Cys LP/P rs267606856 Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285] GRXCR1 A8MXD5 VAR_063165 p.Phe153Val LP/P rs770874273 Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285] GRXCR2 A6NFK2 VAR_060192 p.Leu181Phe LB/B rs2569006 - GSAP A4D1B5 VAR_043467 p.His47Arg LB/B rs6949654 - GSAP A4D1B5 VAR_043468 p.Gly305Glu LB/B rs1527263 - GSAP A4D1B5 VAR_043469 p.Val649Ile LB/B rs17151692 - GSAP A4D1B5 VAR_043470 p.Trp653Leu LB/B rs17151689 - GSC2 O15499 VAR_008549 p.Arg47Cys LB/B rs34341950 - GSDMA Q96QA5 VAR_035010 p.Arg18Gln LB/B rs3894194 - GSDMA Q96QA5 VAR_035011 p.Val128Leu LB/B rs7212938 - GSDMA Q96QA5 VAR_035012 p.Glu130Lys LB/B rs7212944 - GSDMA Q96QA5 VAR_062005 p.Thr314Asn LB/B rs56030650 - GSDMB Q8TAX9 VAR_042632 p.Glu122Gly LB/B rs12450091 - GSDMB Q8TAX9 VAR_042633 p.Thr132Ala LB/B rs4619433 - GSDMB Q8TAX9 VAR_042634 p.Asp250Gly US - A breast cancer sample GSDMB Q8TAX9 VAR_042635 p.Gly304Arg LB/B rs2305479 - GSDMB Q8TAX9 VAR_042636 p.Pro311Ser LB/B rs2305480 - GSDMB Q8TAX9 VAR_042637 p.Arg330Cys LB/B rs16965388 - GSDMC Q9BYG8 VAR_028138 p.Pro23Ser LB/B rs10090835 - GSDMC Q9BYG8 VAR_028139 p.Arg150Lys LB/B rs16904151 - GSDMC Q9BYG8 VAR_028140 p.Met475Thr LB/B rs4144738 - GSDME O60443 VAR_030824 p.Pro142Thr LB/B rs754554 - GSDME O60443 VAR_030825 p.Val207Met LB/B rs12540919 - GSDME O60443 VAR_053102 p.Met174Thr LB/B rs876306 - GSDME O60443 VAR_083903 p.Asp14Tyr US - A breast carcinoma sample GSDME O60443 VAR_083904 p.Asp18Val US - A colon adenocarcinoma sample GSDME O60443 VAR_083905 p.Asn24Asp US - A colon adenocarcinoma sample GSDME O60443 VAR_083906 p.Trp44Cys US - A lung cancer adenocarcinoma sample GSDME O60443 VAR_083907 p.Arg48Ile US - An uterine corpus endometrioid carcinoma sample GSDME O60443 VAR_083908 p.Ile137Thr US - An uterine corpus endometrioid carcinoma sample GSDME O60443 VAR_083909 p.Gly199Glu US - An uterine corpus endometrioid carcinoma sample GSDME O60443 VAR_083910 p.Pro212Leu US - A melanoma sample GSDME O60443 VAR_083911 p.Ile217Asn US - A lung cancer adenocarcinoma sample GSE1 Q14687 VAR_029546 p.Val936Ala LB/B rs17853763 - GSE1 Q14687 VAR_029547 p.Arg1153Gln LB/B rs2303203 - GSE1 Q14687 VAR_035926 p.Arg627Trp US rs757859891 A colorectal cancer sample GSG1 Q2KHT4 VAR_042684 p.Phe39Leu LB/B rs2306765 - GSG1 Q2KHT4 VAR_042685 p.Gly67Val LB/B rs11546332 - GSK3A P49840 VAR_040539 p.Leu461Phe LB/B rs35454502 - GSK3A P49840 VAR_051625 p.Gln109Glu LB/B rs35978177 - GSN P06396 VAR_007718 p.Asp214Asn LP/P rs121909715 Amyloidosis 5 (AMYL5) [MIM:105120] GSN P06396 VAR_007719 p.Asp214Tyr LP/P rs121909715 Amyloidosis 5 (AMYL5) [MIM:105120] GSN P06396 VAR_024690 p.Ala129Thr LB/B rs2230287 - GSN P06396 VAR_033958 p.Arg668Leu LB/B rs9696578 - GSN P06396 VAR_036337 p.Ser22Leu US - A breast cancer sample GSN P06396 VAR_036338 p.Thr201Ile US - A breast cancer sample GSN P06396 VAR_036339 p.Ser611Asn US - A breast cancer sample GSN P06396 VAR_061982 p.Asn231Asp LB/B rs11550199 - GSPT2 Q8IYD1 VAR_042431 p.Pro23Thr LB/B rs17855593 - GSR P00390 VAR_014554 p.Pro314His LB/B rs2020916 - GSR P00390 VAR_019079 p.Arg153Cys LB/B rs8190955 - GSR P00390 VAR_019080 p.Gly232Ser LB/B rs8190976 - GSR P00390 VAR_019081 p.Ile261Val LB/B rs8190997 - GSR P00390 VAR_019082 p.Glu297Asp LB/B rs8191004 - GSR P00390 VAR_051775 p.Gly232Arg LB/B rs8190976 - GSR P00390 VAR_083445 p.Gly374Ala LP/P rs1586033745 Hemolytic anemia due to glutathione reductase deficiency (HAGRD) [MIM:618660] GSS P48637 VAR_003602 p.Ala26Asp LP/P rs759253242 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003603 p.Leu188Pro LP/P - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003604 p.Asp219Ala LP/P rs28938472 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003605 p.Asp219Gly LP/P rs28938472 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003606 p.Leu254Arg LP/P - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003607 p.Arg267Trp LP/P rs121909308 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003608 p.Tyr270Cys LP/P rs1325986563 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003609 p.Tyr270His LP/P - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003610 p.Arg283Cys LP/P rs121909309 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003611 p.Leu286Gln LP/P rs1296000099 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003612 p.Arg330Cys LP/P rs148640446 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003613 p.Gly464Val LP/P - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003614 p.Asp469Glu LP/P rs1419704426 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_025047 p.Arg236Gln LB/B rs34239729 - GSS P48637 VAR_025048 p.Lys437Glu LB/B rs34852238 - GSS P48637 VAR_078567 p.Leu301Pro LP/P - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSTA1 P08263 VAR_033978 p.Thr19Ile LB/B rs1051578 - GSTA1 P08263 VAR_049482 p.Pro113Gln LB/B rs1051745 - GSTA1 P08263 VAR_049483 p.Lys117Gln LB/B rs1051757 - GSTA2 P09210 VAR_012205 p.Ser112Thr LB/B rs2180314 - GSTA2 P09210 VAR_012206 p.Glu210Ala LB/B rs6577 - GSTA2 P09210 VAR_014495 p.Pro110Ser LB/B rs2234951 - GSTA2 P09210 VAR_014496 p.Val149Ala LB/B rs2266631 - GSTA3 Q16772 VAR_049484 p.Ile71Leu LB/B rs1052661 - GSTA3 Q16772 VAR_049485 p.Asn73Asp LB/B rs41273858 - GSTA3 Q16772 VAR_062276 p.Gly36Glu LB/B rs45504096 - GSTA3 Q16772 VAR_062277 p.Arg113Gln LB/B rs45602042 - GSTA3 Q16772 VAR_062278 p.Ala208Thr LB/B rs45620832 - GSTA4 O15217 VAR_022210 p.Leu100Pro LB/B rs45551133 - GSTA4 O15217 VAR_022211 p.Thr163Ala LB/B rs4147617 - GSTA5 Q7RTV2 VAR_024483 p.Val55Ile LB/B rs2397118 - GSTM1 P09488 VAR_003617 p.Lys173Asn LB/B rs1065411 - GSTM1 P09488 VAR_014497 p.Ser210Thr LB/B rs449856 - GSTM2 P28161 VAR_049486 p.Ser173Asn LB/B rs2229050 - GSTM3 P21266 VAR_014498 p.Val224Ile LB/B rs7483 - GSTM4 Q03013 VAR_033979 p.Ser2Pro LB/B rs3211190 - GSTM4 Q03013 VAR_033980 p.Ala160Val LB/B rs17838158 - GSTM4 Q03013 VAR_049487 p.Leu208Val LB/B rs112611763 - GSTM4 Q03013 VAR_049488 p.Tyr209Phe LB/B rs112330158 - GSTM4 Q03013 VAR_049489 p.Arg211Lys LB/B rs200675176 - GSTM4 Q03013 VAR_049490 p.Val212Met LB/B rs149370166 - GSTM5 P46439 VAR_049491 p.Leu179Pro LB/B rs2227963 - GSTM5 P46439 VAR_065098 p.Ala67Thr LB/B rs17854972 - GSTO1 P78417 VAR_016811 p.Ala140Asp LB/B rs4925 - GSTO1 P78417 VAR_024484 p.Glu208Lys LB/B rs11509438 - GSTO1 P78417 VAR_026583 p.Ala236Val LB/B rs11509439 - GSTO1 P78417 VAR_029269 p.Ser86Cys LB/B rs11509436 - GSTO1 P78417 VAR_061231 p.Cys32Tyr LB/B rs45529437 - GSTO2 Q9H4Y5 VAR_016812 p.Asn142Asp LB/B rs156697 - GSTO2 Q9H4Y5 VAR_049492 p.Cys130Tyr LB/B rs45582439 - GSTP1 P09211 VAR_014499 p.Ile105Val LB/B rs1695 - GSTP1 P09211 VAR_014500 p.Ala114Val LB/B rs1138272 - GSTP1 P09211 VAR_049493 p.Gly169Asp LB/B rs41462048 - GSTT1 P30711 VAR_014501 p.Ala21Thr LB/B rs1601976480 - GSTT1 P30711 VAR_014502 p.Asp141Asn LB/B rs1601989145 - GSTT1 P30711 VAR_014503 p.Val169Ile LB/B rs2266637 - GSTT1 P30711 VAR_014504 p.Glu173Lys LB/B rs1601989046 - GSTT2B P0CG30 VAR_033982 p.Met139Ile LB/B rs1622002 - GSTZ1 O43708 VAR_009705 p.Lys32Glu LB/B rs7975 - GSTZ1 O43708 VAR_009706 p.Arg42Gly LB/B rs7972 - GSTZ1 O43708 VAR_009707 p.Met82Thr LB/B rs1046428 - GSTZ1 O43708 VAR_014505 p.Asn133His LB/B rs2234955 - GSTZ1 O43708 VAR_079260 p.Val99Met LP/P - Maleylacetoacetate isomerase deficiency (MAAID) [MIM:617596] GSTZ1 O43708 VAR_079261 p.Ala150Val LP/P - Maleylacetoacetate isomerase deficiency (MAAID) [MIM:617596] GSX2 Q9BZM3 VAR_049580 p.Gly107Ser LB/B rs13144341 - GSX2 Q9BZM3 VAR_083533 p.Gln251Arg LP/P rs1578005344 Diencephalic-mesencephalic junction dysplasia syndrome 2 (DMJDS2) [MIM:618646] GTDC1 Q4AE62 VAR_037136 p.Met137Ile LB/B rs3731958 - GTF2A1 P52655 VAR_035667 p.Leu30Val US - A breast cancer sample GTF2A1 P52655 VAR_054043 p.Ala109Pro LB/B rs17111579 - GTF2B Q00403 VAR_011977 p.Pro19Ser LB/B rs1804499 - GTF2B Q00403 VAR_035722 p.Arg132Gln US rs144944840 A colorectal cancer sample GTF2E1 P29083 VAR_020321 p.Pro366Ser LB/B rs3732401 - GTF2E2 P29084 VAR_039003 p.Lys183Arg LB/B rs2978277 - GTF2E2 P29084 VAR_052281 p.Ile133Thr LB/B rs2229299 - GTF2E2 P29084 VAR_076893 p.Ala150Pro LP/P rs875989846 Trichothiodystrophy 6, non-photosensitive (TTD6) [MIM:616943] GTF2E2 P29084 VAR_076894 p.Asp187Tyr LP/P rs875989847 Trichothiodystrophy 6, non-photosensitive (TTD6) [MIM:616943] GTF2F1 P35269 VAR_039004 p.Ala3Val LB/B rs34826931 - GTF2H1 P32780 VAR_014345 p.Arg234Trp LB/B rs4150603 - GTF2H1 P32780 VAR_014346 p.Ser285Phe LB/B rs4150636 - GTF2H1 P32780 VAR_014347 p.Leu517Val LB/B rs4150665 - GTF2H2 Q13888 VAR_011664 p.Ile151Met LB/B rs2576895 - GTF2H2 Q13888 VAR_011665 p.Val236Leu LB/B rs201102513 - GTF2H4 Q92759 VAR_019056 p.Arg337Gln LB/B rs3218820 - GTF2H5 Q6ZYL4 VAR_022647 p.Leu21Pro LP/P rs121434365 Trichothiodystrophy 3, photosensitive (TTD3) [MIM:616395] GTF2I P78347 VAR_051026 p.Leu174Val LB/B rs1057896 - GTF2IRD1 Q9UHL9 VAR_013446 p.Met652Val LB/B rs2301895 - GTF2IRD2 Q86UP8 VAR_039127 p.Asn514His LB/B rs2529318 - GTF3A Q92664 VAR_014824 p.Val245Leu LB/B rs7323 - GTF3C1 Q12789 VAR_047534 p.Gln1889Glu LB/B rs35233306 - GTF3C1 Q12789 VAR_047535 p.Phe1959Ser LB/B rs12919017 - GTF3C1 Q12789 VAR_047536 p.Glu2077Lys LB/B rs2228248 - GTF3C3 Q9Y5Q9 VAR_061902 p.Asn70Ser LB/B rs11559078 - GTF3C5 Q9Y5Q8 VAR_053727 p.Asp445Asn LB/B rs637435 - GTPBP1 O00178 VAR_049496 p.Gly91Arg LB/B rs11547402 - GTPBP10 A4D1E9 VAR_037543 p.Cys88Trp LB/B rs42663 - GTPBP10 A4D1E9 VAR_037544 p.Asn110Ser LB/B rs42664 - GTPBP10 A4D1E9 VAR_037545 p.Leu164Phe LB/B rs35001814 - GTPBP10 A4D1E9 VAR_037546 p.Met368Ile LB/B rs17863999 - GTPBP3 Q969Y2 VAR_031103 p.Val250Ala LB/B rs3810206 - GTPBP3 Q969Y2 VAR_031104 p.Arg368His LB/B rs3745193 - GTPBP3 Q969Y2 VAR_073298 p.Arg3Leu US rs1057518138 Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198] GTPBP3 Q969Y2 VAR_073299 p.Glu142Lys LP/P - Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198] GTPBP3 Q969Y2 VAR_073300 p.Glu159Val LP/P rs730880255 Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198] GTPBP3 Q969Y2 VAR_073301 p.Ala162Pro LP/P - Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198] GTPBP3 Q969Y2 VAR_073302 p.Ala222Gly LP/P rs373370177 Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198] GTPBP3 Q969Y2 VAR_073303 p.Glu225Lys LB/B rs778983997 - GTPBP3 Q969Y2 VAR_073304 p.Pro257His LP/P - Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198] GTPBP3 Q969Y2 VAR_073306 p.Ala322Pro LB/B rs372174278 - GTPBP3 Q969Y2 VAR_073307 p.Asp337His LP/P rs886037735 Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198] GTPBP3 Q969Y2 VAR_073308 p.Glu459Lys LP/P rs886037734 Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198] GTPBP4 Q9BZE4 VAR_068801 p.Arg525His LB/B rs3207775 - GTPBP8 Q8N3Z3 VAR_048934 p.Gln242His LB/B rs1054263 - GTSE1 Q9NYZ3 VAR_021973 p.Ser489Leu LB/B rs2281192 - GTSE1 Q9NYZ3 VAR_024154 p.Trp525Arg LB/B rs140054 - GTSE1 Q9NYZ3 VAR_032816 p.Thr200Ala LB/B rs6008600 - GTSE1 Q9NYZ3 VAR_032817 p.Ala219Val LB/B rs34404175 - GTSE1 Q9NYZ3 VAR_032818 p.Ala293Thr LB/B rs35503220 - GTSE1 Q9NYZ3 VAR_032819 p.Ser341Asn LB/B rs6008622 - GTSE1 Q9NYZ3 VAR_032820 p.Asp482Glu LB/B rs6008684 - GTSE1 Q9NYZ3 VAR_032821 p.Ala654Thr LB/B rs16995138 - GTSE1 Q9NYZ3 VAR_056905 p.Ser322Asn LB/B rs6008622 - GTSF1L Q9H1H1 VAR_052549 p.Leu56Val LB/B rs17826038 - GUCA1A P43080 VAR_001372 p.Tyr99Cys LP/P rs104893967 Cone dystrophy 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_010648 p.Pro50Leu US rs104893968 Cone dystrophy 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_012987 p.Glu155Gly LP/P rs1768050305 Cone dystrophy 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_060802 p.Glu89Lys LP/P rs1768015203 Cone dystrophy 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_060803 p.Asp100Glu LP/P - Cone dystrophy 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_060804 p.Thr114Ile US rs771261841 - GUCA1A P43080 VAR_060806 p.Leu151Phe LP/P rs121434631 Cone dystrophy 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_060806 p.Leu151Phe LP/P rs121434631 Cone-rod dystrophy 14 (CORD14) [MIM:602093] GUCA1A P43080 VAR_060807 p.Gly159Val LP/P - Cone dystrophy 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_083669 p.Phe42Ile LP/P - Cone dystrophy 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_083670 p.Asp68Glu US - Cone dystrophy 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_083671 p.Leu80Ile US - Cone dystrophy 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_083672 p.Leu84Phe LP/P rs869320709 Cone-rod dystrophy 14 (CORD14) [MIM:602093] GUCA1A P43080 VAR_083673 p.Gly86Arg LP/P rs1768014561 Cone-rod dystrophy 14 (CORD14) [MIM:602093] GUCA1A P43080 VAR_083674 p.Tyr99Asn LP/P rs1768016404 Cone dystrophy 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_083675 p.Tyr99Ser LP/P - Cone dystrophy 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_083676 p.Asp100Gly LP/P rs1768016995 Cone-rod dystrophy 14 (CORD14) [MIM:602093] GUCA1A P43080 VAR_083678 p.Asn104Lys LP/P - Cone dystrophy 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_083679 p.Ile107Thr LP/P rs869320710 Cone-rod dystrophy 14 (CORD14) [MIM:602093] GUCA1A P43080 VAR_083680 p.Glu111Val LP/P - Cone-rod dystrophy 14 (CORD14) [MIM:602093] GUCA1A P43080 VAR_083681 p.Arg120Leu LP/P rs1582323732 Cone dystrophy 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_083682 p.Asp144Gly LP/P rs1768035083 Cone dystrophy 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_083683 p.Asp148Glu US rs1768036096 Cone dystrophy 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_083684 p.Leu176Phe US rs794727777 - GUCA1A P43080 VAR_083685 p.Gln184Arg LP/P rs149998844 Cone dystrophy 3 (COD3) [MIM:602093] GUCA1B Q9UMX6 VAR_009127 p.Glu155Asp LB/B rs139923590 - GUCA1B Q9UMX6 VAR_065355 p.Gly157Arg LP/P rs121909124 Retinitis pigmentosa 48 (RP48) [MIM:613827] GUCA1C O95843 VAR_055632 p.Val72Ile LB/B rs2715687 - GUCA1C O95843 VAR_055633 p.Met85Val LB/B rs6804162 - GUCA1C O95843 VAR_055634 p.Ala119Val LB/B rs11917716 - GUCA1C O95843 VAR_055635 p.Met159Val LB/B rs16854916 - GUCA2A Q02747 VAR_062678 p.Ser7Phe LB/B rs2071499 - GUCA2B Q16661 VAR_053362 p.Pro11Thr LB/B rs2297567 - GUCY1A1 Q02108 VAR_049257 p.Val25Ile LB/B rs2170646 - GUCY1A2 P33402 VAR_036420 p.Glu681Val US - A colorectal cancer sample GUCY1A2 P33402 VAR_036421 p.Asn685Thr US - A colorectal cancer sample GUCY1B2 O75343 VAR_022131 p.Asn316His LB/B rs1328361 - GUCY1B2 O75343 VAR_024469 p.Tyr55Cys LB/B rs9568497 - GUCY1B2 O75343 VAR_024470 p.Met128Ile LB/B rs11841997 - GUCY2C P25092 VAR_042221 p.Cys30Arg LB/B rs56142849 - GUCY2C P25092 VAR_042222 p.Gly61Arg US - A metastatic melanoma sample GUCY2C P25092 VAR_042223 p.Arg114Gln LB/B rs56275235 - GUCY2C P25092 VAR_042224 p.Arg464Leu LB/B rs55684775 - GUCY2C P25092 VAR_042225 p.Glu610Lys LB/B rs55897626 - GUCY2C P25092 VAR_042226 p.Ile859Val LB/B rs34890806 - GUCY2C P25092 VAR_042227 p.Gln1045Arg LB/B rs35617837 - GUCY2C P25092 VAR_042228 p.Tyr1072Cys LB/B rs35179392 - GUCY2C P25092 VAR_049253 p.Phe281Leu LB/B rs1420635 - GUCY2C P25092 VAR_067724 p.Ser840Ile LP/P rs587776871 Diarrhea 6 (DIAR6) [MIM:614616] GUCY2C P25092 VAR_068174 p.Asp387Gly LP/P rs587776905 Meconium ileus (MECIL) [MIM:614665] GUCY2D Q02846 VAR_003435 p.Ala52Ser US rs61749665 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_003436 p.Glu837Asp LP/P rs28933695 Cone-rod dystrophy 6 (CORD6) [MIM:601777] GUCY2D Q02846 VAR_003437 p.Arg838Cys LP/P rs61750172 Cone-rod dystrophy 6 (CORD6) [MIM:601777] GUCY2D Q02846 VAR_009129 p.Ala362Ser LP/P rs61749677 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_009130 p.Ile573Val LP/P rs61749756 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_009131 p.Phe565Ser LP/P rs61749755 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_009132 p.Pro701Ser LB/B rs34598902 - GUCY2D Q02846 VAR_009133 p.Leu782His LB/B rs8069344 - GUCY2D Q02846 VAR_009134 p.Pro858Ser LP/P rs61750176 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_009135 p.Leu954Pro LP/P rs61750182 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_015373 p.Arg838His LP/P rs61750173 Cone-rod dystrophy 6 (CORD6) [MIM:601777] GUCY2D Q02846 VAR_023770 p.Cys105Tyr LP/P rs61749669 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_023771 p.Leu325Pro LP/P rs61749675 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_042229 p.Ala328Val LB/B rs56280231 - GUCY2D Q02846 VAR_042230 p.Gly431Asp US rs1451501407 A metastatic melanoma sample GUCY2D Q02846 VAR_042231 p.Val507Met LB/B rs746002871 - GUCY2D Q02846 VAR_042232 p.Ala693Glu LB/B rs35146471 - GUCY2D Q02846 VAR_049254 p.Arg331Ser LB/B rs34596269 - GUCY2D Q02846 VAR_049255 p.Arg602Trp LB/B rs770740012 - GUCY2D Q02846 VAR_049256 p.Arg722Trp LB/B rs34331388 - GUCY2D Q02846 VAR_067168 p.Trp21Arg LB/B rs9905402 - GUCY2D Q02846 VAR_067169 p.Thr55Met LP/P rs201414567 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_067170 p.Glu103Val LP/P - Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_067171 p.Thr312Met LP/P rs61749673 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_067172 p.Leu325Arg US - - GUCY2D Q02846 VAR_067174 p.Arg438Cys LP/P rs565948960 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_067175 p.Trp640Leu LP/P - Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_067176 p.Arg660Gln LP/P rs61750162 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_067177 p.Asp728His LP/P - Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_067178 p.Ile734Ala LP/P - Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_067179 p.Arg768Trp LP/P rs61750168 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_067179 p.Arg768Trp LP/P rs61750168 Night blindness, congenital stationary, 1I (CSNB1I) [MIM:618555] GUCY2D Q02846 VAR_067180 p.Met784Arg LP/P rs375010731 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_067181 p.Arg795Gln LP/P rs61750171 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_067182 p.Ser1007Leu LP/P - Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_071605 p.Arg838Gly LP/P - Cone-rod dystrophy 6 (CORD6) [MIM:601777] GUCY2D Q02846 VAR_071606 p.Arg838Pro LP/P rs61750173 Cone-rod dystrophy 6 (CORD6) [MIM:601777] GUCY2D Q02846 VAR_071607 p.Thr849Ala LP/P - Cone-rod dystrophy 6 (CORD6) [MIM:601777] GUCY2D Q02846 VAR_071608 p.Ile949Thr LP/P rs267606857 Cone-rod dystrophy 6 (CORD6) [MIM:601777] GUCY2D Q02846 VAR_080484 p.Val933Ala US rs1567961904 Choroidal dystrophy, central areolar, 1 (CACD1) [MIM:215500] GUCY2D Q02846 VAR_082624 p.Ala710Val LP/P rs781725943 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_082625 p.Glu841Lys LP/P rs1341592819 Cone-rod dystrophy 6 (CORD6) [MIM:601777] GUCY2D Q02846 VAR_082626 p.Lys846Asn LP/P rs1598150539 Cone-rod dystrophy 6 (CORD6) [MIM:601777] GUCY2D Q02846 VAR_082627 p.Pro873Arg LP/P rs1567961680 Cone-rod dystrophy 6 (CORD6) [MIM:601777] GUCY2D Q02846 VAR_082628 p.Val902Leu LP/P rs1598150793 Leber congenital amaurosis 1 (LCA1) [MIM:204000] GUCY2F P51841 VAR_009136 p.Leu284Pro LB/B rs12008095 - GUCY2F P51841 VAR_009137 p.Arg296Gln LB/B rs502209 - GUCY2F P51841 VAR_030633 p.Tyr308Cys LB/B rs16985750 - GUCY2F P51841 VAR_030634 p.Gln380His LB/B rs2272925 - GUCY2F P51841 VAR_030635 p.Arg628Gln LB/B rs7883913 - GUCY2F P51841 VAR_036419 p.Arg10Pro US rs755991142 A breast cancer sample GUCY2F P51841 VAR_042233 p.Ser40Cys LB/B rs34228145 - GUCY2F P51841 VAR_042234 p.Ile160Asn LB/B rs33971675 - GUCY2F P51841 VAR_042235 p.Arg230Trp LB/B rs33973457 - GUCY2F P51841 VAR_042236 p.Arg305Gln LB/B rs55966326 - GUCY2F P51841 VAR_042237 p.Gly434Arg LB/B rs56293008 - GUCY2F P51841 VAR_042238 p.Gly568Asp US rs779221554 A glioblastoma multiforme sample GUCY2F P51841 VAR_042239 p.Val677Leu LB/B rs35474112 - GUCY2F P51841 VAR_042240 p.Glu794Lys LB/B rs35726803 - GUCY2F P51841 VAR_042241 p.Ala1010Val LB/B rs55735218 - GUCY2F P51841 VAR_042242 p.Lys1052Arg US - A lung adenocarcinoma sample GUCY2F P51841 VAR_042243 p.Glu1055Asp US - A lung squamous cell carcinoma sample GUCY2F P51841 VAR_069424 p.Gly872Asp LB/B rs148663380 - GUF1 Q8N442 VAR_028895 p.Leu58Pro LB/B rs6447368 - GUF1 Q8N442 VAR_028896 p.Thr329Ile LB/B rs10470742 - GUF1 Q8N442 VAR_077804 p.Ala609Ser LP/P rs879255631 Developmental and epileptic encephalopathy 40 (DEE40) [MIM:617065] GUSB P08236 VAR_003196 p.Arg216Trp LP/P rs121918174 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_003197 p.Ala354Val LP/P rs121918175 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_003198 p.Arg382Cys LP/P rs121918173 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_003199 p.Arg611Trp LP/P rs121918176 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_003200 p.Ala619Val LP/P rs121918172 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_003201 p.Trp627Cys LP/P rs121918184 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_016179 p.Leu649Pro LB/B rs9530 - GUSB P08236 VAR_037914 p.Cys38Gly LP/P rs779499448 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037915 p.Ser52Phe LP/P rs1424546265 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037916 p.Gly136Arg LP/P rs1417426295 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037917 p.Pro148Ser LP/P rs121918177 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037918 p.Glu150Lys LP/P - Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037919 p.Asp152Asn LB/B rs149606212 - GUSB P08236 VAR_037920 p.Leu176Phe LP/P rs121918181 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037921 p.Tyr320Cys LP/P - Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037922 p.Tyr320Ser LP/P rs886044680 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037923 p.Lys350Asn LP/P rs121918182 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037924 p.His351Tyr LP/P rs191153460 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037925 p.Arg374Cys LP/P rs747572640 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037926 p.Arg382His LP/P rs764018631 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037927 p.Pro408Ser LP/P rs779091113 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037928 p.Pro415Leu LP/P rs751025746 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037929 p.Arg435Pro LP/P - Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037930 p.Arg477Trp LP/P rs774393243 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037931 p.Tyr495Cys LP/P rs121918178 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037932 p.Tyr508Cys LP/P - Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037933 p.Gly572Asp LP/P - Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037934 p.Arg577Leu LP/P rs121918183 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037935 p.Lys606Asn LP/P - Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037936 p.Tyr626His LP/P rs777613366 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_055884 p.Leu376Phe LB/B rs11559283 - GUSB P08236 VAR_058511 p.Pro30Ser LP/P rs747792546 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_058512 p.Asp152Gly LP/P - Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_058513 p.Leu243Pro LP/P - Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_058514 p.Asn339Ser LP/P - Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_058516 p.Asp362Asn LP/P rs398123234 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_058517 p.Pro364Leu LP/P rs771629102 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_058518 p.Glu540Lys LP/P - Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GUSB P08236 VAR_058519 p.Gly607Ala LP/P rs1250112198 Mucopolysaccharidosis 7 (MPS7) [MIM:253220] GYG1 P46976 VAR_063768 p.Thr83Met LP/P rs267606858 Glycogen storage disease 15 (GSD15) [MIM:613507] GYG1 P46976 VAR_072706 p.Ala16Pro LP/P rs200947378 Polyglucosan body myopathy 2 (PGBM2) [MIM:616199] GYG1 P46976 VAR_072707 p.Asp102His LP/P rs143137713 Polyglucosan body myopathy 2 (PGBM2) [MIM:616199] GYG2 O15488 VAR_010401 p.Ala270Val LB/B rs2306734 - GYG2 O15488 VAR_024457 p.His313Arg LB/B rs2306735 - GYG2 O15488 VAR_031224 p.Arg373Cys LB/B rs17330993 - GYG2 O15488 VAR_053110 p.His7Tyr LB/B rs11797037 - GYG2 O15488 VAR_064717 p.Gly194Arg LB/B rs200824650 - GYPA P02724 VAR_003190 p.Ser20Leu LB/B rs7682260 - GYPA P02724 VAR_003191 p.Gly24Glu LB/B rs7687256 - GYPA P02724 VAR_058911 p.Glu13Ala LB/B rs4449373 - GYPA P02724 VAR_058912 p.Thr23Asn LB/B - - GYPA P02724 VAR_058913 p.Gly24Asp LB/B rs7658293 - GYPA P02724 VAR_058914 p.Asp46Glu LB/B - - GYPA P02724 VAR_058915 p.Thr47Lys LB/B - - GYPA P02724 VAR_058916 p.Thr47Met LB/B - - GYPA P02724 VAR_058917 p.Arg50Trp LB/B - - GYPA P02724 VAR_058918 p.Ser66Tyr LB/B rs56077914 - GYPA P02724 VAR_058919 p.Pro73Ser LB/B - - GYPA P02724 VAR_058920 p.Glu76Lys LB/B - - GYPA P02724 VAR_058921 p.Thr77Ile LB/B rs56172553 - GYPA P02724 VAR_058922 p.Gly78Arg LB/B rs1800582 - GYPA P02724 VAR_058923 p.Gln82Lys LB/B - - GYPA P02724 VAR_058924 p.Ala84Pro LB/B - - GYPA P02724 VAR_059977 p.Glu13Gly LB/B rs4449373 - GYPB P06028 VAR_003192 p.Thr48Met LB/B rs7683365 - GYPB P06028 VAR_030785 p.Ser84Thr LB/B rs1132783 - GYPB P06028 VAR_047948 p.Thr22Ser LB/B rs199937833 - GYPB P06028 VAR_047949 p.Arg54His LB/B rs370332485 - GYPB P06028 VAR_047950 p.Pro58Arg LB/B rs374811215 - GYPC P04921 VAR_003193 p.Asn8Ser LB/B rs121912760 - GYPC P04921 VAR_003194 p.Leu14Phe LB/B rs121912761 - GYPC P04921 VAR_003195 p.Ala23Ser LB/B rs774359594 - GYPC P04921 VAR_021342 p.Lys124Glu LB/B rs28370000 - GYPE P15421 VAR_053111 p.Arg78Pro LB/B rs17018900 - GYPE P15421 VAR_062006 p.Gly13Glu LB/B rs1132785 - GYS1 P13807 VAR_007859 p.Gly464Ser LB/B rs200862074 - GYS1 P13807 VAR_014727 p.Lys130Glu LB/B rs5456 - GYS1 P13807 VAR_014728 p.Asn283Ser LB/B rs5461 - GYS1 P13807 VAR_014729 p.Glu359Gly LB/B rs5465 - GYS1 P13807 VAR_014730 p.Met416Val LB/B rs5447 - GYS1 P13807 VAR_014731 p.Glu619Gln LB/B rs5450 - GYS1 P13807 VAR_014732 p.Pro691Ala LB/B rs5453 - GYS1 P13807 VAR_037958 p.Ile108Met LB/B rs5455 - GYS2 P54840 VAR_007860 p.Asn39Ser LP/P rs121918423 Glycogen storage disease 0 (GSD0) [MIM:240600] GYS2 P54840 VAR_007861 p.Ala339Pro LP/P rs121918421 Glycogen storage disease 0 (GSD0) [MIM:240600] GYS2 P54840 VAR_007862 p.His446Asp LP/P rs121918425 Glycogen storage disease 0 (GSD0) [MIM:240600] GYS2 P54840 VAR_007863 p.Pro479Gln LP/P rs121918420 Glycogen storage disease 0 (GSD0) [MIM:240600] GYS2 P54840 VAR_007864 p.Ser483Pro LP/P rs121918424 Glycogen storage disease 0 (GSD0) [MIM:240600] GYS2 P54840 VAR_007865 p.Met491Arg LP/P rs121918422 Glycogen storage disease 0 (GSD0) [MIM:240600] GYS2 P54840 VAR_055885 p.Ala193Thr LB/B rs16924038 - GYS2 P54840 VAR_055886 p.Asp415Glu LB/B rs16924002 - GYS2 P54840 VAR_058848 p.Met363Val LB/B rs2306180 - GZF1 Q9H116 VAR_024212 p.Gln275Pro LB/B rs6048760 - GZF1 Q9H116 VAR_052735 p.Asn190Ser LB/B rs3810574 - GZF1 Q9H116 VAR_052736 p.Lys318Asn LB/B rs6114068 - GZF1 Q9H116 VAR_052737 p.Asp667Asn LB/B rs6048766 - GZF1 Q9H116 VAR_059890 p.Gln275Leu LB/B rs6048760 - GZF1 Q9H116 VAR_059891 p.Gln275Arg LB/B rs6048760 - GZF1 Q9H116 VAR_064718 p.Ala97Val US - - GZMA P12544 VAR_024291 p.Met121Thr LB/B rs3104233 - GZMB P10144 VAR_018371 p.Arg55Gln LB/B rs8192917 - GZMB P10144 VAR_018381 p.Tyr247His LB/B rs2236338 - GZMB P10144 VAR_047409 p.Pro94Ala LB/B rs11539752 - GZMH P20718 VAR_014556 p.Arg84Gln LB/B rs20545 - GZMM P51124 VAR_051829 p.Arg221Gly LB/B rs1599882 - H1-1 Q02539 VAR_049301 p.Thr99Ile LB/B rs417751 - H1-1 Q02539 VAR_049302 p.Ser115Phe LB/B rs34541321 - H1-1 Q02539 VAR_049303 p.Lys140Arg LB/B rs16891235 - H1-2 P16403 VAR_003618 p.Ala18Val LB/B rs2230653 - H1-2 P16403 VAR_049304 p.Ser113Ala LB/B rs34810376 - H1-2 P16403 VAR_049305 p.Gly124Ala LB/B rs12111009 - H1-3 P16402 VAR_049306 p.Glu75Lys LB/B rs2050949 - H1-4 P10412 VAR_036203 p.Ala128Val US rs768731472 A colorectal cancer sample H1-4 P10412 VAR_049307 p.Lys152Arg LB/B rs2298090 - H1-5 P16401 VAR_036204 p.Gly86Asp US - A colorectal cancer sample H1-5 P16401 VAR_049308 p.Lys144Arg LB/B rs11970638 - H1-5 P16401 VAR_049309 p.Ala211Thr LB/B rs34144478 - H1-6 P22492 VAR_049310 p.Val14Leu LB/B rs198844 - H1-6 P22492 VAR_049311 p.Leu52Phe LB/B rs2051542 - H1-6 P22492 VAR_049312 p.Gln178Lys LB/B rs198845 - H1-7 Q75WM6 VAR_044371 p.Arg84Gly LB/B rs2732441 - H1-7 Q75WM6 VAR_044372 p.Leu108Pro LB/B rs766280749 - H1-7 Q75WM6 VAR_044373 p.Arg136Ser LB/B rs752698412 - H1-7 Q75WM6 VAR_044374 p.Arg174Gln LB/B rs1471997 - H1-7 Q75WM6 VAR_044375 p.Ser237Phe LB/B rs2291483 - H1-7 Q75WM6 VAR_047359 p.Arg195Gln LB/B rs1471997 - H1-8 Q8IZA3 VAR_061208 p.Asn296Ser LB/B rs59415528 - H2AC21 Q8IUE6 VAR_035802 p.Ala53Thr US - A breast cancer sample H2AP O75409 VAR_028810 p.Val68Ile LB/B rs6651635 - H2AZ2 Q71UI9 VAR_059312 p.Gln125Arg LB/B rs1802437 - H2BC13 Q99880 VAR_049313 p.Leu4Pro LB/B rs200484 - H2BC14 Q99879 VAR_036205 p.His110Tyr US - A colorectal cancer sample H2BC4 P62807 VAR_055887 p.Gly27Ser LB/B rs7766641 - H2BW1 Q7Z2G1 VAR_049315 p.Arg65Trp LB/B rs17332043 - H2BW1 Q7Z2G1 VAR_054318 p.His101Arg LB/B rs553509 - H3-3A P84243 VAR_079021 p.Lys28Met LP/P rs1057519903 Glioma (GLM) [MIM:137800] H3-3A P84243 VAR_079022 p.Gly35Arg LP/P rs1553260624 Glioma (GLM) [MIM:137800] H3-3A P84243 VAR_079023 p.Gly35Val LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] H3-3A P84243 VAR_079023 p.Gly35Val LP/P - Glioma (GLM) [MIM:137800] H3-3A P84243 VAR_079024 p.Gly35Trp US - - H3-3A P84243 VAR_079025 p.Lys37Met US - - H3-3A P84243 VAR_087155 p.Ala8Val US - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] H3-3A P84243 VAR_087156 p.Arg9Cys LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] H3-3A P84243 VAR_087157 p.Arg9Gly LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087158 p.Arg9Ser LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087159 p.Lys10Glu US - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] H3-3A P84243 VAR_087160 p.Ser11Pro US - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] H3-3A P84243 VAR_087161 p.Gly14Arg US - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] H3-3A P84243 VAR_087162 p.Ala16Gly US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087163 p.Arg18Gly LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087164 p.Thr23Ile US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087165 p.Thr23Lys US - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] H3-3A P84243 VAR_087166 p.Ala30Pro US - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] H3-3A P84243 VAR_087167 p.Ala30Thr US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087168 p.Ser32Phe US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087169 p.Lys37Glu LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087170 p.His40Arg US - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] H3-3A P84243 VAR_087171 p.His40Tyr US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087172 p.Arg41Cys US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087173 p.Thr46Ile LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087174 p.Leu49Arg US - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] H3-3A P84243 VAR_087175 p.Ile52Asn US - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] H3-3A P84243 VAR_087176 p.Gln56Lys US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087177 p.Leu62Arg US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087178 p.Asp78Asn US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087179 p.Asp82His US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087180 p.Arg84Cys LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087181 p.Gly91Arg LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087182 p.Asn109Ser US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087182 p.Asn109Ser US - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] H3-3A P84243 VAR_087183 p.Ile113Leu US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087184 p.Ile113Val US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087185 p.Val118Leu US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087186 p.Met121Ile LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087187 p.Met121Lys LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087188 p.Met121Val LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] H3-3A P84243 VAR_087189 p.Pro122Leu LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087190 p.Pro122Arg LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087190 p.Pro122Arg LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] H3-3A P84243 VAR_087191 p.Gln126Arg LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087191 p.Gln126Arg LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] H3-3A P84243 VAR_087192 p.Arg129Cys US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3A P84243 VAR_087193 p.Arg129His US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-5 Q6NXT2 VAR_068164 p.His39Arg LB/B rs3759295 - H3C1 P68431 VAR_079018 p.Lys28Met LP/P rs1057519904 Glioma (GLM) [MIM:137800] H3C1 P68431 VAR_079019 p.Lys37Ile US - - H3C1 P68431 VAR_079020 p.Lys37Met US - - H3C15 Q71DI3 VAR_059313 p.Met91Thr LB/B rs2664732 - H3C15 Q71DI3 VAR_059314 p.Ala128Val LB/B rs2664731 - H4C1 P62805 VAR_036206 p.Glu64Gln US rs747622981 A breast cancer sample H4C1 P62805 VAR_086990 p.Lys32Thr LP/P - Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 3 (TEBIVANED3) [MIM:619950] H4C1 P62805 VAR_086991 p.Pro33Ala LP/P - Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 1 (TEBIVANED1) [MIM:619758] H4C1 P62805 VAR_086992 p.Pro33Leu LP/P - Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 1 (TEBIVANED1) [MIM:619758] H4C1 P62805 VAR_086993 p.Pro33Arg LP/P - Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 3 (TEBIVANED3) [MIM:619950] H4C1 P62805 VAR_086994 p.Arg36Trp LP/P - Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 3 (TEBIVANED3) [MIM:619950] H4C1 P62805 VAR_086995 p.Leu38Pro LP/P - Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 3 (TEBIVANED3) [MIM:619950] H4C1 P62805 VAR_086996 p.Arg41Cys US - Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 2 (TEBIVANED2) [MIM:619759] H4C1 P62805 VAR_086996 p.Arg41Cys US - Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 3 (TEBIVANED3) [MIM:619950] H4C1 P62805 VAR_086997 p.Arg41His US - - H4C1 P62805 VAR_086998 p.Arg41Leu LP/P - Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 4 (TEBIVANED4) [MIM:619951] H4C1 P62805 VAR_086999 p.Arg46Cys LP/P - Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 3 (TEBIVANED3) [MIM:619950] H4C1 P62805 VAR_087000 p.His76Arg LP/P - Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 4 (TEBIVANED4) [MIM:619951] H4C1 P62805 VAR_087001 p.Lys92Glu LP/P - Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 2 (TEBIVANED2) [MIM:619759] H4C1 P62805 VAR_087002 p.Lys92Gln LP/P - Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 1 (TEBIVANED1) [MIM:619758] H4C1 P62805 VAR_087003 p.Lys92Arg LP/P - Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 1 (TEBIVANED1) [MIM:619758] H4C1 P62805 VAR_087004 p.Gly95Arg US - - H4C1 P62805 VAR_087005 p.Tyr99His LP/P - Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 3 (TEBIVANED3) [MIM:619950] H6PD O95479 VAR_026487 p.Arg453Gln US rs6688832 Cortisone reductase deficiency 1 (CORTRD1) [MIM:604931] H6PD O95479 VAR_049117 p.Asp151Ala LB/B rs34603401 - H6PD O95479 VAR_049118 p.Arg218Gln LB/B rs35525021 - H6PD O95479 VAR_049119 p.Asn484Asp LB/B rs35404275 - H6PD O95479 VAR_049120 p.Pro554Leu LB/B rs17368528 - H6PD O95479 VAR_069193 p.Pro146Leu LP/P - Cortisone reductase deficiency 1 (CORTRD1) [MIM:604931] H6PD O95479 VAR_083055 p.Gly359Asp LP/P rs387907167 Cortisone reductase deficiency 1 (CORTRD1) [MIM:604931] HAAO P46952 VAR_021507 p.Ile37Val LB/B rs3816183 - HAAO P46952 VAR_030470 p.Thr42Ser LB/B rs3816182 - HABP2 Q14520 VAR_023399 p.Val90Ile LB/B rs11575750 - HABP2 Q14520 VAR_023400 p.Glu393Gln LB/B rs11575688 - HABP2 Q14520 VAR_023401 p.Gly534Glu LP/P rs7080536 Thyroid cancer, non-medullary, 5 (NMTC5) [MIM:616535] HACD1 B0YJ81 VAR_046366 p.Glu64Lys LB/B rs7895850 - HACD1 B0YJ81 VAR_046367 p.Glu64Gln LB/B rs7895850 - HACD1 B0YJ81 VAR_046368 p.Val70Phe LB/B rs11254692 - HACD1 B0YJ81 VAR_046369 p.His227Tyr LB/B rs1053926 - HACD3 Q9P035 VAR_037712 p.Glu56Lys LB/B rs11632737 - HACD3 Q9P035 VAR_037713 p.Met269Leu LB/B rs2279854 - HACD4 Q5VWC8 VAR_037714 p.Thr36Ala LB/B rs2298260 - HACE1 Q8IYU2 VAR_031180 p.Arg17His LB/B rs17853353 - HACE1 Q8IYU2 VAR_031181 p.Ile374Thr LB/B rs17857038 - HADH Q16836 VAR_024079 p.Ala40Thr LP/P rs137853101 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530] HADH Q16836 VAR_024080 p.Asp57Glu LP/P rs137853102 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530] HADH Q16836 VAR_024081 p.Pro258Leu LP/P rs137853103 Hyperinsulinemic hypoglycemia, familial, 4 (HHF4) [MIM:609975] HADH Q16836 VAR_026764 p.Leu86Pro LB/B rs4956145 - HADH Q16836 VAR_055701 p.Gln152His LB/B rs1051519 - HADH Q16836 VAR_083648 p.Asp57Gly US - - HADH Q16836 VAR_083649 p.Tyr226His LB/B rs146036912 - HADHA P40939 VAR_002273 p.Glu510Gln LP/P rs137852769 Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016] HADHA P40939 VAR_002273 p.Glu510Gln LP/P rs137852769 Maternal acute fatty liver of pregnancy (AFLP) [MIM:609016] HADHA P40939 VAR_021125 p.Val282Asp LP/P rs137852773 Mitochondrial trifunctional protein deficiency 1 (MTPD1) [MIM:609015] HADHA P40939 VAR_021126 p.Ile305Asn LP/P rs137852774 Mitochondrial trifunctional protein deficiency 1 (MTPD1) [MIM:609015] HADHA P40939 VAR_021127 p.Leu342Pro LP/P rs137852772 Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016] HADHA P40939 VAR_048908 p.Gln358Lys LB/B rs2229420 - HADHB P55084 VAR_007493 p.Arg61His LP/P rs121913132 Mitochondrial trifunctional protein deficiency 2 (MTPD2) [MIM:620300] HADHB P55084 VAR_007494 p.Arg247His LP/P rs121913133 Mitochondrial trifunctional protein deficiency 2 (MTPD2) [MIM:620300] HADHB P55084 VAR_007495 p.Asp263Gly LP/P rs121913131 Mitochondrial trifunctional protein deficiency 2 (MTPD2) [MIM:620300] HADHB P55084 VAR_017409 p.Arg444Lys LP/P rs121913134 Mitochondrial trifunctional protein deficiency 2 (MTPD2) [MIM:620300] HADHB P55084 VAR_021128 p.Gly59Asp LP/P - Mitochondrial trifunctional protein deficiency 2 (MTPD2) [MIM:620300] HADHB P55084 VAR_021129 p.Arg61Cys LP/P rs780351691 Mitochondrial trifunctional protein deficiency 2 (MTPD2) [MIM:620300] HADHB P55084 VAR_021130 p.Arg117Gly LP/P - Mitochondrial trifunctional protein deficiency 2 (MTPD2) [MIM:620300] HADHB P55084 VAR_021131 p.Leu121Pro LP/P rs773127211 Mitochondrial trifunctional protein deficiency 2 (MTPD2) [MIM:620300] HADHB P55084 VAR_021132 p.Thr133Pro LP/P rs371159065 Mitochondrial trifunctional protein deficiency 2 (MTPD2) [MIM:620300] HADHB P55084 VAR_021133 p.Asp242Gly LP/P rs1166120479 Mitochondrial trifunctional protein deficiency 2 (MTPD2) [MIM:620300] HADHB P55084 VAR_021135 p.Gly280Asp LP/P rs751772298 Mitochondrial trifunctional protein deficiency 2 (MTPD2) [MIM:620300] HADHB P55084 VAR_021136 p.Pro294Leu LP/P - Mitochondrial trifunctional protein deficiency 2 (MTPD2) [MIM:620300] HADHB P55084 VAR_021137 p.Pro294Arg LP/P rs1558357879 Mitochondrial trifunctional protein deficiency 2 (MTPD2) [MIM:620300] HADHB P55084 VAR_021138 p.Gly301Ser LP/P rs891954464 Mitochondrial trifunctional protein deficiency 2 (MTPD2) [MIM:620300] HADHB P55084 VAR_028231 p.Pro209Ser LB/B rs17851200 - HADHB P55084 VAR_035705 p.Ala119Val US - A breast cancer sample HADHB P55084 VAR_061897 p.Lys277Arg LB/B rs57969630 - HAL P42357 VAR_006042 p.Val439Ile LB/B rs7297245 - HAL P42357 VAR_022915 p.Arg206Thr LP/P rs121434327 Histidinemia (HISTID) [MIM:235800] HAL P42357 VAR_022916 p.Arg208Leu LP/P rs121434328 Histidinemia (HISTID) [MIM:235800] HAL P42357 VAR_022917 p.Pro259Leu LP/P rs121434329 Histidinemia (HISTID) [MIM:235800] HAL P42357 VAR_022918 p.Arg322Pro LP/P rs121434330 Histidinemia (HISTID) [MIM:235800] HAMP P81172 VAR_026648 p.Gly71Asp LP/P rs104894696 Hemochromatosis 2B (HFE2B) [MIM:613313] HAMP P81172 VAR_042512 p.Arg59Gly LP/P rs779021719 Hemochromatosis 2B (HFE2B) [MIM:613313] HAMP P81172 VAR_042513 p.Cys70Arg LP/P rs1374259518 Hemochromatosis 2B (HFE2B) [MIM:613313] HAMP P81172 VAR_042514 p.Cys78Tyr LP/P rs1462013476 Hemochromatosis 2B (HFE2B) [MIM:613313] HAO2 Q9NYQ3 VAR_049087 p.Glu15Lys LB/B rs34638261 - HAO2 Q9NYQ3 VAR_049088 p.Leu221Met LB/B rs6661625 - HAP1 P54257 VAR_046736 p.Lys4Arg LB/B rs4796604 - HAP1 P54257 VAR_046737 p.Ser58Thr LB/B rs4796603 - HAP1 P54257 VAR_046738 p.Ser357Leu LB/B rs4796693 - HAP1 P54257 VAR_046739 p.Arg437Trp LB/B rs11867808 - HAP1 P54257 VAR_046741 p.Phe483Leu LB/B rs8075017 - HAP1 P54257 VAR_046742 p.Ala488Val LB/B rs34853043 - HAP1 P54257 VAR_056906 p.Leu408Phe LB/B rs35612698 - HAP1 P54257 VAR_056907 p.Thr493Met LB/B rs4523977 - HAP1 P54257 VAR_056908 p.Ala557Val LB/B rs34853043 - HAP1 P54257 VAR_056909 p.Gly656Arg LB/B rs34044330 - HAP1 P54257 VAR_062817 p.Phe560Leu LB/B rs8075017 - HAPLN1 P10915 VAR_036168 p.Arg333His US - A colorectal cancer sample HAPLN1 P10915 VAR_049316 p.Asn281Ser LB/B rs6864342 - HAPSTR1 Q14CZ0 VAR_034657 p.Asn221Ser LB/B rs34869458 - HARS1 P12081 VAR_061908 p.Ala399Val LB/B rs34732372 - HARS1 P12081 VAR_067918 p.Tyr454Ser US rs387906639 Usher syndrome 3B (USH3B) [MIM:614504] HARS1 P12081 VAR_069021 p.Ala5Glu LB/B rs78741041 - HARS1 P12081 VAR_069022 p.Arg137Gln LP/P rs191391414 Charcot-Marie-Tooth disease, axonal, 2W (CMT2W) [MIM:616625] HARS1 P12081 VAR_069023 p.Gly205Asp LB/B rs147288996 - HARS1 P12081 VAR_069024 p.Val238Ala US rs536175170 Charcot-Marie-Tooth disease, axonal, 2W (CMT2W) [MIM:616625] HARS1 P12081 VAR_069025 p.Lys376Arg LB/B rs139447495 - HARS1 P12081 VAR_069026 p.Pro505Ser US rs747156884 Charcot-Marie-Tooth disease, axonal, 2W (CMT2W) [MIM:616625] HARS1 P12081 VAR_075064 p.Thr132Ile LP/P rs143473232 Charcot-Marie-Tooth disease, axonal, 2W (CMT2W) [MIM:616625] HARS1 P12081 VAR_075065 p.Pro134His LP/P rs863225122 Charcot-Marie-Tooth disease, axonal, 2W (CMT2W) [MIM:616625] HARS1 P12081 VAR_075066 p.Asp175Glu LP/P rs863225123 Charcot-Marie-Tooth disease, axonal, 2W (CMT2W) [MIM:616625] HARS1 P12081 VAR_075067 p.Asp364Tyr LP/P rs863225124 Charcot-Marie-Tooth disease, axonal, 2W (CMT2W) [MIM:616625] HARS1 P12081 VAR_083003 p.Val155Gly US rs1239341211 Charcot-Marie-Tooth disease, axonal, 2W (CMT2W) [MIM:616625] HARS1 P12081 VAR_083004 p.Tyr330Cys LP/P rs1554106881 Charcot-Marie-Tooth disease, axonal, 2W (CMT2W) [MIM:616625] HARS1 P12081 VAR_083005 p.Ser356Asn US rs144322728 Charcot-Marie-Tooth disease, axonal, 2W (CMT2W) [MIM:616625] HARS2 P49590 VAR_069532 p.Leu200Val LP/P rs397515410 Perrault syndrome 2 (PRLTS2) [MIM:614926] HARS2 P49590 VAR_069533 p.Val368Leu LP/P rs376177973 Perrault syndrome 2 (PRLTS2) [MIM:614926] HARS2 P49590 VAR_083046 p.Leu46Gln US - Perrault syndrome 2 (PRLTS2) [MIM:614926] HARS2 P49590 VAR_083047 p.Lys58Glu US - Perrault syndrome 2 (PRLTS2) [MIM:614926] HARS2 P49590 VAR_083048 p.Arg87Lys US - Perrault syndrome 2 (PRLTS2) [MIM:614926] HARS2 P49590 VAR_083049 p.Arg150Cys US - Perrault syndrome 2 (PRLTS2) [MIM:614926] HARS2 P49590 VAR_083050 p.Arg327Gln US - Perrault syndrome 2 (PRLTS2) [MIM:614926] HAS1 Q92839 VAR_047025 p.Cys14Arg LB/B rs7248778 - HAS3 O00219 VAR_049317 p.Arg173His LB/B rs2232229 - HASPIN Q8TF76 VAR_027405 p.Gly204Asp LB/B rs220462 - HASPIN Q8TF76 VAR_027406 p.Ile328Thr LB/B rs220461 - HASPIN Q8TF76 VAR_027407 p.Val378Ala LB/B rs3809806 - HASPIN Q8TF76 VAR_027408 p.Asn422Asp LB/B rs7223226 - HASPIN Q8TF76 VAR_040540 p.Val76Glu LB/B rs11653889 - HASPIN Q8TF76 VAR_040541 p.Arg82Cys LB/B rs9907144 - HASPIN Q8TF76 VAR_040542 p.Arg145His LB/B rs55991903 - HASPIN Q8TF76 VAR_040543 p.Gly283Ser LB/B rs56224301 - HASPIN Q8TF76 VAR_040544 p.Gln301Leu LB/B rs55649477 - HASPIN Q8TF76 VAR_040545 p.Met706Val LB/B rs56134695 - HAT1 O14929 VAR_035997 p.Ala317Pro US - A colorectal cancer sample HAUS2 Q9NVX0 VAR_050793 p.Thr76Pro LB/B rs34678957 - HAUS3 Q68CZ6 VAR_034912 p.Ile586Thr LB/B rs11937432 - HAUS5 O94927 VAR_034038 p.Pro213Leu LB/B rs2301596 - HAUS5 O94927 VAR_034039 p.Ala277Asp LB/B rs2285412 - HAUS6 Q7Z4H7 VAR_024926 p.His674Gln LB/B rs10511670 - HAUS6 Q7Z4H7 VAR_024927 p.Ser761Ile LB/B rs4977493 - HAUS6 Q7Z4H7 VAR_062243 p.Ser552Thr LB/B rs41269003 - HAUS8 Q9BT25 VAR_039056 p.Gly83Arg LB/B rs1130222 - HAVCR1 Q96D42 VAR_056080 p.Ser51Leu LB/B rs2270922 - HAVCR2 Q8TDQ0 VAR_025342 p.Arg140Leu LB/B rs1036199 - HAVCR2 Q8TDQ0 VAR_082211 p.Tyr82Cys LP/P rs184868814 T-cell lymphoma, subcutaneous panniculitis-like (SPTCL) [MIM:618398] HAVCR2 Q8TDQ0 VAR_082212 p.Ile97Met US rs35960726 T-cell lymphoma, subcutaneous panniculitis-like (SPTCL) [MIM:618398] HAVCR2 Q8TDQ0 VAR_082213 p.Thr101Ile US rs147827860 T-cell lymphoma, subcutaneous panniculitis-like (SPTCL) [MIM:618398] HAX1 O00165 VAR_062258 p.Pro49Ser LB/B rs11556344 - HAX1 O00165 VAR_062259 p.Phe141Leu LP/P rs179363870 Neutropenia, severe congenital 3, autosomal recessive (SCN3) [MIM:610738] HAX1 O00165 VAR_062260 p.Ser151Gly LB/B rs17851425 - HAX1 O00165 VAR_062261 p.Ser278Pro LB/B rs1804715 - HAX1 O00165 VAR_064514 p.Leu130Arg LP/P rs179363871 Neutropenia, severe congenital 3, autosomal recessive (SCN3) [MIM:610738] HAX1 O00165 VAR_064515 p.Val172Ile LP/P rs141970914 Neutropenia, severe congenital 3, autosomal recessive (SCN3) [MIM:610738] HBA1 P69905 VAR_002719 p.Val2Glu LB/B rs33981821 - HBA1 P69905 VAR_002720 p.Leu3Arg LB/B rs36030576 - HBA1 P69905 VAR_002721 p.Ala6Asp LB/B rs34090856 - HBA1 P69905 VAR_002722 p.Ala6Pro LB/B rs34751764 - HBA1 P69905 VAR_002723 p.Asp7Ala LB/B rs33986902 - HBA1 P69905 VAR_002724 p.Asp7Gly LB/B rs281864805 - HBA1 P69905 VAR_002725 p.Asp7Asn LB/B rs33961916 - HBA1 P69905 VAR_002726 p.Asp7Val LB/B rs281864805 - HBA1 P69905 VAR_002727 p.Asp7Tyr LB/B rs281864806 - HBA1 P69905 VAR_002728 p.Lys8Glu LB/B rs34817956 - HBA1 P69905 VAR_002729 p.Lys12Glu LB/B rs33938574 - HBA1 P69905 VAR_002730 p.Ala13Asp LB/B rs35615982 - HBA1 P69905 VAR_002731 p.Trp15Arg LB/B rs33964317 - HBA1 P69905 VAR_002732 p.Gly16Arg LB/B rs35816645 - HBA1 P69905 VAR_002733 p.Lys17Met LB/B rs35210126 - HBA1 P69905 VAR_002734 p.Lys17Asn LB/B rs281860648 - HBA1 P69905 VAR_002735 p.Gly19Asp LB/B rs35993097 - HBA1 P69905 VAR_002736 p.Gly19Arg LB/B rs34504387 - HBA1 P69905 VAR_002737 p.Ala20Asp US - - HBA1 P69905 VAR_002738 p.Ala20Glu LB/B rs35628685 - HBA1 P69905 VAR_002739 p.His21Gln LB/B rs41525149 - HBA1 P69905 VAR_002740 p.His21Arg LB/B rs33943087 - HBA1 P69905 VAR_002741 p.Ala22Asp LB/B rs11548605 - HBA1 P69905 VAR_002742 p.Ala22Pro LB/B rs34324664 - HBA1 P69905 VAR_002743 p.Gly23Asp LB/B rs34608326 - HBA1 P69905 VAR_002744 p.Glu24Gly LB/B rs33939421 - HBA1 P69905 VAR_002745 p.Glu24Lys LB/B rs281864819 - HBA1 P69905 VAR_002746 p.Tyr25His LB/B rs281864821 - HBA1 P69905 VAR_002747 p.Ala27Glu LB/B rs281864822 - HBA1 P69905 VAR_002748 p.Glu28Asp LB/B rs281865556 - HBA1 P69905 VAR_002749 p.Glu28Gly LB/B rs281864823 - HBA1 P69905 VAR_002750 p.Glu28Val LB/B rs281864823 - HBA1 P69905 VAR_002751 p.Glu31Lys LB/B rs111033605 - HBA1 P69905 VAR_002752 p.Arg32Ser LB/B rs111033606 - HBA1 P69905 VAR_002753 p.Leu35Arg LB/B rs281864825 - HBA1 P69905 VAR_002754 p.Pro38Arg LB/B rs281864826 - HBA1 P69905 VAR_002756 p.Lys41Met LB/B rs281864828 - HBA1 P69905 VAR_002757 p.Thr42Ser LB/B rs281860623 - HBA1 P69905 VAR_002758 p.Phe44Leu LB/B rs41491146 - HBA1 P69905 VAR_002759 p.Pro45Leu LB/B rs33978134 - HBA1 P69905 VAR_002760 p.Pro45Arg LB/B rs281864830 - HBA1 P69905 VAR_002761 p.His46Gln LB/B rs281860624 - HBA1 P69905 VAR_002762 p.His46Arg LB/B rs281864831 - HBA1 P69905 VAR_002763 p.Asp48Ala LB/B rs281864833 - HBA1 P69905 VAR_002764 p.Asp48Gly LB/B rs281864833 - HBA1 P69905 VAR_002765 p.Asp48His LB/B rs281864834 - HBA1 P69905 VAR_002766 p.Asp48Tyr LB/B rs281864834 - HBA1 P69905 VAR_002767 p.Leu49Arg LB/B rs41392146 - HBA1 P69905 VAR_002768 p.Ser50Arg LB/B rs41518249 - HBA1 P69905 VAR_002769 p.His51Arg LB/B rs281864835 - HBA1 P69905 VAR_002770 p.Gly52Asp LB/B rs281864836 - HBA1 P69905 VAR_002771 p.Gly52Arg LB/B rs281864837 - HBA1 P69905 VAR_002772 p.Ala54Asp LB/B rs281864838 - HBA1 P69905 VAR_002773 p.Gln55Arg LB/B rs281864839 - HBA1 P69905 VAR_002774 p.Lys57Arg LB/B rs281864841 - HBA1 P69905 VAR_002775 p.Lys57Thr LB/B rs281864841 - HBA1 P69905 VAR_002776 p.Gly58Arg LB/B rs281864843 - HBA1 P69905 VAR_002777 p.His59Tyr LB/B rs281864845 - HBA1 P69905 VAR_002778 p.Gly60Asp LB/B rs28928878 - HBA1 P69905 VAR_002779 p.Gly60Val LB/B rs281864846 - HBA1 P69905 VAR_002780 p.Lys61Asn LB/B rs281860659 - HBA1 P69905 VAR_002782 p.Lys62Asn LB/B rs33985574 - HBA1 P69905 VAR_002783 p.Lys62Thr LB/B rs281865558 - HBA1 P69905 VAR_002784 p.Val63Met LB/B rs41515649 - HBA1 P69905 VAR_002785 p.Ala64Asp LB/B rs34502246 - HBA1 P69905 VAR_002786 p.Asp65Tyr LB/B rs33984024 - HBA1 P69905 VAR_002787 p.Asn69Lys LB/B rs1060339 - HBA1 P69905 VAR_002788 p.Ala72Glu LB/B rs281864853 - HBA1 P69905 VAR_002789 p.Ala72Val LB/B rs281864853 - HBA1 P69905 VAR_002790 p.His73Arg LB/B rs281864854 - HBA1 P69905 VAR_002791 p.Asp75Ala LB/B rs281864856 - HBA1 P69905 VAR_002792 p.Asp75Gly LB/B rs33921047 - HBA1 P69905 VAR_002793 p.Asp75Asn LB/B rs281864857 - HBA1 P69905 VAR_002794 p.Asp76Ala LB/B rs33991223 - HBA1 P69905 VAR_002795 p.Asp76His LB/B rs281864858 - HBA1 P69905 VAR_002796 p.Met77Lys LB/B rs33969953 - HBA1 P69905 VAR_002797 p.Met77Thr LB/B rs33969953 - HBA1 P69905 VAR_002798 p.Pro78Arg LB/B rs281864861 - HBA1 P69905 VAR_002799 p.Asn79His LB/B rs111033602 - HBA1 P69905 VAR_002800 p.Asn79Lys LB/B rs281860607 - HBA1 P69905 VAR_002801 p.Leu81Arg LB/B rs281864863 - HBA1 P69905 VAR_002802 p.Ser82Cys LB/B rs281864864 - HBA1 P69905 VAR_002803 p.Ala83Asp LB/B rs281864865 - HBA1 P69905 VAR_002804 p.Ser85Arg LB/B rs281860612 - HBA1 P69905 VAR_002805 p.Asp86Val LB/B rs41331747 - HBA1 P69905 VAR_002806 p.Asp86Tyr LB/B rs281864777 - HBA1 P69905 VAR_002807 p.Leu87Arg LB/B rs281864866 - HBA1 P69905 VAR_002808 p.His88Asn LB/B rs281864868 - HBA1 P69905 VAR_002809 p.His88Arg LB/B rs281864867 - HBA1 P69905 VAR_002810 p.Ala89Ser LB/B rs35239527 - HBA1 P69905 VAR_002811 p.Lys91Met LB/B rs281864873 - HBA1 P69905 VAR_002812 p.Leu92Pro LB/B rs281864874 - HBA1 P69905 VAR_002813 p.Arg93Gln LB/B rs281864875 - HBA1 P69905 VAR_002814 p.Asp95Tyr LB/B rs281864878 - HBA1 P69905 VAR_002815 p.Pro96Ala LB/B rs281864881 - HBA1 P69905 VAR_002816 p.Pro96Thr LB/B rs281864881 - HBA1 P69905 VAR_002817 p.Asn98Lys LB/B rs41338947 - HBA1 P69905 VAR_002818 p.Lys100Glu LB/B rs281864882 - HBA1 P69905 VAR_002819 p.Ser103Arg LB/B rs41344646 - HBA1 P69905 VAR_002820 p.His104Arg LB/B rs63750752 - HBA1 P69905 VAR_002821 p.Leu110Arg LB/B rs41479844 - HBA1 P69905 VAR_002822 p.Ala111Asp LB/B rs28928889 - HBA1 P69905 VAR_002823 p.His113Asp LB/B rs281864885 - HBA1 P69905 VAR_002824 p.Leu114His LB/B rs281860618 - HBA1 P69905 VAR_002825 p.Pro115Leu LB/B rs267607269 - HBA1 P69905 VAR_002826 p.Pro115Arg LB/B rs267607269 - HBA1 P69905 VAR_002827 p.Pro115Ser LB/B rs281864887 - HBA1 P69905 VAR_002828 p.Ala116Asp LB/B rs281864888 - HBA1 P69905 VAR_002829 p.Glu117Ala LB/B rs281864946 - HBA1 P69905 VAR_002833 p.Ala121Glu LB/B rs36075744 - HBA1 P69905 VAR_002834 p.Val122Met LB/B rs35187567 - HBA1 P69905 VAR_002835 p.His123Gln LB/B rs41479347 - HBA1 P69905 VAR_002836 p.Leu126Pro LB/B rs41397847 - HBA1 P69905 VAR_002837 p.Asp127Val LB/B rs33957766 - HBA1 P69905 VAR_002838 p.Asp127Tyr LB/B rs33933481 - HBA1 P69905 VAR_002839 p.Lys128Asn LB/B rs33972894 - HBA1 P69905 VAR_002840 p.Leu130Pro LB/B rs281864889 - HBA1 P69905 VAR_002841 p.Ala131Pro LB/B rs41529844 - HBA1 P69905 VAR_002842 p.Ala131Asp LB/B rs41528545 - HBA1 P69905 VAR_002843 p.Ser132Pro LB/B rs63751417 - HBA1 P69905 VAR_002844 p.Ser134Arg LB/B rs56308100 - HBA1 P69905 VAR_002845 p.Val136Glu LB/B rs63749809 - HBA1 P69905 VAR_002846 p.Leu137Met LB/B rs41364652 - HBA1 P69905 VAR_002847 p.Leu137Pro LB/B rs41469945 - HBA1 P69905 VAR_002848 p.Ser139Pro LB/B rs63750801 - HBA1 P69905 VAR_002849 p.Lys140Glu LB/B rs41361546 - HBA1 P69905 VAR_002850 p.Lys140Thr LB/B rs56348461 - HBA1 P69905 VAR_002851 p.Tyr141His LB/B rs55870409 - HBA1 P69905 VAR_002852 p.Arg142Cys LB/B rs63750134 - HBA1 P69905 VAR_002853 p.Arg142Leu LB/B rs33935328 - HBA1 P69905 VAR_002854 p.Arg142His LB/B rs33935328 - HBA1 P69905 VAR_002855 p.Arg142Pro LB/B rs33935328 - HBA1 P69905 VAR_012662 p.Ala80Gly LB/B rs281860603 - HBA1 P69905 VAR_020775 p.Arg93Trp LB/B rs281864876 - HBA1 P69905 VAR_025002 p.Arg32Lys LB/B rs281864543 - HBA1 P69905 VAR_025387 p.Ala27Val LB/B rs281864822 - HBA1 P69905 VAR_025388 p.His59Gln LB/B rs41378349 - HBA1 P69905 VAR_025389 p.Asp95Ala LB/B rs281864879 - HBA1 P69905 VAR_025390 p.His104Tyr LB/B rs63750073 - HBA1 P69905 VAR_025391 p.Leu126Arg LB/B rs41397847 - HBA1 P69905 VAR_025392 p.Asp127Gly LB/B rs33957766 - HBA1 P69905 VAR_035242 p.Leu137Arg LB/B rs41469945 - HBA1 P69905 VAR_038149 p.Asn10Thr LB/B rs281860608 - HBA1 P69905 VAR_038150 p.Ala14Pro LB/B rs35331909 - HBA1 P69905 VAR_049272 p.Leu92Phe LB/B rs281864494 - HBB P68871 VAR_002856 p.Val2Ala LB/B rs33949930 - HBB P68871 VAR_002857 p.His3Leu LB/B rs33983205 - HBB P68871 VAR_002858 p.His3Gln LB/B rs713040 - HBB P68871 VAR_002859 p.His3Arg LB/B rs33983205 - HBB P68871 VAR_002860 p.His3Tyr LB/B rs35906307 - HBB P68871 VAR_002861 p.Pro6Arg LB/B rs34769005 - HBB P68871 VAR_002862 p.Glu7Ala LB/B rs334 - HBB P68871 VAR_002863 p.Glu7Val LP/P rs334 Sickle cell disease (SKCA) [MIM:603903] HBB P68871 VAR_002864 p.Glu7Lys LB/B rs33930165 - HBB P68871 VAR_002865 p.Glu7Gln LB/B rs33930165 - HBB P68871 VAR_002866 p.Glu8Gly LB/B rs34387455 - HBB P68871 VAR_002867 p.Glu8Lys LB/B rs34948328 - HBB P68871 VAR_002868 p.Lys9Glu LB/B rs33926764 - HBB P68871 VAR_002869 p.Lys9Gln LB/B rs33926764 - HBB P68871 VAR_002870 p.Lys9Thr LB/B rs33932981 - HBB P68871 VAR_002871 p.Ser10Cys LB/B rs33918131 - HBB P68871 VAR_002872 p.Ala11Asp LB/B rs33947457 - HBB P68871 VAR_002873 p.Val12Asp LB/B rs35140348 - HBB P68871 VAR_002874 p.Val12Ile LB/B rs33974228 - HBB P68871 VAR_002875 p.Ala14Asp LB/B rs35203747 - HBB P68871 VAR_002876 p.Leu15Pro LB/B rs33935445 - HBB P68871 VAR_002877 p.Leu15Arg LB/B rs33935445 - HBB P68871 VAR_002878 p.Trp16Gly LB/B rs33946157 - HBB P68871 VAR_002879 p.Trp16Arg LB/B rs33946157 - HBB P68871 VAR_002880 p.Gly17Asp LB/B rs33962676 - HBB P68871 VAR_002881 p.Gly17Arg LB/B rs63751285 - HBB P68871 VAR_002882 p.Lys18Glu LB/B rs33986703 - HBB P68871 VAR_002883 p.Lys18Asn LB/B rs36006214 - HBB P68871 VAR_002884 p.Lys18Gln LB/B rs33986703 - HBB P68871 VAR_002885 p.Val19Met LB/B rs35802118 - HBB P68871 VAR_002886 p.Asn20Asp LB/B rs34866629 - HBB P68871 VAR_002887 p.Asn20Lys LB/B rs63750840 - HBB P68871 VAR_002888 p.Asn20Ser LB/B rs33972047 - HBB P68871 VAR_002889 p.Val21Met LB/B rs35890959 - HBB P68871 VAR_002890 p.Asp22Gly LB/B rs33977536 - HBB P68871 VAR_002891 p.Asp22Asn LB/B rs33950093 - HBB P68871 VAR_002892 p.Asp22His LB/B rs33950093 - HBB P68871 VAR_002893 p.Asp22Tyr LB/B rs33950093 - HBB P68871 VAR_002894 p.Glu23Ala LB/B rs33936254 - HBB P68871 VAR_002895 p.Glu23Gly LB/B rs33936254 - HBB P68871 VAR_002896 p.Glu23Lys LB/B rs33959855 - HBB P68871 VAR_002897 p.Glu23Gln LB/B rs33959855 - HBB P68871 VAR_002898 p.Glu23Val LB/B rs33936254 - HBB P68871 VAR_002899 p.Val24Asp LB/B rs33945546 - HBB P68871 VAR_002900 p.Val24Phe LB/B rs33929459 - HBB P68871 VAR_002901 p.Val24Gly LB/B rs33945546 - HBB P68871 VAR_002902 p.Gly25Asp LB/B rs33968721 - HBB P68871 VAR_002903 p.Gly25Arg LB/B rs33972975 - HBB P68871 VAR_002904 p.Gly25Val LB/B rs33968721 - HBB P68871 VAR_002905 p.Gly26Asp LB/B rs35474880 - HBB P68871 VAR_002906 p.Gly26Arg LB/B rs34404985 - HBB P68871 VAR_002907 p.Glu27Lys LP/P rs33950507 Beta-thalassemia (B-THAL) [MIM:613985] HBB P68871 VAR_002908 p.Glu27Val LB/B rs33915112 - HBB P68871 VAR_002909 p.Ala28Asp LB/B rs33954632 - HBB P68871 VAR_002910 p.Ala28Ser LB/B rs35424040 - HBB P68871 VAR_002911 p.Ala28Val LB/B rs33954632 - HBB P68871 VAR_002912 p.Leu29Pro LB/B rs33916412 - HBB P68871 VAR_002913 p.Gly30Asp LB/B rs35685286 - HBB P68871 VAR_002914 p.Arg31Ser LB/B rs1135071 - HBB P68871 VAR_002915 p.Leu32Pro LB/B rs33920173 - HBB P68871 VAR_002916 p.Leu33Arg LB/B rs33948578 - HBB P68871 VAR_002917 p.Leu33Val LB/B rs34314652 - HBB P68871 VAR_002918 p.Val35Phe LB/B rs1141387 - HBB P68871 VAR_002919 p.Tyr36Phe LB/B rs35857380 - HBB P68871 VAR_002920 p.Pro37Arg LB/B rs33993004 - HBB P68871 VAR_002921 p.Pro37Ser LB/B rs33948615 - HBB P68871 VAR_002922 p.Pro37Thr LB/B rs33948615 - HBB P68871 VAR_002923 p.Trp38Gly LB/B rs33994623 - HBB P68871 VAR_002924 p.Trp38Ser LB/B rs33991059 - HBB P68871 VAR_002925 p.Trp38Arg LB/B rs33994623 - HBB P68871 VAR_002926 p.Thr39Asn LB/B rs34703513 - HBB P68871 VAR_002927 p.Gln40Glu LB/B rs11549407 - HBB P68871 VAR_002928 p.Gln40Lys LB/B rs11549407 - HBB P68871 VAR_002929 p.Gln40Arg LB/B rs35973315 - HBB P68871 VAR_002930 p.Phe42Tyr LB/B rs33926796 - HBB P68871 VAR_002931 p.Phe43Leu LB/B rs33924146 - HBB P68871 VAR_002932 p.Glu44Gln LB/B rs33922842 - HBB P68871 VAR_002933 p.Ser45Cys LB/B rs34868397 - HBB P68871 VAR_002934 p.Phe46Ser LB/B rs33978338 - HBB P68871 VAR_002935 p.Gly47Glu LB/B rs35303218 - HBB P68871 VAR_002936 p.Asp48Ala LB/B rs33980484 - HBB P68871 VAR_002937 p.Asp48Gly LB/B rs33980484 - HBB P68871 VAR_002938 p.Asp48Tyr LB/B rs33932070 - HBB P68871 VAR_002939 p.Leu49Pro LB/B rs33952850 - HBB P68871 VAR_002940 p.Ser50Phe LB/B rs33960931 - HBB P68871 VAR_002941 p.Thr51Lys US - - HBB P68871 VAR_002942 p.Pro52Arg LB/B rs33969727 - HBB P68871 VAR_002943 p.Asp53Ala LB/B rs33919924 - HBB P68871 VAR_002944 p.Asp53His LB/B rs33961886 - HBB P68871 VAR_002945 p.Val55Asp LB/B rs34037627 - HBB P68871 VAR_002946 p.Met56Lys LB/B rs35094013 - HBB P68871 VAR_002947 p.Gly57Arg LB/B rs33935983 - HBB P68871 VAR_002948 p.Asn58Lys LB/B rs35278874 - HBB P68871 VAR_002949 p.Pro59Arg LB/B rs33991472 - HBB P68871 VAR_002950 p.Lys60Glu LB/B rs33969400 - HBB P68871 VAR_002951 p.Val61Ala LB/B rs33931779 - HBB P68871 VAR_002952 p.Lys62Glu LB/B rs33995148 - HBB P68871 VAR_002953 p.Lys62Met LB/B rs34974709 - HBB P68871 VAR_002954 p.Lys62Asn LB/B rs34446260 - HBB P68871 VAR_002955 p.Ala63Asp LB/B rs34151786 - HBB P68871 VAR_002956 p.Ala63Pro LB/B rs34933455 - HBB P68871 VAR_002957 p.His64Tyr LB/B rs33922873 - HBB P68871 VAR_002958 p.Lys66Met LB/B rs33932548 - HBB P68871 VAR_002959 p.Lys66Asn LB/B rs35747961 - HBB P68871 VAR_002960 p.Lys66Gln LB/B rs35353749 - HBB P68871 VAR_002961 p.Lys67Thr LB/B rs35939489 - HBB P68871 VAR_002962 p.Val68Ala LB/B rs33918343 - HBB P68871 VAR_002963 p.Val68Met LB/B rs36008922 - HBB P68871 VAR_002964 p.Leu69His LB/B rs33972593 - HBB P68871 VAR_002965 p.Leu69Pro LB/B rs33972593 - HBB P68871 VAR_002966 p.Gly70Asp LB/B rs34718174 - HBB P68871 VAR_002967 p.Gly70Arg LB/B rs33947415 - HBB P68871 VAR_002968 p.Gly70Ser LB/B rs33947415 - HBB P68871 VAR_002969 p.Ala71Asp LB/B rs33946401 - HBB P68871 VAR_002970 p.Phe72Ser LB/B rs34362537 - HBB P68871 VAR_002971 p.Asp74Gly LB/B rs33967755 - HBB P68871 VAR_002972 p.Asp74Val LB/B rs33967755 - HBB P68871 VAR_002973 p.Asp74Tyr LB/B rs33945705 - HBB P68871 VAR_002974 p.Gly75Arg LB/B rs33916541 - HBB P68871 VAR_002975 p.Gly75Val LB/B rs33976006 - HBB P68871 VAR_002976 p.Leu76Pro LB/B rs33950542 - HBB P68871 VAR_002977 p.Leu76Arg LB/B rs33950542 - HBB P68871 VAR_002978 p.Ala77Asp LB/B rs33985847 - HBB P68871 VAR_002979 p.His78Asp LB/B rs33991294 - HBB P68871 VAR_002980 p.His78Arg LB/B rs33952543 - HBB P68871 VAR_002981 p.His78Tyr LB/B rs33991294 - HBB P68871 VAR_002982 p.Leu79Arg LB/B rs34870172 - HBB P68871 VAR_002983 p.Asp80Tyr LB/B rs33990858 - HBB P68871 VAR_002984 p.Asn81Lys LB/B rs35890380 - HBB P68871 VAR_002985 p.Leu82Arg LB/B rs33936967 - HBB P68871 VAR_002986 p.Lys83Met LB/B rs33987903 - HBB P68871 VAR_002987 p.Gly84Arg LB/B rs33930385 - HBB P68871 VAR_002988 p.Thr85Ile LB/B rs35914488 - HBB P68871 VAR_002989 p.Ala87Asp LB/B rs35819837 - HBB P68871 VAR_002990 p.Thr88Ile LB/B rs33993568 - HBB P68871 VAR_002991 p.Thr88Lys LB/B rs33993568 - HBB P68871 VAR_002992 p.Thr88Pro LB/B rs35553496 - HBB P68871 VAR_002993 p.Leu89Pro LB/B rs33940204 - HBB P68871 VAR_002994 p.Leu89Arg LB/B rs33940204 - HBB P68871 VAR_002995 p.Ser90Asn LB/B rs33917628 - HBB P68871 VAR_002996 p.Ser90Arg LB/B rs35351128 - HBB P68871 VAR_002997 p.Glu91Asp LB/B rs35002698 - HBB P68871 VAR_002998 p.Glu91Lys LB/B rs33913712 - HBB P68871 VAR_002999 p.Leu92Pro LB/B rs33917785 - HBB P68871 VAR_003000 p.Leu92Arg LB/B rs33917785 - HBB P68871 VAR_003001 p.His93Asp LB/B rs33924775 - HBB P68871 VAR_003002 p.His93Asn LB/B rs33924775 - HBB P68871 VAR_003003 p.His93Pro LB/B rs33974325 - HBB P68871 VAR_003004 p.His93Gln LB/B rs34083951 - HBB P68871 VAR_003005 p.Cys94Arg LB/B rs33972927 - HBB P68871 VAR_003006 p.Asp95Gly LB/B rs34579351 - HBB P68871 VAR_003007 p.Asp95His LB/B rs33959340 - HBB P68871 VAR_003008 p.Asp95Asn LB/B rs33959340 - HBB P68871 VAR_003009 p.Lys96Met LB/B rs35204496 - HBB P68871 VAR_003010 p.Lys96Asn LB/B rs36038739 - HBB P68871 VAR_003011 p.Leu97Pro LB/B rs36081208 - HBB P68871 VAR_003012 p.Leu97Val LB/B rs34665886 - HBB P68871 VAR_003013 p.His98Leu LB/B rs33951978 - HBB P68871 VAR_003014 p.His98Pro LB/B rs33951978 - HBB P68871 VAR_003015 p.His98Gln LB/B rs34515413 - HBB P68871 VAR_003016 p.His98Tyr LB/B rs33950993 - HBB P68871 VAR_003017 p.Val99Gly LB/B rs33985510 - HBB P68871 VAR_003018 p.Asp100Glu LB/B rs34013622 - HBB P68871 VAR_003019 p.Pro101Leu LB/B rs33965000 - HBB P68871 VAR_003020 p.Pro101Arg LB/B rs33965000 - HBB P68871 VAR_003021 p.Glu102Asp LB/B rs35209591 - HBB P68871 VAR_003022 p.Glu102Gly LB/B rs33937393 - HBB P68871 VAR_003023 p.Glu102Lys LB/B rs33966487 - HBB P68871 VAR_003024 p.Glu102Gln LB/B rs33966487 - HBB P68871 VAR_003025 p.Asn103Ser LB/B rs33948057 - HBB P68871 VAR_003026 p.Asn103Tyr LB/B rs33927739 - HBB P68871 VAR_003027 p.Phe104Leu LB/B rs35067717 - HBB P68871 VAR_003028 p.Arg105Ser LB/B rs33914944 - HBB P68871 VAR_003029 p.Arg105Thr LB/B rs33911434 - HBB P68871 VAR_003030 p.Gly108Arg LB/B rs35017910 - HBB P68871 VAR_003031 p.Asn109Lys LB/B rs34933751 - HBB P68871 VAR_003032 p.Val110Met LB/B rs33969677 - HBB P68871 VAR_003033 p.Leu111Pro LB/B rs35256489 - HBB P68871 VAR_003034 p.Val112Ala LB/B rs35871407 - HBB P68871 VAR_003035 p.Cys113Arg LB/B rs35849199 - HBB P68871 VAR_003036 p.Cys113Tyr LB/B rs33932908 - HBB P68871 VAR_003037 p.Ala116Asp LP/P rs35485099 Beta-thalassemia (B-THAL) [MIM:613985] HBB P68871 VAR_003038 p.Ala116Pro LB/B rs34945623 - HBB P68871 VAR_003039 p.His117Gln LB/B rs35209776 - HBB P68871 VAR_003040 p.His118Pro LB/B rs33935673 - HBB P68871 VAR_003041 p.His118Arg LB/B rs33935673 - HBB P68871 VAR_003042 p.Gly120Ala LB/B rs33947020 - HBB P68871 VAR_003043 p.Lys121Glu LB/B rs33924134 - HBB P68871 VAR_003044 p.Lys121Ile LB/B rs34303736 - HBB P68871 VAR_003045 p.Lys121Gln LB/B rs33924134 - HBB P68871 VAR_003046 p.Glu122Ala LB/B rs33987957 - HBB P68871 VAR_003047 p.Glu122Gly LB/B rs33987957 - HBB P68871 VAR_003048 p.Glu122Gln LB/B rs33946267 - HBB P68871 VAR_003049 p.Glu122Lys LB/B rs33946267 - HBB P68871 VAR_003050 p.Glu122Val LB/B rs33987957 - HBB P68871 VAR_003051 p.Thr124Ile LB/B rs33935383 - HBB P68871 VAR_003052 p.Pro125Arg LB/B rs33983276 - HBB P68871 VAR_003053 p.Pro125Gln LB/B rs33983276 - HBB P68871 VAR_003054 p.Pro125Ser LB/B rs35461710 - HBB P68871 VAR_003055 p.Val127Ala LB/B rs33925391 - HBB P68871 VAR_003056 p.Val127Gly LP/P rs33925391 Beta-thalassemia (B-THAL) [MIM:613985] HBB P68871 VAR_003057 p.Val127Glu LB/B rs33925391 - HBB P68871 VAR_003058 p.Gln128Glu LB/B rs33971634 - HBB P68871 VAR_003059 p.Gln128Lys LB/B rs33971634 - HBB P68871 VAR_003060 p.Ala129Asp LB/B rs33957286 - HBB P68871 VAR_003061 p.Ala130Pro LB/B rs35939430 - HBB P68871 VAR_003062 p.Ala130Val LB/B rs111645889 - HBB P68871 VAR_003063 p.Tyr131Asp LB/B rs35834416 - HBB P68871 VAR_003064 p.Tyr131Ser LB/B rs33937535 - HBB P68871 VAR_003065 p.Gln132Glu LB/B rs33910209 - HBB P68871 VAR_003066 p.Gln132Lys LB/B rs33910209 - HBB P68871 VAR_003067 p.Gln132Pro LB/B rs33950778 - HBB P68871 VAR_003068 p.Gln132Arg LB/B rs33950778 - HBB P68871 VAR_003069 p.Lys133Asn LB/B rs33946775 - HBB P68871 VAR_003070 p.Lys133Gln LB/B rs33953406 - HBB P68871 VAR_003071 p.Val134Leu LB/B rs34095019 - HBB P68871 VAR_003072 p.Val135Glu LB/B rs33966761 - HBB P68871 VAR_003073 p.Ala136Asp LB/B rs35669628 - HBB P68871 VAR_003074 p.Ala136Pro LB/B rs35492035 - HBB P68871 VAR_003075 p.Gly137Asp LB/B rs33949486 - HBB P68871 VAR_003076 p.Ala139Pro LB/B rs33919821 - HBB P68871 VAR_003077 p.Asn140Asp LB/B rs33910475 - HBB P68871 VAR_003078 p.Asn140Lys LB/B rs34240441 - HBB P68871 VAR_003079 p.Asn140Tyr LB/B rs33910475 - HBB P68871 VAR_003080 p.Ala141Asp LB/B rs33927093 - HBB P68871 VAR_003081 p.Ala141Thr LB/B rs34980264 - HBB P68871 VAR_003082 p.Ala141Val LB/B rs33927093 - HBB P68871 VAR_003083 p.Leu142Arg LB/B rs35854892 - HBB P68871 VAR_003084 p.Ala143Asp LB/B rs33921821 - HBB P68871 VAR_003085 p.His144Asp LB/B rs33929415 - HBB P68871 VAR_003086 p.His144Gln LB/B rs36020563 - HBB P68871 VAR_003087 p.His144Pro LB/B rs33918338 - HBB P68871 VAR_003088 p.His144Arg LB/B rs33918338 - HBB P68871 VAR_003089 p.Lys145Glu LB/B rs33964352 - HBB P68871 VAR_003090 p.Tyr146Cys LB/B rs35117167 - HBB P68871 VAR_003091 p.Tyr146His LB/B rs33949869 - HBB P68871 VAR_003092 p.His147Asp LB/B rs33961444 - HBB P68871 VAR_003093 p.His147Leu LB/B rs33954264 - HBB P68871 VAR_003094 p.His147Pro LB/B rs33954264 - HBB P68871 VAR_003095 p.His147Gln LB/B rs33985739 - HBB P68871 VAR_010144 p.Leu115Met LB/B rs33917394 - HBB P68871 VAR_010145 p.Leu115Pro LP/P rs36015961 Beta-thalassemia (B-THAL) [MIM:613985] HBB P68871 VAR_012663 p.Leu82His LB/B rs33936967 - HBB P68871 VAR_012664 p.Lys83Asn LB/B rs33991993 - HBB P68871 VAR_025335 p.Asn140Ser US - - HBB P68871 VAR_025393 p.Ala11Val LB/B rs33947457 - HBB P68871 VAR_025394 p.Val35Asp LB/B rs1135101 - HBB P68871 VAR_025395 p.Val35Leu LB/B rs1141387 - HBB P68871 VAR_025396 p.Gly84Asp LB/B rs1803195 - HBB P68871 VAR_025397 p.Cys113Phe LB/B rs33932908 - HBB P68871 VAR_025398 p.His117Leu LB/B rs33978082 - HBB P68871 VAR_025399 p.His118Tyr LB/B rs33935527 - HBB P68871 VAR_035236 p.Leu29Gln LB/B rs33916412 - HBB P68871 VAR_035239 p.Phe43Ser LB/B rs34378160 - HBB P68871 VAR_035240 p.Val68Asp US - - HBB P68871 VAR_040060 p.Val68Gly LB/B rs33918343 - HBB P68871 VAR_049273 p.Leu82Val LB/B rs11549406 - HBB P68871 VAR_079528 p.Lys67Ile US - - HBD P02042 VAR_003096 p.Val2Ala LB/B rs34991152 - HBD P02042 VAR_003097 p.His3Arg LB/B rs35433207 - HBD P02042 VAR_003098 p.Asn13Lys LB/B rs34313675 - HBD P02042 VAR_003099 p.Gly17Arg LB/B rs34012192 - HBD P02042 VAR_003100 p.Val21Glu LB/B rs34093840 - HBD P02042 VAR_003101 p.Ala23Glu LB/B rs35395083 - HBD P02042 VAR_003102 p.Gly25Asp LB/B rs34460332 - HBD P02042 VAR_003103 p.Gly26Asp LB/B rs34389944 - HBD P02042 VAR_003104 p.Glu27Asp LB/B rs34289459 - HBD P02042 VAR_003105 p.Ala28Ser LB/B rs35152987 - HBD P02042 VAR_003106 p.Glu44Gly LB/B rs36084266 - HBD P02042 VAR_003107 p.Glu44Lys LB/B rs35166721 - HBD P02042 VAR_003108 p.Asp48Val LB/B rs34977235 - HBD P02042 VAR_003109 p.Pro52Arg LB/B rs34489183 - HBD P02042 VAR_003110 p.Gly70Arg LB/B rs35913713 - HBD P02042 VAR_003111 p.Leu76Val LB/B rs34430836 - HBD P02042 VAR_003112 p.Glu91Val LB/B rs34420481 - HBD P02042 VAR_003113 p.Val99Met LB/B rs28933076 - HBD P02042 VAR_003114 p.Asp100Asn LB/B rs35329985 - HBD P02042 VAR_003115 p.Arg117Cys LB/B rs33971270 - HBD P02042 VAR_003116 p.Arg117His LB/B rs34536353 - HBD P02042 VAR_003117 p.Asn118Asp LB/B rs36049174 - HBD P02042 VAR_003118 p.Glu122Val LB/B rs35790721 - HBD P02042 VAR_003119 p.Gln126Glu LB/B rs36078803 - HBD P02042 VAR_003120 p.Gly137Asp LB/B rs35849348 - HBD P02042 VAR_003121 p.Leu142Pro LB/B rs33956485 - HBD P02042 VAR_003122 p.Ala143Asp LB/B rs35848600 - HBD P02042 VAR_014277 p.Cys94Gly LB/B rs28933077 - HBD P02042 VAR_014278 p.His147Arg LB/B rs34149886 - HBD P02042 VAR_018740 p.Thr5Ile LB/B rs35406175 - HBD P02042 VAR_018741 p.Thr5Ser LB/B rs35406175 - HBD P02042 VAR_030499 p.His3Leu LB/B rs35433207 - HBD P02042 VAR_030500 p.Ala11Asp US - - HBD P02042 VAR_030501 p.Val12Gly LB/B rs34090605 - HBD P02042 VAR_030502 p.Pro37His LB/B rs34383555 - HBD P02042 VAR_030503 p.Asn58Lys LB/B rs35666685 - HBD P02042 VAR_030504 p.Ala71Gly LB/B rs63750423 - HBD P02042 VAR_030505 p.Phe86Ser LB/B rs35633566 - HBD P02042 VAR_030506 p.Gln88Lys LB/B rs63750674 - HBD P02042 VAR_030507 p.Leu89Val LB/B rs34933313 - HBD P02042 VAR_030508 p.Arg105Ser LB/B rs34390965 - HBD P02042 VAR_030509 p.Val134Ala LB/B rs34802738 - HBD P02042 VAR_030510 p.Ala141Val LB/B rs63750461 - HBG1 P69891 VAR_003124 p.His3Gln LB/B rs35315638 - HBG1 P69891 VAR_003125 p.Glu6Lys LB/B rs34427034 - HBG1 P69891 VAR_003127 p.Glu7Gly LB/B rs34432567 - HBG1 P69891 VAR_003128 p.Glu7Gln LB/B rs33924825 - HBG1 P69891 VAR_003130 p.Thr13Arg LB/B rs33992775 - HBG1 P69891 VAR_003135 p.Asp23Gly LB/B rs33970907 - HBG1 P69891 VAR_003138 p.Gly26Arg LB/B rs35957832 - HBG1 P69891 VAR_003141 p.Pro37Arg LB/B rs41404150 - HBG1 P69891 VAR_003142 p.Trp38Gly LB/B rs35700518 - HBG1 P69891 VAR_003143 p.Gln40Arg LB/B rs35977759 - HBG1 P69891 VAR_003145 p.Arg41Lys LB/B rs33974602 - HBG1 P69891 VAR_003147 p.Asp44Asn LB/B rs41475844 - HBG1 P69891 VAR_003149 p.Ala54Asp LB/B rs35746147 - HBG1 P69891 VAR_003153 p.Lys62Glu LB/B rs34747494 - HBG1 P69891 VAR_003158 p.Gly73Arg LB/B rs34049890 - HBG1 P69891 VAR_003159 p.Asp74Asn LB/B rs33965337 - HBG1 P69891 VAR_003160 p.Asp74His LB/B rs33965337 - HBG1 P69891 VAR_003161 p.Thr76Ile LB/B rs1061234 - HBG1 P69891 VAR_003163 p.Asp80Asn LB/B rs34435255 - HBG1 P69891 VAR_003164 p.Asp81Tyr LB/B rs33947112 - HBG1 P69891 VAR_003165 p.Asp81Asn LB/B rs33947112 - HBG1 P69891 VAR_003168 p.His98Arg LB/B rs34127117 - HBG1 P69891 VAR_003173 p.Glu122Lys LB/B rs33963857 - HBG1 P69891 VAR_003175 p.Ala129Thr LB/B rs41330850 - HBG1 P69891 VAR_003177 p.Val135Met LB/B rs35849660 - HBG2 P69892 VAR_003123 p.Gly2Cys LB/B rs36006195 - HBG2 P69892 VAR_003126 p.Glu6Gly LB/B rs34263826 - HBG2 P69892 VAR_003129 p.Asp8Asn LB/B rs34501593 - HBG2 P69892 VAR_003131 p.Trp16Arg LB/B rs34438981 - HBG2 P69892 VAR_003132 p.Gly17Arg LB/B rs34907654 - HBG2 P69892 VAR_003133 p.Glu22Lys LB/B rs33955330 - HBG2 P69892 VAR_003134 p.Glu22Gln LB/B rs33955330 - HBG2 P69892 VAR_003136 p.Asp23Val LB/B rs281864891 - HBG2 P69892 VAR_003137 p.Gly26Glu LB/B rs35687396 - HBG2 P69892 VAR_003139 p.Glu27Lys LB/B rs35654328 - HBG2 P69892 VAR_003140 p.Val35Ile LB/B rs35885783 - HBG2 P69892 VAR_003144 p.Arg41Gly LB/B rs34532478 - HBG2 P69892 VAR_003146 p.Phe42Ser LP/P rs34878913 Cyanosis transient neonatal (TNCY) [MIM:613977] HBG2 P69892 VAR_003148 p.Ser45Arg LB/B rs34017450 - HBG2 P69892 VAR_003150 p.Met56Arg LB/B rs34915311 - HBG2 P69892 VAR_003151 p.Lys60Glu LB/B rs28933078 - HBG2 P69892 VAR_003152 p.Lys60Gln LB/B rs28933078 - HBG2 P69892 VAR_003154 p.His64Tyr LP/P rs34474104 Cyanosis transient neonatal (TNCY) [MIM:613977] HBG2 P69892 VAR_003155 p.Lys66Asn LB/B rs34019507 - HBG2 P69892 VAR_003156 p.Lys67Arg LB/B rs35481866 - HBG2 P69892 VAR_003157 p.Lys67Gln LB/B rs34264694 - HBG2 P69892 VAR_003162 p.His78Arg LB/B rs34150306 - HBG2 P69892 VAR_003166 p.His93Tyr LP/P rs35103459 Cyanosis transient neonatal (TNCY) [MIM:613977] HBG2 P69892 VAR_003167 p.Asp95Asn LB/B rs35812514 - HBG2 P69892 VAR_003169 p.Glu102Lys LB/B rs34876238 - HBG2 P69892 VAR_003170 p.Lys105Asn LB/B rs35717854 - HBG2 P69892 VAR_003171 p.His118Arg LB/B rs36049074 - HBG2 P69892 VAR_003172 p.Lys121Gln LB/B rs34703519 - HBG2 P69892 VAR_003174 p.Glu126Ala LB/B rs34997902 - HBG2 P69892 VAR_003176 p.Trp131Gly LB/B rs35826780 - HBG2 P69892 VAR_003179 p.His147Tyr LB/B rs34807671 - HBG2 P69892 VAR_015740 p.Phe119Leu LB/B rs35020253 - HBG2 P69892 VAR_020643 p.Lys9Glu LB/B rs35521813 - HBG2 P69892 VAR_020644 p.Lys9Gln LB/B rs35521813 - HBG2 P69892 VAR_020645 p.Thr13Arg LB/B rs281864890 - HBG2 P69892 VAR_020646 p.Lys18Asn LB/B rs35621390 - HBG2 P69892 VAR_020647 p.Asn20Lys LB/B rs34018799 - HBG2 P69892 VAR_020648 p.Asp23Gly LB/B rs281864891 - HBG2 P69892 VAR_020649 p.Arg41Lys LB/B rs281864892 - HBG2 P69892 VAR_020650 p.Gly73Arg LB/B rs281860594 - HBG2 P69892 VAR_020651 p.Ile76Thr LB/B rs104894225 - HBG2 P69892 VAR_020652 p.Asp81Asn LB/B rs63751148 - HBG2 P69892 VAR_020653 p.Glu122Lys LB/B rs63750021 - HBG2 P69892 VAR_025336 p.His64Leu LP/P - Cyanosis transient neonatal (TNCY) [MIM:613977] HBG2 P69892 VAR_030496 p.Val21Ala LB/B rs63751196 - HBG2 P69892 VAR_030497 p.Thr39Pro LB/B rs35799058 - HBG2 P69892 VAR_030498 p.Ile76Val LB/B rs34363111 - HBG2 P69892 VAR_065950 p.Val68Met LP/P rs587776864 Cyanosis transient neonatal (TNCY) [MIM:613977] HBG2 P69892 VAR_073159 p.Leu106His LP/P - Cyanosis transient neonatal (TNCY) [MIM:613977] HBS1L Q9Y450 VAR_048963 p.Gly440Ser LB/B rs4435957 - HCAR1 Q9BXC0 VAR_025151 p.His43Gln LB/B rs35292336 - HCAR1 Q9BXC0 VAR_025152 p.Asp253Glu LB/B - - HCAR1 Q9BXC0 VAR_061218 p.Asp253His LB/B rs36124671 - HCAR2 Q8TDS4 VAR_038713 p.Arg311Cys LB/B rs7314976 - HCAR2 Q8TDS4 VAR_038714 p.Met317Ile LB/B rs2454727 - HCAR2 Q8TDS4 VAR_049400 p.Gln187Arg LB/B rs676770 - HCAR2 Q8TDS4 VAR_049401 p.Phe198Leu LB/B rs676823 - HCAR3 P49019 VAR_038715 p.Thr173Pro LB/B rs1798192 - HCAR3 P49019 VAR_038716 p.Phe198Leu LB/B rs17884481 - HCAR3 P49019 VAR_038717 p.His253Arg LB/B rs118091133 - HCAR3 P49019 VAR_038718 p.Ile317Met LB/B rs116821988 - HCAR3 P49019 VAR_038719 p.Ile346Met LB/B rs1696351 - HCAR3 P49019 VAR_038720 p.Gly350Ser LB/B rs201835480 - HCCS P53701 VAR_030823 p.Arg217Cys LP/P rs121917889 Linear skin defects with multiple congenital anomalies 1 (LSDMCA1) [MIM:309801] HCFC1 P51610 VAR_019813 p.Ser1164Pro LB/B rs1051152 - HCFC1 P51610 VAR_050043 p.Ser2004Ile LB/B rs6643651 - HCFC1 P51610 VAR_069098 p.Ser225Asn US rs318240758 Methylmalonic aciduria and homocystinuria, cblX type (MAHCX) [MIM:309541] HCFC1R1 Q9NWW0 VAR_043849 p.Pro92Gln LB/B rs10508 - HCFC2 Q9Y5Z7 VAR_033984 p.Gly268Ala LB/B rs17035206 - HCFC2 Q9Y5Z7 VAR_050044 p.Ala46Ser LB/B rs2700500 - HCK P08631 VAR_033836 p.Pro502Gln LB/B rs17093828 - HCK P08631 VAR_041707 p.Ala44Thr LB/B rs56029200 - HCK P08631 VAR_041708 p.Met105Leu LB/B rs55722810 - HCK P08631 VAR_041709 p.Asp399Gly US - An ovarian mucinous carcinoma sample HCLS1 P14317 VAR_055006 p.Thr235Ala LB/B rs2070179 - HCLS1 P14317 VAR_055007 p.Glu361Lys LB/B rs2070180 - HCLS1 P14317 VAR_056910 p.Val436Leu LB/B rs9869984 - HCN1 O60741 VAR_061105 p.Pro42Ser LB/B rs56164833 - HCN1 O60741 VAR_071825 p.Gly47Val LP/P rs544994462 Developmental and epileptic encephalopathy 24 (DEE24) [MIM:615871] HCN1 O60741 VAR_071826 p.Ser100Phe LP/P rs587777492 Developmental and epileptic encephalopathy 24 (DEE24) [MIM:615871] HCN1 O60741 VAR_071827 p.Ser272Pro LP/P rs587777493 Developmental and epileptic encephalopathy 24 (DEE24) [MIM:615871] HCN1 O60741 VAR_071828 p.His279Tyr LP/P rs587777495 Developmental and epileptic encephalopathy 24 (DEE24) [MIM:615871] HCN1 O60741 VAR_071829 p.Arg297Thr LP/P rs587777494 Developmental and epileptic encephalopathy 24 (DEE24) [MIM:615871] HCN1 O60741 VAR_071830 p.Asp401His LP/P rs587777491 Developmental and epileptic encephalopathy 24 (DEE24) [MIM:615871] HCN1 O60741 VAR_078216 p.Met153Ile LP/P rs1057519548 Developmental and epileptic encephalopathy 24 (DEE24) [MIM:615871] HCN1 O60741 VAR_078217 p.Gly391Asp LP/P rs1057519547 Developmental and epileptic encephalopathy 24 (DEE24) [MIM:615871] HCN1 O60741 VAR_082653 p.Glu85Ala US - Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482] HCN1 O60741 VAR_082654 p.Phe143Tyr US - Developmental and epileptic encephalopathy 24 (DEE24) [MIM:615871] HCN1 O60741 VAR_082655 p.Leu157Val US rs1561230606 Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482] HCN1 O60741 VAR_082656 p.Thr171Arg US - Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482] HCN1 O60741 VAR_082657 p.Thr172Pro US - Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482] HCN1 O60741 VAR_082658 p.Met243Arg LP/P rs1561230486 Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482] HCN1 O60741 VAR_082659 p.Thr260Ile US - Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482] HCN1 O60741 VAR_082660 p.Lys261Glu US rs1554037378 Developmental and epileptic encephalopathy 24 (DEE24) [MIM:615871] HCN1 O60741 VAR_082661 p.Ser264Cys US rs763339068 - HCN1 O60741 VAR_082662 p.Ile275Thr US - - HCN1 O60741 VAR_082663 p.Met305Leu LP/P rs1057521989 Developmental and epileptic encephalopathy 24 (DEE24) [MIM:615871] HCN1 O60741 VAR_082664 p.Cys329Ser LP/P rs1318391259 Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482] HCN1 O60741 VAR_082665 p.Met379Arg US - - HCN1 O60741 VAR_082666 p.Gly391Cys LP/P - Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482] HCN1 O60741 VAR_082667 p.Gly391Ser LP/P rs1561139569 Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482] HCN1 O60741 VAR_082668 p.Ile397Leu LP/P - Developmental and epileptic encephalopathy 24 (DEE24) [MIM:615871] HCN1 O60741 VAR_082669 p.Ser399Pro LP/P - Developmental and epileptic encephalopathy 24 (DEE24) [MIM:615871] HCN1 O60741 VAR_082670 p.Val414Met LP/P rs1561120793 Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482] HCN1 O60741 VAR_082671 p.Arg590Gln LP/P rs1561081319 Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482] HCN1 O60741 VAR_082672 p.Ser680Tyr US - Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482] HCN1 O60741 VAR_082673 p.Arg715Gly US rs1486444621 Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482] HCN1 O60741 VAR_085693 p.Pro851Ala US - - HCN2 Q9UL51 VAR_061106 p.Arg527Gln LB/B rs55687900 - HCN2 Q9UL51 VAR_081530 p.Leu418Val US - - HCN2 Q9UL51 VAR_086190 p.Ser126Leu LP/P - Febrile seizures, familial, 2 (FEB2) [MIM:602477] HCN2 Q9UL51 VAR_086191 p.Val246Met LP/P - Epilepsy, idiopathic generalized 17 (EIG17) [MIM:602477] HCN2 Q9UL51 VAR_086192 p.Glu280Lys LB/B rs114790896 - HCN2 Q9UL51 VAR_086193 p.Glu515Lys LP/P - Epilepsy, idiopathic generalized 17 (EIG17) [MIM:602477] HCN2 Q9UL51 VAR_086194 p.Ser632Trp LP/P - Epilepsy, idiopathic generalized 17 (EIG17) [MIM:602477] HCN2 Q9UL51 VAR_086195 p.Ala705Thr LB/B rs200188844 - HCN2 Q9UL51 VAR_086196 p.Arg756Cys US rs1230549709 Epilepsy, idiopathic generalized 17 (EIG17) [MIM:602477] HCN3 Q9P1Z3 VAR_048746 p.Pro630Leu LB/B rs35001694 - HCN4 Q9Y3Q4 VAR_026534 p.Asp553Asn LP/P rs104894485 Sick sinus syndrome 2 (SSS2) [MIM:163800] HCN4 Q9Y3Q4 VAR_026535 p.Ser672Arg LP/P rs104894488 Sick sinus syndrome 2 (SSS2) [MIM:163800] HCN4 Q9Y3Q4 VAR_066614 p.Ala485Val LP/P rs1454748709 Sick sinus syndrome 2 (SSS2) [MIM:163800] HCN4 Q9Y3Q4 VAR_086273 p.Arg550Cys LB/B rs150691273 - HCP5 Q6MZN7 VAR_042638 p.Trp32Arg LB/B rs17206855 - HCP5 Q6MZN7 VAR_042639 p.Trp82Cys LB/B rs2255221 - HCP5 Q6MZN7 VAR_042640 p.Gly93Glu LB/B rs2255223 - HCP5 Q6MZN7 VAR_042641 p.Val112Gly LB/B rs2395029 - HCP5 Q6MZN7 VAR_042642 p.His123Arg LB/B rs3130907 - HCRT O43612 VAR_011633 p.Leu16Arg LP/P rs104894574 Narcolepsy 1 (NRCLP1) [MIM:161400] HCRTR1 O43613 VAR_022063 p.Ile408Val LB/B rs2271933 - HCRTR1 O43613 VAR_033480 p.Arg279Gln LB/B rs7516785 - HCRTR1 O43613 VAR_044505 p.Gly167Ser LB/B rs144603792 - HCRTR1 O43613 VAR_044506 p.Arg281His LB/B rs41439244 - HCRTR2 O43614 VAR_044507 p.Pro10Ser LB/B rs41271310 - HCRTR2 O43614 VAR_044508 p.Pro11Thr LB/B rs41271312 - HCRTR2 O43614 VAR_044509 p.Ile293Val LB/B rs74720027 - HCRTR2 O43614 VAR_044510 p.Ile308Val LB/B rs2653349 - HDAC10 Q969S8 VAR_049356 p.Val429Ile LB/B rs34402301 - HDAC2 Q92769 VAR_025311 p.Arg230Cys LB/B rs1042903 - HDAC2 Q92769 VAR_025312 p.Tyr315His LB/B rs17852888 - HDAC3 O15379 VAR_033988 p.Asn411Ser LB/B rs34901743 - HDAC4 P56524 VAR_036042 p.Pro727Arg US - A breast cancer sample HDAC4 P56524 VAR_071965 p.Val754Ile LB/B rs151043798 - HDAC4 P56524 VAR_087034 p.Thr244Lys LP/P - Neurodevelopmental disorder with central hypotonia and dysmorphic facies (NEDCHF) [MIM:619797] HDAC4 P56524 VAR_087035 p.Glu247Gly LP/P - Neurodevelopmental disorder with central hypotonia and dysmorphic facies (NEDCHF) [MIM:619797] HDAC4 P56524 VAR_087036 p.Pro248Ala LP/P - Neurodevelopmental disorder with central hypotonia and dysmorphic facies (NEDCHF) [MIM:619797] HDAC4 P56524 VAR_087037 p.Pro248Leu LP/P - Neurodevelopmental disorder with central hypotonia and dysmorphic facies (NEDCHF) [MIM:619797] HDAC5 Q9UQL6 VAR_055903 p.Arg137Gln LB/B rs438096 - HDAC5 Q9UQL6 VAR_055904 p.Gly565Ala LB/B rs33916560 - HDAC6 Q9UBN7 VAR_046300 p.Thr994Ile LB/B rs1127346 - HDAC6 Q9UBN7 VAR_068962 p.Asn1200Asp LB/B rs151130423 - HDAC7 Q8WUI4 VAR_036043 p.Val43Met US rs1165948169 A breast cancer sample HDAC8 Q9BY41 VAR_069140 p.His180Arg LP/P rs397515416 Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882] HDAC8 Q9BY41 VAR_069141 p.Thr311Met LP/P rs397515417 Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882] HDAC8 Q9BY41 VAR_069142 p.Gly320Arg LP/P rs398122909 Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882] HDAC8 Q9BY41 VAR_069143 p.His334Arg LP/P rs397515418 Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882] HDAC9 Q9UKV0 VAR_064719 p.Pro921Thr LB/B rs1333490692 - HDC P19113 VAR_033846 p.Glu644Asp LB/B rs2073440 - HDC P19113 VAR_036470 p.Glu49Val US - A colorectal cancer sample HDC P19113 VAR_036471 p.Glu285Lys US rs1353958864 A colorectal cancer sample HDC P19113 VAR_048873 p.Thr31Met LB/B rs17740607 - HDC P19113 VAR_048874 p.Phe553Leu LB/B rs16963486 - HDDC2 Q7Z4H3 VAR_037238 p.Arg64Cys LB/B rs12213371 - HDGF P51858 VAR_061209 p.Pro201Leu LB/B rs4399146 - HDGFL1 Q5TGJ6 VAR_043447 p.Thr87Met LB/B rs2076506 - HDHD2 Q9H0R4 VAR_032289 p.Arg85Gln LB/B rs7230131 - HDHD3 Q9BSH5 VAR_032298 p.Gly146Glu LB/B rs1043836 - HDHD5 Q9BXW7 VAR_033674 p.Arg369Ser LB/B rs16982020 - HDHD5 Q9BXW7 VAR_050790 p.Thr179Met LB/B rs35665085 - HDHD5 Q9BXW7 VAR_050791 p.Arg416Cys LB/B rs35327402 - HDLBP Q00341 VAR_024511 p.Asn418Ser LB/B rs7578199 - HDLBP Q00341 VAR_029279 p.Trp1264Leu LB/B rs12281 - HDLBP Q00341 VAR_036052 p.Lys568Asn US - A breast cancer sample HDLBP Q00341 VAR_036053 p.Asp939Val US - A breast cancer sample HDLBP Q00341 VAR_047976 p.Ala61Ser LB/B rs11891776 - HDLBP Q00341 VAR_055981 p.Val229Ile LB/B rs7572799 - HDX Q7Z353 VAR_034827 p.Ala193Thr LB/B rs35653454 - HDX Q7Z353 VAR_034828 p.Phe397Ser LB/B rs35161124 - HEATR1 Q9H583 VAR_010939 p.Asn1694Ser LB/B rs2275689 - HEATR1 Q9H583 VAR_010940 p.Val1854Ala LB/B rs1885533 - HEATR1 Q9H583 VAR_010941 p.Asn1967Asp LB/B rs1126627 - HEATR1 Q9H583 VAR_010942 p.Glu2017Gly LB/B rs2275687 - HEATR1 Q9H583 VAR_049329 p.His348Arg LB/B rs2794751 - HEATR1 Q9H583 VAR_049330 p.Met607Val LB/B rs2794763 - HEATR1 Q9H583 VAR_049331 p.Asp957Gly LB/B rs16833953 - HEATR1 Q9H583 VAR_049332 p.Tyr1433Cys LB/B rs653737 - HEATR1 Q9H583 VAR_049333 p.Ser1559Asn LB/B rs6661946 - HEATR1 Q9H583 VAR_049334 p.Arg1654His LB/B rs16833884 - HEATR1 Q9H583 VAR_049335 p.Ser2077Leu LB/B rs6664730 - HEATR3 Q7Z4Q2 VAR_033989 p.Arg302Ser LB/B rs34703459 - HEATR3 Q7Z4Q2 VAR_087794 p.Cys134Arg US - Diamond-Blackfan anemia 21 (DBA21) [MIM:620072] HEATR3 Q7Z4Q2 VAR_087795 p.Pro240Leu US - Diamond-Blackfan anemia 21 (DBA21) [MIM:620072] HEATR3 Q7Z4Q2 VAR_087796 p.Cys446Tyr LP/P - Diamond-Blackfan anemia 21 (DBA21) [MIM:620072] HEATR3 Q7Z4Q2 VAR_087797 p.Gly584Glu LP/P - Diamond-Blackfan anemia 21 (DBA21) [MIM:620072] HEATR4 Q86WZ0 VAR_028817 p.Leu634His LB/B rs12894435 - HEATR4 Q86WZ0 VAR_028818 p.Trp643Gly LB/B rs12894425 - HEATR4 Q86WZ0 VAR_028819 p.Val660Ala LB/B rs12894400 - HEATR5B Q9P2D3 VAR_037392 p.Ser1601Pro LB/B rs2302657 - HEATR6 Q6AI08 VAR_043670 p.Ala71Val LB/B rs3744376 - HEATR6 Q6AI08 VAR_043671 p.Ser1006Leu LB/B rs16943991 - HEATR9 A2RTY3 VAR_032281 p.Ser480Phe LB/B rs2306630 - HEATR9 A2RTY3 VAR_035685 p.Ile330Met US - A breast cancer sample HEBP1 Q9NRV9 VAR_053363 p.Glu183Asp LB/B rs1941 - HEBP2 Q9Y5Z4 VAR_053364 p.Arg140Gln LB/B rs3734303 - HEBP2 Q9Y5Z4 VAR_053365 p.Glu191Ala LB/B rs14812 - HECTD1 Q9ULT8 VAR_059666 p.Gln656His LB/B rs11620816 - HECTD1 Q9ULT8 VAR_067707 p.Pro2027Leu LB/B rs1315794 - HECTD2 Q5U5R9 VAR_026836 p.Pro19Ala LB/B rs7081569 - HECTD4 Q9Y4D8 VAR_088304 p.Arg1203Trp US - Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum (NEDSSCC) [MIM:620250] HECTD4 Q9Y4D8 VAR_088306 p.Thr1843Arg US - Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum (NEDSSCC) [MIM:620250] HECTD4 Q9Y4D8 VAR_088307 p.His2985Tyr US - Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum (NEDSSCC) [MIM:620250] HECTD4 Q9Y4D8 VAR_088308 p.Val3566Met US - Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum (NEDSSCC) [MIM:620250] HECW2 Q9P2P5 VAR_077905 p.Arg1191Gln LP/P rs878854416 Neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL) [MIM:617268] HECW2 Q9P2P5 VAR_077906 p.Phe1193Val LP/P rs878854422 Neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL) [MIM:617268] HECW2 Q9P2P5 VAR_077907 p.Arg1330Trp LP/P rs878854417 Neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL) [MIM:617268] HECW2 Q9P2P5 VAR_077908 p.Glu1445Gly LP/P rs878854424 Neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL) [MIM:617268] HEG1 Q9ULI3 VAR_032253 p.Phe602Ser LB/B rs6790837 - HEG1 Q9ULI3 VAR_032254 p.Val980Leu LB/B rs10804567 - HEG1 Q9ULI3 VAR_032255 p.Met1039Thr LB/B rs6438869 - HEG1 Q9ULI3 VAR_048984 p.Gln145Arg LB/B rs4404487 - HEG1 Q9ULI3 VAR_059269 p.Ser305Pro LB/B rs2981546 - HELB Q8NG08 VAR_043855 p.Glu172Lys LB/B rs35605829 - HELB Q8NG08 VAR_043856 p.Leu191Pro LB/B rs4430553 - HELB Q8NG08 VAR_043857 p.Leu267Phe LB/B rs35138454 - HELB Q8NG08 VAR_043858 p.Pro966Leu LB/B rs1185244 - HELB Q8NG08 VAR_043859 p.Thr980Ile LB/B rs1168312 - HELB Q8NG08 VAR_061665 p.Thr575Ala LB/B rs58589183 - HELLS Q9NRZ9 VAR_064720 p.His616Arg US - - HELLS Q9NRZ9 VAR_076582 p.Gln699Arg US rs879253733 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4) [MIM:616911] HELQ Q8TDG4 VAR_042643 p.Asp565Asn US - A breast cancer sample HELQ Q8TDG4 VAR_055892 p.Leu235Pro LB/B rs17006837 - HELQ Q8TDG4 VAR_055893 p.Pro585Ser LB/B rs6817280 - HELQ Q8TDG4 VAR_055894 p.Val1094Met LB/B rs17006794 - HELQ Q8TDG4 VAR_061213 p.Val35Glu LB/B rs6831595 - HELT A6NFD8 VAR_049540 p.Leu62Val LB/B rs1078461 - HELZ P42694 VAR_057273 p.Cys48Arg LB/B rs2302669 - HELZ P42694 VAR_057274 p.Val74Met LB/B rs8080100 - HELZ P42694 VAR_057275 p.Ala1530Val LB/B rs11653020 - HELZ2 Q9BYK8 VAR_015597 p.Ser1035Asn LB/B rs438363 - HELZ2 Q9BYK8 VAR_015598 p.His1370Arg LB/B rs310632 - HELZ2 Q9BYK8 VAR_015599 p.Pro2263Leu LB/B rs3810485 - HELZ2 Q9BYK8 VAR_015600 p.Gln2296Glu LB/B rs3810483 - HELZ2 Q9BYK8 VAR_047038 p.Ser1399Leu LB/B rs35817585 - HELZ2 Q9BYK8 VAR_047039 p.Val1555Leu LB/B rs310631 - HELZ2 Q9BYK8 VAR_047040 p.Arg1628Lys LB/B rs3810487 - HELZ2 Q9BYK8 VAR_047041 p.Leu2068Arg LB/B rs3810486 - HELZ2 Q9BYK8 VAR_047042 p.Thr2136Ala LB/B rs34980032 - HELZ2 Q9BYK8 VAR_047043 p.Thr2417Met LB/B rs3810481 - HEMK1 Q9Y5R4 VAR_049503 p.Arg192Gln LB/B rs2232250 - HEMK1 Q9Y5R4 VAR_049504 p.His200Gln LB/B rs2232251 - HENMT1 Q5T8I9 VAR_035017 p.Thr129Ala LB/B rs9988420 - HENMT1 Q5T8I9 VAR_035018 p.Arg230Gln LB/B rs35974434 - HENMT1 Q5T8I9 VAR_035019 p.Met361Ile LB/B rs17850887 - HEPACAM Q14CZ8 VAR_034731 p.Met218Val LB/B rs10790715 - HEPACAM Q14CZ8 VAR_065849 p.Leu23His LP/P - Megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC2A) [MIM:613925] HEPACAM Q14CZ8 VAR_065850 p.Gly89Asp LP/P rs387907054 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development (MLC2B) [MIM:613926] HEPACAM Q14CZ8 VAR_065851 p.Gly89Ser LP/P rs387907053 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development (MLC2B) [MIM:613926] HEPACAM Q14CZ8 VAR_065852 p.Arg92Gln LP/P rs387907050 Megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC2A) [MIM:613925] HEPACAM Q14CZ8 VAR_065853 p.Arg92Trp LP/P rs387907055 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development (MLC2B) [MIM:613926] HEPACAM Q14CZ8 VAR_065854 p.Arg98Cys LP/P rs387907052 Megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC2A) [MIM:613925] HEPACAM Q14CZ8 VAR_065855 p.Asp128Asn LP/P - Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development (MLC2B) [MIM:613926] HEPACAM Q14CZ8 VAR_065857 p.Pro148Ser LP/P rs1555055028 Megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC2A) [MIM:613925] HEPACAM Q14CZ8 VAR_065858 p.Ser196Tyr LP/P rs387907049 Megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC2A) [MIM:613925] HEPACAM Q14CZ8 VAR_065859 p.Asp211Asn LP/P rs387907051 Megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC2A) [MIM:613925] HEPACAM Q14CZ8 VAR_065860 p.Arg288Cys LP/P rs149782549 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development (MLC2B) [MIM:613926] HEPACAM2 A8MVW5 VAR_042976 p.Gly31Arg US - A breast cancer sample HEPACAM2 A8MVW5 VAR_042977 p.Lys86Thr LB/B rs10281525 - HEPACAM2 A8MVW5 VAR_064721 p.Phe114Leu LB/B rs555587403 - HEPH Q9BQS7 VAR_024379 p.Ala595Thr LB/B rs17216603 - HEPHL1 Q6MZM0 VAR_045903 p.Asn251Asp LB/B rs1945783 - HEPHL1 Q6MZM0 VAR_045904 p.Arg381Cys LB/B rs12291622 - HEPHL1 Q6MZM0 VAR_082700 p.Ala355Thr LP/P rs774463623 Abnormal hair, joint laxity, and developmental delay (HJDD) [MIM:261990] HEPHL1 Q6MZM0 VAR_082701 p.Met1059Thr LP/P rs199856193 Abnormal hair, joint laxity, and developmental delay (HJDD) [MIM:261990] HEPN1 Q6WQI6 VAR_051027 p.Trp37Arg LB/B rs3802904 - HERC1 Q15751 VAR_042556 p.Leu1088Phe LB/B rs1063423 - HERC1 Q15751 VAR_042557 p.Leu1278Phe LB/B rs3764187 - HERC1 Q15751 VAR_042558 p.Gly1411Val LB/B rs36089909 - HERC1 Q15751 VAR_042559 p.His1447Asn LB/B rs7162519 - HERC1 Q15751 VAR_042560 p.Ser1572Ala LB/B rs16947363 - HERC1 Q15751 VAR_042561 p.Gly1696Ala LB/B rs2255243 - HERC1 Q15751 VAR_042562 p.Thr1995Ala LB/B rs2228512 - HERC1 Q15751 VAR_042563 p.Ile2220Val LB/B rs2228510 - HERC1 Q15751 VAR_042564 p.Ala2816Thr LB/B rs35122568 - HERC1 Q15751 VAR_042565 p.Ser3152Phe LB/B rs2228513 - HERC1 Q15751 VAR_042566 p.Gly3517Arg LB/B rs7182782 - HERC1 Q15751 VAR_042567 p.Glu3722Asp LB/B rs2229749 - HERC1 Q15751 VAR_057122 p.Ile4394Val LB/B rs2228516 - HERC1 Q15751 VAR_076995 p.Gly4520Glu LP/P rs769677823 Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) [MIM:617011] HERC1 Q15751 VAR_081534 p.Ser3485Asn US - - HERC2 O95714 VAR_069282 p.Pro594Leu LP/P rs397518474 Intellectual developmental disorder, autosomal recessive 38 (MRT38) [MIM:615516] HERC2P3 Q9BVR0 VAR_046344 p.Leu759Pro LB/B rs17134681 - HERC2P3 Q9BVR0 VAR_046345 p.Arg1119Ile LB/B rs4931826 - HERC3 Q15034 VAR_051729 p.Glu946Gln LB/B rs1804080 - HERC5 Q9UII4 VAR_057123 p.Ala301Thr LB/B rs17014143 - HERC6 Q8IVU3 VAR_051725 p.Met123Thr LB/B rs7677237 - HERC6 Q8IVU3 VAR_051726 p.Cys199Arg LB/B rs12510688 - HERC6 Q8IVU3 VAR_051727 p.Phe343Leu LB/B rs17014118 - HERC6 Q8IVU3 VAR_051728 p.Thr614Ile LB/B rs6532068 - HERPUD1 Q15011 VAR_024277 p.Arg50His LB/B rs2217332 - HERPUD2 Q9BSE4 VAR_031182 p.Ala108Thr LB/B rs3779234 - HERPUD2 Q9BSE4 VAR_031183 p.His200Leu LB/B rs2305335 - HES2 Q9Y543 VAR_061256 p.Pro139Ser LB/B rs2235687 - HES6 Q96HZ4 VAR_019540 p.Arg218Gln LB/B rs3739061 - HES7 Q9BYE0 VAR_064921 p.Arg25Trp LP/P rs113994160 Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686] HES7 Q9BYE0 VAR_064922 p.Ile58Val LP/P rs387906979 Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686] HES7 Q9BYE0 VAR_064923 p.Asp186Tyr LP/P rs387906978 Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686] HESX1 Q9UBX0 VAR_010225 p.Arg160Cys LP/P rs28936702 Septooptic dysplasia (SOD) [MIM:182230] HESX1 Q9UBX0 VAR_010400 p.Asn125Ser LB/B rs9878928 - HESX1 Q9UBX0 VAR_063230 p.Gln6His LP/P rs121909173 Pituitary hormone deficiency, combined, 5 (CPHD5) [MIM:182230] HESX1 Q9UBX0 VAR_063231 p.Ile26Thr LP/P rs28936416 Pituitary hormone deficiency, combined, 5 (CPHD5) [MIM:182230] HESX1 Q9UBX0 VAR_063232 p.Glu149Lys LP/P rs104893742 Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230] HESX1 Q9UBX0 VAR_063233 p.Ser170Leu LP/P rs28936703 Septooptic dysplasia (SOD) [MIM:182230] HESX1 Q9UBX0 VAR_063234 p.Thr181Ala LP/P rs28936704 Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230] HESX1 Q9UBX0 VAR_078488 p.Arg109Gln US rs768165720 Pituitary hormone deficiency, combined, 5 (CPHD5) [MIM:182230] HEXA P06865 VAR_003202 p.Pro25Ser LP/P - GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003203 p.Leu39Arg LP/P rs121907979 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003204 p.Leu127Arg LP/P rs121907975 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003205 p.Arg166Gly LP/P - GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003206 p.Arg170Gln LP/P rs121907957 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003207 p.Arg170Trp LP/P rs121907972 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003208 p.Arg178Cys LP/P rs121907953 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003209 p.Arg178His LP/P rs28941770 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003210 p.Arg178Leu LP/P rs28941770 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003211 p.Tyr180His LP/P rs28941771 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003212 p.Val192Leu LP/P rs387906310 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003213 p.Asn196Ser LP/P rs753862880 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003214 p.Lys197Thr LP/P rs121907973 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003215 p.Val200Met LP/P rs1800429 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003216 p.His204Arg LP/P rs121907976 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003217 p.Ser210Phe LP/P rs121907961 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003218 p.Phe211Ser LP/P rs121907974 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003219 p.Arg247Trp LB/B rs121907970 - HEXA P06865 VAR_003220 p.Arg249Trp LB/B rs138058578 - HEXA P06865 VAR_003221 p.Gly250Asp LP/P rs121907959 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003222 p.Gly250Ser LP/P rs1057521137 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003223 p.Arg252His LP/P rs762255098 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003224 p.Asp258His LP/P rs121907971 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003225 p.Gly269Ser LP/P rs121907954 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003226 p.Ser279Pro LP/P - GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003227 p.Met301Arg LP/P rs121907977 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003230 p.Ile335Phe LP/P rs1555472604 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003232 p.Val391Met LP/P - GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003233 p.Asn399Asp LB/B rs1800430 - HEXA P06865 VAR_003234 p.Trp420Cys LP/P rs121907958 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003235 p.Ile436Val LB/B rs1800431 - HEXA P06865 VAR_003236 p.Gly454Ser LP/P rs121907978 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003237 p.Gly455Arg LP/P - GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003238 p.Cys458Tyr LP/P - GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003239 p.Trp474Cys LP/P rs121907981 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003240 p.Glu482Lys LP/P rs121907952 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003241 p.Leu484Gln LP/P - GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003242 p.Trp485Arg LP/P rs121907968 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003243 p.Arg499Cys LP/P rs121907966 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003244 p.Arg499His LP/P rs121907956 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003245 p.Arg504Cys LP/P rs28942071 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003246 p.Arg504His LP/P rs121907955 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_017188 p.Arg252Leu LP/P - GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_017189 p.Asn295Ser LP/P rs199578185 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_022439 p.Leu127Phe LP/P - GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_022440 p.Ser226Phe LP/P rs769866128 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_022441 p.Gly269Asp LP/P rs121907980 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_022442 p.Asp314Val LP/P rs1555472696 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_058477 p.Ser293Ile LB/B rs1054374 - HEXA P06865 VAR_077497 p.Glu114Lys US rs748190164 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_077498 p.Asp322Asn LP/P rs772180415 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_077499 p.Asp322Tyr LP/P rs772180415 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_077500 p.Arg393Pro LP/P rs370266293 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_077501 p.Glu462Val LP/P rs863225434 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_077502 p.Gly478Arg LP/P rs1057519467 GM2-gangliosidosis 1 (GM2G1) [MIM:272800] HEXB P07686 VAR_003247 p.Leu62Ser LB/B rs820878 - HEXB P07686 VAR_003248 p.Lys121Arg LB/B rs11556045 - HEXB P07686 VAR_003249 p.Ile207Val LB/B rs10805890 - HEXB P07686 VAR_003250 p.Cys309Tyr LP/P rs1554036641 GM2-gangliosidosis 2 (GM2G2) [MIM:268800] HEXB P07686 VAR_003251 p.Pro417Leu LP/P rs28942073 GM2-gangliosidosis 2 (GM2G2) [MIM:268800] HEXB P07686 VAR_003252 p.Tyr456Ser LP/P rs121907982 GM2-gangliosidosis 2 (GM2G2) [MIM:268800] HEXB P07686 VAR_003253 p.Arg505Gln LP/P rs121907983 GM2-gangliosidosis 2 (GM2G2) [MIM:268800] HEXB P07686 VAR_003254 p.Cys534Tyr LP/P rs727503960 GM2-gangliosidosis 2 (GM2G2) [MIM:268800] HEXB P07686 VAR_011704 p.Ser255Arg LP/P rs1554035829 GM2-gangliosidosis 2 (GM2G2) [MIM:268800] HEXB P07686 VAR_011705 p.Pro504Ser LP/P rs121907985 GM2-gangliosidosis 2 (GM2G2) [MIM:268800] HEXB P07686 VAR_011706 p.Ala543Thr LP/P rs121907984 GM2-gangliosidosis 2 (GM2G2) [MIM:268800] HEXD Q8WVB3 VAR_038395 p.Ile145Val LB/B rs4789773 - HEXD Q8WVB3 VAR_060726 p.His232Tyr LB/B rs17853433 - HEY2 Q9UBP5 VAR_026974 p.Thr96Ala LB/B rs747221103 - HEY2 Q9UBP5 VAR_026975 p.Asp98Ala US - - HEY2 Q9UBP5 VAR_026976 p.Leu100Ser US - - HEY2 Q9UBP5 VAR_026977 p.Val140Met LB/B rs3734638 - HEYL Q9NQ87 VAR_032112 p.His47Arg LB/B rs784625 - HFE Q30201 VAR_004396 p.His63Asp LP/P rs1799945 Hemochromatosis 1 (HFE1) [MIM:235200] HFE Q30201 VAR_004397 p.Ser65Cys LP/P rs1800730 Hemochromatosis 1 (HFE1) [MIM:235200] HFE Q30201 VAR_004398 p.Cys282Tyr LP/P rs1800562 Hemochromatosis 1 (HFE1) [MIM:235200] HFE Q30201 VAR_008111 p.Val53Met LB/B rs28934889 - HFE Q30201 VAR_008112 p.Val59Met LB/B rs111033557 - HFE Q30201 VAR_008113 p.Gln127His LP/P rs28934595 Hemochromatosis 1 (HFE1) [MIM:235200] HFE Q30201 VAR_008114 p.Arg330Met LP/P rs111033558 Hemochromatosis 1 (HFE1) [MIM:235200] HFE Q30201 VAR_008729 p.Gly93Arg LP/P rs28934597 Hemochromatosis 1 (HFE1) [MIM:235200] HFE Q30201 VAR_008730 p.Ile105Thr LP/P rs28934596 Hemochromatosis 1 (HFE1) [MIM:235200] HFE Q30201 VAR_008731 p.Glu277Lys LB/B rs140080192 - HFE Q30201 VAR_020270 p.Thr217Ile LB/B rs4986950 - HFE Q30201 VAR_037304 p.Gln283Pro LP/P rs111033563 Hemochromatosis 1 (HFE1) [MIM:235200] HFE Q30201 VAR_042506 p.Arg6Ser US rs149342416 Hemochromatosis 1 (HFE1) [MIM:235200] HFE Q30201 VAR_042507 p.Gly43Asp LP/P - Hemochromatosis 1 (HFE1) [MIM:235200] HFE Q30201 VAR_042508 p.Arg66Cys LP/P rs747739169 Hemochromatosis 1 (HFE1) [MIM:235200] HFE Q30201 VAR_042509 p.Ala176Val US - Hemochromatosis 1 (HFE1) [MIM:235200] HFE Q30201 VAR_042510 p.Arg224Gly LP/P - Hemochromatosis 1 (HFE1) [MIM:235200] HFE Q30201 VAR_042511 p.Val295Ala LP/P rs143175221 Hemochromatosis 1 (HFE1) [MIM:235200] HFE Q30201 VAR_062279 p.Arg224Gln LB/B rs62625346 - HFM1 A2PYH4 VAR_039799 p.Ser115Pro LB/B rs11165778 - HFM1 A2PYH4 VAR_039800 p.Ile117Val LB/B rs282009 - HFM1 A2PYH4 VAR_049338 p.Ile939Val LB/B rs11584478 - HFM1 A2PYH4 VAR_071262 p.Gly736Ser LP/P rs587777269 Premature ovarian failure 9 (POF9) [MIM:615724] HFM1 A2PYH4 VAR_071263 p.Ile884Ser LP/P rs587777268 Premature ovarian failure 9 (POF9) [MIM:615724] HGD Q93099 VAR_005272 p.Glu42Ala LP/P rs373921680 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005273 p.Trp60Gly LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005274 p.Tyr62Cys LP/P rs1174584850 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005275 p.Trp97Gly LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005276 p.Ala122Asp LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005277 p.Asp153Gly LP/P rs775274569 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005278 p.Gly161Arg LP/P rs28941783 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005279 p.Ser189Ile LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005280 p.Ile216Thr LP/P rs767201131 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005281 p.Arg225His LP/P rs562853291 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005282 p.Phe227Ser LP/P rs1941093400 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005283 p.Pro230Ser LP/P rs28942100 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005284 p.Pro230Thr LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005285 p.Asp291Glu LP/P rs754428438 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005286 p.Val300Gly LP/P rs120074170 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005287 p.Met368Val LP/P rs120074173 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_008744 p.Arg330Ser LP/P rs120074171 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_008745 p.His371Arg LP/P rs120074172 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_009618 p.Leu25Pro LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_009619 p.Glu168Lys LP/P rs375283568 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_009620 p.Gly270Arg LP/P rs120074174 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_049353 p.Gln80His LB/B rs2255543 - HGD Q93099 VAR_073076 p.Glu3Ala LP/P rs200412910 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073077 p.Glu13Lys LP/P rs1458752246 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073078 p.Asp18Asn LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073079 p.Gln33Arg LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073080 p.Leu44Phe LP/P rs1049246177 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073081 p.Arg53Gln LP/P rs200808744 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073082 p.Leu61Pro LP/P rs1324654414 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073083 p.Phe73Leu LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073084 p.Pro92Thr LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073085 p.Trp97Arg LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073086 p.Gly115Arg LP/P rs755734596 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073087 p.Leu116Pro LP/P rs569846003 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073088 p.Cys120Phe LP/P rs752153829 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073089 p.Cys120Trp LP/P rs149165166 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073090 p.Ala122Val LP/P rs544956641 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073091 p.Gly123Ala LP/P rs374473331 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073092 p.Gly123Arg LP/P rs564979861 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073093 p.Leu137Pro LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073094 p.Gly152Ala LP/P rs1553717936 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073095 p.Pro158Leu LP/P rs375396766 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073096 p.Glu168Asp LP/P rs780173554 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073097 p.Phe169Leu LP/P rs756134838 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073098 p.Lys171Asn LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073099 p.Met172Thr LB/B - - HGD Q93099 VAR_073100 p.Glu178Gly LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073101 p.Gln183Arg LP/P rs1349543050 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073102 p.Arg187Gly LP/P rs756255206 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073103 p.Arg197Gly LP/P rs1414279737 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073104 p.Gly217Trp LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073105 p.Asn219Ser LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073106 p.Arg225Leu LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073107 p.Arg225Pro LP/P rs562853291 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073108 p.Val245Phe LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073109 p.Gln258Pro LP/P rs759843592 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073110 p.His269Arg LP/P rs756522409 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073111 p.Lys276Asn LP/P rs1160502581 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073112 p.Arg321Pro LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073113 p.Phe329Cys LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073114 p.Asn337Asp LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073115 p.Pro359Leu LP/P rs764037565 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073116 p.Gly360Ala LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073117 p.Gly360Arg LP/P rs368717991 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073118 p.Gly361Arg LP/P rs765219004 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073119 p.Gly362Glu LP/P - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073120 p.Thr369Asn LP/P rs765912447 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073121 p.Pro373Leu LP/P rs138558042 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073122 p.Asp374His LP/P rs981454067 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_073123 p.Glu401Gln LP/P rs767159114 Alkaptonuria (AKU) [MIM:203500] HGF P14210 VAR_019199 p.Glu304Lys LB/B rs5745687 - HGF P14210 VAR_019200 p.Asp330Tyr LB/B rs5745688 - HGFAC Q04756 VAR_024294 p.Arg509His LB/B rs16844401 - HGFAC Q04756 VAR_024295 p.Arg644Gln LB/B rs2498323 - HGFAC Q04756 VAR_033651 p.Val225Met LB/B rs16844370 - HGFAC Q04756 VAR_033652 p.Phe231Leu LB/B rs1987546 - HGFAC Q04756 VAR_051851 p.Ala218Ser LB/B rs3748034 - HGS O14964 VAR_052981 p.Glu400Asp LB/B rs34868130 - HGS O14964 VAR_054154 p.Thr7Ser LB/B rs753682847 - HGS O14964 VAR_061991 p.Ala733Ser LB/B rs56058441 - HGSNAT Q68CP4 VAR_030083 p.Pro311Leu LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_030084 p.Arg372Cys LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_030085 p.Gly452Ser LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_030086 p.Glu499Lys LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_030087 p.Met510Lys LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_030088 p.Ser569Leu LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_030089 p.Asp590Val LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_030090 p.Pro599Leu LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063983 p.Cys104Phe LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063984 p.Leu165Pro LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063985 p.Pro265Gln LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063986 p.Ile280Arg LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063987 p.Gly290Arg LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063988 p.Asn301Lys LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063989 p.Arg372His LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063990 p.Trp431Cys LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063991 p.Val509Leu LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063992 p.Gly514Glu LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063993 p.Ala517Glu LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063994 p.Ser546Phe LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063995 p.Lys551Gln LP/P rs73569592 Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063996 p.Ser567Cys LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063997 p.Ala643Thr US rs112029032 Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063997 p.Ala643Thr US rs112029032 Retinitis pigmentosa 73 (RP73) [MIM:616544] HGSNAT Q68CP4 VAR_075812 p.Ala82Val LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_075813 p.Leu141Pro LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_075814 p.Arg152Trp LP/P - Retinitis pigmentosa 73 (RP73) [MIM:616544] HGSNAT Q68CP4 VAR_075815 p.Gly161Ala LP/P - Retinitis pigmentosa 73 (RP73) [MIM:616544] HGSNAT Q68CP4 VAR_075816 p.Gly452Val LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_075817 p.Leu473Pro LP/P - Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] HHAT Q5VTY9 VAR_024743 p.Ser182Asn LB/B rs2294851 - HHAT Q5VTY9 VAR_024744 p.Gly448Glu US rs757163023 A melanoma cell line HHAT Q5VTY9 VAR_024745 p.Asn450Ser US rs147954610 A lung cancer cell line HHAT Q5VTY9 VAR_050024 p.Glu165Gly LB/B rs2228898 - HHAT Q5VTY9 VAR_061336 p.Cys188Arg LB/B rs34228541 - HHAT Q5VTY9 VAR_085239 p.Leu257Pro US - Nivelon-Nivelon-Mabille syndrome (NNMS) [MIM:600092] HHAT Q5VTY9 VAR_085240 p.Gly287Val LP/P - Nivelon-Nivelon-Mabille syndrome (NNMS) [MIM:600092] HHATL Q9HCP6 VAR_014947 p.Met403Val LB/B rs11079 - HHIP Q96QV1 VAR_021518 p.Val341Ile LB/B - - HHIPL1 Q96JK4 VAR_060163 p.Val692Ala LB/B rs7158073 - HHIPL2 Q6UWX4 VAR_053986 p.Val241Met LB/B rs3811466 - HHIPL2 Q6UWX4 VAR_062220 p.His391Asp LB/B rs3748666 - HHIPL2 Q6UWX4 VAR_062221 p.Arg394Gln LB/B rs3748665 - HHIPL2 Q6UWX4 VAR_062222 p.Arg434Leu LB/B rs3748663 - HHLA2 Q9UM44 VAR_027487 p.Ile30Thr LB/B rs6779254 - HHLA2 Q9UM44 VAR_027488 p.Asn344Lys LB/B rs3792332 - HHLA2 Q9UM44 VAR_027489 p.Ser364Arg LB/B rs6779094 - HIBCH Q6NVY1 VAR_031869 p.Thr46Ala LB/B rs1058180 - HIBCH Q6NVY1 VAR_031870 p.Tyr122Cys LP/P rs121918329 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD) [MIM:250620] HIC1 Q14526 VAR_063109 p.Arg725Gly LB/B rs1063317 - HID1 Q8IV36 VAR_087636 p.Gly187Asp US - Developmental and epileptic encephalopathy 105 with hypopituitarism (DEE105) [MIM:619983] HID1 Q8IV36 VAR_087637 p.Arg433Trp US rs994473385 Developmental and epileptic encephalopathy 105 with hypopituitarism (DEE105) [MIM:619983] HID1 Q8IV36 VAR_087638 p.Leu533Pro US - Developmental and epileptic encephalopathy 105 with hypopituitarism (DEE105) [MIM:619983] HIF1A Q16665 VAR_015854 p.Thr796Ala LB/B rs1802821 - HIF1A Q16665 VAR_049541 p.Pro582Ser LB/B rs11549465 - HIF1A Q16665 VAR_049542 p.Ala588Thr LB/B rs11549467 - HIF1AN Q9NWT6 VAR_051028 p.Pro41Ala LB/B rs2295778 - HIF3A Q9Y2N7 VAR_031731 p.Gln343Arg LB/B rs3764609 - HIF3A Q9Y2N7 VAR_031732 p.Phe463Leu LB/B rs7253301 - HIGD1B Q9P298 VAR_049354 p.Ser86Asn LB/B rs1071682 - HIGD1B Q9P298 VAR_049355 p.Asp87Asn LB/B rs2231650 - HIKESHI Q53FT3 VAR_026968 p.Pro47Ala LB/B rs11539213 - HIKESHI Q53FT3 VAR_076411 p.Val54Leu LP/P rs202003795 Leukodystrophy, hypomyelinating, 13 (HLD13) [MIM:616881] HINFP Q9BQA5 VAR_019424 p.Ala493Val LB/B rs100803 - HINFP Q9BQA5 VAR_026547 p.Pro4Ser LB/B rs17850972 - HINFP Q9BQA5 VAR_026548 p.Ser78Cys LB/B rs17850974 - HINFP Q9BQA5 VAR_038793 p.Lys352Arg LB/B rs34118252 - HINT1 P49773 VAR_069212 p.Arg37Pro LP/P rs149782619 Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] HINT1 P49773 VAR_069213 p.His51Arg LP/P rs397514491 Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] HINT1 P49773 VAR_069214 p.Cys84Arg LP/P rs397514489 Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] HINT1 P49773 VAR_069215 p.Gly89Val LP/P rs397514490 Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] HINT1 P49773 VAR_069216 p.Gly93Asp LP/P rs397514493 Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] HINT1 P49773 VAR_069217 p.His112Asn LP/P rs373849532 Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] HINT3 Q9NQE9 VAR_039734 p.Gly36Ala LB/B rs2295005 - HIP1 O00291 VAR_051032 p.Met263Lys LB/B rs17149023 - HIP1R O75146 VAR_020043 p.Val782Met LB/B rs2271051 - HIP1R O75146 VAR_051029 p.Lys404Gln LB/B rs7972242 - HIP1R O75146 VAR_051030 p.Lys516Gln LB/B rs7972242 - HIP1R O75146 VAR_051031 p.Asn943Ser LB/B rs3736414 - HIP1R O75146 VAR_070814 p.Asn345Ser LB/B rs149504879 - HIPK1 Q86Z02 VAR_040546 p.Gly310Cys LB/B rs34335651 - HIPK1 Q86Z02 VAR_046047 p.Leu1165Val LB/B - - HIPK1 Q86Z02 VAR_051626 p.Gln6Arg LB/B rs35324789 - HIPK2 Q9H2X6 VAR_040547 p.Arg792Gln LB/B rs56132157 - HIPK2 Q9H2X6 VAR_040548 p.Arg1027Gln LB/B rs35255718 - HIPK3 Q9H422 VAR_040549 p.Gln142Arg LB/B rs34193811 - HIPK3 Q9H422 VAR_040550 p.Gly170Glu LB/B rs34698015 - HIPK3 Q9H422 VAR_040551 p.Cys191Arg LB/B rs35689361 - HIPK3 Q9H422 VAR_040552 p.Ser500Asn LB/B rs11032229 - HIPK3 Q9H422 VAR_040553 p.Pro729Leu LB/B rs55807239 - HIPK3 Q9H422 VAR_051627 p.Val474Ile LB/B rs266472 - HIPK4 Q8NE63 VAR_030578 p.Arg302Gln LB/B rs11670988 - HIPK4 Q8NE63 VAR_040554 p.Ala106Thr LB/B rs34434715 - HIPK4 Q8NE63 VAR_040555 p.Val171Met LB/B rs55964225 - HIPK4 Q8NE63 VAR_040556 p.Thr381Met LB/B rs55760165 - HIPK4 Q8NE63 VAR_040557 p.Ala386Thr LB/B rs56365273 - HIPK4 Q8NE63 VAR_040558 p.Ser406Arg LB/B rs56094851 - HIPK4 Q8NE63 VAR_040559 p.Gly421Ser LB/B rs56117722 - HIPK4 Q8NE63 VAR_040560 p.Arg481Cys LB/B rs55801979 - HIRIP3 Q9BW71 VAR_028115 p.Gly521Trp LB/B rs11643314 - HIRIP3 Q9BW71 VAR_051033 p.Ala496Val LB/B rs35431046 - HIVEP1 P15822 VAR_057383 p.Thr187Met LB/B rs2228209 - HIVEP1 P15822 VAR_057384 p.Pro362Leu LB/B rs34221818 - HIVEP1 P15822 VAR_057385 p.Thr716Ala LB/B rs2228210 - HIVEP1 P15822 VAR_057386 p.Val828Ile LB/B rs2228218 - HIVEP1 P15822 VAR_057387 p.Ala873Thr LB/B rs6900196 - HIVEP1 P15822 VAR_057388 p.Asn1074Ser LB/B rs2228220 - HIVEP1 P15822 VAR_057389 p.Lys1170Asn LB/B rs34258344 - HIVEP1 P15822 VAR_057390 p.Ala1520Gly LB/B rs2228212 - HIVEP1 P15822 VAR_057391 p.Met1609Ile LB/B rs2228213 - HIVEP1 P15822 VAR_057392 p.Gln1915Arg LB/B rs1126472 - HIVEP1 P15822 VAR_059892 p.Thr2444Met LB/B rs2228214 - HIVEP1 P15822 VAR_059893 p.Ala2692Gly LB/B rs1042054 - HIVEP2 P31629 VAR_052754 p.Arg46Gln LB/B rs17072013 - HIVEP2 P31629 VAR_052755 p.Ala1041Val LB/B rs34875559 - HIVEP2 P31629 VAR_052756 p.Leu1293Ile LB/B rs35675714 - HIVEP2 P31629 VAR_052757 p.Leu1538Pro LB/B rs109836 - HIVEP3 Q5T1R4 VAR_042910 p.Val35Ile LB/B rs2146315 - HIVEP3 Q5T1R4 VAR_042911 p.Val484Met US rs780211835 A colorectal cancer sample HIVEP3 Q5T1R4 VAR_042912 p.His575Arg LB/B rs2810566 - HIVEP3 Q5T1R4 VAR_042913 p.Gln1087His LB/B rs17363472 - HIVEP3 Q5T1R4 VAR_042914 p.Ala2023Pro LB/B rs2483689 - HIVEP3 Q5T1R4 VAR_042915 p.Asp2109Ala LB/B rs2991344 - HIVEP3 Q5T1R4 VAR_042916 p.Gly2272Arg LB/B rs11809423 - HIVEP3 Q5T1R4 VAR_042917 p.Thr2339Ala LB/B rs9439043 - HIVEP3 Q5T1R4 VAR_087891 p.Pro2348Leu LB/B - - HJURP Q8NCD3 VAR_056912 p.Thr4Ala LB/B rs2302154 - HJURP Q8NCD3 VAR_056913 p.Ser548Thr LB/B rs17863822 - HJURP Q8NCD3 VAR_056914 p.Ser549Cys LB/B rs3821238 - HJURP Q8NCD3 VAR_056915 p.Glu568Asp LB/B rs3771333 - HJURP Q8NCD3 VAR_056916 p.Ser691Phe LB/B rs12582 - HJURP Q8NCD3 VAR_057946 p.Glu76Lys LB/B rs2286430 - HJURP Q8NCD3 VAR_057947 p.Arg199Gly LB/B rs3806589 - HJURP Q8NCD3 VAR_057948 p.Ser295Cys LB/B rs3732215 - HJURP Q8NCD3 VAR_057949 p.Glu723Gly LB/B rs10511 - HJV Q6ZVN8 VAR_019617 p.Cys80Arg LP/P rs28940586 Hemochromatosis 2A (HFE2A) [MIM:602390] HJV Q6ZVN8 VAR_019618 p.Ser85Pro LP/P rs1553769752 Hemochromatosis 2A (HFE2A) [MIM:602390] HJV Q6ZVN8 VAR_019619 p.Gly99Arg LP/P rs1553769745 Hemochromatosis 2A (HFE2A) [MIM:602390] HJV Q6ZVN8 VAR_019620 p.Leu101Pro LP/P rs74315327 Hemochromatosis 2A (HFE2A) [MIM:602390] HJV Q6ZVN8 VAR_019621 p.Ala168Asp LP/P rs782125244 Hemochromatosis 2A (HFE2A) [MIM:602390] HJV Q6ZVN8 VAR_019622 p.Phe170Ser LP/P rs1553769659 Hemochromatosis 2A (HFE2A) [MIM:602390] HJV Q6ZVN8 VAR_019623 p.Asp172Glu LP/P rs782708481 Hemochromatosis 2A (HFE2A) [MIM:602390] HJV Q6ZVN8 VAR_019624 p.Trp191Cys LP/P rs1553769634 Hemochromatosis 2A (HFE2A) [MIM:602390] HJV Q6ZVN8 VAR_019625 p.Ser205Arg LP/P rs1553769627 Hemochromatosis 2A (HFE2A) [MIM:602390] HJV Q6ZVN8 VAR_019626 p.Ile222Asn LP/P rs74315325 Hemochromatosis 2A (HFE2A) [MIM:602390] HJV Q6ZVN8 VAR_019627 p.Gly250Val LP/P rs863224819 Hemochromatosis 2A (HFE2A) [MIM:602390] HJV Q6ZVN8 VAR_019628 p.Arg288Trp LP/P rs782493762 Hemochromatosis 2A (HFE2A) [MIM:602390] HJV Q6ZVN8 VAR_019629 p.Gly320Val LP/P rs74315323 Hemochromatosis 2A (HFE2A) [MIM:602390] HJV Q6ZVN8 VAR_019927 p.Cys321Trp LP/P rs121434374 Hemochromatosis 2A (HFE2A) [MIM:602390] HJV Q6ZVN8 VAR_053636 p.Ala310Gly LB/B rs7540883 - HK1 P19367 VAR_009878 p.Leu529Ser LP/P rs137853249 Hexokinase deficiency (HK deficiency) [MIM:235700] HK1 P19367 VAR_023780 p.Thr680Ser LP/P rs398122379 Hexokinase deficiency (HK deficiency) [MIM:235700] HK1 P19367 VAR_023781 p.Leu776Met LB/B rs1054203 - HK1 P19367 VAR_078923 p.Glu847Lys US rs777849213 Retinitis pigmentosa 79 (RP79) [MIM:617460] HK1 P19367 VAR_083222 p.Gly414Glu LP/P rs1064795154 Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547] HK1 P19367 VAR_083223 p.Lys418Glu LP/P rs1564557037 Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547] HK1 P19367 VAR_083224 p.Ser445Leu LP/P rs1064794848 Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547] HK1 P19367 VAR_083225 p.Thr457Met LP/P rs1057517928 Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547] HK2 P52789 VAR_003691 p.Gln142His LB/B rs2229621 - HK2 P52789 VAR_010577 p.Leu148Phe LB/B - - HK2 P52789 VAR_010578 p.Ala314Val LB/B - - HK2 P52789 VAR_010579 p.Arg353Cys LB/B rs61748096 - HK2 P52789 VAR_010580 p.Arg497Gln LB/B rs145124653 - HK2 P52789 VAR_010581 p.Arg775Gln LB/B rs185927605 - HK2 P52789 VAR_010582 p.Arg844Lys LB/B rs2229629 - HK2 P52789 VAR_020504 p.Arg274Cys LB/B rs28363006 - HK2 P52789 VAR_020505 p.Ala314Pro LB/B rs28363015 - HK2 P52789 VAR_020506 p.Thr331Ile LB/B rs28363016 - HK2 P52789 VAR_020507 p.Ala387Ser LB/B rs28363029 - HK2 P52789 VAR_020508 p.Arg801Gln LB/B rs28363057 - HK2 P52789 VAR_020509 p.Asp881Asn LB/B rs28363065 - HK3 P52790 VAR_034004 p.Gly281Arg LB/B rs35610191 - HK3 P52790 VAR_036186 p.Arg480Trp US rs376532514 A colorectal cancer sample HK3 P52790 VAR_036187 p.Ala499Val US rs755546220 A breast cancer sample HKDC1 Q2TB90 VAR_034776 p.Asp54Gly LB/B rs10823320 - HKDC1 Q2TB90 VAR_034777 p.Thr124Ile LB/B rs874556 - HKDC1 Q2TB90 VAR_034778 p.Leu204Pro LB/B rs7899445 - HKDC1 Q2TB90 VAR_034779 p.Trp721Arg LB/B rs1111335 - HKDC1 Q2TB90 VAR_034780 p.Asn917Lys LB/B rs906219 - HKDC1 Q2TB90 VAR_086465 p.Thr58Met US rs142379141 Retinitis pigmentosa 92 (RP92) [MIM:619614] HLA-A P04439 VAR_082315 p.Val3Ile LB/B - - HLA-A P04439 VAR_082316 p.Ala5Pro LB/B - - HLA-A P04439 VAR_082317 p.Leu10Val LB/B - - HLA-A P04439 VAR_082318 p.Ser14Leu LB/B - - HLA-A P04439 VAR_082319 p.Trp23Arg LB/B - - HLA-A P04439 VAR_082320 p.Phe33Ser LB/B rs2075684 - HLA-A P04439 VAR_082321 p.Phe33Thr LB/B - - HLA-A P04439 VAR_082322 p.Phe33Tyr LB/B rs2075684 - HLA-A P04439 VAR_082323 p.Arg41Ser LB/B rs1059423 - HLA-A P04439 VAR_082324 p.Thr55Ser LB/B - - HLA-A P04439 VAR_082325 p.Arg59Gln LB/B - - HLA-A P04439 VAR_082326 p.Gln67Arg LB/B rs41559117 - HLA-A P04439 VAR_082327 p.Arg68Lys LB/B - - HLA-A P04439 VAR_082328 p.Gly80Glu LB/B - - HLA-A P04439 VAR_082329 p.Gly80Arg LB/B rs1059449 - HLA-A P04439 VAR_082330 p.Gln86Glu LB/B - - HLA-A P04439 VAR_082331 p.Gln86Gly LB/B - - HLA-A P04439 VAR_082332 p.Gln86Leu LB/B - - HLA-A P04439 VAR_082333 p.Gln86Arg LB/B - - HLA-A P04439 VAR_082334 p.Glu87Asn LB/B - - HLA-A P04439 VAR_082335 p.Glu87Gln LB/B - - HLA-A P04439 VAR_082336 p.Arg89Gly LB/B rs199474430 - HLA-A P04439 VAR_082337 p.Asn90Lys LB/B rs199474436 - HLA-A P04439 VAR_082338 p.Val91Met LB/B - - HLA-A P04439 VAR_082339 p.Gln94His LB/B rs78306866 - HLA-A P04439 VAR_082340 p.Thr97Ile LB/B rs199474457 - HLA-A P04439 VAR_082341 p.Asp98His LB/B - - HLA-A P04439 VAR_082342 p.Asp98Asn LB/B - - HLA-A P04439 VAR_082343 p.Val100Ala LB/B - - HLA-A P04439 VAR_082344 p.Val100Glu LB/B rs1071742 - HLA-A P04439 VAR_082345 p.Asp101Asn LB/B rs1136688 - HLA-A P04439 VAR_082346 p.Asp101Ser LB/B - - HLA-A P04439 VAR_082348 p.Ala114Asp LB/B rs1136692 - HLA-A P04439 VAR_082349 p.Ile119Leu LB/B rs1071743 - HLA-A P04439 VAR_082350 p.Ile119Val LB/B - - HLA-A P04439 VAR_082351 p.Ile121Met LB/B rs1136695 - HLA-A P04439 VAR_082352 p.Ile121Arg LB/B - - HLA-A P04439 VAR_082353 p.Tyr123Phe LB/B rs1136697 - HLA-A P04439 VAR_082354 p.Ser129Pro LB/B rs1136700 - HLA-A P04439 VAR_082355 p.Gly131Trp LB/B rs1136702 - HLA-A P04439 VAR_082356 p.Phe133Leu LB/B rs1059488 - HLA-A P04439 VAR_082357 p.Arg138Glu LB/B - - HLA-A P04439 VAR_082358 p.Arg138His LB/B - - HLA-A P04439 VAR_082359 p.Arg138Gln LB/B - - HLA-A P04439 VAR_082360 p.Asp140His LB/B - - HLA-A P04439 VAR_082361 p.Asp140Tyr LB/B - - HLA-A P04439 VAR_082362 p.Asn151Lys LB/B rs1059509 - HLA-A P04439 VAR_082363 p.Ile166Thr LB/B rs1059516 - HLA-A P04439 VAR_082364 p.Lys168Gln LB/B - - HLA-A P04439 VAR_082365 p.Arg169His LB/B rs1059520 - HLA-A P04439 VAR_082366 p.Ala173Thr LB/B rs1059526 - HLA-A P04439 VAR_082367 p.Ala174Val LB/B - - HLA-A P04439 VAR_082368 p.His175Arg LB/B - - HLA-A P04439 VAR_082369 p.Glu176Ala LB/B - - HLA-A P04439 VAR_082370 p.Glu176Arg LB/B - - HLA-A P04439 VAR_082371 p.Glu176Val LB/B rs9256983 - HLA-A P04439 VAR_082372 p.Glu176Trp LB/B - - HLA-A P04439 VAR_082373 p.Leu180Gln LB/B - - HLA-A P04439 VAR_082374 p.Leu180Arg LB/B - - HLA-A P04439 VAR_082375 p.Leu180Trp LB/B rs9260156 - HLA-A P04439 VAR_082376 p.Ala182Val LB/B - - HLA-A P04439 VAR_082377 p.Asp185Glu LB/B rs1059542 - HLA-A P04439 VAR_082378 p.Thr187Glu LB/B - - HLA-A P04439 VAR_082379 p.Thr187Arg LB/B - - HLA-A P04439 VAR_082380 p.Glu190Asp LB/B rs879577815 - HLA-A P04439 VAR_082381 p.Trp191Gly LB/B rs3098019 - HLA-A P04439 VAR_082382 p.Tyr195His LB/B - - HLA-A P04439 VAR_082383 p.Pro208Ala LB/B - - HLA-A P04439 VAR_082384 p.Lys210Arg LB/B - - HLA-A P04439 VAR_082385 p.Pro217Ala LB/B - - HLA-A P04439 VAR_082386 p.Ile218Val LB/B - - HLA-A P04439 VAR_082387 p.Gly231Ser LB/B - - HLA-A P04439 VAR_082388 p.Ala269Val LB/B - - HLA-A P04439 VAR_082389 p.Ala270Ser LB/B - - HLA-A P04439 VAR_082390 p.Glu277Lys LB/B - - HLA-A P04439 VAR_082391 p.Glu277Gln LB/B - - HLA-A P04439 VAR_082392 p.Gln279Lys LB/B - - HLA-A P04439 VAR_082393 p.Lys292Glu LB/B - - HLA-A P04439 VAR_082394 p.Leu300Pro LB/B - - HLA-A P04439 VAR_082395 p.Ile306Val LB/B - - HLA-A P04439 VAR_082396 p.Pro307His LB/B - - HLA-A P04439 VAR_082397 p.Ile312Leu LB/B - - HLA-A P04439 VAR_082398 p.Leu318Phe LB/B - - HLA-A P04439 VAR_082399 p.Val321Met LB/B - - HLA-A P04439 VAR_082400 p.Ile322Phe LB/B - - HLA-A P04439 VAR_082401 p.Thr323Ala LB/B - - HLA-A P04439 VAR_082402 p.Met331Arg LB/B - - HLA-A P04439 VAR_082403 p.Arg334Lys LB/B - - HLA-A P04439 VAR_082404 p.Lys335Asn LB/B - - HLA-A P04439 VAR_082405 p.Asp338Val LB/B - - HLA-A P04439 VAR_082406 p.Thr345Ser LB/B - - HLA-A P04439 VAR_082407 p.Val358Met LB/B - - HLA-B P01889 VAR_082483 p.Leu2Arg LB/B rs9266206 - HLA-B P01889 VAR_082484 p.Met4Thr LB/B rs1050458 - HLA-B P01889 VAR_082485 p.Val9Leu LB/B rs1050462 - HLA-B P01889 VAR_082486 p.Ser14Trp LB/B rs1131156 - HLA-B P01889 VAR_082487 p.Ala15Gly LB/B rs1131159 - HLA-B P01889 VAR_082488 p.Leu17Val LB/B rs1131165 - HLA-B P01889 VAR_082489 p.Tyr33Asp LB/B rs2596492 - HLA-B P01889 VAR_082490 p.Tyr33His LB/B rs2596492 - HLA-B P01889 VAR_082491 p.Ser35Ala LB/B rs1131170 - HLA-B P01889 VAR_082492 p.Val36Met LB/B rs1050486 - HLA-B P01889 VAR_082493 p.Ser48Ala LB/B rs713031 - HLA-B P01889 VAR_082494 p.Ser48Thr LB/B rs713031 - HLA-B P01889 VAR_082495 p.Asp54Gly LB/B rs9266183 - HLA-B P01889 VAR_082496 p.Gln56Leu LB/B rs1050518 - HLA-B P01889 VAR_082497 p.Ala65Thr LB/B rs1050529 - HLA-B P01889 VAR_082498 p.Glu69Gly LB/B rs41562914 - HLA-B P01889 VAR_082499 p.Glu69Lys LB/B rs9266178 - HLA-B P01889 VAR_082500 p.Glu69Met LB/B - - HLA-B P01889 VAR_082501 p.Glu69Thr LB/B - - HLA-B P01889 VAR_082502 p.Glu70Ala LB/B rs1050538 - HLA-B P01889 VAR_082503 p.Ile76Val LB/B rs145974360 - HLA-B P01889 VAR_082504 p.Arg86Gly LB/B rs141484466 - HLA-B P01889 VAR_082505 p.Asn87Glu LB/B - - HLA-B P01889 VAR_082506 p.Gln89Arg LB/B rs1131201 - HLA-B P01889 VAR_082507 p.Ile90Lys LB/B - - HLA-B P01889 VAR_082508 p.Ile90Asn LB/B rs1131202 - HLA-B P01889 VAR_082509 p.Tyr91Cys LB/B rs1071816 - HLA-B P01889 VAR_082510 p.Tyr91Phe LB/B rs1071816 - HLA-B P01889 VAR_082511 p.Tyr91Met LB/B - - HLA-B P01889 VAR_082512 p.Tyr91Ser LB/B rs1071816 - HLA-B P01889 VAR_082513 p.Ala93Arg LB/B - - HLA-B P01889 VAR_082514 p.Ala93Thr LB/B rs1131204 - HLA-B P01889 VAR_082515 p.Gln94Lys LB/B rs1071817 - HLA-B P01889 VAR_082516 p.Gln94Asn LB/B - - HLA-B P01889 VAR_082517 p.Gln94Ser LB/B - - HLA-B P01889 VAR_082518 p.Ala95Thr LB/B rs1131213 - HLA-B P01889 VAR_082519 p.Asp98Tyr LB/B rs1131215 - HLA-B P01889 VAR_082520 p.Glu100Val LB/B rs41553715 - HLA-B P01889 VAR_082521 p.Ser101Asp LB/B - - HLA-B P01889 VAR_082522 p.Ser101Gly LB/B rs1131217 - HLA-B P01889 VAR_082523 p.Ser101Asn LB/B rs1050388 - HLA-B P01889 VAR_082524 p.Asn104Ile LB/B rs1131223 - HLA-B P01889 VAR_082525 p.Asn104Thr LB/B rs1131223 - HLA-B P01889 VAR_082526 p.Leu105Ala LB/B - - HLA-B P01889 VAR_082527 p.Arg106Leu LB/B rs3180379 - HLA-B P01889 VAR_082528 p.Gly107Arg LB/B rs3180380 - HLA-B P01889 VAR_082529 p.Ala114Asp LB/B rs41559314 - HLA-B P01889 VAR_082530 p.Thr118Ile LB/B rs12721827 - HLA-B P01889 VAR_082531 p.Leu119Ile LB/B rs12721829 - HLA-B P01889 VAR_082532 p.Leu119Trp LB/B - - HLA-B P01889 VAR_082533 p.Ser121Asn LB/B rs1071652 - HLA-B P01889 VAR_082534 p.Ser121Arg LB/B rs1140412 - HLA-B P01889 VAR_082535 p.Ser121Thr LB/B rs1071652 - HLA-B P01889 VAR_082536 p.Ser121Val LB/B - - HLA-B P01889 VAR_082537 p.Ser121Trp LB/B - - HLA-B P01889 VAR_082538 p.Tyr123Phe LB/B rs151341218 - HLA-B P01889 VAR_082539 p.Tyr123Ser LB/B rs151341218 - HLA-B P01889 VAR_082540 p.Val127Leu LB/B rs1131112 - HLA-B P01889 VAR_082541 p.Val127Met LB/B rs1131112 - HLA-B P01889 VAR_082542 p.His137Tyr LB/B rs1050379 - HLA-B P01889 VAR_082543 p.Asp138His LB/B rs709055 - HLA-B P01889 VAR_082544 p.Asp138Asn LB/B rs709055 - HLA-B P01889 VAR_082545 p.Tyr140Asp LB/B rs9266150 - HLA-B P01889 VAR_082546 p.Tyr140Phe LB/B rs4997052 - HLA-B P01889 VAR_082547 p.Tyr140Leu LB/B rs796516815 - HLA-B P01889 VAR_082548 p.Tyr140Ser LB/B rs4997052 - HLA-B P01889 VAR_082549 p.Arg155Ser LB/B rs1050654 - HLA-B P01889 VAR_082550 p.Thr167Ser LB/B rs41541519 - HLA-B P01889 VAR_082551 p.Arg169Leu LB/B rs12697943 - HLA-B P01889 VAR_082552 p.Trp171Leu LB/B rs41551018 - HLA-B P01889 VAR_082553 p.Glu176Val LB/B rs151341293 - HLA-B P01889 VAR_082554 p.Arg180Asp LB/B rs1203316963 - HLA-B P01889 VAR_082555 p.Arg180Leu LB/B rs697742 - HLA-B P01889 VAR_082556 p.Arg180Trp LB/B rs9266144 - HLA-B P01889 VAR_082557 p.Ala182Thr LB/B rs1050683 - HLA-B P01889 VAR_082558 p.Gly186Asp LB/B rs41543920 - HLA-B P01889 VAR_082559 p.Glu187Leu LB/B rs796093434 - HLA-B P01889 VAR_082560 p.Glu187Thr LB/B rs796093434 - HLA-B P01889 VAR_082561 p.Trp191Ser LB/B rs1050692 - HLA-B P01889 VAR_082562 p.Tyr195His LB/B rs1050696 - HLA-B P01889 VAR_082563 p.Asp201Glu LB/B rs1131275 - HLA-B P01889 VAR_082564 p.Lys202Thr LB/B rs1131279 - HLA-B P01889 VAR_082565 p.Glu204Gln LB/B rs1131285 - HLA-B P01889 VAR_082566 p.Ile218Val LB/B rs1050341 - HLA-B P01889 VAR_082567 p.Ala223Val LB/B rs1050723 - HLA-B P01889 VAR_082568 p.Arg263Gly LB/B rs41545916 - HLA-B P01889 VAR_082569 p.Ala269Thr LB/B rs2308488 - HLA-B P01889 VAR_082570 p.Glu277Gln LB/B rs41542113 - HLA-B P01889 VAR_082571 p.Pro291Gln LB/B rs1611623 - HLA-B P01889 VAR_082572 p.Lys292Glu LB/B rs41541515 - HLA-B P01889 VAR_082573 p.Leu294Cys LB/B - - HLA-B P01889 VAR_082574 p.Glu299Lys LB/B rs2308500 - HLA-B P01889 VAR_082575 p.Val306Ile LB/B rs1131500 - HLA-B P01889 VAR_082577 p.Ala329Thr LB/B rs1051488 - HLA-B P01889 VAR_082578 p.Met331Val LB/B rs41548215 - HLA-B P01889 VAR_082579 p.Cys349Ser LB/B rs2308655 - HLA-C P10321 VAR_082408 p.Arg7Gln LB/B rs41548123 - HLA-C P10321 VAR_082409 p.Ala8Thr LB/B rs2308525 - HLA-C P10321 VAR_082410 p.Leu10Ile LB/B rs2308527 - HLA-C P10321 VAR_082411 p.Gly16Ala LB/B rs1050451 - HLA-C P10321 VAR_082412 p.Thr20Ile LB/B rs41549413 - HLA-C P10321 VAR_082413 p.Cys25Gly LB/B rs2074493 - HLA-C P10321 VAR_082414 p.Arg30Lys LB/B rs1131151 - HLA-C P10321 VAR_082415 p.Asp33Phe LB/B - - HLA-C P10321 VAR_082416 p.Asp33Ser LB/B - - HLA-C P10321 VAR_082417 p.Asp33Tyr LB/B rs9264668 - HLA-C P10321 VAR_082418 p.Ala35Ser LB/B rs1050445 - HLA-C P10321 VAR_082419 p.Arg38Trp LB/B rs41542423 - HLA-C P10321 VAR_082420 p.Gly40Ser LB/B rs151341100 - HLA-C P10321 VAR_082421 p.Arg45His LB/B rs1050437 - HLA-C P10321 VAR_082422 p.Ser48Ala LB/B rs707911 - HLA-C P10321 VAR_082423 p.Arg59Gln LB/B rs1050428 - HLA-C P10321 VAR_082424 p.Ala73Glu LB/B rs1050409 - HLA-C P10321 VAR_082425 p.Lys90Asn LB/B rs28626310 - HLA-C P10321 VAR_082426 p.Ala97Thr LB/B rs41543814 - HLA-C P10321 VAR_082427 p.Ser101Asn LB/B rs2308557 - HLA-C P10321 VAR_082428 p.Asn104Lys LB/B rs17408553 - HLA-C P10321 VAR_082429 p.Asp114Ala LB/B rs1131123 - HLA-C P10321 VAR_082430 p.Thr118Ile LB/B rs1131119 - HLA-C P10321 VAR_082431 p.Leu119Phe LB/B rs1071649 - HLA-C P10321 VAR_082432 p.Leu119Ile LB/B rs1071649 - HLA-C P10321 VAR_082433 p.Arg121Trp LB/B rs1131118 - HLA-C P10321 VAR_082434 p.Ser123Cys LB/B rs1131115 - HLA-C P10321 VAR_082435 p.Ser123Phe LB/B rs1131115 - HLA-C P10321 VAR_082436 p.Ser123Tyr LB/B rs1131115 - HLA-C P10321 VAR_082437 p.Leu127Val LB/B rs34592426 - HLA-C P10321 VAR_082438 p.Tyr137His LB/B rs2308574 - HLA-C P10321 VAR_082439 p.Asp138Asn LB/B rs2308575 - HLA-C P10321 VAR_082440 p.Ser140Phe LB/B rs713032 - HLA-C P10321 VAR_082441 p.Ser140Leu LB/B - - HLA-C P10321 VAR_082442 p.Ser140Tyr LB/B rs713032 - HLA-C P10321 VAR_082443 p.Thr162Lys LB/B - - HLA-C P10321 VAR_082444 p.Thr167Ser LB/B rs142570222 - HLA-C P10321 VAR_082445 p.Leu171Trp LB/B rs1050366 - HLA-C P10321 VAR_082446 p.Ala176Glu LB/B rs2308590 - HLA-C P10321 VAR_082447 p.Ala176Thr LB/B rs41552817 - HLA-C P10321 VAR_082448 p.Leu180Asp LB/B - - HLA-C P10321 VAR_082449 p.Leu180Gln LB/B rs2308592 - HLA-C P10321 VAR_082450 p.Leu180Arg LB/B rs2308592 - HLA-C P10321 VAR_082451 p.Leu180Trp LB/B rs796925732 - HLA-C P10321 VAR_082452 p.Thr187Glu LB/B - - HLA-C P10321 VAR_082453 p.Thr187Leu LB/B - - HLA-C P10321 VAR_082454 p.Arg194Gly LB/B rs2308598 - HLA-C P10321 VAR_082455 p.Glu197Lys LB/B rs1050357 - HLA-C P10321 VAR_082456 p.Glu201Lys LB/B rs1131103 - HLA-C P10321 VAR_082457 p.Pro208His LB/B rs1131096 - HLA-C P10321 VAR_082458 p.Pro208Arg LB/B rs1131096 - HLA-C P10321 VAR_082459 p.Pro217Leu LB/B rs1050343 - HLA-C P10321 VAR_082460 p.Leu218Val LB/B rs1050716 - HLA-C P10321 VAR_082461 p.Ala235Thr LB/B rs41562012 - HLA-C P10321 VAR_082462 p.Arg243Trp LB/B rs1050328 - HLA-C P10321 VAR_082463 p.Val272Met LB/B rs1050276 - HLA-C P10321 VAR_082464 p.Gln277Glu LB/B rs707908 - HLA-C P10321 VAR_082465 p.Met285Val LB/B rs2308622 - HLA-C P10321 VAR_082466 p.Gln291Pro LB/B rs1131015 - HLA-C P10321 VAR_082467 p.Leu294Cys LB/B rs1211800658 - HLA-C P10321 VAR_082468 p.Ser297Arg LB/B rs2308628 - HLA-C P10321 VAR_082469 p.Glu299Gly LB/B - - HLA-C P10321 VAR_082470 p.Glu299Lys LB/B rs41556321 - HLA-C P10321 VAR_082472 p.Met309Val LB/B rs1050180 - HLA-C P10321 VAR_082473 p.Val319Ala LB/B rs1050147 - HLA-C P10321 VAR_082474 p.Val327Met LB/B rs146911342 - HLA-C P10321 VAR_082475 p.Val328Met LB/B - - HLA-C P10321 VAR_082476 p.Thr329Ala LB/B rs1130947 - HLA-C P10321 VAR_082477 p.Ala330Val LB/B rs1050105 - HLA-C P10321 VAR_082478 p.Met331Val LB/B rs1130935 - HLA-C P10321 VAR_082479 p.Met332Ile LB/B rs41540416 - HLA-C P10321 VAR_082480 p.Cys333His LB/B - - HLA-C P10321 VAR_082481 p.Cys350Ser LB/B rs3177824 - HLA-C P10321 VAR_082482 p.Thr363Ala LB/B rs1130838 - HLA-DMA P28067 VAR_016746 p.His162Gln LB/B - - HLA-DMA P28067 VAR_016747 p.Asp163His LB/B - - HLA-DMA P28067 VAR_016748 p.Val166Ile LB/B rs1063478 - HLA-DMA P28067 VAR_016749 p.Gly181Ala LB/B rs6926628 - HLA-DMA P28067 VAR_016750 p.Arg210Cys LB/B rs17214044 - HLA-DMA P28067 VAR_016751 p.Arg210His LB/B rs41555121 - HLA-DMA P28067 VAR_056544 p.Val235Met LB/B rs9469319 - HLA-DMB P28068 VAR_016752 p.Ser45Phe LB/B rs41560814 - HLA-DMB P28068 VAR_016753 p.Ala162Glu LB/B rs2071555 - HLA-DMB P28068 VAR_016754 p.Ala162Val LB/B rs2071555 - HLA-DMB P28068 VAR_016755 p.Thr197Ile LB/B rs1042337 - HLA-DMB P28068 VAR_050360 p.Thr28Ala LB/B rs17583782 - HLA-DMB P28068 VAR_050361 p.Asp49Val LB/B rs17617333 - HLA-DMB P28068 VAR_050362 p.Ser71Asn LB/B rs17617321 - HLA-DOA P06340 VAR_058126 p.Leu99Val LB/B rs41542323 - HLA-DOA P06340 VAR_058127 p.Arg105Cys LB/B rs11575906 - HLA-DOB P13765 VAR_016743 p.Arg18Gln LB/B rs2071554 - HLA-DOB P13765 VAR_016744 p.Val244Ile LB/B rs2621330 - HLA-DOB P13765 VAR_016745 p.Leu234Phe LB/B rs2070121 - HLA-DOB P13765 VAR_050363 p.Val210Ile LB/B rs11575907 - HLA-DPA1 P20036 VAR_047683 p.Ala42Thr LB/B rs1126533 - HLA-DPA1 P20036 VAR_047684 p.Ala42Val LB/B rs1126534 - HLA-DPA1 P20036 VAR_047685 p.Met62Leu LB/B rs2308911 - HLA-DPA1 P20036 VAR_047686 p.Gln81Arg LB/B rs1042178 - HLA-DPA1 P20036 VAR_047687 p.Leu97Ser LB/B rs2308917 - HLA-DPA1 P20036 VAR_047688 p.Thr114Ala LB/B rs1126542 - HLA-DPA1 P20036 VAR_047689 p.Lys142Arg LB/B rs1042190 - HLA-DPA1 P20036 VAR_047690 p.Phe191Val LB/B rs1042308 - HLA-DPA1 P20036 VAR_058832 p.Ala42Met LB/B rs386699859 - HLA-DPA1 P20036 VAR_058833 p.Pro49Thr LB/B rs2308907 - HLA-DPA1 P20036 VAR_058834 p.Met54Thr LB/B rs1042175 - HLA-DPA1 P20036 VAR_058835 p.Glu59Asp LB/B rs2308910 - HLA-DPA1 P20036 VAR_058836 p.Met62Lys LB/B rs2308912 - HLA-DPA1 P20036 VAR_058837 p.Trp74Cys LB/B rs72558171 - HLA-DPA1 P20036 VAR_058838 p.Ala82Thr LB/B rs41543112 - HLA-DPA1 P20036 VAR_058839 p.Asn100Asp LB/B rs61759929 - HLA-DPA1 P20036 VAR_058840 p.Thr103Ile LB/B rs41559316 - HLA-DPA1 P20036 VAR_058841 p.Leu104Ala LB/B - - HLA-DPA1 P20036 VAR_058842 p.Pro127Ala LB/B rs41562016 - HLA-DPA1 P20036 VAR_058843 p.Leu158Pro LB/B rs2308930 - HLA-DPA1 P20036 VAR_058844 p.Thr221Ala LB/B rs17509489 - HLA-DPA1 P20036 VAR_058845 p.Thr259Pro LB/B rs1126769 - HLA-DPA1 P20036 VAR_058850 p.Met62Gln LB/B rs36013091 - HLA-DPB1 P04440 VAR_033433 p.Phe38Tyr LB/B rs1126509 - HLA-DPB1 P04440 VAR_033434 p.Gly40Val LB/B rs1126513 - HLA-DPB1 P04440 VAR_033435 p.Glu62Gln LB/B rs12722018 - HLA-DPB1 P04440 VAR_033436 p.Phe64Tyr LB/B rs1042117 - HLA-DPB1 P04440 VAR_033437 p.Ala65Val LB/B rs1042121 - HLA-DPB1 P04440 VAR_033438 p.Ala85Glu LB/B rs1042131 - HLA-DPB1 P04440 VAR_033439 p.Glu86Asp LB/B rs1042133 - HLA-DPB1 P04440 VAR_033440 p.Lys98Glu LB/B rs1042140 - HLA-DPB1 P04440 VAR_033441 p.Lys98Arg LB/B rs12722027 - HLA-DPB1 P04440 VAR_033442 p.Met105Val LB/B rs1042151 - HLA-DPB1 P04440 VAR_033443 p.Met105Ile LB/B rs1042153 - HLA-DPB1 P04440 VAR_033444 p.Gly114Glu LB/B rs9277354 - HLA-DPB1 P04440 VAR_033445 p.Pro115Ala LB/B rs9277355 - HLA-DPB1 P04440 VAR_033446 p.Met116Val LB/B rs9277356 - HLA-DPB1 P04440 VAR_033447 p.Leu207Met LB/B rs14362 - HLA-DPB1 P04440 VAR_033448 p.Ile244Thr LB/B rs3097675 - HLA-DPB1 P04440 VAR_050393 p.Arg223Gln LB/B rs9276 - HLA-DPB1 P04440 VAR_050394 p.Val234Met LB/B rs11551421 - HLA-DPB1 P04440 VAR_054662 p.Ala84Asp LB/B rs707958 - HLA-DPB1 P04440 VAR_059511 p.Ala84Val LB/B rs707958 - HLA-DPB1 P04440 VAR_059512 p.Ile94Phe LB/B rs1042136 - HLA-DPB1 P04440 VAR_059513 p.Ile94Leu LB/B rs1042136 - HLA-DPB1 P04440 VAR_060627 p.Thr16Met LB/B rs41558014 - HLA-DPB1 P04440 VAR_060628 p.Thr24Ile LB/B rs11551416 - HLA-DPB1 P04440 VAR_060629 p.Arg30Pro LB/B - - HLA-DPB1 P04440 VAR_060630 p.Ala31Leu LB/B - - HLA-DPB1 P04440 VAR_060631 p.Thr32Pro LB/B - - HLA-DPB1 P04440 VAR_060632 p.Pro33Ala LB/B - - HLA-DPB1 P04440 VAR_060633 p.Leu37Val LB/B rs1126504 - HLA-DPB1 P04440 VAR_060634 p.Phe38His LB/B - - HLA-DPB1 P04440 VAR_060635 p.Phe38Asp LB/B - - HLA-DPB1 P04440 VAR_060636 p.Phe38Leu LB/B rs12722013 - HLA-DPB1 P04440 VAR_060637 p.Gly40Leu LB/B rs386699869 - HLA-DPB1 P04440 VAR_060638 p.Arg41Leu LB/B rs41540313 - HLA-DPB1 P04440 VAR_060639 p.Cys44Gly LB/B rs1424116907 - HLA-DPB1 P04440 VAR_060640 p.Ala46Pro LB/B rs41555313 - HLA-DPB1 P04440 VAR_060641 p.Ala46Thr LB/B rs41555313 - HLA-DPB1 P04440 VAR_060642 p.Tyr57Asp LB/B rs41553416 - HLA-DPB1 P04440 VAR_060643 p.Arg61Pro LB/B rs41561114 - HLA-DPB1 P04440 VAR_060644 p.Phe64Leu LB/B rs9277348 - HLA-DPB1 P04440 VAR_060645 p.Asp68Tyr LB/B rs77062860 - HLA-DPB1 P04440 VAR_060646 p.Gly72Trp LB/B rs41552915 - HLA-DPB1 P04440 VAR_060647 p.Ala84Glu LB/B rs386699870 - HLA-DPB1 P04440 VAR_060648 p.Glu86Val LB/B rs41545212 - HLA-DPB1 P04440 VAR_060649 p.Asn89His LB/B rs41550319 - HLA-DPB1 P04440 VAR_060650 p.Asp93His LB/B rs41560812 - HLA-DPB1 P04440 VAR_060651 p.Ile94Asn LB/B rs41547212 - HLA-DPB1 P04440 VAR_060652 p.Arg99Trp LB/B rs41554314 - HLA-DPB1 P04440 VAR_060653 p.Val101Leu LB/B rs41546618 - HLA-DPB1 P04440 VAR_060654 p.Pro102Leu LB/B rs41551920 - HLA-DPB1 P04440 VAR_060655 p.Gly113Asn LB/B - - HLA-DPB1 P04440 VAR_060656 p.Gly113Val LB/B rs1042169 - HLA-DPB1 P04440 VAR_060657 p.Gly113Asp LB/B rs1042169 - HLA-DPB1 P04440 VAR_060658 p.Arg120His LB/B rs41541915 - HLA-DPB1 P04440 VAR_060659 p.Arg125Lys LB/B rs1126537 - HLA-DPB1 P04440 VAR_060660 p.Thr199Ile LB/B rs1042335 - HLA-DQA1 P01909 VAR_014604 p.Gln57Glu LB/B rs10093 - HLA-DQA1 P01909 VAR_033399 p.Met8Leu LB/B rs1047989 - HLA-DQA1 P01909 VAR_033400 p.Ala11Thr LB/B rs1047992 - HLA-DQA1 P01909 VAR_033401 p.Ser41Phe LB/B rs1071630 - HLA-DQA1 P01909 VAR_033402 p.Tyr48Phe LB/B rs12722051 - HLA-DQA1 P01909 VAR_033403 p.Thr49Ser LB/B rs1048023 - HLA-DQA1 P01909 VAR_033404 p.Cys70Tyr LB/B rs3207983 - HLA-DQA1 P01909 VAR_033405 p.Val73Leu LB/B rs12722061 - HLA-DQA1 P01909 VAR_033406 p.Val73Asp LB/B rs760671632 - HLA-DQA1 P01909 VAR_033408 p.Thr86Arg LB/B rs1142333 - HLA-DQA1 P01909 VAR_033409 p.Ile88Met LB/B rs1142334 - HLA-DQA1 P01909 VAR_033411 p.Val229Met LB/B rs9260 - HLA-DQA1 P01909 VAR_033412 p.Phe237Leu LB/B rs1048430 - HLA-DQA1 P01909 VAR_033413 p.Arg240Gln LB/B rs1048439 - HLA-DQA1 P01909 VAR_050380 p.Val17Met LB/B rs12722039 - HLA-DQA1 P01909 VAR_050381 p.Met18Thr LB/B rs11545686 - HLA-DQA1 P01909 VAR_050382 p.Asp25Gly LB/B rs12722042 - HLA-DQA1 P01909 VAR_050383 p.Arg64Lys LB/B rs36219699 - HLA-DQA1 P01909 VAR_050384 p.Ser102Tyr LB/B rs1129808 - HLA-DQA1 P01909 VAR_050385 p.Ile129Thr LB/B rs707952 - HLA-DQA1 P01909 VAR_050386 p.His151Gln LB/B rs707950 - HLA-DQA1 P01909 VAR_050387 p.Ala209Thr LB/B rs9272785 - HLA-DQA1 P01909 VAR_050388 p.Ala221Thr LB/B rs35087390 - HLA-DQA1 P01909 VAR_060493 p.Glu24Lys LB/B rs41545012 - HLA-DQA1 P01909 VAR_060494 p.Tyr34Cys LB/B rs1129740 - HLA-DQA1 P01909 VAR_060495 p.Pro44Leu LB/B rs41549715 - HLA-DQA1 P01909 VAR_060496 p.Gly63Glu LB/B rs1142323 - HLA-DQA1 P01909 VAR_060497 p.Thr67Ala LB/B rs41543221 - HLA-DQA1 P01909 VAR_060498 p.Val68Ala LB/B rs1142324 - HLA-DQA1 P01909 VAR_060499 p.Cys70Lys LB/B - - HLA-DQA1 P01909 VAR_060500 p.Cys70Gln LB/B - - HLA-DQA1 P01909 VAR_060501 p.Cys70Arg LB/B rs1142326 - HLA-DQA1 P01909 VAR_060502 p.Leu71Trp LB/B rs1142328 - HLA-DQA1 P01909 VAR_060503 p.Val73Glu LB/B rs3208105 - HLA-DQA1 P01909 VAR_060504 p.Leu74Phe LB/B rs9272698 - HLA-DQA1 P01909 VAR_060505 p.Arg75His LB/B rs28383449 - HLA-DQA1 P01909 VAR_060506 p.Arg75Ser LB/B rs9272699 - HLA-DQA1 P01909 VAR_060507 p.Gln76Lys LB/B rs1048052 - HLA-DQA1 P01909 VAR_060508 p.Gln76Arg LB/B rs12722069 - HLA-DQA1 P01909 VAR_060509 p.Phe77Leu LB/B rs3188043 - HLA-DQA1 P01909 VAR_060512 p.Pro81Arg LB/B rs41541412 - HLA-DQA1 P01909 VAR_060513 p.Phe83Gly LB/B - - HLA-DQA1 P01909 VAR_060514 p.Leu91Ala LB/B - - HLA-DQA1 P01909 VAR_060515 p.Leu91Thr LB/B - - HLA-DQA1 P01909 VAR_060516 p.Ser97Ile LB/B rs9279910 - HLA-DQA1 P01909 VAR_060517 p.Leu98Met LB/B rs1064944 - HLA-DQA1 P01909 VAR_060518 p.Leu98Val LB/B rs1064944 - HLA-DQA1 P01909 VAR_060519 p.Arg101Cys LB/B rs41542116 - HLA-DQA1 P01909 VAR_060520 p.Leu124Val LB/B rs41555012 - HLA-DQA1 P01909 VAR_060521 p.Ser152Ala LB/B rs41547417 - HLA-DQA1 P01909 VAR_060522 p.Thr160Ile LB/B rs41545514 - HLA-DQA1 P01909 VAR_060523 p.Ser161Arg LB/B rs41552014 - HLA-DQA1 P01909 VAR_060524 p.Ser161Ile LB/B rs41544114 - HLA-DQA1 P01909 VAR_060525 p.Tyr175His LB/B rs41550317 - HLA-DQA1 P01909 VAR_060526 p.Leu178Phe LB/B rs707949 - HLA-DQA1 P01909 VAR_060527 p.Ala182Asp LB/B rs7990 - HLA-DQA1 P01909 VAR_060528 p.Ala182Ser LB/B rs41561312 - HLA-DQA1 P01909 VAR_060529 p.Glu183Asp LB/B rs707963 - HLA-DQA1 P01909 VAR_060530 p.Ser185Ile LB/B rs707962 - HLA-DQA1 P01909 VAR_060531 p.Lys197Glu LB/B rs2308891 - HLA-DQA1 P01909 VAR_060532 p.Lys197Gln LB/B rs2308891 - HLA-DQA1 P01909 VAR_060533 p.Gly230Cys LB/B rs41545416 - HLA-DQA2 P01906 VAR_033431 p.Val227Ala LB/B rs9276436 - HLA-DQA2 P01906 VAR_050392 p.Gly247Asp LB/B rs2071800 - HLA-DQB1 P01920 VAR_056570 p.Ala6Ser LB/B rs1049056 - HLA-DQB1 P01920 VAR_056571 p.Val148Ile LB/B rs1049100 - HLA-DQB1 P01920 VAR_056572 p.Glu194Asp LB/B rs9273952 - HLA-DQB1 P01920 VAR_059522 p.Pro197Leu LB/B rs9273948 - HLA-DQB1 P01920 VAR_061472 p.Ala45Gly LB/B rs1130375 - HLA-DQB1 P01920 VAR_061473 p.Met46Leu LB/B rs1130368 - HLA-DQB1 P01920 VAR_061474 p.Gln256Arg LB/B rs1130432 - HLA-DQB1 P01920 VAR_062679 p.Gly12Asp LB/B rs1049057 - HLA-DQB1 P01920 VAR_062680 p.Ala15Val LB/B rs3189152 - HLA-DQB1 P01920 VAR_062681 p.Ala23Ser LB/B rs3891176 - HLA-DQB1 P01920 VAR_062682 p.Met24Ile LB/B rs1049059 - HLA-DQB1 P01920 VAR_062683 p.Thr27Ala LB/B rs1049060 - HLA-DQB1 P01920 VAR_062684 p.Thr27Ser LB/B rs1049060 - HLA-DQB1 P01920 VAR_062685 p.Pro28Leu LB/B rs1049062 - HLA-DQB1 P01920 VAR_062686 p.Pro28Ser LB/B rs1049061 - HLA-DQB1 P01920 VAR_062687 p.Val29Leu LB/B rs1130366 - HLA-DQB1 P01920 VAR_062688 p.Ser35Pro LB/B rs12722106 - HLA-DQB1 P01920 VAR_062689 p.Tyr41Phe LB/B rs9274407 - HLA-DQB1 P01920 VAR_062690 p.Tyr41Leu LB/B - - HLA-DQB1 P01920 VAR_062691 p.Phe43Leu LB/B rs56173496 - HLA-DQB1 P01920 VAR_062692 p.Arg55Leu LB/B rs41540813 - HLA-DQB1 P01920 VAR_062693 p.Tyr58Gly LB/B - - HLA-DQB1 P01920 VAR_062694 p.Tyr58Leu LB/B rs766817072 - HLA-DQB1 P01920 VAR_062695 p.Val59Leu LB/B rs41563539 - HLA-DQB1 P01920 VAR_062696 p.Thr60Ser LB/B rs9274405 - HLA-DQB1 P01920 VAR_062697 p.Tyr62His LB/B rs281862065 - HLA-DQB1 P01920 VAR_062698 p.Tyr62Ser LB/B - - HLA-DQB1 P01920 VAR_062699 p.Tyr69Asp LB/B rs281874782 - HLA-DQB1 P01920 VAR_062700 p.Tyr69Ile LB/B - - HLA-DQB1 P01920 VAR_062701 p.Ala70Thr LB/B rs45519640 - HLA-DQB1 P01920 VAR_062702 p.Ala70Val LB/B rs1063318 - HLA-DQB1 P01920 VAR_062703 p.Glu77Gly LB/B rs1049083 - HLA-DQB1 P01920 VAR_062704 p.Val78Glu LB/B rs9274398 - HLA-DQB1 P01920 VAR_062705 p.Tyr79Phe LB/B rs9274397 - HLA-DQB1 P01920 VAR_062706 p.Ala81Val LB/B rs41558214 - HLA-DQB1 P01920 VAR_062707 p.Pro84Leu LB/B rs9274395 - HLA-DQB1 P01920 VAR_062708 p.Leu85Gln LB/B rs1140313 - HLA-DQB1 P01920 VAR_062709 p.Pro87Leu LB/B rs1130380 - HLA-DQB1 P01920 VAR_062710 p.Pro87Gln LB/B rs1130380 - HLA-DQB1 P01920 VAR_062711 p.Pro87Arg LB/B rs1130380 - HLA-DQB1 P01920 VAR_062712 p.Pro88Leu LB/B rs1130381 - HLA-DQB1 P01920 VAR_062713 p.Asp89Ala LB/B rs1071637 - HLA-DQB1 P01920 VAR_062714 p.Asp89Ser LB/B - - HLA-DQB1 P01920 VAR_062715 p.Asp89Val LB/B rs1071637 - HLA-DQB1 P01920 VAR_062716 p.Tyr92Asn LB/B rs41562414 - HLA-DQB1 P01920 VAR_062717 p.Asn94Lys LB/B rs1130382 - HLA-DQB1 P01920 VAR_062718 p.Ser95Arg LB/B rs41556215 - HLA-DQB1 P01920 VAR_062719 p.Glu98Asp LB/B rs9274390 - HLA-DQB1 P01920 VAR_062720 p.Val99Asp LB/B rs41563814 - HLA-DQB1 P01920 VAR_062721 p.Val99Ile LB/B rs9274390 - HLA-DQB1 P01920 VAR_062722 p.Arg102Glu LB/B - - HLA-DQB1 P01920 VAR_062723 p.Arg102Gly LB/B rs1130386 - HLA-DQB1 P01920 VAR_062724 p.Thr103Ala LB/B rs1130390 - HLA-DQB1 P01920 VAR_062725 p.Thr103Asp LB/B - - HLA-DQB1 P01920 VAR_062726 p.Thr103Lys LB/B - - HLA-DQB1 P01920 VAR_062727 p.Glu106Ala LB/B rs1130387 - HLA-DQB1 P01920 VAR_062728 p.Glu106Ser LB/B - - HLA-DQB1 P01920 VAR_062729 p.Leu107Val LB/B rs9274384 - HLA-DQB1 P01920 VAR_062730 p.Thr109Arg LB/B rs1130392 - HLA-DQB1 P01920 VAR_062731 p.Gln116Glu LB/B rs1140316 - HLA-DQB1 P01920 VAR_062732 p.Leu117Val LB/B rs1140317 - HLA-DQB1 P01920 VAR_062733 p.Glu118Ala LB/B rs9274380 - HLA-DQB1 P01920 VAR_062734 p.Glu118Gly LB/B rs9274380 - HLA-DQB1 P01920 VAR_062735 p.Leu119Phe LB/B rs9274379 - HLA-DQB1 P01920 VAR_062736 p.Leu119Tyr LB/B - - HLA-DQB1 P01920 VAR_062737 p.Thr121Gly LB/B - - HLA-DQB1 P01920 VAR_062738 p.Thr122Ile LB/B rs1140320 - HLA-DQB1 P01920 VAR_062739 p.Ala157Gly LB/B rs1063322 - HLA-DQB1 P01920 VAR_062740 p.Ala157Ser LB/B - - HLA-DQB1 P01920 VAR_062741 p.Gln158His LB/B rs41542812 - HLA-DQB1 P01920 VAR_062742 p.Arg162Gln LB/B rs41544112 - HLA-DQB1 P01920 VAR_062743 p.Arg165Trp LB/B rs63626961 - HLA-DQB1 P01920 VAR_062744 p.Arg165Gln LB/B rs9273989 - HLA-DQB1 P01920 VAR_062745 p.Asp167Gly LB/B rs2647032 - HLA-DQB1 P01920 VAR_062746 p.Gln168Glu LB/B rs9273981 - HLA-DQB1 P01920 VAR_062747 p.Thr172Ala LB/B rs1063323 - HLA-DQB1 P01920 VAR_062748 p.His199Arg LB/B rs701564 - HLA-DQB1 P01920 VAR_062750 p.Val202Ile LB/B rs80255621 - HLA-DQB1 P01920 VAR_062751 p.Asn214Ser LB/B rs1130398 - HLA-DQB1 P01920 VAR_062752 p.Thr217Ile LB/B rs1130399 - HLA-DQB1 P01920 VAR_062753 p.Val218Ala LB/B rs281864132 - HLA-DQB1 P01920 VAR_062754 p.Ser229Asn LB/B rs1130429 - HLA-DQB1 P01920 VAR_062755 p.Ile235Val LB/B rs1049163 - HLA-DQB1 P01920 VAR_062756 p.His252Arg LB/B rs1140342 - HLA-DQB1 P01920 VAR_062757 p.His253Gln LB/B rs1140343 - HLA-DQB2 P05538 VAR_069445 p.Arg161Gln LB/B rs1049110 - HLA-DQB2 P05538 VAR_069446 p.Ser232Gly LB/B - - HLA-DQB2 P05538 VAR_069447 p.Ile234Val LB/B - - HLA-DRA P01903 VAR_004399 p.Leu242Val LB/B rs7192 - HLA-DRA P01903 VAR_035241 p.Val16Leu LB/B rs16822586 - HLA-DRB1 P01911 VAR_082703 p.Lys5Arg LB/B rs707953 - HLA-DRB1 P01911 VAR_082704 p.Leu6Phe LB/B rs17879020 - HLA-DRB1 P01911 VAR_082705 p.Thr13Ala LB/B rs9270303 - HLA-DRB1 P01911 VAR_082706 p.Ala14Val LB/B rs9270302 - HLA-DRB1 P01911 VAR_082707 p.Ser29Ala LB/B rs9270299 - HLA-DRB1 P01911 VAR_082708 p.Arg33Gln LB/B rs17879746 - HLA-DRB1 P01911 VAR_082709 p.Trp38Glu LB/B - - HLA-DRB1 P01911 VAR_082710 p.Trp38Lys LB/B - - HLA-DRB1 P01911 VAR_082711 p.Gln39Glu LB/B rs9269957 - HLA-DRB1 P01911 VAR_082712 p.Gln39Tyr LB/B - - HLA-DRB1 P01911 VAR_082713 p.Pro40Asp LB/B - - HLA-DRB1 P01911 VAR_082714 p.Pro40Gly LB/B - - HLA-DRB1 P01911 VAR_082715 p.Pro40Leu LB/B rs17878703 - HLA-DRB1 P01911 VAR_082716 p.Pro40Ser LB/B rs9269955 - HLA-DRB1 P01911 VAR_082717 p.Pro40Val LB/B - - HLA-DRB1 P01911 VAR_082718 p.Lys41Thr LB/B rs1136756 - HLA-DRB1 P01911 VAR_082719 p.Arg42Phe LB/B - - HLA-DRB1 P01911 VAR_082720 p.Arg42Gly LB/B rs1136758 - HLA-DRB1 P01911 VAR_082721 p.Arg42His LB/B - - HLA-DRB1 P01911 VAR_082722 p.Arg42Ser LB/B rs9269951 - HLA-DRB1 P01911 VAR_082723 p.Arg42Tyr LB/B - - HLA-DRB1 P01911 VAR_082724 p.Glu43Lys LB/B rs17882014 - HLA-DRB1 P01911 VAR_082725 p.His45Gln LB/B rs17879981 - HLA-DRB1 P01911 VAR_082726 p.His45Tyr LB/B rs17879702 - HLA-DRB1 P01911 VAR_082727 p.Arg54Gln LB/B rs17885382 - HLA-DRB1 P01911 VAR_082728 p.Phe55Leu LB/B rs1059572 - HLA-DRB1 P01911 VAR_082729 p.Phe55Tyr LB/B rs1059569 - HLA-DRB1 P01911 VAR_082730 p.Asp57Glu LB/B rs1059575 - HLA-DRB1 P01911 VAR_082731 p.Asp57His LB/B rs17878947 - HLA-DRB1 P01911 VAR_082732 p.Tyr59Cys LB/B rs3175105 - HLA-DRB1 P01911 VAR_082733 p.Tyr59Gly LB/B - - HLA-DRB1 P01911 VAR_082734 p.Tyr59His LB/B rs11554462 - HLA-DRB1 P01911 VAR_082735 p.Tyr59Leu LB/B - - HLA-DRB1 P01911 VAR_082736 p.Tyr59Arg LB/B - - HLA-DRB1 P01911 VAR_082737 p.Phe60Ile LB/B rs17882300 - HLA-DRB1 P01911 VAR_082738 p.Phe60Val LB/B rs17882300 - HLA-DRB1 P01911 VAR_082739 p.Tyr61His LB/B rs1064664 - HLA-DRB1 P01911 VAR_082740 p.Asn62His LB/B rs17879995 - HLA-DRB1 P01911 VAR_082741 p.Ser66Phe LB/B rs707957 - HLA-DRB1 P01911 VAR_082742 p.Ser66Leu LB/B - - HLA-DRB1 P01911 VAR_082743 p.Ser66Asn LB/B rs796324593 - HLA-DRB1 P01911 VAR_082744 p.Ser66Tyr LB/B rs707957 - HLA-DRB1 P01911 VAR_082745 p.Val67Ala LB/B rs17878951 - HLA-DRB1 P01911 VAR_082746 p.Val67Leu LB/B rs17878614 - HLA-DRB1 P01911 VAR_082747 p.Phe69Tyr LB/B rs17882455 - HLA-DRB1 P01911 VAR_082748 p.Phe76Tyr LB/B rs17884945 - HLA-DRB1 P01911 VAR_082749 p.Asp86Ala LB/B rs17885129 - HLA-DRB1 P01911 VAR_082750 p.Asp86Ser LB/B - - HLA-DRB1 P01911 VAR_082751 p.Asp86Val LB/B rs17885129 - HLA-DRB1 P01911 VAR_082752 p.Ala87Glu LB/B - - HLA-DRB1 P01911 VAR_082753 p.Tyr89His LB/B rs17882583 - HLA-DRB1 P01911 VAR_082754 p.Tyr89Ser LB/B rs1059586 - HLA-DRB1 P01911 VAR_082755 p.Ile96Phe LB/B rs17886918 - HLA-DRB1 P01911 VAR_082756 p.Ile96Leu LB/B rs17886918 - HLA-DRB1 P01911 VAR_082757 p.Gln99Asp LB/B - - HLA-DRB1 P01911 VAR_082758 p.Gln99Arg LB/B rs17884070 - HLA-DRB1 P01911 VAR_082759 p.Ala100Glu LB/B rs9269942 - HLA-DRB1 P01911 VAR_082760 p.Ala100Lys LB/B rs796196270 - HLA-DRB1 P01911 VAR_082761 p.Ala100Arg LB/B - - HLA-DRB1 P01911 VAR_082762 p.Ala102Gly LB/B rs17878857 - HLA-DRB1 P01911 VAR_082763 p.Ala103Glu LB/B rs17886882 - HLA-DRB1 P01911 VAR_082764 p.Ala103Leu LB/B - - HLA-DRB1 P01911 VAR_082765 p.Ala103Gln LB/B - - HLA-DRB1 P01911 VAR_082766 p.Ala103Arg LB/B - - HLA-DRB1 P01911 VAR_082767 p.Thr106Asn LB/B rs9269941 - HLA-DRB1 P01911 VAR_082768 p.Tyr107Val LB/B - - HLA-DRB1 P01911 VAR_082769 p.Val114Ala LB/B rs17424145 - HLA-DRB1 P01911 VAR_082770 p.Val115Gly LB/B rs17885482 - HLA-DRB1 P01911 VAR_082771 p.Gln125Glu LB/B rs17882084 - HLA-DRB1 P01911 VAR_082772 p.Gln125His LB/B rs1071752 - HLA-DRB1 P01911 VAR_082773 p.Gln125Tyr LB/B - - HLA-DRB1 P01911 VAR_082774 p.Lys127Glu LB/B rs17405219 - HLA-DRB1 P01911 VAR_082775 p.Ser133Ala LB/B rs2308760 - HLA-DRB1 P01911 VAR_082776 p.His141Tyr LB/B rs751099504 - HLA-DRB1 P01911 VAR_082777 p.Ser149Asn LB/B rs1059351 - HLA-DRB1 P01911 VAR_082778 p.Leu162Arg LB/B rs707954 - HLA-DRB1 P01911 VAR_082779 p.Ala169Thr LB/B rs78916069 - HLA-DRB1 P01911 VAR_082780 p.Met171Val LB/B rs701829 - HLA-DRB1 P01911 VAR_082781 p.Gln178His LB/B rs77637983 - HLA-DRB1 P01911 VAR_082782 p.Arg195Gln LB/B rs3205588 - HLA-DRB1 P01911 VAR_082783 p.Val209Leu LB/B rs111739605 - HLA-DRB1 P01911 VAR_082784 p.Thr210Met LB/B - - HLA-DRB1 P01911 VAR_082785 p.Arg218Ser LB/B - - HLA-DRB1 P01911 VAR_082786 p.Gln260Pro LB/B rs17887154 - HLA-DRB1 P01911 VAR_082787 p.Thr262Arg LB/B rs9269744 - HLA-DRB3 P79483 VAR_016686 p.Arg40Cys LB/B - - HLA-DRB3 P79483 VAR_033396 p.Gly102Ala LB/B rs17878857 - HLA-DRB3 P79483 VAR_033397 p.Val114Ala LB/B rs1136778 - HLA-DRB3 P79483 VAR_060739 p.Leu37Ser LB/B - - HLA-DRB3 P79483 VAR_060740 p.Glu38Gln LB/B rs1071747 - HLA-DRB3 P79483 VAR_060741 p.Leu39Tyr LB/B - - HLA-DRB3 P79483 VAR_060742 p.Arg40Leu LB/B rs1071748 - HLA-DRB3 P79483 VAR_060743 p.Arg40Ser LB/B rs1136752 - HLA-DRB3 P79483 VAR_060744 p.Lys41Thr LB/B rs200581589 - HLA-DRB3 P79483 VAR_060745 p.Tyr55Leu LB/B - - HLA-DRB3 P79483 VAR_060746 p.Tyr55Phe LB/B rs147440497 - HLA-DRB3 P79483 VAR_060747 p.Asp57Glu LB/B rs202185589 - HLA-DRB3 P79483 VAR_060748 p.Asp57Asn LB/B rs142793258 - HLA-DRB3 P79483 VAR_060749 p.Arg58Ile LB/B rs1407020168 - HLA-DRB3 P79483 VAR_060750 p.Tyr59His LB/B rs138849995 - HLA-DRB3 P79483 VAR_060751 p.Phe66Ser LB/B rs200042906 - HLA-DRB3 P79483 VAR_060752 p.Phe66Leu LB/B rs707956 - HLA-DRB3 P79483 VAR_060753 p.Phe66Asn LB/B - - HLA-DRB3 P79483 VAR_060754 p.Phe66Tyr LB/B rs200042906 - HLA-DRB3 P79483 VAR_060755 p.Leu67Ala LB/B - - HLA-DRB3 P79483 VAR_060756 p.Leu67Val LB/B rs1059580 - HLA-DRB3 P79483 VAR_060757 p.Arg68Ser LB/B rs774894415 - HLA-DRB3 P79483 VAR_060758 p.Thr80Arg LB/B rs79606458 - HLA-DRB3 P79483 VAR_060759 p.Arg84Leu LB/B - - HLA-DRB3 P79483 VAR_060760 p.Val86Ala LB/B rs144532965 - HLA-DRB3 P79483 VAR_060761 p.Val86Ser LB/B - - HLA-DRB3 P79483 VAR_060762 p.Val86Asp LB/B rs144532965 - HLA-DRB3 P79483 VAR_060763 p.Ala87Glu LB/B - - HLA-DRB3 P79483 VAR_060764 p.Ser89His LB/B - - HLA-DRB3 P79483 VAR_060765 p.Ser89Tyr LB/B rs41541218 - HLA-DRB3 P79483 VAR_060766 p.Leu96Phe LB/B rs696318 - HLA-DRB3 P79483 VAR_060767 p.Leu96Ile LB/B rs696318 - HLA-DRB3 P79483 VAR_060768 p.Arg103Gln LB/B rs1059598 - HLA-DRB3 P79483 VAR_060769 p.Asn106Thr LB/B rs115817940 - HLA-DRB3 P79483 VAR_060770 p.Gly113Arg LB/B - - HLA-DRB3 P79483 VAR_060771 p.Gly115Ala LB/B - - HLA-DRB3 P79483 VAR_060772 p.Gly115Val LB/B rs41556512 - HLA-DRB3 P79483 VAR_060773 p.Ala169Thr LB/B rs75709987 - HLA-DRB3 P79483 VAR_060774 p.Gln178His LB/B rs139485758 - HLA-DRB3 P79483 VAR_060775 p.Val193Phe LB/B - - HLA-DRB3 P79483 VAR_060776 p.Ala212Pro LB/B rs142204283 - HLA-DRB3 P79483 VAR_060777 p.Arg218Ser LB/B rs147669022 - HLA-DRB4 P13762 VAR_060778 p.Asp105Gly LB/B - - HLA-DRB4 P13762 VAR_060779 p.Thr106Asn LB/B - - HLA-DRB4 P13762 VAR_060780 p.Tyr110His LB/B - - HLA-DRB4 P13762 VAR_060781 p.Gly113Arg LB/B - - HLA-DRB4 P13762 VAR_060782 p.His141Tyr LB/B - - HLA-DRB4 P13762 VAR_060783 p.Gly164Ser LB/B - - HLA-DRB5 Q30154 VAR_039871 p.Leu28Ser LB/B - - HLA-DRB5 Q30154 VAR_039872 p.Gly154Ala LB/B rs113395425 - HLA-DRB5 Q30154 VAR_050355 p.Met20Thr LB/B rs17211043 - HLA-DRB5 Q30154 VAR_050356 p.Arg33Gln LB/B rs1141741 - HLA-DRB5 Q30154 VAR_050357 p.Lys41Thr LB/B rs200581589 - HLA-DRB5 Q30154 VAR_050358 p.Asn62His LB/B rs1059576 - HLA-DRB5 Q30154 VAR_050359 p.Thr106Asn LB/B rs115817940 - HLA-DRB5 Q30154 VAR_060951 p.Lys14Met LB/B rs1064587 - HLA-DRB5 Q30154 VAR_060952 p.Lys14Gln LB/B rs701884 - HLA-DRB5 Q30154 VAR_060953 p.Lys14Val LB/B - - HLA-DRB5 Q30154 VAR_060954 p.Arg35Cys LB/B rs1136744 - HLA-DRB5 Q30154 VAR_060955 p.His57Gln LB/B rs202185589 - HLA-DRB5 Q30154 VAR_060956 p.Asp59Gly LB/B rs41546317 - HLA-DRB5 Q30154 VAR_060958 p.Asp66Asn LB/B rs707956 - HLA-DRB5 Q30154 VAR_060959 p.Asp66Tyr LB/B rs707956 - HLA-DRB5 Q30154 VAR_060960 p.Leu67Val LB/B rs1059580 - HLA-DRB5 Q30154 VAR_060961 p.Ala87Glu LB/B - - HLA-DRB5 Q30154 VAR_060962 p.Tyr89Ser LB/B rs41541218 - HLA-DRB5 Q30154 VAR_060963 p.Phe96Leu LB/B rs696318 - HLA-DRB5 Q30154 VAR_060964 p.Phe96Ile LB/B rs696318 - HLA-DRB5 Q30154 VAR_060965 p.Asp99Glu LB/B rs41559913 - HLA-DRB5 Q30154 VAR_060966 p.Asp99Gly LB/B rs41545413 - HLA-DRB5 Q30154 VAR_060967 p.Asp99His LB/B rs41547217 - HLA-DRB5 Q30154 VAR_060968 p.Asp99Asn LB/B rs41547217 - HLA-DRB5 Q30154 VAR_060969 p.Asp99Gln LB/B - - HLA-DRB5 Q30154 VAR_060970 p.Asp99Arg LB/B - - HLA-DRB5 Q30154 VAR_060971 p.Arg100Ala LB/B - - HLA-DRB5 Q30154 VAR_060972 p.Arg100Gly LB/B rs41551116 - HLA-DRB5 Q30154 VAR_060973 p.Arg100Thr LB/B rs41544215 - HLA-DRB5 Q30154 VAR_060974 p.Ala103Glu LB/B rs1059598 - HLA-DRB5 Q30154 VAR_060975 p.Ala103Leu LB/B - - HLA-DRB5 Q30154 VAR_060976 p.Tyr107Val LB/B - - HLA-DRB5 Q30154 VAR_060977 p.Val114Ala LB/B rs1136778 - HLA-DRB5 Q30154 VAR_060978 p.Gly115Val LB/B rs41556512 - HLA-DRB5 Q30154 VAR_060979 p.Ser164Gly LB/B rs1059633 - HLA-DRB5 Q30154 VAR_060980 p.Thr186Ile LB/B rs41559420 - HLA-DRB5 Q30154 VAR_060981 p.Val232Ile LB/B rs41553512 - HLA-E P13747 VAR_016651 p.Gly128Arg LB/B rs1264457 - HLA-E P13747 VAR_016652 p.Arg178Gly LB/B rs41562314 - HLA-E P13747 VAR_059510 p.Asn98Lys LB/B rs1059510 - HLA-F P30511 VAR_018327 p.Pro272Ser LB/B rs1736924 - HLA-F P30511 VAR_056525 p.Ala13Val LB/B rs17875379 - HLA-F P30511 VAR_056526 p.Pro71Gln LB/B rs17875380 - HLCS P50747 VAR_005084 p.Leu237Pro LP/P rs119103227 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_009196 p.Val333Glu LP/P rs1198548955 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_009197 p.Thr462Ile LP/P rs1256356959 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_009198 p.Val550Met LP/P rs119103231 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_009199 p.Asp571Asn LP/P rs119103228 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_009200 p.Gly581Ser LP/P rs119103230 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_013009 p.Arg508Trp LP/P rs119103229 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_021218 p.Leu216Arg LP/P rs28934602 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_021219 p.Asn511Lys LP/P - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_021220 p.Gly582Arg LP/P rs376899782 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_035800 p.Glu42Asp LP/P rs61732504 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046507 p.Arg183Pro LP/P - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046508 p.Arg360Ser LP/P rs1230666123 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046509 p.Val363Asp LP/P rs769499327 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046510 p.Tyr456Cys LP/P rs781603756 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046511 p.Leu470Ser LP/P rs1261821166 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046512 p.Gly518Glu LP/P - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046513 p.Val547Gly LP/P - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046514 p.Asp615Tyr LP/P - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046515 p.Asp634Asn LP/P rs149399432 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046516 p.Asp634Tyr LP/P - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046517 p.Asp715Gly LP/P - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_073074 p.Gly241Trp LP/P - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_073075 p.Gly505Arg LP/P rs1555885056 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLF Q16534 VAR_008515 p.Ile253Phe US - - HLTF Q14527 VAR_029265 p.Arg819His LB/B rs2229361 - HLTF Q14527 VAR_052121 p.Asn311Ser LB/B rs2305868 - HLTF Q14527 VAR_052122 p.Glu362Gln LB/B rs2228257 - HLX Q14774 VAR_037162 p.Ser116Pro LB/B rs12141189 - HLX Q14774 VAR_037163 p.Pro356Leu LB/B rs2738755 - HLX Q14774 VAR_049582 p.Ala387Gly LB/B rs11578466 - HM13 Q8TCT9 VAR_014274 p.Ala259Pro LB/B rs1044419 - HMBS P08397 VAR_003638 p.Arg22Cys LP/P rs189159450 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003639 p.Arg26His LP/P rs118204103 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003640 p.Ala31Thr LP/P rs118204104 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003641 p.Gln34Lys LP/P rs118204105 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003642 p.Ala55Ser LP/P rs118204106 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003643 p.Val93Phe LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003644 p.Lys98Arg LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003645 p.Gly111Arg LP/P rs118204107 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003646 p.Arg116Gln LP/P rs1165046276 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003647 p.Arg116Trp LP/P rs118204094 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003648 p.Pro119Leu LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003649 p.Arg149Leu LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003650 p.Arg149Gln LP/P rs118204098 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003651 p.Arg167Gln LP/P rs118204095 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003652 p.Arg167Trp LP/P rs118204101 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003653 p.Arg173Gln LP/P rs118204096 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003654 p.Arg173Trp LP/P rs575222284 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003655 p.Leu177Arg LP/P rs118204108 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003656 p.Arg195Cys LP/P rs34413634 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003657 p.Arg201Trp LP/P rs118204109 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003658 p.Val222Met LP/P rs1261947877 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003659 p.Glu223Lys LP/P rs118204110 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003660 p.Arg225Gly LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003661 p.Leu238Arg LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003662 p.Leu245Arg LP/P rs118204099 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003663 p.Cys247Phe LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003664 p.Cys247Arg LP/P rs118204111 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003665 p.Glu250Ala LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003666 p.Glu250Lys LP/P rs118204112 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003667 p.Ala252Thr LP/P rs118204113 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003668 p.Ala252Val LP/P rs118204114 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003669 p.His256Asn LP/P rs118204115 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003670 p.Thr269Ile LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003671 p.Gly274Arg LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003672 p.Leu278Pro LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003673 p.Gly280Arg LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011001 p.Gly24Ser LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011002 p.Arg26Cys LP/P rs998842815 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011003 p.Ser28Asn LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011004 p.Ala31Pro LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011005 p.Gln34Pro LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011006 p.Thr35Met LP/P rs974712040 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011007 p.Leu42Ser LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011008 p.Asp61Asn LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011009 p.Leu85Arg LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011010 p.Val90Gly LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011011 p.Val124Asp LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011012 p.Asp178Asn US rs536814318 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011013 p.Val202Leu LP/P rs914335144 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011014 p.Glu209Lys LP/P rs1007859875 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011015 p.Gly216Asp LP/P rs118204116 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011016 p.Gln217His LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011017 p.Gln217Leu LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011018 p.Ala219Asp LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011020 p.Glu250Gln LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011021 p.Glu250Val LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011022 p.His256Tyr LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011023 p.Val267Met LP/P rs1057521126 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011024 p.Ala270Asp LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011025 p.Ala270Gly LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011028 p.Gly335Asp LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011029 p.Gly335Ser LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025558 p.Met18Ile LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025559 p.Gln34Arg LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025560 p.Asp61Tyr LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025561 p.Thr78Pro LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025562 p.Glu80Gly LP/P rs1946174360 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025563 p.Leu81Pro LP/P rs118204119 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025564 p.Glu86Val LP/P rs150763621 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025565 p.Leu92Pro LP/P rs1946187914 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025567 p.Ser96Phe LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025568 p.Asp99Gly LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025569 p.Asp99His LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025570 p.Asp99Asn LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025571 p.Ile113Thr LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025572 p.Ala122Gly LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025573 p.Met212Val LP/P rs772471000 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025574 p.Arg225Gln US rs142459647 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025575 p.Gly236Ser LP/P rs1946295991 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025576 p.Leu244Pro LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025577 p.Leu254Pro LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025578 p.Gly260Asp LP/P rs990831395 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025579 p.Cys261Tyr LP/P rs1334178100 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025580 p.Leu343Pro LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_073714 p.Lys132Asn US rs551209435 - HMBS P08397 VAR_073715 p.Val215Glu US rs1205219549 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_073716 p.Leu238Pro US - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_074151 p.Arg32Pro LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_074152 p.Thr59Ile US rs761004837 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_074153 p.Gln204Lys LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_074154 p.Val215Met LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_074155 p.Glu250Asp LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_074156 p.Ala330Pro LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_074157 p.Leu338Pro LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_087876 p.Leu30Phe LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_087877 p.Val235Glu LP/P - Acute intermittent porphyria (AIP) [MIM:176000] HMCN1 Q96RW7 VAR_024811 p.Ala1624Val LB/B - - HMCN1 Q96RW7 VAR_024812 p.Met2327Ile LB/B rs12067376 - HMCN1 Q96RW7 VAR_024813 p.Ile2418Thr LB/B rs12129650 - HMCN1 Q96RW7 VAR_024814 p.Glu2893Gly LB/B rs10798035 - HMCN1 Q96RW7 VAR_024815 p.His4084Tyr LB/B rs41317489 - HMCN1 Q96RW7 VAR_024816 p.Ala4720Thr LB/B rs6693069 - HMCN1 Q96RW7 VAR_024817 p.Asp5087Val LB/B rs41317507 - HMCN1 Q96RW7 VAR_024818 p.Gln5345Arg LP/P rs121434382 Macular degeneration, age-related, 1 (ARMD1) [MIM:603075] HMCN1 Q96RW7 VAR_049875 p.Thr1056Ala LB/B rs7539719 - HMCN1 Q96RW7 VAR_049876 p.Val1184Phe LB/B rs12239296 - HMCN1 Q96RW7 VAR_049877 p.Gln4437Arg LB/B rs10911825 - HMGB1 P09429 VAR_046451 p.Gly11Arg US - Gastric-carcinoma cell line HMGB1 P09429 VAR_046452 p.Ala149Glu US - Gastric-carcinoma cell line HMGB1 P09429 VAR_046453 p.Glu156Gln LB/B - - HMGB1 P09429 VAR_046454 p.Asp190Gly US - Gastric-carcinoma cell line HMGB3 O15347 VAR_049558 p.Thr51Ala LB/B rs16995792 - HMGB3 O15347 VAR_064162 p.Glu56Gln LB/B - - HMGB4 Q8WW32 VAR_055951 p.Lys59Arg LB/B rs11542686 - HMGB4 Q8WW32 VAR_067467 p.Glu92Ala LB/B rs10379 - HMGB4 Q8WW32 VAR_067468 p.Tyr170His LB/B rs57068937 - HMGCL P35914 VAR_003744 p.Arg41Gln LP/P rs121964997 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_003745 p.Asp42Glu LP/P - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_003746 p.Asp42Gly LP/P rs1467902610 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_003747 p.Asp42His LP/P - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_003748 p.Val70Leu LP/P rs121964996 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_003749 p.His233Arg LP/P rs727503963 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_014202 p.Glu279Lys LP/P rs121964998 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058440 p.Glu37Lys LP/P - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058441 p.Lys48Asn LP/P - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058442 p.Ser75Arg LP/P rs1357942068 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058443 p.Ser142Phe LP/P - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058444 p.Cys174Tyr LP/P rs765475941 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058445 p.Phe192Ser LP/P - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058446 p.Ile200Phe LP/P - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058447 p.Ser201Tyr LP/P rs760106433 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058448 p.Gly203Glu LP/P rs1553131940 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058449 p.Asp204Asn LP/P - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058450 p.Leu263Pro LP/P - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_065453 p.Arg165Gln LP/P rs199587895 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCR P04035 VAR_011954 p.Ile638Val LB/B rs5908 - HMGCR P04035 VAR_088585 p.Arg443Gln LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 28 (LGMDR28) [MIM:620375] HMGCR P04035 VAR_088586 p.Arg443Trp LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 28 (LGMDR28) [MIM:620375] HMGCR P04035 VAR_088587 p.Ile467Met US - Muscular dystrophy, limb-girdle, autosomal recessive 28 (LGMDR28) [MIM:620375] HMGCR P04035 VAR_088589 p.Arg515Thr US - Muscular dystrophy, limb-girdle, autosomal recessive 28 (LGMDR28) [MIM:620375] HMGCR P04035 VAR_088590 p.Leu546Ser US - Muscular dystrophy, limb-girdle, autosomal recessive 28 (LGMDR28) [MIM:620375] HMGCR P04035 VAR_088591 p.Asp623Asn LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 28 (LGMDR28) [MIM:620375] HMGCR P04035 VAR_088592 p.Tyr792Cys LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 28 (LGMDR28) [MIM:620375] HMGCR P04035 VAR_088593 p.Gly822Asp LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 28 (LGMDR28) [MIM:620375] HMGCS2 P54868 VAR_032711 p.Phe174Leu LP/P rs137852636 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_032757 p.Val54Met LP/P rs28937320 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_032758 p.Tyr167Cys LP/P rs137852640 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_032759 p.Gly212Arg LP/P rs137852638 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_032760 p.Arg500His LP/P rs137852639 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_083500 p.Arg112Trp LP/P rs768707273 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_083501 p.Val144Leu LP/P rs775528207 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_083502 p.Gly168Ser LP/P rs746217014 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_083503 p.Gly169Asp LP/P rs1237226874 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_083504 p.Trp185Arg LP/P - 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_083505 p.Arg188His LP/P rs761373362 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_083506 p.Gly232Val LP/P rs1002548815 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_083507 p.Leu266Ser LP/P rs918691885 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_083508 p.Met307Thr LP/P - 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_083509 p.Ser360Pro LP/P - 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_083510 p.Gly388Arg LP/P rs752626288 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_083512 p.Phe470Thr LP/P - 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_083513 p.Tyr503Cys LP/P - 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGCS2 P54868 VAR_083514 p.Arg505Gln LP/P rs758519315 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] HMGN2 P05204 VAR_003716 p.Glu7Lys US - - HMGN2P46 Q86SG4 VAR_022865 p.Cys91Arg LB/B rs8042811 - HMGXB4 Q9UGU5 VAR_049559 p.Gly165Val LB/B rs1053593 - HMHB1 O97980 VAR_042698 p.His16Tyr LB/B rs161557 - HMMR O75330 VAR_020044 p.Val368Ala LB/B rs299290 - HMMR O75330 VAR_024155 p.Arg92Cys LB/B rs299284 - HMMR O75330 VAR_024156 p.Arg332His LB/B rs2303078 - HMMR O75330 VAR_024157 p.Ala484Val LB/B rs299295 - HMMR O75330 VAR_031661 p.Asn305Lys LB/B rs2303077 - HMMR O75330 VAR_056917 p.Asn320Lys LB/B rs2303077 - HMMR O75330 VAR_056918 p.Asp557His LB/B rs2230362 - HMMR O75330 VAR_056919 p.Leu595Ile LB/B rs2230363 - HMOX1 P09601 VAR_019165 p.Asp7His LB/B rs2071747 - HMOX1 P09601 VAR_022156 p.Pro106Leu LB/B rs9282702 - HMOX2 P30519 VAR_021067 p.Arg137Gln LB/B rs17884623 - HMOX2 P30519 VAR_021068 p.Pro146Leu LB/B rs17880805 - HNF1A P20823 VAR_003756 p.Tyr122Cys LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_003757 p.Ser142Phe LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_003758 p.Arg159Gln LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_003759 p.Arg272His LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_003759 p.Arg272His LP/P - Type 1 diabetes mellitus 20 (T1D20) [MIM:612520] HNF1A P20823 VAR_003760 p.Pro447Leu LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_003761 p.Arg583Gly LP/P - Type 1 diabetes mellitus 20 (T1D20) [MIM:612520] HNF1A P20823 VAR_007905 p.Ile27Leu LB/B rs1169288 - HNF1A P20823 VAR_007906 p.Ser487Asn LB/B rs2464196 - HNF1A P20823 VAR_010537 p.Leu12His LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010538 p.Gly31Asp LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010539 p.Glu48Lys LP/P - Type 1 diabetes mellitus 20 (T1D20) [MIM:612520] HNF1A P20823 VAR_010540 p.Ala98Val LB/B rs1800574 - HNF1A P20823 VAR_010541 p.Leu107Arg LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010542 p.Lys117Glu LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010543 p.Ile128Asn LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010544 p.Pro129Thr LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010545 p.Arg131Gln LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010546 p.Arg131Trp LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010547 p.Val133Met LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010548 p.His143Tyr LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010549 p.Lys158Asn LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010550 p.Arg159Trp LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010551 p.Ala161Thr LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010552 p.Gly191Asp US - - HNF1A P20823 VAR_010554 p.Arg203Cys LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010555 p.Lys205Gln LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010556 p.Arg229Gln LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010557 p.Cys241Gly LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010557 p.Cys241Gly LP/P - Type 1 diabetes mellitus 20 (T1D20) [MIM:612520] HNF1A P20823 VAR_010558 p.Leu254Met US - - HNF1A P20823 VAR_010559 p.Val259Asp LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010560 p.Thr260Met LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010561 p.Arg263Cys LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010562 p.Arg271Trp LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010563 p.Arg272Cys US - - HNF1A P20823 VAR_010564 p.Gly319Ser US - - HNF1A P20823 VAR_010565 p.Gly415Arg LP/P - Type 1 diabetes mellitus 20 (T1D20) [MIM:612520] HNF1A P20823 VAR_010566 p.His514Arg LB/B - - HNF1A P20823 VAR_010567 p.Pro519Leu LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010568 p.Thr537Arg LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010569 p.Gly574Ser LB/B rs1169305 - HNF1A P20823 VAR_010570 p.Arg583Gln US - - HNF1A P20823 VAR_010571 p.Ser594Ile LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010572 p.Glu619Lys LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010573 p.Thr620Ile LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_012483 p.Gly20Arg LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_012484 p.Arg203His LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_012485 p.Ser432Cys LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_012486 p.Ile618Met LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_033088 p.Asn127Tyr US - A hepatocellular carcinoma sample HNF1A P20823 VAR_033089 p.Trp165Cys US - A hepatocellular carcinoma sample HNF1A P20823 VAR_033090 p.Trp206Cys US - - HNF1A P20823 VAR_033091 p.Trp206Leu US - - HNF1A P20823 VAR_033092 p.Asn237Ser US - - HNF1A P20823 VAR_033093 p.Arg244Gly US - - HNF1A P20823 VAR_033094 p.Gln250Pro US - A hepatocellular carcinoma sample HNF1A P20823 VAR_033095 p.Phe268Cys US - - HNF1A P20823 VAR_033096 p.Lys273Glu US - - HNF1A P20823 VAR_063069 p.Arg200Trp LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_079479 p.Arg271Gly LP/P - Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] HNF1B P35680 VAR_012058 p.Gly492Ser US rs187556368 - HNF1B P35680 VAR_017665 p.Ser465Arg LP/P rs121918673 Type 2 diabetes mellitus (T2D) [MIM:125853] HNF1B P35680 VAR_046012 p.Ser36Phe LP/P rs544890850 Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046013 p.Val61Gly LP/P rs147816724 Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046014 p.Gly76Cys US rs144425830 Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046015 p.Val110Gly LP/P rs894213416 Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046016 p.Arg112Pro LP/P - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046017 p.Gln136Glu LP/P - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046018 p.Ser148Leu LP/P - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046019 p.Ser148Trp LP/P rs121918674 Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046020 p.Ser151Pro LP/P - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046021 p.His153Asn LP/P - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046022 p.Lys156Glu LP/P - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046023 p.Lys164Gln LP/P - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046024 p.Arg165His LP/P rs121918675 Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046025 p.Arg235Gln LP/P - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046026 p.Ala241Thr LP/P rs761415487 Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046027 p.Glu260Asp LP/P rs536638039 Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046028 p.Arg276Gly LP/P - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046029 p.Arg276Gln LP/P - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046030 p.Gly285Asp LP/P - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046031 p.Arg295Cys LP/P - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046032 p.Arg295His LP/P rs886043813 Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046033 p.Arg295Pro LP/P - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046034 p.Gly370Ser LP/P rs113042313 Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF4A P41235 VAR_004668 p.Arg136Trp LP/P rs137853336 Maturity-onset diabetes of the young 1 (MODY1) [MIM:125850] HNF4A P41235 VAR_004669 p.Thr139Ile LB/B rs1800961 - HNF4A P41235 VAR_004670 p.Val402Ile LP/P rs137853337 Type 2 diabetes mellitus (T2D) [MIM:125853] HNF4A P41235 VAR_010600 p.Val264Met LB/B rs139779712 - HNF4A P41235 VAR_010601 p.Glu285Gln LP/P - Maturity-onset diabetes of the young 1 (MODY1) [MIM:125850] HNF4A P41235 VAR_011785 p.Pro445Ser LB/B rs1063239 - HNF4A P41235 VAR_062267 p.Val453Ile LB/B rs776824742 - HNF4A P41235 VAR_071951 p.Arg85Trp LP/P rs587777732 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young (FRTS4) [MIM:616026] HNF4A P41235 VAR_071952 p.Met373Arg LP/P rs137853338 Maturity-onset diabetes of the young 1 (MODY1) [MIM:125850] HNF4G Q14541 VAR_009704 p.Met190Ile LB/B rs1805098 - HNMT P50135 VAR_010252 p.Thr105Ile LB/B rs11558538 - HNMT P50135 VAR_076312 p.Gly60Asp LP/P rs758252808 Intellectual developmental disorder, autosomal recessive 51 (MRT51) [MIM:616739] HNMT P50135 VAR_076313 p.Leu208Pro LP/P rs745756308 Intellectual developmental disorder, autosomal recessive 51 (MRT51) [MIM:616739] HNRNPA1 P09651 VAR_070588 p.Asp314Asn LP/P rs397518453 Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426] HNRNPA1 P09651 VAR_070589 p.Asp314Val LP/P rs397518452 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 (IBMPFD3) [MIM:615424] HNRNPA1 P09651 VAR_070590 p.Asn319Ser LP/P rs397518454 Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426] HNRNPA1 P09651 VAR_077531 p.Gln277Lys US - Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426] HNRNPA1 P09651 VAR_077532 p.Gly283Arg LB/B rs375259222 - HNRNPA1 P09651 VAR_077533 p.Pro340Ser LP/P - Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426] HNRNPA1L2 Q32P51 VAR_038904 p.Asn215Asp LB/B rs9536212 - HNRNPA2B1 P22626 VAR_070591 p.Asp302Val LP/P rs397515326 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (IBMPFD2) [MIM:615422] HNRNPCL1 O60812 VAR_033723 p.Val258Asp LB/B rs2076063 - HNRNPCL1 O60812 VAR_052225 p.Gln208His LB/B rs6702447 - HNRNPCL1 O60812 VAR_059824 p.Asp81Val LB/B rs2982092 - HNRNPDL O14979 VAR_072567 p.Asp378His LP/P rs587777669 Muscular dystrophy, limb-girdle, autosomal dominant 3 (LGMDD3) [MIM:609115] HNRNPDL O14979 VAR_072568 p.Asp378Asn LP/P rs587777669 Muscular dystrophy, limb-girdle, autosomal dominant 3 (LGMDD3) [MIM:609115] HNRNPF P52597 VAR_027999 p.Lys87Arg LB/B rs17851426 - HNRNPH1 P31943 VAR_087781 p.Arg206Gln LP/P - Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (NEDCDS) [MIM:620083] HNRNPH1 P31943 VAR_087782 p.Arg206Trp LP/P - Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (NEDCDS) [MIM:620083] HNRNPH2 P55795 VAR_077233 p.Arg206Gln LP/P rs886039764 Intellectual developmental disorder, X-linked, syndromic, Bain type (MRXSB) [MIM:300986] HNRNPH2 P55795 VAR_077234 p.Arg206Trp LP/P rs886039763 Intellectual developmental disorder, X-linked, syndromic, Bain type (MRXSB) [MIM:300986] HNRNPH2 P55795 VAR_077235 p.Pro209Leu LP/P rs1555988417 Intellectual developmental disorder, X-linked, syndromic, Bain type (MRXSB) [MIM:300986] HNRNPH3 P31942 VAR_020333 p.Asn163Ser LB/B rs2273903 - HNRNPH3 P31942 VAR_052226 p.Gly284Ala LB/B rs16925347 - HNRNPR O43390 VAR_087803 p.Arg585His LP/P - Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities (NEDDFSB) [MIM:620073] HNRNPU Q00839 VAR_014712 p.Phe712Leu LB/B rs1052660 - HNRNPUL1 Q9BUJ2 VAR_025606 p.Gly91Cys LB/B rs17849624 - HOGA1 Q86XE5 VAR_064035 p.Cys257Gly LP/P rs267606764 Hyperoxaluria primary 3 (HP3) [MIM:613616] HOGA1 Q86XE5 VAR_064036 p.Gly287Val LP/P rs138207257 Hyperoxaluria primary 3 (HP3) [MIM:613616] HOMER2 Q9NSB8 VAR_053366 p.Arg219His LB/B rs7175005 - HOMER2 Q9NSB8 VAR_053367 p.Ile239Ser LB/B rs17158223 - HOMER2 Q9NSB8 VAR_075751 p.Arg196Pro LP/P rs864309524 Deafness, autosomal dominant, 68 (DFNA68) [MIM:616707] HOMER3 Q9NSC5 VAR_017410 p.Ser342Arg LB/B rs1059240 - HOMEZ Q8IX15 VAR_055956 p.Ala278Thr LB/B rs10131813 - HOOK1 Q9UJC3 VAR_035709 p.Ser433Leu US - A breast cancer sample HOOK1 Q9UJC3 VAR_077930 p.Gly689Ser LB/B rs1008809819 - HOOK2 Q96ED9 VAR_017575 p.Gly10Arg LB/B rs2305376 - HOOK2 Q96ED9 VAR_017576 p.His488Gln LB/B rs897804 - HOOK3 Q86VS8 VAR_035710 p.Gln221Arg US - A breast cancer sample HOOK3 Q86VS8 VAR_049363 p.Tyr670Ser LB/B rs34131505 - HORMAD1 Q86X24 VAR_031801 p.Thr267Ile LB/B rs1336900 - HORMAD2 Q8N7B1 VAR_031802 p.Ala2Thr LB/B rs34150968 - HORMAD2 Q8N7B1 VAR_031803 p.Val20Leu LB/B rs34305723 - HOXA1 P49639 VAR_010305 p.His73Arg LB/B rs10951154 - HOXA1 P49639 VAR_030576 p.Glu189Ala LB/B rs17500494 - HOXA13 P31271 VAR_017775 p.Gln371Leu LP/P - Guttmacher syndrome (GUTTS) [MIM:176305] HOXA13 P31271 VAR_017776 p.Asn372His LP/P rs121912542 Hand-foot-genital syndrome (HFG) [MIM:140000] HOXA13 P31271 VAR_075341 p.Ile368Phe LP/P - Hand-foot-genital syndrome (HFG) [MIM:140000] HOXA13 P31271 VAR_075342 p.Val375Phe LP/P - Hand-foot-genital syndrome (HFG) [MIM:140000] HOXA2 O43364 VAR_048023 p.Gln186Lys LP/P rs119489104 Microtia, hearing impairment, and cleft palate (MHICP) [MIM:612290] HOXA3 O43365 VAR_036264 p.Asp42Asn US rs764656757 A breast cancer sample HOXA3 O43365 VAR_036265 p.Ala131Thr US - A breast cancer sample HOXA4 Q00056 VAR_028414 p.Thr70Pro LB/B rs6944345 - HOXA4 Q00056 VAR_028415 p.Leu140Pro LB/B rs10251056 - HOXA4 Q00056 VAR_028416 p.Leu178Phe LB/B rs13246088 - HOXA4 Q00056 VAR_028417 p.Thr251Pro LB/B rs6976847 - HOXA4 Q00056 VAR_028418 p.Pro317Ser LB/B rs17500757 - HOXA4 Q00056 VAR_036266 p.Gly37Asp US - A breast cancer sample HOXA7 P31268 VAR_028001 p.Ala18Thr LB/B rs2301721 - HOXB1 P14653 VAR_055959 p.Thr71Asn LB/B rs35254561 - HOXB1 P14653 VAR_055960 p.Gln103His LB/B rs12939811 - HOXB1 P14653 VAR_058129 p.Glu265Gly LB/B rs7226137 - HOXB1 P14653 VAR_068723 p.Arg207Cys LP/P rs387907239 Facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744] HOXB13 Q92826 VAR_031849 p.Thr41Met LB/B rs199799743 - HOXB13 Q92826 VAR_071866 p.Gly84Glu LB/B rs138213197 - HOXB13 Q92826 VAR_071867 p.Tyr88Asp US - - HOXB13 Q92826 VAR_071868 p.Leu144Pro US - - HOXB13 Q92826 VAR_071869 p.Gly216Cys US rs375917549 - HOXB13 Q92826 VAR_071870 p.Arg229Gly US rs529100627 - HOXB13 Q92826 VAR_077246 p.Arg217Cys LB/B rs139475791 - HOXB3 P14651 VAR_047729 p.Pro82Thr LB/B rs2229304 - HOXB7 P09629 VAR_058204 p.Thr9Ala LB/B rs7406910 - HOXC11 O43248 VAR_031850 p.Pro130Ser LB/B rs34652380 - HOXC11 O43248 VAR_034002 p.Ala222Val LB/B rs12427129 - HOXC13 P31276 VAR_012357 p.Ser50Ile LB/B rs1867298 - HOXC13 P31276 VAR_079380 p.Gln271Arg US rs1383255506 Ectodermal dysplasia 9, hair/nail type (ECTD9) [MIM:614931] HOXC4 P09017 VAR_055961 p.Arg158Leu LB/B rs11835301 - HOXC4 P09017 VAR_055962 p.Asn178Ser LB/B rs35406888 - HOXC9 P31274 VAR_036267 p.Gly87Ser US - A colorectal cancer sample HOXD1 Q9GZZ0 VAR_034003 p.Ala296Thr LB/B rs6710142 - HOXD10 P28358 VAR_022582 p.Met319Lys LP/P rs104893634 Vertical talus, congenital (CVT) [MIM:192950] HOXD11 P31277 VAR_031647 p.Gly245Asp LB/B rs376305712 - HOXD12 P35452 VAR_071211 p.Arg186Gln LB/B rs35817516 - HOXD13 P35453 VAR_015952 p.Ser316Cys LP/P rs28928892 Brachydactyly D (BDD) [MIM:113200] HOXD13 P35453 VAR_015952 p.Ser316Cys LP/P rs28928892 Brachydactyly E1 (BDE1) [MIM:113300] HOXD13 P35453 VAR_015953 p.Ile322Leu LP/P rs28928891 Brachydactyly E1 (BDE1) [MIM:113300] HOXD13 P35453 VAR_031650 p.Ser252Ala LB/B rs35290213 - HOXD13 P35453 VAR_031651 p.Arg306Trp LP/P rs28933082 Synpolydactyly 1 (SPD1) [MIM:186000] HOXD13 P35453 VAR_031652 p.Gln325Arg LP/P rs104893635 Syndactyly 5 (SDTY5) [MIM:186300] HOXD13 P35453 VAR_075400 p.Thr313Arg LP/P rs1432063993 Synpolydactyly 1 (SPD1) [MIM:186000] HOXD13 P35453 VAR_076833 p.Arg306Gly LP/P rs28933082 Synpolydactyly 1 (SPD1) [MIM:186000] HOXD13 P35453 VAR_076834 p.Arg306Gln LP/P rs879255265 Synpolydactyly 1 (SPD1) [MIM:186000] HOXD13 P35453 VAR_076835 p.Gln325Lys LP/P rs875989842 Brachydactyly-syndactyly-oligodactyly syndrome (BDSDO) [MIM:610713] HOXD3 P31249 VAR_011881 p.Ser129Cys LB/B rs1051932 - HOXD4 P09016 VAR_067445 p.Ser123Pro LB/B rs34727427 - HP P00738 VAR_005294 p.Asn129Asp LB/B rs199926732 - HP P00738 VAR_017113 p.Glu130Lys LB/B rs200877317 - HP P00738 VAR_017114 p.Asp397His LB/B rs189115161 - HP P00738 VAR_066214 p.Ile247Thr LP/P rs104894517 Anhaptoglobinemia (AHP) [MIM:614081] HPCA P84074 VAR_048662 p.Glu21Asp LB/B rs11554958 - HPCA P84074 VAR_073803 p.Thr71Asn LP/P rs775863165 Dystonia 2, torsion, autosomal recessive (DYT2) [MIM:224500] HPCA P84074 VAR_073804 p.Asn75Lys LP/P rs786205675 Dystonia 2, torsion, autosomal recessive (DYT2) [MIM:224500] HPCA P84074 VAR_073805 p.Ala190Thr LP/P rs550921485 Dystonia 2, torsion, autosomal recessive (DYT2) [MIM:224500] HPD P32754 VAR_015444 p.Ala33Thr LB/B rs1154510 - HPD P32754 VAR_015445 p.Tyr160Cys LP/P rs137852865 Tyrosinemia 3 (TYRSN3) [MIM:276710] HPD P32754 VAR_015446 p.Ile267Phe LB/B - - HPD P32754 VAR_015447 p.Ala268Val LP/P - Tyrosinemia 3 (TYRSN3) [MIM:276710] HPD P32754 VAR_015448 p.Ile335Met LP/P - Tyrosinemia 3 (TYRSN3) [MIM:276710] HPD P32754 VAR_015449 p.Val340Leu LB/B rs36023382 - HPD P32754 VAR_048101 p.Arg113Gln LB/B rs11833399 - HPDL Q96IR7 VAR_085125 p.Gly50Asp LP/P rs1391712320 Spastic paraplegia 83, autosomal recessive (SPG83) [MIM:619027] HPDL Q96IR7 VAR_085126 p.Trp157Arg US rs567130416 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) [MIM:619026] HPDL Q96IR7 VAR_085127 p.Cys168Tyr US rs1186696459 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) [MIM:619026] HPDL Q96IR7 VAR_085128 p.Trp179Cys US rs1644253602 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) [MIM:619026] HPDL Q96IR7 VAR_085129 p.Leu217Pro US - Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) [MIM:619026] HPDL Q96IR7 VAR_085130 p.Leu234Pro US rs757449403 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) [MIM:619026] HPDL Q96IR7 VAR_085132 p.Leu248Pro US - Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) [MIM:619026] HPDL Q96IR7 VAR_085133 p.His251Gln US rs1644259400 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) [MIM:619026] HPDL Q96IR7 VAR_085134 p.Gly260Glu US rs758290491 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) [MIM:619026] HPDL Q96IR7 VAR_085135 p.Ile266Thr US rs769373772 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) [MIM:619026] HPDL Q96IR7 VAR_085136 p.Tyr287His US rs777360560 Spastic paraplegia 83, autosomal recessive (SPG83) [MIM:619027] HPDL Q96IR7 VAR_085523 p.Leu176Pro LP/P rs773333490 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) [MIM:619026] HPF1 Q9NWY4 VAR_033183 p.Arg174Lys LB/B rs1047642 - HPF1 Q9NWY4 VAR_033184 p.Glu331Asp LB/B rs1047706 - HPGD P15428 VAR_006972 p.Tyr217Cys LB/B rs140209262 - HPGD P15428 VAR_046209 p.Ala140Pro LP/P rs121434480 Cranioosteoarthropathy (COA) [MIM:259100] HPGD P15428 VAR_060792 p.Ser193Pro LP/P rs121434481 Digital clubbing, isolated congenital (DIGC) [MIM:119900] HPR P00739 VAR_014571 p.His339Asp LB/B rs12646 - HPR P00739 VAR_057161 p.Thr27Met LB/B rs11642506 - HPR P00739 VAR_057162 p.Asn42His LB/B rs152832 - HPR P00739 VAR_057163 p.Arg58Lys LB/B rs152833 - HPR P00739 VAR_057164 p.Arg203Lys LB/B rs2021171 - HPR P00739 VAR_057165 p.Val283Ala LB/B rs1065360 - HPR P00739 VAR_059789 p.Ala156Val LB/B rs1049933 - HPRT1 P00492 VAR_006750 p.Gly7Asp LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006751 p.Val8Gly LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006752 p.Gly16Asp LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006753 p.Gly16Ser LP/P rs137852499 Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006754 p.Asp20Val LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006755 p.Cys23Trp LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006756 p.Leu41Pro LP/P rs137852480 Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006757 p.Ile42Phe LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006758 p.Ile42Thr LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006760 p.Arg45Lys LP/P rs137852491 Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006761 p.Arg48His LP/P rs387906725 Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006762 p.Ala50Val LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006763 p.Ala50Pro LP/P rs1556026984 Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006764 p.Arg51Gly LP/P rs137852494 Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006765 p.Arg51Pro LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006766 p.Asp52Gly LB/B rs137852502 - HPRT1 P00492 VAR_006767 p.Val53Ala LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006768 p.Val53Met LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006769 p.Met54Leu LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006770 p.Met57Thr LP/P rs137852495 Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006771 p.Gly58Arg LP/P rs137852500 Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006772 p.His61Arg US - - HPRT1 P00492 VAR_006773 p.Gly70Glu LP/P rs137852487 Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006774 p.Gly71Arg LP/P rs137852488 Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006775 p.Phe74Leu LP/P rs137852481 Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006776 p.Leu78Val LP/P rs137852501 Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006777 p.Asp80Val LP/P rs137852478 Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006778 p.Ser104Arg LP/P rs137852485 Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006779 p.Ser110Leu LP/P rs137852482 Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006780 p.Val130Asp LP/P rs137852483 Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006781 p.Leu131Ser LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006782 p.Ile132Met LP/P rs137852477 Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006783 p.Ile132Thr LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006784 p.Asp135Gly LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006785 p.Met143Lys LP/P rs137852496 Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006787 p.Ala161Ser LP/P rs137852484 Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006788 p.Ser162Arg LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006789 p.Thr168Ile LP/P rs137852498 Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006790 p.Pro176Leu LP/P rs137852493 Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006791 p.Asp177Val LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006792 p.Asp177Tyr LP/P rs137852492 Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006795 p.Val188Ala LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006795 p.Val188Ala LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006796 p.Ile183Thr LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006797 p.Asp194Glu LP/P rs137852504 Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006798 p.Asp194Asn LP/P rs267606863 Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006799 p.Tyr195Cys LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006800 p.Phe199Val LP/P rs137852486 Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006801 p.Asp201Gly LP/P rs137852479 Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006802 p.Asp201Asn LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_006803 p.Asp201Tyr LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006804 p.His204Asp LP/P rs137852490 Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006805 p.His204Arg LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006806 p.Cys206Tyr LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_071610 p.Cys23Phe LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_071611 p.Asp44Tyr LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_071612 p.His60Arg LP/P rs1228634091 Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_071613 p.Ala64Pro LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_071614 p.Leu65Pro LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_071615 p.Tyr72Cys LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_071616 p.Leu78Gln LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_071618 p.Thr124Pro LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_071619 p.Leu147Pro LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_071620 p.Lys159Glu LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_071622 p.Asp185Gly LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPRT1 P00492 VAR_071623 p.Ala192Val LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323] HPS1 Q92902 VAR_005290 p.Gly283Trp LB/B rs11592273 - HPS1 Q92902 VAR_005291 p.Pro491Arg LB/B rs2296434 - HPS1 Q92902 VAR_005292 p.Gln603Arg LB/B rs2296436 - HPS1 Q92902 VAR_005293 p.Val630Ile LB/B rs139061260 - HPS1 Q92902 VAR_014887 p.Glu100Asp LB/B rs1801285 - HPS1 Q92902 VAR_014888 p.Ala186Val LB/B rs1801286 - HPS1 Q92902 VAR_038378 p.Ala480Thr LB/B rs17109853 - HPS3 Q969F9 VAR_013251 p.Arg397Trp LP/P rs121908316 Hermansky-Pudlak syndrome 3 (HPS3) [MIM:614072] HPS3 Q969F9 VAR_035928 p.Arg397Gln US rs747708121 A colorectal cancer sample HPS3 Q969F9 VAR_038379 p.Glu275Lys LB/B rs34388030 - HPS4 Q9NQG7 VAR_021836 p.Gln625His LB/B rs1894704 - HPS4 Q9NQG7 VAR_024158 p.Leu443Val LB/B rs2014410 - HPS4 Q9NQG7 VAR_024159 p.His606Tyr LB/B rs1894706 - HPS4 Q9NQG7 VAR_025006 p.Glu229Gly LB/B rs713998 - HPS4 Q9NQG7 VAR_025007 p.Val552Met LB/B rs5752330 - HPS5 Q9UPZ3 VAR_015513 p.Leu417Met LB/B rs7128017 - HPS5 Q9UPZ3 VAR_062285 p.Leu624Arg LP/P rs281865102 Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074] HPS5 Q9UPZ3 VAR_062286 p.Thr1098Ile LP/P rs61884288 Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074] HPSE Q9Y251 VAR_023600 p.Asn260Ser US - Some hepatocellular carcinoma HPSE Q9Y251 VAR_068907 p.Lys307Arg LB/B rs11099592 - HPSE2 Q8WWQ2 VAR_023601 p.Tyr579Phe LB/B rs10883100 - HPSE2 Q8WWQ2 VAR_030472 p.Ala315Thr LB/B rs17110744 - HPX P02790 VAR_033990 p.Arg83Trp LB/B rs12117 - HPX P02790 VAR_047137 p.Asp52Asn LB/B rs10839564 - HR O43593 VAR_005265 p.Arg620Gln LB/B rs117197822 - HR O43593 VAR_005266 p.Thr1022Ala LP/P rs7014851 Alopecia universalis congenita (ALUNC) [MIM:203655] HR O43593 VAR_005267 p.Val1136Asp LP/P rs121434448 Alopecia universalis congenita (ALUNC) [MIM:203655] HR O43593 VAR_016222 p.Asp1012Asn LP/P rs121434451 Alopecia universalis congenita (ALUNC) [MIM:203655] HR O43593 VAR_027806 p.Gly337Asp LB/B rs12675375 - HR O43593 VAR_027807 p.Pro924Leu LB/B rs11990421 - HR O43593 VAR_035927 p.Arg633Gln US - A colorectal cancer sample HR O43593 VAR_061664 p.Leu526Pro LB/B rs56140348 - HRAS P01112 VAR_006836 p.Gly12Val US rs104894230 Bladder carcinoma HRAS P01112 VAR_006836 p.Gly12Val LP/P rs104894230 Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] HRAS P01112 VAR_006836 p.Gly12Val LP/P rs104894230 Costello syndrome (CSTLO) [MIM:218040] HRAS P01112 VAR_006837 p.Gly12Ser LP/P rs104894229 Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] HRAS P01112 VAR_006837 p.Gly12Ser LP/P rs104894229 Costello syndrome (CSTLO) [MIM:218040] HRAS P01112 VAR_006838 p.Gln61Leu US rs121913233 Melanoma HRAS P01112 VAR_026106 p.Gly12Ala LP/P rs104894230 Costello syndrome (CSTLO) [MIM:218040] HRAS P01112 VAR_026107 p.Gly13Cys LP/P rs104894228 Costello syndrome (CSTLO) [MIM:218040] HRAS P01112 VAR_026108 p.Gly13Asp LP/P rs104894226 Costello syndrome (CSTLO) [MIM:218040] HRAS P01112 VAR_045975 p.Gly12Cys LP/P rs104894229 Costello syndrome (CSTLO) [MIM:218040] HRAS P01112 VAR_045976 p.Gly12Glu LP/P - Costello syndrome (CSTLO) [MIM:218040] HRAS P01112 VAR_045977 p.Gln22Lys LP/P rs121917757 Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] HRAS P01112 VAR_045978 p.Thr58Ile LP/P rs121917758 Costello syndrome (CSTLO) [MIM:218040] HRAS P01112 VAR_045979 p.Gln61Lys LP/P rs28933406 Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] HRAS P01112 VAR_045980 p.Glu63Lys LP/P rs121917756 Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] HRAS P01112 VAR_045981 p.Lys117Arg LP/P rs104894227 Costello syndrome (CSTLO) [MIM:218040] HRAS P01112 VAR_045982 p.Ala146Thr LP/P rs104894231 Costello syndrome (CSTLO) [MIM:218040] HRAS P01112 VAR_045983 p.Ala146Val LP/P rs121917759 Costello syndrome (CSTLO) [MIM:218040] HRAS P01112 VAR_068816 p.Gly12Asp LP/P rs104894230 Costello syndrome (CSTLO) [MIM:218040] HRAS P01112 VAR_068817 p.Gly13Arg LP/P rs104894228 Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200] HRAS P01112 VAR_078259 p.Ser89Cys US rs755322824 - HRC P23327 VAR_005623 p.Ser96Ala LB/B rs3745297 - HRC P23327 VAR_021931 p.Ser43Asn LB/B rs3745298 - HRG P04196 VAR_014528 p.Pro204Ser LB/B rs9898 - HRG P04196 VAR_020488 p.Asp118Gly LB/B rs3733008 - HRG P04196 VAR_020489 p.His340Arg LB/B rs2228243 - HRG P04196 VAR_022080 p.Ile180Thr LB/B rs10770 - HRG P04196 VAR_024427 p.Gly436Arg LB/B rs2229331 - HRG P04196 VAR_024428 p.Arg448Cys LB/B rs1042445 - HRG P04196 VAR_024429 p.Asn493Ile LB/B rs1042464 - HRG P04196 VAR_048856 p.Ser79Leu LB/B rs4516605 - HRG P04196 VAR_063000 p.Gly103Glu LP/P rs121918122 Thrombophilia due to histidine-rich glycoprotein deficiency (THPH11) [MIM:613116] HRG P04196 VAR_063001 p.Cys241Arg LP/P rs2276804 Thrombophilia due to histidine-rich glycoprotein deficiency (THPH11) [MIM:613116] HRH1 P35367 VAR_033476 p.Gly270Glu LB/B rs7651620 - HRH1 P35367 VAR_035761 p.Asp385Glu US rs1370695377 A colorectal cancer sample HRH1 P35367 VAR_049410 p.Lys19Asn LB/B rs2067466 - HRH2 P25021 VAR_009958 p.Asn217Asp LB/B - - HRH2 P25021 VAR_009959 p.Lys231Arg LB/B - - HRH2 P25021 VAR_009960 p.Val268Met LB/B - - HRH3 Q9Y5N1 VAR_012235 p.Ala280Val US rs752380770 - HRH4 Q9H3N8 VAR_033477 p.Ala138Val LB/B rs11665084 - HRH4 Q9H3N8 VAR_033478 p.His206Arg LB/B rs11662595 - HRNR Q86YZ3 VAR_048494 p.Arg85His LB/B rs11204937 - HRNR Q86YZ3 VAR_048495 p.Gly167Asp LB/B rs12741518 - HRNR Q86YZ3 VAR_048496 p.Glu473Gly LB/B rs6587648 - HRNR Q86YZ3 VAR_048497 p.Gly492Arg LB/B rs6587647 - HRNR Q86YZ3 VAR_048498 p.Arg664Gln LB/B rs7520249 - HRNR Q86YZ3 VAR_048499 p.Ser799Thr LB/B rs6662450 - HRNR Q86YZ3 VAR_059174 p.His273Gln LB/B rs7545406 - HRNR Q86YZ3 VAR_059175 p.Ser2435Gly LB/B rs78949172 - HRNR Q86YZ3 VAR_059176 p.Gly2461Ser LB/B rs6659183 - HRNR Q86YZ3 VAR_061053 p.Arg122Trp LB/B rs57277761 - HRNR Q86YZ3 VAR_061054 p.Gln376Arg LB/B rs6587649 - HRNR Q86YZ3 VAR_061055 p.Gly427Asp LB/B rs6666097 - HRNR Q86YZ3 VAR_061056 p.Tyr517Cys LB/B rs41266134 - HROB Q8N3J3 VAR_032393 p.Thr126Pro LB/B rs227584 - HRURF P0DUH7 VAR_085205 p.Ile24Asn US - Hypotrichosis 4 (HYPT4) [MIM:146550] HRURF P0DUH7 VAR_085206 p.Pro25Ala US rs267606868 Hypotrichosis 4 (HYPT4) [MIM:146550] HRURF P0DUH7 VAR_085207 p.Glu26Lys US - Hypotrichosis 4 (HYPT4) [MIM:146550] HRURF P0DUH7 VAR_085208 p.Asp28His US - Hypotrichosis 4 (HYPT4) [MIM:146550] HS1BP3 Q53T59 VAR_037741 p.Val260Met LB/B rs2305458 - HS1BP3 Q53T59 VAR_037742 p.Gly273Arg LB/B rs35589938 - HS1BP3 Q53T59 VAR_037743 p.Pro348Arg LB/B rs35579164 - HS1BP3 Q53T59 VAR_037744 p.Ala388Thr LB/B rs3732149 - HS2ST1 Q7LGA3 VAR_085252 p.Asp165Tyr LP/P rs758990524 Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) [MIM:619194] HS2ST1 Q7LGA3 VAR_085253 p.Phe176Ser LP/P rs1651972168 Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) [MIM:619194] HS2ST1 Q7LGA3 VAR_085254 p.Arg189Ser LP/P rs1651973144 Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) [MIM:619194] HS3ST1 O14792 VAR_021515 p.Pro22Thr LB/B rs11559238 - HS3ST1 O14792 VAR_052529 p.Lys295Arg LB/B rs34719057 - HS3ST2 Q9Y278 VAR_052530 p.Pro339Ala LB/B rs17725080 - HS3ST4 Q9Y661 VAR_069580 p.Gln136Arg LB/B rs2943336 - HS3ST5 Q8IZT8 VAR_052531 p.Ile247Asn LB/B rs17793043 - HS3ST6 Q96QI5 VAR_085820 p.Thr144Ser US - Angioedema, hereditary, 8 (HAE8) [MIM:619367] HS6ST1 O60243 VAR_069283 p.Arg306Gln LP/P rs201307896 Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] HS6ST1 O60243 VAR_069284 p.Arg306Trp LP/P rs780352591 Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] HS6ST1 O60243 VAR_069285 p.Arg323Gln LP/P rs761325768 Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] HS6ST1 O60243 VAR_069286 p.Arg382Trp LP/P rs199538589 Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] HS6ST1 O60243 VAR_069287 p.Met404Val LP/P - Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] HS6ST1 O60243 VAR_072980 p.Pro218Ser LP/P rs200268730 Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] HS6ST2 Q96MM7 VAR_061828 p.Lys127Asn LB/B rs7053397 - HS6ST2 Q96MM7 VAR_082055 p.Gly306Arg US rs866919041 Paganini-Miozzo syndrome (MRXSPM) [MIM:301025] HS6ST3 Q8IZP7 VAR_028159 p.Lys265Arg LB/B rs9516771 - HSCB Q8IWL3 VAR_048916 p.Tyr73Cys LB/B rs17886090 - HSCB Q8IWL3 VAR_048917 p.Ile163Met LB/B rs17884212 - HSD11B1 P28845 VAR_035845 p.Val148Glu US - A breast cancer sample HSD11B2 P80365 VAR_006958 p.Arg208Cys LP/P rs121917780 Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_006959 p.Arg213Cys LP/P rs28934591 Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015635 p.Leu179Arg LP/P - Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015636 p.Ser180Phe LP/P - Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015637 p.Arg186Cys LP/P rs768507002 Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015638 p.Arg208His LP/P rs28934592 Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015639 p.Pro227Leu LB/B rs121917782 - HSD11B2 P80365 VAR_015640 p.Ala237Val LP/P rs1309642469 Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015641 p.Asp244Asn LP/P - Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015642 p.Leu250Arg LP/P - Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015644 p.Arg279Cys LP/P rs28934594 Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015645 p.Ala328Val LP/P rs1453036708 Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015646 p.Tyr338His LP/P rs387907117 Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_052317 p.Arg147His LB/B rs13306425 - HSD11B2 P80365 VAR_066514 p.Asp223Asn LP/P rs121917833 Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_066515 p.Arg337Cys LP/P rs121917781 Apparent mineralocorticoid excess (AME) [MIM:218030] HSD17B1 P14061 VAR_006951 p.Ala238Val LB/B rs147402365 - HSD17B1 P14061 VAR_006952 p.Gly313Ser LB/B rs605059 - HSD17B10 Q99714 VAR_015987 p.Leu122Val LP/P rs28935476 HSD10 mitochondrial disease (HSD10MD) [MIM:300438] HSD17B10 Q99714 VAR_015988 p.Arg130Cys LP/P rs28935475 HSD10 mitochondrial disease (HSD10MD) [MIM:300438] HSD17B10 Q99714 VAR_032093 p.Asn247Ser LP/P rs122461163 HSD10 mitochondrial disease (HSD10MD) [MIM:300438] HSD17B10 Q99714 VAR_078863 p.Val65Ala US rs104886492 HSD10 mitochondrial disease (HSD10MD) [MIM:300438] HSD17B10 Q99714 VAR_078864 p.Asp86Gly LP/P rs587777651 HSD10 mitochondrial disease (HSD10MD) [MIM:300438] HSD17B10 Q99714 VAR_078865 p.Gln165His LP/P - HSD10 mitochondrial disease (HSD10MD) [MIM:300438] HSD17B10 Q99714 VAR_078866 p.Lys212Glu LP/P rs886041974 HSD10 mitochondrial disease (HSD10MD) [MIM:300438] HSD17B10 Q99714 VAR_078867 p.Glu249Gln LP/P rs62626305 HSD10 mitochondrial disease (HSD10MD) [MIM:300438] HSD17B10 Q99714 VAR_080049 p.Val12Leu LP/P - HSD10 mitochondrial disease (HSD10MD) [MIM:300438] HSD17B10 Q99714 VAR_080050 p.Val176Met LP/P - HSD10 mitochondrial disease (HSD10MD) [MIM:300438] HSD17B10 Q99714 VAR_080051 p.Pro210Ser LP/P - HSD10 mitochondrial disease (HSD10MD) [MIM:300438] HSD17B10 Q99714 VAR_080052 p.Arg226Gln LP/P rs1556894502 HSD10 mitochondrial disease (HSD10MD) [MIM:300438] HSD17B12 Q53GQ0 VAR_027277 p.Ser280Leu LB/B rs11555762 - HSD17B13 Q7Z5P4 VAR_087865 p.Pro260Ser LB/B rs62305723 - HSD17B14 Q9BPX1 VAR_052307 p.Asn31Asp LB/B rs8110220 - HSD17B14 Q9BPX1 VAR_052308 p.Arg130Trp LB/B rs35299026 - HSD17B2 P37059 VAR_018852 p.Ala121Thr LB/B rs8191136 - HSD17B3 P37058 VAR_006953 p.Arg80Gln LP/P rs119481075 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_006954 p.Arg80Trp LP/P rs119481077 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_006955 p.Ala203Val LP/P rs119481076 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_006956 p.Ser232Leu LP/P rs28939085 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_006957 p.Met235Val LP/P rs119481074 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_014870 p.Val31Ile LB/B rs2066480 - HSD17B3 P37058 VAR_014871 p.Gly289Ser LB/B rs2066479 - HSD17B3 P37058 VAR_016067 p.Ala56Thr LP/P rs119481078 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_016068 p.Ser65Leu LP/P rs747329682 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_016069 p.Asn130Ser LP/P rs119481079 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_016070 p.Gln176Pro LP/P rs767259718 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_016071 p.Val205Glu LP/P rs372027264 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_016072 p.Phe208Ile LP/P - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_016073 p.Cys268Tyr LP/P rs119481080 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_016074 p.Pro282Leu LP/P rs144809928 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_016203 p.Glu215Asp LP/P rs115063639 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_061844 p.Gly289Cys LB/B rs2066479 - HSD17B3 P37058 VAR_061845 p.Gly289Arg LB/B rs2066479 - HSD17B3 P37058 VAR_075369 p.Gly133Arg LP/P rs747724352 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B4 P51659 VAR_014872 p.Arg106His LB/B rs25640 - HSD17B4 P51659 VAR_014873 p.Trp511Arg LB/B rs11539471 - HSD17B4 P51659 VAR_014874 p.Ile559Val LB/B rs11205 - HSD17B4 P51659 VAR_024625 p.Thr292Ser LB/B rs1143650 - HSD17B4 P51659 VAR_037576 p.Gly16Ser LP/P rs137853096 D-bifunctional protein deficiency (DBPD) [MIM:261515] HSD17B4 P51659 VAR_052309 p.Phe90Leu LB/B rs28943588 - HSD17B4 P51659 VAR_052310 p.Lys140Asn LB/B rs28943589 - HSD17B4 P51659 VAR_052311 p.Ala427Val LB/B rs28943590 - HSD17B4 P51659 VAR_052312 p.Ala491Thr LB/B rs28943591 - HSD17B4 P51659 VAR_052313 p.Ala606Ser LB/B rs15228 - HSD17B4 P51659 VAR_052314 p.Thr687Ile LB/B rs28943592 - HSD17B4 P51659 VAR_052315 p.Met728Val LB/B rs28943594 - HSD17B4 P51659 VAR_065906 p.Arg106Pro LP/P rs25640 D-bifunctional protein deficiency (DBPD) [MIM:261515] HSD17B4 P51659 VAR_065907 p.Tyr217Cys LP/P rs387906825 Perrault syndrome 1 (PRLTS1) [MIM:233400] HSD17B4 P51659 VAR_065908 p.Asn457Tyr LP/P rs137853097 D-bifunctional protein deficiency (DBPD) [MIM:261515] HSD17B8 Q92506 VAR_035844 p.Val158Leu US - A breast cancer sample HSD17B8 Q92506 VAR_052316 p.His190Arg LB/B rs34491699 - HSD3B1 P14060 VAR_000005 p.Thr367Asn LB/B rs1047303 - HSD3B1 P14060 VAR_014174 p.Ile79Val LB/B rs6201 - HSD3B1 P14060 VAR_014175 p.Phe286Leu LB/B rs6205 - HSD3B1 P14060 VAR_048096 p.Thr54Ile LB/B rs3088283 - HSD3B1 P14060 VAR_048097 p.Arg71Ile LB/B rs4986952 - HSD3B1 P14060 VAR_048098 p.Gly90Ser LB/B rs6684974 - HSD3B2 P26439 VAR_000006 p.Glu142Lys LP/P rs80358219 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_000007 p.Leu205Pro LP/P - Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_000008 p.Ala245Pro LP/P - Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_000009 p.Tyr253Asn LP/P rs1399005702 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_000010 p.Tyr254Asp LP/P rs1411029929 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_000011 p.Thr259Arg LP/P - Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010517 p.Ala10Glu LP/P rs28934880 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010518 p.Ala10Val LP/P rs28934880 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010519 p.Gly15Asp LP/P - Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010520 p.Ala82Thr LP/P rs757033996 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010521 p.Asn100Ser LP/P rs1388517943 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010522 p.Leu108Trp LP/P - Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010523 p.Gly129Arg LP/P rs587628683 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010524 p.Pro155Leu LP/P rs779418168 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010525 p.Ala167Val LP/P rs35486059 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010526 p.Leu173Arg LP/P rs762479018 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010527 p.Pro186Leu LP/P - Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010528 p.Ser213Gly LP/P rs759422374 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010529 p.Lys216Glu LP/P - Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010530 p.Pro222His LP/P - Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010531 p.Pro222Gln LP/P rs765547422 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010533 p.Leu236Ser LP/P rs35887327 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010534 p.Thr259Met LP/P rs80358221 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010535 p.Gly294Val LP/P - Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_014818 p.Glu94Gln LB/B rs6211 - HSD3B2 P26439 VAR_015411 p.Pro222Thr LP/P rs80358220 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_048099 p.Asp74Asn LB/B rs4986954 - HSD3B2 P26439 VAR_065665 p.Pro341Leu LP/P rs121964897 Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_070028 p.Ala82Pro LP/P - Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_083841 p.Gly250Val LP/P - Adrenal hyperplasia 2 (AH2) [MIM:201810] HSD3B7 Q9H2F3 VAR_031040 p.Thr250Ala LB/B rs9938550 - HSD3B7 Q9H2F3 VAR_048100 p.Leu347Pro LB/B rs34212827 - HSD3B7 Q9H2F3 VAR_054775 p.Gly19Ser LP/P - Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765] HSD3B7 Q9H2F3 VAR_054776 p.Glu147Lys LP/P rs104894518 Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765] HSDL1 Q3SXM5 VAR_037693 p.Pro248Ser LB/B rs11540436 - HSDL1 Q3SXM5 VAR_037694 p.Ser327Cys LB/B rs4378600 - HSF2BP O75031 VAR_084602 p.Ser167Leu LP/P rs200655253 Premature ovarian failure 19 (POF19) [MIM:619245] HSF4 Q9ULV5 VAR_017558 p.Ala19Asp LP/P rs121909049 Cataract 5, multiple types (CTRCT5) [MIM:116800] HSF4 Q9ULV5 VAR_017559 p.Ile86Val LP/P rs121909050 Cataract 5, multiple types (CTRCT5) [MIM:116800] HSF4 Q9ULV5 VAR_017560 p.Leu114Pro LP/P rs121909048 Cataract 5, multiple types (CTRCT5) [MIM:116800] HSF4 Q9ULV5 VAR_017561 p.Arg119Cys US rs28937573 Cataract 5, multiple types (CTRCT5) [MIM:116800] HSF4 Q9ULV5 VAR_029018 p.Arg73His LP/P - Cataract 5, multiple types (CTRCT5) [MIM:116800] HSF5 Q4G112 VAR_043115 p.Thr329Asn LB/B rs1017089 - HSF5 Q4G112 VAR_055935 p.Ser473Asn LB/B rs3803752 - HSP90AA2P Q14568 VAR_039732 p.Thr235Ala LB/B rs1826330 - HSP90AA2P Q14568 VAR_039733 p.Cys312Tyr LB/B rs2726836 - HSP90AB1 P08238 VAR_049624 p.Lys349Glu LB/B rs11538975 - HSPA12B Q96MM6 VAR_049621 p.Val23Leu LB/B rs34414870 - HSPA12B Q96MM6 VAR_059362 p.Arg270His LB/B rs6139194 - HSPA14 Q0VDF9 VAR_036347 p.Ala85Val US rs374837716 A breast cancer sample HSPA1A P0DMV8 VAR_029053 p.Glu110Asp LB/B rs562047 - HSPA1B P0DMV9 VAR_029054 p.Asn499Ser LB/B rs483638 - HSPA1B P0DMV9 VAR_032152 p.Ile95Val LB/B - - HSPA1B P0DMV9 VAR_032153 p.Ala467Val LB/B rs538280104 - HSPA1L P34931 VAR_003820 p.Thr493Met LB/B rs2227956 - HSPA1L P34931 VAR_025841 p.Ala8Pro LB/B rs9469057 - HSPA1L P34931 VAR_025842 p.Ala268Thr LB/B rs34620296 - HSPA1L P34931 VAR_025843 p.Asp294Gly LB/B rs34360259 - HSPA1L P34931 VAR_025844 p.Thr479Met LB/B rs482145 - HSPA1L P34931 VAR_025845 p.Glu558Ala LB/B rs2227955 - HSPA1L P34931 VAR_025846 p.Glu602Lys LB/B rs2075800 - HSPA2 P54652 VAR_032706 p.Cys191Ser LB/B rs45456191 - HSPA2 P54652 VAR_032707 p.Lys496Glu LB/B rs45447398 - HSPA4L O95757 VAR_025405 p.Leu211Ser LB/B rs1380154 - HSPA4L O95757 VAR_031214 p.Asn216Thr LB/B rs12507229 - HSPA4L O95757 VAR_055966 p.Ile601Thr LB/B rs35518193 - HSPA5 P11021 VAR_025815 p.Asn543His LB/B rs35356639 - HSPA6 P17066 VAR_024182 p.Leu198Phe LB/B rs1079109 - HSPA6 P17066 VAR_024183 p.Asp562Glu LB/B rs753856 - HSPA6 P17066 VAR_049605 p.Ala150Thr LB/B rs10919224 - HSPA6 P17066 VAR_049606 p.Asn153Ser LB/B rs10919225 - HSPA6 P17066 VAR_049607 p.Asp154Asn LB/B rs10919226 - HSPA6 P17066 VAR_049608 p.Asn170Lys LB/B rs41297704 - HSPA6 P17066 VAR_049609 p.Arg173Pro LB/B rs41297708 - HSPA6 P17066 VAR_049610 p.Pro178Ala LB/B rs41297710 - HSPA6 P17066 VAR_049611 p.Glu194Lys LB/B rs41297714 - HSPA6 P17066 VAR_049612 p.Arg260His LB/B rs41299256 - HSPA6 P17066 VAR_049613 p.Ser464Ile LB/B rs388218 - HSPA6 P17066 VAR_049614 p.Arg471His LB/B rs41299256 - HSPA6 P17066 VAR_049615 p.Lys528Glu LB/B rs570189 - HSPA6 P17066 VAR_049616 p.Met572Val LB/B rs452004 - HSPA6 P17066 VAR_049617 p.Arg577Gln LB/B rs368844 - HSPA6 P17066 VAR_049618 p.Thr626Ala LB/B rs41299260 - HSPA6 P17066 VAR_059360 p.Val336Phe LB/B rs417707 - HSPA6 P17066 VAR_059361 p.Lys528Arg LB/B rs570167 - HSPA6 P17066 VAR_060718 p.Pro65Thr LB/B rs41297698 - HSPA6 P17066 VAR_060719 p.Arg95Gln LB/B rs400835 - HSPA6 P17066 VAR_060720 p.Ala159Val LB/B rs41297702 - HSPA6 P17066 VAR_060721 p.Thr297Lys LB/B rs41297718 - HSPA8 P11142 VAR_049619 p.Asp32Tyr LB/B rs11551602 - HSPA8 P11142 VAR_049620 p.Phe459Leu LB/B rs11551598 - HSPA9 P38646 VAR_046482 p.Gln74Arg LB/B rs17856004 - HSPA9 P38646 VAR_046483 p.His184Tyr LB/B - - HSPA9 P38646 VAR_049622 p.Arg127Gly LB/B rs35091799 - HSPA9 P38646 VAR_049623 p.Ala225Gly LB/B rs34558740 - HSPA9 P38646 VAR_076662 p.Arg126Trp LP/P rs751478142 Even-plus syndrome (EVPLS) [MIM:616854] HSPA9 P38646 VAR_076663 p.Tyr128Cys LP/P rs765368797 Even-plus syndrome (EVPLS) [MIM:616854] HSPA9 P38646 VAR_076664 p.Ser200Leu LB/B rs199715716 - HSPA9 P38646 VAR_076665 p.Ser212Pro US rs768283289 Anemia, sideroblastic, 4 (SIDBA4) [MIM:182170] HSPA9 P38646 VAR_076666 p.Gly388Ser US - Anemia, sideroblastic, 4 (SIDBA4) [MIM:182170] HSPA9 P38646 VAR_076667 p.Glu415Lys US - Anemia, sideroblastic, 4 (SIDBA4) [MIM:182170] HSPA9 P38646 VAR_076669 p.Thr539Lys LB/B - - HSPA9 P38646 VAR_076670 p.Arg573Trp LB/B rs147723579 - HSPA9 P38646 VAR_076671 p.Glu577Lys LB/B rs905439101 - HSPB1 P04792 VAR_018506 p.Arg127Trp LP/P rs29001571 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB1 P04792 VAR_018507 p.Ser135Phe LP/P rs28939680 Charcot-Marie-Tooth disease, axonal, 2F (CMT2F) [MIM:606595] HSPB1 P04792 VAR_018507 p.Ser135Phe LP/P rs28939680 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB1 P04792 VAR_018508 p.Arg136Trp LP/P rs28939681 Charcot-Marie-Tooth disease, axonal, 2F (CMT2F) [MIM:606595] HSPB1 P04792 VAR_018509 p.Thr151Ile LP/P rs28937568 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB1 P04792 VAR_018510 p.Pro182Leu LP/P rs28937569 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB1 P04792 VAR_067085 p.Thr164Ala LP/P rs1032400275 Charcot-Marie-Tooth disease, axonal, 2F (CMT2F) [MIM:606595] HSPB1 P04792 VAR_077483 p.Gly34Arg LP/P rs1554614432 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB1 P04792 VAR_077484 p.Pro39Leu LP/P rs557327165 Charcot-Marie-Tooth disease, axonal, 2F (CMT2F) [MIM:606595] HSPB1 P04792 VAR_077484 p.Pro39Leu LP/P rs557327165 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB1 P04792 VAR_077485 p.Glu41Lys LP/P rs1393404971 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB1 P04792 VAR_077486 p.Gly84Arg LP/P rs770272088 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB1 P04792 VAR_077487 p.Leu99Met LP/P rs121909113 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB1 P04792 VAR_077488 p.Arg136Leu LP/P rs863225022 Charcot-Marie-Tooth disease, axonal, 2F (CMT2F) [MIM:606595] HSPB1 P04792 VAR_077488 p.Arg136Leu LP/P rs863225022 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB1 P04792 VAR_077489 p.Arg140Gly LP/P rs121909112 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB1 P04792 VAR_077490 p.Lys141Gln LP/P rs1554614650 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB1 P04792 VAR_077491 p.Ser156Tyr LB/B rs374995963 - HSPB1 P04792 VAR_077492 p.Thr180Ile US rs1422978230 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB1 P04792 VAR_077493 p.Arg188Trp US rs772767500 Charcot-Marie-Tooth disease, axonal, 2F (CMT2F) [MIM:606595] HSPB1 P04792 VAR_077494 p.Gln190His US rs764297134 - HSPB1 P04792 VAR_078128 p.Pro7Ser LP/P rs1563651698 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB1 P04792 VAR_078129 p.Gly53Asp LP/P rs375244209 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB1 P04792 VAR_078130 p.Gln128Arg US rs558882005 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB1 P04792 VAR_078132 p.Ser187Leu LP/P rs774585320 Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] HSPB2 Q16082 VAR_016316 p.Gly111Ser LB/B rs4252589 - HSPB3 Q12988 VAR_061271 p.Gly67Ser LB/B rs35258119 - HSPB3 Q12988 VAR_063773 p.Arg7Ser LP/P rs139382018 Neuronopathy, distal hereditary motor, autosomal dominant 4 (HMND4) [MIM:613376] HSPB6 O14558 VAR_077818 p.Pro20Leu LB/B rs11549029 - HSPB8 Q9UJY1 VAR_018504 p.Lys141Glu LP/P rs104894351 Neuronopathy, distal hereditary motor, autosomal dominant 2 (HMND2) [MIM:158590] HSPB8 Q9UJY1 VAR_018505 p.Lys141Asn LP/P rs104894345 Neuronopathy, distal hereditary motor, autosomal dominant 2 (HMND2) [MIM:158590] HSPB8 Q9UJY1 VAR_042244 p.Gly67Ser US - A glioblastoma multiforme sample HSPB8 Q9UJY1 VAR_042245 p.Arg78Met LB/B rs55826713 - HSPB8 Q9UJY1 VAR_078133 p.Pro90Leu LP/P rs1565927080 Neuronopathy, distal hereditary motor, autosomal dominant 2 (HMND2) [MIM:158590] HSPB8 Q9UJY1 VAR_078134 p.Asn138Thr LP/P rs1565929080 Neuronopathy, distal hereditary motor, autosomal dominant 2 (HMND2) [MIM:158590] HSPB8 Q9UJY1 VAR_078135 p.Lys141Met LP/P rs1565929090 Neuronopathy, distal hereditary motor, autosomal dominant 2 (HMND2) [MIM:158590] HSPB9 Q9BQS6 VAR_022054 p.Gln2Pro LB/B rs1122326 - HSPBAP1 Q96EW2 VAR_031703 p.Ser64Ala LB/B rs16833517 - HSPBP1 Q9NZL4 VAR_080621 p.Gly25Val LB/B rs140649061 - HSPD1 P10809 VAR_026748 p.Val98Ile LP/P rs66468541 Spastic paraplegia 13, autosomal dominant (SPG13) [MIM:605280] HSPD1 P10809 VAR_054785 p.Asp29Gly LP/P rs72466451 Leukodystrophy, hypomyelinating, 4 (HLD4) [MIM:612233] HSPG2 P98160 VAR_014122 p.Cys1532Tyr LP/P rs137853248 Schwartz-Jampel syndrome (SJS1) [MIM:255800] HSPG2 P98160 VAR_047979 p.Asp68Glu LB/B rs1869780 - HSPG2 P98160 VAR_047980 p.Met638Val LB/B rs1874792 - HSPG2 P98160 VAR_047981 p.Asn765Ser LB/B rs989994 - HSPG2 P98160 VAR_047982 p.Arg1186Gln LB/B rs2229481 - HSPG2 P98160 VAR_047983 p.Ala1503Val LB/B rs897471 - HSPG2 P98160 VAR_047984 p.Arg1758Gln LB/B rs2229483 - HSPG2 P98160 VAR_047985 p.Arg1919Cys LB/B rs2229474 - HSPG2 P98160 VAR_047986 p.Val1967Ile LB/B rs2229475 - HSPG2 P98160 VAR_047987 p.Leu2980His LB/B rs2229489 - HSPG2 P98160 VAR_047988 p.Val2981Ile LB/B rs2229490 - HSPG2 P98160 VAR_047989 p.Ser2995Gly LB/B rs2229491 - HSPG2 P98160 VAR_047990 p.Ala3168Thr LB/B rs2228349 - HSPG2 P98160 VAR_047991 p.His3256Tyr LB/B rs2291827 - HSPG2 P98160 VAR_047992 p.Arg3530Trp LB/B rs2270699 - HSPG2 P98160 VAR_047993 p.Arg3632Gln LB/B rs2229493 - HSPG2 P98160 VAR_047994 p.Val3640Ile LB/B rs17459097 - HSPG2 P98160 VAR_047995 p.Ser4331Asn LB/B rs3736360 - HSPG2 P98160 VAR_057051 p.Leu303His LB/B rs17460381 - HSPG2 P98160 VAR_057052 p.Leu1323Val LB/B rs10917058 - HTATIP2 Q9BUP3 VAR_023713 p.Arg106Ser US - A hepatocellular carcinoma sample HTATIP2 Q9BUP3 VAR_023714 p.Asp108Tyr US - A hepatocellular carcinoma sample HTATIP2 Q9BUP3 VAR_023715 p.Ala116Thr US rs761113892 A hepatocellular carcinoma sample HTATIP2 Q9BUP3 VAR_023716 p.Gly134Val US - A hepatocellular carcinoma sample HTATIP2 Q9BUP3 VAR_023717 p.Leu144Ile US - A hepatocellular carcinoma sample HTATIP2 Q9BUP3 VAR_023718 p.Ser197Arg LB/B rs3824886 - HTATSF1 O43719 VAR_027362 p.Gly478Ala LB/B rs2071913 - HTATSF1 O43719 VAR_052206 p.Asn526Thr LB/B rs12852634 - HTATSF1 O43719 VAR_052207 p.Asp678Gly LB/B rs17339410 - HTN3 P15516 VAR_005288 p.Arg41Gln LB/B rs1136511 - HTR1A P08908 VAR_003446 p.Pro16Leu LB/B rs1800041 - HTR1A P08908 VAR_011826 p.Gly22Ser LB/B rs1799920 - HTR1A P08908 VAR_011827 p.Ile28Val LB/B rs1799921 - HTR1A P08908 VAR_011828 p.Pro184Leu LB/B rs1800043 - HTR1A P08908 VAR_011829 p.Arg220Leu LB/B rs1800044 - HTR1A P08908 VAR_011830 p.Gly273Asp LB/B rs1800042 - HTR1B P28222 VAR_011715 p.Phe124Cys LB/B rs130060 - HTR1B P28222 VAR_011831 p.Phe219Leu LB/B rs130061 - HTR1B P28222 VAR_011832 p.Ile367Val LB/B rs130063 - HTR1B P28222 VAR_011833 p.Glu374Lys LB/B rs130064 - HTR1D P28221 VAR_011834 p.Ser265Leu LB/B rs6299 - HTR1E P28566 VAR_014165 p.Ser262Phe LB/B rs6303 - HTR1E P28566 VAR_022061 p.Ala208Thr LB/B rs3828741 - HTR2A P28223 VAR_003448 p.Thr25Asn LB/B rs1805055 - HTR2A P28223 VAR_003449 p.His452Tyr LB/B rs6314 - HTR2A P28223 VAR_013901 p.Ile197Val LB/B rs6304 - HTR2A P28223 VAR_013902 p.Ala447Val LB/B rs6308 - HTR2B P41595 VAR_055907 p.Met421Val LB/B rs6736017 - HTR2B P41595 VAR_064574 p.Gln45Glu LB/B rs78484969 - HTR2B P41595 VAR_064575 p.Phe173Leu LB/B rs77570025 - HTR2B P41595 VAR_064576 p.Arg388Trp LB/B rs77982984 - HTR2C P28335 VAR_003450 p.Ser23Cys LB/B rs6318 - HTR2C P28335 VAR_010166 p.Ile156Val US - - HTR2C P28335 VAR_010167 p.Asn158Ser US - - HTR2C P28335 VAR_010168 p.Ile160Val LB/B rs781938388 - HTR3A P46098 VAR_037398 p.Ala33Thr LB/B rs117793058 - HTR3A P46098 VAR_037399 p.Ser253Asn LB/B rs4938063 - HTR3A P46098 VAR_037400 p.Arg344His LB/B rs35815285 - HTR3A P46098 VAR_037401 p.Pro391Arg LB/B - - HTR3A P46098 VAR_037402 p.Arg409Gln LB/B rs183698487 - HTR3B O95264 VAR_037472 p.Tyr129Ser LB/B rs1176744 - HTR3B O95264 VAR_037473 p.Ile143Thr LB/B rs34550504 - HTR3B O95264 VAR_037474 p.Ser156Arg LB/B rs72466469 - HTR3B O95264 VAR_037475 p.Val183Ile LB/B rs17116138 - HTR3C Q8WXA8 VAR_037476 p.Asn163Lys LB/B rs6766410 - HTR3C Q8WXA8 VAR_037477 p.Gly405Ala LB/B rs6807362 - HTR3C Q8WXA8 VAR_037552 p.Val128Met US rs142791028 A colorectal cancer sample HTR3D Q70Z44 VAR_037478 p.Ala171Gly LB/B rs6443930 - HTR3D Q70Z44 VAR_037479 p.Arg225His LB/B rs1000952 - HTR3D Q70Z44 VAR_037480 p.Arg435His LB/B rs6789754 - HTR3E A5X5Y0 VAR_037481 p.Ala71Thr LB/B rs7627615 - HTR3E A5X5Y0 VAR_037482 p.Ala430Thr LB/B rs13324468 - HTR4 Q13639 VAR_049364 p.Cys372Tyr LB/B rs34826744 - HTR4 Q13639 VAR_067412 p.Ser27Leu US rs199508638 - HTR5A P47898 VAR_035753 p.Arg262Cys US rs746290830 A colorectal cancer sample HTR7 P34969 VAR_012995 p.Thr92Lys LB/B rs1379762209 - HTR7 P34969 VAR_012996 p.Pro279Leu LB/B rs114969659 - HTR7 P34969 VAR_049365 p.Pro448Gln LB/B rs33954285 - HTRA1 Q92743 VAR_063148 p.Ala252Thr LP/P rs113993968 Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142] HTRA1 Q92743 VAR_063149 p.Val297Met LP/P rs113993969 Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142] HTRA1 Q92743 VAR_076371 p.Ala20Val LB/B rs369149111 - HTRA1 Q92743 VAR_076372 p.Glu51Gly LB/B - - HTRA1 Q92743 VAR_076373 p.Ser121Arg LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779] HTRA1 Q92743 VAR_076374 p.Ala123Ser LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779] HTRA1 Q92743 VAR_076375 p.Arg133Gly LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779] HTRA1 Q92743 VAR_076376 p.Arg166Leu LP/P rs864622781 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779] HTRA1 Q92743 VAR_076377 p.Ala173Pro LP/P rs781563777 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779] HTRA1 Q92743 VAR_076378 p.Ser284Gly LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779] HTRA1 Q92743 VAR_076379 p.Ser284Arg LP/P rs864622782 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779] HTRA1 Q92743 VAR_076380 p.Pro285Gln LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779] HTRA1 Q92743 VAR_076381 p.Phe286Val LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779] HTRA1 Q92743 VAR_076382 p.Asp450His US rs772225907 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779] HTRA2 O43464 VAR_027349 p.Ala141Ser LB/B rs72470544 - HTRA2 O43464 VAR_027350 p.Gly399Ser LB/B rs72470545 - HTRA2 O43464 VAR_046134 p.Leu72Pro LB/B rs150047108 - HTRA2 O43464 VAR_046135 p.Arg404Trp LP/P rs1380794702 Parkinson disease 13 (PARK13) [MIM:610297] HTRA2 O43464 VAR_076967 p.Trp12Cys LB/B rs775840965 - HTRA2 O43464 VAR_076968 p.Pro128Leu LB/B rs757704467 - HTRA2 O43464 VAR_076969 p.Ala227Ser LB/B rs375322953 - HTRA2 O43464 VAR_077961 p.Arg404Gln LP/P rs767006508 3-methylglutaconic aciduria 8 (MGCA8) [MIM:617248] HTT P42858 VAR_054017 p.Glu1382Ala LB/B rs3025837 - HTT P42858 VAR_060170 p.Gly893Arg LB/B rs363075 - HTT P42858 VAR_060171 p.Val1064Ile LB/B rs35892913 - HTT P42858 VAR_060172 p.Ile1091Met LB/B rs1143646 - HTT P42858 VAR_060173 p.Thr1173Ala LB/B rs3025843 - HTT P42858 VAR_060174 p.Thr1260Met US rs34315806 - HTT P42858 VAR_060175 p.Asn1385His LB/B rs3025837 - HTT P42858 VAR_060176 p.Thr1720Asn LB/B rs363125 - HTT P42858 VAR_060177 p.Asp2113Tyr LB/B rs1143648 - HTT P42858 VAR_060178 p.Tyr2309His LB/B rs362331 - HTT P42858 VAR_060179 p.Val2786Ile LB/B rs362272 - HTT P42858 VAR_079026 p.Pro703Leu LP/P rs768047421 Lopes-Maciel-Rodan syndrome (LOMARS) [MIM:617435] HTT P42858 VAR_079027 p.Phe2717Leu LP/P rs1085307052 Lopes-Maciel-Rodan syndrome (LOMARS) [MIM:617435] HTT P42858 VAR_081737 p.Gly551Glu LB/B rs118005095 - HUNK P57058 VAR_040561 p.Arg157Trp LB/B rs35133981 - HUNK P57058 VAR_040562 p.Arg591Cys LB/B rs10775648 - HUNK P57058 VAR_040563 p.Glu625Lys LB/B rs56021554 - HUNK P57058 VAR_040564 p.Met648Thr LB/B rs56240027 - HUS1 O60921 VAR_025414 p.Gln147Lys LB/B rs2307254 - HUS1 O60921 VAR_025415 p.Asp221Glu LB/B rs3176588 - HUS1 O60921 VAR_033999 p.Ser126Gly LB/B rs2307261 - HUS1B Q8NHY5 VAR_025497 p.Asp268Tyr LB/B rs1211554 - HUS1B Q8NHY5 VAR_031206 p.His130Gln LB/B rs1766848 - HUS1B Q8NHY5 VAR_031207 p.Gln201Arg LB/B rs17136239 - HUWE1 Q7Z6Z7 VAR_045670 p.Arg2981His LP/P rs121918526 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_045671 p.Arg4013Trp LP/P rs121918525 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_045672 p.Arg4187Cys LP/P rs121918527 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_061986 p.Asn483Ser LB/B rs41307640 - HUWE1 Q7Z6Z7 VAR_076253 p.Val950Asp US - - HUWE1 Q7Z6Z7 VAR_082247 p.Arg110Gln LP/P rs1557036768 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082248 p.Arg110Trp LP/P rs1057520538 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082249 p.Ser115Phe LP/P rs1557036757 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082250 p.Gly660Arg LP/P rs1557006903 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082251 p.His669Gln LP/P rs1557006873 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082252 p.Met1328Val LP/P rs1556978515 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082253 p.Ile2089Met LP/P rs1556955128 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082254 p.Arg3070Cys LP/P rs886041876 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082255 p.Phe3194Ser LP/P - Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082256 p.Arg4023Cys LP/P rs1556914274 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082257 p.Arg4063Gln LP/P - Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082258 p.Ile4069Phe LP/P rs1556913268 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082259 p.Asn4075Lys LP/P rs1556913258 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082260 p.Tyr4106Cys LP/P rs1556913180 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082261 p.Leu4157Val LP/P rs1556912828 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082262 p.Glu4244Asp LP/P rs1556910184 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082263 p.Lys4295Asn LP/P - Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1 Q7Z6Z7 VAR_082264 p.Gly4310Arg LP/P rs1556909287 Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HVCN1 Q96D96 VAR_088737 p.Met91Thr LB/B rs76006664 - HYAL1 Q12794 VAR_023643 p.Glu268Lys LP/P rs104893743 Mucopolysaccharidosis 9 (MPS9) [MIM:601492] HYAL2 Q12891 VAR_028170 p.Ser18Ala LB/B rs709210 - HYAL2 Q12891 VAR_061193 p.Ile418Leu LB/B rs35455589 - HYAL3 O43820 VAR_027263 p.His113Tyr LB/B rs13100173 - HYAL4 Q2M3T9 VAR_034936 p.Ala346Ser LB/B rs6949082 - HYCC1 Q9BYI3 VAR_030647 p.Leu53Pro LP/P rs72549407 Leukodystrophy, hypomyelinating, 5 (HLD5) [MIM:610532] HYCC1 Q9BYI3 VAR_075100 p.Cys57Arg LP/P - Leukodystrophy, hypomyelinating, 5 (HLD5) [MIM:610532] HYCC1 Q9BYI3 VAR_079751 p.Arg217Gln LB/B rs192409840 - HYDIN Q4G0P3 VAR_031837 p.Arg451Pro LB/B rs7200485 - HYDIN Q4G0P3 VAR_031838 p.Thr584Asn LB/B rs7200126 - HYDIN Q4G0P3 VAR_031839 p.Thr690Ala LB/B rs10744982 - HYDIN Q4G0P3 VAR_031840 p.Asn724Asp LB/B rs3817211 - HYDIN Q4G0P3 VAR_051036 p.Val1718Met LB/B rs783762 - HYDIN Q4G0P3 VAR_051037 p.Arg1892His LB/B rs783732 - HYDIN Q4G0P3 VAR_051038 p.Arg1952Gln LB/B rs17321570 - HYDIN Q4G0P3 VAR_051039 p.Val2099Met LB/B rs1798337 - HYDIN Q4G0P3 VAR_051040 p.Gln2276Arg LB/B rs1815707 - HYDIN Q4G0P3 VAR_051041 p.Glu2306Gly LB/B rs2502726 - HYDIN Q4G0P3 VAR_051042 p.Asn2445Ile LB/B rs1798532 - HYDIN Q4G0P3 VAR_051043 p.Leu2502Ser LB/B rs1798529 - HYDIN Q4G0P3 VAR_051044 p.Gly2558Glu LB/B rs8044142 - HYDIN Q4G0P3 VAR_051045 p.Lys2589Arg LB/B rs1774395 - HYDIN Q4G0P3 VAR_051046 p.Pro2932Leu LB/B rs11075812 - HYDIN Q4G0P3 VAR_051047 p.Glu2937Lys LB/B rs8047935 - HYDIN Q4G0P3 VAR_051048 p.Arg2939Lys LB/B rs7188837 - HYDIN Q4G0P3 VAR_051049 p.Glu2994Gly LB/B rs12102425 - HYDIN Q4G0P3 VAR_051050 p.Thr3116Arg LB/B rs1774423 - HYDIN Q4G0P3 VAR_051051 p.Tyr3269Asp LB/B rs7197263 - HYDIN Q4G0P3 VAR_051052 p.Arg3811His LB/B rs13338821 - HYDIN Q4G0P3 VAR_051053 p.Val3899Met LB/B rs1626593 - HYDIN Q4G0P3 VAR_051054 p.Ala4026Thr LB/B rs11075798 - HYDIN Q4G0P3 VAR_051055 p.Lys4088Arg LB/B rs1774416 - HYDIN Q4G0P3 VAR_051056 p.His4270Tyr LB/B rs1891343 - HYDIN Q4G0P3 VAR_051058 p.Asn4606Lys LB/B rs783898 - HYDIN Q4G0P3 VAR_059667 p.Ile1077Val LB/B rs6416709 - HYDIN Q4G0P3 VAR_059668 p.Val1228Leu LB/B rs1774513 - HYDIN Q4G0P3 VAR_059669 p.Ile1534Val LB/B rs1774303 - HYDIN Q4G0P3 VAR_059670 p.Arg2087Cys LB/B rs1774541 - HYDIN Q4G0P3 VAR_059671 p.Gln2242Arg LB/B rs2258307 - HYDIN Q4G0P3 VAR_059672 p.Arg2298Gly LB/B rs1774360 - HYDIN Q4G0P3 VAR_059673 p.Lys2530Glu LB/B rs1798528 - HYDIN Q4G0P3 VAR_059674 p.Asp2570Asn LB/B rs8044001 - HYDIN Q4G0P3 VAR_059675 p.Ile2694Ser LB/B rs1774449 - HYDIN Q4G0P3 VAR_059676 p.Ala3291Pro LB/B rs1798440 - HYDIN Q4G0P3 VAR_059677 p.Leu3316Pro LB/B rs1774331 - HYDIN Q4G0P3 VAR_059678 p.Ala3739Thr LB/B rs1774504 - HYDIN Q4G0P3 VAR_059679 p.Val3742Ile LB/B rs1798413 - HYDIN Q4G0P3 VAR_059680 p.Val3840Leu LB/B rs1798325 - HYDIN Q4G0P3 VAR_059681 p.Met3869Arg LB/B rs7192347 - HYDIN Q4G0P3 VAR_059682 p.Thr4005Ala LB/B rs1539302 - HYDIN Q4G0P3 VAR_059683 p.Glu4160Gln LB/B rs1798314 - HYDIN Q4G0P3 VAR_059684 p.Ser4363Cys LB/B rs1770434 - HYDIN Q4G0P3 VAR_059685 p.Lys4412Glu LB/B rs1774480 - HYDIN Q4G0P3 VAR_059686 p.Met4552Leu LB/B rs1770442 - HYDIN Q4G0P3 VAR_059687 p.Arg4869Gln LB/B rs2795652 - HYDIN Q4G0P3 VAR_061666 p.Pro2455Gln LB/B rs1798531 - HYI Q5T013 VAR_032611 p.Asp239Asn LB/B rs17850049 - HYLS1 Q96M11 VAR_031866 p.Cys31Arg LB/B rs667782 - HYLS1 Q96M11 VAR_031867 p.Asp211Gly LP/P rs104894232 Hydrolethalus syndrome 1 (HLS1) [MIM:236680] HYOU1 Q9Y4L1 VAR_081773 p.Tyr231His US - Immunodeficiency 59 and hypoglycemia (IMD59) [MIM:233600] HYOU1 Q9Y4L1 VAR_081774 p.Ala419Pro US - Immunodeficiency 59 and hypoglycemia (IMD59) [MIM:233600] HYPK Q9NX55 VAR_030335 p.Ser97Pro LB/B rs12702 - IAPP P10997 VAR_012080 p.Ser53Gly LB/B rs1800203 - IARS1 P41252 VAR_057951 p.Met769Ile LB/B - - IARS1 P41252 VAR_057952 p.Lys1182Glu LB/B rs556155 - IARS1 P41252 VAR_058300 p.Thr684Met LB/B rs2070053 - IARS1 P41252 VAR_071387 p.Asn302Tyr LB/B rs140666586 - IARS1 P41252 VAR_071388 p.Met1188Thr LB/B rs201071417 - IARS1 P41252 VAR_077055 p.Val370Gly LP/P rs886037876 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) [MIM:617093] IARS1 P41252 VAR_077056 p.Pro437Leu LP/P rs886037874 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) [MIM:617093] IARS1 P41252 VAR_077057 p.Asn992Asp LP/P rs886037877 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) [MIM:617093] IARS1 P41252 VAR_077058 p.Ile1174Asn LP/P rs886037873 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) [MIM:617093] IARS2 Q9NSE4 VAR_034526 p.Ile522Val LB/B rs11800305 - IARS2 Q9NSE4 VAR_059862 p.Ala14Val LB/B rs2577154 - IARS2 Q9NSE4 VAR_072590 p.Glu708Lys US rs143722284 - IARS2 Q9NSE4 VAR_072591 p.Pro909Leu US rs587783070 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) [MIM:616007] IARS2 Q9NSE4 VAR_083400 p.Phe227Ser US rs1571845061 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) [MIM:616007] IARS2 Q9NSE4 VAR_083401 p.His761Arg US rs1571863769 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) [MIM:616007] IARS2 Q9NSE4 VAR_083402 p.Arg817His US rs146618526 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) [MIM:616007] IARS2 Q9NSE4 VAR_083403 p.Gly874Arg US rs151241066 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) [MIM:616007] IARS2 Q9NSE4 VAR_083404 p.Pro909Ser US rs1571865562 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) [MIM:616007] IARS2 Q9NSE4 VAR_084826 p.Gly203Arg US rs1428331445 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) [MIM:616007] IARS2 Q9NSE4 VAR_084828 p.Phe859Leu US rs199840959 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) [MIM:616007] IBA57 Q5T440 VAR_030794 p.Gly211Ser LB/B rs2298014 - IBA57 Q5T440 VAR_069821 p.Gln314Pro LP/P rs587777016 Multiple mitochondrial dysfunctions syndrome 3 (MMDS3) [MIM:615330] IBSP P21815 VAR_056579 p.Thr256Ala LB/B rs17013182 - IBSP P21815 VAR_056580 p.Ala268Val LB/B rs1054628 - IBSP P21815 VAR_058014 p.Gly195Glu LB/B rs1054627 - IBSP P21815 VAR_058015 p.Asp213Gly LB/B rs13144371 - IBSP P21815 VAR_058016 p.Arg219Gly LB/B rs17013181 - IBSP P21815 VAR_058017 p.Glu270Asp LB/B rs1054629 - IBTK Q9P2D0 VAR_031106 p.Val1065Ile LB/B rs12662902 - IBTK Q9P2D0 VAR_031107 p.Ala1185Val LB/B rs9449444 - ICAM1 P05362 VAR_010204 p.Lys56Met LB/B rs5491 - ICAM1 P05362 VAR_014186 p.Gly241Arg LB/B rs1799969 - ICAM1 P05362 VAR_014187 p.Lys469Glu LB/B rs5498 - ICAM1 P05362 VAR_014651 p.Lys155Asn LB/B rs5492 - ICAM1 P05362 VAR_014652 p.Val315Met LB/B rs5495 - ICAM1 P05362 VAR_014653 p.Pro352Leu LB/B rs1801714 - ICAM1 P05362 VAR_014654 p.Arg397Gln LB/B rs5497 - ICAM1 P05362 VAR_016267 p.Arg478Trp LB/B rs5030400 - ICAM2 P13598 VAR_014655 p.Ala37Thr LB/B rs5503 - ICAM2 P13598 VAR_014656 p.Arg199His LB/B rs5504 - ICAM2 P13598 VAR_021920 p.Arg256Gln LB/B rs3764867 - ICAM3 P32942 VAR_024498 p.Ser525Thr LB/B rs2230399 - ICAM3 P32942 VAR_046547 p.Ile63Val LB/B rs17697947 - ICAM3 P32942 VAR_046548 p.Asp143Gly LB/B rs2304237 - ICAM3 P32942 VAR_059394 p.Arg115Gly LB/B rs7258015 - ICAM4 Q14773 VAR_003912 p.Gln100Arg LB/B rs77493670 - ICAM4 Q14773 VAR_038721 p.Val208Leu LB/B rs36023325 - ICAM5 Q9UMF0 VAR_035515 p.Leu140Val US - A breast cancer sample ICAM5 Q9UMF0 VAR_035516 p.Arg188Trp US - A breast cancer sample ICAM5 Q9UMF0 VAR_035517 p.Glu488Gln US - A breast cancer sample ICAM5 Q9UMF0 VAR_056046 p.Val301Ile LB/B rs1056538 - ICAM5 Q9UMF0 VAR_056047 p.Ala348Thr LB/B rs2228615 - ICE1 Q9Y2F5 VAR_033341 p.Cys391Ser LB/B rs2619844 - ICE1 Q9Y2F5 VAR_033342 p.Lys596Glu LB/B rs10475299 - ICE1 Q9Y2F5 VAR_033343 p.Val901Ile LB/B rs2578500 - ICE1 Q9Y2F5 VAR_033344 p.Thr1054Ala LB/B rs3806873 - ICE1 Q9Y2F5 VAR_033345 p.Gly1058Asp LB/B rs3806874 - ICE1 Q9Y2F5 VAR_033346 p.Gln1597Pro LB/B rs10065646 - ICE1 Q9Y2F5 VAR_055943 p.Pro1618Leu LB/B rs3747731 - ICOSLG O75144 VAR_049880 p.Val128Ile LB/B rs11558819 - ID1 P41134 VAR_049544 p.Asn63Asp LB/B rs1802548 - ID3 Q02535 VAR_016122 p.Thr105Ala LB/B rs11574 - ID3 Q02535 VAR_030739 p.Ser111Ala LB/B rs11542317 - IDH1 O75874 VAR_036013 p.Arg132Cys US rs121913499 Colorectal cancer IDH1 O75874 VAR_036013 p.Arg132Cys US rs121913499 Glioma samples IDH1 O75874 VAR_049780 p.Val178Ile LB/B rs34218846 - IDH1 O75874 VAR_055454 p.Arg132Gly US rs121913499 A glioma sample IDH1 O75874 VAR_055455 p.Arg132His US rs121913500 A glioma sample IDH1 O75874 VAR_055456 p.Arg132Leu US rs121913500 A glioma sample IDH1 O75874 VAR_055457 p.Arg132Ser US rs121913499 A glioma sample IDH2 P48735 VAR_065174 p.Arg140Gly LP/P rs267606870 D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657] IDH2 P48735 VAR_065175 p.Arg140Gln LP/P rs121913502 D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657] IDH2 P48735 VAR_073181 p.Pro158Leu LP/P - Glioma (GLM) [MIM:137800] IDH2 P48735 VAR_073182 p.Pro162Ser LP/P - Glioma (GLM) [MIM:137800] IDH2 P48735 VAR_073183 p.Arg172Gly LP/P rs1057519906 Glioma (GLM) [MIM:137800] IDH2 P48735 VAR_073184 p.Arg172Lys LP/P rs121913503 Glioma (GLM) [MIM:137800] IDH2 P48735 VAR_073185 p.Arg172Met LP/P rs121913503 Glioma (GLM) [MIM:137800] IDH2 P48735 VAR_076512 p.Arg172Ser LB/B rs1057519736 - IDH2 P48735 VAR_076513 p.Arg172Thr US - - IDH2 P48735 VAR_076514 p.Arg172Trp LB/B rs1057519906 - IDH3A P50213 VAR_084723 p.Ala122Thr US rs756333430 Retinitis pigmentosa 90 (RP90) [MIM:619007] IDH3A P50213 VAR_084725 p.Ala175Val US rs765473830 Retinitis pigmentosa 90 (RP90) [MIM:619007] IDH3A P50213 VAR_084726 p.Met204Ile US - Retinitis pigmentosa 90 (RP90) [MIM:619007] IDH3A P50213 VAR_084727 p.Met239Thr US rs2074707744 Retinitis pigmentosa 90 (RP90) [MIM:619007] IDH3A P50213 VAR_084728 p.Pro304His US rs756712426 Retinitis pigmentosa 90 (RP90) [MIM:619007] IDH3A P50213 VAR_084729 p.Met313Thr US rs149862950 Retinitis pigmentosa 90 (RP90) [MIM:619007] IDH3A P50213 VAR_084730 p.Arg316Cys US rs770798851 Retinitis pigmentosa 90 (RP90) [MIM:619007] IDH3B O43837 VAR_022660 p.Ala3Val LB/B rs3178817 - IDH3B O43837 VAR_049781 p.Gln166His LB/B rs11542741 - IDH3B O43837 VAR_054851 p.Leu132Pro LP/P rs137853020 Retinitis pigmentosa 46 (RP46) [MIM:612572] IDH3B O43837 VAR_056005 p.Thr360Ala LB/B rs8296 - IDNK Q5T6J7 VAR_042433 p.Lys185Thr LB/B rs1052690 - IDO1 P14902 VAR_053368 p.Ala4Thr LB/B rs35059413 - IDO2 Q6ZQW0 VAR_032007 p.Arg235Trp LB/B rs10109853 - IDS P22304 VAR_007313 p.Asp45Asn LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007314 p.Arg48Pro LP/P rs1569560528 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007315 p.Tyr54Asp LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007316 p.Asn63Asp LP/P rs193302909 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007317 p.Ala68Glu LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007318 p.Ala79Glu LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007319 p.Ala85Thr LP/P rs113993949 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007320 p.Pro86Leu LP/P rs1557340280 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007321 p.Pro86Gln LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007322 p.Pro86Arg LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007323 p.Ser87Asn LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007324 p.Arg88Cys LP/P rs398123249 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007325 p.Arg88His LP/P rs2089497431 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007326 p.Arg88Leu LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007327 p.Arg88Pro LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007328 p.Leu92Pro LP/P rs2089497300 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007329 p.Gly94Asp LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007330 p.Leu102Arg LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007331 p.Tyr108Cys LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007332 p.Asn115Tyr LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007333 p.Thr118Ile LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007334 p.Pro120His LP/P rs193302911 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007335 p.Pro120Arg LP/P rs193302911 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007336 p.Glu125Val LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007337 p.Ser132Trp LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007338 p.Gly134Arg LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007339 p.Lys135Asn LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007340 p.Lys135Arg LP/P rs104894861 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007341 p.Ser143Phe LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007342 p.His159Pro LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007344 p.Pro160Arg LP/P rs104894856 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007345 p.Cys184Phe LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007346 p.Cys184Trp LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007347 p.Leu196Ser LP/P rs398123250 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007348 p.Asp198Gly LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007349 p.Leu221Pro LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007350 p.Gly224Glu LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007351 p.Tyr225Asp LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007352 p.Lys227Gln LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007353 p.Pro228Leu LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007354 p.His229Tyr LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007355 p.Asp252Asn LP/P rs146458524 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007356 p.Pro266His LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007357 p.Pro266Arg LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007358 p.Asp269Val LP/P rs1085308006 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007359 p.Gln293His LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007360 p.Ser333Leu LP/P rs104894853 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007361 p.Trp337Arg LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007362 p.Gly340Asp LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007363 p.Trp345Cys LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007364 p.Ala346Asp LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007365 p.Ala346Val LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007366 p.Lys347Ile LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007367 p.Lys347Thr LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007368 p.Tyr348His LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007369 p.Ser349Ile LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007370 p.Pro358Arg LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007371 p.Leu403Arg LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007372 p.Cys422Gly LP/P rs199422229 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007373 p.Cys432Tyr LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007374 p.Glu434Lys LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007375 p.Arg468Gly LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007376 p.Arg468Leu LP/P rs113993946 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007377 p.Arg468Gln LP/P rs113993946 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007378 p.Arg468Trp LP/P rs199422231 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007379 p.Pro469His LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007380 p.Asp478Gly LP/P rs864622773 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007381 p.Asp478Tyr LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007382 p.Ile485Lys LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007383 p.Ile485Arg LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007384 p.Trp502Cys LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007385 p.Trp502Ser LP/P rs199422228 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007386 p.Glu521Val LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_007387 p.Tyr523Cys LP/P rs2089303696 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_008134 p.Glu341Lys LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_008135 p.His342Tyr LP/P rs2089343220 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_008136 p.Ser491Phe LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_008998 p.Ser71Arg LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_008999 p.Ala82Glu LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_009001 p.Tyr264Asn LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_009002 p.Asp334Gly LP/P rs2089378583 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_009003 p.Gln465Pro LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026915 p.Leu41Pro LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026916 p.Ser71Asn LP/P rs113993954 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026917 p.Leu73Phe LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026918 p.Ala82Val LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026919 p.Ala85Ser LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026920 p.Arg88Gly LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026921 p.Val89Phe LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026922 p.Arg95Gly LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026923 p.Arg95Thr LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026924 p.Tyr108Ser LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026926 p.Ser117Tyr LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026928 p.Gln121His LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026929 p.Gln121Arg LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026930 p.His138Asp LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026931 p.Gly140Val LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026932 p.Asp148His LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026933 p.Asn181Ile LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026934 p.Leu182Pro LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026935 p.Ala205Pro LP/P rs864622779 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026936 p.Lys227Met LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026937 p.Pro228Thr LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026938 p.His229Arg LP/P rs193302905 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026939 p.Pro231Leu LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026940 p.Leu259Pro LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026941 p.Asn265Ile LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026942 p.Ser299Ile LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026943 p.Asp308Glu LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026944 p.Asp308Asn LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026945 p.Thr309Ala LP/P rs145807417 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026946 p.Arg313Cys US rs201048643 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026947 p.Leu314Pro LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026948 p.Asp334Asn LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026949 p.His335Arg LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026950 p.Gly336Glu LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026951 p.Gly336Arg LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026952 p.Leu339Arg LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026953 p.Lys347Gln LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026954 p.Leu410Pro LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026955 p.Cys422Arg LP/P rs199422229 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026956 p.Pro467Leu LP/P rs1602725808 Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026957 p.Pro480Leu LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026958 p.Pro480Gln LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026959 p.Pro480Arg LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026961 p.Tyr490Ser LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDS P22304 VAR_026962 p.Glu521Lys LP/P - Mucopolysaccharidosis 2 (MPS2) [MIM:309900] IDUA P35475 VAR_003350 p.His33Gln LB/B rs10794537 - IDUA P35475 VAR_003351 p.Gly51Asp LP/P rs794726877 Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003352 p.Ala75Thr LP/P rs758452450 Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003353 p.His82Pro LP/P rs794727239 Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_003354 p.Arg89Gln LP/P rs121965029 Mucopolysaccharidosis 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_003355 p.Arg89Trp LP/P rs754966840 Mucopolysaccharidosis 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_003356 p.Arg105Gln LB/B rs3755955 - IDUA P35475 VAR_003357 p.Gly116Arg LB/B rs148946496 - IDUA P35475 VAR_003358 p.Leu218Pro LP/P rs869025584 Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003359 p.Val279Ala LB/B - - IDUA P35475 VAR_003360 p.Asp315Tyr LP/P - Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003361 p.Ala327Pro LP/P rs199801029 Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003362 p.Asp349Asn LP/P rs368454909 Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003364 p.Ala361Thr LB/B rs6831280 - IDUA P35475 VAR_003365 p.Thr366Pro LP/P rs121965024 Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003366 p.Gln380Arg LP/P rs762903007 Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_003366 p.Gln380Arg LP/P rs762903007 Mucopolysaccharidosis 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_003367 p.Arg383His LP/P rs754949360 Mucopolysaccharidosis 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_003368 p.Thr388Arg LP/P rs794727896 Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003370 p.Gly409Arg LP/P rs11934801 Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003372 p.Val454Ile LB/B rs73066479 - IDUA P35475 VAR_003373 p.Arg489Pro LP/P - Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003374 p.Leu490Pro LP/P rs121965027 Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_003374 p.Leu490Pro LP/P rs121965027 Mucopolysaccharidosis 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_003375 p.Arg492Pro LP/P rs121965026 Mucopolysaccharidosis 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_003376 p.Pro496Leu LP/P rs772416503 Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_003377 p.Met504Thr LP/P - Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_003378 p.Pro533Arg LP/P rs121965021 Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003378 p.Pro533Arg LP/P rs121965021 Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_003379 p.Trp626Arg LP/P rs1281475543 Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_017435 p.Ala300Thr LB/B rs121965030 - IDUA P35475 VAR_017436 p.Leu346Arg LP/P rs121965033 Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_017437 p.Arg619Gly LP/P rs121965031 Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_020975 p.Ala79Val LP/P rs747981483 Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_020976 p.His82Gln LB/B rs148775298 - IDUA P35475 VAR_020977 p.Met133Ile LP/P rs558683362 Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_020978 p.Glu182Lys LP/P rs754154200 Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_020979 p.Gly208Asp LP/P rs1430681871 Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_020980 p.Leu238Gln LP/P rs148789453 Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_020981 p.Ser260Phe LP/P - Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_020982 p.Asp349Tyr LP/P - Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_020983 p.Asn350Ile LP/P - Mucopolysaccharidosis 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_020984 p.Arg363Cys LP/P rs750496798 Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_020985 p.Ser423Arg LP/P rs931627770 Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_020985 p.Ser423Arg LP/P rs931627770 Mucopolysaccharidosis 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_020986 p.Phe602Ile LP/P - Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_020987 p.Arg628Pro LP/P rs200448421 Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_066215 p.Tyr76Cys LP/P rs780165694 Mucopolysaccharidosis 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_066216 p.Gly84Arg LP/P - Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_066217 p.Thr103Pro US - Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_066218 p.Glu178Lys LP/P rs992336192 Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_066219 p.Phe188Leu LP/P - Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_066220 p.Gly219Glu LP/P rs1230234600 Mucopolysaccharidosis 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_066221 p.Gly265Arg LP/P rs369090960 Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_066222 p.Glu276Lys LP/P - Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_066222 p.Glu276Lys LP/P - Mucopolysaccharidosis 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_066223 p.Trp306Leu LP/P - Mucopolysaccharidosis 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_066224 p.Asn348Lys LP/P rs746766617 Mucopolysaccharidosis 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_066225 p.Pro385Arg LP/P rs1553917309 Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_066226 p.Leu396Pro LP/P - Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_066227 p.Ala436Pro LP/P - Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_066228 p.His449Asn LB/B rs532731688 - IDUA P35475 VAR_066229 p.Pro496Arg LP/P rs772416503 Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_066230 p.Leu535Phe LP/P - Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_066231 p.Ala591Thr LB/B rs398123257 - IDUA P35475 VAR_072367 p.Leu18Pro LP/P rs794726878 Mucopolysaccharidosis 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_072368 p.Val620Phe LP/P - Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] IER2 Q9BTL4 VAR_057581 p.Ala133Val LB/B rs1042164 - IER3 P46695 VAR_058496 p.Ala127Pro LB/B rs3094124 - IER3IP1 Q9Y5U9 VAR_066569 p.Val21Gly LP/P rs387907011 Microcephaly, epilepsy, and diabetes syndrome 1 (MEDS1) [MIM:614231] IER3IP1 Q9Y5U9 VAR_066570 p.Leu78Pro LP/P rs387907012 Microcephaly, epilepsy, and diabetes syndrome 1 (MEDS1) [MIM:614231] IER5 Q5VY09 VAR_028404 p.Arg92His LB/B rs3747955 - IER5 Q5VY09 VAR_028405 p.Val168Ile LB/B rs3747954 - IER5 Q5VY09 VAR_028406 p.Arg194Gly LB/B rs1416829 - IER5 Q5VY09 VAR_028407 p.Gln202Arg LB/B rs1361365 - IER5 Q5VY09 VAR_028408 p.Pro285Ser LB/B rs3747951 - IER5L Q5T953 VAR_043450 p.Pro105Ser LB/B rs184457 - IFI16 Q16666 VAR_029486 p.Asp103His LB/B rs1057018 - IFI16 Q16666 VAR_029487 p.Ser179Thr LB/B rs866484 - IFI16 Q16666 VAR_029488 p.Lys202Glu LB/B rs11585341 - IFI16 Q16666 VAR_029489 p.Arg409Ser LB/B rs1057027 - IFI16 Q16666 VAR_029490 p.Tyr413Asn LB/B rs1057028 - IFI16 Q16666 VAR_029491 p.Thr723Ser LB/B rs6940 - IFI16 Q16666 VAR_057582 p.Thr779Ser LB/B rs6940 - IFI27 P40305 VAR_028066 p.Ser109Phe LB/B rs2227974 - IFI27L1 Q96BM0 VAR_062245 p.Gly35Ser LB/B rs57677258 - IFI35 P80217 VAR_063758 p.Met126Val LB/B rs588703 - IFI44 Q8TCB0 VAR_054647 p.Trp9Arg LB/B rs2070123 - IFI44L Q53G44 VAR_043726 p.Met390Ile LB/B rs35466823 - IFI44L Q53G44 VAR_054648 p.His73Arg LB/B rs273259 - IFI44L Q53G44 VAR_054649 p.Ala104Thr LB/B rs34932081 - IFI44L Q53G44 VAR_054650 p.Arg148Cys LB/B rs273258 - IFI44L Q53G44 VAR_054651 p.Val217Ile LB/B rs3820093 - IFI44L Q53G44 VAR_054652 p.Ile235Thr LB/B rs987495 - IFI44L Q53G44 VAR_054653 p.Arg296Cys LB/B rs1981071 - IFIH1 Q9BYX4 VAR_021594 p.His843Arg LB/B rs3747517 - IFIH1 Q9BYX4 VAR_021595 p.Ala946Thr LB/B rs1990760 - IFIH1 Q9BYX4 VAR_031226 p.His460Arg LB/B rs10930046 - IFIH1 Q9BYX4 VAR_071375 p.Arg337Gly LP/P rs587777447 Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846] IFIH1 Q9BYX4 VAR_071376 p.Leu372Phe LP/P rs587777576 Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846] IFIH1 Q9BYX4 VAR_071377 p.Asp393Val LP/P rs587777449 Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846] IFIH1 Q9BYX4 VAR_071378 p.Ala452Thr LP/P rs587777575 Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846] IFIH1 Q9BYX4 VAR_071379 p.Gly495Arg LP/P rs672601336 Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846] IFIH1 Q9BYX4 VAR_071380 p.Arg720Gln LP/P rs587777445 Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846] IFIH1 Q9BYX4 VAR_071381 p.Arg779Cys LP/P rs587777448 Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846] IFIH1 Q9BYX4 VAR_071382 p.Arg779His LP/P rs587777446 Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846] IFIH1 Q9BYX4 VAR_073666 p.Arg822Gln LP/P rs376048533 Singleton-Merten syndrome 1 (SGMRT1) [MIM:182250] IFIH1 Q9BYX4 VAR_087007 p.Lys365Glu LP/P - Immunodeficiency 95 (IMD95) [MIM:619773] IFIT1 P09914 VAR_052614 p.Pro131His LB/B rs11553019 - IFIT1B Q5T764 VAR_052617 p.Leu188Pro LB/B rs7072728 - IFIT2 P09913 VAR_014490 p.Asp352Glu LB/B rs1727 - IFIT2 P09913 VAR_052615 p.Glu79Ala LB/B rs17468739 - IFIT2 P09913 VAR_052616 p.Lys121Arg LB/B rs2070845 - IFITM1 P13164 VAR_047422 p.Pro13Ala LB/B rs9667990 - IFITM2 Q01629 VAR_014848 p.Met41Thr LB/B rs14408 - IFITM2 Q01629 VAR_060470 p.Ile121Val LB/B rs1059091 - IFITM2 Q01629 VAR_062677 p.Val33Ala LB/B rs1058900 - IFITM3 Q01628 VAR_053810 p.His3Gln LB/B rs1136853 - IFITM5 A6NNB3 VAR_062170 p.Gly27Ala LB/B rs57285449 - IFITM5 A6NNB3 VAR_071889 p.Ser40Leu LP/P rs786201032 Osteogenesis imperfecta 5 (OI5) [MIM:610967] IFNA1 P01562 VAR_013000 p.Ala137Val LB/B rs2230050 - IFNA1 P01562 VAR_024508 p.Val10Ala LB/B rs1758567 - IFNA1 P01562 VAR_025173 p.Ala163Gly LB/B rs28383794 - IFNA10 P01566 VAR_029227 p.Gly42Ala LB/B rs2230853 - IFNA17 P01571 VAR_013020 p.Ile184Arg LB/B rs9298814 - IFNA2 P01563 VAR_004012 p.Arg46Lys LB/B rs1061959 - IFNA2 P01563 VAR_013001 p.His57Arg LB/B rs73420190 - IFNA2 P01563 VAR_036329 p.Ser177Leu US - A breast cancer sample IFNA2 P01563 VAR_055972 p.Ala6Asp LB/B rs35971916 - IFNA21 P01568 VAR_049638 p.Lys179Glu LB/B rs3750478 - IFNA21 P01568 VAR_055325 p.Leu119Met LB/B rs1053885 - IFNA4 P05014 VAR_013002 p.Ala74Thr LB/B rs1062571 - IFNA4 P05014 VAR_013003 p.Glu137Val LB/B rs3750480 - IFNA4 P05014 VAR_034010 p.His49Pro LB/B rs201964250 - IFNA8 P32881 VAR_021975 p.Glu137Lys LB/B rs3739630 - IFNAR1 P17181 VAR_002717 p.Val168Leu LB/B rs2257167 - IFNAR1 P17181 VAR_020502 p.Val307Ile LB/B rs17875833 - IFNAR1 P17181 VAR_020503 p.Thr359Met LB/B rs17875834 - IFNAR1 P17181 VAR_084085 p.Ala24Val LB/B rs779701967 - IFNAR1 P17181 VAR_084086 p.Gly57Arg LB/B rs201532160 - IFNAR1 P17181 VAR_084087 p.Trp73Cys LB/B rs181939581 - IFNAR1 P17181 VAR_084088 p.Gln80His LB/B rs1333470928 - IFNAR1 P17181 VAR_084089 p.Thr83Ala US - - IFNAR1 P17181 VAR_084090 p.Asn88Ser LB/B rs577823502 - IFNAR1 P17181 VAR_084091 p.Ile169Met LB/B rs747690835 - IFNAR1 P17181 VAR_084092 p.Ile183Val LB/B rs770624214 - IFNAR1 P17181 VAR_084093 p.Arg306Cys LB/B rs201281365 - IFNAR1 P17181 VAR_084095 p.Glu386Leu US - - IFNAR1 P17181 VAR_084096 p.Ser422Arg LB/B rs746291558 - IFNAR1 P17181 VAR_084097 p.Ala424Thr LB/B rs541858922 - IFNAR1 P17181 VAR_084098 p.Glu515Lys LB/B rs778182995 - IFNAR2 P48551 VAR_020521 p.Phe8Ser LB/B rs2229207 - IFNAR2 P48551 VAR_020522 p.Phe10Val LB/B rs1051393 - IFNAR2 P48551 VAR_020523 p.Ile196Val LB/B rs17860223 - IFNAR2 P48551 VAR_084099 p.Glu37Gln LB/B rs201003373 - IFNAR2 P48551 VAR_084100 p.Met73Val LB/B rs142850110 - IFNAR2 P48551 VAR_084101 p.Glu138Val US - - IFNAR2 P48551 VAR_084102 p.Ser215Gly LB/B rs747605798 - IFNAR2 P48551 VAR_084103 p.His283Arg LB/B rs763508005 - IFNAR2 P48551 VAR_084104 p.Pro295Leu LB/B rs759744926 - IFNAR2 P48551 VAR_084105 p.Tyr318Cys LB/B rs756571542 - IFNAR2 P48551 VAR_084106 p.Ser324Asn LB/B rs201411274 - IFNAR2 P48551 VAR_084107 p.Pro346Ser LB/B rs148519830 - IFNAR2 P48551 VAR_084108 p.Pro362Ser LB/B rs1441207963 - IFNAR2 P48551 VAR_084109 p.Pro385Leu LB/B rs1231284605 - IFNAR2 P48551 VAR_084110 p.Ser450Leu LB/B rs866733383 - IFNB1 P01574 VAR_004016 p.Cys162Tyr US - - IFNB1 P01574 VAR_036330 p.Trp164Cys US - A breast cancer sample IFNE Q86WN2 VAR_049639 p.Gln46His LB/B rs1125488 - IFNG P01579 VAR_004017 p.Lys29Gln LB/B - - IFNG P01579 VAR_004018 p.Arg160Gln LB/B rs201359065 - IFNGR1 P15260 VAR_017577 p.Cys77Tyr LP/P rs104893974 Immunodeficiency 27A (IMD27A) [MIM:209950] IFNGR1 P15260 VAR_017578 p.Ile87Thr LP/P rs104893973 Immunodeficiency 27A (IMD27A) [MIM:209950] IFNGR1 P15260 VAR_019281 p.Val61Ile LB/B rs17175322 - IFNGR1 P15260 VAR_019282 p.His335Pro LB/B rs17175350 - IFNGR1 P15260 VAR_019283 p.Leu467Pro LB/B rs1887415 - IFNGR1 P15260 VAR_080058 p.Val14Met LB/B rs11575936 - IFNGR1 P15260 VAR_080059 p.Ile37Thr LP/P rs945137618 Immunodeficiency 27A (IMD27A) [MIM:209950] IFNGR1 P15260 VAR_080060 p.Val61Glu LP/P rs121912715 Immunodeficiency 27A (IMD27A) [MIM:209950] IFNGR1 P15260 VAR_080062 p.Val63Gly LP/P - Immunodeficiency 27A (IMD27A) [MIM:209950] IFNGR1 P15260 VAR_080063 p.Tyr66Cys LP/P - Immunodeficiency 27A (IMD27A) [MIM:209950] IFNGR1 P15260 VAR_080064 p.Cys77Phe LP/P - Immunodeficiency 27A (IMD27A) [MIM:209950] IFNGR1 P15260 VAR_080065 p.Cys85Tyr LP/P - Immunodeficiency 27A (IMD27A) [MIM:209950] IFNGR1 P15260 VAR_080067 p.Ser149Leu LB/B rs387906572 - IFNGR1 P15260 VAR_080068 p.Gly180Arg LB/B rs137854904 - IFNGR1 P15260 VAR_080069 p.Glu197Lys LB/B rs55666220 - IFNGR1 P15260 VAR_080071 p.Gly219Arg LP/P rs1311661488 Immunodeficiency 27A (IMD27A) [MIM:209950] IFNGR1 P15260 VAR_080074 p.Ile352Met LB/B rs199641966 - IFNGR1 P15260 VAR_080075 p.Tyr397Cys LB/B rs374787981 - IFNGR1 P15260 VAR_080076 p.Ser485Phe LP/P rs752113778 Immunodeficiency 27A (IMD27A) [MIM:209950] IFNGR2 P38484 VAR_002718 p.Gln64Arg LB/B rs9808753 - IFNGR2 P38484 VAR_020003 p.Thr58Arg LB/B rs4986958 - IFNGR2 P38484 VAR_021383 p.Glu147Lys LB/B rs17878639 - IFNGR2 P38484 VAR_021384 p.Lys182Glu LB/B rs17878711 - IFNGR2 P38484 VAR_023281 p.Thr168Asn LP/P rs74315444 Immunodeficiency 28 (IMD28) [MIM:614889] IFNGR2 P38484 VAR_075305 p.Arg114Cys LP/P rs1243506079 Immunodeficiency 28 (IMD28) [MIM:614889] IFNGR2 P38484 VAR_075306 p.Ser124Phe LP/P - Immunodeficiency 28 (IMD28) [MIM:614889] IFNGR2 P38484 VAR_075307 p.Gly141Arg LP/P rs1196094724 Immunodeficiency 28 (IMD28) [MIM:614889] IFNGR2 P38484 VAR_075308 p.Gly227Arg LP/P - Immunodeficiency 28 (IMD28) [MIM:614889] IFNK Q9P0W0 VAR_021303 p.Lys133Glu LB/B rs700785 - IFNK Q9P0W0 VAR_032710 p.Ile97Asn LB/B rs34933275 - IFNL1 Q8IU54 VAR_024506 p.Asn188Asp LB/B rs30461 - IFNL2 Q8IZJ0 VAR_053384 p.Thr10Met LB/B rs554971 - IFNL2 Q8IZJ0 VAR_053385 p.Thr112Ala LB/B rs8103362 - IFNL3 Q8IZI9 VAR_063419 p.Arg28His LB/B rs629976 - IFNL3 Q8IZI9 VAR_063420 p.Lys70Arg LB/B rs8103142 - IFNW1 P05000 VAR_020028 p.Arg95Ser LB/B rs2230055 - IFRD1 O00458 VAR_064723 p.Gln39Lys US - - IFRD2 Q12894 VAR_029302 p.Arg438Gln LB/B rs2229648 - IFT122 Q9HBG6 VAR_063584 p.Trp7Cys LP/P rs267607193 Cranioectodermal dysplasia 1 (CED1) [MIM:218330] IFT122 Q9HBG6 VAR_063585 p.Ser322Phe LP/P rs267607192 Cranioectodermal dysplasia 1 (CED1) [MIM:218330] IFT122 Q9HBG6 VAR_063586 p.Val502Gly LP/P rs267607191 Cranioectodermal dysplasia 1 (CED1) [MIM:218330] IFT122 Q9HBG6 VAR_081601 p.Val391Leu US rs777418707 Cranioectodermal dysplasia 1 (CED1) [MIM:218330] IFT122 Q9HBG6 VAR_081602 p.Gly495Arg LP/P rs397515568 Cranioectodermal dysplasia 1 (CED1) [MIM:218330] IFT122 Q9HBG6 VAR_081603 p.Phe570Cys US - Cranioectodermal dysplasia 1 (CED1) [MIM:218330] IFT122 Q9HBG6 VAR_081604 p.Gly572Val LP/P rs786205566 Cranioectodermal dysplasia 1 (CED1) [MIM:218330] IFT122 Q9HBG6 VAR_081605 p.Leu712Pro US rs1224050823 Cranioectodermal dysplasia 1 (CED1) [MIM:218330] IFT140 Q96RY7 VAR_053396 p.Asp165Ala LB/B rs35588860 - IFT140 Q96RY7 VAR_053397 p.Arg279Pro LB/B rs4786350 - IFT140 Q96RY7 VAR_053398 p.Arg280Gln LB/B rs35404373 - IFT140 Q96RY7 VAR_053399 p.Val398Ile LB/B rs34762152 - IFT140 Q96RY7 VAR_053400 p.Ala451Val LB/B rs8060532 - IFT140 Q96RY7 VAR_053401 p.Arg621Gln LB/B rs11648609 - IFT140 Q96RY7 VAR_053402 p.Pro670Ser LB/B rs34900355 - IFT140 Q96RY7 VAR_053403 p.Ala1070Val LB/B rs2235638 - IFT140 Q96RY7 VAR_062098 p.Ser561Asn LB/B rs8050974 - IFT140 Q96RY7 VAR_068523 p.Gly212Arg LP/P rs201188361 Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] IFT140 Q96RY7 VAR_068524 p.Ile233Met LP/P - Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] IFT140 Q96RY7 VAR_068525 p.Val292Met LP/P rs431905521 Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] IFT140 Q96RY7 VAR_068526 p.Tyr311Cys LP/P rs387907193 Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] IFT140 Q96RY7 VAR_068527 p.Gly522Glu LP/P rs199826737 Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] IFT140 Q96RY7 VAR_068528 p.Arg576Gln LP/P rs373111085 Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] IFT140 Q96RY7 VAR_068529 p.Glu664Lys US rs387907192 Retinitis pigmentosa 80 (RP80) [MIM:617781] IFT140 Q96RY7 VAR_068529 p.Glu664Lys US rs387907192 Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] IFT140 Q96RY7 VAR_070999 p.Arg110His LB/B rs371077545 - IFT140 Q96RY7 VAR_071000 p.Leu152Phe LP/P rs1403669200 Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] IFT140 Q96RY7 VAR_071001 p.Pro161Thr LB/B rs148462329 - IFT140 Q96RY7 VAR_071002 p.Glu243Gly LB/B rs539181813 - IFT140 Q96RY7 VAR_071003 p.Glu267Gly LP/P - Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] IFT140 Q96RY7 VAR_071004 p.Trp459Ser LB/B rs778311141 - IFT140 Q96RY7 VAR_071005 p.Leu514His LB/B rs150903791 - IFT140 Q96RY7 VAR_071006 p.Asp787Gly LB/B rs144938800 - IFT140 Q96RY7 VAR_071007 p.Pro1353Arg LB/B rs146666187 - IFT140 Q96RY7 VAR_071008 p.Cys1360Arg LP/P rs431905520 Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] IFT140 Q96RY7 VAR_078817 p.Arg280Trp LP/P rs8058674 Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] IFT140 Q96RY7 VAR_080667 p.Pro71Leu US rs772757427 Retinitis pigmentosa 80 (RP80) [MIM:617781] IFT140 Q96RY7 VAR_080668 p.Cys329Arg US rs1441549097 Retinitis pigmentosa 80 (RP80) [MIM:617781] IFT140 Q96RY7 VAR_080669 p.Cys333Tyr US rs773372123 Retinitis pigmentosa 80 (RP80) [MIM:617781] IFT140 Q96RY7 VAR_080670 p.Ala341Thr US rs200292484 Retinitis pigmentosa 80 (RP80) [MIM:617781] IFT140 Q96RY7 VAR_080671 p.Ala418Pro US rs770890983 Retinitis pigmentosa 80 (RP80) [MIM:617781] IFT140 Q96RY7 VAR_080672 p.Leu440Pro US rs1555491448 Retinitis pigmentosa 80 (RP80) [MIM:617781] IFT140 Q96RY7 VAR_080674 p.Thr484Met US rs758052634 Retinitis pigmentosa 80 (RP80) [MIM:617781] IFT140 Q96RY7 VAR_080675 p.Cys663Trp US rs781117803 Retinitis pigmentosa 80 (RP80) [MIM:617781] IFT140 Q96RY7 VAR_080677 p.Leu777Arg LB/B rs34535263 - IFT140 Q96RY7 VAR_080678 p.Glu790Lys US rs751323480 Retinitis pigmentosa 80 (RP80) [MIM:617781] IFT140 Q96RY7 VAR_080679 p.Arg871Cys US rs767213195 Retinitis pigmentosa 80 (RP80) [MIM:617781] IFT140 Q96RY7 VAR_080680 p.Ser939Pro US rs145549969 Retinitis pigmentosa 80 (RP80) [MIM:617781] IFT140 Q96RY7 VAR_080681 p.Ala974Val US rs745576178 Retinitis pigmentosa 80 (RP80) [MIM:617781] IFT140 Q96RY7 VAR_080682 p.Gly1276Arg US rs200065348 Retinitis pigmentosa 80 (RP80) [MIM:617781] IFT140 Q96RY7 VAR_080683 p.Leu1399Pro US rs559371453 Retinitis pigmentosa 80 (RP80) [MIM:617781] IFT172 Q9UG01 VAR_042581 p.Arg953His LB/B rs704793 - IFT172 Q9UG01 VAR_070956 p.Arg296Trp LP/P rs145541911 Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630] IFT172 Q9UG01 VAR_070957 p.Ile411Asn LP/P rs587777085 Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630] IFT172 Q9UG01 VAR_070959 p.Leu1536Pro LP/P rs587777080 Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630] IFT172 Q9UG01 VAR_070960 p.Arg1544Cys LP/P rs587777079 Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630] IFT172 Q9UG01 VAR_070961 p.Cys1727Arg LP/P rs149614625 Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630] IFT172 Q9UG01 VAR_073800 p.Leu257Pro LP/P rs786205857 Retinitis pigmentosa 71 (RP71) [MIM:616394] IFT172 Q9UG01 VAR_073801 p.His1567Gln LP/P rs786205855 Bardet-Biedl syndrome 20 (BBS20) [MIM:619471] IFT172 Q9UG01 VAR_073802 p.Asp1605Glu LP/P rs786205856 Retinitis pigmentosa 71 (RP71) [MIM:616394] IFT172 Q9UG01 VAR_086152 p.Leu493Arg US - Bardet-Biedl syndrome 20 (BBS20) [MIM:619471] IFT172 Q9UG01 VAR_086153 p.His719Tyr US rs144645349 Bardet-Biedl syndrome 20 (BBS20) [MIM:619471] IFT27 Q9BW83 VAR_071804 p.Cys100Tyr LP/P rs587777546 Bardet-Biedl syndrome 19 (BBS19) [MIM:615996] IFT43 Q96FT9 VAR_056839 p.Arg85His LB/B rs2302858 - IFT43 Q96FT9 VAR_080629 p.Glu34Lys LP/P rs140366557 Retinitis pigmentosa 81 (RP81) [MIM:617871] IFT43 Q96FT9 VAR_080630 p.Trp174Arg LP/P rs1555369050 Short-rib thoracic dysplasia 18 with polydactyly (SRTD18) [MIM:617866] IFT46 Q9NQC8 VAR_057533 p.Cys9Tyr LB/B rs11552421 - IFT52 Q9Y366 VAR_077805 p.Ala199Thr LP/P rs886037869 Short-rib thoracic dysplasia 16 with or without polydactyly (SRTD16) [MIM:617102] IFT56 A0AVF1 VAR_032568 p.Asp310Asn LB/B rs13225917 - IFT56 A0AVF1 VAR_086383 p.Asn263Ser LP/P - Biliary, renal, neurologic, and skeletal syndrome (BRENS) [MIM:619534] IFT56 A0AVF1 VAR_086384 p.Pro444Leu US - Biliary, renal, neurologic, and skeletal syndrome (BRENS) [MIM:619534] IFT70A Q86WT1 VAR_043123 p.Lys577Arg LB/B rs17854236 - IFT70A Q86WT1 VAR_054660 p.Val446Ile LB/B rs28630685 - IFT70B Q8N4P2 VAR_043124 p.Arg117His LB/B rs11694988 - IFT70B Q8N4P2 VAR_043125 p.Ile446Val LB/B rs2695315 - IFT74 Q96LB3 VAR_051062 p.Ile55Met LB/B rs10812505 - IFT74 Q96LB3 VAR_051063 p.Thr110Ala LB/B rs12004404 - IFT74 Q96LB3 VAR_051064 p.Phe224Leu LB/B rs17694549 - IFT74 Q96LB3 VAR_051065 p.Asn355Thr LB/B rs34628525 - IFT74 Q96LB3 VAR_051066 p.Thr597Ile LB/B rs3429 - IFT74 Q96LB3 VAR_061667 p.Lys85Arg LB/B rs11555693 - IFT74 Q96LB3 VAR_076977 p.Val579Met LB/B rs138591335 - IFT74 Q96LB3 VAR_086332 p.Gly86Ser LP/P - Spermatogenic failure 58 (SPGF58) [MIM:619585] IFT74 Q96LB3 VAR_086333 p.Gln179Glu LP/P rs150219690 Joubert syndrome 40 (JBTS40) [MIM:619582] IFT80 Q9P2H3 VAR_035006 p.His105Gln LP/P rs137853115 Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263] IFT80 Q9P2H3 VAR_035008 p.Thr586Ser LB/B rs6778728 - IFT80 Q9P2H3 VAR_035009 p.Ala701Pro LP/P rs137853116 Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263] IFT81 Q8WYA0 VAR_080485 p.Leu29Phe LP/P rs751222088 Short-rib thoracic dysplasia 19 with or without polydactyly (SRTD19) [MIM:617895] IFT88 Q13099 VAR_046464 p.Met374Ile LB/B rs2442455 - IFT88 Q13099 VAR_046465 p.Ser446Asn LB/B rs9509307 - IFT88 Q13099 VAR_046466 p.Ser662Gly LB/B rs9552254 - IGBP1 P78318 VAR_049570 p.Arg20Lys LB/B rs6625580 - IGDCC3 Q8IVU1 VAR_060356 p.Val751Leu LB/B rs12907128 - IGDCC4 Q8TDY8 VAR_049966 p.Ala52Pro LB/B rs34355056 - IGDCC4 Q8TDY8 VAR_049967 p.Asn301Ser LB/B rs12442757 - IGDCC4 Q8TDY8 VAR_049968 p.Thr1102Ala LB/B rs33918653 - IGDCC4 Q8TDY8 VAR_049969 p.Cys1125Tyr LB/B rs33918653 - IGDCC4 Q8TDY8 VAR_059391 p.Ser803Cys LB/B rs1469778 - IGF1 P05019 VAR_013945 p.Ala187Asp LB/B rs6213 - IGF1 P05019 VAR_056113 p.Ala115Thr LB/B rs17884626 - IGF1 P05019 VAR_075825 p.Arg98Trp US rs587779350 - IGF1R P08069 VAR_018855 p.Val388Met LB/B rs45445894 - IGF1R P08069 VAR_018856 p.Arg605His LB/B rs45553041 - IGF1R P08069 VAR_034891 p.Arg138Gln LP/P rs121912426 Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] IGF1R P08069 VAR_034892 p.Lys145Asn LP/P rs121912427 Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] IGF1R P08069 VAR_034893 p.Arg437His LB/B rs34516635 - IGF1R P08069 VAR_034894 p.Arg511Gln LB/B rs33958176 - IGF1R P08069 VAR_034895 p.Arg739Gln LP/P rs121912429 Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] IGF1R P08069 VAR_034896 p.His808Arg LB/B rs34061581 - IGF1R P08069 VAR_034897 p.Ala828Thr LB/B rs35224135 - IGF1R P08069 VAR_041424 p.Val105Leu US - - IGF1R P08069 VAR_041425 p.Arg595His LB/B rs56248469 - IGF1R P08069 VAR_041426 p.Asn857Ser LB/B rs45611935 - IGF1R P08069 VAR_041427 p.Ala1338Thr LB/B rs34102392 - IGF1R P08069 VAR_041428 p.Ala1347Val US - A lung squamous cell carcinoma sample IGF1R P08069 VAR_076247 p.Asn359Tyr LP/P - Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] IGF1R P08069 VAR_076248 p.Tyr865Cys LP/P - Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] IGF1R P08069 VAR_076249 p.Arg1256Ser LP/P - Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] IGF1R P08069 VAR_076250 p.Arg1337Cys US rs141802822 Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] IGF2 P01344 VAR_011959 p.Lys120Asn LB/B rs14367 - IGF2 P01344 VAR_011960 p.Pro173Gln LB/B rs1050342 - IGF2 P01344 VAR_011961 p.Lys180Asn LB/B rs12993 - IGF2-AS Q6U949 VAR_024844 p.Ser106Ile LB/B rs17883406 - IGF2-AS Q6U949 VAR_024845 p.Pro112Thr LB/B rs17883142 - IGF2-AS Q6U949 VAR_024846 p.Phe125Val LB/B rs1003483 - IGF2-AS Q6U949 VAR_024847 p.Thr150Ala LB/B rs1003484 - IGF2R P11717 VAR_014722 p.Asn2020Ser LB/B rs1805075 - IGF2R P11717 VAR_020470 p.Pro203Leu LB/B rs8191746 - IGF2R P11717 VAR_020471 p.Leu252Val LB/B rs8191754 - IGF2R P11717 VAR_020472 p.Arg529Gln LB/B rs6413489 - IGF2R P11717 VAR_020473 p.Gly604Ser LB/B rs8191797 - IGF2R P11717 VAR_020474 p.Ala724Thr LB/B rs6413491 - IGF2R P11717 VAR_020475 p.Gly856Ser LB/B rs8191819 - IGF2R P11717 VAR_020476 p.Thr1107Met LB/B rs8191842 - IGF2R P11717 VAR_020477 p.Thr1184Ser LB/B rs8191844 - IGF2R P11717 VAR_021304 p.Arg91His LB/B rs8191704 - IGF2R P11717 VAR_021305 p.Gly231Asp LB/B rs8191753 - IGF2R P11717 VAR_021306 p.Asp273Gly LB/B rs8191758 - IGF2R P11717 VAR_021307 p.Lys512Gln LB/B rs8191776 - IGF2R P11717 VAR_021308 p.Leu817Val LB/B rs8191808 - IGF2R P11717 VAR_021309 p.Val1124Ile LB/B rs8191843 - IGF2R P11717 VAR_021310 p.Gly1315Glu LB/B rs8191859 - IGF2R P11717 VAR_021311 p.Arg1335His LB/B rs8191860 - IGF2R P11717 VAR_021312 p.Arg1619Gly LB/B rs629849 - IGF2R P11717 VAR_021313 p.Arg1832His LB/B rs8191904 - IGF2R P11717 VAR_021314 p.Gly1860Asp LB/B rs8191905 - IGF2R P11717 VAR_021315 p.Ile1908Met LB/B rs8191908 - IGF2R P11717 VAR_021316 p.Ala2459Val LB/B rs8191955 - IGF2R P11717 VAR_050428 p.Glu1254Ala LB/B rs2230043 - IGF2R P11717 VAR_050429 p.Thr1395Ser LB/B rs2230048 - IGF2R P11717 VAR_050430 p.Gln1696Arg LB/B rs11552587 - IGFALS P35858 VAR_022034 p.Pro498Ser LB/B rs9282730 - IGFALS P35858 VAR_022035 p.Arg548Trp LB/B rs9282731 - IGFALS P35858 VAR_050658 p.Leu97Phe LB/B rs35947557 - IGFALS P35858 VAR_050659 p.Pro307Leu LB/B rs34297640 - IGFALS P35858 VAR_072475 p.Cys60Ser LP/P - Acid-labile subunit deficiency (ACLSD) [MIM:615961] IGFALS P35858 VAR_072476 p.Pro73Leu LP/P rs766004600 Acid-labile subunit deficiency (ACLSD) [MIM:615961] IGFALS P35858 VAR_072477 p.Leu134Gln LP/P - Acid-labile subunit deficiency (ACLSD) [MIM:615961] IGFALS P35858 VAR_072479 p.Leu244Phe LP/P rs774634302 Acid-labile subunit deficiency (ACLSD) [MIM:615961] IGFALS P35858 VAR_072480 p.Asn276Ser LP/P rs551618643 Acid-labile subunit deficiency (ACLSD) [MIM:615961] IGFALS P35858 VAR_072482 p.Asp440Asn LP/P rs776840046 Acid-labile subunit deficiency (ACLSD) [MIM:615961] IGFALS P35858 VAR_072483 p.Cys540Arg LP/P rs121909247 Acid-labile subunit deficiency (ACLSD) [MIM:615961] IGFALS P35858 VAR_074071 p.Leu127Pro LP/P - Acid-labile subunit deficiency (ACLSD) [MIM:615961] IGFBP1 P08833 VAR_003821 p.Ile253Met LB/B rs4619 - IGFBP1 P08833 VAR_011905 p.Val183Ile LB/B rs1065782 - IGFBP1 P08833 VAR_049564 p.His114Asp LB/B rs41258845 - IGFBP2 P18065 VAR_018871 p.Ala137Asp LB/B rs9341096 - IGFBP3 P17936 VAR_021974 p.His158Pro LB/B rs9282734 - IGFBP3 P17936 VAR_025262 p.Ala32Gly LB/B rs2854746 - IGFBP3 P17936 VAR_025263 p.Ala56Thr LB/B rs34257987 - IGFBP3 P17936 VAR_025264 p.Gly234Ser LB/B rs35712717 - IGFBP3 P17936 VAR_036279 p.Thr7Met US - A colorectal cancer sample IGFBP3 P17936 VAR_036280 p.Arg252Cys US rs538312081 A colorectal cancer sample IGFBP4 P22692 VAR_011906 p.Val42Gly LB/B rs599199 - IGFBP5 P24593 VAR_019284 p.Arg138Trp LB/B rs11575194 - IGFBP6 P24592 VAR_011907 p.Thr236Pro LB/B rs1053134 - IGFBP6 P24592 VAR_018932 p.Arg128Gly LB/B rs9658616 - IGFBP6 P24592 VAR_018933 p.Arg217Gln LB/B rs6413498 - IGFBP6 P24592 VAR_049565 p.Arg134Leu LB/B rs34995393 - IGFBP7 Q16270 VAR_018959 p.Leu11Phe LB/B rs11573021 - IGFBP7 Q16270 VAR_063638 p.Arg78Gly LB/B rs11555284 - IGFBP7 Q16270 VAR_063639 p.Lys95Arg LB/B rs1133243 - IGFL3 Q6UXB1 VAR_034012 p.Thr66Ser LB/B rs10406448 - IGFL4 Q6B9Z1 VAR_049571 p.Leu25Pro LB/B rs10412490 - IGFL4 Q6B9Z1 VAR_049572 p.Arg60Gln LB/B rs17271272 - IGFLR1 Q9H665 VAR_032775 p.Trp189Arg LB/B rs34562867 - IGFN1 Q86VF2 VAR_046035 p.Thr1056Met LB/B rs6690992 - IGFN1 Q86VF2 VAR_046036 p.His1095Tyr LB/B rs3738270 - IGHA1 P01876 VAR_014602 p.Glu176Asp LB/B rs1407 - IGHA2 P01877 VAR_003879 p.Ser93Pro LB/B - - IGHA2 P01877 VAR_003880 p.Arg102Pro LB/B - - IGHA2 P01877 VAR_003881 p.Tyr279Phe LB/B - - IGHA2 P01877 VAR_003882 p.Glu296Asp LB/B - - IGHE P01854 VAR_003885 p.Trp359Leu LB/B - - IGHE P01854 VAR_044229 p.Trp43Cys LB/B - - IGHG1 P01857 VAR_003886 p.Lys97Arg LB/B - - IGHG1 P01857 VAR_003887 p.Asp239Glu LB/B - - IGHG1 P01857 VAR_003888 p.Leu241Met LB/B - - IGHG2 P01859 VAR_003889 p.Ser60Ala LB/B - - IGHG2 P01859 VAR_077892 p.Ser257Ala LB/B - - IGHG3 P01860 VAR_003891 p.Pro221Leu US - - IGHG3 P01860 VAR_003892 p.Tyr226Phe US - - IGHG3 P01860 VAR_003893 p.Thr269Ala US - - IGHG3 P01860 VAR_003894 p.Ser314Asn US - - IGHG3 P01860 VAR_003896 p.Phe366Tyr US - - IGHG3 P01860 VAR_068697 p.Glu213Gln US - - IGHG3 P01860 VAR_068698 p.Glu224Gln US - - IGHG3 P01860 VAR_068699 p.Asp242Asn US - - IGHG3 P01860 VAR_068700 p.Asn245Asp US - - IGHM P01871 VAR_003903 p.Gly191Ser LB/B - - IGHM P01871 VAR_003904 p.Val215Gly LB/B rs12365 - IGHM P01871 VAR_077893 p.Phe40Leu LB/B - - IGHM P01871 VAR_077895 p.Glu418Asp LB/B - - IGHMBP2 P38935 VAR_020147 p.Thr671Ala LB/B rs622082 - IGHMBP2 P38935 VAR_021899 p.Arg694Trp LB/B rs2236654 - IGHMBP2 P38935 VAR_021900 p.Glu928Lys LB/B rs2275996 - IGHMBP2 P38935 VAR_022321 p.Leu192Pro LP/P rs879253996 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022322 p.His213Arg LP/P rs137852666 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022323 p.Thr221Ala LP/P rs1594422709 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022324 p.Cys241Arg LP/P rs1594427373 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022325 p.Glu334Lys LP/P rs1594431740 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022326 p.Leu361Pro LP/P rs201060167 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022327 p.Leu364Pro LP/P rs1594445394 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022328 p.Glu382Lys LP/P rs776730737 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022329 p.Leu426Pro LP/P rs1555247218 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022330 p.Glu514Lys LP/P rs137852665 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022331 p.Asp565Asn LP/P rs770111639 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022333 p.Leu577Pro LP/P rs1483165002 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022334 p.Val580Ile LP/P rs137852667 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022335 p.Asn583Ile LP/P rs1594454388 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022336 p.Gly586Cys LP/P - Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022337 p.Arg603His LP/P rs151079750 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022338 p.Arg637Cys LP/P rs201563456 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_022339 p.Thr879Lys LB/B rs17612126 - IGHMBP2 P38935 VAR_022340 p.Asp974Glu US rs147674615 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_024242 p.Leu201Ser LB/B rs560096 - IGHMBP2 P38935 VAR_024243 p.Ile275Val LB/B rs10896380 - IGHMBP2 P38935 VAR_055225 p.Ala75Thr LB/B rs2228206 - IGHMBP2 P38935 VAR_055226 p.Pro557Ala LB/B rs7122089 - IGHMBP2 P38935 VAR_058497 p.Leu17Pro LP/P rs1594412120 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_058498 p.Gln196Arg LP/P rs1594422506 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_058499 p.Pro216Leu LP/P rs1594422676 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_058500 p.Leu251Pro LP/P rs1594427489 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_058501 p.Trp386Arg LP/P rs759641927 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_058502 p.His445Pro LP/P rs571142182 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_058503 p.Leu472Pro LP/P rs1594451536 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_058504 p.Thr493Ile LP/P rs780594709 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_058505 p.Arg581Ser LP/P rs1594454382 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_058506 p.Arg603Cys LP/P rs1465803265 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_072694 p.Phe202Val LP/P rs724159958 Charcot-Marie-Tooth disease, axonal, 2S (CMT2S) [MIM:616155] IGHMBP2 P38935 VAR_072695 p.Phe369Leu LP/P rs137852670 Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320] IGHMBP2 P38935 VAR_072696 p.Val373Gly LP/P rs724159959 Charcot-Marie-Tooth disease, axonal, 2S (CMT2S) [MIM:616155] IGHMBP2 P38935 VAR_072697 p.Ala528Thr LP/P rs724159960 Charcot-Marie-Tooth disease, axonal, 2S (CMT2S) [MIM:616155] IGHV1-2 P23083 VAR_076173 p.Trp69Arg LB/B - - IGHV1-2 P23083 VAR_076174 p.Trp86Arg LB/B - - IGHV1-2 P23083 VAR_076175 p.Met89Ser LB/B - - IGHV1-2 P23083 VAR_076176 p.Ala111Val LB/B - - IGHV1-46 P01743 VAR_076712 p.Thr49Asn LB/B - - IGHV3-20 A0A0C4DH32 VAR_077934 p.Cys41Phe LB/B - - IGHV3-23 P01764 VAR_073326 p.Val24Leu LB/B - - IGHV3-23 P01764 VAR_073327 p.Ala80Gly LB/B - - IGKC P01834 VAR_003897 p.Val84Leu LB/B - - IGKC P01834 VAR_066403 p.Trp41Arg LP/P - Immunoglobulin kappa light chain deficiency (IGKCD) [MIM:614102] IGKV1-5 P01602 VAR_073349 p.Lys72Asp LB/B - - IGKV1D-16 P01601 VAR_073376 p.Ser48Arg LB/B - - IGLC3 P0DOY3 VAR_077897 p.Lys83Arg LB/B - - IGLC7 A0M8Q6 VAR_077896 p.Asn34Tyr LB/B - - IGLL1 P15814 VAR_034869 p.Pro142Leu LP/P rs1064422 Agammaglobulinemia 2, autosomal recessive (AGM2) [MIM:613500] IGLL1 P15814 VAR_059392 p.Arg189His LB/B rs8138122 - IGSF1 Q8N6C5 VAR_054960 p.Asn381His LB/B rs6637826 - IGSF1 Q8N6C5 VAR_069269 p.Ser765Asn LP/P - Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888] IGSF1 Q8N6C5 VAR_069270 p.Ser858Phe LP/P rs397514622 Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888] IGSF1 Q8N6C5 VAR_069271 p.Cys942Arg LP/P - Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888] IGSF1 Q8N6C5 VAR_076256 p.Glu774Gly LB/B - - IGSF10 Q6WRI0 VAR_032179 p.Thr124Ile LB/B rs35953658 - IGSF10 Q6WRI0 VAR_032180 p.Tyr150Asp LB/B rs7619322 - IGSF10 Q6WRI0 VAR_032181 p.Pro571Ser LB/B rs17204557 - IGSF10 Q6WRI0 VAR_032182 p.Ser1199Ala LB/B rs16863403 - IGSF10 Q6WRI0 VAR_032183 p.Thr1370Ile LB/B rs34933248 - IGSF10 Q6WRI0 VAR_032184 p.Tyr1875His LB/B rs12487205 - IGSF10 Q6WRI0 VAR_032185 p.Arg2476Trp LB/B rs3732775 - IGSF10 Q6WRI0 VAR_032186 p.His2579Tyr LB/B rs7624011 - IGSF10 Q6WRI0 VAR_061313 p.Asp795Asn LB/B rs58583961 - IGSF10 Q6WRI0 VAR_078550 p.Arg156Leu LB/B rs138756085 - IGSF10 Q6WRI0 VAR_078551 p.Glu161Lys LB/B rs114161831 - IGSF10 Q6WRI0 VAR_078552 p.Glu2264Gly US rs1204847665 - IGSF10 Q6WRI0 VAR_078553 p.Asp2614Asn US rs112889898 - IGSF11 Q5DX21 VAR_038516 p.Pro39Thr LB/B rs2903250 - IGSF11 Q5DX21 VAR_038517 p.Glu333Asp LB/B rs36052974 - IGSF11 Q5DX21 VAR_056048 p.Ser388Asn LB/B rs34908332 - IGSF21 Q96ID5 VAR_035518 p.Thr467Met US rs766575681 A colorectal cancer sample IGSF21 Q96ID5 VAR_056049 p.Arg245His LB/B rs2355877 - IGSF21 Q96ID5 VAR_056050 p.Thr379Met LB/B rs12076815 - IGSF22 Q8N9C0 VAR_032000 p.Ala94Pro LB/B rs10832975 - IGSF22 Q8N9C0 VAR_032001 p.Leu130Arg LB/B rs3740710 - IGSF22 Q8N9C0 VAR_032002 p.Val414Ile LB/B rs10766494 - IGSF22 Q8N9C0 VAR_032003 p.Arg472Gln LB/B rs4424652 - IGSF22 Q8N9C0 VAR_032004 p.Ser503Ile LB/B rs3887899 - IGSF22 Q8N9C0 VAR_032005 p.Met559Val LB/B rs7125943 - IGSF22 Q8N9C0 VAR_032006 p.Leu677Phe LB/B rs11024769 - IGSF22 Q8N9C0 VAR_064722 p.Arg7Trp LB/B rs117464001 - IGSF3 O75054 VAR_039134 p.Ser51Pro LB/B rs3965246 - IGSF3 O75054 VAR_039135 p.Asp1020Glu LB/B rs647711 - IGSF3 O75054 VAR_039136 p.Gln1073Arg LB/B rs6703791 - IGSF5 Q9NSI5 VAR_038381 p.Arg49Thr LB/B rs2205204 - IGSF5 Q9NSI5 VAR_038382 p.Asn156Lys LB/B rs11908882 - IGSF5 Q9NSI5 VAR_038383 p.Arg170Trp LB/B rs8129968 - IGSF5 Q9NSI5 VAR_038384 p.Asp350Glu LB/B rs2837225 - IGSF6 O95976 VAR_039137 p.Gln74Arg LB/B rs17851574 - IGSF6 O95976 VAR_039138 p.Phe173Ser LB/B rs2290612 - IGSF6 O95976 VAR_039139 p.Asn186Lys LB/B rs751849987 - IGSF9 Q9P2J2 VAR_035256 p.Gly34Glu LB/B rs3747617 - IGSF9 Q9P2J2 VAR_035257 p.Arg474Pro LB/B rs16842846 - IGSF9 Q9P2J2 VAR_035258 p.Pro914Leu LB/B rs35574000 - IGSF9 Q9P2J2 VAR_035259 p.Ser1026Thr LB/B rs34749866 - IGSF9 Q9P2J2 VAR_035260 p.Pro1117Thr LB/B rs1319080 - IGSF9B Q9UPX0 VAR_076999 p.Thr178Met LB/B rs77432041 - IGSF9B Q9UPX0 VAR_077000 p.Glu268Lys LB/B rs369063193 - IHH Q14623 VAR_015981 p.Pro46Leu LP/P rs121917856 Acrocapitofemoral dysplasia (ACFD) [MIM:607778] IHH Q14623 VAR_015982 p.Glu95Lys LP/P rs121917852 Brachydactyly A1 (BDA1) [MIM:112500] IHH Q14623 VAR_015983 p.Asp100Glu LP/P rs121917854 Brachydactyly A1 (BDA1) [MIM:112500] IHH Q14623 VAR_015984 p.Asp100Asn LP/P rs121917855 Brachydactyly A1 (BDA1) [MIM:112500] IHH Q14623 VAR_015985 p.Glu131Lys LP/P rs121917853 Brachydactyly A1 (BDA1) [MIM:112500] IHH Q14623 VAR_015986 p.Val190Ala LP/P rs121917857 Acrocapitofemoral dysplasia (ACFD) [MIM:607778] IHO1 Q8IYA8 VAR_035002 p.Asp440Glu LB/B rs13068038 - IKBIP Q70UQ0 VAR_051067 p.Gly265Ser LB/B rs1048906 - IKBKB O14920 VAR_021124 p.Arg554Trp LB/B rs17875749 - IKBKB O14920 VAR_035626 p.Ala360Ser US - Breast cancer samples IKBKB O14920 VAR_040567 p.Gln369Arg LB/B rs56411242 - IKBKB O14920 VAR_040568 p.Arg526Gln LB/B rs2272736 - IKBKB O14920 VAR_040569 p.Ala710Thr LB/B rs34309584 - IKBKB O14920 VAR_040570 p.Phe734Leu LB/B rs56301637 - IKBKB O14920 VAR_051628 p.Ala736Thr LB/B rs17611716 - IKBKB O14920 VAR_081275 p.Val203Ile LP/P rs1563340753 Immunodeficiency 15A (IMD15A) [MIM:618204] IKBKE Q14164 VAR_019989 p.Pro713Leu LB/B rs3748022 - IKBKE Q14164 VAR_038816 p.Glu128Lys LB/B rs41296028 - IKBKE Q14164 VAR_038817 p.Ala371Thr LB/B rs17021877 - IKBKE Q14164 VAR_038818 p.Glu515Asp LB/B rs41299015 - IKBKE Q14164 VAR_038819 p.Ile543Met LB/B rs41299037 - IKBKE Q14164 VAR_038820 p.Ala602Val LB/B rs12059562 - IKBKE Q14164 VAR_040571 p.Thr483Met LB/B rs52817862 - IKBKE Q14164 VAR_040572 p.Gly660Glu LB/B rs55822317 - IKBKE-AS1 Q96MC9 VAR_027074 p.Gly213Ala LB/B rs2336940 - IKBKE-AS1 Q96MC9 VAR_027075 p.Pro233Ser LB/B rs11118256 - IKBKE-AS1 Q96MC9 VAR_027076 p.Thr259Met LB/B rs17024805 - IKBKG Q9Y6K9 VAR_009182 p.Met407Val LP/P rs137853322 Incontinentia pigmenti (IP) [MIM:308300] IKBKG Q9Y6K9 VAR_011320 p.Arg175Pro LP/P rs179363868 Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291] IKBKG Q9Y6K9 VAR_011321 p.Leu227Pro LP/P rs179363869 Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291] IKBKG Q9Y6K9 VAR_011322 p.Ala288Gly LP/P rs137853330 Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291] IKBKG Q9Y6K9 VAR_011323 p.Asp311Asn LP/P rs179363867 Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291] IKBKG Q9Y6K9 VAR_011324 p.Asp406Val LP/P rs137853327 Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291] IKBKG Q9Y6K9 VAR_011325 p.Cys417Phe LP/P rs137853326 Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291] IKBKG Q9Y6K9 VAR_011326 p.Cys417Arg LP/P rs137853325 Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291] IKBKG Q9Y6K9 VAR_026491 p.Glu57Lys LP/P rs148695964 Incontinentia pigmenti (IP) [MIM:308300] IKBKG Q9Y6K9 VAR_026493 p.Asp113Asn LB/B rs179363896 - IKBKG Q9Y6K9 VAR_026494 p.Arg123Trp LP/P rs179363895 Incontinentia pigmenti (IP) [MIM:308300] IKBKG Q9Y6K9 VAR_026495 p.Leu153Arg LP/P rs137853328 Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291] IKBKG Q9Y6K9 VAR_026496 p.Cys417Tyr LP/P rs137853326 Immunodeficiency 33 (IMD33) [MIM:300636] IKBKG Q9Y6K9 VAR_031958 p.Arg173Gly LP/P rs179363866 Immunodeficiency 33 (IMD33) [MIM:300636] IKBKG Q9Y6K9 VAR_031959 p.Glu315Ala LP/P rs137853331 Immunodeficiency 33 (IMD33) [MIM:300636] IKBKG Q9Y6K9 VAR_031960 p.Arg319Gln LP/P rs137853332 Immunodeficiency 33 (IMD33) [MIM:300636] IKBKG Q9Y6K9 VAR_042666 p.Ala323Pro LP/P rs179363865 Incontinentia pigmenti (IP) [MIM:308300] IKBKG Q9Y6K9 VAR_072603 p.Leu170Pro LP/P - Incontinentia pigmenti (IP) [MIM:308300] IKBKG Q9Y6K9 VAR_072604 p.Arg173Gln LP/P rs1057520292 Incontinentia pigmenti (IP) [MIM:308300] IKBKG Q9Y6K9 VAR_072605 p.Gln183His LP/P rs1198984417 Incontinentia pigmenti (IP) [MIM:308300] IKBKG Q9Y6K9 VAR_072606 p.Ala314Pro LP/P - Incontinentia pigmenti (IP) [MIM:308300] IKBKG Q9Y6K9 VAR_072607 p.Leu322Pro LP/P - Incontinentia pigmenti (IP) [MIM:308300] IKBKG Q9Y6K9 VAR_072608 p.His413Tyr LP/P - Incontinentia pigmenti (IP) [MIM:308300] IKZF1 Q13422 VAR_076401 p.Arg162Leu LP/P rs770551610 Immunodeficiency, common variable, 13 (CVID13) [MIM:616873] IKZF1 Q13422 VAR_076402 p.Arg162Gln LP/P rs770551610 Immunodeficiency, common variable, 13 (CVID13) [MIM:616873] IKZF1 Q13422 VAR_076403 p.His167Arg LP/P rs869312884 Immunodeficiency, common variable, 13 (CVID13) [MIM:616873] IKZF1 Q13422 VAR_076404 p.Arg184Gln LP/P rs869312885 Immunodeficiency, common variable, 13 (CVID13) [MIM:616873] IKZF1 Q13422 VAR_076405 p.Tyr210Cys LP/P rs869312883 Immunodeficiency, common variable, 13 (CVID13) [MIM:616873] IKZF2 Q9UKS7 VAR_028227 p.Asn93Ser LB/B rs16849611 - IKZF3 Q9UKT9 VAR_064724 p.Glu277Gln US - - IKZF3 Q9UKT9 VAR_086041 p.Gly159Arg LP/P - Immunodeficiency 84 (IMD84) [MIM:619437] IKZF5 Q9H5V7 VAR_085558 p.Gln16His US - Thrombocytopenia 7 (THC7) [MIM:619130] IKZF5 Q9H5V7 VAR_085559 p.Ser119Pro US - Thrombocytopenia 7 (THC7) [MIM:619130] IL10 P22301 VAR_015883 p.Gly15Arg LB/B rs145922845 - IL10RA Q13651 VAR_016294 p.Leu61Val LB/B rs4252250 - IL10RA Q13651 VAR_016295 p.Val113Ile LB/B rs4252303 - IL10RA Q13651 VAR_016296 p.Ser159Gly LB/B rs3135932 - IL10RA Q13651 VAR_016297 p.Arg212Gln LB/B rs4252273 - IL10RA Q13651 VAR_016298 p.Arg351Gly LB/B rs2229113 - IL10RA Q13651 VAR_016299 p.Ser420Leu LB/B rs2229114 - IL10RA Q13651 VAR_020004 p.Ile224Val LB/B rs2228055 - IL10RA Q13651 VAR_049175 p.Pro353Ser LB/B rs35235073 - IL10RA Q13651 VAR_063542 p.Thr84Ile LP/P rs137853580 Inflammatory bowel disease 28, autosomal recessive (IBD28) [MIM:613148] IL10RA Q13651 VAR_063543 p.Gly141Arg LP/P rs137853579 Inflammatory bowel disease 28, autosomal recessive (IBD28) [MIM:613148] IL10RA Q13651 VAR_071663 p.Trp69Arg LP/P rs1343534194 Inflammatory bowel disease 28, autosomal recessive (IBD28) [MIM:613148] IL10RA Q13651 VAR_071664 p.Tyr91Cys LP/P rs1591261607 Inflammatory bowel disease 28, autosomal recessive (IBD28) [MIM:613148] IL10RA Q13651 VAR_071665 p.Arg101Trp LP/P rs368287711 Inflammatory bowel disease 28, autosomal recessive (IBD28) [MIM:613148] IL10RA Q13651 VAR_071666 p.Arg117His LP/P rs199989396 Inflammatory bowel disease 28, autosomal recessive (IBD28) [MIM:613148] IL10RA Q13651 VAR_071667 p.Arg262Cys LP/P rs149491038 Inflammatory bowel disease 28, autosomal recessive (IBD28) [MIM:613148] IL10RB Q08334 VAR_020666 p.Lys47Glu LB/B rs2834167 - IL11 P20809 VAR_016313 p.Val108Met LB/B rs4252576 - IL11 P20809 VAR_016314 p.Arg112His LB/B rs4252548 - IL11RA Q14626 VAR_019821 p.Pro65Thr LB/B rs11575589 - IL11RA Q14626 VAR_019822 p.Arg395Trp LB/B rs11575580 - IL11RA Q14626 VAR_066666 p.Pro221Arg LP/P rs387906785 Craniosynostosis and dental anomalies (CRSDA) [MIM:614188] IL11RA Q14626 VAR_066667 p.Ser245Cys LP/P rs387906786 Craniosynostosis and dental anomalies (CRSDA) [MIM:614188] IL11RA Q14626 VAR_066668 p.Arg296Trp LP/P rs387906784 Craniosynostosis and dental anomalies (CRSDA) [MIM:614188] IL12B P29460 VAR_020001 p.Val33Ile LB/B rs3213096 - IL12B P29460 VAR_049170 p.Val298Phe LB/B rs3213119 - IL12RB1 P42701 VAR_011986 p.Met365Thr LB/B rs375947 - IL12RB1 P42701 VAR_011987 p.Gly378Arg LB/B rs401502 - IL12RB1 P42701 VAR_015577 p.Arg213Trp LP/P rs121434494 Immunodeficiency 30 (IMD30) [MIM:614891] IL12RB1 P42701 VAR_021281 p.Pro3Gln LB/B rs17884651 - IL12RB1 P42701 VAR_021282 p.Pro47Ser LB/B rs17887176 - IL12RB1 P42701 VAR_021283 p.Arg156His LB/B rs11575926 - IL12RB1 P42701 VAR_021284 p.Gln214Arg LB/B rs11575934 - IL12RB1 P42701 VAR_021285 p.His339Gln LB/B rs17884957 - IL12RB2 Q99665 VAR_014805 p.Ile185Val LB/B rs2307146 - IL12RB2 Q99665 VAR_014806 p.Gly420Arg LB/B rs2307148 - IL12RB2 Q99665 VAR_014807 p.Gln426His LB/B rs2307145 - IL12RB2 Q99665 VAR_014808 p.Gly465Asp LB/B rs2307153 - IL12RB2 Q99665 VAR_016097 p.Ala625Val LB/B rs2307154 - IL12RB2 Q99665 VAR_019525 p.Thr201Ile LB/B rs7526769 - IL12RB2 Q99665 VAR_019526 p.Arg313Gly LB/B - - IL12RB2 Q99665 VAR_019527 p.His720Arg LB/B rs1242019108 - IL12RB2 Q99665 VAR_021278 p.Met13Val LB/B rs17129772 - IL12RB2 Q99665 VAR_021279 p.Arg149Gln LB/B rs17129792 - IL12RB2 Q99665 VAR_021280 p.Leu808Arg LB/B rs17838066 - IL12RB2 Q99665 VAR_049169 p.Gly420Ser LB/B rs2307148 - IL13 P35225 VAR_010037 p.Gln144Arg LB/B rs20541 - IL13RA2 Q14627 VAR_021256 p.Trp111Arg LB/B rs17095919 - IL15RA Q13261 VAR_020967 p.Asn182Thr LB/B rs2228059 - IL16 Q14005 VAR_019203 p.Arg889Gln LB/B rs17875512 - IL16 Q14005 VAR_019204 p.Ser906Leu LB/B rs17875513 - IL16 Q14005 VAR_019205 p.Asn1147Lys LB/B rs11556218 - IL16 Q14005 VAR_034013 p.Ser1027Thr LB/B rs34101586 - IL16 Q14005 VAR_053372 p.His1176Arg LB/B rs34159341 - IL16 Q14005 VAR_058310 p.Pro434Ser LB/B rs4072111 - IL17C Q9P0M4 VAR_049598 p.Arg25Gly LB/B rs11465492 - IL17F Q96PD4 VAR_058287 p.Glu126Gly LB/B rs2397084 - IL17F Q96PD4 VAR_058288 p.Val155Ile LB/B rs11465553 - IL17F Q96PD4 VAR_058289 p.His161Arg LB/B rs763780 - IL17F Q96PD4 VAR_065813 p.Ser95Leu LP/P rs748486078 Candidiasis, familial, 6 (CANDF6) [MIM:613956] IL17RA Q96F46 VAR_027966 p.Ala367Val LB/B rs879577 - IL17RA Q96F46 VAR_027967 p.Arg580His LB/B rs17850765 - IL17RA Q96F46 VAR_049176 p.Pro562Gln LB/B rs12484684 - IL17RB Q9NRM6 VAR_019209 p.Phe278Leu LB/B rs2232346 - IL17RB Q9NRM6 VAR_019210 p.Ile451Thr LB/B rs2232350 - IL17RB Q9NRM6 VAR_019211 p.Asn458Ser LB/B rs2232351 - IL17RB Q9NRM6 VAR_019212 p.Cys499Arg LB/B rs28385751 - IL17RB Q9NRM6 VAR_049178 p.Ala209Val LB/B rs2232340 - IL17RB Q9NRM6 VAR_049179 p.Arg232Gln LB/B rs2232343 - IL17RB Q9NRM6 VAR_059304 p.Gly177Arg LB/B rs2232337 - IL17RC Q8NAC3 VAR_022680 p.Ser182Leu LB/B rs708567 - IL17RD Q8NFM7 VAR_023478 p.Thr255Met LB/B rs6780995 - IL17RD Q8NFM7 VAR_023479 p.Val301Met LB/B rs17057718 - IL17RD Q8NFM7 VAR_069936 p.Lys131Thr LP/P rs184758350 Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] IL17RD Q8NFM7 VAR_069937 p.Lys162Arg LP/P - Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] IL17RD Q8NFM7 VAR_069938 p.Pro306Ser LP/P - Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] IL17RD Q8NFM7 VAR_069939 p.Tyr379Cys LP/P rs369641068 Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] IL17RD Q8NFM7 VAR_069940 p.Ser468Leu LP/P rs145221454 Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] IL17RD Q8NFM7 VAR_069941 p.Pro577Gln LP/P rs587776980 Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] IL17RD Q8NFM7 VAR_069942 p.Ala735Val LP/P rs587776979 Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] IL17RE Q8NFR9 VAR_036956 p.Tyr219Cys LB/B rs7356031 - IL17RE Q8NFR9 VAR_036957 p.Pro402Ser LB/B rs9870003 - IL17RE Q8NFR9 VAR_036958 p.Ser417Thr LB/B rs7647642 - IL17REL Q6ZVW7 VAR_039957 p.Leu415Pro LB/B rs5771069 - IL17REL Q6ZVW7 VAR_061187 p.Gly127Arg LB/B rs9617090 - IL18BP O95998 VAR_024497 p.Arg121Gln LB/B rs5743673 - IL18BP O95998 VAR_059393 p.Arg91His LB/B rs5743672 - IL18R1 Q13478 VAR_053379 p.Arg210His LB/B rs11465635 - IL18R1 Q13478 VAR_053380 p.Asn232Lys LB/B rs11465644 - IL18R1 Q13478 VAR_053381 p.Ser310Asn LB/B rs11465648 - IL18R1 Q13478 VAR_053382 p.Gly423Arg LB/B rs12619169 - IL18RAP O95256 VAR_034005 p.Val350Ile LB/B rs11465716 - IL19 Q9UHD0 VAR_013077 p.Phe175Ser LB/B rs2243191 - IL1A P01583 VAR_014304 p.Arg85Gln LB/B rs3783531 - IL1A P01583 VAR_014305 p.Ala114Ser LB/B rs17561 - IL1A P01583 VAR_014306 p.Asp138Asn LB/B rs3783581 - IL1A P01583 VAR_014600 p.Asn125Asp LB/B rs17562 - IL1A P01583 VAR_014601 p.Asp176His LB/B rs1801715 - IL1B P01584 VAR_073951 p.Glu141Asn LB/B rs144640380 - IL1F10 Q8WWZ1 VAR_014262 p.Ile44Thr LB/B rs6761276 - IL1F10 Q8WWZ1 VAR_014263 p.Ala51Asp LB/B rs6743376 - IL1R1 P14778 VAR_019131 p.Ala124Gly LB/B rs2228139 - IL1R1 P14778 VAR_029189 p.Thr344Met LB/B rs28362304 - IL1R2 P27930 VAR_019132 p.Glu181Lys LB/B rs28385682 - IL1R2 P27930 VAR_019133 p.Glu292Lys LB/B rs3218976 - IL1RAP Q9NPH3 VAR_053383 p.Val473Met LB/B rs34661910 - IL1RAPL1 Q9NZN1 VAR_062263 p.Lys379Arg LB/B rs138267399 - IL1RAPL1 Q9NZN1 VAR_062264 p.Gln618His LB/B rs890627874 - IL1RAPL1 Q9NZN1 VAR_062265 p.Thr637Ser LB/B rs756672167 - IL1RAPL1 Q9NZN1 VAR_062266 p.Ile643Val LB/B rs746481663 - IL1RAPL2 Q9NP60 VAR_036592 p.Phe606Leu US - A breast cancer sample IL1RL1 Q01638 VAR_023749 p.Ala78Glu LB/B rs1041973 - IL1RL1 Q01638 VAR_053373 p.Ala433Thr LB/B rs4988956 - IL1RL1 Q01638 VAR_053374 p.Gln501Lys LB/B rs10192036 - IL1RL1 Q01638 VAR_053375 p.Gln501Arg LB/B rs10204137 - IL1RL1 Q01638 VAR_053376 p.Thr549Ile LB/B rs10192157 - IL1RL1 Q01638 VAR_053377 p.Leu551Ser LB/B rs10206753 - IL1RL2 Q9HB29 VAR_025259 p.Val352Ile LB/B rs33946385 - IL1RL2 Q9HB29 VAR_025260 p.Leu550Pro LB/B rs2302612 - IL1RL2 Q9HB29 VAR_053378 p.Ile237Thr LB/B rs13405631 - IL1RN P18510 VAR_049573 p.Ala124Thr LB/B rs45507693 - IL20 Q9NYY1 VAR_049577 p.Arg107Gln LB/B rs35856950 - IL20RA Q9UHF4 VAR_031613 p.Val259Ile LB/B rs1555498 - IL20RA Q9UHF4 VAR_031614 p.Leu382Phe LB/B rs1342642 - IL21 Q9HBE4 VAR_071292 p.Leu56Pro LP/P - Immunodeficiency, common variable, 11 (CVID11) [MIM:615767] IL21R Q9HBE5 VAR_014360 p.Arg191Cys LB/B rs3093370 - IL21R Q9HBE5 VAR_014361 p.Ser318Arg LB/B rs3093385 - IL21R Q9HBE5 VAR_014362 p.Gly484Ser LB/B rs3093386 - IL21R Q9HBE5 VAR_069899 p.Arg201Leu LP/P rs397514685 Immunodeficiency 56 (IMD56) [MIM:615207] IL22 Q9GZX6 VAR_013078 p.Ser158Gly LB/B rs2227507 - IL22RA1 Q8N6P7 VAR_039699 p.Ser130Pro LB/B rs34900099 - IL22RA1 Q8N6P7 VAR_039700 p.Val205Ile LB/B rs16829204 - IL22RA1 Q8N6P7 VAR_039701 p.Ala209Ser LB/B rs34379702 - IL22RA1 Q8N6P7 VAR_039702 p.Leu222Pro LB/B rs34782294 - IL22RA1 Q8N6P7 VAR_039703 p.Met407Val LB/B rs35401673 - IL22RA1 Q8N6P7 VAR_039704 p.Arg518Gly LB/B rs3795299 - IL22RA2 Q969J5 VAR_021493 p.Leu16Pro LB/B rs28385692 - IL22RA2 Q969J5 VAR_021494 p.Glu190Lys LB/B rs28362173 - IL23R Q5VWK5 VAR_029752 p.Gln3His LB/B rs1884444 - IL23R Q5VWK5 VAR_029753 p.Leu310Pro LB/B rs7530511 - IL23R Q5VWK5 VAR_029754 p.Arg381Gln LB/B rs11209026 - IL23R Q5VWK5 VAR_047955 p.Thr175Asn LB/B rs11465797 - IL24 Q13007 VAR_011974 p.Tyr124His LB/B rs1150258 - IL24 Q13007 VAR_013097 p.His125Arg LB/B rs3093431 - IL24 Q13007 VAR_013098 p.Val131Leu LB/B rs3093446 - IL27 Q8NEV9 VAR_039140 p.Ser59Ala LB/B rs17855750 - IL27 Q8NEV9 VAR_039141 p.Leu119Pro LB/B rs181206 - IL2RA P01589 VAR_019280 p.Ile272Thr LB/B rs12722712 - IL2RA P01589 VAR_074641 p.Tyr41Ser LP/P rs796051888 Immunodeficiency 41 with lymphoproliferation and autoimmunity (IMD41) [MIM:606367] IL2RA P01589 VAR_074642 p.Ser166Asn LP/P rs796051887 Immunodeficiency 41 with lymphoproliferation and autoimmunity (IMD41) [MIM:606367] IL2RB P14784 VAR_019998 p.Asp391Glu LB/B rs228942 - IL2RB P14784 VAR_021994 p.Ser83Phe LB/B rs2228143 - IL2RB P14784 VAR_061186 p.Leu10Val LB/B rs57770674 - IL2RB P14784 VAR_083103 p.Leu77Pro LP/P rs934523851 Immunodeficiency 63 with lymphoproliferation and autoimmunity (IMD63) [MIM:618495] IL2RG P31785 VAR_002668 p.Asp39Asn LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002669 p.Cys62Gly LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002670 p.Glu68Gly LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002671 p.Glu68Lys LP/P rs1057520644 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002672 p.Asn84Lys LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002673 p.Tyr89Cys LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002674 p.Tyr105Cys LP/P rs193922347 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002675 p.Gly114Asp LP/P rs111033620 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002676 p.Cys115Phe LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002677 p.Cys115Arg LP/P rs111033622 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002678 p.His123Pro LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002679 p.Tyr125Asn LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002680 p.Gln144Pro LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002681 p.Ile153Asn LP/P rs111033621 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002682 p.Ala156Val LP/P rs1057521062 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002683 p.Leu162His LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002684 p.Leu172Pro LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002685 p.Leu172Gln LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002686 p.Cys182Arg LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002687 p.Leu183Ser LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002688 p.Arg222Cys LP/P rs111033618 X-linked combined immunodeficiency (XCID) [MIM:312863] IL2RG P31785 VAR_002689 p.Arg224Trp LP/P rs869320658 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002690 p.Arg226Cys LP/P rs869320659 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002691 p.Arg226His LP/P rs869320660 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002692 p.Phe227Cys LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002693 p.Leu230Pro LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002694 p.Cys231Tyr LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002695 p.Gly232Arg LP/P rs1569479909 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002697 p.Trp240Cys LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002698 p.Ser241Ile LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002699 p.Met270Arg LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002701 p.Arg285Gln LP/P rs111033617 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002702 p.Leu293Gln LP/P rs137852510 X-linked combined immunodeficiency (XCID) [MIM:312863] IL2RG P31785 VAR_020611 p.Glu109Lys LB/B rs17875899 - IL2RG P31785 VAR_059301 p.Thr44Ser LB/B rs7885041 - IL3 P08700 VAR_013071 p.Arg15His LB/B rs2069787 - IL3 P08700 VAR_013072 p.Pro27Ser LB/B rs40401 - IL3 P08700 VAR_034014 p.Arg3Cys LB/B rs35415145 - IL3 P08700 VAR_034015 p.Asn60Ser LB/B rs35482671 - IL31RA Q8NI17 VAR_030328 p.Asp155Asn LB/B rs13184107 - IL31RA Q8NI17 VAR_030329 p.Ser497Asn LB/B rs161704 - IL31RA Q8NI17 VAR_065809 p.Ser489Phe LP/P - Amyloidosis, primary localized cutaneous, 2 (PLCA2) [MIM:613955] IL32 P24001 VAR_005506 p.Asp152Asn LB/B - - IL33 O95760 VAR_049576 p.Ile263Met LB/B rs16924241 - IL34 Q6ZMJ4 VAR_033164 p.Glu123Gln LB/B rs8046424 - IL34 Q6ZMJ4 VAR_056920 p.Ser195Thr LB/B rs7206509 - IL36A Q9UHA7 VAR_024504 p.Gln12Arg LB/B rs895497 - IL36A Q9UHA7 VAR_025055 p.Ile63Thr LB/B rs28938798 - IL36A Q9UHA7 VAR_025056 p.Gly134Arg LB/B rs28947175 - IL36B Q9NZH7 VAR_025057 p.Arg36Cys LB/B rs34754959 - IL36G Q9NZH8 VAR_024505 p.Gln69Lys LB/B rs6707930 - IL36RN Q9UBH0 VAR_023239 p.Asn47Ser LB/B rs28938777 - IL36RN Q9UBH0 VAR_066646 p.Leu27Pro LP/P rs387906914 Psoriasis 14, pustular (PSORS14) [MIM:614204] IL36RN Q9UBH0 VAR_066647 p.Arg48Trp LP/P rs151325121 Psoriasis 14, pustular (PSORS14) [MIM:614204] IL36RN Q9UBH0 VAR_066648 p.Ser113Leu LP/P rs144478519 Psoriasis 14, pustular (PSORS14) [MIM:614204] IL36RN Q9UBH0 VAR_068972 p.Thr123Arg LP/P rs397514629 Psoriasis 14, pustular (PSORS14) [MIM:614204] IL37 Q9NZH6 VAR_014260 p.Gly31Val LB/B rs3811046 - IL37 Q9NZH6 VAR_014261 p.Thr42Ala LB/B rs3811047 - IL37 Q9NZH6 VAR_023334 p.Pro108Leu LB/B rs2723187 - IL37 Q9NZH6 VAR_023335 p.Arg152Trp LB/B rs28947200 - IL37 Q9NZH6 VAR_023336 p.Trp164Arg LB/B rs2708947 - IL37 Q9NZH6 VAR_023337 p.Asp218Asn LB/B rs2723192 - IL37 Q9NZH6 VAR_049574 p.Pro50Arg LB/B rs2708943 - IL37 Q9NZH6 VAR_049575 p.Asn54Ser LB/B rs2723183 - IL37 Q9NZH6 VAR_086000 p.Ile177Thr LP/P rs750833867 Inflammatory bowel disease 31, autosomal recessive (IBD31) [MIM:619398] IL3RA P26951 VAR_021113 p.Ala12Thr LB/B rs6647004 - IL3RA P26951 VAR_021114 p.Glu77Gly LB/B rs17886756 - IL3RA P26951 VAR_021115 p.Ser123Thr LB/B rs17883572 - IL3RA P26951 VAR_021116 p.Val323Leu LB/B rs17883366 - IL4 P05112 VAR_020392 p.Cys27Arg LB/B rs4986964 - IL4I1 Q96RQ9 VAR_048260 p.Ala501Ser LB/B rs2290772 - IL4I1 Q96RQ9 VAR_083941 p.Asn92Asp LB/B rs111772144 - IL4I1 Q96RQ9 VAR_083942 p.Arg102Gly US - An ovarian cancer IL4R P24394 VAR_008034 p.Ile75Val LB/B rs1805010 - IL4R P24394 VAR_008035 p.Gln576Arg LB/B rs1801275 - IL4R P24394 VAR_011657 p.Glu400Ala LB/B rs1805011 - IL4R P24394 VAR_011658 p.Cys431Arg LB/B rs1805012 - IL4R P24394 VAR_011659 p.Ser436Leu LB/B rs1805013 - IL4R P24394 VAR_011660 p.Ser503Pro LB/B rs1805015 - IL4R P24394 VAR_011661 p.Val579Ile LB/B rs3024677 - IL4R P24394 VAR_011662 p.Ser752Ala LB/B rs1805016 - IL4R P24394 VAR_011663 p.Ser786Pro LB/B rs1805014 - IL4R P24394 VAR_019999 p.Ser387Leu LB/B rs6413500 - IL4R P24394 VAR_020000 p.Pro675Ser LB/B rs3024678 - IL4R P24394 VAR_049164 p.Ala492Thr LB/B rs35606110 - IL4R P24394 VAR_049165 p.Ala492Val LB/B rs34727572 - IL4R P24394 VAR_059302 p.Ile75Phe LB/B rs1805010 - IL4R P24394 VAR_059303 p.Ile75Leu LB/B rs1805010 - IL5RA Q01344 VAR_020654 p.Ile129Val LB/B rs2290610 - IL5RA Q01344 VAR_020655 p.Val262Ala LB/B rs17879690 - IL6 P05231 VAR_013075 p.Pro32Ser LB/B rs2069830 - IL6 P05231 VAR_013076 p.Asp162Val LB/B rs2069860 - IL6 P05231 VAR_029266 p.Asp162Glu LB/B rs13306435 - IL6R P08887 VAR_021995 p.Asp358Ala LB/B rs2228145 - IL6R P08887 VAR_049166 p.Val385Ile LB/B rs2228146 - IL6R P08887 VAR_084713 p.Ile279Asn LP/P rs1689606931 Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections (HIES5) [MIM:618944] IL6R P08887 VAR_084714 p.His280Pro US - Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections (HIES5) [MIM:618944] IL6ST P40189 VAR_036165 p.Thr415Ile US - A colorectal cancer sample IL6ST P40189 VAR_047782 p.Leu8Val LB/B rs1063560 - IL6ST P40189 VAR_047783 p.Gly148Arg LB/B rs2228044 - IL6ST P40189 VAR_047784 p.Leu397Val LB/B rs2228043 - IL6ST P40189 VAR_047785 p.Ile454Thr LB/B rs2228046 - IL6ST P40189 VAR_047786 p.Val499Ile LB/B rs34417936 - IL6ST P40189 VAR_074654 p.Ala200Gly US rs199905033 - IL6ST P40189 VAR_083197 p.Asn404Tyr LP/P - Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections (HIES4B) [MIM:618523] IL6ST P40189 VAR_083198 p.Pro498Leu LP/P - Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections (HIES4B) [MIM:618523] IL6ST P40189 VAR_086952 p.Ala517Pro LP/P - Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections (HIES4B) [MIM:618523] IL7R P16871 VAR_021286 p.Ile66Thr LB/B rs1494558 - IL7R P16871 VAR_021287 p.Glu113Asp LB/B rs11567735 - IL7R P16871 VAR_021288 p.Val138Ile LB/B rs1494555 - IL7R P16871 VAR_021289 p.Thr244Ile LB/B rs6897932 - IL7R P16871 VAR_021290 p.Ile356Val LB/B rs3194051 - IL7R P16871 VAR_034870 p.Pro132Ser LP/P rs104893894 Immunodeficiency 104 (IMD104) [MIM:608971] IL7R P16871 VAR_047742 p.Thr414Met LB/B rs2229232 - IL9 P15248 VAR_013079 p.Thr117Met LB/B rs2069885 - IL9R Q01113 VAR_014804 p.Glu239Gln LB/B rs6522 - IL9R Q01113 VAR_033920 p.Tyr288Cys LB/B rs149119910 - IL9R Q01113 VAR_038784 p.Arg63Lys LB/B rs3093495 - IL9R Q01113 VAR_055348 p.Gly331Arg LB/B rs2230001 - IL9R Q01113 VAR_055349 p.Arg365His LB/B rs2228650 - ILDR1 Q86SU0 VAR_065352 p.Arg97Gln LP/P rs771818841 Deafness, autosomal recessive, 42 (DFNB42) [MIM:609646] ILDR1 Q86SU0 VAR_065353 p.Arg453Gln US rs372564314 Deafness, autosomal recessive, 42 (DFNB42) [MIM:609646] ILDR1 Q86SU0 VAR_065354 p.Arg463Cys LB/B rs778163752 - ILDR1 Q86SU0 VAR_079750 p.Ile357Val LB/B rs1448131970 - ILDR2 Q71H61 VAR_049948 p.Val202Ile LB/B rs33958744 - ILF3 Q12906 VAR_022159 p.Asp50His LB/B rs1064493 - ILF3 Q12906 VAR_048906 p.Ala501Ser LB/B rs34520379 - ILK Q13418 VAR_069753 p.Ala262Val US rs387907366 - ILKAP Q9H0C8 VAR_061542 p.Ile66Met LB/B rs34371548 - ILVBL A1L0T0 VAR_038064 p.Asn374Asp LB/B rs17856373 - ILVBL A1L0T0 VAR_061901 p.Arg510Gln LB/B rs35548653 - IMMT Q16891 VAR_021530 p.Pro124Ser LB/B rs1050301 - IMMT Q16891 VAR_051068 p.Ala294Val LB/B rs35233009 - IMPA1 P29218 VAR_049600 p.Ile109Val LB/B rs204781 - IMPA2 O14732 VAR_049601 p.Ala88Thr LB/B rs16976948 - IMPACT Q9P2X3 VAR_042723 p.Asp125Glu LB/B rs582234 - IMPACT Q9P2X3 VAR_042724 p.Leu151Val LB/B rs677688 - IMPACT Q9P2X3 VAR_077844 p.Ala74Val LB/B rs544203385 - IMPDH1 P20839 VAR_017031 p.Arg224Pro LP/P - Retinitis pigmentosa 10 (RP10) [MIM:180105] IMPDH1 P20839 VAR_017032 p.Asp226Asn LP/P - Retinitis pigmentosa 10 (RP10) [MIM:180105] IMPDH1 P20839 VAR_017033 p.Val268Ile LP/P - Retinitis pigmentosa 10 (RP10) [MIM:180105] IMPDH1 P20839 VAR_065616 p.Arg105Trp LP/P - Leber congenital amaurosis 11 (LCA11) [MIM:613837] IMPDH1 P20839 VAR_065617 p.Thr116Met LP/P - Retinitis pigmentosa 10 (RP10) [MIM:180105] IMPDH1 P20839 VAR_065618 p.Asn198Lys LP/P - Leber congenital amaurosis 11 (LCA11) [MIM:613837] IMPDH1 P20839 VAR_065619 p.Ala285Thr LB/B - - IMPDH1 P20839 VAR_065620 p.Gly324Asp US - - IMPDH1 P20839 VAR_065621 p.His372Pro LP/P - Retinitis pigmentosa 10 (RP10) [MIM:180105] IMPDH2 P12268 VAR_070542 p.Leu263Phe LB/B rs121434586 - IMPG1 Q17R60 VAR_027793 p.His518Asp LB/B rs3734311 - IMPG1 Q17R60 VAR_027794 p.Arg704Trp LB/B rs10943299 - IMPG1 Q17R60 VAR_051069 p.Gly463Val LB/B rs9443201 - IMPG1 Q17R60 VAR_051070 p.Lys569Arg LB/B rs3734312 - IMPG1 Q17R60 VAR_051071 p.Arg711His LB/B rs3734313 - IMPG1 Q17R60 VAR_051072 p.Ser761Asn LB/B rs3778005 - IMPG1 Q17R60 VAR_072668 p.Leu154Pro US rs713993047 Macular dystrophy, vitelliform, 4 (VMD4) [MIM:616151] IMPG1 Q17R60 VAR_072669 p.Leu238Arg LP/P rs713993045 Macular dystrophy, vitelliform, 4 (VMD4) [MIM:616151] IMPG1 Q17R60 VAR_072670 p.Leu579Pro LP/P rs1782008883 Retinitis pigmentosa 91 (RP91) [MIM:153870] IMPG1 Q17R60 VAR_082192 p.Leu238Pro US - - IMPG1 Q17R60 VAR_086246 p.Leu613Pro US rs1781948884 Retinitis pigmentosa 91 (RP91) [MIM:153870] IMPG1 Q17R60 VAR_086247 p.Leu626Phe US rs1051579797 Retinitis pigmentosa 91 (RP91) [MIM:153870] IMPG2 Q9BZV3 VAR_039144 p.Lys344Asn LB/B rs34375459 - IMPG2 Q9BZV3 VAR_039145 p.Thr674Ile LB/B rs571391 - IMPG2 Q9BZV3 VAR_039146 p.Pro1013Leu LB/B rs116450347 - IMPG2 Q9BZV3 VAR_064336 p.Phe124Leu LP/P rs201893545 Macular dystrophy, vitelliform, 5 (VMD5) [MIM:616152] IMPG2 Q9BZV3 VAR_072671 p.Cys1077Phe LP/P rs713993049 Macular dystrophy, vitelliform, 5 (VMD5) [MIM:616152] IMPG2 Q9BZV3 VAR_082180 p.Ala243Pro US rs1706811719 - IMPG2 Q9BZV3 VAR_082182 p.Ser379Pro US - - IMPG2 Q9BZV3 VAR_082188 p.Gly1008Asp US - - IMPG2 Q9BZV3 VAR_082189 p.Phe1016Ser US - - IMPG2 Q9BZV3 VAR_082190 p.Tyr1042Cys US - - INA Q16352 VAR_033497 p.Asp149His LB/B rs1063456 - INA Q16352 VAR_036369 p.Glu110Gln US - A breast cancer sample INA Q16352 VAR_049808 p.Thr92Ser LB/B rs1063455 - INAVA Q3KP66 VAR_030835 p.Arg538Cys LB/B rs296520 - INAVA Q3KP66 VAR_080249 p.Tyr333Phe LP/P rs41313912 Inflammatory bowel disease 29 (IBD29) [MIM:618077] INCENP Q9NQS7 VAR_047127 p.Gly2Val LB/B rs1792947 - INCENP Q9NQS7 VAR_047128 p.Arg100His LB/B rs12281503 - INCENP Q9NQS7 VAR_047129 p.Ala137Val LB/B rs34441559 - INCENP Q9NQS7 VAR_047130 p.Met506Thr LB/B rs2277283 - INCENP Q9NQS7 VAR_047131 p.Glu644Asp LB/B rs7129085 - INF2 Q27J81 VAR_037117 p.Pro1096Ser LB/B rs34251364 - INF2 Q27J81 VAR_037118 p.Thr1135Met LB/B rs3803311 - INF2 Q27J81 VAR_063075 p.Ala13Thr LP/P rs201383094 Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_063076 p.Leu42Pro LP/P rs267606880 Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_063077 p.Glu184Lys LP/P rs1566778676 Charcot-Marie-Tooth disease, dominant intermediate E (CMTDIE) [MIM:614455] INF2 Q27J81 VAR_063077 p.Glu184Lys LP/P rs1566778676 Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_063078 p.Ser186Pro LP/P rs267606877 Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_063079 p.Leu198Arg LP/P - Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_063080 p.Arg214His LP/P rs267606879 Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_063081 p.Arg218Gln LP/P rs267607183 Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_063082 p.Arg218Trp LP/P rs267606878 Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_063083 p.Glu220Lys LP/P rs530391015 Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_067589 p.Cys104Phe LP/P rs387907035 Charcot-Marie-Tooth disease, dominant intermediate E (CMTDIE) [MIM:614455] INF2 Q27J81 VAR_067590 p.Cys104Arg LP/P rs387907034 Charcot-Marie-Tooth disease, dominant intermediate E (CMTDIE) [MIM:614455] INF2 Q27J81 VAR_067591 p.Cys104Trp LP/P rs387907036 Charcot-Marie-Tooth disease, dominant intermediate E (CMTDIE) [MIM:614455] INF2 Q27J81 VAR_067592 p.Leu128Pro LP/P rs387907037 Charcot-Marie-Tooth disease, dominant intermediate E (CMTDIE) [MIM:614455] INF2 Q27J81 VAR_067593 p.Leu132Arg LP/P rs387907038 Charcot-Marie-Tooth disease, dominant intermediate E (CMTDIE) [MIM:614455] INF2 Q27J81 VAR_068845 p.Leu245Pro LP/P - Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_072229 p.Leu76Pro LP/P - Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_072230 p.Arg177His LP/P rs1566778651 Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_072231 p.Asn183Lys LB/B - - INF2 Q27J81 VAR_072232 p.Glu184Gln LP/P - Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_072233 p.Tyr193His LP/P - Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_072234 p.Asn202Asp LP/P - Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_072235 p.Ala203Asp LP/P rs1595166203 Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_072236 p.Arg214Cys LP/P rs912928648 Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_072237 p.Gly547Asp LB/B rs376451593 - INF2 Q27J81 VAR_072238 p.Gly1160Ser LB/B rs9672065 - INF2 Q27J81 VAR_073984 p.Leu57Arg US rs1595163736 Charcot-Marie-Tooth disease, dominant intermediate E (CMTDIE) [MIM:614455] INF2 Q27J81 VAR_073985 p.Phe68Ser US rs1595163801 Charcot-Marie-Tooth disease, dominant intermediate E (CMTDIE) [MIM:614455] INF2 Q27J81 VAR_073987 p.Leu77Arg US rs1595163851 Charcot-Marie-Tooth disease, dominant intermediate E (CMTDIE) [MIM:614455] INF2 Q27J81 VAR_073988 p.Val105Gly LP/P rs1555373363 Charcot-Marie-Tooth disease, dominant intermediate E (CMTDIE) [MIM:614455] INF2 Q27J81 VAR_073989 p.Gly114Asp LB/B rs1595164091 - INF2 Q27J81 VAR_073990 p.Leu132Pro LP/P rs387907038 Charcot-Marie-Tooth disease, dominant intermediate E (CMTDIE) [MIM:614455] INF2 Q27J81 VAR_073991 p.Leu162Arg LP/P - Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_079801 p.Gly73Ser US rs1566777560 Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_079802 p.Leu81Pro LP/P - Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_079804 p.Cys151Arg LP/P - Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_079805 p.His158Asp LP/P - Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_079806 p.Arg177Cys LP/P rs1595166085 Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_079807 p.Val181Gly US - Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] ING1 Q9UK53 VAR_017420 p.Ala335Asp LP/P - Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355] ING1 Q9UK53 VAR_017421 p.Cys358Ser LP/P - Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355] ING1 Q9UK53 VAR_017422 p.Asn359Ser LP/P - Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355] ING1 Q9UK53 VAR_047097 p.Leu125Arg LB/B rs7338333 - ING3 Q9NXR8 VAR_021263 p.Asp20Gly LP/P - Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355] INHA P05111 VAR_015110 p.Ala257Thr LB/B rs12720062 - INHA P05111 VAR_034016 p.Gly227Arg LB/B rs12720061 - INHA P05111 VAR_072639 p.Arg60Leu US - - INHBA P08476 VAR_052566 p.Gln299Pro LB/B rs41294833 - INHBA P08476 VAR_072640 p.Gly280Glu US - - INHBA P08476 VAR_072641 p.Asn386Ser US rs1361491625 - INHBC P55103 VAR_024230 p.Arg322Gln LB/B rs2229357 - INHBE P58166 VAR_036198 p.Arg62Thr US - A breast cancer sample INHBE P58166 VAR_036199 p.Gln215His US - A breast cancer sample INMT O95050 VAR_011616 p.Met205Val LB/B rs2302339 - INMT O95050 VAR_011617 p.Glu219Gly LB/B rs2302340 - INMT O95050 VAR_036991 p.Asp28Asn LB/B rs4723010 - INMT O95050 VAR_036992 p.Asn246Ser LB/B rs6970210 - INMT O95050 VAR_036993 p.Phe254Cys LB/B rs4720015 - INMT O95050 VAR_036994 p.Arg258His LB/B rs6970605 - INMT O95050 VAR_061373 p.Val214Met LB/B rs56800285 - INO80 Q9ULG1 VAR_049500 p.Ile882Val LB/B rs34153025 - INO80 Q9ULG1 VAR_061233 p.Val1108Gly LB/B rs34178030 - INO80B Q9C086 VAR_055083 p.Trp152Gly LB/B rs1054209 - INO80D Q53TQ3 VAR_039012 p.Ala358Val LB/B rs2909111 - INPP1 P49441 VAR_019669 p.Thr228Ala LB/B rs7592352 - INPP1 P49441 VAR_049599 p.Val355Met LB/B rs35616200 - INPP4A Q96PE3 VAR_059359 p.Thr604Ala LB/B rs2278206 - INPP4B O15327 VAR_023324 p.Tyr311Phe LB/B rs1064226 - INPP5A Q14642 VAR_034006 p.Lys45Arg LB/B rs1133400 - INPP5B P32019 VAR_028002 p.Met745Thr LB/B rs11488569 - INPP5B P32019 VAR_061270 p.Gly46Ser LB/B rs56993041 - INPP5D Q92835 VAR_034979 p.Val685Glu US - - INPP5D Q92835 VAR_059358 p.His1169Tyr LB/B rs9247 - INPP5E Q9NRR6 VAR_047078 p.Ile201Met LB/B rs36064831 - INPP5E Q9NRR6 VAR_063012 p.Arg378Cys LP/P rs121918130 Joubert syndrome 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_063013 p.Arg435Gln LP/P rs121918129 Joubert syndrome 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_063014 p.Arg512Trp LP/P rs374152018 Joubert syndrome 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_063015 p.Arg515Trp LP/P rs13297509 Joubert syndrome 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_063016 p.Arg563His LP/P rs121918128 Joubert syndrome 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_063017 p.Lys580Glu LP/P - Joubert syndrome 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_076892 p.Arg621Gln LP/P rs1588830568 Joubert syndrome 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_077247 p.Gly286Arg LP/P rs757936530 Joubert syndrome 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_077248 p.Val303Met LP/P rs746212325 Joubert syndrome 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_077249 p.Arg345Ser LP/P - Joubert syndrome 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_077250 p.Thr426Asn LP/P - Joubert syndrome 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_077251 p.Trp474Arg US - Joubert syndrome 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_077252 p.Tyr534Asp LP/P - Joubert syndrome 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_077253 p.Arg585Cys LP/P rs763992407 Joubert syndrome 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_077254 p.Cys641Arg LP/P - Joubert syndrome 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_081790 p.Gly522Ala LP/P rs771866500 Joubert syndrome 1 (JBTS1) [MIM:213300] INPP5F Q9Y2H2 VAR_042907 p.Ile453Val LB/B rs3736822 - INPP5F Q9Y2H2 VAR_042908 p.Asn997Asp LB/B rs3188055 - INPP5J Q15735 VAR_028107 p.Ser333Ile LB/B rs12485025 - INPP5K Q9BT40 VAR_036497 p.Ser315Phe US - A breast cancer sample INPP5K Q9BT40 VAR_078998 p.Val23Met LP/P rs750781027 Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404] INPP5K Q9BT40 VAR_078999 p.Ile50Thr LP/P rs1060505038 Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404] INPP5K Q9BT40 VAR_079000 p.Met93Val LP/P rs1060505039 Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404] INPP5K Q9BT40 VAR_079001 p.Gly140Ser LP/P rs749383757 Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404] INPP5K Q9BT40 VAR_079002 p.Asp269Asn LP/P rs761612652 Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404] INPP5K Q9BT40 VAR_079004 p.Tyr300Cys LP/P rs766046008 Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404] INPP5K Q9BT40 VAR_079005 p.Ile363Thr LP/P rs993849342 Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404] INPPL1 O15357 VAR_034980 p.Leu632Ile LB/B rs61749195 - INPPL1 O15357 VAR_034981 p.Val721Met LB/B rs116848359 - INPPL1 O15357 VAR_034982 p.Asn982Ser LB/B rs70940821 - INPPL1 O15357 VAR_034983 p.Ala1083Gly LB/B rs11548491 - INPPL1 O15357 VAR_034984 p.Ala1114Gly LB/B rs1049472 - INPPL1 O15357 VAR_069586 p.Arg401Trp LP/P rs397514511 Opsismodysplasia (OPSMD) [MIM:258480] INPPL1 O15357 VAR_069587 p.Pro659Ser LP/P rs397514510 Opsismodysplasia (OPSMD) [MIM:258480] INPPL1 O15357 VAR_069588 p.Trp688Cys LP/P - Opsismodysplasia (OPSMD) [MIM:258480] INPPL1 O15357 VAR_069589 p.Phe722Ile LP/P rs397514512 Opsismodysplasia (OPSMD) [MIM:258480] INS P01308 VAR_003971 p.His34Asp LP/P rs121918101 Hyperproinsulinemia (HPRI) [MIM:616214] INS P01308 VAR_003972 p.Phe48Ser LP/P rs80356668 Hyperproinsulinemia (HPRI) [MIM:616214] INS P01308 VAR_003973 p.Phe49Leu LB/B rs148685531 - INS P01308 VAR_003974 p.Arg89His LP/P rs28933985 Hyperproinsulinemia (HPRI) [MIM:616214] INS P01308 VAR_003975 p.Arg89Leu LP/P rs28933985 Hyperproinsulinemia (HPRI) [MIM:616214] INS P01308 VAR_003976 p.Val92Leu LB/B rs121918102 - INS P01308 VAR_063721 p.Arg6Cys LP/P rs121908278 Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370] INS P01308 VAR_063722 p.Arg6His LP/P rs121908259 Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370] INS P01308 VAR_063723 p.Ala24Asp LP/P rs80356663 Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INS P01308 VAR_063724 p.His29Asp LP/P rs121908272 Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INS P01308 VAR_063725 p.Gly32Arg LP/P rs80356664 Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INS P01308 VAR_063726 p.Gly32Ser LP/P rs80356664 Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INS P01308 VAR_063727 p.Leu35Pro LP/P rs121908273 Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INS P01308 VAR_063728 p.Cys43Gly LP/P rs80356666 Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INS P01308 VAR_063729 p.Arg46Gln LP/P rs121908260 Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370] INS P01308 VAR_063730 p.Gly47Val LP/P rs80356667 Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INS P01308 VAR_063731 p.Phe48Cys LP/P rs80356668 Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INS P01308 VAR_063732 p.Arg55Cys LP/P rs121908261 Type 1 diabetes mellitus 2 (T1D2) [MIM:125852] INS P01308 VAR_063733 p.Leu68Met LB/B rs121908279 - INS P01308 VAR_063734 p.Gly84Arg US rs121908274 Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INS P01308 VAR_063735 p.Arg89Cys LP/P rs80356669 Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INS P01308 VAR_063736 p.Gly90Cys LP/P rs80356670 Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INS P01308 VAR_063737 p.Cys96Ser LP/P rs80356671 Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INS P01308 VAR_063738 p.Cys96Tyr LP/P rs80356671 Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INS P01308 VAR_063739 p.Ser101Cys LP/P rs121908276 Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INS P01308 VAR_063740 p.Tyr103Cys LP/P rs121908277 Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INS P01308 VAR_063741 p.Tyr108Cys LP/P rs80356672 Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INSC Q1MX18 VAR_027852 p.Gln450Arg LB/B rs7123855 - INSC Q1MX18 VAR_051073 p.Asp333Asn LB/B rs17507577 - INSIG1 O15503 VAR_027683 p.Ala27Thr LB/B rs1129825 - INSL3 P51460 VAR_013231 p.Ala24Gly LB/B rs186828508 - INSL3 P51460 VAR_013232 p.Val43Leu LB/B - - INSL3 P51460 VAR_013233 p.Pro49Ser US rs751299877 - INSL3 P51460 VAR_013234 p.Thr60Ala LB/B rs6523 - INSL3 P51460 VAR_013235 p.Pro93Leu LP/P rs104894697 Cryptorchidism (CRYPTO) [MIM:219050] INSL3 P51460 VAR_013236 p.Arg102Cys LP/P rs104894698 Cryptorchidism (CRYPTO) [MIM:219050] INSL3 P51460 VAR_013237 p.Arg102His LB/B rs121912556 - INSL3 P51460 VAR_017122 p.Asn110Lys LP/P rs121912555 Cryptorchidism (CRYPTO) [MIM:219050] INSL5 Q9Y5Q6 VAR_046099 p.Gln50Leu LB/B rs549148 - INSL6 Q9Y581 VAR_024329 p.Phe80Leu LB/B rs2149554 - INSM2 Q96T92 VAR_070885 p.Asp206Gly LB/B rs1958260 - INSR P06213 VAR_004079 p.Asn42Lys LP/P rs121913143 Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_004080 p.Val55Ala LP/P rs121913152 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_004081 p.Gly58Arg LP/P rs52836744 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_004082 p.Arg113Pro LP/P rs121913153 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_004083 p.Pro220Leu LB/B rs749094324 - INSR P06213 VAR_004084 p.His236Arg LP/P rs121913145 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_004084 p.His236Arg LP/P rs121913145 Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_004085 p.Leu260Pro LP/P rs121913141 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_004086 p.Gly393Arg LP/P rs267607184 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_004087 p.Phe409Val LP/P rs121913142 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004088 p.Lys487Glu LP/P rs121913136 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_004089 p.Asn489Ser LP/P rs121913147 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004090 p.Arg762Ser LP/P rs121913138 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004091 p.Val1012Met LB/B rs1799816 - INSR P06213 VAR_004092 p.Arg1020Gln LP/P rs121913148 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004093 p.Gly1035Val LP/P rs121913135 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004094 p.Ala1075Asp LP/P - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004095 p.Ala1161Thr LP/P rs121913139 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004096 p.Ala1162Glu LP/P rs121913154 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004097 p.Met1180Ile LB/B rs121913157 - INSR P06213 VAR_004098 p.Arg1191Gln LP/P rs121913150 Type 2 diabetes mellitus (T2D) [MIM:125853] INSR P06213 VAR_004099 p.Pro1205Leu LP/P rs1295645322 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004100 p.Trp1220Leu LP/P rs52800171 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004101 p.Trp1227Ser LP/P rs121913140 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015539 p.Ile146Met LP/P rs121913159 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015540 p.Arg279Cys LP/P rs1568470274 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015542 p.Trp439Ser LP/P rs121913158 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015907 p.Asp86Gly LP/P - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015908 p.Leu89Pro LP/P - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015909 p.Ala119Val LP/P rs1347473020 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015910 p.Val167Leu LP/P rs938519025 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015911 p.Cys280Tyr LP/P - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015912 p.Cys301Tyr LP/P - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015914 p.Ser350Leu LP/P - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015914 p.Ser350Leu LP/P - Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_015915 p.Ile448Thr LB/B rs1051691 - INSR P06213 VAR_015916 p.Gln492Lys LB/B - - INSR P06213 VAR_015917 p.Thr858Ala LP/P rs182552223 Type 2 diabetes mellitus (T2D) [MIM:125853] INSR P06213 VAR_015918 p.Ile925Thr LP/P rs1599881881 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015919 p.Arg926Trp LP/P rs911929963 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015920 p.Thr937Met LP/P - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015921 p.Pro997Thr LP/P - Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_015922 p.Ile1023Phe LB/B - - INSR P06213 VAR_015923 p.Ala1055Val LP/P rs1599874183 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015924 p.Lys1095Glu LB/B rs909008899 - INSR P06213 VAR_015925 p.Arg1119Trp LP/P rs1229730671 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015926 p.Ile1143Thr LP/P - Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_015927 p.Arg1158Gln LP/P - Type 2 diabetes mellitus (T2D) [MIM:125853] INSR P06213 VAR_015928 p.Arg1158Trp LP/P rs111993466 Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_015929 p.Arg1201Gln LP/P rs121913156 Hyperinsulinemic hypoglycemia, familial, 5 (HHF5) [MIM:609968] INSR P06213 VAR_015929 p.Arg1201Gln LP/P rs121913156 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015930 p.Arg1201Trp LP/P rs1568426700 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015930 p.Arg1201Trp LP/P rs1568426700 Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_015931 p.Glu1206Asp LP/P - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015932 p.Glu1206Lys LP/P - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015933 p.Tyr1361Cys LB/B rs13306449 - INSR P06213 VAR_015934 p.Arg1378Gln LP/P rs52826008 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_031518 p.Leu120Gln LP/P - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_031519 p.Arg279His LP/P rs1329693158 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_031520 p.Gly386Ser LP/P rs764221583 Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_031521 p.Asn458Asp LP/P rs121913160 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_041429 p.Cys228Arg US - A gastric adenocarcinoma sample INSR P06213 VAR_041430 p.Gln695Arg LB/B rs55906835 - INSR P06213 VAR_041431 p.Gly811Ser LB/B rs35045353 - INSR P06213 VAR_041432 p.Leu1065Val LB/B rs56395521 - INSR P06213 VAR_041433 p.Thr1282Ala LB/B rs55875349 - INSR P06213 VAR_055986 p.Pro830Leu LB/B rs2162771 - INSR P06213 VAR_058395 p.Ala2Gly LB/B rs7508518 - INSR P06213 VAR_058396 p.Tyr171His LB/B rs1051692 - INSR P06213 VAR_079535 p.Ile56Thr LP/P rs1555689937 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_079536 p.Arg256Cys LP/P rs781007453 Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_079537 p.Cys286Tyr LP/P - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_079538 p.Asn489Asp US rs1135401742 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_079539 p.Ser635Leu LP/P - Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_079540 p.Val657Phe LP/P rs1135401737 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_079541 p.Trp659Arg LP/P - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_079542 p.Tyr818Cys LP/P - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_079543 p.Ser835Ile LP/P rs1135401739 Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_079544 p.Ala842Val LP/P rs1135401738 Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_079545 p.Pro874Leu LP/P - Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_079546 p.Asn878Ser LP/P rs887190835 Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_079549 p.Val1054Met US rs1135401741 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSRR P14616 VAR_041434 p.Ala127Glu LB/B rs55757706 - INSRR P14616 VAR_041435 p.Ala161Val LB/B rs55971900 - INSRR P14616 VAR_041436 p.Arg244His LB/B rs55951840 - INSRR P14616 VAR_041437 p.Cys246Arg LB/B rs56377825 - INSRR P14616 VAR_041438 p.Glu278Gln US - A lung adenocarcinoma sample INSRR P14616 VAR_041439 p.Arg554Cys LB/B rs56068937 - INSRR P14616 VAR_041440 p.Pro928Leu LB/B rs56252149 - INSRR P14616 VAR_041441 p.Gly1065Glu US - A glioblastoma multiforme sample INSYN2A Q6ZSG2 VAR_042679 p.Ala147Val LB/B rs11594560 - INTS1 Q8N201 VAR_049627 p.Pro172Leu LB/B rs3752714 - INTS1 Q8N201 VAR_083352 p.Arg77Cys US rs200649090 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies (NDCAGF) [MIM:618571] INTS1 Q8N201 VAR_083353 p.Met549Val LP/P rs1030646527 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies (NDCAGF) [MIM:618571] INTS1 Q8N201 VAR_083355 p.Pro1874Leu US rs1162809128 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies (NDCAGF) [MIM:618571] INTS1 Q8N201 VAR_083357 p.Leu2164Pro US rs1302980015 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies (NDCAGF) [MIM:618571] INTS11 Q5TA45 VAR_088661 p.Gly12Ser US - Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) [MIM:620428] INTS11 Q5TA45 VAR_088662 p.Arg17Leu US - Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) [MIM:620428] INTS11 Q5TA45 VAR_088663 p.Phe39Ser US - Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) [MIM:620428] INTS11 Q5TA45 VAR_088664 p.Gly55Ser US - Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) [MIM:620428] INTS11 Q5TA45 VAR_088665 p.Leu138Phe US - Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) [MIM:620428] INTS11 Q5TA45 VAR_088666 p.Arg217Trp US - Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) [MIM:620428] INTS11 Q5TA45 VAR_088667 p.Glu218Gly US - Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) [MIM:620428] INTS11 Q5TA45 VAR_088668 p.Arg219Gln US - Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) [MIM:620428] INTS11 Q5TA45 VAR_088669 p.Lys396Glu US - Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) [MIM:620428] INTS11 Q5TA45 VAR_088670 p.Pro407Ser US - Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) [MIM:620428] INTS11 Q5TA45 VAR_088671 p.His414Tyr US - Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) [MIM:620428] INTS11 Q5TA45 VAR_088672 p.Val515Met US - Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) [MIM:620428] INTS11 Q5TA45 VAR_088673 p.Val551Glu US - Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) [MIM:620428] INTS11 Q5TA45 VAR_088674 p.Tyr578Cys US - Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) [MIM:620428] INTS12 Q96CB8 VAR_049629 p.Thr323Ala LB/B rs34567094 - INTS13 Q9NVM9 VAR_035673 p.Ser227Pro US - A colorectal cancer sample INTS13 Q9NVM9 VAR_050864 p.Met66Thr LB/B rs2306852 - INTS15 Q96N11 VAR_061593 p.Arg245Cys LB/B rs35534502 - INTS2 Q9H0H0 VAR_049628 p.Asn768His LB/B rs606072 - INTS6L Q5JSJ4 VAR_069425 p.Ile769Val LB/B - - INTS7 Q9NVH2 VAR_028963 p.His425Arg LB/B rs17851788 - INTS8 Q75QN2 VAR_083358 p.Asp298Gly LP/P rs1586479593 Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (NEDCHS) [MIM:618572] INTU Q9ULD6 VAR_076782 p.Ala452Thr LB/B rs150681845 - INTU Q9ULD6 VAR_076783 p.Glu500Ala US rs1360128571 Short-rib thoracic dysplasia 20 with polydactyly (SRTD20) [MIM:617925] INVS Q9Y283 VAR_022822 p.Pro482Arg LP/P - Nephronophthisis 2 (NPHP2) [MIM:602088] INVS Q9Y283 VAR_022823 p.Leu493Ser LP/P rs121964995 Nephronophthisis 2 (NPHP2) [MIM:602088] INVS Q9Y283 VAR_044119 p.Ser242Leu LB/B rs2491097 - INVS Q9Y283 VAR_044120 p.Ser888Arg LB/B rs1052867 - IP6K3 Q96PC2 VAR_031590 p.Arg60Trp LB/B rs34431226 - IP6K3 Q96PC2 VAR_031591 p.Ala308Val LB/B rs34573836 - IP6K3 Q96PC2 VAR_031592 p.Val312Ile LB/B rs4713668 - IP6K3 Q96PC2 VAR_031593 p.Tyr378Ser LB/B rs34343647 - IPCEF1 Q8WWN9 VAR_042410 p.Ser194Pro LB/B rs1060390 - IPMK Q8NFU5 VAR_022112 p.Met349Ile LB/B rs2275443 - IPO11 Q9UI26 VAR_050004 p.Asn260Asp LB/B rs35107530 - IPO11 Q9UI26 VAR_050005 p.Ile937Val LB/B rs11544795 - IPO4 Q8TEX9 VAR_030758 p.Ala513Val LB/B rs7146310 - IPO4 Q8TEX9 VAR_030759 p.Pro580Ala LB/B rs11550452 - IPO5 O00410 VAR_012029 p.Leu286Ile LB/B rs1053814 - IPO5 O00410 VAR_012030 p.Glu525Lys LB/B rs632729 - IPO5 O00410 VAR_012031 p.Glu549Lys LB/B rs484770 - IPO5 O00410 VAR_012032 p.Tyr905Cys LB/B rs1804740 - IPO5 O00410 VAR_012033 p.Thr969Ile LB/B rs1804741 - IPO7 O95373 VAR_050003 p.Thr111Asn LB/B rs11042340 - IPO8 O15397 VAR_055118 p.Ile6Phe LB/B rs1054423 - IPO8 O15397 VAR_055119 p.Ile640Val LB/B rs34119940 - IPO8 O15397 VAR_086234 p.Asp88Asn LP/P rs1234764565 VISS syndrome (VISS) [MIM:619472] IPO8 O15397 VAR_086237 p.Tyr317Cys US - VISS syndrome (VISS) [MIM:619472] IPO8 O15397 VAR_086241 p.Cys749Arg LP/P - VISS syndrome (VISS) [MIM:619472] IPO8 O15397 VAR_086243 p.Arg834Trp LP/P rs1425433912 VISS syndrome (VISS) [MIM:619472] IPP Q9Y573 VAR_050045 p.Lys264Arg LB/B rs28375469 - IPPK Q9H8X2 VAR_049641 p.Arg277Trp LB/B rs2277168 - IPPK Q9H8X2 VAR_049642 p.Leu376Phe LB/B rs2277170 - IQANK1 A8MXQ7 VAR_044540 p.Thr465Arg LB/B rs4875053 - IQCA1 Q86XH1 VAR_031495 p.Lys452Arg LB/B rs10204742 - IQCA1 Q86XH1 VAR_060983 p.Lys8Met LB/B rs35114730 - IQCA1 Q86XH1 VAR_060984 p.Gln362Arg LB/B rs3754644 - IQCB1 Q15051 VAR_051074 p.Phe142Leu LB/B rs11926958 - IQCB1 Q15051 VAR_051075 p.Ile393Asn LB/B rs1141528 - IQCB1 Q15051 VAR_051076 p.Arg435Cys LB/B rs11920543 - IQCB1 Q15051 VAR_061668 p.Cys434Tyr LB/B rs17849995 - IQCC Q4KMZ1 VAR_031411 p.Phe209Cys LB/B rs3903683 - IQCC Q4KMZ1 VAR_031412 p.Cys217Tyr LB/B rs12032332 - IQCC Q4KMZ1 VAR_031413 p.Pro464Leu LB/B rs41306593 - IQCD Q96DY2 VAR_056921 p.Leu136Val LB/B rs7966313 - IQCE Q6IPM2 VAR_031697 p.His101Asn LB/B rs11976972 - IQCE Q6IPM2 VAR_031698 p.Ala546Val LB/B rs2293404 - IQCE Q6IPM2 VAR_031699 p.Arg587His LB/B rs10950797 - IQCE Q6IPM2 VAR_031700 p.Thr596Ala LB/B rs2293407 - IQCE Q6IPM2 VAR_031701 p.Leu666Val LB/B rs3735109 - IQCE Q6IPM2 VAR_031702 p.Thr690Met LB/B rs1061566 - IQCF1 Q8N6M8 VAR_031414 p.Arg114Gln LB/B rs11927897 - IQCF1 Q8N6M8 VAR_055096 p.Gln76Lys LB/B rs17852683 - IQCG Q9H095 VAR_031415 p.Ala112Asp LB/B rs9880989 - IQCH Q86VS3 VAR_051077 p.Val932Leu LB/B rs3985641 - IQCK Q8N0W5 VAR_031416 p.Leu220Pro LB/B rs7191155 - IQCN Q9H0B3 VAR_023418 p.Leu44Pro LB/B rs1469023 - IQCN Q9H0B3 VAR_023419 p.Leu235Val LB/B rs8103906 - IQCN Q9H0B3 VAR_023420 p.Ser285Thr LB/B rs8104533 - IQCN Q9H0B3 VAR_023421 p.Met359Thr LB/B rs3746186 - IQCN Q9H0B3 VAR_023422 p.Pro908His LB/B rs999813 - IQCN Q9H0B3 VAR_034042 p.Tyr648Phe LB/B rs8110972 - IQCN Q9H0B3 VAR_034043 p.Pro823Arg LB/B rs12608777 - IQCN Q9H0B3 VAR_049520 p.Ala50Val LB/B rs3810431 - IQCN Q9H0B3 VAR_049521 p.Cys197Arg LB/B rs12609001 - IQCN Q9H0B3 VAR_049522 p.Thr524Ala LB/B rs12462974 - IQCN Q9H0B3 VAR_049523 p.Thr610Pro LB/B rs2277922 - IQCN Q9H0B3 VAR_049524 p.Ala614Val LB/B rs16982285 - IQCN Q9H0B3 VAR_049525 p.Pro835Leu LB/B rs2277921 - IQGAP1 P46940 VAR_049134 p.Ser256Ala LB/B rs12324924 - IQGAP2 Q13576 VAR_055823 p.Val455Ala LB/B rs7722711 - IQGAP2 Q13576 VAR_055824 p.Pro479Arg LB/B rs3822530 - IQGAP2 Q13576 VAR_055825 p.Arg714Trp LB/B rs35366349 - IQGAP2 Q13576 VAR_055826 p.Thr894Ile LB/B rs34950321 - IQGAP2 Q13576 VAR_055827 p.Arg1052Ile LB/B rs2287932 - IQGAP2 Q13576 VAR_055828 p.Asn1184Ser LB/B rs10454915 - IQGAP2 Q13576 VAR_055829 p.Arg1379Trp LB/B rs17681908 - IQGAP2 Q13576 VAR_059292 p.Lys532Glu LB/B rs2909888 - IQGAP2 Q13576 VAR_062958 p.Asp527Glu LB/B rs2431352 - IQGAP2 Q13576 VAR_062959 p.Leu629Phe LB/B rs2455230 - IQGAP2 Q13576 VAR_062960 p.Ile724Val LB/B rs2431363 - IQGAP2 Q13576 VAR_069434 p.Tyr1445Cys LB/B rs369078465 - IQGAP2 Q13576 VAR_069435 p.Met1530Ile LB/B rs150409607 - IQGAP3 Q86VI3 VAR_055278 p.Arg391Gly LB/B rs2488269 - IQGAP3 Q86VI3 VAR_055279 p.Val410Leu LB/B rs11264498 - IQGAP3 Q86VI3 VAR_055280 p.Asp645Asn LB/B rs11264496 - IQGAP3 Q86VI3 VAR_055281 p.Arg663Cys LB/B rs744224 - IQGAP3 Q86VI3 VAR_055282 p.His770Tyr LB/B rs1078890 - IQGAP3 Q86VI3 VAR_055283 p.Gln1061His LB/B rs11804414 - IQGAP3 Q86VI3 VAR_055284 p.Pro1097Ser LB/B rs12562301 - IQSEC1 Q6DN90 VAR_027004 p.Val882Ile LB/B rs17541405 - IQSEC1 Q6DN90 VAR_051927 p.Pro640Ser LB/B rs35319679 - IQSEC1 Q6DN90 VAR_083480 p.Arg335Gln LP/P rs758170522 Intellectual developmental disorder with short stature and behavioral abnormalities (IDDSSBA) [MIM:618687] IQSEC1 Q6DN90 VAR_083481 p.Thr357Met LP/P rs765723607 Intellectual developmental disorder with short stature and behavioral abnormalities (IDDSSBA) [MIM:618687] IQSEC2 Q5JU85 VAR_063742 p.Arg359Cys LP/P rs267607188 Intellectual developmental disorder, X-linked 1 (XLID1) [MIM:309530] IQSEC2 Q5JU85 VAR_063743 p.Arg758Gln LP/P rs267607189 Intellectual developmental disorder, X-linked 1 (XLID1) [MIM:309530] IQSEC2 Q5JU85 VAR_063744 p.Gln801Pro LP/P rs267607187 Intellectual developmental disorder, X-linked 1 (XLID1) [MIM:309530] IQSEC2 Q5JU85 VAR_063745 p.Arg863Trp LP/P rs267607186 Intellectual developmental disorder, X-linked 1 (XLID1) [MIM:309530] IQSEC2 Q5JU85 VAR_078260 p.Ala789Val LP/P rs875989799 Intellectual developmental disorder, X-linked 1 (XLID1) [MIM:309530] IQSEC3 Q9UPP2 VAR_061789 p.Ala558Gly LB/B rs56204927 - IQUB Q8NA54 VAR_030332 p.Val126Met LB/B rs10255061 - IQUB Q8NA54 VAR_030333 p.Asp691Asn LB/B rs17146009 - IQUB Q8NA54 VAR_030334 p.Arg735Pro LB/B rs1525626 - IQUB Q8NA54 VAR_036291 p.Arg735His US rs1525626 A colorectal cancer sample IRAG1 Q9Y6F6 VAR_056942 p.Ile11Val LB/B rs4909945 - IRAG1 Q9Y6F6 VAR_056943 p.Ala28Thr LB/B rs34302310 - IRAG1 Q9Y6F6 VAR_056944 p.Ala70Thr LB/B rs2162044 - IRAG1 Q9Y6F6 VAR_056945 p.Pro186Ser LB/B rs35857561 - IRAG1 Q9Y6F6 VAR_056946 p.Gln289His LB/B rs34398944 - IRAG2 Q12912 VAR_054545 p.Thr94Ala LB/B rs6487451 - IRAG2 Q12912 VAR_054546 p.Leu197Val LB/B rs7969931 - IRAG2 Q12912 VAR_054547 p.Leu241Trp LB/B rs1063159 - IRAG2 Q12912 VAR_054548 p.Cys253Ser LB/B rs1908946 - IRAK1 P51617 VAR_040573 p.Thr398Met LB/B rs56340948 - IRAK1 P51617 VAR_040574 p.Val412Met US - A glioblastoma multiforme sample IRAK1 P51617 VAR_040575 p.Gln421His US - A breast pleomorphic lobular carcinoma sample IRAK1 P51617 VAR_040576 p.Ser532Leu LB/B rs1059703 - IRAK1 P51617 VAR_040577 p.Gly619Ser LB/B rs34112487 - IRAK1 P51617 VAR_040578 p.Thr625Met LB/B rs35638718 - IRAK1 P51617 VAR_040579 p.Arg638Trp LB/B rs56082801 - IRAK1 P51617 VAR_040580 p.Ser690Gly US - A lung adenocarcinoma sample IRAK1 P51617 VAR_051629 p.Arg194His LB/B rs11465830 - IRAK1 P51617 VAR_051630 p.Phe196Ser LB/B rs1059702 - IRAK1 P51617 VAR_051631 p.Cys203Ser LB/B rs10127175 - IRAK2 O43187 VAR_030527 p.Ser47Tyr LB/B rs11465864 - IRAK2 O43187 VAR_030528 p.Leu392Val LB/B rs3844283 - IRAK2 O43187 VAR_030529 p.Asp431Glu LB/B rs708035 - IRAK2 O43187 VAR_030530 p.Leu439Val LB/B rs11465927 - IRAK2 O43187 VAR_030531 p.Leu503Ile LB/B rs9854688 - IRAK2 O43187 VAR_030532 p.Asp574His LB/B rs11465930 - IRAK2 O43187 VAR_041342 p.Arg43Gln LB/B rs34945585 - IRAK2 O43187 VAR_041343 p.Ile99Val LB/B rs55898544 - IRAK2 O43187 VAR_041344 p.Arg147Thr LB/B rs56053222 - IRAK2 O43187 VAR_041345 p.Arg214Gly LB/B rs35060588 - IRAK2 O43187 VAR_041346 p.Ser249Leu US - A lung adenocarcinoma sample IRAK2 O43187 VAR_041347 p.Pro421Thr US - A lung adenocarcinoma sample IRAK2 O43187 VAR_041348 p.Asp469Asn LB/B rs56242986 - IRAK2 O43187 VAR_041349 p.Arg566Trp LB/B rs55740652 - IRAK3 Q9Y616 VAR_019812 p.Ile147Val LB/B rs1152888 - IRAK3 Q9Y616 VAR_031077 p.Ile270Val LB/B rs11465972 - IRAK3 Q9Y616 VAR_033901 p.Gly269Ser LB/B rs35823766 - IRAK3 Q9Y616 VAR_035212 p.Pro22Leu LB/B rs536546109 - IRAK3 Q9Y616 VAR_035213 p.Pro111Ala LB/B rs373806603 - IRAK3 Q9Y616 VAR_035214 p.Val134Met LB/B rs138559915 - IRAK3 Q9Y616 VAR_035215 p.Leu400Val LB/B rs146120640 - IRAK3 Q9Y616 VAR_035216 p.Arg429Gln LB/B rs140671957 - IRAK3 Q9Y616 VAR_040581 p.His57Arg LB/B rs35239505 - IRAK3 Q9Y616 VAR_040582 p.Gly84Ser LB/B rs34443407 - IRAK3 Q9Y616 VAR_040583 p.Ile171Val LB/B rs34682166 - IRAK3 Q9Y616 VAR_040584 p.Ser288Leu LB/B rs35574245 - IRAK3 Q9Y616 VAR_040585 p.Arg384Gln LB/B rs34272472 - IRAK3 Q9Y616 VAR_040586 p.Met391Thr LB/B rs35737689 - IRAK3 Q9Y616 VAR_040587 p.Asp482Asn LB/B rs35756811 - IRAK4 Q9NWZ3 VAR_019354 p.Ser98Arg LB/B rs4251469 - IRAK4 Q9NWZ3 VAR_019355 p.His390Arg LB/B rs4251583 - IRAK4 Q9NWZ3 VAR_019356 p.Ala428Thr LB/B rs4251545 - IRAK4 Q9NWZ3 VAR_040588 p.Ile5Val LB/B rs56312115 - IRAK4 Q9NWZ3 VAR_040589 p.Met355Val LB/B rs142376871 - IRAK4 Q9NWZ3 VAR_040590 p.Arg391His LB/B rs55944915 - IRAK4 Q9NWZ3 VAR_072888 p.Arg12Cys LP/P rs377584435 Immunodeficiency 67 (IMD67) [MIM:607676] IRAK4 Q9NWZ3 VAR_072889 p.Arg20Trp LB/B rs143625818 - IRAK4 Q9NWZ3 VAR_072890 p.Ile26Thr LB/B rs138116867 - IRAK4 Q9NWZ3 VAR_072891 p.Ile39Val LB/B rs113588409 - IRAK4 Q9NWZ3 VAR_072892 p.Gly298Asp LP/P rs568782766 Immunodeficiency 67 (IMD67) [MIM:607676] IREB2 P48200 VAR_058410 p.Ile580Thr LB/B rs2230940 - IRF1 P10914 VAR_065134 p.Met8Leu LP/P rs121912469 Gastric cancer (GASC) [MIM:613659] IRF1 P10914 VAR_065135 p.Trp11Arg LP/P rs121912470 Gastric cancer (GASC) [MIM:613659] IRF2BP1 Q8IU81 VAR_042502 p.Met24Ile LB/B rs11550349 - IRF2BP2 Q7Z5L9 VAR_042503 p.Ala254Val LB/B rs11502 - IRF2BP2 Q7Z5L9 VAR_080578 p.Ser551Asn LP/P rs1553319504 Immunodeficiency, common variable, 14 (CVID14) [MIM:617765] IRF2BPL Q9H1B7 VAR_081419 p.Gly195Val US rs770422700 Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS) [MIM:618088] IRF2BPL Q9H1B7 VAR_081420 p.Pro372Arg US rs1555377336 Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS) [MIM:618088] IRF2BPL Q9H1B7 VAR_081421 p.Lys418Asn LP/P rs201073695 Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS) [MIM:618088] IRF3 Q14653 VAR_011901 p.Arg96Gln LB/B rs968457 - IRF3 Q14653 VAR_011902 p.Glu377Lys LB/B rs1049486 - IRF3 Q14653 VAR_011903 p.Ser427Thr LB/B rs7251 - IRF3 Q14653 VAR_049643 p.Tyr107Phe LB/B rs34745118 - IRF3 Q14653 VAR_075805 p.Arg285Gln LP/P rs750526659 Encephalopathy, acute, infection-induced, 7, herpes-specific (IIAE7) [MIM:616532] IRF3 Q14653 VAR_084071 p.Asn146Lys US - - IRF3 Q14653 VAR_084072 p.Arg227Gln US - - IRF3 Q14653 VAR_084073 p.Leu401Val US - - IRF6 O14896 VAR_014961 p.Ala2Val LP/P rs28942093 Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014962 p.Val18Ala LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014963 p.Val18Met LP/P rs2077940645 Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014964 p.Pro39Ala LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014965 p.Trp60Gly LP/P - Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_014966 p.Ala61Gly LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014967 p.Lys66Thr LP/P - Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_014968 p.Gly70Arg LP/P rs776236749 Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014969 p.Pro76Ser LP/P rs886039388 Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014970 p.Gln82Lys LP/P - Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_014971 p.Arg84Cys LP/P rs121434226 Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_014972 p.Arg84His LP/P rs121434227 Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_014973 p.Asn88His LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014974 p.Lys89Glu LP/P - Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_014975 p.Ser90Gly LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014976 p.Asp98His LP/P rs1571983348 Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014977 p.Arg250Gln LP/P rs1553247774 Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014978 p.Gln273Arg LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014979 p.Val274Ile LB/B rs2235371 - IRF6 O14896 VAR_014981 p.Leu294Pro LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014982 p.Val297Ile LP/P rs779827384 Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014983 p.Lys320Glu LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014984 p.Val321Met LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014985 p.Gly325Glu LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014986 p.Leu345Pro LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014987 p.Cys347Phe LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014988 p.Phe369Ser LP/P rs1185412313 Non-syndromic orofacial cleft 6 (OFC6) [MIM:608864] IRF6 O14896 VAR_014988 p.Phe369Ser LP/P rs1185412313 Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014989 p.Cys374Trp LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014990 p.Lys388Glu LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014991 p.Asp430Asn LP/P - Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_030046 p.Arg6Cys LP/P rs28942094 Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030047 p.Ala16Val LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030048 p.Leu22Pro LP/P rs387906967 Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_030048 p.Leu22Pro LP/P rs387906967 Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030049 p.Arg45Gln LP/P rs121434229 Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030050 p.Thr64Ile LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030051 p.Arg84Gly LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030052 p.Thr100Ala LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030053 p.Leu251Pro LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030054 p.Glu349Val LP/P - Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030055 p.Pro396Ser LP/P rs121434230 Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030056 p.Arg400Trp LP/P rs28942095 Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_059080 p.Arg339Ile LP/P rs121434231 Van der Woude syndrome 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_064475 p.Arg84Leu LP/P rs121434227 Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_064476 p.Ser424Leu LP/P rs387906968 Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_085700 p.Leu439Pro US rs886038202 Popliteal pterygium syndrome (PPS) [MIM:119500] IRF7 Q92985 VAR_027957 p.Lys179Glu LB/B rs1061502 - IRF7 Q92985 VAR_034017 p.Gln412Arg LB/B rs1131665 - IRF7 Q92985 VAR_061273 p.Asp204Asn LB/B rs41313489 - IRF7 Q92985 VAR_073779 p.Phe410Val LP/P rs786205223 Immunodeficiency 39 (IMD39) [MIM:616345] IRF7 Q92985 VAR_084074 p.Arg37His US - - IRF7 Q92985 VAR_084075 p.Phe95Ser US - - IRF7 Q92985 VAR_084076 p.Asp117Asn US - - IRF7 Q92985 VAR_084077 p.Gly133Arg US - - IRF7 Q92985 VAR_084079 p.Gly214Leu US - - IRF7 Q92985 VAR_084080 p.Thr254Ala US - - IRF7 Q92985 VAR_084081 p.Arg369Gln US - - IRF7 Q92985 VAR_084082 p.Met371Val US - - IRF7 Q92985 VAR_084083 p.Ala419Thr US - - IRF8 Q02556 VAR_036490 p.Arg81Lys US - A breast cancer sample IRF8 Q02556 VAR_036491 p.Ala197Thr US rs1372132995 A breast cancer sample IRF8 Q02556 VAR_070084 p.Thr80Ala LP/P rs397514711 Immunodeficiency 32A (IMD32A) [MIM:614893] IRF8 Q02556 VAR_070085 p.Lys108Glu LP/P rs397514710 Immunodeficiency 32B (IMD32B) [MIM:226990] IRF9 Q00978 VAR_083496 p.Gln127His LB/B rs145480303 - IRF9 Q00978 VAR_083497 p.Arg292Cys LB/B rs1452927917 - IRGC Q6NXR0 VAR_032008 p.Asp135Asn LB/B rs11555891 - IRGM A1A4Y4 VAR_039899 p.Glu17Asp LB/B rs180802994 - IRGM A1A4Y4 VAR_039900 p.Thr94Lys LB/B rs72553867 - IRS1 P35568 VAR_005299 p.Ala512Pro LB/B rs1801276 - IRS1 P35568 VAR_005300 p.Gly971Arg LB/B rs1801278 - IRS1 P35568 VAR_005302 p.Ser1043Tyr LP/P - Type 2 diabetes mellitus (T2D) [MIM:125853] IRS1 P35568 VAR_005303 p.Cys1095Tyr LP/P - Type 2 diabetes mellitus (T2D) [MIM:125853] IRS1 P35568 VAR_014853 p.Pro158Arg LB/B rs1801108 - IRS1 P35568 VAR_014854 p.Met209Thr LB/B rs1801118 - IRS1 P35568 VAR_014855 p.Ser809Phe LB/B rs1801120 - IRS1 P35568 VAR_014856 p.Ser892Gly LB/B rs1801277 - IRS1 P35568 VAR_021837 p.Asp1137Asn LB/B rs3731594 - IRS1 P35568 VAR_025320 p.Thr608Arg LB/B rs104893642 - IRS2 Q9Y4H2 VAR_014857 p.Gly1057Asp LB/B rs1805097 - IRS2 Q9Y4H2 VAR_021557 p.Gly879Ser LB/B rs549588978 - IRS2 Q9Y4H2 VAR_021558 p.Gly882Ala LB/B rs201499247 - IRS2 Q9Y4H2 VAR_033992 p.His789Tyr LB/B rs35223808 - IRS2 Q9Y4H2 VAR_033993 p.Val999Met LB/B rs35927012 - IRS4 O14654 VAR_038042 p.Ala20Val US - A colorectal cancer sample IRS4 O14654 VAR_038043 p.Gly215Glu US - A colorectal cancer sample IRS4 O14654 VAR_038044 p.Gly557Arg US - A colorectal cancer sample IRS4 O14654 VAR_051078 p.Leu34Phe LB/B rs1801162 - IRS4 O14654 VAR_051079 p.Asn508Lys LB/B rs34287560 - IRS4 O14654 VAR_051080 p.His879Asp LB/B rs1801164 - IRS4 O14654 VAR_061669 p.Asp1230Tyr LB/B rs28546943 - IRX3 P78415 VAR_055957 p.Gln479His LB/B rs1126960 - IRX3 P78415 VAR_061267 p.Leu422Pro LB/B rs1450355 - IRX4 P78413 VAR_049583 p.Ala119Thr LB/B rs2232376 - IRX5 P78411 VAR_068483 p.Ala150Pro LP/P rs387907198 Hamamy syndrome (HMMS) [MIM:611174] IRX5 P78411 VAR_068484 p.Asn166Lys LP/P rs786200931 Hamamy syndrome (HMMS) [MIM:611174] ISCA1 Q9BUE6 VAR_079296 p.Glu87Lys US rs776679653 Multiple mitochondrial dysfunctions syndrome 5 (MMDS5) [MIM:617613] ISCA2 Q86U28 VAR_073794 p.Gly77Ser LP/P rs730882246 Multiple mitochondrial dysfunctions syndrome 4 (MMDS4) [MIM:616370] ISCU Q9H1K1 VAR_060728 p.Ala12Val LB/B rs2287555 - ISG15 P05161 VAR_016181 p.Ser83Asn LB/B rs1921 - ISG20L2 Q9H9L3 VAR_038171 p.Asn130Ser LB/B rs3795737 - ISLR O14498 VAR_037454 p.Asp183Asn US rs376998994 A colorectal cancer sample ISLR2 Q6UXK2 VAR_049881 p.Ser137Phe LB/B rs3889598 - ISM1 B1AKI9 VAR_052664 p.Pro193Arg LB/B rs3747933 - ISM2 Q6H9L7 VAR_035365 p.Ala94Thr LB/B rs3742728 - ISM2 Q6H9L7 VAR_035366 p.Pro133Ala LB/B rs11850175 - ISX Q2M1V0 VAR_032448 p.Ser28Gly LB/B rs361863 - ISX Q2M1V0 VAR_032449 p.Pro57Ser LB/B rs362090 - ISX Q2M1V0 VAR_032450 p.Arg83Gln LB/B rs8140287 - ISX Q2M1V0 VAR_032451 p.Ala158Val LB/B rs7291048 - ITGA1 P56199 VAR_034022 p.Thr480Met LB/B rs4145748 - ITGA1 P56199 VAR_034023 p.Ile961Met LB/B rs12520591 - ITGA1 P56199 VAR_034024 p.Glu1108Gly LB/B rs988574 - ITGA1 P56199 VAR_049630 p.Val670Ile LB/B rs2279587 - ITGA10 O75578 VAR_027768 p.Arg381Gln LB/B rs6665210 - ITGA10 O75578 VAR_027769 p.Arg691His LB/B rs2274618 - ITGA10 O75578 VAR_027770 p.Arg725Gln LB/B rs2274616 - ITGA10 O75578 VAR_034026 p.Arg668Trp LB/B rs36073645 - ITGA10 O75578 VAR_034027 p.Ala702Thr LB/B rs35515885 - ITGA11 Q9UKX5 VAR_009889 p.Val433Met LB/B rs2306022 - ITGA11 Q9UKX5 VAR_009890 p.Leu524Arg LB/B rs7168069 - ITGA11 Q9UKX5 VAR_009891 p.Pro972Leu LB/B rs4777035 - ITGA11 Q9UKX5 VAR_009892 p.Met1003Ile LB/B - - ITGA11 Q9UKX5 VAR_009894 p.Leu1093Val LB/B - - ITGA11 Q9UKX5 VAR_020038 p.Met471Leu LB/B rs2306024 - ITGA11 Q9UKX5 VAR_020039 p.Gln891Lys LB/B rs2271725 - ITGA2 P17301 VAR_003977 p.Glu534Lys LB/B rs1801106 - ITGA2 P17301 VAR_020036 p.Lys1127Gln LB/B rs3212645 - ITGA2 P17301 VAR_021855 p.Asn927Ser LB/B rs2287870 - ITGA2 P17301 VAR_029146 p.Asn691Lys LB/B rs3212557 - ITGA2 P17301 VAR_076939 p.Ile532Leu LB/B rs199808499 - ITGA2B P08514 VAR_003979 p.Gly273Asp LP/P rs137852907 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_003980 p.Arg358His LP/P rs137852908 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_003981 p.Gly449Asp LP/P rs1598380253 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_003982 p.Gln778Pro LP/P rs74475415 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_003983 p.Ile874Ser LB/B rs5911 - ITGA2B P08514 VAR_009885 p.Pro176Ala LP/P rs2048640485 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_009886 p.Pro176Leu LP/P - Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_009887 p.Phe320Ser LP/P - Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_009888 p.Glu355Lys LP/P rs137852910 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_014176 p.Thr40Ile LB/B rs5915 - ITGA2B P08514 VAR_014177 p.Tyr968Asn LB/B rs5914 - ITGA2B P08514 VAR_030445 p.Leu86Pro LP/P rs1052533574 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030446 p.Ala139Val LP/P - Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030447 p.Cys161Trp LP/P - Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030448 p.Tyr174His LP/P - Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030449 p.Phe202Cys LP/P - Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030450 p.Thr207Ile LP/P - Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030451 p.Leu214Pro LP/P rs137852911 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030452 p.Phe222Leu LP/P - Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030453 p.Gly267Glu LP/P - Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030454 p.Val329Phe LP/P rs2048619428 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030455 p.Gly380Asp LP/P rs766006685 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030456 p.Ile405Thr LP/P rs75622274 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030457 p.Gly412Arg LP/P rs780786843 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030459 p.Ala581Asp LP/P - Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030460 p.Ile596Thr LP/P rs76811038 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030461 p.Cys705Arg LP/P rs77961246 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030462 p.Leu752Val LP/P rs761174160 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030463 p.Arg755Pro LP/P rs763762304 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030464 p.Leu847Pro LP/P rs1344532070 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030465 p.Pro943Leu LP/P - Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030466 p.Val982Met LP/P rs78657866 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_030467 p.Ala989Thr LB/B rs78165611 - ITGA2B P08514 VAR_030468 p.Arg1026Gln LP/P rs879255514 Bleeding disorder, platelet-type, 16 (BDPLT16) [MIM:187800] ITGA2B P08514 VAR_030468 p.Arg1026Gln LP/P rs879255514 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_054820 p.Gly313Ala LB/B rs1126554 - ITGA2B P08514 VAR_054821 p.Val649Leu LB/B rs7207402 - ITGA2B P08514 VAR_069917 p.Val934Phe LP/P rs77458039 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_069918 p.Ser957Leu LP/P rs80002943 Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B P08514 VAR_069919 p.Arg1026Trp LP/P rs766503255 Bleeding disorder, platelet-type, 16 (BDPLT16) [MIM:187800] ITGA3 P26006 VAR_055967 p.Ile268Phe LB/B rs2230390 - ITGA3 P26006 VAR_055968 p.Ala719Thr LB/B rs2230392 - ITGA3 P26006 VAR_055969 p.Gly840Ser LB/B rs2301626 - ITGA3 P26006 VAR_068808 p.Arg628Pro LP/P rs140781106 Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome (JEB7) [MIM:614748] ITGA3 P26006 VAR_077512 p.Gly125Arg LP/P - Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome (JEB7) [MIM:614748] ITGA3 P26006 VAR_077513 p.Arg274Gln LP/P rs745505565 Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome (JEB7) [MIM:614748] ITGA4 P13612 VAR_003978 p.Arg878Gln LB/B rs1143676 - ITGA4 P13612 VAR_047423 p.Ser634Thr LB/B rs35322532 - ITGA4 P13612 VAR_047424 p.Val824Ala LB/B rs1143675 - ITGA5 P08648 VAR_049631 p.Arg585Ile LB/B rs12318746 - ITGA7 Q13683 VAR_014759 p.Arg695His LB/B rs1800974 - ITGA7 Q13683 VAR_067015 p.Ile457Val LB/B rs17857367 - ITGA7 Q13683 VAR_067016 p.Leu506Met LB/B rs17854599 - ITGA7 Q13683 VAR_067017 p.Arg586His LB/B rs17854598 - ITGA7 Q13683 VAR_067018 p.Ala696Val LB/B rs17855684 - ITGA8 P53708 VAR_018673 p.Val216Leu LB/B rs7895372 - ITGA8 P53708 VAR_018674 p.Ser577Phe LB/B rs2298033 - ITGA8 P53708 VAR_018675 p.Gln581Pro LB/B rs9333269 - ITGA8 P53708 VAR_018676 p.Arg748His LB/B rs9333174 - ITGA8 P53708 VAR_018677 p.Ile993Val LB/B rs9333241 - ITGA8 P53708 VAR_018678 p.Val994Ala LB/B rs1041135 - ITGA8 P53708 VAR_034682 p.Val567Leu LB/B - - ITGA8 P53708 VAR_071106 p.Thr255Met US rs587777281 Renal hypodysplasia/aplasia 1 (RHDA1) [MIM:191830] ITGA8 P53708 VAR_071107 p.Gly407Arg LP/P rs374664941 Renal hypodysplasia/aplasia 1 (RHDA1) [MIM:191830] ITGA9 Q13797 VAR_036073 p.Arg750Cys US rs781472543 A breast cancer sample ITGA9 Q13797 VAR_055091 p.Gly507Glu LB/B rs267561 - ITGAE P38570 VAR_008884 p.Asp360Glu LB/B - - ITGAE P38570 VAR_008885 p.Cys1041Ser LB/B - - ITGAE P38570 VAR_020037 p.Gln892His LB/B rs3744679 - ITGAE P38570 VAR_034025 p.Arg950Trp LB/B rs1716 - ITGAE P38570 VAR_054889 p.Ile477Val LB/B rs220479 - ITGAE P38570 VAR_054890 p.Arg482Gln LB/B rs2272606 - ITGAE P38570 VAR_054891 p.Val1019Ala LB/B rs2976230 - ITGAL P20701 VAR_025235 p.Arg144His LB/B rs34166708 - ITGAL P20701 VAR_025236 p.Arg214Trp LB/B rs1064524 - ITGAL P20701 VAR_025237 p.Gln746Lys LB/B rs34838942 - ITGAL P20701 VAR_025238 p.Arg791Thr LB/B rs2230433 - ITGAM P11215 VAR_043870 p.Arg77His LB/B rs1143679 - ITGAM P11215 VAR_043871 p.Met441Thr LB/B rs1143680 - ITGAM P11215 VAR_043872 p.Ala858Val LB/B rs1143683 - ITGAM P11215 VAR_043873 p.Pro1146Ser LB/B rs1143678 - ITGAV P06756 VAR_024289 p.Ile405Val LB/B rs3738918 - ITGAV P06756 VAR_031547 p.Val783Ile LB/B rs2230616 - ITGAV P06756 VAR_055970 p.Ser548Ala LB/B rs2230615 - ITGAX P20702 VAR_018672 p.Trp48Arg LB/B rs2230424 - ITGAX P20702 VAR_031925 p.Ala251Thr LB/B rs2230428 - ITGAX P20702 VAR_031926 p.Pro517Arg LB/B rs2230429 - ITGAX P20702 VAR_031927 p.Glu547Lys LB/B rs17853815 - ITGAX P20702 VAR_031928 p.Phe971Leu LB/B rs2230427 - ITGAX P20702 VAR_049632 p.Phe201Leu LB/B rs1574566 - ITGAX P20702 VAR_059363 p.Ile564Val LB/B rs189592567 - ITGAX P20702 VAR_066662 p.Ala1012Val LB/B rs181404376 - ITGB2 P05107 VAR_003984 p.Asp128Asn LP/P rs137852615 Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_003985 p.Leu149Pro LP/P rs137852611 Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_003986 p.Gly169Arg LP/P rs137852612 Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_003987 p.Pro178Leu LP/P rs137852614 Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_003988 p.Lys196Thr LP/P rs137852610 Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_003989 p.Gly284Ser LP/P rs137852616 Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_003990 p.Asn351Ser LP/P rs137852613 Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_003991 p.Arg586Trp LP/P rs5030672 Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_003992 p.Arg593Cys LP/P rs137852609 Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_013402 p.Ser138Pro LP/P rs137852617 Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_013403 p.Gly273Arg LP/P rs137852618 Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_030035 p.His354Gln LB/B rs235330 - ITGB2 P05107 VAR_065661 p.Asp128Tyr LP/P rs137852615 Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_065662 p.Ala239Thr LP/P rs179363873 Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_065663 p.Asp300Val LP/P rs179363874 Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_065664 p.Gly716Ala LP/P rs179363872 Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB3 P05106 VAR_003993 p.Leu59Pro LB/B rs5918 - ITGB3 P05106 VAR_003994 p.Arg169Gln LB/B rs5917 - ITGB3 P05106 VAR_003995 p.Pro433Ala LB/B rs121918448 - ITGB3 P05106 VAR_003996 p.Arg515Gln LB/B rs13306487 - ITGB3 P05106 VAR_003997 p.Arg662Cys LB/B rs151219882 - ITGB3 P05106 VAR_003998 p.Asp145Tyr LP/P rs121918445 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_003999 p.Arg240Gln LP/P rs121918444 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_004000 p.Arg240Trp LP/P rs121918446 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_004001 p.His306Pro LP/P rs13306476 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_004002 p.Cys400Tyr LP/P rs121918449 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_004003 p.Cys586Phe LP/P - Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_004004 p.Gly598Ser LP/P - Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_004005 p.Ser778Pro LP/P rs121918447 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_010649 p.Leu143Trp LP/P rs121918452 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_010651 p.Ser188Leu LP/P rs143146734 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_010671 p.Cys568Arg LP/P rs2065157102 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_010672 p.Gly605Ser LP/P rs144884023 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_014178 p.Val453Ile LB/B rs5921 - ITGB3 P05106 VAR_030473 p.Arg119Trp LP/P rs781062792 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_030474 p.Tyr141Cys LP/P - Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_030475 p.Asp145Asn LP/P rs121918445 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_030476 p.Met150Val LP/P rs767548512 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_030477 p.Thr166Ile LB/B rs74708909 - ITGB3 P05106 VAR_030478 p.Leu222Pro LP/P rs79208797 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_030479 p.Arg242Gln LP/P rs377162158 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_030480 p.Asp243Val LP/P - Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_030481 p.Leu288Pro LP/P - Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_030482 p.Met321Leu LP/P - Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_030483 p.Ile330Asn LP/P - Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_030484 p.Cys532Tyr LP/P rs2065130922 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_030485 p.Cys586Arg LP/P - Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_030486 p.Cys601Arg LP/P rs747534508 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_049633 p.Leu66Arg LB/B rs36080296 - ITGB3 P05106 VAR_069920 p.Cys64Tyr LP/P rs74554539 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_069921 p.Met144Arg LP/P rs77963874 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_069922 p.Gly247Asp LP/P rs79560904 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_069923 p.Lys279Met LP/P rs79775494 Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3 P05106 VAR_069924 p.Asp749His LP/P rs398122372 Bleeding disorder, platelet-type, 24 (BDPLT24) [MIM:619271] ITGB3BP Q13352 VAR_048691 p.Ile30Val LB/B rs1058057 - ITGB4 P16144 VAR_004006 p.Cys61Tyr LP/P rs80338755 Epidermolysis bullosa, junctional 5B, with pyloric atresia (JEB5B) [MIM:226730] ITGB4 P16144 VAR_004007 p.Leu156Pro LP/P rs121912461 Epidermolysis bullosa, junctional 5B, with pyloric atresia (JEB5B) [MIM:226730] ITGB4 P16144 VAR_004008 p.Cys245Gly LP/P - Epidermolysis bullosa, junctional 5B, with pyloric atresia (JEB5B) [MIM:226730] ITGB4 P16144 VAR_004009 p.Arg252Cys LP/P rs201494421 Epidermolysis bullosa, junctional 5B, with pyloric atresia (JEB5B) [MIM:226730] ITGB4 P16144 VAR_004010 p.Cys562Arg LP/P rs121912463 Epidermolysis bullosa, junctional 5B, with pyloric atresia (JEB5B) [MIM:226730] ITGB4 P16144 VAR_004011 p.Arg1281Trp LP/P rs121912467 Epidermolysis bullosa, junctional 5B, with pyloric atresia (JEB5B) [MIM:226730] ITGB4 P16144 VAR_010652 p.Cys38Arg LP/P rs121912465 Epidermolysis bullosa, junctional 5B, with pyloric atresia (JEB5B) [MIM:226730] ITGB4 P16144 VAR_011292 p.Arg98His LB/B rs143114124 - ITGB4 P16144 VAR_011293 p.Asp131Tyr LP/P - Epidermolysis bullosa, junctional 5B, with pyloric atresia (JEB5B) [MIM:226730] ITGB4 P16144 VAR_011294 p.Gly273Asp LP/P rs1476568580 Epidermolysis bullosa, junctional 5B, with pyloric atresia (JEB5B) [MIM:226730] ITGB4 P16144 VAR_011295 p.Arg283Cys LP/P rs1422797135 Epidermolysis bullosa, junctional 5B, with pyloric atresia (JEB5B) [MIM:226730] ITGB4 P16144 VAR_011296 p.Val325Asp LP/P rs1304888529 Epidermolysis bullosa, junctional 5B, with pyloric atresia (JEB5B) [MIM:226730] ITGB4 P16144 VAR_011297 p.Leu336Pro LP/P - Epidermolysis bullosa, junctional 5B, with pyloric atresia (JEB5B) [MIM:226730] ITGB4 P16144 VAR_011298 p.Arg844Leu LB/B rs140819116 - ITGB4 P16144 VAR_011299 p.Gly931Asp LP/P rs121912466 Epidermolysis bullosa, junctional 5A, intermediate (JEB5A) [MIM:619816] ITGB4 P16144 VAR_011300 p.His1216Gln LB/B rs149284152 - ITGB4 P16144 VAR_011301 p.Arg1225His LP/P rs121912468 Epidermolysis bullosa, junctional 5B, with pyloric atresia (JEB5B) [MIM:226730] ITGB4 P16144 VAR_027803 p.Gln478His LB/B rs8079267 - ITGB4 P16144 VAR_027804 p.Leu1779Pro LB/B rs871443 - ITGB4 P16144 VAR_055971 p.Thr1764Ser LB/B rs1051486 - ITGB5 P18084 VAR_024290 p.Leu428Val LB/B rs2291090 - ITGB5 P18084 VAR_049634 p.Arg431Gln LB/B rs2291089 - ITGB5 P18084 VAR_049635 p.Asn477Ser LB/B rs2291087 - ITGB6 P18564 VAR_049636 p.Pro437Thr LB/B rs2305820 - ITGB6 P18564 VAR_073328 p.Ala143Thr LP/P rs140015315 Amelogenesis imperfecta 1H (AI1H) [MIM:616221] ITGB6 P18564 VAR_073329 p.Pro196Thr LP/P rs730880298 Amelogenesis imperfecta 1H (AI1H) [MIM:616221] ITGB6 P18564 VAR_073330 p.His275Gln LP/P rs730882118 Amelogenesis imperfecta 1H (AI1H) [MIM:616221] ITGB7 P26010 VAR_049637 p.His672Tyr LB/B rs11539433 - ITGB8 P26012 VAR_034028 p.Ser552Phe LB/B rs5002476 - ITGBL1 O95965 VAR_039542 p.Ala154Ser LB/B rs1140605 - ITIH1 P19827 VAR_004019 p.Glu585Val LB/B rs678 - ITIH1 P19827 VAR_004020 p.Gln595Arg LB/B rs1042779 - ITIH1 P19827 VAR_011873 p.Ser263Thr LB/B rs1042777 - ITIH1 P19827 VAR_011874 p.Gly695Cys LB/B rs1042904 - ITIH1 P19827 VAR_011875 p.Asp844Glu LB/B rs1042849 - ITIH2 P19823 VAR_055248 p.Asn263Ser LB/B rs7075296 - ITIH2 P19823 VAR_055249 p.Leu569Val LB/B rs7084817 - ITIH2 P19823 VAR_055250 p.Pro674Ala LB/B rs3740217 - ITIH3 Q06033 VAR_049647 p.Gln315Lys LB/B rs3617 - ITIH3 Q06033 VAR_049648 p.Thr340Met LB/B rs35271262 - ITIH3 Q06033 VAR_049649 p.Thr751Ala LB/B rs9883888 - ITIH3 Q06033 VAR_049650 p.Arg825Gln LB/B rs2710330 - ITIH3 Q06033 VAR_049651 p.Ala858Val LB/B rs2710329 - ITIH3 Q06033 VAR_061275 p.Pro640Leu LB/B rs60805548 - ITIH4 Q14624 VAR_013836 p.Ile86Asn LB/B - - ITIH4 Q14624 VAR_027869 p.Ile85Asn LB/B rs13072536 - ITIH4 Q14624 VAR_027870 p.Gln669Leu LB/B rs2276814 - ITIH4 Q14624 VAR_027871 p.Pro698Thr LB/B rs4687657 - ITIH4 Q14624 VAR_027872 p.Met714Ile LB/B rs2256734 - ITIH4 Q14624 VAR_027873 p.Leu791Pro LB/B rs2535621 - ITIH5 Q86UX2 VAR_042847 p.Glu139Lys LB/B rs12761771 - ITIH5 Q86UX2 VAR_042848 p.Asn207His LB/B rs36056263 - ITIH5 Q86UX2 VAR_042849 p.Thr570Pro LB/B rs2275069 - ITIH5 Q86UX2 VAR_042850 p.Arg629Cys LB/B rs34213756 - ITIH5 Q86UX2 VAR_055973 p.Asn421His LB/B rs36056263 - ITIH5 Q86UX2 VAR_055974 p.Phe925Ser LB/B rs10795551 - ITIH5 Q86UX2 VAR_061276 p.Val496Met LB/B rs35892621 - ITIH6 Q6UXX5 VAR_032042 p.Gly387Arg LB/B rs34188213 - ITIH6 Q6UXX5 VAR_032043 p.Arg561Cys LB/B rs34004499 - ITIH6 Q6UXX5 VAR_032044 p.Trp1041Ser LB/B rs17316491 - ITIH6 Q6UXX5 VAR_032045 p.Gly1170Ala LB/B rs35355718 - ITK Q08881 VAR_041710 p.Arg19Lys US - A metastatic melanoma sample ITK Q08881 VAR_041711 p.Pro23Leu US - A metastatic melanoma sample ITK Q08881 VAR_041712 p.Arg451Gln US rs779372373 A gastric adenocarcinoma sample ITK Q08881 VAR_041713 p.Arg581Trp LB/B rs34482255 - ITK Q08881 VAR_041714 p.Val587Ile LB/B rs56005928 - ITK Q08881 VAR_051696 p.Arg193Gln LB/B rs17054374 - ITK Q08881 VAR_063424 p.Arg335Trp LP/P rs121908191 Lymphoproliferative syndrome 1 (LPFS1) [MIM:613011] ITLN1 Q8WWA0 VAR_019924 p.Val109Asp LB/B rs2274907 - ITLN1 Q8WWA0 VAR_019925 p.Arg313Pro LB/B rs8144 - ITLN2 Q8WWU7 VAR_019926 p.Arg103His LB/B rs6680969 - ITLN2 Q8WWU7 VAR_049076 p.Gln171Arg LB/B rs12090411 - ITM2A O43736 VAR_034029 p.Ala72Val LB/B rs35056863 - ITM2A O43736 VAR_034030 p.Arg230Thr LB/B rs35629312 - ITM2B Q9Y287 VAR_071047 p.Ala15Thr LB/B rs11556905 - ITM2B Q9Y287 VAR_072434 p.Glu261Ala LP/P rs606231283 Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (RDGCA) [MIM:616079] ITM2C Q9NQX7 VAR_022111 p.Gly53Ser LB/B rs2289235 - ITPA Q9BY32 VAR_015576 p.Pro32Thr LP/P rs1127354 Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) [MIM:613850] ITPA Q9BY32 VAR_075084 p.Arg178Cys US rs746930990 Developmental and epileptic encephalopathy 35 (DEE35) [MIM:616647] ITPKB P27987 VAR_022380 p.Pro552Gln LB/B rs708776 - ITPKB P27987 VAR_023768 p.Ser408Ala LB/B rs6667260 - ITPKB P27987 VAR_053444 p.Ala322Thr LB/B rs3754413 - ITPR1 Q14643 VAR_037005 p.Met769Val LB/B rs35789999 - ITPR1 Q14643 VAR_037006 p.Ile1430Val LB/B rs3749383 - ITPR1 Q14643 VAR_069567 p.Asn602Asp LP/P rs397514536 Spinocerebellar ataxia 29 (SCA29) [MIM:117360] ITPR1 Q14643 VAR_069569 p.Val1562Met LP/P rs397514535 Spinocerebellar ataxia 29 (SCA29) [MIM:117360] ITPR1 Q14643 VAR_077462 p.Glu2109Gln LP/P - Gillespie syndrome (GLSP) [MIM:206700] ITPR1 Q14643 VAR_077463 p.Gly2554Arg LP/P rs752281590 Gillespie syndrome (GLSP) [MIM:206700] ITPR1 Q14643 VAR_077464 p.Phe2601Leu LP/P rs878853176 Gillespie syndrome (GLSP) [MIM:206700] ITPR1 Q14643 VAR_081167 p.Pro1083Leu LP/P rs121912425 Spinocerebellar ataxia 15 (SCA15) [MIM:606658] ITPR2 Q14571 VAR_055963 p.Ala453Val LB/B rs2230384 - ITPR2 Q14571 VAR_055964 p.Glu1143Asp LB/B rs2230373 - ITPR2 Q14571 VAR_055965 p.Ala1898Val LB/B rs2230382 - ITPR2 Q14571 VAR_073688 p.Gly2498Ser LP/P rs786204832 Anhidrosis, isolated, with normal sweat glands (ANHD) [MIM:106190] ITPR3 Q14573 VAR_046978 p.Arg667Gln LB/B rs11963294 - ITPR3 Q14573 VAR_046979 p.Asp742Glu LB/B rs2229633 - ITPR3 Q14573 VAR_046980 p.Gly1029Val LB/B rs2296333 - ITPR3 Q14573 VAR_046981 p.Leu1552Val LB/B rs9461899 - ITPR3 Q14573 VAR_046982 p.Arg1850Gln LB/B rs12528378 - ITPR3 Q14573 VAR_046983 p.Glu2398Gln LB/B rs2229641 - ITPR3 Q14573 VAR_046984 p.Leu2436Val LB/B rs2229642 - ITPR3 Q14573 VAR_049604 p.Leu374Trp LB/B rs2229646 - ITPR3 Q14573 VAR_087822 p.Val615Met LP/P - Charcot-Marie-Tooth disease, demyelinating, 1J (CMT1J) [MIM:620111] ITPR3 Q14573 VAR_087823 p.Thr1424Met US - Charcot-Marie-Tooth disease, demyelinating, 1J (CMT1J) [MIM:620111] ITPR3 Q14573 VAR_087824 p.Arg2524Cys LP/P - Charcot-Marie-Tooth disease, demyelinating, 1J (CMT1J) [MIM:620111] ITPRID1 Q6ZRS4 VAR_033660 p.Ala32Asp LB/B rs7811042 - ITPRID1 Q6ZRS4 VAR_033661 p.Ala490Val LB/B rs4141001 - ITPRID1 Q6ZRS4 VAR_033662 p.Cys809Tyr LB/B rs10247620 - ITPRID1 Q6ZRS4 VAR_033663 p.His887Tyr LB/B rs7799540 - ITPRID1 Q6ZRS4 VAR_035496 p.Leu105Val US - A colorectal cancer sample ITPRID1 Q6ZRS4 VAR_063505 p.His377Arg LB/B rs10252720 - ITPRID2 P28290 VAR_031186 p.Arg833Trp LB/B rs13419020 - ITPRID2 P28290 VAR_031187 p.Pro836Leu LB/B rs17647806 - ITPRID2 P28290 VAR_056998 p.Ala817Val LB/B rs16867510 - ITPRID2 P28290 VAR_059724 p.Tyr1258Asn LB/B rs2303554 - ITPRIPL1 Q6GPH6 VAR_039209 p.Gly280Arg LB/B rs17853311 - ITPRIPL1 Q6GPH6 VAR_039210 p.Ser428Cys LB/B rs35855657 - ITPRIPL1 Q6GPH6 VAR_039211 p.Thr463Met LB/B rs2279105 - ITPRIPL2 Q3MIP1 VAR_043549 p.Cys237Ser LB/B rs8051801 - ITPRIPL2 Q3MIP1 VAR_043550 p.Pro522Ser LB/B rs11074362 - ITSN1 Q15811 VAR_070011 p.Ser1137Asn LB/B rs187895245 - ITSN2 Q9NZM3 VAR_020193 p.Ile1287Thr LB/B rs3731625 - ITSN2 Q9NZM3 VAR_021937 p.Ala1534Thr LB/B rs2303291 - ITSN2 Q9NZM3 VAR_024287 p.Thr254Ala LB/B rs6744320 - ITSN2 Q9NZM3 VAR_024288 p.Val291Ile LB/B rs7603997 - IVD P26440 VAR_000423 p.Leu45Pro LP/P rs121434284 Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_000424 p.Gly202Val LP/P rs121434285 Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_015960 p.Arg53Pro LP/P rs2229311 Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_015961 p.Asp72Asn LP/P rs747273828 Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_015962 p.Ala314Val LP/P rs28940889 Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_015963 p.Cys360Arg LP/P rs760822119 Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_015964 p.Val374Ala LP/P rs754600862 Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_015965 p.Arg395Cys LP/P rs371427844 Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_015966 p.Arg414Leu LP/P - Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_070061 p.Ala97Gly LP/P - Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_070062 p.Gly123Arg LP/P rs142761835 Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_070063 p.Ile199Met LP/P - Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_070064 p.Leu279Pro LP/P - Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_070065 p.Tyr403Cys LP/P rs773560012 Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_079552 p.Gly250Ala US - Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_079553 p.Ala291Val US rs886042098 Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_079554 p.Ile379Thr US - Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_079555 p.Arg398Gln US rs1477527791 Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_079556 p.Tyr403Asn US - Isovaleric acidemia (IVA) [MIM:243500] IVL P07476 VAR_029019 p.Thr113Ala LB/B rs2229496 - IVL P07476 VAR_029020 p.Leu166Pro LB/B rs11205133 - IVL P07476 VAR_029021 p.Lys174Glu LB/B rs12035307 - IVL P07476 VAR_029022 p.Gln237Glu LB/B rs7520711 - IVL P07476 VAR_029023 p.Gln312Lys LB/B rs11205137 - IVL P07476 VAR_029024 p.Val480Leu LB/B rs7545520 - IVL P07476 VAR_058411 p.Glu227Gln LB/B rs11807064 - IVL P07476 VAR_058412 p.Pro236Ser LB/B rs17855670 - IWS1 Q96ST2 VAR_055975 p.Ala390Val LB/B rs34377117 - IWS1 Q96ST2 VAR_055976 p.Val425Ile LB/B rs34785867 - IYD Q6PHW0 VAR_025785 p.Leu260Pro LB/B rs17854906 - IYD Q6PHW0 VAR_045963 p.Arg101Trp LP/P rs121918138 Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800] IYD Q6PHW0 VAR_045965 p.Ile116Thr LP/P rs121918139 Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800] IYD Q6PHW0 VAR_045966 p.Glu271Lys LB/B rs36063028 - IZUMO1 Q8IYV9 VAR_055399 p.Ala333Val LB/B rs2307019 - IZUMO2 Q6UXV1 VAR_050912 p.Arg139Cys LB/B rs3745498 - IZUMO4 Q1ZYL8 VAR_030683 p.Ala2Thr LB/B rs17851210 - IZUMO4 Q1ZYL8 VAR_050911 p.Phe38Leu LB/B rs35585208 - IZUMO4 Q1ZYL8 VAR_061630 p.Tyr137Phe LB/B rs45506200 - JADE1 Q6IE81 VAR_053777 p.Asn662Ser LB/B rs6855813 - JADE2 Q9NQC1 VAR_053778 p.Arg581Gly LB/B rs34200923 - JAG1 P78504 VAR_013186 p.Leu37Ser LP/P rs121918352 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013187 p.Leu79His LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013188 p.Ala127Thr LP/P rs930247415 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013189 p.Pro129Arg LP/P rs1032920906 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013190 p.Ile152Thr LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013191 p.Pro163Leu LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013192 p.Arg184Cys LP/P rs121918350 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013193 p.Arg184Gly LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013194 p.Arg184His LP/P rs121918351 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013195 p.Arg184Leu LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013196 p.Cys187Ser LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013197 p.Cys220Phe LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013198 p.Cys229Gly LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013199 p.Cys229Tyr LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013200 p.Gly274Asp LP/P rs28939668 Tetralogy of Fallot (TOF) [MIM:187500] JAG1 P78504 VAR_013201 p.Cys284Phe LP/P rs1555829067 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013202 p.Trp288Cys LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013203 p.Gly386Arg LP/P rs863223650 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013204 p.Cys438Phe LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013205 p.Cys731Ser LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013206 p.Cys740Arg LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013207 p.Cys753Arg LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026297 p.Ala31Val LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026298 p.Gly33Asp LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026299 p.Gly33Ser LP/P rs876661123 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026300 p.Gly33Val LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026301 p.Ile39Ser LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026302 p.Leu40Pro LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026303 p.Val45Leu LB/B rs183974372 - JAG1 P78504 VAR_026304 p.Asn53Asp US - - JAG1 P78504 VAR_026305 p.Lys65Met US - - JAG1 P78504 VAR_026306 p.Phe75Ser LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026307 p.Cys78Ser LP/P rs1555830957 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026308 p.Cys92Arg LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026309 p.Cys92Tyr LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026310 p.Ile120Asn LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026311 p.Pro123Ser LP/P rs1282498658 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026312 p.Ala155Pro LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026313 p.Pro163Arg LP/P rs1555829676 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026314 p.Tyr181Asn LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026315 p.Cys187Tyr LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026316 p.Arg203Lys US - - JAG1 P78504 VAR_026317 p.Trp224Cys LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026318 p.Cys234Tyr LP/P rs121918353 Deafness, congenital heart defects, and posterior embryotoxon (DCHE) [MIM:617992] JAG1 P78504 VAR_026319 p.Arg252Gly LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026320 p.Gly256Ser LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026321 p.Pro269Leu LP/P rs797044956 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026322 p.Cys271Arg LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026323 p.Asn504Ser LP/P rs527236046 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026324 p.Tyr690Asp US - - JAG1 P78504 VAR_026325 p.Cys693Tyr LP/P rs566563238 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026326 p.Cys714Tyr LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026327 p.Arg818Lys LB/B - - JAG1 P78504 VAR_026328 p.Pro871Arg LB/B rs35761929 - JAG1 P78504 VAR_026329 p.Arg889Gln US rs149419694 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026330 p.Cys902Ser LP/P rs876661122 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026331 p.His908Gln US - - JAG1 P78504 VAR_026332 p.Cys911Tyr LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026333 p.Ser913Arg LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026334 p.Leu921Pro LB/B rs1305578649 - JAG1 P78504 VAR_026335 p.Arg937Gln LP/P rs145895196 Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026337 p.Arg1213Gln LB/B rs138007561 - JAG1 P78504 VAR_048985 p.Val146Ile LB/B rs6040067 - JAG1 P78504 VAR_071513 p.Cys436Trp LP/P - Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_080875 p.Cys664Ser US - - JAG1 P78504 VAR_080876 p.Pro810Leu LP/P rs769531968 Tetralogy of Fallot (TOF) [MIM:187500] JAG1 P78504 VAR_080877 p.His1104Gln US rs1250645531 - JAG1 P78504 VAR_086413 p.Ser577Arg LP/P - Charcot-Marie-Tooth disease, axonal, 2HH (CMT2HH) [MIM:619574] JAG1 P78504 VAR_086414 p.Ser650Pro LP/P - Charcot-Marie-Tooth disease, axonal, 2HH (CMT2HH) [MIM:619574] JAG2 Q9Y219 VAR_028113 p.Glu501Lys LB/B rs1057744 - JAG2 Q9Y219 VAR_048986 p.Asp538Asn LB/B rs9972231 - JAG2 Q9Y219 VAR_086389 p.Cys74Ser US - Muscular dystrophy, limb-girdle, autosomal recessive 27 (LGMDR27) [MIM:619566] JAG2 Q9Y219 VAR_086390 p.Thr95Ala US rs1555371784 Muscular dystrophy, limb-girdle, autosomal recessive 27 (LGMDR27) [MIM:619566] JAG2 Q9Y219 VAR_086391 p.Glu164Lys US - Muscular dystrophy, limb-girdle, autosomal recessive 27 (LGMDR27) [MIM:619566] JAG2 Q9Y219 VAR_086393 p.Ala243Asp US - Muscular dystrophy, limb-girdle, autosomal recessive 27 (LGMDR27) [MIM:619566] JAG2 Q9Y219 VAR_086394 p.Asn358Ile US - Muscular dystrophy, limb-girdle, autosomal recessive 27 (LGMDR27) [MIM:619566] JAG2 Q9Y219 VAR_086395 p.Pro682Ser US rs200708284 Muscular dystrophy, limb-girdle, autosomal recessive 27 (LGMDR27) [MIM:619566] JAG2 Q9Y219 VAR_086397 p.Arg712Cys US - Muscular dystrophy, limb-girdle, autosomal recessive 27 (LGMDR27) [MIM:619566] JAG2 Q9Y219 VAR_086398 p.Arg825Cys US rs1459726266 Muscular dystrophy, limb-girdle, autosomal recessive 27 (LGMDR27) [MIM:619566] JAG2 Q9Y219 VAR_086399 p.Gly839Arg LP/P rs781734780 Muscular dystrophy, limb-girdle, autosomal recessive 27 (LGMDR27) [MIM:619566] JAG2 Q9Y219 VAR_086400 p.Phe977Ser US - Muscular dystrophy, limb-girdle, autosomal recessive 27 (LGMDR27) [MIM:619566] JAGN1 Q8N5M9 VAR_071795 p.Gly14Ser LP/P rs786205704 Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022] JAGN1 Q8N5M9 VAR_071796 p.Arg20Gln LP/P rs777966677 Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022] JAGN1 Q8N5M9 VAR_071797 p.Glu21Asp LP/P rs587777729 Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022] JAGN1 Q8N5M9 VAR_071798 p.His44Tyr LP/P rs587777728 Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022] JAGN1 Q8N5M9 VAR_071799 p.Gln162Arg LP/P rs587777730 Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022] JAK1 P23458 VAR_041715 p.Asn973Lys LB/B rs34680086 - JAK1 P23458 VAR_084991 p.Ala634Asp LP/P - Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) [MIM:618999] JAK1 P23458 VAR_084992 p.Ser703Ile LP/P - Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) [MIM:618999] JAK2 O60674 VAR_032695 p.Lys539Leu LB/B rs121912473 - JAK2 O60674 VAR_032696 p.Lys607Asn LP/P rs121912472 Leukemia, acute myelogenous (AML) [MIM:601626] JAK2 O60674 VAR_032697 p.Val617Phe LP/P rs77375493 Leukemia, acute myelogenous (AML) [MIM:601626] JAK2 O60674 VAR_032697 p.Val617Phe LP/P rs77375493 Polycythemia vera (PV) [MIM:263300] JAK2 O60674 VAR_032697 p.Val617Phe LP/P rs77375493 Thrombocythemia 3 (THCYT3) [MIM:614521] JAK2 O60674 VAR_041716 p.Gly127Asp LB/B rs56118985 - JAK2 O60674 VAR_041717 p.Lys191Gln US - An ovarian serous carcinoma sample JAK2 O60674 VAR_041718 p.Lys346Arg LB/B rs55667734 - JAK2 O60674 VAR_041719 p.Ala377Glu LB/B rs55953208 - JAK2 O60674 VAR_041720 p.Leu393Val LB/B rs2230723 - JAK2 O60674 VAR_041721 p.Arg1063His LB/B rs41316003 - JAK2 O60674 VAR_043129 p.Asp584Glu LB/B rs17490221 - JAK2 O60674 VAR_067534 p.Val617Ile LP/P rs77375493 Thrombocythemia 3 (THCYT3) [MIM:614521] JAK3 P52333 VAR_006284 p.Tyr100Cys LP/P rs137852624 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] JAK3 P52333 VAR_010492 p.Pro151Arg LP/P rs55778349 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] JAK3 P52333 VAR_010493 p.Glu481Gly LP/P - Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] JAK3 P52333 VAR_010494 p.Arg582Trp LP/P rs193922361 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] JAK3 P52333 VAR_010496 p.Val722Ile LB/B rs3213409 - JAK3 P52333 VAR_010497 p.Cys759Arg LP/P - Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] JAK3 P52333 VAR_010498 p.Leu910Ser LP/P - Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] JAK3 P52333 VAR_019336 p.Pro132Thr LB/B rs3212723 - JAK3 P52333 VAR_019338 p.Asp169Glu LP/P rs147181709 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] JAK3 P52333 VAR_019339 p.Gly589Ser LP/P rs886039394 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] JAK3 P52333 VAR_041722 p.Pro12Leu LB/B rs56061056 - JAK3 P52333 VAR_041723 p.Arg40His LB/B rs56384680 - JAK3 P52333 VAR_041724 p.Leu521Val LB/B rs55666418 - JAK3 P52333 VAR_041725 p.Leu527Pro US - A gastric adenocarcinoma sample JAK3 P52333 VAR_041726 p.Ile688Phe LB/B rs35785705 - JAKMIP1 Q96N16 VAR_039471 p.Lys251Arg LB/B rs772311401 - JAKMIP1 Q96N16 VAR_039472 p.Ala375Val US rs199693515 A colorectal cancer sample JAKMIP2 Q96AA8 VAR_022059 p.Val106Ile LB/B rs3749736 - JAKMIP2 Q96AA8 VAR_035930 p.Arg315Cys US rs761359853 A colorectal cancer sample JAKMIP3 Q5VZ66 VAR_039473 p.Arg795Gly US - A breast cancer sample JAKMIP3 Q5VZ66 VAR_054016 p.Met493Val LB/B rs11592585 - JAM2 P57087 VAR_049973 p.Ser286Arg LB/B rs9976382 - JAM2 P57087 VAR_083944 p.Arg108His LP/P rs1383641309 Basal ganglia calcification, idiopathic, 8, autosomal recessive (IBGC8) [MIM:618824] JAM2 P57087 VAR_083945 p.Trp168Cys LP/P rs1230941179 Basal ganglia calcification, idiopathic, 8, autosomal recessive (IBGC8) [MIM:618824] JAM3 Q9BX67 VAR_069529 p.Glu116Lys LP/P rs397515439 Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC) [MIM:613730] JAM3 Q9BX67 VAR_069530 p.Cys219Tyr LP/P rs397515438 Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC) [MIM:613730] JAML Q86YT9 VAR_049974 p.Ile94Asn LB/B rs17121881 - JAML Q86YT9 VAR_049975 p.Val193Ala LB/B rs1793174 - JAML Q86YT9 VAR_049976 p.Ile322Met LB/B rs2298831 - JARID2 Q92833 VAR_087870 p.Glu644Lys US - Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF) [MIM:620098] JARID2 Q92833 VAR_087871 p.Arg788Gln US rs879661038 Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF) [MIM:620098] JCAD Q9P266 VAR_037867 p.Glu487Asp LB/B rs7917573 - JCAD Q9P266 VAR_037868 p.Asp494Asn LB/B rs7917566 - JCAD Q9P266 VAR_037869 p.Glu729Ala LB/B rs7901855 - JCAD Q9P266 VAR_037870 p.Arg957Gly LB/B rs2185724 - JCAD Q9P266 VAR_037871 p.Ser1002Thr LB/B rs3739998 - JCAD Q9P266 VAR_037872 p.Ala1095Gly LB/B rs12240677 - JDP2 Q8WYK2 VAR_042738 p.Thr13Ala LB/B rs3625 - JHY Q6NUN7 VAR_050863 p.His486Arg LB/B rs33999612 - JMJD1C Q15652 VAR_049654 p.Ala272Thr LB/B rs34798625 - JMJD1C Q15652 VAR_049655 p.Glu394Asp LB/B rs35380596 - JMJD1C Q15652 VAR_049656 p.Ser464Thr LB/B rs10761725 - JMJD1C Q15652 VAR_049657 p.Asn1393Tyr LB/B rs9703886 - JMJD1C Q15652 VAR_049658 p.Asp2400Glu LB/B rs34491125 - JMJD1C Q15652 VAR_049659 p.Glu2535Asp LB/B rs1935 - JMJD1C Q15652 VAR_061277 p.Met591Val LB/B rs41274072 - JMJD4 Q9H9V9 VAR_032900 p.Asp19Glu LB/B rs2295994 - JMJD4 Q9H9V9 VAR_032901 p.Ala415Val LB/B rs3087908 - JMJD7 P0C870 VAR_027046 p.Ala28Gly LB/B rs7174710 - JMJD7 P0C870 VAR_069392 p.Met160Val LB/B - - JMY Q8N9B5 VAR_039846 p.Met364Leu LB/B rs13182512 - JMY Q8N9B5 VAR_039847 p.Ala592Val LB/B rs12109475 - JMY Q8N9B5 VAR_039848 p.His720Arg LB/B rs16876657 - JOSD1 Q15040 VAR_050031 p.Ser48Arg LB/B rs6001200 - JPH1 Q9HDC5 VAR_053445 p.Thr507Met LB/B rs16938829 - JPH1 Q9HDC5 VAR_053446 p.Asp624His LB/B rs16938828 - JPH2 Q9BR39 VAR_053447 p.Ala396Thr LB/B rs3810510 - JPH2 Q9BR39 VAR_065471 p.Ser101Arg LP/P rs1600482909 Cardiomyopathy, familial hypertrophic, 17 (CMH17) [MIM:613873] JPH2 Q9BR39 VAR_065472 p.Tyr141His LP/P rs387906897 Cardiomyopathy, familial hypertrophic, 17 (CMH17) [MIM:613873] JPH2 Q9BR39 VAR_065473 p.Ser165Phe LP/P rs387906898 Cardiomyopathy, familial hypertrophic, 17 (CMH17) [MIM:613873] JPH2 Q9BR39 VAR_065474 p.Arg436Cys LB/B rs1326977511 - JPH2 Q9BR39 VAR_065475 p.Gly505Ser LB/B rs140740776 - JPH2 Q9BR39 VAR_081287 p.Glu85Lys US - - JPH2 Q9BR39 VAR_081288 p.Thr161Lys LP/P rs587782951 Cardiomyopathy, familial hypertrophic, 17 (CMH17) [MIM:613873] JPH2 Q9BR39 VAR_081289 p.Glu169Lys US - - JPH2 Q9BR39 VAR_081290 p.Ala405Ser US rs557878787 Cardiomyopathy, familial hypertrophic, 17 (CMH17) [MIM:613873] JPH3 Q8WXH2 VAR_032494 p.Ile376Thr LB/B rs17857118 - JPH3 Q8WXH2 VAR_032495 p.Pro472Thr LB/B rs17853660 - JPH3 Q8WXH2 VAR_032496 p.Pro645Leu LB/B rs17853661 - JSRP1 Q96MG2 VAR_037838 p.Val92Ala LB/B rs10426549 - JSRP1 Q96MG2 VAR_037839 p.Arg233Gln LB/B rs35356610 - JSRP1 Q96MG2 VAR_069019 p.Pro108Leu LB/B rs74521370 - JSRP1 Q96MG2 VAR_069020 p.Gly150Ala LB/B rs80043033 - JTB O76095 VAR_033994 p.Leu16Phe LB/B rs34686244 - JUN P05412 VAR_012070 p.Thr297Met LB/B rs9989 - JUNB P17275 VAR_021081 p.Leu230Val LB/B rs17880705 - JUND P17535 VAR_055247 p.Gly20Val LB/B rs41478151 - JUP P14923 VAR_037804 p.Met697Leu LB/B rs1126821 - JUP P14923 VAR_065698 p.Thr19Ile US rs570878629 Arrhythmogenic right ventricular dysplasia, familial, 12 (ARVD12) [MIM:611528] JUP P14923 VAR_065699 p.Arg142His LB/B rs41283425 - JUP P14923 VAR_065700 p.Val648Ile LB/B rs143043662 - KALRN O60229 VAR_020192 p.Glu1326Asp LB/B rs2289838 - KALRN O60229 VAR_035625 p.Ser1897Cys US - A breast cancer sample KALRN O60229 VAR_035976 p.Arg213Trp US rs1187034389 A colorectal cancer sample KALRN O60229 VAR_041898 p.Ser196Leu LB/B - - KALRN O60229 VAR_057190 p.Arg1930Met LB/B rs35298864 - KANK1 Q14678 VAR_016697 p.Ser464Ala LB/B rs912174 - KANK1 Q14678 VAR_026212 p.Asn206Lys LB/B rs17857145 - KANK1 Q14678 VAR_026213 p.Glu432Gln LB/B rs4465020 - KANK1 Q14678 VAR_048298 p.His210Gln LB/B rs28374506 - KANK1 Q14678 VAR_048299 p.Lys321Arg LB/B rs17857159 - KANK1 Q14678 VAR_048300 p.Ala664Val LB/B rs3824421 - KANK1 Q14678 VAR_048301 p.Arg667His LB/B rs3824420 - KANK1 Q14678 VAR_048302 p.Asn901Ser LB/B rs12352313 - KANK1 Q14678 VAR_048303 p.Ile1055Thr LB/B rs34832656 - KANK1 Q14678 VAR_080958 p.Glu454Lys US rs1554698949 - KANK2 Q63ZY3 VAR_048304 p.Gly118Ser LB/B rs755237 - KANK2 Q63ZY3 VAR_048305 p.Met401Thr LB/B rs17616661 - KANK2 Q63ZY3 VAR_072431 p.Ala670Val LP/P rs606231303 Palmoplantar keratoderma and woolly hair (PPKWH) [MIM:616099] KANK2 Q63ZY3 VAR_080959 p.Ser181Gly LP/P rs1555820663 Nephrotic syndrome 16 (NPHS16) [MIM:617783] KANK2 Q63ZY3 VAR_080960 p.Ser676Phe LP/P rs1555816634 Nephrotic syndrome 16 (NPHS16) [MIM:617783] KANK3 Q6NY19 VAR_026909 p.Asp288Tyr LB/B rs890850 - KANK3 Q6NY19 VAR_026910 p.Arg359His LB/B rs890853 - KANK3 Q6NY19 VAR_026911 p.Ala485Thr LB/B rs2913955 - KANK4 Q5T7N3 VAR_026902 p.His822Arg LB/B rs2258470 - KANK4 Q5T7N3 VAR_026903 p.Val840Ala LB/B rs2666472 - KANK4 Q5T7N3 VAR_026904 p.Val935Leu LB/B rs2941679 - KANK4 Q5T7N3 VAR_048306 p.Gly701Ser LB/B rs17123306 - KANK4 Q5T7N3 VAR_048307 p.Thr768Ala LB/B rs11207949 - KANK4 Q5T7N3 VAR_048308 p.Ala987Val LB/B rs34591898 - KANK4 Q5T7N3 VAR_080961 p.Tyr801His US rs145623004 - KANSL1 Q7Z3B3 VAR_026287 p.Pro1010Leu LB/B rs7220988 - KANSL1 Q7Z3B3 VAR_049515 p.Lys104Thr LB/B rs17585974 - KANSL1 Q7Z3B3 VAR_049516 p.Thr221Ile LB/B rs17662853 - KANSL1 Q7Z3B3 VAR_049517 p.Asn225Asp LB/B rs35643216 - KANSL1 Q7Z3B3 VAR_049518 p.Ser718Pro LB/B rs34043286 - KANSL1 Q7Z3B3 VAR_049519 p.Ile1085Thr LB/B rs34579536 - KANSL2 Q9H9L4 VAR_030767 p.Asn313Ser LB/B rs17238800 - KANSL2 Q9H9L4 VAR_030768 p.Pro445Thr LB/B rs3741628 - KANSL3 Q9P2N6 VAR_032268 p.Val707Ile LB/B rs34406082 - KARS1 Q15046 VAR_016105 p.Thr595Ser LB/B rs6834 - KARS1 Q15046 VAR_052640 p.Gly179Ala LB/B rs11557665 - KARS1 Q15046 VAR_064911 p.Leu105His LP/P rs267607194 Charcot-Marie-Tooth disease, recessive intermediate B (CMTRIB) [MIM:613641] KARS1 Q15046 VAR_064912 p.Ile274Met LP/P rs146955132 Charcot-Marie-Tooth disease, recessive intermediate B (CMTRIB) [MIM:613641] KARS1 Q15046 VAR_070233 p.Tyr145His LP/P rs397514745 Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916] KARS1 Q15046 VAR_070234 p.Asp349Asn LP/P rs397514746 Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916] KARS1 Q15046 VAR_079741 p.Leu350His US - - KARS1 Q15046 VAR_079742 p.Pro390Arg US - - KARS1 Q15046 VAR_079743 p.Arg438Trp US rs761527468 Leukoencephalopathy, progressive, infantile-onset, with or without deafness (LEPID) [MIM:619147] KARS1 Q15046 VAR_079744 p.Arg477His LP/P rs778748895 Deafness, congenital, and adult-onset progressive leukoencephalopathy (DEAPLE) [MIM:619196] KARS1 Q15046 VAR_079744 p.Arg477His LP/P rs778748895 Leukoencephalopathy, progressive, infantile-onset, with or without deafness (LEPID) [MIM:619147] KARS1 Q15046 VAR_079745 p.Pro505Ser LP/P rs1555512658 Deafness, congenital, and adult-onset progressive leukoencephalopathy (DEAPLE) [MIM:619196] KARS1 Q15046 VAR_079746 p.Glu525Lys US rs770522582 Leukoencephalopathy, progressive, infantile-onset, with or without deafness (LEPID) [MIM:619147] KARS1 Q15046 VAR_085386 p.Arg80His US rs369114426 Deafness, congenital, and adult-onset progressive leukoencephalopathy (DEAPLE) [MIM:619196] KARS1 Q15046 VAR_085387 p.Gly189Asp LP/P - Leukoencephalopathy, progressive, infantile-onset, with or without deafness (LEPID) [MIM:619147] KARS1 Q15046 VAR_085388 p.Pro200Leu LP/P - Deafness, congenital, and adult-onset progressive leukoencephalopathy (DEAPLE) [MIM:619196] KARS1 Q15046 VAR_085388 p.Pro200Leu LP/P - Leukoencephalopathy, progressive, infantile-onset, with or without deafness (LEPID) [MIM:619147] KARS1 Q15046 VAR_085389 p.Phe263Val LP/P rs772410450 Deafness, congenital, and adult-onset progressive leukoencephalopathy (DEAPLE) [MIM:619196] KARS1 Q15046 VAR_085390 p.Val448Phe US - Deafness, congenital, and adult-onset progressive leukoencephalopathy (DEAPLE) [MIM:619196] KARS1 Q15046 VAR_085391 p.Leu568Phe LP/P - Leukoencephalopathy, progressive, infantile-onset, with or without deafness (LEPID) [MIM:619147] KASH5 Q8N6L0 VAR_059597 p.Leu116Pro LB/B rs8102582 - KASH5 Q8N6L0 VAR_059598 p.Arg129Gln LB/B rs10405154 - KAT14 Q9H8E8 VAR_020466 p.Arg442Thr LB/B rs2295182 - KAT14 Q9H8E8 VAR_028034 p.Pro214Leu LB/B rs6081011 - KAT14 Q9H8E8 VAR_028035 p.Val400Gly LB/B rs1205193 - KAT14 Q9H8E8 VAR_033839 p.Pro600Arg LB/B rs11557577 - KAT14 Q9H8E8 VAR_048166 p.Ala738Ser LB/B rs6081027 - KAT2B Q92831 VAR_034372 p.Asn386Ser LB/B rs17006625 - KAT2B Q92831 VAR_079852 p.Val130Gly US - - KAT5 Q92993 VAR_059456 p.Pro78Thr LB/B rs11541271 - KAT5 Q92993 VAR_085192 p.Arg53His LP/P rs1857071943 Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB) [MIM:619103] KAT5 Q92993 VAR_085193 p.Cys369Ser LP/P rs1857215256 Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB) [MIM:619103] KAT5 Q92993 VAR_085194 p.Ser413Ala LP/P rs1857290083 Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB) [MIM:619103] KAT6A Q92794 VAR_047548 p.Leu134Ser LB/B rs3824276 - KAT6B Q8WYB5 VAR_036361 p.Thr483Ala US - A breast cancer sample KAT6B Q8WYB5 VAR_050217 p.Val1499Ile LB/B rs3740321 - KAT6B Q8WYB5 VAR_061367 p.Ala1217Ser LB/B rs57372986 - KAT6B Q8WYB5 VAR_067315 p.Glu360Lys LB/B - - KAT8 Q9H7Z6 VAR_084751 p.Tyr90Cys LP/P - Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) [MIM:618974] KAT8 Q9H7Z6 VAR_084752 p.Arg98Gln LP/P - Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) [MIM:618974] KAT8 Q9H7Z6 VAR_084753 p.Arg99Gln LP/P - Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) [MIM:618974] KAT8 Q9H7Z6 VAR_084754 p.Ala165Val US - Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) [MIM:618974] KAT8 Q9H7Z6 VAR_084756 p.Lys175Glu LP/P - Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) [MIM:618974] KAT8 Q9H7Z6 VAR_084757 p.Lys181Asn US - Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) [MIM:618974] KAT8 Q9H7Z6 VAR_084758 p.Arg325Cys US - - KATNAL2 Q8IYT4 VAR_043160 p.Ser160Asn LB/B rs7233515 - KATNB1 Q9BVA0 VAR_062099 p.Met181Val LB/B rs60158050 - KATNB1 Q9BVA0 VAR_073319 p.Gly33Trp LP/P rs730880259 Lissencephaly 6, with microcephaly (LIS6) [MIM:616212] KATNB1 Q9BVA0 VAR_073320 p.Ser535Leu LP/P rs730880257 Lissencephaly 6, with microcephaly (LIS6) [MIM:616212] KATNB1 Q9BVA0 VAR_073321 p.Leu540Arg LP/P rs730880258 Lissencephaly 6, with microcephaly (LIS6) [MIM:616212] KATNIP O60303 VAR_037654 p.Thr522Met LB/B rs12930355 - KATNIP O60303 VAR_037655 p.Ala535Ser LB/B rs11643103 - KATNIP O60303 VAR_037656 p.Arg885Gln LB/B rs16976970 - KATNIP O60303 VAR_037657 p.Ala1267Thr LB/B rs4787984 - KATNIP O60303 VAR_037658 p.Arg1368Gln LB/B rs11644502 - KATNIP O60303 VAR_037659 p.Val1597Ile LB/B rs2287790 - KATNIP O60303 VAR_061238 p.Ala1240Val LB/B rs55953014 - KAZALD1 Q96I82 VAR_022739 p.Cys76Gly LB/B rs11547671 - KAZALD1 Q96I82 VAR_033628 p.Gly236Asp LB/B rs11190812 - KAZALD1 Q96I82 VAR_033629 p.Gly255Ala LB/B rs807037 - KAZALD1 Q96I82 VAR_049977 p.Arg256His LB/B rs36116329 - KAZN Q674X7 VAR_060168 p.Ala706Thr LB/B rs10803354 - KAZN Q674X7 VAR_060169 p.Arg763Cys LB/B rs12048768 - KBTBD12 Q3ZCT8 VAR_050055 p.Gln22Lys LB/B rs4141499 - KBTBD13 C9JR72 VAR_064889 p.Arg248Ser LP/P rs200549195 Nemaline myopathy 6 (NEM6) [MIM:609273] KBTBD13 C9JR72 VAR_064890 p.Lys390Asn LP/P rs1364598710 Nemaline myopathy 6 (NEM6) [MIM:609273] KBTBD13 C9JR72 VAR_064891 p.Arg408Cys LP/P rs387907090 Nemaline myopathy 6 (NEM6) [MIM:609273] KBTBD2 Q8IY47 VAR_037766 p.Gln166Lys LB/B rs17853781 - KBTBD2 Q8IY47 VAR_037767 p.Glu189Gly LB/B rs17854425 - KBTBD2 Q8IY47 VAR_037768 p.Thr193Pro LB/B rs35477666 - KBTBD2 Q8IY47 VAR_037769 p.Pro254Arg LB/B rs17857323 - KBTBD2 Q8IY47 VAR_037770 p.Pro301Arg LB/B rs17857324 - KBTBD2 Q8IY47 VAR_037771 p.Leu534Ile LB/B rs17854424 - KBTBD2 Q8IY47 VAR_037772 p.Ser594Tyr LB/B rs17853783 - KBTBD3 Q8NAB2 VAR_056124 p.Met193Val LB/B rs35762821 - KBTBD4 Q9NVX7 VAR_028046 p.Asp330Asn LB/B rs11039302 - KBTBD8 Q8NFY9 VAR_030694 p.Cys420Arg LB/B rs13096789 - KBTBD8 Q8NFY9 VAR_036082 p.Ser198Cys US - A breast cancer sample KBTBD8 Q8NFY9 VAR_036083 p.Arg405Lys US - A breast cancer sample KCNA1 Q09470 VAR_001508 p.Val174Phe LP/P rs104894349 Episodic ataxia 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_001509 p.Ile177Arg LP/P - Episodic ataxia 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_001510 p.Thr226Ala LP/P rs104894354 Episodic ataxia 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_001511 p.Arg239Ser LP/P rs104894348 Episodic ataxia 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_001512 p.Phe249Ile LP/P rs104894356 Episodic ataxia 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_001513 p.Val404Ile LP/P rs104894355 Episodic ataxia 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_001514 p.Val408Ala LP/P rs104894352 Episodic ataxia 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_016805 p.Ile400Val US - - KCNA1 Q09470 VAR_020051 p.Arg204His LB/B rs2229000 - KCNA1 Q09470 VAR_020830 p.Phe184Cys LP/P rs104894357 Episodic ataxia 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_020831 p.Thr226Met LP/P rs28933383 Episodic ataxia 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_020832 p.Glu325Asp LP/P rs104894353 Episodic ataxia 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_020833 p.Leu329Ile LP/P - Episodic ataxia 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_020834 p.Ser342Ile LP/P - Episodic ataxia 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_037100 p.Thr226Lys LP/P rs28933383 Myokymia isolated 1 (MK1) [MIM:160120] KCNA1 Q09470 VAR_037101 p.Thr226Arg LP/P rs28933383 Episodic ataxia 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_037102 p.Ala242Pro LP/P rs28933381 Myokymia isolated 1 (MK1) [MIM:160120] KCNA1 Q09470 VAR_037103 p.Pro244His LP/P rs28933382 Myokymia isolated 1 (MK1) [MIM:160120] KCNA1 Q09470 VAR_072397 p.Asn255Asp LP/P rs121918067 Myokymia isolated 1 (MK1) [MIM:160120] KCNA1 Q09470 VAR_078205 p.Pro405Leu LB/B rs1555085798 - KCNA10 Q16322 VAR_036778 p.Arg200His US rs755748044 A colorectal cancer sample KCNA10 Q16322 VAR_036779 p.Val220Met LB/B rs34970857 - KCNA10 Q16322 VAR_036780 p.Ser258Asn LB/B rs3748729 - KCNA2 P16389 VAR_073704 p.Ile263Thr LP/P rs786205231 Developmental and epileptic encephalopathy 32 (DEE32) [MIM:616366] KCNA2 P16389 VAR_073705 p.Arg297Gln LP/P rs786205232 Developmental and epileptic encephalopathy 32 (DEE32) [MIM:616366] KCNA2 P16389 VAR_073706 p.Leu298Phe LP/P rs876657390 Developmental and epileptic encephalopathy 32 (DEE32) [MIM:616366] KCNA2 P16389 VAR_073707 p.Pro405Leu LP/P rs876657389 Developmental and epileptic encephalopathy 32 (DEE32) [MIM:616366] KCNA2 P16389 VAR_078206 p.Ser324Thr US - - KCNA2 P16389 VAR_085682 p.Glu236Lys LP/P - Developmental and epileptic encephalopathy 32 (DEE32) [MIM:616366] KCNA4 P22459 VAR_081837 p.Arg89Gln US rs779101828 Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum (MCIDDS) [MIM:618284] KCNA5 P22460 VAR_035770 p.Gly300Ser US rs148708451 A breast cancer sample KCNA5 P22460 VAR_053856 p.Pro228Ser LB/B rs1056464 - KCNA5 P22460 VAR_054786 p.Arg578Lys LB/B rs12720445 - KCNA5 P22460 VAR_079602 p.Leu42His US - - KCNA5 P22460 VAR_079603 p.Leu85Met LB/B - - KCNA5 P22460 VAR_079604 p.Thr114Pro US - - KCNA5 P22460 VAR_079605 p.Pro170Arg US - - KCNA5 P22460 VAR_079606 p.Arg184Pro US - - KCNA6 P17658 VAR_087560 p.Asp261Glu US - - KCNA6 P17658 VAR_087561 p.Val447Phe US - - KCNA6 P17658 VAR_087562 p.Thr449Ile US - - KCNA6 P17658 VAR_087563 p.Val456Leu US - - KCNA7 Q96RP8 VAR_036776 p.Pro189Arg LB/B rs1611775 - KCNA7 Q96RP8 VAR_036777 p.Met418Thr LB/B rs1017219 - KCNB1 Q14721 VAR_034049 p.Pro825Ser LB/B rs34467662 - KCNB1 Q14721 VAR_062182 p.Thr616Asn LB/B rs2229006 - KCNB1 Q14721 VAR_062183 p.Thr616Ser LB/B rs2229006 - KCNB1 Q14721 VAR_062184 p.Ser857Asn LB/B rs34280195 - KCNB1 Q14721 VAR_071991 p.Ser347Arg LP/P rs587777848 Developmental and epileptic encephalopathy 26 (DEE26) [MIM:616056] KCNB1 Q14721 VAR_071992 p.Thr374Ile LP/P rs587777849 Developmental and epileptic encephalopathy 26 (DEE26) [MIM:616056] KCNB1 Q14721 VAR_071993 p.Gly379Arg LP/P rs587777850 Developmental and epileptic encephalopathy 26 (DEE26) [MIM:616056] KCNB1 Q14721 VAR_075573 p.Arg306Cys LP/P rs1555889130 Developmental and epileptic encephalopathy 26 (DEE26) [MIM:616056] KCNB1 Q14721 VAR_075574 p.Val378Ala LP/P - Developmental and epileptic encephalopathy 26 (DEE26) [MIM:616056] KCNB1 Q14721 VAR_075575 p.Gly401Arg LP/P - Developmental and epileptic encephalopathy 26 (DEE26) [MIM:616056] KCNB2 Q92953 VAR_034050 p.Glu657Gly LB/B rs16938507 - KCNB2 Q92953 VAR_035774 p.Val450Ile US rs770305852 A colorectal cancer sample KCNC1 P48547 VAR_072705 p.Arg320His LP/P rs727502818 Epilepsy, progressive myoclonic 7 (EPM7) [MIM:616187] KCNC2 Q96PR1 VAR_087366 p.Cys125Trp LP/P - Developmental and epileptic encephalopathy 103 (DEE103) [MIM:619913] KCNC2 Q96PR1 VAR_087367 p.Glu135Gly LP/P - Developmental and epileptic encephalopathy 103 (DEE103) [MIM:619913] KCNC2 Q96PR1 VAR_087368 p.Asp167Tyr LP/P - Developmental and epileptic encephalopathy 103 (DEE103) [MIM:619913] KCNC2 Q96PR1 VAR_087369 p.Phe219Ser US - - KCNC2 Q96PR1 VAR_087370 p.Arg351Lys LP/P - Developmental and epileptic encephalopathy 103 (DEE103) [MIM:619913] KCNC2 Q96PR1 VAR_087371 p.Phe382Cys US - - KCNC2 Q96PR1 VAR_087372 p.Arg405Gly LP/P - Developmental and epileptic encephalopathy 103 (DEE103) [MIM:619913] KCNC2 Q96PR1 VAR_087373 p.Thr437Ala LP/P - Developmental and epileptic encephalopathy 103 (DEE103) [MIM:619913] KCNC2 Q96PR1 VAR_087374 p.Val471Leu LP/P - Developmental and epileptic encephalopathy 103 (DEE103) [MIM:619913] KCNC3 Q14003 VAR_029530 p.Arg420His LP/P rs104894699 Spinocerebellar ataxia 13 (SCA13) [MIM:605259] KCNC3 Q14003 VAR_029531 p.Phe448Leu LP/P rs104894700 Spinocerebellar ataxia 13 (SCA13) [MIM:605259] KCNC3 Q14003 VAR_074192 p.Gln41His LB/B rs185017345 - KCNC3 Q14003 VAR_074193 p.Asp63Gly LB/B rs375912738 - KCNC3 Q14003 VAR_074194 p.Asp129Asn US - Spinocerebellar ataxia 13 (SCA13) [MIM:605259] KCNC3 Q14003 VAR_074195 p.Gly263Asp US - - KCNC3 Q14003 VAR_074196 p.Arg366His US rs769502387 Spinocerebellar ataxia 13 (SCA13) [MIM:605259] KCNC3 Q14003 VAR_074197 p.Arg423His LP/P rs797044872 Spinocerebellar ataxia 13 (SCA13) [MIM:605259] KCNC3 Q14003 VAR_074198 p.Asp477Asn US rs148033381 Spinocerebellar ataxia 13 (SCA13) [MIM:605259] KCNC3 Q14003 VAR_074199 p.Val535Met LP/P - Spinocerebellar ataxia 13 (SCA13) [MIM:605259] KCNC3 Q14003 VAR_074200 p.Ser591Gly US rs549394447 Spinocerebellar ataxia 13 (SCA13) [MIM:605259] KCNC3 Q14003 VAR_074201 p.Gly643Ser US rs778523009 Spinocerebellar ataxia 13 (SCA13) [MIM:605259] KCNC3 Q14003 VAR_074202 p.Pro645Arg US rs1460306526 Spinocerebellar ataxia 13 (SCA13) [MIM:605259] KCNC3 Q14003 VAR_074203 p.Asp746Asn US rs958323371 Spinocerebellar ataxia 13 (SCA13) [MIM:605259] KCNC4 Q03721 VAR_027505 p.Cys520Tyr LB/B rs12411176 - KCNC4 Q03721 VAR_034051 p.Asp318Tyr LB/B rs35167146 - KCNC4 Q03721 VAR_062185 p.Arg516Gln LB/B rs59123361 - KCND2 Q9NZV8 VAR_072076 p.Val404Met LB/B rs587777631 - KCND3 Q9UK17 VAR_035775 p.Val94Met US rs1349469134 A colorectal cancer sample KCND3 Q9UK17 VAR_067694 p.Val392Ile US rs786205867 Brugada syndrome 9 (BRGDA9) [MIM:616399] KCND3 Q9UK17 VAR_067695 p.Ser530Arg US - Brugada syndrome 9 (BRGDA9) [MIM:616399] KCND3 Q9UK17 VAR_067696 p.Gly600Arg US rs149344567 Brugada syndrome 9 (BRGDA9) [MIM:616399] KCND3 Q9UK17 VAR_070786 p.Val338Glu LP/P - Spinocerebellar ataxia 19 (SCA19) [MIM:607346] KCND3 Q9UK17 VAR_070787 p.Gly345Val LP/P rs797045634 Spinocerebellar ataxia 19 (SCA19) [MIM:607346] KCND3 Q9UK17 VAR_070788 p.Thr352Pro LP/P rs397515476 Spinocerebellar ataxia 19 (SCA19) [MIM:607346] KCND3 Q9UK17 VAR_070789 p.Met373Ile US rs397515477 Spinocerebellar ataxia 19 (SCA19) [MIM:607346] KCND3 Q9UK17 VAR_070790 p.Thr377Met LP/P - Spinocerebellar ataxia 19 (SCA19) [MIM:607346] KCND3 Q9UK17 VAR_070791 p.Ser390Asn US rs397515478 Spinocerebellar ataxia 19 (SCA19) [MIM:607346] KCND3 Q9UK17 VAR_073831 p.Leu450Phe US rs150401343 Brugada syndrome 9 (BRGDA9) [MIM:616399] KCND3 Q9UK17 VAR_079709 p.Gly384Ser LP/P - Spinocerebellar ataxia 19 (SCA19) [MIM:607346] KCNE1 P15382 VAR_001558 p.Ser38Gly LB/B rs1805127 - KCNE1 P15382 VAR_008897 p.Thr7Ile LP/P rs28933384 Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347] KCNE1 P15382 VAR_008898 p.Val47Phe LP/P rs199473353 Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347] KCNE1 P15382 VAR_008899 p.Leu51His LP/P - Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347] KCNE1 P15382 VAR_008900 p.Ser74Leu LP/P rs74315446 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_008901 p.Asp76Asn LP/P rs74315445 Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347] KCNE1 P15382 VAR_008901 p.Asp76Asn LP/P rs74315445 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_008902 p.Asp85Asn LB/B rs1805128 - KCNE1 P15382 VAR_008903 p.Trp87Arg LP/P rs199473361 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_009906 p.Arg32His US rs17857111 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_009907 p.Arg98Trp LP/P rs199473362 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_009908 p.Pro127Thr LP/P rs199473647 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_012802 p.Val109Ile US rs77442996 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_048024 p.Gly52Ala LB/B rs17173509 - KCNE1 P15382 VAR_074908 p.Ala8Val US rs199473348 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_074909 p.Thr10Met US rs144917638 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_074910 p.Ser28Leu US rs199473350 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_074911 p.Arg36His US rs199473351 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_074912 p.Phe53Ser US rs199473355 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_074913 p.Gly55Ser US rs199473644 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_074914 p.Thr58Pro US rs147187721 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_074915 p.Leu59Pro US rs141813529 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_074916 p.Arg67Cys US rs199473645 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_074917 p.Arg67His US rs79654911 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_074918 p.Lys70Met US rs199473646 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_074919 p.Glu83Lys US rs199473360 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_074920 p.Thr125Met US rs142511345 Long QT syndrome 5 (LQT5) [MIM:613695] KCNE2 Q9Y6J6 VAR_008375 p.Thr8Ala LB/B rs2234916 - KCNE2 Q9Y6J6 VAR_008376 p.Gln9Glu LB/B rs16991652 - KCNE2 Q9Y6J6 VAR_008377 p.Met54Thr LP/P rs74315447 Long QT syndrome 6 (LQT6) [MIM:613693] KCNE2 Q9Y6J6 VAR_008378 p.Ile57Thr LP/P rs74315448 Long QT syndrome 6 (LQT6) [MIM:613693] KCNE2 Q9Y6J6 VAR_015063 p.Val65Met LP/P rs199473364 Long QT syndrome 6 (LQT6) [MIM:613693] KCNE2 Q9Y6J6 VAR_022052 p.Ala66Val LB/B rs16991656 - KCNE2 Q9Y6J6 VAR_029334 p.Phe60Leu US rs16991654 Long QT syndrome 6 (LQT6) [MIM:613693] KCNE2 Q9Y6J6 VAR_035386 p.Arg77Trp LP/P rs141423405 Long QT syndrome 6 (LQT6) [MIM:613693] KCNE2 Q9Y6J6 VAR_037794 p.Thr8Ile LB/B rs35759083 - KCNE2 Q9Y6J6 VAR_037795 p.Arg27Cys LP/P rs74315449 Atrial fibrillation, familial, 4 (ATFB4) [MIM:611493] KCNE2 Q9Y6J6 VAR_074921 p.Val14Ile US rs142153692 Long QT syndrome 6 (LQT6) [MIM:613693] KCNE2 Q9Y6J6 VAR_074922 p.Ile20Asn US rs199473363 Long QT syndrome 6 (LQT6) [MIM:613693] KCNE2 Q9Y6J6 VAR_074923 p.Arg27His US rs148968498 Long QT syndrome 6 (LQT6) [MIM:613693] KCNE2 Q9Y6J6 VAR_074924 p.Val65Leu US rs199473364 Long QT syndrome 6 (LQT6) [MIM:613693] KCNE2 Q9Y6J6 VAR_074925 p.Arg77Gln US rs199473365 Long QT syndrome 6 (LQT6) [MIM:613693] KCNE2 Q9Y6J6 VAR_074926 p.Glu94Gly US rs74424227 Long QT syndrome 6 (LQT6) [MIM:613693] KCNE3 Q9Y6H6 VAR_015064 p.Arg83His US rs17215437 - KCNE3 Q9Y6H6 VAR_058635 p.Thr4Ala LB/B rs200856070 - KCNE3 Q9Y6H6 VAR_058636 p.Pro39Arg LB/B rs34604640 - KCNE3 Q9Y6H6 VAR_058637 p.Arg99His US rs121908441 Brugada syndrome 6 (BRGDA6) [MIM:613119] KCNE4 Q8WWG9 VAR_024411 p.Asp196Glu LB/B rs12621643 - KCNE4 Q8WWG9 VAR_030620 p.Gly98Ser LB/B rs13409084 - KCNE5 Q9UJ90 VAR_034048 p.Glu114Gln LB/B rs41312935 - KCNE5 Q9UJ90 VAR_053037 p.Pro33Ser LB/B rs17003955 - KCNE5 Q9UJ90 VAR_072679 p.Leu65Phe US rs1364685385 - KCNE5 Q9UJ90 VAR_072680 p.Tyr81His US rs199924386 - KCNG1 Q9UIX4 VAR_053860 p.Ile304Met LB/B rs17791052 - KCNG4 Q8TDN1 VAR_053861 p.Gly8Trp LB/B rs35379218 - KCNG4 Q8TDN1 VAR_053862 p.Arg206Trp LB/B rs11646443 - KCNG4 Q8TDN1 VAR_053863 p.Cys255Tyr LB/B rs17736370 - KCNG4 Q8TDN1 VAR_053864 p.Glu321Lys LB/B rs4782905 - KCNG4 Q8TDN1 VAR_053865 p.Gly325Arg LB/B rs7196482 - KCNG4 Q8TDN1 VAR_053866 p.Arg427His LB/B rs35649980 - KCNH1 O95259 VAR_072612 p.Lys217Asn LP/P rs727502822 Temple-Baraitser syndrome (TMBTS) [MIM:611816] KCNH1 O95259 VAR_072613 p.Leu489Phe LP/P rs1553345948 Temple-Baraitser syndrome (TMBTS) [MIM:611816] KCNH1 O95259 VAR_072614 p.Ile494Val LP/P rs727502819 Temple-Baraitser syndrome (TMBTS) [MIM:611816] KCNH1 O95259 VAR_072614 p.Ile494Val LP/P rs727502819 Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] KCNH1 O95259 VAR_072615 p.Gln503Arg LP/P rs727502821 Temple-Baraitser syndrome (TMBTS) [MIM:611816] KCNH1 O95259 VAR_073957 p.Ser352Tyr LP/P rs730882172 Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] KCNH1 O95259 VAR_073958 p.Gly375Arg LP/P rs730882174 Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] KCNH1 O95259 VAR_073959 p.Leu379Val LP/P rs730882176 Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] KCNH1 O95259 VAR_073960 p.Val383Leu LP/P rs730882173 Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] KCNH1 O95259 VAR_073961 p.Gly496Arg LP/P rs730882175 Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] KCNH2 Q12809 VAR_008578 p.Asn470Asp LP/P rs121912505 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008579 p.Arg534Cys LP/P rs199472916 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008580 p.Ala561Val LP/P rs121912504 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008581 p.Arg582Cys LP/P rs121912508 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008582 p.Ile593Arg LP/P rs28928904 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008583 p.Gly628Ser LP/P rs121912507 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008584 p.Val822Met LP/P rs121912506 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008907 p.Phe29Leu LP/P rs199472830 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008908 p.Asn33Thr LP/P rs199473487 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008909 p.Gly53Arg LP/P rs199472842 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008910 p.Arg56Gln LP/P rs199472845 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008911 p.Cys66Gly LP/P rs199473416 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008912 p.His70Arg LP/P rs199473419 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008913 p.Ala78Pro LP/P rs199472848 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008914 p.Leu86Arg LP/P rs199472851 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008915 p.Arg176Trp LP/P rs36210422 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008916 p.Thr436Met LP/P rs199472901 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008917 p.Thr474Ile LP/P rs199472906 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008918 p.Leu552Ser LP/P rs199472918 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008919 p.Ala558Pro LP/P rs121912516 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008920 p.Leu564Pro LP/P rs199472924 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008921 p.Tyr569His LP/P rs199473520 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008922 p.Gly572Arg LP/P rs9333649 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008923 p.Gly572Cys LP/P rs9333649 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008924 p.Gly584Ser LP/P rs199473428 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008925 p.Asn588Asp LP/P rs199473431 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008926 p.Gly601Ser LP/P rs199472936 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008927 p.Gly604Ser LP/P rs199473522 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008928 p.Tyr611His LP/P rs199472942 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008929 p.Val612Leu LP/P rs199472943 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008930 p.Thr613Met LP/P rs199473524 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008931 p.Ala614Val LP/P rs199472944 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008932 p.Asn629Asp LP/P rs199472956 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008933 p.Asn629Lys LP/P rs41307295 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008934 p.Val630Leu LP/P rs199472958 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008935 p.Val630Ala LP/P rs199473526 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008936 p.Asn633Ser LP/P rs199472961 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008937 p.Phe640Leu LP/P rs199472970 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008938 p.Ser818Leu LP/P rs121912510 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009179 p.Asn629Ser LP/P rs199472957 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009909 p.Gly47Val LP/P rs199473490 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009910 p.Pro72Gln US rs199473421 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009911 p.Arg312Cys US rs199472885 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009912 p.Pro347Ser LP/P rs138776684 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009913 p.Arg531Gln LP/P rs199473515 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009914 p.Trp585Cys US rs199473430 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009915 p.Ile593Thr LP/P rs28928904 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009916 p.Asp609Asn LP/P rs199472941 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014371 p.Thr65Pro LP/P rs121912511 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014373 p.Pro451Leu LP/P rs199472902 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014374 p.Ala561Thr LP/P rs199472921 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014375 p.Leu615Val LP/P rs199472945 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014376 p.Gly626Ser LP/P rs199472953 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014377 p.Phe627Leu LP/P rs199473039 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014378 p.Pro632Ser LP/P rs199473527 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014379 p.Glu637Lys LP/P rs199472968 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014380 p.Lys638Glu LP/P rs199473528 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014382 p.Met645Leu LP/P rs199472974 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014383 p.Arg752Trp LP/P rs199472990 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014384 p.Phe805Cys LP/P rs199472999 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014385 p.Phe805Ser LP/P rs199472999 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014386 p.Arg823Trp US rs199473538 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014387 p.Asn861Ile LP/P rs121912513 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014388 p.Lys897Thr LB/B rs1805123 - KCNH2 Q12809 VAR_014389 p.Pro917Leu LP/P rs76420733 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014390 p.Arg922Trp LP/P rs199473440 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_023840 p.Asn588Lys LP/P rs104894021 Short QT syndrome 1 (SQT1) [MIM:609620] KCNH2 Q12809 VAR_036669 p.Arg100Gly LP/P rs121912515 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_036670 p.Arg181Gln LB/B rs41308954 - KCNH2 Q12809 VAR_036671 p.Ala490Thr LP/P rs28928905 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_036672 p.Lys525Asn LP/P rs199472913 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_036673 p.Arg528Pro LP/P rs199472914 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_036674 p.Arg696Cys LP/P rs199472984 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_036675 p.Arg752Gln LP/P rs121912512 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_036676 p.Arg784Trp LB/B rs12720441 - KCNH2 Q12809 VAR_036677 p.Arg948Cys LP/P rs121912514 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_036678 p.Pro1016Ser LB/B rs41307280 - KCNH2 Q12809 VAR_036679 p.Pro1016Leu LB/B rs41313074 - KCNH2 Q12809 VAR_036680 p.Pro1020Ser LB/B rs41307274 - KCNH2 Q12809 VAR_036681 p.Pro1026Leu LB/B rs41307271 - KCNH2 Q12809 VAR_036682 p.Arg1055Gln LB/B rs41307270 - KCNH2 Q12809 VAR_068249 p.Ser26Ile LP/P rs199472827 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068250 p.Ile31Ser LP/P rs199472833 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068251 p.Ser55Leu LP/P rs199472844 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068252 p.Ala85Val LP/P rs199473494 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068253 p.Arg100Gln LP/P rs199472855 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068254 p.Gly238Ser LP/P rs199473501 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068255 p.Gly306Trp LP/P rs199472884 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068256 p.Ser320Leu LP/P rs199472886 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068257 p.Arg328Cys LP/P rs199473505 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068258 p.Tyr420Cys LP/P rs199473507 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068259 p.Thr421Met LP/P rs199472894 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068260 p.Ala422Thr LP/P rs199472895 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068261 p.Tyr427Ser LP/P rs199472897 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068262 p.Asp456Tyr LP/P rs199473510 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068264 p.His562Pro LP/P rs199472922 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068265 p.Ile571Leu LP/P rs199472928 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068266 p.Gly572Ser LP/P rs9333649 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068267 p.Pro596Arg LP/P rs199472933 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068268 p.Leu622Phe LP/P rs199473525 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068269 p.Thr623Ile LP/P rs199472950 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068270 p.Gly628Val LP/P rs199472955 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068271 p.Asn635Ile LP/P rs199472964 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068272 p.Phe640Val LP/P rs199473529 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068273 p.Ser641Phe LP/P rs199472971 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068275 p.Pro721Leu LP/P rs199472986 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068276 p.Arg744Pro LP/P - Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068277 p.Asp774Tyr LP/P rs199472995 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068278 p.Glu788Asp LP/P rs199473535 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068279 p.Gly820Arg LP/P rs199473001 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068280 p.Asp837Gly LP/P rs199473004 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068281 p.Arg887His LP/P rs199473432 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068282 p.Ala913Val LP/P rs77331749 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068283 p.Gly925Arg LP/P rs199473010 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068284 p.Thr983Ile LP/P rs149955375 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068285 p.Asn996Ile LP/P rs199473018 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_068286 p.Gly1036Asp LP/P rs199473022 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074684 p.Leu413Pro LP/P rs199472893 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074685 p.Glu444Asp LP/P rs9770044 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074686 p.Leu559His LP/P rs199472920 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074765 p.Asp16Ala US rs199472825 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074766 p.Arg20Gly US rs199473486 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074767 p.Ile30Thr US rs199472832 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074768 p.Ala32Thr US rs199472834 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074769 p.Val41Phe US rs199472835 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074770 p.Tyr43Cys US rs199472836 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074771 p.Asn45Tyr US rs199472839 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074772 p.Cys49Tyr US rs199472840 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074773 p.Gly53Asp US rs199473491 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074774 p.Tyr54His US rs199472843 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074775 p.Ala57Pro US rs199472846 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074776 p.Glu58Ala US rs199472847 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074777 p.Glu58Asp US rs199473492 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074778 p.Glu58Gly US rs199472847 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074779 p.Cys64Trp US rs199473414 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074780 p.Phe68Leu US rs199473417 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074781 p.His70Asn US rs199473418 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074782 p.Gly71Arg US rs199473420 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074784 p.Pro72Leu US rs199473421 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074785 p.Thr74Met LP/P rs199473422 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074786 p.Thr74Pro US rs199473666 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074787 p.Thr74Arg US rs199473422 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074788 p.Leu86Pro US rs199472851 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074789 p.Val94Gly US rs199472852 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074790 p.Arg100Trp US rs121912515 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074791 p.Asp102Ala US rs199472857 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074792 p.Phe106Tyr US rs199472858 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074793 p.Cys108Arg US rs199472859 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074794 p.Pro114Ser US rs199472861 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074795 p.Phe125Cys US rs199473499 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074796 p.Pro141Leu US rs199472864 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074797 p.Gly149Ala US rs199472865 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074798 p.Arg164His US rs199472866 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074799 p.Met218Val US rs199472869 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074800 p.Arg242Gly US rs199472872 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074801 p.Pro251Ser US rs199472873 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074802 p.Asp259Asn US rs199472876 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074803 p.Ala277Asp US rs199472878 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074804 p.Met291Thr US rs199472881 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074805 p.Arg301Leu US rs199472883 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074806 p.Gly314Ser US rs199473504 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074807 p.Asp323Asn US rs199472887 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074808 p.His402Arg US rs199473506 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074809 p.Trp410Ser US rs199472892 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074810 p.Pro426His US rs199472896 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074811 p.Tyr427Cys US rs199472897 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074812 p.Tyr427His LP/P rs199472898 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074813 p.Ser428Leu US rs199472899 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074814 p.Phe431Leu US rs199472900 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074815 p.Pro440Leu US rs199473509 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074816 p.Asp460Tyr US rs199472903 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074817 p.Asp466Tyr US rs199473511 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074818 p.Thr473Asn US rs199472905 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074819 p.Tyr475Cys US rs199472907 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074820 p.Val476Ile US rs199472908 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074821 p.Tyr493Cys US rs199472911 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074822 p.Tyr493Ser US rs199472911 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074823 p.Asp501His US rs199472912 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074824 p.Asp501Asn US rs199472912 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074825 p.Arg531Trp US rs199472915 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074826 p.Arg534Leu LP/P rs199473516 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074827 p.Ala558Glu US rs199472919 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074828 p.His562Arg US rs199472922 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074829 p.Ala565Thr US rs199473518 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074830 p.Cys566Ser US rs199472925 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074831 p.Trp568Arg US rs199472927 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074832 p.Ile571Val US rs199472928 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074833 p.Gly572Asp LP/P rs199473423 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074834 p.Gly572Val US rs199473423 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074835 p.Arg582Leu US rs199473426 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074836 p.Gly584Arg US rs199473428 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074837 p.Ile593Lys US rs28928904 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074838 p.Gly594Asp US rs199472931 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074839 p.Pro596His US rs199472933 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074840 p.Pro596Leu US rs199472933 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074841 p.Tyr597Cys US rs199472934 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074842 p.Ser599Arg US rs199472935 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074843 p.Gly601Cys US rs199472936 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074844 p.Pro605Leu US rs199472938 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074845 p.Pro605Ser US rs199472939 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074846 p.Asp609Gly US rs199472940 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074847 p.Asp609His US rs199472941 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074848 p.Leu615Phe US rs199472945 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074849 p.Tyr616Cys US rs199472946 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074850 p.Ser621Arg US rs199472949 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074851 p.Gly626Ala US rs199472952 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074852 p.Gly626Asp US rs199472952 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074853 p.Asn629Ile US rs199472957 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074854 p.Thr634Ile US rs199472962 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074855 p.Asn635Asp US rs199472963 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074856 p.Asn635Lys US rs199472965 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074857 p.Glu637Asp LP/P rs199472966 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074858 p.Lys638Asn US rs199472969 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074859 p.Val644Phe LP/P rs199472972 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074860 p.Val644Leu US rs199472972 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074861 p.Met645Ile US rs199472973 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074862 p.Gly648Ser US rs199472975 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074863 p.Phe656Cys US rs199472977 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074864 p.Gly657Arg US rs199472978 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074865 p.Ser660Leu LP/P rs199472979 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074866 p.Ile662Thr US rs199472980 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074867 p.Leu678Pro US rs199472981 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074868 p.His687Tyr US rs199472982 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074869 p.Leu693Pro US rs199472983 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074870 p.Arg696Pro US rs199473531 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074871 p.Ile711Val US rs199473532 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074872 p.Ile728Phe US rs199473533 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074873 p.Gly749Val US rs199472989 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074874 p.Lys757Asn US rs199472992 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074875 p.Asp767Tyr US rs199472993 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074876 p.Val770Ala US rs199472994 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074877 p.Glu788Lys US rs199472997 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074879 p.Arg791Trp US rs138498207 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074880 p.Gly800Trp US rs199472998 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074881 p.Gly806Glu US rs199473000 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074882 p.Ser818Pro US rs199473537 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074883 p.Asp837Tyr US rs199473005 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074884 p.Pro846Ser US rs199473006 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074885 p.Asn861His US rs199473007 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074886 p.Arg885Cys US rs143512106 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074887 p.Arg894Cys US rs199473433 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074888 p.Arg894Leu US rs199473668 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074889 p.Gly903Arg US rs199473669 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074890 p.Ser906Leu US rs199473435 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074891 p.Arg920Gln US rs199473670 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074892 p.Arg920Trp US rs199473438 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074893 p.Arg922Gln US rs199473439 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074894 p.Gly924Ala US rs199473009 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074895 p.Gly924Glu US rs199473009 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074896 p.Ser937Asn US rs199473540 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074897 p.Pro968Leu US rs199473017 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074898 p.Arg1005Gln US rs199473019 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074899 p.Arg1007His US rs199473542 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074900 p.Arg1033Trp US rs199473021 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074901 p.Val1038Met US rs199473544 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074902 p.Leu1049Pro US rs199473026 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074903 p.Leu1066Val US rs199473027 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074904 p.Tyr1078Cys US rs199473029 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074905 p.Pro1093Leu US rs199473545 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074906 p.Met1115Val LP/P rs199473546 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_074907 p.His1153Tyr US rs199473035 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_077953 p.Cys64Tyr LP/P rs199473415 Long QT syndrome 2 (LQT2) [MIM:613688] KCNH4 Q9UQ05 VAR_035771 p.Gly797Arg US - A colorectal cancer sample KCNH5 Q8NCM2 VAR_065162 p.Ala745Thr LB/B rs4902176 - KCNH5 Q8NCM2 VAR_077834 p.Arg327His US rs587777164 - KCNH6 Q9H252 VAR_053857 p.Gly165Arg LB/B rs35399062 - KCNH6 Q9H252 VAR_053858 p.Thr925Met LB/B rs35819807 - KCNH7 Q9NS40 VAR_057767 p.Gly958Ala LB/B rs6757850 - KCNH8 Q96L42 VAR_055098 p.Gln893Arg LB/B rs33915638 - KCNH8 Q96L42 VAR_055099 p.Glu984Gln LB/B rs35160416 - KCNIP3 Q9Y2W7 VAR_035463 p.Ala170Ser US - A breast cancer sample KCNIP3 Q9Y2W7 VAR_035464 p.Asp179Tyr US - A breast cancer sample KCNIP3 Q9Y2W7 VAR_048663 p.Ala119Val LB/B rs35658670 - KCNJ1 P48048 VAR_001548 p.Val72Glu LP/P - Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] KCNJ1 P48048 VAR_001549 p.Asp74Tyr LP/P - Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] KCNJ1 P48048 VAR_001550 p.Trp99Cys LP/P rs1213764655 Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] KCNJ1 P48048 VAR_001551 p.Asp108His LP/P rs104894250 Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] KCNJ1 P48048 VAR_001552 p.Pro110Leu LP/P rs373745258 Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] KCNJ1 P48048 VAR_001553 p.Val122Glu LP/P rs766131330 Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] KCNJ1 P48048 VAR_001554 p.Gly167Glu LP/P rs104894254 Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] KCNJ1 P48048 VAR_001555 p.Ala198Thr LP/P rs104894253 Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] KCNJ1 P48048 VAR_001556 p.Val315Gly LP/P rs753949204 Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] KCNJ1 P48048 VAR_019724 p.Asn124Lys LP/P rs104894251 Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] KCNJ1 P48048 VAR_019725 p.Ala214Val LP/P rs104894246 Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] KCNJ1 P48048 VAR_019726 p.Ser219Arg LP/P rs104894245 Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] KCNJ1 P48048 VAR_019727 p.Met357Thr LP/P rs59172778 Bartter syndrome 2, antenatal (BARTS2) [MIM:241200] KCNJ1 P48048 VAR_036426 p.Ser115Phe US - A breast cancer sample KCNJ1 P48048 VAR_049668 p.Arg6Trp LB/B rs34191956 - KCNJ10 P78508 VAR_020339 p.Arg271His LB/B rs3795339 - KCNJ10 P78508 VAR_034018 p.Arg271Cys LB/B rs1130183 - KCNJ10 P78508 VAR_063059 p.Arg65Pro LP/P rs137853066 Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance (SESAMES) [MIM:612780] KCNJ10 P78508 VAR_063060 p.Gly77Arg LP/P rs137853072 Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance (SESAMES) [MIM:612780] KCNJ10 P78508 VAR_063061 p.Cys140Arg LP/P rs137853068 Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance (SESAMES) [MIM:612780] KCNJ10 P78508 VAR_063062 p.Thr164Ile LP/P rs137853069 Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance (SESAMES) [MIM:612780] KCNJ10 P78508 VAR_063063 p.Ala167Val LP/P rs137853070 Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance (SESAMES) [MIM:612780] KCNJ10 P78508 VAR_063064 p.Arg297Cys LP/P rs137853071 Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance (SESAMES) [MIM:612780] KCNJ10 P78508 VAR_072746 p.Leu68Pro LP/P - Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance (SESAMES) [MIM:612780] KCNJ10 P78508 VAR_072747 p.Ile129Val LP/P rs751625111 Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance (SESAMES) [MIM:612780] KCNJ11 Q14654 VAR_001557 p.Leu147Pro LP/P rs28936678 Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_008659 p.Glu10Lys LB/B rs587783667 - KCNJ11 Q14654 VAR_008660 p.Lys23Glu LB/B rs5219 - KCNJ11 Q14654 VAR_008661 p.Leu270Val LB/B rs1800467 - KCNJ11 Q14654 VAR_008662 p.Val337Ile LB/B rs5215 - KCNJ11 Q14654 VAR_008663 p.Leu355Pro LB/B rs797045635 - KCNJ11 Q14654 VAR_008665 p.Ser385Cys LB/B rs41282930 - KCNJ11 Q14654 VAR_014929 p.Arg195His LB/B rs5217 - KCNJ11 Q14654 VAR_026498 p.Phe35Leu LP/P rs193929333 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_026499 p.Phe35Val LP/P rs193929333 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_026500 p.Arg50Pro LP/P rs80356611 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_026501 p.Gln52Arg LP/P rs193929337 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_026502 p.Gly53Arg LP/P rs80356613 Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582] KCNJ11 Q14654 VAR_026503 p.Gly53Ser LP/P rs80356613 Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582] KCNJ11 Q14654 VAR_026504 p.Val59Gly LP/P rs80356617 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_026505 p.Val59Met LP/P rs80356616 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_026506 p.Lys67Asn LP/P rs747719667 Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_026507 p.Trp91Arg LP/P - Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_026508 p.Lys170Asn LP/P rs80356622 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_026509 p.Lys170Arg LP/P rs80356621 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_026510 p.Ile182Val LP/P rs193929348 Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582] KCNJ11 Q14654 VAR_026511 p.Arg201Cys LP/P rs80356625 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_026512 p.Arg201His LP/P rs80356624 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_026513 p.Pro254Leu LP/P rs104894237 Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_026514 p.Ile296Leu LP/P rs193929353 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_026515 p.Glu322Lys LP/P rs193929355 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_026516 p.Tyr330Cys LP/P rs193929356 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_026517 p.Phe333Ile LP/P rs193929357 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_031329 p.Arg34His LP/P rs141145502 Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031330 p.Gly40Asp LP/P rs1001873841 Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031331 p.Cys42Arg LP/P rs80356610 Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582] KCNJ11 Q14654 VAR_031332 p.His46Tyr LP/P - Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_031333 p.Arg50Gln LP/P rs80356611 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_031334 p.Gly53Asp LP/P rs80356615 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_031335 p.Phe55Leu LP/P rs1343400778 Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031336 p.Ala101Asp LP/P rs1014454531 Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031337 p.Ser116Pro LP/P rs1953587696 Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031338 p.Gly134Ala LP/P - Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031339 p.Arg136Leu LP/P rs1479483693 Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031340 p.Ile148Ser LB/B - - KCNJ11 Q14654 VAR_031341 p.Leu164Pro LP/P - Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_031342 p.Cys166Tyr LP/P rs80356618 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_031343 p.Lys170Thr LP/P - Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_031344 p.Arg201Leu LP/P rs80356624 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_031345 p.His259Arg LP/P rs104894248 Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031346 p.Pro266Leu LP/P rs1554901679 Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031347 p.Arg301His LP/P rs74339576 Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031348 p.Tyr330Ser LP/P - Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_055978 p.Ala18Gly LB/B rs41309072 - KCNJ11 Q14654 VAR_073681 p.Phe60Tyr LP/P rs387906783 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_073682 p.Val64Leu US rs115716690 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_073683 p.Gly156Arg LP/P rs1404429785 Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_073684 p.Ile167Leu LP/P rs80356620 Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] KCNJ11 Q14654 VAR_073685 p.Asp204Glu LP/P rs577757932 Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_073686 p.Glu227Lys LP/P rs587783672 Maturity-onset diabetes of the young 13 (MODY13) [MIM:616329] KCNJ11 Q14654 VAR_073687 p.Glu282Lys LP/P rs267607196 Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] KCNJ12 Q14500 VAR_024509 p.Arg6Gln LB/B rs3752032 - KCNJ12 Q14500 VAR_049671 p.Ser15Leu LB/B rs1657738 - KCNJ12 Q14500 VAR_049672 p.Pro156Leu LB/B rs1714864 - KCNJ12 Q14500 VAR_049673 p.Ile249Val LB/B rs4985866 - KCNJ12 Q14500 VAR_059365 p.Ile100Val LB/B rs8076599 - KCNJ12 Q14500 VAR_059366 p.Arg118Gln LB/B rs1657740 - KCNJ12 Q14500 VAR_059367 p.Gln192His LB/B rs1657742 - KCNJ12 Q14500 VAR_059368 p.Glu430Gly LB/B rs5021699 - KCNJ13 O60928 VAR_016193 p.Thr175Ile LB/B rs1801251 - KCNJ13 O60928 VAR_043509 p.Arg162Trp LP/P rs121918542 Snowflake vitreoretinal degeneration (SVD) [MIM:193230] KCNJ13 O60928 VAR_043510 p.Pro290Gln LB/B rs17853727 - KCNJ13 O60928 VAR_043511 p.Gly309Cys LB/B rs17857137 - KCNJ13 O60928 VAR_066488 p.Gln117Arg LP/P - Leber congenital amaurosis 16 (LCA16) [MIM:614186] KCNJ13 O60928 VAR_066489 p.Arg162Gln LB/B rs757304681 - KCNJ13 O60928 VAR_066490 p.Leu241Pro LP/P rs143607153 Leber congenital amaurosis 16 (LCA16) [MIM:614186] KCNJ13 O60928 VAR_066491 p.Glu276Ala LB/B rs374411396 - KCNJ14 Q9UNX9 VAR_034019 p.Arg289Cys LB/B rs3745725 - KCNJ15 Q99712 VAR_019728 p.Gly98Asp LB/B rs2230033 - KCNJ15 Q99712 VAR_025523 p.Met30Leu LB/B rs3746875 - KCNJ15 Q99712 VAR_036427 p.Ala71Thr US rs199857043 A breast cancer sample KCNJ16 Q9NPI9 VAR_024510 p.Ile11Val LB/B rs9302912 - KCNJ16 Q9NPI9 VAR_085941 p.Thr64Ile LP/P - Hypokalemic tubulopathy and deafness (HKTD) [MIM:619406] KCNJ16 Q9NPI9 VAR_085942 p.Ile132Arg LP/P - Hypokalemic tubulopathy and deafness (HKTD) [MIM:619406] KCNJ16 Q9NPI9 VAR_085943 p.Gly135Ala LP/P - Hypokalemic tubulopathy and deafness (HKTD) [MIM:619406] KCNJ16 Q9NPI9 VAR_085944 p.Arg137Cys LP/P - Hypokalemic tubulopathy and deafness (HKTD) [MIM:619406] KCNJ16 Q9NPI9 VAR_085946 p.Pro250Leu LP/P - Hypokalemic tubulopathy and deafness (HKTD) [MIM:619406] KCNJ18 B7U540 VAR_063286 p.Thr140Met LP/P rs527236152 Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239] KCNJ18 B7U540 VAR_063287 p.Arg205His LP/P rs672601244 Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239] KCNJ18 B7U540 VAR_063288 p.Thr354Met LP/P rs527236158 Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239] KCNJ18 B7U540 VAR_063289 p.Lys366Arg LP/P rs527236159 Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239] KCNJ18 B7U540 VAR_079831 p.Arg43Cys US rs527236151 - KCNJ18 B7U540 VAR_079832 p.Ala56Glu LB/B rs1435508633 - KCNJ18 B7U540 VAR_079834 p.Val168Met US rs527236154 Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239] KCNJ18 B7U540 VAR_079835 p.Gly169Arg LB/B rs1311839715 - KCNJ18 B7U540 VAR_079836 p.Ala200Pro US rs527236155 - KCNJ18 B7U540 VAR_079837 p.Ile249Val LB/B rs1182398045 - KCNJ18 B7U540 VAR_079838 p.Lys360Thr LP/P - Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239] KCNJ18 B7U540 VAR_079839 p.Glu388Lys LP/P - Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239] KCNJ2 P63252 VAR_017851 p.Arg67Trp LP/P rs104894580 Long QT syndrome 7 (LQT7) [MIM:170390] KCNJ2 P63252 VAR_017852 p.Asp71Val LP/P rs104894575 Long QT syndrome 7 (LQT7) [MIM:170390] KCNJ2 P63252 VAR_017854 p.Pro186Leu LP/P rs104894581 Long QT syndrome 7 (LQT7) [MIM:170390] KCNJ2 P63252 VAR_017855 p.Asn216His LP/P rs104894583 Long QT syndrome 7 (LQT7) [MIM:170390] KCNJ2 P63252 VAR_017856 p.Arg218Trp LP/P rs104894578 Long QT syndrome 7 (LQT7) [MIM:170390] KCNJ2 P63252 VAR_017857 p.Gly300Val LP/P rs104894579 Long QT syndrome 7 (LQT7) [MIM:170390] KCNJ2 P63252 VAR_017858 p.Val302Met LP/P rs104894582 Long QT syndrome 7 (LQT7) [MIM:170390] KCNJ2 P63252 VAR_023842 p.Asp172Asn LP/P rs104894584 Short QT syndrome 3 (SQT3) [MIM:609622] KCNJ2 P63252 VAR_065861 p.Cys54Phe LP/P rs199473650 Long QT syndrome 7 (LQT7) [MIM:170390] KCNJ2 P63252 VAR_065862 p.Thr75Arg LP/P rs104894585 Long QT syndrome 7 (LQT7) [MIM:170390] KCNJ2 P63252 VAR_065863 p.Val93Ile LP/P rs147750704 Atrial fibrillation, familial, 9 (ATFB9) [MIM:613980] KCNJ2 P63252 VAR_065864 p.Thr305Pro LP/P rs199473387 Long QT syndrome 7 (LQT7) [MIM:170390] KCNJ3 P48549 VAR_049669 p.Lys40Arg LB/B rs16838016 - KCNJ5 P48544 VAR_063107 p.Gln282Glu LB/B rs7102584 - KCNJ5 P48544 VAR_063766 p.Gly387Arg LP/P rs199830292 Long QT syndrome 13 (LQT13) [MIM:613485] KCNJ5 P48544 VAR_065929 p.Arg39His LB/B rs560269341 - KCNJ5 P48544 VAR_065930 p.Gly151Arg LP/P rs386352319 Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677] KCNJ5 P48544 VAR_065931 p.Thr158Ala LP/P rs387906778 Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677] KCNJ5 P48544 VAR_065932 p.Leu168Arg LB/B rs386352318 - KCNJ5 P48544 VAR_065933 p.Met210Ile LB/B rs138295501 - KCNJ5 P48544 VAR_067090 p.Gly151Glu LP/P rs587777437 Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677] KCNJ5 P48544 VAR_069182 p.Glu145Gln US - - KCNJ5 P48544 VAR_077577 p.Tyr152Cys LP/P - Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677] KCNJ5 P48544 VAR_077578 p.Ile157Ser LP/P rs587777438 Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677] KCNJ5 P48544 VAR_077579 p.Val259Met US rs759363415 - KCNJ5 P48544 VAR_077580 p.Tyr348Asn US - - KCNJ6 P48051 VAR_073431 p.Gly154Ser LP/P rs786204795 Keppen-Lubinsky syndrome (KPLBS) [MIM:614098] KCNJ8 Q15842 VAR_049670 p.Val334Ala LB/B rs34811413 - KCNJ8 Q15842 VAR_065225 p.Ser422Leu US rs72554071 - KCNJ8 Q15842 VAR_065879 p.Val346Ile LP/P rs147316959 Sudden infant death syndrome (SIDS) [MIM:272120] KCNJ8 Q15842 VAR_075226 p.Cys176Ser US rs606231264 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] KCNJ8 Q15842 VAR_079518 p.Val65Met US rs606231263 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] KCNJ9 Q92806 VAR_023568 p.Ala366Val LB/B rs3001040 - KCNK10 P57789 VAR_052428 p.Ala512Thr LB/B rs17762463 - KCNK10 P57789 VAR_060216 p.Lys70Gln LB/B rs398263 - KCNK13 Q9HB14 VAR_034052 p.Gly389Ala LB/B rs35909577 - KCNK13 Q9HB14 VAR_052429 p.Gly305Arg LB/B rs3814848 - KCNK15 Q9H427 VAR_014211 p.Glu95Gly LB/B rs1111032 - KCNK15 Q9H427 VAR_014212 p.Thr260Pro LB/B rs6073538 - KCNK15 Q9H427 VAR_014213 p.Pro261His LB/B rs13037900 - KCNK15 Q9H427 VAR_014214 p.Leu323Pro LB/B rs13042905 - KCNK16 Q96T55 VAR_052430 p.Pro301His LB/B rs11756091 - KCNK16 Q96T55 VAR_063636 p.Phe215Leu LB/B rs9462527 - KCNK16 Q96T55 VAR_063637 p.Ala275Gly LB/B rs1535500 - KCNK17 Q96T54 VAR_024683 p.Arg296Gln LB/B rs2758910 - KCNK17 Q96T54 VAR_032362 p.Ser21Gly LB/B rs10947804 - KCNK17 Q96T54 VAR_032363 p.Met253Leu LB/B rs35677794 - KCNK18 Q7Z418 VAR_037521 p.Phe58Tyr LB/B rs3909165 - KCNK18 Q7Z418 VAR_037522 p.Ala198Gly LB/B rs363359 - KCNK18 Q7Z418 VAR_037523 p.Ser231Pro LB/B rs363315 - KCNK18 Q7Z418 VAR_037524 p.Ala233Val LB/B rs363360 - KCNK18 Q7Z418 VAR_037525 p.Glu255Lys LB/B rs3026042 - KCNK18 Q7Z418 VAR_037526 p.Val346Ile LB/B rs12247136 - KCNK18 Q7Z418 VAR_064027 p.Ala34Val LB/B - - KCNK3 O14649 VAR_070126 p.Thr8Lys LP/P rs1085307438 Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344] KCNK3 O14649 VAR_070127 p.Gly97Arg LP/P rs398123040 Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344] KCNK3 O14649 VAR_070128 p.Glu182Lys LP/P rs398123042 Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344] KCNK3 O14649 VAR_070129 p.Tyr192Cys LP/P rs398123043 Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344] KCNK3 O14649 VAR_070130 p.Gly203Asp LP/P rs398123039 Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344] KCNK3 O14649 VAR_070131 p.Val221Leu LP/P rs398123041 Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344] KCNK4 Q9NYG8 VAR_020206 p.Pro328Leu LB/B rs953778 - KCNK4 Q9NYG8 VAR_082119 p.Ala172Glu LP/P - Facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome (FHEIG) [MIM:618381] KCNK4 Q9NYG8 VAR_082120 p.Ala244Pro LP/P - Facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome (FHEIG) [MIM:618381] KCNK5 O95279 VAR_052425 p.Pro465Thr LB/B rs9462487 - KCNK6 Q9Y257 VAR_052426 p.Thr150Ile LB/B rs35762773 - KCNK6 Q9Y257 VAR_052427 p.Val259Met LB/B rs34989303 - KCNK6 Q9Y257 VAR_059842 p.Val240Ile LB/B rs35496032 - KCNK9 Q9NPC2 VAR_054373 p.Gly236Arg LP/P rs121908332 Birk-Barel syndrome (BIBARS) [MIM:612292] KCNK9 Q9NPC2 VAR_084510 p.Ala237Asp LP/P - Birk-Barel syndrome (BIBARS) [MIM:612292] KCNMA1 Q12791 VAR_023821 p.Asp434Gly LP/P rs137853333 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy (PNKD3) [MIM:609446] KCNMA1 Q12791 VAR_079156 p.Glu884Lys LP/P - Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy (PNKD3) [MIM:609446] KCNMA1 Q12791 VAR_079157 p.Asn1053Ser LP/P rs886039469 Epilepsy, idiopathic generalized 16 (EIG16) [MIM:618596] KCNMA1 Q12791 VAR_079157 p.Asn1053Ser LP/P rs886039469 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy (PNKD3) [MIM:609446] KCNMA1 Q12791 VAR_083204 p.Lys518Asn US rs201996416 - KCNMA1 Q12791 VAR_083205 p.Glu656Ala US rs917980352 - KCNMA1 Q12791 VAR_083206 p.Asn1217Ser US rs563967757 - KCNMA1 Q12791 VAR_083554 p.Gly375Arg LP/P rs1554829003 Liang-Wang syndrome (LIWAS) [MIM:618729] KCNMB1 Q16558 VAR_019325 p.Glu65Lys LB/B rs11739136 - KCNMB1 Q16558 VAR_047009 p.Val110Leu LB/B rs2301149 - KCNMB3 Q9NPA1 VAR_018173 p.Asp44Gly LB/B rs1170672 - KCNMB3 Q9NPA1 VAR_018174 p.Ala53Thr LB/B rs7645550 - KCNMB3 Q9NPA1 VAR_018175 p.Leu75Val LB/B rs2276802 - KCNMB3 Q9NPA1 VAR_018176 p.Asn165Ser LB/B rs55710741 - KCNMB3 Q9NPA1 VAR_018177 p.Met230Thr LB/B rs145985409 - KCNMB4 Q86W47 VAR_018178 p.Val199Ile LB/B - - KCNN2 Q9H2S1 VAR_086742 p.Glu30Gln US - Neurodevelopmental disorder with or without variable movement or behavioral abnormalities (NEDMAB) [MIM:619725] KCNN2 Q9H2S1 VAR_086744 p.Ile288Ser LP/P - Neurodevelopmental disorder with or without variable movement or behavioral abnormalities (NEDMAB) [MIM:619725] KCNN2 Q9H2S1 VAR_086746 p.Ile359Met LP/P - Neurodevelopmental disorder with or without variable movement or behavioral abnormalities (NEDMAB) [MIM:619725] KCNN2 Q9H2S1 VAR_086747 p.Tyr361Cys LP/P - Neurodevelopmental disorder with or without variable movement or behavioral abnormalities (NEDMAB) [MIM:619725] KCNN2 Q9H2S1 VAR_086748 p.Gly362Ser LP/P - Neurodevelopmental disorder with or without variable movement or behavioral abnormalities (NEDMAB) [MIM:619725] KCNN2 Q9H2S1 VAR_086749 p.Gly371Glu US - Dystonia 34, myoclonic (DYT34) [MIM:619724] KCNN2 Q9H2S1 VAR_086750 p.Leu388Val LP/P - Neurodevelopmental disorder with or without variable movement or behavioral abnormalities (NEDMAB) [MIM:619725] KCNN2 Q9H2S1 VAR_086751 p.Leu432Pro LP/P - Neurodevelopmental disorder with or without variable movement or behavioral abnormalities (NEDMAB) [MIM:619725] KCNN3 Q9UGI6 VAR_083434 p.Lys269Glu LP/P rs1571353663 Zimmermann-Laband syndrome 3 (ZLS3) [MIM:618658] KCNN3 Q9UGI6 VAR_083435 p.Gly350Asp LP/P rs1571260285 Zimmermann-Laband syndrome 3 (ZLS3) [MIM:618658] KCNN3 Q9UGI6 VAR_083436 p.Ser436Cys LP/P rs1571259807 Zimmermann-Laband syndrome 3 (ZLS3) [MIM:618658] KCNN3 Q9UGI6 VAR_083437 p.Val450Leu US - - KCNN4 O15554 VAR_074485 p.Val282Glu LP/P rs1057519077 Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689] KCNN4 O15554 VAR_074486 p.Val282Met LP/P rs1057519076 Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689] KCNN4 O15554 VAR_074487 p.Arg352His LP/P rs774455945 Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689] KCNQ1 P51787 VAR_001516 p.Gly168Arg LP/P rs179489 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001517 p.Arg174Cys LP/P rs199472696 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001518 p.Ala178Pro LP/P rs120074177 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001519 p.Gly189Arg LP/P rs104894252 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001520 p.Arg190Gln LP/P rs120074178 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001521 p.Gly216Arg LP/P - Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001522 p.Val254Met LP/P rs120074179 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001523 p.Glu261Lys LP/P rs199472722 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001524 p.Gly269Asp LP/P rs120074194 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001525 p.Leu273Phe LP/P rs120074180 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001526 p.Ala300Thr LP/P rs120074187 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001527 p.Trp305Ser LP/P rs120074186 Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400] KCNQ1 P51787 VAR_001528 p.Gly306Arg US rs120074181 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001529 p.Thr309Arg LP/P rs199472743 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001530 p.Thr312Ile LP/P rs120074182 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001531 p.Ile313Met LP/P rs199472747 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001532 p.Gly314Ser LP/P rs120074184 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001533 p.Tyr315Ser LP/P rs74462309 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001534 p.Asp317Asn LP/P rs199472751 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001535 p.Pro320Ala LP/P rs199472753 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001536 p.Gly325Arg LP/P rs199472756 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001538 p.Ala341Glu LP/P rs12720459 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001539 p.Ala341Val LP/P rs12720459 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001540 p.Leu342Phe LP/P rs199472760 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001541 p.Ala344Val LP/P rs199472763 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001542 p.Gly345Glu LP/P rs120074183 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001543 p.Arg366Pro LP/P rs199473410 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001544 p.Ala371Thr LP/P rs199473412 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001545 p.Arg555Cys LP/P rs120074185 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008124 p.Phe157Cys LP/P rs199472690 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008125 p.Tyr184Ser LP/P rs199473397 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008126 p.Gly345Arg LP/P rs199473471 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008127 p.Ser373Pro LP/P rs199472766 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008128 p.Trp392Arg LP/P rs199472774 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008939 p.Arg174His LP/P rs199472697 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008940 p.Asp242Asn LP/P rs199472712 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008941 p.Arg243His LP/P rs120074196 Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400] KCNQ1 P51787 VAR_008942 p.Trp248Arg LP/P rs199473459 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008943 p.Leu250His LP/P rs199472715 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008944 p.Glu261Asp LP/P rs199472721 Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400] KCNQ1 P51787 VAR_008945 p.Tyr281Cys LP/P rs199472732 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008946 p.Tyr315Cys LP/P rs74462309 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008947 p.Lys318Asn LP/P rs199472752 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008948 p.Arg366Trp LP/P rs199473411 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008949 p.Arg533Trp LP/P rs199472793 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008950 p.Arg539Trp LP/P rs199472795 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008951 p.Thr587Met LP/P rs120074189 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008952 p.Gly589Asp LP/P rs120074190 Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400] KCNQ1 P51787 VAR_008952 p.Gly589Asp LP/P rs120074190 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008953 p.Arg591His LP/P rs199472814 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008954 p.Gly643Ser LB/B rs1800172 - KCNQ1 P51787 VAR_009180 p.Leu353Pro LP/P rs199473403 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009181 p.Ala525Thr LP/P rs120074188 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009918 p.Tyr111Cys US rs199472678 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009919 p.Glu160Lys LP/P rs199473453 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009920 p.Ala178Thr LP/P rs120074177 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009921 p.Gly179Ser US rs199473394 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009922 p.Ala194Pro US rs199472699 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009923 p.Ser225Leu LP/P rs199473456 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009924 p.Leu266Pro LP/P rs199473460 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009925 p.Gly269Ser LP/P rs120074193 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009926 p.Val310Ile LP/P rs199472745 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009927 p.Thr311Ile LP/P rs199472746 Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400] KCNQ1 P51787 VAR_009927 p.Thr311Ile LP/P rs199472746 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009928 p.Ser349Trp LP/P rs199472765 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009929 p.Arg366Gln LP/P rs199473410 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009930 p.Thr391Ile LP/P rs199473474 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009931 p.Pro448Arg LP/P rs12720449 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009932 p.Ser566Phe LP/P rs199472804 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009933 p.Arg583Cys LP/P rs17221854 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009934 p.Arg594Gln LP/P rs199472815 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_010933 p.Arg243Cys LP/P rs199472713 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_010934 p.Val417Met LP/P rs267607197 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_015742 p.Ser140Gly LP/P rs120074192 Atrial fibrillation, familial, 3 (ATFB3) [MIM:607554] KCNQ1 P51787 VAR_023841 p.Val307Leu LP/P rs120074195 Short QT syndrome 2 (SQT2) [MIM:609621] KCNQ1 P51787 VAR_048025 p.Lys362Arg LP/P rs12720458 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_048026 p.Lys393Asn LB/B rs12720457 - KCNQ1 P51787 VAR_065777 p.Ser277Leu LP/P rs199472730 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_065778 p.Pro320His LP/P rs199473470 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068287 p.Pro73Thr US rs199472676 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068288 p.Glu115Gly LP/P rs199472679 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068289 p.Cys122Tyr LP/P rs199472681 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068290 p.Val133Ile LP/P rs199473449 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068291 p.Cys136Phe LP/P rs199472686 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068292 p.Ile204Phe LP/P rs199472703 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068293 p.Ile235Asn LP/P rs199472710 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068295 p.Arg259Cys LP/P rs199472719 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068296 p.Arg259Leu LP/P rs199472720 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068297 p.Leu273Arg LP/P rs199472727 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068299 p.Tyr278His LP/P rs199472731 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068300 p.Glu290Lys LP/P rs199473464 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068301 p.Gly292Asp LP/P rs199472736 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068302 p.Arg293Cys LP/P rs199472737 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068303 p.Ala302Val LP/P rs193922365 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068304 p.Trp304Arg LP/P rs199473466 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068305 p.Gly314Asp LP/P rs199472748 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068306 p.Gly314Arg LP/P rs120074184 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068307 p.Gly316Arg LP/P rs104894255 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068308 p.Thr322Ala LP/P rs199472754 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068309 p.Pro343Ser LP/P rs199472762 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068310 p.Ala344Glu LP/P rs199472763 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068311 p.Leu374His US rs199472767 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068312 p.Arg380Ser LP/P rs199472771 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068313 p.Ser389Tyr LP/P rs199472773 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068314 p.Arg452Trp US rs140452381 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068315 p.Val524Gly LP/P rs199472790 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068316 p.Lys526Glu LP/P rs199472792 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068317 p.Ser546Leu LP/P rs199473480 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068318 p.Arg555His LP/P rs199472800 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068319 p.Ser566Tyr LP/P rs199472804 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068320 p.Ile567Ser LP/P rs199472805 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068321 p.Gly568Arg LP/P rs199472807 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068322 p.Ala590Thr LP/P rs199472813 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068323 p.Leu619Met LP/P rs199472819 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_068324 p.Gly626Ser LP/P rs199472821 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074687 p.Leu191Pro LP/P rs199473401 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074688 p.Arg243Pro LP/P rs120074196 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074689 p.Trp248Phe LP/P rs397508123 Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400] KCNQ1 P51787 VAR_074690 p.Phe275Ser LP/P rs199472729 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074691 p.Gly306Val LP/P rs199472742 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074692 p.Thr322Met LP/P rs199472755 Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400] KCNQ1 P51787 VAR_074692 p.Thr322Met LP/P rs199472755 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074693 p.Lys557Glu LP/P rs199472801 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074694 p.Asn586Asp LP/P rs199472812 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074927 p.Ala2Val US rs199473442 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074928 p.Pro7Ser US rs199473443 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074929 p.Ala46Thr US rs199473671 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074931 p.Ser66Phe US rs199473446 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074932 p.Pro117Leu US rs120074191 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074933 p.Phe127Leu US rs199472682 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074934 p.Leu134Pro US rs199472685 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074935 p.Leu137Phe US rs199473450 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074936 p.Thr144Ala US rs199473451 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074937 p.Glu146Lys US rs199472688 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074938 p.Thr153Met US rs143709408 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074939 p.Val162Met US rs199472692 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074940 p.Val172Met US rs199472694 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074941 p.Val173Asp LP/P rs199472695 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074942 p.Arg174Pro US rs199472697 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074943 p.Tyr184His US rs199473661 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074944 p.Gly186Arg US rs199473398 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074945 p.Arg190Leu US rs120074178 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074946 p.Arg190Trp US rs199473662 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074947 p.Arg192Pro US rs199472698 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074948 p.Arg195Trp US rs150172393 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074949 p.Ile198Val US rs199472700 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074950 p.Ser199Ala US rs199472701 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074951 p.Asp202His US rs199472702 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074952 p.Ile204Met LP/P rs199473455 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074953 p.Ser209Phe US rs199472704 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074954 p.Val215Met LP/P rs17215479 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074955 p.Thr224Met US rs199472706 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074956 p.Arg231Cys LP/P rs199473457 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074957 p.Arg231His LP/P rs199472709 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074958 p.Leu239Pro US rs199473458 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074959 p.Val241Gly US rs199472711 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074960 p.Leu250Pro US rs199472715 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074961 p.Val254Leu US rs120074179 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074962 p.His258Asn US rs199472717 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074963 p.His258Arg US rs199472718 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074964 p.Arg259His US rs199472720 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074965 p.Leu262Val LP/P rs199472723 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074966 p.Ile268Ser US rs199472725 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074967 p.Gly272Asp LP/P rs199472726 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074968 p.Ile274Val US rs199472728 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074969 p.Ser277Pro US rs199473461 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074970 p.Ser277Trp US rs199472730 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074971 p.Val280Glu LP/P rs199473462 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074972 p.Leu282Pro US rs199472733 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074973 p.Ala283Gly US rs199473463 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074974 p.Ala287Glu US rs199472735 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074975 p.Ala302Glu US rs193922365 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074976 p.Ala302Thr US rs199472739 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074977 p.Leu303Pro US rs199472740 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074978 p.Trp305Arg US rs199472741 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074979 p.Val308Asp US rs199473467 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074980 p.Gly314Cys US rs120074184 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074981 p.Gly316Glu LP/P rs199472749 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074982 p.Gly316Val US rs199472749 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074983 p.Pro320Ser US rs199472753 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074984 p.Phe339Tyr US rs199472759 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074985 p.Ala341Gly US rs12720459 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074986 p.Pro343Leu LP/P rs199472761 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074987 p.Pro343Arg US rs199472761 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074988 p.Ser349Pro US rs199472764 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074989 p.Gly350Arg LP/P rs199472824 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074990 p.Phe351Ser LP/P rs199473402 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074991 p.Lys354Arg US rs199473404 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074992 p.Arg360Met US rs199473407 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074993 p.Arg360Thr US rs199473407 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074994 p.Asn365His US rs199473409 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074995 p.Ala372Asp US rs199473472 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074996 p.Trp379Gly US rs199472768 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074997 p.Glu385Lys US rs199473473 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_074998 p.Ser389Pro US rs199472772 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075000 p.Lys393Met US rs199472775 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075001 p.Arg397Trp US rs199472776 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075002 p.Lys398Arg US rs199472777 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075003 p.Asp446Glu US rs199472780 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075004 p.Pro448Leu US rs12720449 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075005 p.Arg451Trp US rs199472782 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075006 p.Gly460Ser US rs199472783 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075007 p.Pro477Leu US rs199472784 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075008 p.Arg511Trp US rs199472785 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075009 p.Arg518Gly US rs17215500 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075010 p.Arg518Pro US rs145974930 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075011 p.Arg518Gln US rs145974930 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075012 p.Met520Arg US rs199473479 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075013 p.Tyr522Ser US rs199472789 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075014 p.Ala525Val US rs199472791 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075015 p.Arg539Gln US rs199472794 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075016 p.Val541Ile US rs199472796 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075017 p.Glu543Lys US rs199472797 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075018 p.Gln547Arg US rs199472798 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075019 p.Gly548Asp US rs199472799 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075020 p.Val554Ala US rs199473481 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075021 p.Arg555Ser US rs120074185 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075022 p.Ser566Pro US rs199472803 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075023 p.Ile567Thr LP/P rs199472805 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075024 p.Lys569Glu US rs199472808 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075025 p.Ser571Leu US rs199472809 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075026 p.Phe573Leu US rs199472810 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075027 p.Arg583His US rs199473482 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075028 p.Arg591Cys US rs199473483 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075029 p.Arg594Pro US rs199472815 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075030 p.Glu596Lys US rs199472816 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075032 p.Thr600Met US rs34516117 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075033 p.Asp611Asn US rs147445322 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_075035 p.Gly635Arg US rs199473484 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_080331 p.Thr265Ile US rs199472724 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_080332 p.Phe296Ser LP/P rs199472738 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_080333 p.Phe339Ser LP/P rs199472759 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_080334 p.Arg360Gly LP/P rs199473406 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_080335 p.His455Tyr LP/P rs199473476 Long QT syndrome 1 (LQT1) [MIM:192500] KCNQ2 O43526 VAR_010929 p.Arg214Trp LP/P rs28939684 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_010930 p.Tyr284Cys LP/P rs28939683 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_010931 p.Ala306Thr LP/P rs74315390 Developmental and epileptic encephalopathy 7 (DEE7) [MIM:613720] KCNQ2 O43526 VAR_010931 p.Ala306Thr LP/P rs74315390 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_010932 p.Asn780Thr LB/B rs1801475 - KCNQ2 O43526 VAR_026987 p.Arg207Trp LP/P rs74315391 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_026988 p.Met208Val LP/P rs118192201 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_026989 p.His228Gln LP/P rs118192204 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_026990 p.Leu243Phe LP/P rs118192205 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_026991 p.Ser247Trp LP/P rs74315392 Developmental and epileptic encephalopathy 7 (DEE7) [MIM:613720] KCNQ2 O43526 VAR_026992 p.Arg333Gln LP/P rs118192216 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_026993 p.Lys554Asn LP/P rs267607198 Developmental and epileptic encephalopathy 7 (DEE7) [MIM:613720] KCNQ2 O43526 VAR_026993 p.Lys554Asn LP/P rs267607198 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_043819 p.Arg207Gln LB/B rs118192200 - KCNQ2 O43526 VAR_078207 p.Asp266Glu LP/P rs1057519536 Developmental and epileptic encephalopathy 7 (DEE7) [MIM:613720] KCNQ2 O43526 VAR_078208 p.Leu268Phe LP/P rs1057516094 Developmental and epileptic encephalopathy 7 (DEE7) [MIM:613720] KCNQ2 O43526 VAR_078209 p.Arg291Ser LP/P rs1057519535 Developmental and epileptic encephalopathy 7 (DEE7) [MIM:613720] KCNQ2 O43526 VAR_078210 p.Ala294Val LP/P rs118192211 Developmental and epileptic encephalopathy 7 (DEE7) [MIM:613720] KCNQ2 O43526 VAR_078211 p.Gly301Ser LP/P rs1057516099 Developmental and epileptic encephalopathy 7 (DEE7) [MIM:613720] KCNQ2 O43526 VAR_078212 p.Arg581Gln LP/P rs118192235 Developmental and epileptic encephalopathy 7 (DEE7) [MIM:613720] KCNQ2 O43526 VAR_078213 p.Pro777Ser US rs748400155 - KCNQ2 O43526 VAR_078658 p.Thr114Ala LP/P rs1057516076 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_078659 p.Tyr154Asp LP/P rs1057516078 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_078660 p.Gly159Glu LP/P rs1057516081 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_078661 p.Gly159Arg LP/P rs1057516080 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_078662 p.Ala196Val LP/P rs118192199 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_078663 p.Arg201Cys LP/P rs796052623 Developmental and epileptic encephalopathy 7 (DEE7) [MIM:613720] KCNQ2 O43526 VAR_078665 p.Arg210Cys LP/P rs796052626 Developmental and epileptic encephalopathy 7 (DEE7) [MIM:613720] KCNQ2 O43526 VAR_078666 p.Arg213Gln LP/P rs397514581 Developmental and epileptic encephalopathy 7 (DEE7) [MIM:613720] KCNQ2 O43526 VAR_078666 p.Arg213Gln LP/P rs397514581 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_078667 p.Arg213Trp US rs118192203 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_078668 p.Thr217Ala LP/P rs1057516089 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_078669 p.Thr234Pro LP/P rs1057516091 Developmental and epileptic encephalopathy 7 (DEE7) [MIM:613720] KCNQ2 O43526 VAR_078670 p.Thr276Ile LP/P rs1057516095 Developmental and epileptic encephalopathy 7 (DEE7) [MIM:613720] KCNQ2 O43526 VAR_078671 p.Arg353Gly LP/P rs118192218 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_078672 p.Ser358Phe LP/P rs1057516110 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_078674 p.Arg547Trp LP/P rs796052650 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_078675 p.Pro561Ser LP/P - Developmental and epileptic encephalopathy 7 (DEE7) [MIM:613720] KCNQ2 O43526 VAR_078677 p.Met578Val LP/P rs1057516123 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_078679 p.Arg588Ser LP/P rs118192237 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_078680 p.Leu637Arg LP/P rs118192240 Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] KCNQ3 O43525 VAR_001546 p.Gly310Val LP/P rs118192250 Seizures, benign familial neonatal 2 (BFNS2) [MIM:121201] KCNQ3 O43525 VAR_010935 p.Trp309Arg LP/P rs118192249 Seizures, benign familial neonatal 2 (BFNS2) [MIM:121201] KCNQ3 O43525 VAR_026994 p.Asp305Gly LP/P rs118192248 Seizures, benign familial neonatal 2 (BFNS2) [MIM:121201] KCNQ3 O43525 VAR_026995 p.Asn468Ser LB/B rs118192252 - KCNQ3 O43525 VAR_053859 p.Glu414Gly LB/B rs2303995 - KCNQ3 O43525 VAR_072741 p.Pro574Ser US rs74582884 - KCNQ3 O43525 VAR_078681 p.Gly340Val US - Seizures, benign familial neonatal 2 (BFNS2) [MIM:121201] KCNQ3 O43525 VAR_078682 p.Arg780Cys US rs138852641 - KCNQ4 P56696 VAR_001547 p.Gly285Ser LP/P rs28937588 Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101] KCNQ4 P56696 VAR_008726 p.Trp276Ser LP/P rs80358277 Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101] KCNQ4 P56696 VAR_008727 p.Gly285Cys LP/P rs28937588 Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101] KCNQ4 P56696 VAR_008728 p.Gly321Ser LP/P rs28939710 Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101] KCNQ4 P56696 VAR_010936 p.Leu274His LP/P rs80358276 Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101] KCNQ4 P56696 VAR_010937 p.Leu281Ser LP/P rs80358278 Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101] KCNQ4 P56696 VAR_058971 p.His455Gln LB/B rs34287852 - KCNQ4 P56696 VAR_065779 p.Gly287Arg LP/P rs137853969 Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101] KCNQ5 Q9NR82 VAR_035772 p.Trp191Gly US - A colorectal cancer sample KCNQ5 Q9NR82 VAR_035773 p.Arg244Cys US rs1314919218 A colorectal cancer sample KCNQ5 Q9NR82 VAR_079219 p.Val145Gly LP/P rs1135401955 Intellectual developmental disorder, autosomal dominant 46 (MRD46) [MIM:617601] KCNQ5 Q9NR82 VAR_079220 p.Leu341Ile LP/P rs1135401956 Intellectual developmental disorder, autosomal dominant 46 (MRD46) [MIM:617601] KCNQ5 Q9NR82 VAR_079221 p.Pro369Arg LP/P rs1135401958 Intellectual developmental disorder, autosomal dominant 46 (MRD46) [MIM:617601] KCNQ5 Q9NR82 VAR_079222 p.Ser429Ile LP/P rs1135401957 Intellectual developmental disorder, autosomal dominant 46 (MRD46) [MIM:617601] KCNS1 Q96KK3 VAR_020052 p.Ile489Val LB/B rs734784 - KCNS1 Q96KK3 VAR_053867 p.Gln508Arg LB/B rs7264544 - KCNS3 Q9BQ31 VAR_014200 p.Thr450Ala LB/B rs4832524 - KCNS3 Q9BQ31 VAR_036986 p.Val225Leu LB/B rs17856097 - KCNT1 Q5JUK3 VAR_069311 p.Arg379Gln LP/P rs397515407 Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005] KCNT1 Q5JUK3 VAR_069312 p.Arg409Gln LP/P rs397515402 Developmental and epileptic encephalopathy 14 (DEE14) [MIM:614959] KCNT1 Q5JUK3 VAR_069313 p.Arg455His LP/P rs397515404 Developmental and epileptic encephalopathy 14 (DEE14) [MIM:614959] KCNT1 Q5JUK3 VAR_069314 p.Ile741Met LP/P rs370521183 Developmental and epileptic encephalopathy 14 (DEE14) [MIM:614959] KCNT1 Q5JUK3 VAR_069315 p.Tyr777His LP/P rs397515406 Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005] KCNT1 Q5JUK3 VAR_069316 p.Met877Ile LP/P rs797044544 Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005] KCNT1 Q5JUK3 VAR_069317 p.Arg909Cys LP/P rs397515405 Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005] KCNT1 Q5JUK3 VAR_069318 p.Ala915Thr LP/P rs397515403 Developmental and epileptic encephalopathy 14 (DEE14) [MIM:614959] KCNT1 Q5JUK3 VAR_078214 p.Met497Val LP/P rs886041691 Developmental and epileptic encephalopathy 14 (DEE14) [MIM:614959] KCNT1 Q5JUK3 VAR_078215 p.Lys928Glu LP/P rs1057519544 Developmental and epileptic encephalopathy 14 (DEE14) [MIM:614959] KCNT1 Q5JUK3 VAR_078641 p.Thr562Ile US rs1185192267 Developmental and epileptic encephalopathy 14 (DEE14) [MIM:614959] KCNT1 Q5JUK3 VAR_078642 p.Arg1088Gln US rs758311066 Developmental and epileptic encephalopathy 14 (DEE14) [MIM:614959] KCNT1 Q5JUK3 VAR_078683 p.Gly269Ser LP/P rs587777264 Developmental and epileptic encephalopathy 14 (DEE14) [MIM:614959] KCNT1 Q5JUK3 VAR_078684 p.Met877Lys US - Developmental and epileptic encephalopathy 14 (DEE14) [MIM:614959] KCNT1 Q5JUK3 VAR_078685 p.Ala947Thr LP/P rs1424788778 Developmental and epileptic encephalopathy 14 (DEE14) [MIM:614959] KCNT2 Q6UVM3 VAR_037527 p.Val33Ile US - A breast cancer sample KCNT2 Q6UVM3 VAR_037528 p.Cys413Trp LB/B rs12738104 - KCNT2 Q6UVM3 VAR_037529 p.Lys429Asn LB/B rs12742082 - KCNT2 Q6UVM3 VAR_080867 p.Phe240Leu LP/P rs1060499537 Developmental and epileptic encephalopathy 57 (DEE57) [MIM:617771] KCNU1 A8MYU2 VAR_053868 p.Trp768Arg LB/B rs28608091 - KCNU1 A8MYU2 VAR_053869 p.Asn916Ser LB/B rs16885577 - KCNU1 A8MYU2 VAR_060148 p.Asp175Asn LB/B rs1111125 - KCNU1 A8MYU2 VAR_088020 p.Ile413Phe LP/P rs377269265 Spermatogenic failure 79 (SPGF79) [MIM:620196] KCNU1 A8MYU2 VAR_088021 p.His715Arg LP/P - Spermatogenic failure 79 (SPGF79) [MIM:620196] KCNV1 Q6PIU1 VAR_036804 p.Asp22Gly LB/B rs17852611 - KCNV2 Q8TDN2 VAR_027632 p.Leu126Gln LP/P rs776275880 Cone dystrophy retinal 3B (RCD3B) [MIM:610356] KCNV2 Q8TDN2 VAR_027633 p.Trp188Cys LP/P rs772921412 Cone dystrophy retinal 3B (RCD3B) [MIM:610356] KCNV2 Q8TDN2 VAR_027634 p.Ser256Trp LP/P rs104894116 Cone dystrophy retinal 3B (RCD3B) [MIM:610356] KCNV2 Q8TDN2 VAR_027635 p.Ala259Val LP/P - Cone dystrophy retinal 3B (RCD3B) [MIM:610356] KCNV2 Q8TDN2 VAR_027637 p.Gly459Asp LP/P rs104894115 Cone dystrophy retinal 3B (RCD3B) [MIM:610356] KCNV2 Q8TDN2 VAR_027638 p.Leu533Val LB/B rs12352254 - KCNV2 Q8TDN2 VAR_087564 p.Arg244Pro LP/P rs1023306854 Cone dystrophy retinal 3B (RCD3B) [MIM:610356] KCP Q6ZWJ8 VAR_038783 p.Gly47Glu LB/B rs7787221 - KCP Q6ZWJ8 VAR_059625 p.Lys459Glu LB/B rs7782976 - KCP Q6ZWJ8 VAR_059626 p.Asp688Val LB/B rs3734971 - KCP Q6ZWJ8 VAR_059627 p.Pro1193Arg LB/B rs7786641 - KCTD1 Q719H9 VAR_049722 p.Leu107Trp LB/B rs491684 - KCTD1 Q719H9 VAR_069971 p.Ala30Glu LP/P rs587776998 Scalp-ear-nipple syndrome (SENS) [MIM:181270] KCTD1 Q719H9 VAR_069972 p.Pro31Leu LP/P rs587776999 Scalp-ear-nipple syndrome (SENS) [MIM:181270] KCTD1 Q719H9 VAR_069973 p.Pro31Arg LP/P rs587776999 Scalp-ear-nipple syndrome (SENS) [MIM:181270] KCTD1 Q719H9 VAR_069974 p.Pro31Ser LP/P - Scalp-ear-nipple syndrome (SENS) [MIM:181270] KCTD1 Q719H9 VAR_069975 p.His33Pro LP/P rs587777001 Scalp-ear-nipple syndrome (SENS) [MIM:181270] KCTD1 Q719H9 VAR_069976 p.His33Gln LP/P rs587777000 Scalp-ear-nipple syndrome (SENS) [MIM:181270] KCTD1 Q719H9 VAR_069977 p.Gly62Asp LP/P rs587777003 Scalp-ear-nipple syndrome (SENS) [MIM:181270] KCTD1 Q719H9 VAR_069978 p.His74Pro LP/P rs587777002 Scalp-ear-nipple syndrome (SENS) [MIM:181270] KCTD11 Q693B1 VAR_027354 p.Gly22Ser LB/B rs8080182 - KCTD13 Q8WZ19 VAR_080045 p.Asp200Asn US rs774536350 - KCTD15 Q96SI1 VAR_027090 p.Gly64Ser LB/B rs17849437 - KCTD17 Q8N5Z5 VAR_027157 p.Arg44Gly LB/B rs17852877 - KCTD17 Q8N5Z5 VAR_073806 p.Arg138His LP/P rs786205860 Dystonia 26, myoclonic (DYT26) [MIM:616398] KCTD18 Q6PI47 VAR_027355 p.Ala333Val LB/B rs13018579 - KCTD18 Q6PI47 VAR_027356 p.Gly336Cys LB/B rs10203154 - KCTD18 Q6PI47 VAR_027357 p.Cys390Ser LB/B rs3795969 - KCTD18 Q6PI47 VAR_027358 p.Ala413Val LB/B rs10203042 - KCTD19 Q17RG1 VAR_049723 p.Glu750Lys LB/B rs16957289 - KCTD20 Q7Z5Y7 VAR_028854 p.Ser171Thr LB/B rs2239808 - KCTD3 Q9Y597 VAR_027156 p.Phe9Val LB/B rs2275768 - KCTD7 Q96MP8 VAR_068775 p.Arg84Trp LB/B rs754476100 - KCTD7 Q96MP8 VAR_068776 p.Arg94Trp LP/P rs387907260 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726] KCTD7 Q96MP8 VAR_068777 p.Leu108Met LP/P rs387907263 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726] KCTD7 Q96MP8 VAR_068778 p.Asp115Tyr US rs387907262 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726] KCTD7 Q96MP8 VAR_068779 p.Arg184Cys LP/P rs387907246 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726] KCTD7 Q96MP8 VAR_068780 p.Asn273Ile LP/P rs387907261 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726] KCTD8 Q6ZWB6 VAR_027692 p.Pro329Leu LB/B rs13115990 - KDELR2 P33947 VAR_085601 p.Arg5Trp US rs1265005474 Osteogenesis imperfecta 21 (OI21) [MIM:619131] KDELR2 P33947 VAR_085602 p.His12Asp LP/P rs1785976222 Osteogenesis imperfecta 21 (OI21) [MIM:619131] KDELR2 P33947 VAR_085604 p.Pro133Leu US rs1785501859 Osteogenesis imperfecta 21 (OI21) [MIM:619131] KDELR2 P33947 VAR_085605 p.Tyr162Cys US - Osteogenesis imperfecta 21 (OI21) [MIM:619131] KDELR3 O43731 VAR_014506 p.Val199Gly LB/B rs12004 - KDF1 Q8NAX2 VAR_032561 p.Gln100Arg LB/B rs17360994 - KDF1 Q8NAX2 VAR_032562 p.Arg107Trp LB/B rs3010109 - KDF1 Q8NAX2 VAR_032563 p.Lys189Arg LB/B rs34291506 - KDF1 Q8NAX2 VAR_035616 p.Arg312His US rs755094201 A colorectal cancer sample KDF1 Q8NAX2 VAR_078070 p.Phe251Leu US rs1057519508 Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (ECTD12) [MIM:617337] KDM1A O60341 VAR_076366 p.Glu379Lys LP/P rs864309715 Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] KDM1A O60341 VAR_076367 p.Asp556Gly LP/P rs864309716 Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] KDM1A O60341 VAR_076368 p.Tyr761His LP/P rs864309714 Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] KDM3A Q9Y4C1 VAR_026220 p.Ile212Val LB/B rs2030259 - KDM3A Q9Y4C1 VAR_030623 p.Glu194Lys LB/B rs13424350 - KDM3A Q9Y4C1 VAR_030624 p.Val710Glu LB/B rs11677451 - KDM3A Q9Y4C1 VAR_035940 p.Asp187His US - A breast cancer sample KDM3A Q9Y4C1 VAR_055977 p.Ser447Pro LB/B rs34605051 - KDM3B Q7LBC6 VAR_026221 p.Ala256Thr LB/B rs6865472 - KDM3B Q7LBC6 VAR_026222 p.Ser1201Asn LB/B rs7706614 - KDM3B Q7LBC6 VAR_083999 p.Trp117Arg LP/P - Diets-Jongmans syndrome (DIJOS) [MIM:618846] KDM3B Q7LBC6 VAR_084000 p.Asp336Gly US rs1762257015 Diets-Jongmans syndrome (DIJOS) [MIM:618846] KDM3B Q7LBC6 VAR_084002 p.Arg943Gln LP/P rs1334033128 Diets-Jongmans syndrome (DIJOS) [MIM:618846] KDM3B Q7LBC6 VAR_084003 p.Arg943Trp LP/P - Diets-Jongmans syndrome (DIJOS) [MIM:618846] KDM3B Q7LBC6 VAR_084004 p.Arg1028Gln LP/P - Diets-Jongmans syndrome (DIJOS) [MIM:618846] KDM3B Q7LBC6 VAR_084005 p.Asp1032Val LP/P rs1762639635 Diets-Jongmans syndrome (DIJOS) [MIM:618846] KDM3B Q7LBC6 VAR_084006 p.Leu1509Pro LP/P - Diets-Jongmans syndrome (DIJOS) [MIM:618846] KDM3B Q7LBC6 VAR_084008 p.Tyr1544Cys US - Diets-Jongmans syndrome (DIJOS) [MIM:618846] KDM3B Q7LBC6 VAR_084009 p.Glu1731Lys US rs1763530961 Diets-Jongmans syndrome (DIJOS) [MIM:618846] KDM3B Q7LBC6 VAR_084010 p.Leu1734Arg LP/P - Diets-Jongmans syndrome (DIJOS) [MIM:618846] KDM4A O75164 VAR_023775 p.Ala482Glu LB/B rs586339 - KDM4A O75164 VAR_031217 p.Val877Gly LB/B rs12759032 - KDM4B O94953 VAR_026223 p.Asn29Thr LB/B rs11667206 - KDM4B O94953 VAR_026224 p.Lys710Glu LB/B rs2620836 - KDM4B O94953 VAR_085967 p.Leu220Pro LP/P - Intellectual developmental disorder, autosomal dominant 65 (MRD65) [MIM:619320] KDM4B O94953 VAR_085968 p.Arg222Trp LP/P - Intellectual developmental disorder, autosomal dominant 65 (MRD65) [MIM:619320] KDM4B O94953 VAR_085969 p.His768Arg LP/P - Intellectual developmental disorder, autosomal dominant 65 (MRD65) [MIM:619320] KDM4B O94953 VAR_085970 p.Pro1095Leu US - Intellectual developmental disorder, autosomal dominant 65 (MRD65) [MIM:619320] KDM4C Q9H3R0 VAR_020340 p.Asp396Asn LB/B rs2296067 - KDM4C Q9H3R0 VAR_024681 p.Gln767Glu LB/B rs1407856 - KDM4C Q9H3R0 VAR_024682 p.Val1039Ile LB/B rs913588 - KDM4C Q9H3R0 VAR_049660 p.Glu206Asp LB/B rs7864351 - KDM4C Q9H3R0 VAR_049661 p.Ser492Thr LB/B rs35826653 - KDM4C Q9H3R0 VAR_049662 p.Asn697Ser LB/B rs35389625 - KDM4C Q9H3R0 VAR_049663 p.Lys772Arg LB/B rs1417290 - KDM4D Q6B0I6 VAR_026225 p.Arg408Gln LB/B rs3740853 - KDM4D Q6B0I6 VAR_057882 p.Ser355Arg LB/B rs35631512 - KDM4D Q6B0I6 VAR_057883 p.Ala471Ser LB/B rs34366036 - KDM4E B2RXH2 VAR_063402 p.Ala26Thr LB/B rs12798990 - KDM4E B2RXH2 VAR_063403 p.Gln42Arg LB/B rs2257265 - KDM4E B2RXH2 VAR_063404 p.Gln113Arg LB/B rs10752685 - KDM4E B2RXH2 VAR_063405 p.Phe258Ser LB/B rs16921260 - KDM5A P29375 VAR_032984 p.Met865Thr LB/B rs11062385 - KDM5A P29375 VAR_032985 p.Pro1190Ala LB/B rs2229353 - KDM5C P41229 VAR_022730 p.Ala388Pro LP/P rs199422235 Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_022731 p.Asp402Tyr LP/P - Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_022732 p.Glu698Lys LP/P rs1057517955 Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_022733 p.Leu731Phe LP/P rs199422234 Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_032986 p.Asp87Gly LP/P - Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_032987 p.Ser451Arg LP/P rs199422237 Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_032988 p.Phe642Leu LP/P - Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_032989 p.Arg750Trp LP/P - Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_032990 p.Tyr751Cys LP/P - Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_065091 p.Cys640Tyr US - - KDM5C P41229 VAR_074308 p.Pro480Leu LP/P rs1057518697 Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5D Q9BY66 VAR_032991 p.Val1186Leu LB/B rs1050807 - KDM6A O15550 VAR_014492 p.Ala30Thr LB/B rs6529 - KDM6A O15550 VAR_014493 p.Gln497His LB/B rs6530 - KDM6A O15550 VAR_020313 p.Thr726Lys LB/B rs2230018 - KDM6A O15550 VAR_035871 p.Leu1106Arg US - A colorectal cancer sample KDM6A O15550 VAR_046527 p.Thr581Ala LB/B rs34922269 - KDM6A O15550 VAR_067225 p.Ile270Val US - A patient with chronic myelomonocytic leukemia KDM6A O15550 VAR_067226 p.Glu834Asp US - A patient with chronic myelomonocytic leukemia KDM6A O15550 VAR_067227 p.Arg922Lys US - A patient with chronic myelomonocytic leukemia KDM6B O15054 VAR_032927 p.Ser308Leu LB/B rs2270516 - KDM6B O15054 VAR_061670 p.Pro203Ala LB/B rs60738318 - KDM6B O15054 VAR_083123 p.Asn1331Ser LP/P rs1567802147 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities (NEDCFSA) [MIM:618505] KDM6B O15054 VAR_083124 p.Tyr1379Ser LP/P rs1567802439 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities (NEDCFSA) [MIM:618505] KDM7A Q6ZMT4 VAR_049653 p.Arg644Ser LB/B rs6950119 - KDM8 Q8N371 VAR_032928 p.Glu302Asp LB/B rs34445573 - KDR P35968 VAR_020353 p.Gln472His LB/B rs1870377 - KDR P35968 VAR_022071 p.Val297Ile LB/B rs2305948 - KDR P35968 VAR_036126 p.Arg275Leu US - A colorectal cancer sample KDR P35968 VAR_036127 p.Gly873Arg US - A colorectal cancer sample KDR P35968 VAR_042053 p.Gln2Arg US - A lung adenocarcinoma sample KDR P35968 VAR_042054 p.Val136Met LB/B rs35636987 - KDR P35968 VAR_042055 p.Ala248Gly US - A renal clear cell carcinoma sample KDR P35968 VAR_042056 p.Leu462Val LB/B rs56286620 - KDR P35968 VAR_042057 p.Cys482Arg LB/B rs34231037 - KDR P35968 VAR_042058 p.Gly539Arg LB/B rs55716939 - KDR P35968 VAR_042059 p.Thr689Met LB/B rs34038364 - KDR P35968 VAR_042060 p.Asp814Asn LB/B rs35603373 - KDR P35968 VAR_042061 p.Ala1065Thr LB/B rs56302315 - KDR P35968 VAR_046679 p.Val848Glu LB/B rs1139776 - KDR P35968 VAR_046680 p.Val952Ile LB/B rs13129474 - KDR P35968 VAR_063147 p.Pro1147Ser LP/P rs121917766 Hemangioma, capillary infantile (HCI) [MIM:602089] KDSR Q06136 VAR_079187 p.Tyr186Phe LP/P rs1114167452 Erythrokeratodermia variabilis et progressiva 4 (EKVP4) [MIM:617526] KEAP1 Q14145 VAR_032102 p.Val167Phe US - A lung adenocarcinoma patient KEAP1 Q14145 VAR_032103 p.Asp236His US - - KEAP1 Q14145 VAR_032104 p.Gln284Leu US - A lung adenocarcinoma patient KEAP1 Q14145 VAR_032105 p.Gly333Cys US - - KEAP1 Q14145 VAR_032106 p.Asp349Asn LB/B rs1048289 - KEAP1 Q14145 VAR_032107 p.Gly350Ser LB/B rs777308626 - KEAP1 Q14145 VAR_032108 p.Gly364Cys US rs1397945617 A lung adenocarcinoma cell line KEAP1 Q14145 VAR_032109 p.Gly430Cys US - A lung adenocarcinoma patient KEAP1 Q14145 VAR_036084 p.Cys23Tyr US - A breast cancer sample KEAP1 Q14145 VAR_036085 p.Ala522Val US - A breast cancer sample KEL P23276 VAR_006731 p.Arg180Pro LB/B rs61729039 - KEL P23276 VAR_006732 p.Thr193Met LB/B rs8176058 - KEL P23276 VAR_006733 p.Arg281Trp LB/B rs8176059 - KEL P23276 VAR_006734 p.Arg281Gln LB/B rs61729036 - KEL P23276 VAR_006735 p.Val302Ala LB/B rs61729034 - KEL P23276 VAR_006736 p.Glu494Val LB/B rs61729032 - KEL P23276 VAR_006737 p.Leu597Pro LB/B rs8176038 - KEL P23276 VAR_015120 p.Arg248Gln LB/B rs61729040 - KEL P23276 VAR_015121 p.Glu249Lys LB/B rs61729042 - KEL P23276 VAR_015122 p.Ala322Val LB/B rs61729037 - KEL P23276 VAR_015123 p.Gln382Arg LB/B rs61729038 - KEL P23276 VAR_015124 p.Arg406Gln LB/B rs61729041 - KEL P23276 VAR_015125 p.Arg492Gln LB/B rs61729035 - KEL P23276 VAR_015126 p.His548Arg LB/B rs61729033 - KEL P23276 VAR_016265 p.Ala163Thr LB/B rs8175974 - KEL P23276 VAR_016266 p.Ser726Ala LB/B rs8176048 - KERA O60938 VAR_012753 p.Thr215Lys LP/P rs121917862 Cornea plana 2, autosomal recessive (CNA2) [MIM:217300] KERA O60938 VAR_012754 p.Asn247Ser LP/P rs121917858 Cornea plana 2, autosomal recessive (CNA2) [MIM:217300] KERA O60938 VAR_013564 p.Val235Gly LB/B rs737111 - KHDC3L Q587J8 VAR_054052 p.Glu97Gln US rs564533 Hydatidiform mole, recurrent, 2 (HYDM2) [MIM:614293] KHDC3L Q587J8 VAR_054053 p.Ala201Gly US rs561930 Hydatidiform mole, recurrent, 2 (HYDM2) [MIM:614293] KHDC3L Q587J8 VAR_085059 p.Arg5Lys US rs144291287 Hydatidiform mole, recurrent, 2 (HYDM2) [MIM:614293] KHDRBS2 Q5VWX1 VAR_036885 p.Gly308Ala LB/B rs7449840 - KHK P50053 VAR_006072 p.Gly40Arg LP/P rs104893643 Fructosuria (FRUCT) [MIM:229800] KHK P50053 VAR_006073 p.Ala43Thr LP/P rs104893644 Fructosuria (FRUCT) [MIM:229800] KHK P50053 VAR_006074 p.Val49Ile LB/B rs2304681 - KHNYN O15037 VAR_030843 p.Lys261Thr LB/B rs3742520 - KHNYN O15037 VAR_030844 p.Trp270Leu LB/B rs7151995 - KIAA0087 Q14695 VAR_044539 p.Ser85Asn LB/B rs740182 - KIAA0319 Q5VV43 VAR_023837 p.Thr142Pro LB/B rs4576240 - KIAA0319 Q5VV43 VAR_023838 p.Ala311Thr LB/B rs4504469 - KIAA0319 Q5VV43 VAR_034032 p.Gly919Ala LB/B rs10946705 - KIAA0319 Q5VV43 VAR_049505 p.Gly567Ser LB/B rs2744559 - KIAA0319 Q5VV43 VAR_049506 p.Ser773Gly LB/B rs2744550 - KIAA0319 Q5VV43 VAR_049507 p.Val774Ala LB/B rs2817191 - KIAA0319 Q5VV43 VAR_049508 p.Tyr1013Cys LB/B rs807534 - KIAA0319L Q8IZA0 VAR_042644 p.Gly243Asp LB/B rs1635712 - KIAA0319L Q8IZA0 VAR_042645 p.Gln837His LB/B rs1361040 - KIAA0408 Q6ZU52 VAR_027082 p.Ser61Arg LB/B rs3734447 - KIAA0408 Q6ZU52 VAR_049510 p.Ser331Leu LB/B rs2236026 - KIAA0513 O60268 VAR_034035 p.Arg100His LB/B rs4783121 - KIAA0586 Q9BVV6 VAR_069108 p.Leu828Pro LB/B rs1748986 - KIAA0586 Q9BVV6 VAR_074596 p.Asp566Val LP/P - Joubert syndrome 23 (JBTS23) [MIM:616490] KIAA0586 Q9BVV6 VAR_076328 p.Arg403Lys US rs772739103 Joubert syndrome 23 (JBTS23) [MIM:616490] KIAA0753 Q2KHM9 VAR_031065 p.His201Gln LB/B rs16955985 - KIAA0753 Q2KHM9 VAR_031066 p.Glu375Asp LB/B rs9889363 - KIAA0753 Q2KHM9 VAR_031067 p.Glu375Gly LB/B rs17794522 - KIAA0753 Q2KHM9 VAR_031068 p.Asp444Asn LB/B rs2289643 - KIAA0753 Q2KHM9 VAR_031069 p.Leu466Pro LB/B rs2289642 - KIAA0753 Q2KHM9 VAR_031070 p.Val501Met LB/B rs11868877 - KIAA0753 Q2KHM9 VAR_031071 p.Pro566Leu LB/B rs2304977 - KIAA0753 Q2KHM9 VAR_031072 p.Gln896Arg LB/B rs1443417 - KIAA0753 Q2KHM9 VAR_079381 p.Arg257Gly US - Joubert syndrome 38 (JBTS38) [MIM:619476] KIAA0825 Q8IV33 VAR_038391 p.Lys46Glu LB/B rs2044909 - KIAA1143 Q96AT1 VAR_027272 p.Ile139Met LB/B rs3853404 - KIAA1210 Q9ULL0 VAR_061243 p.Gly103Val LB/B rs5910522 - KIAA1210 Q9ULL0 VAR_061244 p.Leu419Phe LB/B rs35613130 - KIAA1210 Q9ULL0 VAR_061245 p.Pro844Ala LB/B rs7063611 - KIAA1210 Q9ULL0 VAR_061246 p.Glu852Ala LB/B rs7050904 - KIAA1210 Q9ULL0 VAR_061247 p.Ile945Phe LB/B rs3761592 - KIAA1210 Q9ULL0 VAR_061248 p.Arg1032Trp LB/B rs17335909 - KIAA1210 Q9ULL0 VAR_061249 p.Glu1616Gly LB/B rs2305570 - KIAA1210 Q9ULL0 VAR_076260 p.Val208Phe LB/B rs201254782 - KIAA1210 Q9ULL0 VAR_077001 p.Gln1568Glu LB/B - - KIAA1217 Q5T5P2 VAR_051358 p.Ala145Gly LB/B rs17506606 - KIAA1217 Q5T5P2 VAR_051359 p.Ala887Thr LB/B rs10828663 - KIAA1217 Q5T5P2 VAR_051360 p.Pro1362Ala LB/B rs16924863 - KIAA1328 Q86T90 VAR_037483 p.Arg383Cys LB/B rs12326301 - KIAA1549 Q9HCM3 VAR_044187 p.Ala448Pro LB/B rs2718131 - KIAA1549 Q9HCM3 VAR_044188 p.Val851Gly LB/B rs2354336 - KIAA1549 Q9HCM3 VAR_057812 p.Pro652Leu LB/B rs2774960 - KIAA1549 Q9HCM3 VAR_083316 p.His1562Gln US rs776206391 Retinitis pigmentosa 86 (RP86) [MIM:618613] KIAA1586 Q9HCI6 VAR_039276 p.Phe75Leu LB/B rs36113897 - KIAA1586 Q9HCI6 VAR_039277 p.Val81Met LB/B rs6926980 - KIAA1614 Q5VZ46 VAR_037682 p.His214Tyr LB/B rs3747959 - KIAA1614 Q5VZ46 VAR_037683 p.Arg740Trp LB/B rs17302207 - KIAA1614 Q5VZ46 VAR_037684 p.Leu801Phe LB/B rs3795504 - KIAA1614 Q5VZ46 VAR_037685 p.Asn1078Asp LB/B rs2331995 - KIAA1614 Q5VZ46 VAR_063118 p.Leu64Pro LB/B rs10732273 - KIAA1755 Q5JYT7 VAR_038501 p.Lys339Asn LB/B rs1205434 - KIAA1755 Q5JYT7 VAR_038502 p.Pro415Leu LB/B rs6024235 - KIAA1755 Q5JYT7 VAR_038503 p.Ala633Val LB/B rs16987188 - KIAA1755 Q5JYT7 VAR_038504 p.Glu940Lys LB/B rs760998 - KIAA1755 Q5JYT7 VAR_038505 p.Arg1045Trp LB/B rs3746471 - KICS2 Q96MD2 VAR_039371 p.Ile139Met LB/B rs2335390 - KICS2 Q96MD2 VAR_039372 p.Ala443Ser LB/B rs699638 - KIDINS220 Q9ULH0 VAR_039399 p.Arg1307His LB/B rs2304591 - KIDINS220 Q9ULH0 VAR_039400 p.Gln1608His LB/B rs1044280 - KIDINS220 Q9ULH0 VAR_048285 p.Ile538Thr LB/B rs2289229 - KIF11 P52732 VAR_049682 p.Leu1042Phe LB/B rs34417963 - KIF11 P52732 VAR_067829 p.Phe144Leu LP/P - Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development (MCLMR) [MIM:152950] KIF11 P52732 VAR_067830 p.Arg234Cys LP/P - Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development (MCLMR) [MIM:152950] KIF11 P52732 VAR_067831 p.Ser235Cys LP/P rs387906643 Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development (MCLMR) [MIM:152950] KIF11 P52732 VAR_067832 p.Arg944Cys LP/P rs387906642 Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development (MCLMR) [MIM:152950] KIF12 Q96FN5 VAR_086703 p.Val337Met US - Cholestasis, progressive familial intrahepatic, 8 (PFIC8) [MIM:619662] KIF12 Q96FN5 VAR_086705 p.Arg352Gln US - Cholestasis, progressive familial intrahepatic, 8 (PFIC8) [MIM:619662] KIF13A Q9H1H9 VAR_029389 p.Met1415Val LB/B rs17689215 - KIF13A Q9H1H9 VAR_049699 p.Phe1600Ser LB/B rs12211658 - KIF13B Q9NQT8 VAR_055982 p.Val1471Ile LB/B rs17526980 - KIF14 Q15058 VAR_037777 p.Pro1633Ala LB/B rs12120084 - KIF14 Q15058 VAR_080624 p.Gly459Arg US - Microcephaly 20, primary, autosomal recessive (MCPH20) [MIM:617914] KIF14 Q15058 VAR_080626 p.Ser841Phe US rs139385693 Microcephaly 20, primary, autosomal recessive (MCPH20) [MIM:617914] KIF14 Q15058 VAR_080627 p.His849Asp LP/P rs1553259528 Microcephaly 20, primary, autosomal recessive (MCPH20) [MIM:617914] KIF14 Q15058 VAR_080628 p.Gly1221Val LP/P - Microcephaly 20, primary, autosomal recessive (MCPH20) [MIM:617914] KIF15 Q9NS87 VAR_042464 p.Ala211Val LB/B rs34862960 - KIF15 Q9NS87 VAR_042465 p.Thr996Ser LB/B rs11710339 - KIF15 Q9NS87 VAR_042466 p.Leu1206Met LB/B rs3804583 - KIF15 Q9NS87 VAR_042467 p.Glu1272Asp LB/B rs17076986 - KIF16B Q96L93 VAR_019396 p.Arg824Ser LB/B rs2236144 - KIF16B Q96L93 VAR_019397 p.Met1027Thr LB/B rs6034464 - KIF16B Q96L93 VAR_019398 p.Asn1119Ser LB/B rs8123195 - KIF16B Q96L93 VAR_036218 p.Lys772Thr US - A breast cancer sample KIF16B Q96L93 VAR_049700 p.Gly810Arg LB/B rs2236145 - KIF16B Q96L93 VAR_065248 p.Lys999Asn LB/B rs8116503 - KIF17 Q9P2E2 VAR_023527 p.Val402Met LB/B rs522496 - KIF17 Q9P2E2 VAR_023528 p.Asp933Glu LB/B rs631357 - KIF17 Q9P2E2 VAR_055983 p.Ile341Val LB/B rs2296225 - KIF17 Q9P2E2 VAR_055984 p.Val675Ile LB/B rs558760 - KIF17 Q9P2E2 VAR_055985 p.Val735Ile LB/B rs13375609 - KIF17 Q9P2E2 VAR_061282 p.Ser369Arg LB/B rs56750936 - KIF18A Q8NI77 VAR_038354 p.Ile735Val LB/B rs10458896 - KIF18A Q8NI77 VAR_049701 p.Thr273Ala LB/B rs12272419 - KIF18A Q8NI77 VAR_049702 p.Pro334Ser LB/B rs34913484 - KIF18B Q86Y91 VAR_038925 p.Gln506Arg LB/B rs17546822 - KIF19 Q2TAC6 VAR_030719 p.Arg471Trp LB/B rs2382644 - KIF19 Q2TAC6 VAR_049703 p.Leu937Pro LB/B rs9891620 - KIF19 Q2TAC6 VAR_059371 p.Arg807His LB/B rs2271535 - KIF19 Q2TAC6 VAR_061283 p.Arg974Gln LB/B rs9675190 - KIF1A Q12756 VAR_066649 p.Thr99Met LP/P rs387906799 NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_066650 p.Ala255Val LP/P rs387906798 Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_075471 p.Thr46Met LB/B rs182395595 - KIF1A Q12756 VAR_075472 p.Ser58Leu LP/P rs672601362 NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_075473 p.Gly102Asp LP/P rs672601363 NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_075474 p.Asp136Asn LB/B rs374178011 - KIF1A Q12756 VAR_075475 p.Val144Phe LP/P rs672601364 NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_075476 p.Arg167Cys LP/P rs672601365 NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_075476 p.Arg167Cys LP/P rs672601365 Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_075477 p.Thr187Ile LB/B rs370623844 - KIF1A Q12756 VAR_075478 p.Ala202Pro LP/P rs672601366 NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_075479 p.Val205Met LB/B rs371039513 - KIF1A Q12756 VAR_075480 p.Ser215Arg LP/P rs672601367 NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_075481 p.Arg216Cys LP/P rs797045164 NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_075482 p.Arg216His LP/P rs672601368 NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_075483 p.Arg216Pro LP/P rs672601368 NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_075484 p.Val220Ile LB/B rs201314877 - KIF1A Q12756 VAR_075485 p.Glu233Asp LB/B rs373882732 - KIF1A Q12756 VAR_075486 p.Leu249Gln LP/P rs672601371 NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_075487 p.Glu253Lys LP/P rs672601369 NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_075488 p.Arg316Trp LP/P rs672601370 NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_075489 p.Ile336Val LB/B rs375423065 - KIF1A Q12756 VAR_075490 p.Arg350Gly LP/P rs387907259 Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_075491 p.Arg355His LB/B rs373042822 - KIF1A Q12756 VAR_077467 p.Ser69Leu LP/P rs786200949 Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_077468 p.Gly102Ser LP/P rs1064795534 Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_077469 p.Ile1026Thr US - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_083686 p.Arg11Gln LP/P - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_083687 p.Arg11Trp LP/P - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_083688 p.Met30Thr US - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_083689 p.Tyr56Cys US - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_083690 p.Tyr74Cys US - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_083691 p.Gly78Ser LP/P - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_083692 p.Thr106Asn LP/P - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_083693 p.Glu148Asp LP/P - NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_083694 p.Arg167His LP/P - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_083695 p.Leu173Pro LP/P - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_083696 p.Val186Phe LP/P - NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_083697 p.Gly199Arg LP/P - NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_083698 p.Ser252Arg LP/P - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_083699 p.Arg254Gln LP/P - NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_083700 p.Arg254Trp LP/P - NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_083701 p.Thr258Met LP/P - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_083702 p.Arg307Pro LP/P - NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_083703 p.Arg307Gln LP/P - NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_083704 p.Ser323Pro LP/P - NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_083705 p.Arg350Trp LP/P - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_083706 p.Arg380Trp US - NESCAV syndrome (NESCAVS) [MIM:614255] KIF1A Q12756 VAR_083707 p.Ala460Gly US - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_083709 p.Arg843Cys US - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_083710 p.Asn859Lys US - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_086844 p.Arg13Cys US - - KIF1A Q12756 VAR_086845 p.Arg13His LB/B rs797045050 - KIF1A Q12756 VAR_086846 p.Tyr54Asp US - - KIF1A Q12756 VAR_086847 p.Tyr89Asp LB/B rs869312711 - KIF1A Q12756 VAR_086848 p.Cys92Arg US - - KIF1A Q12756 VAR_086849 p.Lys103Thr US - - KIF1A Q12756 VAR_086850 p.Gly117Val LB/B rs1200817308 - KIF1A Q12756 VAR_086851 p.Glu148Lys US - - KIF1A Q12756 VAR_086852 p.Cys151Tyr US - - KIF1A Q12756 VAR_086853 p.Arg155Cys US - - KIF1A Q12756 VAR_086854 p.Asp156Val US - - KIF1A Q12756 VAR_086855 p.Leu157His US - - KIF1A Q12756 VAR_086856 p.His171Pro LB/B rs876661180 - KIF1A Q12756 VAR_086857 p.Glu179Gly US rs879253948 - KIF1A Q12756 VAR_086858 p.Gly199Glu US - - KIF1A Q12756 VAR_086859 p.Arg203Ser US - - KIF1A Q12756 VAR_086860 p.Ala206Val US rs750125764 - KIF1A Q12756 VAR_086861 p.Met210Thr US - - KIF1A Q12756 VAR_086862 p.Asn211His US - - KIF1A Q12756 VAR_086863 p.Ser214Asn US - - KIF1A Q12756 VAR_086864 p.Ser217Tyr US - - KIF1A Q12756 VAR_086865 p.Arg229Cys US rs776660768 - KIF1A Q12756 VAR_086866 p.Val247Met US - - KIF1A Q12756 VAR_086867 p.Asp248Glu US - - KIF1A Q12756 VAR_086868 p.Asp248Gly US - - KIF1A Q12756 VAR_086869 p.Gly251Arg US - - KIF1A Q12756 VAR_086870 p.Arg254Pro US - - KIF1A Q12756 VAR_086871 p.Glu267Gln US - - KIF1A Q12756 VAR_086872 p.Asn272Ser US rs876661283 - KIF1A Q12756 VAR_086873 p.Ser274Leu LB/B rs797045655 - KIF1A Q12756 VAR_086874 p.Leu275Pro US - - KIF1A Q12756 VAR_086875 p.Leu278Pro US - - KIF1A Q12756 VAR_086876 p.Gly279Asp US - - KIF1A Q12756 VAR_086877 p.Gly279Arg US - - KIF1A Q12756 VAR_086878 p.Lys280Arg US - - KIF1A Q12756 VAR_086879 p.Pro305Leu LP/P - Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A Q12756 VAR_086880 p.Tyr306Cys US - - KIF1A Q12756 VAR_086881 p.Arg307Gly US - - KIF1A Q12756 VAR_086882 p.Leu314Pro US - - KIF1A Q12756 VAR_086883 p.Arg316Gln LB/B rs749718096 - KIF1A Q12756 VAR_086884 p.Thr344Met US - - KIF1A Q12756 VAR_086885 p.Ala475Asp US - - KIF1B O60333 VAR_011515 p.Gln98Leu LP/P rs121908160 Charcot-Marie-Tooth disease, axonal, 2A1 (CMT2A1) [MIM:118210] KIF1B O60333 VAR_063531 p.Ser34Leu LB/B rs1269940164 - KIF1B O60333 VAR_063532 p.Glu692Val LB/B rs121908161 - KIF1B O60333 VAR_063533 p.Thr873Ile LB/B rs121908162 - KIF1B O60333 VAR_063534 p.Tyr1133Cys LB/B rs2297881 - KIF1B O60333 VAR_063535 p.Pro1263Ser LB/B rs121908163 - KIF1B O60333 VAR_063536 p.Ser1527Asn LB/B rs121908164 - KIF1B O60333 VAR_063537 p.Val1600Met LB/B rs77172218 - KIF1B O60333 VAR_063538 p.Glu1674Lys LB/B rs143669846 - KIF1C O43896 VAR_070937 p.Arg169Trp LP/P rs587777198 Spastic ataxia 2, autosomal recessive (SPAX2) [MIM:611302] KIF20A O95235 VAR_049704 p.Glu63Lys LB/B rs3734116 - KIF20A O95235 VAR_049705 p.Pro839Leu LB/B rs3172747 - KIF20A O95235 VAR_086018 p.Arg182Trp LP/P rs771130761 Cardiomyopathy, familial restrictive 6 (RCM6) [MIM:619433] KIF20B Q96Q89 VAR_030181 p.Ala50Gly LB/B rs1129777 - KIF20B Q96Q89 VAR_030182 p.Glu490Asp LB/B rs17484219 - KIF20B Q96Q89 VAR_030183 p.Asn756Ile LB/B rs12572012 - KIF20B Q96Q89 VAR_030184 p.His789Leu LB/B rs3758388 - KIF20B Q96Q89 VAR_030185 p.Asp1011Glu LB/B rs1062465 - KIF20B Q96Q89 VAR_030186 p.Glu1127Gln LB/B rs11185863 - KIF20B Q96Q89 VAR_030187 p.Cys1177Arg LB/B rs1886996 - KIF20B Q96Q89 VAR_030188 p.Asn1219Ser LB/B rs1886997 - KIF20B Q96Q89 VAR_030189 p.Ile1789Val LB/B rs3758390 - KIF20B Q96Q89 VAR_075704 p.Ala1148Val LB/B rs117564945 - KIF20B Q96Q89 VAR_075705 p.Phe1589Tyr LB/B rs117258675 - KIF21A Q7Z4S6 VAR_019399 p.Met356Thr LP/P rs121912588 Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700] KIF21A Q7Z4S6 VAR_019400 p.Met947Arg LP/P rs121912590 Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700] KIF21A Q7Z4S6 VAR_019401 p.Met947Val LP/P rs121912589 Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700] KIF21A Q7Z4S6 VAR_019402 p.Arg954Gln LP/P rs121912586 Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700] KIF21A Q7Z4S6 VAR_019403 p.Arg954Trp LP/P rs121912585 Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700] KIF21A Q7Z4S6 VAR_019404 p.Ile1010Thr LP/P rs121912587 Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700] KIF21A Q7Z4S6 VAR_027021 p.Met947Thr LP/P - Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700] KIF21A Q7Z4S6 VAR_074031 p.Asp352Glu LP/P - Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700] KIF21A Q7Z4S6 VAR_074032 p.Glu944Gln LP/P - Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700] KIF21A Q7Z4S6 VAR_074033 p.Arg954Leu LP/P - Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700] KIF21A Q7Z4S6 VAR_074034 p.Ala1008Pro LP/P - Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700] KIF22 Q14807 VAR_067345 p.Pro148Leu LP/P rs193922921 Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546] KIF22 Q14807 VAR_067346 p.Pro148Ser LP/P rs193922920 Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546] KIF22 Q14807 VAR_067347 p.Arg149Leu LP/P rs193922922 Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546] KIF22 Q14807 VAR_067348 p.Arg149Gln LP/P rs193922922 Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546] KIF22 Q14807 VAR_067349 p.Arg232Gln LB/B rs201659270 - KIF23 Q02241 VAR_049686 p.Phe515Leu LB/B rs17310879 - KIF23 Q02241 VAR_086957 p.Pro916Arg LP/P - Anemia, congenital dyserythropoietic, 3A (CDAN3A) [MIM:105600] KIF24 Q5T7B8 VAR_030720 p.Asp50Glu LB/B rs16935508 - KIF24 Q5T7B8 VAR_030721 p.Met140Val LB/B rs10972048 - KIF24 Q5T7B8 VAR_049706 p.Trp218Leu LB/B rs17350674 - KIF24 Q5T7B8 VAR_049707 p.Thr1077Lys LB/B rs34101674 - KIF24 Q5T7B8 VAR_061284 p.Arg109Gly LB/B rs41274845 - KIF24 Q5T7B8 VAR_061285 p.Ser837Phe LB/B rs41274041 - KIF25 Q9UIL4 VAR_049687 p.Thr229Pro LB/B rs12197062 - KIF25 Q9UIL4 VAR_049688 p.Ala255Thr LB/B rs2073634 - KIF25 Q9UIL4 VAR_059369 p.Lys28Met LB/B rs4708626 - KIF25 Q9UIL4 VAR_061280 p.Ala41Thr LB/B rs34049091 - KIF25-AS1 Q9Y6Z4 VAR_033051 p.His23Asp LB/B rs9355149 - KIF25-AS1 Q9Y6Z4 VAR_033052 p.Cys24Arg LB/B rs2516801 - KIF25-AS1 Q9Y6Z4 VAR_033053 p.Gln57Glu LB/B rs9364382 - KIF26A Q9ULI4 VAR_087893 p.Arg721Cys US rs371784932 Cortical dysplasia, complex, with other brain malformations 11 (CDCBM11) [MIM:620156] KIF26A Q9ULI4 VAR_087894 p.Pro949Ser US rs746572271 Cortical dysplasia, complex, with other brain malformations 11 (CDCBM11) [MIM:620156] KIF26A Q9ULI4 VAR_087895 p.Ala1559Val US rs200958438 Cortical dysplasia, complex, with other brain malformations 11 (CDCBM11) [MIM:620156] KIF26A Q9ULI4 VAR_087896 p.Arg1602Trp US rs768472040 Cortical dysplasia, complex, with other brain malformations 11 (CDCBM11) [MIM:620156] KIF26A Q9ULI4 VAR_087897 p.Arg1624Cys US rs1003059932 Cortical dysplasia, complex, with other brain malformations 11 (CDCBM11) [MIM:620156] KIF26B Q2KJY2 VAR_080730 p.Asp1904Asn US rs749953234 - KIF27 Q86VH2 VAR_035361 p.Ile213Val LB/B rs12001918 - KIF27 Q86VH2 VAR_035362 p.Arg300Gln LB/B rs35594736 - KIF27 Q86VH2 VAR_061286 p.Asn1036Asp LB/B rs55654273 - KIF2A O00139 VAR_070575 p.Ser317Asn LP/P rs587777034 Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3) [MIM:615411] KIF2A O00139 VAR_070576 p.His321Asp LP/P rs587777033 Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3) [MIM:615411] KIF2B Q8N4N8 VAR_028717 p.Ala112Val LB/B rs3803824 - KIF2B Q8N4N8 VAR_028718 p.Gly128Arg LB/B rs9912492 - KIF2B Q8N4N8 VAR_028719 p.Pro417Ser LB/B rs4561518 - KIF2B Q8N4N8 VAR_028720 p.Arg437Gly LB/B rs4561519 - KIF2B Q8N4N8 VAR_061279 p.Pro148Ser LB/B rs59657238 - KIF2C Q99661 VAR_049683 p.Ile449Leu LB/B rs4342887 - KIF3A Q9Y496 VAR_055319 p.Lys172Ile LB/B rs17854353 - KIF3B O15066 VAR_084674 p.Glu250Gln LP/P - Retinitis pigmentosa 89 (RP89) [MIM:618955] KIF3B O15066 VAR_084675 p.Leu523Pro LP/P - Retinitis pigmentosa 89 (RP89) [MIM:618955] KIF3C O14782 VAR_055120 p.Arg370Gln LB/B rs1465878 - KIF3C O14782 VAR_078709 p.Arg571Gln LB/B rs772693472 - KIF4A O95239 VAR_021828 p.Leu422Trp LB/B rs1199457 - KIF4A O95239 VAR_049693 p.Ala491Val LB/B rs2297871 - KIF4A O95239 VAR_049694 p.Leu1193Ser LB/B rs1046485 - KIF4B Q2VIQ3 VAR_049695 p.Glu494Gln LB/B rs17116709 - KIF4B Q2VIQ3 VAR_049696 p.Arg580Leu LB/B rs6580126 - KIF4B Q2VIQ3 VAR_049697 p.Arg680His LB/B rs17116710 - KIF4B Q2VIQ3 VAR_061281 p.Tyr684Cys LB/B rs10056252 - KIF5A Q12840 VAR_032842 p.Asn256Ser LP/P rs121434441 Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187] KIF5A Q12840 VAR_032843 p.Arg280Cys LP/P rs121434442 Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187] KIF5A Q12840 VAR_032844 p.Ala361Val LP/P rs121434444 Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187] KIF5A Q12840 VAR_033108 p.Tyr276Cys LP/P rs121434443 Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187] KIF5A Q12840 VAR_046744 p.Lys253Asn LP/P - Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187] KIF5A Q12840 VAR_058741 p.Tyr63Cys LP/P - Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187] KIF5A Q12840 VAR_058742 p.Met198Thr LP/P - Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187] KIF5A Q12840 VAR_058743 p.Arg204Gln LP/P rs387907287 Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187] KIF5A Q12840 VAR_058744 p.Glu251Lys LP/P rs387907285 Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187] KIF5A Q12840 VAR_058746 p.Lys257Asn LP/P - Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187] KIF5A Q12840 VAR_058747 p.Arg280His LP/P rs387907288 Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187] KIF5A Q12840 VAR_058748 p.Arg280Leu LP/P - Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187] KIF5A Q12840 VAR_066616 p.Ser203Cys LP/P - Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187] KIF5A Q12840 VAR_080647 p.Glu413Gly US rs1399145820 Amyotrophic lateral sclerosis 25 (ALS25) [MIM:617921] KIF5A Q12840 VAR_080648 p.Gln474His US rs1373971092 Amyotrophic lateral sclerosis 25 (ALS25) [MIM:617921] KIF5A Q12840 VAR_080650 p.Ser577Gly US rs754373609 Amyotrophic lateral sclerosis 25 (ALS25) [MIM:617921] KIF5A Q12840 VAR_080651 p.Pro986Leu US rs113247976 Amyotrophic lateral sclerosis 25 (ALS25) [MIM:617921] KIF5A Q12840 VAR_080652 p.Arg1007Gly LP/P rs1555179087 Amyotrophic lateral sclerosis 25 (ALS25) [MIM:617921] KIF5C O60282 VAR_069389 p.Glu237Lys LP/P rs587777570 Cortical dysplasia, complex, with other brain malformations 2 (CDCBM2) [MIM:615282] KIF5C O60282 VAR_070574 p.Glu237Val LP/P rs587777035 Cortical dysplasia, complex, with other brain malformations 2 (CDCBM2) [MIM:615282] KIF6 Q6ZMV9 VAR_022810 p.Trp719Arg LB/B rs20455 - KIF6 Q6ZMV9 VAR_036217 p.Ala386Glu US - A breast cancer sample KIF6 Q6ZMV9 VAR_049698 p.Arg512His LB/B rs2273063 - KIF7 Q2M1P5 VAR_035363 p.Ser958Ile LB/B rs3803530 - KIF7 Q2M1P5 VAR_035364 p.Gly1005Arg LB/B rs12900805 - KIF7 Q2M1P5 VAR_061287 p.Asp52Asn LB/B rs8179065 - KIF7 Q2M1P5 VAR_066450 p.Pro632Leu LB/B rs115857753 - KIF7 Q2M1P5 VAR_066451 p.Arg641Gly LP/P rs137905815 Bardet-Biedl syndrome (BBS) [MIM:209900] KIF7 Q2M1P5 VAR_066452 p.Arg702Gln LP/P rs149078926 Acrocallosal syndrome (ACLS) [MIM:200990] KIF7 Q2M1P5 VAR_066453 p.Leu759Pro US - - KIF7 Q2M1P5 VAR_066454 p.Gln834Arg US rs138354681 - KIF7 Q2M1P5 VAR_066455 p.Gln994Arg LP/P rs138410949 Bardet-Biedl syndrome (BBS) [MIM:209900] KIF7 Q2M1P5 VAR_066456 p.Arg1068Trp LP/P rs147191956 Bardet-Biedl syndrome (BBS) [MIM:209900] KIF7 Q2M1P5 VAR_066457 p.His1115Gln LB/B rs142032413 - KIF7 Q2M1P5 VAR_071185 p.Asn1060Ser LP/P rs886039282 Al-Gazali-Bakalinova syndrome (AGBK) [MIM:607131] KIF7 Q2M1P5 VAR_077692 p.Arg154Gln US rs180758272 Acrocallosal syndrome (ACLS) [MIM:200990] KIF7 Q2M1P5 VAR_077693 p.Val828Met US rs143915145 Acrocallosal syndrome (ACLS) [MIM:200990] KIF7 Q2M1P5 VAR_077694 p.Glu987Lys US rs146626238 Acrocallosal syndrome (ACLS) [MIM:200990] KIF7 Q2M1P5 VAR_077695 p.Ser1122Trp US rs202195179 Acrocallosal syndrome (ACLS) [MIM:200990] KIF9 Q9HAQ2 VAR_020443 p.Gly96Ala LB/B rs3733092 - KIF9 Q9HAQ2 VAR_022139 p.Val78Ile LB/B rs2270569 - KIF9 Q9HAQ2 VAR_024513 p.Arg638Trp LB/B rs2276853 - KIFAP3 Q92845 VAR_051081 p.Ser513Ala LB/B rs12075833 - KIFBP Q96EK5 VAR_023311 p.Gly66Ser LB/B rs2255607 - KIFC1 Q9BW19 VAR_012650 p.Arg219Gln LB/B rs61736175 - KIFC2 Q96AC6 VAR_049684 p.Gly67Glu LB/B rs35817880 - KIFC2 Q96AC6 VAR_049685 p.Ser166Phe LB/B rs12675537 - KIFC3 Q9BVG8 VAR_028114 p.Gly391Val LB/B rs17854089 - KIR2DL1 P43626 VAR_003949 p.Val5Phe LB/B rs2304224 - KIR2DL1 P43626 VAR_003950 p.Arg37Pro LB/B rs35509911 - KIR2DL1 P43626 VAR_003951 p.Leu135Pro LB/B rs11673144 - KIR2DL1 P43626 VAR_010331 p.Pro175Thr LB/B rs111799279 - KIR2DL1 P43626 VAR_010332 p.Asp184Asn LB/B rs147072532 - KIR2DL1 P43626 VAR_010333 p.His203Arg LB/B rs666590 - KIR2DL1 P43626 VAR_010334 p.Lys237Glu LB/B rs75232650 - KIR2DL1 P43626 VAR_010335 p.Arg266Cys LB/B rs34721508 - KIR2DL1 P43626 VAR_056091 p.Phe66Tyr LB/B rs673568 - KIR2DL1 P43626 VAR_061332 p.Ala9Val LB/B rs3810343 - KIR2DL1 P43626 VAR_061333 p.Val111Leu LB/B rs687885 - KIR2DL2 P43627 VAR_021929 p.Arg37Pro LB/B rs1555897648 - KIR2DL2 P43627 VAR_059417 p.Ala9Val LB/B rs3810343 - KIR2DL2 P43627 VAR_059418 p.Phe66Tyr LB/B rs78713511 - KIR2DL3 P43628 VAR_010313 p.Val9Ala LB/B rs3810343 - KIR2DL3 P43628 VAR_010314 p.Leu32Arg LB/B rs202032116 - KIR2DL3 P43628 VAR_010315 p.Gln56Glu LB/B rs35719984 - KIR2DL3 P43628 VAR_010316 p.His71Arg LB/B rs138897134 - KIR2DL3 P43628 VAR_010317 p.Arg318His LB/B rs1049267 - KIR2DL3 P43628 VAR_015967 p.His34Gln LB/B rs683003 - KIR2DL3 P43628 VAR_015968 p.Pro229Leu LB/B rs35861855 - KIR2DL3 P43628 VAR_015969 p.Arg242Ile LB/B - - KIR2DL3 P43628 VAR_015970 p.Ala304Thr LB/B rs4020187 - KIR2DL3 P43628 VAR_049978 p.Pro37Arg LB/B rs613240 - KIR2DL3 P43628 VAR_049979 p.Phe66Tyr LB/B rs78713511 - KIR2DL4 Q99706 VAR_010307 p.Tyr53Cys LB/B rs618835 - KIR2DL4 Q99706 VAR_010308 p.Val87Leu LB/B rs773420112 - KIR2DL4 Q99706 VAR_010309 p.Ala138Thr LB/B rs1051454 - KIR2DL4 Q99706 VAR_010310 p.Pro209Ala LB/B rs1051456 - KIR2DL4 Q99706 VAR_010311 p.Asp271Asn LB/B - - KIR2DL4 Q99706 VAR_010312 p.Asn371His LB/B rs1185997484 - KIR2DL5B Q8NHK3 VAR_080174 p.Val6Ile LB/B - - KIR2DL5B Q8NHK3 VAR_080175 p.Thr141Ala LB/B - - KIR2DL5B Q8NHK3 VAR_080176 p.Glu276Gly LB/B - - KIR2DS1 Q14954 VAR_010318 p.Lys91Arg LB/B rs687485 - KIR2DS1 Q14954 VAR_059419 p.Leu111Val LB/B rs687885 - KIR2DS2 P43631 VAR_020090 p.Lys237Glu LB/B rs2262065 - KIR2DS2 P43631 VAR_059420 p.Ala9Val LB/B rs189739973 - KIR2DS2 P43631 VAR_059421 p.Tyr66Phe LB/B rs1049626616 - KIR2DS2 P43631 VAR_059422 p.Lys254Asn LB/B rs1063326 - KIR2DS4 P43632 VAR_049980 p.Lys65Met LB/B rs1130480 - KIR2DS4 P43632 VAR_049981 p.Asn68Asp LB/B rs1130481 - KIR2DS4 P43632 VAR_049982 p.His71Arg LB/B rs1130482 - KIR2DS4 P43632 VAR_049983 p.Pro89Arg LB/B rs1130487 - KIR2DS4 P43632 VAR_049984 p.Pro92His LB/B rs1143508 - KIR2DS4 P43632 VAR_049985 p.Val93Asp LB/B rs1130491 - KIR2DS4 P43632 VAR_049986 p.Ser103Cys LB/B rs10406301 - KIR2DS4 P43632 VAR_059423 p.Asn178His LB/B rs4806591 - KIR2DS4 P43632 VAR_059424 p.Ala205Ser LB/B rs1049290 - KIR2DS4 P43632 VAR_059425 p.Lys254Asn LB/B rs1063326 - KIR2DS5 Q14953 VAR_080126 p.Ser2Leu LB/B - - KIR2DS5 Q14953 VAR_080127 p.His22Arg LB/B - - KIR2DS5 Q14953 VAR_080128 p.Ser132Pro LB/B - - KIR2DS5 Q14953 VAR_080129 p.Ser144Asn LB/B - - KIR2DS5 Q14953 VAR_080130 p.Ser148Phe LB/B - - KIR2DS5 Q14953 VAR_080131 p.Pro175Thr LB/B - - KIR2DS5 Q14953 VAR_080132 p.Arg179Gly LB/B - - KIR2DS5 Q14953 VAR_080133 p.Phe185Ser LB/B - - KIR2DS5 Q14953 VAR_080134 p.Thr195Ala LB/B - - KIR2DS5 Q14953 VAR_080135 p.Arg197Thr LB/B - - KIR2DS5 Q14953 VAR_080136 p.Arg203His LB/B - - KIR2DS5 Q14953 VAR_080137 p.Glu237Lys LB/B - - KIR3DL1 P43629 VAR_010319 p.Ser2Leu LB/B rs605219 - KIR3DL1 P43629 VAR_010320 p.Leu13Phe LB/B rs1142881 - KIR3DL1 P43629 VAR_010321 p.Met23Val LB/B rs1142882 - KIR3DL1 P43629 VAR_010322 p.Ile68Val LB/B rs643347 - KIR3DL1 P43629 VAR_010323 p.Ile75Leu LB/B rs1049150 - KIR3DL1 P43629 VAR_010324 p.Ser333Cys LB/B - - KIR3DL1 P43629 VAR_010336 p.Gly259Arg LB/B rs1049215 - KIR3DL1 P43629 VAR_049987 p.Pro203Ser LB/B rs2273731 - KIR3DL1 P43629 VAR_049988 p.Pro220Leu LB/B rs680891 - KIR3DL1 P43629 VAR_049989 p.Leu362Arg LB/B rs1130468 - KIR3DL1 P43629 VAR_049990 p.Glu394Gln LB/B rs1130513 - KIR3DL2 P43630 VAR_010325 p.Pro40Ala LB/B - - KIR3DL2 P43630 VAR_010326 p.Leu113Val LB/B rs3188286 - KIR3DL2 P43630 VAR_010327 p.Glu158Asp LB/B rs633870 - KIR3DL2 P43630 VAR_010328 p.Arg166His LB/B rs1048271 - KIR3DL2 P43630 VAR_010329 p.Ala228Pro LB/B rs1377032475 - KIR3DL2 P43630 VAR_010330 p.Ile252Thr LB/B - - KIR3DL2 P43630 VAR_049992 p.Thr397Met LB/B rs3745902 - KIR3DL2 P43630 VAR_049993 p.Lys439Gln LB/B rs3745903 - KIR3DL3 Q8N743 VAR_019426 p.Val168Ile LB/B rs270790 - KIR3DL3 Q8N743 VAR_056092 p.Ala348Pro LB/B rs16985907 - KIR3DL3 Q8N743 VAR_060366 p.Val324Ala LB/B rs662386 - KIR3DL3 Q8N743 VAR_060610 p.Arg52His LB/B rs113988102 - KIR3DL3 Q8N743 VAR_060611 p.Asn56Lys LB/B rs2075731 - KIR3DL3 Q8N743 VAR_060612 p.Arg77Trp LB/B rs202170060 - KIR3DL3 Q8N743 VAR_060613 p.Arg149Ser LB/B rs62132665 - KIR3DL3 Q8N743 VAR_060614 p.Arg152His LB/B rs199609975 - KIR3DL3 Q8N743 VAR_060615 p.Gly231Asp LB/B rs112412050 - KIR3DL3 Q8N743 VAR_060616 p.Asn290Thr LB/B rs2302422 - KIR3DL3 Q8N743 VAR_060617 p.His321Asn LB/B rs602444 - KIR3DL3 Q8N743 VAR_060618 p.His321Tyr LB/B rs602444 - KIR3DL3 Q8N743 VAR_060619 p.Val324Asp LB/B rs662386 - KIR3DL3 Q8N743 VAR_060620 p.Glu373Asp LB/B rs28504993 - KIR3DS1 Q14943 VAR_010377 p.Arg166His LB/B rs375468097 - KIR3DS1 Q14943 VAR_056093 p.Leu2Ser LB/B rs605219 - KIR3DS1 Q14943 VAR_056094 p.Val68Ile LB/B rs643347 - KIR3DS1 Q14943 VAR_056095 p.Pro203Ser LB/B rs2273731 - KIR3DS1 Q14943 VAR_056096 p.Leu220Pro LB/B rs680891 - KIR3DS1 Q14943 VAR_056097 p.Gly259Arg LB/B rs1049215 - KIR3DS1 Q14943 VAR_078992 p.Leu13Phe LB/B rs1142881 - KIR3DS1 Q14943 VAR_078994 p.Arg157Lys LB/B - - KIRREL1 Q96J84 VAR_059428 p.Ala78Thr LB/B rs35927201 - KIRREL1 Q96J84 VAR_085245 p.Arg440Cys LP/P rs764090370 Nephrotic syndrome 23 (NPHS23) [MIM:619201] KIRREL1 Q96J84 VAR_085246 p.Ser573Leu US rs139995772 Nephrotic syndrome 23 (NPHS23) [MIM:619201] KIRREL2 Q6UWL6 VAR_056098 p.Arg19Ser LB/B rs446014 - KIRREL2 Q6UWL6 VAR_056099 p.Ala170Thr LB/B rs404299 - KIRREL2 Q6UWL6 VAR_056100 p.Val353Met LB/B rs35423326 - KIRREL2 Q6UWL6 VAR_056101 p.Ser556Asn LB/B rs35775934 - KIRREL2 Q6UWL6 VAR_067450 p.Glu591Lys LB/B rs382789 - KIRREL3 Q8IZU9 VAR_054828 p.Arg40Trp US rs119462978 - KIRREL3 Q8IZU9 VAR_054829 p.Arg336Gln US rs114378922 - KIRREL3 Q8IZU9 VAR_054830 p.Val731Phe US rs119462980 - KISS1 Q15726 VAR_021396 p.Glu20Lys LB/B rs12998 - KISS1 Q15726 VAR_021397 p.Gln36Arg LB/B rs35431622 - KISS1 Q15726 VAR_021398 p.Pro81Arg LB/B rs4889 - KISS1 Q15726 VAR_069179 p.Asn115Lys LP/P - Hypogonadotropic hypogonadism 13 with or without anosmia (HH13) [MIM:614842] KISS1R Q969F8 VAR_021392 p.Leu148Ser LP/P rs28939719 Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837] KISS1R Q969F8 VAR_021393 p.Cys223Arg LP/P - Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837] KISS1R Q969F8 VAR_021394 p.Arg297Leu LP/P rs144670595 Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837] KISS1R Q969F8 VAR_021395 p.Leu364His LB/B rs350132 - KISS1R Q969F8 VAR_043906 p.Leu102Pro LP/P rs104894703 Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837] KISS1R Q969F8 VAR_043907 p.Arg386Pro LP/P rs121908499 Precocious puberty, central 1 (CPPB1) [MIM:176400] KISS1R Q969F8 VAR_069961 p.Ala189Thr LP/P rs73507527 Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837] KISS1R Q969F8 VAR_069962 p.Ala194Asp LP/P rs397514699 Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837] KISS1R Q969F8 VAR_072975 p.Ser262Leu LP/P rs745580229 Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837] KIT P10721 VAR_004104 p.Glu583Lys LP/P rs121913680 Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_004105 p.Phe584Leu LP/P rs794726671 Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_004106 p.Gly664Arg LP/P rs121913679 Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_004107 p.Arg791Gly LP/P rs1722708855 Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_004108 p.Gly812Val LP/P - Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_004109 p.Asp816Val US rs121913507 Mast cell leukemia KIT P10721 VAR_004109 p.Asp816Val LP/P rs121913507 Mastocytosis, cutaneous (MASTC) [MIM:154800] KIT P10721 VAR_004109 p.Asp816Val LP/P rs121913507 Mastocytosis, systemic (MASTSYS) [MIM:154800] KIT P10721 VAR_023828 p.Asp816Tyr LP/P rs121913506 Mastocytosis, cutaneous (MASTC) [MIM:154800] KIT P10721 VAR_023828 p.Asp816Tyr LP/P rs121913506 Mastocytosis, systemic (MASTSYS) [MIM:154800] KIT P10721 VAR_023829 p.Asn822Lys US rs121913514 A germ cell tumor of the testis KIT P10721 VAR_023830 p.Ala829Pro US rs1057519713 A germ cell tumor of the testis KIT P10721 VAR_033123 p.Lys550Ile LP/P - Gastrointestinal stromal tumor (GIST) [MIM:606764] KIT P10721 VAR_033126 p.Val559Ala LP/P rs121913517 Gastrointestinal stromal tumor (GIST) [MIM:606764] KIT P10721 VAR_033127 p.Val559Asp LP/P rs121913517 Gastrointestinal stromal tumor (GIST) [MIM:606764] KIT P10721 VAR_033129 p.Phe584Cys LP/P rs28933371 Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_033130 p.Gly601Arg LP/P - Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_033131 p.Leu656Pro LP/P - Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_033132 p.Arg796Gly LP/P rs121913684 Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_033133 p.Asp816Phe LP/P - Mastocytosis, cutaneous (MASTC) [MIM:154800] KIT P10721 VAR_033134 p.Asp816His US rs121913506 A testicular tumor KIT P10721 VAR_033135 p.Asp820Gly LB/B rs121913682 - KIT P10721 VAR_033136 p.Glu839Lys LP/P rs121913509 Mastocytosis, cutaneous (MASTC) [MIM:154800] KIT P10721 VAR_033137 p.Thr847Pro LP/P rs121913687 Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_042021 p.Val532Ile LB/B rs55792975 - KIT P10721 VAR_042022 p.Met541Leu LB/B rs3822214 - KIT P10721 VAR_042023 p.Cys691Ser LB/B rs35200131 - KIT P10721 VAR_042024 p.Ser715Asn LB/B rs56094246 - KIT P10721 VAR_042025 p.Asp737Asn US rs751005114 A colorectal adenocarcinoma sample KIT P10721 VAR_042026 p.Arg804Trp US rs145602440 A colorectal adenocarcinoma sample KIT P10721 VAR_061289 p.Met541Val LB/B rs3822214 - KIT P10721 VAR_081062 p.Ser451Cys US - Mastocytosis, cutaneous (MASTC) [MIM:154800] KIT P10721 VAR_081063 p.Ala533Asp US rs753212327 Mastocytosis, cutaneous (MASTC) [MIM:154800] KIT P10721 VAR_081064 p.Asp816Ile LP/P rs1057519709 Mastocytosis, cutaneous (MASTC) [MIM:154800] KIT P10721 VAR_081065 p.Asn822Ile LP/P rs993022333 Mastocytosis, cutaneous (MASTC) [MIM:154800] KITLG P21583 VAR_042652 p.Thr54Ala LB/B rs3741457 - KITLG P21583 VAR_042653 p.Phe232Tyr LB/B rs12721563 - KITLG P21583 VAR_063237 p.Asn36Ser LP/P rs121918653 Hyperpigmentation with or without hypopigmentation, familial progressive (FPHH) [MIM:145250] KITLG P21583 VAR_063238 p.Asp210Tyr LB/B rs41283112 - KITLG P21583 VAR_076223 p.Leu104Val US rs864309655 Waardenburg syndrome 2F (WS2F) [MIM:619947] KITLG P21583 VAR_087496 p.Arg32Cys US - Waardenburg syndrome 2F (WS2F) [MIM:619947] KITLG P21583 VAR_087497 p.Ile148Thr US rs751013211 Waardenburg syndrome 2F (WS2F) [MIM:619947] KIZ Q2M2Z5 VAR_034909 p.His139Gln LB/B rs4815025 - KIZ Q2M2Z5 VAR_034910 p.Met236Thr LB/B rs2236178 - KL Q9UEF7 VAR_023582 p.Pro15Gln LB/B rs1052018 - KL Q9UEF7 VAR_023583 p.Phe45Val LB/B rs1052019 - KL Q9UEF7 VAR_023584 p.Phe352Val LB/B rs9536314 - KL Q9UEF7 VAR_023585 p.Cys370Ser LB/B rs9527025 - KL Q9UEF7 VAR_036449 p.Pro954Leu US rs139939367 A colorectal cancer sample KL Q9UEF7 VAR_049295 p.Pro514Ser LB/B rs3752472 - KL Q9UEF7 VAR_064554 p.His193Arg LP/P rs121908423 Tumoral calcinosis, hyperphosphatemic, familial, 3 (HFTC3) [MIM:617994] KLB Q86Z14 VAR_034053 p.Arg728Gln LB/B rs17618244 - KLB Q86Z14 VAR_034054 p.Ala747Val LB/B rs35372803 - KLB Q86Z14 VAR_034055 p.Gln1020Lys LB/B rs4975017 - KLB Q86Z14 VAR_049296 p.Tyr906His LB/B rs17618262 - KLB Q86Z14 VAR_061207 p.Pro65Ala LB/B rs34905034 - KLC2 Q9H0B6 VAR_020379 p.Pro517Ser LB/B rs2276036 - KLC4 Q9NSK0 VAR_049708 p.Arg72His LB/B rs11558979 - KLF1 Q13351 VAR_043981 p.Ser102Pro LB/B rs2072597 - KLF1 Q13351 VAR_043982 p.Phe182Leu LB/B rs2072596 - KLF1 Q13351 VAR_058108 p.His299Tyr LB/B rs137852688 - KLF1 Q13351 VAR_058109 p.Arg328His LB/B rs140252918 - KLF1 Q13351 VAR_058110 p.Arg328Leu US - - KLF1 Q13351 VAR_058111 p.Arg331Gly US - - KLF1 Q13351 VAR_064901 p.Glu325Lys LP/P rs267607201 Anemia, congenital dyserythropoietic, 4 (CDAN4) [MIM:613673] KLF1 Q13351 VAR_072737 p.Ala298Pro US rs387907598 - KLF1 Q13351 VAR_072738 p.Pro338Ser LB/B rs387907599 - KLF1 Q13351 VAR_074272 p.Glu5Lys LB/B rs483352842 - KLF1 Q13351 VAR_074273 p.His299Asp LB/B rs137852688 - KLF1 Q13351 VAR_074274 p.Cys316Trp LB/B - - KLF1 Q13351 VAR_074275 p.Thr334Arg LB/B rs483352841 - KLF1 Q13351 VAR_074276 p.Cys341Tyr LB/B rs483352839 - KLF10 Q13118 VAR_052716 p.Ser249Phe LB/B rs4734653 - KLF11 O14901 VAR_031522 p.Gln62Arg LB/B rs35927125 - KLF11 O14901 VAR_031523 p.Thr220Met LP/P rs34336420 Maturity-onset diabetes of the young 7 (MODY7) [MIM:610508] KLF11 O14901 VAR_031524 p.Ala347Ser LP/P rs121912645 Maturity-onset diabetes of the young 7 (MODY7) [MIM:610508] KLF11 O14901 VAR_052717 p.Ser378Phe LB/B rs35476458 - KLF14 Q8TD94 VAR_052718 p.Ala173Pro LB/B rs35770036 - KLF17 Q5JT82 VAR_026198 p.Asn156Ser LB/B rs2485652 - KLF17 Q5JT82 VAR_052719 p.Ile35Asn LB/B rs11210969 - KLF17 Q5JT82 VAR_052720 p.Ser57Thr LB/B rs2429051 - KLF17 Q5JT82 VAR_052721 p.Gln80His LB/B rs6656945 - KLF2 Q9Y5W3 VAR_038830 p.Leu104Pro LB/B rs3745318 - KLF2 Q9Y5W3 VAR_038831 p.Arg145Pro LB/B rs45586032 - KLF3 P57682 VAR_052715 p.Arg207Ser LB/B rs17616226 - KLF4 O43474 VAR_059888 p.Thr315Ser LB/B rs1059913 - KLF4 O43474 VAR_059889 p.Leu321Phe LB/B rs1059914 - KLF5 Q13887 VAR_035555 p.Pro301Ser US - A colorectal cancer sample KLF6 Q99612 VAR_065136 p.Trp64Arg LB/B rs121909142 - KLF6 Q99612 VAR_065137 p.Ser116Pro LB/B rs121909139 - KLF6 Q99612 VAR_065138 p.Ala123Asp LB/B rs121909141 - KLF6 Q99612 VAR_065139 p.Ser155Arg LB/B rs121909144 - KLF6 Q99612 VAR_065140 p.Leu169Pro LB/B rs121909143 - KLF6 Q99612 VAR_065141 p.Pro172Thr US - - KLF6 Q99612 VAR_065142 p.Ser180Leu LB/B rs372338890 - KLF6 Q99612 VAR_065143 p.Arg198Lys US - - KLF7 O75840 VAR_081574 p.Thr137Met US rs1276619385 - KLF7 O75840 VAR_081575 p.Pro139Ser US - - KLF7 O75840 VAR_081576 p.Asp264Asn US rs1057518995 - KLHDC10 Q6PID8 VAR_039005 p.Ser2Leu LB/B rs3734928 - KLHDC10 Q6PID8 VAR_039006 p.Asp183Gly LB/B rs17854337 - KLHDC10 Q6PID8 VAR_039007 p.Ile274Val LB/B rs17854336 - KLHDC10 Q6PID8 VAR_039008 p.Glu295Gly LB/B rs17857292 - KLHDC10 Q6PID8 VAR_039009 p.Leu437Ile LB/B rs10241894 - KLHDC4 Q8TBB5 VAR_033986 p.Leu56Val LB/B rs2303772 - KLHDC4 Q8TBB5 VAR_033987 p.Leu155Val LB/B rs3751727 - KLHDC4 Q8TBB5 VAR_050054 p.Thr102Ile LB/B rs2303771 - KLHDC4 Q8TBB5 VAR_061340 p.Gly130Val LB/B rs34779002 - KLHDC7A Q5VTJ3 VAR_031913 p.Thr147Pro LB/B rs2992752 - KLHDC7A Q5VTJ3 VAR_031914 p.His273Asn LB/B rs2992753 - KLHDC7A Q5VTJ3 VAR_056126 p.Val21Leu LB/B rs7512414 - KLHDC7A Q5VTJ3 VAR_056127 p.Arg194Pro LB/B rs7515150 - KLHDC7A Q5VTJ3 VAR_059441 p.Arg160Ser LB/B rs11261022 - KLHDC7A Q5VTJ3 VAR_059442 p.Thr351Pro LB/B rs2992752 - KLHDC7A Q5VTJ3 VAR_061341 p.Gly94Ser LB/B rs34976233 - KLHDC7A Q5VTJ3 VAR_061342 p.Pro141Arg LB/B rs2992755 - KLHDC9 Q8NEP7 VAR_034873 p.Ser171Arg LB/B rs11576830 - KLHDC9 Q8NEP7 VAR_034874 p.Asn288Ser LB/B rs1128750 - KLHDC9 Q8NEP7 VAR_050056 p.Ala282Thr LB/B rs1128750 - KLHL10 Q6JEL2 VAR_069357 p.Gln216Pro LP/P rs116420871 Spermatogenic failure 11 (SPGF11) [MIM:615081] KLHL10 Q6JEL2 VAR_069358 p.Ala313Thr LP/P rs370756367 Spermatogenic failure 11 (SPGF11) [MIM:615081] KLHL12 Q53G59 VAR_050049 p.Pro72Leu LB/B rs12569087 - KLHL13 Q9P2N7 VAR_064725 p.Phe223Ile US - - KLHL13 Q9P2N7 VAR_069423 p.Thr261Ser LB/B rs141912385 - KLHL22 Q53GT1 VAR_079854 p.Pro20Gln US - - KLHL24 Q6TFL4 VAR_088094 p.Arg306His LP/P - Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies (CMH29) [MIM:620236] KLHL25 Q9H0H3 VAR_050041 p.Val250Ile LB/B rs35582838 - KLHL25 Q9H0H3 VAR_050042 p.Met257Leu LB/B rs36031133 - KLHL26 Q53HC5 VAR_026861 p.Val542Met LB/B rs17852384 - KLHL26 Q53HC5 VAR_088489 p.Arg208Cys US rs200171150 - KLHL28 Q9NXS3 VAR_061339 p.Ile349Val LB/B rs35728857 - KLHL3 Q9UH77 VAR_067501 p.Ala77Glu LP/P rs199469623 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067502 p.Met78Val LP/P rs199469624 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067503 p.Glu85Ala LP/P rs199469625 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067504 p.Cys164Phe LP/P rs199469626 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067505 p.Arg228Gly LP/P - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067506 p.Gln309Arg LP/P rs199469627 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067507 p.Phe322Cys LP/P rs199469639 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067508 p.Arg336Ile LP/P rs199469640 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067509 p.Ala340Val LP/P rs199469628 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067510 p.Val361Met LP/P - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067511 p.Arg362Trp LP/P rs200892557 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067512 p.Arg384Gln LP/P rs199469629 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067513 p.Arg384Trp LP/P rs951676369 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067514 p.Leu387Pro LP/P rs199469630 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067515 p.Ala398Val LP/P rs387907155 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067516 p.Ser410Leu LP/P rs199469641 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067517 p.Pro426Leu LP/P rs387907156 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067518 p.Met427Thr LP/P rs199469642 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067519 p.Arg431Gln LP/P rs199469643 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067520 p.Ser432Asn LP/P rs199469631 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067521 p.Ser433Gly LP/P - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067522 p.Ser433Asn LP/P rs199469632 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067523 p.Val438Ile US rs907779058 - KLHL3 Q9UH77 VAR_067524 p.Ala494Thr LP/P rs199469633 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067525 p.Gly500Val LP/P rs746774345 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067526 p.Pro501Thr LP/P rs199469634 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067527 p.Arg528Cys LP/P rs199469635 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067528 p.Arg528His LP/P rs199469636 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067529 p.Asn529Lys LP/P rs562736621 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067530 p.Tyr557Cys LP/P rs199469645 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_067531 p.Arg575Trp LP/P rs199469646 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_079630 p.His498Tyr LP/P - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_079631 p.Ser553Leu LP/P rs1367184898 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_088176 p.Thr110Ala LP/P - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3 Q9UH77 VAR_088177 p.Arg431Trp LP/P - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL31 Q9H511 VAR_050050 p.Asn11Ser LB/B rs6908377 - KLHL31 Q9H511 VAR_050051 p.Val156Ile LB/B rs3799260 - KLHL31 Q9H511 VAR_050052 p.Ala508Thr LB/B rs3799261 - KLHL32 Q96NJ5 VAR_028279 p.Asn129Ser LB/B rs2294763 - KLHL32 Q96NJ5 VAR_028280 p.Asp146Gly LB/B rs12662753 - KLHL32 Q96NJ5 VAR_050053 p.Arg5Cys LB/B rs35143662 - KLHL33 A6NCF5 VAR_039878 p.Arg163His LB/B rs12587478 - KLHL33 A6NCF5 VAR_039879 p.Arg176Gln LB/B rs17242648 - KLHL33 A6NCF5 VAR_039880 p.Glu345Gly LB/B rs1953225 - KLHL33 A6NCF5 VAR_039881 p.Ala516Thr LB/B rs7145318 - KLHL38 Q2WGJ6 VAR_059437 p.Gly310Ser LB/B rs16898693 - KLHL38 Q2WGJ6 VAR_059438 p.Asn352Tyr LB/B rs11784175 - KLHL38 Q2WGJ6 VAR_059439 p.Gly394Arg LB/B rs16898691 - KLHL38 Q2WGJ6 VAR_059440 p.Cys504Tyr LB/B rs11779866 - KLHL38 Q2WGJ6 VAR_060485 p.Ile334Val LB/B rs11784192 - KLHL38 Q2WGJ6 VAR_060486 p.Arg346Lys LB/B rs11780509 - KLHL40 Q2TBA0 VAR_030214 p.Asn345Ser LB/B rs6805421 - KLHL40 Q2TBA0 VAR_030215 p.Cys617Arg LB/B rs123509 - KLHL40 Q2TBA0 VAR_069836 p.Asp34His LP/P rs778565563 Nemaline myopathy 8 (NEM8) [MIM:615348] KLHL40 Q2TBA0 VAR_069837 p.Leu86Pro LP/P - Nemaline myopathy 8 (NEM8) [MIM:615348] KLHL40 Q2TBA0 VAR_069838 p.Val194Glu LP/P - Nemaline myopathy 8 (NEM8) [MIM:615348] KLHL40 Q2TBA0 VAR_069839 p.Trp201Leu LP/P rs397509420 Nemaline myopathy 8 (NEM8) [MIM:615348] KLHL40 Q2TBA0 VAR_069840 p.Arg311Leu LP/P rs774887948 Nemaline myopathy 8 (NEM8) [MIM:615348] KLHL40 Q2TBA0 VAR_069841 p.Pro397Leu LP/P rs773649133 Nemaline myopathy 8 (NEM8) [MIM:615348] KLHL40 Q2TBA0 VAR_069842 p.His455Arg LP/P rs770866675 Nemaline myopathy 8 (NEM8) [MIM:615348] KLHL40 Q2TBA0 VAR_069843 p.Gly469Cys LP/P rs367579275 Nemaline myopathy 8 (NEM8) [MIM:615348] KLHL40 Q2TBA0 VAR_069844 p.Thr506Pro LP/P rs778022582 Nemaline myopathy 8 (NEM8) [MIM:615348] KLHL40 Q2TBA0 VAR_069845 p.Glu528Lys LP/P rs397509419 Nemaline myopathy 8 (NEM8) [MIM:615348] KLHL40 Q2TBA0 VAR_069846 p.Ala538Pro LP/P rs397509421 Nemaline myopathy 8 (NEM8) [MIM:615348] KLHL40 Q2TBA0 VAR_069847 p.Glu588Lys LP/P rs201856772 Nemaline myopathy 8 (NEM8) [MIM:615348] KLHL40 Q2TBA0 VAR_077951 p.Arg500Cys US rs758188096 Nemaline myopathy 8 (NEM8) [MIM:615348] KLHL40 Q2TBA0 VAR_077952 p.Ala505Pro LP/P - Nemaline myopathy 8 (NEM8) [MIM:615348] KLHL41 O60662 VAR_050046 p.Ala271Thr LB/B rs28763868 - KLHL41 O60662 VAR_050047 p.Met481Val LB/B rs34623017 - KLHL41 O60662 VAR_071824 p.Ser413Leu LP/P rs730882260 Nemaline myopathy 9 (NEM9) [MIM:615731] KLHL5 Q96PQ7 VAR_033985 p.Gly508Ser LB/B rs34646863 - KLHL5 Q96PQ7 VAR_050048 p.Ile10Leu LB/B rs2711941 - KLHL6 Q8WZ60 VAR_056125 p.Ile518Val LB/B rs35354575 - KLHL7 Q8IXQ5 VAR_060672 p.Ser150Asn LP/P rs137853112 Retinitis pigmentosa 42 (RP42) [MIM:612943] KLHL7 Q8IXQ5 VAR_060673 p.Ala153Thr LP/P rs137853114 Retinitis pigmentosa 42 (RP42) [MIM:612943] KLHL7 Q8IXQ5 VAR_060674 p.Ala153Val LP/P rs137853113 Retinitis pigmentosa 42 (RP42) [MIM:612943] KLHL7 Q8IXQ5 VAR_060675 p.Asp255Asn US rs1227070758 - KLHL7 Q8IXQ5 VAR_060676 p.His423Tyr LB/B - - KLHL7 Q8IXQ5 VAR_060677 p.Lys472Gln US - - KLHL7 Q8IXQ5 VAR_077161 p.Arg372Gln LP/P rs879255558 Perching syndrome (PERCHING) [MIM:617055] KLHL7 Q8IXQ5 VAR_077162 p.Arg420Cys LP/P rs780705654 Perching syndrome (PERCHING) [MIM:617055] KLHL7 Q8IXQ5 VAR_077163 p.Cys421Ser LP/P rs879255556 Perching syndrome (PERCHING) [MIM:617055] KLHL8 Q9P2G9 VAR_030012 p.Pro520Arg LB/B rs17854114 - KLK1 P06870 VAR_006625 p.Glu145Gln LB/B rs5516 - KLK1 P06870 VAR_006626 p.Lys186Glu LB/B rs5517 - KLK1 P06870 VAR_014567 p.Arg77His LB/B rs5515 - KLK1 P06870 VAR_014568 p.Val193Glu LB/B rs5518 - KLK10 O43240 VAR_027979 p.Ser50Ala LB/B rs3745535 - KLK10 O43240 VAR_027980 p.Leu149Pro LB/B rs2075690 - KLK11 Q9UBX7 VAR_021943 p.Gly49Glu LB/B rs3745539 - KLK11 Q9UBX7 VAR_024296 p.Arg166Cys LB/B rs1048328 - KLK11 Q9UBX7 VAR_051856 p.Ala32Thr LB/B rs2288892 - KLK13 Q9UKR3 VAR_051857 p.His109Tyr LB/B rs34089525 - KLK14 Q9P0G3 VAR_058018 p.Gln33Arg LB/B rs35287116 - KLK14 Q9P0G3 VAR_058019 p.His45Tyr LB/B rs2569491 - KLK14 Q9P0G3 VAR_058020 p.Arg64His LB/B rs2569490 - KLK15 Q9H2R5 VAR_020179 p.Pro134Leu LB/B rs3212805 - KLK15 Q9H2R5 VAR_036298 p.Ala137Thr US - A breast cancer sample KLK2 P20151 VAR_014164 p.Val18Leu LB/B rs6072 - KLK2 P20151 VAR_020178 p.Arg250Trp LB/B rs198977 - KLK2 P20151 VAR_061775 p.Asp255Ala LB/B rs60268688 - KLK3 P07288 VAR_021941 p.Glu32Lys LB/B rs2271092 - KLK3 P07288 VAR_021942 p.Leu132Ile LB/B rs2003783 - KLK3 P07288 VAR_051852 p.Ile179Thr LB/B rs17632542 - KLK4 Q9Y5K2 VAR_028364 p.Ser22Ala LB/B rs1654551 - KLK4 Q9Y5K2 VAR_028365 p.His197Gln LB/B rs2569527 - KLK4 Q9Y5K2 VAR_033009 p.Gly159Asp LB/B rs34626614 - KLK5 Q9Y337 VAR_051853 p.Gly55Arg LB/B rs2232532 - KLK5 Q9Y337 VAR_051854 p.Asp153Asn LB/B rs183854 - KLK6 Q92876 VAR_061776 p.Arg78Trp LB/B rs61469141 - KLK8 O60259 VAR_051855 p.Val154Ile LB/B rs16988799 - KLKB1 P03952 VAR_013598 p.Ser143Asn LB/B rs3733402 - KLKB1 P03952 VAR_013599 p.His202Gln LB/B rs4253373 - KLKB1 P03952 VAR_013600 p.His208Pro LB/B rs145640112 - KLKB1 P03952 VAR_016280 p.Ala178Thr LB/B rs4253257 - KLKB1 P03952 VAR_016281 p.Ser269Cys LB/B rs4253376 - KLKB1 P03952 VAR_016282 p.Phe311Val LB/B rs4253377 - KLKB1 P03952 VAR_016283 p.Thr358Ala LB/B rs4253379 - KLKB1 P03952 VAR_016284 p.Ser381Ala LB/B rs4253301 - KLKB1 P03952 VAR_016285 p.Gln442Pro LB/B rs4253316 - KLKB1 P03952 VAR_016286 p.Arg560Gln LB/B rs4253325 - KLKB1 P03952 VAR_020180 p.Ala210Glu LB/B rs2278542 - KLKB1 P03952 VAR_054907 p.Gly123Arg US rs121964952 Prekallikrein deficiency (PKKD) [MIM:612423] KLKB1 P03952 VAR_054908 p.Cys548Tyr LP/P rs121964951 Prekallikrein deficiency (PKKD) [MIM:612423] KLRB1 Q12918 VAR_028981 p.Ile168Thr LB/B rs1135816 - KLRC1 P26715 VAR_050120 p.Asn29Ser LB/B rs2253849 - KLRC2 P26717 VAR_013404 p.Asn2Ser LB/B rs28403159 - KLRC2 P26717 VAR_013405 p.Phe102Ser LB/B rs1141715 - KLRC3 Q07444 VAR_013296 p.Trp19Pro LB/B rs796361824 - KLRC3 Q07444 VAR_014660 p.Arg135Ser LB/B rs1138437 - KLRC3 Q07444 VAR_062954 p.Ser2Asn LB/B rs2682489 - KLRC3 Q07444 VAR_062955 p.His113Pro LB/B rs2682494 - KLRC3 Q07444 VAR_062956 p.Cys155Ser LB/B rs2682495 - KLRC3 Q07444 VAR_063132 p.Trp19Arg LB/B rs2682490 - KLRC3 Q07444 VAR_063133 p.Ala106Thr LB/B rs28626640 - KLRC4 O43908 VAR_013406 p.Ile29Ser LB/B rs1841958 - KLRC4 O43908 VAR_013407 p.Asn104Ser LB/B rs2617170 - KLRD1 Q13241 VAR_050103 p.Ser25Ala LB/B rs10772256 - KLRF1 Q9NZS2 VAR_047544 p.Leu67Phe LB/B rs2232548 - KLRG1 Q96E93 VAR_042750 p.Trp58Arg LB/B rs1805749 - KLRG2 A4D1S0 VAR_038396 p.Lys152Thr LB/B rs1860150 - KLRG2 A4D1S0 VAR_038397 p.Gly339Ala LB/B rs17160911 - KLRK1 P26718 VAR_013295 p.Thr72Ala LB/B rs2255336 - KLRK1 P26718 VAR_030738 p.Asn177Ser LB/B rs2306182 - KMO O15229 VAR_030845 p.Arg452Cys LB/B rs1053230 - KMT2A Q03164 VAR_021317 p.Ala30Gly LB/B rs9332745 - KMT2A Q03164 VAR_021318 p.Ala53Val LB/B rs9332747 - KMT2A Q03164 VAR_021319 p.Glu502Lys LB/B rs9332772 - KMT2A Q03164 VAR_021320 p.Ser2319Thr LB/B rs9332837 - KMT2A Q03164 VAR_021321 p.Pro2354Arg LB/B rs9332838 - KMT2A Q03164 VAR_021322 p.Gln2387Arg LB/B rs9332839 - KMT2A Q03164 VAR_021323 p.Val3714Ile LB/B rs9332859 - KMT2A Q03164 VAR_021324 p.Ser3773Ala LB/B rs9332861 - KMT2A Q03164 VAR_052652 p.Gln1975Pro LB/B rs693598 - KMT2B Q9UMN6 VAR_046563 p.Pro587Arg LB/B rs2242519 - KMT2B Q9UMN6 VAR_046564 p.Pro754Leu LB/B rs179686 - KMT2B Q9UMN6 VAR_046565 p.Pro1097Leu LB/B rs34014681 - KMT2B Q9UMN6 VAR_052653 p.Pro1829Leu LB/B rs16970649 - KMT2B Q9UMN6 VAR_052654 p.Asp2364Gly LB/B rs231591 - KMT2B Q9UMN6 VAR_052655 p.Lys2408Asn LB/B rs36062432 - KMT2B Q9UMN6 VAR_061913 p.Thr172Ile LB/B rs60207923 - KMT2B Q9UMN6 VAR_080237 p.Gly1652Asp US rs1555731832 Dystonia 28, childhood-onset (DYT28) [MIM:617284] KMT2B Q9UMN6 VAR_080238 p.Phe1662Leu US rs372432644 Dystonia 28, childhood-onset (DYT28) [MIM:617284] KMT2B Q9UMN6 VAR_080239 p.Arg1705Gln US rs1555731980 Dystonia 28, childhood-onset (DYT28) [MIM:617284] KMT2B Q9UMN6 VAR_080240 p.Arg1762Cys US rs1489232377 Dystonia 28, childhood-onset (DYT28) [MIM:617284] KMT2B Q9UMN6 VAR_080241 p.Leu1781Pro US rs1555732094 Dystonia 28, childhood-onset (DYT28) [MIM:617284] KMT2B Q9UMN6 VAR_080242 p.Arg2517Trp US rs1057519285 Dystonia 28, childhood-onset (DYT28) [MIM:617284] KMT2B Q9UMN6 VAR_080243 p.Ile2674Thr US rs1555735051 Dystonia 28, childhood-onset (DYT28) [MIM:617284] KMT2B Q9UMN6 VAR_081649 p.Thr215Asn LB/B - - KMT2B Q9UMN6 VAR_087545 p.Cys1222Tyr LP/P - Intellectual developmental disorder, autosomal dominant 68 (MRD68) [MIM:619934] KMT2B Q9UMN6 VAR_087547 p.Arg1597Trp LP/P rs1239076295 Intellectual developmental disorder, autosomal dominant 68 (MRD68) [MIM:619934] KMT2B Q9UMN6 VAR_087548 p.Cys1682Trp LP/P - Intellectual developmental disorder, autosomal dominant 68 (MRD68) [MIM:619934] KMT2C Q8NEZ4 VAR_017117 p.Ile823Thr LB/B rs2838171 - KMT2C Q8NEZ4 VAR_017118 p.Ile823Asn LB/B rs2838171 - KMT2C Q8NEZ4 VAR_036311 p.Cys347Gly US - A colorectal cancer sample KMT2C Q8NEZ4 VAR_036312 p.Asp400Asn US - A colorectal cancer sample KMT2C Q8NEZ4 VAR_036313 p.Leu478Trp US - A colorectal cancer sample KMT2C Q8NEZ4 VAR_036314 p.Thr3698Ser US - A colorectal cancer sample KMT2C Q8NEZ4 VAR_057360 p.Arg526Pro LB/B rs3735156 - KMT2C Q8NEZ4 VAR_057361 p.Ser1836Asn LB/B rs11771635 - KMT2C Q8NEZ4 VAR_057362 p.Thr2008Ala LB/B rs6951159 - KMT2C Q8NEZ4 VAR_057363 p.Pro2412Thr LB/B rs13231116 - KMT2C Q8NEZ4 VAR_057364 p.Pro2600Ala LB/B rs2270234 - KMT2C Q8NEZ4 VAR_061911 p.Leu291Phe LB/B rs56850341 - KMT2C Q8NEZ4 VAR_061912 p.Thr316Ser LB/B rs10454320 - KMT2D O14686 VAR_017115 p.Arg5224His LB/B rs3782356 - KMT2D O14686 VAR_057359 p.Ala476Thr LB/B rs1064210 - KMT2D O14686 VAR_063830 p.Cys5109Phe LP/P - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_063831 p.Arg5179His LP/P rs267607237 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_063832 p.Arg5214His LP/P rs398123729 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_063833 p.Arg5340Leu LP/P - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_063834 p.Thr5464Met LP/P rs267607238 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_064370 p.Pro692Thr LB/B rs202076833 - KMT2D O14686 VAR_064371 p.Pro813Leu LB/B rs75226229 - KMT2D O14686 VAR_064372 p.Pro2382Ser LB/B rs3741626 - KMT2D O14686 VAR_064373 p.Arg2460Cys LB/B rs570260017 - KMT2D O14686 VAR_064374 p.Pro2557Leu LB/B rs189888707 - KMT2D O14686 VAR_064375 p.Met3398Val LB/B rs75937132 - KMT2D O14686 VAR_064376 p.Asp3419Gly LB/B rs146044282 - KMT2D O14686 VAR_064377 p.Arg4357Ser LB/B rs533214351 - KMT2D O14686 VAR_064378 p.Tyr5210Cys US rs1942587772 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_064379 p.Gly5428Asp US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074216 p.Gln170His US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074217 p.Gln170Leu US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074218 p.Ser337Leu US rs200245957 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074219 p.Ser543Leu US rs776242478 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074220 p.Pro647Gln LP/P rs200088180 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074221 p.Val1192Met US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074222 p.Arg1258Gln US rs1341612248 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074223 p.Met1376Arg US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074224 p.Cys1380Arg US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074225 p.Arg1388Leu US rs202217665 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074226 p.Met1417Val US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074227 p.Leu1418Met US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074228 p.Arg1423Cys US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074229 p.Cys1424Phe US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074230 p.Cys1430Arg US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074231 p.Cys1445Gly US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074232 p.His1453Arg US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074233 p.Cys1471Arg US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074234 p.Cys1471Tyr US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074235 p.Gln1522Arg US rs1592145879 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074236 p.Cys1526Phe US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074237 p.Ala1718Val US rs111266743 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074238 p.Met2652Leu LB/B rs147706410 - KMT2D O14686 VAR_074239 p.Pro2841Thr US rs763347763 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074240 p.Leu3876Arg US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074241 p.Leu3897Ser US rs1342235871 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074242 p.Ser4010Pro LB/B rs80132640 - KMT2D O14686 VAR_074243 p.Pro4353Leu US rs778418522 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074244 p.Arg4420Gln US rs375999143 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074245 p.Asp5028Glu US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074246 p.Arg5030Cys LP/P rs1555185875 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074247 p.Phe5034Val US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074248 p.Asp5040Gly US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074249 p.Ala5047Val US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074250 p.Arg5048Cys LP/P rs398123724 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074251 p.Arg5048His LP/P rs886041404 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074252 p.His5059Pro US - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074253 p.Arg5154Gln LP/P rs886043497 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074254 p.Gly5189Arg US rs1555185701 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074255 p.Arg5214Cys LP/P rs398123728 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074256 p.Arg5340Gln US rs1565756106 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074257 p.Arg5351Gln US rs1555185217 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074258 p.Arg5432Trp US rs1565753611 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074259 p.Arg5471Thr LP/P - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074260 p.Cys5481Tyr US rs1388523736 Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_074261 p.Ser5498Phe LP/P - Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D O14686 VAR_087954 p.Leu3525Pro LP/P - Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) [MIM:620186] KMT2D O14686 VAR_087955 p.Leu3528Val LP/P - Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) [MIM:620186] KMT2D O14686 VAR_087956 p.Ala3541Pro LP/P - Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) [MIM:620186] KMT2D O14686 VAR_087957 p.Leu3542Pro LP/P - Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) [MIM:620186] KMT2D O14686 VAR_087958 p.Gly3553Val LP/P - Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) [MIM:620186] KMT2D O14686 VAR_087959 p.Leu3564Val LP/P - Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) [MIM:620186] KMT2D O14686 VAR_087960 p.Glu3569Gly US - Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) [MIM:620186] KMT2D O14686 VAR_087961 p.Arg3582Gln LP/P - Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) [MIM:620186] KMT2D O14686 VAR_087962 p.Arg3582Trp LP/P rs1943085639 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) [MIM:620186] KMT2E Q8IZD2 VAR_052656 p.Ser1424Pro LB/B rs35605511 - KMT2E Q8IZD2 VAR_083126 p.Val140Ile LP/P rs74375534 O'Donnell-Luria-Rodan syndrome (ODLURO) [MIM:618512] KMT2E Q8IZD2 VAR_083128 p.Tyr284His LP/P rs868001076 O'Donnell-Luria-Rodan syndrome (ODLURO) [MIM:618512] KMT2E Q8IZD2 VAR_083132 p.Asp907Val LP/P rs1584803942 O'Donnell-Luria-Rodan syndrome (ODLURO) [MIM:618512] KMT2E Q8IZD2 VAR_083136 p.Pro1376Leu LB/B rs140764929 - KMT2E Q8IZD2 VAR_083137 p.Pro1376Ser LP/P rs1584816566 O'Donnell-Luria-Rodan syndrome (ODLURO) [MIM:618512] KMT5B Q4FZB7 VAR_047765 p.Asn9Ile LB/B rs2512606 - KMT5B Q4FZB7 VAR_080549 p.Trp264Ser US rs1555028104 Intellectual developmental disorder, autosomal dominant 51 (MRD51) [MIM:617788] KMT5B Q4FZB7 VAR_080550 p.Ala513Val US rs377163167 Intellectual developmental disorder, autosomal dominant 51 (MRD51) [MIM:617788] KMT5B Q4FZB7 VAR_080551 p.Arg540Gln US rs565603169 Intellectual developmental disorder, autosomal dominant 51 (MRD51) [MIM:617788] KNDC1 Q76NI1 VAR_035358 p.Glu436Gly LB/B rs3810964 - KNDC1 Q76NI1 VAR_035359 p.Gly581Ser LB/B rs35152544 - KNDC1 Q76NI1 VAR_035360 p.Leu717Pro LB/B rs2998139 - KNDC1 Q76NI1 VAR_051902 p.Ala1332Thr LB/B rs11101642 - KNDC1 Q76NI1 VAR_061786 p.Arg1038Trp LB/B rs35604376 - KNG1 P01042 VAR_019277 p.Gly163Ser LB/B rs5030015 - KNG1 P01042 VAR_019278 p.Met178Thr LB/B rs1656922 - KNG1 P01042 VAR_019279 p.Leu212Pro LB/B rs5030024 - KNG1 P01042 VAR_028937 p.Ile197Met LB/B rs2304456 - KNG1 P01042 VAR_048853 p.Asp430Glu LB/B rs5030084 - KNG1 P01042 VAR_048854 p.Ile581Thr LB/B rs710446 - KNG1 P01042 VAR_048855 p.Gly642Ala LB/B rs5030087 - KNG1 P01042 VAR_085817 p.Met379Lys LP/P - Angioedema, hereditary, 6 (HAE6) [MIM:619363] KNG1 P01042 VAR_085818 p.Pro574Ala US - Angioedema, hereditary, 6 (HAE6) [MIM:619363] KNL1 Q8NG31 VAR_026428 p.Arg43Thr LB/B rs7177192 - KNL1 Q8NG31 VAR_026429 p.Thr70Ala LB/B rs16970874 - KNL1 Q8NG31 VAR_026430 p.Thr113Ala LB/B rs12911738 - KNL1 Q8NG31 VAR_026431 p.Ala486Ser LB/B rs2412541 - KNL1 Q8NG31 VAR_026432 p.Arg936Gly LB/B rs8040502 - KNL1 Q8NG31 VAR_026433 p.Lys1285Glu LB/B rs17747633 - KNL1 Q8NG31 VAR_026434 p.Thr1473Ala LB/B rs16970911 - KNL1 Q8NG31 VAR_054342 p.Met598Thr LB/B rs11858113 - KNL1 Q8NG31 VAR_061568 p.Met177Val LB/B rs35146555 - KNL1 Q8NG31 VAR_061569 p.Leu1190Val LB/B rs58614880 - KNL1 Q8NG31 VAR_061570 p.Cys2338Tyr LB/B rs61164860 - KNL1 Q8NG31 VAR_069085 p.Met2041Ile LP/P rs763915472 Microcephaly 4, primary, autosomal recessive (MCPH4) [MIM:604321] KNOP1 Q1ED39 VAR_039387 p.Ala266Val LB/B rs2074036 - KNOP1 Q1ED39 VAR_061716 p.Arg28Gln LB/B rs11640454 - KNOP1 Q1ED39 VAR_061717 p.Val276Ala LB/B rs28424569 - KNSTRN Q9Y448 VAR_030304 p.Ala40Glu LB/B rs7164132 - KNSTRN Q9Y448 VAR_030305 p.Arg75Leu LB/B rs7169404 - KNSTRN Q9Y448 VAR_030306 p.Pro92Ser LB/B rs7169262 - KNSTRN Q9Y448 VAR_071857 p.Ser24Phe LB/B rs868438023 - KNTC1 P50748 VAR_051082 p.Lys245Asn LB/B rs7968222 - KNTC1 P50748 VAR_051083 p.Glu738Asp LB/B rs17883249 - KNTC1 P50748 VAR_051084 p.Thr1506Met LB/B rs35315099 - KNTC1 P50748 VAR_051085 p.Pro1830Leu LB/B rs7310898 - KNTC1 P50748 VAR_051086 p.Val2021Gly LB/B rs11837038 - KPLCE Q5T750 VAR_059739 p.Ser26Thr LB/B rs1332500 - KPLCE Q5T750 VAR_059740 p.Thr159Pro LB/B rs873775 - KPLCE Q5T750 VAR_061726 p.Leu173Val LB/B rs59194678 - KPNA1 P52294 VAR_050002 p.Ser73Asn LB/B rs4678193 - KPNA2 P52292 VAR_013137 p.Pro165Arg LB/B rs11545989 - KPNA2 P52292 VAR_067625 p.Ala157Val LB/B rs17850032 - KPNA2 P52292 VAR_067626 p.Gly365Ser LB/B rs1059558 - KPNA2 P52292 VAR_067627 p.Lys453Asn LB/B rs17850031 - KPNA3 O00505 VAR_014454 p.Pro291Ser LB/B rs1043015 - KPNA3 O00505 VAR_087813 p.Thr315Ile LP/P - Spastic paraplegia 88, autosomal dominant (SPG88) [MIM:620106] KPNA3 O00505 VAR_087814 p.Leu328Met LP/P - Spastic paraplegia 88, autosomal dominant (SPG88) [MIM:620106] KPNA3 O00505 VAR_087815 p.Leu328Pro LP/P - Spastic paraplegia 88, autosomal dominant (SPG88) [MIM:620106] KPNA3 O00505 VAR_087816 p.Leu334Arg LP/P - Spastic paraplegia 88, autosomal dominant (SPG88) [MIM:620106] KPNA3 O00505 VAR_087817 p.Leu350Pro LP/P - Spastic paraplegia 88, autosomal dominant (SPG88) [MIM:620106] KPNA3 O00505 VAR_087818 p.Pro415Leu LP/P - Spastic paraplegia 88, autosomal dominant (SPG88) [MIM:620106] KPNA5 O15131 VAR_036245 p.Phe48Leu US - A breast cancer sample KPNA5 O15131 VAR_036246 p.Arg319Ser US - A breast cancer sample KPNA7 A9QM74 VAR_088429 p.Val152Met US - Oocyte/zygote/embryo maturation arrest 17 (OZEMA17) [MIM:620319] KPNA7 A9QM74 VAR_088430 p.Gln175Lys US - Oocyte/zygote/embryo maturation arrest 17 (OZEMA17) [MIM:620319] KPNA7 A9QM74 VAR_088431 p.Leu203Phe US - Oocyte/zygote/embryo maturation arrest 17 (OZEMA17) [MIM:620319] KPNA7 A9QM74 VAR_088432 p.Pro212Leu US - Oocyte/zygote/embryo maturation arrest 17 (OZEMA17) [MIM:620319] KPRP Q5T749 VAR_029840 p.Gln14His LB/B rs17612167 - KPRP Q5T749 VAR_029841 p.Val37Ala LB/B rs944683 - KPRP Q5T749 VAR_029842 p.Cys113Arg LB/B rs16834457 - KPRP Q5T749 VAR_029843 p.Arg168His LB/B rs16834461 - KPRP Q5T749 VAR_029844 p.Cys413Ser LB/B rs4329520 - KPRP Q5T749 VAR_029845 p.Pro532Thr LB/B rs6703294 - KRAS P01116 VAR_006839 p.Gly12Cys US rs121913530 Lung carcinoma KRAS P01116 VAR_006840 p.Gly12Val LP/P rs121913529 Gastric cancer (GASC) [MIM:613659] KRAS P01116 VAR_006841 p.Gln61His US rs17851045 Lung carcinoma KRAS P01116 VAR_016026 p.Gly12Asp LP/P rs121913529 Gastric cancer (GASC) [MIM:613659] KRAS P01116 VAR_016026 p.Gly12Asp LP/P rs121913529 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] KRAS P01116 VAR_016026 p.Gly12Asp LP/P rs121913529 Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200] KRAS P01116 VAR_016027 p.Gly12Arg US rs121913530 Bladder cancer KRAS P01116 VAR_016027 p.Gly12Arg US rs121913530 Lung cancer KRAS P01116 VAR_016028 p.Gly12Ser LP/P rs121913530 Gastric cancer (GASC) [MIM:613659] KRAS P01116 VAR_016028 p.Gly12Ser LP/P rs121913530 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] KRAS P01116 VAR_016029 p.Gly13Asp LP/P rs112445441 Gastric cancer (GASC) [MIM:613659] KRAS P01116 VAR_016029 p.Gly13Asp LP/P rs112445441 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] KRAS P01116 VAR_016029 p.Gly13Asp LP/P rs112445441 Oculoectodermal syndrome (OES) [MIM:600268] KRAS P01116 VAR_016030 p.Ala59Thr LP/P rs121913528 Gastric cancer (GASC) [MIM:613659] KRAS P01116 VAR_026109 p.Val14Ile LP/P rs104894365 Noonan syndrome 3 (NS3) [MIM:609942] KRAS P01116 VAR_026110 p.Pro34Arg LP/P rs104894366 Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] KRAS P01116 VAR_026111 p.Thr58Ile LP/P rs104894364 Noonan syndrome 3 (NS3) [MIM:609942] KRAS P01116 VAR_026112 p.Gly60Arg LP/P rs104894359 Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] KRAS P01116 VAR_036305 p.Gly12Ala US rs121913529 Colorectal cancer samples KRAS P01116 VAR_036306 p.Gln61Arg US rs121913240 A colorectal cancer sample KRAS P01116 VAR_036307 p.Lys117Asn US rs770248150 Colorectal cancer samples KRAS P01116 VAR_036308 p.Ala146Thr LP/P rs121913527 Oculoectodermal syndrome (OES) [MIM:600268] KRAS P01116 VAR_064849 p.Lys5Asn LP/P rs104894361 Gastric cancer (GASC) [MIM:613659] KRAS P01116 VAR_064850 p.Gln22Glu LP/P rs121913236 Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] KRAS P01116 VAR_064851 p.Gln22Arg LP/P rs727503110 Noonan syndrome 3 (NS3) [MIM:609942] KRAS P01116 VAR_064852 p.Pro34Leu LP/P rs104894366 Noonan syndrome 3 (NS3) [MIM:609942] KRAS P01116 VAR_064853 p.Pro34Gln LP/P - Noonan syndrome 3 (NS3) [MIM:609942] KRAS P01116 VAR_064854 p.Ile36Met LP/P rs727503109 Noonan syndrome 3 (NS3) [MIM:609942] KRAS P01116 VAR_065144 p.Lys5Glu LP/P rs193929331 Noonan syndrome 3 (NS3) [MIM:609942] KRAS P01116 VAR_065145 p.Gly13Arg LB/B rs121913535 - KRAS P01116 VAR_065146 p.Gly60Ser LP/P rs104894359 Noonan syndrome 3 (NS3) [MIM:609942] KRAS P01116 VAR_069784 p.Tyr71His LP/P rs387907205 Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] KRAS P01116 VAR_069785 p.Lys147Glu LP/P rs387907206 Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] KRAS P01116 VAR_083261 p.Leu19Phe LP/P rs121913538 Oculoectodermal syndrome (OES) [MIM:600268] KRAS P01116 VAR_083262 p.Ala146Val LP/P rs1057519725 Oculoectodermal syndrome (OES) [MIM:600268] KRBA1 A5PL33 VAR_056922 p.His320Arg LB/B rs7791608 - KRBA1 A5PL33 VAR_068701 p.Asp661Glu LB/B rs709065 - KRBA2 Q6ZNG9 VAR_051087 p.Thr435Met LB/B rs370752 - KREMEN1 Q96MU8 VAR_078807 p.Phe207Ser LP/P rs1057524917 Ectodermal dysplasia 13, hair/tooth type (ECTD13) [MIM:617392] KREMEN2 Q8NCW0 VAR_059691 p.Ala408Pro LB/B rs11866302 - KRI1 Q8N9T8 VAR_034751 p.Gly138Arg LB/B rs12984043 - KRI1 Q8N9T8 VAR_034752 p.Glu179Ala LB/B rs11545166 - KRI1 Q8N9T8 VAR_034753 p.Glu266Lys LB/B rs3745249 - KRI1 Q8N9T8 VAR_034754 p.Ser309Leu LB/B rs34743532 - KRI1 Q8N9T8 VAR_034755 p.Arg336Trp LB/B rs33999611 - KRI1 Q8N9T8 VAR_034756 p.Glu349Gln LB/B rs3826709 - KRI1 Q8N9T8 VAR_034757 p.Leu445Pro LB/B rs1982074 - KRI1 Q8N9T8 VAR_034758 p.Ser703Pro LB/B rs3087689 - KRIT1 O00522 VAR_023573 p.Phe97Ser LP/P - Cerebral cavernous malformations 1 (CCM1) [MIM:116860] KRIT1 O00522 VAR_023574 p.Lys569Glu LP/P - Cerebral cavernous malformations 1 (CCM1) [MIM:116860] KRR1 Q13601 VAR_049680 p.Arg134Gln LB/B rs11540407 - KRT1 P04264 VAR_003853 p.Val155Gly LP/P rs57959072 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_003854 p.Leu161Pro LP/P rs57695159 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_003855 p.Ser186Pro LP/P rs60022878 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_003856 p.Asn188Ser LP/P rs58928370 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_003857 p.Ser193Pro LP/P rs60937700 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_003858 p.Ile312Val LB/B - - KRT1 P04264 VAR_003859 p.Ile330Thr LB/B - - KRT1 P04264 VAR_003860 p.Tyr358Asn LB/B rs1050872 - KRT1 P04264 VAR_003861 p.Glu490Gln LP/P rs60279707 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_003862 p.Gly537Cys LB/B - - KRT1 P04264 VAR_003863 p.Lys633Arg LB/B rs14024 - KRT1 P04264 VAR_017819 p.Lys74Ile LP/P rs57977969 Keratoderma, palmoplantar, non-epidermolytic (NEPPK) [MIM:600962] KRT1 P04264 VAR_017820 p.Val155Asp LP/P rs57959072 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_017821 p.Asn188Lys LP/P rs59429455 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_017822 p.Asn188Thr LP/P rs58928370 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_017823 p.Leu214Pro LP/P rs61549035 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_017824 p.Asp340Val LP/P rs58062863 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_017825 p.Ile479Phe LP/P rs61218439 Ichthyosis, annular epidermolytic, 2 (AEI2) [MIM:620148] KRT1 P04264 VAR_017826 p.Ile479Thr LP/P rs57837128 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_017826 p.Ile479Thr LP/P rs57837128 Ichthyosis, annular epidermolytic, 2 (AEI2) [MIM:620148] KRT1 P04264 VAR_017827 p.Tyr482Cys LP/P rs58420087 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_017828 p.Leu486Pro LP/P rs56914602 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_038628 p.Ala454Ser LB/B rs17678945 - KRT1 P04264 VAR_071986 p.Glu478Gln LP/P rs59089201 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_071987 p.Leu485Pro LP/P rs267607430 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_071988 p.Glu490Lys LP/P rs60279707 Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1 P04264 VAR_088636 p.Ala436Asp US - Palmoplantar keratoderma, epidermolytic, 2 (EPPK2) [MIM:620411] KRT10 P13645 VAR_003826 p.Asn154His LP/P rs57784225 Epidermolytic hyperkeratosis 2 (EHK2) [MIM:620150] KRT10 P13645 VAR_003827 p.Arg156His LP/P rs58075662 Epidermolytic hyperkeratosis 2 (EHK2) [MIM:620150] KRT10 P13645 VAR_003828 p.Arg156Cys LP/P rs58852768 Epidermolytic hyperkeratosis 2 (EHK2) [MIM:620150] KRT10 P13645 VAR_003829 p.Arg156Pro LP/P rs58075662 Epidermolytic hyperkeratosis 2 (EHK2) [MIM:620150] KRT10 P13645 VAR_003830 p.Arg156Ser LP/P rs58852768 Epidermolytic hyperkeratosis 2 (EHK2) [MIM:620150] KRT10 P13645 VAR_003831 p.Tyr160Asp LP/P rs58414354 Epidermolytic hyperkeratosis 2 (EHK2) [MIM:620150] KRT10 P13645 VAR_003832 p.Leu161Ser LP/P rs60118264 Epidermolytic hyperkeratosis 2 (EHK2) [MIM:620150] KRT10 P13645 VAR_003833 p.Leu442Gln LP/P rs58026994 Epidermolytic hyperkeratosis 2 (EHK2) [MIM:620150] KRT10 P13645 VAR_010505 p.Gly126Ser LB/B rs77919366 - KRT10 P13645 VAR_010506 p.Met150Arg LP/P rs58901407 Epidermolytic hyperkeratosis 2 (EHK2) [MIM:620150] KRT10 P13645 VAR_010507 p.Met150Thr LP/P rs58901407 Epidermolytic hyperkeratosis 2 (EHK2) [MIM:620150] KRT10 P13645 VAR_010508 p.Tyr160Asn LP/P - Epidermolytic hyperkeratosis 2 (EHK2) [MIM:620150] KRT10 P13645 VAR_010509 p.Tyr160Ser LP/P rs58735429 Epidermolytic hyperkeratosis 2 (EHK2) [MIM:620150] KRT10 P13645 VAR_010510 p.Lys439Glu LP/P rs61434181 Epidermolytic hyperkeratosis 2 (EHK2) [MIM:620150] KRT10 P13645 VAR_010511 p.Ile446Thr LP/P rs62651994 Ichthyosis, annular epidermolytic, 1 (AEI1) [MIM:607602] KRT10 P13645 VAR_033145 p.Arg422Glu LP/P rs59075499 Ichthyosis, annular epidermolytic, 1 (AEI1) [MIM:607602] KRT10 P13645 VAR_058202 p.Ile101Ser LB/B rs4261597 - KRT10 P13645 VAR_060723 p.His487Tyr LB/B rs17855579 - KRT10 P13645 VAR_071985 p.Tyr449Cys LP/P rs267607383 Epidermolytic hyperkeratosis 2 (EHK2) [MIM:620150] KRT10 P13645 VAR_087806 p.Leu435Pro US - Ichthyosis histrix, Lambert type (IHL) [MIM:146600] KRT10 P13645 VAR_088516 p.Arg156Leu LP/P - Epidermolytic hyperkeratosis 2 (EHK2) [MIM:620150] KRT10-AS1 Q8N816 VAR_028835 p.Ile4Met LB/B rs17474506 - KRT10-AS1 Q8N816 VAR_028836 p.Tyr79His LB/B rs10558 - KRT10-AS1 Q8N816 VAR_028837 p.Leu95Arg LB/B rs1044806 - KRT12 Q99456 VAR_003834 p.Arg135Thr LP/P rs57218384 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_003835 p.Val143Leu LP/P rs58343600 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_008525 p.Arg135Ile LP/P rs57218384 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_008526 p.Arg135Gly LP/P rs58410481 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_008527 p.Leu140Arg LP/P rs58918655 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_008528 p.Tyr429Asp LP/P rs58162394 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_009547 p.Arg20Trp LB/B rs17566772 - KRT12 Q99456 VAR_013126 p.Met129Thr LP/P rs28936695 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_013127 p.Gln130Pro LP/P rs58864803 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_031394 p.Arg135Ser LP/P rs61282718 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_031395 p.Ala137Pro LP/P rs58038639 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_031397 p.Ile426Ser LP/P rs59350319 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_031398 p.Tyr429Cys LP/P rs59202432 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_049783 p.Pro15Ser LB/B rs11650915 - KRT12 Q99456 VAR_072069 p.Met129Val LP/P rs267607387 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_072070 p.Leu132Pro LP/P rs886038212 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_072071 p.Leu140Gln LP/P - Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_072072 p.Arg430Pro LP/P rs62635290 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_072073 p.Leu433Arg LP/P rs267607386 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_083313 p.Leu132Val LP/P - Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_083314 p.Asp248Asn US rs150674571 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12 Q99456 VAR_083315 p.Ile426Val US rs59465138 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT13 P13646 VAR_003836 p.Leu119Pro LP/P rs60440396 White sponge nevus 2 (WSN2) [MIM:615785] KRT13 P13646 VAR_016035 p.Met108Thr LP/P rs60364670 White sponge nevus 2 (WSN2) [MIM:615785] KRT13 P13646 VAR_016036 p.Asn112Ser LP/P rs59970018 White sponge nevus 2 (WSN2) [MIM:615785] KRT13 P13646 VAR_016037 p.Leu115Pro LP/P rs60906702 White sponge nevus 2 (WSN2) [MIM:615785] KRT13 P13646 VAR_023924 p.Leu111Pro LP/P rs59897026 White sponge nevus 2 (WSN2) [MIM:615785] KRT13 P13646 VAR_024488 p.Ala146Gly LB/B rs760134 - KRT13 P13646 VAR_059376 p.Phe81Tyr LB/B rs12150581 - KRT13 P13646 VAR_059377 p.Thr298Ala LB/B rs4796697 - KRT13 P13646 VAR_060724 p.Ala187Val LB/B rs9891361 - KRT13 P13646 VAR_086269 p.Arg114Cys US rs545085703 White sponge nevus 2 (WSN2) [MIM:615785] KRT13 P13646 VAR_086270 p.Arg114His US rs267607388 White sponge nevus 2 (WSN2) [MIM:615785] KRT13 P13646 VAR_086271 p.Tyr118Asp LP/P - White sponge nevus 2 (WSN2) [MIM:615785] KRT14 P02533 VAR_003837 p.Arg125Cys LP/P rs60399023 Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14 P02533 VAR_003838 p.Arg125His LP/P rs58330629 Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14 P02533 VAR_003839 p.Glu144Ala LP/P rs57121345 Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive (EBS1D) [MIM:601001] KRT14 P02533 VAR_003841 p.Met272Arg LP/P rs61371557 Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14 P02533 VAR_003841 p.Met272Arg LP/P rs61371557 Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B) [MIM:131900] KRT14 P02533 VAR_003843 p.Leu384Pro LP/P rs59629244 Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B) [MIM:131900] KRT14 P02533 VAR_003844 p.Tyr415His LP/P rs58380626 Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B) [MIM:131900] KRT14 P02533 VAR_003845 p.Leu419Gln LP/P rs57364972 Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14 P02533 VAR_010437 p.Ala94Thr LB/B rs3826550 - KRT14 P02533 VAR_010438 p.Lys116Asn LP/P rs59271739 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_010439 p.Met119Ile LP/P rs57358989 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_010440 p.Met119Thr LP/P rs28928893 Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14 P02533 VAR_010441 p.Gln120Arg LP/P rs60993843 Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14 P02533 VAR_010442 p.Leu122Phe LP/P rs59110575 Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14 P02533 VAR_010442 p.Leu122Phe LP/P rs59110575 Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B) [MIM:131900] KRT14 P02533 VAR_010443 p.Asn123Ser LP/P rs60171927 Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14 P02533 VAR_010444 p.Arg125Ser LP/P - Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14 P02533 VAR_010445 p.Tyr129Asp LP/P rs60470268 Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14 P02533 VAR_010446 p.Leu143Pro LP/P rs61326242 Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B) [MIM:131900] KRT14 P02533 VAR_010447 p.Ala247Asp LP/P rs147611635 Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B) [MIM:131900] KRT14 P02533 VAR_010448 p.Asp273Gly LP/P rs59375065 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_010449 p.Ala274Asp LP/P rs58785777 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_010450 p.Ile377Asn LP/P rs61536893 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_010451 p.Arg388Cys LP/P rs59966597 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_010452 p.Glu422Lys LP/P rs58762773 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_023719 p.Met119Val LP/P rs61263401 Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B) [MIM:131900] KRT14 P02533 VAR_023719 p.Met119Val LP/P rs61263401 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_023720 p.Asn123Lys LP/P rs3826549 Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14 P02533 VAR_023721 p.Arg125Gly LP/P rs60399023 Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14 P02533 VAR_023722 p.Leu130Pro US rs57522245 Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14 P02533 VAR_023723 p.Val133Leu LP/P rs61027685 Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B) [MIM:131900] KRT14 P02533 VAR_023723 p.Val133Leu LP/P rs61027685 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_023724 p.Leu408Met LP/P rs57200223 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_023725 p.Ala413Thr US rs59780231 Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B) [MIM:131900] KRT14 P02533 VAR_023725 p.Ala413Thr US rs59780231 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_027718 p.Arg211Pro LP/P rs60589227 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_027719 p.Met272Thr LP/P rs61371557 Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B) [MIM:131900] KRT14 P02533 VAR_027719 p.Met272Thr LP/P rs61371557 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_027721 p.Arg417Pro LP/P rs61085704 Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14 P02533 VAR_031635 p.Arg134Pro LP/P rs61540016 Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B) [MIM:131900] KRT14 P02533 VAR_031636 p.Arg148Cys LP/P rs58378809 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_031637 p.Arg388His LP/P rs58645163 Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive (EBS1D) [MIM:601001] KRT14 P02533 VAR_031638 p.Tyr415Cys LP/P rs59442925 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_031639 p.Arg416Pro LP/P rs60622724 Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14 P02533 VAR_033496 p.Val133Ala LB/B rs1555603282 - KRT14 P02533 VAR_049784 p.Glu215Lys LB/B rs11551755 - KRT14 P02533 VAR_055347 p.Cys63Tyr LB/B rs6503640 - KRT14 P02533 VAR_071705 p.Leu418Gln LP/P - Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_086617 p.Arg125Leu LB/B rs58330629 - KRT14 P02533 VAR_086618 p.Val133Met LP/P rs61027685 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_086619 p.Val270Ala LP/P - Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_086620 p.Val270Met LP/P rs58560979 Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14 P02533 VAR_086621 p.Ile377Thr US rs61536893 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14 P02533 VAR_086622 p.Ile412Phe US rs267607403 Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT15 P19012 VAR_047429 p.Thr147Ala LB/B rs1050784 - KRT15 P19012 VAR_047430 p.Lys416Arg LB/B rs2305556 - KRT15 P19012 VAR_047431 p.Ala421Gly LB/B rs897420 - KRT16 P08779 VAR_003846 p.Leu132Pro LP/P rs60944949 Pachyonychia congenita 1 (PC1) [MIM:167200] KRT16 P08779 VAR_009183 p.Asn125Ser LP/P rs60723330 Keratoderma, palmoplantar, non-epidermolytic, focal 1 (FNEPPK1) [MIM:613000] KRT16 P08779 VAR_009183 p.Asn125Ser LP/P rs60723330 Pachyonychia congenita 1 (PC1) [MIM:167200] KRT16 P08779 VAR_009184 p.Arg127Cys LP/P rs59856285 Keratoderma, palmoplantar, non-epidermolytic, focal 1 (FNEPPK1) [MIM:613000] KRT16 P08779 VAR_009184 p.Arg127Cys LP/P rs59856285 Pachyonychia congenita 1 (PC1) [MIM:167200] KRT16 P08779 VAR_012855 p.Gln122Pro LP/P rs59349773 Pachyonychia congenita 1 (PC1) [MIM:167200] KRT16 P08779 VAR_012856 p.Arg127Pro LP/P rs57424749 Pachyonychia congenita 1 (PC1) [MIM:167200] KRT16 P08779 VAR_013837 p.Leu124Arg LP/P rs58293603 Pachyonychia congenita 1 (PC1) [MIM:167200] KRT16 P08779 VAR_017065 p.Met121Thr LP/P rs28928894 Pachyonychia congenita 1 (PC1) [MIM:167200] KRT16 P08779 VAR_017066 p.Leu128Gln LP/P rs28928895 Pachyonychia congenita 1 (PC1) [MIM:167200] KRT16 P08779 VAR_017067 p.Lys354Asn LP/P rs59328451 Pachyonychia congenita 1 (PC1) [MIM:167200] KRT16 P08779 VAR_072436 p.Leu124His LP/P rs58293603 Pachyonychia congenita 1 (PC1) [MIM:167200] KRT16 P08779 VAR_072437 p.Leu124Pro LP/P rs58293603 Pachyonychia congenita 1 (PC1) [MIM:167200] KRT16 P08779 VAR_072438 p.Asn125Asp LP/P rs58608173 Pachyonychia congenita 1 (PC1) [MIM:167200] KRT16 P08779 VAR_072439 p.Asn125Gly LP/P rs587777717 Pachyonychia congenita 1 (PC1) [MIM:167200] KRT16 P08779 VAR_072440 p.Leu421Pro LP/P - Pachyonychia congenita 1 (PC1) [MIM:167200] KRT17 Q04695 VAR_003847 p.Asn92Asp LP/P rs28928896 Pachyonychia congenita 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_003848 p.Asn92His LP/P rs28928896 Steatocystoma multiplex (SM) [MIM:184500] KRT17 Q04695 VAR_003849 p.Asn92Ser LP/P rs59151893 Pachyonychia congenita 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_003850 p.Arg94His LP/P rs28928897 Pachyonychia congenita 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_003850 p.Arg94His LP/P rs28928897 Steatocystoma multiplex (SM) [MIM:184500] KRT17 Q04695 VAR_003851 p.Tyr98Asp LP/P rs28933088 Pachyonychia congenita 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_010512 p.Met88Thr LP/P rs28928898 Pachyonychia congenita 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_010512 p.Met88Thr LP/P rs28928898 Steatocystoma multiplex (SM) [MIM:184500] KRT17 Q04695 VAR_010513 p.Arg94Cys LP/P rs58730926 Pachyonychia congenita 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_010513 p.Arg94Cys LP/P rs58730926 Steatocystoma multiplex (SM) [MIM:184500] KRT17 Q04695 VAR_017068 p.Arg94Pro LP/P rs28928897 Pachyonychia congenita 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_017070 p.Leu95Gln LP/P rs28928899 Pachyonychia congenita 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_017071 p.Leu95Pro LP/P rs28928899 Pachyonychia congenita 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_017073 p.Leu99Pro LP/P rs28933089 Pachyonychia congenita 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_017074 p.Val102Met LP/P rs59977263 Pachyonychia congenita 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_037083 p.Asn109Asp LP/P rs267607412 Pachyonychia congenita 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_072441 p.Met88Lys LP/P rs28928898 Pachyonychia congenita 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_072442 p.Leu91Pro LP/P - Pachyonychia congenita 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_072444 p.Leu388Pro LP/P rs56690581 Pachyonychia congenita 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_072445 p.Leu388Arg LP/P - Pachyonychia congenita 2 (PC2) [MIM:167210] KRT18 P05783 VAR_003852 p.His128Leu LP/P rs57758506 Cirrhosis (CIRRH) [MIM:215600] KRT18 P05783 VAR_023054 p.Thr103Ala LP/P rs61136606 Cirrhosis (CIRRH) [MIM:215600] KRT18 P05783 VAR_023055 p.Ser230Thr LB/B rs58472472 - KRT18 P05783 VAR_023056 p.Arg261Gln LP/P rs57354642 Cirrhosis (CIRRH) [MIM:215600] KRT18 P05783 VAR_023057 p.Gly340Arg LP/P rs57370769 Cirrhosis (CIRRH) [MIM:215600] KRT19 P08727 VAR_014629 p.Ala60Gly LB/B rs4602 - KRT2 P35908 VAR_003865 p.Gln181Pro LP/P rs57510142 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_003866 p.Glu487Asp LP/P rs137852628 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_003867 p.Glu487Lys LP/P rs137852629 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_009185 p.Asn186Tyr LP/P rs137852631 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_009186 p.Glu476Lys LP/P rs56829062 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_009187 p.Thr479Pro LP/P rs137852630 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_010514 p.Ile182Asn LP/P rs61622714 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_010515 p.Asn186Asp LP/P rs137852631 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_010516 p.Leu484Pro LP/P rs61726451 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_017829 p.Asn186Lys LP/P rs137852632 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_031082 p.Glu465Asp LP/P - Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_031083 p.Glu465Lys LP/P rs758760389 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_031084 p.Glu476Val LP/P rs60537449 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_031085 p.Ile477Asn LP/P - Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_031086 p.Glu488Lys LP/P rs61726452 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_058293 p.Ser101Gly LB/B rs2634041 - KRT2 P35908 VAR_058294 p.Gly219Asp LB/B rs638043 - KRT2 P35908 VAR_086330 p.Glu178Lys US rs57728941 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT20 P35900 VAR_024489 p.Ser129Asn LB/B rs7212483 - KRT20 P35900 VAR_036367 p.Ser4Arg US - A colorectal cancer sample KRT20 P35900 VAR_064726 p.Gly214Cys US - - KRT23 Q9C075 VAR_031608 p.Thr303Ala LB/B rs9257 - KRT23 Q9C075 VAR_049785 p.Ser393Phe LB/B rs17856805 - KRT24 Q2M2I5 VAR_038068 p.Ala115Thr LB/B rs9914185 - KRT24 Q2M2I5 VAR_038069 p.Gly250Asp LB/B rs7211480 - KRT24 Q2M2I5 VAR_038070 p.Met267Ile LB/B rs874889 - KRT24 Q2M2I5 VAR_038071 p.Arg366Cys LB/B rs16966138 - KRT24 Q2M2I5 VAR_038072 p.Cys415Tyr LB/B rs12945784 - KRT24 Q2M2I5 VAR_038073 p.Trp418Arg LB/B rs12946793 - KRT24 Q2M2I5 VAR_038074 p.Lys429Glu LB/B rs2462961 - KRT25 Q7Z3Z0 VAR_049786 p.Ser54Leu LB/B rs12951399 - KRT25 Q7Z3Z0 VAR_076303 p.Val238Leu LP/P rs879253749 Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760] KRT25 Q7Z3Z0 VAR_076304 p.Leu317Pro LP/P rs766783183 Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760] KRT25 Q7Z3Z0 VAR_079711 p.Leu376Arg LP/P - Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760] KRT26 Q7Z3Y9 VAR_056006 p.Trp118Arg LB/B rs9898164 - KRT27 Q7Z3Y8 VAR_056007 p.Gly193Ser LB/B rs17558560 - KRT27 Q7Z3Y8 VAR_056008 p.Ala284Thr LB/B rs17558532 - KRT27 Q7Z3Y8 VAR_063138 p.Ser52Thr LB/B rs2469826 - KRT27 Q7Z3Y8 VAR_063139 p.Glu144Lys LB/B rs12453124 - KRT27 Q7Z3Y8 VAR_063140 p.Ile305Thr LB/B rs981684 - KRT28 Q7Z3Y7 VAR_056009 p.Gly52Asp LB/B rs7209228 - KRT28 Q7Z3Y7 VAR_056010 p.Ala286Thr LB/B rs17558995 - KRT28 Q7Z3Y7 VAR_060236 p.Ala62Val LB/B rs4624233 - KRT3 P12035 VAR_003868 p.Glu509Lys LP/P rs57872071 Corneal dystrophy, Meesmann 2 (MECD2) [MIM:618767] KRT3 P12035 VAR_031327 p.Arg503Pro LP/P rs60410063 Corneal dystrophy, Meesmann 2 (MECD2) [MIM:618767] KRT3 P12035 VAR_056023 p.Arg375Gly LB/B rs3887954 - KRT3 P12035 VAR_061297 p.Gly44Ala LB/B rs28721426 - KRT31 Q15323 VAR_046989 p.Ala39Gly LB/B rs6503628 - KRT31 Q15323 VAR_046990 p.Ala82Val LB/B rs6503627 - KRT31 Q15323 VAR_046991 p.Ala377Val LB/B rs34293483 - KRT32 Q14532 VAR_056011 p.Gln72Arg LB/B rs3744786 - KRT32 Q14532 VAR_056012 p.Ile171Thr LB/B rs2071560 - KRT32 Q14532 VAR_056013 p.Ser222Tyr LB/B rs2071561 - KRT32 Q14532 VAR_056014 p.Thr339Met LB/B rs16966929 - KRT32 Q14532 VAR_056015 p.Thr395Met LB/B rs2071563 - KRT32 Q14532 VAR_056016 p.Arg428Cys LB/B rs9893787 - KRT32 Q14532 VAR_060237 p.Glu151Asp LB/B rs1111168 - KRT32 Q14532 VAR_060238 p.Arg280His LB/B rs72830046 - KRT32 Q14532 VAR_060239 p.Asn402Ser LB/B rs2604955 - KRT32 Q14532 VAR_060240 p.Pro427Thr LB/B rs2604953 - KRT32 Q14532 VAR_069391 p.Glu89Lys LB/B rs565998951 - KRT33A O76009 VAR_054432 p.Ala270Val LB/B rs12937519 - KRT34 O76011 VAR_056017 p.Ile238Thr LB/B rs2239710 - KRT34 O76011 VAR_056018 p.His306Arg LB/B rs2071599 - KRT35 Q92764 VAR_056019 p.Ser36Pro LB/B rs743686 - KRT35 Q92764 VAR_056020 p.Cys441Tyr LB/B rs12451652 - KRT35 Q92764 VAR_056021 p.Pro443Ala LB/B rs2071601 - KRT36 O76013 VAR_020306 p.Thr315Met LB/B rs2301354 - KRT36 O76013 VAR_024490 p.Ala119Val LB/B rs8082683 - KRT36 O76013 VAR_024491 p.Gln126Arg LB/B rs8069943 - KRT36 O76013 VAR_049792 p.Arg179Gln LB/B rs9675246 - KRT36 O76013 VAR_049793 p.Arg277Cys LB/B rs9904102 - KRT36 O76013 VAR_049794 p.Asn357Thr LB/B rs11657323 - KRT37 O76014 VAR_049795 p.Gly13Cys LB/B rs9910204 - KRT37 O76014 VAR_049796 p.Asn39Ser LB/B rs9916724 - KRT37 O76014 VAR_049797 p.Thr72Ala LB/B rs9916484 - KRT37 O76014 VAR_049798 p.Ser73Cys LB/B rs9916475 - KRT37 O76014 VAR_049799 p.Ala217Val LB/B rs16966811 - KRT37 O76014 VAR_049800 p.Ala306Asp LB/B rs2071607 - KRT37 O76014 VAR_049801 p.Ser421Phe LB/B rs35371972 - KRT37 O76014 VAR_049802 p.Thr422Met LB/B rs8071814 - KRT37 O76014 VAR_049803 p.Pro434Ser LB/B rs17737019 - KRT38 O76015 VAR_055137 p.Ser423Pro LB/B rs897416 - KRT39 Q6A163 VAR_038075 p.Thr341Met LB/B rs17843021 - KRT39 Q6A163 VAR_038076 p.Leu383Met LB/B rs17843023 - KRT39 Q6A163 VAR_038077 p.Arg456Gln LB/B rs7213256 - KRT4 P19013 VAR_003869 p.Ala72Val LB/B rs2638525 - KRT4 P19013 VAR_016038 p.Glu435Lys LP/P rs62642055 White sponge nevus 1 (WSN1) [MIM:193900] KRT40 Q6A162 VAR_038078 p.Thr37Ala LB/B rs1510069 - KRT40 Q6A162 VAR_038079 p.Phe85Ser LB/B rs17843015 - KRT40 Q6A162 VAR_038080 p.Ser102Asn LB/B rs1510068 - KRT40 Q6A162 VAR_038081 p.Thr153Met LB/B rs9908304 - KRT40 Q6A162 VAR_049787 p.Arg235His LB/B rs2010027 - KRT40 Q6A162 VAR_049788 p.Cys265Tyr LB/B rs721957 - KRT40 Q6A162 VAR_049789 p.Glu286Asp LB/B rs721958 - KRT40 Q6A162 VAR_049790 p.Met303Thr LB/B rs9908389 - KRT40 Q6A162 VAR_049791 p.Ser406Leu LB/B rs16968862 - KRT5 P13647 VAR_003871 p.Gly138Glu LB/B rs11170164 - KRT5 P13647 VAR_003872 p.Ile161Ser LP/P rs58058996 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_003873 p.Asn193Lys LP/P rs60586163 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5 P13647 VAR_003873 p.Asn193Lys LP/P rs60586163 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_003874 p.Met327Thr LP/P rs58072617 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_003875 p.Arg331Cys LP/P rs61297109 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_003876 p.Leu463Pro LP/P rs57599352 Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_003877 p.Glu475Gly LP/P rs61348633 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5 P13647 VAR_010453 p.Pro25Leu LP/P rs57499817 Epidermolysis bullosa simplex 2F, with mottled pigmentation (EBS2F) [MIM:131960] KRT5 P13647 VAR_010454 p.Pro152Leu LP/P rs60617604 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_010455 p.Lys173Asn LP/P rs58163069 Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_010456 p.Leu175Phe LP/P rs57890479 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5 P13647 VAR_010457 p.Asn176Ser LP/P rs59092197 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5 P13647 VAR_010458 p.Phe179Ser LP/P rs57781042 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5 P13647 VAR_010459 p.Ser181Pro LP/P rs60715293 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5 P13647 VAR_010460 p.Val323Ala LP/P rs59840738 Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_010461 p.Leu325Pro LP/P rs58107458 Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_010462 p.Met327Lys LP/P rs58072617 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_010463 p.Asp328His LP/P rs56790237 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_010464 p.Asp328Val LP/P rs57142010 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_010465 p.Asn329Lys LP/P rs59730172 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_010466 p.Ile467Thr LP/P rs60271599 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5 P13647 VAR_010467 p.Glu477Lys LP/P rs59190510 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5 P13647 VAR_013829 p.Val186Leu LP/P rs121912475 Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_023726 p.Lys404Glu US rs60809982 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_023727 p.Ala438Asp US rs57845028 Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_023727 p.Ala438Asp US rs57845028 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_023728 p.Glu475Lys LP/P rs57155193 Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_026536 p.Glu167Lys LP/P rs57378129 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_026537 p.Glu170Lys LP/P rs59115483 Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_026537 p.Glu170Lys LP/P rs59115483 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_026537 p.Glu170Lys LP/P rs59115483 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive (EBS2D) [MIM:619599] KRT5 P13647 VAR_026538 p.Asn177Ser LP/P rs61495052 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_026539 p.Lys199Thr LP/P rs58766676 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_026540 p.Leu311Pro LP/P rs59864957 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_026541 p.Val324Asp LP/P rs59335325 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_026542 p.Asp328Glu LP/P rs59464425 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_026543 p.Asp328Gly LP/P rs57142010 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_027722 p.Glu168Lys LP/P rs58619430 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5 P13647 VAR_027723 p.Arg169Pro LP/P rs60720877 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5 P13647 VAR_027724 p.Glu190Lys US rs58976397 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_027725 p.Arg331His LP/P rs56729325 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_027726 p.Thr469Pro LP/P rs60596287 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5 P13647 VAR_028763 p.Ser79Arg LB/B rs1065115 - KRT5 P13647 VAR_028764 p.Asp197Glu LB/B rs641615 - KRT5 P13647 VAR_028765 p.Ser232Asn LB/B rs200333163 - KRT5 P13647 VAR_028766 p.Ser387Thr LB/B rs2669875 - KRT5 P13647 VAR_028767 p.Ser528Gly LB/B rs11549950 - KRT5 P13647 VAR_028768 p.Gly543Ser LB/B rs11549949 - KRT5 P13647 VAR_031640 p.Val143Asp LP/P rs59851104 Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_031641 p.Asp158Val US rs61222761 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_031642 p.Val186Met US rs121912475 Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_031643 p.Gln191Pro US rs57751134 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5 P13647 VAR_031643 p.Gln191Pro US rs57751134 Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_031644 p.Arg352Ser LP/P rs59112594 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_031645 p.Gly517Asp LP/P rs58608695 Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_071630 p.Arg165Ser LP/P rs267607456 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5 P13647 VAR_071631 p.Val186Glu LP/P rs267607457 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_071632 p.Thr321Pro LP/P rs1938635857 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_071633 p.Ala428Thr LP/P rs267607458 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_086624 p.Val143Ala LP/P rs59851104 Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_086625 p.Val143Phe LB/B rs267607439 - KRT5 P13647 VAR_086627 p.Asn146Tyr US - Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_086628 p.Leu149Pro US rs267607449 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_086629 p.Leu150Pro US rs62635291 Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_086630 p.Thr151Pro US rs267607450 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_086631 p.Asp158Asn US rs763608512 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive (EBS2D) [MIM:619599] KRT5 P13647 VAR_086632 p.Pro159Leu US - Dowling-Degos disease 1 (DDD1) [MIM:179850] KRT5 P13647 VAR_086633 p.Glu168Asp US - Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_086634 p.Glu170Gly US rs57408864 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_086635 p.Ala180Asp LP/P rs58480900 Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_086636 p.Ala180Pro US rs267607451 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5 P13647 VAR_086637 p.Ile183Met US rs267607443 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5 P13647 VAR_086638 p.Ile183Thr LP/P rs267607661 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive (EBS2D) [MIM:619599] KRT5 P13647 VAR_086639 p.Arg187Pro US rs267607452 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_086640 p.Thr198Ser US rs267607435 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_086641 p.Lys199Met US rs58766676 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_086642 p.Leu203Met US - - KRT5 P13647 VAR_086643 p.Val323Gly LP/P - Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_086644 p.Leu325Phe LP/P - Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_086645 p.Glu418Lys LP/P rs121912476 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive (EBS2D) [MIM:619599] KRT5 P13647 VAR_086646 p.Ala428Asp LP/P - Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_086647 p.Lys443Asn US rs267607453 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_086648 p.Glu466Asp US rs62642056 Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5 P13647 VAR_086649 p.Ile467Met LP/P rs60062350 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5 P13647 VAR_086651 p.Arg471His US rs895084041 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_086652 p.Gly476Asp US rs56922686 Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5 P13647 VAR_086653 p.Glu477Gly US rs58319159 - KRT5 P13647 VAR_086654 p.Glu478Lys US rs267607438 Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT6A P02538 VAR_017075 p.Phe174Val LP/P rs28933087 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_017076 p.Leu469Arg LP/P rs57052654 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_017077 p.Glu472Lys LP/P rs60554162 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_021264 p.Asn21Ser LB/B rs17845411 - KRT6A P02538 VAR_035030 p.Gly111Asp LB/B rs681063 - KRT6A P02538 VAR_072446 p.Arg164Pro LP/P rs62635293 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072447 p.Gln166Pro LP/P rs267607460 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072448 p.Ile167Asn LP/P rs57126929 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072449 p.Leu170Phe LP/P rs57448541 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072450 p.Asn171Asp LP/P rs62635294 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072451 p.Asn171Lys LP/P rs59685571 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072452 p.Asn171Ser LP/P rs58556099 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072453 p.Asn171Tyr LP/P rs62635294 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072455 p.Phe174Cys LP/P rs61145796 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072456 p.Phe174Ser LP/P rs61145796 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072457 p.Ser176Pro LP/P rs59642296 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072458 p.Ile178Asn LP/P rs267607461 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072459 p.Ile462Asn LP/P rs57629991 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072460 p.Ile462Ser LP/P rs57629991 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072461 p.Ala463Pro LP/P rs267607462 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072462 p.Thr464Pro LP/P rs61293647 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072463 p.Tyr465His LP/P rs267607463 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072464 p.Tyr465Ser LP/P - Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072465 p.Leu468Pro LP/P rs59018888 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072466 p.Leu468Gln LP/P rs59018888 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A P02538 VAR_072467 p.Leu469Pro LP/P rs57052654 Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6B P04259 VAR_021265 p.Asn21Ser LB/B rs428894 - KRT6B P04259 VAR_021266 p.Asn227Ser LB/B rs652423 - KRT6B P04259 VAR_021267 p.Ile365Val LB/B rs437014 - KRT6B P04259 VAR_023062 p.Glu472Lys LP/P rs60627726 Pachyonychia congenita 4 (PC4) [MIM:615728] KRT6C P48668 VAR_035031 p.Arg182Gln LB/B rs11608915 - KRT6C P48668 VAR_035032 p.Ser227Asn LB/B rs17099602 - KRT6C P48668 VAR_035033 p.Val481Ile LB/B rs412533 - KRT6C P48668 VAR_071309 p.Glu472Lys LP/P rs587777292 Palmoplantar keratoderma, non-epidermolytic, focal or diffuse (PPKNEFD) [MIM:615735] KRT7 P08729 VAR_016321 p.Gly364Ala LB/B rs2608009 - KRT7 P08729 VAR_060731 p.His186Arg LB/B rs6580870 - KRT71 Q3SY84 VAR_038082 p.Val107Ile LB/B rs665522 - KRT71 Q3SY84 VAR_038083 p.Glu122Lys LB/B rs665470 - KRT71 Q3SY84 VAR_038084 p.Ile355Phe LB/B rs35988863 - KRT71 Q3SY84 VAR_038085 p.Val464Gly LB/B rs10783518 - KRT71 Q3SY84 VAR_038086 p.Arg523Gln LB/B rs2292506 - KRT71 Q3SY84 VAR_071406 p.Phe141Cys LP/P rs587777545 Hypotrichosis 13 (HYPT13) [MIM:615896] KRT72 Q14CN4 VAR_038087 p.Asn171Asp LB/B rs11170187 - KRT72 Q14CN4 VAR_038088 p.Tyr264Cys LB/B rs12833456 - KRT72 Q14CN4 VAR_038089 p.Asp366Glu LB/B rs7310138 - KRT72 Q14CN4 VAR_038090 p.Arg428Leu LB/B rs11170183 - KRT72 Q14CN4 VAR_061298 p.Gln326Glu LB/B rs34769047 - KRT73 Q86Y46 VAR_038091 p.Val61Met LB/B rs35417182 - KRT73 Q86Y46 VAR_038092 p.Pro96Leu LB/B rs659436 - KRT73 Q86Y46 VAR_038093 p.Arg212His US rs1210935768 A colorectal cancer sample KRT73 Q86Y46 VAR_038094 p.Thr248Met US rs142246988 A colorectal cancer sample KRT73 Q86Y46 VAR_038095 p.Glu365Gly LB/B rs607426 - KRT74 Q7RTS7 VAR_038096 p.Asn165Lys LB/B rs11170177 - KRT74 Q7RTS7 VAR_038097 p.Glu271Asp LB/B rs670741 - KRT74 Q7RTS7 VAR_049806 p.Leu178Gln LB/B rs11170176 - KRT74 Q7RTS7 VAR_061299 p.Arg392Gln LB/B rs57387512 - KRT74 Q7RTS7 VAR_061300 p.Glu424Lys LB/B rs57711382 - KRT74 Q7RTS7 VAR_063587 p.Asn148Lys LP/P rs267607205 Woolly hair autosomal dominant (ADWH) [MIM:194300] KRT74 Q7RTS7 VAR_065951 p.Asp482Asn LP/P rs267607477 Hypotrichosis 3 (HYPT3) [MIM:613981] KRT74 Q7RTS7 VAR_071383 p.Phe274Ser LP/P rs147962513 Ectodermal dysplasia 7, hair/nail type (ECTD7) [MIM:614929] KRT75 O95678 VAR_038098 p.Arg39Cys LB/B rs2232384 - KRT75 O95678 VAR_038099 p.Arg91Gly LB/B rs298109 - KRT75 O95678 VAR_038100 p.Pro117Ala LB/B rs2232386 - KRT75 O95678 VAR_038101 p.Ala161Thr LB/B rs2232387 - KRT75 O95678 VAR_038102 p.Arg209Gln LB/B rs2232390 - KRT75 O95678 VAR_038103 p.Glu242Gly LB/B rs2232393 - KRT75 O95678 VAR_038104 p.Glu337Lys LP/P rs2232398 Loose anagen hair syndrome (LAHS) [MIM:600628] KRT75 O95678 VAR_038105 p.Ile367Val LB/B rs2232402 - KRT75 O95678 VAR_038106 p.Met427Thr LB/B rs2232405 - KRT75 O95678 VAR_038107 p.Arg432Cys LB/B rs2232406 - KRT75 O95678 VAR_038108 p.Ser485Arg LB/B rs298104 - KRT76 Q01546 VAR_028425 p.Ala283Thr LB/B rs11170271 - KRT76 Q01546 VAR_028426 p.Ala359Thr LB/B rs6580904 - KRT76 Q01546 VAR_028427 p.Thr629Met LB/B rs2280480 - KRT76 Q01546 VAR_036368 p.Leu168Val US - A breast cancer sample KRT77 Q7Z794 VAR_056022 p.Ala10Thr LB/B rs17118224 - KRT78 Q8N1N4 VAR_038109 p.Arg25His LB/B rs11170289 - KRT78 Q8N1N4 VAR_038110 p.Leu92Pro LB/B rs2013335 - KRT78 Q8N1N4 VAR_038111 p.Gly224Ala LB/B rs2682343 - KRT78 Q8N1N4 VAR_038112 p.Ala238Thr LB/B rs10876360 - KRT79 Q5XKE5 VAR_038113 p.Leu81Ser LB/B rs2638497 - KRT79 Q5XKE5 VAR_038114 p.Phe195Leu LB/B rs17855862 - KRT79 Q5XKE5 VAR_038115 p.His266Arg LB/B rs17688672 - KRT79 Q5XKE5 VAR_038116 p.Ala393Val LB/B rs17688627 - KRT8 P05787 VAR_023058 p.Gly53Val LP/P rs61710484 Cirrhosis (CIRRH) [MIM:215600] KRT8 P05787 VAR_023059 p.Tyr54Cys LP/P - Cirrhosis (CIRRH) [MIM:215600] KRT8 P05787 VAR_023060 p.Gly62Cys LP/P rs11554495 Cirrhosis (CIRRH) [MIM:215600] KRT8 P05787 VAR_023061 p.Ile63Val LB/B rs59536457 - KRT8 P05787 VAR_049805 p.Arg401Trp LB/B rs2277330 - KRT8 P05787 VAR_069106 p.Ser417Gly LB/B - - KRT8 P05787 VAR_069107 p.Gly429Asp LB/B rs1065648 - KRT80 Q6KB66 VAR_049807 p.Val238Ile LB/B rs35725856 - KRT81 Q14533 VAR_018113 p.Gly52Arg LB/B rs2071588 - KRT81 Q14533 VAR_018114 p.Leu248Arg LB/B rs6580873 - KRT81 Q14533 VAR_018115 p.Arg316Cys LB/B rs4761786 - KRT81 Q14533 VAR_018116 p.Glu402Lys LP/P rs56821304 Monilethrix (MNLIX) [MIM:158000] KRT81 Q14533 VAR_018117 p.Glu413Lys LP/P rs57419521 Monilethrix (MNLIX) [MIM:158000] KRT81 Q14533 VAR_073048 p.Arg408Cys LP/P rs771393943 Monilethrix (MNLIX) [MIM:158000] KRT82 Q9NSB4 VAR_018118 p.Thr458Met LB/B rs2658658 - KRT82 Q9NSB4 VAR_032786 p.Glu219Gln LB/B rs1791634 - KRT82 Q9NSB4 VAR_032787 p.Glu452Asp LB/B rs1732263 - KRT83 P78385 VAR_018119 p.Arg149Cys LB/B rs2857663 - KRT83 P78385 VAR_018120 p.Ile279Met LB/B rs2852464 - KRT83 P78385 VAR_018121 p.His493Tyr LB/B rs2857671 - KRT83 P78385 VAR_023052 p.Glu407Lys LP/P rs57802288 Monilethrix (MNLIX) [MIM:158000] KRT83 P78385 VAR_073049 p.Glu418Lys LP/P rs1438087533 Monilethrix (MNLIX) [MIM:158000] KRT84 Q9NSB2 VAR_018122 p.Arg184Gln LB/B rs1613931 - KRT84 Q9NSB2 VAR_018123 p.Ile206Val LB/B rs2245203 - KRT84 Q9NSB2 VAR_018124 p.Cys446Arg LB/B rs951773 - KRT84 Q9NSB2 VAR_030734 p.Ser198Asn LB/B rs1732301 - KRT84 Q9NSB2 VAR_030735 p.Gly497Arg LB/B rs7297413 - KRT85 P78386 VAR_029657 p.Arg78His LP/P rs61630004 Ectodermal dysplasia 4, hair/nail type (ECTD4) [MIM:602032] KRT85 P78386 VAR_049804 p.Trp155Leu LB/B rs2852471 - KRT86 O43790 VAR_018125 p.Asn114Asp LP/P rs61091894 Monilethrix (MNLIX) [MIM:158000] KRT86 O43790 VAR_018126 p.Glu402Gln LP/P rs60687604 Monilethrix (MNLIX) [MIM:158000] KRT86 O43790 VAR_018127 p.Glu402Lys LP/P rs60687604 Monilethrix (MNLIX) [MIM:158000] KRT86 O43790 VAR_018128 p.Glu413Lys LP/P rs121909129 Monilethrix (MNLIX) [MIM:158000] KRT86 O43790 VAR_018129 p.Glu413Asp LP/P rs121909130 Monilethrix (MNLIX) [MIM:158000] KRT86 O43790 VAR_023053 p.Asn114His LP/P rs61091894 Monilethrix (MNLIX) [MIM:158000] KRT86 O43790 VAR_073050 p.Leu409Pro LP/P - Monilethrix (MNLIX) [MIM:158000] KRT86 O43790 VAR_073051 p.Leu410Pro LP/P - Monilethrix (MNLIX) [MIM:158000] KRT9 P35527 VAR_003822 p.Asn161Lys LP/P rs57536312 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_003823 p.Arg163Gln LP/P rs57758262 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_003824 p.Arg163Trp LP/P rs59616921 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_003825 p.Leu168Ser LP/P rs61157095 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_010499 p.Met157Thr LP/P rs59510579 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_010500 p.Met157Val LP/P rs58597584 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_010501 p.Leu160Val LP/P rs28940896 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_010502 p.Asn161Ser LP/P rs56707768 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_010503 p.Asn161Tyr LP/P rs59296273 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_010504 p.Gln172Pro LP/P rs59878153 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_035438 p.Leu160Phe LP/P rs28940896 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_035439 p.Val171Met LP/P rs57019720 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_036805 p.Met157Arg LP/P rs59510579 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_036806 p.Asn161His LP/P rs59296273 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_036807 p.Asn161Ile LP/P rs56707768 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_036808 p.Arg163Pro LP/P rs57758262 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_036810 p.Leu458Phe LP/P rs58120120 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_071977 p.Met157Lys LP/P rs59510579 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_071978 p.Cys406Arg LP/P rs77688767 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_071979 p.Tyr454His LP/P rs267607420 Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRT9 P35527 VAR_071980 p.Leu458Pro LP/P - Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200] KRTAP1-3 Q8IUG1 VAR_025349 p.Cys34Ser LB/B rs62624960 - KRTAP1-3 Q8IUG1 VAR_025352 p.Gly82Arg LB/B - - KRTAP10-1 P60331 VAR_017603 p.Pro39Leu LB/B rs233320 - KRTAP10-1 P60331 VAR_047502 p.Val101Met LB/B rs233319 - KRTAP10-1 P60331 VAR_047503 p.Arg241Gln LB/B rs233317 - KRTAP10-1 P60331 VAR_047504 p.Pro280Leu LB/B rs233316 - KRTAP10-10 P60014 VAR_017755 p.Thr72Pro LB/B rs4818947 - KRTAP10-10 P60014 VAR_053463 p.Val20Asp LB/B rs2838602 - KRTAP10-10 P60014 VAR_053464 p.Val158Met LB/B rs4818950 - KRTAP10-10 P60014 VAR_060053 p.Thr86Ser LB/B rs9306109 - KRTAP10-10 P60014 VAR_060054 p.Cys126Ser LB/B rs4818948 - KRTAP10-10 P60014 VAR_060055 p.Gln129Pro LB/B rs4818949 - KRTAP10-10 P60014 VAR_062114 p.Val116Met LB/B rs60500206 - KRTAP10-11 P60412 VAR_060056 p.Ser130Phe LB/B rs4818952 - KRTAP10-12 P60413 VAR_053465 p.Pro146Gln LB/B rs35076450 - KRTAP10-12 P60413 VAR_053466 p.Gly226Ser LB/B rs34302939 - KRTAP10-2 P60368 VAR_017690 p.Asn15Asp LB/B rs233240 - KRTAP10-2 P60368 VAR_017691 p.Pro107Thr LB/B rs478967 - KRTAP10-2 P60368 VAR_017692 p.Ala117Pro LB/B rs233239 - KRTAP10-2 P60368 VAR_017693 p.Arg241Gly LB/B rs146792277 - KRTAP10-2 P60368 VAR_053462 p.Pro177Leu LB/B rs2329834 - KRTAP10-3 P60369 VAR_047850 p.Thr3Ala LB/B rs452472 - KRTAP10-3 P60369 VAR_047851 p.Cys170Tyr LB/B rs233252 - KRTAP10-4 P60372 VAR_017694 p.Arg62Cys LB/B rs233285 - KRTAP10-4 P60372 VAR_017695 p.Ile159Val LB/B rs79048509 - KRTAP10-4 P60372 VAR_062112 p.Cys285Gly LB/B rs396912 - KRTAP10-5 P60370 VAR_017696 p.Asp20Asn LB/B rs2020221 - KRTAP10-5 P60370 VAR_017697 p.Leu235Val LB/B rs464424 - KRTAP10-5 P60370 VAR_047505 p.Cys183Phe LB/B rs380585 - KRTAP10-5 P60370 VAR_047506 p.Tyr247Cys LB/B rs7509970 - KRTAP10-5 P60370 VAR_047507 p.Pro268Arg LB/B rs464391 - KRTAP10-5 P60370 VAR_062113 p.Cys4Ser LB/B rs5017208 - KRTAP10-6 P60371 VAR_057649 p.Val159Ile LB/B rs233306 - KRTAP10-6 P60371 VAR_060049 p.Cys68Ser LB/B rs13051409 - KRTAP10-6 P60371 VAR_060050 p.Pro74Ser LB/B rs13050443 - KRTAP10-6 P60371 VAR_062533 p.Ser300Pro LB/B rs465279 - KRTAP10-7 P60409 VAR_047852 p.Val111Met LB/B rs944419 - KRTAP10-7 P60409 VAR_047853 p.Lys215Gln LB/B rs363877 - KRTAP10-7 P60409 VAR_047854 p.Thr285Ser LB/B rs446817 - KRTAP10-7 P60409 VAR_047855 p.Ala320Thr LB/B rs369720 - KRTAP10-7 P60409 VAR_060051 p.Tyr124Cys LB/B rs233308 - KRTAP10-8 P60410 VAR_028234 p.His26Arg LB/B rs411254 - KRTAP10-8 P60410 VAR_036560 p.Ser64Asn US - A colorectal cancer sample KRTAP10-8 P60410 VAR_036561 p.Ser159Phe US rs763238933 A breast cancer sample KRTAP10-9 P60411 VAR_017739 p.Tyr182Cys LB/B rs8127342 - KRTAP10-9 P60411 VAR_060052 p.Arg257Cys LB/B rs9980129 - KRTAP11-1 Q8IUC1 VAR_053467 p.Cys111Ser LB/B rs9636845 - KRTAP12-2 P59991 VAR_053468 p.Ala116Val LB/B rs12483730 - KRTAP12-2 P59991 VAR_053469 p.Ser143Pro LB/B rs2838622 - KRTAP12-2 P59991 VAR_060057 p.Ala16Thr LB/B rs13046903 - KRTAP12-2 P59991 VAR_060058 p.Ala16Val LB/B rs7275298 - KRTAP12-2 P59991 VAR_060059 p.Ser29Cys LB/B rs7275281 - KRTAP12-2 P59991 VAR_062115 p.Ser29Pro LB/B rs7276859 - KRTAP12-3 P60328 VAR_017592 p.His17Arg LB/B rs9306111 - KRTAP13-2 Q52LG2 VAR_053470 p.Arg26Cys LB/B rs16986753 - KRTAP13-2 Q52LG2 VAR_053471 p.Ser74Arg LB/B rs3804010 - KRTAP13-4 Q3LI77 VAR_047849 p.Ala59Thr LB/B rs2226548 - KRTAP13-4 Q3LI77 VAR_053472 p.Arg154His LB/B rs999597 - KRTAP15-1 Q3LI76 VAR_047019 p.Leu43Met LB/B rs2832873 - KRTAP19-2 Q3LHN2 VAR_053473 p.Tyr5His LB/B rs7280687 - KRTAP19-2 Q3LHN2 VAR_053474 p.Gly32Cys LB/B rs8131735 - KRTAP19-4 Q3LI73 VAR_053475 p.Tyr48Cys LB/B rs2298437 - KRTAP19-8 Q3LI54 VAR_053476 p.Ala61Thr LB/B rs7279142 - KRTAP20-1 Q3LI63 VAR_036562 p.Ser52Leu US - A breast cancer sample KRTAP20-2 Q3LI61 VAR_060060 p.Tyr7His LB/B rs8132705 - KRTAP20-2 Q3LI61 VAR_060061 p.Tyr13Cys LB/B rs8131539 - KRTAP20-2 Q3LI61 VAR_060062 p.Val17Gly LB/B rs8132721 - KRTAP21-1 Q3LI58 VAR_036563 p.Gly15Ser US rs757919425 A breast cancer sample KRTAP22-1 Q3MIV0 VAR_057650 p.Tyr29Cys LB/B rs724849 - KRTAP22-1 Q3MIV0 VAR_060443 p.Leu26His LB/B rs198915 - KRTAP25-1 Q3LHN0 VAR_060063 p.Ser40Pro LB/B rs8127420 - KRTAP26-1 Q6PEX3 VAR_053477 p.Ser26Tyr LB/B rs3804007 - KRTAP26-1 Q6PEX3 VAR_053478 p.Pro188Thr LB/B rs12483584 - KRTAP27-1 Q3LI81 VAR_053479 p.Ala99Val LB/B rs2244485 - KRTAP3-2 Q9BYR7 VAR_053454 p.Ser8Gly LB/B rs9897046 - KRTAP3-2 Q9BYR7 VAR_053455 p.Arg27Cys LB/B rs3829598 - KRTAP3-2 Q9BYR7 VAR_053456 p.Ile46Thr LB/B rs3813050 - KRTAP4-1 Q9BYQ7 VAR_047044 p.His66Arg LB/B rs2320231 - KRTAP4-1 Q9BYQ7 VAR_047045 p.Ser115Arg LB/B rs35382039 - KRTAP4-1 Q9BYQ7 VAR_047046 p.Ala134Thr LB/B rs398825 - KRTAP4-2 Q9BYR5 VAR_060241 p.Tyr95Cys LB/B rs389784 - KRTAP4-3 Q9BYR4 VAR_053457 p.Pro122Ser LB/B rs428371 - KRTAP4-3 Q9BYR4 VAR_053458 p.Pro152Ser LB/B rs428371 - KRTAP4-4 Q9BYR3 VAR_053459 p.Tyr25Cys LB/B rs385055 - KRTAP4-4 Q9BYR3 VAR_053460 p.Cys35Ser LB/B rs444509 - KRTAP4-4 Q9BYR3 VAR_053461 p.Arg154Ser LB/B rs366700 - KRTAP4-5 Q9BYR2 VAR_057648 p.Cys6Arg LB/B rs238829 - KRTAP4-5 Q9BYR2 VAR_064560 p.Arg22Cys LB/B rs1497383 - KRTAP4-5 Q9BYR2 VAR_064561 p.Arg67His LB/B rs238830 - KRTAP4-5 Q9BYR2 VAR_064562 p.Cys125Tyr LB/B rs1846044 - KRTAP4-7 Q9BYR0 VAR_064459 p.Ser16Gly LB/B rs11655310 - KRTAP4-7 Q9BYR0 VAR_064460 p.Asp18Val LB/B rs383835 - KRTAP4-7 Q9BYR0 VAR_064461 p.Thr68Ser LB/B rs11650484 - KRTAP4-7 Q9BYR0 VAR_064464 p.Ser113Cys LB/B - - KRTAP5-3 Q6L8H2 VAR_060115 p.Gly27Ser LB/B rs7129002 - KRTAP5-3 Q6L8H2 VAR_060116 p.Tyr28Cys LB/B rs7108370 - KRTAP5-3 Q6L8H2 VAR_060117 p.Cys73Ser LB/B rs7125831 - KRTAP5-3 Q6L8H2 VAR_060118 p.Gly76Val LB/B rs7125826 - KRTAP5-3 Q6L8H2 VAR_060119 p.Ser83Cys LB/B rs7113784 - KRTAP5-6 Q6L8G9 VAR_062155 p.Cys6Phe LB/B rs58645950 - KRTAP5-8 O75690 VAR_062156 p.Cys28Arg LB/B rs55921335 - KRTAP5-9 P26371 VAR_053731 p.Gly8Arg LB/B rs34213141 - KRTAP5-9 P26371 VAR_053732 p.Tyr40Cys LB/B rs10792769 - KRTAP6-3 Q3LI67 VAR_047018 p.Tyr58Ser LB/B rs9305426 - KRTAP6-3 Q3LI67 VAR_060046 p.Tyr51Ser LB/B rs9305426 - KRTAP9-2 Q9BYQ4 VAR_046702 p.Pro36Ser LB/B rs9903833 - KRTAP9-2 Q9BYQ4 VAR_046703 p.Cys56Ser LB/B rs9902235 - KRTAP9-4 Q9BYQ2 VAR_060242 p.Ser146Tyr LB/B rs2191379 - KRTAP9-6 A8MVA2 VAR_042997 p.Tyr86Cys LB/B rs12938692 - KRTAP9-7 A8MTY7 VAR_042995 p.Thr23Ile LB/B rs4890107 - KRTAP9-7 A8MTY7 VAR_042996 p.Ser130Asn LB/B rs12948628 - KRTAP9-9 Q9BYP9 VAR_060047 p.Pro36Ser LB/B rs9903833 - KRTAP9-9 Q9BYP9 VAR_060048 p.Cys56Ser LB/B rs9902235 - KRTCAP2 Q8N6L1 VAR_025531 p.Gly4Val LB/B rs17854920 - KSR1 Q8IVT5 VAR_040658 p.Ser227Pro LB/B - - KSR1 Q8IVT5 VAR_046048 p.Val359Ala LB/B - - KSR1 Q8IVT5 VAR_046049 p.Gln663His LB/B - - KSR2 Q6VAB6 VAR_040659 p.Arg676Ser US - A lung adenocarcinoma sample KTI12 Q96EK9 VAR_032046 p.Asp191Glu LB/B rs2783175 - KTN1 Q86UP2 VAR_016206 p.Val282Met LB/B rs2274073 - KTN1 Q86UP2 VAR_035931 p.Pro226Arg US - A breast cancer sample KTN1 Q86UP2 VAR_035932 p.Thr1316Pro US - A breast cancer sample KTN1 Q86UP2 VAR_079266 p.Leu1233Met LB/B rs372815686 - KXD1 Q9BQD3 VAR_033282 p.Pro157Ala LB/B rs7648 - KYAT3 Q6YP21 VAR_032352 p.Ser206Pro LB/B rs1059370 - KYNU Q16719 VAR_022092 p.Lys412Glu LB/B rs9013 - KYNU Q16719 VAR_049724 p.Arg188Gln LB/B rs2304705 - KYNU Q16719 VAR_054401 p.Thr198Ala LP/P rs606231307 Hydroxykynureninuria (HYXKY) [MIM:236800] L1CAM P32004 VAR_003921 p.Trp9Ser LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003922 p.Gly121Ser LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003923 p.Ile179Ser LP/P rs137852523 Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003923 p.Ile179Ser LP/P rs137852523 MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003924 p.Arg184Gln LP/P rs137852521 Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003925 p.Tyr194Cys LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003926 p.His210Gln LP/P rs28933683 MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003927 p.Ile219Thr LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003928 p.Pro240Leu LP/P rs137852526 Agenesis of the corpus callosum, X-linked, partial (ACCPX) [MIM:304100] L1CAM P32004 VAR_003928 p.Pro240Leu LP/P rs137852526 Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003929 p.Cys264Tyr LP/P rs137852518 Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003930 p.Glu309Lys LP/P rs367665974 MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003931 p.Trp335Arg LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003931 p.Trp335Arg LP/P - MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003932 p.Gly370Arg LP/P rs137852524 Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003932 p.Gly370Arg LP/P rs137852524 MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003933 p.Arg386Cys LP/P rs1557092299 Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003935 p.Gly452Arg LP/P rs137852520 Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003936 p.Arg473Cys LP/P rs886039408 Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003936 p.Arg473Cys LP/P rs886039408 MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003937 p.Asp598Asn LP/P rs137852519 MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003938 p.Arg632Pro LP/P - MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003939 p.Ala691Asp LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003939 p.Ala691Asp LP/P - MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003940 p.Gly698Arg LP/P rs886039409 Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003940 p.Gly698Arg LP/P rs886039409 MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003941 p.Val768Phe LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003942 p.Tyr784Cys LP/P rs797045674 Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003943 p.Leu935Pro LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003945 p.Pro941Leu LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003945 p.Pro941Leu LP/P - MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003946 p.Tyr1070Cys LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003947 p.Ser1194Leu LP/P rs137852522 Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_003947 p.Ser1194Leu LP/P rs137852522 MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003948 p.Ser1224Leu LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_014421 p.Val752Met LP/P rs137852525 Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_014421 p.Val752Met LP/P rs137852525 MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_027512 p.Ala415Pro LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_027513 p.Ser674Cys LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_027514 p.Asp770Asn LP/P rs148516831 MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_030403 p.His30Asn LB/B - - L1CAM P32004 VAR_030404 p.Arg184Trp LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_030405 p.Asp202Tyr LP/P - MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_030406 p.Gly268Asp LP/P - MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_030407 p.Trp335Cys LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_030408 p.Asn408Ile LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_030409 p.Val421Asp LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_030410 p.Ala426Asp LP/P - MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_030411 p.Leu482Pro LP/P rs1064794246 MASA syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_030412 p.Cys497Tyr LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_030414 p.Ser542Pro LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_030415 p.Lys655Glu LP/P rs1375788131 Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_030416 p.Ala691Thr LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_030417 p.Arg739Trp LB/B rs142424573 - L1CAM P32004 VAR_030418 p.Met741Thr LP/P rs1557091083 Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_030419 p.Arg751Pro LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_030420 p.Val768Ile LB/B rs36021462 - L1CAM P32004 VAR_030421 p.Gly1239Glu LB/B - - L1CAM P32004 VAR_059413 p.Leu958Val LB/B rs35902890 - L1CAM P32004 VAR_078351 p.Ile37Asn US - - L1CAM P32004 VAR_078352 p.Thr38Met LB/B rs201151358 - L1CAM P32004 VAR_078355 p.Leu120Val LB/B rs796052697 - L1CAM P32004 VAR_078358 p.Met172Ile US - - L1CAM P32004 VAR_078359 p.Arg184Gly US - - L1CAM P32004 VAR_078361 p.Ala254Asp US - - L1CAM P32004 VAR_078362 p.Trp276Arg LB/B rs1131691900 - L1CAM P32004 VAR_078363 p.Leu313Pro US - - L1CAM P32004 VAR_078365 p.Asn369Lys US - - L1CAM P32004 VAR_078367 p.Gly480Arg US - - L1CAM P32004 VAR_078368 p.Asp516Asn US rs782367931 - L1CAM P32004 VAR_078369 p.Asp516Tyr US - - L1CAM P32004 VAR_078370 p.Arg525His US rs782401498 - L1CAM P32004 VAR_078371 p.Thr627Met LB/B rs398123360 - L1CAM P32004 VAR_078372 p.Trp635Cys US - - L1CAM P32004 VAR_078373 p.Ile645Pro US - - L1CAM P32004 VAR_078375 p.Pro714Ser US - - L1CAM P32004 VAR_078376 p.Trp754Arg US - - L1CAM P32004 VAR_078382 p.Trp1036Leu LP/P - Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] L1CAM P32004 VAR_078385 p.Leu1080Gln US - - L1TD1 Q5T7N2 VAR_035377 p.Arg27Ser LB/B rs7552335 - L1TD1 Q5T7N2 VAR_035378 p.Val246Ala LB/B rs7542665 - L1TD1 Q5T7N2 VAR_035379 p.Val309Met LB/B rs7533274 - L1TD1 Q5T7N2 VAR_035380 p.Lys329Asn LB/B rs2457828 - L1TD1 Q5T7N2 VAR_035381 p.Pro549Thr LB/B rs11207933 - L1TD1 Q5T7N2 VAR_035382 p.Thr613Ile LB/B rs2886644 - L1TD1 Q5T7N2 VAR_051094 p.Leu860Val LB/B rs11207934 - L2HGDH Q9H9P8 VAR_025681 p.Leu18Arg LB/B rs2275591 - L2HGDH Q9H9P8 VAR_025682 p.Gly55Asp LP/P rs118204021 L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] L2HGDH Q9H9P8 VAR_025683 p.Gly57Arg LP/P rs199690954 L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] L2HGDH Q9H9P8 VAR_025684 p.Lys81Glu LP/P rs970541687 L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] L2HGDH Q9H9P8 VAR_025685 p.His98Arg LP/P rs267607206 L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] L2HGDH Q9H9P8 VAR_025686 p.His98Tyr LP/P - L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] L2HGDH Q9H9P8 VAR_025687 p.Glu176Asp LP/P - L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] L2HGDH Q9H9P8 VAR_025688 p.Tyr178Phe LB/B rs770542189 - L2HGDH Q9H9P8 VAR_025689 p.Pro302Leu LP/P rs118204020 L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] L2HGDH Q9H9P8 VAR_025690 p.His434Pro LP/P rs750044734 L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] L2HGDH Q9H9P8 VAR_057808 p.Arg33Ser LB/B rs35710558 - L3HYPDH Q96EM0 VAR_032540 p.Val42Ala LB/B rs17096291 - L3HYPDH Q96EM0 VAR_032541 p.Ala315Val LB/B rs1046701 - L3HYPDH Q96EM0 VAR_032542 p.Ile341Val LB/B rs8660 - L3HYPDH Q96EM0 VAR_062192 p.Pro125Ser LB/B rs35622288 - L3MBTL1 Q9Y468 VAR_051097 p.Ser117Thr LB/B rs17857202 - L3MBTL1 Q9Y468 VAR_051098 p.Ile547Met LB/B rs6017104 - L3MBTL2 Q969R5 VAR_015093 p.Arg300Trp LB/B rs2277846 - L3MBTL2 Q969R5 VAR_033998 p.Ile7Val LB/B rs3804097 - L3MBTL2 Q969R5 VAR_061675 p.Val337Ala LB/B rs34289721 - L3MBTL3 Q96JM7 VAR_022368 p.Thr183Asn LB/B rs9388768 - L3MBTL4 Q8NA19 VAR_060435 p.Gly489Ser LB/B rs12958879 - L3MBTL4 Q8NA19 VAR_060436 p.Gly618Asp LB/B rs3737353 - LACC1 Q8IV20 VAR_052943 p.Ile254Val LB/B rs3764147 - LACC1 Q8IV20 VAR_073274 p.Cys284Arg LP/P rs730880295 Juvenile arthritis (JUVAR) [MIM:618795] LACC1 Q8IV20 VAR_083278 p.Ala278Pro US - Juvenile arthritis (JUVAR) [MIM:618795] LACTB P83111 VAR_018299 p.Arg469Lys LB/B rs2729835 - LAD1 O00515 VAR_046539 p.Ala56Ser LB/B rs3738281 - LAD1 O00515 VAR_046540 p.Ala155Pro LB/B rs1128316 - LAD1 O00515 VAR_046541 p.Leu243Pro LB/B rs12088790 - LAD1 O00515 VAR_046542 p.Pro279Gln LB/B rs11805972 - LAD1 O00515 VAR_046543 p.Lys323Glu LB/B rs4128458 - LAD1 O00515 VAR_046544 p.Thr503Ser LB/B rs2275866 - LAG3 P18627 VAR_058295 p.Ile455Thr LB/B rs870849 - LAGE3 Q14657 VAR_080374 p.Val106Phe LP/P rs1557211306 Galloway-Mowat syndrome 2, X-linked (GAMOS2) [MIM:301006] LAGE3 Q14657 VAR_080375 p.Phe137Ser LP/P rs1557211209 Galloway-Mowat syndrome 2, X-linked (GAMOS2) [MIM:301006] LAIR1 Q6GTX8 VAR_027598 p.Asp63Glu LB/B rs3745442 - LAIR1 Q6GTX8 VAR_085777 p.Arg92Ser LB/B rs118056835 - LAIR1 Q6GTX8 VAR_085778 p.Leu98Pro LB/B rs79046875 - LAIR1 Q6GTX8 VAR_085779 p.Ser123Thr LB/B rs190462445 - LAIR2 Q6ISS4 VAR_049882 p.Gly78Ser LB/B rs36121405 - LAIR2 Q6ISS4 VAR_049883 p.His87Arg LB/B rs34423078 - LAIR2 Q6ISS4 VAR_049884 p.Phe115Tyr LB/B rs34429135 - LALBA P00709 VAR_024526 p.Ile46Val LB/B rs2232565 - LAMA1 P25391 VAR_056132 p.Leu349Ser LB/B rs9950267 - LAMA1 P25391 VAR_056133 p.Val559Ile LB/B rs16951079 - LAMA1 P25391 VAR_056134 p.Ser1577Ala LB/B rs12961939 - LAMA1 P25391 VAR_056135 p.Leu1591Val LB/B rs596315 - LAMA1 P25391 VAR_056136 p.Lys1632Glu LB/B rs11872364 - LAMA1 P25391 VAR_056137 p.Asp1682Val LB/B rs16950981 - LAMA1 P25391 VAR_056138 p.Ile2076Thr LB/B rs671871 - LAMA1 P25391 VAR_056139 p.Thr2611Ala LB/B rs543355 - LAMA1 P25391 VAR_060785 p.Asn674Thr LB/B rs566655 - LAMA1 P25391 VAR_060786 p.Met1340Val LB/B rs662471 - LAMA1 P25391 VAR_060787 p.Ala1876Thr LB/B rs11664063 - LAMA1 P25391 VAR_060788 p.Lys2002Glu LB/B rs607230 - LAMA1 P25391 VAR_061347 p.Leu2511Met LB/B rs60009920 - LAMA2 P24043 VAR_004165 p.Leu545Gln LB/B rs118083923 - LAMA2 P24043 VAR_004166 p.Arg619His LB/B rs3816665 - LAMA2 P24043 VAR_004167 p.Arg919Leu LB/B rs35277491 - LAMA2 P24043 VAR_004168 p.Tyr2586His LB/B - - LAMA2 P24043 VAR_004169 p.Glu2614Lys LB/B - - LAMA2 P24043 VAR_015743 p.Cys527Tyr LP/P rs121913574 Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855] LAMA2 P24043 VAR_015744 p.Cys862Arg LP/P rs121913573 Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855] LAMA2 P24043 VAR_015745 p.Leu2564Pro LP/P rs121913570 Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855] LAMA2 P24043 VAR_035819 p.Pro1160Ala US - A breast cancer sample LAMA2 P24043 VAR_047713 p.Arg96Ser LB/B rs34626728 - LAMA2 P24043 VAR_047714 p.Tyr240His LB/B rs3778142 - LAMA2 P24043 VAR_047715 p.His644Asp LB/B rs35879899 - LAMA2 P24043 VAR_047716 p.Val1138Met LB/B rs2306942 - LAMA2 P24043 VAR_047717 p.Thr1205Ala LB/B rs35889149 - LAMA2 P24043 VAR_047718 p.Lys1561Gln LB/B rs4143752 - LAMA2 P24043 VAR_047719 p.Ala1945Thr LB/B rs3828736 - LAMA2 P24043 VAR_047720 p.Ala2587Val LB/B rs2229848 - LAMA2 P24043 VAR_047721 p.Thr2636Ala LB/B rs2244008 - LAMA2 P24043 VAR_047722 p.Thr3029Ala LB/B rs34551216 - LAMA2 P24043 VAR_076560 p.Gly2889Arg LP/P rs886039896 Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855] LAMA2 P24043 VAR_081611 p.Trp152Gly LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138] LAMA2 P24043 VAR_081612 p.Cys199Ser LB/B rs886043693 - LAMA2 P24043 VAR_081613 p.Leu243Pro LP/P rs1562273395 Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138] LAMA2 P24043 VAR_081615 p.Gly284Arg LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138] LAMA2 P24043 VAR_081617 p.Cys518Tyr US - Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855] LAMA2 P24043 VAR_081620 p.Thr821Met US rs117422805 Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855] LAMA2 P24043 VAR_081624 p.Trp1311Gly LP/P - Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855] LAMA2 P24043 VAR_081627 p.Ala1496Val LP/P rs147077184 Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138] LAMA2 P24043 VAR_081631 p.Arg2477Ser LP/P rs34367843 Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138] LAMA2 P24043 VAR_081634 p.Gly2633Ala LP/P - Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855] LAMA3 Q16787 VAR_047374 p.Thr2702Ala LB/B rs9952370 - LAMA3 Q16787 VAR_047375 p.Asn2815Lys LB/B rs1154232 - LAMA3 Q16787 VAR_050078 p.Thr796Asn LB/B rs17187262 - LAMA3 Q16787 VAR_050079 p.Val1206Ala LB/B rs12457323 - LAMA3 Q16787 VAR_050080 p.Pro1208Thr LB/B rs17202961 - LAMA3 Q16787 VAR_059444 p.Phe1774Leu LB/B rs958631 - LAMA3 Q16787 VAR_059445 p.Gly2834Ser LB/B rs1154233 - LAMA4 Q16363 VAR_025550 p.Tyr498His LB/B rs1050348 - LAMA4 Q16363 VAR_025551 p.Gly1117Ser LB/B rs2032567 - LAMA4 Q16363 VAR_025552 p.Pro1119Arg LB/B rs1050349 - LAMA4 Q16363 VAR_056140 p.Gly94Ser LB/B rs35349917 - LAMA4 Q16363 VAR_056141 p.Arg154Trp LB/B rs11757455 - LAMA4 Q16363 VAR_056142 p.Leu492His LB/B rs3752579 - LAMA4 Q16363 VAR_056143 p.Asn1549Ser LB/B rs12110554 - LAMA4 Q16363 VAR_056144 p.Val1815Ile LB/B rs3734292 - LAMA4 Q16363 VAR_061348 p.Ala283Glu LB/B rs9400522 - LAMA4 Q16363 VAR_069708 p.Pro950Leu LP/P - Cardiomyopathy, dilated, 1JJ (CMD1JJ) [MIM:615235] LAMA5 O15230 VAR_030847 p.Val889Met LB/B rs6062223 - LAMA5 O15230 VAR_030848 p.Met1258Thr LB/B rs3810548 - LAMA5 O15230 VAR_030849 p.Lys1367Glu LB/B rs2427286 - LAMA5 O15230 VAR_030850 p.Gly1434Ala LB/B rs17750870 - LAMA5 O15230 VAR_030851 p.Arg1667Trp LB/B rs13039398 - LAMA5 O15230 VAR_030852 p.His1717Tyr LB/B rs875379 - LAMA5 O15230 VAR_030853 p.Phe1807Ser LB/B rs2427284 - LAMA5 O15230 VAR_030854 p.Val1900Met LB/B rs2427283 - LAMA5 O15230 VAR_030855 p.Ala1908Thr LB/B rs11698080 - LAMA5 O15230 VAR_030856 p.His2036Arg LB/B rs6143021 - LAMA5 O15230 VAR_030857 p.Arg2053His LB/B rs3737137 - LAMA5 O15230 VAR_030858 p.Asp2062Asn LB/B rs2274934 - LAMA5 O15230 VAR_030859 p.Arg2226His LB/B rs2297587 - LAMA5 O15230 VAR_030860 p.Arg3079Trp LB/B rs944895 - LAMA5 O15230 VAR_047887 p.Thr401Ala LB/B rs4925229 - LAMA5 O15230 VAR_047888 p.Thr1671Met LB/B rs944893 - LAMA5 O15230 VAR_087702 p.Arg286Leu LP/P - Nephrotic syndrome 26 (NPHS26) [MIM:620049] LAMA5 O15230 VAR_087703 p.Ala498Val US rs139957521 Nephrotic syndrome 26 (NPHS26) [MIM:620049] LAMA5 O15230 VAR_087704 p.Arg747Trp US rs370940497 Nephrotic syndrome 26 (NPHS26) [MIM:620049] LAMA5 O15230 VAR_087705 p.Glu1001Gly US rs1601356283 Nephrotic syndrome 26 (NPHS26) [MIM:620049] LAMA5 O15230 VAR_087706 p.Ala1405Thr US rs779995373 Bent bone dysplasia syndrome 2 (BBDS2) [MIM:620076] LAMA5 O15230 VAR_087707 p.Arg2053Cys US - Bent bone dysplasia syndrome 2 (BBDS2) [MIM:620076] LAMA5 O15230 VAR_087709 p.Arg2800His US rs142801594 Nephrotic syndrome 26 (NPHS26) [MIM:620049] LAMA5 O15230 VAR_087710 p.Gly2948Ser US rs529211517 Nephrotic syndrome 26 (NPHS26) [MIM:620049] LAMB1 P07942 VAR_014698 p.Val670Ala LB/B rs20555 - LAMB1 P07942 VAR_014699 p.Gln1022Arg LB/B rs20556 - LAMB1 P07942 VAR_032774 p.Gly860Ser LB/B rs35710474 - LAMB1 P07942 VAR_061349 p.Pro379Ser LB/B rs28750165 - LAMB2 P55268 VAR_031968 p.Arg246Gln LP/P rs121912491 Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199] LAMB2 P55268 VAR_031969 p.Arg246Trp LP/P rs121912488 Pierson syndrome (PIERS) [MIM:609049] LAMB2 P55268 VAR_031970 p.Cys321Arg LP/P rs121912492 Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199] LAMB2 P55268 VAR_031971 p.Glu987Lys LB/B rs34759087 - LAMB2 P55268 VAR_031972 p.Asn1380Lys LP/P rs267607207 Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199] LAMB2 P55268 VAR_031973 p.Leu1393Phe LP/P rs267607208 Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199] LAMB2 P55268 VAR_066492 p.His147Arg LP/P rs387906644 Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199] LAMB2 P55268 VAR_087602 p.Arg644His US rs200738080 Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199] LAMB2 P55268 VAR_087603 p.Gly700Glu LB/B rs142860588 - LAMB2 P55268 VAR_087604 p.Arg1148His LB/B rs138774635 - LAMB2 P55268 VAR_087605 p.Leu1258Val US rs771785818 Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199] LAMB2 P55268 VAR_087606 p.Ala1765Thr LB/B rs74951356 - LAMB3 Q13751 VAR_004170 p.Glu210Lys LP/P rs121912482 Epidermolysis bullosa, junctional 1A, intermediate (JEB1A) [MIM:226650] LAMB3 Q13751 VAR_004171 p.Pro679Leu LP/P rs201223111 Epidermolysis bullosa, junctional 1B, severe (JEB1B) [MIM:226700] LAMB3 Q13751 VAR_034060 p.Ser438Thr LB/B rs2229468 - LAMB3 Q13751 VAR_034061 p.Asn690Ser LB/B rs2229466 - LAMB3 Q13751 VAR_034062 p.Met852Leu LB/B rs12748250 - LAMB3 Q13751 VAR_034063 p.Arg988Trp LB/B rs2229467 - LAMB3 Q13751 VAR_035820 p.Arg450Cys US rs200895463 A colorectal cancer sample LAMB3 Q13751 VAR_037309 p.Asn181Asp LB/B rs2235542 - LAMB3 Q13751 VAR_037310 p.Gly199Ala LP/P rs121912486 Epidermolysis bullosa, junctional 1A, intermediate (JEB1A) [MIM:226650] LAMB3 Q13751 VAR_037311 p.Lys207Gln LP/P rs121912487 Epidermolysis bullosa, junctional 1A, intermediate (JEB1A) [MIM:226650] LAMB3 Q13751 VAR_037312 p.Arg292Leu LB/B rs12091253 - LAMB3 Q13751 VAR_037313 p.Val527Met LB/B rs2076349 - LAMB3 Q13751 VAR_037314 p.Ala926Asp LB/B rs2076222 - LAMB4 A4D0S4 VAR_037588 p.Met44Thr LB/B rs35644375 - LAMB4 A4D0S4 VAR_037589 p.His234Tyr LB/B rs2074749 - LAMB4 A4D0S4 VAR_037590 p.Val591Phe LB/B rs9690688 - LAMB4 A4D0S4 VAR_037591 p.Asn866Ser LB/B rs2240445 - LAMB4 A4D0S4 VAR_037592 p.Thr1350Asn LB/B rs10260756 - LAMB4 A4D0S4 VAR_037593 p.His1510Tyr LB/B rs1627354 - LAMB4 A4D0S4 VAR_037594 p.Arg1612Ser LB/B rs2528693 - LAMB4 A4D0S4 VAR_074174 p.Gly1028Cys LB/B rs1299564647 - LAMC1 P11047 VAR_014700 p.Ile458Val LB/B rs20563 - LAMC1 P11047 VAR_014701 p.Leu888Pro LB/B rs20558 - LAMC1 P11047 VAR_014702 p.Arg1121Gln LB/B rs20559 - LAMC1 P11047 VAR_035821 p.Arg1116His US rs548688323 A colorectal cancer sample LAMC1 P11047 VAR_054488 p.Glu731Lys LB/B rs2230157 - LAMC1 P11047 VAR_080757 p.His363Leu US - - LAMC2 Q13753 VAR_020304 p.Ser733Thr LB/B rs2296303 - LAMC2 Q13753 VAR_022017 p.Asp247Glu LB/B rs2296306 - LAMC2 Q13753 VAR_050081 p.Ala111Pro LB/B rs12065473 - LAMC2 Q13753 VAR_050082 p.Arg115Gln LB/B rs17481405 - LAMC2 Q13753 VAR_050083 p.Thr124Met LB/B rs11586699 - LAMC2 Q13753 VAR_050084 p.Asp136Val LB/B rs12037099 - LAMC2 Q13753 VAR_050085 p.Ser608Ile LB/B rs4373715 - LAMC3 Q9Y6N6 VAR_056145 p.Pro522Ser LB/B rs869457 - LAMC3 Q9Y6N6 VAR_056146 p.Glu544Gly LB/B rs10901333 - LAMC3 Q9Y6N6 VAR_056147 p.Arg770Gly LB/B rs3739510 - LAMC3 Q9Y6N6 VAR_056148 p.Ser1082Gly LB/B rs2275140 - LAMC3 Q9Y6N6 VAR_056149 p.Arg1264Trp LB/B rs11244275 - LAMC3 Q9Y6N6 VAR_066404 p.Gly350Arg LP/P rs571785750 Cortical malformations occipital (OCCM) [MIM:614115] LAMP1 P11279 VAR_046450 p.Ile309Thr LB/B rs9577230 - LAMP2 P13473 VAR_011992 p.Pro256His LB/B rs1043878 - LAMP2 P13473 VAR_026230 p.Trp321Arg LP/P rs104894859 Danon disease (DAND) [MIM:300257] LAMP3 Q9UQV4 VAR_025343 p.Ile318Val LB/B rs482912 - LAMP3 Q9UQV4 VAR_030827 p.Glu32Gly LB/B rs17853113 - LAMP5 Q9UJQ1 VAR_014401 p.Asp12Gly LB/B rs2232259 - LAMP5 Q9UJQ1 VAR_014402 p.Ile81Val LB/B rs2232263 - LAMP5 Q9UJQ1 VAR_014403 p.Gln103Glu LB/B rs2232264 - LAMP5 Q9UJQ1 VAR_014404 p.Ser158Gly LB/B rs2232266 - LAMTOR1 Q6IAA8 VAR_030250 p.Ser73Leu LB/B rs1053443 - LANCL2 Q9NS86 VAR_053480 p.Ile74Val LB/B rs6961412 - LANCL2 Q9NS86 VAR_060064 p.Thr56Pro LB/B rs2272263 - LAPTM5 Q13571 VAR_053653 p.Arg226Lys LB/B rs35351292 - LARGE1 O95461 VAR_013685 p.Arg68Gly LB/B rs470035 - LARGE1 O95461 VAR_013686 p.Arg68Pro LB/B rs135311 - LARGE1 O95461 VAR_013687 p.Arg665His LB/B rs1046166 - LARGE1 O95461 VAR_019811 p.Glu509Lys LP/P rs121908675 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6 (MDDGB6) [MIM:608840] LARGE1 O95461 VAR_065064 p.Ser331Phe LP/P rs267607210 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154] LARGE1 O95461 VAR_065065 p.Trp495Arg LP/P rs267607209 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154] LARGE1 O95461 VAR_075304 p.Cys443Tyr LP/P - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154] LARGE2 Q8N3Y3 VAR_025518 p.Arg677Cys LB/B rs2271851 - LARGE2 Q8N3Y3 VAR_031854 p.Glu37Lys LB/B rs17853729 - LARGE2 Q8N3Y3 VAR_031855 p.Arg546Trp LB/B rs11038713 - LARP1B Q659C4 VAR_034813 p.Pro462Arg LB/B rs12508837 - LARP1B Q659C4 VAR_034814 p.Arg660His LB/B rs12645577 - LARP4 Q71RC2 VAR_055936 p.Phe351Leu LB/B rs17124706 - LARP4 Q71RC2 VAR_055937 p.Asn502Thr LB/B rs17124715 - LARS1 Q9P2J5 VAR_052637 p.Arg1088Lys LB/B rs10988 - LARS1 Q9P2J5 VAR_070437 p.Lys82Arg LB/B rs112954500 - LARS1 Q9P2J5 VAR_070438 p.Tyr373Cys LP/P rs201861847 Infantile liver failure syndrome 1 (ILFS1) [MIM:615438] LARS2 Q15031 VAR_052638 p.Lys727Asn LB/B rs36054230 - LARS2 Q15031 VAR_052639 p.Glu831Asp LB/B rs9827689 - LARS2 Q15031 VAR_070094 p.Thr522Asn LP/P rs199589947 Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) [MIM:617021] LARS2 Q15031 VAR_070094 p.Thr522Asn LP/P rs199589947 Perrault syndrome 4 (PRLTS4) [MIM:615300] LARS2 Q15031 VAR_070095 p.Thr629Met US rs398123036 Perrault syndrome 4 (PRLTS4) [MIM:615300] LARS2 Q15031 VAR_076997 p.Ala430Val LP/P rs879255606 Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) [MIM:617021] LAS1L Q9Y4W2 VAR_036587 p.Arg170Cys US rs1371889606 A colorectal cancer sample LAS1L Q9Y4W2 VAR_077824 p.Ala269Gly US - Intellectual developmental disorder, X-linked, syndromic, Wilson-Turner type (WTS) [MIM:309585] LAS1L Q9Y4W2 VAR_077825 p.Arg415Trp US rs1057518699 Intellectual developmental disorder, X-linked, syndromic, Wilson-Turner type (WTS) [MIM:309585] LAS2 Q8IYD9 VAR_050903 p.Arg147Pro LB/B rs1657907 - LAS2 Q8IYD9 VAR_050904 p.Cys196Phe LB/B rs16958096 - LATS1 O95835 VAR_040660 p.Arg96Trp LB/B rs55945045 - LATS1 O95835 VAR_040661 p.Ser204Gly LB/B rs34793526 - LATS1 O95835 VAR_040662 p.Pro237Gln LB/B rs56149740 - LATS1 O95835 VAR_040663 p.Arg370Trp LB/B rs56348064 - LATS1 O95835 VAR_040664 p.Pro531Ser LB/B rs55874734 - LATS1 O95835 VAR_040665 p.Phe641Leu LB/B rs35163691 - LATS1 O95835 VAR_040666 p.Met669Ile US rs1390558952 A lung adenocarcinoma sample LATS1 O95835 VAR_040667 p.Arg806Pro US - A lung large cell carcinoma sample LATS1 O95835 VAR_040668 p.Gly1000Ser LB/B rs56412005 - LATS2 Q9NRM7 VAR_019789 p.Ala324Val LB/B rs558614 - LATS2 Q9NRM7 VAR_040669 p.Gly40Glu US - A lung adenocarcinoma sample LATS2 Q9NRM7 VAR_040670 p.Ser91Leu LB/B rs55842804 - LATS2 Q9NRM7 VAR_040671 p.Ile799Val LB/B rs35368391 - LATS2 Q9NRM7 VAR_040672 p.Ala1014Gly LB/B rs45523141 - LATS2 Q9NRM7 VAR_040673 p.Leu1025Pro LB/B rs56116059 - LATS2 Q9NRM7 VAR_047077 p.Gly363Ser LB/B rs2770928 - LAYN Q6UX15 VAR_029496 p.Glu66Lys LB/B rs11827718 - LBP P18428 VAR_028243 p.Pro9Leu LB/B rs2232580 - LBP P18428 VAR_028244 p.Leu125Ile LB/B rs2232585 - LBP P18428 VAR_028245 p.Val166Met LB/B rs5744204 - LBP P18428 VAR_028246 p.Met242Ile LB/B rs2232601 - LBP P18428 VAR_028247 p.Asp283Gly LB/B rs2232607 - LBP P18428 VAR_028248 p.His294Arg LB/B rs2232608 - LBP P18428 VAR_028249 p.Pro333Leu LB/B rs2232613 - LBP P18428 VAR_028250 p.Leu339Phe LB/B rs5744212 - LBP P18428 VAR_028251 p.Phe436Leu LB/B rs2232618 - LBP P18428 VAR_028252 p.Ala445Thr LB/B rs2232619 - LBP P18428 VAR_049737 p.Arg111Gln LB/B rs2232583 - LBP P18428 VAR_049738 p.Glu147Lys LB/B rs36015492 - LBP P18428 VAR_049739 p.Ile364Thr LB/B rs2232615 - LBP P18428 VAR_061293 p.Ser157Cys LB/B rs2232586 - LBR Q14739 VAR_017841 p.Pro119Leu LP/P rs137852605 Pelger-Huet anomaly (PHA) [MIM:169400] LBR Q14739 VAR_017842 p.Pro569Arg LP/P rs137852606 Pelger-Huet anomaly (PHA) [MIM:169400] LBR Q14739 VAR_020209 p.Thr311Ala LB/B rs2275601 - LBR Q14739 VAR_024318 p.Ser154Asn LB/B rs2230419 - LBR Q14739 VAR_052155 p.Arg169Cys LB/B rs2230420 - LBR Q14739 VAR_063811 p.Arg372Cys LP/P rs200180113 Reynolds syndrome (REYNS) [MIM:613471] LBR Q14739 VAR_081006 p.Asn547Ser US rs374343844 Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA) [MIM:618019] LBR Q14739 VAR_081007 p.Arg586His US rs573510559 Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA) [MIM:618019] LBR Q14739 VAR_081220 p.Asn547Asp LP/P rs587777171 Greenberg dysplasia (GRBGD) [MIM:215140] LBR Q14739 VAR_081221 p.Arg583Gln LP/P rs587777172 Greenberg dysplasia (GRBGD) [MIM:215140] LBX2 Q6XYB7 VAR_037227 p.Ser158Phe LB/B rs17009998 - LBX2 Q6XYB7 VAR_083939 p.Lys139Glu US rs753669213 - LBX2 Q6XYB7 VAR_083940 p.Ala171Pro US rs201832456 - LCA5 Q86VQ0 VAR_023094 p.Leu24Ser LB/B rs2655655 - LCA5 Q86VQ0 VAR_038989 p.Asp26Ala LB/B rs34068461 - LCA5 Q86VQ0 VAR_038990 p.Arg66Gln LB/B rs35338066 - LCA5 Q86VQ0 VAR_038991 p.Ala546Pro LB/B rs35415141 - LCA5 Q86VQ0 VAR_038992 p.Gly656Asp LB/B rs1875845 - LCA5 Q86VQ0 VAR_081583 p.Arg218Gly US - Leber congenital amaurosis 5 (LCA5) [MIM:604537] LCA5L O95447 VAR_021947 p.Gly17Ser LB/B rs2837029 - LCA5L O95447 VAR_042739 p.Gly547Ser LB/B rs11558767 - LCAT P04180 VAR_004252 p.Pro34Leu LP/P rs121908051 Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_004253 p.Gly54Ser LP/P rs1461145750 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004254 p.Gly57Arg LP/P - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004255 p.Ala117Thr LP/P rs28940886 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004256 p.Thr147Ile LP/P rs121908050 Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_004257 p.Arg159Trp LP/P rs28940887 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004258 p.Arg164His LP/P rs769485083 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004259 p.Arg171Trp LP/P - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004260 p.Tyr180Asn LP/P rs749740660 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004261 p.Arg182Cys LB/B rs387906300 - LCAT P04180 VAR_004262 p.Leu233Pro LP/P rs28942087 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004263 p.Asn252Lys LP/P rs121908049 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004264 p.Met276Lys LP/P rs121908054 Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_004265 p.Met317Ile LP/P rs121908048 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004266 p.Thr345Met LP/P rs28940888 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004267 p.Thr371Met LP/P rs121908053 Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_017030 p.Ser232Thr LB/B rs4986970 - LCAT P04180 VAR_039020 p.Asn29Ile LP/P - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039021 p.Pro34Gln LP/P - Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_039022 p.Thr37Met LP/P rs971887742 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039023 p.Val70Glu LP/P rs748427834 Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_039024 p.Gly95Arg US - - LCAT P04180 VAR_039025 p.Ser115Pro LB/B rs1412883954 - LCAT P04180 VAR_039026 p.Arg123Cys LP/P rs140068549 Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_039027 p.Arg159Gln LP/P rs768017317 Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_039028 p.Arg164Cys LP/P rs1380009545 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039029 p.Ala165Thr LB/B rs1369994093 - LCAT P04180 VAR_039030 p.Ser205Asn LP/P - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039031 p.Lys242Asn LP/P - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039032 p.Arg268His LP/P rs780824776 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039033 p.Thr298Ala LP/P - Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_039033 p.Thr298Ala LP/P - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039034 p.Thr298Ile LP/P - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039035 p.Pro331Ser LP/P - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039036 p.Val333Met LP/P rs776035233 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039037 p.Leu396Arg US - - LCAT P04180 VAR_039038 p.Phe406Val LP/P - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_066862 p.Trp99Ser LP/P - Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_066864 p.Val246Phe US - - LCAT P04180 VAR_066865 p.Arg268Cys LB/B rs745320775 - LCAT P04180 VAR_066866 p.Arg322Cys LB/B rs1407191796 - LCAT P04180 VAR_066867 p.Leu338Phe LP/P rs1330635214 Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_066868 p.Arg347Cys LP/P rs202017590 Fish-eye disease (FED) [MIM:136120] LCE1C Q5T751 VAR_053481 p.Cys16Tyr LB/B rs2006940 - LCE1D Q5T752 VAR_060065 p.Asn59Ser LB/B rs7527180 - LCE1D Q5T752 VAR_062116 p.Arg78His LB/B rs41268490 - LCE1E Q5T753 VAR_060066 p.Ser59Gly LB/B rs11205106 - LCE1E Q5T753 VAR_062117 p.Gly111Ser LB/B rs56313719 - LCE2A Q5TA79 VAR_062118 p.Cys20Tyr LB/B rs58733562 - LCE2B O14633 VAR_053482 p.Ile51Ser LB/B rs3737859 - LCE2B O14633 VAR_062119 p.Arg83Gln LB/B rs28391399 - LCE2D Q5TA82 VAR_053483 p.Cys92Tyr LB/B rs11205064 - LCE3A Q5TA76 VAR_053484 p.Arg59Cys LB/B rs16834245 - LCE3D Q9BYE3 VAR_053485 p.Gly43Val LB/B rs512208 - LCE3D Q9BYE3 VAR_062120 p.Gly81Val LB/B rs57201979 - LCE4A Q5TA78 VAR_053486 p.Gly95Val LB/B rs10888510 - LCE5A Q5TCM9 VAR_053487 p.Cys40Tyr LB/B rs2105117 - LCK P06239 VAR_013463 p.Val28Leu US - - LCK P06239 VAR_013465 p.Ala353Val US - - LCK P06239 VAR_013466 p.Pro447Leu US - - LCK P06239 VAR_051697 p.Gly201Ser LB/B rs11567841 - LCK P06239 VAR_071291 p.Leu341Pro LP/P rs587777335 Immunodeficiency 22 (IMD22) [MIM:615758] LCLAT1 Q6UWP7 VAR_032830 p.Ile290Val LB/B rs12471868 - LCMT2 O60294 VAR_022081 p.Arg141Ser LB/B rs3742970 - LCMT2 O60294 VAR_023378 p.Val67Leu LB/B rs45552436 - LCMT2 O60294 VAR_023379 p.Cys149Tyr LB/B rs45593931 - LCMT2 O60294 VAR_023380 p.Thr518Ala LB/B rs45530831 - LCN15 Q6UWW0 VAR_059453 p.Ser152Ala LB/B rs2297723 - LCN15 Q6UWW0 VAR_059454 p.Lys164Glu LB/B rs2297722 - LCN9 Q8WX39 VAR_056167 p.His65Tyr LB/B rs12352552 - LCN9 Q8WX39 VAR_056168 p.Cys90Phe LB/B rs7875283 - LCNL1 Q6ZST4 VAR_046189 p.Ala68Thr LB/B rs17578859 - LCP1 P13796 VAR_001371 p.Asp24Glu LB/B - - LCP1 P13796 VAR_024398 p.Lys533Glu LB/B rs4941543 - LCP1 P13796 VAR_030826 p.Pro544Ala LB/B rs17067725 - LCP1 P13796 VAR_079850 p.Asn608Ser US - - LCP2 Q13094 VAR_070803 p.Ser410Cys LB/B rs34192428 - LCT P09848 VAR_026705 p.Val219Ile LB/B rs3754689 - LCT P09848 VAR_026706 p.Gln268His LP/P rs121908937 Congenital lactase deficiency (COLACD) [MIM:223000] LCT P09848 VAR_026707 p.Ile362Val LB/B rs4954449 - LCT P09848 VAR_026708 p.Gly1363Ser LP/P rs386833833 Congenital lactase deficiency (COLACD) [MIM:223000] LCT P09848 VAR_026709 p.Asn1639Ser LB/B rs2322659 - LCT P09848 VAR_055882 p.Ser190Leu LB/B rs35156533 - LCT P09848 VAR_055883 p.Val1593Met LB/B rs35891837 - LCTL Q6UWM7 VAR_023586 p.Ala240Thr LB/B rs1030986 - LCTL Q6UWM7 VAR_049297 p.Thr212Met LB/B rs7179073 - LDAF1 Q96B96 VAR_030923 p.Gly107Ser LB/B rs1046480 - LDAF1 Q96B96 VAR_030924 p.Glu154Asp LB/B rs1063087 - LDAF1 Q96B96 VAR_057765 p.Phe97Leu LB/B rs35345508 - LDB1 Q86U70 VAR_036366 p.Arg299Gln US rs990101456 A colorectal cancer sample LDB3 O75112 VAR_024008 p.Val55Ile LB/B rs3740343 - LDB3 O75112 VAR_024009 p.Ser189Leu LP/P rs45487699 Cardiomyopathy, dilated, 1C, with or without left ventricular non-compaction (CMD1C) [MIM:601493] LDB3 O75112 VAR_024010 p.Thr206Ile LP/P rs121908337 Cardiomyopathy, dilated, 1C, with or without left ventricular non-compaction (CMD1C) [MIM:601493] LDB3 O75112 VAR_024011 p.Ile345Met LP/P rs121908336 Cardiomyopathy, dilated, 1C, with or without left ventricular non-compaction (CMD1C) [MIM:601493] LDB3 O75112 VAR_024012 p.Val635Ile LB/B rs45618633 - LDB3 O75112 VAR_024013 p.Asp673Asn LP/P rs45514002 Cardiomyopathy, dilated, 1C, with or without left ventricular non-compaction (CMD1C) [MIM:601493] LDB3 O75112 VAR_050146 p.Pro101Leu LB/B rs45592139 - LDHA P00338 VAR_004180 p.Lys222Glu LB/B rs748436361 - LDHA P00338 VAR_004181 p.Arg315Cys LB/B rs200093825 - LDHAL6B Q9BYZ2 VAR_027936 p.Val14Met LB/B rs3809530 - LDHAL6B Q9BYZ2 VAR_027937 p.Pro30Leu LB/B rs3809529 - LDHAL6B Q9BYZ2 VAR_027938 p.Ile326Thr LB/B rs3825937 - LDHAL6B Q9BYZ2 VAR_049757 p.Pro259Ser LB/B rs35212259 - LDHB P07195 VAR_004173 p.Lys7Glu LP/P rs118203897 Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128] LDHB P07195 VAR_004174 p.Ala35Glu LP/P - Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128] LDHB P07195 VAR_004175 p.Ser129Arg LP/P rs118203896 Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128] LDHB P07195 VAR_004176 p.Phe171Val LP/P - Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128] LDHB P07195 VAR_004177 p.Arg172His LP/P rs118203895 Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128] LDHB P07195 VAR_004178 p.Met175Leu LP/P - Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128] LDHB P07195 VAR_004179 p.Asp322Val LP/P - Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128] LDHB P07195 VAR_011634 p.Gly69Glu LP/P - Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128] LDHB P07195 VAR_011635 p.Arg107Trp LP/P rs777954556 Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128] LDHB P07195 VAR_011636 p.Arg172Pro LP/P - Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128] LDHB P07195 VAR_011638 p.Trp325Arg LP/P rs267607212 Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128] LDHB P07195 VAR_049758 p.Met175Val LB/B rs7966339 - LDHC P07864 VAR_034068 p.Glu285Gln LB/B rs2230150 - LDHD Q86WU2 VAR_029561 p.Arg233Lys LB/B rs11644820 - LDHD Q86WU2 VAR_082214 p.Trp374Cys LP/P rs1567502487 D-lactic aciduria with gout (DLACD) [MIM:245450] LDHD Q86WU2 VAR_082215 p.Thr463Met LP/P rs764877688 D-lactic aciduria with gout (DLACD) [MIM:245450] LDLR P01130 VAR_005304 p.Cys27Trp LP/P rs2228671 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005306 p.Cys52Tyr LP/P rs879254418 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005307 p.Arg78Cys US rs370860696 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005308 p.Trp87Gly LP/P rs121908025 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005309 p.Cys89Tyr LP/P rs875989894 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005310 p.Asp90Gly LP/P rs771019366 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005311 p.Asp90Asn LP/P rs749038326 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005312 p.Asp90Tyr LP/P rs749038326 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005313 p.Gln92Glu LP/P rs774467219 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005314 p.Cys95Gly LP/P rs879254456 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005315 p.Glu101Lys LP/P rs144172724 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005316 p.Cys109Arg US rs140807148 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005317 p.Cys116Arg LP/P rs879254482 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005318 p.Glu140Lys LP/P rs748944640 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005319 p.Cys155Gly LP/P rs879254535 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005320 p.Cys160Tyr US rs879254541 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005321 p.Asp168His LP/P rs200727689 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005322 p.Asp168Asn LP/P rs200727689 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005323 p.Asp168Tyr LP/P rs200727689 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005324 p.Cys173Arg LP/P rs879254558 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005325 p.Cys173Trp LP/P rs769318035 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005326 p.Asp175Asn LP/P rs121908033 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005327 p.Ser177Leu LP/P rs121908026 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005328 p.Cys197Phe LP/P rs376459828 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005329 p.Cys197Tyr LP/P rs376459828 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005330 p.Cys197Arg LP/P rs730882085 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005332 p.Asp221Gly LP/P rs373822756 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005333 p.Asp221Tyr LP/P rs875989906 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005334 p.Asp224Asn LP/P rs387906303 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005335 p.Asp224Gly LP/P rs879254630 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005336 p.Asp224Val LP/P rs879254630 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005337 p.Ser226Pro LP/P rs879254635 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005338 p.Asp227Glu LP/P rs121908028 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005340 p.Glu228Gln LP/P rs121908029 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005341 p.Glu228Lys LP/P rs121908029 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005342 p.Cys231Gly LP/P rs746091400 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005343 p.Glu240Lys LP/P rs768563000 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005344 p.Cys248Phe LP/P rs879254663 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005345 p.Cys248Tyr LP/P rs879254663 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005346 p.Asp256Gly LP/P rs879254670 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005347 p.Asp266Glu LP/P rs139043155 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005348 p.Cys270Tyr LP/P rs879254683 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005349 p.Cys276Tyr LP/P rs730882089 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005350 p.Glu277Lys US rs148698650 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005351 p.Ser286Arg LP/P rs140241383 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005352 p.Asp301Ala LP/P rs879254714 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005353 p.Cys302Tyr LP/P rs879254715 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005354 p.Cys302Trp LP/P rs879254716 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005355 p.Asp304Asn LP/P rs121908030 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005356 p.Asp304Glu LP/P rs875989909 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005357 p.Ser306Leu US rs11547917 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005358 p.Cys313Tyr LP/P rs875989911 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005359 p.Cys318Tyr LP/P rs879254739 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005360 p.Cys318Phe LP/P rs879254739 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005361 p.His327Tyr US rs747507019 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005362 p.Cys329Tyr LP/P rs761954844 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005363 p.Gly335Ser LP/P rs544453230 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005364 p.Cys338Ser LP/P rs879254753 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005365 p.Asp342Glu US rs780563386 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005366 p.Asp342Asn LP/P rs139361635 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005367 p.Gly343Ser LP/P rs730882096 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005368 p.Arg350Pro LP/P rs875989914 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005369 p.Cys352Tyr LP/P rs193922566 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005370 p.Asp354Gly US rs755449669 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005371 p.Asp354Val US rs755449669 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005372 p.Glu357Lys LP/P rs879254781 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005373 p.Cys364Arg US rs879254787 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005374 p.Cys368Arg LP/P rs879254791 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005375 p.Cys379Arg US rs879254803 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005376 p.Ala399Asp LP/P rs875989918 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005377 p.Leu401His US rs121908038 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005378 p.Glu408Lys US rs137943601 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005379 p.Leu414Arg US rs748554592 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005380 p.Arg416Gln US rs773658037 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005381 p.Arg416Trp LP/P rs570942190 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005382 p.Ile423Thr LP/P rs879254849 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005383 p.Val429Met LP/P rs28942078 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005384 p.Ala431Thr US rs28942079 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005385 p.Asp433His LP/P rs121908036 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005386 p.Thr434Lys LP/P rs745343524 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005387 p.Ile441Asn US rs879254862 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005388 p.Ile441Met US rs5933 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005389 p.Trp443Cys LP/P rs879254867 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005390 p.Gly478Arg LP/P rs144614838 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005391 p.Asp482His LP/P rs139624145 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005392 p.Trp483Arg US rs879254905 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005394 p.His485Arg LP/P rs879254906 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005395 p.Val523Met LP/P rs28942080 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005396 p.Pro526Ser US rs730882106 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005397 p.Gly546Asp LB/B rs28942081 - LDLR P01130 VAR_005398 p.Gly549Asp LP/P rs28941776 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005399 p.Asn564His LP/P rs397509365 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005400 p.Asn564Ser LP/P rs758194385 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005401 p.Gly565Val LP/P rs28942082 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005402 p.Asp579Asn LP/P rs875989929 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005403 p.Gly592Glu LP/P rs137929307 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005404 p.Leu599Ser US rs879255025 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005405 p.Arg633Cys LP/P rs746118995 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005406 p.Pro649Leu LP/P rs879255081 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005407 p.Cys667Tyr LP/P rs28942083 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005408 p.Cys677Arg LP/P rs775092314 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005409 p.Leu682Pro US rs879255119 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005410 p.Pro685Leu LP/P rs28942084 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005412 p.Asp700Glu US rs759858813 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005413 p.Thr726Ile LP/P rs45508991 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005414 p.Ile792Phe US rs761123215 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005415 p.Val797Met LP/P rs750518671 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005418 p.Val827Ile US rs137853964 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005419 p.Tyr828Cys LP/P rs28942085 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_005420 p.Gly844Asp LP/P rs121908037 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_007979 p.Ala50Ser LP/P rs137853960 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_007980 p.Ser56Pro LP/P rs878854026 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_007981 p.Asp175Tyr LP/P rs121908033 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_007982 p.Asp221Asn LP/P rs875989906 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_007983 p.Glu288Lys LP/P rs368657165 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_007984 p.Asp356Tyr LP/P rs767767730 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_007985 p.Gln366Arg LP/P rs746982741 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_007986 p.Cys379Tyr LP/P rs879254804 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_007987 p.Leu401Val LP/P rs146200173 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_007988 p.Leu432Val LP/P rs730882100 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_007989 p.Pro608Ser LP/P rs879255034 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_008995 p.Phe403Leu LP/P rs879254831 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_008996 p.Leu568Val LP/P rs746959386 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_008997 p.Glu714Lys LP/P rs869320652 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_011862 p.Gly2Arg LB/B rs5931 - LDLR P01130 VAR_011863 p.Val468Ile LB/B rs5932 - LDLR P01130 VAR_011864 p.Arg814Gln US rs5928 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_013949 p.Cys46Ser LP/P rs121908041 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_013950 p.Asp172His LB/B rs879254554 - LDLR P01130 VAR_013951 p.Cys184Tyr LP/P rs121908039 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_013952 p.Arg253Trp US rs150673992 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_013953 p.Cys261Phe LP/P rs121908040 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_013954 p.Arg406Gln LB/B rs552422789 - LDLR P01130 VAR_013955 p.Pro699Leu US rs201573863 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_024519 p.Ala391Thr LB/B rs11669576 - LDLR P01130 VAR_059375 p.Pro105Ser LB/B rs13306510 - LDLR P01130 VAR_062371 p.Cys134Phe LP/P rs879254514 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_062372 p.Cys134Trp LP/P rs879254515 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_062373 p.Cys222Tyr LP/P rs730882086 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_062374 p.Gln254Pro LP/P rs879254667 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_062375 p.Cys276Arg LP/P rs879254692 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_062376 p.Cys318Arg LP/P rs879254738 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_062377 p.Cys358Tyr LP/P rs875989915 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_062378 p.Asn370Thr LP/P rs879254792 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_062379 p.Asp415Gly US rs879254845 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_062380 p.Ile451Thr LP/P rs879254874 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_062381 p.Leu479Pro LP/P rs879254900 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_062382 p.Asp579Tyr LP/P rs875989929 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_062383 p.Pro826Ser LP/P rs879255217 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_065780 p.Asp139His LP/P rs879254517 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_065781 p.Glu201Lys LP/P rs879254589 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_065782 p.Cys255Ser LP/P rs879254668 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_065783 p.Arg471Gly US rs879254891 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_067196 p.Cys329Phe LP/P rs761954844 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072827 p.Ala50Thr US rs137853960 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072828 p.Cys143Arg LP/P rs875989901 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072829 p.Cys148Tyr LP/P rs879254526 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072830 p.Cys155Tyr LP/P rs879254536 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072831 p.Asp168Ala US rs879254549 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072832 p.Asp172Asn LP/P rs879254554 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072833 p.Cys184Trp LP/P rs879254571 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072834 p.His211Leu US rs879254603 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072835 p.Cys243Arg LP/P rs879254659 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072836 p.Arg257Trp LB/B rs200990725 - LDLR P01130 VAR_072837 p.Cys276Trp US rs146651743 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072838 p.His285Tyr US rs730882091 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072839 p.Arg300Gly LP/P rs767618089 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072840 p.Asp301Gly LP/P rs879254714 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072841 p.Gly314Arg US rs72658858 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072842 p.Ser326Cys LP/P rs879254747 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072843 p.Cys352Arg US rs879254769 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072844 p.Cys368Tyr US rs768430352 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072845 p.Gly373Asp US rs879254797 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072846 p.Thr404Pro US rs879254834 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072847 p.Arg406Trp LP/P rs121908043 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072848 p.Tyr442His US rs879254863 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072849 p.Thr454Asn LP/P rs879254879 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072850 p.Asp492Asn US rs373646964 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072851 p.Arg574Cys LP/P rs185098634 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072852 p.Arg574His LP/P rs777188764 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072853 p.Trp577Gly LP/P rs879255000 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072854 p.Trp577Ser US rs138947766 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072855 p.Ile585Thr US rs879255012 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072856 p.Arg595Trp LP/P rs373371572 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072857 p.Asp601His US rs753707206 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072858 p.Val639Asp LP/P rs794728584 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072859 p.Thr742Ile LB/B rs767546791 - LDLR P01130 VAR_072860 p.Val806Asp US rs879255208 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLR P01130 VAR_072861 p.Asn825Lys LP/P rs374045590 Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] LDLRAD2 Q5SZI1 VAR_034812 p.Asn134Thr LB/B rs10917051 - LDLRAP1 Q5SW96 VAR_023320 p.Ser202His LP/P rs386629678 Hypercholesterolemia, familial, 4 (FHCL4) [MIM:603813] LDLRAP1 Q5SW96 VAR_028403 p.Ser202Pro LB/B rs6687605 - LDLRAP1 Q5SW96 VAR_076925 p.Thr56Met LB/B rs752849346 - LECT2 O14960 VAR_011386 p.Ile58Val LB/B rs31517 - LEF1 Q9UJU2 VAR_035935 p.Gly113Arg US rs369649181 A colorectal cancer sample LEFTY1 O75610 VAR_024231 p.Asp322Ala LB/B rs360057 - LEFTY1 O75610 VAR_052567 p.Val57Met LB/B rs35273824 - LEFTY1 O75610 VAR_070888 p.Leu92Ser LB/B rs145431393 - LEFTY1 O75610 VAR_070889 p.Arg142Gln LB/B rs191758097 - LEFTY2 O00292 VAR_010385 p.Ser342Asn LP/P rs121909126 Left-right axis malformations (LRAM) [MIM:601877] LEFTY2 O00292 VAR_021980 p.Ser92Leu LB/B rs366439 - LEFTY2 O00292 VAR_021981 p.Pro286Leu LB/B rs2295418 - LEG1 Q6P5S2 VAR_033675 p.Cys308Gly LB/B rs9491833 - LEMD1 Q68G75 VAR_031999 p.Pro25Ser LB/B rs7531012 - LEMD2 Q8NC56 VAR_076992 p.Leu13Arg LP/P rs878852983 Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy (CTRCT46) [MIM:212500] LEMD2 Q8NC56 VAR_085694 p.Ser479Phe LP/P - Marbach-Rustad progeroid syndrome (MARUPS) [MIM:619322] LEMD3 Q9Y2U8 VAR_034605 p.Asp260Tyr LB/B rs7487311 - LENG1 Q96BZ8 VAR_051090 p.Lys97Glu LB/B rs35089861 - LENG8 Q96PV6 VAR_035294 p.Arg279Pro LB/B rs35061854 - LENG8 Q96PV6 VAR_035295 p.Ile557Val LB/B rs35336528 - LENG8 Q96PV6 VAR_082146 p.Glu661Lys US - - LENG9 Q96B70 VAR_029602 p.His153Arg LB/B rs10406453 - LENG9 Q96B70 VAR_029603 p.Arg499Pro LB/B rs10423424 - LEP P41159 VAR_004197 p.Val94Met LB/B rs17151919 - LEP P41159 VAR_008094 p.Arg105Trp LP/P rs104894023 Leptin deficiency (LEPD) [MIM:614962] LEP P41159 VAR_011955 p.Val110Met LB/B rs1800564 - LEP P41159 VAR_075144 p.Asp100Tyr LP/P rs724159998 Leptin deficiency (LEPD) [MIM:614962] LEPR P48357 VAR_002703 p.Lys109Arg LB/B rs1137100 - LEPR P48357 VAR_002704 p.Lys204Arg LB/B rs146442768 - LEPR P48357 VAR_002705 p.Gln223Arg LB/B rs1137101 - LEPR P48357 VAR_002706 p.Lys656Asn LB/B rs1805094 - LEPR P48357 VAR_002707 p.Ser675Thr LB/B rs373154589 - LEPR P48357 VAR_028201 p.Ile503Val LB/B rs13306526 - LEPR P48357 VAR_049167 p.Asp124Gly LB/B rs35573508 - LEPR P48357 VAR_049168 p.Thr699Met LB/B rs34499590 - LEPR P48357 VAR_075723 p.Tyr422His US - Leptin receptor deficiency (LEPRD) [MIM:614963] LEPR P48357 VAR_075724 p.Cys604Gly US - Leptin receptor deficiency (LEPRD) [MIM:614963] LEPR P48357 VAR_075725 p.Leu786Pro US rs1303050393 Leptin receptor deficiency (LEPRD) [MIM:614963] LETM1 O95202 VAR_087732 p.Ile293Asn LP/P - Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction (CONDMIM) [MIM:620089] LETM1 O95202 VAR_087733 p.Arg294Gln LP/P - Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction (CONDMIM) [MIM:620089] LETM1 O95202 VAR_087734 p.Pro300Ser LP/P - Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction (CONDMIM) [MIM:620089] LETM1 O95202 VAR_087735 p.Ile305Leu US - - LETM1 O95202 VAR_087736 p.Asp358Asn LP/P - Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction (CONDMIM) [MIM:620089] LETM1 O95202 VAR_087737 p.Arg380Pro US - Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction (CONDMIM) [MIM:620089] LETM1 O95202 VAR_087738 p.Arg393His US - Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction (CONDMIM) [MIM:620089] LETM1 O95202 VAR_087739 p.Lys587Arg LP/P - Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction (CONDMIM) [MIM:620089] LETMD1 Q6P1Q0 VAR_037033 p.Val84Ile LB/B rs12379 - LFNG Q8NES3 VAR_025850 p.Phe188Leu LP/P rs104894024 Spondylocostal dysostosis 3, autosomal recessive (SCDO3) [MIM:609813] LFNG Q8NES3 VAR_046785 p.Gly38Arg LB/B - - LFNG Q8NES3 VAR_046786 p.Val346Met LB/B rs71647813 - LFNG Q8NES3 VAR_088492 p.Asp201Asn LP/P - Spondylocostal dysostosis 3, autosomal recessive (SCDO3) [MIM:609813] LGALS14 Q8TCE9 VAR_055245 p.Cys67Arg LB/B rs4830 - LGALS14 Q8TCE9 VAR_055246 p.Phe127Leu LB/B rs10755 - LGALS16 A8MUM7 VAR_065877 p.His97Leu LB/B rs1860134 - LGALS2 P05162 VAR_036570 p.Glu132Gln US rs1434020843 A breast cancer sample LGALS2 P05162 VAR_049767 p.Val119Ile LB/B rs2235339 - LGALS3 P17931 VAR_012988 p.Pro64His LB/B rs4644 - LGALS3 P17931 VAR_012989 p.Thr98Pro LB/B rs4652 - LGALS3 P17931 VAR_049768 p.Arg183Lys LB/B rs10148371 - LGALS4 P56470 VAR_049769 p.Thr16Met LB/B rs8106404 - LGALS8 O00214 VAR_009710 p.Arg36Cys LB/B rs1041935 - LGALS8 O00214 VAR_012990 p.Phe19Tyr LB/B rs1126407 - LGALS8 O00214 VAR_012991 p.Met56Val LB/B rs1041937 - LGALS8 O00214 VAR_063506 p.Arg184Ser LB/B rs2243525 - LGALS9 O00182 VAR_020453 p.Gly5Ser LB/B rs3751093 - LGALS9C Q6DKI2 VAR_056004 p.Val126Met LB/B rs3907319 - LGI1 O95970 VAR_015771 p.Leu26Arg LP/P - Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_015772 p.Cys46Arg LP/P rs104894166 Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_015773 p.Glu383Ala LP/P rs28937874 Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_015774 p.Phe318Cys LP/P rs28939075 Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_023008 p.Cys42Gly LP/P rs797044996 Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_023009 p.Ser473Leu LP/P rs797044999 Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058538 p.Cys42Arg LP/P rs797044996 Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058539 p.Ala110Asp LP/P - Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058540 p.Ile122Lys LP/P rs119488100 Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058541 p.Glu123Lys LP/P - Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058542 p.Arg136Trp LP/P rs119488099 Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058543 p.Ser145Arg LP/P - Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058544 p.Leu154Pro LP/P - Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058545 p.Cys200Arg LP/P - Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058546 p.Leu232Pro LP/P rs104894167 Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058547 p.Ile298Thr LP/P - Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058548 p.Val432Glu LP/P - Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] LGI2 Q8N0V4 VAR_030536 p.Arg444Gln LB/B rs2232026 - LGI2 Q8N0V4 VAR_030537 p.Gln452Arg LB/B rs2232027 - LGI3 Q8N145 VAR_053488 p.Ala524Thr LB/B rs34112456 - LGI3 Q8N145 VAR_087684 p.Leu141His LP/P - Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects (IDDMDS) [MIM:620007] LGI3 Q8N145 VAR_087685 p.Asp331Asn LP/P rs1050199719 Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects (IDDMDS) [MIM:620007] LGI4 Q8N135 VAR_080055 p.Arg258Pro LP/P rs755500591 Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (AMC1) [MIM:617468] LGI4 Q8N135 VAR_080057 p.Val434Asp LP/P rs1064797094 Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (AMC1) [MIM:617468] LGMN Q99538 VAR_024588 p.Val18Ile LB/B rs2236264 - LGR4 Q9BXB1 VAR_044528 p.Ser215Gly LB/B rs2448010 - LGR4 Q9BXB1 VAR_044529 p.Asn233Ser LB/B rs2472617 - LGR4 Q9BXB1 VAR_044530 p.Ala480Val LB/B rs12284579 - LGR4 Q9BXB1 VAR_044531 p.Arg684Gly LB/B rs7125959 - LGR4 Q9BXB1 VAR_044532 p.Thr709Met LB/B rs34717439 - LGR4 Q9BXB1 VAR_044533 p.Asp844Gly US rs34804482 Delayed puberty, self-limited (DPSL) [MIM:619613] LGR4 Q9BXB1 VAR_086463 p.Ile96Val US rs757351670 Delayed puberty, self-limited (DPSL) [MIM:619613] LGR4 Q9BXB1 VAR_086464 p.Gly363Cys US - Delayed puberty, self-limited (DPSL) [MIM:619613] LGR5 O75473 VAR_049411 p.His383Arg LB/B rs12303775 - LGR5 O75473 VAR_049412 p.Val666Ala LB/B rs17109924 - LGR6 Q9HBX8 VAR_033479 p.Ala516Ser LB/B rs6668765 - LGR6 Q9HBX8 VAR_035762 p.Gly725Cys US - A colorectal cancer sample LGR6 Q9HBX8 VAR_035763 p.Pro928His US - A colorectal cancer sample LGR6 Q9HBX8 VAR_049413 p.Asn267Lys LB/B rs7553800 - LGR6 Q9HBX8 VAR_059324 p.Val592Ala LB/B rs788795 - LGSN Q5TDP6 VAR_054552 p.Asn26Tyr LB/B rs2459568 - LGSN Q5TDP6 VAR_054553 p.Gly46Glu LB/B rs35691434 - LGSN Q5TDP6 VAR_054554 p.Asn137His LB/B rs6454127 - LHB P01229 VAR_003189 p.Gln74Arg LP/P rs5030773 Hypogonadotropic hypogonadism 23 with or without anosmia (HH23) [MIM:228300] LHB P01229 VAR_014589 p.Trp28Arg LB/B rs1800447 - LHB P01229 VAR_014590 p.Ile35Thr LB/B rs34349826 - LHB P01229 VAR_015672 p.Ala18Thr LB/B rs5030775 - LHB P01229 VAR_015673 p.Gly122Ser LB/B rs5030774 - LHB P01229 VAR_034098 p.Met15Ile LB/B rs34247911 - LHCGR P22888 VAR_003550 p.Asn284Ser LB/B - - LHCGR P22888 VAR_003551 p.Ser306Asn LB/B - - LHCGR P22888 VAR_003552 p.Glu354Lys LP/P rs121912529 Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_003553 p.Ala373Val LP/P rs121912528 Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_003554 p.Met398Thr LP/P rs121912526 Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_003555 p.Ala568Val LP/P rs121912534 Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_003556 p.Met571Ile LP/P rs121912519 Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_003557 p.Ala572Val LP/P rs121912522 Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_003558 p.Thr577Ile LP/P rs121912521 Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_003559 p.Asp578Gly LP/P rs121912518 Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_003560 p.Ala593Pro LP/P rs121912520 Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_003562 p.Ser616Tyr LP/P rs121912525 Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_003563 p.Ile625Lys LP/P rs121912530 Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_010154 p.Cys131Arg LP/P rs121912527 Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_010155 p.Cys343Ser LP/P rs121912536 Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_010156 p.Leu457Arg LP/P rs121912535 Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_010157 p.Ile542Leu LP/P rs121912531 Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_010158 p.Cys543Arg LP/P rs121912537 Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_010159 p.Asp564Gly LP/P rs121912540 Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_010160 p.Ile575Leu LP/P rs767343825 Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_010161 p.Asp578Glu LP/P - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_010162 p.Asp578His US rs121912532 Leydig cell tumor LHCGR P22888 VAR_010163 p.Asp578Tyr LP/P rs121912532 Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_010164 p.Cys581Arg LP/P - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_035764 p.Asp564Asn US - A breast cancer sample LHCGR P22888 VAR_055922 p.Asn291Ser LB/B rs12470652 - LHCGR P22888 VAR_060737 p.Asn312Ser LB/B rs2293275 - LHCGR P22888 VAR_062336 p.Val144Phe LP/P rs121912539 Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_062337 p.Ile152Thr LP/P - Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_062338 p.Leu368Pro LP/P rs121912533 Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_062339 p.Leu502Pro LP/P rs121912538 Luteinizing hormone resistance (LHR) [MIM:238320] LHFPL2 Q6ZUX7 VAR_026913 p.Ile102Val LB/B rs2303654 - LHFPL5 Q8TAF8 VAR_032055 p.Tyr127Cys LP/P rs104893975 Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265] LHFPL5 Q8TAF8 VAR_032056 p.Thr165Met LP/P rs104893976 Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265] LHFPL5 Q8TAF8 VAR_032057 p.Arg176Leu LP/P rs774466373 Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265] LHFPL5 Q8TAF8 VAR_079038 p.Arg158Trp LP/P rs753739358 Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265] LHPP Q9H008 VAR_035163 p.Gln94Arg LB/B rs6597801 - LHX3 Q9UBR4 VAR_010713 p.Tyr111Cys LP/P rs104894117 Pituitary hormone deficiency, combined, 3 (CPHD3) [MIM:221750] LHX3 Q9UBR4 VAR_063240 p.Ala210Val LP/P rs137854503 Pituitary hormone deficiency, combined, 3 (CPHD3) [MIM:221750] LHX3 Q9UBR4 VAR_079378 p.Cys141Phe US - Pituitary hormone deficiency, combined, 3 (CPHD3) [MIM:221750] LHX4 Q969G2 VAR_046661 p.Asn328Ser LB/B rs7536561 - LHX4 Q969G2 VAR_058715 p.Arg84Cys LP/P rs121912642 Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700] LHX4 Q969G2 VAR_058716 p.Leu190Arg LP/P rs121912643 Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700] LHX4 Q969G2 VAR_058717 p.Ala210Pro LP/P rs121912641 Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700] LHX4 Q969G2 VAR_063241 p.Pro389Thr LP/P rs145433128 Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700] LIAS O43766 VAR_067839 p.Arg249His LP/P rs144133667 Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) [MIM:614462] LIAT1 Q6ZQX7 VAR_044008 p.Glu56Lys LB/B rs4581766 - LIAT1 Q6ZQX7 VAR_044009 p.Asp220Glu LB/B rs35229416 - LIFR P42702 VAR_021996 p.Ile633Met LB/B rs2303743 - LIFR P42702 VAR_025666 p.Ser279Pro LP/P - Stuve-Wiedemann syndrome 1 (STWS1) [MIM:601559] LIFR P42702 VAR_029109 p.His116Tyr LB/B rs3729734 - LIFR P42702 VAR_029110 p.Asp578Asn LB/B rs3729740 - LIFR P42702 VAR_029111 p.Val785Ile LB/B rs3110234 - LIFR P42702 VAR_036166 p.Phe1068Leu US - A colorectal cancer sample LIFR P42702 VAR_038626 p.Ser664Leu LB/B rs3729744 - LIG1 P18858 VAR_002262 p.Glu566Lys LP/P rs121434560 Immunodeficiency 96 (IMD96) [MIM:619774] LIG1 P18858 VAR_002263 p.Arg771Trp LP/P rs121434561 Immunodeficiency 96 (IMD96) [MIM:619774] LIG1 P18858 VAR_016766 p.Gly249Glu LB/B rs3730911 - LIG1 P18858 VAR_016767 p.Asn267Ser LB/B rs3730933 - LIG1 P18858 VAR_016768 p.Arg409His LB/B rs4987068 - LIG1 P18858 VAR_016769 p.Met480Val LB/B rs3730980 - LIG1 P18858 VAR_016770 p.Thr614Ile LB/B rs3731003 - LIG1 P18858 VAR_018802 p.Ala24Val LB/B rs3730855 - LIG1 P18858 VAR_018803 p.Arg62Trp LB/B rs3730863 - LIG1 P18858 VAR_018804 p.Val349Met LB/B rs3730947 - LIG1 P18858 VAR_018805 p.Val369Ile LB/B rs3730966 - LIG1 P18858 VAR_018806 p.Arg677Leu LB/B rs3731008 - LIG1 P18858 VAR_020194 p.Pro52Leu LB/B rs4987181 - LIG1 P18858 VAR_020195 p.Asp72Gly LB/B rs4987070 - LIG1 P18858 VAR_036511 p.Lys152Glu US rs780748107 A colorectal cancer sample LIG1 P18858 VAR_036512 p.Ser612Leu US rs780324684 A colorectal cancer sample LIG1 P18858 VAR_087009 p.Pro529Leu LB/B rs776651223 - LIG1 P18858 VAR_087010 p.Arg641Leu LP/P - Immunodeficiency 96 (IMD96) [MIM:619774] LIG1 P18858 VAR_087011 p.Val753Met LB/B rs146309259 - LIG3 P49916 VAR_018807 p.Arg867His LB/B rs3136025 - LIG3 P49916 VAR_020196 p.Arg224Trp LB/B rs3744356 - LIG3 P49916 VAR_020197 p.Pro986Ser LB/B rs4986973 - LIG3 P49916 VAR_021938 p.Lys898Thr LB/B rs4986974 - LIG3 P49916 VAR_036513 p.Asp717Asn US rs757797167 A colorectal cancer sample LIG3 P49916 VAR_072387 p.Tyr768His LB/B rs200981995 - LIG3 P49916 VAR_087022 p.Lys537Asn LP/P - Mitochondrial DNA depletion syndrome 20, MNGIE type (MTDPS20) [MIM:619780] LIG3 P49916 VAR_087023 p.Pro609Leu LP/P - Mitochondrial DNA depletion syndrome 20, MNGIE type (MTDPS20) [MIM:619780] LIG3 P49916 VAR_087025 p.Gly964Arg LP/P - Mitochondrial DNA depletion syndrome 20, MNGIE type (MTDPS20) [MIM:619780] LIG3 P49916 VAR_087026 p.Cys999Tyr LP/P - Mitochondrial DNA depletion syndrome 20, MNGIE type (MTDPS20) [MIM:619780] LIG4 P49917 VAR_012774 p.Arg278His US rs104894421 Leukemia LIG4 P49917 VAR_012774 p.Arg278His LP/P rs104894421 LIG4 syndrome (LIG4S) [MIM:606593] LIG4 P49917 VAR_012775 p.Gly469Glu LP/P rs104894420 LIG4 syndrome (LIG4S) [MIM:606593] LIG4 P49917 VAR_016771 p.Leu539Phe LB/B rs3742212 - LIG4 P49917 VAR_016772 p.Ile658Val LB/B rs2232641 - LIG4 P49917 VAR_016773 p.Ala857Thr LB/B rs2232642 - LIG4 P49917 VAR_018808 p.Pro231Ser LB/B rs3093765 - LIG4 P49917 VAR_029352 p.Ala3Val LB/B rs1805389 - LIG4 P49917 VAR_029353 p.Asp62His LB/B rs3093763 - LIG4 P49917 VAR_033884 p.Thr9Ile LB/B rs1805388 - LIG4 P49917 VAR_044124 p.Glu461Gly LB/B rs2232640 - LIG4 P49917 VAR_075826 p.Leu774Pro US rs1060499662 - LILRA1 O75019 VAR_049886 p.Ser153Gly LB/B rs10417589 - LILRA1 O75019 VAR_049887 p.Leu220Pro LB/B rs373854 - LILRA1 O75019 VAR_059396 p.Arg12Gly LB/B rs1974982 - LILRA2 Q8N149 VAR_016988 p.His25Leu LB/B rs1834697 - LILRA2 Q8N149 VAR_016989 p.His25Asn LB/B rs1834698 - LILRA2 Q8N149 VAR_056051 p.Val331Gly LB/B rs7249811 - LILRA2 Q8N149 VAR_056052 p.Gly361Ala LB/B rs7249154 - LILRA2 Q8N149 VAR_056053 p.Arg381Cys LB/B rs7249054 - LILRA3 Q8N6C8 VAR_016990 p.Pro3Ser LB/B rs11574606 - LILRA3 Q8N6C8 VAR_016991 p.Leu107Arg LB/B rs6509862 - LILRA3 Q8N6C8 VAR_016992 p.Tyr301His LB/B rs4473306 - LILRA4 P59901 VAR_056054 p.Leu27Pro LB/B rs2241384 - LILRA4 P59901 VAR_056055 p.Ile155Val LB/B rs10419832 - LILRA6 Q6PI73 VAR_033170 p.Leu69Trp LB/B rs620207 - LILRA6 Q6PI73 VAR_033171 p.Gly149Arg LB/B rs1052966 - LILRA6 Q6PI73 VAR_033172 p.Pro288Arg LB/B rs1052975 - LILRA6 Q6PI73 VAR_033173 p.Tyr400His LB/B rs8104206 - LILRB1 Q8NHL6 VAR_016993 p.Leu68Pro LB/B rs1061679 - LILRB1 Q8NHL6 VAR_016994 p.Ile142Thr LB/B rs1061680 - LILRB1 Q8NHL6 VAR_016995 p.Ser155Ile LB/B rs1061681 - LILRB1 Q8NHL6 VAR_016996 p.Leu620Phe LB/B rs634222 - LILRB1 Q8NHL6 VAR_049888 p.Ala93Thr LB/B rs12460501 - LILRB1 Q8NHL6 VAR_059398 p.His301Tyr LB/B rs1045818 - LILRB1 Q8NHL6 VAR_067316 p.Leu459Val LB/B rs1138737 - LILRB1 Q8NHL6 VAR_067317 p.Glu625Lys LB/B rs16985478 - LILRB2 Q8N423 VAR_016997 p.Arg20His LB/B rs383369 - LILRB2 Q8N423 VAR_016998 p.Asp161Glu LB/B rs373032 - LILRB2 Q8N423 VAR_016999 p.His300Tyr LB/B rs7247538 - LILRB2 Q8N423 VAR_017000 p.Cys306Trp LB/B rs7247451 - LILRB2 Q8N423 VAR_047432 p.Met235Val LB/B rs386056 - LILRB2 Q8N423 VAR_047433 p.Thr324Arg LB/B rs7247055 - LILRB2 Q8N423 VAR_047434 p.Phe326Ser LB/B rs7246737 - LILRB2 Q8N423 VAR_047435 p.Arg349Gly LB/B rs7247025 - LILRB2 Q8N423 VAR_061314 p.Arg322His LB/B rs1128646 - LILRB2 Q8N423 VAR_061315 p.Asp403Asn LB/B rs4993133 - LILRB3 O75022 VAR_017001 p.Val21Met LB/B rs1132588 - LILRB3 O75022 VAR_017002 p.Arg59Gln LB/B rs678876 - LILRB3 O75022 VAR_017003 p.Leu69Trp LB/B rs80077296 - LILRB3 O75022 VAR_017004 p.Glu90Gln LB/B rs1052963 - LILRB3 O75022 VAR_017005 p.Ser122Asn LB/B rs200783306 - LILRB3 O75022 VAR_017006 p.Trp205Gln LB/B rs1063805 - LILRB3 O75022 VAR_017007 p.Tyr400Arg US - - LILRB3 O75022 VAR_017008 p.Tyr400His LB/B rs1052992 - LILRB3 O75022 VAR_017009 p.Tyr400Phe LB/B rs8105096 - LILRB3 O75022 VAR_017010 p.His405Tyr LB/B rs1132604 - LILRB3 O75022 VAR_017012 p.Gln539His LB/B rs1053002 - LILRB3 O75022 VAR_017013 p.Val574Ala LB/B rs1053008 - LILRB3 O75022 VAR_079582 p.Gln171His LB/B rs557014003 - LILRB4 Q8NHJ6 VAR_017014 p.Asp223Gly LB/B rs731170 - LILRB4 Q8NHJ6 VAR_017015 p.Lys362Glu LB/B rs2764337 - LILRB4 Q8NHJ6 VAR_025501 p.Phe5Leu LB/B rs28366008 - LILRB4 Q8NHJ6 VAR_025502 p.Arg18Ser LB/B rs11540761 - LILRB4 Q8NHJ6 VAR_025503 p.Cys330Tyr LB/B rs11574575 - LILRB4 Q8NHJ6 VAR_025504 p.Asn335Asp LB/B rs11574576 - LILRB4 Q8NHJ6 VAR_025505 p.Gln414Arg LB/B rs1048801 - LILRB4 Q8NHJ6 VAR_030939 p.Lys362Thr LB/B rs11574589 - LILRB4 Q8NHJ6 VAR_047846 p.His20Asp LB/B rs11540762 - LILRB5 O75023 VAR_061316 p.Asp247Gly LB/B rs12975366 - LILRB5 O75023 VAR_085724 p.Pro542Arg LB/B rs76522818 - LIM2 P55344 VAR_069796 p.Phe105Val LP/P rs121913555 Cataract, multiple types 19 (CTRCT19) [MIM:615277] LIMA1 Q9UHB6 VAR_080864 p.Leu25Ile LB/B rs140372565 - LIMCH1 Q9UPQ0 VAR_033105 p.Met759Thr LB/B rs11734372 - LIMD1 Q9UGP4 VAR_021993 p.Gly415Arg LB/B rs3733113 - LIMD1 Q9UGP4 VAR_050147 p.Gly36Asp LB/B rs2578662 - LIME1 Q9H400 VAR_053918 p.Pro211Leu LB/B rs1151625 - LIMK1 P53667 VAR_042246 p.Gly190Ala LB/B rs35827364 - LIMK1 P53667 VAR_042247 p.Ser247Asn LB/B rs55661242 - LIMK1 P53667 VAR_042248 p.Arg422Gln LB/B rs55679316 - LIMK1 P53667 VAR_050148 p.Phe580Tyr LB/B rs178412 - LIMK2 P53671 VAR_034069 p.Gly35Ser LB/B rs5997917 - LIMK2 P53671 VAR_042249 p.Asp45Asn LB/B rs35923988 - LIMK2 P53671 VAR_042250 p.Arg213Cys LB/B rs34930775 - LIMK2 P53671 VAR_042251 p.Pro296Arg LB/B rs34875793 - LIMK2 P53671 VAR_042252 p.Arg418Cys LB/B rs35422808 - LIMK2 P53671 VAR_050149 p.Arg381His LB/B rs2229874 - LIMS2 Q7Z4I7 VAR_076527 p.Asn92Lys US rs754385302 Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue (MDRCMTT) [MIM:616827] LIMS2 Q7Z4I7 VAR_076528 p.Pro97Leu US rs768056213 Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue (MDRCMTT) [MIM:616827] LIMS2 Q7Z4I7 VAR_076529 p.Leu323Pro US rs869025562 Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue (MDRCMTT) [MIM:616827] LIN37 Q96GY3 VAR_051093 p.Pro172Ser LB/B rs35617825 - LIN37 Q96GY3 VAR_061674 p.Ala16Val LB/B rs170758 - LINC00114 Q6XXX2 VAR_026884 p.Ser21Thr LB/B rs2836662 - LINC00114 Q6XXX2 VAR_026885 p.Asn39Lys LB/B rs11908799 - LINC00114 Q6XXX2 VAR_026886 p.Ala52Ser LB/B rs11908743 - LINC00114 Q6XXX2 VAR_026887 p.Met104Arg LB/B rs16996776 - LINC00303 Q3SY05 VAR_047356 p.Val98Ala LB/B rs4951039 - LINC00322 Q6ZN03 VAR_050931 p.Leu116Phe LB/B rs564352 - LINC00322 Q6ZN03 VAR_050932 p.Ala149Thr LB/B rs2838262 - LINC00336 Q6ZUF6 VAR_046183 p.Ser13Arg LB/B rs7759154 - LINC00336 Q6ZUF6 VAR_046184 p.Leu73Pro LB/B rs210162 - LINC00336 Q6ZUF6 VAR_046185 p.Pro84Ser LB/B rs9469517 - LINC00482 Q8N8I6 VAR_032158 p.Val50Leu LB/B rs2056439 - LINC00482 Q8N8I6 VAR_032159 p.Arg119Cys LB/B rs2048058 - LINC00518 Q8N0U6 VAR_034646 p.Tyr106Cys LB/B rs303061 - LINC00523 Q86TU6 VAR_029588 p.Glu21Asp LB/B rs8011237 - LINC00526 Q96FQ7 VAR_050902 p.Pro16Ala LB/B rs7242964 - LINC00574 Q9H8X3 VAR_024304 p.Trp91Arg LB/B rs1078211 - LINC00574 Q9H8X3 VAR_024305 p.Lys119Arg LB/B rs1078208 - LINC00574 Q9H8X3 VAR_033682 p.Ser27Cys LB/B rs6926145 - LINC01554 Q52M75 VAR_035138 p.Arg85Cys LB/B rs17366761 - LINC01555 Q8NAE3 VAR_029856 p.Phe96Val LB/B rs4551616 - LINC01556 Q5JQF7 VAR_036902 p.Gly41Glu LB/B rs2071790 - LINC01559 Q495D7 VAR_030221 p.Pro38Leu LB/B rs11055389 - LINC01559 Q495D7 VAR_030222 p.Ala76Glu LB/B rs17821405 - LINC01559 Q495D7 VAR_030223 p.Ile84Val LB/B rs7308685 - LINC01587 Q99440 VAR_024301 p.Asn15Lys LB/B rs886532 - LINC01600 Q96MT4 VAR_050813 p.Ile2Phe LB/B rs17135340 - LINC01600 Q96MT4 VAR_050814 p.Pro43Ser LB/B rs9503233 - LINC02694 Q8NAA6 VAR_044023 p.Leu3Val LB/B rs7165988 - LINC02694 Q8NAA6 VAR_044024 p.Ala39Val LB/B rs11857596 - LINC02875 Q86X59 VAR_031769 p.Leu186Pro LB/B rs9907379 - LINC02908 Q6ZV77 VAR_031749 p.Lys168Glu LB/B rs12337910 - LINC02914 Q52M58 VAR_030224 p.Arg3Trp LB/B rs17097718 - LINC02914 Q52M58 VAR_030225 p.Val33Ala LB/B rs4905757 - LINC02915 Q8N8G6 VAR_044189 p.Thr59Met LB/B rs11853050 - LINC02915 Q8N8G6 VAR_044190 p.Glu77Lys LB/B rs16968547 - LINC03040 Q8N319 VAR_050816 p.Lys48Glu LB/B rs2295333 - LINC03040 Q8N319 VAR_061592 p.Val107Met LB/B rs60336135 - LINC03042 Q6ZUL3 VAR_046186 p.Arg81His LB/B rs1378332 - LINC03122 Q2M2E5 VAR_043940 p.Ala57Thr LB/B rs16893687 - LINC03122 Q2M2E5 VAR_043941 p.Arg101Trp LB/B rs436696 - LINGO1 Q96FE5 VAR_042436 p.Ser183Phe LB/B rs9855 - LINGO1 Q96FE5 VAR_081164 p.Tyr288Cys LP/P rs750612085 Intellectual developmental disorder, autosomal recessive 64 (MRT64) [MIM:618103] LINGO1 Q96FE5 VAR_081165 p.Arg290His LP/P rs757077698 Intellectual developmental disorder, autosomal recessive 64 (MRT64) [MIM:618103] LINGO2 Q7L985 VAR_039798 p.Arg507His LB/B rs17506843 - LINGO3 P0C6S8 VAR_059395 p.Arg426His LB/B rs7258841 - LINS1 Q8NG48 VAR_038668 p.Ile29Val LB/B rs11247226 - LINS1 Q8NG48 VAR_038669 p.Ala331Val LB/B rs34967129 - LINS1 Q8NG48 VAR_038670 p.Val406Met LB/B rs12719734 - LINS1 Q8NG48 VAR_038671 p.Ser472Thr LB/B rs2411837 - LINS1 Q8NG48 VAR_038672 p.Ile541Val LB/B rs12915007 - LINS1 Q8NG48 VAR_038673 p.Glu641Asp LB/B rs12157 - LINS1 Q8NG48 VAR_038674 p.Arg680Ser LB/B rs8451 - LINS1 Q8NG48 VAR_078341 p.Glu313Lys US rs1057519019 Intellectual developmental disorder, autosomal recessive 27 (MRT27) [MIM:614340] LIPA P38571 VAR_004247 p.Thr16Pro LB/B rs1051338 - LIPA P38571 VAR_004248 p.His129Pro LP/P rs1423914418 Cholesteryl ester storage disease (CESD) [MIM:278000] LIPA P38571 VAR_004249 p.His129Arg LP/P rs1423914418 Cholesteryl ester storage disease (CESD) [MIM:278000] LIPA P38571 VAR_004250 p.Leu200Pro LP/P rs121965086 Cholesteryl ester storage disease (CESD) [MIM:278000] LIPA P38571 VAR_004250 p.Leu200Pro LP/P rs121965086 Wolman disease (WOLD) [MIM:620151] LIPA P38571 VAR_026523 p.Gly23Arg LB/B rs1051339 - LIPA P38571 VAR_026524 p.Val29Leu LB/B rs17850891 - LIPA P38571 VAR_049821 p.Phe228Ser LB/B rs2228159 - LIPC P11150 VAR_004206 p.Val95Met LB/B rs6078 - LIPC P11150 VAR_004208 p.Asn215Ser LB/B rs6083 - LIPC P11150 VAR_004209 p.Ser289Phe LP/P rs121912502 Hepatic lipase deficiency (HL deficiency) [MIM:614025] LIPC P11150 VAR_004210 p.Thr405Met LP/P rs113298164 Hepatic lipase deficiency (HL deficiency) [MIM:614025] LIPC P11150 VAR_014179 p.Ser440Asn LB/B rs6079 - LIPC P11150 VAR_017024 p.Val342Ile LB/B rs145811475 - LIPC P11150 VAR_017025 p.Phe356Leu LB/B rs3829462 - LIPC P11150 VAR_017026 p.Asp409Ala LB/B rs142036980 - LIPE Q05469 VAR_025108 p.Tyr100His LB/B rs16975750 - LIPE Q05469 VAR_025109 p.Gln127His LB/B rs34080774 - LIPE Q05469 VAR_025110 p.Pro146Ser LB/B rs34348028 - LIPE Q05469 VAR_025111 p.Ser177Thr LB/B rs16975748 - LIPE Q05469 VAR_025112 p.Ala194Val LB/B rs34996020 - LIPE Q05469 VAR_025113 p.Arg217Gln LB/B rs3745238 - LIPE Q05469 VAR_025114 p.Lys497Asn LB/B rs35938529 - LIPE Q05469 VAR_025115 p.Asn499His LB/B rs33921216 - LIPE Q05469 VAR_025116 p.Arg938Ser LB/B rs7246232 - LIPE Q05469 VAR_036539 p.Pro146Gln US - A breast cancer sample LIPF P07098 VAR_011947 p.Thr161Ala LB/B rs814628 - LIPF P07098 VAR_020565 p.Phe224Ile LB/B rs6586145 - LIPF P07098 VAR_020566 p.Pro348Thr LB/B rs17333991 - LIPG Q9Y5X9 VAR_017027 p.Gly96Ser LB/B rs150879681 - LIPG Q9Y5X9 VAR_017028 p.Thr111Ile LB/B rs2000813 - LIPG Q9Y5X9 VAR_017029 p.Arg312His LB/B - - LIPG Q9Y5X9 VAR_034082 p.Gly26Ser LB/B rs9963243 - LIPH Q8WWY8 VAR_059050 p.Trp108Arg LP/P rs267607219 Hypotrichosis 7 (HYPT7) [MIM:604379] LIPH Q8WWY8 VAR_059050 p.Trp108Arg LP/P rs267607219 Woolly hair autosomal recessive 2 (ARWH2) [MIM:604379] LIPI Q6XZB0 VAR_023760 p.Cys55Tyr LB/B rs11909217 - LIPI Q6XZB0 VAR_023761 p.Gly364Glu LB/B rs74369337 - LIPI Q6XZB0 VAR_023762 p.Glu431Lys LB/B rs2822432 - LIPI Q6XZB0 VAR_023763 p.Asp444Glu LB/B rs7278737 - LIPJ Q5W064 VAR_032543 p.Ile210Val LB/B rs1409136 - LIPK Q5VXJ0 VAR_032160 p.Met331Ile LB/B rs1214464 - LIPK Q5VXJ0 VAR_032161 p.Ile391Thr LB/B rs17112457 - LIPM Q5VYY2 VAR_032191 p.Arg418Trp LB/B rs11202862 - LIPM Q5VYY2 VAR_059382 p.Leu274Ser LB/B rs3910680 - LIPN Q5VXI9 VAR_032192 p.Thr244Asn LB/B rs10788611 - LIPT1 Q9Y234 VAR_073669 p.Ser71Phe LP/P rs767568897 Lipoyltransferase 1 deficiency (LIPT1D) [MIM:616299] LIPT1 Q9Y234 VAR_073670 p.Arg98Gly LP/P rs137973334 Lipoyltransferase 1 deficiency (LIPT1D) [MIM:616299] LIPT1 Q9Y234 VAR_073671 p.Thr179Ala LP/P rs786205156 Lipoyltransferase 1 deficiency (LIPT1D) [MIM:616299] LIPT1 Q9Y234 VAR_088500 p.Leu180Ser LP/P - Lipoyltransferase 1 deficiency (LIPT1D) [MIM:616299] LIPT2 A6NK58 VAR_080037 p.Leu30Pro LP/P rs539962457 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities (NELABA) [MIM:617668] LIPT2 A6NK58 VAR_080038 p.Leu105Arg LP/P rs1190703859 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities (NELABA) [MIM:617668] LIPT2 A6NK58 VAR_080039 p.Leu126Arg LP/P rs753904927 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities (NELABA) [MIM:617668] LITAF Q99732 VAR_024014 p.Tyr23His US - One EMPD primary tumor LITAF Q99732 VAR_024015 p.Thr49Met LP/P rs141862602 Charcot-Marie-Tooth disease, demyelinating, 1C (CMT1C) [MIM:601098] LITAF Q99732 VAR_024016 p.Ile92Val LB/B rs4280262 - LITAF Q99732 VAR_024017 p.Gly112Ser LP/P rs104894519 Charcot-Marie-Tooth disease, demyelinating, 1C (CMT1C) [MIM:601098] LITAF Q99732 VAR_024018 p.Thr115Asn LP/P rs104894520 Charcot-Marie-Tooth disease, demyelinating, 1C (CMT1C) [MIM:601098] LITAF Q99732 VAR_024019 p.Trp116Gly LP/P rs104894521 Charcot-Marie-Tooth disease, demyelinating, 1C (CMT1C) [MIM:601098] LITAF Q99732 VAR_024020 p.Leu122Val LP/P rs104894522 Charcot-Marie-Tooth disease, demyelinating, 1C (CMT1C) [MIM:601098] LIX1 Q8N485 VAR_026039 p.Arg3Ile LB/B rs11558079 - LKAAEAR1 Q8TD35 VAR_042651 p.Gly9Trp LB/B rs4431000 - LKAAEAR1 Q8TD35 VAR_077877 p.Glu85Asp LB/B rs77021907 - LLGL1 Q15334 VAR_058710 p.Ser148Gly LB/B rs2290505 - LLGL1 Q15334 VAR_058711 p.Gln550His LB/B rs1063683 - LLGL2 Q6P1M3 VAR_034058 p.Arg748His LB/B rs35474687 - LLGL2 Q6P1M3 VAR_034059 p.Gly1001Ser LB/B rs35886912 - LLGL2 Q6P1M3 VAR_050069 p.Arg45His LB/B rs1671036 - LLGL2 Q6P1M3 VAR_050070 p.Phe479Leu LB/B rs1671021 - LLGL2 Q6P1M3 VAR_050071 p.Pro488Leu LB/B rs35991442 - LLGL2 Q6P1M3 VAR_050072 p.Leu490Pro LB/B rs1671021 - LLGL2 Q6P1M3 VAR_050073 p.Pro759Ser LB/B rs1661715 - LLGL2 Q6P1M3 VAR_050075 p.Pro790Leu LB/B rs1661714 - LMAN1 P49257 VAR_013703 p.Arg14Gln LB/B rs1043302 - LMAN1 P49257 VAR_013704 p.Val39Ala LB/B rs33926449 - LMAN1 P49257 VAR_013705 p.Met410Leu LB/B rs2298711 - LMAN1 P49257 VAR_049770 p.Ile355Thr LB/B rs3737392 - LMAN1 P49257 VAR_071969 p.Trp67Ser LP/P - Factor V and factor VIII combined deficiency 1 (F5F8D1) [MIM:227300] LMAN1L Q9HAT1 VAR_049771 p.Arg105Gln LB/B rs3803568 - LMAN1L Q9HAT1 VAR_049772 p.Arg517Ser LB/B rs1060480 - LMAN2L Q9H0V9 VAR_076429 p.Arg53Gln LP/P rs869320632 Intellectual developmental disorder, autosomal recessive 52 (MRT52) [MIM:616887] LMBR1 Q8WVP7 VAR_031900 p.Thr228Ala LB/B rs6957768 - LMBRD1 Q9NUN5 VAR_029047 p.Thr144Ala LB/B rs12214456 - LMBRD1 Q9NUN5 VAR_029048 p.Ile395Val LB/B rs17854411 - LMBRD1 Q9NUN5 VAR_029049 p.Asp469Glu LB/B rs12648 - LMBRD2 Q68DH5 VAR_086730 p.Trp123Arg LP/P - Developmental delay with variable neurologic and brain abnormalities (DENBA) [MIM:619694] LMBRD2 Q68DH5 VAR_086731 p.Glu178Lys US - Developmental delay with variable neurologic and brain abnormalities (DENBA) [MIM:619694] LMBRD2 Q68DH5 VAR_086732 p.Trp193Arg US - Developmental delay with variable neurologic and brain abnormalities (DENBA) [MIM:619694] LMBRD2 Q68DH5 VAR_086733 p.Lys274Glu US rs1581052047 Developmental delay with variable neurologic and brain abnormalities (DENBA) [MIM:619694] LMBRD2 Q68DH5 VAR_086734 p.Gln326Glu US - Developmental delay with variable neurologic and brain abnormalities (DENBA) [MIM:619694] LMBRD2 Q68DH5 VAR_086735 p.Met479Arg US - Developmental delay with variable neurologic and brain abnormalities (DENBA) [MIM:619694] LMBRD2 Q68DH5 VAR_086736 p.Arg483His LP/P - Developmental delay with variable neurologic and brain abnormalities (DENBA) [MIM:619694] LMF1 Q96S06 VAR_030487 p.Ser203Pro LB/B rs11540337 - LMF1 Q96S06 VAR_030488 p.Pro562Arg LB/B rs4984948 - LMF1 Q96S06 VAR_053829 p.Val164Ala LB/B rs35663121 - LMF1 Q96S06 VAR_053830 p.Arg364Gln LB/B rs35168378 - LMF2 Q9BU23 VAR_039803 p.Pro68Leu US rs376748648 A breast cancer sample LMF2 Q9BU23 VAR_039804 p.Thr479Met LB/B rs8136495 - LMLN Q96KR4 VAR_060158 p.Glu98Asp LB/B rs7373165 - LMNA P02545 VAR_009971 p.Tyr45Cys LP/P rs58436778 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009972 p.Arg50Pro LP/P rs60695352 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009972 p.Arg50Pro LP/P rs60695352 Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_009974 p.Ile63Ser LP/P rs57793737 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009975 p.Leu85Arg LP/P rs28933090 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_009977 p.Asn195Lys LP/P rs28933091 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_009978 p.Glu203Gly LP/P rs28933092 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_009979 p.His222Tyr LP/P rs28928901 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009980 p.Arg249Gln LP/P rs59332535 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009982 p.Gln294Pro LP/P rs61616775 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009983 p.Arg336Gln LP/P rs58105277 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009984 p.Arg343Gln LP/P rs61177390 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009985 p.Glu358Lys LP/P rs60458016 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009985 p.Glu358Lys LP/P rs60458016 Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_009986 p.Met371Lys LP/P rs59653062 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009987 p.Arg386Lys LP/P rs267607545 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009988 p.Arg453Trp LP/P rs58932704 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009989 p.Gly465Asp LP/P rs61282106 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_009990 p.Ile469Thr LP/P rs57394692 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009991 p.Arg482Leu LP/P rs11575937 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_009992 p.Arg482Gln LP/P rs11575937 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_009993 p.Arg482Trp LP/P rs57920071 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_009994 p.Lys486Asn LP/P rs59981161 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_009995 p.Arg527Pro LP/P rs57520892 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009995 p.Arg527Pro LP/P rs57520892 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_009996 p.Thr528Lys LP/P rs57629361 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009997 p.Leu530Pro LP/P rs60934003 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009998 p.Arg582His LP/P rs57830985 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_016205 p.Arg377His LP/P rs61672878 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_016913 p.Arg133Leu LP/P rs60864230 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_017656 p.Ala57Pro LP/P rs28928903 Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH) [MIM:212112] LMNA P02545 VAR_017657 p.Arg133Pro LP/P rs60864230 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_017658 p.Leu140Arg LP/P rs60652225 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_017659 p.Glu145Lys LP/P rs60310264 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_017660 p.Glu161Lys LP/P rs28933093 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_017661 p.Arg298Cys LP/P rs59885338 Charcot-Marie-Tooth disease, axonal, 2B1 (CMT2B1) [MIM:605588] LMNA P02545 VAR_017662 p.Arg471Cys LP/P rs28928902 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_017663 p.Arg527Cys LP/P rs57318642 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_017664 p.Gly608Ser LP/P rs61064130 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_018727 p.Arg527His LP/P rs57520892 Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370] LMNA P02545 VAR_034706 p.Arg60Gly LP/P rs28928900 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_034706 p.Arg60Gly LP/P rs28928900 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_034707 p.Ser143Phe LP/P rs58912633 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_034709 p.Ala529Val LP/P rs60580541 Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370] LMNA P02545 VAR_034710 p.Lys542Asn LP/P rs56673169 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_039745 p.Thr10Ile US rs57077886 - LMNA P02545 VAR_039746 p.Arg25Gly LP/P rs58327533 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039747 p.Arg25Pro LP/P rs61578124 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039748 p.Arg28Trp LP/P rs59914820 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_039750 p.Glu33Asp LB/B rs57966821 - LMNA P02545 VAR_039751 p.Glu33Gly LP/P rs267607614 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039752 p.Leu35Val LP/P rs56694480 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039753 p.Ala43Thr LP/P rs60446065 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039754 p.Arg50Ser LP/P rs59931416 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039755 p.Arg62Gly LP/P rs56793579 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_039756 p.Ile63Asn LP/P rs57793737 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039757 p.Glu65Gly LP/P - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039758 p.Arg89Leu LP/P rs59040894 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039759 p.Lys97Glu LP/P rs59065411 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039760 p.Leu140Pro LP/P rs60652225 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039761 p.Ser143Pro LP/P rs61661343 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039762 p.Thr150Pro LP/P rs58917027 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039763 p.Arg190Gln LP/P rs267607571 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039763 p.Arg190Gln LP/P rs267607571 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039764 p.Arg190Trp LP/P rs59026483 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039765 p.Asp192Gly LP/P rs57045855 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039767 p.Glu203Lys LP/P rs61195471 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039768 p.Leu215Pro LP/P rs61295588 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039769 p.His222Pro LP/P rs58034145 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039770 p.Asp230Asn LP/P rs61214927 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_039771 p.Gly232Glu LP/P rs57207746 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039772 p.Leu248Pro LP/P rs58850446 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039773 p.Lys260Asn US - - LMNA P02545 VAR_039774 p.Tyr267Cys LP/P rs57048196 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039775 p.Glu317Lys LP/P rs56816490 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039776 p.Arg349Leu LP/P rs58789393 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039777 p.Arg377Leu LP/P rs61672878 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039778 p.Arg399Cys LP/P rs58672172 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039778 p.Arg399Cys LP/P rs58672172 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_039779 p.Arg435Cys LP/P rs150840924 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039780 p.Asp446Val LP/P rs58541611 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039781 p.Asn456Ile LP/P rs60992550 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039782 p.Asn456Lys LP/P rs61235244 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039783 p.Tyr481His LP/P rs57747780 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039784 p.Trp520Ser LP/P rs58362413 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039785 p.Thr528Arg LP/P rs57629361 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039786 p.Arg541Cys LP/P rs56984562 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039787 p.Arg541His LP/P rs61444459 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039788 p.Arg541Ser LP/P rs56984562 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039788 p.Arg541Ser LP/P rs56984562 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039789 p.Ser573Leu LP/P rs60890628 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039789 p.Ser573Leu LP/P rs60890628 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_039789 p.Ser573Leu LP/P rs60890628 Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370] LMNA P02545 VAR_039790 p.Glu578Val LB/B rs61224243 - LMNA P02545 VAR_039791 p.Arg624His LP/P rs13768 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039792 p.Arg644Cys US rs142000963 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039792 p.Arg644Cys US rs142000963 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_063588 p.Asn39Ser LP/P rs57983345 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_063588 p.Asn39Ser LP/P rs57983345 Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_063589 p.Arg249Trp LP/P rs121912496 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_063589 p.Arg249Trp LP/P rs121912496 Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_063590 p.Leu302Pro LP/P rs267607596 Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_063591 p.Leu380Ser LP/P rs121912495 Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_063592 p.Arg453Pro LP/P rs267607598 Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_063593 p.Arg455Pro LP/P rs267607597 Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_063594 p.Asn456Asp LP/P rs267607599 Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_064055 p.Leu59Arg LP/P rs58922911 Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH) [MIM:212112] LMNA P02545 VAR_064962 p.Arg189Pro LP/P rs267607643 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064964 p.Phe206Leu LP/P rs267607629 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064965 p.Ser268Pro LP/P rs267607630 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064966 p.Leu271Pro LP/P rs267607641 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064967 p.Ser295Pro LP/P rs267607633 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064968 p.Ser303Pro LP/P rs61527854 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064970 p.Glu361Lys LP/P rs267607634 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064971 p.Gly449Asp LP/P rs267607637 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064972 p.Leu454Pro LP/P rs267607638 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064973 p.Asp461Tyr LP/P rs267607642 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064974 p.Trp467Arg LP/P rs267607639 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064975 p.Arg541Pro LP/P rs61444459 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064976 p.Gly602Ser LP/P rs60662302 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_067257 p.Leu92Phe LP/P rs267607560 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_067258 p.Gly523Arg US rs201583907 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_067697 p.Arg225Gln LP/P rs199474724 Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) [MIM:616516] LMNA P02545 VAR_070174 p.Arg101Pro LP/P rs267607568 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_070175 p.Glu138Lys LP/P rs267607649 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_070176 p.Arg166Pro LP/P rs267607570 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_070177 p.Ile210Ser LP/P rs267607572 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_070178 p.Asp300Gly LP/P rs79907212 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_070179 p.Ala318Thr LP/P rs267607574 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_070180 p.Arg388His LP/P rs267607576 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_070181 p.Arg439Cys LP/P rs62636506 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_070182 p.Arg471His LP/P rs267607578 Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_071968 p.Lys515Glu LP/P - Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_072817 p.Gly125Ser US rs267607605 - LMNA P02545 VAR_072818 p.Arg401Cys LP/P rs61094188 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_072819 p.Gly411Asp LB/B rs267607647 - LMNA P02545 VAR_072820 p.Gly413Cys LB/B rs766811975 - LMNA P02545 VAR_072821 p.Val415Ile US rs267607606 - LMNA P02545 VAR_072822 p.Arg419Cys LB/B rs755686359 - LMNA P02545 VAR_072823 p.Leu421Pro LB/B rs267607564 - LMNA P02545 VAR_072824 p.Arg427Gly US - - LMNA P02545 VAR_072825 p.Thr488Pro LB/B rs267607607 - LMNA P02545 VAR_072826 p.Gly631Asp LB/B rs267607648 - LMNA P02545 VAR_076562 p.Thr24Ser LP/P - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) [MIM:616516] LMNA P02545 VAR_076563 p.Tyr259Cys LP/P - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNB1 P20700 VAR_031646 p.Ala501Val LB/B rs36105360 - LMNB1 P20700 VAR_071077 p.Ala436Val US rs1380634377 - LMNB1 P20700 VAR_085497 p.Arg29Trp US rs1295707923 Leukodystrophy, demyelinating, autosomal dominant, adult-onset (ADLD) [MIM:169500] LMNB1 P20700 VAR_085498 p.Lys33Glu LP/P rs1750497172 Microcephaly 26, primary, autosomal dominant (MCPH26) [MIM:619179] LMNB1 P20700 VAR_085499 p.Lys33Thr LB/B rs1303994586 - LMNB1 P20700 VAR_085501 p.Arg42Trp LP/P - Microcephaly 26, primary, autosomal dominant (MCPH26) [MIM:619179] LMNB1 P20700 VAR_085502 p.Arg90Pro LP/P rs1750506249 Microcephaly 26, primary, autosomal dominant (MCPH26) [MIM:619179] LMNB1 P20700 VAR_085503 p.Ala152Gly LP/P - Microcephaly 26, primary, autosomal dominant (MCPH26) [MIM:619179] LMNB2 Q03252 VAR_031063 p.Arg235Gln LB/B rs121912497 - LMNB2 Q03252 VAR_031064 p.Ala427Thr LP/P rs57521499 Partial acquired lipodystrophy (APLD) [MIM:608709] LMNB2 Q03252 VAR_036370 p.Arg236Trp US rs774297966 A colorectal cancer sample LMNB2 Q03252 VAR_074170 p.His157Tyr LP/P rs797045143 Epilepsy, progressive myoclonic 9 (EPM9) [MIM:616540] LMNB2 Q03252 VAR_074171 p.Tyr252His LP/P - Partial acquired lipodystrophy (APLD) [MIM:608709] LMNB2 Q03252 VAR_085504 p.Asn54His LP/P rs1972096108 Microcephaly 27, primary, autosomal dominant (MCPH27) [MIM:619180] LMNB2 Q03252 VAR_085505 p.Glu398Lys LP/P rs1971791380 Microcephaly 27, primary, autosomal dominant (MCPH27) [MIM:619180] LMNTD1 Q8N9Z9 VAR_049809 p.Ala264Thr LB/B rs35450203 - LMNTD1 Q8N9Z9 VAR_049810 p.Glu267Gly LB/B rs34326830 - LMNTD1 Q8N9Z9 VAR_049811 p.Thr289Ala LB/B rs34732786 - LMNTD1 Q8N9Z9 VAR_049812 p.Ala290Thr LB/B rs34074522 - LMNTD1 Q8N9Z9 VAR_049813 p.Thr366Ser LB/B rs1479500 - LMNTD2 Q8IXW0 VAR_027732 p.Ala44Thr LB/B rs2061586 - LMO7 Q8WWI1 VAR_036189 p.Thr354Ala US - A colorectal cancer sample LMO7 Q8WWI1 VAR_036190 p.Leu785Met US - A colorectal cancer sample LMO7 Q8WWI1 VAR_056163 p.Pro1547Gln LB/B rs7988661 - LMOD1 P29536 VAR_021839 p.Thr295Met LB/B rs2820312 - LMOD3 Q0VAK6 VAR_029088 p.Ala560Val LB/B rs17005363 - LMOD3 Q0VAK6 VAR_034083 p.Lys438Met LB/B rs6810145 - LMOD3 Q0VAK6 VAR_052401 p.Ile263Thr LB/B rs9835034 - LMOD3 Q0VAK6 VAR_061863 p.Arg83His LB/B rs35740823 - LMOD3 Q0VAK6 VAR_072643 p.Gly326Arg LP/P - Nemaline myopathy 10 (NEM10) [MIM:616165] LMTK2 Q8IWU2 VAR_028940 p.Pro30Ala LB/B rs3735252 - LMTK2 Q8IWU2 VAR_028941 p.Leu780Met LB/B rs11765552 - LMTK2 Q8IWU2 VAR_028942 p.Asp1061Asn LB/B rs3801295 - LMTK2 Q8IWU2 VAR_041727 p.Asp484His US rs147940573 A lung large cell carcinoma sample LMTK2 Q8IWU2 VAR_041728 p.Val595Ile LB/B rs34461195 - LMTK2 Q8IWU2 VAR_041729 p.Val624Met LB/B rs34628253 - LMTK2 Q8IWU2 VAR_041730 p.Ile693Thr LB/B rs56204700 - LMTK2 Q8IWU2 VAR_041731 p.Val849Phe LB/B rs56196840 - LMTK2 Q8IWU2 VAR_041732 p.Ala862Thr LB/B rs34005293 - LMTK2 Q8IWU2 VAR_041733 p.Ser916Arg LB/B rs55867257 - LMTK2 Q8IWU2 VAR_041734 p.Asp1220Asn LB/B rs35912712 - LMTK2 Q8IWU2 VAR_041735 p.Ala1341Gly LB/B rs56343792 - LMTK2 Q8IWU2 VAR_041736 p.Ser1401Asn LB/B rs45488394 - LMTK3 Q96Q04 VAR_028943 p.Leu929Val LB/B rs1643478 - LMTK3 Q96Q04 VAR_057116 p.Val900Leu LB/B rs1643478 - LMX1A Q8TE12 VAR_083732 p.Cys97Ser US - Deafness, autosomal dominant, 7 (DFNA7) [MIM:601412] LMX1A Q8TE12 VAR_083733 p.Glu126Lys LB/B - - LMX1A Q8TE12 VAR_083734 p.Val241Leu LP/P - Deafness, autosomal dominant, 7 (DFNA7) [MIM:601412] LMX1A Q8TE12 VAR_083735 p.Ile369Thr US - - LMX1B O60663 VAR_004198 p.Cys118Phe LP/P rs121909488 Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_004199 p.Cys165Trp LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_004200 p.Arg223Gln LP/P rs121909491 Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_004201 p.Ala236Pro LP/P rs1588307140 Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_004202 p.Ser241Pro LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_004203 p.Arg249Pro LP/P rs1056252582 Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_004204 p.Ala253Val LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_004205 p.Asn269Lys LP/P rs121909486 Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015190 p.His77Asn LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015191 p.Leu81Trp LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015192 p.Cys83Phe LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015193 p.Cys83Trp LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015194 p.Cys103Trp LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015195 p.Cys118Tyr LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015196 p.His137Tyr LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015197 p.Cys140Tyr LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015198 p.Trp266Cys LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015201 p.Cys59Arg LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015202 p.Cys59Ser LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015203 p.His77Gln LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015204 p.His77Tyr LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015205 p.Cys80Arg LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015206 p.Cys83Gly LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015207 p.Cys83Tyr LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015208 p.Cys86Arg LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015209 p.Asp106Gly LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015210 p.Cys143Ser LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015211 p.Cys146Phe LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015212 p.Cys146Tyr LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015213 p.Leu252Pro LP/P - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_047755 p.Ser75Phe LB/B rs2235058 - LMX1B O60663 VAR_085231 p.Arg246Pro LP/P rs1191455921 Focal segmental glomerulosclerosis 10 (FSGS10) [MIM:256020] LMX1B O60663 VAR_085232 p.Arg246Gln LP/P rs1191455921 Focal segmental glomerulosclerosis 10 (FSGS10) [MIM:256020] LNPEP Q9UIQ6 VAR_012812 p.Ala763Thr LB/B rs2303138 - LNPEP Q9UIQ6 VAR_031616 p.Ser86Pro LB/B rs3797799 - LNPEP Q9UIQ6 VAR_031617 p.Ile963Val LB/B rs11746232 - LNPEP Q9UIQ6 VAR_051567 p.Asn594Ile LB/B rs12520455 - LNPEP Q9UIQ6 VAR_051568 p.Ser913Thr LB/B rs17087233 - LNX2 Q8N448 VAR_024612 p.Ser198Pro LB/B rs8002697 - LONP1 P36776 VAR_051564 p.Glu87Asp LB/B rs34413649 - LONP1 P36776 VAR_051565 p.Arg241Gln LB/B rs11085147 - LONP1 P36776 VAR_067708 p.Ala829Thr LB/B rs35804229 - LONP1 P36776 VAR_067709 p.Val911Ile LB/B rs1062373 - LONP1 P36776 VAR_073338 p.Glu476Ala LP/P - CODAS syndrome (CODASS) [MIM:600373] LONP1 P36776 VAR_073339 p.Ser631Tyr LP/P rs879255248 CODAS syndrome (CODASS) [MIM:600373] LONP1 P36776 VAR_073340 p.Ala670Val LP/P rs770036526 CODAS syndrome (CODASS) [MIM:600373] LONP1 P36776 VAR_073341 p.Arg672Cys LP/P rs777009012 CODAS syndrome (CODASS) [MIM:600373] LONP1 P36776 VAR_073342 p.Pro676Ser LP/P rs879255247 CODAS syndrome (CODASS) [MIM:600373] LONP1 P36776 VAR_073343 p.Arg679His LP/P rs549574673 CODAS syndrome (CODASS) [MIM:600373] LONP1 P36776 VAR_073344 p.Arg721Gly LP/P rs147588238 CODAS syndrome (CODASS) [MIM:600373] LONP1 P36776 VAR_073345 p.Ala724Val LP/P rs879255249 CODAS syndrome (CODASS) [MIM:600373] LONP1 P36776 VAR_073346 p.Pro749Ser LP/P - CODAS syndrome (CODASS) [MIM:600373] LONP1 P36776 VAR_073347 p.Gly767Glu LP/P rs562553348 CODAS syndrome (CODASS) [MIM:600373] LONRF1 Q17RB8 VAR_058706 p.Ile265Leu LB/B rs1139354 - LONRF2 Q1L5Z9 VAR_030590 p.Leu183Pro LB/B rs4851287 - LONRF2 Q1L5Z9 VAR_035953 p.Arg562Trp US rs773205136 A colorectal cancer sample LONRF2 Q1L5Z9 VAR_054639 p.Leu426Pro LB/B rs4851287 - LONRF3 Q496Y0 VAR_035954 p.Ala122Gly US rs61730253 A breast cancer sample LORICRIN P23490 VAR_047712 p.Ser29Gly LB/B rs6661601 - LORICRIN P23490 VAR_061676 p.Ser285Phe LB/B rs56816110 - LOX P28300 VAR_004282 p.Arg158Gln LB/B rs1800449 - LOX P28300 VAR_077534 p.Ala79Thr US rs752839330 Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168] LOX P28300 VAR_077535 p.Leu154Phe US rs767855588 Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168] LOX P28300 VAR_077536 p.Thr248Ile US rs1561420103 Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168] LOX P28300 VAR_077537 p.Gln267Pro LP/P rs886040967 Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168] LOX P28300 VAR_077538 p.Ser280Ile LP/P rs886040965 Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168] LOX P28300 VAR_077539 p.Met298Arg LP/P rs876657852 Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168] LOX P28300 VAR_077540 p.Ser348Arg LP/P rs1561417568 Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168] LOXHD1 Q8IVV2 VAR_056923 p.Val363Ile LB/B rs10163657 - LOXHD1 Q8IVV2 VAR_056924 p.Gly626Cys LB/B rs34589386 - LOXHD1 Q8IVV2 VAR_056925 p.Gly632Cys LB/B rs35088381 - LOXHD1 Q8IVV2 VAR_056926 p.Asp676Gly LB/B rs16978578 - LOXHD1 Q8IVV2 VAR_056927 p.Val825Met LB/B rs36086089 - LOXHD1 Q8IVV2 VAR_056928 p.Thr1177Met LB/B rs7244681 - LOXHD1 Q8IVV2 VAR_056929 p.Glu1417Gly LB/B rs12606417 - LOXL1 Q08397 VAR_022135 p.Gly153Asp LB/B rs3825942 - LOXL1 Q08397 VAR_028436 p.Arg141Leu LB/B rs1048661 - LOXL2 Q9Y4K0 VAR_024527 p.Met570Leu LB/B rs1063582 - LOXL2 Q9Y4K0 VAR_050010 p.Ser359Trp LB/B rs4602894 - LOXL3 P58215 VAR_050011 p.Ile615Phe LB/B rs17010021 - LOXL3 P58215 VAR_077909 p.Cys676Tyr US rs786204838 - LOXL4 Q96JB6 VAR_050012 p.Arg154Gln LB/B rs33995374 - LOXL4 Q96JB6 VAR_050013 p.Asp405Ala LB/B rs1983864 - LOXL4 Q96JB6 VAR_059431 p.Pro372Thr LB/B rs11189525 - LPA P08519 VAR_006633 p.Trp1685Arg LB/B rs1211014575 - LPA P08519 VAR_047293 p.Arg990Gln LB/B rs41259144 - LPA P08519 VAR_047294 p.Leu1358Val LB/B rs7765803 - LPA P08519 VAR_047295 p.Leu1372Val LB/B rs7765781 - LPA P08519 VAR_047296 p.Thr1399Pro LB/B rs41272110 - LPA P08519 VAR_047297 p.Arg1421Gln LB/B rs41272112 - LPA P08519 VAR_047298 p.Met1598Thr LB/B rs41264308 - LPA P08519 VAR_047299 p.Met1679Thr LB/B rs1801693 - LPA P08519 VAR_047300 p.Gly1822Ala LB/B rs41265936 - LPA P08519 VAR_047301 p.Ile1891Met LB/B rs3798220 - LPA P08519 VAR_047302 p.Arg2016Cys LB/B rs3124784 - LPAL2 Q16609 VAR_051100 p.Thr91Met LB/B rs7749199 - LPAR1 Q92633 VAR_049414 p.Asn77Ser LB/B rs11542862 - LPAR3 Q9UBY5 VAR_049415 p.Arg231Gln LB/B rs35745543 - LPAR6 P43657 VAR_016253 p.Cys137Trp LB/B rs4151553 - LPAR6 P43657 VAR_022636 p.Ile33Val LB/B rs1060585 - LPAR6 P43657 VAR_044326 p.Asp63Val LP/P rs879255262 Hypotrichosis 8 (HYPT8) [MIM:278150] LPAR6 P43657 VAR_044326 p.Asp63Val LP/P rs879255262 Woolly hair autosomal recessive 1 with or without hypotrichosis (ARWH1) [MIM:278150] LPAR6 P43657 VAR_044327 p.Ile188Phe LP/P rs121434307 Hypotrichosis 8 (HYPT8) [MIM:278150] LPAR6 P43657 VAR_044327 p.Ile188Phe LP/P rs121434307 Woolly hair autosomal recessive 1 with or without hypotrichosis (ARWH1) [MIM:278150] LPAR6 P43657 VAR_044328 p.Glu189Lys LP/P rs121434309 Hypotrichosis 8 (HYPT8) [MIM:278150] LPAR6 P43657 VAR_044328 p.Glu189Lys LP/P rs121434309 Woolly hair autosomal recessive 1 with or without hypotrichosis (ARWH1) [MIM:278150] LPAR6 P43657 VAR_049430 p.Trp307Cys LB/B rs17071686 - LPAR6 P43657 VAR_088338 p.Ser3Thr US - Hypotrichosis 8 (HYPT8) [MIM:278150] LPAR6 P43657 VAR_088339 p.Gly146Arg LP/P - Hypotrichosis 8 (HYPT8) [MIM:278150] LPAR6 P43657 VAR_088340 p.Pro196Leu US - Hypotrichosis 8 (HYPT8) [MIM:278150] LPAR6 P43657 VAR_088341 p.Asn248Tyr LP/P - Hypotrichosis 8 (HYPT8) [MIM:278150] LPAR6 P43657 VAR_088342 p.Leu277Pro LP/P - Hypotrichosis 8 (HYPT8) [MIM:278150] LPAR6 P43657 VAR_088343 p.Cys278Tyr LP/P - Woolly hair autosomal recessive 1 with or without hypotrichosis (ARWH1) [MIM:278150] LPCAT2 Q7L5N7 VAR_027058 p.Met163Ile LB/B rs837550 - LPCAT3 Q6P1A2 VAR_050027 p.Phe63Leu LB/B rs34196984 - LPCAT3 Q6P1A2 VAR_050028 p.Ile217Thr LB/B rs1984564 - LPIN1 Q14693 VAR_013885 p.Pro610Ser LB/B rs4669781 - LPIN1 Q14693 VAR_035874 p.Gly56Glu US - A colorectal cancer sample LPIN1 Q14693 VAR_054878 p.Ser637Thr LB/B rs17852755 - LPIN2 Q92539 VAR_023817 p.Ser734Leu LP/P rs80338807 Majeed syndrome (MJDS) [MIM:609628] LPIN3 Q9BQK8 VAR_053489 p.Gln679His LB/B rs12625565 - LPL P06858 VAR_004211 p.Arg102Ser LP/P rs118204073 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004212 p.Trp113Gly LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004213 p.Trp113Arg LP/P rs118204069 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004214 p.His163Arg LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004215 p.Gly169Glu LP/P rs118204063 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004216 p.Gly181Ser LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004217 p.Asp183Gly LP/P rs118204064 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004218 p.Asp183Asn LP/P rs781614031 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004219 p.Pro184Arg LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004220 p.Ala185Thr LP/P rs748349562 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004221 p.Ser199Cys LP/P rs118204072 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004222 p.Ala203Thr LP/P rs118204056 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004223 p.Asp207Glu LP/P rs118204076 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004224 p.His210Gln LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004225 p.Gly215Glu LP/P rs118204057 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004226 p.Ser220Arg LP/P rs757546424 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004227 p.Ile221Thr LP/P rs118204061 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004228 p.Gly222Glu LP/P rs118204075 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004229 p.Asp231Glu LP/P rs118204067 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004230 p.Ile232Ser LP/P rs770601263 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004231 p.Pro234Leu LP/P rs118204060 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004232 p.Cys243Ser LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004233 p.Arg270His LP/P rs118204062 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004234 p.Ser271Thr LP/P rs118204059 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004235 p.Asp277Asn LP/P rs118204068 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004236 p.Ser278Cys LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004237 p.Ser286Gly LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004238 p.Ser286Arg LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004239 p.Asn318Ser LP/P rs268 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004240 p.Met328Thr LP/P rs1181582051 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004241 p.Leu330Pro LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004242 p.Ala361Thr LP/P rs118204071 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004243 p.Leu392Val LP/P rs118204078 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004245 p.Glu437Lys LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_004246 p.Glu437Val LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_011948 p.Asp36Asn LB/B rs1801177 - LPL P06858 VAR_011949 p.Ala288Thr LP/P rs1800011 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_011950 p.Val370Met LB/B rs298 - LPL P06858 VAR_011951 p.Thr379Ala LB/B rs300 - LPL P06858 VAR_011952 p.Ala427Thr LB/B rs5934 - LPL P06858 VAR_049819 p.His71Gln LB/B rs11542065 - LPL P06858 VAR_057914 p.Asn70Ser LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057915 p.Val96Leu LP/P rs373088068 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057916 p.Ala98Thr LP/P rs145657341 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057917 p.Thr128Ala LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057918 p.Gly132Arg LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057919 p.Gly181Val LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057920 p.Asp183His LP/P rs781614031 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057921 p.Gly186Glu LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057922 p.Glu190Gly LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057923 p.Asp201Val LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057924 p.Val208Ile LP/P rs568397156 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057925 p.His210Asp LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057926 p.Gly215Arg LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057927 p.Lys225Arg LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057928 p.Val227Ala LP/P rs528243561 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057929 p.Ile252Thr LP/P rs118204080 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057930 p.Cys266Trp LP/P rs118204082 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057931 p.Arg270Cys LP/P rs118204077 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057932 p.Leu279Arg LP/P rs35414700 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057933 p.Leu279Val LP/P rs371282890 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057934 p.Tyr289His LP/P rs1161884343 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057935 p.Phe297Leu LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057936 p.Leu303Phe LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057937 p.Cys305Arg LP/P rs773235712 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057938 p.Cys310Tyr LP/P rs1409123950 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057939 p.Leu313Pro LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057940 p.Ser325Arg LP/P rs761265900 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057941 p.Met328Arg LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057942 p.Leu330Phe LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057943 p.Ser365Phe LP/P rs546542623 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057944 p.Cys445Tyr LP/P rs118204079 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_057945 p.Glu448Lys LP/P rs149089920 Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPL P06858 VAR_077541 p.Met404Arg LP/P - Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] LPO P22079 VAR_018809 p.Thr105Ile LB/B rs8178318 - LPO P22079 VAR_018810 p.Ala244Thr LB/B rs8178338 - LPO P22079 VAR_018811 p.Arg414Gln LB/B rs8178355 - LPO P22079 VAR_018812 p.Val421Met LB/B rs2301870 - LPO P22079 VAR_018813 p.Arg514Gln LB/B rs8178401 - LPO P22079 VAR_018814 p.Ile614Thr LB/B rs8178408 - LPO P22079 VAR_018815 p.Asp700Asn LB/B rs8178412 - LPP Q93052 VAR_034070 p.Tyr346His LB/B rs7645635 - LPP Q93052 VAR_050150 p.Thr146Ala LB/B rs35417432 - LPP Q93052 VAR_050151 p.Ser259Pro LB/B rs35940579 - LPXN O60711 VAR_050152 p.Pro148Thr LB/B rs12271558 - LRAT O95237 VAR_018386 p.Ser175Arg LP/P rs104893848 Leber congenital amaurosis 14 (LCA14) [MIM:613341] LRAT O95237 VAR_063559 p.Pro173Leu LB/B rs1448665709 - LRBA P50851 VAR_022028 p.Ser2809Leu LB/B rs2290846 - LRBA P50851 VAR_035883 p.Gln2038His US - A breast cancer sample LRBA P50851 VAR_035884 p.Gly2274Arg US - A breast cancer sample LRBA P50851 VAR_035885 p.Thr2701Lys US - A breast cancer sample LRBA P50851 VAR_057605 p.Ala1090Gly LB/B rs1782360 - LRBA P50851 VAR_057606 p.Gly1230Asp LB/B rs34708681 - LRBA P50851 VAR_057607 p.Asn1677Ser LB/B rs17027133 - LRBA P50851 VAR_057608 p.Arg1997Cys LB/B rs35879351 - LRBA P50851 VAR_057609 p.Ala2704Thr LB/B rs3749574 - LRBA P50851 VAR_057610 p.Leu2713Phe LB/B rs34662958 - LRBA P50851 VAR_068690 p.Ile2657Ser LP/P rs199469663 Immunodeficiency, common variable, 8, with autoimmunity (CVID8) [MIM:614700] LRCH1 Q9Y2L9 VAR_051133 p.Ser234Pro LB/B rs842381 - LRCH1 Q9Y2L9 VAR_051134 p.Ala486Ser LB/B rs11617392 - LRCH3 Q96II8 VAR_056931 p.Pro522Leu LB/B rs36078463 - LRCH4 O75427 VAR_051135 p.Val642Met LB/B rs3197597 - LRFN2 Q9ULH4 VAR_049894 p.Asp770Asn LB/B rs3734559 - LRFN3 Q9BTN0 VAR_049895 p.Ala14Val LB/B rs34933126 - LRFN4 Q6PJG9 VAR_024499 p.Val340Ala LB/B rs3741194 - LRG1 P02750 VAR_024245 p.Pro133Ser LB/B rs966384 - LRG1 P02750 VAR_050629 p.Gly64Ser LB/B rs7251081 - LRGUK Q96M69 VAR_040063 p.Asp302Tyr LB/B rs17167553 - LRGUK Q96M69 VAR_040064 p.Ala661Val LB/B rs35149449 - LRIF1 Q5T3J3 VAR_027599 p.Ser599Pro LB/B rs2232045 - LRIF1 Q5T3J3 VAR_027600 p.Ile641Met LB/B rs2232047 - LRIF1 Q5T3J3 VAR_050703 p.Ala438Thr LB/B rs2232041 - LRIG1 Q96JA1 VAR_031581 p.Met615Val LB/B rs2306272 - LRIG1 Q96JA1 VAR_031582 p.Gly926Ser LB/B rs9877201 - LRIG1 Q96JA1 VAR_031583 p.Ala957Thr LB/B rs332373 - LRIG1 Q96JA1 VAR_031584 p.Pro1031Arg LB/B rs332374 - LRIG1 Q96JA1 VAR_031585 p.Gln1053Pro LB/B rs2279290 - LRIG1 Q96JA1 VAR_049889 p.Leu24Val LB/B rs1403626 - LRIG1 Q96JA1 VAR_049890 p.Gly993Ala LB/B rs2279289 - LRIT1 Q9P2V4 VAR_020081 p.Ser591Gly LB/B rs3814211 - LRIT1 Q9P2V4 VAR_049891 p.Leu154Met LB/B rs11200933 - LRIT1 Q9P2V4 VAR_049892 p.Pro258Gln LB/B rs7090059 - LRIT1 Q9P2V4 VAR_049893 p.Pro389Thr LB/B rs12262099 - LRIT2 A6NDA9 VAR_036935 p.Cys28Tyr LB/B rs12773843 - LRIT2 A6NDA9 VAR_036936 p.Lys179Asn LB/B rs11200927 - LRIT2 A6NDA9 VAR_036937 p.Leu220Phe LB/B rs11200925 - LRIT2 A6NDA9 VAR_036938 p.Val496Ala LB/B rs12217769 - LRIT2 A6NDA9 VAR_036939 p.Thr510Pro LB/B rs6585847 - LRIT3 Q3SXY7 VAR_036927 p.Met336Leu LB/B rs764205 - LRIT3 Q3SXY7 VAR_036928 p.Ala486Thr LB/B rs2347131 - LRIT3 Q3SXY7 VAR_036929 p.Thr503Met LB/B rs2347132 - LRIT3 Q3SXY7 VAR_061317 p.Ser175Asn LB/B rs4698797 - LRIT3 Q3SXY7 VAR_069133 p.Ser494Thr US - - LRIT3 Q3SXY7 VAR_069134 p.Cys592Tyr US rs766899767 - LRIT3 Q3SXY7 VAR_069746 p.Cys328Tyr LP/P rs376610215 Night blindness, congenital stationary, 1F (CSNB1F) [MIM:615058] LRIT3 Q3SXY7 VAR_081904 p.Trp203Leu LP/P - Night blindness, congenital stationary, 1F (CSNB1F) [MIM:615058] LRMDA Q9H2I8 VAR_033686 p.Ser153Phe LB/B rs35349706 - LRP1 Q07954 VAR_014725 p.Ala217Val LB/B rs1800127 - LRP1 Q07954 VAR_021885 p.Asn166Asp LB/B rs2306691 - LRP1 Q07954 VAR_029181 p.Val2059Leu LB/B rs2229278 - LRP1 Q07954 VAR_035994 p.Glu869Lys US rs1207947902 A colorectal cancer sample LRP1 Q07954 VAR_035995 p.Arg3760His US rs569866427 A colorectal cancer sample LRP1 Q07954 VAR_047525 p.Asp2080Asn LB/B rs34577247 - LRP1 Q07954 VAR_047526 p.Gln2900Pro LB/B rs7397167 - LRP1 Q07954 VAR_047527 p.Glu4536Gly LB/B rs17357542 - LRP1 Q07954 VAR_069388 p.His3258Gln LB/B rs1565750061 - LRP1 Q07954 VAR_077982 p.Lys1245Arg LP/P rs483353013 Keratosis pilaris atrophicans (KPA) [MIM:604093] LRP10 Q7Z4F1 VAR_018172 p.Arg48Trp LB/B rs2273837 - LRP10 Q7Z4F1 VAR_034097 p.Met139Val LB/B rs28534929 - LRP11 Q86VZ4 VAR_025537 p.Pro92Arg LB/B rs9322225 - LRP11 Q86VZ4 VAR_025538 p.Arg351His LB/B rs17854254 - LRP11 Q86VZ4 VAR_056002 p.Thr281Met LB/B rs9478945 - LRP11 Q86VZ4 VAR_056003 p.Gly442Arg LB/B rs9478144 - LRP12 Q9Y561 VAR_049766 p.Ser694Gly LB/B rs16871494 - LRP1B Q9NZR2 VAR_018328 p.Arg3157Cys LB/B rs371536401 - LRP1B Q9NZR2 VAR_049759 p.Gln48Arg LB/B rs12990449 - LRP1B Q9NZR2 VAR_049760 p.Gln3140Arg LB/B rs34488772 - LRP1B Q9NZR2 VAR_049761 p.Glu3458Lys LB/B rs1878740 - LRP1B Q9NZR2 VAR_049762 p.Gln3734Lys LB/B rs35546150 - LRP1B Q9NZR2 VAR_049763 p.Val4264Leu LB/B rs17386226 - LRP2 P98164 VAR_005421 p.Ala1287Pro LB/B - - LRP2 P98164 VAR_005422 p.Ala2872Thr LB/B rs2228171 - LRP2 P98164 VAR_005423 p.Lys4094Glu LB/B rs2075252 - LRP2 P98164 VAR_005424 p.Ile4210Leu LB/B rs4667591 - LRP2 P98164 VAR_020218 p.Ile2065Thr LB/B rs2228168 - LRP2 P98164 VAR_020219 p.Arg3305His LB/B rs3213760 - LRP2 P98164 VAR_029182 p.Asp1279Ala LB/B rs17848149 - LRP2 P98164 VAR_029183 p.Arg2012Lys LB/B rs4667596 - LRP2 P98164 VAR_029184 p.Asn2632Asp LB/B rs17848169 - LRP2 P98164 VAR_035996 p.Met4272Val US - A colorectal cancer sample LRP2 P98164 VAR_037009 p.Asn83Ser LB/B rs2229263 - LRP2 P98164 VAR_037010 p.Gly669Asp LB/B rs34291900 - LRP2 P98164 VAR_037011 p.His909Arg LB/B rs36082715 - LRP2 P98164 VAR_037012 p.His1083Gln LB/B rs2302691 - LRP2 P98164 VAR_037013 p.Tyr2522His LP/P rs80338747 Donnai-Barrow syndrome (DBS) [MIM:222448] LRP2 P98164 VAR_037014 p.Arg3011Met LB/B rs11674973 - LRP2 P98164 VAR_061294 p.Gly259Arg LB/B rs34693334 - LRP2 P98164 VAR_064727 p.Cys103Arg US - - LRP2 P98164 VAR_075534 p.Asp3779Asn US rs199583537 - LRP2 P98164 VAR_075535 p.Asp3828Gly US - - LRP3 O75074 VAR_018171 p.Val708Ala LB/B rs3745974 - LRP3 O75074 VAR_049764 p.Pro213Leu LB/B rs3745978 - LRP4 O75096 VAR_057955 p.Ile1086Val LB/B rs6485702 - LRP4 O75096 VAR_057956 p.Ser1554Gly LB/B rs2306029 - LRP4 O75096 VAR_057957 p.Arg1646Gln LB/B rs3816614 - LRP4 O75096 VAR_058290 p.Leu314Ser LB/B rs7926667 - LRP4 O75096 VAR_058291 p.Ala1203Val LB/B rs2306033 - LRP4 O75096 VAR_058292 p.Ala1238Thr LB/B rs2306031 - LRP4 O75096 VAR_063776 p.Asp137Asn LP/P rs267607222 Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] LRP4 O75096 VAR_063777 p.Cys160Tyr LP/P rs267607221 Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] LRP4 O75096 VAR_063778 p.Asp449Asn LP/P rs267607224 Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] LRP4 O75096 VAR_063779 p.Thr461Pro LP/P rs267607223 Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] LRP4 O75096 VAR_063780 p.Leu473Phe LP/P - Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] LRP4 O75096 VAR_063781 p.Asp529Asn LP/P rs267607220 Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] LRP4 O75096 VAR_063782 p.Cys1017Arg LP/P - Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] LRP4 O75096 VAR_066630 p.Arg1170Trp LP/P rs387906884 Sclerosteosis 2 (SOST2) [MIM:614305] LRP4 O75096 VAR_066631 p.Trp1186Ser LP/P rs387906883 Sclerosteosis 2 (SOST2) [MIM:614305] LRP4 O75096 VAR_073695 p.Glu1233Lys LP/P rs786205153 Myasthenic syndrome, congenital, 17 (CMS17) [MIM:616304] LRP4 O75096 VAR_073696 p.Arg1277His LP/P rs746136135 Myasthenic syndrome, congenital, 17 (CMS17) [MIM:616304] LRP5 O75197 VAR_018465 p.Thr173Met LP/P rs80358306 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_018466 p.Tyr1168His LP/P rs80358318 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_018467 p.Cys1361Gly LP/P rs80358320 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_021222 p.Arg570Gln LP/P rs80358312 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_021223 p.Arg752Gly LP/P rs121908674 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_021224 p.Glu1367Lys LP/P rs28939709 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_021225 p.Ala1525Val LB/B rs1127291 - LRP5 O75197 VAR_021806 p.Gln89Arg LB/B rs41494349 - LRP5 O75197 VAR_021807 p.Asp111Tyr LP/P - Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634] LRP5 O75197 VAR_021808 p.Gly171Arg LP/P rs121908669 Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634] LRP5 O75197 VAR_021809 p.Gly171Val LP/P rs121908668 High bone mass trait (HBM) [MIM:601884] LRP5 O75197 VAR_021810 p.Ala214Thr LP/P rs121908671 Endosteal hyperostosis, Worth type (WENHY) [MIM:144750] LRP5 O75197 VAR_021811 p.Ala214Val LP/P rs121908672 Endosteal hyperostosis, Worth type (WENHY) [MIM:144750] LRP5 O75197 VAR_021812 p.Ala242Thr LP/P rs121908670 Endosteal hyperostosis, Worth type (WENHY) [MIM:144750] LRP5 O75197 VAR_021812 p.Ala242Thr LP/P rs121908670 Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634] LRP5 O75197 VAR_021812 p.Ala242Thr LP/P rs121908670 Van Buchem disease 2 (VBCH2) [MIM:607636] LRP5 O75197 VAR_021813 p.Thr253Ile LP/P rs121908673 Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634] LRP5 O75197 VAR_021814 p.Arg494Gln LP/P rs121908664 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_021815 p.Arg570Trp LP/P rs121908665 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_021816 p.Val667Met LB/B rs4988321 - LRP5 O75197 VAR_021817 p.Ala1330Val LB/B rs3736228 - LRP5 O75197 VAR_035208 p.Val1204Leu LB/B rs11607268 - LRP5 O75197 VAR_063412 p.Met282Val US - High bone mass trait (HBM) [MIM:601884] LRP5 O75197 VAR_063941 p.Ala29Thr US - Osteoporosis (OSTEOP) [MIM:166710] LRP5 O75197 VAR_063942 p.Ala97Val LB/B rs143433231 - LRP5 O75197 VAR_063943 p.Leu145Phe LP/P rs80358305 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063944 p.Arg154Met LP/P - High bone mass trait (HBM) [MIM:601884] LRP5 O75197 VAR_063945 p.Asp203Asn LP/P rs760548029 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063946 p.Thr244Met LP/P rs397514665 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063947 p.Ser307Phe LP/P rs1219101402 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063948 p.Arg348Trp LP/P rs1320065036 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063948 p.Arg348Trp LP/P rs1320065036 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] LRP5 O75197 VAR_063949 p.Arg353Gln LP/P - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063950 p.Ser356Leu LP/P rs1158745675 Osteoporosis (OSTEOP) [MIM:166710] LRP5 O75197 VAR_063950 p.Ser356Leu LP/P rs1158745675 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063951 p.Thr390Lys LP/P - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063952 p.Ala400Glu LP/P rs201320326 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063953 p.Gly404Arg LP/P rs750791263 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063954 p.Thr409Ala LP/P rs1273567061 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063955 p.Asp434Asn US rs757888034 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063956 p.Glu441Lys LP/P rs376152274 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063957 p.Arg444Cys LP/P rs80358308 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063958 p.Ser455Leu US rs930355318 Osteoporosis (OSTEOP) [MIM:166710] LRP5 O75197 VAR_063959 p.Glu460Lys LP/P rs866606166 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063960 p.Trp478Arg LP/P rs1318906451 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063961 p.Trp504Cys LP/P rs545508982 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063962 p.Asp511Ala LP/P rs1245625202 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063963 p.Gly520Val LP/P - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063964 p.Ala522Thr LP/P rs80358309 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063965 p.Asn531Ile LP/P - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063966 p.Thr535Met LP/P rs80358310 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063967 p.Gly550Arg LP/P rs80358311 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063968 p.Gly610Arg US rs80358313 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063968 p.Gly610Arg US rs80358313 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063969 p.Phe617Cys LP/P rs80358314 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063970 p.Asp683Asn LP/P rs1470530779 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063971 p.Tyr733His LP/P rs746701187 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063972 p.Thr798Ala LP/P rs80358316 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063973 p.Arg805Trp LP/P rs765952535 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063974 p.Arg1036Gln US rs61889560 Osteoporosis (OSTEOP) [MIM:166710] LRP5 O75197 VAR_063975 p.Asp1099Tyr LP/P - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063976 p.Arg1113Cys LP/P rs377258285 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063977 p.Asn1121Asp US rs80358317 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063978 p.Cys1253Phe LP/P rs768615287 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063979 p.Gly1401Asp US - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063980 p.Ala1537Thr US rs144376510 Osteoporosis (OSTEOP) [MIM:166710] LRP5 O75197 VAR_063981 p.Thr1540Met LB/B rs141407040 - LRP5 O75197 VAR_071012 p.Ala422Thr LP/P rs774342727 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_071013 p.Leu540Pro LP/P - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_071014 p.Gln816Pro US - - LRP5 O75197 VAR_071015 p.Thr852Met US rs1398692057 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_076548 p.Asp381Asn LP/P rs1332274863 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] LRP5 O75197 VAR_076549 p.Arg624Trp LP/P rs989864153 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] LRP5 O75197 VAR_076550 p.Tyr1517Cys LP/P rs201030241 Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] LRP5 O75197 VAR_080857 p.Val454Met US rs373910016 Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875] LRP5 O75197 VAR_080858 p.Trp560Cys US rs377144001 - LRP5 O75197 VAR_080859 p.Arg1135Cys LB/B rs143396225 - LRP5 O75197 VAR_080860 p.Gln1156His US rs724159825 - LRP5 O75197 VAR_080861 p.Arg1188Trp LP/P rs141178995 Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875] LRP5 O75197 VAR_080862 p.Arg1529Ser US - Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875] LRP5 O75197 VAR_080863 p.Asp1551Asn US rs724159827 Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875] LRP5 O75197 VAR_080935 p.Lys638Glu US rs758976409 Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875] LRP5 O75197 VAR_080936 p.Val684Ala US rs1339222045 Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875] LRP5 O75197 VAR_080937 p.Arg925Cys US rs369471051 Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875] LRP5 O75197 VAR_080938 p.Thr1541Met US rs150862227 Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875] LRP5 O75197 VAR_085732 p.Trp79Arg US rs1197978360 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_085733 p.Arg142Gln US rs368198391 Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_085734 p.Leu541Pro US - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5L A4QPB2 VAR_033191 p.Thr61Met LB/B rs17616994 - LRP6 O75581 VAR_024520 p.Val1062Ile LB/B rs2302685 - LRP6 O75581 VAR_030349 p.Val483Ile LB/B rs7975614 - LRP6 O75581 VAR_030350 p.Ser817Cys LB/B rs2302686 - LRP6 O75581 VAR_034701 p.Arg611Cys LP/P rs121918313 Coronary artery disease, autosomal dominant, 2 (ADCAD2) [MIM:610947] LRP6 O75581 VAR_034702 p.Arg1401His LB/B rs34815107 - LRP6 O75581 VAR_076207 p.Ala19Val LP/P rs864309648 Tooth agenesis, selective, 7 (STHAG7) [MIM:616724] LRP6 O75581 VAR_076208 p.Arg360His LP/P rs141212743 Coronary artery disease, autosomal dominant, 2 (ADCAD2) [MIM:610947] LRP6 O75581 VAR_076209 p.Asn433Ser LP/P rs397515473 Coronary artery disease, autosomal dominant, 2 (ADCAD2) [MIM:610947] LRP6 O75581 VAR_076210 p.Arg473Gln LP/P rs397515474 Coronary artery disease, autosomal dominant, 2 (ADCAD2) [MIM:610947] LRP6 O75581 VAR_083431 p.Val1415Phe US - - LRP8 Q14114 VAR_018468 p.Asp46Glu LB/B rs3820198 - LRP8 Q14114 VAR_018469 p.Arg952Gln LB/B rs5174 - LRP8 Q14114 VAR_037624 p.Val453Met LB/B rs5180 - LRP8 Q14114 VAR_037625 p.Trp466Cys LB/B rs5181 - LRP8 Q14114 VAR_037626 p.Gln607Arg LB/B rs5172 - LRP8 Q14114 VAR_037627 p.Ile611Leu LB/B rs5170 - LRP8 Q14114 VAR_037628 p.Ser653Thr LB/B rs5171 - LRP8 Q14114 VAR_046974 p.Gln25Arg LB/B rs4926972 - LRP8 Q14114 VAR_059079 p.Arg736Gln LB/B rs5172 - LRPAP1 P30533 VAR_011821 p.Val311Met LB/B rs1800493 - LRPAP1 P30533 VAR_050660 p.Asn114Ser LB/B rs2228158 - LRPPRC P42704 VAR_018656 p.Ala354Val LP/P rs119466000 Mitochondrial complex IV deficiency, nuclear type 5 (MC4DN5) [MIM:220111] LRPPRC P42704 VAR_052935 p.Thr478Ala LB/B rs35035668 - LRR1 Q96L50 VAR_051095 p.Ile96Asn LB/B rs17121605 - LRR1 Q96L50 VAR_051096 p.Arg229Trp LB/B rs7148147 - LRRC1 Q9BTT6 VAR_019431 p.Ile193Val LB/B rs9349688 - LRRC14 Q15048 VAR_053603 p.Gly437Asp LB/B rs3735854 - LRRC15 Q8TF66 VAR_051101 p.Val264Ile LB/B rs13060627 - LRRC15 Q8TF66 VAR_051102 p.Pro286Leu LB/B rs13070515 - LRRC17 Q8N6Y2 VAR_051103 p.Thr95Ile LB/B rs34613342 - LRRC17 Q8N6Y2 VAR_051104 p.Lys119Glu LB/B rs3800939 - LRRC17 Q8N6Y2 VAR_051105 p.Gly187Ala LB/B rs1057066 - LRRC18 Q8N456 VAR_028161 p.Gly7Val LB/B rs7094610 - LRRC18 Q8N456 VAR_028162 p.Arg31His LB/B rs17772611 - LRRC2 Q9BYS8 VAR_051140 p.Val32Ala LB/B rs28687398 - LRRC2 Q9BYS8 VAR_051141 p.Thr83Ala LB/B rs17286758 - LRRC2 Q9BYS8 VAR_051142 p.Ala145Glu LB/B rs17078944 - LRRC23 Q53EV4 VAR_051106 p.Asn65His LB/B rs2071072 - LRRC23 Q53EV4 VAR_051107 p.Arg124Leu LB/B rs2071073 - LRRC23 Q53EV4 VAR_051108 p.Val317Glu LB/B rs1057077 - LRRC25 Q8N386 VAR_051109 p.Pro294Ser LB/B rs6512265 - LRRC25 Q8N386 VAR_061677 p.Pro234Thr LB/B rs34439430 - LRRC27 Q9C0I9 VAR_051110 p.Arg195Cys LB/B rs2474329 - LRRC28 Q86X40 VAR_034084 p.Arg168His LB/B rs11857384 - LRRC31 Q6UY01 VAR_034085 p.Leu322Phe LB/B rs35923425 - LRRC31 Q6UY01 VAR_051111 p.Ala324Glu LB/B rs3732452 - LRRC31 Q6UY01 VAR_051112 p.Leu378Phe LB/B rs35923425 - LRRC32 Q14392 VAR_051113 p.Leu223Val LB/B rs35033061 - LRRC32 Q14392 VAR_051114 p.Gly311Ala LB/B rs35130967 - LRRC34 Q8IZ02 VAR_034086 p.Leu286Ile LB/B rs10936600 - LRRC34 Q8IZ02 VAR_051115 p.Pro49Leu LB/B rs9820986 - LRRC34 Q8IZ02 VAR_051116 p.Met405Ile LB/B rs9872760 - LRRC36 Q1X8D7 VAR_047015 p.Arg222Pro LB/B rs9922085 - LRRC36 Q1X8D7 VAR_047016 p.Gly509Ser LB/B rs8052655 - LRRC36 Q1X8D7 VAR_047017 p.Ser744Gly LB/B rs16957415 - LRRC37A2 A6NM11 VAR_070799 p.Phe1141Leu LB/B rs1863115 - LRRC37A2 A6NM11 VAR_070800 p.Ile1281Thr LB/B rs62073349 - LRRC37A2 A6NM11 VAR_070801 p.Asn1385Lys LB/B rs1969205 - LRRC37A2 A6NM11 VAR_070802 p.His1423Pro LB/B rs201103889 - LRRC37A3 O60309 VAR_051088 p.Lys1215Glu LB/B rs9893710 - LRRC37A3 O60309 VAR_061672 p.Gly1590Ala LB/B rs28532307 - LRRC38 Q5VT99 VAR_037504 p.Leu276Phe LB/B rs2940315 - LRRC38 Q5VT99 VAR_037505 p.Lys292Glu LB/B rs3013105 - LRRC39 Q96DD0 VAR_034087 p.Ile121Leu LB/B rs34920283 - LRRC4 Q9HBW1 VAR_035519 p.Thr579Ala US - A colorectal cancer sample LRRC40 Q9H9A6 VAR_034088 p.Gln53Pro LB/B rs270495 - LRRC40 Q9H9A6 VAR_034089 p.Ile500Val LB/B rs3180401 - LRRC41 Q15345 VAR_051117 p.Val609Ile LB/B rs11542623 - LRRC43 Q8N309 VAR_037338 p.Gln256Lys LB/B rs11060094 - LRRC47 Q8N1G4 VAR_035471 p.Glu193Asp US - A colorectal cancer sample LRRC47 Q8N1G4 VAR_051118 p.Pro545Leu LB/B rs11547614 - LRRC47 Q8N1G4 VAR_051119 p.Val581Ile LB/B rs11547615 - LRRC52 Q8N7C0 VAR_051122 p.Asp209Glu LB/B rs17407838 - LRRC56 Q8IYG6 VAR_025782 p.Arg507Gly LB/B rs10902170 - LRRC56 Q8IYG6 VAR_025783 p.Asp523His LB/B rs10902171 - LRRC56 Q8IYG6 VAR_034090 p.Arg12Gln LB/B rs2277269 - LRRC56 Q8IYG6 VAR_059694 p.Arg300His LB/B rs4963198 - LRRC56 Q8IYG6 VAR_061678 p.Arg467Gln LB/B rs12793222 - LRRC56 Q8IYG6 VAR_081775 p.Leu140Pro LP/P rs1564805039 Ciliary dyskinesia, primary, 39 (CILD39) [MIM:618254] LRRC61 Q9BV99 VAR_051123 p.Asn143Ser LB/B rs3735169 - LRRC63 Q05C16 VAR_039236 p.Met137Val LB/B rs7338697 - LRRC63 Q05C16 VAR_039237 p.Met206Val LB/B rs6561303 - LRRC63 Q05C16 VAR_039238 p.Lys281Arg LB/B rs12865423 - LRRC63 Q05C16 VAR_039239 p.Thr282Ala LB/B rs12865424 - LRRC66 Q68CR7 VAR_051124 p.Gly342Ala LB/B rs17081784 - LRRC69 Q6ZNQ3 VAR_043481 p.Thr64Ile LB/B rs11785003 - LRRC7 Q96NW7 VAR_035715 p.Leu235Met US - A breast cancer sample LRRC7 Q96NW7 VAR_049727 p.His1054Tyr LB/B rs12069888 - LRRC71 Q8N4P6 VAR_031773 p.Arg483His LB/B rs12119908 - LRRC71 Q8N4P6 VAR_031774 p.Ser503Ala LB/B rs822431 - LRRC71 Q8N4P6 VAR_059593 p.Ala533Thr LB/B rs11264585 - LRRC74B Q6ZQY2 VAR_038923 p.Gly3Arg LB/B rs12170538 - LRRC74B Q6ZQY2 VAR_038924 p.Arg77Cys LB/B rs9620774 - LRRC75B Q2VPJ9 VAR_051125 p.Ser140Arg LB/B rs743370 - LRRC8A Q8IWT6 VAR_084194 p.Arg545His US rs769167142 - LRRC8B Q6P9F7 VAR_025275 p.Gln419Lys LB/B rs17855025 - LRRC8B Q6P9F7 VAR_051126 p.Asp288Asn LB/B rs17131746 - LRRC8B Q6P9F7 VAR_051127 p.Arg469His LB/B rs3795832 - LRRC8B Q6P9F7 VAR_051128 p.Asn689Ser LB/B rs12747447 - LRRC8C Q8TDW0 VAR_051129 p.Asp205Gly LB/B rs474536 - LRRC8C Q8TDW0 VAR_051130 p.Asn468Ser LB/B rs12032393 - LRRC8C Q8TDW0 VAR_051131 p.Met800Ile LB/B rs12036569 - LRRC8D Q7L1W4 VAR_051132 p.Ser371Tyr LB/B rs11552246 - LRRC8E Q6NSJ5 VAR_056930 p.Val433Ile LB/B rs36038711 - LRRC8E Q6NSJ5 VAR_059695 p.Glu181Gly LB/B rs2042919 - LRRC8E Q6NSJ5 VAR_059696 p.Met190Thr LB/B rs2115108 - LRRC8E Q6NSJ5 VAR_060437 p.Pro160Leu LB/B rs3745377 - LRRCC1 Q9C099 VAR_043584 p.His69Gln LB/B rs16913589 - LRRCC1 Q9C099 VAR_043585 p.Thr210Ala LB/B rs3736038 - LRRCC1 Q9C099 VAR_043586 p.Lys613Asn LB/B rs6985225 - LRRFIP1 Q32MZ4 VAR_027291 p.Gln275Arg LB/B rs3213869 - LRRFIP1 Q32MZ4 VAR_027292 p.Asn418Ser LB/B rs2001301 - LRRFIP1 Q32MZ4 VAR_027293 p.Glu609Lys LB/B rs761312145 - LRRFIP1 Q32MZ4 VAR_027294 p.Pro645Leu LB/B rs3739040 - LRRFIP1 Q32MZ4 VAR_027295 p.Arg779Gly LB/B rs3739039 - LRRFIP1 Q32MZ4 VAR_027296 p.His783Asp LB/B rs3739038 - LRRFIP1 Q32MZ4 VAR_036037 p.Ser68Cys US - A breast cancer sample LRRFIP1 Q32MZ4 VAR_056111 p.Lys633Glu LB/B rs3739041 - LRRFIP2 Q9Y608 VAR_050001 p.Lys143Glu LB/B rs34902788 - LRRIQ1 Q96JM4 VAR_037672 p.Ile29Asn LB/B rs7312075 - LRRIQ1 Q96JM4 VAR_037673 p.Cys83Tyr LB/B rs3765044 - LRRIQ1 Q96JM4 VAR_037674 p.Ala912Thr LB/B rs17012533 - LRRIQ3 A6PVS8 VAR_037154 p.Phe35Cys LB/B rs2274904 - LRRIQ3 A6PVS8 VAR_037155 p.Met129Ile LB/B rs17094900 - LRRIQ3 A6PVS8 VAR_037156 p.His156Tyr LB/B rs17591320 - LRRIQ3 A6PVS8 VAR_051136 p.Ala255Thr LB/B rs1340472 - LRRIQ3 A6PVS8 VAR_051137 p.Ile398Val LB/B rs17094779 - LRRIQ3 A6PVS8 VAR_051138 p.Glu434Lys LB/B rs17094777 - LRRIQ3 A6PVS8 VAR_051139 p.Leu483Phe LB/B rs17094774 - LRRIQ4 A6NIV6 VAR_042953 p.Lys159Glu LB/B rs16854411 - LRRK1 Q38SD2 VAR_040674 p.Ala1803Thr LB/B - - LRRK1 Q38SD2 VAR_040675 p.Leu1824Phe LB/B - - LRRK1 Q38SD2 VAR_040676 p.Ser1847Asn LB/B - - LRRK1 Q38SD2 VAR_040677 p.Asp1927Gly LB/B - - LRRK2 Q5S007 VAR_024931 p.Arg50His LB/B rs2256408 - LRRK2 Q5S007 VAR_024932 p.Leu119Pro LB/B rs33995463 - LRRK2 Q5S007 VAR_024933 p.Asn551Lys LB/B rs7308720 - LRRK2 Q5S007 VAR_024934 p.Ile723Val LB/B rs10878307 - LRRK2 Q5S007 VAR_024935 p.Arg793Met US rs35173587 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024936 p.Gln930Arg US rs281865045 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024937 p.Asp944Tyr LB/B rs17519916 - LRRK2 Q5S007 VAR_024938 p.Arg1067Gln LP/P rs111341148 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024939 p.Ser1096Cys US rs76535406 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024940 p.Ile1122Val LP/P rs34805604 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024941 p.Ser1228Thr LP/P rs60185966 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024942 p.Pro1262Ala LB/B rs4640000 - LRRK2 Q5S007 VAR_024943 p.Ile1371Val US rs17466213 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024944 p.Arg1398His LB/B rs7133914 - LRRK2 Q5S007 VAR_024945 p.Arg1441Cys LP/P rs33939927 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024946 p.Arg1441Gly LP/P rs33939927 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024947 p.Arg1441His LP/P rs34995376 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024948 p.Arg1514Gln US rs35507033 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024949 p.Pro1542Ser US rs33958906 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024950 p.Val1598Glu US rs721710 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024951 p.Arg1628Pro US rs33949390 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024952 p.Met1646Thr LB/B rs35303786 - LRRK2 Q5S007 VAR_024953 p.Ser1647Thr LB/B rs11564148 - LRRK2 Q5S007 VAR_024954 p.Tyr1699Cys LP/P rs35801418 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024955 p.Met1869Thr US rs35602796 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024956 p.Arg1941His LP/P rs77428810 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024957 p.Ile2012Thr US rs34015634 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024958 p.Gly2019Ser LP/P rs34637584 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024959 p.Ile2020Thr LP/P rs35870237 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024960 p.Asn2081Asp LB/B rs33995883 - LRRK2 Q5S007 VAR_024961 p.Pro2119Leu LB/B rs12423862 - LRRK2 Q5S007 VAR_024962 p.Asn2261Ile LB/B rs12581902 - LRRK2 Q5S007 VAR_024963 p.Thr2356Ile LP/P rs113511708 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024964 p.Gly2385Arg LP/P rs34778348 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024965 p.Met2397Thr LB/B rs3761863 - LRRK2 Q5S007 VAR_033903 p.Ala419Val LB/B rs34594498 - LRRK2 Q5S007 VAR_033904 p.Pro755Leu LB/B rs34410987 - LRRK2 Q5S007 VAR_040678 p.Arg1550Gln US rs200212150 An ovarian mucinous carcinoma sample LRRK2 Q5S007 VAR_040679 p.Arg1723Pro US - An ovarian serous carcinoma sample LRRK2 Q5S007 VAR_047022 p.Asp1375Glu LB/B rs28365226 - LRRK2 Q5S007 VAR_054740 p.Cys228Ser LB/B rs56108242 - LRRK2 Q5S007 VAR_054741 p.Met712Val LP/P rs199566791 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_054742 p.Ala716Val LB/B rs281865043 - LRRK2 Q5S007 VAR_054743 p.Lys871Glu LB/B rs281865044 - LRRK2 Q5S007 VAR_054744 p.Arg1728His LP/P rs145364431 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_054745 p.Arg1728Leu LP/P rs145364431 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_054746 p.Leu1870Phe LB/B rs281865053 - LRRK2 Q5S007 VAR_054747 p.Thr2141Met LP/P rs111691891 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_054748 p.Arg2143His LP/P rs201271001 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_054749 p.Glu2395Lys LB/B rs78964014 - LRRK2 Q5S007 VAR_054750 p.Leu2466His LP/P rs281865057 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_064728 p.Lys1359Ile US - - LRRK2 Q5S007 VAR_071101 p.Lys1906Met US - - LRRK2 Q5S007 VAR_082047 p.Thr2031Ser LP/P rs78029637 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_082048 p.Asp2175His LP/P rs72547981 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_082049 p.Tyr2189Cys LP/P rs35658131 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_082050 p.Val2390Met LP/P rs79546190 Parkinson disease 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_082051 p.Leu2439Ile LP/P rs72547983 Parkinson disease 8 (PARK8) [MIM:607060] LRRN1 Q6UXK5 VAR_049896 p.Leu395Val LB/B rs35362954 - LRRN1 Q6UXK5 VAR_049897 p.Thr702Pro LB/B rs34611357 - LRRN2 O75325 VAR_021921 p.Pro7Leu LB/B rs3789044 - LRRN2 O75325 VAR_021922 p.Leu518Val LB/B rs3747631 - LRRN2 O75325 VAR_049898 p.Ala19Thr LB/B rs36012907 - LRRN2 O75325 VAR_049899 p.Val659Ala LB/B rs34771052 - LRRN2 O75325 VAR_049900 p.Pro692Ser LB/B rs11588857 - LRRN3 Q9H3W5 VAR_049901 p.Asp24Gly LB/B rs9942557 - LRRN4 Q8WUT4 VAR_025548 p.Pro138Leu LB/B rs6107751 - LRRN4 Q8WUT4 VAR_051143 p.Thr141Ala LB/B rs1884643 - LRRTM1 Q86UE6 VAR_022681 p.Asn330Ser LB/B rs6733871 - LRSAM1 Q6UWE0 VAR_021051 p.Asn318Asp LB/B rs1539567 - LRSAM1 Q6UWE0 VAR_077460 p.Cys694Arg LP/P rs759312530 Charcot-Marie-Tooth disease, axonal, 2P (CMT2P) [MIM:614436] LRSAM1 Q6UWE0 VAR_077461 p.Cys694Tyr US rs886041051 Charcot-Marie-Tooth disease, axonal, 2P (CMT2P) [MIM:614436] LRTM1 Q9HBL6 VAR_051144 p.Glu43Lys LB/B rs3806633 - LRTM1 Q9HBL6 VAR_051145 p.Leu117Val LB/B rs35540470 - LRTM2 Q8N967 VAR_061679 p.Asp161Asn LB/B rs41276696 - LSAMP Q13449 VAR_083713 p.Lys225Glu LB/B - - LSG1 Q9H089 VAR_039826 p.Leu92Pro LB/B rs34423045 - LSG1 Q9H089 VAR_039827 p.Lys267Glu LB/B rs1675953 - LSM11 P83369 VAR_085527 p.Gly211Ser LP/P - Aicardi-Goutieres syndrome 8 (AGS8) [MIM:619486] LSM12 Q3MHD2 VAR_035166 p.Pro77Arg LB/B rs17854322 - LSM12 Q3MHD2 VAR_062209 p.Val173Leu LB/B rs59168537 - LSM14A Q8ND56 VAR_022884 p.Arg448Gln LB/B rs2274896 - LSM14A Q8ND56 VAR_057532 p.Arg238Gln LB/B rs36006556 - LSP1 P33241 VAR_011867 p.Ala100Thr LB/B rs621679 - LSP1 P33241 VAR_011868 p.Gln229Lys LB/B rs1803928 - LSP1 P33241 VAR_061680 p.Gln108Leu LB/B rs11545725 - LSR Q86X29 VAR_049902 p.Ser363Asn LB/B rs34259399 - LSR Q86X29 VAR_086706 p.Glu235Gly US - - LSS P48449 VAR_021522 p.Leu642Val LB/B rs2254524 - LSS P48449 VAR_024648 p.Arg175Gln LB/B rs2839158 - LSS P48449 VAR_052057 p.His310Arg LB/B rs34115287 - LSS P48449 VAR_052058 p.Arg614Trp LB/B rs35785446 - LSS P48449 VAR_052059 p.Pro688Leu LB/B rs17293705 - LSS P48449 VAR_075664 p.Trp581Arg LP/P rs864622780 Cataract 44 (CTRCT44) [MIM:616509] LSS P48449 VAR_075665 p.Gly588Ser LP/P rs561449819 Cataract 44 (CTRCT44) [MIM:616509] LSS P48449 VAR_081921 p.Leu102Val LP/P - Hypotrichosis 14 (HYPT14) [MIM:618275] LSS P48449 VAR_081923 p.Asn209Tyr LP/P rs754230211 Alopecia-intellectual disability syndrome 4 (APMR4) [MIM:618840] LSS P48449 VAR_081924 p.Leu248Pro LP/P rs1260995701 Hypotrichosis 14 (HYPT14) [MIM:618275] LSS P48449 VAR_081925 p.Phe391Ser LP/P rs1249530918 Hypotrichosis 14 (HYPT14) [MIM:618275] LSS P48449 VAR_084019 p.Gly12Asp US - Alopecia-intellectual disability syndrome 4 (APMR4) [MIM:618840] LSS P48449 VAR_084020 p.Tyr14Cys US - Alopecia-intellectual disability syndrome 4 (APMR4) [MIM:618840] LSS P48449 VAR_084021 p.Arg260Pro US - Alopecia-intellectual disability syndrome 4 (APMR4) [MIM:618840] LSS P48449 VAR_084022 p.Tyr286Cys US - Alopecia-intellectual disability syndrome 4 (APMR4) [MIM:618840] LSS P48449 VAR_084023 p.Ile342Ser US - Cataract 44 (CTRCT44) [MIM:616509] LSS P48449 VAR_084024 p.Asn516Ser US - Alopecia-intellectual disability syndrome 4 (APMR4) [MIM:618840] LSS P48449 VAR_084026 p.Trp629Cys US - Cataract 44 (CTRCT44) [MIM:616509] LSS P48449 VAR_084027 p.Thr652Ile US - Alopecia-intellectual disability syndrome 4 (APMR4) [MIM:618840] LSS P48449 VAR_084028 p.Thr705Lys US - Alopecia-intellectual disability syndrome 4 (APMR4) [MIM:618840] LTA P01374 VAR_007511 p.Thr60Asn LB/B rs1041981 - LTA P01374 VAR_007512 p.Thr125Pro LB/B - - LTA P01374 VAR_013023 p.Cys13Arg LB/B rs2229094 - LTA P01374 VAR_013024 p.His51Pro LB/B rs2229092 - LTA4H P09960 VAR_051570 p.Tyr131His LB/B rs45630737 - LTB Q06643 VAR_013025 p.Gly70Glu LB/B rs3093554 - LTB Q06643 VAR_013026 p.Ala111Pro LB/B rs3093555 - LTB Q06643 VAR_016331 p.Ser84Arg LB/B rs4647186 - LTB Q06643 VAR_016332 p.Leu87Phe LB/B rs4647187 - LTB Q06643 VAR_029145 p.Ala122Asp LB/B rs2229699 - LTB4R Q15722 VAR_060679 p.Leu346Phe LB/B rs17849864 - LTBP2 Q14767 VAR_055752 p.Pro319Gln LB/B rs2304707 - LTBP2 Q14767 VAR_059270 p.Arg37Met LB/B rs934996 - LTBP2 Q14767 VAR_060337 p.Pro591Ser LB/B rs2196862 - LTBP2 Q14767 VAR_068647 p.Val1177Met LP/P rs137854856 Weill-Marchesani syndrome 3 (WMS3) [MIM:614819] LTBP3 Q9NS15 VAR_080565 p.Ser696Cys US rs1554974135 Geleophysic dysplasia 3 (GPHYSD3) [MIM:617809] LTBP4 Q8N2S1 VAR_037119 p.Val194Ile LB/B rs2303729 - LTBP4 Q8N2S1 VAR_037120 p.Arg635Gly LB/B rs33937741 - LTBP4 Q8N2S1 VAR_037121 p.Pro679Ala LB/B rs34299942 - LTBP4 Q8N2S1 VAR_037122 p.Thr787Ala LB/B rs1131620 - LTBP4 Q8N2S1 VAR_037123 p.Thr820Ala LB/B rs1051303 - LTBP4 Q8N2S1 VAR_037124 p.Thr1141Met LB/B rs10880 - LTBP4 Q8N2S1 VAR_064153 p.Cys311Gly LP/P rs267607229 Urban-Rifkin-Davis syndrome (URDS) [MIM:613177] LTBR P36941 VAR_052346 p.Val274Ile LB/B rs35681405 - LTC4S Q16873 VAR_042736 p.Arg142Gln LB/B rs11541078 - LTF P02788 VAR_013504 p.Ala29Thr LB/B rs1126477 - LTF P02788 VAR_013505 p.Lys47Arg LB/B rs1126478 - LTF P02788 VAR_013506 p.Ile148Thr LB/B rs1126479 - LTF P02788 VAR_013507 p.Gly422Cys LB/B rs1042055 - LTF P02788 VAR_013508 p.Glu579Asp LB/B rs2073495 - LTK P29376 VAR_031569 p.Arg42Gln LB/B rs2305030 - LTK P29376 VAR_046106 p.Cys384Arg LB/B rs55683312 - LTK P29376 VAR_046107 p.Asp535Asn LB/B rs35932273 - LTK P29376 VAR_046108 p.Arg569Ser LB/B rs148513655 - LTK P29376 VAR_046109 p.Arg673Gln LB/B rs55876255 - LTK P29376 VAR_046110 p.Pro745Ser LB/B rs55900837 - LTK P29376 VAR_046111 p.Pro838Ser LB/B rs56367146 - LTK P29376 VAR_065465 p.Glu763Lys LB/B rs76282169 - LTN1 O94822 VAR_020957 p.Leu403Ser LB/B rs2254796 - LTN1 O94822 VAR_057218 p.Ala500Val LB/B rs16983580 - LTN1 O94822 VAR_057219 p.Gly565Cys LB/B rs34191159 - LTN1 O94822 VAR_057220 p.Val761Ile LB/B rs34635840 - LTO1 Q8WV07 VAR_062231 p.Gly3Ser LB/B rs56107468 - LTV1 Q96GA3 VAR_088086 p.Asn168Ser US rs932818172 Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) [MIM:620199] LUC7L2 Q9Y383 VAR_034067 p.Asp361Glu LB/B rs3757435 - LUM P51884 VAR_065763 p.Leu199Pro LB/B rs147975710 - LURAP1L Q8IV03 VAR_028155 p.Ser59Gly LB/B rs3750501 - LUZP1 Q86V48 VAR_026283 p.Gly458Ser LB/B rs477830 - LUZP1 Q86V48 VAR_026284 p.Gln461Lys LB/B rs3765407 - LUZP1 Q86V48 VAR_026285 p.Asp868Asn LB/B rs10799790 - LUZP1 Q86V48 VAR_056932 p.Ser317Ala LB/B rs12091554 - LUZP1 Q86V48 VAR_056933 p.Thr491Ile LB/B rs35917050 - LUZP1 Q86V48 VAR_056934 p.Ser1034Asn LB/B rs12066671 - LUZP2 Q86TE4 VAR_038165 p.Glu308Gln LB/B rs7930185 - LUZP4 Q9P127 VAR_051146 p.Pro14Ser LB/B rs10482480 - LUZP4 Q9P127 VAR_051147 p.Thr306Ala LB/B rs35314601 - LVRN Q6Q4G3 VAR_027059 p.Val640Phe LB/B rs17138632 - LVRN Q6Q4G3 VAR_027060 p.Leu689Phe LB/B rs10078759 - LVRN Q6Q4G3 VAR_027061 p.Val936Ile LB/B rs17138681 - LXN Q9BS40 VAR_019117 p.His53Arg LB/B rs8455 - LXN Q9BS40 VAR_062139 p.Thr134Met LB/B rs59718588 - LY6D Q14210 VAR_038712 p.Ala10Thr LB/B rs2572925 - LY6G5B Q8NDX9 VAR_038842 p.Asp102Asn LB/B rs805267 - LY6G5B Q8NDX9 VAR_038843 p.Ser131Tyr LB/B rs11758242 - LY6G5B Q8NDX9 VAR_038844 p.Arg176Cys LB/B rs9267532 - LY6G6C O95867 VAR_039541 p.Leu63Met LB/B rs13214568 - LY6G6D O95868 VAR_039564 p.Leu9Val LB/B rs3749952 - LY6G6D O95868 VAR_039565 p.Ser34Thr LB/B rs9267550 - LY6G6F Q5SQ64 VAR_038908 p.Pro34Gln LB/B rs17200983 - LY6G6F Q5SQ64 VAR_038909 p.Pro39Ser LB/B rs805295 - LY6G6F Q5SQ64 VAR_038910 p.Ala107Thr LB/B rs9267547 - LY6G6F Q5SQ64 VAR_038911 p.Arg167Lys LB/B rs2242653 - LY75 O60449 VAR_024522 p.Asp692Asn LB/B rs1397706 - LY75 O60449 VAR_027824 p.Glu268Asp LB/B rs2271381 - LY75 O60449 VAR_027825 p.Lys486Met LB/B rs2729709 - LY75 O60449 VAR_027826 p.Asp807Glu LB/B rs3951216 - LY75 O60449 VAR_027827 p.Asp884Ala LB/B rs3815875 - LY75 O60449 VAR_027828 p.Thr1202Ser LB/B rs2303549 - LY75 O60449 VAR_027829 p.Lys1321Asn LB/B rs12692566 - LY75 O60449 VAR_027830 p.Lys1347Arg LB/B rs17827158 - LY75 O60449 VAR_027831 p.Tyr1391His LB/B rs2059696 - LY75 O60449 VAR_056156 p.Trp20Arg LB/B rs35284483 - LY75 O60449 VAR_056157 p.Val666Ala LB/B rs34020639 - LY75 O60449 VAR_056158 p.Thr1393Ile LB/B rs35941588 - LY86 O95711 VAR_014539 p.Met160Val LB/B rs1802323 - LY86 O95711 VAR_024531 p.Ser93Pro LB/B rs5743649 - LY86 O95711 VAR_050029 p.Tyr121Cys LB/B rs5743651 - LY9 Q9HBG7 VAR_033612 p.Met602Val LB/B rs509749 - LY96 Q9Y6Y9 VAR_024532 p.Pro157Ser LB/B rs11466004 - LY96 Q9Y6Y9 VAR_050030 p.Arg56Gly LB/B rs6472812 - LYAR Q9NX58 VAR_023080 p.Asp151Tyr LB/B rs2272739 - LYAR Q9NX58 VAR_023081 p.Arg265His LB/B rs7376390 - LYN P07948 VAR_041737 p.Asp385Tyr US - A breast pleomorphic lobular carcinoma sample LYN P07948 VAR_088621 p.Tyr508Phe LP/P - Autoinflammatory disease, systemic, with vasculitis (SAIDV) [MIM:620376] LYN P07948 VAR_088622 p.Tyr508His LP/P - Autoinflammatory disease, systemic, with vasculitis (SAIDV) [MIM:620376] LYPD2 Q6UXB3 VAR_052701 p.Arg5Gln LB/B rs11778314 - LYPD2 Q6UXB3 VAR_052702 p.Ala7Val LB/B rs11775636 - LYPD4 Q6UWN0 VAR_052703 p.Thr184Ser LB/B rs35476281 - LYPD5 Q6UWN5 VAR_052704 p.Pro47Ala LB/B rs114779742 - LYPD5 Q6UWN5 VAR_059885 p.Ala90Pro LB/B rs11547806 - LYPD5 Q6UWN5 VAR_059886 p.Asn167Ser LB/B rs349053 - LYPLA1 O75608 VAR_060991 p.Pro153Ser LB/B rs11549448 - LYPLAL1 Q5VWZ2 VAR_025607 p.Ile131Met LB/B rs940570 - LYPLAL1 Q5VWZ2 VAR_060992 p.Leu197Val LB/B rs34201999 - LYRM2 Q9NU23 VAR_034099 p.Lys46Glu LB/B rs34012596 - LYRM2 Q9NU23 VAR_050417 p.Arg34Trp LB/B rs11553069 - LYRM2 Q9NU23 VAR_050418 p.Thr60Pro LB/B rs1055889 - LYRM4 Q9HD34 VAR_024551 p.Ser11Ala LB/B rs2224391 - LYRM4 Q9HD34 VAR_070943 p.Arg68Leu LP/P rs587777218 Combined oxidative phosphorylation deficiency 19 (COXPD19) [MIM:615595] LYRM7 Q5U5X0 VAR_071187 p.Asp25Asn LP/P rs587777433 Mitochondrial complex III deficiency, nuclear type 8 (MC3DN8) [MIM:615838] LYSET Q8N6I4 VAR_085583 p.Arg39Trp LP/P - Dysostosis multiplex, Ain-Naz type (DMAN) [MIM:619345] LYSMD2 Q8IV50 VAR_027198 p.Ile107Val LB/B rs3751593 - LYSMD2 Q8IV50 VAR_027199 p.Ser164Phe LB/B rs7168775 - LYSMD4 Q5XG99 VAR_027200 p.Ala157Val LB/B rs8041089 - LYSMD4 Q5XG99 VAR_027201 p.Ala161Val LB/B rs8041078 - LYSMD4 Q5XG99 VAR_027202 p.Ala180Gly LB/B rs2061007 - LYST Q99698 VAR_013556 p.Arg1563His LP/P rs80338657 Chediak-Higashi syndrome (CHS) [MIM:214500] LYST Q99698 VAR_013557 p.Val1999Asp LP/P rs28942077 Chediak-Higashi syndrome (CHS) [MIM:214500] LYST Q99698 VAR_022029 p.His123Arg LB/B rs3768067 - LYST Q99698 VAR_024699 p.Leu192Val LB/B rs7524261 - LYST Q99698 VAR_053404 p.Glu702Gly LB/B rs1063129 - LYST Q99698 VAR_053405 p.Ser1017Asn LB/B rs10465613 - LYST Q99698 VAR_053406 p.Gln1949His LB/B rs6665568 - LYST Q99698 VAR_053407 p.Phe2598Tyr LB/B rs34642241 - LYST Q99698 VAR_053408 p.Gly2804Asp LB/B rs35333195 - LYST Q99698 VAR_053409 p.Val2936Ile LB/B rs2753327 - LYST Q99698 VAR_060040 p.Thr2116Met LB/B rs7541041 - LYST Q99698 VAR_071512 p.Phe1397Val LP/P - Chediak-Higashi syndrome (CHS) [MIM:214500] LYST Q99698 VAR_083516 p.Ile1907Val LP/P rs370441301 Chediak-Higashi syndrome (CHS) [MIM:214500] LYVE1 Q9Y5Y7 VAR_027763 p.Trp116Arg LB/B rs17852369 - LYVE1 Q9Y5Y7 VAR_027764 p.Thr214Ile LB/B rs16907980 - LYVE1 Q9Y5Y7 VAR_027765 p.Val315Met LB/B rs7948666 - LYZ P61626 VAR_004280 p.Ile74Thr LP/P rs121913547 Amyloidosis 8 (AMYL8) [MIM:105200] LYZ P61626 VAR_004281 p.Asp85His LP/P rs121913548 Amyloidosis 8 (AMYL8) [MIM:105200] LYZ P61626 VAR_012050 p.Thr88Asn LB/B rs1800973 - LYZL1 Q6UWQ5 VAR_026817 p.Gln62Pro LB/B rs3818551 - LYZL2 Q7Z4W2 VAR_026818 p.Asp144Gly LB/B rs1054570 - LYZL6 O75951 VAR_026819 p.Phe139Ser LB/B rs9754 - LZIC Q8WZA0 VAR_053371 p.Gly104Asp LB/B rs2304778 - LZTFL1 Q9NQ48 VAR_038877 p.Lys152Glu LB/B rs17855512 - LZTFL1 Q9NQ48 VAR_038878 p.Asp246Asn LB/B rs1129183 - LZTFL1 Q9NQ48 VAR_038879 p.Gln251Arg LB/B rs17852322 - LZTFL1 Q9NQ48 VAR_070104 p.Leu87Pro LP/P rs515726135 Bardet-Biedl syndrome 17 (BBS17) [MIM:615994] LZTR1 Q8N653 VAR_071145 p.Ser122Leu LP/P rs587777177 Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_071146 p.Gly404Arg LP/P rs1470449160 Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_071147 p.Val456Gly LP/P - Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_071148 p.Arg466Gln LP/P rs587777180 Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_071149 p.Pro520Leu LP/P rs1569157089 Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_071150 p.Arg688Cys LP/P rs587777178 Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_071151 p.Ser813Ile LP/P - Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_075657 p.Tyr119Cys LP/P - Noonan syndrome 10 (NS10) [MIM:616564] LZTR1 Q8N653 VAR_075658 p.Ser247Asn LP/P rs797045166 Noonan syndrome 10 (NS10) [MIM:616564] LZTR1 Q8N653 VAR_075659 p.Gly248Arg LP/P rs869320686 Glioma (GLM) [MIM:137800] LZTR1 Q8N653 VAR_075659 p.Gly248Arg LP/P rs869320686 Noonan syndrome 10 (NS10) [MIM:616564] LZTR1 Q8N653 VAR_075660 p.Arg284Cys LP/P rs797045165 Noonan syndrome 10 (NS10) [MIM:616564] LZTR1 Q8N653 VAR_075660 p.Arg284Cys LP/P rs797045165 Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_075661 p.His287Tyr LP/P - Noonan syndrome 10 (NS10) [MIM:616564] LZTR1 Q8N653 VAR_075662 p.Phe447Leu LB/B rs201016956 - LZTR1 Q8N653 VAR_075663 p.Ile647Val LB/B rs148916790 - LZTR1 Q8N653 VAR_081292 p.His71Arg US - Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_081294 p.Trp105Arg LP/P - Glioma (GLM) [MIM:137800] LZTR1 Q8N653 VAR_081295 p.His121Asp US rs1569154492 Noonan syndrome 2 (NS2) [MIM:605275] LZTR1 Q8N653 VAR_081297 p.Asn143Ser US - Noonan syndrome 10 (NS10) [MIM:616564] LZTR1 Q8N653 VAR_081298 p.Arg170Gln LP/P rs781431741 Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_081299 p.Arg170Trp LP/P rs757502214 Noonan syndrome 2 (NS2) [MIM:605275] LZTR1 Q8N653 VAR_081300 p.Leu187Arg LP/P - Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_081301 p.Arg198Gly LP/P - Glioma (GLM) [MIM:137800] LZTR1 Q8N653 VAR_081302 p.Met202Arg LP/P - Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_081303 p.Ile205Thr US rs1287917092 Noonan syndrome 2 (NS2) [MIM:605275] LZTR1 Q8N653 VAR_081305 p.Glu217Ala US - Noonan syndrome 2 (NS2) [MIM:605275] LZTR1 Q8N653 VAR_081307 p.Arg283Gln LP/P rs1223430276 Noonan syndrome 10 (NS10) [MIM:616564] LZTR1 Q8N653 VAR_081308 p.Gly286Arg US rs773016962 Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_081309 p.Thr288Ile LP/P - Glioma (GLM) [MIM:137800] LZTR1 Q8N653 VAR_081310 p.Arg294Leu US - Noonan syndrome 10 (NS10) [MIM:616564] LZTR1 Q8N653 VAR_081313 p.Ala392Val US rs767354230 Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_081314 p.Met400Arg US - Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_081315 p.Ala465Glu US rs753757778 Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_081316 p.Leu528Arg US - Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_081317 p.Gly539Cys US - Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_081318 p.Ala554Pro US - Noonan syndrome 10 (NS10) [MIM:616564] LZTR1 Q8N653 VAR_081319 p.Glu563Gln US rs1374240053 Noonan syndrome 2 (NS2) [MIM:605275] LZTR1 Q8N653 VAR_081321 p.Asp654Gly US - Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_081322 p.Asp668Tyr US rs776005012 Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_081323 p.Arg688Gly US - Noonan syndrome 2 (NS2) [MIM:605275] LZTR1 Q8N653 VAR_081324 p.Arg697Gln LP/P rs370638947 Noonan syndrome 2 (NS2) [MIM:605275] LZTR1 Q8N653 VAR_081325 p.Arg697Trp US rs751516987 Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_081326 p.Pro701His LP/P rs1327579827 Noonan syndrome 2 (NS2) [MIM:605275] LZTR1 Q8N653 VAR_081328 p.Arg755Gln US rs762834512 Noonan syndrome 2 (NS2) [MIM:605275] LZTR1 Q8N653 VAR_081329 p.Cys760Arg US rs1419388177 Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_081331 p.Arg810Trp LP/P rs776893978 Glioma (GLM) [MIM:137800] LZTR1 Q8N653 VAR_081332 p.Leu812Pro LP/P rs773059569 Schwannomatosis 2 (SWN2) [MIM:615670] LZTR1 Q8N653 VAR_081333 p.Ile821Thr US rs1275511136 Noonan syndrome 2 (NS2) [MIM:605275] LZTR1 Q8N653 VAR_086931 p.Arg619His US - - LZTS1 Q9Y250 VAR_018274 p.Ser29Pro LB/B rs28937897 - LZTS1 Q9Y250 VAR_018275 p.Lys119Glu LB/B rs119473032 - LZTS1 Q9Y250 VAR_018276 p.Leu475Val LB/B rs723874 - LZTS1 Q9Y250 VAR_053490 p.Ser50Phe LB/B rs34620053 - LZTS2 Q9BRK4 VAR_018277 p.Arg299Trp LB/B rs2275381 - LZTS2 Q9BRK4 VAR_036364 p.Arg121His US rs367898512 A colorectal cancer sample LZTS2 Q9BRK4 VAR_036365 p.Gly291Arg US rs1235690743 A breast cancer sample M1AP Q8TC57 VAR_046335 p.Arg5Gln LB/B rs3025980 - M1AP Q8TC57 VAR_046336 p.Thr195Pro LB/B rs7602159 - M1AP Q8TC57 VAR_085687 p.Ser50Pro US - Spermatogenic failure 48 (SPGF48) [MIM:619108] M1AP Q8TC57 VAR_085688 p.Arg266Gln US - Spermatogenic failure 48 (SPGF48) [MIM:619108] M1AP Q8TC57 VAR_085689 p.Gly317Arg US - Spermatogenic failure 48 (SPGF48) [MIM:619108] M1AP Q8TC57 VAR_085690 p.Pro389Leu US - Spermatogenic failure 48 (SPGF48) [MIM:619108] M1AP Q8TC57 VAR_085691 p.Leu430Pro US - Spermatogenic failure 48 (SPGF48) [MIM:619108] MAB21L1 Q13394 VAR_037568 p.Ser70Pro LB/B rs1065316 - MAB21L1 Q13394 VAR_082959 p.Gln233Pro US rs1566189161 Cerebellar, ocular, craniofacial, and genital syndrome (COFG) [MIM:618479] MAB21L2 Q9Y586 VAR_071831 p.Glu49Lys LP/P rs587777513 Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877] MAB21L2 Q9Y586 VAR_071832 p.Arg51Cys LP/P rs587777512 Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877] MAB21L2 Q9Y586 VAR_071833 p.Arg51His LP/P rs587777511 Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877] MAB21L2 Q9Y586 VAR_071834 p.Arg247Gln LP/P rs587777514 Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877] MAB21L2 Q9Y586 VAR_079053 p.Arg51Gly LP/P rs587777512 Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877] MAB21L4 Q08AI8 VAR_032419 p.Leu309Pro LB/B rs6707568 - MAB21L4 Q08AI8 VAR_050714 p.Ala170Thr LB/B rs4359646 - MACC1 Q6ZN28 VAR_042620 p.Leu31Val LB/B rs4721888 - MACC1 Q6ZN28 VAR_042621 p.Pro50Leu LB/B rs17142503 - MACC1 Q6ZN28 VAR_042622 p.Ser515Leu LB/B rs975263 - MACC1 Q6ZN28 VAR_042623 p.Glu728Ala LB/B rs12671170 - MACC1 Q6ZN28 VAR_042624 p.Arg804Thr LB/B rs3735615 - MACF1 O94854 VAR_033338 p.Ile960Val LB/B rs1746842 - MACF1 O94854 VAR_033339 p.Thr1105Ala LB/B rs783822 - MACF1 O94854 VAR_033340 p.Glu1194Lys LB/B rs587523 - MACF1 Q9UPN3 VAR_035451 p.Glu302Val US - A breast cancer sample MACF1 Q9UPN3 VAR_035452 p.Glu6462Gln US - A breast cancer sample MACF1 Q9UPN3 VAR_048625 p.Met4357Val LB/B rs2296172 - MACF1 Q9UPN3 VAR_048626 p.Lys6201Arg LB/B rs682351 - MACF1 Q9UPN3 VAR_048627 p.Ala6308Thr LB/B rs587404 - MACF1 Q9UPN3 VAR_048628 p.Ser6628Thr LB/B rs668556 - MACF1 Q9UPN3 VAR_048629 p.Thr6752Ile LB/B rs2296174 - MACF1 Q9UPN3 VAR_048630 p.Ile6855Val LB/B rs12068423 - MACF1 Q9UPN3 VAR_065256 p.Gly7093Glu US - A breast cancer sample MACF1 Q9UPN3 VAR_081966 p.Gly6664Arg US rs1488808726 Lissencephaly 9 with complex brainstem malformation (LIS9) [MIM:618325] MACF1 Q9UPN3 VAR_081967 p.Cys7135Phe LP/P rs1557668270 Lissencephaly 9 with complex brainstem malformation (LIS9) [MIM:618325] MACF1 Q9UPN3 VAR_081968 p.Asp7186Tyr LP/P rs1557670503 Lissencephaly 9 with complex brainstem malformation (LIS9) [MIM:618325] MACF1 Q9UPN3 VAR_081969 p.Cys7188Phe LP/P rs1557670520 Lissencephaly 9 with complex brainstem malformation (LIS9) [MIM:618325] MACF1 Q9UPN3 VAR_081970 p.Cys7188Gly LP/P rs1557670515 Lissencephaly 9 with complex brainstem malformation (LIS9) [MIM:618325] MACROD2 A1Z1Q3 VAR_056935 p.Thr58Ile LB/B rs2990505 - MACROD2 A1Z1Q3 VAR_061681 p.Thr335Met LB/B rs41275442 - MAD1L1 Q9Y6D9 VAR_019707 p.Ser29Leu US - A lymphoid cancer cell line MAD1L1 Q9Y6D9 VAR_019708 p.Arg59Cys US rs121908982 A prostate cancer cell line MAD1L1 Q9Y6D9 VAR_019709 p.Asn160Ser LB/B rs550573452 - MAD1L1 Q9Y6D9 VAR_019710 p.Thr299Ala US - Lung cancer cell line MAD1L1 Q9Y6D9 VAR_019711 p.Arg360Gln US rs769418574 A prostate cancer cell line MAD1L1 Q9Y6D9 VAR_019712 p.Thr500Met LB/B rs193231481 - MAD1L1 Q9Y6D9 VAR_019713 p.Glu511Lys LB/B rs377555260 - MAD1L1 Q9Y6D9 VAR_019714 p.Glu516Lys US - A breast cancer cell line MAD1L1 Q9Y6D9 VAR_019715 p.Arg556Cys US rs371561369 A prostate cancer cell line MAD1L1 Q9Y6D9 VAR_019716 p.Arg556His US rs755012008 One individual with lung cancer MAD1L1 Q9Y6D9 VAR_019717 p.Arg558His US rs1801368 A cancer cell line MAD1L1 Q9Y6D9 VAR_019718 p.Glu569Lys US rs201951163 A breast cancer cell line MAD1L1 Q9Y6D9 VAR_019719 p.Arg572His US rs1801500 A cancer cell line MAD2L2 Q9UI95 VAR_077981 p.Val85Glu LP/P rs1057517674 Fanconi anemia, complementation group V (FANCV) [MIM:617243] MADCAM1 Q13477 VAR_017580 p.Pro300His LB/B rs3745925 - MADD Q8WXG6 VAR_030666 p.Pro696Thr LB/B rs17854007 - MADD Q8WXG6 VAR_030667 p.Val751Met LB/B rs1051006 - MADD Q8WXG6 VAR_030668 p.Arg968Gly LB/B rs17854008 - MADD Q8WXG6 VAR_030669 p.Leu1040Phe LB/B rs17854009 - MADD Q8WXG6 VAR_051148 p.Arg765Gln LB/B rs3736101 - MADD Q8WXG6 VAR_051149 p.Leu1518Pro LB/B rs34534575 - MADD Q8WXG6 VAR_084659 p.Arg198His US rs149316791 Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) [MIM:619005] MADD Q8WXG6 VAR_084661 p.Ser257Phe LP/P - DEEAH syndrome (DEEAH) [MIM:619004] MADD Q8WXG6 VAR_084662 p.Gly305Val LP/P - DEEAH syndrome (DEEAH) [MIM:619004] MADD Q8WXG6 VAR_084664 p.Leu346Pro US rs1591767154 Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) [MIM:619005] MADD Q8WXG6 VAR_084665 p.Pro354Leu LP/P rs370382902 Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) [MIM:619005] MADD Q8WXG6 VAR_084666 p.Pro372Leu US rs147713337 DEEAH syndrome (DEEAH) [MIM:619004] MADD Q8WXG6 VAR_084667 p.Leu945Pro US - Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) [MIM:619005] MADD Q8WXG6 VAR_084668 p.Leu1040Arg LP/P - DEEAH syndrome (DEEAH) [MIM:619004] MADD Q8WXG6 VAR_084670 p.Tyr1283Ser US - Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) [MIM:619005] MADD Q8WXG6 VAR_084671 p.Trp1318Arg US - Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) [MIM:619005] MAEA Q7L5Y9 VAR_051150 p.Arg34Cys LB/B rs34082974 - MAEL Q96JY0 VAR_034103 p.Ser41Ala LB/B rs11578336 - MAF O75444 VAR_029369 p.Arg288Pro LP/P rs121917735 Cataract 21, multiple types (CTRCT21) [MIM:610202] MAF O75444 VAR_029370 p.Lys297Arg LP/P rs121917736 Cataract 21, multiple types (CTRCT21) [MIM:610202] MAF O75444 VAR_073891 p.Ser54Leu LP/P rs727502766 Ayme-Gripp syndrome (AYGRP) [MIM:601088] MAF O75444 VAR_073892 p.Thr58Ala LP/P rs727502767 Ayme-Gripp syndrome (AYGRP) [MIM:601088] MAF O75444 VAR_073893 p.Thr58Ile LP/P rs727502769 Ayme-Gripp syndrome (AYGRP) [MIM:601088] MAF O75444 VAR_073894 p.Pro59His LP/P rs727502770 Ayme-Gripp syndrome (AYGRP) [MIM:601088] MAF O75444 VAR_073895 p.Pro59Leu LP/P rs727502770 Ayme-Gripp syndrome (AYGRP) [MIM:601088] MAF O75444 VAR_073896 p.Thr62Arg LP/P rs727502771 Ayme-Gripp syndrome (AYGRP) [MIM:601088] MAF O75444 VAR_073897 p.Pro69Arg LP/P rs727502768 Ayme-Gripp syndrome (AYGRP) [MIM:601088] MAF O75444 VAR_073898 p.Gln303Leu LP/P - Cataract 21, multiple types (CTRCT21) [MIM:610202] MAF O75444 VAR_084822 p.Glu317Gly US - Cataract 21, multiple types (CTRCT21) [MIM:610202] MAF O75444 VAR_084823 p.Lys320Glu LP/P rs1435247084 Cataract 21, multiple types (CTRCT21) [MIM:610202] MAF1 Q9H063 VAR_060408 p.Gly236Arg LB/B rs11546144 - MAFA Q8NHW3 VAR_080790 p.Ser64Phe LP/P rs1554635488 Insulinomatosis and diabetes mellitus (INSDM) [MIM:147630] MAFB Q9Y5Q3 VAR_067979 p.Ser54Leu LP/P rs730880014 Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] MAFB Q9Y5Q3 VAR_067980 p.Pro59Leu LP/P - Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] MAFB Q9Y5Q3 VAR_067981 p.Thr62Pro LP/P rs387907004 Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] MAFB Q9Y5Q3 VAR_067982 p.Pro63Arg LP/P - Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] MAFB Q9Y5Q3 VAR_067983 p.Ser66Cys LP/P - Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] MAFB Q9Y5Q3 VAR_067984 p.Ser69Leu LP/P rs1555826433 Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] MAFB Q9Y5Q3 VAR_067985 p.Ser70Ala LP/P rs387907005 Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] MAFB Q9Y5Q3 VAR_067986 p.Ser70Leu LP/P rs387907006 Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] MAFB Q9Y5Q3 VAR_067987 p.Pro71Leu LP/P rs387907008 Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] MAFB Q9Y5Q3 VAR_067988 p.Pro71Ser LP/P rs387907007 Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] MAG P20916 VAR_059399 p.Leu202Met LB/B rs11084810 - MAG P20916 VAR_076224 p.Ser133Arg LP/P rs2301600 Spastic paraplegia 75, autosomal recessive (SPG75) [MIM:616680] MAG P20916 VAR_076225 p.Cys430Gly US rs587777229 Spastic paraplegia 75, autosomal recessive (SPG75) [MIM:616680] MAG P20916 VAR_077495 p.Arg118His US rs762045079 Spastic paraplegia 75, autosomal recessive (SPG75) [MIM:616680] MAGEA1 P43355 VAR_004283 p.Thr32Ala LB/B rs2008160 - MAGEA1 P43355 VAR_011737 p.Arg72Gln LB/B rs2008144 - MAGEA1 P43355 VAR_036581 p.Lys278Thr US - A breast cancer sample MAGEA1 P43355 VAR_053491 p.Ala63Thr LB/B rs2233044 - MAGEA10 P43363 VAR_024528 p.Arg166Lys LB/B rs210585 - MAGEA10 P43363 VAR_053496 p.Val234Ile LB/B rs210586 - MAGEA11 P43364 VAR_053497 p.Ser191Arg LB/B rs2233049 - MAGEA11 P43364 VAR_080775 p.Ser57Pro US rs1557362265 - MAGEA12 P43365 VAR_053498 p.Glu57Asp LB/B rs16996512 - MAGEA4 P43358 VAR_004284 p.Ala173Thr LB/B rs1047251 - MAGEA4 P43358 VAR_036582 p.Gly153Asp US - A breast cancer sample MAGEA4 P43358 VAR_076262 p.Leu137Gln LB/B rs1224431639 - MAGEA4 P43358 VAR_078319 p.Gly230Glu LB/B rs773875619 - MAGEA5P P43359 VAR_053492 p.Gln29His LB/B rs188387 - MAGEA6 P43360 VAR_053493 p.Ser152Ile LB/B rs7056365 - MAGEA8 P43361 VAR_053494 p.Arg121His LB/B rs35744768 - MAGEA8 P43361 VAR_053495 p.Ser306Phe LB/B rs12010332 - MAGEA9 P43362 VAR_064160 p.Pro31His LB/B rs202146513 - MAGEB1 P43366 VAR_053499 p.Arg267Cys LB/B rs7062640 - MAGEB10 Q96LZ2 VAR_026773 p.Arg65Gln LB/B rs12557898 - MAGEB10 Q96LZ2 VAR_054500 p.Phe50Ser LB/B rs1368769 - MAGEB16 A2A368 VAR_037350 p.Leu38Phe LB/B rs1410961 - MAGEB16 A2A368 VAR_037351 p.Cys128Tyr LB/B rs1410962 - MAGEB16 A2A368 VAR_037352 p.His161Arg LB/B rs5973488 - MAGEB16 A2A368 VAR_037353 p.Met248Val LB/B rs4829390 - MAGEB16 A2A368 VAR_037354 p.Met248Lys LB/B rs4829391 - MAGEB18 Q96M61 VAR_053500 p.Pro40Ser LB/B rs5944317 - MAGEB2 O15479 VAR_027675 p.Glu61Lys LB/B rs2529541 - MAGEB2 O15479 VAR_027676 p.Gly318Arg LB/B rs5972090 - MAGEB3 O15480 VAR_021360 p.Arg107His LB/B rs2071308 - MAGEB3 O15480 VAR_021361 p.Ile112Thr LB/B rs2071309 - MAGEC1 O60732 VAR_053501 p.Cys25Tyr LB/B rs176036 - MAGEC1 O60732 VAR_053502 p.Thr151Ile LB/B rs176037 - MAGEC1 O60732 VAR_053503 p.Gln257His LB/B rs143440588 - MAGEC1 O60732 VAR_053504 p.Phe276Ser LB/B rs75148863 - MAGEC1 O60732 VAR_060068 p.His327Gln LB/B rs176047 - MAGEC1 O60732 VAR_062121 p.His709Tyr LB/B rs56256227 - MAGEC2 Q9UBF1 VAR_036583 p.Gly6Cys US - A breast cancer sample MAGEC3 Q8TD91 VAR_053505 p.Leu165Met LB/B rs11095910 - MAGEC3 Q8TD91 VAR_053506 p.Ala307Thr LB/B rs176024 - MAGEC3 Q8TD91 VAR_053507 p.Ala328Thr LB/B rs176026 - MAGEC3 Q8TD91 VAR_060069 p.Ser155Pro LB/B rs11095909 - MAGED1 Q9Y5V3 VAR_060070 p.Leu238Met LB/B rs12689461 - MAGED2 Q9UNF1 VAR_011639 p.Gln266Arg LB/B rs1021000890 - MAGED2 Q9UNF1 VAR_036584 p.Lys458Gln US - A breast cancer sample MAGED2 Q9UNF1 VAR_053508 p.Glu187Asp LB/B rs12014977 - MAGED2 Q9UNF1 VAR_076836 p.Arg446Cys LP/P rs878854407 Bartter syndrome 5, antenatal, transient (BARTS5) [MIM:300971] MAGEE1 Q9HCI5 VAR_036585 p.Tyr640Phe US - A breast cancer sample MAGEE1 Q9HCI5 VAR_036586 p.Thr664Asn US - A breast cancer sample MAGEE1 Q9HCI5 VAR_060071 p.Glu339Asp LB/B rs7051260 - MAGEE1 Q9HCI5 VAR_076263 p.Ser305Cys LB/B rs142080557 - MAGEE2 Q8TD90 VAR_053509 p.Gly291Cys LB/B rs12688600 - MAGEF1 Q9HAY2 VAR_057651 p.Lys93Arg LB/B rs34540780 - MAGIX Q9H6Y5 VAR_037075 p.Arg53His LB/B rs5906744 - MAGIX Q9H6Y5 VAR_047035 p.Arg112His LB/B rs5906744 - MAGIX Q9H6Y5 VAR_047036 p.Leu173Val LB/B rs5905720 - MAGIX Q9H6Y5 VAR_047037 p.Leu323Phe LB/B rs4824462 - MAGOHB Q96A72 VAR_036431 p.Glu119Lys US - A breast cancer sample MAGT1 Q9H0U3 VAR_045837 p.Val311Gly US rs145245774 - MAGT1 Q9H0U3 VAR_083421 p.Lys324Asn LP/P rs373260156 Congenital disorder of glycosylation 1CC (CDG1CC) [MIM:301031] MAIP1 Q8WWC4 VAR_034911 p.Leu290Ile LB/B rs2118548 - MAK P20794 VAR_042006 p.Ile189Val LB/B rs56215624 - MAK P20794 VAR_042007 p.Arg272Pro US - A breast infiltrating ductal carcinoma sample MAK P20794 VAR_042008 p.Asn384Ser LB/B rs55773478 - MAK P20794 VAR_042009 p.Pro520Ser LB/B rs567083 - MAK P20794 VAR_042010 p.Phe550Leu LB/B rs56217305 - MAK P20794 VAR_053932 p.Asp329Glu LB/B rs17579447 - MAK P20794 VAR_066988 p.Gly13Ser LP/P rs387906647 Retinitis pigmentosa 62 (RP62) [MIM:614181] MAK P20794 VAR_066989 p.Gly27Arg LP/P rs754916169 Retinitis pigmentosa 62 (RP62) [MIM:614181] MAK P20794 VAR_066990 p.Asn130His LP/P rs387906646 Retinitis pigmentosa 62 (RP62) [MIM:614181] MAK P20794 VAR_066991 p.Arg166His LP/P rs387906648 Retinitis pigmentosa 62 (RP62) [MIM:614181] MAK P20794 VAR_066992 p.Ile181Thr LP/P rs750559316 Retinitis pigmentosa 62 (RP62) [MIM:614181] MAK P20794 VAR_066993 p.Pro325Leu LB/B rs371971492 - MAK16 Q9BXY0 VAR_023076 p.Gln277Arg LB/B rs6468171 - MAL2 Q969L2 VAR_050016 p.Ala92Thr LB/B rs2303398 - MALRD1 Q5VYJ5 VAR_042585 p.Asp1266Ala LB/B rs7100382 - MALRD1 Q5VYJ5 VAR_042586 p.Ile1277Val LB/B rs7100403 - MALRD1 Q5VYJ5 VAR_042587 p.Lys1357Asn LB/B rs1609746 - MALRD1 Q5VYJ5 VAR_042588 p.Val1417Ala LB/B rs10827306 - MALRD1 Q5VYJ5 VAR_042589 p.Asp1513Gly LB/B rs12773592 - MALRD1 Q5VYJ5 VAR_042590 p.Glu1516Lys LB/B rs12771333 - MALRD1 Q5VYJ5 VAR_042592 p.Val1602Ile LB/B rs10763975 - MALRD1 Q5VYJ5 VAR_042594 p.Leu1683Ile LB/B rs16918863 - MALRD1 Q5VYJ5 VAR_042595 p.His1721Gln LB/B rs12256835 - MALRD1 Q5VYJ5 VAR_042596 p.Met1807Thr LB/B rs7100661 - MALRD1 Q5VYJ5 VAR_042597 p.Pro1895Ser LB/B rs16919132 - MALRD1 Q5VYJ5 VAR_042598 p.Ser1941Asn LB/B rs10827628 - MALRD1 Q5VYJ5 VAR_042599 p.Met2013Arg LB/B rs16919148 - MALRD1 Q5VYJ5 VAR_075928 p.Ala666Val LB/B rs16918344 - MALRD1 Q5VYJ5 VAR_075929 p.Asp793His LB/B rs4601653 - MALRD1 Q5VYJ5 VAR_075930 p.Ser887Asn LB/B rs2358355 - MALT1 Q9UDY8 VAR_048620 p.Ile641Val LB/B rs35533328 - MALT1 Q9UDY8 VAR_070857 p.Ser89Ile LP/P rs398123058 Immunodeficiency 12 (IMD12) [MIM:615468] MAMDC2 Q7Z304 VAR_028080 p.Ser294Asn LB/B rs1998972 - MAMDC2 Q7Z304 VAR_061318 p.Val646Ala LB/B rs35534839 - MAMDC4 Q6UXC1 VAR_032128 p.Trp987Gly LB/B rs2275156 - MAMDC4 Q6UXC1 VAR_035778 p.Pro244Thr US rs755530502 A breast cancer sample MAMDC4 Q6UXC1 VAR_035779 p.Arg1174Trp US rs138623341 A breast cancer sample MAML1 Q92585 VAR_029010 p.Ser1007Asn LB/B rs6895902 - MAML1 Q92585 VAR_061335 p.Ser583Asn LB/B rs41285557 - MAML2 Q8IZL2 VAR_063127 p.Pro896Thr LB/B rs7123133 - MAMLD1 Q13495 VAR_020273 p.Asn662Ser LB/B rs2073043 - MAMLD1 Q13495 VAR_030024 p.Pro359Ser LB/B rs41313406 - MAMLD1 Q13495 VAR_030025 p.Gln580Arg LB/B - - MAN1A1 P33908 VAR_034102 p.Arg651Gly LB/B rs35544784 - MAN1B1 Q9UKM7 VAR_055841 p.Asn59Ser LB/B rs968733 - MAN1B1 Q9UKM7 VAR_066592 p.Arg334Cys LP/P rs387906886 Rafiq syndrome (RAFQS) [MIM:614202] MAN1B1 Q9UKM7 VAR_066593 p.Glu397Lys LP/P rs387906885 Rafiq syndrome (RAFQS) [MIM:614202] MAN2A1 Q16706 VAR_074182 p.Leu1012Val LB/B - - MAN2A2 P49641 VAR_047912 p.Gln412Arg LB/B rs2106673 - MAN2A2 P49641 VAR_047913 p.Ser665Phe LB/B rs1266494 - MAN2B1 O00754 VAR_003338 p.His72Leu LP/P rs387906261 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_003339 p.Leu278Val LB/B rs1054486 - MAN2B1 O00754 VAR_003340 p.Thr312Ile LB/B rs1054487 - MAN2B1 O00754 VAR_003341 p.Arg337Gln LB/B rs1133330 - MAN2B1 O00754 VAR_003342 p.Thr355Pro LP/P rs864621992 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_003343 p.Pro356Arg LP/P rs121434333 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_003344 p.Glu402Lys US rs370760999 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_003345 p.Asn413Ser LB/B rs35836657 - MAN2B1 O00754 VAR_003346 p.Trp714Arg LP/P rs864621993 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_003347 p.Arg750Trp LP/P rs80338680 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_003348 p.Leu809Pro LP/P rs80338681 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_026412 p.His200Leu LP/P rs864621978 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_026413 p.Ser453Tyr LP/P rs864621984 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_026414 p.Gly801Asp LP/P rs864621994 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_049209 p.Ala250Ser LB/B rs3745650 - MAN2B1 O00754 VAR_049210 p.Ala481Ser LB/B rs34544747 - MAN2B1 O00754 VAR_068034 p.Cys55Phe LP/P rs864621975 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068035 p.Asp74Glu LP/P rs746702002 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068036 p.Ala95Pro LP/P rs754036398 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068037 p.Tyr99His LP/P rs794727484 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068038 p.Asp159Asn LP/P rs864621976 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068039 p.Pro197Arg LP/P rs864621977 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068040 p.His200Asn LP/P rs772108001 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068041 p.Arg202Pro LP/P rs864621979 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068042 p.Arg229Trp LP/P rs763257568 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068043 p.Pro248Leu LB/B rs117843968 - MAN2B1 O00754 VAR_068044 p.Pro263Leu LP/P rs746808159 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068045 p.Pro282Ser LB/B rs45576136 - MAN2B1 O00754 VAR_068046 p.Ser318Leu LP/P rs774034389 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068048 p.Leu352Pro LP/P rs864621980 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068049 p.Pro379Leu LP/P rs864621981 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068050 p.Gly390Cys LP/P rs864621982 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068051 p.Gly420Val LP/P rs772853856 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068052 p.His445Tyr LP/P rs864621983 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068053 p.Gly451Cys LP/P rs368899357 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068054 p.Ser453Phe LP/P rs864621984 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068055 p.Val457Glu LP/P rs864621985 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068056 p.Cys501Ser LP/P rs747721968 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068057 p.Leu565Pro LP/P rs864621986 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068058 p.Pro669Leu LB/B rs75029862 - MAN2B1 O00754 VAR_068059 p.Thr745Arg LP/P rs864621987 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068060 p.Gly800Arg LP/P rs398123456 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068061 p.Gly800Trp LP/P rs398123456 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068063 p.Gly891Arg LP/P rs864621988 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068064 p.Leu892Pro LP/P rs864621989 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068065 p.Arg916Cys LP/P rs864621990 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068066 p.Arg916His LP/P rs758765126 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068067 p.Arg950Pro LP/P rs139041112 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068068 p.Leu956Arg LP/P rs768233248 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_068069 p.Phe1000Ser LP/P rs864621991 Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B2 Q9Y2E5 VAR_025328 p.Gln243Pro LB/B rs2301796 - MAN2B2 Q9Y2E5 VAR_025329 p.Val320Met LB/B rs2301795 - MAN2B2 Q9Y2E5 VAR_025330 p.Met446Val LB/B rs2301790 - MAN2B2 Q9Y2E5 VAR_025331 p.Asn541Ser LB/B rs2301788 - MAN2B2 Q9Y2E5 VAR_055840 p.Arg365Cys LB/B rs6858328 - MAN2C1 Q9NTJ4 VAR_021914 p.Val960Ile LB/B rs3803466 - MAN2C1 Q9NTJ4 VAR_049211 p.Val950Met LB/B rs3803467 - MAN2C1 Q9NTJ4 VAR_049212 p.Arg975Lys LB/B rs5745934 - MAN2C1 Q9NTJ4 VAR_061192 p.Arg818His LB/B rs58557444 - MAN2C1 Q9NTJ4 VAR_069180 p.Arg323Cys LB/B rs200595616 - MAN2C1 Q9NTJ4 VAR_087012 p.Gly203Arg US rs190692217 Congenital disorder of deglycosylation 2 (CDDG2) [MIM:619775] MAN2C1 Q9NTJ4 VAR_087013 p.Arg768Gln US rs62029711 Congenital disorder of deglycosylation 2 (CDDG2) [MIM:619775] MAN2C1 Q9NTJ4 VAR_087014 p.Cys871Ser US rs143755898 Congenital disorder of deglycosylation 2 (CDDG2) [MIM:619775] MANBA O00462 VAR_026232 p.Val253Ile LB/B rs227368 - MANBA O00462 VAR_026233 p.Thr701Met LB/B rs2866413 - MANBA O00462 VAR_059311 p.Val253Leu LB/B rs227368 - MANBA O00462 VAR_081392 p.Arg182Trp LP/P rs374377679 Mannosidosis, beta A, lysosomal (MANSB) [MIM:248510] MANBA O00462 VAR_081393 p.Gly392Glu LP/P - Mannosidosis, beta A, lysosomal (MANSB) [MIM:248510] MANBA O00462 VAR_081395 p.Ser505Pro LP/P rs121434334 Mannosidosis, beta A, lysosomal (MANSB) [MIM:248510] MANEA Q5SRI9 VAR_036242 p.Tyr331Cys US rs780723017 A breast cancer sample MANSC1 Q9H8J5 VAR_021840 p.Val55Ile LB/B rs3741798 - MANSC1 Q9H8J5 VAR_021841 p.Asn375Tyr LB/B rs3741803 - MANSC1 Q9H8J5 VAR_051151 p.Asp165Asn LB/B rs17375215 - MANSC1 Q9H8J5 VAR_061682 p.Leu141Val LB/B rs34668262 - MAOA P21397 VAR_014795 p.Phe314Val LB/B rs1799835 - MAOA P21397 VAR_014796 p.Lys520Arg LB/B rs1800466 - MAOA P21397 VAR_036545 p.Asp15Glu US - A breast cancer sample MAOA P21397 VAR_064573 p.Glu188Lys LB/B rs77698881 - MAOA P21397 VAR_071963 p.Cys266Phe LB/B rs587777457 - MAP1A P78559 VAR_039705 p.Phe72Leu LB/B rs2584695 - MAP1A P78559 VAR_039706 p.Ala335Ser LB/B rs1060935 - MAP1A P78559 VAR_039707 p.Lys336Thr LB/B rs1060936 - MAP1A P78559 VAR_039708 p.Ala353Ser LB/B rs1060937 - MAP1A P78559 VAR_039709 p.Ala357Ser LB/B rs1060938 - MAP1A P78559 VAR_039710 p.Lys364Gln LB/B rs2602129 - MAP1A P78559 VAR_039711 p.Lys485Gln LB/B rs2584715 - MAP1A P78559 VAR_039712 p.Thr830Ala LB/B rs3803337 - MAP1A P78559 VAR_039713 p.Asn1078Ser LB/B rs8034794 - MAP1A P78559 VAR_039714 p.Ile1102Thr LB/B rs8036179 - MAP1A P78559 VAR_039715 p.Arg1185His LB/B rs3803335 - MAP1A P78559 VAR_039716 p.Asp1245Asn LB/B rs12912505 - MAP1A P78559 VAR_039717 p.Asp1461Asn LB/B rs2245715 - MAP1A P78559 VAR_039718 p.Gln1553His LB/B rs2584717 - MAP1A P78559 VAR_039719 p.Lys1605Asn LB/B rs2584697 - MAP1A P78559 VAR_039720 p.Trp1650Cys LB/B rs1060943 - MAP1A P78559 VAR_039721 p.Ala1690Ser LB/B rs1060946 - MAP1A P78559 VAR_039722 p.Pro1827Ala LB/B rs2229014 - MAP1A P78559 VAR_039723 p.Ala1881Pro LB/B rs1060950 - MAP1A P78559 VAR_039724 p.Ala1912Val LB/B rs2584718 - MAP1A P78559 VAR_039725 p.Ser1938Arg LB/B rs2584719 - MAP1A P78559 VAR_039726 p.Ser2056Arg LB/B rs1060953 - MAP1A P78559 VAR_039727 p.His2214Tyr LB/B rs1060955 - MAP1A P78559 VAR_039728 p.Asp2327Val LB/B rs8026745 - MAP1A P78559 VAR_056122 p.Ile2461Thr LB/B rs8028849 - MAP1A P78559 VAR_059432 p.Thr2405Ile LB/B rs8027254 - MAP1A P78559 VAR_059433 p.Asp2465Asn LB/B rs8027916 - MAP1B P46821 VAR_024530 p.Ile594Val LB/B rs1866374 - MAP1B P46821 VAR_030347 p.Glu869Gly LB/B rs16876070 - MAP1B P46821 VAR_034105 p.Pro1296Leu LB/B rs34093016 - MAP1B P46821 VAR_036016 p.Arg326Gln US rs766004582 A colorectal cancer sample MAP1B P46821 VAR_036017 p.Val574Met US rs369022142 A colorectal cancer sample MAP1B P46821 VAR_056123 p.Ser1917Arg LB/B rs13153166 - MAP1B P46821 VAR_087096 p.Ile923Thr LB/B rs143194383 - MAP1B P46821 VAR_087097 p.Ser1400Gly US rs753026898 Deafness, autosomal dominant, 83 (DFNA83) [MIM:619808] MAP1B P46821 VAR_087098 p.Phe1838Leu LB/B rs139319889 - MAP1S Q66K74 VAR_037236 p.Ser411Cys LB/B rs17710707 - MAP1S Q66K74 VAR_037237 p.Pro538Gln LB/B rs7252905 - MAP1S Q66K74 VAR_050023 p.Leu372Val LB/B rs17710707 - MAP2 P11137 VAR_019612 p.Ala82Gly LB/B rs2271251 - MAP2 P11137 VAR_019613 p.Arg423Lys LB/B rs741006 - MAP2 P11137 VAR_036014 p.Glu277Asp US - A colorectal cancer sample MAP2 P11137 VAR_036015 p.Pro705Leu US rs146432517 A colorectal cancer sample MAP2 P11137 VAR_050019 p.Glu179Gly LB/B rs6749066 - MAP2 P11137 VAR_050020 p.His976Leu LB/B rs13425372 - MAP2 P11137 VAR_050021 p.Gly991Arg LB/B rs35927101 - MAP2 P11137 VAR_050022 p.Met1099Val LB/B rs17745550 - MAP2K1 Q02750 VAR_035093 p.Phe53Ser LP/P rs121908594 Cardiofaciocutaneous syndrome 3 (CFC3) [MIM:615279] MAP2K1 Q02750 VAR_035094 p.Tyr130Cys LP/P rs121908595 Cardiofaciocutaneous syndrome 3 (CFC3) [MIM:615279] MAP2K1 Q02750 VAR_069780 p.Gly128Val LP/P rs121908596 Cardiofaciocutaneous syndrome 3 (CFC3) [MIM:615279] MAP2K1 Q02750 VAR_084452 p.Gln56Pro LP/P rs1057519729 Melorheostosis, isolated (MEL) [MIM:155950] MAP2K1 Q02750 VAR_084453 p.Lys57Glu LP/P rs397516790 Melorheostosis, isolated (MEL) [MIM:155950] MAP2K1 Q02750 VAR_084454 p.Lys57Asn LP/P rs869025608 Melorheostosis, isolated (MEL) [MIM:155950] MAP2K2 P36507 VAR_035095 p.Phe57Cys LP/P rs121434497 Cardiofaciocutaneous syndrome 4 (CFC4) [MIM:615280] MAP2K2 P36507 VAR_069781 p.Phe57Val LP/P rs121434498 Cardiofaciocutaneous syndrome 4 (CFC4) [MIM:615280] MAP2K2 P36507 VAR_069782 p.Pro128Gln LP/P rs267607230 Cardiofaciocutaneous syndrome 4 (CFC4) [MIM:615280] MAP2K2 P36507 VAR_069783 p.Tyr134His LP/P rs121434499 Cardiofaciocutaneous syndrome 4 (CFC4) [MIM:615280] MAP2K3 P46734 VAR_014208 p.Arg175Trp US rs1339756947 Colon cancer MAP2K3 P46734 VAR_014209 p.Leu215Val US rs989026404 Colon cancer MAP2K3 P46734 VAR_040817 p.Arg26Thr LB/B - - MAP2K3 P46734 VAR_046062 p.Pro40Thr LB/B rs33911218 - MAP2K3 P46734 VAR_046063 p.Ser68Pro LB/B rs34105301 - MAP2K3 P46734 VAR_046064 p.Ala84Thr LB/B rs2305873 - MAP2K3 P46734 VAR_046065 p.Met90Ile LB/B rs36076766 - MAP2K3 P46734 VAR_046066 p.Arg94Leu LB/B rs56067280 - MAP2K3 P46734 VAR_046067 p.Arg96Trp LB/B rs56216806 - MAP2K3 P46734 VAR_046068 p.Arg293His LB/B rs35206134 - MAP2K3 P46734 VAR_046069 p.Val339Met LB/B rs2363198 - MAP2K3 P46734 VAR_061742 p.Arg55Thr LB/B rs36047035 - MAP2K4 P45985 VAR_040818 p.Gln142Leu US - A lung squamous cell carcinoma sample MAP2K4 P45985 VAR_040819 p.Arg154Trp US rs1567657403 A colorectal adenocarcinoma sample MAP2K4 P45985 VAR_040820 p.Asn234Ile US - An ovarian serous carcinoma sample MAP2K4 P45985 VAR_040821 p.Ser251Asn US - A metastatic melanoma sample MAP2K4 P45985 VAR_040822 p.Ala279Thr US rs753665559 A colorectal adenocarcinoma sample MAP2K4 P45985 VAR_062963 p.Ser16Arg LB/B rs17855590 - MAP2K5 Q13163 VAR_040823 p.His118Arg LB/B rs56241934 - MAP2K5 Q13163 VAR_040824 p.Ala427Val LB/B rs1226964455 - MAP2K5 Q13163 VAR_046070 p.Ala428Thr LB/B rs55811347 - MAP2K7 O14733 VAR_029890 p.Leu259Phe LB/B rs1053566 - MAP2K7 O14733 VAR_040825 p.Asn118Ser LB/B rs56316660 - MAP2K7 O14733 VAR_040826 p.Arg138Cys LB/B rs56106612 - MAP2K7 O14733 VAR_040827 p.Arg162Cys US - A colorectal adenocarcinoma sample MAP2K7 O14733 VAR_040828 p.Arg162His US - A colorectal adenocarcinoma sample MAP2K7 O14733 VAR_040829 p.Ala195Thr LB/B rs55800262 - MAP3K1 Q13233 VAR_040680 p.Ser92Asn LB/B - - MAP3K1 Q13233 VAR_040681 p.Cys443Ser LB/B - - MAP3K1 Q13233 VAR_051636 p.Asp806Asn LB/B rs702689 - MAP3K1 Q13233 VAR_051637 p.Val906Ile LB/B rs832582 - MAP3K1 Q13233 VAR_065504 p.Leu189Pro LP/P rs387906788 46,XY sex reversal 6 (SRXY6) [MIM:613762] MAP3K1 Q13233 VAR_065505 p.Leu189Arg LP/P rs387906788 46,XY sex reversal 6 (SRXY6) [MIM:613762] MAP3K1 Q13233 VAR_065507 p.Gly616Arg US rs143853590 46,XY sex reversal 6 (SRXY6) [MIM:613762] MAP3K10 Q02779 VAR_040702 p.Gly107Glu US - A metastatic melanoma sample MAP3K10 Q02779 VAR_051639 p.Pro168Gln LB/B rs36102209 - MAP3K11 Q16584 VAR_030604 p.Pro252His LB/B rs17855912 - MAP3K11 Q16584 VAR_040703 p.Asp151Val LB/B rs34178129 - MAP3K11 Q16584 VAR_040704 p.Ala282Gly LB/B rs34594252 - MAP3K12 Q12852 VAR_040705 p.Glu409Lys US - A breast pleomorphic lobular carcinoma sample MAP3K12 Q12852 VAR_040706 p.Gly628Arg LB/B rs34366500 - MAP3K12 Q12852 VAR_040707 p.Gly640Ser LB/B rs55794887 - MAP3K13 O43283 VAR_030577 p.Arg915His LB/B rs3732576 - MAP3K13 O43283 VAR_040708 p.Arg517Gly LB/B rs56408536 - MAP3K13 O43283 VAR_040709 p.Glu712Lys LB/B rs56309231 - MAP3K13 O43283 VAR_040710 p.Pro746Leu US - A metastatic melanoma sample MAP3K13 O43283 VAR_051640 p.Glu44Lys LB/B rs35266179 - MAP3K14 Q99558 VAR_040711 p.Ser140Asn LB/B rs11574819 - MAP3K14 Q99558 VAR_040712 p.Gly514Lys US - A lung neuroendocrine carcinoma sample MAP3K14 Q99558 VAR_040713 p.Thr764Ala LB/B rs56302559 - MAP3K14 Q99558 VAR_040714 p.Thr852Ile US - An ovarian mucinous carcinoma sample MAP3K14 Q99558 VAR_040715 p.Pro928His LB/B rs56036201 - MAP3K14 Q99558 VAR_051641 p.Thr255Met LB/B rs11574820 - MAP3K14 Q99558 VAR_051642 p.His674Tyr LB/B rs11867907 - MAP3K14 Q99558 VAR_088815 p.Val345Met US - Immunodeficiency 112 (IMD112) [MIM:620449] MAP3K14 Q99558 VAR_088816 p.Pro565Arg LP/P - Immunodeficiency 112 (IMD112) [MIM:620449] MAP3K15 Q6ZN16 VAR_040716 p.Ala192Thr LB/B rs5909299 - MAP3K15 Q6ZN16 VAR_040717 p.Ser199Asn LB/B rs55916006 - MAP3K15 Q6ZN16 VAR_040718 p.Asp226His LB/B rs56338727 - MAP3K15 Q6ZN16 VAR_040719 p.Arg255Ser US - A lung squamous cell carcinoma sample MAP3K15 Q6ZN16 VAR_040720 p.Ser456Gly LB/B rs56212339 - MAP3K15 Q6ZN16 VAR_040721 p.Arg494Cys LB/B rs41305349 - MAP3K15 Q6ZN16 VAR_040722 p.Ser562Leu US - A lung adenocarcinoma sample MAP3K15 Q6ZN16 VAR_040723 p.Arg677Gln US - A metastatic melanoma sample MAP3K15 Q6ZN16 VAR_040724 p.Gly838Ser LB/B rs56381411 - MAP3K15 Q6ZN16 VAR_040725 p.Ser993Leu LB/B rs56233219 - MAP3K15 Q6ZN16 VAR_040726 p.Asn1029His LB/B rs55787622 - MAP3K15 Q6ZN16 VAR_040727 p.Trp1247Arg US - A colorectal adenocarcinoma sample MAP3K15 Q6ZN16 VAR_040728 p.Gln1251Glu LB/B rs15943 - MAP3K19 Q56UN5 VAR_041334 p.Ile500Met US - A breast pleomorphic lobular carcinoma sample MAP3K19 Q56UN5 VAR_051687 p.Thr438Ile LB/B rs16831235 - MAP3K19 Q56UN5 VAR_051688 p.Glu676Gln LB/B rs1112542 - MAP3K19 Q56UN5 VAR_051689 p.Glu812Gly LB/B rs3905317 - MAP3K2 Q9Y2U5 VAR_040682 p.Ile110Val LB/B rs55767983 - MAP3K2 Q9Y2U5 VAR_040683 p.Met112Ile US - A lung large cell carcinoma sample MAP3K2 Q9Y2U5 VAR_040684 p.Asp140Gly LB/B rs56307783 - MAP3K20 Q9NYL2 VAR_022827 p.Ser531Leu LB/B rs3769148 - MAP3K20 Q9NYL2 VAR_040806 p.Thr267Met LB/B rs6758025 - MAP3K20 Q9NYL2 VAR_040807 p.Ala281Thr US - - MAP3K20 Q9NYL2 VAR_040808 p.Ala281Val LB/B rs34683477 - MAP3K20 Q9NYL2 VAR_040809 p.Arg580Trp LB/B rs7593622 - MAP3K20 Q9NYL2 VAR_040810 p.Pro740Thr LB/B rs56202258 - MAP3K20 Q9NYL2 VAR_040811 p.Tyr773His LB/B rs35608243 - MAP3K20 Q9NYL2 VAR_040812 p.Lys784Thr LB/B rs55830025 - MAP3K20 Q9NYL2 VAR_076448 p.Phe368Cys LP/P rs863225437 Split-foot malformation with mesoaxial polydactyly (SFMMP) [MIM:616890] MAP3K20 Q9NYL2 VAR_082158 p.Arg250Trp US rs763481300 Myopathy, centronuclear, 6, with fiber-type disproportion (CNM6) [MIM:617760] MAP3K20 Q9NYL2 VAR_087102 p.Ala505Ser LP/P - Split-foot malformation with mesoaxial polydactyly (SFMMP) [MIM:616890] MAP3K21 Q5TCX8 VAR_040729 p.Asp420Asn LB/B rs35465006 - MAP3K21 Q5TCX8 VAR_040730 p.Glu563Asp LB/B rs35758282 - MAP3K21 Q5TCX8 VAR_040731 p.Ser597Phe LB/B rs34984140 - MAP3K21 Q5TCX8 VAR_040732 p.Val728Ile LB/B rs3795375 - MAP3K21 Q5TCX8 VAR_040733 p.Glu741Asp LB/B rs3795374 - MAP3K21 Q5TCX8 VAR_040734 p.Cys784Gly LB/B rs963981 - MAP3K21 Q5TCX8 VAR_040735 p.Arg892Trp LB/B rs55681416 - MAP3K21 Q5TCX8 VAR_040736 p.Thr900Ile LB/B rs34499091 - MAP3K21 Q5TCX8 VAR_040737 p.Arg977Cys LB/B rs56065162 - MAP3K21 Q5TCX8 VAR_040738 p.Pro982Leu LB/B rs34794284 - MAP3K3 Q99759 VAR_037275 p.Ala325Gly LB/B rs34042309 - MAP3K3 Q99759 VAR_037276 p.Ala435Gly LB/B rs9910858 - MAP3K3 Q99759 VAR_040685 p.Val281Met LB/B rs36109904 - MAP3K4 Q9Y6R4 VAR_040686 p.Ile294Thr LB/B rs35842248 - MAP3K4 Q9Y6R4 VAR_040687 p.Val335Ile LB/B rs35730939 - MAP3K4 Q9Y6R4 VAR_040688 p.Arg566His LB/B rs55765351 - MAP3K4 Q9Y6R4 VAR_040689 p.Gln584His LB/B rs34018542 - MAP3K4 Q9Y6R4 VAR_040690 p.His906Pro LB/B rs35533223 - MAP3K4 Q9Y6R4 VAR_040691 p.Glu1413Gln US - An ovarian serous carcinoma sample MAP3K4 Q9Y6R4 VAR_040692 p.Ala1492Val LB/B rs41267837 - MAP3K4 Q9Y6R4 VAR_059767 p.Arg157His LB/B rs4559074 - MAP3K5 Q99683 VAR_040693 p.Gly1006Arg LB/B rs45626535 - MAP3K5 Q99683 VAR_040694 p.Ile1214Thr LB/B rs56379668 - MAP3K5 Q99683 VAR_040695 p.Ile1250Val LB/B rs35551087 - MAP3K5 Q99683 VAR_040696 p.Thr1314Ile LB/B rs45599539 - MAP3K5 Q99683 VAR_040697 p.Asp1315Asn LB/B rs41288957 - MAP3K6 O95382 VAR_032832 p.Thr455Ile LB/B rs1138294 - MAP3K6 O95382 VAR_032833 p.Asn622Lys LB/B rs35659744 - MAP3K6 O95382 VAR_032834 p.Ser969Asn LB/B rs17856498 - MAP3K6 O95382 VAR_035629 p.Pro869Thr US - A breast cancer sample MAP3K6 O95382 VAR_046050 p.Arg499Cys LB/B rs11247641 - MAP3K6 O95382 VAR_046051 p.Arg544Trp LB/B rs55671988 - MAP3K6 O95382 VAR_046052 p.Arg668Gly LB/B rs55869163 - MAP3K6 O95382 VAR_046053 p.Arg673Leu LB/B rs56359841 - MAP3K6 O95382 VAR_046054 p.Ser925Leu US - A breast pleomorphic lobular carcinoma sample MAP3K6 O95382 VAR_046055 p.Thr968Ile US - An ovarian endometrioid cancer sample MAP3K6 O95382 VAR_046056 p.Ala1061Thr LB/B rs55990440 - MAP3K6 O95382 VAR_046057 p.Gly1233Ala LB/B rs17162549 - MAP3K7 O43318 VAR_077342 p.Glu70Gln LP/P rs886039231 Frontometaphyseal dysplasia 2 (FMD2) [MIM:617137] MAP3K7 O43318 VAR_077343 p.Val100Glu LP/P rs886039232 Frontometaphyseal dysplasia 2 (FMD2) [MIM:617137] MAP3K7 O43318 VAR_077344 p.Gly110Cys LP/P rs886039235 Cardiospondylocarpofacial syndrome (CSCF) [MIM:157800] MAP3K7 O43318 VAR_077345 p.Gly168Arg LP/P rs886039233 Frontometaphyseal dysplasia 2 (FMD2) [MIM:617137] MAP3K7 O43318 VAR_077346 p.Trp241Arg LP/P rs886039237 Cardiospondylocarpofacial syndrome (CSCF) [MIM:157800] MAP3K7 O43318 VAR_077347 p.Pro512Leu LP/P rs886039230 Frontometaphyseal dysplasia 2 (FMD2) [MIM:617137] MAP3K7 O43318 VAR_080761 p.Arg410Gln US rs201721045 - MAP3K8 P41279 VAR_051638 p.Ser214Phe LB/B rs3087944 - MAP3K9 P80192 VAR_040698 p.Ala246Val US - A metastatic melanoma sample MAP3K9 P80192 VAR_040699 p.Arg467Cys US rs773256562 A gastric adenocarcinoma sample MAP3K9 P80192 VAR_040700 p.Arg497Gln LB/B rs56196343 - MAP3K9 P80192 VAR_040701 p.Tyr646Cys LB/B rs34322726 - MAP4 P27816 VAR_020361 p.Ser427Tyr LB/B rs1060407 - MAP4 P27816 VAR_020362 p.Glu441Gln LB/B rs2230169 - MAP4 P27816 VAR_039566 p.Arg23Gln LB/B rs11711953 - MAP4 P27816 VAR_039567 p.Pro366Leu LB/B rs13097415 - MAP4 P27816 VAR_039568 p.Ser367Pro LB/B rs13096947 - MAP4 P27816 VAR_039569 p.Asp409Gly LB/B rs13076542 - MAP4 P27816 VAR_039570 p.Val628Ile LB/B rs1137524 - MAP4 P27816 VAR_039571 p.Ile994Val LB/B rs35736893 - MAP4K1 Q92918 VAR_040739 p.Pro312Thr LB/B rs55924696 - MAP4K1 Q92918 VAR_040740 p.Pro351Ser LB/B rs34591617 - MAP4K1 Q92918 VAR_040741 p.Pro361Leu LB/B rs56060067 - MAP4K1 Q92918 VAR_040742 p.Ser737Phe US rs1238066548 A metastatic melanoma sample MAP4K1 Q92918 VAR_051643 p.Asn811Ser LB/B rs12975825 - MAP4K3 Q8IVH8 VAR_040743 p.Val200Leu LB/B rs35957290 - MAP4K3 Q8IVH8 VAR_040744 p.His424Gln LB/B rs56317466 - MAP4K3 Q8IVH8 VAR_040745 p.Thr669Ser US - A lung squamous cell carcinoma sample MAP4K4 O95819 VAR_040746 p.Ser712Thr LB/B - - MAP4K5 Q9Y4K4 VAR_040747 p.Ala334Thr LB/B rs12881869 - MAP4K5 Q9Y4K4 VAR_040748 p.Pro407Leu LB/B rs34818002 - MAP4K5 Q9Y4K4 VAR_040749 p.Ile446Val LB/B rs55815015 - MAP4K5 Q9Y4K4 VAR_040750 p.Lys473Asn LB/B rs35768475 - MAP4K5 Q9Y4K4 VAR_040751 p.Arg552Gln LB/B rs55997280 - MAP4K5 Q9Y4K4 VAR_040752 p.Thr633Met LB/B rs17780143 - MAP4K5 Q9Y4K4 VAR_057102 p.His41Tyr LB/B rs34726242 - MAP6 Q96JE9 VAR_044542 p.Ile247Met LB/B rs12225010 - MAP7 Q14244 VAR_028880 p.Arg558Trp LB/B rs2076190 - MAP7 Q14244 VAR_034091 p.Val361Ile LB/B rs35350783 - MAP7 Q14244 VAR_034092 p.Arg526Pro LB/B rs35107962 - MAP7D1 Q3KQU3 VAR_035312 p.Arg104Trp LB/B rs2296266 - MAP7D1 Q3KQU3 VAR_053970 p.Arg531Ser LB/B rs12563354 - MAP7D2 Q96T17 VAR_035313 p.Asn182Ser LB/B rs34519770 - MAP7D2 Q96T17 VAR_035450 p.Ala32Pro US - A breast cancer sample MAP7D3 Q8IWC1 VAR_035314 p.Glu502Ala LB/B rs1055497 - MAP7D3 Q8IWC1 VAR_035315 p.Gln628Arg LB/B rs2273221 - MAP7D3 Q8IWC1 VAR_077003 p.Lys561Arg LB/B rs748582851 - MAP9 Q49MG5 VAR_027151 p.Arg177Trp LB/B rs3733391 - MAP9 Q49MG5 VAR_051152 p.Met146Val LB/B rs34082815 - MAP9 Q49MG5 VAR_051153 p.Lys499Arg LB/B rs1058992 - MAP9 Q49MG5 VAR_051154 p.Asn601Asp LB/B rs2305050 - MAPK1 P28482 VAR_085093 p.Ile74Asn LP/P - Noonan syndrome 13 (NS13) [MIM:619087] MAPK1 P28482 VAR_085094 p.His80Tyr LP/P - Noonan syndrome 13 (NS13) [MIM:619087] MAPK1 P28482 VAR_085095 p.Ala174Val LP/P - Noonan syndrome 13 (NS13) [MIM:619087] MAPK1 P28482 VAR_085096 p.Asp318Gly LP/P - Noonan syndrome 13 (NS13) [MIM:619087] MAPK1 P28482 VAR_085097 p.Asp318Asn LP/P - Noonan syndrome 13 (NS13) [MIM:619087] MAPK1 P28482 VAR_085098 p.Glu322Gln LP/P - Noonan syndrome 13 (NS13) [MIM:619087] MAPK1 P28482 VAR_085099 p.Pro323Arg LP/P - Noonan syndrome 13 (NS13) [MIM:619087] MAPK11 Q15759 VAR_025176 p.Arg275His LB/B rs33932986 - MAPK11 Q15759 VAR_042264 p.Ala221Val US - A lung neuroendocrine carcinoma sample MAPK12 P53778 VAR_012002 p.Thr244Met LB/B rs2066776 - MAPK12 P53778 VAR_042265 p.Thr103Met LB/B rs34422484 - MAPK12 P53778 VAR_042266 p.Asp230Asn LB/B rs35396905 - MAPK13 O15264 VAR_042267 p.Ser41Leu LB/B rs55776345 - MAPK13 O15264 VAR_042268 p.Ala282Val LB/B rs55990045 - MAPK13 O15264 VAR_042269 p.Ala300Thr LB/B rs41270090 - MAPK14 Q16539 VAR_042270 p.Ala51Val US - A gastric adenocarcinoma sample MAPK14 Q16539 VAR_042271 p.Pro322Arg US - A lung adenocarcinoma sample MAPK14 Q16539 VAR_042272 p.Asp343Gly LB/B rs45496794 - MAPK15 Q8TD08 VAR_061535 p.Thr221Lys LB/B rs60732298 - MAPK15 Q8TD08 VAR_061536 p.Ser505Pro LB/B rs56038219 - MAPK3 P27361 VAR_042253 p.Glu323Lys LB/B rs55859133 - MAPK4 P31152 VAR_042254 p.Val38Met LB/B rs3752087 - MAPK4 P31152 VAR_042255 p.Arg371Pro LB/B rs3752089 - MAPK6 Q16659 VAR_042256 p.Leu290Val LB/B rs35697691 - MAPK7 Q13164 VAR_042257 p.Gly550Ala LB/B rs56388327 - MAPK7 Q13164 VAR_046225 p.Arg535His LB/B - - MAPK8 P45983 VAR_042258 p.Gly171Ser US - A renal clear cell carcinoma sample MAPK8 P45983 VAR_042259 p.Gly177Arg US - A glioblastoma multiforme sample MAPK8 P45983 VAR_050592 p.Glu365Lys LB/B rs45483593 - MAPK8IP1 Q9UQF2 VAR_012243 p.Ser59Asn LP/P rs119489103 Type 2 diabetes mellitus (T2D) [MIM:125853] MAPK8IP1 Q9UQF2 VAR_049664 p.Ala322Val LB/B rs34420676 - MAPK8IP1 Q9UQF2 VAR_049665 p.Arg353Gln LB/B rs12295161 - MAPK8IP2 Q13387 VAR_049666 p.Pro743Leu LB/B rs1140555 - MAPK8IP3 Q9UPT6 VAR_049667 p.Thr753Ala LB/B rs2294619 - MAPK8IP3 Q9UPT6 VAR_082610 p.Gly400Arg US rs1596711175 Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) [MIM:618443] MAPK8IP3 Q9UPT6 VAR_082611 p.Leu444Pro LP/P rs1567198751 Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) [MIM:618443] MAPK8IP3 Q9UPT6 VAR_082612 p.Arg525Gln US rs1596780112 Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) [MIM:618443] MAPK8IP3 Q9UPT6 VAR_082613 p.Arg578Cys LP/P rs1567203083 Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) [MIM:618443] MAPK8IP3 Q9UPT6 VAR_082614 p.His994Gln US rs1163583945 Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) [MIM:618443] MAPK8IP3 Q9UPT6 VAR_082615 p.Arg1146Cys LP/P rs1567214097 Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) [MIM:618443] MAPK9 P45984 VAR_025175 p.Gly268Ala LB/B rs35693958 - MAPK9 P45984 VAR_042260 p.Val13Met US - A colorectal adenocarcinoma sample MAPK9 P45984 VAR_042261 p.Lys56Asn US - A head & Neck squamous cell carcinoma sample MAPK9 P45984 VAR_042262 p.Ala246Thr LB/B rs35421153 - MAPK9 P45984 VAR_042263 p.Arg366Ile LB/B rs55736180 - MAPKAPK2 P49137 VAR_040753 p.Ala173Gly LB/B rs35671930 - MAPKAPK2 P49137 VAR_040754 p.Ala361Ser LB/B rs55894011 - MAPKAPK3 Q16644 VAR_040755 p.Pro28Ser US rs375412266 A glioblastoma multiforme sample MAPKAPK3 Q16644 VAR_040756 p.Glu105Ala US - - MAPKAPK3 Q16644 VAR_040757 p.Asp276Tyr LB/B rs56107897 - MAPKAPK3 Q16644 VAR_077085 p.Leu173Pro LP/P rs886037913 Macular dystrophy, patterned, 3 (MDPT3) [MIM:617111] MAPKAPK5 Q8IW41 VAR_040758 p.Met67Ile LB/B rs34132040 - MAPKAPK5 Q8IW41 VAR_040759 p.Arg282Lys LB/B rs34843470 - MAPKBP1 O60336 VAR_043343 p.Tyr204Ser LB/B rs4354909 - MAPKBP1 O60336 VAR_043344 p.Leu313Val LB/B rs1201689 - MAPKBP1 O60336 VAR_043345 p.Arg1240Pro LB/B rs3959569 - MAPKBP1 O60336 VAR_077958 p.Arg544Gln US rs1057519305 Nephronophthisis 20 (NPHP20) [MIM:617271] MAPRE2 Q15555 VAR_050018 p.Tyr162Cys LB/B rs11538993 - MAPRE2 Q15555 VAR_076540 p.Asn68Ser LP/P rs864309719 Skin creases, congenital symmetric circumferential, 2 (CSCSC2) [MIM:616734] MAPRE2 Q15555 VAR_076541 p.Tyr87Cys LP/P rs864309717 Skin creases, congenital symmetric circumferential, 2 (CSCSC2) [MIM:616734] MAPRE2 Q15555 VAR_076542 p.Arg143Cys LP/P rs864309720 Skin creases, congenital symmetric circumferential, 2 (CSCSC2) [MIM:616734] MAPT P10636 VAR_010340 p.Asp285Asn LB/B rs62063786 - MAPT P10636 VAR_010341 p.Val289Ala LB/B rs62063787 - MAPT P10636 VAR_010342 p.Tyr441His LB/B rs2258689 - MAPT P10636 VAR_010343 p.Ser447Pro LB/B rs10445337 - MAPT P10636 VAR_010344 p.Lys574Thr LP/P rs63750129 Pick disease of the brain (PIDB) [MIM:172700] MAPT P10636 VAR_010345 p.Gly589Val LP/P rs63750376 Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_010346 p.Asn596Lys LP/P rs63750756 Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_010348 p.Pro618Leu LP/P rs63751273 Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_010349 p.Pro618Ser LP/P rs63751438 Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_010350 p.Ser622Asn LP/P rs63751165 Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_010351 p.Val654Met LP/P rs63750570 Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_010352 p.Gly706Arg LP/P rs63750512 Pick disease of the brain (PIDB) [MIM:172700] MAPT P10636 VAR_010353 p.Arg723Trp LB/B rs63750424 - MAPT P10636 VAR_019660 p.Arg5His LP/P rs63750959 Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_019661 p.Arg5Leu LP/P rs63750959 Progressive supranuclear palsy 1 (PSNP1) [MIM:601104] MAPT P10636 VAR_019662 p.Leu583Val LP/P rs63750349 Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_019663 p.Asn613His LP/P rs63750416 Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_019665 p.Ser637Phe LP/P rs63750635 Pick disease of the brain (PIDB) [MIM:172700] MAPT P10636 VAR_019666 p.Glu659Val LP/P rs63750711 Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_019667 p.Ser669Leu LB/B rs63750425 - MAPT P10636 VAR_019668 p.Lys686Ile LP/P rs63751264 Pick disease of the brain (PIDB) [MIM:172700] MAPT P10636 VAR_037439 p.Gly620Val LP/P rs63751391 Progressive supranuclear palsy 1 (PSNP1) [MIM:601104] MAPT P10636 VAR_037440 p.Lys634Met LP/P rs63750092 Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_056121 p.Arg370Trp LB/B rs17651549 - MAPT P10636 VAR_064622 p.Thr17Met LB/B rs144611688 - MAPT P10636 VAR_064623 p.Thr30Ala LB/B rs748728879 - MAPT P10636 VAR_064624 p.Val617Ile LB/B rs116733906 - MAPT P10636 VAR_084361 p.Gly590Arg LP/P rs1247408229 Frontotemporal dementia (FTD) [MIM:600274] MARCHF10 Q8NA82 VAR_029461 p.Gly241Glu LB/B rs17853369 - MARCHF10 Q8NA82 VAR_029462 p.Phe319Ser LB/B rs9891498 - MARCHF10 Q8NA82 VAR_029463 p.Glu742Lys LB/B rs16946335 - MARCHF2 Q9P0N8 VAR_030303 p.Ala54Thr LB/B rs1133893 - MARCHF2 Q9P0N8 VAR_053638 p.Arg219Pro LB/B rs34099346 - MARCHF3 Q86UD3 VAR_053639 p.Arg68Gln LB/B rs34821177 - MARCHF6 O60337 VAR_030251 p.Pro622Leu LB/B rs1062914 - MARCHF7 Q9H992 VAR_030284 p.Thr100Ser LB/B rs17813964 - MARCHF7 Q9H992 VAR_030285 p.Thr193Ile LB/B rs16844275 - MARCHF7 Q9H992 VAR_030286 p.Gly379Ser LB/B rs13024801 - MARCHF8 Q5T0T0 VAR_030266 p.Pro92Ser LB/B rs3764990 - MARCHF8 Q5T0T0 VAR_030267 p.Tyr266His LB/B rs7908745 - MARCHF9 Q86YJ5 VAR_030246 p.Gln257His LB/B rs17856312 - MARCHF9 Q86YJ5 VAR_030247 p.Thr307Pro LB/B rs17850517 - MARCKS P29966 VAR_025825 p.Pro250Leu LB/B rs45593337 - MARCKS P29966 VAR_025826 p.Ala274Val LB/B rs3734458 - MARCO Q9UEW3 VAR_024650 p.Phe282Ser LB/B rs6761637 - MARK1 Q9P0L2 VAR_030018 p.Arg645Gly LB/B rs12123778 - MARK1 Q9P0L2 VAR_040760 p.Tyr233Cys US - A gastric adenocarcinoma sample MARK1 Q9P0L2 VAR_040761 p.Asn355Thr US - An ovarian serous carcinoma sample MARK1 Q9P0L2 VAR_040762 p.Val530Met LB/B rs56212551 - MARK1 Q9P0L2 VAR_040763 p.Pro578Leu LB/B rs55691439 - MARK1 Q9P0L2 VAR_040764 p.Glu691Gly LB/B rs55688276 - MARK3 P27448 VAR_040765 p.Val429Ala LB/B - - MARK3 P27448 VAR_046763 p.Ser443Gly LB/B rs56305318 - MARK3 P27448 VAR_080189 p.Ser410Phe LB/B rs10137161 - MARK3 P27448 VAR_080778 p.Arg570Gly LP/P rs376395495 Visual impairment and progressive phthisis bulbi (VIPB) [MIM:618283] MARK4 Q96L34 VAR_040766 p.Arg377Gln LB/B rs35070611 - MARK4 Q96L34 VAR_040767 p.Arg418Cys US rs780763668 A colorectal adenocarcinoma sample MARS1 P56192 VAR_020459 p.Ala683Asp LB/B rs1054403 - MARS1 P56192 VAR_070872 p.Phe370Leu LP/P rs140467171 Interstitial lung and liver disease (ILLD) [MIM:615486] MARS1 P56192 VAR_070873 p.Ile523Thr LP/P rs201555303 Interstitial lung and liver disease (ILLD) [MIM:615486] MARS1 P56192 VAR_073377 p.Arg618Cys LP/P rs587777718 Charcot-Marie-Tooth disease, axonal, 2U (CMT2U) [MIM:616280] MARS1 P56192 VAR_073378 p.Pro800Thr LP/P rs781249411 Charcot-Marie-Tooth disease, axonal, 2U (CMT2U) [MIM:616280] MARS1 P56192 VAR_075360 p.Pro206Leu LB/B rs138776588 - MARS1 P56192 VAR_075361 p.Tyr344Cys LP/P rs766466297 Interstitial lung and liver disease (ILLD) [MIM:615486] MARS1 P56192 VAR_075362 p.Ala393Thr LP/P rs141340466 Interstitial lung and liver disease (ILLD) [MIM:615486] MARS1 P56192 VAR_075363 p.Ser567Leu LP/P rs143592405 Interstitial lung and liver disease (ILLD) [MIM:615486] MARS1 P56192 VAR_075364 p.Asp605Val LP/P rs756021768 Interstitial lung and liver disease (ILLD) [MIM:615486] MARS1 P56192 VAR_075365 p.Arg727Gln LB/B rs113808165 - MARS1 P56192 VAR_077848 p.Val5Met US rs587777227 - MARS1 P56192 VAR_077849 p.Arg702Trp US rs587777228 - MARS1 P56192 VAR_086779 p.Val401Met US rs774447812 Trichothiodystrophy 9, non-photosensitive (TTD9) [MIM:619692] MARS1 P56192 VAR_088477 p.Cys389Tyr US - Spastic paraplegia 70, autosomal recessive (SPG70) [MIM:620323] MARS1 P56192 VAR_088478 p.Arg625Trp US - Spastic paraplegia 70, autosomal recessive (SPG70) [MIM:620323] MARS2 Q96GW9 VAR_073858 p.Arg142Trp LP/P rs794726870 Combined oxidative phosphorylation deficiency 25 (COXPD25) [MIM:616430] MARVELD2 Q8N4S9 VAR_047436 p.Thr33Ile LB/B rs1185246 - MARVELD3 Q96A59 VAR_029893 p.Glu60Lys LB/B rs4788821 - MAS1L P35410 VAR_049416 p.Asp288Glu LB/B rs17184100 - MASP1 P48740 VAR_051831 p.Thr21Ile LB/B rs1062049 - MASP1 P48740 VAR_051832 p.Val568Ala LB/B rs13322090 - MASP1 P48740 VAR_051833 p.Gly679Arg LB/B rs3774266 - MASP2 O00187 VAR_025344 p.Arg99Gln LB/B rs61735600 - MASP2 O00187 VAR_025345 p.Arg118Cys LB/B rs147270785 - MASP2 O00187 VAR_025346 p.Asp120Gly US rs72550870 MASP2 deficiency (MASPD) [MIM:613791] MASP2 O00187 VAR_025347 p.Pro126Leu LP/P rs56392418 MASP2 deficiency (MASPD) [MIM:613791] MASP2 O00187 VAR_028784 p.His155Arg LB/B rs2273343 - MASP2 O00187 VAR_028785 p.Asp371Tyr LB/B rs12711521 - MASP2 O00187 VAR_028786 p.Val377Ala LB/B rs2273346 - MASP2 O00187 VAR_028787 p.Arg439His LB/B rs12085877 - MASP2 O00187 VAR_075087 p.Thr128Met LB/B rs141145402 - MASP2 O00187 VAR_075088 p.Val405Met LB/B rs61735594 - MAST1 Q9Y2H9 VAR_040768 p.Ala269Thr US - A metastatic melanoma sample MAST1 Q9Y2H9 VAR_040769 p.His1240Tyr US rs1411105125 An ovarian serous carcinoma sample MAST1 Q9Y2H9 VAR_040770 p.Pro1292Ser LB/B rs35071862 - MAST1 Q9Y2H9 VAR_051644 p.Ala1048Ser LB/B rs35052801 - MAST1 Q9Y2H9 VAR_081872 p.Ser93Leu US rs878853165 - MAST1 Q9Y2H9 VAR_081873 p.Gly98Val US - - MAST1 Q9Y2H9 VAR_081877 p.Gly517Ser LP/P rs1568413207 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) [MIM:618273] MAST1 Q9Y2H9 VAR_081878 p.Ala915Thr US - - MAST1 Q9Y2H9 VAR_081879 p.Pro1177Arg US - - MAST2 Q6P0Q8 VAR_040771 p.Leu69Phe LB/B rs55914403 - MAST2 Q6P0Q8 VAR_040772 p.Lys275Glu US - An ovarian mucinous carcinoma sample MAST2 Q6P0Q8 VAR_040773 p.Asp388Glu LB/B rs11211247 - MAST2 Q6P0Q8 VAR_040774 p.Gly655Ala US - A breast mucinous carcinoma sample MAST2 Q6P0Q8 VAR_040775 p.Ile659Met LB/B rs1707336 - MAST2 Q6P0Q8 VAR_040776 p.Arg991Leu LB/B rs56114653 - MAST2 Q6P0Q8 VAR_040777 p.Lys1197Arg LB/B rs1052607 - MAST2 Q6P0Q8 VAR_040778 p.Asp1221Glu LB/B rs56060730 - MAST2 Q6P0Q8 VAR_040779 p.Arg1246Leu LB/B rs56309943 - MAST2 Q6P0Q8 VAR_040780 p.Val1304Met LB/B rs33931638 - MAST2 Q6P0Q8 VAR_040781 p.Ala1463Thr LB/B rs3737738 - MAST2 Q6P0Q8 VAR_040782 p.Gly1468Ala LB/B rs3737737 - MAST2 Q6P0Q8 VAR_040783 p.Asp1551Gly LB/B rs1052610 - MAST2 Q6P0Q8 VAR_040784 p.Lys1673Arg LB/B rs34070850 - MAST2 Q6P0Q8 VAR_040785 p.Gly1703Glu LB/B - - MAST2 Q6P0Q8 VAR_051645 p.Thr1608Ile LB/B rs35474583 - MAST3 O60307 VAR_040786 p.Gly883Ser LB/B rs369960905 - MAST3 O60307 VAR_051646 p.Arg203Gln LB/B rs35945810 - MAST3 O60307 VAR_051647 p.Gly861Ser LB/B rs8108738 - MAST3 O60307 VAR_087834 p.Ser101Phe US - Developmental and epileptic encephalopathy 108 (DEE108) [MIM:620115] MAST3 O60307 VAR_087835 p.Ser104Leu LP/P - Developmental and epileptic encephalopathy 108 (DEE108) [MIM:620115] MAST3 O60307 VAR_087836 p.Arg406Pro LP/P - Developmental and epileptic encephalopathy 108 (DEE108) [MIM:620115] MAST3 O60307 VAR_087837 p.Gly510Ser LP/P rs1478088223 Developmental and epileptic encephalopathy 108 (DEE108) [MIM:620115] MAST3 O60307 VAR_087838 p.Gly515Ser LP/P - Developmental and epileptic encephalopathy 108 (DEE108) [MIM:620115] MAST3 O60307 VAR_087839 p.Leu516Pro LP/P - Developmental and epileptic encephalopathy 108 (DEE108) [MIM:620115] MAST3 O60307 VAR_087840 p.Val551Leu US - Developmental and epileptic encephalopathy 108 (DEE108) [MIM:620115] MAST3 O60307 VAR_087841 p.Phe655Leu US - - MAST4 O15021 VAR_040787 p.Gln920Arg LB/B - - MAST4 O15021 VAR_040788 p.Arg1954Trp LB/B - - MAST4 O15021 VAR_040789 p.Pro2198Leu LB/B rs752429440 - MAST4 O15021 VAR_040790 p.Ser2290Cys LB/B - - MAST4 O15021 VAR_040791 p.Glu2467Asp US - A lung squamous cell carcinoma sample MAST4 O15021 VAR_059768 p.Ala77Pro LB/B rs6867856 - MASTL Q96GX5 VAR_022838 p.Glu167Asp US rs28941470 - MASTL Q96GX5 VAR_022839 p.Pro620Ala LB/B rs3802526 - MASTL Q96GX5 VAR_040792 p.Thr337Lys LB/B rs36121140 - MASTL Q96GX5 VAR_040793 p.Val610Ile LB/B rs35571315 - MASTL Q96GX5 VAR_057103 p.Asp606Tyr LB/B rs35413630 - MAT1A Q00266 VAR_006935 p.Ala55Asp LP/P rs118204002 Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_006936 p.Arg199Cys LP/P rs773267230 Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_006937 p.Arg264His LP/P rs72558181 Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_006938 p.Leu305Pro LP/P rs118204004 Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_006939 p.Ile322Met LP/P rs118204001 Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_006940 p.Arg356Gln LP/P rs138742870 Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_006941 p.Pro357Leu LP/P rs118204003 Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_006942 p.Gly378Ser LP/P rs1170028069 Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_028944 p.Gln119His LB/B rs1143693 - MAT1A Q00266 VAR_031242 p.Ser38Asn LP/P - Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_031243 p.Arg264Cys LP/P rs118204005 Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_031244 p.Gly336Arg LP/P rs118204006 Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_031245 p.Glu344Ala LP/P - Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT2B Q9NZL9 VAR_032318 p.Ala293Thr LB/B rs17849948 - MATK P42679 VAR_041679 p.Ala354Thr US - An ovarian mucinous carcinoma sample MATK P42679 VAR_041680 p.Ala496Thr LB/B rs35351680 - MATK P42679 VAR_041681 p.Arg503Gln US rs778726488 A colorectal adenocarcinoma sample MATN2 O00339 VAR_021568 p.Lys356Glu LB/B rs1869609 - MATN2 O00339 VAR_055753 p.Gly14Ala LB/B rs35804177 - MATN2 O00339 VAR_055754 p.Thr187Met LB/B rs2290472 - MATN2 O00339 VAR_055755 p.Ala599Thr LB/B rs35120814 - MATN2 O00339 VAR_055756 p.Thr855Met LB/B rs2255317 - MATN2 O00339 VAR_055757 p.Val932Ile LB/B rs17831160 - MATN3 O15232 VAR_013691 p.Arg121Trp LP/P rs104893637 Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_013692 p.Val194Asp LP/P rs104893645 Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_015852 p.Thr303Met LB/B rs77245812 - MATN3 O15232 VAR_019881 p.Pro11Ser LB/B rs963330242 - MATN3 O15232 VAR_019882 p.Thr120Met LP/P rs397515546 Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_019883 p.Ala128Pro LP/P rs104893641 Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_019884 p.Glu134Lys LP/P - Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_019885 p.Ile192Asn LP/P - Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_019886 p.Ala219Asp LP/P rs28939677 Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_019887 p.Glu252Lys LB/B rs52826764 - MATN3 O15232 VAR_019888 p.Cys304Ser LP/P rs104893639 Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (SEMDBCD) [MIM:608728] MATN3 O15232 VAR_020844 p.Phe105Ser LP/P - Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_054807 p.Arg70His LP/P rs104893640 Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_054808 p.Thr195Lys LP/P - Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_054809 p.Tyr218Asn LP/P - Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_066831 p.Ala173Asp LP/P rs779413744 Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_066832 p.Arg209Pro LP/P rs749845872 Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_066833 p.Lys231Asn LP/P rs773642745 Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_066834 p.Val245Met LP/P rs182164052 Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] MATN4 O95460 VAR_055758 p.Leu13Phe LB/B rs2743307 - MATN4 O95460 VAR_055759 p.Arg164Ser LB/B rs2072788 - MATR3 P43243 VAR_063421 p.Ser85Cys LP/P rs121434591 Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070] MATR3 P43243 VAR_071078 p.Phe115Cys LP/P rs587777300 Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070] MATR3 P43243 VAR_071079 p.Pro154Ser US rs587777302 Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070] MATR3 P43243 VAR_071080 p.Thr622Ala LP/P rs587777301 Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070] MATR3 P43243 VAR_074067 p.Ala72Thr US - Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070] MATR3 P43243 VAR_074068 p.Ile89Val LB/B rs528548235 - MATR3 P43243 VAR_074069 p.Glu664Ala LB/B rs139589527 - MATR3 P43243 VAR_074070 p.Asn787Ser LB/B rs148402819 - MATR3 P43243 VAR_078513 p.Arg147Trp US - Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070] MAVS Q7Z434 VAR_018448 p.Ser409Phe LB/B rs7269320 - MAVS Q7Z434 VAR_048609 p.Cys79Phe LB/B rs11905552 - MAVS Q7Z434 VAR_048610 p.Gln93Glu LB/B rs17857295 - MAVS Q7Z434 VAR_048611 p.Gln198Lys LB/B rs7262903 - MAVS Q7Z434 VAR_059197 p.Cys79Ser LB/B rs11908032 - MAX P61244 VAR_079347 p.Val9Leu LP/P rs201743423 Pheochromocytoma (PCC) [MIM:171300] MAX P61244 VAR_079348 p.Asp23Asn US - Pheochromocytoma (PCC) [MIM:171300] MAX P61244 VAR_079349 p.Arg25Trp LP/P - Pheochromocytoma (PCC) [MIM:171300] MAX P61244 VAR_079351 p.Arg35Cys LP/P - Pheochromocytoma (PCC) [MIM:171300] MAX P61244 VAR_079353 p.Arg60Trp LP/P rs2063106124 Pheochromocytoma (PCC) [MIM:171300] MAX P61244 VAR_079354 p.Ile71Ser LP/P - Pheochromocytoma (PCC) [MIM:171300] MAX P61244 VAR_079355 p.Met74Val LP/P - Pheochromocytoma (PCC) [MIM:171300] MAX P61244 VAR_079358 p.Arg90Pro LP/P - Pheochromocytoma (PCC) [MIM:171300] MAX P61244 VAR_079359 p.Leu94Pro LP/P - Pheochromocytoma (PCC) [MIM:171300] MAX P61244 VAR_079360 p.Leu102Pro LP/P - Pheochromocytoma (PCC) [MIM:171300] MAX P61244 VAR_079361 p.Asn114Thr LB/B rs772912674 - MAX P61244 VAR_079362 p.Ser142Leu LB/B rs760147253 - MB P02144 VAR_003180 p.Glu55Lys LB/B rs145465287 - MB P02144 VAR_003181 p.Lys134Asn LB/B rs766095327 - MB P02144 VAR_003182 p.Arg140Gln LB/B rs142225854 - MB P02144 VAR_003183 p.Arg140Trp LB/B rs767663245 - MB P02144 VAR_088618 p.His98Tyr LP/P - Myopathy, sarcoplasmic body (MYOSB) [MIM:620286] MB21D2 Q8IYB1 VAR_085526 p.Gln311Glu LB/B rs988241015 - MBD1 Q9UIS9 VAR_019513 p.Pro401Ala LB/B rs125555 - MBD3L1 Q8WWY6 VAR_051155 p.Arg190Cys LB/B rs2972588 - MBD4 O95243 VAR_019357 p.Ala273Ser LB/B rs10342 - MBD4 O95243 VAR_019358 p.Ser342Pro LB/B rs2307289 - MBD4 O95243 VAR_019359 p.Glu346Lys LB/B rs140693 - MBD4 O95243 VAR_019360 p.Asp568His LB/B rs2307293 - MBD4 O95243 VAR_019514 p.Ala273Thr LB/B rs10342 - MBD4 O95243 VAR_019515 p.Ile358Thr LB/B rs2307298 - MBD4 O95243 VAR_029306 p.Cys61Arg LB/B rs2307296 - MBD4 O95243 VAR_087526 p.Arg468Trp LP/P rs1380952147 Melanoma, uveal, 1 (UVM1) [MIM:606660] MBD5 Q9P267 VAR_037561 p.Thr144Ile US rs1553518402 Intellectual developmental disorder, autosomal dominant 1 (MRD1) [MIM:156200] MBD5 Q9P267 VAR_037562 p.Arg461His US rs139964770 Intellectual developmental disorder, autosomal dominant 1 (MRD1) [MIM:156200] MBD5 Q9P267 VAR_037563 p.Asp654Glu US rs139953766 Intellectual developmental disorder, autosomal dominant 1 (MRD1) [MIM:156200] MBD5 Q9P267 VAR_037564 p.Ala655Thr US rs576930680 Intellectual developmental disorder, autosomal dominant 1 (MRD1) [MIM:156200] MBD5 Q9P267 VAR_037565 p.Ser677Asn LB/B rs114314967 - MBD5 Q9P267 VAR_037566 p.Ala857Thr US rs769330358 Intellectual developmental disorder, autosomal dominant 1 (MRD1) [MIM:156200] MBD5 Q9P267 VAR_037567 p.Thr1048Ile US rs145475623 Intellectual developmental disorder, autosomal dominant 1 (MRD1) [MIM:156200] MBIP Q9NS73 VAR_018449 p.Leu7His LB/B rs2899849 - MBIP Q9NS73 VAR_034093 p.Arg22Ser LB/B rs3168891 - MBL2 P11226 VAR_004182 p.Gly54Asp LB/B rs1800450 - MBL2 P11226 VAR_004183 p.Gly57Glu LB/B rs1800451 - MBL2 P11226 VAR_008543 p.Arg52Cys LB/B rs5030737 - MBL2 P11226 VAR_013294 p.Thr24Ala US - - MBL2 P11226 VAR_050119 p.Asn214Tyr LB/B rs12260094 - MBLAC1 A4D2B0 VAR_043567 p.Pro79His LB/B rs17852945 - MBLAC1 A4D2B0 VAR_043568 p.His114Asn LB/B rs17852946 - MBLAC2 Q68D91 VAR_039956 p.Thr128Ala LB/B rs2162986 - MBNL1 Q9NR56 VAR_076508 p.Thr32Met US rs185894411 Dystrophia myotonica 1 (DM1) [MIM:160900] MBNL1 Q9NR56 VAR_076510 p.Pro338Ser US - Dystrophia myotonica 1 (DM1) [MIM:160900] MBOAT1 Q6ZNC8 VAR_050025 p.Ile450Val LB/B rs2065649 - MBOAT2 Q6ZWT7 VAR_030068 p.Thr501Ala LB/B rs16866827 - MBOAT4 Q96T53 VAR_030069 p.Gly231Glu LB/B rs16876563 - MBOAT4 Q96T53 VAR_059434 p.Thr46Ala LB/B rs7813902 - MBOAT7 Q96N66 VAR_038526 p.Phe261Leu LB/B rs17855385 - MBOAT7 Q96N66 VAR_038527 p.Val415Leu LB/B rs35909464 - MBTPS1 Q14703 VAR_051822 p.Ile6Thr LB/B rs34701895 - MBTPS1 Q14703 VAR_051823 p.Arg90Gly LB/B rs34076105 - MBTPS1 Q14703 VAR_082197 p.Asp365Gly LP/P rs1226321681 Spondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF) [MIM:618392] MBTPS1 Q14703 VAR_087565 p.Ser878Arg US - Spondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF) [MIM:618392] MBTPS2 O43462 VAR_063054 p.Met87Ile LP/P rs122468177 IFAP syndrome 1, with or without Bresheck syndrome (IFAP1) [MIM:308205] MBTPS2 O43462 VAR_063055 p.Trp226Leu LP/P rs122468180 IFAP syndrome 1, with or without Bresheck syndrome (IFAP1) [MIM:308205] MBTPS2 O43462 VAR_063056 p.His227Leu LP/P rs122468176 IFAP syndrome 1, with or without Bresheck syndrome (IFAP1) [MIM:308205] MBTPS2 O43462 VAR_063057 p.Arg429His LP/P rs122468178 IFAP syndrome 1, with or without Bresheck syndrome (IFAP1) [MIM:308205] MBTPS2 O43462 VAR_063058 p.Phe475Ser LP/P rs122468179 IFAP syndrome 1, with or without Bresheck syndrome (IFAP1) [MIM:308205] MBTPS2 O43462 VAR_064409 p.Asn508Ser LP/P rs587776867 Keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800] MBTPS2 O43462 VAR_071323 p.Phe464Ser LP/P rs587777306 Olmsted syndrome, X-linked (OLMSX) [MIM:300918] MBTPS2 O43462 VAR_081103 p.Asn459Ser LP/P rs1555986267 Osteogenesis imperfecta 19 (OI19) [MIM:301014] MBTPS2 O43462 VAR_081104 p.Leu505Phe LP/P rs1555986287 Osteogenesis imperfecta 19 (OI19) [MIM:301014] MC1R Q01726 VAR_003507 p.Asp84Glu LB/B rs1805006 - MC1R Q01726 VAR_003508 p.Val92Met LB/B rs2228479 - MC1R Q01726 VAR_008522 p.Arg151Cys LB/B rs1805007 - MC1R Q01726 VAR_008523 p.Arg160Trp LB/B rs1805008 - MC1R Q01726 VAR_008524 p.Asp294His LB/B rs1805009 - MC1R Q01726 VAR_009522 p.Arg67Gln LB/B rs34090186 - MC1R Q01726 VAR_009523 p.Arg163Gln LB/B rs885479 - MC1R Q01726 VAR_013611 p.Ile40Thr LB/B rs748138541 - MC1R Q01726 VAR_013612 p.Val60Leu LB/B rs1805005 - MC1R Q01726 VAR_013613 p.Val122Met LB/B rs201192930 - MC1R Q01726 VAR_013614 p.Ile155Thr LB/B rs1110400 - MC1R Q01726 VAR_013615 p.Val156Leu LB/B rs3212365 - MC1R Q01726 VAR_013616 p.Phe196Leu LB/B rs3212366 - MC1R Q01726 VAR_013632 p.Arg162Pro LB/B - - MC1R Q01726 VAR_042654 p.Gly89Arg LB/B rs34540312 - MC1R Q01726 VAR_042655 p.Thr95Met LB/B rs34158934 - MC1R Q01726 VAR_042656 p.Gly104Ser LB/B rs2229617 - MC1R Q01726 VAR_042657 p.Ile120Thr LB/B rs33932559 - MC1R Q01726 VAR_042659 p.Thr157Ile LB/B rs104894524 - MC1R Q01726 VAR_042660 p.Pro159Thr LB/B rs104894523 - MC1R Q01726 VAR_042661 p.Ala166Gly LB/B rs35040147 - MC1R Q01726 VAR_042662 p.Ala171Ser LB/B rs35784916 - MC1R Q01726 VAR_059018 p.Val38Met LP/P rs200050206 Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099] MC1R Q01726 VAR_059019 p.Ser41Phe LP/P - Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099] MC1R Q01726 VAR_059020 p.Val51Ala LP/P rs766080391 Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099] MC1R Q01726 VAR_059021 p.Leu93Arg US - - MC1R Q01726 VAR_059022 p.Met128Thr LP/P rs374235260 Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099] MC1R Q01726 VAR_059023 p.Arg142His LB/B rs11547464 - MC1R Q01726 VAR_059024 p.Asn281Ser LB/B rs141177570 - MC1R Q01726 VAR_059025 p.Cys289Arg LP/P rs369542041 Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099] MC2R Q01718 VAR_003509 p.Pro27Arg LB/B rs28926178 - MC2R Q01718 VAR_003510 p.Ser74Ile LP/P rs104894658 Glucocorticoid deficiency 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_003511 p.Ser120Arg LP/P rs104894656 Glucocorticoid deficiency 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_003512 p.Arg128Cys LP/P rs104894657 Glucocorticoid deficiency 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_003513 p.Arg146His LP/P rs758709668 Glucocorticoid deficiency 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_010702 p.Asp103Asn LP/P rs768093045 Glucocorticoid deficiency 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_010703 p.Arg137Trp LP/P rs104894660 Glucocorticoid deficiency 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_015095 p.Asp107Asn LP/P rs104894661 Glucocorticoid deficiency 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_015096 p.Cys251Phe LP/P rs104894662 Glucocorticoid deficiency 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_015295 p.Tyr254Cys LP/P rs28940892 Glucocorticoid deficiency 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_049369 p.Phe278Cys LB/B rs28926182 - MC2R Q01718 VAR_064986 p.Arg137Pro LB/B rs1208417750 - MC3R P41968 VAR_020070 p.Val44Ile LB/B rs3827103 - MC3R P41968 VAR_055000 p.Ile146Asn LB/B rs74315393 - MC3R P41968 VAR_055001 p.Ile298Ser LB/B rs121913556 - MC4R P32245 VAR_010704 p.Ser30Phe LP/P rs13447323 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_010705 p.Asp37Val LP/P rs13447325 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_010706 p.Pro78Leu LP/P rs13447326 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_010707 p.Val103Ile LB/B rs2229616 - MC4R P32245 VAR_010708 p.Thr112Met LB/B rs13447329 - MC4R P32245 VAR_010709 p.Arg165Trp LP/P rs13447332 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_010710 p.Ile251Leu LB/B rs52820871 - MC4R P32245 VAR_010711 p.Gly252Ser LP/P rs13447336 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_010712 p.Ile317Thr LP/P rs13447337 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_015357 p.Asn274Ser LP/P rs121913561 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038632 p.Thr11Ala LP/P rs372794914 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038633 p.Ser36Tyr LP/P - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038634 p.Val50Met LP/P rs121913557 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038635 p.Ser58Cys LP/P rs121913558 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038636 p.Asn62Ser LP/P rs121913566 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038638 p.Asn97Asp LP/P rs121913565 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038639 p.Ile102Ser LP/P rs121913559 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038640 p.Ile102Thr LP/P rs121913559 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038641 p.Leu106Pro LP/P - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038642 p.Ile125Lys LP/P - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038643 p.Ser127Leu LP/P rs13447331 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038644 p.Arg165Gln LP/P rs747681609 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038645 p.Ile170Val LP/P rs121913560 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038646 p.Ala175Thr LP/P rs121913563 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038647 p.Gly181Asp LP/P rs13447333 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038648 p.Ala219Val LP/P rs121913567 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038649 p.Ile226Thr LB/B rs193922686 - MC4R P32245 VAR_038650 p.Val253Ile LP/P rs187152753 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038651 p.Cys271Arg LP/P rs1057517991 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038652 p.Cys271Tyr LP/P rs121913562 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038653 p.Ile316Ser LP/P rs121913564 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038654 p.Leu325Phe LP/P - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_077570 p.Asn72Lys LP/P - Obesity (OBESITY) [MIM:601665] MC5R P33032 VAR_013128 p.Phe209Leu LB/B rs2236700 - MCAM P43121 VAR_049915 p.Glu89Gly LB/B rs34587557 - MCAT Q8IVS2 VAR_048183 p.Ala303Gly LB/B rs13815 - MCC P23508 VAR_005141 p.Arg267Leu US - A colorectal cancer sample MCC P23508 VAR_005142 p.Pro486Leu US rs35269015 A colorectal cancer sample MCC P23508 VAR_005143 p.Ser490Leu US rs760495893 A colorectal cancer sample MCC P23508 VAR_005144 p.Arg506Gln US rs121917732 Colorectal cancer samples MCC P23508 VAR_005145 p.Ala698Val US rs121917731 Colorectal cancer samples MCC P23508 VAR_033753 p.Ser751Cys LB/B rs17313892 - MCC P23508 VAR_050905 p.Lys190Arg LB/B rs6594681 - MCC P23508 VAR_079267 p.Glu142Lys LB/B rs185322500 - MCCC1 Q96RQ3 VAR_012785 p.Ala289Val LP/P rs1326114075 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_012786 p.Met325Arg LP/P rs119103212 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_012787 p.Arg385Ser LP/P rs119103213 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_012788 p.Leu437Pro LP/P rs119103215 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_012789 p.His464Pro LB/B rs2270968 - MCCC1 Q96RQ3 VAR_012790 p.Asp532His LP/P rs119103214 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_012791 p.Ser535Phe LP/P rs119103216 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_038631 p.Asn560Thr LB/B rs35219417 - MCCC1 Q96RQ3 VAR_067197 p.Cys276Arg LP/P rs773433541 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_067198 p.Arg281Gln LP/P rs754437245 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072486 p.Gly46Glu LP/P rs199517715 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072487 p.Asn56Lys LP/P rs1057520695 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072488 p.Met65Leu LP/P - 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072489 p.Gln123His LP/P - 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072490 p.Ile125Met LP/P - 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072491 p.Glu134Lys LP/P rs1229069160 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072492 p.Met160Arg LP/P - 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072493 p.Gly180Val LP/P rs748201122 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072494 p.Ser187Pro LP/P rs757362635 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072495 p.Arg232Trp LP/P rs727504004 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072496 p.Ala268Asp LP/P - 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072497 p.Glu288Gly LP/P rs746500530 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072498 p.Ala291Val LP/P rs201041864 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072499 p.Gln372Pro LP/P rs755328329 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072500 p.Gly379Asp LP/P - 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072501 p.Gly379Ser LP/P rs887877405 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072502 p.His380Pro LP/P rs794727036 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072503 p.Ile434Met LP/P rs376289130 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072504 p.Val439Met LP/P rs398124352 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_072505 p.Ile460Met LP/P rs119103218 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_077284 p.Tyr79Cys LP/P - 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_077285 p.Ser120Phe LP/P rs1307589698 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_077286 p.Gly130Ser LP/P rs202197951 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_077287 p.Gly209Val LP/P rs186209189 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_077288 p.Glu366Lys US rs201386261 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_077289 p.Glu383Lys US rs1333357031 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_077290 p.Arg444His LP/P rs768785753 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_079752 p.Pro632Ser LB/B rs142867987 - MCCC2 Q9HCC0 VAR_012792 p.Glu99Gln LP/P rs119103219 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012793 p.Arg155Gln LP/P rs119103220 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012794 p.Cys167Arg LP/P rs119103222 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012795 p.Ser173Leu LP/P rs752866557 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012796 p.Arg193Cys LP/P rs547662164 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012797 p.Ala218Thr LP/P rs886043524 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012798 p.Arg268Thr LP/P rs119103223 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012799 p.Pro310Arg LP/P rs119103221 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012800 p.Val339Met LP/P rs150591260 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012801 p.Ile437Val LP/P rs119103224 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_038630 p.Ala478Gly LB/B rs35068278 - MCCC2 Q9HCC0 VAR_067199 p.Asp280Tyr LP/P rs119103226 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_067200 p.Pro459Ser LP/P rs754741111 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072507 p.Ser39Phe LP/P rs398124371 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072508 p.Ser101Phe LP/P rs748028684 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072510 p.Cys131Phe LP/P - 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072511 p.Tyr146Asn LP/P - 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072512 p.Lys152Thr LP/P rs1554134065 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072513 p.Arg155Trp LP/P rs141030969 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072514 p.Tyr169Asp LP/P - 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072515 p.His190Arg LP/P rs119103225 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072516 p.His190Tyr LP/P rs773774134 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072517 p.Arg193His LP/P rs535519604 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072518 p.Ile200Asn US rs140806722 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072519 p.Ala218Val LP/P rs760420191 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072520 p.Gly220Glu LP/P rs1254750166 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072521 p.Pro224Leu LP/P rs1195601465 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072522 p.Gly237Asp LP/P - 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072523 p.His266Leu LP/P - 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072525 p.His282Arg LP/P - 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072526 p.Asp340Val LP/P rs398124370 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072527 p.Gly352Arg LP/P rs765438239 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072528 p.Leu355Phe LP/P rs757052602 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072529 p.Val375Phe LP/P - 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072530 p.Asn403Thr LP/P rs142887940 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072531 p.Val434Leu LP/P rs758506791 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072532 p.Ala456Val LP/P rs727504011 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072533 p.Gly475Arg LP/P rs148773718 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072534 p.Gln477Arg LP/P rs769558016 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072535 p.Gly517Arg LP/P rs979584886 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072536 p.Tyr520Ser LP/P rs150327768 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072537 p.Ser523Gly LP/P rs1459143051 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_072538 p.Lys555Glu LP/P rs1257849672 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_077291 p.Gly68Val US rs1187203558 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_077292 p.Gly105Arg US - 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_077293 p.Thr139Ile LP/P - 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_077294 p.Asn163Asp US - 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_077295 p.Gly214Ala LP/P rs277995 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_077296 p.Cys216Trp LP/P - 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_077297 p.Asn230Asp LP/P rs766753795 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_077298 p.Tyr318Cys LP/P rs773115035 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_077299 p.Gly319Arg LP/P rs1443551700 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_077300 p.Phe387Val US rs1450515408 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_077301 p.Gln393Pro LP/P rs750782118 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_077302 p.Gly410Asp LP/P rs771440617 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_077303 p.Gly410Arg LP/P - 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_077304 p.Ile441Thr US rs139852818 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_077305 p.Phe461Val LP/P - 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_077306 p.Ala524Thr LP/P rs774241918 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCD1 P59942 VAR_017161 p.Glu42Lys LB/B rs2259435 - MCCD1 P59942 VAR_017162 p.Ser45Asn LB/B rs3093983 - MCCD1 P59942 VAR_017163 p.Thr53Met LB/B rs78957773 - MCEE Q96PE7 VAR_019511 p.Arg104Leu LB/B rs6748672 - MCEE Q96PE7 VAR_049248 p.Ala76Val LB/B rs11541017 - MCEMP1 Q8IX19 VAR_030180 p.Ile167Val LB/B rs72996468 - MCEMP1 Q8IX19 VAR_051159 p.Leu175Val LB/B rs10409343 - MCEMP1 Q8IX19 VAR_059697 p.Val129Ile LB/B rs8111596 - MCF2L2 Q86YR7 VAR_043587 p.Thr159Met LB/B rs12632177 - MCF2L2 Q86YR7 VAR_043588 p.Leu254Pro US - A colorectal cancer sample MCF2L2 Q86YR7 VAR_043589 p.Asn277Ser LB/B rs13082605 - MCF2L2 Q86YR7 VAR_043590 p.Ile359Leu LB/B rs7639705 - MCF2L2 Q86YR7 VAR_043591 p.Gln378Leu LB/B rs2293203 - MCF2L2 Q86YR7 VAR_043592 p.Phe589Ser LB/B rs3732602 - MCF2L2 Q86YR7 VAR_043593 p.Arg622His US rs767614039 A colorectal cancer sample MCF2L2 Q86YR7 VAR_043594 p.Phe772Leu LB/B rs9826325 - MCF2L2 Q86YR7 VAR_043595 p.Thr902Ala LB/B rs6804951 - MCF2L2 Q86YR7 VAR_043596 p.Met1015Thr LB/B rs35070271 - MCF2L2 Q86YR7 VAR_043597 p.Leu1039Phe US rs1560327395 A breast cancer sample MCFD2 Q8NI22 VAR_019076 p.Asp129Glu LP/P rs137852913 Factor V and factor VIII combined deficiency 2 (F5F8D2) [MIM:613625] MCFD2 Q8NI22 VAR_019077 p.Ile136Thr LP/P rs137852914 Factor V and factor VIII combined deficiency 2 (F5F8D2) [MIM:613625] MCFD2 Q8NI22 VAR_072245 p.Asp81His LP/P rs78289603 Factor V and factor VIII combined deficiency 2 (F5F8D2) [MIM:613625] MCFD2 Q8NI22 VAR_072246 p.Tyr135Asn LP/P rs748641905 Factor V and factor VIII combined deficiency 2 (F5F8D2) [MIM:613625] MCHR1 Q99705 VAR_026655 p.Arg141His LB/B rs750210146 - MCHR1 Q99705 VAR_026656 p.Tyr181His LB/B - - MCHR1 Q99705 VAR_026657 p.Thr236Met LB/B rs550313335 - MCHR1 Q99705 VAR_026658 p.Arg248Gln LB/B rs45439291 - MCHR1 Q99705 VAR_026659 p.Pro308Ser LB/B rs539260735 - MCHR1 Q99705 VAR_026660 p.Thr342Met LB/B rs149604804 - MCHR1 Q99705 VAR_049417 p.Gly34Arg LB/B rs11914085 - MCHR2 Q969V1 VAR_026661 p.Arg63Lys LB/B rs147988902 - MCHR2 Q969V1 VAR_026662 p.Arg152Gln LB/B rs62434070 - MCIDAS D6RGH6 VAR_071800 p.Gly366Asp LP/P rs797045151 Ciliary dyskinesia, primary, 42 (CILD42) [MIM:618695] MCIDAS D6RGH6 VAR_071801 p.Arg381His LP/P rs797045152 Ciliary dyskinesia, primary, 42 (CILD42) [MIM:618695] MCL1 Q07820 VAR_024021 p.Glu173Asp LB/B rs2737820 - MCL1 Q07820 VAR_024022 p.Ala227Val LB/B rs11580946 - MCL1 Q07820 VAR_054157 p.Met231Leu LB/B rs140449444 - MCM10 Q7L590 VAR_030771 p.Lys134Arg LB/B rs17152897 - MCM10 Q7L590 VAR_030772 p.Thr541Ser LB/B rs7905784 - MCM10 Q7L590 VAR_030773 p.Lys669Arg LB/B rs2274110 - MCM10 Q7L590 VAR_053836 p.Ala195Pro LB/B rs34630110 - MCM10 Q7L590 VAR_053837 p.Ala418Val LB/B rs35114749 - MCM10 Q7L590 VAR_085769 p.Arg427Cys LP/P - Immunodeficiency 80 with or without congenital cardiomyopathy (IMD80) [MIM:619313] MCM2 P49736 VAR_016137 p.Ala396Thr LB/B rs3087450 - MCM2 P49736 VAR_016138 p.Val667Met LB/B rs2307311 - MCM2 P49736 VAR_016139 p.Ala727Thr LB/B rs2307313 - MCM2 P49736 VAR_021111 p.Asp68Glu LB/B rs3087452 - MCM2 P49736 VAR_021112 p.Leu135Phe LB/B rs2307314 - MCM2 P49736 VAR_033298 p.Glu166Gln LB/B rs1048225 - MCM2 P49736 VAR_033299 p.Gly501Arg LB/B rs13087457 - MCM2 P49736 VAR_077049 p.Arg44Cys LP/P rs375851208 Deafness, autosomal dominant, 70 (DFNA70) [MIM:616968] MCM3 P25205 VAR_014810 p.Ser105Gly LB/B rs2307332 - MCM3 P25205 VAR_014811 p.Asp280Val LB/B rs2307329 - MCM3 P25205 VAR_014812 p.Phe287Leu LB/B rs2307328 - MCM3 P25205 VAR_020427 p.Glu777Lys LB/B rs2230240 - MCM3 P25205 VAR_020516 p.Ile590Leu LB/B rs17240063 - MCM3 P25205 VAR_020517 p.Arg774Trp LB/B rs2230239 - MCM3AP O60318 VAR_019240 p.Ser102Leu LB/B rs9975588 - MCM3AP O60318 VAR_019241 p.Met288Val LB/B rs17182545 - MCM3AP O60318 VAR_019242 p.Arg333Leu LB/B rs17182552 - MCM3AP O60318 VAR_019243 p.Pro413Leu LB/B rs17182566 - MCM3AP O60318 VAR_019244 p.Pro1051Leu LB/B rs17182850 - MCM3AP O60318 VAR_019245 p.Val1062Met LB/B rs17182857 - MCM3AP O60318 VAR_019246 p.Arg1314Trp LB/B rs17176709 - MCM3AP O60318 VAR_019247 p.Asp1449Glu LB/B rs17183220 - MCM3AP O60318 VAR_019248 p.Val1576Ile LB/B rs17183248 - MCM3AP O60318 VAR_019249 p.Ala1795Thr LB/B rs17183290 - MCM3AP O60318 VAR_019250 p.Leu1870Arg LB/B rs17176933 - MCM3AP O60318 VAR_019251 p.Ala1941Val LB/B rs17183403 - MCM3AP O60318 VAR_035472 p.Leu409Val US rs773228537 A colorectal cancer sample MCM3AP O60318 VAR_053973 p.Arg1831Cys LB/B rs2298697 - MCM3AP O60318 VAR_070560 p.Glu915Lys US rs483352869 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124] MCM3AP O60318 VAR_081543 p.Met762Thr US - Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124] MCM3AP O60318 VAR_081544 p.Ala867Asp US - Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124] MCM3AP O60318 VAR_081545 p.Leu870Ser US - Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124] MCM3AP O60318 VAR_081546 p.Arg878His US rs373674344 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124] MCM3AP O60318 VAR_081548 p.Ser951Pro US - Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124] MCM3AP O60318 VAR_081549 p.Val1272Met US rs779248881 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124] MCM3AP O60318 VAR_081551 p.Glu1577Lys US rs779630101 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124] MCM4 P33991 VAR_020500 p.Glu460Gly LB/B rs17287663 - MCM4 P33991 VAR_020501 p.Leu650Met LB/B rs762679 - MCM5 P33992 VAR_014813 p.Ser136Thr LB/B rs2307334 - MCM5 P33992 VAR_014814 p.Thr180Ser LB/B rs2307340 - MCM5 P33992 VAR_014815 p.Val258Ile LB/B rs2230933 - MCM5 P33992 VAR_079198 p.Thr466Ile LP/P rs1131692169 Meier-Gorlin syndrome 8 (MGORS8) [MIM:617564] MCM6 Q14566 VAR_014816 p.Glu35Val LB/B rs796879083 - MCM6 Q14566 VAR_016340 p.Glu806Lys LB/B rs4988283 - MCM6 Q14566 VAR_088369 p.Pro149Ser US rs774059991 - MCM6 Q14566 VAR_088370 p.Cys158Tyr US - - MCM6 Q14566 VAR_088371 p.Asp202Gly US - - MCM6 Q14566 VAR_088372 p.Gly239Ser US - - MCM7 P33993 VAR_013297 p.Asn144Ser LB/B rs2070215 - MCM7 P33993 VAR_014817 p.Gly473Ser LB/B rs2307347 - MCM7 P33993 VAR_029243 p.Arg114Gln LB/B rs2307348 - MCM8 Q9UJA3 VAR_015145 p.Gln63Lys LB/B rs236110 - MCM8 Q9UJA3 VAR_050281 p.Lys101Asn LB/B rs6117014 - MCM8 Q9UJA3 VAR_050282 p.Asn183Ser LB/B rs16991591 - MCM8 Q9UJA3 VAR_050283 p.Glu341Lys LB/B rs16991615 - MCM8 Q9UJA3 VAR_050284 p.Ser365Asn LB/B rs28403619 - MCM8 Q9UJA3 VAR_050285 p.Asn785Ser LB/B rs16991638 - MCM8 Q9UJA3 VAR_073417 p.Pro149Arg LP/P rs606231343 Premature ovarian failure 10 (POF10) [MIM:612885] MCMDC2 Q4G0Z9 VAR_028861 p.Met137Lys LB/B rs16933088 - MCMDC2 Q4G0Z9 VAR_028862 p.Leu322Val LB/B rs17332410 - MCMDC2 Q4G0Z9 VAR_028863 p.Ser583Ala LB/B rs11778562 - MCOLN1 Q9GZU1 VAR_019369 p.Leu106Pro LP/P rs797044825 Mucolipidosis 4 (ML4) [MIM:252650] MCOLN1 Q9GZU1 VAR_019370 p.Thr232Pro LP/P rs767122713 Mucolipidosis 4 (ML4) [MIM:252650] MCOLN1 Q9GZU1 VAR_019371 p.Asp362Tyr LP/P rs121908372 Mucolipidosis 4 (ML4) [MIM:252650] MCOLN1 Q9GZU1 VAR_019373 p.Val446Leu LP/P rs754097561 Mucolipidosis 4 (ML4) [MIM:252650] MCOLN1 Q9GZU1 VAR_019374 p.Leu447Pro LP/P rs797044827 Mucolipidosis 4 (ML4) [MIM:252650] MCOLN1 Q9GZU1 VAR_019375 p.Phe465Leu LP/P rs797044828 Mucolipidosis 4 (ML4) [MIM:252650] MCOLN1 Q9GZU1 VAR_036453 p.Val331Leu US - A breast cancer sample MCOLN1 Q9GZU1 VAR_038380 p.Arg403Cys LP/P rs121908374 Mucolipidosis 4 (ML4) [MIM:252650] MCOLN2 Q8IZK6 VAR_052394 p.Met365Val LB/B rs17117841 - MCOLN2 Q8IZK6 VAR_052395 p.Lys370Gln LB/B rs6704203 - MCPH1 Q8NEM0 VAR_046745 p.Thr27Arg LP/P rs199422124 Microcephaly 1, primary, autosomal recessive (MCPH1) [MIM:251200] MCPH1 Q8NEM0 VAR_046746 p.Arg171Ser LB/B rs2442513 - MCPH1 Q8NEM0 VAR_046747 p.Ala212Thr LB/B rs2922828 - MCPH1 Q8NEM0 VAR_046748 p.Ile264Val LB/B rs34121009 - MCPH1 Q8NEM0 VAR_046749 p.Pro288His LB/B rs35590577 - MCPH1 Q8NEM0 VAR_046750 p.Arg304Ile LB/B rs2083914 - MCPH1 Q8NEM0 VAR_046751 p.Asp314His LB/B rs930557 - MCPH1 Q8NEM0 VAR_046752 p.Asp392Gly LB/B rs2515569 - MCPH1 Q8NEM0 VAR_046753 p.Ser580Gly LB/B rs17076894 - MCPH1 Q8NEM0 VAR_046754 p.Leu602Phe LB/B rs34418490 - MCPH1 Q8NEM0 VAR_046755 p.Thr682Asn LB/B rs12674488 - MCPH1 Q8NEM0 VAR_046756 p.Ala761Val LB/B rs1057090 - MCPH1 Q8NEM0 VAR_046757 p.Pro828Ser LB/B rs1057091 - MCRS1 Q96EZ8 VAR_035473 p.Val441Ile US rs780785469 A colorectal cancer sample MCTP1 Q6DN14 VAR_033189 p.Arg612Lys LB/B rs9885412 - MCTP2 Q6DN12 VAR_033190 p.Ala877Thr LB/B rs34193492 - MCTP2 Q6DN12 VAR_073421 p.Arg46His US rs61735139 - MCTP2 Q6DN12 VAR_073422 p.Arg47His US rs149133063 - MCTP2 Q6DN12 VAR_073423 p.Ala60Thr US rs143256791 - MCTP2 Q6DN12 VAR_073424 p.Gly203Asp US rs201530723 - MCTP2 Q6DN12 VAR_073425 p.Tyr235Cys US rs191271656 - MCTP2 Q6DN12 VAR_073426 p.Val475Ile US rs200107854 - MCTP2 Q6DN12 VAR_073427 p.Ala695Val US rs370153540 - MCTS1 Q9ULC4 VAR_045632 p.Leu106His LB/B rs2233110 - MCUB Q9NWR8 VAR_031443 p.Tyr253Phe LB/B rs13846 - MCUB Q9NWR8 VAR_031444 p.Ile255Val LB/B rs1053680 - MCUB Q9NWR8 VAR_060149 p.Ile63Asn LB/B rs4698744 - MCUR1 Q96AQ8 VAR_033320 p.Ser108Gly LB/B rs1204145 - MCUR1 Q96AQ8 VAR_033321 p.Thr216Ala LB/B rs3180196 - MDC1 Q14676 VAR_022843 p.Glu251Lys LB/B rs2517560 - MDC1 Q14676 VAR_022844 p.Arg268Lys LB/B rs9262152 - MDC1 Q14676 VAR_022845 p.Glu371Lys LB/B rs2075015 - MDC1 Q14676 VAR_022846 p.Ser586Ala LB/B rs2844707 - MDC1 Q14676 VAR_022847 p.Glu1509Asp LB/B rs3132589 - MDC1 Q14676 VAR_022848 p.Ser1540Pro LB/B rs3130645 - MDC1 Q14676 VAR_043922 p.Ile536Met LB/B rs58344693 - MDC1 Q14676 VAR_043923 p.Gln1545Arg LB/B rs17292678 - MDC1 Q14676 VAR_051160 p.Arg179Cys LB/B rs28986464 - MDC1 Q14676 VAR_051161 p.Pro386Leu LB/B rs28986465 - MDC1 Q14676 VAR_051162 p.Arg917Ser LB/B rs28986467 - MDC1 Q14676 VAR_051163 p.Pro1100Ala LB/B rs28994869 - MDC1 Q14676 VAR_051164 p.Ser1112Phe LB/B rs28987085 - MDC1 Q14676 VAR_051165 p.Ser1180Pro LB/B rs9461623 - MDC1 Q14676 VAR_051166 p.Pro1745Arg LB/B rs28994871 - MDC1 Q14676 VAR_051167 p.Val1791Glu LB/B rs28994873 - MDC1 Q14676 VAR_051168 p.Asp1855Glu LB/B rs28994874 - MDC1 Q14676 VAR_051169 p.Arg1883Gln LB/B rs28994875 - MDC1 Q14676 VAR_051170 p.Arg1904Gln LB/B rs28994876 - MDFIC Q9P1T7 VAR_087575 p.Phe244Leu US rs77149653 Lymphatic malformation 12 (LMPHM12) [MIM:620014] MDGA1 Q8NFP4 VAR_047660 p.Leu61Pro LB/B rs10947690 - MDGA1 Q8NFP4 VAR_077845 p.Pro935Ser LB/B rs368283829 - MDGA2 Q7Z553 VAR_059400 p.Val608Phe LB/B rs12590500 - MDH1 P40925 VAR_083894 p.Ala120Val LP/P - Developmental and epileptic encephalopathy 88 (DEE88) [MIM:618959] MDH1B Q5I0G3 VAR_042861 p.Glu510Asp LB/B rs2287631 - MDH1B Q5I0G3 VAR_042862 p.Thr515Ala LB/B rs2287632 - MDH1B Q5I0G3 VAR_064729 p.Leu48Ile US - - MDH2 P40926 VAR_047787 p.Ala9Val LB/B rs6720 - MDH2 P40926 VAR_078001 p.Gly37Arg LP/P rs782308462 Developmental and epileptic encephalopathy 51 (DEE51) [MIM:617339] MDH2 P40926 VAR_078002 p.Pro133Leu LP/P rs375002796 Developmental and epileptic encephalopathy 51 (DEE51) [MIM:617339] MDH2 P40926 VAR_078003 p.Pro207Leu LP/P rs1057519566 Developmental and epileptic encephalopathy 51 (DEE51) [MIM:617339] MDM1 Q8TC05 VAR_034782 p.Thr103Ile LB/B rs962976 - MDM1 Q8TC05 VAR_034783 p.Val383Ile LB/B rs17224810 - MDM1 Q8TC05 VAR_034784 p.Arg489His LB/B rs2306393 - MDM1 Q8TC05 VAR_034785 p.Pro552Leu LB/B rs2306392 - MDM4 O15151 VAR_017106 p.Ile175Thr LB/B rs4252716 - MDM4 O15151 VAR_017107 p.Thr406Ile LB/B rs4252741 - MDM4 O15151 VAR_084553 p.Thr454Met LP/P rs1270135772 Bone marrow failure syndrome 6 (BMFS6) [MIM:618849] MDN1 Q9NU22 VAR_024234 p.Phe440Val LB/B rs4707569 - MDN1 Q9NU22 VAR_024235 p.Ser1559Asn LB/B rs4140446 - MDN1 Q9NU22 VAR_024236 p.Ala4044Ser LB/B rs9353689 - MDN1 Q9NU22 VAR_051171 p.Ile660Val LB/B rs12110451 - MDN1 Q9NU22 VAR_051172 p.Ala1044Val LB/B rs34764513 - MDN1 Q9NU22 VAR_051173 p.His1929Asp LB/B rs16882099 - MDN1 Q9NU22 VAR_051174 p.His2972Pro LB/B rs34208137 - MDN1 Q9NU22 VAR_051175 p.Glu3004Lys LB/B rs12530146 - MDN1 Q9NU22 VAR_051176 p.His3423Tyr LB/B rs9294445 - MDN1 Q9NU22 VAR_051177 p.Ala3794Gly LB/B rs34766278 - MDN1 Q9NU22 VAR_051178 p.Arg3986Leu LB/B rs17293121 - MDN1 Q9NU22 VAR_051179 p.Ala4167Thr LB/B rs35509794 - MDN1 Q9NU22 VAR_051180 p.Ile4720Thr LB/B rs16882046 - MDN1 Q9NU22 VAR_051181 p.Asp4783Glu LB/B rs36040566 - MDN1 Q9NU22 VAR_051182 p.Asn5251Lys LB/B rs4707557 - ME2 P23368 VAR_034104 p.Pro114Leu LB/B rs16952692 - ME2 P23368 VAR_050017 p.Gly450Glu LB/B rs649224 - ME3 Q16798 VAR_047369 p.Ser85Gly LB/B rs17856661 - ME3 Q16798 VAR_047370 p.Lys324Asn LB/B rs1042780 - MEA1 Q16626 VAR_058297 p.Ala183Asp LB/B rs11751058 - MEAK7 Q6P9B6 VAR_037675 p.Arg10Leu LB/B rs8046813 - MEAK7 Q6P9B6 VAR_037676 p.His97Gln LB/B rs8055536 - MEAK7 Q6P9B6 VAR_037677 p.Asp172Glu LB/B rs436278 - MEAK7 Q6P9B6 VAR_037678 p.Ile220Val LB/B rs431818 - MEAK7 Q6P9B6 VAR_037679 p.Glu233Asp LB/B rs34244563 - MEAK7 Q6P9B6 VAR_037680 p.Cys267Arg LB/B rs422145 - MEAK7 Q6P9B6 VAR_037681 p.Ser443Leu LB/B rs34628943 - MECOM Q03112 VAR_051183 p.Pro120Ser LB/B rs7622799 - MECOM Q03112 VAR_061928 p.Gln295Arg LB/B rs34896995 - MECOM Q03112 VAR_076308 p.Arg929Trp LP/P rs864309724 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2) [MIM:616738] MECOM Q03112 VAR_076309 p.His930Arg LP/P rs864309723 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2) [MIM:616738] MECOM Q03112 VAR_076310 p.Thr935Ala LP/P rs864309722 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2) [MIM:616738] MECP2 P51608 VAR_010272 p.Arg106Trp LP/P rs28934907 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010273 p.Arg133Cys LP/P rs28934904 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010274 p.Phe155Ser LP/P rs28934905 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010275 p.Thr158Met LP/P rs28934906 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010276 p.Pro101Arg LP/P rs61754453 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010277 p.Leu124Phe LP/P rs61755763 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010278 p.Ser134Cys LP/P rs61748390 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010279 p.Ala140Val LP/P rs28934908 Intellectual developmental disorder, X-linked, syndromic 13 (MRXS13) [MIM:300055] MECP2 P51608 VAR_010280 p.Pro152Arg LP/P rs61748404 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010281 p.Ala201Val LB/B rs61748381 - MECP2 P51608 VAR_010282 p.Arg306Cys LP/P rs28935468 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010283 p.Glu397Lys LB/B rs56268439 - MECP2 P51608 VAR_017462 p.Leu100Val LP/P rs28935168 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_017463 p.Gly428Ser US rs61753971 Encephalopathy, neonatal severe, due to MECP2 mutations (ENS-MECP2) [MIM:300673] MECP2 P51608 VAR_017581 p.Glu137Gly LP/P rs61748392 Intellectual developmental disorder, X-linked, syndromic 13 (MRXS13) [MIM:300055] MECP2 P51608 VAR_018180 p.Glu10Gln LP/P rs61754421 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018181 p.Ser86Cys LB/B rs61754445 - MECP2 P51608 VAR_018182 p.Asp97Tyr LP/P rs61754448 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018183 p.Pro101His LP/P rs61754453 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018184 p.Pro101Leu LP/P rs61754453 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018185 p.Pro101Thr LP/P - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018186 p.Arg106Gln LP/P rs61754457 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018187 p.Arg111Gly LP/P rs61754459 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018188 p.Gln128Pro LP/P rs61748383 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018189 p.Arg133His LP/P rs61748389 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018190 p.Lys135Glu LP/P rs61748391 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018191 p.Asp156Gly LP/P rs61748407 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018192 p.Arg167Trp LP/P rs61748420 Intellectual developmental disorder, X-linked, syndromic 13 (MRXS13) [MIM:300055] MECP2 P51608 VAR_018193 p.Ala181Val LB/B rs61749705 - MECP2 P51608 VAR_018194 p.Thr196Ser LB/B rs61749713 - MECP2 P51608 VAR_018195 p.Thr197Met LB/B rs61749714 - MECP2 P51608 VAR_018196 p.Thr203Met LB/B rs61749720 - MECP2 P51608 VAR_018197 p.Lys210Ile LP/P rs61749730 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018198 p.Pro225Arg LP/P rs61749715 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018199 p.Thr228Ser LB/B rs61749738 - MECP2 P51608 VAR_018200 p.Ser229Leu LB/B rs61749739 - MECP2 P51608 VAR_018201 p.Gly232Ala LB/B rs61748422 - MECP2 P51608 VAR_018202 p.Pro251Leu LB/B rs61750229 - MECP2 P51608 VAR_018203 p.Lys284Glu LP/P rs61750255 Intellectual developmental disorder, X-linked, syndromic 13 (MRXS13) [MIM:300055] MECP2 P51608 VAR_018204 p.Ala287Pro LB/B rs61750257 - MECP2 P51608 VAR_018205 p.Ser291Ala LB/B rs61751360 - MECP2 P51608 VAR_018206 p.Pro302Ala LP/P rs61751373 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018207 p.Pro302His LP/P rs61749723 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018208 p.Pro302Leu LP/P rs61749723 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018209 p.Pro302Arg LP/P rs61749723 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018210 p.Lys305Arg LP/P rs61751441 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018211 p.Arg306His LP/P rs61751443 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018212 p.Pro322Ala LP/P rs61751449 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018213 p.Pro322Leu LP/P rs61751450 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018214 p.Arg344Trp LP/P rs61752361 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018215 p.Ser359Pro LB/B rs61752371 - MECP2 P51608 VAR_018216 p.Pro376Ser LB/B rs61752387 - MECP2 P51608 VAR_018218 p.Pro388Ser US rs61753000 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018219 p.Glu394Lys LB/B rs63094662 - MECP2 P51608 VAR_018220 p.Pro399Leu US rs62915962 Intellectual developmental disorder, X-linked, syndromic 13 (MRXS13) [MIM:300055] MECP2 P51608 VAR_018221 p.Pro402Leu LB/B rs61753014 - MECP2 P51608 VAR_018222 p.Val412Ile LB/B rs61753966 - MECP2 P51608 VAR_018223 p.Ala439Thr LB/B rs61753973 - MECP2 P51608 VAR_018224 p.Ala444Thr LB/B rs61753975 - MECP2 P51608 VAR_018225 p.Arg453Gln LP/P rs61753980 Intellectual developmental disorder, X-linked, syndromic 13 (MRXS13) [MIM:300055] MECP2 P51608 VAR_018226 p.Pro480Ser LB/B rs267608636 - MECP2 P51608 VAR_023552 p.Asp97Glu LP/P rs61754449 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_023553 p.Leu100Arg LP/P rs61754451 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_023554 p.Pro101Ser LP/P rs61754452 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_023555 p.Tyr120Asp LP/P rs267608454 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_023556 p.Phe155Ile LP/P rs61748406 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_023557 p.Thr158Ala LP/P rs61748411 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_023558 p.Gly161Val LP/P rs61748417 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_023559 p.Pro388Leu LB/B rs61753006 - MECP2 P51608 VAR_037664 p.Pro225Leu LP/P rs61749715 Intellectual developmental disorder, X-linked, syndromic 13 (MRXS13) [MIM:300055] MECP2 P51608 VAR_037665 p.Pro322Ser LP/P rs61751449 Intellectual developmental disorder, X-linked, syndromic 13 (MRXS13) [MIM:300055] MECP2 P51608 VAR_078221 p.Lys305Asn LB/B rs1057519543 - MECR Q9BV79 VAR_027935 p.Phe96Leu LB/B rs1128400 - MECR Q9BV79 VAR_055486 p.Arg227Lys LB/B rs11544658 - MECR Q9BV79 VAR_055487 p.Arg258Leu LB/B rs34835902 - MECR Q9BV79 VAR_077997 p.Gly232Glu LP/P rs762913101 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) [MIM:617282] MECR Q9BV79 VAR_077998 p.Arg258Trp LP/P rs145192716 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) [MIM:617282] MECR Q9BV79 VAR_078000 p.Tyr285Cys LP/P rs759218713 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) [MIM:617282] MED1 Q15648 VAR_034938 p.Ser1240Gly LB/B rs35668211 - MED1 Q15648 VAR_053955 p.Pro753Thr LB/B rs1139825 - MED12 Q93074 VAR_033112 p.Arg961Trp LP/P rs80338758 Opitz-Kaveggia syndrome (OKS) [MIM:305450] MED12 Q93074 VAR_037534 p.Asn1007Ser LP/P rs80338759 Intellectual developmental disorder, X-linked, syndromic, Lujan-Fryns type (MRXSLF) [MIM:309520] MED12 Q93074 VAR_046672 p.Gln1392Arg LB/B rs1139013 - MED12 Q93074 VAR_069770 p.Arg1148His LP/P rs387907360 Ohdo syndrome, X-linked (OHDOX) [MIM:300895] MED12 Q93074 VAR_069771 p.Ser1165Pro LP/P rs387907361 Ohdo syndrome, X-linked (OHDOX) [MIM:300895] MED12 Q93074 VAR_069772 p.His1729Asn LP/P rs387907362 Ohdo syndrome, X-linked (OHDOX) [MIM:300895] MED12 Q93074 VAR_074018 p.Gln1974His US rs879255528 - MED12L Q86YW9 VAR_037647 p.Gln401Pro LB/B rs17290219 - MED12L Q86YW9 VAR_037648 p.Glu464Lys LB/B rs3108728 - MED12L Q86YW9 VAR_037649 p.Gln903His LB/B rs2131100 - MED12L Q86YW9 VAR_037650 p.Arg1210Gln LB/B rs3732765 - MED12L Q86YW9 VAR_037651 p.Arg1698Gln LB/B rs2276761 - MED13 Q9UHV7 VAR_057792 p.Ala1370Pro LB/B rs34805963 - MED13 Q9UHV7 VAR_057793 p.Ala1385Pro LB/B rs35996128 - MED13 Q9UHV7 VAR_083557 p.Thr326Ile LP/P rs1603405457 Intellectual developmental disorder, autosomal dominant 61 (MRD61) [MIM:618009] MED13 Q9UHV7 VAR_083559 p.Pro327Gln LP/P - Intellectual developmental disorder, autosomal dominant 61 (MRD61) [MIM:618009] MED13 Q9UHV7 VAR_083560 p.Pro327Ser LP/P - Intellectual developmental disorder, autosomal dominant 61 (MRD61) [MIM:618009] MED13 Q9UHV7 VAR_083561 p.Pro540Thr US - Intellectual developmental disorder, autosomal dominant 61 (MRD61) [MIM:618009] MED13 Q9UHV7 VAR_083564 p.Gln2060Lys US - Intellectual developmental disorder, autosomal dominant 61 (MRD61) [MIM:618009] MED13 Q9UHV7 VAR_083565 p.Ala2064Val US - Intellectual developmental disorder, autosomal dominant 61 (MRD61) [MIM:618009] MED13L Q71F56 VAR_024024 p.Glu251Gly US rs28940309 Impaired intellectual development and distinctive facial features with or without cardiac defects (MRFACD) [MIM:616789] MED13L Q71F56 VAR_024025 p.Arg1872His US rs28940310 - MED13L Q71F56 VAR_024026 p.Asp2023Gly US rs121918333 - MED14 O60244 VAR_036608 p.Phe1325Leu US - A breast cancer sample MED16 Q9Y2X0 VAR_053958 p.Leu770Phe LB/B rs34859566 - MED16 Q9Y2X0 VAR_053959 p.Glu874Lys LB/B rs13090 - MED17 Q9NVC6 VAR_057781 p.Phe357Leu LB/B rs35313315 - MED17 Q9NVC6 VAR_063126 p.Glu69Asp LB/B rs2848477 - MED17 Q9NVC6 VAR_065066 p.Leu371Pro LP/P rs267607232 Microcephaly, postnatal progressive, with seizures and brain atrophy (MCPHSBA) [MIM:613668] MED23 Q9ULK4 VAR_082644 p.Arg611Gln LP/P rs370667926 Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy (MRT18) [MIM:614249] MED24 O75448 VAR_053969 p.Ala204Thr LB/B rs34585432 - MED25 Q71SY5 VAR_063521 p.Ala335Val LP/P rs145770066 Charcot-Marie-Tooth disease, axonal, 2B2 (CMT2B2) [MIM:605589] MED25 Q71SY5 VAR_073949 p.Tyr39Cys LP/P rs794729668 Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) [MIM:616449] MED25 Q71SY5 VAR_073950 p.Arg140Trp US rs781140315 - MED27 Q6P2C8 VAR_085606 p.Val63Gly US rs774752053 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia (NEDSCAC) [MIM:619286] MED27 Q6P2C8 VAR_085607 p.Ser232Phe US rs1056298725 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia (NEDSCAC) [MIM:619286] MED27 Q6P2C8 VAR_085608 p.Val242Ala US rs1589166413 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia (NEDSCAC) [MIM:619286] MED27 Q6P2C8 VAR_085609 p.Pro259Leu US - Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia (NEDSCAC) [MIM:619286] MED27 Q6P2C8 VAR_085610 p.Pro280Leu US rs778593272 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia (NEDSCAC) [MIM:619286] MED27 Q6P2C8 VAR_085611 p.Gly291Ser US rs774276967 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia (NEDSCAC) [MIM:619286] MED27 Q6P2C8 VAR_085612 p.Pro293Leu US rs1218659650 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia (NEDSCAC) [MIM:619286] MEDAG Q5VYS4 VAR_030261 p.Arg59Gly LB/B rs9531945 - MEF2A Q02078 VAR_038407 p.Asn263Ser LB/B rs121918530 - MEF2A Q02078 VAR_038408 p.Pro279Leu LB/B rs121918529 - MEF2A Q02078 VAR_038409 p.Gly283Asp LB/B rs121918531 - MEF2C Q06413 VAR_078228 p.Ser36Arg US - - MEF2C Q06413 VAR_078621 p.Cys39Arg LB/B rs796052729 - MEF2D Q14814 VAR_022155 p.Pro434Ser LB/B rs2274315 - MEFV O15553 VAR_009051 p.Glu148Gln LP/P rs3743930 Familial Mediterranean fever, autosomal dominant (ADFMF) [MIM:134610] MEFV O15553 VAR_009051 p.Glu148Gln LP/P rs3743930 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009052 p.Glu167Asp LP/P rs104895079 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009053 p.Arg202Gln LB/B rs224222 - MEFV O15553 VAR_009054 p.Thr267Ile LP/P rs104895081 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009055 p.Pro369Ser US rs11466023 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009056 p.Arg408Gln US rs11466024 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009057 p.Phe479Leu LP/P rs104895083 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009059 p.Thr681Ile LP/P rs104895090 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009061 p.Met694Ile LP/P rs28940578 Familial Mediterranean fever, autosomal dominant (ADFMF) [MIM:134610] MEFV O15553 VAR_009061 p.Met694Ile LP/P rs28940578 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009062 p.Met694Val LP/P rs61752717 Familial Mediterranean fever, autosomal dominant (ADFMF) [MIM:134610] MEFV O15553 VAR_009062 p.Met694Val LP/P rs61752717 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009064 p.Lys695Arg LP/P rs104895094 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009065 p.Val726Ala LP/P rs28940579 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009066 p.Ala744Ser US rs61732874 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009067 p.Arg761His LP/P rs104895097 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_016824 p.Leu110Pro LP/P rs11466018 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_016826 p.Glu230Lys LP/P rs104895080 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_016827 p.Ile591Thr LP/P rs11466045 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_016828 p.Arg653His LP/P rs104895085 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_016829 p.Ser675Asn LP/P rs104895087 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_016830 p.Met680Leu LP/P rs104895089 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_024376 p.Gln440Glu LB/B rs11466026 - MEFV O15553 VAR_028326 p.Arg42Trp LP/P rs61754767 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028327 p.Ser108Arg LP/P rs104895103 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028328 p.Glu148Val LP/P rs104895076 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028329 p.Glu163Ala LP/P rs104895106 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028330 p.Thr177Ile LP/P rs104895143 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028331 p.Glu319Lys LP/P rs104895110 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028332 p.Glu474Lys LP/P rs104895104 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028333 p.His478Tyr LP/P rs104895105 Familial Mediterranean fever, autosomal dominant (ADFMF) [MIM:134610] MEFV O15553 VAR_028334 p.Phe585Leu LB/B rs11466043 - MEFV O15553 VAR_028335 p.Gly632Ser LP/P rs104895128 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028336 p.Ile640Met LP/P rs104895115 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028337 p.Ile641Phe LP/P rs104895147 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028338 p.Pro646Leu LP/P rs104895107 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028339 p.Leu649Pro LP/P rs104895108 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028340 p.Glu656Ala LP/P rs104895086 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028341 p.Asp661Asn LP/P rs104895120 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028342 p.Gly678Glu LP/P rs104895088 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028343 p.Met680Ile LP/P rs28940580 Familial Mediterranean fever, autosomal dominant (ADFMF) [MIM:134610] MEFV O15553 VAR_028343 p.Met680Ile LP/P rs28940580 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028344 p.Tyr688Cys LP/P rs104895122 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028345 p.Met694Leu LP/P rs61752717 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028346 p.Lys695Met LP/P rs104895094 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028347 p.Ser702Cys LB/B rs104895166 - MEFV O15553 VAR_028348 p.Val704Ile LP/P rs104895096 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028349 p.Pro705Ser LP/P rs104895145 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028350 p.Ile720Met LP/P rs104895102 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028351 p.Phe743Leu LP/P rs104895152 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028352 p.Pro758Ser LP/P rs104895114 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028353 p.Pro780Thr LP/P rs104895154 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_048398 p.Val33Leu LB/B rs11466016 - MEFV O15553 VAR_070795 p.Thr577Ala US - - MEFV O15553 VAR_070796 p.Thr577Asn LB/B rs1057516210 - MEFV O15553 VAR_070797 p.Thr577Ser LB/B rs104895193 - MEFV O15553 VAR_070798 p.Met694Lys LP/P rs1596350022 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_072382 p.Gly196Trp US rs104895179 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_072383 p.Ile247Val US rs1472692347 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_072384 p.Pro283Leu US rs104895119 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_072385 p.Gly304Arg US rs75977701 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_072386 p.Gly632Ala US rs967990798 Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_084466 p.Ser242Arg LP/P rs104895127 Pyrin-associated autoinflammatory disease (PAAND) [MIM:608068] MEFV O15553 VAR_084467 p.Glu244Lys LP/P - Pyrin-associated autoinflammatory disease (PAAND) [MIM:608068] MEGF10 Q96KG7 VAR_036988 p.Val206Ile LB/B rs3812054 - MEGF10 Q96KG7 VAR_036989 p.Arg1072Lys LB/B rs17164935 - MEGF10 Q96KG7 VAR_046377 p.Pro897Leu LB/B rs13183625 - MEGF10 Q96KG7 VAR_067469 p.Arg71Trp US rs387907074 Congenital myopathy 10B, mild variant (CMYP10B) [MIM:620249] MEGF10 Q96KG7 VAR_067470 p.Cys326Arg LP/P rs387907073 Congenital myopathy 10B, mild variant (CMYP10B) [MIM:620249] MEGF10 Q96KG7 VAR_067471 p.Cys774Arg LP/P rs387907072 Congenital myopathy 10A, severe variant (CMYP10A) [MIM:614399] MEGF10 Q96KG7 VAR_067471 p.Cys774Arg LP/P rs387907072 Congenital myopathy 10B, mild variant (CMYP10B) [MIM:620249] MEGF10 Q96KG7 VAR_081905 p.Tyr1030Cys US rs1433266858 - MEGF10 Q96KG7 VAR_088236 p.Cys118Arg US - Congenital myopathy 10B, mild variant (CMYP10B) [MIM:620249] MEGF10 Q96KG7 VAR_088237 p.Cys699Ser US - Congenital myopathy 10B, mild variant (CMYP10B) [MIM:620249] MEGF10 Q96KG7 VAR_088238 p.Cys810Tyr US - Congenital myopathy 10B, mild variant (CMYP10B) [MIM:620249] MEGF11 A6BM72 VAR_036990 p.His242Arg LB/B rs333550 - MEGF11 A6BM72 VAR_059261 p.Ser95Asn LB/B rs16949528 - MEGF11 A6BM72 VAR_059262 p.His317Arg LB/B rs333550 - MEGF11 A6BM72 VAR_059263 p.Leu474Pro LB/B rs35309197 - MEGF11 A6BM72 VAR_059264 p.Leu861Phe LB/B rs3803414 - MEGF11 A6BM72 VAR_059265 p.Ile988Thr LB/B rs2303374 - MEGF6 O75095 VAR_058361 p.Ser131Gly LB/B rs2794340 - MEGF6 O75095 VAR_058362 p.Arg916Leu LB/B rs7553399 - MEGF6 O75095 VAR_058363 p.Gly1137Ala LB/B rs4648506 - MEGF6 O75095 VAR_059258 p.Met115Thr LB/B rs7513275 - MEGF6 O75095 VAR_059259 p.Ala313Val LB/B rs11585362 - MEGF6 O75095 VAR_059260 p.Leu688Pro LB/B rs2821008 - MEGF6 O75095 VAR_061155 p.Pro587Leu LB/B rs947345 - MEGF6 O75095 VAR_061156 p.Arg1287His LB/B rs57804877 - MEGF6 O75095 VAR_061157 p.Gly1536Ser LB/B rs57484147 - MEGF8 Q7Z7M0 VAR_069305 p.Gly199Arg LP/P - Carpenter syndrome 2 (CRPT2) [MIM:614976] MEGF8 Q7Z7M0 VAR_069306 p.Arg1566His LP/P rs397515427 Carpenter syndrome 2 (CRPT2) [MIM:614976] MEGF8 Q7Z7M0 VAR_069307 p.Ser2434Gly LP/P rs397515428 Carpenter syndrome 2 (CRPT2) [MIM:614976] MEI1 Q5TIA1 VAR_046037 p.Glu657Gln LB/B rs17002655 - MEI1 Q5TIA1 VAR_046038 p.Ser853Thr LB/B rs17002665 - MEI1 Q5TIA1 VAR_051184 p.Lys1049Glu LB/B rs12484839 - MEI1 Q5TIA1 VAR_081145 p.Thr408Arg US rs533817526 - MEI1 Q5TIA1 VAR_087425 p.Leu309Phe US - - MEI1 Q5TIA1 VAR_087426 p.Thr363Met US - - MEIG1 Q5JSS6 VAR_053979 p.Lys9Thr LB/B rs4750568 - MEIOB Q8N635 VAR_043620 p.Ile261Thr LB/B rs9806945 - MEIOB Q8N635 VAR_059624 p.Lys75Thr LB/B rs1657125 - MEIOB Q8N635 VAR_061619 p.Thr18Pro LB/B rs1742446 - MEIOB Q8N635 VAR_080034 p.Asn64Ile LP/P rs1555472691 Spermatogenic failure 22 (SPGF22) [MIM:617706] MEIOC A2RUB1 VAR_039917 p.Met311Leu LB/B rs8073475 - MEIOC A2RUB1 VAR_039918 p.Asn320Thr LB/B rs9907151 - MEIS1 O00470 VAR_063166 p.Arg272His LB/B rs61752693 - MELK Q14680 VAR_040794 p.Thr56Met LB/B rs35233455 - MELK Q14680 VAR_040795 p.Lys219Arg LB/B rs35142210 - MELK Q14680 VAR_040796 p.Arg333Lys LB/B rs34655121 - MELK Q14680 VAR_040797 p.Thr348Ile LB/B rs55845414 - MELK Q14680 VAR_040798 p.Thr460Met US rs144052967 An ovarian mucinous carcinoma sample MELTF P08582 VAR_020413 p.Arg294Trp LB/B rs2276790 - MELTF P08582 VAR_057304 p.Ala559Thr LB/B rs17129219 - MEN1 O00255 VAR_005425 p.Pro12Leu LP/P rs794728614 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005426 p.Leu22Arg LP/P rs104894256 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005427 p.Glu26Lys LP/P rs28931612 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005428 p.Leu39Trp LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005429 p.Gly42Asp LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005430 p.Glu45Gly LP/P rs1592660101 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005432 p.His139Asp LP/P rs104894263 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005433 p.His139Tyr LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005434 p.Lys135Ile LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005436 p.Phe144Val LP/P rs1114167543 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005437 p.Ala160Pro LP/P rs1565648656 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005438 p.Ala164Asp LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005440 p.Arg171Gln LB/B rs607969 - MEN1 O00255 VAR_005441 p.Asp172Tyr LP/P rs1114167494 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005442 p.Ala176Pro LP/P rs376872829 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005443 p.Glu179Asp LP/P rs1555165811 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005444 p.Trp183Ser LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005445 p.Val184Glu LB/B rs104894262 - MEN1 O00255 VAR_005446 p.Leu223Pro LP/P rs886039415 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005447 p.Ala242Val LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005448 p.Glu255Lys LB/B rs104894268 - MEN1 O00255 VAR_005449 p.Leu264Pro LP/P rs1941794175 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005450 p.Leu267Pro US - - MEN1 O00255 VAR_005451 p.Ala284Glu LP/P rs1565645563 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005452 p.Leu286Pro LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005453 p.Ala309Pro LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005454 p.Arg314Pro LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005455 p.Ala337Asp LP/P rs2071312 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005456 p.Trp341Arg LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005457 p.Thr344Arg LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005458 p.Glu359Lys LP/P rs387906552 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005460 p.Ala368Asp LP/P rs1555164707 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005461 p.Asp418Asn LP/P rs104894264 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005464 p.Trp436Arg LP/P rs104894259 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005465 p.Phe447Ser LP/P rs1941604532 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005466 p.Thr541Ala LB/B rs2959656 - MEN1 O00255 VAR_005467 p.Ser555Asn LP/P rs863224527 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_008017 p.Gly156Asp US rs794728648 Parathyroid tumor MEN1 O00255 VAR_008017 p.Gly156Asp LP/P rs794728648 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_008018 p.Cys241Arg LP/P rs1592649108 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039587 p.Glu45Lys LP/P rs1114167491 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039588 p.Arg98Leu LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039589 p.Gly110Glu LP/P rs1389398299 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039590 p.His139Pro LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039591 p.His139Arg LP/P rs1114167515 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039592 p.Asp153Val LP/P rs1565648789 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039593 p.Ser154Ile LP/P rs1941873896 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039594 p.Ser155Phe LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039595 p.Ala160Thr LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039596 p.Val162Phe LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039597 p.Cys165Arg LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039598 p.Leu168Pro LP/P rs386134256 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039599 p.Glu179Lys LP/P rs1064793167 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039600 p.Glu179Gln LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039601 p.His181Arg LP/P rs1941861451 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039602 p.Trp183Arg US rs1555165791 Parathyroid tumor MEN1 O00255 VAR_039602 p.Trp183Arg LP/P rs1555165791 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039603 p.Val215Met LP/P rs794728621 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039604 p.Gly225Arg LP/P rs1057521110 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039605 p.Arg229Leu LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039606 p.Val240Phe LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039607 p.Cys241Phe LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039608 p.Cys241Tyr LP/P rs794728624 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039609 p.Ser253Pro LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039610 p.Ser253Trp US rs386134259 Parathyroid tumor MEN1 O00255 VAR_039611 p.Leu259Arg LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039612 p.Gln260Pro US - - MEN1 O00255 VAR_039614 p.Glu274Ala US - Parathyroid tumor MEN1 O00255 VAR_039615 p.Pro277His LB/B rs1060499973 - MEN1 O00255 VAR_039616 p.Gly281Arg LP/P rs1114167493 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039617 p.Ala284Pro US - Parathyroid tumor MEN1 O00255 VAR_039618 p.Gly305Asp US - - MEN1 O00255 VAR_039619 p.Thr311Pro LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039620 p.His317Arg LP/P rs1114167495 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039621 p.His317Tyr LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039622 p.Pro320Leu LP/P rs1114167469 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039623 p.Pro320Arg LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039624 p.Ala325Pro LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039625 p.Ala337Pro LP/P rs2071312 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039626 p.Ala342Pro LP/P rs776561706 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039627 p.Ile348Asn LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039628 p.Tyr353Asp LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039629 p.Arg355Trp LP/P rs863224807 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039630 p.Asp357His LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039631 p.Ile372Met LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039632 p.Pro373Ser LP/P rs794728627 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039633 p.Ala385Val LP/P rs1298484645 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039634 p.Ala411Pro LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039635 p.Leu414Pro LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039636 p.Arg415Pro LP/P rs1446518998 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039637 p.Asp418His LP/P rs104894264 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039638 p.Cys421Tyr LP/P rs386134249 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039639 p.Trp423Ser LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039640 p.Ser427Arg LP/P rs1114167528 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039641 p.Trp436Cys LP/P rs398124435 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039642 p.Leu444Pro LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039643 p.Arg527Cys LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039644 p.Pro540Ser LP/P rs745404679 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039645 p.Pro544Ser LP/P rs1387157979 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039646 p.Thr552Ser LB/B rs121913035 - MEN1 O00255 VAR_039647 p.Ser555Arg LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_064937 p.Val215Phe US - - MEN1 O00255 VAR_065153 p.Ile147Phe LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_065154 p.Leu152Trp US - Parathyroid tumors MEN1 O00255 VAR_065155 p.Leu413Arg LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_065156 p.Trp471Cys LP/P - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_082607 p.Ala284Gln US - - MEOX1 P50221 VAR_049584 p.Ser27Leu LB/B rs9898682 - MEOX2 P50222 VAR_049585 p.Ile287Leu LB/B rs2237493 - MEP1A Q16819 VAR_020056 p.Val469Leu LB/B rs2274658 - MEP1A Q16819 VAR_021846 p.Met634Val LB/B rs2297019 - MEP1A Q16819 VAR_033492 p.Arg476Gly LB/B rs12197930 - MEP1A Q16819 VAR_033493 p.Thr726Met LB/B rs1804211 - MEP1A Q16819 VAR_051583 p.Thr606Ser LB/B rs2297020 - MEP1B Q16820 VAR_057064 p.Val326Met LB/B rs9959396 - MEP1B Q16820 VAR_057065 p.Pro695Leu LB/B rs616114 - MEP1B Q16820 VAR_069387 p.Thr324Ala LB/B - - MEPE Q9NQ76 VAR_034094 p.Val330Ile LB/B rs17013285 - MERTK Q12866 VAR_020285 p.Arg865Trp LB/B rs2230516 - MERTK Q12866 VAR_021039 p.Arg20Ser LB/B rs35898499 - MERTK Q12866 VAR_021040 p.Ser118Asn LB/B rs13027171 - MERTK Q12866 VAR_021041 p.Ala282Thr LB/B rs7588635 - MERTK Q12866 VAR_021042 p.Arg293His LB/B rs34072093 - MERTK Q12866 VAR_021043 p.Arg466Lys LB/B rs7604639 - MERTK Q12866 VAR_021044 p.Asn498Ser LB/B rs35858762 - MERTK Q12866 VAR_021045 p.Ile518Val LB/B rs2230515 - MERTK Q12866 VAR_021046 p.Glu540Lys LP/P rs113485015 Retinitis pigmentosa 38 (RP38) [MIM:613862] MERTK Q12866 VAR_021047 p.Ser661Cys LP/P - Retinitis pigmentosa 38 (RP38) [MIM:613862] MERTK Q12866 VAR_021048 p.Ile871Thr LP/P rs377341255 Retinitis pigmentosa 38 (RP38) [MIM:613862] MERTK Q12866 VAR_021049 p.Ile871Val LB/B - - MERTK Q12866 VAR_029237 p.Val870Ile LB/B rs2230517 - MERTK Q12866 VAR_041741 p.Val185Met LB/B rs56205303 - MERTK Q12866 VAR_041742 p.Glu289Lys LB/B rs766215580 - MERTK Q12866 VAR_041743 p.Ala446Gly US - A renal clear cell carcinoma sample MERTK Q12866 VAR_041744 p.Val452Leu LB/B rs34010621 - MERTK Q12866 VAR_041745 p.Gln662Glu LB/B rs56209758 - MERTK Q12866 VAR_041746 p.Ala708Ser US - A head & Neck squamous cell carcinoma sample MERTK Q12866 VAR_041747 p.Glu823Gln LB/B rs55924349 - MERTK Q12866 VAR_051698 p.Asn329Ser LB/B rs34943572 - MERTK Q12866 VAR_067194 p.Phe214Val LB/B rs1475870132 - MERTK Q12866 VAR_067195 p.Pro958Leu LB/B rs201460398 - MESP1 Q9BRJ9 VAR_035021 p.Ala53Pro LB/B rs6496598 - MESP2 Q0VG99 VAR_046779 p.Ala66Gly LB/B rs71647809 - MESP2 Q0VG99 VAR_046780 p.Leu125Val LB/B rs71647806 - MESP2 Q0VG99 VAR_046781 p.Ser224Phe LB/B rs71647807 - MESP2 Q0VG99 VAR_061257 p.Val138Met LB/B rs28462216 - MET P08581 VAR_006285 p.Ala320Val LB/B rs35776110 - MET P08581 VAR_006286 p.Met1131Thr LP/P rs121913668 Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_006287 p.Val1188Leu LP/P rs121913669 Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_006288 p.Leu1195Val LP/P rs121913673 Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_006289 p.Val1220Ile LP/P rs121913670 Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_006290 p.Asp1228Asn LP/P rs121913671 Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_006291 p.Asp1228His LP/P rs121913671 Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_006292 p.Tyr1230Cys LP/P rs121913246 Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_006293 p.Tyr1230His LP/P rs121913247 Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_006294 p.Met1250Thr LP/P rs121913245 Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_032478 p.Leu238Ser LB/B rs34349517 - MET P08581 VAR_032479 p.Ile316Met LB/B rs35225896 - MET P08581 VAR_032480 p.Asn375Ser LB/B rs33917957 - MET P08581 VAR_032481 p.Pro773Leu US rs771333219 Gastric cancer MET P08581 VAR_032482 p.Arg970Cys LB/B rs34589476 - MET P08581 VAR_032483 p.Pro991Ser US rs768678989 Gastric cancer MET P08581 VAR_032484 p.Thr992Ile US rs56391007 - MET P08581 VAR_032485 p.Val1092Ile LP/P rs786202724 Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_032486 p.His1094Leu LP/P - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_032487 p.His1094Arg LP/P rs121913243 Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_032488 p.His1094Tyr LP/P rs121913244 Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_032489 p.His1106Asp LP/P - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_032490 p.Thr1173Ile LP/P rs121913675 Hepatocellular carcinoma (HCC) [MIM:114550] MET P08581 VAR_032491 p.Tyr1230Asp LP/P - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_032492 p.Lys1244Arg LP/P rs121913677 Hepatocellular carcinoma (HCC) [MIM:114550] MET P08581 VAR_032493 p.Met1250Ile LP/P rs121913676 Hepatocellular carcinoma (HCC) [MIM:114550] MET P08581 VAR_041738 p.Arg143Gln LB/B rs35469582 - MET P08581 VAR_041739 p.Ser156Leu LB/B rs56311081 - MET P08581 VAR_041740 p.Glu168Asp US rs55985569 - MET P08581 VAR_064855 p.His150Tyr US rs1436957498 - MET P08581 VAR_064856 p.Cys385Tyr US rs752055485 - MET P08581 VAR_064857 p.Val1294Ile US rs1263785859 - MET P08581 VAR_075757 p.Phe841Val LP/P rs794728016 Deafness, autosomal recessive, 97 (DFNB97) [MIM:616705] MET P08581 VAR_076585 p.Tyr1003Ser US - - MET P08581 VAR_079370 p.Asn375Lys US rs776693512 - MET P08581 VAR_087543 p.Tyr1234Cys LP/P rs1554400286 Arthrogryposis, distal, 11 (DA11) [MIM:620019] METAP1D Q6UB28 VAR_050273 p.Gly14Val LB/B rs10497377 - METTL13 Q8N6R0 VAR_034040 p.Met105Val LB/B rs2232816 - METTL13 Q8N6R0 VAR_034041 p.Met359Ile LB/B rs2232819 - METTL13 Q8N6R0 VAR_064730 p.Tyr16Cys LB/B rs774565178 - METTL13 Q8N6R0 VAR_080810 p.Arg544Gln LB/B rs145666727 - METTL15 A6NJ78 VAR_036801 p.Asn31Lys LB/B rs2883478 - METTL15 A6NJ78 VAR_036802 p.Ala149Thr LB/B rs11823114 - METTL15 A6NJ78 VAR_059446 p.Ile267Phe LB/B rs11030280 - METTL16 Q86W50 VAR_037086 p.Ser479Asn LB/B rs17834783 - METTL16 Q86W50 VAR_081134 p.Gly110Cys US - - METTL17 Q9H7H0 VAR_037422 p.Gly289Ala LB/B rs2297717 - METTL17 Q9H7H0 VAR_037423 p.Ala346Pro LB/B rs2771350 - METTL17 Q9H7H0 VAR_072388 p.Ala173Ser LB/B rs72661115 - METTL18 O95568 VAR_027087 p.Glu10Asp LB/B rs10489177 - METTL18 O95568 VAR_027088 p.Ala325Val LB/B rs16862686 - METTL18 O95568 VAR_027089 p.Lys360Met LB/B rs13375701 - METTL18 O95568 VAR_054050 p.Phe309Leu LB/B rs34396097 - METTL18 O95568 VAR_054051 p.Arg318His LB/B rs35984232 - METTL21A Q8WXB1 VAR_032935 p.Thr192Ile LB/B rs2551949 - METTL21C Q5VZV1 VAR_039013 p.Asn46Ser LB/B rs16960383 - METTL21C Q5VZV1 VAR_062229 p.Gly15Arg LB/B rs2390760 - METTL22 Q9BUU2 VAR_032134 p.Trp59Ser LB/B rs2270286 - METTL22 Q9BUU2 VAR_032135 p.Ala219Thr LB/B rs2302607 - METTL22 Q9BUU2 VAR_059623 p.Ala366Thr LB/B rs1731000 - METTL22 Q9BUU2 VAR_061617 p.Glu375Lys LB/B rs55747257 - METTL23 Q86XA0 VAR_039343 p.Leu141Val LB/B rs12602772 - METTL23 Q86XA0 VAR_085972 p.Met150Thr US - Intellectual developmental disorder, autosomal recessive 44 (MRT44) [MIM:615942] METTL24 Q5JXM2 VAR_044502 p.Leu281Phe LB/B rs2334321 - METTL25 Q8N6Q8 VAR_027779 p.Gln249Lys LB/B rs4296098 - METTL25B Q96FB5 VAR_032564 p.Val400Leu LB/B rs4311877 - METTL26 Q96S19 VAR_064368 p.Leu136Pro LB/B rs865791888 - METTL27 Q8N6F8 VAR_060385 p.Gln107Arg LB/B rs13241921 - METTL27 Q8N6F8 VAR_060386 p.Ser171Trp LB/B rs13232463 - METTL2B Q6P1Q9 VAR_042547 p.Cys124Arg LB/B rs2896399 - METTL2B Q6P1Q9 VAR_042548 p.Asn129His LB/B rs2023329 - METTL2B Q6P1Q9 VAR_042549 p.Glu169Lys LB/B rs1065267 - METTL2B Q6P1Q9 VAR_042550 p.Val266Ile LB/B rs2562741 - METTL2B Q6P1Q9 VAR_059465 p.Val68Ile LB/B rs2288557 - METTL3 Q86U44 VAR_076859 p.Tyr406Cys US - - METTL4 Q8N3J2 VAR_027670 p.Leu163Phe LB/B rs12606220 - METTL4 Q8N3J2 VAR_027671 p.Gln310Lys LB/B rs2677879 - METTL4 Q8N3J2 VAR_027672 p.Val468Leu LB/B rs8084295 - METTL4 Q8N3J2 VAR_056159 p.Glu230Asp LB/B rs34143130 - METTL4 Q8N3J2 VAR_064731 p.Ser42Phe US - - METTL5 Q9NRN9 VAR_051507 p.Val202Gly LB/B rs1051387 - METTL5 Q9NRN9 VAR_086154 p.Gly61Asp US - - MEX3C Q5U5Q3 VAR_030832 p.Thr412Pro LB/B rs12970605 - MFAP3 P55082 VAR_069386 p.Ser53Gly LB/B rs748271641 - MFAP4 P55083 VAR_069073 p.Ala173Val LB/B rs17855749 - MFAP5 Q13361 VAR_036430 p.Val61Asp US - A breast cancer sample MFAP5 Q13361 VAR_072688 p.Trp21Leu LP/P rs724159961 Aortic aneurysm, familial thoracic 9 (AAT9) [MIM:616166] MFF Q9GZY8 VAR_036028 p.Glu29Lys US - A colorectal cancer sample MFF Q9GZY8 VAR_053915 p.Ser7Cys LB/B rs3211097 - MFF Q9GZY8 VAR_053916 p.Ser7Ile LB/B rs3211098 - MFGE8 Q08431 VAR_024263 p.Leu76Met LB/B rs1878326 - MFGE8 Q08431 VAR_029794 p.Arg3Ser LB/B rs4945 - MFHAS1 Q9Y4C4 VAR_036846 p.Leu163Val LB/B rs34984230 - MFHAS1 Q9Y4C4 VAR_036847 p.Leu892Pro LB/B rs429433 - MFN1 Q8IWA4 VAR_018606 p.Arg523Pro LB/B rs7637065 - MFN1 Q8IWA4 VAR_036115 p.Asp415His US - A colorectal cancer sample MFN2 O95140 VAR_018607 p.Val69Phe US rs28940296 Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_018608 p.Leu76Pro LP/P rs28940293 Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_018609 p.Arg94Gln LP/P rs28940291 Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_018609 p.Arg94Gln LP/P rs28940291 Charcot-Marie-Tooth disease, axonal, 2A2B (CMT2A2B) [MIM:617087] MFN2 O95140 VAR_018609 p.Arg94Gln LP/P rs28940291 Neuropathy, hereditary motor and sensory, 6A, with optic atrophy (HMSN6A) [MIM:601152] MFN2 O95140 VAR_018610 p.Pro251Ala LP/P rs28940295 Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_018611 p.Arg280His LP/P rs28940294 Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_018612 p.Trp740Ser LP/P rs28940292 Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_022464 p.Lys357Asn LP/P rs119103261 Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_029876 p.Arg94Trp LP/P rs119103263 Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_029876 p.Arg94Trp LP/P rs119103263 Neuropathy, hereditary motor and sensory, 6A, with optic atrophy (HMSN6A) [MIM:601152] MFN2 O95140 VAR_029877 p.Thr206Ile LP/P rs119103266 Neuropathy, hereditary motor and sensory, 6A, with optic atrophy (HMSN6A) [MIM:601152] MFN2 O95140 VAR_029878 p.Gln276Arg US rs119103264 Neuropathy, hereditary motor and sensory, 6A, with optic atrophy (HMSN6A) [MIM:601152] MFN2 O95140 VAR_029879 p.His361Tyr LP/P - Neuropathy, hereditary motor and sensory, 6A, with optic atrophy (HMSN6A) [MIM:601152] MFN2 O95140 VAR_029880 p.Arg364Trp LP/P rs119103265 Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_029880 p.Arg364Trp LP/P rs119103265 Neuropathy, hereditary motor and sensory, 6A, with optic atrophy (HMSN6A) [MIM:601152] MFN2 O95140 VAR_067088 p.Leu233Val LP/P - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_067089 p.Glu744Met US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_073291 p.Arg259His US rs755065651 - MFN2 O95140 VAR_076896 p.Phe216Ser LP/P rs387906990 Charcot-Marie-Tooth disease, axonal, 2A2B (CMT2A2B) [MIM:617087] MFN2 O95140 VAR_076897 p.Thr362Met LP/P rs387906991 Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_076897 p.Thr362Met LP/P rs387906991 Charcot-Marie-Tooth disease, axonal, 2A2B (CMT2A2B) [MIM:617087] MFN2 O95140 VAR_078437 p.Gly127Val LP/P - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_078438 p.Glu347Val US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_078439 p.Met376Ile US rs1553144059 Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_078440 p.Arg468His LP/P rs138382758 Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_078441 p.Asn570Ser US rs376925978 - MFN2 O95140 VAR_078442 p.Val705Ile LB/B rs142271930 - MFN2 O95140 VAR_078443 p.Arg707Trp LP/P rs119103267 Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_078443 p.Arg707Trp LP/P rs119103267 Charcot-Marie-Tooth disease, axonal, 2A2B (CMT2A2B) [MIM:617087] MFN2 O95140 VAR_078443 p.Arg707Trp LP/P rs119103267 Lipomatosis, multiple symmetric, with or without peripheral neuropathy (MSL) [MIM:151800] MFN2 O95140 VAR_078444 p.Ala716Thr US rs144860227 - MFN2 O95140 VAR_080339 p.Ala164Val US rs1553142699 Charcot-Marie-Tooth disease, axonal, 2A2B (CMT2A2B) [MIM:617087] MFN2 O95140 VAR_080340 p.Asp214Asn US - Charcot-Marie-Tooth disease, axonal, 2A2B (CMT2A2B) [MIM:617087] MFN2 O95140 VAR_080341 p.Cys390Arg LP/P - Charcot-Marie-Tooth disease, axonal, 2A2B (CMT2A2B) [MIM:617087] MFN2 O95140 VAR_087590 p.Val112Met US - Charcot-Marie-Tooth disease, axonal, 2A2B (CMT2A2B) [MIM:617087] MFN2 O95140 VAR_088693 p.Leu92Pro LP/P - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088694 p.Arg104Trp LP/P - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088694 p.Arg104Trp LP/P - Neuropathy, hereditary motor and sensory, 6A, with optic atrophy (HMSN6A) [MIM:601152] MFN2 O95140 VAR_088695 p.Thr105Met LP/P - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088696 p.Gly108Arg LP/P - Charcot-Marie-Tooth disease, axonal, 2A2B (CMT2A2B) [MIM:617087] MFN2 O95140 VAR_088697 p.Gly127Asp LP/P - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088698 p.His128Arg US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088699 p.Ser156Ile US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088700 p.His165Asp LP/P - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088701 p.His165Arg US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088702 p.Ile203Met US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088703 p.Thr236Met US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088704 p.Val244Met US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088705 p.Asn252Lys US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088706 p.Ser263Pro US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088707 p.Gln276His US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088708 p.His277Tyr US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088709 p.Gly298Arg LP/P rs41278630 Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088711 p.Arg364Pro LP/P - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088712 p.Arg364Gln LP/P - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088713 p.Met376Thr US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088714 p.Met376Val LP/P - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088715 p.Phe665Ser US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088716 p.Trp740Cys US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088717 p.Leu745Pro US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFN2 O95140 VAR_088718 p.Met747Thr US - Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] MFNG O00587 VAR_024467 p.Arg302Cys LB/B rs8192548 - MFRP Q9BY79 VAR_025691 p.Arg54Gly LB/B rs139436396 - MFRP Q9BY79 VAR_025692 p.Ile119Val LB/B rs4639950 - MFRP Q9BY79 VAR_025693 p.Val136Met LB/B rs3814762 - MFRP Q9BY79 VAR_025694 p.Ile182Thr LP/P rs121908190 Nanophthalmos 2 (NNO2) [MIM:609549] MFRP Q9BY79 VAR_025695 p.Gly449Ser LB/B rs139725672 - MFRP Q9BY79 VAR_025696 p.Gln514His LB/B rs368172459 - MFRP Q9BY79 VAR_071160 p.Ser259Asp US - - MFRP Q9BY79 VAR_075401 p.Pro222Thr US rs767183449 - MFRP Q9BY79 VAR_075402 p.Arg517Trp US rs730882144 - MFRP Q9BY79 VAR_075403 p.Arg539Cys US rs374823079 - MFSD1 Q9H3U5 VAR_030138 p.Pro24Ser LB/B rs28364680 - MFSD1 Q9H3U5 VAR_030139 p.Lys168Glu LB/B rs17854200 - MFSD1 Q9H3U5 VAR_030140 p.Ile220Val LB/B rs3765083 - MFSD1 Q9H3U5 VAR_059466 p.Ile271Thr LB/B rs11551240 - MFSD11 O43934 VAR_035151 p.Ser428Phe LB/B rs3198672 - MFSD11 O43934 VAR_084653 p.Gly48Ala US - - MFSD12 Q6NUT3 VAR_030309 p.Tyr182His LB/B rs2240751 - MFSD12 Q6NUT3 VAR_030310 p.Arg243His LB/B rs10414812 - MFSD12 Q6NUT3 VAR_030311 p.Arg476Cys LB/B rs7252640 - MFSD12 Q6NUT3 VAR_050300 p.Ile203Val LB/B rs34562175 - MFSD12 Q6NUT3 VAR_050301 p.Gly395Ser LB/B rs34878396 - MFSD14B Q5SR56 VAR_055401 p.Val406Leu LB/B rs17851857 - MFSD2A Q8NA29 VAR_074624 p.Thr172Met LP/P rs1057517688 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) [MIM:616486] MFSD2A Q8NA29 VAR_074625 p.Ser179Leu LP/P rs1057517689 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) [MIM:616486] MFSD2A Q8NA29 VAR_074626 p.Ser352Leu LP/P rs1057519087 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) [MIM:616486] MFSD2A Q8NA29 VAR_085539 p.Thr211Met LP/P rs756467073 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) [MIM:616486] MFSD2A Q8NA29 VAR_085540 p.Val263Phe LP/P - Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) [MIM:616486] MFSD2A Q8NA29 VAR_085541 p.Arg339His LP/P rs776741331 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) [MIM:616486] MFSD2A Q8NA29 VAR_085542 p.Pro506Leu LP/P - Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) [MIM:616486] MFSD3 Q96ES6 VAR_030141 p.Gly292Arg LB/B rs2306387 - MFSD4A Q8N468 VAR_030142 p.Leu228Ile LB/B rs17857119 - MFSD4A Q8N468 VAR_030143 p.Gly314Ala LB/B rs7526132 - MFSD4B Q5TF39 VAR_033192 p.Ser93Pro LB/B rs17853558 - MFSD6 Q6ZSS7 VAR_039388 p.Arg205Gly LB/B rs9646748 - MFSD6L Q8IWD5 VAR_039389 p.Arg486His LB/B rs2242373 - MFSD8 Q8NHS3 VAR_037176 p.Val109Gly LB/B rs11732377 - MFSD8 Q8NHS3 VAR_037177 p.Gly310Asp LP/P rs118203975 Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_037178 p.Gly385Arg LB/B rs11098943 - MFSD8 Q8NHS3 VAR_037179 p.Ala423Val LB/B rs3733319 - MFSD8 Q8NHS3 VAR_037180 p.Gly429Asp LP/P rs118203976 Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_058427 p.Gly52Arg LP/P rs779838200 Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_058428 p.Tyr121Cys LP/P rs118203978 Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_058429 p.Arg139His LP/P rs749704755 Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_058430 p.Ala157Pro LP/P - Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_058431 p.Thr294Lys LP/P rs140948465 Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_058432 p.Pro447Leu LP/P - Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_058433 p.Arg465Trp LP/P rs1043984708 Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_066915 p.Thr160Ile LP/P rs1162750836 Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_066916 p.Thr160Asn LP/P - Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_066917 p.Thr458Lys LP/P - Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_066918 p.Arg465Gln LP/P rs1275962600 Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_066919 p.Met470Val LP/P rs764549054 Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_072673 p.Glu336Gln LP/P rs150418024 Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_072673 p.Glu336Gln LP/P rs150418024 Macular dystrophy with central cone involvement (CCMD) [MIM:616170] MFSD8 Q8NHS3 VAR_072674 p.Pro412Leu LP/P rs267607235 Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] MFSD9 Q8NBP5 VAR_035152 p.Ala129Ser LB/B rs7601509 - MFSD9 Q8NBP5 VAR_035153 p.Ile288Thr LB/B rs33993717 - MFSD9 Q8NBP5 VAR_035966 p.Gly59Ala US - A breast cancer sample MFSD9 Q8NBP5 VAR_035967 p.Val84Ala US - A breast cancer sample MFSD9 Q8NBP5 VAR_061383 p.Ala376Thr LB/B rs34096572 - MGA Q8IWI9 VAR_044341 p.Thr338Ala LB/B rs3803348 - MGA Q8IWI9 VAR_044342 p.Thr716Ser LB/B rs2178004 - MGA Q8IWI9 VAR_044343 p.Cys1270Arg LB/B rs17677811 - MGA Q8IWI9 VAR_057268 p.Pro1523Ala LB/B rs17677991 - MGAM O43451 VAR_047350 p.Gln404His LB/B rs2272330 - MGAM O43451 VAR_047351 p.Ser542Leu LB/B rs10266732 - MGAM O43451 VAR_047352 p.Asn858Asp LB/B rs2960746 - MGAM O43451 VAR_047353 p.Leu2534Ile LB/B rs9655651 - MGARP Q8TDB4 VAR_051256 p.Ala128Thr LB/B rs3208941 - MGAT1 P26572 VAR_028272 p.Arg223Gln LB/B rs7726005 - MGAT1 P26572 VAR_028273 p.Leu435Pro LB/B rs634501 - MGAT2 Q10469 VAR_003415 p.His262Arg LP/P rs104894447 Congenital disorder of glycosylation 2A (CDG2A) [MIM:212066] MGAT2 Q10469 VAR_003416 p.Ser290Phe LP/P rs104894446 Congenital disorder of glycosylation 2A (CDG2A) [MIM:212066] MGAT2 Q10469 VAR_012343 p.Asn318Asp LP/P rs104894448 Congenital disorder of glycosylation 2A (CDG2A) [MIM:212066] MGAT4B Q9UQ53 VAR_032446 p.Leu491Phe LB/B rs17854722 - MGAT4B Q9UQ53 VAR_053913 p.Gln257His LB/B rs190631 - MGAT4C Q9UBM8 VAR_032447 p.Thr428Ser LB/B rs17855890 - MGAT5B Q3V5L5 VAR_032452 p.Val70Ile LB/B rs571264 - MGME1 Q9BQP7 VAR_033758 p.Ser15Cys LB/B rs11551768 - MGME1 Q9BQP7 VAR_069102 p.Tyr233Cys LP/P rs587776944 Mitochondrial DNA depletion syndrome 11 (MTDPS11) [MIM:615084] MGMT P16455 VAR_014750 p.Glu30Lys LB/B rs2020893 - MGMT P16455 VAR_014751 p.Leu84Phe LB/B rs12917 - MGMT P16455 VAR_014752 p.Ile143Val LB/B rs2308321 - MGMT P16455 VAR_014753 p.Gly160Arg LB/B rs2308318 - MGMT P16455 VAR_014754 p.Glu166Asp LB/B rs2308320 - MGMT P16455 VAR_014755 p.Lys178Arg LB/B rs2308327 - MGMT P16455 VAR_020354 p.Trp65Cys LB/B rs2282164 - MGMT P16455 VAR_029112 p.Pro58Ser LB/B rs2308322 - MGMT P16455 VAR_056129 p.Leu53Phe LB/B rs12917 - MGMT P16455 VAR_056130 p.Ile112Val LB/B rs2308321 - MGP P08493 VAR_016177 p.Lys53Glu LB/B rs1801716 - MGP P08493 VAR_016178 p.Thr102Ala LB/B rs4236 - MGST2 Q99735 VAR_019997 p.Ala101Val LB/B rs8192111 - MGST3 O14880 VAR_012061 p.Gly15Cys LB/B rs1802087 - MGST3 O14880 VAR_012062 p.Pro48Ser LB/B rs1802088 - MIA2 Q96PC5 VAR_036460 p.Asp437His US - A breast cancer sample MIA2 Q96PC5 VAR_047891 p.Lys813Asn LB/B rs17855896 - MIA2 Q96PC5 VAR_047892 p.Lys858Glu LB/B rs10162564 - MIA2 Q96PC5 VAR_047893 p.Glu968Gln LB/B rs1950952 - MIA2 Q96PC5 VAR_047894 p.Asn983Ser LB/B rs17109109 - MIA2 Q96PC5 VAR_047895 p.Ile1307Val LB/B rs1140952 - MIA2 Q96PC5 VAR_047896 p.Gly1346Arg LB/B rs1060878 - MIA3 Q5JRA6 VAR_032546 p.Lys482Glu LB/B rs2936053 - MIA3 Q5JRA6 VAR_032547 p.Lys605Arg LB/B rs2936052 - MIA3 Q5JRA6 VAR_032548 p.Glu881Gly LB/B rs2936051 - MIA3 Q5JRA6 VAR_032549 p.Gly1659Cys LB/B rs17857325 - MIA3 Q5JRA6 VAR_032550 p.Lys1723Glu LB/B rs17854428 - MIB1 Q86YT6 VAR_069385 p.Arg174His LB/B rs755375969 - MIB1 Q86YT6 VAR_069620 p.Val943Phe LP/P rs200035428 Left ventricular non-compaction 7 (LVNC7) [MIM:615092] MICA Q29983 VAR_043625 p.Arg29Pro LB/B rs9380254 - MICA Q29983 VAR_043626 p.Trp37Gly LB/B rs1063630 - MICA Q29983 VAR_043627 p.Thr47Ala LB/B rs1051785 - MICA Q29983 VAR_043628 p.Val49Gly LB/B rs17200158 - MICA Q29983 VAR_043629 p.Cys59Tyr LB/B rs1051786 - MICA Q29983 VAR_043630 p.Gln114Arg LB/B rs41558312 - MICA Q29983 VAR_043631 p.Arg128Lys LB/B rs41557113 - MICA Q29983 VAR_043632 p.Gly137Arg LB/B rs41556715 - MICA Q29983 VAR_043633 p.Leu145Val LB/B rs1051790 - MICA Q29983 VAR_043634 p.Thr147Ser LB/B rs41539919 - MICA Q29983 VAR_043635 p.Lys148Glu LB/B rs1051791 - MICA Q29983 VAR_043636 p.Met152Val LB/B rs1051792 - MICA Q29983 VAR_043637 p.Val165Ile LB/B rs3819269 - MICA Q29983 VAR_043638 p.Met174Val LB/B rs41560824 - MICA Q29983 VAR_043639 p.His179Leu LB/B rs3819268 - MICA Q29983 VAR_043640 p.Lys196Glu LB/B rs1051794 - MICA Q29983 VAR_043641 p.Gly198Ser LB/B rs1131896 - MICA Q29983 VAR_043642 p.Val199Ile LB/B rs41549718 - MICA Q29983 VAR_043643 p.Thr204Arg LB/B rs1131897 - MICA Q29983 VAR_043644 p.Gly229Ser LB/B rs1131898 - MICA Q29983 VAR_043645 p.Tyr231Cys LB/B rs41546915 - MICA Q29983 VAR_043646 p.Trp233Arg LB/B rs1051798 - MICA Q29983 VAR_043647 p.Thr236Ile LB/B rs1140700 - MICA Q29983 VAR_043648 p.Ser238Thr LB/B rs1051799 - MICA Q29983 VAR_043649 p.Val244Leu LB/B rs41540613 - MICA Q29983 VAR_043650 p.Gln274Arg LB/B rs1063635 - MICA Q29983 VAR_043651 p.Arg279Ser LB/B rs41557614 - MICA Q29983 VAR_043652 p.Ser291Gly LB/B rs61759927 - MICA Q29983 VAR_043653 p.Pro294Ala LB/B rs41553616 - MICA Q29983 VAR_043662 p.Val328Ile LB/B rs72558178 - MICA Q29983 VAR_043663 p.Arg329Cys LB/B rs41554412 - MICA Q29983 VAR_043664 p.Thr356Met LB/B rs41546114 - MICA Q29983 VAR_043665 p.Asp373Ala LB/B rs9266825 - MICA Q29983 VAR_043666 p.Thr377Ala LB/B rs41545814 - MICA Q29983 VAR_043667 p.Ala383Thr LB/B rs1882 - MICA Q29983 VAR_043869 p.Trp253Ser LB/B rs72558175 - MICAL1 Q8TDZ2 VAR_017903 p.Ala758Glu LB/B rs9320288 - MICAL1 Q8TDZ2 VAR_036191 p.Leu309Met US - A breast cancer sample MICAL1 Q8TDZ2 VAR_050153 p.Ala12Thr LB/B rs4946977 - MICAL1 Q8TDZ2 VAR_050154 p.Asp153Ala LB/B rs34726911 - MICAL1 Q8TDZ2 VAR_061355 p.Ala758Thr LB/B rs59056467 - MICAL1 Q8TDZ2 VAR_067063 p.Ala12Ser LB/B rs4946977 - MICAL1 Q8TDZ2 VAR_067064 p.Arg195His LB/B rs34699467 - MICAL1 Q8TDZ2 VAR_067065 p.Arg453Cys LB/B rs17854785 - MICAL1 Q8TDZ2 VAR_067066 p.Ala624Thr LB/B rs17850590 - MICAL1 Q8TDZ2 VAR_067067 p.Ala758Lys LB/B rs35260632 - MICAL1 Q8TDZ2 VAR_067068 p.Ala758Ser LB/B rs59056467 - MICAL2 O94851 VAR_020257 p.Arg1089Gln LB/B rs2270515 - MICAL2 O94851 VAR_021992 p.Ile220Val LB/B rs2306727 - MICAL2 O94851 VAR_024523 p.Leu1106Pro LB/B rs1027335 - MICAL2 O94851 VAR_050155 p.Phe145Leu LB/B rs2706656 - MICAL2 O94851 VAR_050156 p.Asp687Glu LB/B rs3794084 - MICAL2 O94851 VAR_050157 p.Pro1110Ser LB/B rs35518829 - MICAL2 O94851 VAR_056936 p.Val1332Ile LB/B rs10741578 - MICAL2 O94851 VAR_056937 p.Tyr1355Ser LB/B rs12574273 - MICAL2 O94851 VAR_056938 p.Ala1567Thr LB/B rs1493953 - MICAL2 O94851 VAR_056939 p.Ser1575Gly LB/B rs1493954 - MICAL2 O94851 VAR_056940 p.Asp1631Glu LB/B rs3812753 - MICAL2 O94851 VAR_061684 p.Thr1733Pro LB/B rs3812754 - MICAL3 Q7RTP6 VAR_018263 p.Met750Leu LB/B rs5992128 - MICAL3 Q7RTP6 VAR_059451 p.Pro11Ala LB/B rs11913706 - MICAL3 Q7RTP6 VAR_059452 p.Arg745Gln LB/B rs2289719 - MICALL1 Q8N3F8 VAR_018262 p.Ala519Ser LB/B rs9610875 - MICALL1 Q8N3F8 VAR_020258 p.Pro583Leu LB/B rs2272829 - MICALL1 Q8N3F8 VAR_036192 p.Glu817Lys US - A breast cancer sample MICALL1 Q8N3F8 VAR_050158 p.His685Arg LB/B rs34834842 - MICALL2 Q8IY33 VAR_034071 p.Ala480Pro LB/B rs12540098 - MICALL2 Q8IY33 VAR_034072 p.Pro519Leu LB/B rs4075307 - MICALL2 Q8IY33 VAR_050159 p.Leu711Val LB/B rs11980797 - MICALL2 Q8IY33 VAR_061356 p.Lys623Arg LB/B rs61287564 - MICB Q29980 VAR_044068 p.Gly39Glu LB/B rs45578846 - MICB Q29980 VAR_044069 p.Pro68His LB/B rs45583740 - MICB Q29980 VAR_044070 p.Asn75Asp LB/B rs3131639 - MICB Q29980 VAR_044071 p.Lys80Glu LB/B rs1065075 - MICB Q29980 VAR_044072 p.Asp88Gly LB/B rs45486091 - MICB Q29980 VAR_044073 p.Asp105Gly LB/B rs45502297 - MICB Q29980 VAR_044074 p.Ile121Met LB/B rs3134900 - MICB Q29980 VAR_044075 p.Asp136Asn LB/B rs1051788 - MICB Q29980 VAR_044076 p.Thr212Ile LB/B rs41293883 - MICB Q29980 VAR_044077 p.Glu215Lys LB/B rs45624537 - MICB Q29980 VAR_044078 p.Arg279Lys LB/B rs45587032 - MICB Q29980 VAR_044079 p.Gly291Ser LB/B rs41273040 - MICB Q29980 VAR_044080 p.Ala300Val LB/B rs45470602 - MICB Q29980 VAR_044081 p.Thr383Ala LB/B rs1065076 - MICB Q29980 VAR_059527 p.Asp136His LB/B rs1051788 - MICU2 Q8IYU8 VAR_027662 p.Gln260Leu LB/B rs17853349 - MID1 O15344 VAR_013758 p.Cys266Arg LP/P - Opitz GBBB syndrome (GBBB) [MIM:300000] MID1 O15344 VAR_013761 p.Ile536Thr LP/P - Opitz GBBB syndrome (GBBB) [MIM:300000] MID1 O15344 VAR_013762 p.Leu626Pro LP/P rs28934611 Opitz GBBB syndrome (GBBB) [MIM:300000] MID1 O15344 VAR_025495 p.Leu295Pro LP/P rs104894866 Opitz GBBB syndrome (GBBB) [MIM:300000] MID2 Q9UJV3 VAR_052123 p.Ala378Asp LB/B rs12849510 - MID2 Q9UJV3 VAR_071835 p.Asn343Ser LB/B rs551253128 - MID2 Q9UJV3 VAR_071836 p.Arg347Gln LP/P rs587777605 Intellectual developmental disorder, X-linked 101 (XLID101) [MIM:300928] MIDEAS Q6PJG2 VAR_050182 p.Ala86Val LB/B rs35302179 - MIDEAS Q6PJG2 VAR_050183 p.Pro554Leu LB/B rs17782124 - MIDEAS Q6PJG2 VAR_061361 p.Asp895Asn LB/B rs35905570 - MIEF1 Q9NQG6 VAR_037040 p.Gly78Arg LB/B rs2272830 - MIEF1 Q9NQG6 VAR_037041 p.Thr89Met LB/B rs17001213 - MIEF1 Q9NQG6 VAR_037042 p.Arg169Trp LB/B rs2232088 - MIEF1 Q9NQG6 VAR_037043 p.Asp264Asn LB/B rs2232091 - MIEF2 Q96C03 VAR_037038 p.Gly324Glu LB/B rs12603700 - MIEF2 Q96C03 VAR_037039 p.Arg354Gln LB/B rs3751981 - MIER2 Q8N344 VAR_037695 p.Asp68Asn LB/B rs7507468 - MIER2 Q8N344 VAR_037696 p.Asp104Asn LB/B rs10421231 - MIER2 Q8N344 VAR_037697 p.Pro464Ser LB/B rs34129568 - MIER2 Q8N344 VAR_037698 p.Ser485Gly LB/B rs35042658 - MIER2 Q8N344 VAR_078065 p.Arg289Trp LB/B rs148482834 - MIER3 Q7Z3K6 VAR_037699 p.Asp126Gly LB/B rs17854108 - MIER3 Q7Z3K6 VAR_037700 p.Asn414Lys LB/B rs13177917 - MIER3 Q7Z3K6 VAR_037701 p.Asn432Asp LB/B rs13181823 - MIER3 Q7Z3K6 VAR_037702 p.Asn530Ser LB/B rs36017815 - MIGA2 Q7L4E1 VAR_037690 p.Glu78Lys LB/B rs6478859 - MIGA2 Q7L4E1 VAR_037691 p.Val100Ala LB/B rs11544968 - MIGA2 Q7L4E1 VAR_037692 p.Gly212Ser LB/B rs17452596 - MIIP Q5JXC2 VAR_039729 p.Lys99Asn LB/B rs11553925 - MIIP Q5JXC2 VAR_039730 p.Pro142Ser LB/B rs11588712 - MIIP Q5JXC2 VAR_039731 p.Lys167Glu LB/B rs2295283 - MIIP Q5JXC2 VAR_059688 p.Arg247Trp LB/B rs2295289 - MIIP Q5JXC2 VAR_059689 p.Ser288Leu LB/B rs35317667 - MIIP Q5JXC2 VAR_059690 p.Pro381Ser LB/B rs34874602 - MINAR1 Q9UPX6 VAR_022042 p.Ile832Val LB/B rs2297773 - MINAR1 Q9UPX6 VAR_034044 p.Val320Phe LB/B rs11634652 - MINDY1 Q8N5J2 VAR_044541 p.Thr385Lys LB/B rs2925741 - MINDY4 Q4G0A6 VAR_039212 p.Asp183Ala LB/B rs34357272 - MINDY4 Q4G0A6 VAR_039213 p.Ser262Leu LB/B rs17159453 - MINDY4 Q4G0A6 VAR_039214 p.Thr322Met LB/B rs12701034 - MINDY4 Q4G0A6 VAR_039215 p.Arg324Lys LB/B rs35897481 - MINDY4 Q4G0A6 VAR_039216 p.Ala355Val LB/B rs12672119 - MINDY4 Q4G0A6 VAR_039217 p.Met655Val LB/B rs10216063 - MINDY4 Q4G0A6 VAR_062248 p.Cys465Tyr LB/B rs34970833 - MINK1 Q8N4C8 VAR_040799 p.Ala514Thr LB/B rs56131206 - MINK1 Q8N4C8 VAR_040800 p.Ile1200Val LB/B - - MINK1 Q8N4C8 VAR_046058 p.Val771Ala LB/B rs11556634 - MINK1 Q8N4C8 VAR_046059 p.Pro775Leu LB/B rs11556635 - MINK1 Q8N4C8 VAR_046060 p.Val863Ile LB/B rs2302319 - MINK1 Q8N4C8 VAR_046061 p.Glu1010Val US - A gastric adenocarcinoma sample MINPP1 Q9UNW1 VAR_022836 p.Ser41Leu LP/P rs119486096 Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] MINPP1 Q9UNW1 VAR_022837 p.Gln270Arg LP/P rs104894171 Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] MINPP1 Q9UNW1 VAR_086289 p.Tyr53Asp LP/P - Pontocerebellar hypoplasia 16 (PCH16) [MIM:619527] MINPP1 Q9UNW1 VAR_086290 p.Phe228Leu US rs1456945513 Pontocerebellar hypoplasia 16 (PCH16) [MIM:619527] MINPP1 Q9UNW1 VAR_086291 p.Ala284Asp US - Pontocerebellar hypoplasia 16 (PCH16) [MIM:619527] MINPP1 Q9UNW1 VAR_086292 p.Ile331Ser US - Pontocerebellar hypoplasia 16 (PCH16) [MIM:619527] MINPP1 Q9UNW1 VAR_086293 p.Arg401Gln US rs1381093602 Pontocerebellar hypoplasia 16 (PCH16) [MIM:619527] MINPP1 Q9UNW1 VAR_086295 p.Glu486Lys US - Pontocerebellar hypoplasia 16 (PCH16) [MIM:619527] MIP P30301 VAR_011497 p.Glu134Gly LP/P rs121917869 Cataract 15, multiple types (CTRCT15) [MIM:615274] MIP P30301 VAR_011498 p.Thr138Arg LP/P rs121917867 Cataract 15, multiple types (CTRCT15) [MIM:615274] MIP P30301 VAR_071601 p.Arg33Cys LP/P rs864309693 Cataract 15, multiple types (CTRCT15) [MIM:615274] MIP P30301 VAR_071602 p.Val107Ile LP/P rs74641138 Cataract 15, multiple types (CTRCT15) [MIM:615274] MIP P30301 VAR_071603 p.Arg187Cys LP/P rs267603585 Cataract 15, multiple types (CTRCT15) [MIM:615274] MIP P30301 VAR_071604 p.Arg233Lys LP/P rs1555179699 Cataract 15, multiple types (CTRCT15) [MIM:615274] MIP P30301 VAR_075528 p.Asp150His LP/P rs778327521 Cataract 15, multiple types (CTRCT15) [MIM:615274] MIP P30301 VAR_075529 p.Gly165Asp US - Cataract 15, multiple types (CTRCT15) [MIM:615274] MIP P30301 VAR_084819 p.Tyr177Cys US - Cataract 15, multiple types (CTRCT15) [MIM:615274] MIPEP Q99797 VAR_038934 p.Ala137Val LB/B rs2312296 - MIPEP Q99797 VAR_038935 p.Arg340Gln LB/B rs11551114 - MIPEP Q99797 VAR_038936 p.Arg453His LB/B rs12858248 - MIPEP Q99797 VAR_038937 p.Ser488Gly LB/B rs7333040 - MIPEP Q99797 VAR_078009 p.Leu71Gln LP/P rs1057518740 Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228] MIPEP Q99797 VAR_078010 p.Leu306Phe LP/P rs143912947 Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228] MIPEP Q99797 VAR_078011 p.Lys343Glu LP/P rs1057518741 Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228] MIPEP Q99797 VAR_078012 p.His512Asp US rs779598020 Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228] MIPEP Q99797 VAR_078013 p.Leu582Arg US rs1057518739 Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228] MIPOL1 Q8TD10 VAR_034095 p.Gln141Leu LB/B rs35870036 - MIR1-1HG Q9H1L0 VAR_019655 p.Val27Ala LB/B rs6062251 - MIR1915HG Q5T4H9 VAR_033739 p.Arg73Pro LB/B rs11012724 - MIR7-3HG Q8N6C7 VAR_030681 p.Arg73Ser LB/B rs11878617 - MIR7-3HG Q8N6C7 VAR_030682 p.His91Gln LB/B rs3760955 - MIS12 Q9H081 VAR_034106 p.Met21Val LB/B rs16954781 - MIS18BP1 Q6P0N0 VAR_050184 p.Cys164Arg LB/B rs1269008 - MIS18BP1 Q6P0N0 VAR_050185 p.Pro347Arg LB/B rs34168608 - MIS18BP1 Q6P0N0 VAR_050186 p.Glu583Asp LB/B rs34101857 - MIS18BP1 Q6P0N0 VAR_050187 p.Glu851Gln LB/B rs34402741 - MISP Q8IVT2 VAR_033754 p.Ser156Gly LB/B rs3746173 - MISP Q8IVT2 VAR_033755 p.Lys232Arg LB/B rs3746175 - MISP Q8IVT2 VAR_033756 p.Glu653Gly LB/B rs8107847 - MISP Q8IVT2 VAR_050910 p.Ser269Asn LB/B rs35384259 - MISP Q8IVT2 VAR_061629 p.Ala99Thr LB/B rs45477999 - MISP3 Q96FF7 VAR_039392 p.Val198Ala LB/B rs7258963 - MITF O75030 VAR_010297 p.Arg310Lys US - Waardenburg syndrome 2A (WS2A) [MIM:193510] MITF O75030 VAR_010298 p.Asn317Lys LP/P rs104893745 Tietz albinism-deafness syndrome (TADS) [MIM:103500] MITF O75030 VAR_010300 p.Ser357Pro LP/P rs104893744 Waardenburg syndrome 2A (WS2A) [MIM:193510] MITF O75030 VAR_010301 p.Asn385Asp LP/P - Waardenburg syndrome 2A (WS2A) [MIM:193510] MITF O75030 VAR_010302 p.Ser405Pro LP/P rs104893747 Waardenburg syndrome 2A (WS2A) [MIM:193510] MITF O75030 VAR_067367 p.Glu425Lys LB/B rs149617956 - MITF O75030 VAR_077922 p.Lys313Asn LP/P rs1057519325 Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD) [MIM:617306] MITF O75030 VAR_077923 p.Arg324Gly LP/P rs1057519326 Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD) [MIM:617306] MITF O75030 VAR_078311 p.Ala294Thr US rs1559742541 Waardenburg syndrome 2A (WS2A) [MIM:193510] MKI67 P46013 VAR_014858 p.Thr3150Ser LB/B rs11106 - MKI67 P46013 VAR_014859 p.Lys3217Glu LB/B rs8473 - MKI67 P46013 VAR_020047 p.Glu1403Val LB/B rs3740423 - MKI67 P46013 VAR_021838 p.Thr1247Ile LB/B rs4750685 - MKI67 P46013 VAR_024161 p.Ile631Leu LB/B rs997983 - MKI67 P46013 VAR_024162 p.Leu854Val LB/B rs2240 - MKI67 P46013 VAR_024163 p.Gly1042Ser LB/B rs2152143 - MKI67 P46013 VAR_024164 p.Thr2337Asn LB/B rs7083622 - MKI67 P46013 VAR_024165 p.Pro2608Leu LB/B rs1063535 - MKI67 P46013 VAR_024166 p.Thr2720Pro LB/B rs1050767 - MKI67 P46013 VAR_024167 p.Thr2868Ser LB/B rs2071496 - MKI67 P46013 VAR_029055 p.Asn104Ser LB/B rs2071498 - MKI67 P46013 VAR_029056 p.Trp238Arg LB/B rs7095325 - MKI67 P46013 VAR_029057 p.Glu497Asp LB/B rs11016076 - MKI67 P46013 VAR_029058 p.Gln574Pro LB/B rs4471342 - MKI67 P46013 VAR_029059 p.Ala872Val LB/B rs2853344 - MKI67 P46013 VAR_029060 p.Thr1120Ser LB/B rs11016074 - MKI67 P46013 VAR_029061 p.Leu1470Trp LB/B rs2853345 - MKI67 P46013 VAR_029062 p.Val1559Met LB/B rs7918199 - MKI67 P46013 VAR_029063 p.Pro1622Leu LB/B rs2782871 - MKI67 P46013 VAR_029064 p.Thr1849Ala LB/B rs2782872 - MKI67 P46013 VAR_029065 p.Arg1876Gln LB/B rs11591817 - MKI67 P46013 VAR_029066 p.Ile2101Thr LB/B rs11016073 - MKI67 P46013 VAR_029067 p.Asn2363Ser LB/B rs7071768 - MKI67 P46013 VAR_029068 p.Arg2649His LB/B rs12777740 - MKI67 P46013 VAR_029069 p.Asp2760Gly LB/B rs10082391 - MKI67 P46013 VAR_029070 p.Arg2786Gln LB/B rs10764749 - MKI67 P46013 VAR_029071 p.Ser2793Asn LB/B rs10082533 - MKI67 P46013 VAR_029072 p.Arg2845His LB/B rs11016072 - MKI67 P46013 VAR_029073 p.Gln2904Arg LB/B rs11016071 - MKI67 P46013 VAR_029074 p.Asn3097Asp LB/B rs2798669 - MKI67 P46013 VAR_033995 p.Arg832Trp LB/B rs34916904 - MKI67 P46013 VAR_033996 p.Leu1951Ile LB/B rs34116632 - MKI67 P46013 VAR_033997 p.Glu3102Gly LB/B rs34750407 - MKI67 P46013 VAR_061671 p.Arg2607His LB/B rs34688192 - MKKS Q9NPJ1 VAR_009864 p.Tyr37Cys LP/P rs74315396 Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_009864 p.Tyr37Cys LP/P rs74315396 McKusick-Kaufman syndrome (MKKS) [MIM:236700] MKKS Q9NPJ1 VAR_009865 p.Gly49Val LB/B rs528833454 - MKKS Q9NPJ1 VAR_009866 p.His84Tyr LP/P rs281797258 McKusick-Kaufman syndrome (MKKS) [MIM:236700] MKKS Q9NPJ1 VAR_009867 p.Ala242Ser US rs74315394 Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_009867 p.Ala242Ser US rs74315394 McKusick-Kaufman syndrome (MKKS) [MIM:236700] MKKS Q9NPJ1 VAR_009868 p.Arg517Cys LB/B rs1547 - MKKS Q9NPJ1 VAR_009869 p.Gly532Val LB/B rs1545 - MKKS Q9NPJ1 VAR_009882 p.Gly52Asp LP/P rs28937875 Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_009883 p.Thr57Ala LP/P rs74315399 Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_009884 p.Leu277Pro LP/P rs74315398 Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_013161 p.Cys499Ser LP/P rs281797259 Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_017035 p.Ile32Met LP/P - Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_017036 p.Ser236Pro LP/P - Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_017037 p.Asp286Ala LP/P - Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_017038 p.Ser511Ala LP/P - Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_017039 p.Arg518His LP/P rs149051148 Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_017040 p.Arg155Leu LP/P rs138111422 Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_017041 p.Ile339Val LB/B rs137853909 - MKKS Q9NPJ1 VAR_017042 p.Gly345Glu LP/P rs779116830 Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_038898 p.Ala181Pro LP/P - Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_038899 p.Thr237Ala LP/P rs760185677 Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_038900 p.Thr237Pro LP/P - Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_038901 p.Thr325Pro LB/B rs137853156 - MKKS Q9NPJ1 VAR_038902 p.Ser460Pro LP/P - Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_038903 p.Asp492Asn US rs142327258 Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_066262 p.Gly41Arg LP/P rs766132697 Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_066263 p.Cys99Arg LP/P rs1297985227 Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_066264 p.Pro299Leu LP/P rs756083063 Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS Q9NPJ1 VAR_066265 p.Ala488Thr US rs61734546 - MKKS Q9NPJ1 VAR_077208 p.His395Arg LP/P rs912923677 Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKLN1 Q9UL63 VAR_050057 p.Cys469Gly LB/B rs323844 - MKNK1 Q9BUB5 VAR_040801 p.Lys49Gln LB/B rs56351860 - MKNK1 Q9BUB5 VAR_040802 p.Leu158Val LB/B rs56408722 - MKNK1 Q9BUB5 VAR_040803 p.Asp308Asn LB/B rs55791614 - MKNK1 Q9BUB5 VAR_040804 p.Arg446Gln LB/B rs34881418 - MKNK2 Q9HBH9 VAR_040805 p.Asp73Asn LB/B rs56158214 - MKNK2 Q9HBH9 VAR_051648 p.Gln10Lys LB/B rs3746101 - MKNK2 Q9HBH9 VAR_051649 p.Arg428Gln LB/B rs34475638 - MKRN1 Q9UHC7 VAR_012161 p.Val243Leu LB/B rs2272095 - MKRN1 Q9UHC7 VAR_057214 p.Val439Ala LB/B rs1062786 - MKRN2 Q9H000 VAR_052085 p.Arg388Gln LB/B rs5746260 - MKRN3 Q13064 VAR_035955 p.Thr145Met US rs371642799 A colorectal cancer sample MKRN3 Q13064 VAR_035956 p.Ser239Thr US - A colorectal cancer sample MKRN3 Q13064 VAR_070103 p.Arg365Ser LP/P rs879255240 Precocious puberty, central 2 (CPPB2) [MIM:615346] MKRN3 Q13064 VAR_073023 p.Cys340Gly LP/P - Precocious puberty, central 2 (CPPB2) [MIM:615346] MKRN3 Q13064 VAR_073024 p.Phe417Ile LP/P - Precocious puberty, central 2 (CPPB2) [MIM:615346] MKRN3 Q13064 VAR_073025 p.His420Gln LP/P rs755791221 Precocious puberty, central 2 (CPPB2) [MIM:615346] MKS1 Q9NXB0 VAR_060161 p.Leu39Phe LB/B rs11653070 - MKS1 Q9NXB0 VAR_062287 p.Arg123Gln LB/B rs202112856 - MKS1 Q9NXB0 VAR_062288 p.Arg166Trp US rs201845154 Meckel syndrome 1 (MKS1) [MIM:249000] MKS1 Q9NXB0 VAR_062289 p.Asp286Gly LB/B rs151023718 - MKS1 Q9NXB0 VAR_062291 p.Ile450Thr LB/B rs200865108 - MKS1 Q9NXB0 VAR_062292 p.Cys492Trp LP/P rs137853105 Bardet-Biedl syndrome 13 (BBS13) [MIM:615990] MKS1 Q9NXB0 VAR_077515 p.Asp19Tyr LP/P rs863225205 Meckel syndrome 1 (MKS1) [MIM:249000] MKS1 Q9NXB0 VAR_077516 p.Trp80Cys US rs1114167302 - MKS1 Q9NXB0 VAR_077517 p.Gly317Glu US rs863225208 Meckel syndrome 1 (MKS1) [MIM:249000] MKS1 Q9NXB0 VAR_077519 p.Ser403Leu US rs773684291 Meckel syndrome 1 (MKS1) [MIM:249000] MKS1 Q9NXB0 VAR_077520 p.Pro421Ser US rs863225210 Meckel syndrome 1 (MKS1) [MIM:249000] MKX Q8IYA7 VAR_033875 p.Arg40His LB/B rs34439626 - MLC1 Q15049 VAR_011699 p.Ser93Leu LP/P rs80358245 Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_011700 p.Thr118Arg LP/P rs281875316 Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_011701 p.Gly212Arg LP/P rs281875317 Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_011702 p.Ser280Leu LP/P rs121908341 Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_012731 p.Leu309Met LB/B rs80358240 - MLC1 Q15049 VAR_017438 p.Gly59Glu LP/P rs80358242 Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_017439 p.Pro92Ser LP/P rs121908345 Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_017440 p.Asn141Lys LP/P rs121908343 Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_017441 p.Asn141Ser LP/P rs121908344 Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_051186 p.Cys171Phe LB/B rs6010260 - MLC1 Q15049 VAR_051187 p.Asn344Ser LB/B rs11568188 - MLC1 Q15049 VAR_067762 p.Ser69Leu LP/P rs281875309 Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_067763 p.Met80Ile LP/P rs281875310 Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_067764 p.Arg84Cys LP/P rs281875311 Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_067765 p.Cys125Arg LP/P rs281875314 Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_067766 p.Ala245Pro LP/P rs281875312 Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_067767 p.Ser246Arg LP/P rs281875315 Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_067768 p.Thr320Lys LP/P rs281875313 Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) [MIM:604004] MLF1 P58340 VAR_022070 p.Pro226Thr LB/B rs15967 - MLF2 Q15773 VAR_036429 p.Phe80Cys US - A colorectal cancer sample MLH1 P40692 VAR_004433 p.Pro28Leu LP/P rs63750792 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004434 p.Met35Arg LP/P rs63749906 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004436 p.Ser44Phe LP/P rs63751109 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004437 p.Gln62Lys LP/P rs63751428 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004438 p.Asn64Ser LP/P rs63750952 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004439 p.Gly67Arg LP/P rs63750206 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004440 p.Ile68Asn LP/P rs63750281 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004441 p.Arg69Lys LP/P rs63751661 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004442 p.Cys77Arg LP/P rs63749859 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004443 p.Ser93Gly LB/B rs41295282 - MLH1 P40692 VAR_004444 p.Ile107Arg LP/P rs63750507 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004445 p.Thr117Met LP/P rs63750781 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004446 p.Thr117Arg LP/P rs63750781 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004447 p.Val185Gly LP/P rs63750515 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004448 p.Ser193Pro LP/P rs63751021 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004449 p.Arg217Cys US rs4986984 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004450 p.Ile219Val LB/B rs1799977 - MLH1 P40692 VAR_004451 p.Arg226Leu LP/P rs63751711 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004453 p.Val326Ala LP/P rs63751049 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004454 p.Val384Asp LB/B rs63750447 - MLH1 P40692 VAR_004455 p.Ala492Thr LP/P rs63751145 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004456 p.Val506Ala LP/P rs63749909 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004457 p.Gln542Leu LP/P rs63750511 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004458 p.Leu574Pro LP/P rs63751608 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004459 p.Glu578Gly US rs63751612 Colorectal cancer (CRC) [MIM:114500] MLH1 P40692 VAR_004459 p.Glu578Gly US rs63751612 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004460 p.Leu582Val LP/P rs63751713 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004462 p.Lys618Ala US rs35502531 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004463 p.Lys618Thr LP/P rs63750449 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004465 p.Arg659Pro LP/P rs63749900 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004466 p.Ala681Thr LP/P rs63750217 Colorectal cancer (CRC) [MIM:114500] MLH1 P40692 VAR_004466 p.Ala681Thr LP/P rs63750217 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004467 p.His718Tyr US rs2020873 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_004468 p.Leu729Val LB/B rs1800149 - MLH1 P40692 VAR_012902 p.Gly54Glu US rs63751267 Colorectal cancer (CRC) [MIM:114500] MLH1 P40692 VAR_012903 p.Gly67Trp LP/P rs63750206 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012904 p.Cys77Tyr LP/P rs63750437 Colorectal cancer (CRC) [MIM:114500] MLH1 P40692 VAR_012905 p.Phe80Val LP/P rs63749990 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012906 p.Lys84Glu LP/P rs63750641 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012907 p.Ala111Val US rs63750539 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012908 p.Ala128Pro LP/P rs63750866 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012909 p.Arg182Gly LP/P rs63750211 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012910 p.Val213Met LB/B rs2308317 - MLH1 P40692 VAR_012911 p.Gly244Asp LP/P rs63750303 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012912 p.Gly244Val US rs63750303 Colorectal cancer (CRC) [MIM:114500] MLH1 P40692 VAR_012914 p.Arg265His LB/B rs63751448 - MLH1 P40692 VAR_012915 p.Glu268Gly LP/P rs63750650 Colorectal cancer (CRC) [MIM:114500] MLH1 P40692 VAR_012916 p.Ser295Thr LP/P rs63750144 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012917 p.Arg325Gln US rs63750268 Colorectal cancer (CRC) [MIM:114500] MLH1 P40692 VAR_012918 p.His329Pro LP/P rs63750710 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012919 p.Ser406Asn LB/B rs41294980 - MLH1 P40692 VAR_012920 p.Ala441Thr LP/P rs63750365 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012921 p.Leu549Pro LP/P rs63750289 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012922 p.Asn551Thr LP/P rs63750271 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012923 p.Ile565Phe LP/P rs63750062 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012924 p.Leu588Pro LP/P rs63750575 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012925 p.Pro603Arg US rs63750876 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012926 p.Leu607His US rs41295284 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012927 p.Leu622His LP/P rs63750693 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012928 p.Pro648Leu US rs63750610 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012929 p.Arg659Leu LP/P rs63749900 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012930 p.Thr662Pro US rs587778964 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012931 p.Arg687Trp US rs63751275 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012932 p.Gln689Arg US rs63750702 - MLH1 P40692 VAR_012933 p.Val716Met LB/B rs35831931 - MLH1 P40692 VAR_012934 p.Lys751Arg US rs140195825 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_012935 p.Arg755Trp LB/B rs267607900 - MLH1 P40692 VAR_014876 p.Ile32Val LB/B rs2020872 - MLH1 P40692 VAR_015689 p.Ala586Pro LP/P rs63751176 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_020469 p.Arg217Gly LB/B - - MLH1 P40692 VAR_022663 p.Arg18Cys LP/P rs367654552 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_022664 p.Gly101Asp LP/P rs267607727 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_022665 p.Asp132His LP/P rs28930073 Colorectal cancer (CRC) [MIM:114500] MLH1 P40692 VAR_022666 p.Arg182Lys LP/P rs587779021 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_022667 p.Tyr379Cys LP/P rs143009528 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_022668 p.Leu559Arg LP/P rs63750059 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_022669 p.Pro648Ser LP/P rs63750899 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_038023 p.Gly22Ala LB/B rs41295280 - MLH1 P40692 VAR_038024 p.Gly67Glu LP/P rs63749939 Colorectal cancer (CRC) [MIM:114500] MLH1 P40692 VAR_038025 p.Pro309Ser LB/B rs267607808 - MLH1 P40692 VAR_043383 p.Ile19Phe US rs63750648 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043384 p.Ala21Val LP/P rs63750706 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043385 p.Ile25Phe LP/P rs63749838 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043386 p.Ala29Ser US rs63750656 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043387 p.Met35Lys US - Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043388 p.Met35Asn LP/P rs121912965 Mismatch repair cancer syndrome 1 (MMRCS1) [MIM:276300] MLH1 P40692 VAR_043389 p.Asn38His LP/P rs63750580 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043390 p.Asp41Gly LP/P rs63751094 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043392 p.Asp63Glu LP/P rs587778955 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043394 p.Glu102Lys US rs63750453 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043395 p.Ser106Arg US rs63750297 Gastric cancer MLH1 P40692 VAR_043396 p.His109Gln US rs63749803 Gastric cancer MLH1 P40692 VAR_043397 p.Leu155Arg LP/P rs63750891 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043398 p.Val185Leu US rs63750012 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043399 p.Glu234Gly US rs63750696 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043400 p.Ser247Pro LP/P rs63750948 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043401 p.Leu260Arg LP/P rs63751283 Colorectal cancer (CRC) [MIM:114500] MLH1 P40692 VAR_043402 p.His264Tyr LP/P rs63751597 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043403 p.Ala282Gly LP/P rs63750360 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043404 p.Leu292Pro US rs63750517 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043405 p.Asp304Val LP/P rs63750993 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043406 p.Ser321Ile US rs63750286 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043409 p.Asn338Ser LP/P rs63751467 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043410 p.Arg385Cys US rs63750760 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043411 p.Arg385Pro US rs63750430 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043412 p.Lys443Gln US rs34213726 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043413 p.Arg472Ile US rs63750498 Colorectal cancer (CRC) [MIM:114500] MLH1 P40692 VAR_043414 p.Arg474Gln US rs63751083 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043415 p.Asp485Glu LP/P rs63750956 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043416 p.Asp485His US rs63750314 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043417 p.Gln542Pro LP/P rs63750511 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043418 p.Leu550Pro LP/P rs63750193 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043419 p.Ala589Asp LP/P rs63750016 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043421 p.Asp601Gly US rs63750718 Colorectal cancer (CRC) [MIM:114500] MLH1 P40692 VAR_043424 p.Lys618Arg LP/P rs63750449 Colorectal cancer (CRC) [MIM:114500] MLH1 P40692 VAR_043425 p.Ala623Pro US rs587778951 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043426 p.Asp631Ala US rs63750240 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043427 p.Asn635Lys US rs63751047 Gastric cancer MLH1 P40692 VAR_043428 p.Leu636Pro LP/P rs63750825 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043429 p.Pro640Ser LP/P rs63749792 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043430 p.Tyr646Cys LP/P rs35045067 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043431 p.Pro654Leu LP/P rs63750726 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043432 p.Ile655Val LP/P rs55907433 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043434 p.Arg659Gln US rs63749900 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043436 p.Leu724Met LP/P rs63749875 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_043437 p.Leu749Pro LP/P rs267607894 Colorectal cancer (CRC) [MIM:114500] MLH1 P40692 VAR_054522 p.Asp41His LB/B rs267607713 - MLH1 P40692 VAR_054523 p.Gly98Ser LB/B rs267607725 - MLH1 P40692 VAR_054524 p.Gly101Ser LB/B rs267607726 - MLH1 P40692 VAR_054525 p.Thr116Lys LB/B rs63750465 - MLH1 P40692 VAR_054526 p.Tyr126Asn LB/B rs200076893 - MLH1 P40692 VAR_054527 p.Asn215Ser LB/B rs267607775 - MLH1 P40692 VAR_054528 p.Ile216Ser LB/B rs267607776 - MLH1 P40692 VAR_054529 p.Leu260Phe US rs63750642 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_054530 p.Arg265Cys LP/P rs63751194 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_054531 p.Glu320Asp LB/B rs267607811 - MLH1 P40692 VAR_054532 p.Arg474Trp LB/B rs147939838 - MLH1 P40692 VAR_054533 p.Ala539Asp LB/B rs267607843 - MLH1 P40692 VAR_054534 p.Leu585Arg LB/B rs267607865 - MLH1 P40692 VAR_054535 p.Ala619Pro LB/B rs267607866 - MLH1 P40692 VAR_054536 p.Pro640Leu LB/B rs267607875 - MLH1 P40692 VAR_054537 p.Phe656Ser LP/P rs267607876 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_054538 p.Trp666Arg US rs267607887 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_076338 p.Ala31Cys LP/P rs63749994 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_076339 p.Glu37Lys LP/P rs63751012 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_076340 p.Asn38Lys LP/P rs267607706 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_076341 p.His109Pro LP/P rs587779004 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_076342 p.Ala111Pro LP/P rs587779005 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_076344 p.Arg265Ser LP/P rs63751194 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_076345 p.Arg389Trp US rs61751644 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_076346 p.Pro403Ser LB/B rs587778897 - MLH1 P40692 VAR_076347 p.Glu460Ala US rs202038499 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_076349 p.Leu582Phe LP/P rs63751713 Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1 P40692 VAR_079812 p.Thr116Arg LB/B rs63750465 - MLH1 P40692 VAR_079813 p.Val213Leu LB/B rs2308317 - MLH1 P40692 VAR_079814 p.His264Leu LB/B rs63751664 - MLH1 P40692 VAR_079815 p.Arg423Thr LB/B rs370687064 - MLH1 P40692 VAR_079816 p.Arg725His LB/B rs566928243 - MLH3 Q9UHC1 VAR_010790 p.His494Arg LB/B rs760778201 - MLH3 Q9UHC1 VAR_012946 p.Gln24Glu LP/P rs28937870 Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_012947 p.Asn499Ser LP/P rs28937871 Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_012948 p.Glu624Gln LP/P rs28756986 Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_012949 p.Arg647Cys LP/P rs28756987 Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_012950 p.Ser817Gly LP/P rs143278116 Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_012951 p.Gly981Ser LP/P rs377337763 Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_012952 p.Asn1007Ser LP/P rs776639203 Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_012953 p.Ala1394Thr LP/P rs138006166 Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_012954 p.Glu1451Lys LP/P rs28939071 Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_023338 p.Arg93Gly LB/B rs28756978 - MLH3 Q9UHC1 VAR_023339 p.Phe120Ser LB/B rs28756979 - MLH3 Q9UHC1 VAR_023340 p.Lys231Gln LB/B rs28756981 - MLH3 Q9UHC1 VAR_023341 p.Val420Ile LB/B rs28756982 - MLH3 Q9UHC1 VAR_023342 p.Leu492Val LB/B rs28756983 - MLH3 Q9UHC1 VAR_023343 p.Arg600Gln LB/B rs28756984 - MLH3 Q9UHC1 VAR_023344 p.Thr606Pro LB/B rs28756985 - MLH3 Q9UHC1 VAR_023345 p.Tyr720Cys LB/B rs28756988 - MLH3 Q9UHC1 VAR_023346 p.Val723Ile LB/B rs28756989 - MLH3 Q9UHC1 VAR_023347 p.Val741Phe LB/B rs28756990 - MLH3 Q9UHC1 VAR_023348 p.Arg797His LB/B rs28756991 - MLH3 Q9UHC1 VAR_023349 p.Pro844Leu LB/B rs175080 - MLH3 Q9UHC1 VAR_023350 p.Ser845Gly LB/B rs28756992 - MLH3 Q9UHC1 VAR_023351 p.Thr942Ile LB/B rs17102999 - MLH3 Q9UHC1 VAR_023352 p.Ser966Pro LB/B rs17782839 - MLH3 Q9UHC1 VAR_023353 p.Asp1073Asn LB/B rs28756993 - MLH3 Q9UHC1 VAR_023354 p.Asp1105Glu LB/B rs28757008 - MLH3 Q9UHC1 VAR_023355 p.Gly1163Asp LB/B rs28757011 - MLH3 Q9UHC1 VAR_023356 p.Gly1319Arg LB/B - - MLH3 Q9UHC1 VAR_036781 p.Asn826Asp LB/B rs175081 - MLIP Q5VWP3 VAR_023381 p.Val170Ile LB/B rs4712056 - MLIP Q5VWP3 VAR_023382 p.Ser855Thr LB/B rs6934690 - MLIP Q5VWP3 VAR_056800 p.Pro911Ser LB/B rs2275769 - MLKL Q8NB16 VAR_041350 p.Ser52Thr LB/B rs34251827 - MLKL Q8NB16 VAR_041351 p.Asp100Glu LB/B rs33987771 - MLKL Q8NB16 VAR_041352 p.Ser132Pro LB/B rs35589326 - MLKL Q8NB16 VAR_041353 p.Arg146Gln LB/B rs34515646 - MLKL Q8NB16 VAR_041354 p.Met169Leu LB/B rs55929310 - MLKL Q8NB16 VAR_041355 p.Leu291Pro US rs1313508921 A gastric adenocarcinoma sample MLKL Q8NB16 VAR_041356 p.Thr364Met LB/B rs34389205 - MLKL Q8NB16 VAR_041357 p.Phe398Ile US - A gastric adenocarcinoma sample MLKL Q8NB16 VAR_041358 p.Arg421His LB/B rs55987292 - MLLT6 P55198 VAR_022076 p.Ala198Thr LB/B rs2241012 - MLLT6 P55198 VAR_080170 p.Ala33Val LB/B rs17855918 - MLN P12872 VAR_020372 p.Val15Ala LB/B rs2281820 - MLPH Q9BV36 VAR_015690 p.Arg139Trp LB/B rs2292880 - MLPH Q9BV36 VAR_015691 p.Leu153Pro LB/B rs3751109 - MLPH Q9BV36 VAR_015692 p.Asp163Asn LB/B rs3751108 - MLPH Q9BV36 VAR_015693 p.Gly172Asp LB/B rs3751107 - MLPH Q9BV36 VAR_015694 p.His347Arg LB/B rs2292884 - MLPH Q9BV36 VAR_015695 p.Val374Ala LB/B rs3817362 - MLPH Q9BV36 VAR_018724 p.Arg35Trp LP/P rs119473031 Griscelli syndrome 3 (GS3) [MIM:609227] MLPH Q9BV36 VAR_038410 p.Thr289Ile LB/B rs11883500 - MLPH Q9BV36 VAR_061754 p.Pro451Ser LB/B rs58256353 - MLX Q9UH92 VAR_049547 p.Gln223Arg LB/B rs665268 - MLXIP Q9HAP2 VAR_059344 p.Glu396Gly LB/B rs7978353 - MLXIP Q9HAP2 VAR_059345 p.Val539Leu LB/B rs34702867 - MLXIPL Q9NP71 VAR_049556 p.Gln241His LB/B rs3812316 - MLXIPL Q9NP71 VAR_049557 p.Asp244Glu LB/B rs34922362 - MMAA Q8IVH4 VAR_017202 p.Tyr207Cys LP/P rs104893849 Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_020423 p.Gln363His LB/B rs2270655 - MMAA Q8IVH4 VAR_020835 p.Leu89Pro LP/P rs864309726 Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_020836 p.Arg145Gln LP/P rs200577967 Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_020837 p.Gly218Glu LP/P rs864309730 Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_020838 p.Arg359Gln LP/P rs864309731 Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_038804 p.Arg359Gly LP/P - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_071919 p.Arg209Ser LP/P - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_071920 p.Glu250Lys LP/P - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_071921 p.Gly274Asp LP/P - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_071922 p.Gly274Ser LP/P - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_071923 p.Lys276Glu LP/P - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_080009 p.Arg98Gly LP/P - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_080015 p.Gly147Glu LP/P - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_080016 p.Gly188Arg LP/P rs864309729 Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_080017 p.Gly192Asp LP/P rs1553958392 Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_080019 p.Arg196Gln US rs144389160 Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_080020 p.Val220Met LP/P rs150376474 Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_080021 p.Ile241Phe LP/P - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_080022 p.Thr243Asn LP/P rs1553958417 Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_080024 p.Asp258Asn LP/P - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_080025 p.Ala287Asp LP/P rs1553959024 Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_080026 p.Asp292Val LP/P rs1553959025 Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_080030 p.Gly399Val LP/P - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAB Q96EY8 VAR_017203 p.Arg19Gln LB/B rs36013132 - MMAB Q96EY8 VAR_017204 p.Ala135Thr LP/P rs35648932 Methylmalonic aciduria type cblB (MMAB) [MIM:251110] MMAB Q96EY8 VAR_017205 p.Arg186Trp LP/P rs28941784 Methylmalonic aciduria type cblB (MMAB) [MIM:251110] MMAB Q96EY8 VAR_017206 p.Arg191Trp LP/P rs376128990 Methylmalonic aciduria type cblB (MMAB) [MIM:251110] MMAB Q96EY8 VAR_017207 p.Glu193Lys LP/P rs749758687 Methylmalonic aciduria type cblB (MMAB) [MIM:251110] MMAB Q96EY8 VAR_017208 p.Met239Lys LB/B rs9593 - MMAB Q96EY8 VAR_023471 p.Ile96Thr LP/P rs864309509 Methylmalonic aciduria type cblB (MMAB) [MIM:251110] MMAB Q96EY8 VAR_038803 p.Arg19His LB/B rs10774775 - MMACHC Q9Y4U1 VAR_024770 p.Gln27Arg LP/P rs546099787 Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024771 p.Leu116Pro LP/P rs121918240 Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024772 p.His122Arg LP/P - Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024773 p.Tyr130His LP/P rs372670428 Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024774 p.Gly147Ala LP/P rs140522266 Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024775 p.Gly147Asp LP/P rs140522266 Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024776 p.Gly156Asp LP/P rs1553162910 Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024777 p.Trp157Cys LP/P rs1002571805 Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024778 p.Arg161Gly LP/P rs370596113 Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024779 p.Arg161Gln LP/P rs121918243 Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024780 p.Arg189Ser LP/P rs200895671 Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024781 p.Leu193Pro LP/P rs1233135084 Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024782 p.Arg206Pro LP/P rs371753672 Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024783 p.Arg206Trp LP/P rs538023671 Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_038805 p.Ser271Gly LB/B rs35219601 - MMADHC Q9H3L0 VAR_043844 p.Thr182Asn LP/P rs118204045 Methylmalonic aciduria and homocystinuria, cblD type (MAHCD) [MIM:277410] MMADHC Q9H3L0 VAR_043846 p.Tyr249Cys LP/P rs118204046 Methylmalonic aciduria and homocystinuria, cblD type (MAHCD) [MIM:277410] MMADHC Q9H3L0 VAR_043847 p.Leu259Pro LP/P rs118204044 Methylmalonic aciduria and homocystinuria, cblD type (MAHCD) [MIM:277410] MME P08473 VAR_077684 p.Asp12Ala US - Charcot-Marie-Tooth disease, axonal, 2T (CMT2T) [MIM:617017] MME P08473 VAR_077685 p.Cys143Tyr LP/P rs879255651 Spinocerebellar ataxia 43 (SCA43) [MIM:617018] MME P08473 VAR_077686 p.Tyr347Cys LP/P rs138218277 Charcot-Marie-Tooth disease, axonal, 2T (CMT2T) [MIM:617017] MME P08473 VAR_077687 p.Ala348Pro US rs199567914 Charcot-Marie-Tooth disease, axonal, 2T (CMT2T) [MIM:617017] MME P08473 VAR_077689 p.Ala422Asp LP/P rs777476150 Charcot-Marie-Tooth disease, axonal, 2T (CMT2T) [MIM:617017] MME P08473 VAR_077690 p.Tyr497His LB/B rs200308207 - MME P08473 VAR_077691 p.Cys621Arg LP/P rs879253752 Charcot-Marie-Tooth disease, axonal, 2T (CMT2T) [MIM:617017] MMEL1 Q495T6 VAR_027348 p.Met518Thr LB/B rs3748816 - MMP1 P03956 VAR_011969 p.Gln29Pro LB/B rs554499 - MMP1 P03956 VAR_011970 p.Asp252Gly LB/B rs513964 - MMP1 P03956 VAR_021024 p.Ile191Val LB/B rs17879973 - MMP1 P03956 VAR_021025 p.Arg405Gln LB/B rs17879165 - MMP1 P03956 VAR_021026 p.Ser406Thr LB/B rs17884120 - MMP1 P03956 VAR_054005 p.Arg262Ser LB/B rs12282811 - MMP10 P09238 VAR_020949 p.Leu4Val LB/B rs17435959 - MMP10 P09238 VAR_020950 p.Arg53Lys LB/B rs486055 - MMP10 P09238 VAR_020951 p.Gly65Arg LB/B rs17293607 - MMP10 P09238 VAR_020952 p.Phe226Leu LB/B rs17860971 - MMP10 P09238 VAR_020953 p.Gly282Glu LB/B rs17860973 - MMP10 P09238 VAR_020954 p.Leu440Phe LB/B rs17860996 - MMP10 P09238 VAR_020955 p.His475Leu LB/B rs17861009 - MMP10 P09238 VAR_036139 p.Glu142Gln US - A breast cancer sample MMP11 P24347 VAR_022181 p.Ala38Val LB/B rs738792 - MMP11 P24347 VAR_022182 p.Glu44Lys LB/B rs28363646 - MMP11 P24347 VAR_022183 p.Pro61Leu LB/B rs28363647 - MMP11 P24347 VAR_022184 p.Ser86Pro LB/B rs28363648 - MMP11 P24347 VAR_029659 p.Phe182Ser LB/B rs17854940 - MMP11 P24347 VAR_036140 p.Asp166Asn US - A colorectal cancer sample MMP12 P39900 VAR_021343 p.Asn357Ser LB/B rs652438 - MMP12 P39900 VAR_021344 p.Gly469Arg LB/B rs28381701 - MMP13 P45452 VAR_011971 p.His2Leu LB/B rs554797 - MMP13 P45452 VAR_020534 p.Asp390Gly LB/B rs17860568 - MMP13 P45452 VAR_032753 p.Phe75Ser LP/P rs121909497 Spondyloepimetaphyseal dysplasia, Missouri type (SEMDM) [MIM:602111] MMP13 P45452 VAR_063432 p.Phe74Ser LP/P rs121909498 Metaphyseal anadysplasia 1 (MANDP1) [MIM:602111] MMP13 P45452 VAR_063433 p.Met91Thr LP/P rs121909499 Metaphyseal anadysplasia 1 (MANDP1) [MIM:602111] MMP13 P45452 VAR_063434 p.His232Asn LP/P rs121909500 Metaphyseal anadysplasia 1 (MANDP1) [MIM:602111] MMP13 P45452 VAR_073418 p.Trp207Gly LP/P rs140059558 Metaphyseal dysplasia, Spahr type (MDST) [MIM:250400] MMP14 P50281 VAR_021029 p.Ala4Thr LB/B rs17882219 - MMP14 P50281 VAR_021030 p.Arg6Lys LB/B rs17884647 - MMP14 P50281 VAR_021031 p.Pro8Ser LB/B rs1042703 - MMP14 P50281 VAR_021032 p.Ile233Val LB/B rs17884841 - MMP14 P50281 VAR_021033 p.Asp273Asn LB/B rs1042704 - MMP14 P50281 VAR_021034 p.Arg302Trp LB/B rs17884719 - MMP14 P50281 VAR_021035 p.Met355Ile LB/B rs17880989 - MMP14 P50281 VAR_031267 p.Arg431His LB/B rs3751489 - MMP14 P50281 VAR_070567 p.Thr17Arg LP/P rs587777039 Winchester syndrome (WNCHRS) [MIM:277950] MMP15 P51511 VAR_020055 p.Gly609Arg LB/B rs3743563 - MMP15 P51511 VAR_030523 p.Leu200Pro LB/B rs41340745 - MMP15 P51511 VAR_030524 p.Pro350Leu LB/B rs41335851 - MMP15 P51511 VAR_030525 p.Asp596Gly LB/B rs41504346 - MMP15 P51511 VAR_030526 p.Arg622Trp LB/B rs41434246 - MMP19 Q99542 VAR_021036 p.Arg103Cys LB/B rs17844794 - MMP19 Q99542 VAR_021037 p.Pro488Thr LB/B rs17118042 - MMP19 Q99542 VAR_021038 p.Thr491Met LB/B rs17844806 - MMP19 Q99542 VAR_054006 p.Pro245Ser LB/B rs1056784 - MMP2 P08253 VAR_020616 p.Ala447Val LB/B rs17859943 - MMP2 P08253 VAR_020617 p.Val621Leu LB/B rs16955280 - MMP2 P08253 VAR_032423 p.Arg101His LP/P rs121912953 Multicentric osteolysis, nodulosis, and arthropathy (MONA) [MIM:259600] MMP2 P08253 VAR_032424 p.Asp210Tyr LB/B - - MMP2 P08253 VAR_032425 p.Glu404Lys LP/P rs121912955 Multicentric osteolysis, nodulosis, and arthropathy (MONA) [MIM:259600] MMP2 P08253 VAR_036136 p.Ala228Thr US rs759302357 A colorectal cancer sample MMP2 P08253 VAR_036137 p.Thr498Met US rs764961297 A colorectal cancer sample MMP2 P08253 VAR_036138 p.Ser644Ile US - A colorectal cancer sample MMP20 O60882 VAR_020511 p.Lys18Thr LB/B rs2245803 - MMP20 O60882 VAR_020512 p.Asp139Asn LB/B rs17099014 - MMP20 O60882 VAR_020513 p.Ile169Leu LB/B rs17099008 - MMP20 O60882 VAR_020514 p.Val275Ala LB/B rs1784423 - MMP20 O60882 VAR_057802 p.Thr281Asn LB/B rs1784424 - MMP21 Q8N119 VAR_019393 p.Val191Ala LB/B rs10901425 - MMP21 Q8N119 VAR_022291 p.Ala95Glu LB/B rs28381282 - MMP21 Q8N119 VAR_022292 p.Pro115Gln LB/B rs28381284 - MMP21 Q8N119 VAR_022293 p.Glu349Gly LB/B rs28381302 - MMP21 Q8N119 VAR_022294 p.Ala454Val LB/B rs28381319 - MMP21 Q8N119 VAR_032824 p.Asp263Glu LB/B rs34811493 - MMP21 Q8N119 VAR_057803 p.Ala311Thr LB/B rs17173746 - MMP21 Q8N119 VAR_057804 p.Arg360His LB/B rs17153524 - MMP21 Q8N119 VAR_076319 p.Arg31Trp LP/P rs746379956 Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749] MMP21 Q8N119 VAR_076320 p.Glu215Lys LP/P rs145789868 Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749] MMP21 Q8N119 VAR_076321 p.Ile226Thr LP/P rs781127723 Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749] MMP21 Q8N119 VAR_076322 p.His283Tyr LP/P rs1434829861 Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749] MMP21 Q8N119 VAR_076323 p.Ile285Thr LP/P rs747668147 Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749] MMP21 Q8N119 VAR_076324 p.Ala321Pro LP/P rs773125891 Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749] MMP21 Q8N119 VAR_076325 p.Arg360Cys LP/P rs946722250 Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749] MMP21 Q8N119 VAR_076326 p.Arg375His LP/P - Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749] MMP21 Q8N119 VAR_076327 p.Arg408Gly US rs150320323 Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749] MMP23B O75900 VAR_028948 p.Phe91Leu LB/B - - MMP24 Q9Y5R2 VAR_060166 p.Arg564His LB/B rs751887 - MMP26 Q9NRE1 VAR_033489 p.Lys43Glu LB/B rs2499953 - MMP26 Q9NRE1 VAR_033490 p.Ile260Met LB/B rs16908114 - MMP27 Q9H306 VAR_032326 p.Arg22Trp LB/B rs12099177 - MMP27 Q9H306 VAR_032327 p.Thr24Met LB/B rs1939015 - MMP27 Q9H306 VAR_032328 p.Met30Val LB/B rs2846707 - MMP27 Q9H306 VAR_032329 p.Glu266Val LB/B rs1276286 - MMP27 Q9H306 VAR_032330 p.Trp304Leu LB/B rs35616217 - MMP27 Q9H306 VAR_032331 p.Asp447Asn LB/B rs2509010 - MMP27 Q9H306 VAR_032332 p.Ile477Val LB/B rs35822551 - MMP3 P08254 VAR_013090 p.Lys45Glu LB/B rs679620 - MMP7 P09237 VAR_006729 p.Arg77His LB/B rs10502001 - MMP7 P09237 VAR_021027 p.Gly137Asp LB/B rs17884789 - MMP7 P09237 VAR_021028 p.Pro241Leu LB/B rs17886506 - MMP8 P22894 VAR_006730 p.Lys87Glu LB/B rs1940475 - MMP8 P22894 VAR_025036 p.Ser3Cys LB/B rs17099450 - MMP8 P22894 VAR_025037 p.Thr32Ile LB/B rs3765620 - MMP8 P22894 VAR_025038 p.Gly154Glu LB/B rs35056226 - MMP8 P22894 VAR_025039 p.Asp193Val LB/B rs34428739 - MMP8 P22894 VAR_025040 p.Asn246Tyr LB/B rs35243553 - MMP8 P22894 VAR_025041 p.Val436Ala LB/B rs34009635 - MMP8 P22894 VAR_025042 p.Lys460Thr LB/B rs35866072 - MMP9 P14780 VAR_013780 p.Ala20Val LB/B rs1805088 - MMP9 P14780 VAR_013781 p.Glu82Lys LB/B rs1805089 - MMP9 P14780 VAR_013782 p.Gln279Arg LB/B rs17576 - MMP9 P14780 VAR_014742 p.Arg668Gln LB/B rs17577 - MMP9 P14780 VAR_020054 p.Asn127Lys LB/B rs3918252 - MMP9 P14780 VAR_024595 p.Arg574Pro LB/B rs2250889 - MMP9 P14780 VAR_025165 p.Arg239His LB/B rs28763886 - MMP9 P14780 VAR_025166 p.Phe571Val LB/B rs35691798 - MMP9 P14780 VAR_037004 p.Asn38Ser LB/B rs41427445 - MMRN1 Q13201 VAR_031471 p.Thr58Ala LB/B rs1442138 - MMRN1 Q13201 VAR_031472 p.Thr805Ala LB/B rs3756065 - MMRN1 Q13201 VAR_031473 p.Gly883Asp LB/B rs12646270 - MMRN1 Q13201 VAR_031474 p.Thr964Arg LB/B rs17855885 - MMRN2 Q9H8L6 VAR_019801 p.Gly49Ser LB/B rs3750823 - MMRN2 Q9H8L6 VAR_019802 p.His731Asp LB/B rs4934281 - MMRN2 Q9H8L6 VAR_036362 p.Val448Met US rs748531029 A colorectal cancer sample MMRN2 Q9H8L6 VAR_053076 p.Ser831Arg LB/B rs36073867 - MMRN2 Q9H8L6 VAR_053077 p.Val910Leu LB/B rs34587013 - MMS19 Q96T76 VAR_023448 p.Ala68Gly LB/B rs2275586 - MMS19 Q96T76 VAR_023449 p.Arg98Trp LB/B rs29001280 - MMS19 Q96T76 VAR_023450 p.Val197Ile LB/B rs29001285 - MMS19 Q96T76 VAR_023451 p.Arg306His LB/B rs29001306 - MMS19 Q96T76 VAR_023452 p.Met365Val LB/B rs29001309 - MMS19 Q96T76 VAR_023453 p.Gln409Pro LB/B rs29001311 - MMS19 Q96T76 VAR_023454 p.Gln434Glu LB/B rs29001314 - MMS19 Q96T76 VAR_023455 p.Val526Ile LB/B rs17112809 - MMS19 Q96T76 VAR_023456 p.Ala558Val LB/B rs12360068 - MMS19 Q96T76 VAR_023457 p.Gly790Asp LB/B rs3740526 - MMS19 Q96T76 VAR_023458 p.Arg983His LB/B rs29001332 - MMS22L Q6ZRQ5 VAR_029013 p.Asn419Asp LB/B rs9374435 - MMS22L Q6ZRQ5 VAR_029014 p.Thr564Met LB/B rs9481410 - MMS22L Q6ZRQ5 VAR_029015 p.Val875Ala LB/B rs1737145 - MMS22L Q6ZRQ5 VAR_029016 p.Pro1015Leu LB/B rs10484830 - MMUT P22033 VAR_004409 p.Arg93His LP/P rs121918251 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004410 p.Trp105Arg LP/P rs121918249 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004411 p.Ala191Glu LP/P rs760782399 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004412 p.Arg228Gln LP/P rs770810987 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004413 p.Tyr231Asn LP/P rs864309736 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004414 p.Gly312Val LP/P rs864309734 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004416 p.Val368Asp LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004417 p.Arg369His LP/P rs564069299 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004418 p.Ala377Glu LP/P rs121918250 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004419 p.Arg532His LB/B rs1141321 - MMUT P22033 VAR_004420 p.Gly623Arg LP/P rs121918254 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004421 p.Gly626Cys LP/P rs982110849 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004422 p.Gly630Glu LP/P rs143023066 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004423 p.Val633Gly LP/P rs200055428 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004424 p.Gly648Asp LP/P rs766721811 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004425 p.Val669Glu LP/P rs1360470463 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004426 p.Ile671Val LB/B rs8589 - MMUT P22033 VAR_004427 p.His678Arg LP/P rs147094927 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004429 p.Leu685Arg LP/P rs864309739 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004430 p.Arg694Trp LP/P rs777758903 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004431 p.Gly703Arg LP/P rs121918255 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_004432 p.Gly717Val LP/P rs121918252 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022393 p.Gly94Val LP/P rs535411418 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022394 p.Arg108His LP/P rs483352778 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022395 p.Ala137Val LP/P rs941483851 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022396 p.Ser148Leu LP/P rs1300547552 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022397 p.Asp156Asn LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022398 p.Gly158Val LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022399 p.Phe174Ser LP/P rs864309733 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022400 p.Gly203Arg LP/P rs778702777 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022401 p.Gly215Ser LP/P rs121918258 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022402 p.Gln218His LP/P rs1446389693 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022403 p.Asn219Tyr LP/P rs121918256 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022404 p.Ser262Asn LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022405 p.Gln293Pro LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022406 p.Leu328Phe LP/P rs796052002 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022407 p.Ala499Thr LB/B rs2229385 - MMUT P22033 VAR_022408 p.Ala535Pro LP/P rs760183775 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022409 p.Tyr587Cys LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022410 p.Pro615Thr LP/P rs1302409621 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022411 p.Lys621Asn LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022412 p.Gln624Arg LP/P rs768521956 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022413 p.His627Arg LP/P rs372486357 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022414 p.Gly637Glu LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022415 p.Phe638Ile LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022416 p.Asp640Tyr LP/P rs865815395 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022417 p.Gly642Arg LP/P rs747897332 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_022418 p.Met700Lys LP/P rs140600746 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_023472 p.Ile69Val LP/P rs115923556 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_023473 p.Gln109Arg LP/P rs1461110052 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_023474 p.Ala324Thr LP/P rs780387525 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_023475 p.Leu328Pro LP/P rs965316043 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_023476 p.Arg616Cys LP/P rs765284825 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_023477 p.Leu617Arg LP/P rs1554158775 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026592 p.Pro86Leu LP/P rs769348060 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026593 p.Gly87Glu LP/P rs1554160986 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026594 p.Gly94Arg LP/P rs727504022 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026595 p.Pro95Arg LP/P rs190834116 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026596 p.Arg108Cys LP/P rs121918257 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026597 p.Arg108Gly LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026598 p.Gly145Ser LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026599 p.Met186Val LP/P rs148331800 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026600 p.Asn189Lys LP/P rs1561959114 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026601 p.Ala197Glu LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026602 p.Gly215Cys LP/P rs121918258 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026603 p.Thr230Ile LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026604 p.His265Tyr LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026605 p.Leu281Ser LP/P rs796052007 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026606 p.Gly291Glu LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026607 p.Leu305Ser LP/P rs1554160246 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026608 p.Ser306Phe LP/P rs1085307929 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026609 p.Tyr316Cys LP/P rs781474200 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026610 p.Leu347Arg LP/P rs1026703654 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026611 p.His350Tyr LP/P rs1407914109 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026612 p.Arg369Cys LP/P rs772552898 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026613 p.Thr370Pro LP/P rs368790885 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026614 p.Gln383His LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026615 p.Gln383Pro LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026616 p.His386Asn LP/P rs1554159937 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026617 p.Asn388His LP/P rs766010704 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026620 p.Gly426Arg LP/P rs769922244 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026621 p.Gly427Asp LP/P rs753288303 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026622 p.Leu518Pro LP/P rs864309738 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026623 p.Cys560Tyr LP/P rs1238333040 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026624 p.Thr566Arg LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026625 p.Phe573Ser LP/P rs775593146 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026626 p.Pro615Arg LP/P rs1554158777 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_026627 p.Gly637Arg LP/P rs781501004 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_030495 p.Thr598Ala LB/B rs9473556 - MMUT P22033 VAR_075379 p.Tyr100Cys LP/P rs864309735 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_075380 p.Tyr110Cys LP/P rs796052005 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_075381 p.Ala137Gly LP/P rs941483851 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_075382 p.His143Tyr LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_075383 p.Ser288Pro LP/P rs1179778233 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_075384 p.Ser344Phe LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_075385 p.Tyr364Ser LP/P rs563776413 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_075386 p.Asn366Ser LP/P rs864309737 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_075387 p.Thr387Ile LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_075388 p.Gly454Glu LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_075389 p.Gln514Glu US - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_075390 p.Pro615Leu LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_075391 p.Asp625Val LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_075392 p.Leu674Phe LP/P rs1164271240 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_075393 p.Leu692Pro LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_075394 p.Arg694Leu LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077210 p.Asn126Lys LP/P rs879253827 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077211 p.Gly133Arg LP/P rs879253828 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077212 p.Asp139Asn US rs879253829 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077213 p.Asp156Val LP/P rs757000253 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077214 p.Gly161Arg LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077215 p.Thr187Ser LP/P rs879253830 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077216 p.Asn189Ile LP/P rs200908035 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077218 p.Thr230Arg LP/P rs879253833 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077219 p.Glu276Asp US rs12175488 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077220 p.Gly284Glu LP/P rs879253835 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077221 p.Gly284Arg LP/P rs761477436 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077222 p.Gly325Asp LP/P rs879253837 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077223 p.Arg326Lys US rs758577372 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077224 p.Leu358Pro LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077225 p.His386Arg LP/P rs866933356 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077226 p.Asn388Lys LP/P rs879253840 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077227 p.Pro424Leu LP/P rs879253842 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077228 p.Gly426Glu LP/P rs533755473 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077229 p.Ala552Val US rs879253845 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077230 p.Leu618Pro LP/P rs879253846 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077231 p.Asp625Gly LP/P rs879253847 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_077232 p.Leu736Phe LP/P rs753461919 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_078342 p.Leu140Pro LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_078343 p.Ala141Thr LP/P rs1554160730 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_078344 p.Gly161Val LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_078345 p.Trp309Gly LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_078346 p.Ile505Thr LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_078347 p.Gln514Lys LP/P - Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_078348 p.Ile597Arg LP/P rs1554158951 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MMUT P22033 VAR_078349 p.Gly723Asp LP/P rs755077681 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] MN1 Q10571 VAR_047533 p.Gln382His LB/B rs45589338 - MNAT1 P51948 VAR_052084 p.Asp282Ala LB/B rs35188899 - MNDA P41218 VAR_012055 p.Val286Leu LB/B rs1056771 - MNDA P41218 VAR_020483 p.His357Tyr LB/B rs2276403 - MNDA P41218 VAR_034107 p.Ser156Arg LB/B rs35417083 - MNS1 Q8NEH6 VAR_034737 p.Cys10Tyr LB/B rs34807682 - MNS1 Q8NEH6 VAR_034738 p.Gln55Pro LB/B rs1715919 - MNS1 Q8NEH6 VAR_034739 p.Ile216Thr LB/B rs35775595 - MNS1 Q8NEH6 VAR_034740 p.Tyr244His LB/B rs17852882 - MNS1 Q8NEH6 VAR_034741 p.Glu426Gly LB/B rs17853357 - MNT Q99583 VAR_061258 p.Ala109Thr LB/B rs7207965 - MNX1 P50219 VAR_017874 p.Arg245Gly LP/P - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_017875 p.Arg245His LP/P - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_017876 p.Thr246Ser LP/P rs121912548 Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_017877 p.Trp288Gly LP/P - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_017878 p.Trp288Leu LP/P - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_017879 p.Gln290Pro LP/P - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_017880 p.Arg292Trp LP/P - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_017881 p.Arg293Gln LP/P - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_017882 p.Arg293Trp LP/P - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_068473 p.Arg243Trp LP/P - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_068474 p.Phe289Ser LP/P - Currarino syndrome (CURRAS) [MIM:176450] MOCOS Q96EN8 VAR_027528 p.Ala57Pro LP/P rs886037854 Xanthinuria 2 (XAN2) [MIM:603592] MOCOS Q96EN8 VAR_027529 p.Ser120Asn LB/B rs3744900 - MOCOS Q96EN8 VAR_027530 p.Thr170Ile LB/B rs623053 - MOCOS Q96EN8 VAR_027531 p.Ser184Gly LB/B rs540967 - MOCOS Q96EN8 VAR_027532 p.His225Arg LB/B rs623558 - MOCOS Q96EN8 VAR_027533 p.Thr294Ile LP/P rs577279030 Xanthinuria 2 (XAN2) [MIM:603592] MOCOS Q96EN8 VAR_027534 p.Val358Met LB/B rs678560 - MOCOS Q96EN8 VAR_027535 p.Asp495Asn LB/B rs8088347 - MOCOS Q96EN8 VAR_027536 p.Val541Leu LB/B rs672924 - MOCOS Q96EN8 VAR_027537 p.His703Asn LB/B rs594445 - MOCOS Q96EN8 VAR_027538 p.Val867Ala LB/B rs1057251 - MOCOS Q96EN8 VAR_045899 p.Arg776Cys LP/P rs750896617 Xanthinuria 2 (XAN2) [MIM:603592] MOCS1 Q9NZB8 VAR_015658 p.Arg73Trp LP/P rs104893970 Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150] MOCS1 Q9NZB8 VAR_015659 p.Gly126Asp LP/P rs372246702 Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150] MOCS1 Q9NZB8 VAR_015660 p.Gly127Asp LP/P - Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150] MOCS1 Q9NZB8 VAR_015661 p.Arg319Gln LP/P rs104893969 Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150] MOCS1 Q9NZB8 VAR_015662 p.Gly324Glu LP/P rs1187685038 Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150] MOCS1 Q9NZB8 VAR_054823 p.Arg67Trp LP/P rs754441164 Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150] MOCS1 Q9NZB8 VAR_054824 p.Cys80Gly LP/P rs151141411 Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150] MOCS1 Q9NZB8 VAR_054825 p.Cys84Phe LP/P - Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150] MOCS1 Q9NZB8 VAR_054826 p.Arg123Trp LP/P rs779592342 Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150] MOCS1 Q9NZB8 VAR_054827 p.Gly324Arg LP/P rs762253951 Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150] MOCS1 Q9NZB8 VAR_056131 p.Pro390His LB/B rs11969769 - MOCS1 Q9NZB8 VAR_061346 p.Arg452Leu LB/B rs11969206 - MOCS2 O96007 VAR_012765 p.Glu168Lys LP/P rs121908605 Molybdenum cofactor deficiency, complementation group B (MOCODB) [MIM:252160] MOCS2 O96007 VAR_050091 p.Thr50Ala LB/B rs2233213 - MOCS2 O96007 VAR_050092 p.Thr77Ala LB/B rs2233215 - MOCS2 O96007 VAR_050093 p.His123Tyr LB/B rs2233218 - MOCS2 O96007 VAR_050094 p.Asn187Ser LB/B rs2233221 - MOCS2 O96033 VAR_050090 p.Val51Ala LB/B rs2233210 - MOCS2 O96033 VAR_054854 p.Val7Phe LP/P rs121908608 Molybdenum cofactor deficiency, complementation group B (MOCODB) [MIM:252160] MOCS3 O95396 VAR_049349 p.Ser429Ala LB/B rs7269297 - MOG Q16653 VAR_056056 p.Val171Leu LB/B rs2857766 - MOG Q16653 VAR_060215 p.Ile174Val LB/B rs3130253 - MOG Q16653 VAR_066415 p.Ser133Cys LP/P rs387906655 Narcolepsy 7 (NRCLP7) [MIM:614250] MOGAT1 Q96PD6 VAR_027389 p.Ser163Pro LB/B rs1868024 - MOGAT1 Q96PD6 VAR_055695 p.Ala13Thr LB/B rs35959734 - MOGAT2 Q3SYC2 VAR_027390 p.Met9Val LB/B rs554202 - MOGAT2 Q3SYC2 VAR_027391 p.Cys313Tyr LB/B rs12281468 - MOGAT2 Q3SYC2 VAR_048857 p.Pro196His LB/B rs34582952 - MOGS Q13724 VAR_018966 p.Arg486Thr LP/P rs121909291 Type IIb congenital disorder of glycosylation (CDGIIb) [MIM:606056] MOGS Q13724 VAR_018967 p.Phe652Leu LP/P rs121909292 Type IIb congenital disorder of glycosylation (CDGIIb) [MIM:606056] MOGS Q13724 VAR_019361 p.Glu236Gln LB/B rs1063587 - MOGS Q13724 VAR_019362 p.Asp239Asn LB/B rs1063588 - MOGS Q13724 VAR_049233 p.Gly222Arg LB/B rs3213671 - MOGS Q13724 VAR_049234 p.Pro293Ser LB/B rs2268416 - MOGS Q13724 VAR_049235 p.Arg495Pro LB/B rs34075781 - MOGS Q13724 VAR_049236 p.Gly785Ser LB/B rs35533773 - MOK Q9UQ07 VAR_024576 p.Gln398Arg LB/B rs2236493 - MOK Q9UQ07 VAR_042011 p.Arg38His LB/B rs34114580 - MOK Q9UQ07 VAR_042012 p.Asp86Asn LB/B rs34084056 - MOK Q9UQ07 VAR_042013 p.Lys230Arg LB/B rs34965156 - MOK Q9UQ07 VAR_042014 p.Pro248Ser LB/B rs34299975 - MOK Q9UQ07 VAR_042015 p.Glu272Asp US rs1567133856 A breast pleomorphic lobular carcinoma sample MOK Q9UQ07 VAR_070930 p.Val217Ile LB/B rs148360666 - MON2 Q7Z3U7 VAR_034689 p.Ala548Thr LB/B rs10219555 - MORC1 Q86VD1 VAR_051188 p.Thr153Pro LB/B rs35282274 - MORC1 Q86VD1 VAR_051189 p.Lys322Met LB/B rs17225637 - MORC1 Q86VD1 VAR_051190 p.Phe470Ile LB/B rs4855576 - MORC1 Q86VD1 VAR_051191 p.Met478Val LB/B rs3762697 - MORC1 Q86VD1 VAR_051192 p.Met649Ile LB/B rs35421732 - MORC1 Q86VD1 VAR_051193 p.Ser767Asn LB/B rs2290057 - MORC1 Q86VD1 VAR_051194 p.His836Tyr LB/B rs2593943 - MORC1 Q86VD1 VAR_051195 p.Ser982Cys LB/B rs16855035 - MORC1 Q86VD1 VAR_051196 p.Ser982Trp LB/B rs16855035 - MORC1 Q86VD1 VAR_059698 p.Asp462Glu LB/B rs3762696 - MORC2 Q9Y6X9 VAR_076454 p.Ser87Leu LP/P rs864309504 Charcot-Marie-Tooth disease, axonal, 2Z (CMT2Z) [MIM:616688] MORC2 Q9Y6X9 VAR_076454 p.Ser87Leu LP/P rs864309504 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) [MIM:619090] MORC2 Q9Y6X9 VAR_076455 p.Gln96Glu US rs749060708 Charcot-Marie-Tooth disease, axonal, 2Z (CMT2Z) [MIM:616688] MORC2 Q9Y6X9 VAR_076456 p.Glu236Gly LP/P rs886037934 Charcot-Marie-Tooth disease, axonal, 2Z (CMT2Z) [MIM:616688] MORC2 Q9Y6X9 VAR_076457 p.Tyr248Cys LB/B rs1355363942 - MORC2 Q9Y6X9 VAR_076458 p.Arg252Trp LP/P rs864309503 Charcot-Marie-Tooth disease, axonal, 2Z (CMT2Z) [MIM:616688] MORC2 Q9Y6X9 VAR_076459 p.Arg283His LB/B rs1482880426 - MORC2 Q9Y6X9 VAR_076460 p.Gly444Arg US - Charcot-Marie-Tooth disease, axonal, 2Z (CMT2Z) [MIM:616688] MORC2 Q9Y6X9 VAR_076461 p.Asp466His LB/B - - MORC2 Q9Y6X9 VAR_076462 p.Arg585Cys LB/B rs548292999 - MORC2 Q9Y6X9 VAR_076463 p.Glu757Gly LB/B rs774444542 - MORC2 Q9Y6X9 VAR_081260 p.Thr424Arg US - - MORC2 Q9Y6X9 VAR_085367 p.Thr24Ile LP/P rs1602510214 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) [MIM:619090] MORC2 Q9Y6X9 VAR_085368 p.Glu27Lys LP/P rs1602510200 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) [MIM:619090] MORC2 Q9Y6X9 VAR_085369 p.Ala88Val LP/P rs1602499659 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) [MIM:619090] MORC2 Q9Y6X9 VAR_085370 p.Arg132Cys LP/P rs1064795559 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) [MIM:619090] MORC2 Q9Y6X9 VAR_085371 p.Glu163Asp LB/B rs186458188 - MORC2 Q9Y6X9 VAR_085372 p.Asn209Ser LB/B rs76273991 - MORC2 Q9Y6X9 VAR_085373 p.Thr228Met LB/B rs774960940 - MORC2 Q9Y6X9 VAR_085374 p.Arg266Ser LP/P rs1064796495 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) [MIM:619090] MORC2 Q9Y6X9 VAR_085375 p.Ser388Arg LP/P rs1602485958 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) [MIM:619090] MORC2 Q9Y6X9 VAR_085376 p.Tyr394Cys LP/P rs1555938796 Charcot-Marie-Tooth disease, axonal, 2Z (CMT2Z) [MIM:616688] MORC2 Q9Y6X9 VAR_085376 p.Tyr394Cys LP/P rs1555938796 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) [MIM:619090] MORC2 Q9Y6X9 VAR_085377 p.Gln400Arg LP/P - Charcot-Marie-Tooth disease, axonal, 2Z (CMT2Z) [MIM:616688] MORC2 Q9Y6X9 VAR_085378 p.Cys407Tyr LP/P rs1555938741 Charcot-Marie-Tooth disease, axonal, 2Z (CMT2Z) [MIM:616688] MORC2 Q9Y6X9 VAR_085379 p.Val413Phe LP/P rs1602485677 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) [MIM:619090] MORC2 Q9Y6X9 VAR_085380 p.Ala431Val LP/P rs2040679845 Charcot-Marie-Tooth disease, axonal, 2Z (CMT2Z) [MIM:616688] MORC2 Q9Y6X9 VAR_085381 p.Asp466Asn US - Charcot-Marie-Tooth disease, axonal, 2Z (CMT2Z) [MIM:616688] MORC2 Q9Y6X9 VAR_085382 p.His798Arg US rs1236354994 Charcot-Marie-Tooth disease, axonal, 2Z (CMT2Z) [MIM:616688] MORC2 Q9Y6X9 VAR_085383 p.Glu906Lys LB/B rs759328437 - MORC4 Q8TE76 VAR_051197 p.Thr473Ile LB/B rs6622126 - MORC4 Q8TE76 VAR_051198 p.Arg653Cys LB/B rs3827464 - MORN1 Q5T089 VAR_027105 p.His330Tyr LB/B rs17851912 - MORN1 Q5T089 VAR_051199 p.Leu124Val LB/B rs12130128 - MORN2 Q502X0 VAR_027106 p.Glu48Lys LB/B rs3099950 - MOS P00540 VAR_040813 p.Arg96Leu LB/B rs34532635 - MOS P00540 VAR_040814 p.Ala105Ser LB/B rs35392772 - MOS P00540 VAR_040815 p.Ala123Thr US - A lung adenocarcinoma sample MOS P00540 VAR_040816 p.Ser300Pro LB/B rs56300224 - MOS P00540 VAR_088642 p.Asn95Lys LP/P - Oocyte/zygote/embryo maturation arrest 20 (OZEMA20) [MIM:620383] MOS P00540 VAR_088643 p.Met139Thr US - Oocyte/zygote/embryo maturation arrest 20 (OZEMA20) [MIM:620383] MOS P00540 VAR_088644 p.Ile197Met US - Oocyte/zygote/embryo maturation arrest 20 (OZEMA20) [MIM:620383] MOS P00540 VAR_088645 p.His199Leu LP/P - Oocyte/zygote/embryo maturation arrest 20 (OZEMA20) [MIM:620383] MOS P00540 VAR_088646 p.Arg246His US - Oocyte/zygote/embryo maturation arrest 20 (OZEMA20) [MIM:620383] MOS P00540 VAR_088647 p.Ser264Cys LP/P - Oocyte/zygote/embryo maturation arrest 20 (OZEMA20) [MIM:620383] MOS P00540 VAR_088648 p.Ala292Val LP/P - Oocyte/zygote/embryo maturation arrest 20 (OZEMA20) [MIM:620383] MOS P00540 VAR_088649 p.Arg319His LP/P - Oocyte/zygote/embryo maturation arrest 20 (OZEMA20) [MIM:620383] MOSPD1 Q9UJG1 VAR_036601 p.Val63Ile US - A breast cancer sample MOSPD2 Q8NHP6 VAR_034109 p.Ser240Asn LB/B rs35164803 - MOV10L1 Q9BXT6 VAR_013694 p.Ile454Leu LB/B rs760749 - MOV10L1 Q9BXT6 VAR_013695 p.Val650Ile LB/B rs2340601 - MOV10L1 Q9BXT6 VAR_013696 p.Gln820Arg LB/B rs2272837 - MOV10L1 Q9BXT6 VAR_013697 p.Ala1179Glu LB/B rs2272843 - MOV10L1 Q9BXT6 VAR_020148 p.Arg182Cys LB/B rs3810971 - MOV10L1 Q9BXT6 VAR_034100 p.Met57Leu LB/B rs9617066 - MOV10L1 Q9BXT6 VAR_034101 p.Ser683Gly LB/B rs3736689 - MOV10L1 Q9BXT6 VAR_059457 p.Thr18Ser LB/B rs12628964 - MOV10L1 Q9BXT6 VAR_087327 p.Ser816Ile LP/P - Spermatogenic failure 73 (SPGF73) [MIM:619878] MOV10L1 Q9BXT6 VAR_087328 p.Gly848Arg US - Spermatogenic failure 73 (SPGF73) [MIM:619878] MOXD1 Q6UVY6 VAR_035185 p.Glu488Gln LB/B rs36075540 - MOXD1 Q6UVY6 VAR_035186 p.Lys539Glu LB/B rs17851680 - MPC1 Q9Y5U8 VAR_052486 p.Leu36Ile LB/B rs11557064 - MPC1 Q9Y5U8 VAR_068099 p.Leu79His LP/P rs387907238 Mitochondrial pyruvate carrier deficiency (MPYCD) [MIM:614741] MPC1 Q9Y5U8 VAR_068100 p.Arg97Trp LP/P rs387907237 Mitochondrial pyruvate carrier deficiency (MPYCD) [MIM:614741] MPDU1 O75352 VAR_021388 p.Gly73Glu LP/P rs104894586 Congenital disorder of glycosylation 1F (CDG1F) [MIM:609180] MPDU1 O75352 VAR_021389 p.Leu74Ser LP/P rs104894589 Congenital disorder of glycosylation 1F (CDG1F) [MIM:609180] MPDU1 O75352 VAR_021390 p.Leu119Pro LP/P rs104894587 Congenital disorder of glycosylation 1F (CDG1F) [MIM:609180] MPDU1 O75352 VAR_047757 p.Gly225Ser LB/B rs16956808 - MPDU1 O75352 VAR_047758 p.Ala229Thr LB/B rs10852891 - MPDZ O75970 VAR_056115 p.Ser92Leu LB/B rs17273542 - MPDZ O75970 VAR_056116 p.Leu351Phe LB/B rs3739757 - MPDZ O75970 VAR_056117 p.Glu702Lys LB/B rs4741289 - MPDZ O75970 VAR_056118 p.Glu702Val LB/B rs4740548 - MPDZ O75970 VAR_056119 p.Thr1604Ala LB/B rs16930134 - MPDZ O75970 VAR_056120 p.Gly1663Arg LB/B rs2274648 - MPDZ O75970 VAR_081125 p.Ala1760Thr US rs1554644827 Hydrocephalus, congenital, 2, with or without brain or eye anomalies (HYC2) [MIM:615219] MPEG1 Q2M385 VAR_051200 p.Ala467Thr LB/B rs544864 - MPEG1 Q2M385 VAR_051201 p.Pro552Leu LB/B rs7926933 - MPEG1 Q2M385 VAR_051202 p.Gln694Arg LB/B rs17153442 - MPEG1 Q2M385 VAR_085655 p.Thr73Ala US rs143527301 Immunodeficiency 77 (IMD77) [MIM:619223] MPEG1 Q2M385 VAR_085656 p.Pro316Ser LB/B rs11229878 - MPEG1 Q2M385 VAR_085658 p.Pro405Thr US rs200420254 Immunodeficiency 77 (IMD77) [MIM:619223] MPG P29372 VAR_014831 p.Pro64Leu LB/B rs2308315 - MPG P29372 VAR_014832 p.Tyr71His LB/B rs2266607 - MPG P29372 VAR_014833 p.Arg120Cys LB/B rs2308313 - MPG P29372 VAR_014834 p.Arg141Gln LB/B rs2308312 - MPG P29372 VAR_014835 p.Ala258Val LB/B rs769193 - MPG P29372 VAR_014836 p.Ala298Ser LB/B rs2234949 - MPG P29372 VAR_019138 p.Lys22Gln LB/B rs3176383 - MPG P29372 VAR_050096 p.Gln93Arg LB/B rs25671 - MPHOSPH10 O00566 VAR_014470 p.Glu634Lys LB/B rs6574 - MPHOSPH10 O00566 VAR_022000 p.Leu425Met LB/B rs3732240 - MPHOSPH10 O00566 VAR_024539 p.Glu229Asp LB/B rs1813160 - MPHOSPH10 O00566 VAR_053511 p.Glu69Ala LB/B rs10199088 - MPHOSPH10 O00566 VAR_053512 p.Arg115His LB/B rs13010513 - MPHOSPH10 O00566 VAR_053513 p.Asp140Asn LB/B rs10175940 - MPHOSPH10 O00566 VAR_053514 p.Ala639Thr LB/B rs4852764 - MPHOSPH6 Q99547 VAR_056150 p.Ile58Val LB/B rs2303267 - MPHOSPH9 Q99550 VAR_047643 p.Gly277Ser LB/B rs36121382 - MPHOSPH9 Q99550 VAR_047644 p.Ala1078Asp LB/B rs1260318 - MPI P34949 VAR_012338 p.Ser102Leu LP/P rs104894494 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] MPI P34949 VAR_012339 p.Met138Thr LP/P rs104894495 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] MPI P34949 VAR_012340 p.Arg219Gln LP/P rs104894489 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] MPI P34949 VAR_012345 p.Ile140Thr LP/P rs773678732 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022516 p.Met51Thr LP/P rs764835081 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022517 p.Tyr129Cys LP/P rs887249336 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022518 p.Asp131Asn LP/P rs566620411 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022519 p.Arg152Gln LP/P rs766458792 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022520 p.Gly250Ser LP/P rs748090636 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022521 p.Tyr255Cys LP/P - Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022522 p.Arg295His LP/P rs28928906 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022523 p.Ile398Thr LP/P rs369326210 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022524 p.Arg418His LP/P rs863225087 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] MPIG6B O95866 VAR_051004 p.Arg175Gly LB/B rs11575845 - MPL P40238 VAR_011988 p.Ala58Val LB/B rs6087 - MPL P40238 VAR_011989 p.Glu168Lys LB/B rs6088 - MPL P40238 VAR_049173 p.Lys39Asn LB/B rs17292650 - MPL P40238 VAR_049174 p.Val114Met LB/B rs12731981 - MPL P40238 VAR_067559 p.Ser505Asn LP/P rs121913614 Thrombocythemia 2 (THCYT2) [MIM:601977] MPL P40238 VAR_067560 p.Trp515Lys LP/P rs121913616 Myelofibrosis with myeloid metaplasia (MMM) [MIM:254450] MPL P40238 VAR_067561 p.Trp515Leu LP/P rs121913615 Myelofibrosis with myeloid metaplasia (MMM) [MIM:254450] MPL P40238 VAR_067561 p.Trp515Leu LP/P rs121913615 Thrombocythemia 2 (THCYT2) [MIM:601977] MPL P40238 VAR_073030 p.Arg102Cys LP/P rs763568293 Amegakaryocytic thrombocytopenia, congenital, 1 (CAMT1) [MIM:604498] MPL P40238 VAR_073031 p.Arg102Pro LP/P rs28928907 Amegakaryocytic thrombocytopenia, congenital, 1 (CAMT1) [MIM:604498] MPL P40238 VAR_073032 p.Phe104Ser LP/P rs1196161699 Amegakaryocytic thrombocytopenia, congenital, 1 (CAMT1) [MIM:604498] MPL P40238 VAR_073033 p.Pro106Leu LP/P rs750046020 Thrombocythemia 2 (THCYT2) [MIM:601977] MPL P40238 VAR_073034 p.Pro136Leu LP/P rs764904424 Amegakaryocytic thrombocytopenia, congenital, 1 (CAMT1) [MIM:604498] MPL P40238 VAR_073035 p.Trp154Arg LP/P rs758428763 Amegakaryocytic thrombocytopenia, congenital, 1 (CAMT1) [MIM:604498] MPL P40238 VAR_073036 p.Arg257Leu LP/P - Amegakaryocytic thrombocytopenia, congenital, 1 (CAMT1) [MIM:604498] MPL P40238 VAR_073037 p.Pro275Thr LP/P rs28928908 Amegakaryocytic thrombocytopenia, congenital, 1 (CAMT1) [MIM:604498] MPL P40238 VAR_073038 p.Trp435Cys LP/P rs1006158872 Amegakaryocytic thrombocytopenia, congenital, 1 (CAMT1) [MIM:604498] MPL P40238 VAR_073039 p.Leu594Trp LP/P rs1448812001 Amegakaryocytic thrombocytopenia, congenital, 1 (CAMT1) [MIM:604498] MPLKIP Q8TAP9 VAR_022940 p.Met144Val LP/P rs137853117 Trichothiodystrophy 4, non-photosensitive (TTD4) [MIM:234050] MPLKIP Q8TAP9 VAR_036273 p.Gly29Glu US rs565833937 A breast cancer sample MPO P05164 VAR_012066 p.Ile717Val LB/B rs2759 - MPO P05164 VAR_015377 p.Tyr173Cys LP/P rs78950939 Myeloperoxidase deficiency (MPOD) [MIM:254600] MPO P05164 VAR_015378 p.Met251Thr LP/P rs56378716 Myeloperoxidase deficiency (MPOD) [MIM:254600] MPO P05164 VAR_015379 p.Arg569Trp LP/P rs119468010 Myeloperoxidase deficiency (MPOD) [MIM:254600] MPO P05164 VAR_023995 p.Val53Phe LB/B rs7208693 - MPO P05164 VAR_023996 p.Arg604Cys LB/B rs35670089 - MPO P05164 VAR_023997 p.Glu683Gln LB/B rs35702888 - MPO P05164 VAR_036517 p.Arg447Gln US rs762688992 A colorectal cancer sample MPP1 Q00013 VAR_011914 p.Glu448Gln LB/B rs14092 - MPP3 Q13368 VAR_050014 p.Arg585Gly LB/B rs17742683 - MPP4 Q96JB8 VAR_022643 p.Gly44Ser LB/B rs6725443 - MPP4 Q96JB8 VAR_050015 p.Val562Ile LB/B rs11894115 - MPP7 Q5T2T1 VAR_039110 p.Lys322Arg LB/B rs2997211 - MPPE1 Q53F39 VAR_038294 p.Arg138Gln LB/B rs11872520 - MPPE1 Q53F39 VAR_038295 p.Val197Met LB/B rs35611363 - MPPE1 Q53F39 VAR_038296 p.Ala268Pro LB/B rs662515 - MPPE1 Q53F39 VAR_038297 p.Met336Leu LB/B rs16976814 - MPPED2 Q15777 VAR_052487 p.His67Arg LB/B rs11556749 - MPRIP Q6WCQ1 VAR_051203 p.Pro327Gln LB/B rs3744137 - MPV17 P39210 VAR_026217 p.Arg50Gln LP/P rs121909721 Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_026218 p.Arg50Trp LP/P rs121909723 Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_026219 p.Asn166Lys LP/P rs121909722 Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_076199 p.Lys88Glu LP/P rs267607256 Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_076202 p.Gly94Arg LP/P rs267607257 Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_076203 p.Pro98Leu LP/P rs267607258 Charcot-Marie-Tooth disease, axonal, 2EE (CMT2EE) [MIM:618400] MPV17 P39210 VAR_076203 p.Pro98Leu LP/P rs267607258 Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_076204 p.Ala162Asp LP/P rs267607259 Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_082226 p.Leu21Arg US rs976220715 Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_082227 p.Ala23Pro LP/P - Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_082228 p.Gly24Trp US rs121909725 Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_082229 p.Gln36Pro US rs762327729 Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_082230 p.Arg41Gln LP/P rs140992482 Charcot-Marie-Tooth disease, axonal, 2EE (CMT2EE) [MIM:618400] MPV17 P39210 VAR_082231 p.Arg41Trp LP/P rs863224072 Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_082233 p.Pro64Arg LP/P rs375401970 Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_082234 p.Val66Glu US - Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_082237 p.Asp92Gly LP/P - Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_082238 p.Gln93Pro LP/P - Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_082239 p.Gly95Asp US rs1260392202 Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_082243 p.Arg154Met LP/P rs886044113 Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_082244 p.Ser170Phe LP/P rs267607260 Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] MPV17L2 Q567V2 VAR_058299 p.Met72Val LB/B rs874628 - MPZ P25189 VAR_004500 p.Ile30Met LP/P rs770546306 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004501 p.Val32Phe LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004502 p.Thr34Ile LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004503 p.Ser44Phe LP/P rs121913598 Charcot-Marie-Tooth disease, axonal, 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_004503 p.Ser44Phe LP/P rs121913598 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004504 p.Ser54Cys LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004505 p.Ser54Pro LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004506 p.Val58Phe LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004508 p.Ser63Cys LP/P rs121913585 Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004509 p.Ser63Phe LP/P rs121913585 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004511 p.Tyr68Cys LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004512 p.Ser78Leu LP/P rs121913601 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004513 p.His81Arg LP/P rs121913594 Charcot-Marie-Tooth disease, axonal, 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_004513 p.His81Arg LP/P rs121913594 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004514 p.Tyr82Cys LP/P rs1553259707 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004514 p.Tyr82Cys LP/P rs1553259707 Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004515 p.Asp90Glu LP/P rs121913584 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004516 p.Gly93Glu LP/P rs1060503418 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004517 p.Lys96Glu LP/P rs121913583 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004518 p.Arg98Cys LP/P rs121913590 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004518 p.Arg98Cys LP/P rs121913590 Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004519 p.Arg98His LP/P rs121913589 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004520 p.Arg98Pro LP/P rs121913589 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004521 p.Arg98Ser LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004522 p.Ile99Thr LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004523 p.Trp101Cys LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004524 p.Ile112Thr LP/P rs1553259662 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004525 p.Ile114Thr LP/P rs267607241 Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004526 p.Asn116His LP/P rs267607242 Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004528 p.Asn122Ser LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004529 p.Thr124Met LP/P rs121913595 Charcot-Marie-Tooth disease, axonal, 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_004529 p.Thr124Met LP/P rs121913595 Charcot-Marie-Tooth disease, axonal, 2J (CMT2J) [MIM:607736] MPZ P25189 VAR_004529 p.Thr124Met LP/P rs121913595 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004531 p.Cys127Tyr LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004532 p.Asp128Glu LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004533 p.Asp128Asn LP/P rs267607243 Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004534 p.Lys130Arg LP/P rs281865127 Charcot-Marie-Tooth disease, axonal, 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_004534 p.Lys130Arg LP/P rs281865127 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004534 p.Lys130Arg LP/P rs281865127 Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004535 p.Pro132Leu LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004536 p.Asp134Glu LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004537 p.Asp134Asn LP/P rs1553259647 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004538 p.Ile135Leu LP/P rs879253858 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004538 p.Ile135Leu LP/P rs879253858 Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004539 p.Ile135Thr LP/P rs121913587 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004540 p.Gly137Ser LP/P rs121913588 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004541 p.Thr143Met LP/P rs750724650 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004542 p.Gly163Arg LP/P rs281865128 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004543 p.Gly167Ala LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004543 p.Gly167Ala LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004544 p.Gly167Arg LP/P rs121913586 Charcot-Marie-Tooth disease, axonal, 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_004544 p.Gly167Arg LP/P rs121913586 Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004545 p.Arg244Leu LB/B rs749722729 - MPZ P25189 VAR_015971 p.Asp35Tyr LP/P rs121913596 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_015971 p.Asp35Tyr LP/P rs121913596 Charcot-Marie-Tooth disease, dominant intermediate D (CMTDID) [MIM:607791] MPZ P25189 VAR_015972 p.Ile62Phe LP/P rs121913602 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_015973 p.Asp75Val LP/P rs121913597 Charcot-Marie-Tooth disease, axonal, 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_015973 p.Asp75Val LP/P rs121913597 Charcot-Marie-Tooth disease, axonal, 2J (CMT2J) [MIM:607736] MPZ P25189 VAR_015974 p.Ile89Asn LP/P rs267607244 Charcot-Marie-Tooth disease, axonal, 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_015975 p.Val92Met LP/P rs267607245 Charcot-Marie-Tooth disease, axonal, 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_015976 p.Gly103Glu LP/P rs121913600 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_015977 p.Gly123Cys LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_015977 p.Gly123Cys LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_015978 p.Asn131Lys LP/P rs121913599 Roussy-Levy syndrome (ROULS) [MIM:180800] MPZ P25189 VAR_015979 p.Val136Glu LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_015980 p.Ile162Met LP/P rs267607246 Charcot-Marie-Tooth disease, axonal, 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_021609 p.Asp118Asn LP/P - Charcot-Marie-Tooth disease, axonal, 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_021610 p.Lys236Glu LP/P - Charcot-Marie-Tooth disease, axonal, 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_029971 p.Ser51Phe LP/P rs1553259790 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_029972 p.Asp60His LP/P rs121913604 Charcot-Marie-Tooth disease, axonal, 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_029973 p.Ile62Met LP/P rs121913605 Charcot-Marie-Tooth disease, axonal, 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_029974 p.Thr65Ile LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_029975 p.Glu97Val LP/P rs121913606 Charcot-Marie-Tooth disease, axonal, 2J (CMT2J) [MIM:607736] MPZ P25189 VAR_029976 p.Gly110Asp LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_029977 p.Val113Ile US - - MPZ P25189 VAR_029978 p.Thr124Lys LP/P rs121913595 Neuropathy, congenital hypomyelinating, 2 (CHN2) [MIM:618184] MPZ P25189 VAR_029979 p.Asp134Gly LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_029980 p.Lys138Asn LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_029981 p.Thr139Asn LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_029982 p.Ser140Thr LP/P rs572010627 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_029983 p.Tyr145Ser LP/P rs121913603 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_029984 p.Val146Phe LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_029985 p.Leu170Arg LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_031885 p.Asp61Gly LP/P rs786204119 Charcot-Marie-Tooth disease, axonal, 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_031886 p.Thr65Ala LP/P rs1553259760 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_031887 p.Ser78Trp LP/P rs121913601 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_031888 p.His81Tyr LP/P rs281865123 Charcot-Marie-Tooth disease, dominant intermediate D (CMTDID) [MIM:607791] MPZ P25189 VAR_031889 p.Asp109Asn LP/P rs1060503420 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_031890 p.Val113Phe LP/P rs281865126 Charcot-Marie-Tooth disease, dominant intermediate D (CMTDID) [MIM:607791] MPZ P25189 VAR_031891 p.Tyr119Cys LP/P rs879254038 Charcot-Marie-Tooth disease, axonal, 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_031892 p.Ala221Thr LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_054393 p.His39Pro LP/P rs371856018 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_054396 p.Glu56Lys US - - MPZ P25189 VAR_054397 p.Asp224Tyr LP/P rs267607247 Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_054398 p.Arg227Ser LP/P - Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) [MIM:118200] MPZL2 O60487 VAR_081572 p.Arg90Trp US rs187493775 Deafness, autosomal recessive, 111 (DFNB111) [MIM:618145] MPZL2 O60487 VAR_088675 p.Leu18Phe US - Deafness, autosomal recessive, 111 (DFNB111) [MIM:618145] MPZL3 Q6UWV2 VAR_031108 p.Met155Val LB/B rs17121966 - MPZL3 Q6UWV2 VAR_031109 p.Asp228Val LB/B rs7105729 - MPZL3 Q6UWV2 VAR_050455 p.Val168Gly LB/B rs36102742 - MPZL3 Q6UWV2 VAR_050456 p.Val172Met LB/B rs34507994 - MR1 Q95460 VAR_045608 p.His39Arg LB/B rs2236410 - MR1 Q95460 VAR_045609 p.Arg63Gln LB/B rs3897433 - MR1 Q95460 VAR_045610 p.Ala77Val LB/B rs3897434 - MRAP2 Q96G30 VAR_069986 p.Asn88Tyr US rs761868293 - MRAP2 Q96G30 VAR_069987 p.Leu115Val US rs368589399 - MRAP2 Q96G30 VAR_069988 p.Arg125Cys US rs148904867 - MRAS O14807 VAR_083112 p.Gly23Val LP/P - Noonan syndrome 11 (NS11) [MIM:618499] MRAS O14807 VAR_083113 p.Thr68Ile LP/P - Noonan syndrome 11 (NS11) [MIM:618499] MRAS O14807 VAR_083114 p.Gln71Arg LP/P - Noonan syndrome 11 (NS11) [MIM:618499] MRC1 P22897 VAR_019700 p.Thr167Ile LB/B rs2296414 - MRC1 P22897 VAR_065250 p.Gly396Ser LB/B rs606231248 - MRC1 P22897 VAR_065251 p.Thr399Ala LB/B rs71497223 - MRC1 P22897 VAR_065252 p.Leu407Phe LB/B rs71497225 - MRC2 Q9UBG0 VAR_025304 p.Val43Ile LB/B rs2014055 - MRC2 Q9UBG0 VAR_025305 p.Arg1156His LB/B rs2429387 - MRE11 P49959 VAR_008513 p.Asn117Ser LP/P rs137852760 Ataxia-telangiectasia-like disorder 1 (ATLD1) [MIM:604391] MRE11 P49959 VAR_011625 p.Ser104Cys US rs748434421 Cancer MRE11 P49959 VAR_011626 p.Met157Val LB/B rs147771140 - MRE11 P49959 VAR_011627 p.Arg503His US rs774057024 Cancer MRE11 P49959 VAR_011628 p.Arg572Gln US rs200085146 Cancer MRE11 P49959 VAR_019288 p.Asp468Gly LB/B rs1805367 - MRE11 P49959 VAR_019289 p.Met698Val LB/B rs1805362 - MRE11 P49959 VAR_025528 p.Arg305Trp US rs372000848 Ovarian cancer MRE11 P49959 VAR_036416 p.Phe237Cys US - A breast cancer sample MRE11 P49959 VAR_036417 p.His302Tyr US - A breast cancer sample MREG Q8N565 VAR_053923 p.Gly15Arg LB/B rs1864253 - MRGPRE Q86SM8 VAR_059325 p.Gly16Ser LB/B rs12295710 - MRGPRE Q86SM8 VAR_059326 p.Gly160Ser LB/B rs4391795 - MRGPRF Q96AM1 VAR_061220 p.Lys16Arg LB/B rs11544721 - MRGPRG-AS1 Q2M3A8 VAR_027707 p.Glu6Ala LB/B rs11026002 - MRGPRG-AS1 Q2M3A8 VAR_027708 p.Ser135Phe LB/B rs11026004 - MRGPRG-AS1 Q2M3A8 VAR_027709 p.Gly142Val LB/B rs12280457 - MRGPRX1 Q96LB2 VAR_019432 p.Ile36Val LB/B rs11024885 - MRGPRX1 Q96LB2 VAR_075462 p.Ala46Thr LB/B rs78179510 - MRGPRX1 Q96LB2 VAR_075463 p.Arg55Leu LB/B rs55954376 - MRGPRX1 Q96LB2 VAR_075464 p.Arg131Ser LB/B rs111448117 - MRGPRX1 Q96LB2 VAR_075465 p.His133Arg LB/B rs140351170 - MRGPRX1 Q96LB2 VAR_075466 p.His137Arg LB/B rs143702818 - MRGPRX1 Q96LB2 VAR_075467 p.Phe273Leu LB/B rs137866403 - MRGPRX2 Q96LB1 VAR_019433 p.Asn62Ser LB/B rs10833049 - MRGPRX2 Q96LB1 VAR_024739 p.Asn16His LB/B rs11024970 - MRGPRX2 Q96LB1 VAR_024740 p.Phe78Leu LB/B rs79763999 - MRGPRX2 Q96LB1 VAR_049418 p.Val43Ile LB/B rs11823569 - MRGPRX3 Q96LB0 VAR_019434 p.Asn169Asp LB/B rs4274188 - MRGPRX3 Q96LB0 VAR_025507 p.Cys82Arg LB/B rs12291017 - MRGPRX4 Q96LA9 VAR_019435 p.Phe8Leu LB/B rs2468774 - MRGPRX4 Q96LA9 VAR_019436 p.Asn25Lys LB/B rs2445180 - MRGPRX4 Q96LA9 VAR_019437 p.Tyr54Cys LB/B rs1869788 - MRGPRX4 Q96LA9 VAR_019438 p.Leu83Ser LB/B rs2445179 - MRGPRX4 Q96LA9 VAR_025506 p.Ala182Val LB/B rs11024532 - MRGPRX4 Q96LA9 VAR_049419 p.Asn245Ser LB/B rs7102322 - MRI1 Q9BV20 VAR_059253 p.Met235Val LB/B rs35098252 - MRI1 Q9BV20 VAR_059254 p.Gly319Ala LB/B rs10402855 - MRM1 Q6IN84 VAR_061906 p.Pro98Ser LB/B rs60978234 - MRM2 Q9UI43 VAR_083280 p.Gly189Arg LP/P - Mitochondrial DNA depletion syndrome 17 (MTDPS17) [MIM:618567] MRM3 Q9HC36 VAR_037217 p.Ala8Ser LB/B rs2273454 - MRM3 Q9HC36 VAR_037218 p.Gly45Glu LB/B rs2249542 - MRM3 Q9HC36 VAR_037219 p.Ile185Val LB/B rs17854653 - MRM3 Q9HC36 VAR_037220 p.Glu326Gln LB/B rs35780267 - MRNIP Q6NTE8 VAR_039990 p.Gln97Arg LB/B rs1650893 - MRNIP Q6NTE8 VAR_039991 p.Arg154Gly LB/B rs248248 - MRNIP Q6NTE8 VAR_039992 p.Gln231Arg LB/B rs10277 - MRNIP Q6NTE8 VAR_054030 p.Gln42Arg LB/B rs1650893 - MRO Q9BYG7 VAR_027261 p.Arg39Ser LB/B rs4940019 - MRO Q9BYG7 VAR_027262 p.Thr134Ala LB/B rs2849233 - MROH1 Q8NDA8 VAR_062166 p.Ala38Val LB/B rs34819224 - MROH2A A6NES4 VAR_046073 p.Ala11Asp LB/B rs6431631 - MROH2A A6NES4 VAR_046074 p.Tyr271His LB/B rs1500481 - MROH2A A6NES4 VAR_046075 p.Glu329Gly LB/B rs2361503 - MROH2A A6NES4 VAR_046076 p.Lys489Asn LB/B rs11563246 - MROH2A A6NES4 VAR_046077 p.Trp978Arg LB/B rs726016 - MROH2A A6NES4 VAR_046078 p.Gln1041Glu LB/B rs719418 - MROH2A A6NES4 VAR_046079 p.Ser1075Thr LB/B rs17864722 - MROH2A A6NES4 VAR_046080 p.Phe1107Ser LB/B rs1500480 - MROH2A A6NES4 VAR_046081 p.Arg1141Cys LB/B rs28900688 - MROH2A A6NES4 VAR_046082 p.Val1184Met LB/B rs6734083 - MROH2A A6NES4 VAR_046085 p.Ala1410Thr LB/B rs28900693 - MROH2A A6NES4 VAR_046086 p.Thr1454Ala LB/B rs28900694 - MROH2A A6NES4 VAR_046087 p.Met1537Val LB/B rs11563074 - MROH2A A6NES4 VAR_046088 p.Phe1546Leu LB/B rs28900700 - MROH2A A6NES4 VAR_046089 p.Ala1562Thr LB/B rs879665 - MROH2A A6NES4 VAR_046090 p.Val1569Ile LB/B rs879664 - MROH2A A6NES4 VAR_046091 p.Pro1643Leu LB/B rs2270856 - MROH2B Q7Z745 VAR_042983 p.Met11Val LB/B rs13174484 - MROH2B Q7Z745 VAR_042984 p.Trp191Arg LB/B rs865093 - MROH2B Q7Z745 VAR_042985 p.Leu263Ile LB/B rs10045243 - MROH2B Q7Z745 VAR_042986 p.Glu468Val LB/B rs17198125 - MROH2B Q7Z745 VAR_042987 p.Val496Ile LB/B rs325864 - MROH2B Q7Z745 VAR_042988 p.Arg526His LB/B rs13173930 - MROH2B Q7Z745 VAR_042989 p.Lys617Asn LB/B rs17854768 - MROH2B Q7Z745 VAR_042990 p.Asp648Val LB/B rs16870720 - MROH2B Q7Z745 VAR_042991 p.Met781Val LB/B rs10067611 - MROH2B Q7Z745 VAR_042992 p.Asn918Lys LB/B rs10054110 - MROH2B Q7Z745 VAR_042993 p.Leu1179Pro LB/B rs2271704 - MROH6 A6NGR9 VAR_039305 p.His97Gln LB/B rs4873803 - MROH6 A6NGR9 VAR_039306 p.Val132Ala LB/B rs4874153 - MROH6 A6NGR9 VAR_039307 p.Thr134Ile LB/B rs10866911 - MROH6 A6NGR9 VAR_061595 p.Ala619Thr LB/B rs13255489 - MROH7 Q68CQ1 VAR_032218 p.His182Arg LB/B rs11206407 - MROH7 Q68CQ1 VAR_032219 p.Val290Met LB/B rs12094920 - MROH7 Q68CQ1 VAR_032220 p.Tyr306Asp LB/B rs1655519 - MROH7 Q68CQ1 VAR_032221 p.Ser312Phe LB/B rs17399810 - MROH7 Q68CQ1 VAR_032222 p.Glu316Gly LB/B rs1655518 - MROH7 Q68CQ1 VAR_032223 p.Thr352Met LB/B rs12074499 - MROH7 Q68CQ1 VAR_035495 p.Ser183Tyr US - A breast cancer sample MROH7 Q68CQ1 VAR_055042 p.Lys455Arg LB/B rs2304314 - MROH7 Q68CQ1 VAR_055043 p.Val509Ala LB/B rs480963 - MROH7 Q68CQ1 VAR_055044 p.His618Arg LB/B rs570218 - MROH9 Q5TGP6 VAR_031903 p.Asn29Ser LB/B rs17563089 - MROH9 Q5TGP6 VAR_031904 p.Val74Ala LB/B rs2294740 - MROH9 Q5TGP6 VAR_031905 p.Tyr160His LB/B rs16863872 - MRPL1 Q9BYD6 VAR_027865 p.Thr47Lys LB/B rs17851275 - MRPL1 Q9BYD6 VAR_027866 p.Phe177Ser LB/B rs17855456 - MRPL10 Q7Z7H8 VAR_030078 p.Val125Ile LB/B rs11538868 - MRPL10 Q7Z7H8 VAR_083398 p.Arg166Trp US rs754258802 - MRPL12 P52815 VAR_052001 p.Ser105Pro LB/B rs11546280 - MRPL12 P52815 VAR_084463 p.Ala181Val LP/P rs577290119 Combined oxidative phosphorylation deficiency 45 (COXPD45) [MIM:618951] MRPL16 Q9NX20 VAR_052006 p.Gly29Ser LB/B rs7122468 - MRPL16 Q9NX20 VAR_052007 p.Arg199Gln LB/B rs12787462 - MRPL16 Q9NX20 VAR_052008 p.Arg207Cys LB/B rs491671 - MRPL18 Q9H0U6 VAR_024609 p.Arg6Gln LB/B rs1128670 - MRPL2 Q5T653 VAR_029470 p.Ser300Phe LB/B rs10456521 - MRPL22 Q9NWU5 VAR_029471 p.Gly154Ser LB/B rs3749671 - MRPL23 Q16540 VAR_057197 p.Arg11Gln LB/B rs34134444 - MRPL23 Q16540 VAR_057198 p.Gly32Ser LB/B rs2240197 - MRPL23 Q16540 VAR_057199 p.Ala34Val LB/B rs6512 - MRPL23 Q16540 VAR_057200 p.Asp81Asn LB/B rs4930142 - MRPL23 Q16540 VAR_057201 p.Ala122Thr LB/B rs12812 - MRPL27 Q9P0M9 VAR_052023 p.Thr24Ala LB/B rs17776919 - MRPL28 Q13084 VAR_052024 p.Asp160Glu LB/B rs11557302 - MRPL28 Q13084 VAR_054219 p.His27Tyr LB/B rs3194151 - MRPL28 Q13084 VAR_061806 p.Tyr230Cys LB/B rs13226 - MRPL3 P09001 VAR_020108 p.Met261Thr LB/B rs2291381 - MRPL3 P09001 VAR_066676 p.Pro317Arg LP/P rs387906962 Combined oxidative phosphorylation deficiency 9 (COXPD9) [MIM:614582] MRPL30 Q8TCC3 VAR_034462 p.Ala130Thr LB/B rs1044575 - MRPL35 Q9NZE8 VAR_030010 p.Pro19Ser LB/B rs10901 - MRPL35 Q9NZE8 VAR_034463 p.Ala80Pro LB/B rs34044771 - MRPL35 Q9NZE8 VAR_051803 p.Pro81Leu LB/B rs3192352 - MRPL35 Q9NZE8 VAR_054632 p.Ala24Thr LB/B rs17851803 - MRPL35 Q9NZE8 VAR_054633 p.Arg29His LB/B rs1051949 - MRPL35 Q9NZE8 VAR_054634 p.Tyr180Cys LB/B rs1052065 - MRPL37 Q9BZE1 VAR_025269 p.Leu322Val LB/B rs2275408 - MRPL37 Q9BZE1 VAR_025270 p.Cys366Ser LB/B rs13571 - MRPL38 Q96DV4 VAR_029472 p.Asp371His LB/B rs9191 - MRPL38 Q96DV4 VAR_059808 p.Arg99Trp LB/B rs34136221 - MRPL39 Q9NYK5 VAR_052041 p.Ser31Pro LB/B rs3989369 - MRPL40 Q9NQ50 VAR_016088 p.Arg129His LB/B rs7575 - MRPL40 Q9NQ50 VAR_061809 p.Leu11Pro LB/B rs1128399 - MRPL44 Q9H9J2 VAR_034464 p.Thr138Ile LB/B rs11546406 - MRPL44 Q9H9J2 VAR_070568 p.Leu156Arg LP/P rs143697995 Combined oxidative phosphorylation deficiency 16 (COXPD16) [MIM:615395] MRPL45 Q9BRJ2 VAR_061810 p.Gly298Val LB/B rs34749623 - MRPL46 Q9H2W6 VAR_052046 p.His106Tyr LB/B rs16941888 - MRPL47 Q9HD33 VAR_052042 p.Cys10Gly LB/B rs2339844 - MRPL47 Q9HD33 VAR_052043 p.Arg213His LB/B rs10513762 - MRPL48 Q96GC5 VAR_029473 p.Glu6Gly LB/B rs17850551 - MRPL49 Q13405 VAR_021991 p.Thr9Ala LB/B rs17146691 - MRPL50 Q8N5N7 VAR_029474 p.Leu127Phe LB/B rs8131 - MRPL51 Q4U2R6 VAR_030079 p.Met102Ile LB/B rs9526 - MRPL52 Q86TS9 VAR_030080 p.Gly5Val LB/B rs1135641 - MRPL52 Q86TS9 VAR_030081 p.Val19Ala LB/B rs4982685 - MRPL52 Q86TS9 VAR_052044 p.Lys104Arg LB/B rs11538931 - MRPL53 Q96EL3 VAR_029475 p.Ala4Ser LB/B rs1047911 - MRPL55 Q7Z7F7 VAR_030082 p.Arg24Cys LB/B rs822730 - MRPL55 Q7Z7F7 VAR_052045 p.Arg42His LB/B rs35265990 - MRPL58 Q14197 VAR_020045 p.Arg8Pro LB/B rs3744206 - MRPL58 Q14197 VAR_024604 p.Leu77Phe LB/B rs10512599 - MRPL58 Q14197 VAR_061767 p.Thr122Met LB/B rs34496172 - MRPL9 Q9BYD2 VAR_028136 p.Glu67Gly LB/B rs7007 - MRPL9 Q9BYD2 VAR_028137 p.Glu210Ala LB/B rs8480 - MRPS11 P82912 VAR_052054 p.Arg10Trp LB/B rs16941904 - MRPS11 P82912 VAR_052055 p.Gln51His LB/B rs16941907 - MRPS12 O15235 VAR_051820 p.His8Arg LB/B rs33988199 - MRPS14 O60783 VAR_082116 p.Arg108Cys LP/P rs990763738 Combined oxidative phosphorylation deficiency 38 (COXPD38) [MIM:618378] MRPS16 Q9Y3D3 VAR_031525 p.Tyr12His LB/B rs7905009 - MRPS18B Q9Y676 VAR_052056 p.Pro230Ala LB/B rs34315095 - MRPS2 Q9Y399 VAR_020128 p.His294Arg LB/B rs3748199 - MRPS2 Q9Y399 VAR_034479 p.Asp112Gly LB/B rs35140806 - MRPS2 Q9Y399 VAR_034480 p.Met158Val LB/B rs35293407 - MRPS2 Q9Y399 VAR_080787 p.Arg110Cys LP/P rs761334309 Combined oxidative phosphorylation deficiency 36 (COXPD36) [MIM:617950] MRPS2 Q9Y399 VAR_080788 p.Asp114Asn LP/P rs201229537 Combined oxidative phosphorylation deficiency 36 (COXPD36) [MIM:617950] MRPS2 Q9Y399 VAR_080789 p.Arg138His LP/P rs758539748 Combined oxidative phosphorylation deficiency 36 (COXPD36) [MIM:617950] MRPS21 P82921 VAR_024610 p.Arg51Gln LB/B rs4845 - MRPS21 P82921 VAR_051825 p.Cys50Arg LB/B rs10480 - MRPS22 P82650 VAR_042733 p.Arg170His LP/P rs119478059 Combined oxidative phosphorylation deficiency 5 (COXPD5) [MIM:611719] MRPS22 P82650 VAR_081186 p.Arg135Gln US rs774237195 Ovarian dysgenesis 7 (ODG7) [MIM:618117] MRPS22 P82650 VAR_081187 p.Arg202His US rs753345594 Ovarian dysgenesis 7 (ODG7) [MIM:618117] MRPS23 Q9Y3D9 VAR_076269 p.Pro40Arg LP/P - Combined oxidative phosphorylation deficiency 46 (COXPD46) [MIM:618952] MRPS24 Q96EL2 VAR_030077 p.Trp97Arg LB/B rs670573 - MRPS25 P82663 VAR_084766 p.Pro72Leu LP/P rs1192432123 Combined oxidative phosphorylation deficiency 50 (COXPD50) [MIM:619025] MRPS27 Q92552 VAR_047026 p.Gly284Asp LB/B rs3209157 - MRPS28 Q9Y2Q9 VAR_052047 p.Arg103Trp LB/B rs16919579 - MRPS28 Q9Y2Q9 VAR_084507 p.Lys119Arg LP/P rs1808705345 Combined oxidative phosphorylation deficiency 47 (COXPD47) [MIM:618958] MRPS30 Q9NP92 VAR_028023 p.Cys33Ser LB/B rs3747479 - MRPS30 Q9NP92 VAR_052048 p.Ala102Val LB/B rs35601455 - MRPS31 Q92665 VAR_052049 p.Thr241Met LB/B rs1854421 - MRPS31 Q92665 VAR_061812 p.Asp279Asn LB/B rs13508 - MRPS34 P82930 VAR_052050 p.Leu33Ile LB/B rs11552431 - MRPS34 P82930 VAR_080218 p.Glu13Lys LP/P rs1131692037 Combined oxidative phosphorylation deficiency 32 (COXPD32) [MIM:617664] MRPS35 P82673 VAR_052051 p.Leu6Ile LB/B rs35475802 - MRPS7 Q9Y2R9 VAR_030076 p.Ala2Val LB/B rs8075276 - MRPS7 Q9Y2R9 VAR_080411 p.Met184Val LP/P rs115047866 Combined oxidative phosphorylation deficiency 34 (COXPD34) [MIM:617872] MRPS9 P82933 VAR_047902 p.Ser13Leu LB/B rs13399067 - MRRF Q96E11 VAR_051885 p.Met216Val LB/B rs2297483 - MRS2 Q9HD23 VAR_023782 p.Pro35Ser LB/B rs2295651 - MRS2 Q9HD23 VAR_061129 p.Pro412Ser LB/B rs35261004 - MRTFA Q969V6 VAR_021409 p.Ser648Gly LB/B rs878756 - MRTFB Q9ULH7 VAR_064732 p.Asp390Gly US - - MS4A10 Q96PG2 VAR_057652 p.Pro219Leu LB/B rs12419635 - MS4A12 Q9NXJ0 VAR_057653 p.Ala10Asp LB/B rs12788393 - MS4A13 Q5J8X5 VAR_057654 p.Pro58Leu LB/B rs6591595 - MS4A13 Q5J8X5 VAR_062124 p.Gly3Asp LB/B rs55756397 - MS4A13 Q5J8X5 VAR_062125 p.Ile7Val LB/B rs10736706 - MS4A14 Q96JA4 VAR_039330 p.Asn177Tyr LB/B rs7131283 - MS4A14 Q96JA4 VAR_039331 p.Gly584Arg LB/B rs3825020 - MS4A15 Q8N5U1 VAR_053524 p.Ser20Gly LB/B rs12363342 - MS4A15 Q8N5U1 VAR_053525 p.Leu47Arg LB/B rs1032939 - MS4A2 Q01362 VAR_003965 p.Glu237Gly LB/B rs569108 - MS4A2 Q01362 VAR_053515 p.Thr143Met LB/B rs35033981 - MS4A2 Q01362 VAR_053516 p.Asn211Lys LB/B rs535630 - MS4A4A Q96JQ5 VAR_024540 p.Met178Val LB/B rs6591561 - MS4A4A Q96JQ5 VAR_053517 p.Lys52Glu LB/B rs10750931 - MS4A4A Q96JQ5 VAR_062123 p.Leu191Ile LB/B rs4644658 - MS4A5 Q9H3V2 VAR_036402 p.Leu123Arg US - A colorectal cancer sample MS4A6A Q9H2W1 VAR_015652 p.Ala183Ser LB/B rs1440597159 - MS4A6A Q9H2W1 VAR_015653 p.Thr185Ser LB/B rs7232 - MS4A6E Q96DS6 VAR_015654 p.Val47Phe LB/B rs2304933 - MS4A6E Q96DS6 VAR_053518 p.Ile6Val LB/B rs2304935 - MS4A6E Q96DS6 VAR_053519 p.Thr10Ala LB/B rs2304934 - MS4A7 Q9GZW8 VAR_053520 p.Glu34Lys LB/B rs2233241 - MS4A7 Q9GZW8 VAR_053521 p.Pro112His LB/B rs2233249 - MS4A7 Q9GZW8 VAR_053522 p.Ser157Phe LB/B rs2233251 - MS4A8 Q9BY19 VAR_053523 p.Val95Leu LB/B rs35956659 - MSGN1 A6NI15 VAR_061259 p.Glu80Asp LB/B rs34069439 - MSGN1 A6NI15 VAR_061260 p.His104Tyr LB/B rs35858730 - MSH2 P43246 VAR_004470 p.His46Gln LP/P rs33946261 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_004471 p.Arg96His LB/B rs63750002 - MSH2 P43246 VAR_004472 p.Asn139Ser LP/P rs1553350676 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_004473 p.Ile145Met US rs63750124 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_004474 p.Asp167His LP/P rs63750255 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_004476 p.Ala305Thr LP/P rs63751454 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_004477 p.Gly322Asp LB/B rs4987188 - MSH2 P43246 VAR_004478 p.Leu390Phe US rs17224367 Colorectal cancer (CRC) [MIM:114500] MSH2 P43246 VAR_004478 p.Leu390Phe US rs17224367 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_004479 p.Arg524Pro LP/P rs63751207 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_004480 p.Glu562Val LP/P rs63750997 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_004482 p.Pro622Leu LP/P rs28929483 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_004483 p.His639Tyr LP/P rs28929484 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_004484 p.Cys641Gly LB/B rs63749946 - MSH2 P43246 VAR_004485 p.Gly674Ser LP/P rs63750234 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_004486 p.Cys697Phe LP/P rs63750398 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_004487 p.Ile770Val LB/B rs63750684 - MSH2 P43246 VAR_004488 p.Ala834Thr LP/P rs63750757 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_004489 p.Thr905Arg US rs267608022 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_009250 p.Gly692Arg LP/P rs63750232 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_009251 p.Cys697Arg LP/P rs63750961 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_012936 p.Val161Asp LP/P rs63750126 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_012937 p.Cys199Arg US rs63751110 Glioma MSH2 P43246 VAR_012938 p.Ile216Val US rs63749936 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_012939 p.Ser323Cys US rs63750732 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_012940 p.Gln419Lys US rs63750006 Colorectal cancer (CRC) [MIM:114500] MSH2 P43246 VAR_012941 p.Asp506Tyr LP/P rs63750492 Colorectal cancer (CRC) [MIM:114500] MSH2 P43246 VAR_012941 p.Asp506Tyr LP/P rs63750492 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_012942 p.Ser554Arg US rs63751656 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_012943 p.Asn596Ser US rs41295288 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_012944 p.Ala636Pro LP/P rs63750875 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_012945 p.Met688Ile LP/P rs63750790 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_013171 p.Thr8Met LB/B rs17217716 - MSH2 P43246 VAR_013172 p.Lys845Glu LP/P rs63750571 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_019233 p.Tyr43Cys LB/B rs17217723 - MSH2 P43246 VAR_019234 p.Asn127Ser LP/P rs17217772 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_022670 p.Val163Gly LP/P rs63750214 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_022671 p.Asp660Gly LP/P rs1085308057 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_038026 p.Arg106Lys LB/B rs41295286 - MSH2 P43246 VAR_038027 p.Pro670Leu LB/B rs41294982 - MSH2 P43246 VAR_038028 p.Met779Ile LB/B rs41295292 - MSH2 P43246 VAR_038029 p.Thr807Ser LB/B rs41295294 - MSH2 P43246 VAR_038030 p.Asn835His LB/B rs41295296 - MSH2 P43246 VAR_038031 p.Leu911Arg LB/B rs41295182 - MSH2 P43246 VAR_043736 p.Ser13Ile US rs63749907 Colorectal cancer (CRC) [MIM:114500] MSH2 P43246 VAR_043737 p.Val17Phe US rs63750966 Gastric cancer MSH2 P43246 VAR_043738 p.Thr33Pro LP/P rs63751107 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043739 p.Gly40Ser US rs63751260 Colorectal cancer (CRC) [MIM:114500] MSH2 P43246 VAR_043740 p.Thr44Met US rs587779085 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043741 p.Ala45Val US rs63750285 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043743 p.Leu93Phe LP/P rs63751429 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043744 p.Tyr98Cys US rs63750887 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043745 p.Val102Ile LP/P rs193922373 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043746 p.Lys110Thr LP/P - Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043747 p.Gly162Arg LP/P rs63750624 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043748 p.Val163Asp LP/P rs63750214 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043749 p.Gly164Arg LP/P rs63750582 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043750 p.Ile169Val US rs63750716 Colorectal cancer (CRC) [MIM:114500] MSH2 P43246 VAR_043750 p.Ile169Val US rs63750716 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043751 p.Leu173Pro LP/P rs63750070 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043752 p.Leu175Pro LP/P rs63751291 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043753 p.Leu187Pro LP/P rs63751444 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043754 p.Gly203Arg US rs587779973 Colorectal cancer (CRC) [MIM:114500] MSH2 P43246 VAR_043755 p.Lys246Gln US rs63750881 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043756 p.Ala272Val US rs34136999 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043757 p.Asp283Tyr LP/P rs63750381 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043758 p.Ser323Tyr US rs63750732 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043759 p.Cys333Tyr LP/P rs63750828 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043760 p.Thr335Ile US rs63750602 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043761 p.Pro336Ser LP/P rs63751062 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043762 p.Val342Ile US rs63749879 Colorectal cancer (CRC) [MIM:114500] MSH2 P43246 VAR_043763 p.Pro349Leu LP/P rs587779067 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043764 p.Arg359Ser LP/P rs63751617 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043765 p.Lys393Met LP/P rs1558478490 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043767 p.Met492Val LP/P - Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043768 p.Thr552Pro LP/P rs63750838 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043769 p.Thr564Ala US rs55778204 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043770 p.Asn583Ser LP/P rs201118107 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043771 p.Ala600Val LP/P rs63751236 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043772 p.Asp603Asn LP/P rs63750657 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043773 p.Tyr619Cys US rs63749982 Colorectal cancer (CRC) [MIM:114500] MSH2 P43246 VAR_043774 p.Gln629Arg US rs61756468 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043775 p.His639Arg LP/P rs587779116 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043776 p.Glu647Lys LP/P - Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043777 p.Tyr656His LP/P rs1573567393 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043778 p.Asn671Tyr US rs63751232 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043779 p.Ile679Thr LP/P - Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043780 p.Ala714Val US rs63751224 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043781 p.Ser723Phe LP/P rs63750794 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043782 p.Met729Val LP/P rs1558520059 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043783 p.Thr732Ile LP/P rs730881765 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043785 p.Glu749Lys LP/P rs63751477 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043786 p.Met813Val LP/P rs63749841 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043787 p.Gln824Glu US rs63750623 Gastric cancer MSH2 P43246 VAR_043788 p.His839Arg LP/P rs63750027 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043789 p.Glu853Ala US rs63750797 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043790 p.Pro868Ala US rs63751400 Gastric cancer MSH2 P43246 VAR_043791 p.Ala870Gly US rs63750709 Gastric cancer MSH2 P43246 VAR_043792 p.Cys873Gly US rs63750795 Gastric cancer MSH2 P43246 VAR_043793 p.Glu886Gly US rs63750350 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043794 p.Val923Glu US rs146421227 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_043795 p.Lys931Thr LP/P rs267608023 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_054511 p.Ala2Thr LP/P rs63750466 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_054512 p.Gly162Ala LP/P rs63750773 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_054513 p.Glu198Gly LP/P rs63750327 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_054514 p.Asn331Asp LP/P rs267607938 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_054515 p.Val470Glu LP/P rs267607959 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_054516 p.His610Asn LP/P rs267607980 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_054517 p.Arg638Gly LP/P rs267607981 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_054518 p.Gln645Glu LP/P rs267607982 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_054519 p.Pro696Leu LP/P rs267607994 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_054520 p.Asp748Tyr LP/P rs267608007 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_054521 p.His839Gln LP/P rs267608016 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_067284 p.Tyr165Asp US rs587779163 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_067285 p.Glu177His US - Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_067286 p.Pro385Leu US rs564736113 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_067287 p.Phe519Leu US rs1371291280 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_067288 p.Gly674Arg LP/P rs63750234 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_067289 p.Lys675Ala US rs587779128 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_067290 p.Gly759Glu US rs386833406 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_067291 p.Leu805Val US - Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_067292 p.Cys843Gly US - Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_067293 p.Ser860Leu US rs63750849 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_067761 p.Gly669Arg LP/P rs63751668 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_068705 p.Glu205Gln LB/B rs63749984 - MSH2 P43246 VAR_068706 p.Ala328Pro LB/B rs753237286 - MSH2 P43246 VAR_068707 p.Val367Ile LB/B rs80285180 - MSH2 P43246 VAR_068708 p.Asp487Glu LB/B rs35107951 - MSH2 P43246 VAR_068709 p.Lys909Ile LB/B rs34319539 - MSH2 P43246 VAR_076352 p.Leu187Arg LP/P rs63751444 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_076353 p.Gly674Ala LP/P rs267607996 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_076354 p.Met688Val LP/P - Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_076355 p.Val722Ile LP/P rs587781996 Lynch syndrome 1 (LYNCH1) [MIM:120435] MSH2 P43246 VAR_079822 p.Pro5Gln LB/B rs56170584 - MSH2 P43246 VAR_079823 p.Arg55Gly LB/B rs587782354 - MSH2 P43246 VAR_079824 p.Arg534Pro LB/B rs587778523 - MSH2 P43246 VAR_079825 p.Met813Ile LB/B rs587781678 - MSH3 P20585 VAR_016160 p.Phe709Leu LB/B rs1805354 - MSH3 P20585 VAR_016161 p.Gln949Arg LB/B rs184967 - MSH3 P20585 VAR_016162 p.Ala1045Thr LB/B rs26279 - MSH3 P20585 VAR_016163 p.Thr1054Ala LB/B rs1805131 - MSH3 P20585 VAR_020936 p.Ile79Val LB/B rs1650697 - MSH3 P20585 VAR_055251 p.Tyr789Phe LB/B rs10067975 - MSH4 O15457 VAR_018831 p.Ala60Val LB/B rs5745311 - MSH4 O15457 VAR_018832 p.Ala90Thr LB/B rs5745324 - MSH4 O15457 VAR_018833 p.Ala97Thr LB/B rs5745325 - MSH4 O15457 VAR_018834 p.Glu162Lys LB/B rs5745329 - MSH4 O15457 VAR_018835 p.Tyr589Cys LB/B rs5745459 - MSH4 O15457 VAR_018836 p.Ser914Asn LB/B rs5745549 - MSH4 O15457 VAR_087408 p.Gly82Ser US - Spermatogenic failure 2 (SPGF2) [MIM:108420] MSH4 O15457 VAR_087411 p.Pro638Leu LP/P - Spermatogenic failure 2 (SPGF2) [MIM:108420] MSH4 O15457 VAR_087414 p.Ser754Leu LP/P rs377712900 Premature ovarian failure 20 (POF20) [MIM:619938] MSH4 O15457 VAR_087414 p.Ser754Leu LP/P rs377712900 Spermatogenic failure 2 (SPGF2) [MIM:108420] MSH5 O43196 VAR_025082 p.Pro29Ser LB/B rs2075789 - MSH5 O43196 VAR_025083 p.Leu85Phe LB/B rs28381349 - MSH5 O43196 VAR_025084 p.Tyr202Cys LB/B rs28381358 - MSH5 O43196 VAR_025085 p.Val206Phe LB/B rs28381359 - MSH5 O43196 VAR_025086 p.Arg351Gly LB/B rs28399976 - MSH5 O43196 VAR_025087 p.Leu377Phe LB/B rs28399977 - MSH5 O43196 VAR_025088 p.Pro786Ser LB/B rs1802127 - MSH5 O43196 VAR_078116 p.Leu353Met US - Premature ovarian failure 13 (POF13) [MIM:617442] MSH5 O43196 VAR_078117 p.Asp487Tyr LP/P rs1060505055 Premature ovarian failure 13 (POF13) [MIM:617442] MSH5 O43196 VAR_078118 p.Ile703Val US rs752657544 Premature ovarian failure 13 (POF13) [MIM:617442] MSH5 O43196 VAR_087415 p.Arg322Cys US - Spermatogenic failure 74 (SPGF74) [MIM:619937] MSH6 P52701 VAR_004490 p.Gly39Glu LB/B rs1042821 - MSH6 P52701 VAR_004491 p.Asp1213Val LB/B - - MSH6 P52701 VAR_004492 p.Val1260Ile LB/B rs63750673 - MSH6 P52701 VAR_012955 p.Ser144Ile US rs3211299 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_012955 p.Ser144Ile US rs3211299 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_012956 p.Glu220Asp LB/B rs1800938 - MSH6 P52701 VAR_012957 p.Ser285Ile US rs63750878 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_012958 p.Leu396Val US rs2020908 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_012959 p.Gly566Arg LP/P rs63749973 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_012959 p.Gly566Arg LP/P rs63749973 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_012960 p.Gln698Glu US rs63750832 - MSH6 P52701 VAR_012961 p.Val800Leu LB/B rs61748083 - MSH6 P52701 VAR_012962 p.Asp803Gly US rs63751450 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_012963 p.Tyr850Cys US rs63750389 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_012963 p.Tyr850Cys US rs63750389 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_012964 p.Val878Ala US rs2020912 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_012964 p.Val878Ala US rs2020912 Endometrial cancer (ENDMC) [MIM:608089] MSH6 P52701 VAR_012964 p.Val878Ala US rs2020912 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_012965 p.Arg976His US rs63751113 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_012966 p.Pro1087Thr US rs63750998 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_012966 p.Pro1087Thr US rs63750998 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_014902 p.Ile886Val LB/B rs2020914 - MSH6 P52701 VAR_029244 p.Pro623Ala LB/B rs3136334 - MSH6 P52701 VAR_038032 p.Lys13Thr LB/B rs41294988 - MSH6 P52701 VAR_038033 p.Ala25Val LB/B rs35462442 - MSH6 P52701 VAR_038034 p.Ser65Leu LB/B rs41294984 - MSH6 P52701 VAR_038035 p.Arg468His LB/B rs41295268 - MSH6 P52701 VAR_038036 p.Ser503Cys US rs63750897 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_038037 p.Tyr538Ser LB/B rs728619 - MSH6 P52701 VAR_038038 p.Ser580Leu LB/B rs41295270 - MSH6 P52701 VAR_038039 p.Val1232Leu LB/B rs41295276 - MSH6 P52701 VAR_038040 p.Glu1234Gln LB/B rs35717727 - MSH6 P52701 VAR_038041 p.Arg1321Gly LB/B rs41295278 - MSH6 P52701 VAR_042274 p.Glu221Asp LB/B rs41557217 - MSH6 P52701 VAR_042275 p.Met492Val US rs61754783 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_043943 p.Ala20Val US rs63750664 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043943 p.Ala20Val US rs63750664 Endometrial cancer (ENDMC) [MIM:608089] MSH6 P52701 VAR_043943 p.Ala20Val US rs63750664 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_043944 p.Gly54Ala US rs63751098 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043945 p.Lys99Asn US rs63751258 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043946 p.Arg128Leu US rs63750143 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_043947 p.Lys295Arg LB/B rs267608051 - MSH6 P52701 VAR_043948 p.Phe340Ser US rs61753793 Breast cancer MSH6 P52701 VAR_043948 p.Phe340Ser US rs61753793 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043948 p.Phe340Ser US rs61753793 Leukemia MSH6 P52701 VAR_043949 p.Leu449Pro US rs63750741 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043949 p.Leu449Pro US rs63750741 Endometrial cancer (ENDMC) [MIM:608089] MSH6 P52701 VAR_043950 p.Val509Ala LB/B rs63751005 - MSH6 P52701 VAR_043951 p.Gln522Arg US rs63751009 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043952 p.Glu619Asp US rs63751121 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043953 p.Pro623Leu US rs63750462 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_043954 p.Gly685Ala US rs63750358 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043955 p.Ile725Met US rs63750304 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043956 p.Lys728Thr US rs35552856 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_043957 p.Arg772Gln US rs63750725 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043958 p.Arg772Trp LP/P rs63750138 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_043959 p.Ala787Val US rs63750637 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043960 p.Val800Ala LP/P rs63750895 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043961 p.Lys854Met US rs34374438 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043962 p.Arg901His US rs63749889 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043962 p.Arg901His US rs63749889 Endometrial cancer (ENDMC) [MIM:608089] MSH6 P52701 VAR_043963 p.Ala1021Asp US rs63750287 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043964 p.Asp1031Val US rs63750804 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043965 p.Arg1076Cys US rs63750617 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043966 p.Arg1095His US rs63750253 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043966 p.Arg1095His US rs63750253 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_043967 p.Thr1100Met US rs63750442 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043968 p.Cys1158Arg US rs63750157 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043969 p.Glu1163Val LP/P rs63750252 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_043970 p.Glu1193Lys LP/P rs63751328 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_043971 p.Thr1219Ile US rs63750949 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043972 p.His1248Asp US rs63750882 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043973 p.Thr1284Met US rs63750836 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043974 p.Leu1354Gln US rs267608140 Colorectal cancer (CRC) [MIM:114500] MSH6 P52701 VAR_043974 p.Leu1354Gln US rs267608140 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_067294 p.Ala25Ser US rs267608026 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_067295 p.Ala326Val US rs587779323 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_067296 p.Lys610Asn US rs201735525 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_067297 p.Asp1026Tyr US rs267608054 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_067298 p.Pro1087Ser US rs63750998 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_067299 p.Thr1225Met US rs63750370 Lynch syndrome 5 (LYNCH5) [MIM:614350] MSH6 P52701 VAR_068710 p.Leu435Pro LB/B rs63751405 - MSH6 P52701 VAR_068711 p.Leu585Pro LB/B rs587779220 - MSH6 P52701 VAR_068712 p.Ser677Thr LB/B rs587779224 - MSH6 P52701 VAR_076357 p.Pro1087Arg LB/B rs63750753 - MSI1 O43347 VAR_035485 p.Glu160Gln US - A breast cancer sample MSL3 Q8N5Y2 VAR_048732 p.Lys199Gln LB/B rs1051595 - MSL3 Q8N5Y2 VAR_069061 p.Ser2Thr LB/B rs150938844 - MSL3 Q8N5Y2 VAR_082956 p.Leu308Pro US rs1555906707 Basilicata-Akhtar syndrome (MRXSBA) [MIM:301032] MSLN Q13421 VAR_028381 p.Ala72Val LB/B rs9927389 - MSLN Q13421 VAR_028382 p.Arg309Pro LB/B rs17850474 - MSLN Q13421 VAR_028383 p.Met601Val LB/B rs1135210 - MSLN Q13421 VAR_054012 p.Gly497Glu LB/B rs35935235 - MSLNL Q96KJ4 VAR_039257 p.Asp463Val LB/B rs12599363 - MSLNL Q96KJ4 VAR_039258 p.Ser597Gly LB/B rs9746539 - MSMB P08118 VAR_011935 p.Leu17Ser LB/B rs1804776 - MSMB P08118 VAR_011936 p.Ile25Met LB/B rs1804778 - MSMB P08118 VAR_011937 p.Trp52Arg LB/B rs1804780 - MSMB P08118 VAR_011938 p.Gln53Arg LB/B rs1804468 - MSMB P08118 VAR_011939 p.Asp80Ala LB/B rs1802774 - MSMB P08118 VAR_011940 p.Ile87Thr LB/B rs1802771 - MSMB P08118 VAR_011941 p.Glu91Gly LB/B rs1804469 - MSMB P08118 VAR_011942 p.Asp92Gly LB/B rs1804461 - MSMB P08118 VAR_011943 p.Val98Leu LB/B rs1804464 - MSMO1 Q15800 VAR_048898 p.Asn124Ser LB/B rs34499452 - MSMO1 Q15800 VAR_076531 p.Gly115Arg US rs1310714454 Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834] MSMO1 Q15800 VAR_076532 p.His173Gln LP/P rs869025576 Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834] MSMO1 Q15800 VAR_076533 p.Tyr244Cys LP/P rs760048191 Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834] MSMP Q1L6U9 VAR_043818 p.Gly116Val LB/B rs3750436 - MSN P26038 VAR_078026 p.Arg171Trp LP/P rs1057519074 Immunodeficiency 50 (IMD50) [MIM:300988] MSR1 P21757 VAR_025190 p.Phe23Cys LB/B rs35175081 - MSR1 P21757 VAR_025191 p.Pro275Ala LB/B rs2229388 - MSR1 P21757 VAR_052061 p.Thr269Ile LB/B rs13306543 - MSR1 P21757 VAR_066581 p.Pro36Ala LB/B rs749666450 - MSR1 P21757 VAR_066582 p.Ser41Tyr LB/B rs145597376 - MSR1 P21757 VAR_066583 p.Val113Ala LB/B rs117359034 - MSR1 P21757 VAR_066584 p.Asp174Tyr LB/B rs72552387 - MSR1 P21757 VAR_066585 p.Leu254Val LB/B rs387906645 - MSR1 P21757 VAR_066586 p.Gly369Ser LB/B rs776370129 - MSR1 P21757 VAR_066587 p.His441Arg LB/B rs138749399 - MSRB2 Q9Y3D2 VAR_050448 p.Glu46Gly LB/B rs2296466 - MSRB3 Q8IXL7 VAR_064904 p.Cys89Gly LP/P rs387907088 Deafness, autosomal recessive, 74 (DFNB74) [MIM:613718] MSS51 Q4VC12 VAR_052993 p.Leu417Pro LB/B rs11591720 - MST1 P26927 VAR_006631 p.Cys13Tyr LB/B - - MST1 P26927 VAR_006632 p.Cys212Phe LB/B - - MST1 P26927 VAR_059787 p.Ser551Gly LB/B rs6791037 - MST1 P26927 VAR_070224 p.Arg689Cys LB/B rs3197999 - MST1R Q04912 VAR_006350 p.Arg322Gln LB/B rs2230593 - MST1R Q04912 VAR_024577 p.Arg1335Gly LB/B rs1062633 - MST1R Q04912 VAR_029238 p.Ser434Leu LB/B rs2230591 - MST1R Q04912 VAR_029239 p.Asn440Ser LB/B rs2230592 - MST1R Q04912 VAR_041768 p.Arg75Ser LB/B rs35887539 - MST1R Q04912 VAR_041769 p.Pro95Thr LB/B rs55908300 - MST1R Q04912 VAR_041770 p.Arg185Cys LB/B rs55633379 - MST1R Q04912 VAR_041771 p.Gly356Asp LB/B rs35924402 - MST1R Q04912 VAR_041772 p.Gly465Asp LB/B rs34564898 - MST1R Q04912 VAR_041773 p.Arg504Cys LB/B rs34350470 - MST1R Q04912 VAR_041774 p.Gln523Arg LB/B rs2230590 - MST1R Q04912 VAR_041775 p.Gln613Pro LB/B rs35986685 - MST1R Q04912 VAR_041776 p.Val900Met LB/B rs56091918 - MST1R Q04912 VAR_041777 p.Arg1304Gly LB/B rs528985327 - MST1R Q04912 VAR_041778 p.Tyr1360Cys LB/B rs56330223 - MST1R Q04912 VAR_061749 p.Gly1195Ser LB/B rs7433231 - MST1R Q04912 VAR_076928 p.Arg306His LP/P rs200046052 Nasopharyngeal carcinoma, 3 (NPCA3) [MIM:617075] MST1R Q04912 VAR_076929 p.Ala327Thr US rs200757776 Nasopharyngeal carcinoma, 3 (NPCA3) [MIM:617075] MST1R Q04912 VAR_076930 p.Val670Gly US rs201024956 Nasopharyngeal carcinoma, 3 (NPCA3) [MIM:617075] MST1R Q04912 VAR_076931 p.Ala973Thr US rs773053723 Nasopharyngeal carcinoma, 3 (NPCA3) [MIM:617075] MSTN O14793 VAR_014475 p.Ala55Thr LB/B rs1805085 - MSTN O14793 VAR_014476 p.Lys153Arg LB/B rs1805086 - MSTN O14793 VAR_052575 p.Ile348Thr LB/B rs34780010 - MSTN O14793 VAR_052576 p.Arg371Gly LB/B rs16823988 - MSTO1 Q9BUK6 VAR_035046 p.Thr324Ile US rs622288 Myopathy, mitochondrial, and ataxia (MMYAT) [MIM:617675] MSTO1 Q9BUK6 VAR_079889 p.Val8Met LP/P rs762798018 Myopathy, mitochondrial, and ataxia (MMYAT) [MIM:617675] MSTO1 Q9BUK6 VAR_079890 p.Arg345Cys US rs749922789 Myopathy, mitochondrial, and ataxia (MMYAT) [MIM:617675] MSTO1 Q9BUK6 VAR_079891 p.Phe376Leu US rs1553295536 Myopathy, mitochondrial, and ataxia (MMYAT) [MIM:617675] MSX1 P28360 VAR_003754 p.Arg202Pro LP/P rs121913129 Tooth agenesis, selective, 1 (STHAG1) [MIM:106600] MSX1 P28360 VAR_015712 p.Met67Lys LP/P rs121913130 Tooth agenesis, selective, 1 (STHAG1) [MIM:106600] MSX1 P28360 VAR_018391 p.Glu84Val LP/P rs28928890 Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874] MSX1 P28360 VAR_018392 p.Gly97Asp LP/P - Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874] MSX1 P28360 VAR_018393 p.Val120Gly LP/P rs759548721 Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874] MSX1 P28360 VAR_018394 p.Gly122Glu LP/P rs28933081 Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874] MSX1 P28360 VAR_018395 p.Arg157Ser LP/P rs150284621 Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874] MSX2 P35548 VAR_003755 p.Pro148His LP/P rs104893895 Craniosynostosis 2 (CRS2) [MIM:604757] MSX2 P35548 VAR_010201 p.Arg172His LP/P rs104893896 Parietal foramina 1 (PFM1) [MIM:168500] MSX2 P35548 VAR_010786 p.Leu154Pro LP/P - Parietal foramina 1 (PFM1) [MIM:168500] MSX2 P35548 VAR_010898 p.Met129Thr LB/B rs4242182 - MSX2 P35548 VAR_071634 p.Pro148Leu LP/P rs104893895 Craniosynostosis 2 (CRS2) [MIM:604757] MT-ATP6 P00846 VAR_000792 p.Thr59Ala LB/B rs2000975 - MT-ATP6 P00846 VAR_000793 p.Leu156Arg LP/P rs199476133 Leigh syndrome (LS) [MIM:256000] MT-ATP6 P00846 VAR_000793 p.Leu156Arg LP/P rs199476133 Neuropathy, ataxia, and retinitis pigmentosa (NARP) [MIM:551500] MT-ATP6 P00846 VAR_000794 p.Leu156Pro LP/P rs199476133 Ataxia and polyneuropathy, adult-onset (APAO) [MIM:500010] MT-ATP6 P00846 VAR_000794 p.Leu156Pro LP/P rs199476133 Leigh syndrome (LS) [MIM:256000] MT-ATP6 P00846 VAR_000794 p.Leu156Pro LP/P rs199476133 Mitochondrial complex V deficiency, mitochondrial 1 (MC5DM1) [MIM:500015] MT-ATP6 P00846 VAR_000795 p.Ile192Thr LP/P rs199476134 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ATP6 P00846 VAR_000796 p.Val213Ile LB/B rs2298010 - MT-ATP6 P00846 VAR_000797 p.Leu217Pro LP/P rs199476135 Leigh syndrome (LS) [MIM:256000] MT-ATP6 P00846 VAR_000797 p.Leu217Pro LP/P rs199476135 Mitochondrial infantile bilateral striatal necrosis (MIBSN) [MIM:500003] MT-ATP6 P00846 VAR_008556 p.Thr33Ser LB/B rs1603221645 - MT-ATP6 P00846 VAR_008557 p.His61Tyr LB/B - - MT-ATP6 P00846 VAR_008558 p.His90Tyr LB/B rs2298007 - MT-ATP6 P00846 VAR_008559 p.Thr112Ala LB/B rs2001031 - MT-ATP6 P00846 VAR_008560 p.Ala155Thr LB/B rs587776444 - MT-ATP6 P00846 VAR_008561 p.Ala177Thr LB/B rs193303045 - MT-ATP6 P00846 VAR_008562 p.Ser219Gly LB/B rs1556423628 - MT-ATP6 P00846 VAR_021178 p.Ala7Thr LB/B rs1603221578 - MT-ATP6 P00846 VAR_021179 p.Ala11Thr LB/B rs386829040 - MT-ATP6 P00846 VAR_021180 p.Ile14Val LB/B rs3020563 - MT-ATP6 P00846 VAR_021181 p.Gly16Ser LB/B rs28502681 - MT-ATP6 P00846 VAR_021182 p.Leu37Pro LB/B - - MT-ATP6 P00846 VAR_021183 p.Thr53Ile LB/B rs201336180 - MT-ATP6 P00846 VAR_021184 p.Met60Thr LB/B rs878959404 - MT-ATP6 P00846 VAR_021185 p.Ala80Thr LB/B rs1556423534 - MT-ATP6 P00846 VAR_021186 p.Phe117Leu LB/B rs201123510 - MT-ATP6 P00846 VAR_021187 p.Ile121Val LB/B rs1556423565 - MT-ATP6 P00846 VAR_021188 p.Thr133Ala LB/B rs200329150 - MT-ATP6 P00846 VAR_021189 p.Thr178Ala LB/B rs1556423599 - MT-ATP6 P00846 VAR_021190 p.Ser182Leu LB/B rs1603222032 - MT-ATP6 P00846 VAR_021191 p.Ile192Val LB/B rs1603222068 - MT-ATP6 P00846 VAR_021192 p.Phe193Leu LB/B rs1603222077 - MT-ATP6 P00846 VAR_021193 p.Ile204Thr LB/B rs1603222121 - MT-ATP6 P00846 VAR_073699 p.Ser148Asn LP/P rs794726857 Myopathy, lactic acidosis, and sideroblastic anemia 3 (MLASA3) [MIM:500011] MT-ATP6 P00846 VAR_073700 p.Leu220Pro LP/P rs199476138 Leigh syndrome (LS) [MIM:256000] MT-ATP8 P03928 VAR_008563 p.Leu17Pro LB/B rs1603221470 - MT-ATP8 P03928 VAR_008564 p.Phe21Ser LB/B - - MT-ATP8 P03928 VAR_008565 p.Met28Thr LB/B rs879056797 - MT-ATP8 P03928 VAR_069527 p.Trp55Arg LP/P rs387906422 Cardiomyopathy, infantile hypertrophic (CMHI) [MIM:500006] MT-ATP8 P03928 VAR_069527 p.Trp55Arg LP/P rs387906422 Mitochondrial complex V deficiency, mitochondrial 2 (MC5DM2) [MIM:516070] MT-CO1 P00395 VAR_008385 p.Met273Thr LB/B rs199476127 - MT-CO1 P00395 VAR_008386 p.Ile280Thr LB/B rs199476126 - MT-CO1 P00395 VAR_008566 p.Thr10Ala LB/B - - MT-CO1 P00395 VAR_008567 p.Phe94Cys LB/B - - MT-CO1 P00395 VAR_008568 p.Val155Leu LB/B rs370673798 - MT-CO1 P00395 VAR_008569 p.Gly224Ala LB/B - - MT-CO1 P00395 VAR_008570 p.Phe305Leu LB/B rs368552121 - MT-CO1 P00395 VAR_011342 p.Phe235Ser LB/B rs2853818 - MT-CO1 P00395 VAR_011343 p.Thr415Ala LB/B rs372136420 - MT-CO1 P00395 VAR_033055 p.Ser142Phe LP/P rs267606883 Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] MT-CO1 P00395 VAR_033056 p.Leu196Ile LP/P rs28461189 Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] MT-CO1 P00395 VAR_064154 p.Gly125Asp LP/P rs281865417 Colorectal cancer (CRC) [MIM:114500] MT-CO1 P00395 VAR_064155 p.Ser458Pro LP/P rs267606884 Colorectal cancer (CRC) [MIM:114500] MT-CO2 P00403 VAR_008390 p.Val142Met US rs199474826 Colorectal cancer MT-CO2 P00403 VAR_008571 p.Leu123Pro LB/B - - MT-CO2 P00403 VAR_008572 p.Thr187Met LB/B - - MT-CO2 P00403 VAR_008863 p.Asp11Ala LB/B - - MT-CO2 P00403 VAR_011344 p.Ile30Val LB/B rs1569484167 - MT-CO2 P00403 VAR_011345 p.Ala148Thr LB/B rs1116904 - MT-CO2 P00403 VAR_035085 p.Met29Lys LP/P rs199474827 Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] MT-CO3 P00414 VAR_002167 p.Gly78Ser LP/P rs267606611 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-CO3 P00414 VAR_002168 p.Ala200Thr LP/P rs200613617 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-CO3 P00414 VAR_002169 p.Phe251Leu US rs1556423753 - MT-CO3 P00414 VAR_008573 p.His3Arg LB/B rs1556423637 - MT-CO3 P00414 VAR_008574 p.Phe35Ser LB/B - - MT-CO3 P00414 VAR_008575 p.Val91Ile LB/B rs2853825 - MT-CO3 P00414 VAR_008576 p.Gln177Arg LB/B - - MT-CO3 P00414 VAR_008577 p.Val254Ile LB/B rs200809063 - MT-CYB P00156 VAR_002197 p.Asp171Asn US rs41518645 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-CYB P00156 VAR_002198 p.Gly339Glu US - - MT-CYB P00156 VAR_002199 p.Val356Met LP/P rs200336777 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-CYB P00156 VAR_008388 p.Arg80His US rs207459995 Colorectal cancer MT-CYB P00156 VAR_008389 p.Phe276Leu US rs207459996 Colorectal cancer MT-CYB P00156 VAR_008585 p.Thr7Ile LB/B rs193302980 - MT-CYB P00156 VAR_008586 p.Ala87Pro LB/B rs1603225017 - MT-CYB P00156 VAR_011339 p.Ala191Thr LB/B rs2853507 - MT-CYB P00156 VAR_011340 p.Thr194Ala LB/B rs2853508 - MT-CYB P00156 VAR_011341 p.Ala229Thr LB/B rs193302993 - MT-CYB P00156 VAR_013643 p.Asn8Ser LB/B rs28357679 - MT-CYB P00156 VAR_013644 p.Phe18Leu LB/B rs28357681 - MT-CYB P00156 VAR_013645 p.Gly34Ser LB/B rs207459998 - MT-CYB P00156 VAR_013646 p.Ala39Val LB/B rs1603224933 - MT-CYB P00156 VAR_013647 p.Ile78Thr LB/B rs200786872 - MT-CYB P00156 VAR_013648 p.Ala122Thr LB/B rs28357685 - MT-CYB P00156 VAR_013649 p.Thr123Ala LB/B rs1603225089 - MT-CYB P00156 VAR_013650 p.Ser151Pro LB/B rs207460001 - MT-CYB P00156 VAR_013651 p.Ile153Thr LB/B rs28357687 - MT-CYB P00156 VAR_013652 p.Ile164Val LB/B rs386829239 - MT-CYB P00156 VAR_013653 p.Gly166Glu LB/B rs1603225167 - MT-CYB P00156 VAR_013655 p.Leu236Ile LB/B rs193302994 - MT-CYB P00156 VAR_013656 p.Gly251Asp LP/P rs207460003 Cardiomyopathy, infantile histiocytoid (CMIH) [MIM:500000] MT-CYB P00156 VAR_013658 p.Asn255His US - - MT-CYB P00156 VAR_013659 p.Tyr278Cys LB/B rs207460002 - MT-CYB P00156 VAR_013660 p.Gly290Asp LB/B rs207459997 - MT-CYB P00156 VAR_013661 p.Ile306Thr LB/B rs369851331 - MT-CYB P00156 VAR_013662 p.Met316Thr LB/B rs200975632 - MT-CYB P00156 VAR_013663 p.Ala329Thr LB/B rs1556424652 - MT-CYB P00156 VAR_013664 p.Ala330Thr LB/B rs386829259 - MT-CYB P00156 VAR_013665 p.Ile334Val LB/B rs386829260 - MT-CYB P00156 VAR_013666 p.Val353Met LB/B rs1603225508 - MT-CYB P00156 VAR_013667 p.Thr360Ala LB/B rs28357376 - MT-CYB P00156 VAR_013668 p.Thr368Ile LB/B rs202225494 - MT-CYB P00156 VAR_015571 p.Ala39Thr LB/B rs2853505 - MT-CYB P00156 VAR_015572 p.Ile78Val LB/B rs199997767 - MT-CYB P00156 VAR_015573 p.Asn260Asp LB/B rs1603225331 - MT-CYB P00156 VAR_033058 p.Ser35Pro LB/B rs207460004 - MT-CYB P00156 VAR_033059 p.Gly251Ser LB/B rs199951903 - MT-ND1 P03886 VAR_004747 p.Ala4Thr LB/B rs2853516 - MT-ND1 P03886 VAR_004748 p.Tyr30His US rs41460449 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND1 P03886 VAR_004749 p.Met31Thr LP/P rs201212638 Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] MT-ND1 P03886 VAR_004750 p.Met31Val LP/P rs199476120 Alzheimer disease mitochondrial (AD-MT) [MIM:502500] MT-ND1 P03886 VAR_004751 p.Ala52Thr LP/P rs199476118 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND1 P03886 VAR_004752 p.Tyr277Cys LB/B rs199476121 - MT-ND1 P03886 VAR_004753 p.Leu285Pro US rs199476119 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND1 P03886 VAR_004754 p.Tyr304His US rs1599988 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND1 P03886 VAR_008587 p.Ser205Pro LB/B - - MT-ND1 P03886 VAR_008588 p.Tyr255Cys LB/B - - MT-ND1 P03886 VAR_008589 p.Leu288Pro LB/B - - MT-ND1 P03886 VAR_011346 p.Thr87Ala LB/B rs2854133 - MT-ND1 P03886 VAR_011347 p.Thr168Ala LB/B rs2854135 - MT-ND1 P03886 VAR_065195 p.Tyr30Cys LB/B rs1556422722 - MT-ND1 P03886 VAR_073352 p.Glu214Lys US rs199476123 - MT-ND2 P03891 VAR_004755 p.Asn150Asp LP/P rs28357980 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND2 P03891 VAR_004756 p.Gly259Ser LP/P rs199476115 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND2 P03891 VAR_004757 p.Ala331Thr LB/B rs3021088 - MT-ND2 P03891 VAR_004758 p.Ala331Ser LP/P - Alzheimer disease mitochondrial (AD-MT) [MIM:502500] MT-ND2 P03891 VAR_008590 p.Pro42Leu LB/B - - MT-ND2 P03891 VAR_008591 p.Ile57Thr LB/B rs41510547 - MT-ND2 P03891 VAR_008592 p.Gln63Arg LB/B - - MT-ND2 P03891 VAR_008593 p.Thr119Ala LB/B rs1556422903 - MT-ND2 P03891 VAR_008594 p.Ser148Pro LB/B - - MT-ND2 P03891 VAR_008595 p.Asn150Ser LB/B rs879058895 - MT-ND2 P03891 VAR_008596 p.Ile159Thr LB/B - - MT-ND2 P03891 VAR_008597 p.Thr185Ala LB/B - - MT-ND2 P03891 VAR_011348 p.Val43Ile LB/B rs1117207 - MT-ND2 P03891 VAR_011349 p.Ile69Val LB/B rs1556422884 - MT-ND2 P03891 VAR_011350 p.Asn88Ser LB/B rs201854167 - MT-ND2 P03891 VAR_011351 p.Leu237Met LB/B rs28357984 - MT-ND2 P03891 VAR_011352 p.Ala265Thr LB/B rs1603219855 - MT-ND2 P03891 VAR_011353 p.Ala265Val LB/B rs41320049 - MT-ND2 P03891 VAR_011354 p.Ile278Thr LB/B rs878853115 - MT-ND2 P03891 VAR_011355 p.Phe325Leu LB/B rs3020601 - MT-ND2 P03891 VAR_011356 p.Thr333Ala LB/B rs1603219973 - MT-ND2 P03891 VAR_084383 p.Leu71Pro US rs267606889 Leigh syndrome (LS) [MIM:256000] MT-ND3 P03897 VAR_008391 p.Asn10Asp LB/B rs28358274 - MT-ND3 P03897 VAR_008392 p.Thr114Ala LB/B rs2853826 - MT-ND3 P03897 VAR_008598 p.Met53Val LB/B - - MT-ND3 P03897 VAR_035091 p.Ser45Pro LP/P rs267606890 Mitochondrial complex I deficiency, mitochondrial type 1 (MC1DM1) [MIM:500014] MT-ND3 P03897 VAR_035092 p.Ala47Thr LP/P rs267606891 Leigh syndrome (LS) [MIM:256000] MT-ND3 P03897 VAR_035092 p.Ala47Thr LP/P rs267606891 Mitochondrial complex I deficiency, mitochondrial type 1 (MC1DM1) [MIM:500014] MT-ND3 P03897 VAR_064564 p.Ser34Pro LP/P rs199476117 Mitochondrial complex I deficiency, mitochondrial type 1 (MC1DM1) [MIM:500014] MT-ND3 P03897 VAR_084384 p.Gln26Lys US rs587780529 Leigh syndrome (LS) [MIM:256000] MT-ND4 P03905 VAR_004759 p.Thr109Ala LP/P rs199476113 Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] MT-ND4 P03905 VAR_004760 p.Arg340His LP/P rs199476112 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND4 P03905 VAR_008393 p.Val313Ile LP/P rs200873900 Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001] MT-ND4 P03905 VAR_008599 p.Ala79Pro LB/B - - MT-ND4 P03905 VAR_008600 p.Thr109Pro LB/B - - MT-ND4 P03905 VAR_008601 p.Ile132Thr LB/B rs1603223136 - MT-ND4 P03905 VAR_008602 p.Met294Thr LB/B - - MT-ND4 P03905 VAR_064565 p.Thr420Ala US rs879136236 - MT-ND4L P03901 VAR_008397 p.Val65Ala LP/P rs1556423844 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND4L P03901 VAR_008496 p.Cys32Arg US rs267606892 Colorectal cancer MT-ND4L P03901 VAR_008605 p.Met36Ile LB/B - - MT-ND4L P03901 VAR_008606 p.Asn57Ser LB/B rs1603222927 - MT-ND4L P03901 VAR_008607 p.Ile61Thr LB/B - - MT-ND5 P03915 VAR_004761 p.Ala458Thr LP/P rs28359178 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND5 P03915 VAR_004762 p.Gly465Glu LP/P rs387906425 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND5 P03915 VAR_008603 p.Ala475Thr LB/B rs386420024 - MT-ND5 P03915 VAR_008864 p.Pro17Ser LB/B - - MT-ND5 P03915 VAR_008865 p.Phe95Ser LB/B rs1603223838 - MT-ND5 P03915 VAR_008866 p.Ser99Pro LB/B rs1603223847 - MT-ND5 P03915 VAR_008867 p.Gly146Asp LB/B - - MT-ND5 P03915 VAR_008868 p.Ala160Val LB/B - - MT-ND5 P03915 VAR_008869 p.Asn165Ser LB/B - - MT-ND5 P03915 VAR_008870 p.Phe304Ser LB/B rs1603224108 - MT-ND5 P03915 VAR_008871 p.Thr331Ala LB/B rs1556424263 - MT-ND5 P03915 VAR_008872 p.Asp503Gly LB/B - - MT-ND5 P03915 VAR_011357 p.Thr211Pro LB/B rs1556424197 - MT-ND5 P03915 VAR_011358 p.Ile257Val LB/B rs2853501 - MT-ND5 P03915 VAR_011359 p.Met314Val LB/B rs2853502 - MT-ND5 P03915 VAR_035424 p.Phe124Leu LP/P rs267606893 Leigh syndrome (LS) [MIM:256000] MT-ND5 P03915 VAR_035425 p.Glu145Gly LP/P rs267606894 Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] MT-ND5 P03915 VAR_035426 p.Ala171Val LP/P rs267606899 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND5 P03915 VAR_035427 p.Ala236Thr LP/P rs267606898 Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] MT-ND5 P03915 VAR_035428 p.Met237Leu LP/P rs267606895 Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] MT-ND5 P03915 VAR_035429 p.Ser250Cys LP/P rs267606896 Leigh syndrome (LS) [MIM:256000] MT-ND5 P03915 VAR_035430 p.Asp393Asn LP/P rs267606897 Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] MT-ND5 P03915 VAR_064566 p.Val253Ala US rs1603224029 - MT-ND5 P03915 VAR_064567 p.Asn447Ser US rs1603224300 - MT-ND6 P03923 VAR_004763 p.Met64Val LP/P rs199476104 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND6 P03923 VAR_004764 p.Ala72Val LP/P rs199476105 Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001] MT-ND6 P03923 VAR_008394 p.Ile26Met LP/P rs387906424 Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001] MT-ND6 P03923 VAR_008395 p.Gly36Ser LP/P rs397515506 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND6 P03923 VAR_008396 p.Tyr59Cys LP/P rs869025186 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND6 P03923 VAR_008512 p.Met64Ile LP/P rs199476108 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND6 P03923 VAR_008604 p.Tyr165Cys LB/B rs200933339 - MT-ND6 P03923 VAR_014393 p.Val31Ala LB/B rs41354845 - MT-ND6 P03923 VAR_014394 p.Ile33Val LB/B rs386829219 - MT-ND6 P03923 VAR_014395 p.Ile58Val LB/B rs201327354 - MT-ND6 P03923 VAR_014396 p.Leu60Ser LP/P rs199476106 Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND6 P03923 VAR_014397 p.Ala74Val LP/P rs199476107 Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] MT-ND6 P03923 VAR_064568 p.Met63Val LP/P rs199476109 Leigh syndrome (LS) [MIM:256000] MT-RNR1 A0A0C5B5G6 VAR_075685 p.Lys14Gln US - - MT1A P04731 VAR_059436 p.Lys51Arg LB/B rs8052394 - MT1A P04731 VAR_060727 p.Thr27Asn LB/B rs11640851 - MT1M Q8N339 VAR_025310 p.Thr20Lys LB/B rs1827210 - MT2A P02795 VAR_025840 p.Ala42Val LB/B rs35109646 - MT4 P47944 VAR_034110 p.Tyr30Cys LB/B rs666636 - MT4 P47944 VAR_034111 p.Trp31Arg LB/B rs666647 - MT4 P47944 VAR_034112 p.Gly48Asp LB/B rs11643815 - MTA1 Q13330 VAR_055847 p.Val372Ile LB/B rs4983413 - MTA1 Q13330 VAR_058965 p.Ala612Thr LB/B rs13707 - MTAP Q13126 VAR_031470 p.Val56Ile LB/B rs7023954 - MTARC1 Q5VT66 VAR_030129 p.Thr165Ala LB/B rs2642438 - MTARC1 Q5VT66 VAR_030130 p.Met187Lys LB/B rs17850677 - MTARC1 Q5VT66 VAR_030131 p.Cys246Ser LB/B rs3738178 - MTARC1 Q5VT66 VAR_030132 p.Met268Ile LB/B rs2642419 - MTARC1 Q5VT66 VAR_056941 p.Val96Leu LB/B rs12023067 - MTARC1 Q5VT66 VAR_062273 p.Leu15His LB/B rs72470572 - MTARC1 Q5VT66 VAR_062274 p.Asp247His LB/B rs72470601 - MTARC2 Q969Z3 VAR_030133 p.Gly244Ser LB/B rs3795535 - MTARC2 Q969Z3 VAR_062275 p.Ala3Ser LB/B rs72472370 - MTARC2 Q969Z3 VAR_070777 p.Cys245Trp LB/B rs76664695 - MTCH2 Q9Y6C9 VAR_050128 p.Arg68Ser LB/B rs34072236 - MTCH2 Q9Y6C9 VAR_050129 p.Pro290Ala LB/B rs1064608 - MTCL1 Q9Y4B5 VAR_031073 p.Gln861Arg LB/B rs1965665 - MTCL1 Q9Y4B5 VAR_031074 p.Asp898Gly LB/B rs3744979 - MTCL1 Q9Y4B5 VAR_031075 p.Gly1097Ser LB/B rs12386117 - MTCL1 Q9Y4B5 VAR_031076 p.Lys1211Gln LB/B rs11874468 - MTCL1 Q9Y4B5 VAR_055942 p.Met602Thr LB/B rs35739383 - MTCL2 O94964 VAR_056848 p.Gln1231His LB/B rs34459518 - MTDH Q86UE4 VAR_054661 p.Thr317Ala LB/B rs17854374 - MTERF1 Q99551 VAR_024237 p.Ala294Thr LB/B rs10266424 - MTERF1 Q99551 VAR_053785 p.Ala231Thr LB/B rs17856025 - MTERF2 Q49AM1 VAR_034113 p.Leu14Val LB/B rs34238336 - MTERF2 Q49AM1 VAR_034114 p.Ala81Gly LB/B rs35548605 - MTERF2 Q49AM1 VAR_053787 p.Ala31Val LB/B rs35305400 - MTERF2 Q49AM1 VAR_053788 p.Val198Ile LB/B rs1043157 - MTERF3 Q96E29 VAR_053786 p.Glu396Gly LB/B rs7461970 - MTERF4 Q7Z6M4 VAR_028865 p.Thr45Ala LB/B rs3796093 - MTERF4 Q7Z6M4 VAR_028866 p.Met189Thr LB/B rs2286323 - MTERF4 Q7Z6M4 VAR_028867 p.Leu339Val LB/B rs2240539 - MTERF4 Q7Z6M4 VAR_028868 p.Asp347Glu LB/B rs10203977 - MTERF4 Q7Z6M4 VAR_028869 p.Asp378Glu LB/B rs10167328 - MTF2 Q9Y483 VAR_054765 p.Ser140Cys LB/B rs2815427 - MTFMT Q96DP5 VAR_059289 p.Val5Ala LB/B rs2946655 - MTFMT Q96DP5 VAR_069303 p.Ser125Leu LP/P rs397514614 Combined oxidative phosphorylation deficiency 15 (COXPD15) [MIM:614947] MTFMT Q96DP5 VAR_069304 p.Ser209Leu LP/P rs201431517 Combined oxidative phosphorylation deficiency 15 (COXPD15) [MIM:614947] MTFMT Q96DP5 VAR_069304 p.Ser209Leu LP/P rs201431517 Mitochondrial complex I deficiency, nuclear type 27 (MC1DN27) [MIM:618248] MTFR1L Q9H019 VAR_044084 p.Pro58Ser LB/B rs35448678 - MTG1 Q9BT17 VAR_062181 p.Ile293Val LB/B rs2255246 - MTG2 Q9H4K7 VAR_033983 p.Gly47Ser LB/B rs6062133 - MTG2 Q9H4K7 VAR_049299 p.His93Arg LB/B rs11700220 - MTG2 Q9H4K7 VAR_049300 p.Ala337Val LB/B rs35693261 - MTHFD1 P11586 VAR_010241 p.Arg293His LB/B rs34181110 - MTHFD1 P11586 VAR_010251 p.Arg653Gln LB/B rs2236225 - MTHFD1 P11586 VAR_016232 p.Lys134Arg LB/B rs1950902 - MTHFD1 P11586 VAR_032789 p.Thr761Met LB/B rs10813 - MTHFD1 P11586 VAR_032790 p.Leu769Phe LB/B rs17857382 - MTHFD1 P11586 VAR_055458 p.Pro162Leu LB/B rs4902283 - MTHFD1 P11586 VAR_074075 p.Ser49Phe LP/P rs370444838 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) [MIM:617780] MTHFD1 P11586 VAR_074076 p.Arg173Cys LP/P rs141210410 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) [MIM:617780] MTHFD1 P11586 VAR_074077 p.Thr269Ile LP/P rs771978838 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) [MIM:617780] MTHFD1 P11586 VAR_080873 p.Leu51Pro LP/P rs1555336810 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) [MIM:617780] MTHFD1L Q6UB35 VAR_044346 p.Leu444Arg US - A colorectal cancer sample MTHFR P42898 VAR_004319 p.Arg52Gln LP/P rs754980119 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_004320 p.Arg157Gln LP/P rs121434295 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_004321 p.Thr227Met LP/P rs748571395 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_004322 p.Pro251Leu LP/P - Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_004323 p.Arg325Cys LP/P rs371085894 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_004324 p.Arg335Cys LP/P rs748289202 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_004325 p.Arg357Cys LP/P rs779993607 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_009528 p.Ala222Val LB/B rs1801133 - MTHFR P42898 VAR_009530 p.Arg51Pro LP/P rs201618781 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_009531 p.Leu323Pro LP/P rs121434297 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_009532 p.Asn324Ser LP/P rs267606887 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_009533 p.Trp339Gly LP/P rs267606886 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_009534 p.Arg377Cys LP/P rs121434296 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_009535 p.Gly387Asp LP/P rs1430872491 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_009536 p.Pro572Leu LP/P rs144508139 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_009537 p.Glu586Lys LP/P rs983672500 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_014881 p.Arg68Gln LB/B rs2066472 - MTHFR P42898 VAR_014882 p.Glu429Ala LB/B rs1801131 - MTHFR P42898 VAR_018857 p.Gly422Arg LB/B rs45571736 - MTHFR P42898 VAR_018858 p.Arg519Cys LB/B rs45496998 - MTHFR P42898 VAR_018859 p.Arg594Gln LB/B rs2274976 - MTHFR P42898 VAR_018860 p.Thr653Met LB/B rs35737219 - MTHFR P42898 VAR_050293 p.Arg519His LB/B rs45449298 - MTHFR P42898 VAR_050294 p.Gly566Glu LB/B rs2274974 - MTHFR P42898 VAR_054158 p.Glu470Ala LB/B - - MTHFR P42898 VAR_074111 p.Arg46Gln LP/P rs776483190 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074112 p.Arg46Trp LP/P rs138189536 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074113 p.Trp59Ser LP/P rs786204007 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074114 p.Arg68Gly LP/P rs763539350 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074115 p.Arg82Trp LP/P rs786204009 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074116 p.Ala113Thr LP/P rs147257424 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074117 p.His127Tyr LP/P rs769381688 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074118 p.Thr129Asn LP/P - Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074119 p.Cys130Arg LP/P rs786204012 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074120 p.Gln147Pro LP/P rs786204013 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074121 p.Gly149Val LP/P - Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074122 p.Ile153Met LP/P rs767890671 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074123 p.Ala175Thr LP/P rs1182635980 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074124 p.Arg183Gln LP/P rs574132670 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074125 p.Ala195Val LP/P rs760161369 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074126 p.Gly196Asp LP/P rs786204014 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074128 p.Val218Leu LP/P - Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074129 p.Ile225Leu LP/P rs200100285 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074131 p.Val253Phe LP/P - Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074132 p.Pro254Ser LP/P rs786204017 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074133 p.Gly255Val LP/P rs786204018 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074134 p.Ile256Asn LP/P rs373398993 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074135 p.Phe257Val LP/P rs786204019 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074136 p.Arg335His LP/P rs543016186 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074137 p.Met338Thr LP/P rs368321176 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074138 p.Pro348Ser LP/P rs786204021 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074139 p.His354Tyr LP/P rs786204022 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074140 p.Arg363His LP/P rs786204023 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074141 p.Lys372Glu LP/P rs786204024 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074142 p.Arg377His LP/P rs750323424 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074143 p.Trp421Ser LP/P rs200137991 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074144 p.Phe435Ser LP/P rs754015864 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074145 p.Tyr506Asp LP/P rs786204026 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074146 p.Val536Phe LP/P rs786204028 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074147 p.Val574Gly LP/P - Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074148 p.Val575Gly LP/P rs786204031 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074149 p.Leu598Pro LP/P rs786204034 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFR P42898 VAR_074150 p.Leu628Pro LP/P rs786204037 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250] MTHFS P49914 VAR_034115 p.Thr202Ala LB/B rs8923 - MTHFS P49914 VAR_082088 p.Leu36Pro LP/P rs1349638340 Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (NEDMEHM) [MIM:618367] MTHFS P49914 VAR_082089 p.Arg145Gln LP/P rs753635972 Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (NEDMEHM) [MIM:618367] MTHFSD Q2M296 VAR_033373 p.Leu45Val LB/B rs34005514 - MTHFSD Q2M296 VAR_033374 p.Ser296Cys LB/B rs3751802 - MTHFSD Q2M296 VAR_033375 p.Gly315Arg LB/B rs3751803 - MTHFSD Q2M296 VAR_068902 p.Arg243Cys LB/B rs3751800 - MTHFSD Q2M296 VAR_068903 p.Ala244Thr LB/B rs3751801 - MTIF2 P46199 VAR_014883 p.Val556Ile LB/B rs11357 - MTIF2 P46199 VAR_054428 p.Thr59Asn LB/B rs1056445 - MTIF3 Q9H2K0 VAR_031045 p.Thr68Ile LB/B rs17857314 - MTIF3 Q9H2K0 VAR_031046 p.Phe243Leu LB/B rs1218825 - MTM1 Q13496 VAR_006387 p.Arg69Cys LP/P rs132630304 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006388 p.Leu70Phe LP/P rs587783809 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006389 p.Leu87Pro LP/P rs587783816 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006390 p.Arg184Gly LP/P rs587783835 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006391 p.Asn189Ser LP/P rs132630302 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006392 p.Tyr198Asn LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006393 p.Pro205Leu LP/P rs587783841 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006394 p.Ser229Pro LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006395 p.Arg241Cys LP/P rs132630305 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006396 p.Arg241Leu LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006397 p.Met317Arg LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006398 p.Ser376Asn LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006399 p.Gly378Arg LP/P rs587783755 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006400 p.Tyr397Cys LP/P rs132630303 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006401 p.Gly402Ala LP/P rs587783762 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006402 p.Glu404Lys LP/P rs781933660 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006403 p.Leu406Pro LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006404 p.Arg421Gln LP/P rs587783772 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006406 p.Asp431Asn LP/P rs886044782 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006407 p.Asp433Asn LP/P rs886044783 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006408 p.His469Pro LP/P rs587783789 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006409 p.Trp499Arg LP/P rs587783801 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_009217 p.Pro179Ser LP/P rs587783832 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_009218 p.Ile225Thr LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_009219 p.Ile264Ser LP/P rs587783856 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_009222 p.Lys510Asn LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018227 p.Val49Phe LP/P rs587783796 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018228 p.Tyr68Asp LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018229 p.Arg69Pro LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018230 p.Arg69Ser LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018231 p.Glu157Lys LP/P rs132630307 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018232 p.Asn180Lys LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018233 p.Arg184Leu LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018234 p.Thr186Ile LP/P rs587783836 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018235 p.Thr197Ile LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018236 p.Pro199Ser LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018237 p.Leu202Ser LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018238 p.Pro226Thr LP/P rs587783848 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018239 p.Val227Met LP/P rs587783850 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018240 p.Leu228Pro LP/P rs587783851 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018241 p.Trp230Cys LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018242 p.His232Arg LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018243 p.Ala279Gly LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018244 p.Trp346Cys LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018245 p.Trp346Ser LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018246 p.Val364Gly LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018247 p.His374Asp LP/P rs587783754 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018248 p.Gly378Glu LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018249 p.Ala389Asp LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018250 p.Leu391Pro LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018251 p.Gly402Arg LP/P rs1569565525 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018252 p.Gly402Val LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018253 p.Trp411Cys LP/P rs587783764 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018254 p.Cys444Tyr LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018255 p.Leu470Pro LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018256 p.Asn481Tyr LP/P - Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_068846 p.Ser387Tyr LP/P rs587783759 Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] MTMR10 Q9NXD2 VAR_047539 p.Arg648His LB/B rs6493352 - MTMR11 A4FU01 VAR_043598 p.Met159Val LB/B rs11205303 - MTMR11 A4FU01 VAR_043599 p.Gln531Pro LB/B rs16836857 - MTMR14 Q8NCE2 VAR_033370 p.Arg336Gln LP/P rs121434509 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] MTMR14 Q8NCE2 VAR_033371 p.Tyr462Cys LP/P rs121434510 Myopathy, centronuclear, 1 (CNM1) [MIM:160150] MTMR2 Q13614 VAR_047255 p.Lys3Thr LB/B rs3824874 - MTMR2 Q13614 VAR_047256 p.Asn545Ser LB/B rs558018 - MTMR2 Q13614 VAR_047947 p.Arg283Trp LP/P rs1590983932 Charcot-Marie-Tooth disease 4B1 (CMT4B1) [MIM:601382] MTMR3 Q13615 VAR_035656 p.Val221Leu US - A breast cancer sample MTMR4 Q9NYA4 VAR_035110 p.Leu170Val LB/B rs3744108 - MTMR4 Q9NYA4 VAR_035111 p.Ser280Gly LB/B rs2302190 - MTMR4 Q9NYA4 VAR_035112 p.Val297Gly LB/B rs2302189 - MTMR6 Q9Y217 VAR_024583 p.Ile319Val LB/B rs7995033 - MTMR6 Q9Y217 VAR_057143 p.Ala131Thr LB/B rs34885345 - MTMR7 Q9Y216 VAR_057144 p.Gln559His LB/B rs3764796 - MTMR7 Q9Y216 VAR_059779 p.Pro44Ala LB/B rs7388581 - MTMR8 Q96EF0 VAR_042688 p.Trp127Arg US rs1406282063 A breast cancer sample MTMR8 Q96EF0 VAR_042689 p.Glu454Lys US - A breast cancer sample MTMR9 Q96QG7 VAR_082147 p.Asn472Ile US - - MTNAP1 Q9BSJ5 VAR_031779 p.Gly226Ser LB/B rs9902726 - MTNAP1 Q9BSJ5 VAR_031780 p.Lys322Gln LB/B rs34784472 - MTNAP1 Q9BSJ5 VAR_031781 p.Phe356Leu LB/B rs745143 - MTNAP1 Q9BSJ5 VAR_031782 p.His395Asn LB/B rs904384 - MTNAP1 Q9BSJ5 VAR_031783 p.Cys396Arg LB/B rs904383 - MTNAP1 Q9BSJ5 VAR_031784 p.Gln420His LB/B rs745142 - MTNAP1 Q9BSJ5 VAR_031785 p.Ala522Thr LB/B rs1566286 - MTNR1A P48039 VAR_009260 p.Arg54Trp LB/B rs1800885 - MTNR1A P48039 VAR_009261 p.Ala157Val LB/B rs1800884 - MTNR1A P48039 VAR_049420 p.Ile212Thr LB/B rs7654853 - MTNR1B P49286 VAR_009262 p.Gly24Glu LB/B rs8192552 - MTNR1B P49286 VAR_009263 p.Leu66Phe LB/B rs370338802 - MTNR1B P49286 VAR_049421 p.Arg231His LB/B rs8192553 - MTO1 Q9Y2Z2 VAR_068693 p.Ala453Thr LP/P rs143747297 Combined oxidative phosphorylation deficiency 10 (COXPD10) [MIM:614702] MTOR P42345 VAR_041537 p.Ala8Ser US - A lung large cell carcinoma sample MTOR P42345 VAR_041538 p.Met135Thr US - A metastatic melanoma sample MTOR P42345 VAR_041539 p.Met1083Val LB/B rs56164650 - MTOR P42345 VAR_041540 p.Ala1134Val LB/B rs28730685 - MTOR P42345 VAR_041541 p.Ser1178Phe LB/B rs55975118 - MTOR P42345 VAR_041542 p.Met2011Val US - An ovarian mucinous carcinoma sample MTOR P42345 VAR_041543 p.Ser2215Tyr LP/P rs587777894 Focal cortical dysplasia 2 (FCORD2) [MIM:607341] MTOR P42345 VAR_041544 p.Pro2476Leu US - A glioblastoma multiforme sample MTOR P42345 VAR_064733 p.Leu2220Phe US - - MTOR P42345 VAR_064734 p.Val2406Ala US - - MTOR P42345 VAR_075072 p.Glu1799Lys LP/P rs863225264 Smith-Kingsmore syndrome (SKS) [MIM:616638] MTOR P42345 VAR_078824 p.Arg624His US rs913197212 Focal cortical dysplasia 2 (FCORD2) [MIM:607341] MTOR P42345 VAR_078825 p.Asp1376Glu US rs975577894 - MTOR P42345 VAR_078826 p.Tyr1450Asp LP/P - Focal cortical dysplasia 2 (FCORD2) [MIM:607341] MTOR P42345 VAR_078827 p.Trp1456Gly LP/P rs1085307114 Focal cortical dysplasia 2 (FCORD2) [MIM:607341] MTOR P42345 VAR_078828 p.Ala1459Asp LP/P - Focal cortical dysplasia 2 (FCORD2) [MIM:607341] MTOR P42345 VAR_078829 p.Ala1459Ser LP/P - Focal cortical dysplasia 2 (FCORD2) [MIM:607341] MTOR P42345 VAR_078830 p.Leu1460Pro LP/P rs1057519779 Focal cortical dysplasia 2 (FCORD2) [MIM:607341] MTOR P42345 VAR_078831 p.Cys1483Arg LP/P rs1057519914 Focal cortical dysplasia 2 (FCORD2) [MIM:607341] MTOR P42345 VAR_078832 p.Trp1490Arg LP/P - Smith-Kingsmore syndrome (SKS) [MIM:616638] MTOR P42345 VAR_078833 p.Met1595Ile LP/P rs869312671 Smith-Kingsmore syndrome (SKS) [MIM:616638] MTOR P42345 VAR_078834 p.Arg1709His US rs587777895 Focal cortical dysplasia 2 (FCORD2) [MIM:607341] MTOR P42345 VAR_078835 p.Ala1832Thr LP/P rs369088781 Smith-Kingsmore syndrome (SKS) [MIM:616638] MTOR P42345 VAR_078836 p.Phe1888Cys LP/P rs869312666 Smith-Kingsmore syndrome (SKS) [MIM:616638] MTOR P42345 VAR_078837 p.Thr1977Lys LP/P rs587777893 Focal cortical dysplasia 2 (FCORD2) [MIM:607341] MTOR P42345 VAR_078838 p.Arg2193Cys LP/P rs1642723200 Focal cortical dysplasia 2 (FCORD2) [MIM:607341] MTOR P42345 VAR_078839 p.Ser2215Phe LP/P rs587777894 Focal cortical dysplasia 2 (FCORD2) [MIM:607341] MTOR P42345 VAR_078840 p.Met2327Ile LP/P rs878855328 Smith-Kingsmore syndrome (SKS) [MIM:616638] MTOR P42345 VAR_078841 p.Leu2427Pro LP/P rs1085307113 Focal cortical dysplasia 2 (FCORD2) [MIM:607341] MTOR P42345 VAR_078842 p.Leu2427Gln LP/P rs1085307113 Focal cortical dysplasia 2 (FCORD2) [MIM:607341] MTOR P42345 VAR_078843 p.Ile2501Val US rs968817513 - MTPAP Q9NVV4 VAR_027601 p.Arg162Cys LB/B rs1047991 - MTPAP Q9NVV4 VAR_027602 p.Tyr221His LB/B rs17855118 - MTPAP Q9NVV4 VAR_027603 p.Cys419Arg LB/B rs17857517 - MTPAP Q9NVV4 VAR_027604 p.Ser546Asn LB/B rs17855116 - MTPAP Q9NVV4 VAR_064907 p.Asn478Asp LP/P rs267606900 Spastic ataxia 4, autosomal recessive (SPAX4) [MIM:613672] MTR Q99707 VAR_004326 p.Arg61Lys LB/B - - MTR Q99707 VAR_004327 p.Cys255Tyr LB/B rs1140598 - MTR Q99707 VAR_004329 p.Asp919Gly LB/B rs1805087 - MTR Q99707 VAR_004330 p.His920Asp LP/P rs121913579 Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG) [MIM:250940] MTR Q99707 VAR_004331 p.Pro1173Leu LP/P rs121913578 Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG) [MIM:250940] MTR Q99707 VAR_050033 p.Arg52Gln LB/B rs12749581 - MTR Q99707 VAR_061338 p.Asp314Asn LB/B rs2229274 - MTREX P42285 VAR_049343 p.Ala346Pro LB/B rs35643285 - MTRF1 O75570 VAR_024603 p.Asn2Ser LB/B rs9532758 - MTRF1 O75570 VAR_034447 p.Leu324Val LB/B rs9566725 - MTRF1 O75570 VAR_051789 p.Ile407Val LB/B rs9315812 - MTRF1L Q9UGC7 VAR_042725 p.Thr38Ala LB/B rs3818125 - MTRF1L Q9UGC7 VAR_042726 p.Arg76Gln LB/B rs3818123 - MTRF1L Q9UGC7 VAR_042727 p.Leu177Phe LB/B rs12660881 - MTRF1L Q9UGC7 VAR_042728 p.Val214Ile LB/B rs3192723 - MTRFR Q9H3J6 VAR_037325 p.Ala134Thr LB/B rs1045496 - MTRNR2L5 P0CJ72 VAR_064548 p.Thr13Ile LB/B rs11004928 - MTRR Q9UBK8 VAR_012836 p.Ile22Met LB/B rs1801394 - MTRR Q9UBK8 VAR_012838 p.Val56Met LP/P rs761061866 Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270] MTRR Q9UBK8 VAR_012839 p.Ala129Thr LP/P - Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270] MTRR Q9UBK8 VAR_012840 p.Leu333Val LB/B rs10064631 - MTRR Q9UBK8 VAR_012841 p.Cys405Arg LP/P - Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270] MTRR Q9UBK8 VAR_012842 p.Gly487Arg LP/P rs137853061 Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270] MTRR Q9UBK8 VAR_014944 p.His595Tyr LB/B rs10380 - MTRR Q9UBK8 VAR_015731 p.Gly554Arg LP/P - Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270] MTRR Q9UBK8 VAR_034595 p.Ser175Leu LB/B rs1532268 - MTRR Q9UBK8 VAR_034596 p.Ser257Thr LB/B rs2303080 - MTRR Q9UBK8 VAR_034597 p.Lys350Arg LB/B rs162036 - MTRR Q9UBK8 VAR_034598 p.Arg415Cys LB/B rs2287780 - MTRR Q9UBK8 VAR_034599 p.Pro450Arg LB/B rs16879334 - MTRR Q9UBK8 VAR_056947 p.Ala515Val LB/B rs16879355 - MTSS1 O43312 VAR_054010 p.Asn305Ile LB/B rs2303956 - MTSS1 O43312 VAR_054011 p.Thr725Ala LB/B rs3829037 - MTSS2 Q765P7 VAR_087784 p.Arg671Trp LP/P rs753688777 Intellectual developmental disorder with ocular anomalies and distinctive facial features (IDDOF) [MIM:620086] MTTP P55157 VAR_010640 p.His297Gln LB/B rs2306985 - MTTP P55157 VAR_010641 p.Asp384Ala LB/B rs17029215 - MTTP P55157 VAR_010642 p.Arg540His LP/P rs199422220 Abetalipoproteinemia (ABL) [MIM:200100] MTTP P55157 VAR_010643 p.Ser590Ile LP/P rs199422222 Abetalipoproteinemia (ABL) [MIM:200100] MTTP P55157 VAR_010644 p.Gly746Glu LP/P rs767833468 Abetalipoproteinemia (ABL) [MIM:200100] MTTP P55157 VAR_014016 p.Gln95His LB/B rs61733139 - MTTP P55157 VAR_014017 p.Ile128Thr LB/B rs3816873 - MTTP P55157 VAR_014018 p.Gln244Glu LB/B rs17599091 - MTTP P55157 VAR_014019 p.Asn780Tyr LP/P rs199422221 Abetalipoproteinemia (ABL) [MIM:200100] MTTP P55157 VAR_022658 p.Val168Ile LB/B rs61750974 - MTTP P55157 VAR_052961 p.Glu98Asp LB/B rs2306986 - MTTP P55157 VAR_052962 p.Asn166Ser LB/B rs3792683 - MTTP P55157 VAR_074553 p.Asp169Val LP/P - Abetalipoproteinemia (ABL) [MIM:200100] MTTP P55157 VAR_074554 p.Gly264Arg US rs1367079155 Abetalipoproteinemia (ABL) [MIM:200100] MTTP P55157 VAR_074555 p.Leu435His LP/P - Abetalipoproteinemia (ABL) [MIM:200100] MTTP P55157 VAR_074556 p.Tyr528His LP/P rs1485375137 Abetalipoproteinemia (ABL) [MIM:200100] MTTP P55157 VAR_074557 p.Arg540Cys LP/P rs372321643 Abetalipoproteinemia (ABL) [MIM:200100] MTTP P55157 VAR_074558 p.Asn649Ser US - Abetalipoproteinemia (ABL) [MIM:200100] MTUS1 Q9ULD2 VAR_035173 p.Gln75Lys LP/P rs61733703 Hepatocellular carcinoma (HCC) [MIM:114550] MTUS1 Q9ULD2 VAR_035174 p.Cys148Arg LB/B rs3739407 - MTUS1 Q9ULD2 VAR_035175 p.Thr186Ser LB/B rs141609607 - MTUS1 Q9ULD2 VAR_035176 p.Thr425Met LB/B rs61733694 - MTUS1 Q9ULD2 VAR_035177 p.Lys453Thr LB/B rs17690844 - MTUS1 Q9ULD2 VAR_035178 p.Ala563Ser LP/P - Hepatocellular carcinoma (HCC) [MIM:114550] MTUS1 Q9ULD2 VAR_035179 p.His575Arg LB/B rs209569 - MTUS1 Q9ULD2 VAR_035180 p.Asn873His LP/P rs187103704 Hepatocellular carcinoma (HCC) [MIM:114550] MTUS1 Q9ULD2 VAR_035181 p.Lys911Thr LB/B rs61748836 - MTUS1 Q9ULD2 VAR_035182 p.Lys1063Thr LB/B rs17853231 - MTUS1 Q9ULD2 VAR_035183 p.Glu1105Gln LB/B rs61733705 - MTUS1 Q9ULD2 VAR_035184 p.Gln1201Arg LP/P rs567116808 Hepatocellular carcinoma (HCC) [MIM:114550] MTUS2 Q5JR59 VAR_055941 p.Pro955His LB/B rs12874207 - MTUS2 Q5JR59 VAR_058831 p.Leu1071Gln LB/B rs17073511 - MTX1 Q13505 VAR_047376 p.Ser63Thr LB/B rs760077 - MTX3 Q5HYI7 VAR_043600 p.Ser238Arg LB/B rs9293796 - MUC1 P15941 VAR_019390 p.Val1117Met LB/B rs1611770 - MUC1 P15941 VAR_019391 p.Ser1142Asn LB/B rs11465207 - MUC12 Q9UKN1 VAR_042906 p.Thr4775Arg LB/B rs11766125 - MUC13 Q9H3R2 VAR_056589 p.Ala18Val LB/B rs4679394 - MUC13 Q9H3R2 VAR_056590 p.Ser364Gly LB/B rs16836185 - MUC13 Q9H3R2 VAR_056591 p.Arg503Ser LB/B rs1127233 - MUC13 Q9H3R2 VAR_063124 p.Ile100Thr LB/B rs4679392 - MUC15 Q8N387 VAR_019376 p.Ile184Thr LB/B rs2292290 - MUC15 Q8N387 VAR_019377 p.Thr202Ile LB/B rs15783 - MUC15 Q8N387 VAR_050452 p.Ser19Trp LB/B rs293979 - MUC16 Q8WXI7 VAR_056592 p.Thr545Ala LB/B rs17000957 - MUC16 Q8WXI7 VAR_056593 p.Arg1015Gly LB/B rs17000950 - MUC16 Q8WXI7 VAR_056594 p.Ser1032Thr LB/B rs10411228 - MUC16 Q8WXI7 VAR_056595 p.Pro1041Ser LB/B rs10406202 - MUC16 Q8WXI7 VAR_056596 p.Thr1162Ile LB/B rs17000947 - MUC16 Q8WXI7 VAR_056597 p.Lys1266Asn LB/B rs1596797 - MUC16 Q8WXI7 VAR_056598 p.His1353Tyr LB/B rs12611293 - MUC16 Q8WXI7 VAR_056599 p.Lys1400Asn LB/B rs1596798 - MUC16 Q8WXI7 VAR_056600 p.Leu1833Phe LB/B rs4520945 - MUC16 Q8WXI7 VAR_056601 p.Ser1953Pro LB/B rs1108380 - MUC16 Q8WXI7 VAR_056602 p.Ser2058Pro LB/B rs1574479 - MUC16 Q8WXI7 VAR_056603 p.Ile2150Val LB/B rs10407633 - MUC16 Q8WXI7 VAR_056604 p.Thr2271Ala LB/B rs11085805 - MUC16 Q8WXI7 VAR_056605 p.Val2288Leu LB/B rs10410933 - MUC16 Q8WXI7 VAR_056606 p.Asp2356Glu LB/B rs10416013 - MUC16 Q8WXI7 VAR_056607 p.Ala2747Thr LB/B rs10402538 - MUC16 Q8WXI7 VAR_056608 p.Met2786Ile LB/B rs17000886 - MUC16 Q8WXI7 VAR_056609 p.Thr2834Met LB/B rs10407623 - MUC16 Q8WXI7 VAR_056610 p.Arg3573His LB/B rs2591594 - MUC16 Q8WXI7 VAR_056611 p.His5741Asp LB/B rs1559172 - MUC16 Q8WXI7 VAR_056612 p.Ala5754Thr LB/B rs1559171 - MUC16 Q8WXI7 VAR_056613 p.Phe5852Val LB/B rs1862460 - MUC16 Q8WXI7 VAR_056614 p.Thr7063Ala LB/B rs17000770 - MUC16 Q8WXI7 VAR_056615 p.Ile7272Val LB/B rs1867691 - MUC16 Q8WXI7 VAR_056616 p.Thr10507Asn LB/B rs11670461 - MUC17 Q685J3 VAR_040047 p.Lys227Gln LB/B rs10229731 - MUC17 Q685J3 VAR_040048 p.Gly272Glu LB/B rs10259584 - MUC17 Q685J3 VAR_040049 p.Arg942Ser LB/B rs10238201 - MUC17 Q685J3 VAR_040050 p.Thr982Met LB/B rs4729646 - MUC17 Q685J3 VAR_040051 p.Ile1130Thr LB/B rs4729647 - MUC17 Q685J3 VAR_040052 p.Ser1242Thr LB/B rs10265276 - MUC17 Q685J3 VAR_040053 p.Thr1246Asn LB/B rs4729652 - MUC17 Q685J3 VAR_040054 p.Thr1246Ser LB/B rs4729651 - MUC17 Q685J3 VAR_040055 p.Pro1249Ala LB/B rs4729653 - MUC17 Q685J3 VAR_040056 p.Leu1348Pro LB/B rs4269454 - MUC17 Q685J3 VAR_040057 p.Cys1375Arg LB/B rs4367469 - MUC17 Q685J3 VAR_040058 p.Asp4334Asn LB/B rs6946812 - MUC17 Q685J3 VAR_040059 p.Arg4482Gln LB/B rs9656065 - MUC17 Q685J3 VAR_061489 p.Ala427Thr LB/B rs56103274 - MUC17 Q685J3 VAR_061490 p.Pro571Leu LB/B rs34834039 - MUC17 Q685J3 VAR_061491 p.Pro925Arg LB/B rs149445753 - MUC17 Q685J3 VAR_061492 p.Val1480Ala LB/B rs7780935 - MUC17 Q685J3 VAR_061493 p.Ala2096Thr LB/B rs28593004 - MUC17 Q685J3 VAR_061494 p.Arg2159Gly LB/B rs28555173 - MUC17 Q685J3 VAR_061495 p.Ser3299Asn LB/B rs35988443 - MUC19 Q7Z5P9 VAR_056617 p.Gly717Glu LB/B rs7955308 - MUC19 Q7Z5P9 VAR_056618 p.Thr783Lys LB/B rs11564170 - MUC19 Q7Z5P9 VAR_056619 p.Val790Ile LB/B rs7958987 - MUC19 Q7Z5P9 VAR_056620 p.Arg791Leu LB/B rs17467284 - MUC19 Q7Z5P9 VAR_056621 p.Asp803His LB/B rs11564245 - MUC19 Q7Z5P9 VAR_056622 p.Val843Ile LB/B rs10506156 - MUC19 Q7Z5P9 VAR_056623 p.Val869Ile LB/B rs28365246 - MUC19 Q7Z5P9 VAR_056624 p.Val883Ile LB/B rs11564125 - MUC19 Q7Z5P9 VAR_056625 p.Leu1010Phe LB/B rs12317988 - MUC19 Q7Z5P9 VAR_056626 p.Ile1151Thr LB/B rs11176635 - MUC19 Q7Z5P9 VAR_056627 p.Ser1226Phe LB/B rs4768261 - MUC19 Q7Z5P9 VAR_056628 p.Ile1278Met LB/B rs7966110 - MUC19 Q7Z5P9 VAR_056629 p.Gly1296Ser LB/B rs4768264 - MUC19 Q7Z5P9 VAR_056630 p.Arg1315His LB/B rs7312154 - MUC19 Q7Z5P9 VAR_056631 p.Gly1327Trp LB/B rs12369002 - MUC19 Q7Z5P9 VAR_056632 p.Ala1367Thr LB/B rs11564141 - MUC19 Q7Z5P9 VAR_056633 p.Cys1411Tyr LB/B rs11564109 - MUC19 Q7Z5P9 VAR_056634 p.Ala1451Thr LB/B rs11176666 - MUC19 Q7Z5P9 VAR_056635 p.Ala1493Val LB/B rs10784621 - MUC19 Q7Z5P9 VAR_056636 p.Asn1621Ser LB/B rs17128169 - MUC19 Q7Z5P9 VAR_056637 p.Thr1688Ala LB/B rs17128233 - MUC19 Q7Z5P9 VAR_056638 p.Glu1762Ala LB/B rs2933353 - MUC19 Q7Z5P9 VAR_056639 p.Ser1770Arg LB/B rs7956459 - MUC19 Q7Z5P9 VAR_056640 p.Ala2029Ser LB/B rs1492333 - MUC2 Q02817 VAR_056582 p.Leu58Pro LB/B rs2856111 - MUC2 Q02817 VAR_056583 p.Val116Met LB/B rs11825977 - MUC2 Q02817 VAR_056584 p.Gly832Ser LB/B rs11245936 - MUC2 Q02817 VAR_059531 p.Ser1619Arg LB/B rs11245947 - MUC2 Q02817 VAR_059532 p.Pro1689Leu LB/B rs11245949 - MUC2 Q02817 VAR_059533 p.Ile2243Thr LB/B rs6421972 - MUC2 Q02817 VAR_059534 p.Thr2613Pro LB/B rs7480563 - MUC2 Q02817 VAR_059535 p.Thr2613Ser LB/B rs7480563 - MUC2 Q02817 VAR_059536 p.Gln2742Leu LB/B rs7126405 - MUC2 Q02817 VAR_059537 p.Gln2742Pro LB/B rs7126405 - MUC2 Q02817 VAR_061487 p.Pro1768His LB/B rs34493663 - MUC20 Q8N307 VAR_038536 p.Cys3Ser LB/B rs7627924 - MUC20 Q8N307 VAR_038537 p.Val18Gly LB/B rs1811139 - MUC20 Q8N307 VAR_038538 p.Thr442Ile LB/B rs2550232 - MUC20 Q8N307 VAR_038539 p.Pro590Leu LB/B rs3828408 - MUC20 Q8N307 VAR_038540 p.Arg666Trp LB/B rs11923495 - MUC20 Q8N307 VAR_038541 p.Ser671Cys LB/B rs3762739 - MUC20 Q8N307 VAR_056641 p.Gly514Arg LB/B rs3828410 - MUC21 Q5SSG8 VAR_043995 p.Asp139Glu LB/B rs9262324 - MUC21 Q5SSG8 VAR_043996 p.Glu161Gly LB/B rs9262337 - MUC21 Q5SSG8 VAR_043997 p.Glu244Asp LB/B rs113760893 - MUC21 Q5SSG8 VAR_043998 p.Gly253Ser LB/B rs11756238 - MUC21 Q5SSG8 VAR_043999 p.Val285Ala LB/B rs9262370 - MUC21 Q5SSG8 VAR_044000 p.Glu289Asp LB/B rs41288665 - MUC21 Q5SSG8 VAR_044001 p.Asn313Ser LB/B rs9262379 - MUC21 Q5SSG8 VAR_044002 p.Ala315Val LB/B rs41288675 - MUC21 Q5SSG8 VAR_044003 p.Asp319Glu LB/B rs9262380 - MUC21 Q5SSG8 VAR_044004 p.Thr323Pro LB/B rs41288679 - MUC21 Q5SSG8 VAR_044005 p.Ser328Asn LB/B rs41288681 - MUC21 Q5SSG8 VAR_060457 p.Val98Ala LB/B rs1634730 - MUC21 Q5SSG8 VAR_060458 p.Ile282Thr LB/B rs9262368 - MUC21 Q5SSG8 VAR_060459 p.Ile282Val LB/B rs9262367 - MUC22 E2RYF6 VAR_065357 p.Asn1712Asp LB/B rs4248153 - MUC3A Q02505 VAR_030722 p.Val3120Ala LB/B rs6960868 - MUC3A Q02505 VAR_030723 p.Tyr3299Asn LB/B rs10258821 - MUC3A Q02505 VAR_030724 p.Tyr3299His LB/B rs10258821 - MUC3B Q9H195 VAR_029507 p.Ala13274Val LB/B - - MUC3B Q9H195 VAR_029508 p.His13453Tyr LB/B - - MUC4 Q99102 VAR_030211 p.Gly37Asp LB/B rs2259292 - MUC4 Q99102 VAR_030212 p.Thr156Ala LB/B rs2293232 - MUC4 Q99102 VAR_030213 p.Ser580Ala LB/B rs2246901 - MUC4 Q99102 VAR_056585 p.Ala716Thr LB/B rs3749331 - MUC4 Q99102 VAR_056586 p.Ala4448Thr LB/B rs2293232 - MUC4 Q99102 VAR_056587 p.Ala4821Ser LB/B rs2246901 - MUC4 Q99102 VAR_065261 p.Ala41Pro LB/B rs3107764 - MUC4 Q99102 VAR_065262 p.Gly4324Asp LB/B rs2259292 - MUC5AC P98088 VAR_036832 p.Pro5521Leu LB/B rs1132436 - MUC5B Q9HC84 VAR_014123 p.Ser5196Thr LB/B rs2672788 - MUC5B Q9HC84 VAR_056588 p.Arg51Trp LB/B rs2075853 - MUC5B Q9HC84 VAR_059538 p.Thr1360Met LB/B rs12363494 - MUC5B Q9HC84 VAR_059539 p.Arg1401His LB/B rs10835639 - MUC5B Q9HC84 VAR_059540 p.Ala2027Thr LB/B rs1554937069 - MUC5B Q9HC84 VAR_059541 p.Thr2559Met LB/B rs60787297 - MUC5B Q9HC84 VAR_063616 p.Glu34Gly LB/B rs2672785 - MUC5B Q9HC84 VAR_063617 p.Gly1805Ser LB/B rs1541314 - MUC5B Q9HC84 VAR_063618 p.Pro1889Leu LB/B rs2943510 - MUC5B Q9HC84 VAR_063619 p.Ala2025Thr LB/B rs34739266 - MUC5B Q9HC84 VAR_063620 p.Met2194Thr LB/B rs2943502 - MUC5B Q9HC84 VAR_063621 p.Leu2238Pro LB/B rs4963031 - MUC5B Q9HC84 VAR_063622 p.Met2425Thr LB/B rs3965632 - MUC5B Q9HC84 VAR_063623 p.Phe3072Ser LB/B rs55813014 - MUC5B Q9HC84 VAR_063624 p.Thr3284Ala LB/B rs2943531 - MUC5B Q9HC84 VAR_063625 p.Arg3468Pro LB/B rs2943529 - MUC5B Q9HC84 VAR_063626 p.Thr3816Met LB/B rs201948297 - MUC5B Q9HC84 VAR_063627 p.Ala4404Gly LB/B rs2943517 - MUC5B Q9HC84 VAR_063628 p.Pro4440Leu LB/B rs2943516 - MUC5B Q9HC84 VAR_063629 p.Thr4706Pro LB/B rs2943512 - MUC5B Q9HC84 VAR_063630 p.Thr4712Met LB/B rs2943511 - MUC5B Q9HC84 VAR_063631 p.Ala4867Thr LB/B rs3021155 - MUC5B Q9HC84 VAR_063632 p.Thr4882Ala LB/B rs3021156 - MUC6 Q6W4X9 VAR_059542 p.Pro1578Ser LB/B rs10736904 - MUC6 Q6W4X9 VAR_061488 p.Pro1794Thr LB/B rs35549382 - MUC7 Q8TAX7 VAR_050451 p.Asn80Lys LB/B rs6826961 - MUCL3 Q3MIW9 VAR_038857 p.Gly337Arg LB/B rs11970154 - MUCL3 Q3MIW9 VAR_038858 p.Glu419Lys LB/B rs3132580 - MUCL3 Q3MIW9 VAR_038859 p.Arg517Gln LB/B rs2240804 - MUS81 Q96NY9 VAR_021990 p.Leu189Phe LB/B rs2298447 - MUS81 Q96NY9 VAR_025340 p.Arg37His LB/B rs13817 - MUS81 Q96NY9 VAR_025341 p.Gln481His LB/B rs765593 - MUS81 Q96NY9 VAR_038521 p.Arg180Pro LB/B rs545500 - MUS81 Q96NY9 VAR_038522 p.Arg350Trp LB/B rs34891773 - MUS81 Q96NY9 VAR_061988 p.Ser115Phe LB/B rs34381357 - MUSK O15146 VAR_021930 p.Met413Ile LB/B rs2274419 - MUSK O15146 VAR_023046 p.Val790Met LP/P rs199476083 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) [MIM:616325] MUSK O15146 VAR_033837 p.Val829Leu LB/B rs578430 - MUSK O15146 VAR_041748 p.Ala27Gly LB/B rs56054734 - MUSK O15146 VAR_041749 p.Thr100Met LB/B rs35142681 - MUSK O15146 VAR_041750 p.Gly107Glu LB/B rs55786136 - MUSK O15146 VAR_041751 p.Ser159Gly LB/B rs35176182 - MUSK O15146 VAR_041752 p.Asn222Ser LB/B rs55826142 - MUSK O15146 VAR_041753 p.Leu629Phe LB/B rs34267283 - MUSK O15146 VAR_041754 p.Val644Ala LB/B rs41279055 - MUSK O15146 VAR_041755 p.Asn664Ser LB/B rs55963442 - MUSK O15146 VAR_041756 p.Pro696Leu LB/B rs56126328 - MUSK O15146 VAR_041757 p.Glu782Asp LB/B rs34614566 - MUSK O15146 VAR_041758 p.Asn819Ser US rs757577755 A lung neuroendocrine carcinoma sample MUSK O15146 VAR_041759 p.Arg858His LB/B rs34115159 - MUSK O15146 VAR_066604 p.Met605Ile LP/P rs766640370 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) [MIM:616325] MUSK O15146 VAR_066605 p.Ala727Val LP/P rs397515450 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) [MIM:616325] MUSK O15146 VAR_072785 p.Asp38Glu LP/P rs775587809 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) [MIM:616325] MUSK O15146 VAR_072786 p.Pro344Arg LP/P rs387906803 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) [MIM:616325] MUSK O15146 VAR_072787 p.Ile575Thr LP/P rs751889864 Fetal akinesia deformation sequence 1 (FADS1) [MIM:208150] MUSK O15146 VAR_072788 p.Met835Val LP/P - Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) [MIM:616325] MUTYH Q9UIF7 VAR_018872 p.Val22Met LB/B rs3219484 - MUTYH Q9UIF7 VAR_018873 p.Tyr176Cys LP/P rs34612342 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_018874 p.Gln335His LB/B rs3219489 - MUTYH Q9UIF7 VAR_018875 p.Gly393Asp LP/P rs36053993 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_018876 p.Gly500Glu LB/B rs3219494 - MUTYH Q9UIF7 VAR_018877 p.Leu526Met LB/B rs3219496 - MUTYH Q9UIF7 VAR_018878 p.Arg531Gln LB/B rs3219497 - MUTYH Q9UIF7 VAR_026045 p.Tyr125His LP/P - Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_026046 p.Trp128Arg LP/P rs730881832 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_026047 p.Arg179His LP/P rs143353451 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_026048 p.Arg238Trp US rs34126013 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_026049 p.Pro402Ser LP/P rs121908382 Gastric cancer (GASC) [MIM:613659] MUTYH Q9UIF7 VAR_026050 p.Gln411Arg US rs121908383 Gastric cancer (GASC) [MIM:613659] MUTYH Q9UIF7 VAR_026051 p.Ser512Phe LB/B rs140118273 - MUTYH Q9UIF7 VAR_048262 p.Ala370Val LB/B rs35352891 - MUTYH Q9UIF7 VAR_064939 p.Arg179Cys LP/P rs747993448 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_064940 p.Arg182Trp LP/P rs750592289 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077640 p.Pro18Leu US rs79777494 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077641 p.Gly25Asp LB/B rs75321043 - MUTYH Q9UIF7 VAR_077642 p.Val72Glu LB/B rs1557487179 - MUTYH Q9UIF7 VAR_077643 p.Trp100Arg US rs1140507 - MUTYH Q9UIF7 VAR_077644 p.Asp102Asn US rs587780746 - MUTYH Q9UIF7 VAR_077646 p.Pro154Leu LP/P rs777184451 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077647 p.Tyr177Ser LP/P - Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077648 p.Arg182Gln LP/P rs533899702 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077649 p.Gly186Glu LP/P rs754155145 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077650 p.Gly213Glu LP/P rs768553551 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077651 p.Ile220Val US rs200872702 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077652 p.Ala224Val LB/B rs11545695 - MUTYH Q9UIF7 VAR_077653 p.Val231Met LB/B rs200165598 - MUTYH Q9UIF7 VAR_077654 p.Asn235Ser LP/P rs1057517765 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077655 p.Arg242Cys LB/B rs200495564 - MUTYH Q9UIF7 VAR_077656 p.Arg242His LP/P rs140342925 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077657 p.Val243Phe LB/B rs587780749 - MUTYH Q9UIF7 VAR_077658 p.Arg244Gly LB/B rs587782885 - MUTYH Q9UIF7 VAR_077659 p.Arg271Trp LP/P rs769237459 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077660 p.Met280Val LP/P rs876659676 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077661 p.Gly283Glu US rs730881833 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077662 p.Cys287Trp US - - MUTYH Q9UIF7 VAR_077663 p.Pro292Leu LP/P rs374950566 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077664 p.Arg306Cys US rs138089183 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077665 p.Ser319Asn LB/B rs587781810 - MUTYH Q9UIF7 VAR_077666 p.Gln335Arg US rs199742231 - MUTYH Q9UIF7 VAR_077667 p.Pro377Thr LP/P - Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077668 p.Leu385Pro LP/P rs1060501335 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077669 p.Pro402Leu LP/P rs529008617 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077670 p.Leu417Met US rs144079536 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077671 p.Arg423Cys US rs150792276 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077672 p.Arg434Pro US - - MUTYH Q9UIF7 VAR_077673 p.Arg434Gln LB/B rs587782120 - MUTYH Q9UIF7 VAR_077674 p.Ala470Asp LP/P rs200844166 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077675 p.Ala470Thr US rs192816572 - MUTYH Q9UIF7 VAR_077676 p.Thr474Met US rs767747402 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077677 p.Ala486Thr LP/P rs587782263 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077678 p.Val490Phe US rs587782228 Familial adenomatous polyposis 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_077679 p.Pro513Leu LB/B rs587778542 - MUTYH Q9UIF7 VAR_077680 p.Arg520His LB/B rs374655042 - MUTYH Q9UIF7 VAR_077681 p.Thr536Ala LB/B rs151196169 - MVB12A Q96EY5 VAR_049018 p.Cys106Tyr LB/B rs34949802 - MVD P53602 VAR_051605 p.Asn278His LB/B rs34519538 - MVD P53602 VAR_075052 p.Pro101Arg US rs200033380 Porokeratosis 7, multiple types (POROK7) [MIM:614714] MVD P53602 VAR_075053 p.Ala128Val US rs776358937 Porokeratosis 7, multiple types (POROK7) [MIM:614714] MVD P53602 VAR_075054 p.Arg161Leu US - Porokeratosis 7, multiple types (POROK7) [MIM:614714] MVD P53602 VAR_075055 p.Arg161Gln LP/P rs144010349 Porokeratosis 7, multiple types (POROK7) [MIM:614714] MVD P53602 VAR_075056 p.Arg228Gln US rs770939767 Porokeratosis 7, multiple types (POROK7) [MIM:614714] MVD P53602 VAR_075057 p.Arg228Trp US rs776684503 Porokeratosis 7, multiple types (POROK7) [MIM:614714] MVD P53602 VAR_075058 p.Phe249Ser LP/P rs761991070 Porokeratosis 7, multiple types (POROK7) [MIM:614714] MVD P53602 VAR_075059 p.Asn292Ser LP/P rs755948940 Porokeratosis 7, multiple types (POROK7) [MIM:614714] MVD P53602 VAR_075061 p.Gly376Arg US rs546127665 Porokeratosis 7, multiple types (POROK7) [MIM:614714] MVK Q03426 VAR_004022 p.His20Pro LP/P rs104895295 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_004022 p.His20Pro LP/P rs104895295 Mevalonic aciduria (MEVA) [MIM:610377] MVK Q03426 VAR_004023 p.Pro167Leu LP/P rs104895300 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_004024 p.Ile268Thr LP/P rs104895304 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_004024 p.Ile268Thr LP/P rs104895304 Mevalonic aciduria (MEVA) [MIM:610377] MVK Q03426 VAR_004025 p.Asn301Thr LP/P rs121917789 Mevalonic aciduria (MEVA) [MIM:610377] MVK Q03426 VAR_004026 p.Ala334Thr LP/P rs104895317 Mevalonic aciduria (MEVA) [MIM:610377] MVK Q03426 VAR_004027 p.Val377Ile LP/P rs28934897 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_009068 p.Val310Met LP/P rs104895319 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_009068 p.Val310Met LP/P rs104895319 Mevalonic aciduria (MEVA) [MIM:610377] MVK Q03426 VAR_010956 p.His20Asn LP/P rs11544299 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_010957 p.Leu39Pro LP/P rs104895296 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_010958 p.Ser52Asn LB/B rs7957619 - MVK Q03426 VAR_010959 p.Ser135Leu LP/P rs104895297 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_010960 p.Ala148Thr LP/P rs104895298 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_010961 p.Ser150Leu LP/P rs747116992 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_010962 p.Gly202Arg LP/P rs104895301 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_010962 p.Gly202Arg LP/P rs104895301 Porokeratosis 3, multiple types (POROK3) [MIM:175900] MVK Q03426 VAR_010963 p.Arg215Gln LP/P rs104895303 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_010964 p.Thr243Ile LP/P rs104895314 Mevalonic aciduria (MEVA) [MIM:610377] MVK Q03426 VAR_010965 p.Leu264Phe LP/P rs104895315 Mevalonic aciduria (MEVA) [MIM:610377] MVK Q03426 VAR_010966 p.Leu265Pro LP/P rs104895316 Mevalonic aciduria (MEVA) [MIM:610377] MVK Q03426 VAR_010967 p.Gly309Ser LP/P rs104895305 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_010968 p.Gly326Arg LP/P rs104895308 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_029519 p.His20Gln LP/P rs104895335 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_029520 p.Val132Ile LP/P rs104895336 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_029521 p.Gly171Arg LP/P rs104895337 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_029522 p.Gly211Glu LP/P rs104895325 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_029523 p.Val250Ile LP/P rs104895339 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_029524 p.Leu265Arg LP/P rs104895316 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_029525 p.Gly335Ser LB/B rs11614976 - MVK Q03426 VAR_029526 p.Thr356Met LB/B rs104895342 - MVK Q03426 VAR_029527 p.Gly376Val LP/P rs104895340 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_075036 p.Gly12Arg LP/P - Porokeratosis 3, multiple types (POROK3) [MIM:175900] MVK Q03426 VAR_075037 p.Leu41Pro LP/P rs397514571 Porokeratosis 3, multiple types (POROK3) [MIM:175900] MVK Q03426 VAR_075038 p.Leu255Pro LP/P rs397514570 Porokeratosis 3, multiple types (POROK3) [MIM:175900] MVK Q03426 VAR_075039 p.Leu279Pro LP/P - Porokeratosis 3, multiple types (POROK3) [MIM:175900] MVK Q03426 VAR_075040 p.Tyr291Asp LP/P - Porokeratosis 3, multiple types (POROK3) [MIM:175900] MVK Q03426 VAR_075041 p.His312Arg LP/P - Porokeratosis 3, multiple types (POROK3) [MIM:175900] MVK Q03426 VAR_075042 p.Phe365Ser LP/P rs398122911 Porokeratosis 3, multiple types (POROK3) [MIM:175900] MVK Q03426 VAR_075043 p.Gly376Ser LP/P rs971159663 Porokeratosis 3, multiple types (POROK3) [MIM:175900] MVP Q14764 VAR_050179 p.Val635Ile LB/B rs35916172 - MVP Q14764 VAR_050180 p.Arg651Gln LB/B rs3764944 - MVP Q14764 VAR_079710 p.Asp87Glu LB/B - - MX1 P20591 VAR_034116 p.Ala381Val LB/B rs34717738 - MX1 P20591 VAR_034117 p.Gln611His LB/B rs2230454 - MX1 P20591 VAR_058010 p.Val379Ile LB/B rs469390 - MXD3 Q9BW11 VAR_049546 p.Gln114His LB/B rs35691394 - MXI1 P50539 VAR_004499 p.Glu152Ala LP/P rs137852603 Prostate cancer (PC) [MIM:176807] MXRA5 Q9NR99 VAR_028821 p.Leu2531Val LB/B rs1726208 - MXRA5 Q9NR99 VAR_056057 p.Val764Leu LB/B rs5983120 - MXRA5 Q9NR99 VAR_056058 p.Thr1484Ala LB/B rs12396910 - MXRA5 Q9NR99 VAR_056059 p.Pro1665Ser LB/B rs1974522 - MXRA5 Q9NR99 VAR_060357 p.Ile824Val LB/B rs5983119 - MXRA5 Q9NR99 VAR_060358 p.Ala1128Val LB/B rs1635246 - MXRA5 Q9NR99 VAR_060359 p.Gly1394Asp LB/B rs1726199 - MXRA5 Q9NR99 VAR_060360 p.Gly2000Ser LB/B rs1635242 - MXRA5 Q9NR99 VAR_072405 p.Ala98Asp US - Lung cancer (LNCR) [MIM:211980] MXRA5 Q9NR99 VAR_072406 p.Pro481His US rs759222135 Lung cancer (LNCR) [MIM:211980] MXRA5 Q9NR99 VAR_072407 p.Trp611Cys US - Lung cancer (LNCR) [MIM:211980] MXRA5 Q9NR99 VAR_072408 p.Ser862Asn LP/P - Lung cancer (LNCR) [MIM:211980] MXRA5 Q9NR99 VAR_072409 p.Val1028Phe US - Lung cancer (LNCR) [MIM:211980] MXRA5 Q9NR99 VAR_072410 p.Pro1491Ala US rs754393038 Lung cancer (LNCR) [MIM:211980] MXRA5 Q9NR99 VAR_072411 p.Arg2300His US rs776590689 Lung cancer (LNCR) [MIM:211980] MXRA5 Q9NR99 VAR_072412 p.Arg2349Trp US rs369042203 Lung cancer (LNCR) [MIM:211980] MXRA5 Q9NR99 VAR_072413 p.His2678Arg US - Lung cancer (LNCR) [MIM:211980] MXRA5 Q9NR99 VAR_072414 p.Glu2716Ala US rs1419255508 Lung cancer (LNCR) [MIM:211980] MXRA5 Q9NR99 VAR_072415 p.Ala2763Gly US - Lung cancer (LNCR) [MIM:211980] MXRA5 Q9NR99 VAR_076257 p.Arg1163His LB/B rs139106444 - MXRA5 Q9NR99 VAR_076258 p.Gly2663Trp LB/B rs143264543 - MXRA5 Q9NR99 VAR_076437 p.Glu2426Asp LB/B rs148675322 - MXRA8 Q9BRK3 VAR_070893 p.Asp396Asn LB/B rs150058708 - MYB P10242 VAR_050188 p.Thr336Ile LB/B rs2229999 - MYB P10242 VAR_050189 p.Thr422Asn LB/B rs2230000 - MYBBP1A Q9BQG0 VAR_023064 p.Gln8Glu LB/B rs3809849 - MYBBP1A Q9BQG0 VAR_051156 p.His680Tyr LB/B rs899440 - MYBBP1A Q9BQG0 VAR_051157 p.His958Pro LB/B rs879797 - MYBBP1A Q9BQG0 VAR_051158 p.Met1208Leu LB/B rs9905742 - MYBL2 P10244 VAR_020422 p.Ser427Gly LB/B rs2070235 - MYBL2 P10244 VAR_050190 p.Asn341Ser LB/B rs6017146 - MYBL2 P10244 VAR_050191 p.Val595Met LB/B rs7660 - MYBL2 P10244 VAR_050192 p.Ile624Met LB/B rs11556379 - MYBPC1 Q00872 VAR_021923 p.His481Gln LB/B rs3817552 - MYBPC1 Q00872 VAR_067045 p.Trp211Arg LP/P rs387906657 Arthrogryposis, distal, 1B (DA1B) [MIM:614335] MYBPC1 Q00872 VAR_067046 p.Tyr849His LP/P rs387906658 Arthrogryposis, distal, 1B (DA1B) [MIM:614335] MYBPC1 Q00872 VAR_075219 p.Glu161Lys LP/P rs1370563966 Arthrogryposis, distal, 1B (DA1B) [MIM:614335] MYBPC1 Q00872 VAR_083207 p.Tyr222His LP/P rs1593846841 Congenital myopathy 16 (CMYP16) [MIM:618524] MYBPC1 Q00872 VAR_083208 p.Glu223Lys LP/P rs564856283 Congenital myopathy 16 (CMYP16) [MIM:618524] MYBPC1 Q00872 VAR_083209 p.Leu234Pro LP/P rs1421405659 Congenital myopathy 16 (CMYP16) [MIM:618524] MYBPC1 Q00872 VAR_083210 p.Leu238Arg LP/P rs1565943228 Congenital myopathy 16 (CMYP16) [MIM:618524] MYBPC2 Q14324 VAR_014657 p.Gly52Ser LB/B rs25669 - MYBPC2 Q14324 VAR_014658 p.Val624Ile LB/B rs25665 - MYBPC2 Q14324 VAR_014659 p.Arg1089His LB/B rs25667 - MYBPC2 Q14324 VAR_056060 p.Asp282Asn LB/B rs35951152 - MYBPC2 Q14324 VAR_056061 p.Gly514Ser LB/B rs8104931 - MYBPC2 Q14324 VAR_061321 p.Glu29Lys LB/B rs57092106 - MYBPC2 Q14324 VAR_061322 p.Val341Ile LB/B rs58511181 - MYBPC3 Q14896 VAR_003917 p.Glu542Gln LP/P rs121909374 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_003918 p.Arg654His US rs1800565 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_003919 p.Asn755Lys LP/P rs1060501474 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019889 p.His257Pro LP/P rs890299857 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019890 p.Glu258Lys LP/P rs397516074 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019891 p.Gly278Glu LP/P rs147315081 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019892 p.Gly279Ala US rs375774648 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019893 p.Arg326Gln LB/B rs34580776 - MYBPC3 Q14896 VAR_019894 p.Leu352Pro LP/P rs1460895809 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019895 p.Arg502Trp LP/P rs375882485 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019897 p.Lys811Arg LP/P rs1338707268 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019898 p.Ala833Val LP/P rs3729952 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019899 p.Val896Met LB/B rs35078470 - MYBPC3 Q14896 VAR_019900 p.Ala1194Thr LP/P rs397516026 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019901 p.Ala1255Thr LP/P rs727503167 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_020085 p.Val158Met LB/B rs3729986 - MYBPC3 Q14896 VAR_020086 p.Ser236Gly LB/B rs3729989 - MYBPC3 Q14896 VAR_020568 p.Val189Ile LB/B rs11570052 - MYBPC3 Q14896 VAR_020569 p.Arg281Gln LB/B rs11570060 - MYBPC3 Q14896 VAR_020570 p.Arg382Trp LB/B rs11570076 - MYBPC3 Q14896 VAR_020571 p.Leu383Val LB/B rs11570077 - MYBPC3 Q14896 VAR_020573 p.Ala522Thr LB/B rs11570082 - MYBPC3 Q14896 VAR_020574 p.Gln998Glu LP/P rs11570112 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_020575 p.Arg1048Cys LB/B rs11570113 - MYBPC3 Q14896 VAR_027879 p.Glu451Gln LP/P rs786204338 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_027880 p.Arg495Gln LP/P rs200411226 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_027881 p.Arg502Gln LP/P rs397515907 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029390 p.Gly5Arg LP/P rs201278114 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029391 p.Thr59Ala LP/P rs121909375 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029392 p.Pro161Ser LP/P rs397516053 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029393 p.Val219Leu LP/P rs397516068 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029394 p.Asp228Asn LP/P rs369300885 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029395 p.Tyr237Ser LP/P rs397516070 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029396 p.Val256Ile LP/P rs1444087775 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029397 p.Arg282Trp LP/P rs727504234 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029398 p.Gly416Ser LB/B rs371513491 - MYBPC3 Q14896 VAR_029399 p.Arg458His LP/P rs374255707 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029400 p.Gly490Arg LP/P rs200625851 Cardiomyopathy, dilated, 1MM (CMD1MM) [MIM:615396] MYBPC3 Q14896 VAR_029400 p.Gly490Arg LP/P rs200625851 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029400 p.Gly490Arg LP/P rs200625851 Left ventricular non-compaction 10 (LVNC10) [MIM:615396] MYBPC3 Q14896 VAR_029401 p.Gly507Arg LP/P rs35736435 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029402 p.Gly523Trp LP/P rs1168604846 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029403 p.Leu545Met LB/B rs377163678 - MYBPC3 Q14896 VAR_029404 p.Cys566Arg LP/P rs730880695 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029405 p.Asp604Val LP/P rs1172145591 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029406 p.Asp605Asn US rs376736293 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029407 p.Pro608Leu LP/P rs778623429 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029408 p.Arg668His LP/P rs727503191 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029409 p.Arg668Pro LP/P rs727503191 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029410 p.Arg733Cys US rs397515956 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029411 p.Asp770Asn LP/P rs36211723 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029412 p.Trp792Arg LP/P rs187830361 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029413 p.Arg810His LP/P rs375675796 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029416 p.Arg820Gln LP/P rs2856655 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029417 p.Ala833Thr LP/P rs199865688 Cardiomyopathy, dilated, 1MM (CMD1MM) [MIM:615396] MYBPC3 Q14896 VAR_029417 p.Ala833Thr LP/P rs199865688 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029418 p.Arg834Thr LP/P - Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029419 p.Arg834Trp US rs752007810 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029420 p.Pro873His LP/P rs371401403 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029421 p.Asn948Thr LP/P rs121909376 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029422 p.Gln998Arg LP/P rs727503177 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029423 p.Arg1002Gln LP/P rs727504235 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029424 p.Arg1002Trp LB/B rs3729799 - MYBPC3 Q14896 VAR_029425 p.Pro1003Gln LP/P - Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029426 p.Phe1113Ile LP/P rs1393559112 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029427 p.Val1115Ile LP/P rs531189495 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029428 p.Ile1131Thr US rs370890951 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_042740 p.Gly263Arg LP/P rs373730381 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_042741 p.Arg273His US rs376461745 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_042742 p.Ala417Ser LP/P - Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_042743 p.Leu669His LP/P - Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_042744 p.Glu759Asp LP/P rs765629179 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_045929 p.Arg495Gly LP/P rs397515905 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_045930 p.Thr1028Ser LP/P rs397516002 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_045931 p.Gly1248Arg US rs202147520 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_070449 p.Arg272Cys US rs397516075 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_070450 p.Ile336Val LP/P - Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_070451 p.Gly490Val LP/P rs397514752 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_070452 p.Pro873Leu LP/P rs371401403 Left ventricular non-compaction 10 (LVNC10) [MIM:615396] MYBPC3 Q14896 VAR_070453 p.Thr957Ser LP/P rs193922380 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_070454 p.Thr958Ile LP/P rs376504548 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_070455 p.Cys1264Phe LP/P rs397514751 Cardiomyopathy, dilated, 1MM (CMD1MM) [MIM:615396] MYBPC3 Q14896 VAR_074538 p.Pro147Leu LB/B rs730880615 - MYBPC3 Q14896 VAR_074539 p.Glu334Lys LP/P rs573916965 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_074540 p.Val342Asp LP/P rs730880709 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_074541 p.Ala627Val LP/P rs1352376969 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_074542 p.Val771Met LP/P rs371488302 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_074544 p.Thr1046Met LP/P rs371061770 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_074545 p.Arg1138His LB/B rs187705120 - MYBPC3 Q14896 VAR_079521 p.Ala562Val LP/P rs730880694 Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPH Q13203 VAR_028181 p.Gln48His LB/B rs2788532 - MYBPH Q13203 VAR_028182 p.Ala49Gly LB/B rs2791721 - MYBPH Q13203 VAR_028183 p.Ala114Gly LB/B rs2642531 - MYBPHL A2RUH7 VAR_042686 p.Asp269Asn LB/B rs629001 - MYC P01106 VAR_016327 p.Asn26Ser LB/B rs4645959 - MYC P01106 VAR_016328 p.Gly175Cys LB/B rs4645960 - MYC P01106 VAR_016329 p.Val185Ile LB/B rs4645961 - MYC P01106 VAR_016330 p.Ala337Val LB/B rs4645968 - MYC P01106 VAR_063384 p.Glu54Asp US rs121918684 A Burkitt lymphoma sample MYC P01106 VAR_063385 p.Pro72Ser US rs28933407 A Burkitt lymphoma sample MYC P01106 VAR_063386 p.Pro74Ala US rs121918685 A Burkitt lymphoma sample MYC P01106 VAR_063387 p.Asn101Thr US rs121918683 A Burkitt lymphoma sample MYCBP2 O75592 VAR_030070 p.Val2626Met LB/B rs9574002 - MYCBP2 O75592 VAR_052086 p.Ala1919Ser LB/B rs35887505 - MYCBPAP Q8TBZ2 VAR_035003 p.Ala424Thr LB/B rs1380657 - MYCBPAP Q8TBZ2 VAR_035004 p.Arg725Trp LB/B rs9890721 - MYCBPAP Q8TBZ2 VAR_035005 p.Ser947Arg LB/B rs1133818 - MYCL P12524 VAR_027802 p.Thr362Ser LB/B rs3134614 - MYCN P04198 VAR_031952 p.Arg393His LP/P rs104893646 Feingold syndrome 1 (FGLDS1) [MIM:164280] MYCN P04198 VAR_031953 p.Arg393Ser LP/P rs104893647 Feingold syndrome 1 (FGLDS1) [MIM:164280] MYCN P04198 VAR_031954 p.Arg394His LP/P rs104893648 Feingold syndrome 1 (FGLDS1) [MIM:164280] MYCT1 Q8N699 VAR_037115 p.Gly119Ser LB/B rs17710008 - MYCT1 Q8N699 VAR_037116 p.Arg127Gly LB/B rs17852097 - MYD88 Q99836 VAR_047953 p.Leu93Pro LP/P rs137853065 Immunodeficiency 68 (IMD68) [MIM:612260] MYD88 Q99836 VAR_047954 p.Arg196Cys LP/P rs137853064 Immunodeficiency 68 (IMD68) [MIM:612260] MYD88 Q99836 VAR_072893 p.Ser34Tyr US rs1319438 - MYD88 Q99836 VAR_072895 p.Arg98Cys US rs199396 - MYD88 Q99836 VAR_072896 p.Met178Ile US rs41285117 - MYD88 Q99836 VAR_073252 p.Val39Met US rs770387646 - MYD88 Q99836 VAR_073253 p.Ser136Gly US - - MYD88 Q99836 VAR_073254 p.Ser136Ile US - - MYD88 Q99836 VAR_073255 p.Val204Phe US rs776995408 - MYD88 Q99836 VAR_073256 p.Trp205Arg US - - MYD88 Q99836 VAR_073257 p.Ser206Cys US - - MYD88 Q99836 VAR_073258 p.Ile207Thr US - - MYD88 Q99836 VAR_073259 p.Ser209Arg US - - MYD88 Q99836 VAR_073260 p.Met219Thr US - - MYD88 Q99836 VAR_073261 p.Ser230Asn US rs1353791431 - MYD88 Q99836 VAR_073262 p.Leu252Pro US rs387907272 Macroglobulinemia, Waldenstrom, 1 (WM1) [MIM:153600] MYD88 Q99836 VAR_073263 p.Thr281Pro US - - MYDGF Q969H8 VAR_060183 p.Gly12Arg LB/B rs2270090 - MYEF2 Q9P2K5 VAR_052209 p.Ala91Thr LB/B rs8023906 - MYEF2 Q9P2K5 VAR_052210 p.Ser465Gly LB/B rs36075490 - MYEF2 Q9P2K5 VAR_061829 p.Gln426Arg LB/B rs2470103 - MYEOV Q96EZ4 VAR_016603 p.Val159Ala LB/B rs7103126 - MYEOV Q96EZ4 VAR_056948 p.Arg198Gln LB/B rs11539762 - MYEOV Q96EZ4 VAR_056949 p.Gly271Arg LB/B rs11228610 - MYEOV Q96EZ4 VAR_056950 p.Pro284Thr LB/B rs12274095 - MYF5 P13349 VAR_081557 p.Arg95Cys LP/P rs1565864693 Ophthalmoplegia, external, with rib and vertebral anomalies (EORVA) [MIM:618155] MYF6 P23409 VAR_004493 p.Ala90Asp LB/B rs138296448 - MYF6 P23409 VAR_004494 p.Ala112Ser US rs28928909 - MYG1 Q9HB07 VAR_059854 p.Ile349Thr LB/B rs1534282 - MYG1 Q9HB07 VAR_083553 p.Arg4Gln LB/B rs1534284 - MYH1 P12882 VAR_030193 p.Arg1341Cys LB/B rs3744564 - MYH1 P12882 VAR_030194 p.Gln1539His LB/B rs3764850 - MYH1 P12882 VAR_030195 p.Arg1716Cys LB/B rs1077841 - MYH1 P12882 VAR_036003 p.Ser1306Leu US rs752643679 A breast cancer sample MYH1 P12882 VAR_036004 p.Ala1445Thr US rs139860229 A breast cancer sample MYH1 P12882 VAR_036005 p.Val1598Met US rs150456818 A breast cancer sample MYH1 P12882 VAR_054159 p.Gly640Ser LB/B rs150346984 - MYH1 P12882 VAR_064735 p.Gln1566Lys US - - MYH10 P35580 VAR_078649 p.Arg270Cys LB/B rs727504231 - MYH11 P35749 VAR_030239 p.Ala1234Thr LB/B rs16967494 - MYH11 P35749 VAR_030240 p.Val1289Ala LB/B rs16967510 - MYH11 P35749 VAR_030241 p.Val1310Met LB/B rs7196804 - MYH11 P35749 VAR_031735 p.Arg1758Gln LP/P rs142546324 Aortic aneurysm, familial thoracic 4 (AAT4) [MIM:132900] MYH11 P35749 VAR_050205 p.Ala1104Thr LB/B rs34263860 - MYH11 P35749 VAR_050206 p.Met1508Val LB/B rs35176378 - MYH11 P35749 VAR_085645 p.Arg677His LP/P - Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MMIHS2) [MIM:619351] MYH11 P35749 VAR_085647 p.Leu1555Val US - Visceral myopathy 2 (VSCM2) [MIM:619350] MYH11 P35749 VAR_085875 p.Ala616Gly LB/B - - MYH13 Q9UKX3 VAR_024543 p.Met1071Val LB/B rs2074877 - MYH13 Q9UKX3 VAR_030231 p.Gly701Arg LB/B rs2190729 - MYH13 Q9UKX3 VAR_030232 p.Asp1076Glu LB/B rs2074876 - MYH13 Q9UKX3 VAR_030233 p.Arg1294Gln LB/B rs17690195 - MYH13 Q9UKX3 VAR_030234 p.His1862Arg LB/B rs3744550 - MYH14 Q7Z406 VAR_022866 p.Ile266Val LB/B rs200424400 - MYH14 Q7Z406 VAR_022867 p.Gly376Cys LP/P rs119103280 Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652] MYH14 Q7Z406 VAR_022868 p.Arg726Ser LP/P rs28940307 Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652] MYH14 Q7Z406 VAR_022869 p.Leu976Phe LP/P rs28940306 Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652] MYH14 Q7Z406 VAR_022870 p.Asn1559Ser LB/B rs769482601 - MYH14 Q7Z406 VAR_037302 p.Ser120Leu LP/P rs119103281 Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652] MYH14 Q7Z406 VAR_056176 p.Pro334Ala LB/B rs34498817 - MYH14 Q7Z406 VAR_056177 p.Ala1209Glu LB/B rs11669191 - MYH14 Q7Z406 VAR_056178 p.Val1540Ile LB/B rs680446 - MYH14 Q7Z406 VAR_066338 p.Arg933Leu LP/P rs113993956 Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) [MIM:614369] MYH14 Q7Z406 VAR_066339 p.Ala1154Val LB/B rs910420638 - MYH15 Q9Y2K3 VAR_030235 p.Arg434Gln LB/B rs4299484 - MYH15 Q9Y2K3 VAR_030236 p.His484Tyr LB/B rs9868484 - MYH15 Q9Y2K3 VAR_030237 p.Thr929Ile LB/B rs12638212 - MYH15 Q9Y2K3 VAR_030238 p.Thr1105Ala LB/B rs3900940 - MYH15 Q9Y2K3 VAR_046376 p.Asp1447Asn LB/B rs1078456 - MYH2 Q9UKX2 VAR_032630 p.Glu706Lys LP/P rs121434589 Congenital myopathy 6 with ophthalmoplegia (CMYP6) [MIM:605637] MYH2 Q9UKX2 VAR_032631 p.Val970Ile US rs143872329 - MYH2 Q9UKX2 VAR_032632 p.Leu1061Val LB/B rs142586585 - MYH2 Q9UKX2 VAR_032633 p.Arg1927Gln LB/B rs34161789 - MYH3 P11055 VAR_030196 p.Arg1137Cys LB/B rs12941197 - MYH3 P11055 VAR_030197 p.Ala1192Thr LB/B rs2285477 - MYH3 P11055 VAR_030370 p.Thr178Ile LP/P rs121913619 Arthrogryposis, distal, 2A (DA2A) [MIM:193700] MYH3 P11055 VAR_030370 p.Thr178Ile LP/P rs121913619 Arthrogryposis, distal, 2B3 (DA2B3) [MIM:618436] MYH3 P11055 VAR_030371 p.Ser261Phe LP/P rs1597490381 Arthrogryposis, distal, 2B3 (DA2B3) [MIM:618436] MYH3 P11055 VAR_030372 p.Ser292Cys US rs139480342 Arthrogryposis, distal, 2B3 (DA2B3) [MIM:618436] MYH3 P11055 VAR_030373 p.Glu375Lys US rs121913621 Arthrogryposis, distal, 2B3 (DA2B3) [MIM:618436] MYH3 P11055 VAR_030374 p.Glu498Gly LP/P - Arthrogryposis, distal, 2A (DA2A) [MIM:193700] MYH3 P11055 VAR_030375 p.Asp517Tyr US rs1597488252 Arthrogryposis, distal, 2B3 (DA2B3) [MIM:618436] MYH3 P11055 VAR_030376 p.Tyr583Ser LP/P rs1597488038 Arthrogryposis, distal, 2A (DA2A) [MIM:193700] MYH3 P11055 VAR_030377 p.Arg672Cys LP/P rs121913618 Arthrogryposis, distal, 2A (DA2A) [MIM:193700] MYH3 P11055 VAR_030378 p.Arg672His LP/P rs121913617 Arthrogryposis, distal, 2A (DA2A) [MIM:193700] MYH3 P11055 VAR_030379 p.Gly769Val LP/P - Arthrogryposis, distal, 2B3 (DA2B3) [MIM:618436] MYH3 P11055 VAR_030380 p.Val825Asp LP/P rs121913620 Arthrogryposis, distal, 2A (DA2A) [MIM:193700] MYH3 P11055 VAR_030381 p.Lys838Glu LP/P - Arthrogryposis, distal, 2B3 (DA2B3) [MIM:618436] MYH3 P11055 VAR_030383 p.Asp1622Ala LB/B rs1446303362 - MYH3 P11055 VAR_030384 p.Ala1637Val LB/B rs34165480 - MYH3 P11055 VAR_056173 p.Ala1003Val LB/B rs34088014 - MYH3 P11055 VAR_056174 p.Thr1313Ile LB/B rs35230241 - MYH3 P11055 VAR_074670 p.Gln1075Pro LP/P rs796051884 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (CPSFS1A) [MIM:178110] MYH3 P11055 VAR_082275 p.Ala234Thr LP/P rs121913623 Arthrogryposis, distal, 2B3 (DA2B3) [MIM:618436] MYH3 P11055 VAR_082276 p.Phe287Val LP/P rs1567560080 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (CPSFS1A) [MIM:178110] MYH3 P11055 VAR_082277 p.Thr333Arg LP/P rs1567559562 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (CPSFS1A) [MIM:178110] MYH3 P11055 VAR_082278 p.Asp462Gly US rs121913622 Arthrogryposis, distal, 2B3 (DA2B3) [MIM:618436] MYH3 P11055 VAR_082279 p.Leu1344Pro US rs1567553806 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (CPSFS1A) [MIM:178110] MYH4 Q9Y623 VAR_022110 p.Thr883Met LB/B rs3744558 - MYH4 Q9Y623 VAR_024542 p.Lys1911Glu LB/B rs3744554 - MYH4 Q9Y623 VAR_030198 p.Ala594Thr LB/B rs12949680 - MYH4 Q9Y623 VAR_030199 p.Ile1106Met LB/B rs917361 - MYH4 Q9Y623 VAR_030200 p.Ala1117Asp LB/B rs16943441 - MYH4 Q9Y623 VAR_030201 p.Glu1209Lys LB/B rs11651295 - MYH4 Q9Y623 VAR_030202 p.Asp1802Gly LB/B rs2277649 - MYH4 Q9Y623 VAR_056175 p.Arg1862Cys LB/B rs34260986 - MYH6 P13533 VAR_030203 p.Glu88Gln LB/B rs442275 - MYH6 P13533 VAR_030204 p.Leu783Met LB/B rs11847151 - MYH6 P13533 VAR_030205 p.Val1101Ala LB/B rs365990 - MYH6 P13533 VAR_030206 p.Thr1737Ser LB/B rs1059854 - MYH6 P13533 VAR_031882 p.Arg795Gln LP/P rs267606907 Cardiomyopathy, familial hypertrophic, 14 (CMH14) [MIM:613251] MYH6 P13533 VAR_031883 p.Ile820Asn LP/P rs267606903 Atrial septal defect 3 (ASD3) [MIM:614089] MYH6 P13533 VAR_061364 p.Gln1593Leu LB/B rs45574136 - MYH6 P13533 VAR_063550 p.Gly56Arg LB/B rs28711516 - MYH6 P13533 VAR_063551 p.Ile275Asn LB/B rs201327273 - MYH6 P13533 VAR_063552 p.Pro830Leu LP/P rs267606906 Cardiomyopathy, dilated, 1EE (CMD1EE) [MIM:613252] MYH6 P13533 VAR_063553 p.Ala1004Ser LP/P rs143978652 Cardiomyopathy, dilated, 1EE (CMD1EE) [MIM:613252] MYH6 P13533 VAR_063554 p.Gln1065His LP/P rs267606904 Cardiomyopathy, familial hypertrophic, 14 (CMH14) [MIM:613251] MYH6 P13533 VAR_063555 p.Ala1130Thr LB/B rs28730771 - MYH6 P13533 VAR_063556 p.Glu1295Gln LB/B rs34935550 - MYH6 P13533 VAR_063557 p.Glu1457Lys LP/P rs267606905 Cardiomyopathy, dilated, 1EE (CMD1EE) [MIM:613252] MYH6 P13533 VAR_063558 p.Arg1502Gln US rs199936506 Cardiomyopathy, dilated, 1EE (CMD1EE) [MIM:613252] MYH6 P13533 VAR_065561 p.Arg721Trp LP/P rs387906656 Sick sinus syndrome 3 (SSS3) [MIM:614090] MYH7 P12883 VAR_004566 p.Ala26Val LP/P rs186964570 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004567 p.Val59Ile LP/P rs771132107 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004568 p.Arg143Gln LP/P rs397516209 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004569 p.Arg249Gln LP/P rs3218713 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004570 p.Gly256Glu LP/P rs121913633 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004571 p.Ile263Thr LP/P rs397516269 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004572 p.Met349Thr LP/P rs121913640 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004573 p.Arg403Leu LP/P rs121913624 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004574 p.Arg403Gln LP/P rs121913624 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004575 p.Arg403Trp LP/P rs3218714 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004576 p.Arg453Cys LP/P rs121913625 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004577 p.Phe513Cys LP/P rs121913636 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004578 p.Gly584Arg LP/P rs121913626 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004579 p.Asp587Val LP/P rs1285747856 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004580 p.Asn602Ser LP/P rs730880880 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004581 p.Val606Met LP/P rs121913627 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004582 p.Lys615Asn LP/P rs1164270609 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004583 p.Gly716Arg LP/P rs121913638 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004584 p.Arg719Trp LP/P rs121913637 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004585 p.Arg723Cys LP/P rs121913630 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004586 p.Pro731Leu LP/P rs1247313340 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004587 p.Ile736Met LP/P - Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004588 p.Gly741Arg LP/P rs121913632 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004589 p.Gly741Trp LP/P rs121913632 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004590 p.Asp778Gly LP/P rs121913634 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004591 p.Ala797Thr LP/P rs3218716 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004592 p.Arg870His LP/P rs36211715 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004593 p.Leu908Val LP/P rs121913631 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004594 p.Glu924Lys LP/P rs121913628 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004595 p.Glu930Lys LP/P rs397516171 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004597 p.Glu935Lys LP/P rs121913639 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004598 p.Glu949Lys LP/P rs121913629 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_014199 p.Glu743Asp LP/P rs397516139 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_017745 p.Asp107Glu LB/B rs2754166 - MYH7 P12883 VAR_017746 p.Ala223Thr LP/P rs121913645 Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_017747 p.Ser532Pro LP/P rs121913642 Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_017748 p.Ser642Leu LP/P rs121913646 Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_017749 p.Arg719Gln LP/P rs121913641 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_017750 p.Ala728Val LP/P rs121913644 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_017751 p.Phe764Leu LP/P rs121913643 Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_017753 p.Ala1124Ser LB/B rs1041961 - MYH7 P12883 VAR_017754 p.Arg1845Trp LP/P rs28933098 Congenital myopathy 7A, myosin storage, autosomal dominant (CMYP7A) [MIM:608358] MYH7 P12883 VAR_019845 p.Val39Met LP/P rs376160714 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019846 p.Thr188Asn LP/P rs730880844 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019847 p.Arg204His LP/P rs397516260 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019848 p.Asn232Ser LP/P rs1302598456 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019849 p.Ala355Thr LP/P rs397516088 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019850 p.Ala428Val LP/P rs727503266 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019851 p.Ile443Thr LP/P rs1234112565 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019852 p.Asn479Ser LP/P rs727504236 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019853 p.Glu483Lys LP/P rs121913651 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019854 p.Met659Ile LP/P rs1241603111 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019855 p.Arg663His LP/P rs371898076 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019856 p.Arg663Ser LP/P - Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019857 p.Arg671Cys LP/P rs727503263 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019858 p.Gly733Glu LP/P rs727504241 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019859 p.Gly768Arg LP/P rs727503260 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019860 p.Asp778Glu LP/P rs2069544 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019861 p.Arg787His LP/P rs376754645 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019862 p.Met852Thr LP/P rs397516157 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019863 p.Arg869Gly LP/P rs730880750 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019865 p.Leu1135Arg LP/P rs1195446785 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019866 p.Glu1218Gln LP/P rs1170782159 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019867 p.Thr1377Met LP/P rs397516201 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019868 p.Ala1379Thr LP/P rs397516202 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019869 p.Arg1382Trp LP/P rs730880910 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019870 p.Val1692Met US - Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019871 p.Ala1777Thr LP/P rs200939753 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020797 p.Thr124Ile LP/P rs1184284157 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020798 p.Tyr162Cys LP/P rs1057517771 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020799 p.Asn187Lys LP/P rs1057517772 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020800 p.Arg190Thr LP/P rs1159921588 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020801 p.Gln222Lys LP/P rs1060501445 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020802 p.Phe244Leu LP/P rs730880849 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020803 p.Val320Met LP/P rs376897125 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020804 p.Leu390Val LP/P - Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020805 p.Val406Met LP/P rs1422611896 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020806 p.Glu499Lys LP/P rs3218715 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020807 p.Gln595Arg LP/P rs1381638438 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020808 p.Leu601Val LP/P rs1131691685 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020809 p.Arg694Cys LP/P rs727504240 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020810 p.Asn696Ser LP/P rs730880732 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020811 p.Arg712Leu LP/P rs1224554825 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020812 p.Arg723Gly LP/P rs121913630 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020813 p.Ser782Asn LP/P rs886039185 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020814 p.Glu846Gln LP/P rs730880748 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020815 p.Arg869Cys LP/P rs730880750 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020816 p.Arg870Cys LP/P rs138049878 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020817 p.Met877Lys LP/P rs1282663873 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020819 p.Ser1491Cys LB/B rs3729823 - MYH7 P12883 VAR_020820 p.Glu1555Lys LP/P rs727505176 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020821 p.Ser1776Gly LP/P rs369437262 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_022369 p.Arg1500Pro LP/P rs121913647 Myopathy, distal, 1 (MPD1) [MIM:160500] MYH7 P12883 VAR_022370 p.Ala1663Pro LP/P rs797044601 Myopathy, distal, 1 (MPD1) [MIM:160500] MYH7 P12883 VAR_022371 p.Leu1706Pro LP/P rs797044602 Myopathy, distal, 1 (MPD1) [MIM:160500] MYH7 P12883 VAR_029430 p.Asp3Ala LB/B rs3729993 - MYH7 P12883 VAR_029431 p.Arg143Trp LP/P rs727503278 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029432 p.Val411Ile LP/P rs730880868 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029433 p.Ala430Glu LP/P rs1566535170 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029434 p.Glu466Gln LB/B rs4981473 - MYH7 P12883 VAR_029435 p.Leu517Met LP/P rs727504237 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029436 p.Gly584Ser LP/P rs121913626 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029437 p.Arg694His LP/P rs886039030 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029438 p.Gln734Glu LP/P rs1173617248 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029439 p.Ile736Thr LP/P rs727503261 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029440 p.Leu796Phe LP/P rs1222361739 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029441 p.Val824Ile LP/P rs397516149 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029442 p.Cys905Phe LP/P rs730880757 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029443 p.Glu924Gln LP/P rs121913628 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029444 p.Asp928Asn LP/P rs727503252 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_039562 p.Met515Val LP/P - Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_039563 p.Arg858Cys LP/P rs2754158 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042762 p.Tyr115His LP/P rs397516183 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042763 p.Arg143Gly LP/P rs727503278 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042764 p.Lys146Asn LP/P rs397516212 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042765 p.Ser148Ile LP/P rs772691929 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042766 p.Val186Leu LP/P rs786205906 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042767 p.Ala196Thr LP/P rs1250974235 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042768 p.Ile201Thr LP/P rs397516258 Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_042769 p.Lys207Gln LP/P rs727504273 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042770 p.Pro211Leu LP/P rs727503277 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042771 p.Leu227Val LP/P rs1230432463 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042772 p.Ile263Met LP/P rs730880855 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042773 p.Phe312Cys LP/P rs1244223899 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042774 p.Glu328Gly LP/P rs1459392243 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042775 p.Lys351Glu LP/P rs730880864 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042776 p.Lys383Asn LP/P rs1378946537 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042777 p.Ala385Val LP/P rs1275734785 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042778 p.Val404Leu LP/P rs730880867 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042779 p.Val404Met LP/P rs730880867 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042780 p.Gly407Val LP/P rs397516095 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042781 p.Thr412Asn LP/P rs1428725625 Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_042782 p.Gly425Arg LP/P rs397516097 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042783 p.Met435Thr LP/P rs1484300349 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042784 p.Val440Met LP/P rs397516098 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042785 p.Thr441Met LP/P rs121913653 Myopathy, distal, 1 (MPD1) [MIM:160500] MYH7 P12883 VAR_042786 p.Lys450Glu LP/P rs1403027088 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042787 p.Lys450Thr LP/P rs1352198296 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042788 p.Arg453His LP/P rs397516101 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042789 p.Glu500Ala LP/P rs727504286 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042790 p.Tyr501Cys LP/P rs1288878100 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042791 p.Ile511Phe LP/P rs1333791654 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042792 p.Ile511Thr LP/P rs397516110 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042793 p.Met515Arg LP/P rs863224900 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042794 p.Ala550Val LP/P rs1188606962 Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_042795 p.Gly571Arg LP/P rs730880879 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042796 p.His576Arg LP/P rs727504238 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042797 p.Lys615Gln LP/P - Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042798 p.Arg663Cys LP/P rs397516127 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042799 p.Val698Ala LP/P rs397516130 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042800 p.Gln734Pro LP/P rs863225097 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042801 p.Ala742Glu LP/P rs786205907 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042802 p.Val763Gly LP/P rs730880735 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042803 p.Glu774Val LP/P rs1425960124 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042804 p.Asp778Val LP/P rs121913634 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042805 p.Met822Leu LP/P rs730880742 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042806 p.Met822Thr LP/P rs1373092362 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042807 p.Gly823Glu LP/P rs1278076805 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042809 p.Arg858His LP/P rs2856897 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042810 p.Arg869His LP/P rs202141173 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042811 p.Gln882Glu LP/P rs397516160 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042812 p.Glu894Gly LP/P rs397516161 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042813 p.Ala901Gly LP/P rs1406848007 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042814 p.Asp906Gly LP/P rs267606908 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042815 p.Glu921Lys LP/P rs730880759 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042816 p.Glu927Lys LP/P rs397516170 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042817 p.Glu931Lys LP/P rs1131691514 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042818 p.Asp953His LP/P rs1391622163 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042819 p.Thr1019Asn LP/P rs755392435 Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_042820 p.Gly1057Asp LP/P rs1298412196 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042821 p.Gly1057Ser LP/P rs397516179 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042822 p.Arg1193Ser LP/P rs886039090 Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_042823 p.Asn1327Lys LP/P rs141764279 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042824 p.Glu1356Lys LP/P rs727503246 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042825 p.Arg1420Trp LP/P rs145213771 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042826 p.Glu1426Lys LP/P rs397516208 Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_042827 p.Ala1454Thr LP/P rs1358268382 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042828 p.Lys1459Asn LP/P rs201307101 Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_042828 p.Lys1459Asn LP/P rs201307101 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042829 p.Arg1475Cys LB/B rs139646545 - MYH7 P12883 VAR_042830 p.Thr1513Ser LP/P rs397516222 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042831 p.Ser1519Cys LB/B - - MYH7 P12883 VAR_042833 p.Arg1634Cys US rs397516232 Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_042834 p.Arg1712Trp LP/P rs121913650 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042836 p.Glu1753Lys LP/P rs545585809 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042837 p.Glu1768Lys LP/P rs397516241 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042838 p.Thr1854Met LP/P rs372381770 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042839 p.Glu1883Lys LP/P rs121913652 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042840 p.His1901Leu LP/P rs121913649 Congenital myopathy 7A, myosin storage, autosomal dominant (CMYP7A) [MIM:608358] MYH7 P12883 VAR_042841 p.Lys1919Asn LB/B rs1343372308 - MYH7 P12883 VAR_042842 p.Thr1929Met US rs730880918 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_045926 p.Val763Met LP/P rs727504253 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_045927 p.Arg787Cys LP/P rs145677314 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_045928 p.Leu1414Met LP/P rs201895208 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_067260 p.Val1044Ala LP/P - Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_067262 p.Ala1263Glu LP/P rs758889483 Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_067263 p.Leu1297Val LP/P - Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_072816 p.Glu1752Lys LP/P rs730880916 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_073876 p.Arg243His LP/P rs267606910 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_073876 p.Arg243His LP/P rs267606910 Left ventricular non-compaction 5 (LVNC5) [MIM:613426] MYH7 P12883 VAR_073877 p.Tyr283Asp LP/P rs397515482 Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_073878 p.Tyr350Asn LP/P - Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_073879 p.Leu390Pro LP/P - Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_073880 p.Arg453Ser LP/P rs121913625 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_073881 p.Glu497Asp LP/P rs267606911 Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_073883 p.Arg1359Cys US rs45451303 Left ventricular non-compaction 5 (LVNC5) [MIM:613426] MYH7 P12883 VAR_073884 p.Glu1573Lys US rs750987717 Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_073885 p.Ser1776Thr LP/P - Left ventricular non-compaction 5 (LVNC5) [MIM:613426] MYH7 P12883 VAR_073886 p.Leu1793Pro LP/P rs121913654 Congenital myopathy 7A, myosin storage, autosomal dominant (CMYP7A) [MIM:608358] MYH7 P12883 VAR_073887 p.Arg1820Trp LP/P rs145734640 Congenital myopathy 7B, myosin storage, autosomal recessive (CMYP7B) [MIM:255160] MYH7 P12883 VAR_073888 p.Asn1918Lys LP/P - Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_080399 p.Phe252Leu LP/P - Left ventricular non-compaction 5 (LVNC5) [MIM:613426] MYH7B A7E2Y1 VAR_046359 p.Pro70Thr LB/B rs17092199 - MYH7B A7E2Y1 VAR_046360 p.Phe501Tyr LB/B rs754511 - MYH7B A7E2Y1 VAR_046361 p.Pro780Ser LB/B rs3746442 - MYH7B A7E2Y1 VAR_046362 p.Lys1552Asn LB/B rs3746435 - MYH7B A7E2Y1 VAR_046363 p.Ala1581Val LB/B rs6060147 - MYH7B A7E2Y1 VAR_046364 p.Gln1698Arg LB/B rs6060148 - MYH7B A7E2Y1 VAR_046365 p.Val1917Glu LB/B rs7273482 - MYH7B A7E2Y1 VAR_054814 p.Glu1007Lys LB/B rs2425015 - MYH8 P13535 VAR_019810 p.Arg674Gln LP/P rs121434590 Arthrogryposis, distal, 7 (DA7) [MIM:158300] MYH8 P13535 VAR_019810 p.Arg674Gln LP/P rs121434590 Carney complex variant (CACOV) [MIM:608837] MYH8 P13535 VAR_030207 p.Glu924Gly LB/B rs4372733 - MYH8 P13535 VAR_030208 p.Glu1261Gly LB/B rs1063926 - MYH8 P13535 VAR_030209 p.Trp1692Arg LB/B rs8069834 - MYH8 P13535 VAR_050202 p.Ile326Thr LB/B rs34124921 - MYH8 P13535 VAR_050203 p.Ala636Val LB/B rs34693726 - MYH8 P13535 VAR_050204 p.Met1229Thr LB/B rs35962914 - MYH9 P35579 VAR_010791 p.Asn93Lys LP/P rs121913655 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_010792 p.Arg702Cys LP/P rs80338826 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_010793 p.Arg705His LP/P rs80338828 Deafness, autosomal dominant, 17 (DFNA17) [MIM:603622] MYH9 P35579 VAR_010794 p.Thr1155Ile LP/P rs121913656 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_010795 p.Arg1165Cys LP/P rs80338829 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_010796 p.Asp1424His LP/P rs80338831 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_010797 p.Glu1841Lys LP/P rs80338834 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_018308 p.Ala95Thr LP/P rs1603484047 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_018309 p.Ser96Leu LP/P rs121913657 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_018310 p.Lys373Asn LP/P rs1603483388 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_018311 p.Arg702His LP/P rs80338827 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_018312 p.Ser1114Pro LP/P rs200901330 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_018313 p.Arg1165Leu LP/P rs80338830 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_018315 p.Arg1400Trp LP/P rs76368635 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_018316 p.Asp1424Asn LP/P rs80338831 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_018317 p.Asp1424Tyr LP/P rs80338831 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_018318 p.Ile1626Val LB/B rs2269529 - MYH9 P35579 VAR_030385 p.Ile1816Val LP/P rs762773112 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_036006 p.Lys810Asn US - A breast cancer sample MYH9 P35579 VAR_044226 p.Lys910Gln LP/P rs554332083 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9 P35579 VAR_044227 p.Val967Glu LB/B rs16996652 - MYH9 P35579 VAR_083825 p.Glu1228Lys US rs746956415 Deafness, autosomal dominant, 17 (DFNA17) [MIM:603622] MYL1 P05976 VAR_082312 p.Met163Arg LP/P rs1259220084 Congenital myopathy 14 (CMYP14) [MIM:618414] MYL10 Q9BUA6 VAR_039401 p.Met46Thr LB/B rs12216595 - MYL11 Q96A32 VAR_085167 p.Ala33Val US - Arthrogryposis, distal, 1C (DA1C) [MIM:619110] MYL11 Q96A32 VAR_085168 p.Cys157Phe LP/P rs756765686 Arthrogryposis, distal, 1C (DA1C) [MIM:619110] MYL11 Q96A32 VAR_085169 p.Cys157Arg LP/P rs748809300 Arthrogryposis, distal, 1C (DA1C) [MIM:619110] MYL11 Q96A32 VAR_085170 p.Gly163Ser US - Arthrogryposis, distal, 1C (DA1C) [MIM:619110] MYL12B O14950 VAR_046371 p.Glu141Gly LB/B rs14720 - MYL2 P10916 VAR_004601 p.Ala13Thr LP/P rs104894363 Cardiomyopathy, familial hypertrophic, 10 (CMH10) [MIM:608758] MYL2 P10916 VAR_004602 p.Phe18Leu LP/P rs104894370 Cardiomyopathy, familial hypertrophic, 10 (CMH10) [MIM:608758] MYL2 P10916 VAR_004603 p.Glu22Lys LP/P rs104894368 Cardiomyopathy, familial hypertrophic, 10 (CMH10) [MIM:608758] MYL2 P10916 VAR_004604 p.Arg58Gln LP/P rs104894369 Cardiomyopathy, familial hypertrophic, 10 (CMH10) [MIM:608758] MYL2 P10916 VAR_004605 p.Pro95Ala LP/P rs121913658 Cardiomyopathy, familial hypertrophic, 10 (CMH10) [MIM:608758] MYL2 P10916 VAR_019844 p.Asp166Val LP/P rs199474815 Cardiomyopathy, familial hypertrophic, 10 (CMH10) [MIM:608758] MYL2 P10916 VAR_029449 p.Gly57Arg LB/B rs2428140 - MYL3 P08590 VAR_004599 p.Met149Val LP/P rs104893748 Cardiomyopathy, familial hypertrophic, 8 (CMH8) [MIM:608751] MYL3 P08590 VAR_004600 p.Arg154His LP/P rs104893749 Cardiomyopathy, familial hypertrophic, 8 (CMH8) [MIM:608751] MYL3 P08590 VAR_019842 p.Glu56Gly LP/P rs199474702 Cardiomyopathy, familial hypertrophic, 8 (CMH8) [MIM:608751] MYL3 P08590 VAR_019843 p.Glu143Lys LP/P rs104893750 Cardiomyopathy, familial hypertrophic, 8 (CMH8) [MIM:608751] MYL3 P08590 VAR_073726 p.Glu177Gly LP/P rs193922391 Cardiomyopathy, familial hypertrophic, 8 (CMH8) [MIM:608751] MYL4 P12829 VAR_050458 p.Asn186Tyr LB/B rs16941677 - MYL4 P12829 VAR_077959 p.Glu11Lys LP/P rs886037778 Atrial fibrillation, familial, 18 (ATFB18) [MIM:617280] MYL5 Q02045 VAR_050459 p.Phe88Ser LB/B rs2228354 - MYL6 P60660 VAR_034118 p.Thr103Pro LB/B rs1050470 - MYL6 P60660 VAR_050457 p.Thr85Ile LB/B rs11553509 - MYLIP Q8WY64 VAR_019805 p.Asn342Ser LB/B rs9370867 - MYLK Q15746 VAR_019986 p.Leu861Pro LB/B rs3732486 - MYLK Q15746 VAR_019987 p.Asp914Glu LB/B rs3732487 - MYLK Q15746 VAR_040847 p.Val261Ala LB/B rs3796164 - MYLK Q15746 VAR_040848 p.Thr276Ala LB/B rs55846245 - MYLK Q15746 VAR_040849 p.Arg378His LB/B rs56378658 - MYLK Q15746 VAR_040850 p.Met405Val LB/B rs35436690 - MYLK Q15746 VAR_040851 p.Pro443Ser LB/B rs35156360 - MYLK Q15746 VAR_040852 p.Arg607Gly LB/B - - MYLK Q15746 VAR_040853 p.Pro652Ala LB/B rs750686734 - MYLK Q15746 VAR_040854 p.Trp656Cys LB/B rs138172035 - MYLK Q15746 VAR_040855 p.Thr692Met LB/B rs776858093 - MYLK Q15746 VAR_040856 p.Ala701Thr LB/B rs142835596 - MYLK Q15746 VAR_040857 p.Val709Met LB/B rs112537316 - MYLK Q15746 VAR_040858 p.Ala1527Val LB/B rs34982967 - MYLK Q15746 VAR_040859 p.Pro1588Leu US rs1576401641 An ovarian mucinous carcinoma sample MYLK Q15746 VAR_057106 p.Pro21His LB/B rs28497577 - MYLK Q15746 VAR_057107 p.Pro336Leu LB/B rs35912339 - MYLK Q15746 VAR_057108 p.Arg845Cys LB/B rs3732485 - MYLK Q15746 VAR_057109 p.Val877Met LB/B rs34542174 - MYLK Q15746 VAR_065570 p.Ala128Val LB/B rs143896146 - MYLK Q15746 VAR_065571 p.Gln133His LB/B rs140148380 - MYLK Q15746 VAR_065572 p.Pro160Arg LB/B rs111256888 - MYLK Q15746 VAR_065573 p.Thr1085Ala LB/B rs75370906 - MYLK Q15746 VAR_065574 p.Val1213Met US rs368390254 Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780] MYLK Q15746 VAR_065575 p.Glu1399Lys LB/B rs181663420 - MYLK Q15746 VAR_065576 p.Ala1754Thr LP/P - Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780] MYLK Q15746 VAR_065577 p.Ser1759Pro LP/P rs387906781 Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780] MYLK Q15746 VAR_083425 p.Ala1491Ser LP/P rs1576422965 Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780] MYLK2 Q9H1R3 VAR_014197 p.Ala87Val LP/P rs121908107 Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600] MYLK2 Q9H1R3 VAR_014198 p.Ala95Glu LP/P rs121908108 Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600] MYLK2 Q9H1R3 VAR_040860 p.Ala117Val US rs1229709568 A lung neuroendocrine carcinoma sample MYLK2 Q9H1R3 VAR_040861 p.Gly142Val LB/B rs56385445 - MYLK2 Q9H1R3 VAR_040862 p.Pro144Ala LB/B rs34396614 - MYLK2 Q9H1R3 VAR_040863 p.Lys324Asn LB/B rs34146416 - MYLK3 Q32MK0 VAR_035630 p.Gly390Arg US rs141602742 A colorectal cancer sample MYLK3 Q32MK0 VAR_058335 p.Ser70Thr LB/B rs9923813 - MYLK3 Q32MK0 VAR_058336 p.Val180Leu LB/B rs28407821 - MYLK4 Q86YV6 VAR_040864 p.Glu30Gln US - A breast infiltrating ductal carcinoma sample MYLK4 Q86YV6 VAR_040865 p.Gly50Arg LB/B rs2296356 - MYLK4 Q86YV6 VAR_040866 p.Ala78Ser US rs762093504 A breast infiltrating ductal carcinoma sample MYLK4 Q86YV6 VAR_040867 p.Thr126Met LB/B rs34953021 - MYLK4 Q86YV6 VAR_040868 p.His217Leu US - A lung squamous cell carcinoma sample MYLK4 Q86YV6 VAR_040869 p.Cys318Tyr LB/B rs35609073 - MYLK4 Q86YV6 VAR_040870 p.Gln373Arg LB/B rs35211631 - MYLK4 Q86YV6 VAR_051650 p.Glu39Ala LB/B rs7770402 - MYMK A6NI61 VAR_079262 p.Pro91Thr US rs137868995 Carey-Fineman-Ziter syndrome 1 (CFZS1) [MIM:254940] MYMK A6NI61 VAR_079263 p.Gly100Ser LP/P rs964335184 Carey-Fineman-Ziter syndrome 1 (CFZS1) [MIM:254940] MYMK A6NI61 VAR_079264 p.Ile154Thr LP/P rs1131692249 Carey-Fineman-Ziter syndrome 1 (CFZS1) [MIM:254940] MYMK A6NI61 VAR_079265 p.Cys185Arg LP/P rs1131692247 Carey-Fineman-Ziter syndrome 1 (CFZS1) [MIM:254940] MYMK A6NI61 VAR_081291 p.Trp79Arg US - Carey-Fineman-Ziter syndrome 1 (CFZS1) [MIM:254940] MYO10 Q9HD67 VAR_046328 p.Val32Ile LB/B rs17707947 - MYO10 Q9HD67 VAR_046329 p.Glu273Asp LB/B rs6870170 - MYO10 Q9HD67 VAR_046330 p.Arg324Trp LB/B rs11750538 - MYO10 Q9HD67 VAR_046331 p.Arg700Gln LB/B rs26740 - MYO10 Q9HD67 VAR_046332 p.Ser1663Thr LB/B rs25901 - MYO10 Q9HD67 VAR_061366 p.His148Tyr LB/B rs7737765 - MYO15A Q9UKN7 VAR_010303 p.Asn2111Tyr LP/P rs121908966 Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316] MYO15A Q9UKN7 VAR_010304 p.Ile2113Phe LP/P rs121908965 Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316] MYO15A Q9UKN7 VAR_037959 p.Cys1977Arg LB/B rs854777 - MYO15A Q9UKN7 VAR_037960 p.Gly2018Arg LB/B rs2272571 - MYO15A Q9UKN7 VAR_037961 p.Thr2205Ile LB/B rs121908970 - MYO15A Q9UKN7 VAR_037962 p.Ala2490Thr LB/B rs16960959 - MYO15A Q9UKN7 VAR_037963 p.Tyr2682Phe LB/B rs712270 - MYO15A Q9UKN7 VAR_037964 p.Gln2716His LP/P rs121908969 Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316] MYO15A Q9UKN7 VAR_071648 p.Leu1806Pro LP/P - Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316] MYO15B Q96JP2 VAR_080141 p.Arg1606Trp LB/B rs3803728 - MYO16 Q9Y6X6 VAR_032584 p.Met385Thr LB/B rs16973313 - MYO16 Q9Y6X6 VAR_032585 p.Pro831Ala LB/B rs3825491 - MYO16 Q9Y6X6 VAR_050214 p.Asp181Glu LB/B rs911973 - MYO16 Q9Y6X6 VAR_050215 p.Val339Ile LB/B rs405397 - MYO16 Q9Y6X6 VAR_050216 p.Ile1171Met LB/B rs157024 - MYO16 Q9Y6X6 VAR_064737 p.Leu1168His US - - MYO16 Q9Y6X6 VAR_088422 p.Tyr829Cys LB/B rs767295227 - MYO16 Q9Y6X6 VAR_088423 p.Ala1258Thr LB/B rs141597688 - MYO18A Q92614 VAR_030585 p.Ala958Val LB/B rs8076604 - MYO18B Q8IUG5 VAR_015862 p.Gly234Val US - A lung small cell carcinoma sample MYO18B Q8IUG5 VAR_015863 p.Lys347Asn US - A lung small cell carcinoma sample MYO18B Q8IUG5 VAR_015864 p.Arg379Gln US rs750078923 A lung small cell carcinoma sample MYO18B Q8IUG5 VAR_015865 p.Trp389Cys US - A lung adenocarcinoma sample MYO18B Q8IUG5 VAR_015866 p.Thr590Met US rs370187232 A lung large cell carcinoma sample MYO18B Q8IUG5 VAR_015867 p.Trp661Arg LB/B rs5761170 - MYO18B Q8IUG5 VAR_015868 p.Ala835Gly US - A lung squamous cell carcinoma sample MYO18B Q8IUG5 VAR_015869 p.Arg1095Leu US - A lung adenocarcinoma sample MYO18B Q8IUG5 VAR_015870 p.Arg1195Gln US rs1429133479 A lung small cell carcinoma sample MYO18B Q8IUG5 VAR_015871 p.Pro1238Gln US - A lung large cell carcinoma sample MYO18B Q8IUG5 VAR_015872 p.Pro1238Thr US - A lung adenocarcinoma sample MYO18B Q8IUG5 VAR_015873 p.Glu1708Lys US - A lung adenocarcinoma sample MYO18B Q8IUG5 VAR_015874 p.Glu1715Asp US - A lung adenocarcinoma sample MYO18B Q8IUG5 VAR_015875 p.Ala1970Glu US - A lung small cell carcinoma sample MYO18B Q8IUG5 VAR_015876 p.Gly2295Cys US - A lung small cell carcinoma sample MYO18B Q8IUG5 VAR_015877 p.Gln2347Arg LB/B rs2236005 - MYO18B Q8IUG5 VAR_015878 p.Arg2381His US rs200567905 A lung adenocarcinoma sample MYO18B Q8IUG5 VAR_015879 p.Asp2554Glu US rs780180192 A lung large cell carcinoma sample MYO18B Q8IUG5 VAR_056190 p.Gly44Glu LB/B rs133885 - MYO18B Q8IUG5 VAR_056191 p.Pro177Leu LB/B rs13058434 - MYO18B Q8IUG5 VAR_056192 p.Trp547Cys LB/B rs3859866 - MYO18B Q8IUG5 VAR_056193 p.Ser925Leu LB/B rs9624909 - MYO18B Q8IUG5 VAR_056194 p.Trp1037Ser LB/B rs17704912 - MYO18B Q8IUG5 VAR_056195 p.His1119Gln LB/B rs5761268 - MYO18B Q8IUG5 VAR_056196 p.Ser1390Phe LB/B rs35578357 - MYO18B Q8IUG5 VAR_056197 p.Ile1399Val LB/B rs695633 - MYO18B Q8IUG5 VAR_056198 p.Ser1444Thr LB/B rs33928909 - MYO18B Q8IUG5 VAR_056199 p.Ala2294Asp LB/B rs35370367 - MYO18B Q8IUG5 VAR_056200 p.Gly2395Ala LB/B rs6004901 - MYO18B Q8IUG5 VAR_056201 p.Gly2513Ser LB/B rs7284177 - MYO18B Q8IUG5 VAR_056202 p.Arg2532Gln LB/B rs34875296 - MYO19 Q96H55 VAR_043018 p.Asn176Ser LB/B rs2306595 - MYO19 Q96H55 VAR_043019 p.Gln203His LB/B rs9890918 - MYO19 Q96H55 VAR_043020 p.Leu475Ile LB/B rs7217346 - MYO1A Q9UBC5 VAR_015946 p.Val306Met US rs55679042 - MYO1A Q9UBC5 VAR_015947 p.Glu385Asp US rs61753849 - MYO1A Q9UBC5 VAR_015948 p.Gly662Glu LB/B rs33962952 - MYO1A Q9UBC5 VAR_015949 p.Gly674Asp US rs148808080 - MYO1A Q9UBC5 VAR_015950 p.Ser797Phe LB/B rs113470661 - MYO1A Q9UBC5 VAR_015951 p.Ser910Pro US rs121909306 - MYO1A Q9UBC5 VAR_020320 p.Phe600Leu LB/B rs2270738 - MYO1A Q9UBC5 VAR_050207 p.Pro426Leu LB/B rs4759043 - MYO1A Q9UBC5 VAR_050208 p.Cys506Ser LB/B rs12297756 - MYO1A Q9UBC5 VAR_050209 p.Thr996Ile LB/B rs17119344 - MYO1B O43795 VAR_014113 p.Glu969Lys US - A melanoma patient MYO1B O43795 VAR_036007 p.Val385Gly US - A colorectal cancer sample MYO1B O43795 VAR_036008 p.Val385Ile US - A colorectal cancer sample MYO1C O00159 VAR_054855 p.Val795Ile LB/B rs8081370 - MYO1C O00159 VAR_054856 p.Gln826Arg LB/B rs9905106 - MYO1D O94832 VAR_050210 p.Pro765Ser LB/B rs7209106 - MYO1D O94832 VAR_050211 p.Arg771His LB/B rs7215958 - MYO1E Q12965 VAR_065958 p.Ala159Pro LP/P rs387906807 Focal segmental glomerulosclerosis 6 (FSGS6) [MIM:614131] MYO1E Q12965 VAR_065959 p.Asp185Gly LB/B rs141565214 - MYO1E Q12965 VAR_065960 p.Ala221Val LB/B - - MYO1E Q12965 VAR_065961 p.Gly795Arg LB/B rs180951130 - MYO1E Q12965 VAR_065962 p.Pro1049His LB/B rs147579391 - MYO1E Q12965 VAR_081166 p.Thr469Met LB/B rs1173043275 - MYO1E Q12965 VAR_087569 p.Thr119Ile LP/P - Focal segmental glomerulosclerosis 6 (FSGS6) [MIM:614131] MYO1E Q12965 VAR_087570 p.Asp388His LP/P - Focal segmental glomerulosclerosis 6 (FSGS6) [MIM:614131] MYO1E Q12965 VAR_087571 p.Arg523Trp US - - MYO1F O00160 VAR_056179 p.Pro960Leu LB/B rs2288411 - MYO1F O00160 VAR_079873 p.Ile502Val LB/B rs200797032 - MYO1G B0I1T2 VAR_044013 p.Val49Met LB/B rs61739531 - MYO1G B0I1T2 VAR_044014 p.Met489Thr LB/B rs3735485 - MYO1G B0I1T2 VAR_044015 p.Gln861Arg LB/B rs7792760 - MYO1G B0I1T2 VAR_050212 p.Arg798Gln LB/B rs2107737 - MYO1H Q8N1T3 VAR_043131 p.Ser37Arg LB/B rs11611277 - MYO1H Q8N1T3 VAR_043132 p.His705Tyr LB/B rs34725387 - MYO1H Q8N1T3 VAR_050213 p.Leu1011Pro LB/B rs3825393 - MYO3A Q8NEV4 VAR_021866 p.Asp204Asn LB/B rs3737274 - MYO3A Q8NEV4 VAR_021867 p.Ser956Asn LB/B rs3758449 - MYO3A Q8NEV4 VAR_022779 p.Arg1313Ser LB/B rs1999240 - MYO3A Q8NEV4 VAR_033905 p.Thr1284Ser LB/B rs3740231 - MYO3A Q8NEV4 VAR_040871 p.Thr178Ile LB/B rs33968748 - MYO3A Q8NEV4 VAR_040872 p.Arg319His LB/B rs3824700 - MYO3A Q8NEV4 VAR_040873 p.Ile348Val LB/B rs3824699 - MYO3A Q8NEV4 VAR_040874 p.Val369Ile LB/B rs3817420 - MYO3A Q8NEV4 VAR_040875 p.Asn525Lys US rs1423134583 An ovarian mucinous carcinoma sample MYO3A Q8NEV4 VAR_040876 p.Ala833Ser LB/B rs33947968 - MYO3A Q8NEV4 VAR_040877 p.Ser956Arg US - An ovarian serous carcinoma sample MYO3A Q8NEV4 VAR_040878 p.Ala1032Thr LB/B rs34918608 - MYO3A Q8NEV4 VAR_040879 p.Val1045Met LB/B rs35447806 - MYO3A Q8NEV4 VAR_040880 p.Val1137Met LB/B rs35449183 - MYO3A Q8NEV4 VAR_040881 p.Val1195Ala LB/B rs35675577 - MYO3A Q8NEV4 VAR_040882 p.Pro1287Thr LB/B rs35575696 - MYO3A Q8NEV4 VAR_040883 p.Asp1347His US - A renal clear cell carcinoma sample MYO3A Q8NEV4 VAR_040884 p.Thr1417Ile LB/B rs34151474 - MYO3A Q8NEV4 VAR_040885 p.Lys1488Glu LB/B rs34204285 - MYO3B Q8WXR4 VAR_030605 p.Ile275Val LB/B rs10209102 - MYO3B Q8WXR4 VAR_030606 p.Lys309Glu LB/B rs4668246 - MYO3B Q8WXR4 VAR_030607 p.Ala406Thr LB/B rs10168181 - MYO3B Q8WXR4 VAR_030608 p.Val770Ile LB/B rs6736609 - MYO3B Q8WXR4 VAR_030609 p.Glu798Lys LB/B rs11892763 - MYO3B Q8WXR4 VAR_030610 p.Arg1082Lys LB/B rs10185178 - MYO3B Q8WXR4 VAR_040886 p.Pro21Ser LB/B rs35391761 - MYO3B Q8WXR4 VAR_040887 p.Arg185His LB/B rs55911154 - MYO3B Q8WXR4 VAR_040888 p.Asn267Ser LB/B rs34509373 - MYO3B Q8WXR4 VAR_040889 p.His316Leu LB/B rs55633190 - MYO3B Q8WXR4 VAR_040890 p.Glu352Gln LB/B rs56179904 - MYO3B Q8WXR4 VAR_040891 p.Asn388Ser LB/B rs34273653 - MYO3B Q8WXR4 VAR_040892 p.Gln638Pro LB/B rs55911627 - MYO3B Q8WXR4 VAR_040893 p.Glu773Gly LB/B rs33962844 - MYO3B Q8WXR4 VAR_040894 p.Arg918Gln LB/B rs55769829 - MYO3B Q8WXR4 VAR_040895 p.Ser969Cys LB/B rs35857918 - MYO3B Q8WXR4 VAR_040896 p.Arg990Cys LB/B rs34236931 - MYO3B Q8WXR4 VAR_040897 p.Ile1092Val LB/B rs34219776 - MYO3B Q8WXR4 VAR_040898 p.Val1137Ile LB/B rs34546065 - MYO3B Q8WXR4 VAR_040899 p.Arg1165Cys LB/B rs56052422 - MYO5A Q9Y4I1 VAR_010645 p.Arg1246Cys LB/B rs1058219 - MYO5A Q9Y4I1 VAR_056180 p.Met627Thr LB/B rs16964944 - MYO5A Q9Y4I1 VAR_056181 p.Ser1673Leu LB/B rs9282796 - MYO5B Q9ULV0 VAR_054993 p.Val108Gly LP/P rs121908103 Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_054994 p.Arg219His LP/P rs1053713532 Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_054995 p.Arg656Cys LP/P rs121908105 Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_056182 p.Cys10Gly LB/B rs16951438 - MYO5B Q9ULV0 VAR_056183 p.Lys307Asn LB/B rs17659179 - MYO5B Q9ULV0 VAR_056184 p.Arg918His LB/B rs2298624 - MYO5B Q9ULV0 VAR_056185 p.Lys942Arg LB/B rs2277716 - MYO5B Q9ULV0 VAR_063141 p.Thr126Ala LB/B rs1815930 - MYO5B Q9ULV0 VAR_071649 p.Ala143Glu LP/P - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_071650 p.Gly168Arg LP/P rs1324907355 Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_071651 p.Gly316Arg LP/P rs753558336 Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_071652 p.Arg401His LP/P rs1555648414 Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_071653 p.Gly435Arg LP/P rs1283622290 Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_071654 p.Asn456Ser LP/P - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_071655 p.Cys514Arg LP/P - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_071656 p.Pro660Leu LP/P rs121908106 Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_071657 p.Leu1556Arg LP/P - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_071658 p.Met1688Val LB/B rs112417235 - MYO5B Q9ULV0 VAR_072814 p.Phe538Ser LP/P - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_072815 p.Ile550Phe LP/P - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_087245 p.His81Arg LP/P - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_087246 p.Glu82Lys LP/P - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_087247 p.Arg92Cys LP/P - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087248 p.Tyr119Cys US - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087250 p.Ser158Phe US - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087252 p.Cys266Arg LP/P - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087253 p.Gly316Val US - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_087254 p.Gly336Arg US - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_087257 p.Met392Thr LP/P - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087257 p.Met392Thr LP/P - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_087258 p.Arg401Cys LP/P - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087259 p.Ile416Asn US - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_087260 p.Ile488Thr US - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087261 p.Asp492Gly US - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_087262 p.Ile497Phe US - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_087263 p.Ile500Thr US - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087264 p.Pro517Leu US - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087266 p.Ser535Asn US - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087268 p.Val557Leu US - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087270 p.Leu580Pro US - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_087271 p.Ser583Asn US - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087272 p.Leu642Pro US - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087273 p.Tyr654Cys LP/P - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087275 p.Thr686Met US - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_087277 p.Arg799Trp US - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087278 p.Arg824Cys LP/P - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087280 p.Ile934Ser US - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087283 p.Gln1079His US - Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] MYO5B Q9ULV0 VAR_087285 p.Leu1361Pro US - Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] MYO5C Q9NQX4 VAR_010646 p.Leu522Pro LB/B - - MYO5C Q9NQX4 VAR_010647 p.Leu634Ser LB/B - - MYO5C Q9NQX4 VAR_024544 p.Glu1075Lys LB/B rs3825801 - MYO5C Q9NQX4 VAR_056186 p.Pro1396Leu LB/B rs17650440 - MYO5C Q9NQX4 VAR_061365 p.Arg172Cys LB/B rs55686434 - MYO6 Q9UM54 VAR_012110 p.Cys442Tyr LP/P - Deafness, autosomal dominant, 22 (DFNA22) [MIM:606346] MYO6 Q9UM54 VAR_016209 p.Glu216Val LP/P rs121912559 Deafness, autosomal recessive, 37 (DFNB37) [MIM:607821] MYO6 Q9UM54 VAR_029988 p.His246Arg LP/P rs121912560 Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346] MYO7A Q13402 VAR_009315 p.Leu16Ser LB/B rs1052030 - MYO7A Q13402 VAR_009316 p.Gly25Arg LP/P rs782252317 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009317 p.Ile205Val LB/B rs781946292 - MYO7A Q13402 VAR_009318 p.Arg212Cys LP/P rs121965080 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009319 p.Arg212His LP/P rs28934610 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009320 p.Gly214Arg LP/P rs111033283 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009322 p.Arg241Ser LP/P - Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009323 p.Arg244Pro LP/P rs121965081 Deafness, autosomal recessive, 2 (DFNB2) [MIM:600060] MYO7A Q13402 VAR_009324 p.Arg302His LB/B rs41298135 - MYO7A Q13402 VAR_009325 p.Ala397Asp LP/P rs1555067667 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009326 p.Glu450Gln LP/P rs1269622956 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009328 p.Pro503Leu LP/P - Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009329 p.Val597Ile LB/B - - MYO7A Q13402 VAR_009330 p.Met599Ile LP/P rs121965082 Deafness, autosomal recessive, 2 (DFNB2) [MIM:600060] MYO7A Q13402 VAR_009331 p.Leu651Pro LP/P rs876657416 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009332 p.Ala826Thr LP/P rs368341987 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009334 p.Gly955Ser LP/P rs781988557 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009335 p.Leu1087Pro LP/P rs375050157 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009336 p.Glu1170Lys LP/P rs111033214 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009337 p.Arg1240Gln LP/P rs111033178 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009338 p.Ala1288Pro LP/P rs749747871 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009339 p.Arg1343Ser LP/P rs763469001 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009340 p.Arg1602Gln LP/P rs139889944 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009341 p.Ala1628Ser LP/P - Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009343 p.Ser1666Cys LB/B rs2276288 - MYO7A Q13402 VAR_009344 p.Tyr1719Cys LB/B rs77625410 - MYO7A Q13402 VAR_009345 p.Leu1954Ile LB/B rs948962 - MYO7A Q13402 VAR_009346 p.Phe1992Ile LB/B rs771906493 - MYO7A Q13402 VAR_009347 p.Gly2137Glu LP/P rs1191025888 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009348 p.Gly2163Ser LP/P rs747656448 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024039 p.Ala26Glu LP/P rs369125667 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024040 p.Val67Met LP/P rs1555054747 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024041 p.Arg90Pro LP/P - Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024042 p.Ile134Asn LP/P rs111033181 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024043 p.Thr165Met LP/P rs111033174 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024044 p.Arg241Cys LP/P rs782166819 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024046 p.Ala457Val LP/P rs111033286 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024047 p.Gly519Asp LP/P rs111033206 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024048 p.Arg756Trp LP/P rs782174733 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024049 p.Glu968Asp LP/P rs111033233 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024051 p.Arg1743Trp LP/P rs111033287 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024052 p.Leu1858Pro LP/P rs368657015 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024053 p.Arg1883Gln LP/P rs111033215 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024054 p.Pro1887Leu LP/P rs199606180 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024055 p.Gly2187Asp LP/P rs397516332 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_027301 p.His133Asp US rs111033403 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_027302 p.Gly163Arg LP/P rs1472566324 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_027303 p.Lys164Arg LP/P - Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_027304 p.Ala198Thr LP/P - Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_027305 p.Thr204Ala LP/P - Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_027306 p.Asn458Ile LP/P rs121965084 Deafness, autosomal dominant, 11 (DFNA11) [MIM:601317] MYO7A Q13402 VAR_027307 p.Gly722Arg LP/P - Deafness, autosomal dominant, 11 (DFNA11) [MIM:601317] MYO7A Q13402 VAR_027308 p.Arg853Cys LP/P - Deafness, autosomal dominant, 11 (DFNA11) [MIM:601317] MYO7A Q13402 VAR_027309 p.Glu1327Lys LP/P rs373169422 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_027311 p.Thr1566Met LB/B rs41298747 - MYO7A Q13402 VAR_027312 p.Ser1666Gly LB/B - - MYO7A Q13402 VAR_027313 p.Gly1740Ser LB/B rs12275336 - MYO7A Q13402 VAR_027314 p.Arg1873Trp LP/P rs397516321 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_027316 p.Asp2142Asn LB/B rs1132036 - MYO7A Q13402 VAR_056187 p.Glu602Lys LB/B rs2276282 - MYO7A Q13402 VAR_056188 p.Val679Ile LB/B rs35641839 - MYO7A Q13402 VAR_066861 p.Thr193Ile US rs1188616455 - MYO7A Q13402 VAR_071646 p.Met946Arg LP/P rs1296612982 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_071647 p.Glu1248Lys LP/P - Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_074074 p.Glu1812Lys LP/P rs377267777 Usher syndrome 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_077020 p.Gly158Arg US rs1555062409 - MYO7A Q13402 VAR_079504 p.Cys652Arg LP/P - Deafness, autosomal recessive, 2 (DFNB2) [MIM:600060] MYO7B Q6PIF6 VAR_042626 p.Gly21Ser LB/B rs2404991 - MYO7B Q6PIF6 VAR_042627 p.Arg1264Gln LB/B rs2245408 - MYO7B Q6PIF6 VAR_042628 p.Glu1647Asp LB/B rs13025959 - MYO7B Q6PIF6 VAR_042629 p.Gln2105Arg LB/B rs11686946 - MYO9A B2RTY4 VAR_046165 p.Arg37Lys LB/B rs17855105 - MYO9A B2RTY4 VAR_046166 p.Arg85Gln LB/B - - MYO9A B2RTY4 VAR_046167 p.Thr161Ile LB/B rs2929516 - MYO9A B2RTY4 VAR_046168 p.Asn168Asp LB/B - - MYO9A B2RTY4 VAR_046169 p.Leu211Pro LB/B - - MYO9A B2RTY4 VAR_046170 p.Arg946Gln LB/B rs754348944 - MYO9A B2RTY4 VAR_046171 p.Gly1193Glu LB/B rs2415129 - MYO9A B2RTY4 VAR_046172 p.Ser1362Pro LB/B rs55738821 - MYO9A B2RTY4 VAR_046173 p.Pro1476Arg LB/B rs16956375 - MYO9A B2RTY4 VAR_046174 p.His1795Tyr LB/B rs16956367 - MYO9A B2RTY4 VAR_046175 p.His1805Gln LB/B rs2306575 - MYO9A B2RTY4 VAR_046176 p.Arg1834Cys LB/B rs74475742 - MYO9A B2RTY4 VAR_046177 p.Ile2390Val LB/B rs2291280 - MYO9A B2RTY4 VAR_056189 p.Ala825Val LB/B rs11637562 - MYO9A B2RTY4 VAR_081671 p.Tyr203Cys US rs374155761 Myasthenic syndrome, congenital, 24, presynaptic (CMS24) [MIM:618198] MYO9A B2RTY4 VAR_081672 p.Arg1517His US rs149046541 Myasthenic syndrome, congenital, 24, presynaptic (CMS24) [MIM:618198] MYO9A B2RTY4 VAR_081673 p.Asp1698Gly US rs150726107 Myasthenic syndrome, congenital, 24, presynaptic (CMS24) [MIM:618198] MYO9A B2RTY4 VAR_081674 p.Gly2282Glu US - Myasthenic syndrome, congenital, 24, presynaptic (CMS24) [MIM:618198] MYO9A B2RTY4 VAR_081675 p.Arg2283His US rs142345927 Myasthenic syndrome, congenital, 24, presynaptic (CMS24) [MIM:618198] MYOC Q99972 VAR_005468 p.Gly246Arg LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005469 p.Gln337Arg LP/P rs74315335 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005470 p.Gly364Val LP/P rs121909193 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005471 p.Gly367Arg LP/P rs74315334 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005472 p.Pro370Leu LP/P rs74315330 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005473 p.Val426Phe LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005474 p.Tyr437His LP/P rs74315328 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005475 p.Ile477Ser LP/P rs74315331 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005476 p.Asn480Lys LP/P rs74315332 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005477 p.Ile499Phe LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_008969 p.Val53Ala LP/P rs200208925 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_008970 p.Cys433Arg LP/P rs74315338 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009665 p.Phe4Ser LB/B - - MYOC Q99972 VAR_009666 p.Cys9Ser LB/B - - MYOC Q99972 VAR_009667 p.Gly12Arg LB/B rs199752860 - MYOC Q99972 VAR_009668 p.Gln19His LB/B rs2234925 - MYOC Q99972 VAR_009669 p.Asn73Ser LB/B - - MYOC Q99972 VAR_009670 p.Arg76Lys LB/B rs2234926 - MYOC Q99972 VAR_009671 p.Arg82Cys LP/P rs764005392 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009672 p.Arg82His LB/B rs201552559 - MYOC Q99972 VAR_009673 p.Arg189Gln LB/B rs144579767 - MYOC Q99972 VAR_009674 p.Ser203Phe LB/B - - MYOC Q99972 VAR_009675 p.Trp286Arg LP/P rs1351328951 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009676 p.Thr293Lys LP/P rs139122673 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009677 p.Val329Met LB/B rs146391864 - MYOC Q99972 VAR_009678 p.Glu352Lys US rs61745146 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009679 p.Thr353Ile US rs137853277 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009680 p.Pro361Ser LP/P rs1344039930 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009681 p.Thr377Met LP/P rs566289099 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009682 p.Asp380Ala LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009683 p.Asp380Gly LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009684 p.Ser393Arg LP/P rs998968146 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009685 p.Lys398Arg LB/B rs56314834 - MYOC Q99972 VAR_009686 p.Val402Ile LB/B - - MYOC Q99972 VAR_009687 p.Arg422Cys LB/B rs751113505 - MYOC Q99972 VAR_009688 p.Arg422His LP/P rs201573718 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009689 p.Lys423Glu LP/P rs74315336 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009690 p.Ser425Pro US - - MYOC Q99972 VAR_009691 p.Ala445Val LP/P rs140967767 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009692 p.Ile465Met LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009693 p.Arg470Cys LP/P rs771122834 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009694 p.Tyr473Cys US - - MYOC Q99972 VAR_009695 p.Ile477Asn LP/P rs74315331 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009696 p.Pro481Leu LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009697 p.Pro481Thr LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009698 p.Val495Ile LB/B - - MYOC Q99972 VAR_009699 p.Lys500Arg LB/B rs145977437 - MYOC Q99972 VAR_009700 p.Ser502Pro LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_014943 p.Asp208Glu US rs2234927 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054269 p.Pro16Leu LB/B rs745439002 - MYOC Q99972 VAR_054270 p.Ala17Ser LB/B - - MYOC Q99972 VAR_054271 p.Cys25Arg LP/P rs755246983 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054272 p.Gln48His LP/P rs74315339 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054272 p.Gln48His LP/P rs74315339 Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300] MYOC Q99972 VAR_054273 p.Asn57Asp LB/B - - MYOC Q99972 VAR_054274 p.Asn57Ser LB/B rs561439247 - MYOC Q99972 VAR_054275 p.Asp77Glu LB/B - - MYOC Q99972 VAR_054276 p.Leu95Pro LB/B - - MYOC Q99972 VAR_054277 p.Arg126Trp LP/P rs200120115 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054278 p.Arg158Gln LP/P rs199746824 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054279 p.Leu215Pro LB/B rs531050114 - MYOC Q99972 VAR_054280 p.Gly244Val US rs757769997 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054281 p.Cys245Tyr LP/P rs74315340 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054282 p.Val251Ala LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054283 p.Gly252Arg LP/P rs74315341 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054284 p.Glu261Lys LP/P rs982896610 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054285 p.Arg272Gly US - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054286 p.Pro274Arg LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054287 p.Glu300Lys US rs748621461 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054288 p.Glu323Lys LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054289 p.Gln337Glu LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054290 p.Ser341Pro LP/P rs1572210748 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054291 p.Arg342Lys LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054292 p.Ile345Met LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054293 p.Ile360Asn LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054294 p.Ala363Thr LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054295 p.Phe369Leu LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054296 p.Thr377Lys LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054297 p.Asp380His LP/P rs121909194 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054298 p.Asp380Asn LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054299 p.Ser393Asn LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054300 p.Gly399Val LP/P rs28936694 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054301 p.Glu414Lys LB/B rs1351097164 - MYOC Q99972 VAR_054302 p.Ala427Thr LP/P rs754237376 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054303 p.Gly434Ser LP/P rs1200513428 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054304 p.Thr438Ile LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054305 p.Thr448Pro LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054306 p.Asn450Asp LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054307 p.Arg470His LB/B rs750791099 - MYOC Q99972 VAR_054308 p.Tyr471Cys US rs554235897 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054309 p.Ile499Ser LP/P - Glaucoma 1, open angle, A (GLC1A) [MIM:137750] MYOCD Q8IZQ8 VAR_083483 p.Glu530Gly US rs1597809206 Megabladder, congenital (MGBL) [MIM:618719] MYOD1 P15172 VAR_036392 p.Glu262Lys US rs930939009 A breast cancer sample MYOD1 P15172 VAR_036393 p.Ala309Val US rs1471293207 A breast cancer sample MYOF Q9NZM1 VAR_031250 p.Tyr1198Phe LB/B rs12256834 - MYOF Q9NZM1 VAR_031251 p.Arg1399Cys LB/B rs11187393 - MYOF Q9NZM1 VAR_031252 p.Arg1783Gln LB/B rs11594445 - MYOF Q9NZM1 VAR_049058 p.Val1136Ile LB/B rs36032890 - MYOF Q9NZM1 VAR_049059 p.Gly1701Ala LB/B rs34000599 - MYOF Q9NZM1 VAR_085819 p.Arg217Ser US rs1256778304 Angioedema, hereditary, 7 (HAE7) [MIM:619366] MYOM1 P52179 VAR_047221 p.Val22Leu LB/B rs1791085 - MYOM1 P52179 VAR_047222 p.Ser181Pro LB/B rs1962519 - MYOM1 P52179 VAR_047223 p.Thr215Met LB/B rs2230165 - MYOM1 P52179 VAR_047224 p.Gly341Ala LB/B rs8099021 - MYOM1 P52179 VAR_047225 p.Glu600Val LB/B rs9807556 - MYOM1 P52179 VAR_047226 p.Ile960Thr LB/B rs1071600 - MYOM1 P52179 VAR_047227 p.Asp1408Asn LB/B rs3765623 - MYOM1 P52179 VAR_047228 p.Met1453Thr LB/B rs16944397 - MYOM2 P54296 VAR_020083 p.Thr776Met LB/B rs2294066 - MYOM2 P54296 VAR_020084 p.Leu1022Phe LB/B rs2280896 - MYOM2 P54296 VAR_033613 p.Glu81Lys LB/B rs35985218 - MYOM2 P54296 VAR_033614 p.Thr182Met LB/B rs17064618 - MYOM2 P54296 VAR_033615 p.Val321Leu LB/B rs2272720 - MYOM2 P54296 VAR_033616 p.Val363Ile LB/B rs34316994 - MYOM2 P54296 VAR_033617 p.Ser601Tyr LB/B rs36089594 - MYOM2 P54296 VAR_033618 p.Val701Ile LB/B rs35335787 - MYOM2 P54296 VAR_033619 p.Glu1284Asp LB/B rs34735757 - MYOM2 P54296 VAR_054501 p.Ser869Asn LB/B rs968381 - MYOM2 P54296 VAR_061320 p.Val1168Ala LB/B rs17854780 - MYOM3 Q5VTT5 VAR_038179 p.Thr266Met LB/B rs6678540 - MYOM3 Q5VTT5 VAR_038180 p.Met344Thr LB/B rs4233050 - MYOM3 Q5VTT5 VAR_038181 p.Gln435Arg LB/B rs6700245 - MYOM3 Q5VTT5 VAR_038182 p.Asp528Gly LB/B rs4393101 - MYOM3 Q5VTT5 VAR_038183 p.Gly662Arg LB/B rs4320729 - MYOM3 Q5VTT5 VAR_038184 p.Arg775Gln LB/B rs12082295 - MYOM3 Q5VTT5 VAR_038185 p.Pro853Ser LB/B rs35446243 - MYOM3 Q5VTT5 VAR_038186 p.Asp892Ala LB/B rs36077733 - MYOM3 Q5VTT5 VAR_038187 p.Phe1041Leu LB/B rs16829083 - MYOM3 Q5VTT5 VAR_038188 p.Ile1066Thr LB/B rs12145360 - MYOM3 Q5VTT5 VAR_038189 p.Arg1124Gln LB/B rs16829071 - MYOM3 Q5VTT5 VAR_049910 p.Asp258His LB/B rs4319261 - MYORG Q6NSJ0 VAR_033359 p.Asn4Ile LB/B rs2297776 - MYORG Q6NSJ0 VAR_033360 p.Asp53Glu LB/B rs4879781 - MYORG Q6NSJ0 VAR_033361 p.Arg199Ser LB/B rs12377 - MYORG Q6NSJ0 VAR_033362 p.Phe385Tyr LB/B rs7852399 - MYORG Q6NSJ0 VAR_081940 p.Met35Val LP/P rs765483979 Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317] MYORG Q6NSJ0 VAR_081941 p.Gly64Glu US rs756514041 Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317] MYORG Q6NSJ0 VAR_081943 p.Leu113Arg US rs753277260 Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317] MYORG Q6NSJ0 VAR_081947 p.Trp229Cys US rs1588004637 Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317] MYORG Q6NSJ0 VAR_081948 p.Ser232Leu US rs757434146 Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317] MYORG Q6NSJ0 VAR_081950 p.Trp249Cys US rs1356560096 Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317] MYORG Q6NSJ0 VAR_081951 p.Arg261Leu US - Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317] MYORG Q6NSJ0 VAR_081954 p.Ala373Asp US rs1588004082 Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317] MYORG Q6NSJ0 VAR_081955 p.Asp434His US rs916933188 Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317] MYORG Q6NSJ0 VAR_081956 p.Arg441Gly LP/P rs749427106 Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317] MYORG Q6NSJ0 VAR_081959 p.Thr476Asn US rs769099047 Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317] MYORG Q6NSJ0 VAR_081962 p.Arg611Trp US rs536187898 Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317] MYORG Q6NSJ0 VAR_081963 p.Leu622Pro US rs1239594469 Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317] MYORG Q6NSJ0 VAR_081964 p.Ile656Thr US rs370944350 Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317] MYORG Q6NSJ0 VAR_081965 p.Leu660Gln US rs1588002920 Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317] MYOT Q9UBF9 VAR_021569 p.Ser55Phe LP/P - Myopathy, myofibrillar, 3 (MFM3) [MIM:609200] MYOT Q9UBF9 VAR_021569 p.Ser55Phe LP/P - Myopathy, myofibrillar, 3 (MFM3) [MIM:609200] MYOT Q9UBF9 VAR_021570 p.Thr57Ile LP/P rs28937597 Myopathy, myofibrillar, 3 (MFM3) [MIM:609200] MYOT Q9UBF9 VAR_021571 p.Ser60Cys LP/P - Myopathy, myofibrillar, 3 (MFM3) [MIM:609200] MYOT Q9UBF9 VAR_021572 p.Ser60Phe LP/P - Myopathy, myofibrillar, 3 (MFM3) [MIM:609200] MYOT Q9UBF9 VAR_021573 p.Ser95Ile LP/P - Myopathy, myofibrillar, 3 (MFM3) [MIM:609200] MYOT Q9UBF9 VAR_029532 p.Ser39Phe LP/P - Myopathy, myofibrillar, 3 (MFM3) [MIM:609200] MYOT Q9UBF9 VAR_029533 p.Lys74Gln LB/B rs6890689 - MYOT Q9UBF9 VAR_035520 p.Ser33Ile US - A colorectal cancer sample MYOT Q9UBF9 VAR_049914 p.Gln50Arg LB/B rs34717730 - MYOZ2 Q9NPC6 VAR_065469 p.Ser48Pro LP/P rs199476398 Cardiomyopathy, familial hypertrophic, 16 (CMH16) [MIM:613838] MYOZ2 Q9NPC6 VAR_065470 p.Ile246Met LP/P rs140126678 Cardiomyopathy, familial hypertrophic, 16 (CMH16) [MIM:613838] MYOZ3 Q8TDC0 VAR_056203 p.Thr209Asn LB/B rs7737542 - MYOZ3 Q8TDC0 VAR_067718 p.Ser161Pro LB/B rs194134 - MYPN Q86TC9 VAR_026727 p.Ser691Asn LB/B rs10997975 - MYPN Q86TC9 VAR_026728 p.Ser707Asn LB/B rs7916821 - MYPN Q86TC9 VAR_026729 p.Ser803Arg LB/B rs3814182 - MYPN Q86TC9 VAR_049911 p.Val393Ala LB/B rs11596653 - MYPN Q86TC9 VAR_049912 p.Phe628Leu LB/B rs10823148 - MYPN Q86TC9 VAR_049913 p.Pro1135Thr LB/B rs7079481 - MYPN Q86TC9 VAR_069642 p.Tyr20Cys LP/P rs140148105 Cardiomyopathy, dilated, 1KK (CMD1KK) [MIM:615248] MYPN Q86TC9 VAR_069642 p.Tyr20Cys LP/P rs140148105 Cardiomyopathy, familial hypertrophic, 22 (CMH22) [MIM:615248] MYPN Q86TC9 VAR_069643 p.Lys153Arg LP/P rs199476401 Cardiomyopathy, familial hypertrophic, 22 (CMH22) [MIM:615248] MYPN Q86TC9 VAR_069644 p.Ile213Val LP/P rs199476402 Cardiomyopathy, dilated, 1KK (CMD1KK) [MIM:615248] MYPN Q86TC9 VAR_069645 p.Ala217Glu LP/P rs199476403 Cardiomyopathy, familial hypertrophic, 22 (CMH22) [MIM:615248] MYPN Q86TC9 VAR_069646 p.Tyr339Phe LP/P rs199476404 Cardiomyopathy, dilated, 1KK (CMD1KK) [MIM:615248] MYPN Q86TC9 VAR_069647 p.Val410Ala LP/P rs199476406 Cardiomyopathy, familial hypertrophic, 22 (CMH22) [MIM:615248] MYPN Q86TC9 VAR_069648 p.Glu467Lys LB/B rs74143030 - MYPN Q86TC9 VAR_069649 p.Ala611Thr LP/P rs199476409 Cardiomyopathy, dilated, 1KK (CMD1KK) [MIM:615248] MYPN Q86TC9 VAR_069650 p.Glu614Lys LB/B rs143338091 - MYPN Q86TC9 VAR_069651 p.Gly804Arg LB/B rs62620248 - MYPN Q86TC9 VAR_069652 p.Pro841Thr LP/P rs199476410 Cardiomyopathy, familial hypertrophic, 22 (CMH22) [MIM:615248] MYPN Q86TC9 VAR_069653 p.Ala882Thr LP/P rs199476411 Cardiomyopathy, dilated, 1KK (CMD1KK) [MIM:615248] MYPN Q86TC9 VAR_069654 p.Phe954Leu LP/P rs199476413 Cardiomyopathy, dilated, 1KK (CMD1KK) [MIM:615248] MYPN Q86TC9 VAR_069655 p.Arg955Gln LB/B rs199476414 - MYPN Q86TC9 VAR_069656 p.Arg955Trp US rs149887823 Cardiomyopathy, dilated, 1KK (CMD1KK) [MIM:615248] MYPN Q86TC9 VAR_069657 p.Pro961Leu LP/P rs864621995 Cardiomyopathy, dilated, 1KK (CMD1KK) [MIM:615248] MYPN Q86TC9 VAR_069658 p.Arg1088His LP/P rs71584501 Cardiomyopathy, dilated, 1KK (CMD1KK) [MIM:615248] MYPN Q86TC9 VAR_069659 p.Pro1112Leu LP/P rs71534278 Cardiomyopathy, dilated, 1KK (CMD1KK) [MIM:615248] MYPN Q86TC9 VAR_069659 p.Pro1112Leu LP/P rs71534278 Cardiomyopathy, familial hypertrophic, 22 (CMH22) [MIM:615248] MYPN Q86TC9 VAR_069660 p.Leu1161Ile LB/B rs138313730 - MYPN Q86TC9 VAR_069661 p.Val1195Met LP/P rs71534280 Cardiomyopathy, dilated, 1KK (CMD1KK) [MIM:615248] MYPN Q86TC9 VAR_069662 p.Ala1265Pro LP/P rs199476416 Cardiomyopathy, familial hypertrophic, 22 (CMH22) [MIM:615248] MYPN Q86TC9 VAR_069663 p.Val1306Gly LB/B rs199476417 - MYPN Q86TC9 VAR_074186 p.Asn698Ser LB/B rs181355189 - MYRF Q9Y2G1 VAR_038907 p.Ala723Thr LB/B rs34038946 - MYRF Q9Y2G1 VAR_081183 p.Gln403Arg LP/P rs1565295286 Encephalitis/encephalopathy, mild, with reversible myelin vacuolization (MMERV) [MIM:618113] MYRF Q9Y2G1 VAR_081884 p.Gly435Arg LP/P rs1565295550 Cardiac-urogenital syndrome (CUGS) [MIM:618280] MYRF Q9Y2G1 VAR_081886 p.Val679Ala US - Cardiac-urogenital syndrome (CUGS) [MIM:618280] MYRF Q9Y2G1 VAR_081887 p.Arg695His US rs1382225004 Cardiac-urogenital syndrome (CUGS) [MIM:618280] MYRFL Q96LU7 VAR_027780 p.Ala753Ser LB/B rs11177991 - MYRFL Q96LU7 VAR_033742 p.Ser723Leu LB/B rs35051828 - MYRFL Q96LU7 VAR_069018 p.Leu845Met LB/B rs10879065 - MYRIP Q8NFW9 VAR_051717 p.Pro673Ser LB/B rs34800524 - MYRIP Q8NFW9 VAR_061755 p.Ala312Thr LB/B rs59923220 - MYRIP Q8NFW9 VAR_061756 p.Pro365Leu LB/B rs55785561 - MYSM1 Q5VVJ2 VAR_051814 p.Cys200Ser LB/B rs17118103 - MYSM1 Q5VVJ2 VAR_051815 p.Thr264Ala LB/B rs12139511 - MYSM1 Q5VVJ2 VAR_051816 p.Glu825Lys LB/B rs232777 - MYSM1 Q5VVJ2 VAR_081185 p.His656Arg LP/P rs1557507208 Bone marrow failure syndrome 4 (BMFS4) [MIM:618116] MYZAP P0CAP1 VAR_055453 p.Ala277Val LB/B rs16977629 - MZF1 P28698 VAR_014826 p.Ile331Val LB/B rs4756 - MZF1 P28698 VAR_047677 p.Arg51His LB/B rs3752109 - MZF1 P28698 VAR_047678 p.Arg103His LB/B rs3752110 - MZF1 P28698 VAR_047679 p.Arg130Gln LB/B rs3752111 - MZF1 P28698 VAR_047680 p.Arg441Pro LB/B rs2229255 - MZT1 Q08AG7 VAR_043562 p.Ser5Gly LB/B rs1465896 - MZT2B Q6NZ67 VAR_043853 p.Ala118Val LB/B rs1043059 - MZT2B Q6NZ67 VAR_043854 p.Arg155Gln LB/B rs1043152 - N4BP2 Q86UW6 VAR_035474 p.Pro283Ala US - A breast cancer sample N4BP2 Q86UW6 VAR_051215 p.Ser101Ile LB/B rs17511668 - N4BP2 Q86UW6 VAR_051216 p.Met196Val LB/B rs10014170 - N4BP2 Q86UW6 VAR_051217 p.Asp611Asn LB/B rs794001 - N4BP2 Q86UW6 VAR_051218 p.Thr1587Ala LB/B rs2271395 - N4BP2L2 Q92802 VAR_034765 p.Tyr272His LB/B rs34062461 - N6AMT1 Q9Y5N5 VAR_060445 p.Asp34Asn LB/B rs1997607 - N6AMT1 Q9Y5N5 VAR_060446 p.Arg146Lys LB/B rs2205447 - N6AMT1 Q9Y5N5 VAR_060447 p.Arg166Lys LB/B rs2205446 - NAA10 P41227 VAR_066652 p.Ser37Pro LP/P rs387906701 N-terminal acetyltransferase deficiency (NATD) [MIM:300855] NAA10 P41227 VAR_075206 p.Tyr43Ser LP/P rs863225427 N-terminal acetyltransferase deficiency (NATD) [MIM:300855] NAA10 P41227 VAR_082604 p.Arg83His LP/P rs1603290366 N-terminal acetyltransferase deficiency (NATD) [MIM:300855] NAA11 Q9BSU3 VAR_048164 p.Ala6Thr LB/B rs3811765 - NAA11 Q9BSU3 VAR_048165 p.Leu19Phe LB/B rs17003712 - NAA15 Q9BXJ9 VAR_080535 p.Asp112Asn US rs889543097 Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities (MRD50) [MIM:617787] NAA15 Q9BXJ9 VAR_080537 p.Lys450Glu US rs1436993876 Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities (MRD50) [MIM:617787] NAA15 Q9BXJ9 VAR_080538 p.Ala475Val US rs202204424 Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities (MRD50) [MIM:617787] NAA16 Q6N069 VAR_052618 p.Glu344Gly LB/B rs17062054 - NAA20 P61599 VAR_086809 p.Met54Val LP/P rs2146464332 Intellectual developmental disorder, autosomal recessive 73 (MRT73) [MIM:619717] NAA20 P61599 VAR_086810 p.Ala80Val LP/P rs768029717 Intellectual developmental disorder, autosomal recessive 73 (MRT73) [MIM:619717] NAA20 P61599 VAR_088425 p.Leu4Pro LP/P rs752372862 Intellectual developmental disorder, autosomal recessive 73 (MRT73) [MIM:619717] NAA25 Q14CX7 VAR_033156 p.Lys876Arg LB/B rs12231744 - NAA25 Q14CX7 VAR_035872 p.Ser789Arg US - A breast cancer sample NAA25 Q14CX7 VAR_054099 p.Leu426Phe LB/B rs16941860 - NAA25 Q14CX7 VAR_054100 p.Leu915Ile LB/B rs12298022 - NAA60 Q9H7X0 VAR_060995 p.His218Gln LB/B rs34464545 - NAA80 Q93015 VAR_014224 p.Arg145Ser US - Non-small cell lung cancer cell lines NAA80 Q93015 VAR_014225 p.Thr207Ser US rs200439690 Non-small cell lung cancer cell lines NAAA Q02083 VAR_028428 p.Val151Ile LB/B rs4859571 - NAAA Q02083 VAR_048336 p.Asn107Lys LB/B rs34751328 - NAAA Q02083 VAR_048337 p.Phe334Leu LB/B rs6823734 - NAALAD2 Q9Y3Q0 VAR_034120 p.Val101Ile LB/B rs11018879 - NAALAD2 Q9Y3Q0 VAR_034121 p.Ile446Val LB/B rs10830430 - NAALADL1 Q9UQQ1 VAR_057155 p.Gln2His LB/B rs35422506 - NAALADL1 Q9UQQ1 VAR_057156 p.Lys398Thr LB/B rs12223986 - NAALADL1 Q9UQQ1 VAR_057157 p.Leu611Val LB/B rs36053340 - NAALADL2 Q58DX5 VAR_038288 p.Gly68Ser LB/B rs9823911 - NAALADL2 Q58DX5 VAR_038289 p.Ile128Met LB/B rs9836841 - NAALADL2 Q58DX5 VAR_038290 p.Met194Thr LB/B rs4371530 - NAALADL2 Q58DX5 VAR_038291 p.Pro385Ser LB/B rs6802937 - NAALADL2 Q58DX5 VAR_038292 p.Pro622Arg LB/B rs9866564 - NAALADL2 Q58DX5 VAR_038293 p.Leu677Ser LB/B rs9826737 - NABP1 Q96AH0 VAR_043340 p.Thr154Ser LB/B rs12612256 - NACA E9PAV3 VAR_070547 p.Val336Glu LB/B rs2958127 - NACA E9PAV3 VAR_070548 p.Phe405Ser LB/B rs2926743 - NACA E9PAV3 VAR_070549 p.Pro519Ser LB/B rs185561121 - NACA E9PAV3 VAR_070550 p.Ser1795Thr LB/B rs2926747 - NACA E9PAV3 VAR_070551 p.Leu1841Pro LB/B rs2958149 - NACA2 Q9H009 VAR_050218 p.Val64Ile LB/B rs17531723 - NACAD O15069 VAR_031195 p.Asp438Glu LB/B rs3735495 - NACAD O15069 VAR_031196 p.Val498Ala LB/B rs3735494 - NACAD O15069 VAR_031197 p.Lys591Glu LB/B rs7777835 - NACAD O15069 VAR_031198 p.Asp1105Glu LB/B rs10243185 - NACAD O15069 VAR_031199 p.Cys1152Phe LB/B rs3735493 - NACC1 Q96RE7 VAR_078808 p.Arg298Trp LP/P rs1060505041 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM) [MIM:617393] NADK O95544 VAR_034119 p.Asn262Lys LB/B rs4751 - NADSYN1 Q6IA69 VAR_026497 p.Val74Leu LB/B rs2276360 - NADSYN1 Q6IA69 VAR_056204 p.Pro297Leu LB/B rs7121106 - NADSYN1 Q6IA69 VAR_056205 p.Met591Ile LB/B rs35007971 - NADSYN1 Q6IA69 VAR_056206 p.Gly704Ser LB/B rs12282060 - NADSYN1 Q6IA69 VAR_058703 p.Gln204His LB/B rs7950441 - NADSYN1 Q6IA69 VAR_084040 p.Cys49Arg LP/P - Vertebral, cardiac, renal, and limb defects syndrome 3 (VCRL3) [MIM:618845] NADSYN1 Q6IA69 VAR_084041 p.Trp132Leu LP/P rs189928649 Vertebral, cardiac, renal, and limb defects syndrome 3 (VCRL3) [MIM:618845] NADSYN1 Q6IA69 VAR_084043 p.Ala573Thr LP/P rs144139747 Vertebral, cardiac, renal, and limb defects syndrome 3 (VCRL3) [MIM:618845] NAE1 Q13564 VAR_052435 p.Ser101Phe LB/B rs363212 - NAE1 Q13564 VAR_088123 p.Leu49Phe US - Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia (NEDFIH) [MIM:620210] NAE1 Q13564 VAR_088124 p.Arg85Gln US - Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia (NEDFIH) [MIM:620210] NAE1 Q13564 VAR_088125 p.Cys294Trp US - Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia (NEDFIH) [MIM:620210] NAE1 Q13564 VAR_088126 p.Arg430Gln US - Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia (NEDFIH) [MIM:620210] NAF1 Q96HR8 VAR_057795 p.Pro43Ser LB/B rs12331663 - NAF1 Q96HR8 VAR_063101 p.Ile162Val LB/B rs4691896 - NAGA P17050 VAR_000496 p.Ser160Cys LP/P rs121434532 Schindler disease (SCHIND) [MIM:609241] NAGA P17050 VAR_000497 p.Glu325Lys LP/P rs121434529 Schindler disease (SCHIND) [MIM:609241] NAGA P17050 VAR_000498 p.Arg329Trp LP/P rs121434530 Kanzaki disease (KANZD) [MIM:609242] NAGA P17050 VAR_022525 p.Arg329Gln LP/P rs121434533 Kanzaki disease (KANZD) [MIM:609242] NAGK Q9UJ70 VAR_029763 p.Trp38Arg LB/B rs17856147 - NAGK Q9UJ70 VAR_029764 p.Ala60Val LB/B rs17849984 - NAGLU P54802 VAR_005007 p.Tyr92His LP/P rs1555621454 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_005008 p.Pro115Ser LP/P rs758785463 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_005009 p.Tyr140Cys LP/P rs753520553 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_005010 p.Glu153Lys LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_005011 p.Pro358Leu LP/P rs368687817 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_005012 p.Arg643His LP/P rs104894593 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_005013 p.Ala664Val LP/P rs746006696 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_005014 p.Arg674His LP/P rs104894590 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_005015 p.Leu682Arg LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008979 p.Gly79Cys LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008980 p.His100Arg LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008982 p.Pro243Leu LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008983 p.Cys277Phe LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008984 p.Leu280Pro LP/P rs1392732615 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008985 p.Gly292Arg LP/P rs1358994052 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008986 p.Glu452Lys LP/P rs1183634153 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008987 p.Arg482Trp LP/P rs104894596 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008988 p.Leu561Arg LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008989 p.Arg565Gln LP/P rs104894598 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008990 p.Glu705Lys LP/P rs1364203992 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008991 p.Arg737Gly LB/B rs86312 - NAGLU P54802 VAR_025489 p.Phe48Leu LP/P rs104894599 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_025490 p.Phe314Leu LP/P rs104894600 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_025491 p.Pro521Leu LP/P rs104894595 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_025492 p.Arg565Pro LP/P rs104894598 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_025493 p.Arg565Trp LP/P rs104894597 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_025494 p.Arg643Cys LP/P rs104894594 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054699 p.Leu35Phe LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054700 p.Arg38Trp LP/P rs1460260015 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054701 p.Phe48Cys LP/P rs867910252 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054702 p.Gly69Ser LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054703 p.Val77Gly LP/P rs1599253805 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054704 p.Gly79Ser LP/P rs1276484671 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054705 p.Gly82Asp LP/P rs1599253815 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054706 p.Arg130Cys LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054707 p.Ile154Arg LP/P rs770684838 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054708 p.Trp156Cys LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054709 p.His227Pro LP/P rs747155746 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054710 p.Arg234Cys LP/P rs104894601 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054711 p.Val241Met LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054712 p.Leu242Pro LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054713 p.Ala246Pro LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054714 p.His248Arg LP/P rs1465855291 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054715 p.Trp268Arg LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054716 p.Tyr309Cys LP/P rs1305299665 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054717 p.Val334Phe LP/P rs749140168 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054718 p.Tyr335Cys LP/P rs768918822 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054719 p.Phe410Ser LP/P rs574688121 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054720 p.Gly412Glu LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054721 p.His414Arg LP/P rs768814260 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054722 p.Thr437Ile LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054723 p.Glu446Lys LP/P rs114625063 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054724 p.Tyr455Cys LP/P rs375103824 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054725 p.Trp474Gly LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054726 p.Arg482Gln LP/P rs200909691 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054727 p.Val501Gly LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054728 p.Pro516Leu LP/P rs773054539 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054729 p.Arg520Trp LP/P rs992677795 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054730 p.Ser534Tyr LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054731 p.Leu560Pro LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054732 p.Leu591Pro LP/P rs1215582852 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054733 p.Ser612Gly LP/P rs148881970 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054734 p.Leu617Phe LP/P rs1555622482 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054735 p.Trp649Cys LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054736 p.Gly650Glu LP/P rs527236037 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054737 p.Tyr658Phe LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054738 p.Arg674Cys LP/P rs763299645 Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054739 p.Arg676Pro LP/P - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_074607 p.Ile403Thr LP/P rs796052122 Charcot-Marie-Tooth disease, axonal, 2V (CMT2V) [MIM:616491] NAGLU P54802 VAR_079425 p.Leu550Pro US - Mucopolysaccharidosis 3B (MPS3B) [MIM:252920] NAGPA Q9UK23 VAR_020609 p.Thr465Ile LB/B rs7188856 - NAGPA Q9UK23 VAR_073225 p.His84Gln US rs755458782 - NAGPA Q9UK23 VAR_073226 p.Arg328Cys US rs139526942 - NAGS Q8N159 VAR_023505 p.Cys200Arg LP/P rs1188223411 N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_023506 p.Ala279Pro LP/P - N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_023507 p.Ser410Pro LP/P - N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_023508 p.Leu430Pro LP/P rs104894605 N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_023509 p.Trp484Arg LP/P rs104894606 N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_023510 p.Ala518Thr LP/P rs745511282 N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_077329 p.Met167Val US rs760267963 N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_077330 p.Pro260Leu US - N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_077331 p.Thr264Met US rs1251891037 N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_077332 p.Ile291Asn US - N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_077333 p.Leu391Arg US - N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_077334 p.Ser398Cys US rs1312599995 N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_077335 p.Gly457Asp US rs1204011876 N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_077336 p.Tyr512Cys US rs752415489 N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAIP Q13075 VAR_026477 p.Val535Met LB/B rs1423904967 - NALCN Q8IZF0 VAR_070599 p.Trp1287Leu LP/P rs587777068 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (IHPRF1) [MIM:615419] NALCN Q8IZF0 VAR_073361 p.Gln177Pro LP/P rs786203984 Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266] NALCN Q8IZF0 VAR_073362 p.Leu312Ile LP/P rs878853134 Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266] NALCN Q8IZF0 VAR_073363 p.Val313Gly LP/P rs786203985 Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266] NALCN Q8IZF0 VAR_073364 p.Leu509Ser LP/P rs786203987 Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266] NALCN Q8IZF0 VAR_073364 p.Leu509Ser LP/P rs786203987 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (IHPRF1) [MIM:615419] NALCN Q8IZF0 VAR_073365 p.Tyr578Ser LP/P rs786203988 Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266] NALCN Q8IZF0 VAR_073365 p.Tyr578Ser LP/P rs786203988 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (IHPRF1) [MIM:615419] NALCN Q8IZF0 VAR_073366 p.Leu590Phe LP/P rs786203986 Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266] NALCN Q8IZF0 VAR_073367 p.Thr1165Pro LP/P rs878853128 Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266] NALCN Q8IZF0 VAR_073368 p.Ile1446Met LP/P rs878853127 Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266] NALCN Q8IZF0 VAR_076674 p.Leu312Val US - - NALCN Q8IZF0 VAR_076675 p.Phe317Cys US rs1594616249 - NALCN Q8IZF0 VAR_076676 p.Val595Phe US rs1594368753 - NALCN Q8IZF0 VAR_076677 p.Val1020Phe US - - NALCN Q8IZF0 VAR_076678 p.Arg1181Gln US rs786201003 Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266] NALF2 O75949 VAR_043975 p.Leu172Pro LB/B rs1171942 - NAMPT P43490 VAR_036614 p.Leu176Ser US - A colorectal cancer sample NANOG Q9H9S0 VAR_029384 p.Lys82Asn LB/B rs2889551 - NANOGP8 Q6NSW7 VAR_080142 p.Cys13Arg LB/B - - NANOGP8 Q6NSW7 VAR_080143 p.Glu16Ala LB/B rs2004079 - NANOGP8 Q6NSW7 VAR_080144 p.Ser37Pro LB/B - - NANOGP8 Q6NSW7 VAR_080145 p.Asp64Tyr LB/B rs2257251 - NANOGP8 Q6NSW7 VAR_080146 p.Ser68Tyr LB/B rs146363687 - NANOGP8 Q6NSW7 VAR_080147 p.Gln96Arg LB/B - - NANOGP8 Q6NSW7 VAR_080148 p.Leu107Pro LB/B rs1012377776 - NANOGP8 Q6NSW7 VAR_080149 p.Glu127Gly LB/B - - NANOGP8 Q6NSW7 VAR_080150 p.Gln146Arg LB/B - - NANOGP8 Q6NSW7 VAR_080151 p.Ser207Gly LB/B - - NANOGP8 Q6NSW7 VAR_080152 p.Asn208Ser LB/B - - NANOGP8 Q6NSW7 VAR_080153 p.Thr210Ile LB/B rs9944179 - NANOGP8 Q6NSW7 VAR_080154 p.Asn218Ser LB/B - - NANOGP8 Q6NSW7 VAR_080155 p.Asp262Gly LB/B rs1326719179 - NANOGP8 Q6NSW7 VAR_080156 p.Gln301Arg LB/B - - NANOS1 Q8WY41 VAR_070569 p.Pro34Thr LB/B rs191267549 - NANOS1 Q8WY41 VAR_070572 p.Arg246His US rs587777767 - NANOS1 Q8WY41 VAR_070573 p.Arg276Tyr US rs587777768 - NANOS2 P60321 VAR_065246 p.His68Gln LB/B rs148451980 - NANS Q9NR45 VAR_013308 p.Glu68Asp LB/B rs1058446 - NANS Q9NR45 VAR_076571 p.His29Asn LP/P rs1277263564 Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442] NANS Q9NR45 VAR_076572 p.Gly133Val LP/P rs878852980 Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442] NANS Q9NR45 VAR_076573 p.Arg151His LP/P rs140402727 Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442] NANS Q9NR45 VAR_076574 p.Tyr188His LP/P rs878852981 Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442] NANS Q9NR45 VAR_076575 p.Pro189Leu LP/P rs1024025721 Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442] NANS Q9NR45 VAR_076576 p.Arg237Cys LP/P rs878852982 Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442] NAP1L3 Q99457 VAR_024545 p.Pro224Ala LB/B rs1045686 - NAP1L5 Q96NT1 VAR_050227 p.Glu154Gln LB/B rs13109442 - NAPB Q9H115 VAR_052026 p.Ala61Thr LB/B rs6036399 - NAPEPLD Q6IQ20 VAR_038694 p.Asp389Asn LB/B rs3181009 - NAPEPLD Q6IQ20 VAR_038695 p.Ser152Ala LB/B rs12540583 - NAPG Q99747 VAR_020129 p.Lys281Asn LB/B rs2305370 - NAPG Q99747 VAR_052027 p.Pro92Ser LB/B rs2228300 - NAPRT Q6XQN6 VAR_038275 p.Ala57Val LB/B rs896950 - NAPSA O96009 VAR_024586 p.Ala310Thr LB/B rs11670727 - NAPSA O96009 VAR_051510 p.Ile40Thr LB/B rs676314 - NARS1 O43776 VAR_085100 p.Arg11Pro US rs771435243 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG) [MIM:619091] NARS1 O43776 VAR_085101 p.Thr17Met LP/P rs148893823 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG) [MIM:619091] NARS1 O43776 VAR_085102 p.Lys60Glu US - Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG) [MIM:619091] NARS1 O43776 VAR_085104 p.Gly132Cys US rs1402942713 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG) [MIM:619091] NARS1 O43776 VAR_085105 p.Arg322Leu LP/P - Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG) [MIM:619092] NARS1 O43776 VAR_085106 p.Leu350Pro US - Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG) [MIM:619091] NARS1 O43776 VAR_085107 p.Asp356Ala LP/P rs138016359 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG) [MIM:619091] NARS1 O43776 VAR_085108 p.Ala422Thr US rs769070609 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG) [MIM:619091] NARS1 O43776 VAR_085109 p.Thr459Ile US rs774597440 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG) [MIM:619091] NARS1 O43776 VAR_085110 p.Gly509Ser US - Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG) [MIM:619092] NARS1 O43776 VAR_085112 p.Arg545Cys LP/P rs770931044 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG) [MIM:619091] NARS2 Q96I59 VAR_052636 p.Asn87Thr LB/B rs10501429 - NARS2 Q96I59 VAR_073250 p.Pro214Leu LP/P rs730882155 Combined oxidative phosphorylation deficiency 24 (COXPD24) [MIM:616239] NARS2 Q96I59 VAR_073723 p.Val213Phe LP/P rs756725793 Deafness, autosomal recessive, 94 (DFNB94) [MIM:618434] NARS2 Q96I59 VAR_073724 p.Asn381Ser LP/P rs1565216037 Combined oxidative phosphorylation deficiency 24 (COXPD24) [MIM:616239] NARS2 Q96I59 VAR_086708 p.Asn381Asp US - Combined oxidative phosphorylation deficiency 24 (COXPD24) [MIM:616239] NARS2 Q96I59 VAR_086709 p.Trp430Cys US - Combined oxidative phosphorylation deficiency 24 (COXPD24) [MIM:616239] NASP P49321 VAR_052619 p.Val620Gly LB/B rs34618000 - NAT1 P18440 VAR_004606 p.Arg64Trp LB/B rs56379106 - NAT1 P18440 VAR_004607 p.Val149Ile LB/B rs4987076 - NAT1 P18440 VAR_009069 p.Arg187Gln LB/B rs4986782 - NAT1 P18440 VAR_009070 p.Met205Val LB/B rs72554609 - NAT1 P18440 VAR_009071 p.Ser214Ala LB/B rs4986783 - NAT1 P18440 VAR_009072 p.Asp251Val LB/B rs56172717 - NAT1 P18440 VAR_009073 p.Glu261Lys LB/B rs72554610 - NAT1 P18440 VAR_009074 p.Ile263Val LB/B rs72554611 - NAT1 P18440 VAR_009510 p.Arg117Thr LB/B rs55641436 - NAT1 P18440 VAR_020384 p.Thr207Ile LB/B rs4987195 - NAT10 Q9H0A0 VAR_059858 p.Tyr461His LB/B rs2957516 - NAT10 Q9H0A0 VAR_061894 p.Ala983Thr LB/B rs36006049 - NAT16 Q8N8M0 VAR_036903 p.Phe63Ser LB/B rs34985488 - NAT2 P11245 VAR_004608 p.Arg64Gln LB/B rs1801279 - NAT2 P11245 VAR_004609 p.Ile114Thr LB/B rs1801280 - NAT2 P11245 VAR_004610 p.Arg197Gln LB/B rs1799930 - NAT2 P11245 VAR_004611 p.Arg268Lys LB/B rs1208 - NAT2 P11245 VAR_004612 p.Gly286Glu LB/B rs1799931 - NAT2 P11245 VAR_009075 p.Arg64Trp LB/B rs1805158 - NAT2 P11245 VAR_009076 p.Gln145Pro LB/B rs72554616 - NAT2 P11245 VAR_009077 p.Lys282Thr LB/B rs56054745 - NAT2 P11245 VAR_018853 p.Leu24Ile LB/B rs45477599 - NAT2 P11245 VAR_018854 p.Pro228Leu LB/B rs45518335 - NAT2 P11245 VAR_020385 p.Asp122Asn LB/B rs4986996 - NAT2 P11245 VAR_020386 p.Leu137Phe LB/B rs4986997 - NAT2 P11245 VAR_028781 p.Thr193Met LB/B rs79050330 - NAT2 P11245 VAR_028782 p.Tyr208His LB/B rs56387565 - NAT2 P11245 VAR_046905 p.Leu135Val LB/B rs12720065 - NAT2 P11245 VAR_061368 p.Val280Met LB/B rs56393504 - NAT8 Q9UHE5 VAR_031805 p.Phe143Ser LB/B rs13538 - NAT8 Q9UHE5 VAR_053886 p.Glu104Lys LB/B rs13424561 - NAT9 Q9BTE0 VAR_032225 p.Cys56Arg LB/B rs2305213 - NATD1 Q8N6N6 VAR_062227 p.Val42Ile LB/B rs12449311 - NAV1 Q8NEY1 VAR_032245 p.Gln937His LB/B rs16849342 - NAV1 Q8NEY1 VAR_032246 p.Ser1273Leu LB/B rs2820289 - NAV1 Q8NEY1 VAR_032247 p.His1290Asp LB/B rs2292822 - NAV1 Q8NEY1 VAR_032248 p.Val1527Ile LB/B rs16849379 - NAV2 Q8IVL1 VAR_029640 p.Arg109Lys LB/B rs6483617 - NAV2 Q8IVL1 VAR_029641 p.Gln491His LB/B rs16937251 - NAV2 Q8IVL1 VAR_029642 p.Glu1041Asp LB/B rs3802799 - NAV2 Q8IVL1 VAR_029643 p.Pro1077Ala LB/B rs3802800 - NAV2 Q8IVL1 VAR_032252 p.Val2374Ile LB/B rs35891966 - NAV3 Q8IVL0 VAR_032249 p.Thr45Ala LB/B rs10735309 - NAV3 Q8IVL0 VAR_032250 p.Ser210Trp LB/B rs34195711 - NAV3 Q8IVL0 VAR_032251 p.Glu2200Lys US - - NAXD Q8IW45 VAR_043564 p.Lys140Glu LB/B rs3742191 - NAXD Q8IW45 VAR_043565 p.Val149Ile LB/B rs3742192 - NAXD Q8IW45 VAR_043566 p.Pro152Thr LB/B rs1044112 - NAXD Q8IW45 VAR_082224 p.Gly81Ser LP/P rs1566614549 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (PEBEL2) [MIM:618321] NAXD Q8IW45 VAR_082225 p.Arg326Cys LP/P rs767778853 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (PEBEL2) [MIM:618321] NAXE Q8NCW5 VAR_032992 p.Val19Leu LB/B rs7516274 - NAXE Q8NCW5 VAR_077991 p.Ala94Asp LP/P rs879255647 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 (PEBEL1) [MIM:617186] NAXE Q8NCW5 VAR_077992 p.Asp218Val LP/P rs886041064 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 (PEBEL1) [MIM:617186] NBAS A2RRP1 VAR_057611 p.Ile243Val LB/B rs13029846 - NBAS A2RRP1 VAR_057612 p.Lys655Arg LB/B rs4668909 - NBAS A2RRP1 VAR_057613 p.Arg1004Gln LB/B rs16862653 - NBAS A2RRP1 VAR_057614 p.Ser1178Asn LB/B rs35770368 - NBAS A2RRP1 VAR_057615 p.Ala2074Thr LB/B rs6710817 - NBAS A2RRP1 VAR_068954 p.Gln44Glu LB/B rs77081203 - NBAS A2RRP1 VAR_068955 p.Val949Leu LB/B rs74727069 - NBAS A2RRP1 VAR_068956 p.Cys1009Ser LB/B rs74411619 - NBAS A2RRP1 VAR_068957 p.Arg1914His US rs369698072 Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH) [MIM:614800] NBAS A2RRP1 VAR_074643 p.Ala95Val US - - NBAS A2RRP1 VAR_074644 p.Arg137Trp LB/B rs368085185 - NBAS A2RRP1 VAR_074647 p.Pro348Ser LP/P - Infantile liver failure syndrome 2 (ILFS2) [MIM:616483] NBAS A2RRP1 VAR_074648 p.Trp396Arg US - - NBAS A2RRP1 VAR_074649 p.Pro777His LP/P - Infantile liver failure syndrome 2 (ILFS2) [MIM:616483] NBAS A2RRP1 VAR_074650 p.Val842Phe LP/P rs1085307944 Infantile liver failure syndrome 2 (ILFS2) [MIM:616483] NBAS A2RRP1 VAR_074651 p.Leu903Arg US rs368196005 Infantile liver failure syndrome 2 (ILFS2) [MIM:616483] NBAS A2RRP1 VAR_074652 p.Ile984Ser LP/P rs140841721 Infantile liver failure syndrome 2 (ILFS2) [MIM:616483] NBAS A2RRP1 VAR_074653 p.Leu1055Pro LP/P rs796052121 Infantile liver failure syndrome 2 (ILFS2) [MIM:616483] NBAS A2RRP1 VAR_085213 p.His227Pro US rs748880753 Infantile liver failure syndrome 2 (ILFS2) [MIM:616483] NBAS A2RRP1 VAR_085217 p.Glu803Lys US rs781408707 Infantile liver failure syndrome 2 (ILFS2) [MIM:616483] NBAS A2RRP1 VAR_085218 p.Arg941His US rs781766556 Infantile liver failure syndrome 2 (ILFS2) [MIM:616483] NBAS A2RRP1 VAR_085220 p.Cys1199Tyr US rs779982692 Infantile liver failure syndrome 2 (ILFS2) [MIM:616483] NBEA Q8NFP9 VAR_047658 p.Ala569Pro LB/B rs5011295 - NBEA Q8NFP9 VAR_047659 p.Ile2501Val LB/B rs11538677 - NBEA Q8NFP9 VAR_085276 p.Ala483Val LP/P - Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) [MIM:619157] NBEA Q8NFP9 VAR_085279 p.Pro1332Ser LP/P - Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) [MIM:619157] NBEA Q8NFP9 VAR_085286 p.Glu2801Lys LP/P - Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) [MIM:619157] NBEA Q8NFP9 VAR_085366 p.His946Tyr LP/P rs869312667 Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) [MIM:619157] NBEAL2 Q6ZNJ1 VAR_043133 p.Arg447His LB/B rs17079425 - NBEAL2 Q6ZNJ1 VAR_043134 p.Arg511Gly LB/B rs11720139 - NBEAL2 Q6ZNJ1 VAR_043135 p.Ala1877Gly LB/B rs4682830 - NBEAL2 Q6ZNJ1 VAR_043136 p.Ser2054Phe LB/B rs2305637 - NBEAL2 Q6ZNJ1 VAR_043137 p.Glu2747Lys LB/B rs12893 - NBEAL2 Q6ZNJ1 VAR_066975 p.Ile86Val LB/B rs754407148 - NBEAL2 Q6ZNJ1 VAR_066976 p.Leu388Pro LP/P rs387907113 Gray platelet syndrome (GPS) [MIM:139090] NBEAL2 Q6ZNJ1 VAR_066977 p.Glu643Val LP/P rs387907114 Gray platelet syndrome (GPS) [MIM:139090] NBEAL2 Q6ZNJ1 VAR_066978 p.Trp677Arg LP/P - Gray platelet syndrome (GPS) [MIM:139090] NBEAL2 Q6ZNJ1 VAR_066979 p.Ile682Phe LB/B rs773164015 - NBEAL2 Q6ZNJ1 VAR_066980 p.Glu1833Lys LP/P rs1341020147 Gray platelet syndrome (GPS) [MIM:139090] NBEAL2 Q6ZNJ1 VAR_066981 p.Arg1839Cys LP/P rs750160418 Gray platelet syndrome (GPS) [MIM:139090] NBEAL2 Q6ZNJ1 VAR_066982 p.Pro2100Leu LP/P rs387907115 Gray platelet syndrome (GPS) [MIM:139090] NBEAL2 Q6ZNJ1 VAR_066983 p.His2263Tyr LP/P rs1357067113 Gray platelet syndrome (GPS) [MIM:139090] NBEAL2 Q6ZNJ1 VAR_066984 p.Ser2269Leu LP/P rs749896920 Gray platelet syndrome (GPS) [MIM:139090] NBEAL2 Q6ZNJ1 VAR_066985 p.Gly2553Glu LB/B rs144664865 - NBEAP1 P0C6P0 VAR_039648 p.Val33Ala LB/B rs6422240 - NBEAP1 P0C6P0 VAR_039649 p.Thr54Ile LB/B rs6422239 - NBEAP1 P0C6P0 VAR_039650 p.Cys81Arg LB/B rs7497658 - NBN O60934 VAR_025792 p.Ser93Leu US rs12721593 Some childhood acute lymphoblastic leukemia patients NBN O60934 VAR_025793 p.Asp95Asn US rs61753720 Some childhood acute lymphoblastic leukemia patients NBN O60934 VAR_025794 p.Lys105Asn LB/B rs13312858 - NBN O60934 VAR_025795 p.Leu150Phe LP/P rs773119929 Breast cancer (BC) [MIM:114480] NBN O60934 VAR_025796 p.Ile171Val US rs61754966 Some childhood acute lymphoblastic leukemia patients NBN O60934 VAR_025797 p.Glu185Gln LB/B rs1805794 - NBN O60934 VAR_025798 p.Val210Phe LB/B rs61754796 - NBN O60934 VAR_025799 p.Arg215Trp LB/B rs34767364 - NBN O60934 VAR_025800 p.Gln216Lys LB/B rs769416 - NBN O60934 VAR_025801 p.Pro266Leu LB/B rs769420 - NBN O60934 VAR_025802 p.Thr497Ala LB/B rs3026268 - NBN O60934 VAR_025803 p.Leu574Ile LB/B rs142334798 - NBN O60934 VAR_051226 p.Asn142Ser LB/B rs769414 - NBN O60934 VAR_051227 p.Lys408Glu LB/B rs34120922 - NBN O60934 VAR_064738 p.Tyr679His US - - NBPF1 Q3BBV0 VAR_032364 p.Ile20Met LB/B rs9730080 - NBPF1 Q3BBV0 VAR_032365 p.Asn31Lys LB/B rs9730077 - NBPF1 Q3BBV0 VAR_032366 p.Ala510Thr LB/B rs681623 - NBPF1 Q3BBV0 VAR_032367 p.Cys591Gly LB/B rs3738661 - NBPF1 Q3BBV0 VAR_032368 p.Met612Val LB/B rs672812 - NBPF1 Q3BBV0 VAR_032369 p.Cys663Arg LB/B rs28453011 - NBPF1 Q3BBV0 VAR_032370 p.Asp712His LB/B rs3901680 - NBPF1 Q3BBV0 VAR_032371 p.Lys726Glu LB/B rs3901679 - NBPF1 Q3BBV0 VAR_032372 p.Pro734Gln LB/B rs9727080 - NBPF1 Q3BBV0 VAR_032373 p.Lys850Gln LB/B - - NBPF14 Q5TI25 VAR_032381 p.Ser243Gly LB/B rs3871941 - NBPF15 Q8N660 VAR_032383 p.Pro615Gln LB/B rs6695216 - NBPF3 Q9H094 VAR_032374 p.Tyr114Cys LB/B rs1827293 - NBPF3 Q9H094 VAR_032375 p.Leu459Val LB/B rs12034222 - NBPF3 Q9H094 VAR_047965 p.Asp444Glu LB/B rs12043777 - NBPF3 Q9H094 VAR_053909 p.Arg198Gln LB/B rs16825377 - NBPF7P P0C2Y1 VAR_032376 p.Glu170Asp LB/B rs6678923 - NBR1 Q14596 VAR_016106 p.His923Arg LB/B rs8482 - NCAM1 P13591 VAR_049960 p.Asp260Asn LB/B rs17115160 - NCAM1 P13591 VAR_049961 p.Glu679Asp LB/B rs17115280 - NCAM1 P13591 VAR_049962 p.Thr834Met LB/B rs17174409 - NCAM1 P13591 VAR_061331 p.Leu7Phe LB/B rs7105734 - NCAM2 O15394 VAR_047897 p.Asp347Asn LB/B rs35654962 - NCAM2 O15394 VAR_047898 p.Leu350Pro LB/B rs232518 - NCAN O14594 VAR_016176 p.Ala1254Val LB/B rs1064389 - NCAN O14594 VAR_020213 p.Pro92Ser LB/B rs2228603 - NCAN O14594 VAR_024521 p.Ala70Thr LB/B rs2228601 - NCAPD2 Q15021 VAR_024421 p.Gln83Glu LB/B rs714774 - NCAPD2 Q15021 VAR_024422 p.Val797Met LB/B rs10849482 - NCAPD2 Q15021 VAR_057511 p.Lys580Arg LB/B rs17725914 - NCAPD2 Q15021 VAR_058713 p.Thr1321Ser LB/B rs2240871 - NCAPD2 Q15021 VAR_080953 p.Phe8Ser US - Microcephaly 21, primary, autosomal recessive (MCPH21) [MIM:617983] NCAPD3 P42695 VAR_053043 p.Arg622Gln LB/B rs12292394 - NCAPD3 P42695 VAR_053044 p.Pro907Thr LB/B rs34739733 - NCAPD3 P42695 VAR_053045 p.Ser1034Arg LB/B rs7927108 - NCAPD3 P42695 VAR_080955 p.Glu1153Ala LP/P rs1350194762 Microcephaly 22, primary, autosomal recessive (MCPH22) [MIM:617984] NCAPG Q9BPX3 VAR_036125 p.Met265Thr US - A colorectal cancer sample NCAPG Q9BPX3 VAR_053041 p.Ala64Pro LB/B rs35722563 - NCAPG Q9BPX3 VAR_053042 p.Met581Ile LB/B rs3795243 - NCAPG2 Q86XI2 VAR_053046 p.Thr794Met LB/B rs10248318 - NCAPG2 Q86XI2 VAR_053047 p.Glu867Asp LB/B rs3214000 - NCAPG2 Q86XI2 VAR_083028 p.Lys609Glu LP/P rs1299537743 Khan-Khan-Katsanis syndrome (3KS) [MIM:618460] NCAPG2 Q86XI2 VAR_083029 p.Thr693Met LP/P rs772209292 Khan-Khan-Katsanis syndrome (3KS) [MIM:618460] NCAPG2 Q86XI2 VAR_083030 p.Thr850Pro LP/P rs1563515856 Khan-Khan-Katsanis syndrome (3KS) [MIM:618460] NCAPH Q15003 VAR_027882 p.Val539Ala LB/B rs2305935 - NCAPH Q15003 VAR_080954 p.Pro243Leu LP/P rs1553446603 Microcephaly 23, primary, autosomal recessive (MCPH23) [MIM:617985] NCDN Q9UBB6 VAR_039849 p.Val392Glu US rs753974779 A colorectal cancer sample NCDN Q9UBB6 VAR_039850 p.Val392Leu US - A colorectal cancer sample NCDN Q9UBB6 VAR_085876 p.Glu433Gln US - Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) [MIM:619373] NCDN Q9UBB6 VAR_085877 p.Arg478Gln LP/P - Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) [MIM:619373] NCDN Q9UBB6 VAR_085878 p.Trp498Arg LP/P - Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) [MIM:619373] NCDN Q9UBB6 VAR_085879 p.Pro652Leu LP/P - Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) [MIM:619373] NCEH1 Q6PIU2 VAR_047099 p.Val19Phe LB/B rs35316420 - NCEH1 Q6PIU2 VAR_047100 p.Lys71Gln LB/B rs2302815 - NCEH1 Q6PIU2 VAR_047101 p.Leu343Met LB/B rs17857335 - NCF1 P14598 VAR_012476 p.Arg42Gln LP/P rs119103270 Granulomatous disease, chronic, autosomal recessive, 1 (CGD1) [MIM:233700] NCF1 P14598 VAR_012477 p.Thr160Ser LB/B - - NCF1 P14598 VAR_012478 p.Asn166Asp LB/B rs782555266 - NCF1 P14598 VAR_012479 p.Gly262Ser LB/B rs1489201208 - NCF1 P14598 VAR_012480 p.Ala308Val LB/B rs13739 - NCF1 P14598 VAR_014735 p.Arg90His LB/B rs13447 - NCF1 P14598 VAR_018476 p.Lys258Glu LB/B - - NCF1 P14598 VAR_018479 p.Ser99Gly LB/B rs10614 - NCF2 P19878 VAR_008904 p.Gly78Glu LP/P rs137854519 Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_008905 p.Arg395Trp LB/B rs13306575 - NCF2 P19878 VAR_017388 p.Arg77Gln LP/P rs119103275 Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_017389 p.Ala128Val LP/P rs119103274 Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_018477 p.Lys181Arg LB/B rs2274064 - NCF2 P19878 VAR_018478 p.Arg328Lys LB/B rs137854511 - NCF2 P19878 VAR_034129 p.Thr279Met LB/B rs13306581 - NCF2 P19878 VAR_034130 p.Val297Ala LB/B rs35937854 - NCF2 P19878 VAR_052620 p.His389Gln LB/B rs17849502 - NCF2 P19878 VAR_052621 p.Asn419Ile LB/B rs35012521 - NCF2 P19878 VAR_065002 p.Asn42Ser LP/P rs137854514 Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065003 p.Gly44Cys LP/P rs137854510 Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065004 p.Gly44Arg LP/P rs137854510 Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065006 p.Met79Val LB/B rs137854512 - NCF2 P19878 VAR_065007 p.Asp93Glu LP/P rs137854507 Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065009 p.Arg102Pro LP/P rs137854515 Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065010 p.Asp108Val LP/P rs137854509 Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065011 p.Trp137Arg LP/P rs137854516 Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065012 p.Ala140Asp LP/P rs137854520 Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065013 p.Gln169Glu LP/P rs137854517 Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065014 p.Arg184Pro LP/P rs137854518 Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065016 p.Ala202Val LP/P rs137854508 Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065017 p.Gly369Arg LB/B rs137854513 - NCF4 Q15080 VAR_009314 p.Leu147Ile LB/B - - NCF4 Q15080 VAR_034136 p.Arg153His LB/B rs35160112 - NCF4 Q15080 VAR_065949 p.Arg105Gln LP/P rs387906808 Granulomatous disease, chronic, autosomal recessive, 3 (CGD3) [MIM:613960] NCK1 P16333 VAR_051228 p.Ala180Val LB/B rs13320485 - NCKAP1L P55160 VAR_049344 p.Ser402Leu LB/B rs2270581 - NCKAP1L P55160 VAR_059316 p.Thr391Ala LB/B rs7311877 - NCKAP1L P55160 VAR_084644 p.Arg258Leu LP/P rs1956891911 Immunodeficiency 72 with autoinflammation and lymphoproliferation (IMD72) [MIM:618982] NCKAP1L P55160 VAR_084645 p.Pro359Leu LP/P rs770633648 Immunodeficiency 72 with autoinflammation and lymphoproliferation (IMD72) [MIM:618982] NCKAP1L P55160 VAR_084646 p.Met371Val LP/P rs750982844 Immunodeficiency 72 with autoinflammation and lymphoproliferation (IMD72) [MIM:618982] NCKAP1L P55160 VAR_084647 p.Val519Leu LP/P rs1956961224 Immunodeficiency 72 with autoinflammation and lymphoproliferation (IMD72) [MIM:618982] NCKAP5 O14513 VAR_051220 p.Ser600Thr LB/B rs17325719 - NCKAP5 O14513 VAR_051221 p.Val937Ile LB/B rs12611515 - NCKAP5 O14513 VAR_051222 p.Ile977Thr LB/B rs12691830 - NCKAP5 O14513 VAR_051223 p.Asn1093Tyr LB/B rs16841277 - NCKAP5 O14513 VAR_051224 p.Pro1260Gln LB/B rs13016342 - NCKAP5 O14513 VAR_051225 p.Val1403Ala LB/B rs2278752 - NCKAP5 O14513 VAR_061686 p.Arg250Gln LB/B rs58963837 - NCKIPSD Q9NZQ3 VAR_051378 p.Thr324Ser LB/B rs6785620 - NCKIPSD Q9NZQ3 VAR_063400 p.Tyr660Ser LB/B rs17855516 - NCL P19338 VAR_046353 p.Pro68Leu LB/B rs11542691 - NCL P19338 VAR_046354 p.Pro122Leu LB/B rs11542687 - NCL P19338 VAR_046355 p.Ala174Val LB/B rs11542689 - NCLN Q969V3 VAR_022552 p.Lys551Arg LB/B rs2288949 - NCLN Q969V3 VAR_050276 p.Glu214Asp LB/B rs11671067 - NCOA1 Q15788 VAR_019768 p.Gln457Lys LB/B rs1049015 - NCOA1 Q15788 VAR_019769 p.Asn466Lys LB/B rs1049016 - NCOA1 Q15788 VAR_019770 p.Ser474Pro LB/B rs1049018 - NCOA1 Q15788 VAR_019771 p.Ile591Thr LB/B rs1049020 - NCOA1 Q15788 VAR_019772 p.Glu685Ala LB/B rs1049021 - NCOA1 Q15788 VAR_019773 p.Pro794Ala LB/B rs1049025 - NCOA1 Q15788 VAR_019774 p.Ser999Phe LB/B rs1049032 - NCOA1 Q15788 VAR_019775 p.Met1154Thr LB/B rs1049038 - NCOA1 Q15788 VAR_034882 p.Pro1272Ser LB/B rs1804645 - NCOA1 Q15788 VAR_038832 p.Val1238Ile LB/B rs56099330 - NCOA2 Q15596 VAR_024546 p.Met1282Ile LB/B rs2228591 - NCOA3 Q9Y6Q9 VAR_013831 p.Gly460Arg LB/B rs1052765 - NCOA3 Q9Y6Q9 VAR_013832 p.Pro559Ser LB/B rs2230781 - NCOA3 Q9Y6Q9 VAR_013833 p.Gln586His LB/B rs2230782 - NCOA3 Q9Y6Q9 VAR_053527 p.Arg218Cys LB/B rs6094752 - NCOA3 Q9Y6Q9 VAR_053528 p.Leu369Phe LB/B rs6094756 - NCOA3 Q9Y6Q9 VAR_053529 p.Ser777Ala LB/B rs2230783 - NCOA3 Q9Y6Q9 VAR_060695 p.Arg220Ile LB/B rs72645252 - NCOA3 Q9Y6Q9 VAR_060696 p.Ile556Val LB/B rs72645272 - NCOA3 Q9Y6Q9 VAR_060697 p.Met1247Lys LB/B rs72645299 - NCOA3 Q9Y6Q9 VAR_060698 p.Met1247Leu LB/B rs72645298 - NCOA4 Q13772 VAR_009190 p.Ser94Leu LB/B rs782517064 - NCOA4 Q13772 VAR_009191 p.Phe154Leu LB/B - - NCOA4 Q13772 VAR_009192 p.Cys350Arg LB/B - - NCOA4 Q13772 VAR_009193 p.Leu561Pro LB/B - - NCOA4 Q13772 VAR_014928 p.Pro474Arg LB/B rs1132111 - NCOA5 Q9HCD5 VAR_053530 p.Glu326Gly LB/B rs11549557 - NCOA6 Q14686 VAR_027874 p.Pro512Leu LB/B rs6060031 - NCOA6 Q14686 VAR_027875 p.Asn955Ser LB/B rs17092079 - NCOA6 Q14686 VAR_027876 p.Ile1995Val LB/B rs6060022 - NCOA6 Q14686 VAR_036551 p.Pro1060Ser US - A breast cancer sample NCOA6 Q14686 VAR_036552 p.Ser1191Arg US - A breast cancer sample NCOA7 Q8NI08 VAR_026965 p.Ser399Ala LB/B rs6919947 - NCOA7 Q8NI08 VAR_026966 p.Asp942Glu LB/B rs1567 - NCOA7 Q8NI08 VAR_050438 p.Gly533Arg LB/B rs35223550 - NCOR2 Q9Y618 VAR_054751 p.Ala1699Thr LB/B rs2229840 - NCOR2 Q9Y618 VAR_060073 p.Gly781Glu LB/B rs7978237 - NCOR2 Q9Y618 VAR_060074 p.Pro2001Ser LB/B rs2230944 - NCR1 O76036 VAR_018633 p.Lys82Gln LB/B rs2278428 - NCR1 O76036 VAR_035527 p.Asp87Tyr US - A colorectal cancer sample NCR2 O95944 VAR_018634 p.Met75Val LB/B rs9471577 - NCR2 O95944 VAR_018635 p.Ser139Pro LB/B rs2236369 - NCR2 O95944 VAR_018636 p.Ile218Lys LB/B rs2273961 - NCR2 O95944 VAR_018637 p.Met223Val LB/B rs2273962 - NCR3 O14931 VAR_044114 p.Ala103Thr LB/B rs11575840 - NCR3 O14931 VAR_044115 p.Arg174Ser LB/B rs3179003 - NCSTN Q92542 VAR_050274 p.Val75Ile LB/B rs12045198 - NCSTN Q92542 VAR_050275 p.Glu77Asp LB/B rs35603924 - NCSTN Q92542 VAR_067756 p.Pro211Arg LP/P - Acne inversa, familial, 1 (ACNINV1) [MIM:142690] NDC1 Q9BTX1 VAR_026388 p.Gly154Asp LB/B rs17849721 - NDC80 O14777 VAR_027436 p.Ser66Ala LB/B rs16943490 - NDC80 O14777 VAR_027437 p.Glu348Asp LB/B rs12456560 - NDC80 O14777 VAR_027438 p.Ala605Pro LB/B rs9051 - NDFIP2 Q9NV92 VAR_023414 p.Ala136Val LB/B rs11549502 - NDFIP2 Q9NV92 VAR_061687 p.Pro124Ser LB/B rs55887763 - NDN Q99608 VAR_065889 p.Val318Ala LB/B rs114077338 - NDNF Q8TB73 VAR_084038 p.Thr201Ser LP/P rs200466645 Hypogonadotropic hypogonadism 25 with anosmia (HH25) [MIM:618841] NDOR1 Q9UHB4 VAR_039010 p.Val522Ile LB/B rs62587579 - NDP Q00604 VAR_005478 p.Leu13Arg LP/P rs104894879 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005479 p.Cys39Arg LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005480 p.Arg41Lys LP/P - Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] NDP Q00604 VAR_005481 p.His42Arg LP/P rs104894874 Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] NDP Q00604 VAR_005482 p.Tyr44Cys LP/P rs104894870 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005483 p.Lys58Asn LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005483 p.Lys58Asn LP/P - Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] NDP Q00604 VAR_005484 p.Val60Glu LP/P rs104894869 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005485 p.Leu61Phe LP/P rs104894880 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005486 p.Leu61Pro LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005487 p.Ala63Asp LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005488 p.Cys65Tyr LP/P rs1369490553 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005489 p.Cys69Ser US rs104894872 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005490 p.Cys65Trp LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005491 p.Arg74Cys LP/P rs727504031 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005492 p.Ser75Cys LP/P rs104894868 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005494 p.Arg90Pro LP/P rs104894867 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005496 p.Cys96Tyr LP/P rs104894871 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005497 p.Ser101Phe LP/P rs104894883 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005498 p.Lys104Gln LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005499 p.Tyr120Cys LP/P - Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] NDP Q00604 VAR_005500 p.Arg121Gly LP/P - Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] NDP Q00604 VAR_005501 p.Arg121Gln LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005501 p.Arg121Gln LP/P - Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] NDP Q00604 VAR_005502 p.Arg121Trp LP/P rs104894878 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005502 p.Arg121Trp LP/P rs104894878 Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] NDP Q00604 VAR_005504 p.Ile123Asn LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005505 p.Leu124Phe LP/P rs28933684 Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] NDP Q00604 VAR_009275 p.Cys96Trp LP/P rs104894877 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_016048 p.Leu16Pro LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_016049 p.Ser75Pro LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_016050 p.Ala105Thr LP/P rs104894875 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_016051 p.Cys110Gly LP/P rs104894876 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_034137 p.Asp23Glu LB/B rs5952410 - NDP Q00604 VAR_063998 p.Ile18Lys LP/P - Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] NDP Q00604 VAR_063999 p.Arg38Cys LP/P rs758550101 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_063999 p.Arg38Cys LP/P rs758550101 Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] NDP Q00604 VAR_064000 p.Arg41Ser US - - NDP Q00604 VAR_064001 p.His43Gln LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064002 p.His43Arg LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064003 p.Val45Glu LP/P rs137852221 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064004 p.Val45Met LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064005 p.Lys54Asn LP/P - Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] NDP Q00604 VAR_064006 p.Cys55Arg LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064007 p.Leu61Ile LP/P - Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] NDP Q00604 VAR_064008 p.Gly67Glu LP/P rs1460859456 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064009 p.Gly67Arg LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064010 p.Phe89Leu LP/P rs1057520333 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064011 p.Arg90Cys LP/P rs1057518793 Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064012 p.Ser92Pro LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064013 p.Cys95Phe LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064014 p.Cys95Arg LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064015 p.Arg97Pro LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064016 p.Pro98Leu LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064017 p.Leu103Val LP/P - Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] NDP Q00604 VAR_064018 p.Lys104Asn LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064019 p.Leu108Pro US - - NDP Q00604 VAR_064020 p.Cys110Arg LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064021 p.Gly112Glu LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064022 p.Arg115Leu LP/P - Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] NDP Q00604 VAR_064023 p.Ala118Asp LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064024 p.Arg121Leu LP/P rs137852220 Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] NDP Q00604 VAR_064025 p.Cys126Ser LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064026 p.Cys128Arg LP/P - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_085735 p.Cys69Gly US - Norrie disease (ND) [MIM:310600] NDRG1 Q92597 VAR_050234 p.Met67Val LB/B rs2233319 - NDRG1 Q92597 VAR_050235 p.Met111Leu LB/B rs2233328 - NDRG2 Q9UN36 VAR_026572 p.Gly48Val LB/B rs11552412 - NDRG2 Q9UN36 VAR_050236 p.Thr45Ser LB/B rs36007455 - NDST1 P52848 VAR_072646 p.Gly611Ser LP/P rs606231459 Intellectual developmental disorder, autosomal recessive 46 (MRT46) [MIM:616116] NDST1 P52848 VAR_072647 p.Phe640Leu LP/P rs606231458 Intellectual developmental disorder, autosomal recessive 46 (MRT46) [MIM:616116] NDST1 P52848 VAR_072648 p.Glu642Asp LP/P rs606231457 Intellectual developmental disorder, autosomal recessive 46 (MRT46) [MIM:616116] NDST1 P52848 VAR_072649 p.Arg709Gln LP/P rs606231456 Intellectual developmental disorder, autosomal recessive 46 (MRT46) [MIM:616116] NDST3 O95803 VAR_036131 p.His264Gln US - A colorectal cancer sample NDST4 Q9H3R1 VAR_061890 p.Arg12Gln LB/B rs35181627 - NDUFA1 O15239 VAR_014485 p.Gly32Arg LB/B rs1801316 - NDUFA1 O15239 VAR_035099 p.Gly8Arg LP/P rs104894884 Mitochondrial complex I deficiency, nuclear type 12 (MC1DN12) [MIM:301020] NDUFA1 O15239 VAR_035100 p.Arg37Ser LP/P rs104894885 Mitochondrial complex I deficiency, nuclear type 12 (MC1DN12) [MIM:301020] NDUFA1 O15239 VAR_036173 p.Arg53Cys US rs1257734702 A colorectal cancer sample NDUFA10 O95299 VAR_034149 p.Ala2Gly LB/B rs11541494 - NDUFA10 O95299 VAR_078937 p.Gln142Arg LP/P rs387906873 Mitochondrial complex I deficiency, nuclear type 22 (MC1DN22) [MIM:618243] NDUFA10 O95299 VAR_081458 p.Leu294Pro US rs1057519414 Mitochondrial complex I deficiency, nuclear type 22 (MC1DN22) [MIM:618243] NDUFA12 Q9UI09 VAR_060682 p.Thr104Ala LB/B rs17850017 - NDUFA13 Q9P0J0 VAR_045984 p.Lys5Asn US rs137852869 A Hurthle cell variant of papillary carcinoma sample NDUFA13 Q9P0J0 VAR_045985 p.Arg115Pro US - A Hurthle cell variant of papillary carcinoma sample NDUFA13 Q9P0J0 VAR_078938 p.Arg57His LP/P rs752513525 Mitochondrial complex I deficiency, nuclear type 28 (MC1DN28) [MIM:618249] NDUFA2 O43678 VAR_036174 p.Asp50Asn US - A breast cancer sample NDUFA3 O95167 VAR_036175 p.Asn62Asp US - A breast cancer sample NDUFA6 P56556 VAR_014483 p.Ala9Val LB/B rs1801311 - NDUFA6 P56556 VAR_081470 p.Arg64Pro LP/P - Mitochondrial complex I deficiency, nuclear type 33 (MC1DN33) [MIM:618253] NDUFA7 O95182 VAR_050589 p.Pro66Ala LB/B rs2288415 - NDUFA8 P51970 VAR_036176 p.Asn140His US - A breast cancer sample NDUFA8 P51970 VAR_085554 p.Arg47Cys LP/P rs767864225 Mitochondrial complex I deficiency, nuclear type 37 (MC1DN37) [MIM:619272] NDUFA8 P51970 VAR_085555 p.Arg98Leu LP/P - Mitochondrial complex I deficiency, nuclear type 37 (MC1DN37) [MIM:619272] NDUFA9 Q16795 VAR_078936 p.Arg321Pro LP/P rs199592341 Mitochondrial complex I deficiency, nuclear type 26 (MC1DN26) [MIM:618247] NDUFA9 Q16795 VAR_081457 p.Arg360Cys LP/P rs3210083 Mitochondrial complex I deficiency, nuclear type 26 (MC1DN26) [MIM:618247] NDUFAF1 Q9Y375 VAR_013559 p.Arg9His LB/B rs1899 - NDUFAF1 Q9Y375 VAR_013560 p.Arg31Leu LB/B rs3204853 - NDUFAF1 Q9Y375 VAR_013561 p.Glu176Lys LB/B rs35227875 - NDUFAF1 Q9Y375 VAR_013562 p.Ala314Gly LB/B rs12900702 - NDUFAF1 Q9Y375 VAR_081445 p.Thr207Pro LP/P rs387906956 Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234] NDUFAF1 Q9Y375 VAR_081446 p.Arg211Cys LP/P rs387906958 Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234] NDUFAF1 Q9Y375 VAR_081447 p.Gly245Arg LP/P rs376344575 Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234] NDUFAF1 Q9Y375 VAR_081449 p.Lys253Arg LP/P rs387906957 Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234] NDUFAF3 Q9BU61 VAR_058491 p.Gly77Arg LP/P rs121918134 Mitochondrial complex I deficiency, nuclear type 18 (MC1DN18) [MIM:618240] NDUFAF3 Q9BU61 VAR_058492 p.Arg122Pro LP/P rs121918135 Mitochondrial complex I deficiency, nuclear type 18 (MC1DN18) [MIM:618240] NDUFAF3 Q9BU61 VAR_081425 p.Ala165Val LP/P rs138275059 Mitochondrial complex I deficiency, nuclear type 18 (MC1DN18) [MIM:618240] NDUFAF4 Q9P032 VAR_044329 p.Leu65Pro LP/P rs63751061 Mitochondrial complex I deficiency, nuclear type 15 (MC1DN15) [MIM:618237] NDUFAF4 Q9P032 VAR_081426 p.Ala3Pro LP/P rs1554197721 Mitochondrial complex I deficiency, nuclear type 15 (MC1DN15) [MIM:618237] NDUFAF5 Q5TEU4 VAR_035376 p.Leu337Phe LB/B rs6042368 - NDUFAF5 Q5TEU4 VAR_054119 p.Leu229Pro LP/P rs118203929 Mitochondrial complex I deficiency, nuclear type 16 (MC1DN16) [MIM:618238] NDUFAF5 Q5TEU4 VAR_067956 p.Leu159Phe LP/P rs267606689 Mitochondrial complex I deficiency, nuclear type 16 (MC1DN16) [MIM:618238] NDUFAF5 Q5TEU4 VAR_076864 p.Gly250Val LP/P rs757043077 Mitochondrial complex I deficiency, nuclear type 16 (MC1DN16) [MIM:618238] NDUFAF6 Q330K2 VAR_047770 p.Gln99Arg LP/P rs137853184 Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239] NDUFAF6 Q330K2 VAR_076272 p.Asp69Val LP/P rs1057519085 Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239] NDUFAF6 Q330K2 VAR_076273 p.Ser76Pro LP/P rs1057519084 Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239] NDUFAF6 Q330K2 VAR_076274 p.Ile124Thr LP/P rs201732170 Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239] NDUFAF6 Q330K2 VAR_076275 p.His269Asp LP/P rs768273248 Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239] NDUFAF6 Q330K2 VAR_076276 p.Arg274Gly LP/P rs1057519086 Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239] NDUFAF6 Q330K2 VAR_084382 p.Ala178Pro LP/P rs201088736 Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239] NDUFAF7 Q7L592 VAR_038274 p.Pro39Ala LB/B rs2714473 - NDUFAF7 Q7L592 VAR_079608 p.Asp266Glu US - - NDUFAF8 A1L188 VAR_083800 p.Phe55Leu US rs1598368033 Mitochondrial complex I deficiency, nuclear type 34 (MC1DN34) [MIM:618776] NDUFB10 O96000 VAR_084767 p.Cys107Ser LP/P - Mitochondrial complex I deficiency, nuclear type 35 (MC1DN35) [MIM:619003] NDUFB11 Q9NX14 VAR_076277 p.Glu121Lys LP/P rs1057519073 Mitochondrial complex I deficiency, nuclear type 30 (MC1DN30) [MIM:301021] NDUFB3 O43676 VAR_078939 p.Trp22Arg LP/P rs142609245 Mitochondrial complex I deficiency, nuclear type 25 (MC1DN25) [MIM:618246] NDUFB5 O43674 VAR_050590 p.Tyr133His LB/B rs4147793 - NDUFB7 P17568 VAR_050591 p.Arg106Gly LB/B rs3752220 - NDUFB8 O95169 VAR_081466 p.Tyr62His LP/P rs1554843434 Mitochondrial complex I deficiency, nuclear type 32 (MC1DN32) [MIM:618252] NDUFB8 O95169 VAR_081467 p.Pro76Gln LP/P rs1239013578 Mitochondrial complex I deficiency, nuclear type 32 (MC1DN32) [MIM:618252] NDUFB8 O95169 VAR_081469 p.Cys144Trp LP/P rs1554843251 Mitochondrial complex I deficiency, nuclear type 32 (MC1DN32) [MIM:618252] NDUFB9 Q9Y6M9 VAR_014484 p.Pro146Ser LB/B rs10195 - NDUFB9 Q9Y6M9 VAR_081460 p.Leu64Pro LP/P rs776388520 Mitochondrial complex I deficiency, nuclear type 24 (MC1DN24) [MIM:618245] NDUFC2 O95298 VAR_014486 p.Leu46Val LB/B rs8875 - NDUFC2 O95298 VAR_085236 p.His58Tyr LP/P rs1306743145 Mitochondrial complex I deficiency, nuclear type 36 (MC1DN36) [MIM:619170] NDUFS1 P28331 VAR_018463 p.Val649Phe LB/B rs1044049 - NDUFS1 P28331 VAR_019532 p.Arg241Trp US rs199422225 Mitochondrial complex I deficiency, nuclear type 5 (MC1DN5) [MIM:618226] NDUFS1 P28331 VAR_019533 p.Asp252Gly LP/P rs199422224 Mitochondrial complex I deficiency, nuclear type 5 (MC1DN5) [MIM:618226] NDUFS1 P28331 VAR_025511 p.Arg241Gln LB/B rs17856901 - NDUFS1 P28331 VAR_069506 p.Val253Gly LB/B rs786205666 - NDUFS1 P28331 VAR_084177 p.Val228Ala LP/P - Mitochondrial complex I deficiency, nuclear type 5 (MC1DN5) [MIM:618226] NDUFS2 O75306 VAR_019535 p.Arg228Gln LP/P rs121434427 Mitochondrial complex I deficiency, nuclear type 6 (MC1DN6) [MIM:618228] NDUFS2 O75306 VAR_019536 p.Pro229Gln LP/P rs121434428 Mitochondrial complex I deficiency, nuclear type 6 (MC1DN6) [MIM:618228] NDUFS2 O75306 VAR_019537 p.Ser413Pro LP/P rs121434429 Mitochondrial complex I deficiency, nuclear type 6 (MC1DN6) [MIM:618228] NDUFS2 O75306 VAR_034150 p.Pro20Thr LB/B rs11538340 - NDUFS2 O75306 VAR_034151 p.Pro229Ala LB/B rs16827493 - NDUFS2 O75306 VAR_034152 p.Pro352Ala LB/B rs11576415 - NDUFS2 O75306 VAR_071891 p.Ala224Val LB/B - - NDUFS2 O75306 VAR_084193 p.Asp446Asn LP/P - Mitochondrial complex I deficiency, nuclear type 6 (MC1DN6) [MIM:618228] NDUFS3 O75489 VAR_012036 p.Pro249Gln LB/B rs9600 - NDUFS3 O75489 VAR_081411 p.Arg140Trp US rs142248674 Mitochondrial complex I deficiency, nuclear type 8 (MC1DN8) [MIM:618230] NDUFS3 O75489 VAR_081412 p.Thr145Ile LP/P rs28939714 Mitochondrial complex I deficiency, nuclear type 8 (MC1DN8) [MIM:618230] NDUFS3 O75489 VAR_081413 p.Arg199Trp LP/P rs104894270 Mitochondrial complex I deficiency, nuclear type 8 (MC1DN8) [MIM:618230] NDUFS4 O43181 VAR_012037 p.Thr174Pro LB/B rs1044692 - NDUFS4 O43181 VAR_078946 p.Asp119His LP/P rs747359752 Mitochondrial complex I deficiency, nuclear type 1 (MC1DN1) [MIM:252010] NDUFS5 O43920 VAR_064569 p.Pro96Ser US rs201212110 - NDUFS6 O75380 VAR_078947 p.Cys115Tyr LP/P rs267606913 Mitochondrial complex I deficiency, nuclear type 9 (MC1DN9) [MIM:618232] NDUFS7 O75251 VAR_008848 p.Val122Met LP/P rs104894705 Mitochondrial complex I deficiency, nuclear type 3 (MC1DN3) [MIM:618224] NDUFS7 O75251 VAR_014482 p.Pro23Leu LB/B rs1142530 - NDUFS7 O75251 VAR_084360 p.Arg145His US rs121434479 - NDUFS8 O00217 VAR_019538 p.Pro79Leu LP/P rs28939679 Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222] NDUFS8 O00217 VAR_019539 p.Arg102His LP/P rs121912638 Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222] NDUFS8 O00217 VAR_081440 p.Glu63Gln LP/P rs397514618 Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222] NDUFS8 O00217 VAR_081441 p.Arg77Trp US rs146766138 Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222] NDUFS8 O00217 VAR_081442 p.Pro85Leu US rs121912639 Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222] NDUFS8 O00217 VAR_081443 p.Arg138His US rs111033588 Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222] NDUFS8 O00217 VAR_081444 p.Ala159Asp US rs397514617 Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222] NDUFS8 O00217 VAR_083603 p.Arg18Cys US rs750062334 Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222] NDUFV1 P49821 VAR_008846 p.Ala341Val LP/P rs121913660 Mitochondrial complex I deficiency, nuclear type 4 (MC1DN4) [MIM:618225] NDUFV1 P49821 VAR_008847 p.Thr423Met LP/P rs121913659 Mitochondrial complex I deficiency, nuclear type 4 (MC1DN4) [MIM:618225] NDUFV1 P49821 VAR_014480 p.Ile76Val LB/B rs1800670 - NDUFV1 P49821 VAR_014481 p.Asn277Tyr LB/B rs1043770 - NDUFV1 P49821 VAR_019534 p.Glu214Lys LP/P rs121913661 Mitochondrial complex I deficiency, nuclear type 4 (MC1DN4) [MIM:618225] NDUFV1-DT Q8NBR9 VAR_029584 p.Pro22Thr LB/B rs12421329 - NDUFV2 P19404 VAR_016167 p.Val29Ala LB/B rs906807 - NEB P20929 VAR_021888 p.Gly5934Glu LB/B rs3732309 - NEB P20929 VAR_024240 p.Asp5030Val LB/B rs2288200 - NEB P20929 VAR_047692 p.Thr146Ala LB/B rs4077109 - NEB P20929 VAR_047693 p.Glu191Gln LB/B rs35686968 - NEB P20929 VAR_047694 p.Lys1027Asn LB/B rs6735208 - NEB P20929 VAR_047695 p.Tyr1301His LB/B rs6711382 - NEB P20929 VAR_047696 p.Glu1469Asp LB/B rs34800215 - NEB P20929 VAR_047697 p.Val1479Ile LB/B rs34577613 - NEB P20929 VAR_047698 p.Val1491Met LB/B rs7426114 - NEB P20929 VAR_047699 p.Tyr1969His LB/B rs34532796 - NEB P20929 VAR_047700 p.Lys2613Asn LB/B rs13013209 - NEB P20929 VAR_047701 p.Arg2773Gln LB/B rs35974308 - NEB P20929 VAR_047702 p.Ser2912Pro LB/B rs6713162 - NEB P20929 VAR_047703 p.Val2952Gly LB/B rs13024542 - NEB P20929 VAR_047704 p.Trp3360Cys LB/B rs10172023 - NEB P20929 VAR_047705 p.Ser3887Thr LB/B rs35227368 - NEB P20929 VAR_047706 p.Pro4271Leu LB/B rs4327235 - NEB P20929 VAR_047707 p.Asn4337Ser LB/B rs16830236 - NEB P20929 VAR_047708 p.Arg4401Thr LB/B rs2288210 - NEB P20929 VAR_047709 p.Arg5463Pro LB/B rs16830171 - NEB P20929 VAR_056953 p.Thr6131Ile LB/B rs34368668 - NEB P20929 VAR_056954 p.Ile6546Val LB/B rs1061305 - NEBL O76041 VAR_010289 p.Gln187His LB/B rs75301590 - NEBL O76041 VAR_010290 p.Met351Val LB/B rs4025981 - NEBL O76041 VAR_010291 p.Asn654Lys LB/B rs4748728 - NEBL O76041 VAR_010292 p.Thr728Ala LB/B rs71535732 - NEBL O76041 VAR_021887 p.Ala219Asp LB/B rs2296610 - NEBL O76041 VAR_051229 p.Asp378His LB/B rs41277370 - NECAB2 Q7Z6G3 VAR_048639 p.Gly233Ser LB/B rs2292323 - NECAB2 Q7Z6G3 VAR_048640 p.Thr235Ser LB/B rs2292324 - NECAB2 Q7Z6G3 VAR_048641 p.Gln308His LB/B rs2292329 - NECAB2 Q7Z6G3 VAR_048642 p.Leu353Val LB/B rs2271298 - NECAB3 Q96P71 VAR_048643 p.Pro254Leu LB/B rs17124890 - NECAP1 Q8NC96 VAR_034153 p.Asp224Asn LB/B rs2231752 - NECAP2 Q9NVZ3 VAR_034154 p.Asp149Ala LB/B rs35056694 - NECTIN3 Q9NQS3 VAR_049995 p.Arg432Leu LB/B rs15611 - NECTIN4 Q96NY8 VAR_034669 p.Phe53Leu LB/B rs3737786 - NECTIN4 Q96NY8 VAR_064189 p.Thr185Met LP/P rs267606992 Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) [MIM:613573] NEDD4 P46934 VAR_036472 p.Tyr627His US - A breast cancer sample NEDD4 P46934 VAR_047909 p.Arg679Gln LB/B rs2303580 - NEDD4 P46934 VAR_047910 p.Asn698Ser LB/B rs2303579 - NEDD4 P46934 VAR_061985 p.Met33Val LB/B rs1912403 - NEDD4L Q96PU5 VAR_023415 p.Pro355Leu LB/B rs767136811 - NEDD4L Q96PU5 VAR_023416 p.Ser497Arg LB/B - - NEDD4L Q96PU5 VAR_077880 p.Tyr679Cys LP/P rs879255599 Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201] NEDD4L Q96PU5 VAR_077881 p.Gln694His LP/P rs879255598 Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201] NEDD4L Q96PU5 VAR_077882 p.Glu893Lys LP/P rs879255597 Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201] NEDD4L Q96PU5 VAR_077883 p.Arg897Gln LP/P rs879255596 Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201] NEDD9 Q14511 VAR_021857 p.Thr577Met LB/B rs3734401 - NEDD9 Q14511 VAR_054082 p.Asp178Asn LB/B rs11546959 - NEDD9 Q14511 VAR_054083 p.Pro304Leu LB/B rs34184473 - NEFH P12036 VAR_026163 p.Glu811Ala LB/B rs165602 - NEFH P12036 VAR_054787 p.Pro575Ser LB/B rs6006164 - NEFH P12036 VAR_056025 p.Pro615Leu LB/B rs5763269 - NEFL P07196 VAR_009703 p.Gln332Pro LP/P rs59443585 Charcot-Marie-Tooth disease, axonal, 2E (CMT2E) [MIM:607684] NEFL P07196 VAR_016017 p.Glu7Lys LB/B rs57848467 - NEFL P07196 VAR_016018 p.Pro8Leu LP/P rs61491953 Charcot-Marie-Tooth disease, demyelinating, 1F (CMT1F) [MIM:607734] NEFL P07196 VAR_016019 p.Pro8Gln LP/P rs61491953 Charcot-Marie-Tooth disease, demyelinating, 1F (CMT1F) [MIM:607734] NEFL P07196 VAR_016020 p.Pro8Arg LP/P rs61491953 Charcot-Marie-Tooth disease, axonal, 2E (CMT2E) [MIM:607684] NEFL P07196 VAR_016020 p.Pro8Arg LP/P rs61491953 Charcot-Marie-Tooth disease, demyelinating, 1F (CMT1F) [MIM:607734] NEFL P07196 VAR_016021 p.Pro22Ser LP/P rs28928910 Charcot-Marie-Tooth disease, axonal, 2E (CMT2E) [MIM:607684] NEFL P07196 VAR_016022 p.Glu90Lys LP/P rs58332872 Charcot-Marie-Tooth disease, demyelinating, 1F (CMT1F) [MIM:607734] NEFL P07196 VAR_016023 p.Asn98Ser LP/P rs58982919 Charcot-Marie-Tooth disease, demyelinating, 1F (CMT1F) [MIM:607734] NEFL P07196 VAR_016023 p.Asn98Ser LP/P rs58982919 Charcot-Marie-Tooth disease, dominant intermediate G (CMTDIG) [MIM:617882] NEFL P07196 VAR_016024 p.Asp468Asn LB/B rs57153321 - NEFL P07196 VAR_021613 p.Leu336Pro US rs587777881 Charcot-Marie-Tooth disease, axonal, 2E (CMT2E) [MIM:607684] NEFL P07196 VAR_021614 p.Glu396Lys LP/P rs62636503 Charcot-Marie-Tooth disease, axonal, 2E (CMT2E) [MIM:607684] NEFL P07196 VAR_021614 p.Glu396Lys LP/P rs62636503 Charcot-Marie-Tooth disease, dominant intermediate G (CMTDIG) [MIM:617882] NEFL P07196 VAR_081565 p.Ile213Met LB/B rs62636522 - NEFL P07196 VAR_081566 p.Tyr265Cys US rs587777880 Charcot-Marie-Tooth disease, axonal, 2E (CMT2E) [MIM:607684] NEFL P07196 VAR_081567 p.Leu268Pro LP/P rs62636502 Charcot-Marie-Tooth disease, axonal, 2E (CMT2E) [MIM:607684] NEFL P07196 VAR_081569 p.Pro440Leu US rs587777882 Charcot-Marie-Tooth disease, axonal, 2E (CMT2E) [MIM:607684] NEFM P07197 VAR_056024 p.Pro725Gln LB/B rs196863 - NEFM P07197 VAR_060732 p.Pro439Thr LB/B rs196864 - NEIL1 Q96FI4 VAR_020580 p.Ser82Cys LB/B rs5745905 - NEIL1 Q96FI4 VAR_020581 p.Gly83Asp LB/B rs5745906 - NEIL1 Q96FI4 VAR_020582 p.Cys136Arg LB/B rs5745907 - NEIL1 Q96FI4 VAR_020583 p.Ile182Met LB/B rs7183491 - NEIL1 Q96FI4 VAR_020584 p.Asp252Asn LB/B rs5745926 - NEIL1 Q96FI4 VAR_065018 p.Lys242Arg US - - NEIL1 Q96FI4 VAR_065963 p.Arg159Gln LB/B rs769880000 - NEIL1 Q96FI4 VAR_065964 p.Glu181Lys LB/B rs749636951 - NEIL1 Q96FI4 VAR_087607 p.Ala44Asp US rs1348165160 - NEIL1 Q96FI4 VAR_087608 p.Ala156Thr US - - NEIL2 Q969S2 VAR_020585 p.Thr70Ser LB/B rs8191611 - NEIL2 Q969S2 VAR_020586 p.Arg103Gln LB/B rs8191613 - NEIL2 Q969S2 VAR_020587 p.Arg103Trp LB/B rs8191612 - NEIL2 Q969S2 VAR_020588 p.Arg257Leu LB/B rs8191664 - NEIL2 Q969S2 VAR_020589 p.Pro304Thr LB/B rs8191666 - NEIL3 Q8TAT5 VAR_020590 p.Pro117Arg LB/B rs7689099 - NEIL3 Q8TAT5 VAR_020591 p.Pro443Leu LB/B rs13112358 - NEIL3 Q8TAT5 VAR_020592 p.Gly520Arg LB/B rs1876268 - NEIL3 Q8TAT5 VAR_025806 p.Arg38Cys LB/B rs34007209 - NEIL3 Q8TAT5 VAR_025808 p.Val76Met LB/B rs34112288 - NEIL3 Q8TAT5 VAR_025809 p.Gln172His LB/B rs17064658 - NEIL3 Q8TAT5 VAR_025810 p.His286Arg LB/B rs34193982 - NEIL3 Q8TAT5 VAR_025811 p.Ile346Val LB/B rs17064676 - NEIL3 Q8TAT5 VAR_025812 p.Gln471His LB/B rs13112390 - NEIL3 Q8TAT5 VAR_025813 p.Ala547Ser LB/B rs36005630 - NEIL3 Q8TAT5 VAR_025814 p.His556Arg LB/B rs35418725 - NEK1 Q96PY6 VAR_040900 p.Ile10Phe LB/B rs34214559 - NEK1 Q96PY6 VAR_040901 p.Glu25Lys US - A lung large cell carcinoma sample NEK1 Q96PY6 VAR_040902 p.Leu76Val LB/B rs35093214 - NEK1 Q96PY6 VAR_040903 p.Ala294Pro US - A lung adenocarcinoma sample NEK1 Q96PY6 VAR_040904 p.Arg355Gly LB/B rs35763578 - NEK1 Q96PY6 VAR_040905 p.Ala463Val LB/B rs34540355 - NEK1 Q96PY6 VAR_040906 p.Lys745Asn LB/B - - NEK1 Q96PY6 VAR_046486 p.Ala598Thr LB/B rs33933790 - NEK1 Q96PY6 VAR_046488 p.Gln883Glu LB/B rs6828134 - NEK1 Q96PY6 VAR_046489 p.Asp1180Asn LB/B rs35503975 - NEK1 Q96PY6 VAR_051651 p.Glu724Gly LB/B rs34099167 - NEK1 Q96PY6 VAR_061743 p.Asn717Lys LB/B rs34324114 - NEK1 Q96PY6 VAR_069617 p.Gly145Arg LP/P rs431905508 Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6) [MIM:263520] NEK1 Q96PY6 VAR_069618 p.Leu253Ser LP/P - Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6) [MIM:263520] NEK1 Q96PY6 VAR_080694 p.Arg261His LB/B rs200161705 - NEK10 Q6ZWH5 VAR_040928 p.Phe50Leu LB/B rs56125830 - NEK10 Q6ZWH5 VAR_040929 p.Ala66Val US rs201821707 An ovarian mucinous carcinoma sample NEK10 Q6ZWH5 VAR_040930 p.Gly67Ser LB/B rs55958314 - NEK10 Q6ZWH5 VAR_040931 p.Glu379Lys US - A metastatic melanoma sample NEK10 Q6ZWH5 VAR_040932 p.Leu513Ser LB/B rs10510592 - NEK10 Q6ZWH5 VAR_040933 p.Asn659Ser LB/B rs55833401 - NEK10 Q6ZWH5 VAR_040934 p.Leu701Val LB/B rs34313679 - NEK10 Q6ZWH5 VAR_083827 p.Pro748Leu US rs1575215909 Ciliary dyskinesia, primary, 44 (CILD44) [MIM:618781] NEK10 Q6ZWH5 VAR_083828 p.Arg773Cys US rs766982731 Ciliary dyskinesia, primary, 44 (CILD44) [MIM:618781] NEK11 Q8NG66 VAR_033907 p.Val562Ala LB/B rs16836266 - NEK11 Q8NG66 VAR_040935 p.Thr108Met US rs200709914 A colorectal adenocarcinoma sample NEK11 Q8NG66 VAR_040936 p.Tyr123Cys LB/B rs55806123 - NEK11 Q8NG66 VAR_040937 p.Ser213Leu LB/B rs55920129 - NEK11 Q8NG66 VAR_040938 p.Ile263Val LB/B rs35567155 - NEK11 Q8NG66 VAR_040939 p.Glu451Lys LB/B rs35409692 - NEK11 Q8NG66 VAR_040940 p.Glu488Val LB/B rs3738000 - NEK11 Q8NG66 VAR_040941 p.Glu492Lys US rs140599545 A colorectal adenocarcinoma sample NEK11 Q8NG66 VAR_040942 p.Met548Thr LB/B rs55813244 - NEK11 Q8NG66 VAR_040943 p.Glu606Lys LB/B rs55944737 - NEK11 Q8NG66 VAR_040944 p.Asp617Asn US rs765563230 A colorectal adenocarcinoma sample NEK2 P51955 VAR_019990 p.Asn354Ser LB/B rs2230489 - NEK2 P51955 VAR_040907 p.Cys410Tyr LB/B rs56102977 - NEK3 P51956 VAR_033906 p.His23Leu LB/B rs17482764 - NEK3 P51956 VAR_040908 p.Pro60Arg LB/B rs55946204 - NEK3 P51956 VAR_040909 p.Arg122His LB/B rs56190615 - NEK3 P51956 VAR_040910 p.Pro170Leu LB/B rs56021040 - NEK3 P51956 VAR_040911 p.Arg259Gly LB/B rs34077016 - NEK3 P51956 VAR_040912 p.Glu305Asp LB/B rs55969405 - NEK3 P51956 VAR_040913 p.Asp461Asn LB/B rs34076988 - NEK3 P51956 VAR_040914 p.Glu477Lys LB/B rs34488913 - NEK4 P51957 VAR_040915 p.Pro225Ala LB/B rs1029871 - NEK4 P51957 VAR_040916 p.Arg239Gly LB/B rs35778416 - NEK4 P51957 VAR_040917 p.Pro250Leu LB/B rs56408749 - NEK4 P51957 VAR_040918 p.Thr357Ile LB/B rs2230537 - NEK4 P51957 VAR_040919 p.Gln456Glu LB/B rs56019351 - NEK4 P51957 VAR_040920 p.Phe567Leu LB/B rs34986855 - NEK4 P51957 VAR_040921 p.Arg777Lys US - A colorectal adenocarcinoma sample NEK5 Q6P3R8 VAR_040922 p.Arg290His LB/B - - NEK5 Q6P3R8 VAR_040923 p.Cys531Arg LB/B - - NEK5 Q6P3R8 VAR_051652 p.Lys255Gln LB/B rs34756139 - NEK7 Q8TDX7 VAR_040924 p.Arg35Gly LB/B rs55833332 - NEK7 Q8TDX7 VAR_040925 p.Ile275Met US - An ovarian serous carcinoma sample NEK8 Q86SG6 VAR_065769 p.Leu330Phe LP/P rs199962228 Nephronophthisis 9 (NPHP9) [MIM:613824] NEK8 Q86SG6 VAR_065770 p.His425Tyr LP/P rs118204032 Nephronophthisis 9 (NPHP9) [MIM:613824] NEK8 Q86SG6 VAR_065771 p.Ala497Pro LP/P rs146326420 Nephronophthisis 9 (NPHP9) [MIM:613824] NEK9 Q8TD19 VAR_027900 p.Arg429His LB/B rs10146482 - NEK9 Q8TD19 VAR_040926 p.Pro828Thr LB/B rs36014869 - NEK9 Q8TD19 VAR_040927 p.Pro870Ser US - A lung neuroendocrine carcinoma sample NEK9 Q8TD19 VAR_077801 p.Ile167Thr LP/P rs879253775 Nevus comedonicus (NC) [MIM:617025] NEK9 Q8TD19 VAR_077802 p.Ile573Thr LP/P rs1555352529 Nevus comedonicus (NC) [MIM:617025] NEK9 Q8TD19 VAR_077803 p.Arg681His LP/P rs142859694 Arthrogryposis, Perthes disease, and upward gaze palsy (APUG) [MIM:614262] NELFA Q9H3P2 VAR_059459 p.Ser335Ala LB/B rs2234569 - NELL1 Q92832 VAR_020167 p.Arg354Trp LB/B rs8176786 - NELL1 Q92832 VAR_035834 p.Cys553Phe US - A colorectal cancer sample NELL1 Q92832 VAR_047828 p.Arg82Gln LB/B rs8176785 - NELL1 Q92832 VAR_047829 p.Phe211Val LB/B rs35809043 - NELL1 Q92832 VAR_047830 p.Val287Ile LB/B rs11820003 - NELL2 Q99435 VAR_048987 p.Val5Ile LB/B rs2658973 - NELL2 Q99435 VAR_048988 p.Asn347Asp LB/B rs17574839 - NELL2 Q99435 VAR_048989 p.Pro631Leu LB/B rs1050710 - NEMF O60524 VAR_034488 p.Ser257Cys LB/B rs3100906 - NEMF O60524 VAR_085459 p.Ile553Thr US - Intellectual developmental disorder with speech delay and axonal peripheral neuropathy (IDDSAPN) [MIM:619099] NEMP1 O14524 VAR_057817 p.Ile217Val LB/B rs17546579 - NEO1 Q92859 VAR_027954 p.Pro534Leu LB/B rs4467039 - NEPRO Q6NW34 VAR_025418 p.Glu101Lys LB/B rs2291465 - NEPRO Q6NW34 VAR_025419 p.Pro352Ser LB/B rs2306858 - NEPRO Q6NW34 VAR_025420 p.Phe357Ile LB/B rs2306857 - NEPRO Q6NW34 VAR_025421 p.Thr476Ala LB/B rs3732813 - NEPRO Q6NW34 VAR_025422 p.Ser490Pro LB/B rs7628368 - NEPRO Q6NW34 VAR_084136 p.Arg94Cys US rs1236015814 Anauxetic dysplasia 3 (ANXD3) [MIM:618853] NEPRO Q6NW34 VAR_084137 p.Leu145Phe US - Anauxetic dysplasia 3 (ANXD3) [MIM:618853] NES P48681 VAR_049814 p.Val815Ile LB/B rs951781 - NES P48681 VAR_049815 p.Ser1016Asn LB/B rs2365718 - NES P48681 VAR_049816 p.Pro1101Leu LB/B rs2886443 - NES P48681 VAR_049817 p.Arg1133Ser LB/B rs17393797 - NES P48681 VAR_049818 p.Pro1275Leu LB/B rs3748570 - NES P48681 VAR_061301 p.Val130Ala LB/B rs4278369 - NET1 Q7Z628 VAR_035972 p.Asp202Asn US - A breast cancer sample NET1 Q7Z628 VAR_051982 p.Thr417Ile LB/B rs34658946 - NETO1 Q8TDF5 VAR_051230 p.Ser481Asn LB/B rs922999 - NETO1 Q8TDF5 VAR_051231 p.Ala487Gly LB/B rs17086286 - NETO2 Q8NC67 VAR_051232 p.Ser456Thr LB/B rs2231983 - NEU1 Q99519 VAR_012207 p.Val54Met LP/P - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012208 p.Gly68Val LP/P - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012209 p.Leu91Arg LP/P rs104893972 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012210 p.Ser182Gly LP/P rs398123392 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012211 p.Val217Met LP/P rs28940583 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012212 p.Gly219Ala LP/P rs754068739 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012213 p.Gly227Arg LP/P rs769765227 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012214 p.Leu231His LP/P rs762400331 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012215 p.Trp240Arg LP/P rs104893978 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012216 p.Gly243Arg LP/P rs104893983 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012217 p.Phe260Tyr LP/P rs104893977 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012218 p.Leu270Pro LP/P - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012219 p.Leu270Phe LP/P - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012220 p.Arg294Ser LP/P rs190549838 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012221 p.Ala298Val LP/P rs104893981 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012222 p.Gly328Ser LP/P rs534846786 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012223 p.Pro335Gln LP/P rs749996046 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012224 p.Leu363Pro LP/P rs193922915 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012225 p.Tyr370Cys LP/P rs1310267862 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_017460 p.Pro80Leu LP/P rs104893985 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_017461 p.Pro316Ser LP/P rs104893979 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_018076 p.Arg225Pro LP/P rs104893980 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_018077 p.Arg341Gly LP/P rs751458617 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_049203 p.Gly88Ala LB/B rs34712643 - NEU1 Q99519 VAR_079557 p.Leu90Phe LB/B rs374556080 - NEU1 Q99519 VAR_079558 p.Val179Ala LB/B rs150302766 - NEU1 Q99519 VAR_079559 p.Arg208Gln LB/B rs375104221 - NEU1 Q99519 VAR_079560 p.Pro210Ala LB/B rs151177689 - NEU1 Q99519 VAR_079561 p.Val217Ala LB/B rs146850952 - NEU1 Q99519 VAR_079562 p.Thr222Met LB/B rs201684013 - NEU1 Q99519 VAR_079563 p.Asp234Asn LB/B rs143868999 - NEU1 Q99519 VAR_079564 p.Gly248Ser LB/B rs373311653 - NEU1 Q99519 VAR_079565 p.Gly252Ser LB/B rs145177628 - NEU1 Q99519 VAR_079566 p.Ala279Thr LB/B rs368320390 - NEU1 Q99519 VAR_079567 p.Ser351Arg LB/B rs377573360 - NEU1 Q99519 VAR_079568 p.Arg357Gln LB/B rs139301823 - NEU2 Q9Y3R4 VAR_024461 p.Ser11Arg LB/B rs2233384 - NEU2 Q9Y3R4 VAR_024462 p.Arg41Gln LB/B rs2233385 - NEU2 Q9Y3R4 VAR_049204 p.Ala145Thr LB/B rs2233390 - NEU2 Q9Y3R4 VAR_055311 p.His168Asn LB/B rs2233391 - NEU2 Q9Y3R4 VAR_055312 p.Arg182Gln LB/B rs2233393 - NEU3 Q9UQ49 VAR_055839 p.Arg15Gln LB/B rs7115499 - NEU4 Q8WWR8 VAR_067458 p.Gly301Arg LB/B rs11545301 - NEURL2 Q9BR09 VAR_052033 p.Glu211Lys LB/B rs35342327 - NEURL4 Q96JN8 VAR_049527 p.Gln1019His LB/B rs3809813 - NEUROD1 Q13562 VAR_012487 p.Arg111Leu LP/P rs104893649 Type 2 diabetes mellitus (T2D) [MIM:125853] NEUROD1 Q13562 VAR_014820 p.Thr45Ala LB/B rs1801262 - NEUROD1 Q13562 VAR_031260 p.Pro197His LB/B rs8192556 - NEUROD1 Q13562 VAR_076552 p.Arg103Pro LP/P - Maturity-onset diabetes of the young 6 (MODY6) [MIM:606394] NEUROD1 Q13562 VAR_076553 p.Glu110Lys US rs763092306 Maturity-onset diabetes of the young 6 (MODY6) [MIM:606394] NEUROD1 Q13562 VAR_076554 p.Val242Ile US rs786205158 - NEUROD2 Q15784 VAR_082114 p.Glu130Gln LP/P rs1323339153 Developmental and epileptic encephalopathy 72 (DEE72) [MIM:618374] NEUROD2 Q15784 VAR_082115 p.Met134Thr LP/P rs1567841596 Developmental and epileptic encephalopathy 72 (DEE72) [MIM:618374] NEUROD4 Q9HD90 VAR_012979 p.Lys68Thr LB/B rs76064726 - NEUROG3 Q9Y4Z2 VAR_029003 p.Arg93Leu LP/P rs121917838 Diarrhea 4, malabsorptive, congenital (DIAR4) [MIM:610370] NEUROG3 Q9Y4Z2 VAR_029004 p.Arg107Ser LP/P rs121917837 Diarrhea 4, malabsorptive, congenital (DIAR4) [MIM:610370] NEUROG3 Q9Y4Z2 VAR_055316 p.Phe199Ser LB/B rs4536103 - NEXMIF Q5QGS0 VAR_049529 p.Ile1112Thr LB/B rs12851763 - NEXN Q0ZGT2 VAR_049963 p.Gly245Arg LB/B rs1166698 - NEXN Q0ZGT2 VAR_059414 p.Arg335Lys LB/B rs9660322 - NEXN Q0ZGT2 VAR_063009 p.Pro611Thr LP/P rs137853198 Cardiomyopathy, dilated, 1CC (CMD1CC) [MIM:613122] NEXN Q0ZGT2 VAR_063011 p.Tyr652Cys LP/P rs137853197 Cardiomyopathy, dilated, 1CC (CMD1CC) [MIM:613122] NEXN Q0ZGT2 VAR_065477 p.Gln131Glu LP/P rs387907079 Cardiomyopathy, familial hypertrophic, 20 (CMH20) [MIM:613876] NEXN Q0ZGT2 VAR_065478 p.Arg279Cys LP/P rs146245480 Cardiomyopathy, familial hypertrophic, 20 (CMH20) [MIM:613876] NF1 P21359 VAR_002653 p.Gly629Arg LP/P rs199474738 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_002654 p.Leu844Arg LP/P rs137854566 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_002655 p.Leu898Pro LP/P rs199474786 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_002657 p.Met1035Arg LP/P rs137854553 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_002658 p.Lys1440Arg LP/P rs199474788 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_002659 p.Lys1444Glu LP/P rs137854550 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_002659 p.Lys1444Glu LP/P rs137854550 Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] NF1 P21359 VAR_002660 p.Arg1611Trp LP/P rs1060500316 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_002662 p.Trp1952Arg LP/P rs199474791 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_002663 p.Leu1953Pro LP/P rs199474792 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_002664 p.Leu2164Met LP/P rs137854551 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_002665 p.Tyr2192Asn LP/P rs267606598 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_002667 p.Thr2631Ala LP/P rs199474793 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_008129 p.Leu1446Pro LP/P rs199474733 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_010989 p.Ile117Ser LP/P rs199474731 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_010990 p.Asp338Gly LP/P rs199474773 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_010991 p.Leu508Pro LP/P rs137854558 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_010992 p.Leu844Phe LP/P rs199474785 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_010993 p.Gly1166Asp LP/P rs199474787 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_010994 p.Arg1204Trp LP/P rs199474732 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_010995 p.Arg1276Pro LP/P rs137854556 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_010996 p.Arg1412Ser LP/P rs137854554 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_010997 p.Lys1440Gln LP/P rs199474790 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_010998 p.Ser1489Gly LP/P rs199474743 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_017550 p.Ala74Asp US rs199474726 Mismatch repair deficient cancer cells NF1 P21359 VAR_017551 p.Cys93Tyr LP/P rs199474728 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_017552 p.Asp176Glu LB/B rs112306990 - NF1 P21359 VAR_017553 p.Leu604Val LP/P rs142712751 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_017554 p.His712Arg US rs199474727 Mismatch repair deficient cancer cells NF1 P21359 VAR_017555 p.Arg1276Gln US rs137854556 Mismatch repair deficient cancer cells NF1 P21359 VAR_017555 p.Arg1276Gln LP/P rs137854556 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_017669 p.Leu2088Pro LP/P rs137854561 Familial spinal neurofibromatosis (FSNF) [MIM:162210] NF1 P21359 VAR_021730 p.Ser82Phe LP/P rs199474729 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021731 p.Ile157Asn LP/P rs199474744 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021732 p.Leu216Pro LP/P rs199474756 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021733 p.Leu357Pro LP/P rs137854563 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021734 p.Tyr491Cys LP/P rs199474757 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021735 p.Leu549Pro LP/P rs199474758 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021736 p.Leu578Arg LP/P rs199474774 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021737 p.Ile581Thr LP/P rs199474759 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021738 p.Lys583Arg LP/P rs199474760 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021739 p.Ser665Phe US rs145891889 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021740 p.Leu695Pro LP/P rs199474761 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021741 p.Leu763Pro LP/P rs199474762 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021742 p.Arg765His US rs199474777 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021743 p.Trp777Ser LP/P rs199474745 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021744 p.Thr780Lys LP/P rs199474746 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021745 p.His781Pro LP/P rs199474763 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021746 p.Trp784Cys LP/P rs199474778 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021747 p.Trp784Arg LP/P rs199474730 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021748 p.Leu847Pro LP/P rs199474747 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021749 p.Gly848Glu LP/P rs199474748 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021750 p.Leu920Pro LP/P rs199474775 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021751 p.Met968Arg LP/P rs199474749 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021752 p.Leu1147Pro LP/P rs199474779 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021753 p.Asn1156Ser LP/P rs199474764 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021754 p.Phe1193Cys LP/P rs199474780 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021755 p.Arg1204Gly LP/P rs199474732 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021756 p.Arg1250Pro LP/P rs199474765 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021757 p.Lys1444Asn LP/P rs199474750 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021758 p.Lys1444Arg LP/P rs199474781 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021759 p.Ile1605Val LP/P rs199474766 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021760 p.Ala1785Ser LP/P rs199474782 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021762 p.Gly2001Arg LP/P rs199474751 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021763 p.Asp2012Asn LP/P rs199474783 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021764 p.Pro2221Ala LP/P rs199474776 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021765 p.Glu2357Lys LP/P rs199474784 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_021766 p.Thr2507Ile LP/P rs149055633 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_022254 p.Tyr80Cys LB/B rs4795581 - NF1 P21359 VAR_022255 p.Pro678Leu LB/B rs17881753 - NF1 P21359 VAR_022256 p.Tyr1422His LB/B rs17884349 - NF1 P21359 VAR_022257 p.Val2511Leu LB/B rs2230850 - NF1 P21359 VAR_032459 p.His31Arg LP/P rs199474725 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_032460 p.Leu145Pro LP/P rs199474734 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_032461 p.Asp186Val LP/P rs1567820771 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_032462 p.Leu194Arg LP/P rs199474753 Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] NF1 P21359 VAR_032463 p.Cys324Arg LP/P rs199474735 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_032464 p.Glu337Val LP/P rs199474736 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_032465 p.Tyr489Cys LP/P rs137854557 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_032466 p.Leu532Pro LP/P rs199474737 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_032467 p.Ser574Arg LP/P - Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_032468 p.Leu844Pro LP/P rs137854566 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_032469 p.Arg873Cys LB/B rs199474739 - NF1 P21359 VAR_032470 p.Met1073Val LP/P rs199474740 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_032471 p.Leu1196Arg LP/P rs199474741 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_032472 p.Leu1243Pro LP/P rs137854564 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_032473 p.Arg1276Gly LP/P rs199474742 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_032474 p.Lys1430Glu LP/P - Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_032475 p.Asn1451Thr LP/P rs199474754 Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] NF1 P21359 VAR_032476 p.Val1453Leu LP/P rs199474755 Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] NF1 P21359 VAR_035543 p.Leu1187Ile US - A colorectal cancer sample NF1 P21359 VAR_035544 p.Pro1951Leu US - A colorectal cancer sample NF1 P21359 VAR_035545 p.Gly2745Arg US - A breast cancer sample NF1 P21359 VAR_049135 p.Tyr80Ser LB/B rs4795581 - NF1 P21359 VAR_065236 p.Leu1411Phe LP/P rs199474789 Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] NF1 P21359 VAR_065888 p.Arg160Thr LP/P rs199474752 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_067201 p.Ala330Thr LB/B rs199474767 - NF1 P21359 VAR_067202 p.His393Asp LB/B rs199474768 - NF1 P21359 VAR_067203 p.His393Leu LB/B rs199474769 - NF1 P21359 VAR_067204 p.Gln519Pro LB/B rs199474770 - NF1 P21359 VAR_067205 p.Ala776Thr LB/B rs199474771 - NF1 P21359 VAR_067206 p.Ser1484Phe LB/B rs199474772 - NF1 P21359 VAR_071668 p.Cys93Trp LP/P - Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_071669 p.Trp1048Arg LP/P - Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_071670 p.Gln1189Arg LP/P rs752039618 Neurofibromatosis 1 (NF1) [MIM:162200] NF1 P21359 VAR_071671 p.Leu2125Pro LP/P rs1597843129 Neurofibromatosis 1 (NF1) [MIM:162200] NF2 P35240 VAR_000809 p.Leu46Arg US - - NF2 P35240 VAR_000810 p.Phe62Ser LP/P rs121434261 Schwannomatosis, vestibular (SWNV) [MIM:101000] NF2 P35240 VAR_000811 p.Lys79Glu US - - NF2 P35240 VAR_000813 p.Glu106Gly LP/P - Schwannomatosis, vestibular (SWNV) [MIM:101000] NF2 P35240 VAR_000814 p.Leu117Ile US - - NF2 P35240 VAR_000817 p.Val219Met LB/B rs1555994816 - NF2 P35240 VAR_000818 p.Asn220Tyr LP/P rs1601618646 Schwannomatosis, vestibular (SWNV) [MIM:101000] NF2 P35240 VAR_000819 p.Ile273Phe US - Breast ductal carcinoma NF2 P35240 VAR_000820 p.Leu339Phe US - - NF2 P35240 VAR_000821 p.Thr352Met LP/P rs764441073 Schwannomatosis, vestibular (SWNV) [MIM:101000] NF2 P35240 VAR_000822 p.Leu360Pro LP/P rs74315492 Schwannomatosis, vestibular (SWNV) [MIM:101000] NF2 P35240 VAR_000823 p.Lys364Ile US - Melanoma NF2 P35240 VAR_000824 p.Arg418Cys LB/B rs765540111 - NF2 P35240 VAR_000825 p.Leu535Pro LP/P rs74315493 Schwannomatosis, vestibular (SWNV) [MIM:101000] NF2 P35240 VAR_000826 p.Gln538Pro LP/P rs74315494 Schwannomatosis, vestibular (SWNV) [MIM:101000] NF2 P35240 VAR_009123 p.Leu234Arg LP/P - Schwannomatosis, vestibular (SWNV) [MIM:101000] NF2 P35240 VAR_029041 p.Arg351His LB/B rs771675702 - NF2 P35240 VAR_035848 p.Glu463Lys US rs74315503 A breast cancer sample NF2 P35240 VAR_043011 p.Met77Val LP/P - Schwannomatosis, vestibular (SWNV) [MIM:101000] NF2 P35240 VAR_043012 p.Leu141Pro LP/P - Schwannomatosis, vestibular (SWNV) [MIM:101000] NF2 P35240 VAR_043013 p.Gly197Cys LP/P - Schwannomatosis, vestibular (SWNV) [MIM:101000] NF2 P35240 VAR_043014 p.Lys413Glu LP/P rs766974263 Schwannomatosis, vestibular (SWNV) [MIM:101000] NF2 P35240 VAR_043015 p.Lys533Thr LP/P - Schwannomatosis, vestibular (SWNV) [MIM:101000] NF2 P35240 VAR_043016 p.Leu539His LP/P - Schwannomatosis, vestibular (SWNV) [MIM:101000] NF2 P35240 VAR_043017 p.Lys579Met LP/P - Schwannomatosis, vestibular (SWNV) [MIM:101000] NF2 P35240 VAR_065227 p.Cys133Arg LP/P - Schwannomatosis, vestibular (SWNV) [MIM:101000] NFAM1 Q8NET5 VAR_049964 p.His137Tyr LB/B rs34296033 - NFAM1 Q8NET5 VAR_049965 p.Asn187Lys LB/B rs17003048 - NFASC O94856 VAR_017251 p.Thr159Met LB/B rs3795564 - NFASC O94856 VAR_083116 p.Arg359Pro US - Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) [MIM:618356] NFASC O94856 VAR_083118 p.Val1229Glu US - Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) [MIM:618356] NFATC1 O95644 VAR_036529 p.Ala315Thr US rs779866756 A colorectal cancer sample NFATC1 O95644 VAR_057145 p.Pro68Thr LB/B rs1051978 - NFATC1 O95644 VAR_057146 p.Cys751Gly LB/B rs754093 - NFATC2 Q13469 VAR_051783 p.His446Arg LB/B rs12479626 - NFATC2IP Q8NCF5 VAR_031208 p.Arg33Trp LB/B rs7201257 - NFATC3 Q12968 VAR_051784 p.Ser75Leu LB/B rs2230092 - NFATC3 Q12968 VAR_051785 p.Glu94Ala LB/B rs3743736 - NFATC3 Q12968 VAR_051786 p.Leu100Ser LB/B rs2230093 - NFATC3 Q12968 VAR_051787 p.Pro136Leu LB/B rs2230094 - NFATC3 Q12968 VAR_051788 p.Pro382Ser LB/B rs2230095 - NFATC4 Q14934 VAR_046985 p.Gly160Ala LB/B rs2229309 - NFATC4 Q14934 VAR_046986 p.Ser246Asn LB/B rs2228231 - NFATC4 Q14934 VAR_046987 p.Ser800Pro LB/B rs7149586 - NFE2L1 Q14494 VAR_048440 p.Asp63His LB/B rs2229367 - NFE2L2 Q16236 VAR_020322 p.Ser99Pro LB/B rs5031039 - NFE2L2 Q16236 VAR_032110 p.Arg43Gln LB/B rs35248500 - NFE2L2 Q16236 VAR_032111 p.Val268Met LB/B rs34154613 - NFE2L2 Q16236 VAR_080492 p.Gly31Arg LP/P rs1553488015 Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) [MIM:617744] NFE2L2 Q16236 VAR_080493 p.Glu79Lys LP/P rs1057519922 Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) [MIM:617744] NFE2L2 Q16236 VAR_080494 p.Thr80Lys LP/P rs1553487947 Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) [MIM:617744] NFE2L2 Q16236 VAR_080495 p.Gly81Ser LP/P rs1553487942 Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) [MIM:617744] NFE2L3 Q9Y4A8 VAR_055562 p.Val441Glu LB/B rs2072129 - NFE4 Q86UQ8 VAR_046622 p.Ala45Asp LB/B rs6465886 - NFE4 Q86UQ8 VAR_046623 p.Gln116Arg LB/B rs2228687 - NFIB O00712 VAR_081861 p.Lys114Thr LP/P rs1554709683 Macrocephaly, acquired, with impaired intellectual development (MACID) [MIM:618286] NFIB O00712 VAR_081862 p.Lys126Glu LP/P rs1554709662 Macrocephaly, acquired, with impaired intellectual development (MACID) [MIM:618286] NFIB O00712 VAR_081863 p.Leu132Pro LP/P rs1554709654 Macrocephaly, acquired, with impaired intellectual development (MACID) [MIM:618286] NFIB O00712 VAR_081864 p.Ser356Leu LP/P rs1554639196 Macrocephaly, acquired, with impaired intellectual development (MACID) [MIM:618286] NFIC P08651 VAR_057656 p.Ala417Ser LB/B rs10412720 - NFIX Q14938 VAR_068720 p.Leu60Pro LP/P rs387907254 Malan syndrome (MALNS) [MIM:614753] NFIX Q14938 VAR_068721 p.Arg121Pro LP/P rs387907255 Malan syndrome (MALNS) [MIM:614753] NFIX Q14938 VAR_077571 p.Arg38Cys LP/P - Malan syndrome (MALNS) [MIM:614753] NFIX Q14938 VAR_077572 p.Arg54Pro LP/P - Malan syndrome (MALNS) [MIM:614753] NFIX Q14938 VAR_077573 p.Arg116Pro LP/P - Malan syndrome (MALNS) [MIM:614753] NFIX Q14938 VAR_077574 p.Lys125Glu LP/P - Malan syndrome (MALNS) [MIM:614753] NFKB1 P19838 VAR_016268 p.Thr489Ile LB/B rs4648065 - NFKB1 P19838 VAR_016269 p.Met506Val LB/B rs4648072 - NFKB1 P19838 VAR_016270 p.Thr566Ile LB/B rs4648085 - NFKB1 P19838 VAR_016271 p.Arg578Lys LB/B rs4648086 - NFKB1 P19838 VAR_016272 p.His711Gln LB/B rs4648099 - NFKB1 P19838 VAR_016273 p.Ala901Thr LB/B rs4648118 - NFKB2 Q00653 VAR_022223 p.Glu14Lys LB/B rs45581936 - NFKB2 Q00653 VAR_022224 p.Gly351Arg LB/B rs45580031 - NFKB2 Q00653 VAR_022225 p.Gly452Arg LB/B rs45471103 - NFKB2 Q00653 VAR_051781 p.Ala392Gly LB/B rs11574848 - NFKB2 Q00653 VAR_074035 p.Asp865Gly US rs727502787 Immunodeficiency, common variable, 10 (CVID10) [MIM:615577] NFKB2 Q00653 VAR_074036 p.Ala867Val US rs727502788 Immunodeficiency, common variable, 10 (CVID10) [MIM:615577] NFKBIA P25963 VAR_034871 p.Ser32Ile LP/P rs28933100 Ectodermal dysplasia and immunodeficiency 2 (EDAID2) [MIM:612132] NFKBIB Q15653 VAR_020771 p.Arg339Trp LB/B rs17886215 - NFKBID Q8NI38 VAR_042737 p.Val29Ala LB/B rs8113704 - NFKBIE O00221 VAR_046631 p.His95Gln LB/B rs28362857 - NFKBIE O00221 VAR_046632 p.Val194Ala LB/B rs2233434 - NFKBIL1 Q9UBC1 VAR_017798 p.Arg224Cys LB/B rs3130062 - NFKBIZ Q9BYH8 VAR_039547 p.Thr307Ser LB/B rs3821727 - NFS1 Q9Y697 VAR_085966 p.Arg72Gln LP/P rs200592030 Combined oxidative phosphorylation deficiency 52 (COXPD52) [MIM:619386] NFU1 Q9UMS0 VAR_044429 p.Met25Lys LB/B rs4453725 - NFU1 Q9UMS0 VAR_066639 p.Gly208Cys LP/P rs374514431 Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) [MIM:605711] NFU1 Q9UMS0 VAR_079757 p.Arg21Pro LP/P rs776875884 Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) [MIM:605711] NFU1 Q9UMS0 VAR_079758 p.Arg182Trp LP/P rs1354126704 Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) [MIM:605711] NFU1 Q9UMS0 VAR_079759 p.Gly189Arg LP/P - Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) [MIM:605711] NFU1 Q9UMS0 VAR_079760 p.Gly190Arg US - Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) [MIM:605711] NFX1 Q12986 VAR_043380 p.His731Tyr LB/B rs5017299 - NFX1 Q12986 VAR_043381 p.Pro760Ser LB/B rs2860036 - NFX1 Q12986 VAR_043382 p.Pro1086Gln LB/B rs2274866 - NFXL1 Q6ZNB6 VAR_030869 p.Pro246Leu LB/B rs12651301 - NFYC Q13952 VAR_035702 p.Gln165His US - A breast cancer sample NGDN Q8NEJ9 VAR_051898 p.Val15Leu LB/B rs10149626 - NGDN Q8NEJ9 VAR_051899 p.Lys308Ile LB/B rs17093050 - NGEF Q8N5V2 VAR_027289 p.Arg78Gly LB/B rs2271703 - NGEF Q8N5V2 VAR_027290 p.Met111Thr LB/B rs4973588 - NGF P01138 VAR_013783 p.Ala35Val LB/B rs6330 - NGF P01138 VAR_025553 p.Val72Met LB/B rs11466110 - NGF P01138 VAR_025554 p.Arg80Gln LB/B rs11466111 - NGF P01138 VAR_030659 p.Arg221Trp LP/P rs11466112 Neuropathy, hereditary sensory and autonomic, 5 (HSAN5) [MIM:608654] NGF P01138 VAR_068479 p.Ser187Asn US - - NGFR P08138 VAR_020010 p.Ser205Leu LB/B rs2072446 - NGLY1 Q96IV0 VAR_027385 p.Val581Ile LB/B rs7621398 - NGLY1 Q96IV0 VAR_027386 p.Gln591Arg LB/B rs7635089 - NGRN Q9NPE2 VAR_053905 p.Leu174Phe LB/B rs11073922 - NGRN Q9NPE2 VAR_053906 p.Asp267Gly LB/B rs16944113 - NHEJ1 Q9H9Q4 VAR_025704 p.Arg57Gly LP/P rs118204451 Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291] NHEJ1 Q9H9Q4 VAR_025705 p.Cys123Arg LP/P rs118204452 Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291] NHEJ1 Q9H9Q4 VAR_038790 p.Ala14Thr LB/B rs34689457 - NHEJ1 Q9H9Q4 VAR_038791 p.His89Arg LB/B rs1056296 - NHEJ1 Q9H9Q4 VAR_038792 p.Gln256Leu LB/B rs35270667 - NHERF1 O14745 VAR_034899 p.Leu110Val LP/P rs35910969 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287] NHERF1 O14745 VAR_048021 p.Arg153Gln LP/P rs41282065 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287] NHERF1 O14745 VAR_048022 p.Glu225Lys LP/P rs119486097 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287] NHERF1 O14745 VAR_067661 p.Glu68Ala LP/P rs139622189 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287] NHLH2 Q02577 VAR_086934 p.Ala9Leu US - - NHLH2 Q02577 VAR_086935 p.Val31Met US - Hypogonadotropic hypogonadism 27 without anosmia (HH27) [MIM:619755] NHLH2 Q02577 VAR_086936 p.Arg79Cys US - Hypogonadotropic hypogonadism 27 without anosmia (HH27) [MIM:619755] NHLRC1 Q6VVB1 VAR_019482 p.Cys26Ser LP/P rs28940575 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_019483 p.Phe33Ser LP/P rs757759398 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_019484 p.Pro69Ala LP/P rs28940576 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_019485 p.Leu87Pro LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_019486 p.Pro111Leu LB/B rs10949483 - NHLRC1 Q6VVB1 VAR_019487 p.Asp146Asn LP/P rs769301934 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_019488 p.Gln302Pro LP/P rs757858146 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046387 p.Ser22Arg LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046388 p.Glu67Gln LP/P rs779507031 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046389 p.Cys68Tyr LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046390 p.Leu126Pro LP/P rs950907157 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046391 p.Ile153Met LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046392 p.Cys160Arg LP/P rs200595273 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046393 p.Ile198Asn LP/P rs121917876 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046394 p.Trp219Arg LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046395 p.Asp233Ala LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046396 p.Asp245Asn LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046397 p.Arg253Lys LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046398 p.Pro264His LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046399 p.Leu279Pro LP/P - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046401 p.Asp308Ala LP/P rs137852859 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_070793 p.Cys46Tyr LP/P rs1193718748 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_070794 p.Leu261Pro LP/P rs879745047 Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] NHLRC2 Q8NBF2 VAR_037749 p.Val314Ile LB/B rs7913176 - NHLRC2 Q8NBF2 VAR_081171 p.Asp148Tyr US rs201701259 Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) [MIM:618278] NHLRC3 Q5JS37 VAR_051233 p.Leu221Arg LB/B rs9603498 - NHP2 Q9NX24 VAR_065870 p.Ala118Thr LB/B rs139588879 - NHP2 Q9NX24 VAR_065871 p.Val126Met LP/P rs121908090 Dyskeratosis congenita, autosomal recessive, 2 (DKCB2) [MIM:613987] NHP2 Q9NX24 VAR_065872 p.Tyr139His LP/P rs121908089 Dyskeratosis congenita, autosomal recessive, 2 (DKCB2) [MIM:613987] NHS Q6T4R5 VAR_021527 p.Phe1340Leu LB/B rs3747295 - NHS Q6T4R5 VAR_021528 p.Ser1556Thr LB/B rs2071848 - NHS Q6T4R5 VAR_036225 p.Ala865Thr US rs149609550 A breast cancer sample NHS Q6T4R5 VAR_051234 p.Ser1531Thr LB/B rs2071848 - NHS Q6T4R5 VAR_076261 p.Ala1628Pro LB/B - - NHS Q6T4R5 VAR_076438 p.Arg583Cys LB/B rs753449273 - NHSL1 Q5SYE7 VAR_044055 p.Val1085Met LB/B rs3734305 - NHSL1 Q5SYE7 VAR_044056 p.Gly1585Ser LB/B rs11540147 - NHSL2 Q5HYW2 VAR_044057 p.Thr901Ile LB/B rs7061150 - NHSL3 Q9P206 VAR_037190 p.Pro57Ser LB/B rs11803515 - NHSL3 Q9P206 VAR_037191 p.Ser114Pro LB/B rs3737994 - NHSL3 Q9P206 VAR_037192 p.Met232Val LB/B rs12730560 - NHSL3 Q9P206 VAR_037193 p.Leu310Ile LB/B rs11582639 - NHSL3 Q9P206 VAR_037194 p.Pro770Leu LB/B rs581875 - NHSL3 Q9P206 VAR_037195 p.Glu1021Lys LB/B rs675928 - NHSL3 Q9P206 VAR_088725 p.Arg444Gln US rs541240128 - NIBAN1 Q9BZQ8 VAR_053533 p.Ser633Leu LB/B rs12750174 - NIBAN1 Q9BZQ8 VAR_053534 p.Asp692Asn LB/B rs35704242 - NIBAN1 Q9BZQ8 VAR_053535 p.Val720Met LB/B rs17313374 - NIBAN1 Q9BZQ8 VAR_053536 p.Gly830Ser LB/B rs35601690 - NIBAN3 Q86XR2 VAR_039583 p.Ile229Thr LB/B rs8107859 - NIBAN3 Q86XR2 VAR_039584 p.Leu543Phe LB/B rs10401716 - NIBAN3 Q86XR2 VAR_039585 p.Gly603Ser LB/B rs11666267 - NIBAN3 Q86XR2 VAR_062126 p.Thr493Met LB/B rs45532635 - NID1 P14543 VAR_021904 p.Gln669Arg LB/B rs3738534 - NID1 P14543 VAR_024264 p.Val246Ile LB/B rs10733133 - NID1 P14543 VAR_035835 p.Phe1036Ser US - A colorectal cancer sample NID1 P14543 VAR_055760 p.Arg31Leu LB/B rs2071529 - NID1 P14543 VAR_055761 p.Arg302His LB/B rs16833183 - NID1 P14543 VAR_055762 p.Arg335His LB/B rs34406281 - NID1 P14543 VAR_055763 p.Arg387His LB/B rs16833154 - NID1 P14543 VAR_055764 p.Lys970Glu LB/B rs16833060 - NID1 P14543 VAR_055765 p.Leu1163Val LB/B rs16833032 - NID1 P14543 VAR_055766 p.Thr1226Ile LB/B rs6662744 - NID1 P14543 VAR_058123 p.Ser60Arg LB/B rs17857302 - NID1 P14543 VAR_058124 p.Gln807His LB/B rs3738531 - NID1 P14543 VAR_058125 p.Gln1246Arg LB/B rs3213190 - NID2 Q14112 VAR_035836 p.Pro1238Ser US rs1305582875 A breast cancer sample NID2 Q14112 VAR_055767 p.Asp313Gly LB/B rs17124969 - NID2 Q14112 VAR_055768 p.Pro354His LB/B rs35657569 - NID2 Q14112 VAR_055769 p.Pro529Ser LB/B rs17831525 - NID2 Q14112 VAR_055770 p.Val726Met LB/B rs35147930 - NID2 Q14112 VAR_055771 p.Arg775Gln LB/B rs10134590 - NID2 Q14112 VAR_055772 p.Arg830Gln LB/B rs7144523 - NID2 Q14112 VAR_055773 p.Arg866Gln LB/B rs28507587 - NID2 Q14112 VAR_062850 p.Pro22Gln LB/B rs3920038 - NID2 Q14112 VAR_062851 p.Gly453Asp LB/B rs2101919 - NID2 Q14112 VAR_062852 p.Ser656Pro LB/B rs3742536 - NID2 Q14112 VAR_062853 p.Gly760Val LB/B rs2273430 - NIF3L1 Q9GZT8 VAR_037084 p.Thr324Ile LB/B rs7917 - NIFK Q9BYG3 VAR_027182 p.Pro144Gln LB/B rs17852212 - NIM1K Q8IY84 VAR_040945 p.Arg21Trp LB/B rs55664335 - NIM1K Q8IY84 VAR_040946 p.Glu64Gln LB/B rs55663207 - NIM1K Q8IY84 VAR_040947 p.Leu260Ile LB/B rs35659008 - NIM1K Q8IY84 VAR_040948 p.Met320Ile LB/B rs55770078 - NIM1K Q8IY84 VAR_040949 p.Pro333Ser US rs866026698 A lung neuroendocrine carcinoma sample NIM1K Q8IY84 VAR_040950 p.Pro411Thr US - A lung large cell carcinoma sample NIN Q8N4C6 VAR_019453 p.Pro1111Ala LB/B rs2236316 - NIN Q8N4C6 VAR_019454 p.Gly1320Glu LB/B rs2073347 - NIN Q8N4C6 VAR_019455 p.Ser1837Thr LB/B rs12717411 - NIN Q8N4C6 VAR_051235 p.Gln1125Pro LB/B rs12882191 - NIN Q8N4C6 VAR_051236 p.Gln1934Glu LB/B rs2295847 - NIN Q8N4C6 VAR_069083 p.Gln1222Arg LP/P rs187464517 Seckel syndrome 7 (SCKL7) [MIM:614851] NIN Q8N4C6 VAR_069084 p.Asn1709Ser LP/P rs387907308 Seckel syndrome 7 (SCKL7) [MIM:614851] NINJ1 Q92982 VAR_025549 p.Ala110Asp LB/B rs2275848 - NINL Q9Y2I6 VAR_058509 p.Arg969Gly LB/B rs6115193 - NINL Q9Y2I6 VAR_058510 p.Arg1366His LB/B rs17857107 - NINL Q9Y2I6 VAR_059700 p.Gly79Val LB/B rs6115203 - NINL Q9Y2I6 VAR_059701 p.Ser191Arg LB/B rs34585177 - NINL Q9Y2I6 VAR_059702 p.Arg276Trp LB/B rs13044759 - NINL Q9Y2I6 VAR_059703 p.Thr296Ala LB/B rs379538 - NINL Q9Y2I6 VAR_059704 p.Glu973Lys LB/B rs428801 - NINL Q9Y2I6 VAR_061688 p.Asp1077Asn LB/B rs35666277 - NINL Q9Y2I6 VAR_061689 p.Arg1276Cys LB/B rs41310175 - NIP7 Q9Y221 VAR_036488 p.Glu171Gln US - A breast cancer sample NIPA1 Q7RTP0 VAR_023440 p.Thr45Arg LP/P rs104894496 Spastic paraplegia 6, autosomal dominant (SPG6) [MIM:600363] NIPA1 Q7RTP0 VAR_023441 p.Gly106Arg LP/P rs104894490 Spastic paraplegia 6, autosomal dominant (SPG6) [MIM:600363] NIPA2 Q8N8Q9 VAR_088398 p.Ile178Phe US - - NIPA2 Q8N8Q9 VAR_088399 p.Asn244Ser US - - NIPAL1 Q6NVV3 VAR_026843 p.Ile324Val LB/B rs13116684 - NIPAL4 Q0D2K0 VAR_031736 p.Gly80Val LP/P rs775903553 Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281] NIPAL4 Q0D2K0 VAR_031737 p.Ala114Asp LP/P rs199422217 Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281] NIPAL4 Q0D2K0 VAR_031738 p.Ser146Phe LP/P - Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281] NIPAL4 Q0D2K0 VAR_031739 p.His175Asn LP/P - Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281] NIPAL4 Q0D2K0 VAR_031740 p.Gly235Arg LP/P rs375688767 Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281] NIPAL4 Q0D2K0 VAR_054120 p.Gly168Arg LP/P rs370356566 Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281] NIPAL4 Q0D2K0 VAR_075461 p.Ser73Arg LP/P rs376803325 Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281] NIPBL Q6KC79 VAR_019518 p.Ser135Asn LB/B rs1390490298 - NIPBL Q6KC79 VAR_019519 p.Cys1311Arg LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_019520 p.Leu1348Arg LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_019521 p.Tyr2430Cys LP/P rs121918265 Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021596 p.Asn674Ser LB/B rs3822471 - NIPBL Q6KC79 VAR_021597 p.Ile1206Val LB/B rs587783929 - NIPBL Q6KC79 VAR_021598 p.Ala1246Gly LP/P rs121918268 Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021599 p.Leu1312Pro LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021600 p.Arg1789Leu LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021601 p.Asp1803Val LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021602 p.Arg1856Thr LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021603 p.Arg2298Cys LP/P rs80358376 Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021604 p.Arg2298His LP/P rs587784024 Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021605 p.Gly2312Arg LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021606 p.Gly2381Ala LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021607 p.Ala2390Thr LP/P rs587784036 Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021608 p.Tyr2440His LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_036164 p.Glu1647Lys US - A breast cancer sample NIPBL Q6KC79 VAR_038411 p.Ser261Ala LB/B rs16903425 - NIPBL Q6KC79 VAR_038412 p.Asn384Ser LB/B rs2291703 - NIPBL Q6KC79 VAR_064545 p.Gly2081Ala LP/P rs587784000 Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_064546 p.Ser2090Ile LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_064547 p.Leu2150Pro LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_072996 p.Gly15Arg LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_072997 p.Pro29Gln LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_072998 p.Asn70Ile LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_072999 p.Ser73Leu US - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073000 p.Ser111Thr LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073001 p.Ala179Ser LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073002 p.Ala179Thr LP/P rs142923613 Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073003 p.Pro192Leu LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073004 p.Asp246Gly LP/P rs587784042 Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073005 p.Leu254Val LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073006 p.Pro351Thr LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073007 p.Lys357Asn LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073008 p.Arg868Gln LP/P rs149629686 Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073009 p.Glu1207Lys LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073010 p.His1343Pro LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073011 p.Val1441Leu LP/P rs727503769 Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073012 p.Val1625Phe LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073013 p.Ile1637Leu LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073014 p.Asn1722His LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073015 p.Cys2091Phe LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073017 p.Gly2312Val LP/P rs587784025 Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_073018 p.Asp2433Asn LP/P - Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPSNAP1 Q9BPW8 VAR_011630 p.Glu245Lys LB/B rs1058646 - NIPSNAP3A Q9UFN0 VAR_020442 p.Arg100Gln LB/B rs2274870 - NIPSNAP3B Q9BS92 VAR_050277 p.Ala94Pro LB/B rs10761084 - NIPSNAP3B Q9BS92 VAR_050278 p.Lys154Glu LB/B rs3739740 - NIPSNAP3B Q9BS92 VAR_050279 p.Ala159Gly LB/B rs3739741 - NISCH Q9Y2I1 VAR_046130 p.Val299Ile LB/B rs9856575 - NISCH Q9Y2I1 VAR_046131 p.Ala1056Val LB/B rs887515 - NIT2 Q9NQR4 VAR_039180 p.Val231Ala LB/B rs17851799 - NKAIN3 Q8N8D7 VAR_029583 p.Val140Ile LB/B rs4739003 - NKAIN4 Q8IVV8 VAR_037051 p.Lys91Gln LB/B rs1129659 - NKAIN4 Q8IVV8 VAR_037052 p.Ala131Asp LB/B rs2236194 - NKAIN4 Q8IVV8 VAR_037053 p.Cys151Gly LB/B rs872808 - NKAIN4 Q8IVV8 VAR_037054 p.Glu173Asp LB/B rs11556207 - NKAP Q8N5F7 VAR_053799 p.Pro115His LB/B rs34728541 - NKAP Q8N5F7 VAR_083895 p.Arg330Cys LP/P rs1603379781 Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type (MRXSHD) [MIM:301039] NKAP Q8N5F7 VAR_083896 p.Arg330His LP/P rs1603379780 Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type (MRXSHD) [MIM:301039] NKAP Q8N5F7 VAR_083897 p.Arg333Gln US rs1603379779 Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type (MRXSHD) [MIM:301039] NKAP Q8N5F7 VAR_083898 p.Ile337Thr LP/P rs1603379772 Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type (MRXSHD) [MIM:301039] NKAP Q8N5F7 VAR_083899 p.Arg361Gln US rs1603379318 Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type (MRXSHD) [MIM:301039] NKAPL Q5M9Q1 VAR_028999 p.Tyr96Cys LB/B rs12000 - NKAPL Q5M9Q1 VAR_029000 p.Thr152Asn LB/B rs1635 - NKAPL Q5M9Q1 VAR_029001 p.His162Tyr LB/B rs9461446 - NKAPL Q5M9Q1 VAR_029002 p.Glu398Gly LB/B rs1679709 - NKD2 Q969F2 VAR_034934 p.Thr257Lys LB/B rs35679233 - NKPD1 Q17RQ9 VAR_033146 p.Val118Leu LB/B rs3810144 - NKTR P30414 VAR_051773 p.Leu861Val LB/B rs33969824 - NKTR P30414 VAR_051774 p.Ser935Leu LB/B rs35770315 - NKTR P30414 VAR_061765 p.Val271Gly LB/B rs35726114 - NKTR P30414 VAR_061766 p.Met1182Thr LB/B rs34897686 - NKX2-1 P43699 VAR_015188 p.Trp208Leu LP/P rs28936672 Chorea, hereditary benign (BHC) [MIM:118700] NKX2-1 P43699 VAR_015189 p.Arg213Ser LP/P rs28936671 Chorea, hereditary benign (BHC) [MIM:118700] NKX2-1 P43699 VAR_034906 p.Val205Phe LP/P rs137852692 Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) [MIM:610978] NKX2-1 P43699 VAR_073040 p.Thr203Arg LP/P - Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) [MIM:610978] NKX2-1 P43699 VAR_075209 p.Gln172His LP/P - Chorea, hereditary benign (BHC) [MIM:118700] NKX2-1 P43699 VAR_075210 p.Trp208Ser LP/P - Chorea, hereditary benign (BHC) [MIM:118700] NKX2-1 P43699 VAR_075769 p.Ala339Val LP/P rs537209983 Thyroid cancer, non-medullary, 1 (NMTC1) [MIM:188550] NKX2-1 P43699 VAR_077542 p.Arg179Pro US - Chorea, hereditary benign (BHC) [MIM:118700] NKX2-5 P52952 VAR_003752 p.Thr178Met LP/P rs104893900 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_010116 p.Arg25Cys US rs28936670 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_010116 p.Arg25Cys US rs28936670 Conotruncal heart malformations (CTHM) [MIM:217095] NKX2-5 P52952 VAR_010116 p.Arg25Cys US rs28936670 Hypoplastic left heart syndrome 2 (HLHS2) [MIM:614435] NKX2-5 P52952 VAR_010116 p.Arg25Cys US rs28936670 Hypothyroidism, congenital, non-goitrous, 5 (CHNG5) [MIM:225250] NKX2-5 P52952 VAR_010116 p.Arg25Cys US rs28936670 Tetralogy of Fallot (TOF) [MIM:187500] NKX2-5 P52952 VAR_010117 p.Asn188Lys LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_010118 p.Arg189Gly LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_010119 p.Tyr191Cys LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038212 p.Leu7Pro LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038213 p.Lys15Ile LP/P rs387906773 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038214 p.Asn19Ser LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038215 p.Glu21Gln LP/P rs104893904 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038215 p.Glu21Gln LP/P rs104893904 Tetralogy of Fallot (TOF) [MIM:187500] NKX2-5 P52952 VAR_038216 p.Gln22Pro LP/P rs201442000 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038216 p.Gln22Pro LP/P rs201442000 Tetralogy of Fallot (TOF) [MIM:187500] NKX2-5 P52952 VAR_038217 p.Ser45Pro LP/P rs779548360 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038218 p.Phe51Leu LP/P rs753937287 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038219 p.Ala63Val LP/P rs530270916 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038220 p.Leu69Pro LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038221 p.Pro77Leu LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038222 p.Cys114Arg LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038223 p.Cys114Ser LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038224 p.Lys118Arg LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038225 p.Lys124Arg LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038226 p.Glu126Val LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038227 p.Ala127Glu LP/P rs387906774 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038228 p.Pro133Ser LP/P rs1184594159 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038229 p.Ala135Thr LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038230 p.Arg142Cys LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038231 p.Leu144Pro LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038232 p.Lys183Glu LP/P rs137852686 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038233 p.Gln187His LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038234 p.Arg190Cys LP/P rs104893906 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038235 p.Lys192Arg LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038236 p.Lys192Thr LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038237 p.Lys194Arg LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038238 p.Val205Glu LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038239 p.Arg216Cys LP/P rs104893905 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038239 p.Arg216Cys LP/P rs104893905 Tetralogy of Fallot (TOF) [MIM:187500] NKX2-5 P52952 VAR_038240 p.Ala219Val LP/P rs104893902 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038240 p.Ala219Val LP/P rs104893902 Tetralogy of Fallot (TOF) [MIM:187500] NKX2-5 P52952 VAR_038241 p.Asp226Asn LP/P rs760528062 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038242 p.Tyr248His LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038243 p.Pro275Thr LP/P rs368366482 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038244 p.Ser279Phe LP/P rs1223599871 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038245 p.Ser279Pro LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038246 p.Ala281Val LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038247 p.Ala286Val LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038248 p.Asn294His LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038249 p.Asp299Gly LP/P rs137852683 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038250 p.Ser305Gly LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038251 p.Gly320Ser LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038252 p.Arg322Gln LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038253 p.Ala323Thr LP/P - Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038253 p.Ala323Thr LP/P - Tetralogy of Fallot (TOF) [MIM:187500] NKX2-5 P52952 VAR_047869 p.Ala119Ser LP/P rs137852684 Hypothyroidism, congenital, non-goitrous, 5 (CHNG5) [MIM:225250] NKX2-5 P52952 VAR_047870 p.Arg161Pro LP/P rs137852685 Hypothyroidism, congenital, non-goitrous, 5 (CHNG5) [MIM:225250] NKX2-5 P52952 VAR_049581 p.Asp16Ala LB/B rs17052019 - NKX2-5 P52952 VAR_067586 p.Pro59Ala LP/P rs387906775 Ventricular septal defect 3 (VSD3) [MIM:614432] NKX2-5 P52952 VAR_067587 p.Pro283Gln LP/P rs375086983 Ventricular septal defect 3 (VSD3) [MIM:614432] NKX2-5 P52952 VAR_069058 p.Gly74Asp LB/B rs201362118 - NKX2-5 P52952 VAR_069590 p.Pro236His US rs397515399 - NKX2-6 A6NCS4 VAR_063278 p.Phe151Leu LP/P rs267606914 Conotruncal heart malformations (CTHM) [MIM:217095] NKX2-6 A6NCS4 VAR_073164 p.Lys152Gln LP/P - Conotruncal heart malformations (CTHM) [MIM:217095] NKX2-6 A6NCS4 VAR_073165 p.Val176Ala LP/P - Conotruncal heart malformations (CTHM) [MIM:217095] NKX2-8 O15522 VAR_003753 p.Asp16Ala LB/B - - NKX3-1 Q99801 VAR_011612 p.Arg52Cys LB/B rs2228013 - NKX6-2 Q9C056 VAR_034878 p.Val209Ala LB/B rs2804003 - NKX6-2 Q9C056 VAR_079481 p.Leu163Val US rs1131692048 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy (SPAX8) [MIM:617560] NLE1 Q9NVX2 VAR_035886 p.Gln319Lys US rs75635495 A breast cancer sample NLE1 Q9NVX2 VAR_057616 p.Tyr406His LB/B rs2306513 - NLE1 Q9NVX2 VAR_057617 p.Ser434Asn LB/B rs2306512 - NLE1 Q9NVX2 VAR_060327 p.Pro6Ala LB/B rs1471615 - NLE1 Q9NVX2 VAR_060328 p.Arg169Lys LB/B rs7215209 - NLGN1 Q8N2Q7 VAR_084196 p.Pro89Leu LP/P rs1751123722 Autism 20 (AUTS20) [MIM:618830] NLGN1 Q8N2Q7 VAR_084197 p.Thr90Ile US - Autism 20 (AUTS20) [MIM:618830] NLGN1 Q8N2Q7 VAR_084198 p.Leu309Pro LP/P - Autism 20 (AUTS20) [MIM:618830] NLGN1 Q8N2Q7 VAR_084199 p.Gly337Glu LP/P - Autism 20 (AUTS20) [MIM:618830] NLGN1 Q8N2Q7 VAR_084200 p.Arg756His US - - NLGN1 Q8N2Q7 VAR_084201 p.His835Tyr LP/P - Autism 20 (AUTS20) [MIM:618830] NLGN3 Q9NZ94 VAR_015668 p.Arg451Cys LP/P - Autism, X-linked 1 (AUTSX1) [MIM:300425] NLGN3 Q9NZ94 VAR_068887 p.Ser92Tyr LB/B rs17854698 - NLGN3 Q9NZ94 VAR_068888 p.Leu718Ile LB/B rs17854697 - NLGN3 Q9NZ94 VAR_068889 p.Gly751Trp LB/B rs17857400 - NLGN3 Q9NZ94 VAR_068890 p.Gly778Ser LB/B rs17857401 - NLGN4X Q8N0W4 VAR_036576 p.Gly214Ser US rs749477993 A colorectal cancer sample NLK Q9UBE8 VAR_019549 p.Val177Ala LB/B rs11871287 - NLK Q9UBE8 VAR_042273 p.Ala343Thr US - A glioblastoma multiforme sample NLN Q9BYT8 VAR_024594 p.Pro704Ser LB/B rs6860508 - NLN Q9BYT8 VAR_054002 p.Ser323Gly LB/B rs34063558 - NLN Q9BYT8 VAR_054003 p.Lys372Arg LB/B rs6863012 - NLN Q9BYT8 VAR_054004 p.Ser417Gly LB/B rs2289884 - NLN Q9BYT8 VAR_062224 p.Gly79Ser LB/B rs34339013 - NLRC3 Q7RTR2 VAR_034606 p.Val567Met LB/B rs8057436 - NLRC4 Q9NPP4 VAR_072484 p.Thr337Ser LP/P rs587777840 Autoinflammation with infantile enterocolitis (AIFEC) [MIM:616050] NLRC4 Q9NPP4 VAR_072485 p.Val341Ala LP/P rs587781260 Autoinflammation with infantile enterocolitis (AIFEC) [MIM:616050] NLRC4 Q9NPP4 VAR_072645 p.His443Pro LP/P rs606231460 Familial cold autoinflammatory syndrome 4 (FCAS4) [MIM:616115] NLRC5 Q86WI3 VAR_034607 p.Ser210Leu LB/B rs16965150 - NLRC5 Q86WI3 VAR_034608 p.Pro453Leu LB/B rs9938543 - NLRC5 Q86WI3 VAR_034609 p.Cys500Arg LB/B rs28438857 - NLRC5 Q86WI3 VAR_034610 p.Ser833Asn LB/B rs35534915 - NLRC5 Q86WI3 VAR_034611 p.Gln1105Lys LB/B rs289723 - NLRC5 Q86WI3 VAR_034612 p.Val1455Ala LB/B rs7190199 - NLRC5 Q86WI3 VAR_034613 p.Gln1466Arg LB/B rs7185320 - NLRC5 Q86WI3 VAR_036388 p.Met361Ile US - A breast cancer sample NLRC5 Q86WI3 VAR_060589 p.Asn907Asp LB/B rs1672867 - NLRP1 Q9C000 VAR_020437 p.Arg1366Cys LB/B rs2137722 - NLRP1 Q9C000 VAR_021886 p.Arg404Gln LB/B rs3744718 - NLRP1 Q9C000 VAR_024238 p.Thr246Ser LB/B rs11651595 - NLRP1 Q9C000 VAR_024239 p.Val1059Met LB/B rs2301582 - NLRP1 Q9C000 VAR_033239 p.Leu155His LB/B rs12150220 - NLRP1 Q9C000 VAR_033240 p.Thr878Met LB/B rs11657747 - NLRP1 Q9C000 VAR_033241 p.His1069Tyr LB/B rs9907167 - NLRP1 Q9C000 VAR_033242 p.Met1119Val LB/B rs35596958 - NLRP1 Q9C000 VAR_033243 p.Met1184Val LB/B rs11651270 - NLRP1 Q9C000 VAR_033244 p.Val1241Leu LB/B rs11653832 - NLRP1 Q9C000 VAR_069901 p.Met77Thr LP/P rs397514692 Palmoplantar carcinoma, multiple self-healing (MSPC) [MIM:615225] NLRP1 Q9C000 VAR_078798 p.Ala54Thr LP/P rs1057519492 Palmoplantar carcinoma, multiple self-healing (MSPC) [MIM:615225] NLRP1 Q9C000 VAR_078799 p.Ala66Val LP/P rs1057519493 Palmoplantar carcinoma, multiple self-healing (MSPC) [MIM:615225] NLRP1 Q9C000 VAR_078800 p.Arg726Trp US rs776245016 Autoinflammation with arthritis and dyskeratosis (AIADK) [MIM:617388] NLRP1 Q9C000 VAR_078802 p.Pro1214Arg LP/P rs1057524876 Autoinflammation with arthritis and dyskeratosis (AIADK) [MIM:617388] NLRP1 Q9C000 VAR_083844 p.Thr755Asn LP/P - Respiratory papillomatosis, juvenile recurrent, congenital (JRRP) [MIM:618803] NLRP11 P59045 VAR_057710 p.Pro438Leu LB/B rs12461110 - NLRP11 P59045 VAR_060212 p.Ala188Ser LB/B rs299163 - NLRP11 P59045 VAR_062141 p.Asn233Asp LB/B rs59244027 - NLRP12 P59046 VAR_053620 p.Gly39Val LB/B rs34436714 - NLRP12 P59046 VAR_053621 p.Phe402Leu LB/B rs34971363 - NLRP13 Q86W25 VAR_031707 p.Gln247Arg LB/B rs303997 - NLRP13 Q86W25 VAR_031708 p.Asn781Ser LB/B rs17711239 - NLRP14 Q86W24 VAR_024180 p.Glu808Lys LB/B rs10839708 - NLRP14 Q86W24 VAR_031932 p.Asn48Thr LB/B rs12801277 - NLRP14 Q86W24 VAR_031933 p.Arg55Gln LB/B rs61063081 - NLRP14 Q86W24 VAR_031934 p.Asp86Val LB/B rs199735773 - NLRP14 Q86W24 VAR_031935 p.Lys92Arg LB/B rs16921697 - NLRP14 Q86W24 VAR_031936 p.Ser98Leu LB/B rs117823353 - NLRP14 Q86W24 VAR_031937 p.Ala375Thr LB/B rs368562565 - NLRP14 Q86W24 VAR_031938 p.Thr397Ile LB/B rs76670455 - NLRP14 Q86W24 VAR_031939 p.Val441Met LB/B rs147389856 - NLRP14 Q86W24 VAR_031940 p.Asp522Gly LB/B rs1044378174 - NLRP14 Q86W24 VAR_031941 p.Ser951Thr LB/B rs117124176 - NLRP14 Q86W24 VAR_031942 p.Leu954Ser LB/B rs117583918 - NLRP14 Q86W24 VAR_031943 p.Leu1010Phe LB/B rs17280682 - NLRP14 Q86W24 VAR_031944 p.Met1019Ile LB/B rs115776642 - NLRP14 Q86W24 VAR_036387 p.Ser779Cys US - A breast cancer sample NLRP14 Q86W24 VAR_053622 p.Glu21Lys LB/B rs11041150 - NLRP14 Q86W24 VAR_053623 p.Leu511Phe LB/B rs11041151 - NLRP2 Q9NX02 VAR_020006 p.Ala1052Glu LB/B rs1043673 - NLRP2 Q9NX02 VAR_025011 p.Arg364Lys LB/B rs4306647 - NLRP2 Q9NX02 VAR_053616 p.Thr221Met LB/B rs17699678 - NLRP2 Q9NX02 VAR_053617 p.Glu302Gln LB/B rs3745904 - NLRP2 Q9NX02 VAR_062140 p.Gly884Arg LB/B rs59779270 - NLRP2 Q9NX02 VAR_068977 p.Thr516Ala LB/B rs61735082 - NLRP2 Q9NX02 VAR_068978 p.Glu522Gly LB/B rs61735083 - NLRP2 Q9NX02 VAR_068979 p.Thr529Ala LB/B rs34804158 - NLRP2 Q9NX02 VAR_084586 p.Trp175Cys US - Oocyte/zygote/embryo maturation arrest 18 (OZEMA18) [MIM:620332] NLRP2 Q9NX02 VAR_084587 p.Phe258Ser US rs1194295774 Oocyte/zygote/embryo maturation arrest 18 (OZEMA18) [MIM:620332] NLRP2 Q9NX02 VAR_084588 p.Glu616Val US rs1471763280 Oocyte/zygote/embryo maturation arrest 18 (OZEMA18) [MIM:620332] NLRP2 Q9NX02 VAR_084591 p.Glu848Asp US - Oocyte/zygote/embryo maturation arrest 18 (OZEMA18) [MIM:620332] NLRP3 Q96P20 VAR_013227 p.Val200Met LP/P rs121908147 Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100] NLRP3 Q96P20 VAR_013227 p.Val200Met LP/P rs121908147 Muckle-Wells syndrome (MWS) [MIM:191900] NLRP3 Q96P20 VAR_013228 p.Ala354Val LP/P rs121908149 Muckle-Wells syndrome (MWS) [MIM:191900] NLRP3 Q96P20 VAR_013229 p.Ala441Val LP/P rs121908146 Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100] NLRP3 Q96P20 VAR_013230 p.Glu629Gly LP/P rs121908148 Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100] NLRP3 Q96P20 VAR_014104 p.Arg262Trp LP/P rs121908150 Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100] NLRP3 Q96P20 VAR_014104 p.Arg262Trp LP/P rs121908150 Muckle-Wells syndrome (MWS) [MIM:191900] NLRP3 Q96P20 VAR_014105 p.Asp305Asn LP/P rs121908153 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_014105 p.Asp305Asn LP/P rs121908153 Muckle-Wells syndrome (MWS) [MIM:191900] NLRP3 Q96P20 VAR_014106 p.Phe311Ser LP/P rs121908154 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_014107 p.Gly571Arg LP/P rs121908151 Muckle-Wells syndrome (MWS) [MIM:191900] NLRP3 Q96P20 VAR_014108 p.Phe575Ser LP/P rs121908152 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_014124 p.Leu307Pro LP/P rs180177431 Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100] NLRP3 Q96P20 VAR_014124 p.Leu307Pro LP/P rs180177431 Muckle-Wells syndrome (MWS) [MIM:191900] NLRP3 Q96P20 VAR_014366 p.Thr350Met LP/P rs151344629 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_014366 p.Thr350Met LP/P rs151344629 Muckle-Wells syndrome (MWS) [MIM:191900] NLRP3 Q96P20 VAR_014367 p.His360Arg LP/P rs180177434 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_014368 p.Thr438Asn LP/P rs180177433 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_014369 p.Ala441Thr LP/P rs180177430 Muckle-Wells syndrome (MWS) [MIM:191900] NLRP3 Q96P20 VAR_014370 p.Met664Thr LP/P rs180177435 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_023551 p.Tyr861Cys LP/P rs180177452 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_031853 p.Phe525Cys LP/P rs180177478 Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100] NLRP3 Q96P20 VAR_043679 p.Ile174Thr LP/P rs180177449 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043680 p.Arg262Leu LP/P rs180177442 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043681 p.Arg262Pro LP/P rs180177442 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043682 p.Leu266His LP/P rs180177436 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043683 p.Asp305Gly LP/P rs180177447 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043684 p.Gln308Lys LP/P rs180177432 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043685 p.Leu355Pro LP/P rs28937896 Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100] NLRP3 Q96P20 VAR_043686 p.Glu356Asp LP/P rs180177444 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043687 p.Thr407Pro LP/P rs180177445 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043688 p.Thr438Ile LP/P rs180177433 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043689 p.Arg490Lys LP/P rs145268073 Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100] NLRP3 Q96P20 VAR_043690 p.Phe525Leu LP/P rs180177439 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043691 p.Tyr572Cys LP/P rs180177438 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043692 p.Leu634Phe LP/P rs180177446 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043693 p.Gln705Lys LB/B rs35829419 - NLRP3 Q96P20 VAR_080490 p.Asp21His LP/P rs200154873 Keratoendothelitis fugax hereditaria (KEFH) [MIM:148200] NLRP3 Q96P20 VAR_081008 p.Arg920Gln US rs1553293095 Deafness, autosomal dominant, 34, with or without inflammation (DFNA34) [MIM:617772] NLRP4 Q96MN2 VAR_020007 p.Gln925Leu LB/B rs302453 - NLRP4 Q96MN2 VAR_024179 p.Ala144Thr LB/B rs441827 - NLRP4 Q96MN2 VAR_024827 p.Glu383Asp LB/B rs17857373 - NLRP4 Q96MN2 VAR_024828 p.Pro390Gln LB/B rs17857374 - NLRP4 Q96MN2 VAR_024829 p.Leu774Met LB/B rs17854614 - NLRP4 Q96MN2 VAR_032764 p.Arg708His LB/B rs12462372 - NLRP5 P59047 VAR_060095 p.Met459Ile LB/B rs471979 - NLRP5 P59047 VAR_060096 p.His584Pro LB/B rs34395092 - NLRP5 P59047 VAR_060097 p.Arg761Leu LB/B rs17713875 - NLRP5 P59047 VAR_060098 p.Met912Thr LB/B rs16986899 - NLRP5 P59047 VAR_060099 p.Ala1097Thr LB/B rs3103057 - NLRP5 P59047 VAR_060100 p.Ser1108Cys LB/B rs12462795 - NLRP5 P59047 VAR_060101 p.Val1181Ile LB/B rs10409555 - NLRP5 P59047 VAR_060102 p.Arg1195Gln LB/B rs36118060 - NLRP5 P59047 VAR_084173 p.Arg143Pro US rs746147069 Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) [MIM:620333] NLRP5 P59047 VAR_084174 p.Arg462Cys US rs199475775 Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) [MIM:620333] NLRP5 P59047 VAR_084175 p.Arg635Cys US rs373407667 Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) [MIM:620333] NLRP5 P59047 VAR_084176 p.Ser893Thr US rs769920247 Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) [MIM:620333] NLRP5 P59047 VAR_084570 p.Val23Asp US rs753824534 - NLRP5 P59047 VAR_084571 p.Met52Thr US rs752189640 - NLRP5 P59047 VAR_084572 p.Glu76Gln US rs758399773 - NLRP5 P59047 VAR_084574 p.Gly289Glu US - Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) [MIM:620333] NLRP5 P59047 VAR_084576 p.Pro354Leu US rs763987829 Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) [MIM:620333] NLRP5 P59047 VAR_084577 p.Arg533Cys US rs754695863 - NLRP5 P59047 VAR_084578 p.Arg533Pro US rs752560793 Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) [MIM:620333] NLRP5 P59047 VAR_084579 p.Gly555Val US - - NLRP5 P59047 VAR_084580 p.Leu640Arg US - Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) [MIM:620333] NLRP5 P59047 VAR_084581 p.Thr694Ile US - Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) [MIM:620333] NLRP5 P59047 VAR_084582 p.Cys774Arg US rs370837790 - NLRP5 P59047 VAR_084584 p.Thr1107Ile US rs1381057964 Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) [MIM:620333] NLRP5 P59047 VAR_088463 p.Met324Lys US - Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) [MIM:620333] NLRP5 P59047 VAR_088464 p.Pro401Leu US - Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) [MIM:620333] NLRP5 P59047 VAR_088465 p.Leu793Arg US - Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) [MIM:620333] NLRP5 P59047 VAR_088466 p.Leu1114Pro US - Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) [MIM:620333] NLRP5 P59047 VAR_088467 p.Leu1116Trp US - Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) [MIM:620333] NLRP6 P59044 VAR_058968 p.Met163Leu LB/B rs6421985 - NLRP6 P59044 VAR_058969 p.Tyr361Phe LB/B rs7482965 - NLRP6 P59044 VAR_079497 p.Ala713Val LB/B rs966612159 - NLRP7 Q8WX94 VAR_026710 p.Val319Ile US rs775882 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_026711 p.Arg693Pro LP/P rs104895502 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_026712 p.Arg693Trp LP/P rs104895506 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_026713 p.Asn913Ser LP/P rs104895503 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_026714 p.Thr971Ala LB/B rs7256020 - NLRP7 Q8WX94 VAR_059035 p.Leu398Arg LP/P rs104895548 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_059036 p.Pro651Ser LP/P rs104895549 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_059037 p.Arg693Gln LP/P rs104895502 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_059038 p.Pro716Ala LP/P rs104895550 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_059039 p.Arg721Trp LP/P rs104895525 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_059040 p.Cys761Tyr LP/P rs104895552 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_060103 p.Gly487Glu LB/B rs775881 - NLRP7 Q8WX94 VAR_085072 p.Gln310Arg US rs77812009 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_085073 p.Leu311Ile US rs79513034 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_085074 p.Lys379Asn US rs10418277 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_085075 p.Ala481Thr US rs61747414 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_085076 p.Lys511Arg US rs61743949 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_085077 p.Ala719Val US rs104895526 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_085078 p.Asn799Thr US - Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090] NLRP8 Q86W28 VAR_031452 p.Pro25Leu LB/B rs306507 - NLRP8 Q86W28 VAR_031453 p.Val116Leu LB/B rs306506 - NLRP8 Q86W28 VAR_031454 p.Ala234Thr LB/B rs11880691 - NLRP8 Q86W28 VAR_031455 p.Gln268Arg LB/B rs7259764 - NLRP8 Q86W28 VAR_031456 p.Gln367Glu LB/B rs11880748 - NLRP8 Q86W28 VAR_031457 p.Val782Ala LB/B rs306496 - NLRP8 Q86W28 VAR_031458 p.Lys937Arg LB/B rs306481 - NLRP8 Q86W28 VAR_036383 p.Pro126Arg US rs61739987 A breast cancer sample NLRP8 Q86W28 VAR_036384 p.Glu375Val US - A breast cancer sample NLRP8 Q86W28 VAR_036385 p.Gln1045Leu US - A colorectal cancer sample NLRP8 Q86W28 VAR_053618 p.Ala543Val LB/B rs41391053 - NLRP8 Q86W28 VAR_053619 p.Arg651Trp LB/B rs41481648 - NLRP9 Q7RTR0 VAR_036386 p.Gly425Asp US - A breast cancer sample NLRX1 Q86UT6 VAR_034614 p.Pro63Ser LB/B rs643423 - NLRX1 Q86UT6 VAR_034615 p.Arg125Leu LB/B rs3809045 - NLRX1 Q86UT6 VAR_034616 p.Ala793Glu LB/B rs4245191 - NLRX1 Q86UT6 VAR_034617 p.Ala843Ser LB/B rs35500631 - NMB P08949 VAR_060369 p.Pro73Thr LB/B rs1051168 - NMBR P28336 VAR_044513 p.Leu390Met LB/B rs7453944 - NMD3 Q96D46 VAR_039546 p.Glu6Lys LB/B rs12490341 - NME1 P15531 VAR_004625 p.Ser120Gly LB/B rs121917887 - NME8 Q8N427 VAR_022766 p.Cys208Arg LB/B rs10250905 - NME8 Q8N427 VAR_032948 p.Arg43Lys LB/B rs2722372 - NME8 Q8N427 VAR_036171 p.Ile289Thr US - A breast cancer sample NME8 Q8N427 VAR_061898 p.Ile493Thr LB/B rs56128139 - NMI Q13287 VAR_028190 p.Ser16Leu LB/B rs1048135 - NMNAT1 Q9HAN9 VAR_068856 p.Val9Met LP/P rs387907294 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068857 p.Ala13Thr LP/P rs138613460 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068858 p.Ile20Asn LP/P rs761948762 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068859 p.Asp33Gly LP/P - Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068860 p.Met35Thr LP/P - Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068861 p.Ala54Val LP/P rs760965874 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068862 p.Arg66Trp LP/P rs763325435 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068863 p.Val67Phe LP/P rs756903689 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068864 p.Met69Val LP/P rs372066126 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068865 p.Leu72His LP/P - Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068866 p.Val98Gly LP/P rs771336246 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068867 p.Ala147Pro LP/P - Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068868 p.Val151Phe LP/P rs387907292 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068869 p.Leu153Pro LP/P - Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068870 p.Leu153Val LP/P rs387907293 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068871 p.Gly156Arg LP/P rs1244511644 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068872 p.Asp173Gly LP/P - Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068873 p.Val178Met LP/P rs757724544 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068874 p.Tyr181Cys LP/P rs748913297 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068875 p.Ile184Met LP/P - Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068876 p.Arg207Trp LP/P rs142968179 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068877 p.Ile217Asn LP/P - Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068878 p.Arg237Cys LP/P rs375110174 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068879 p.Arg237Leu LP/P rs368062092 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068880 p.Leu239Ser LP/P rs778606847 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068881 p.His251Pro LP/P rs1208495291 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068882 p.Glu257Lys LP/P rs150726175 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMNAT1 Q9HAN9 VAR_068883 p.Asn273Asp LP/P rs387907291 Leber congenital amaurosis 9 (LCA9) [MIM:608553] NMRAL1 Q9HBL8 VAR_030689 p.Thr23Ile LB/B rs11557236 - NMRAL1 Q9HBL8 VAR_030690 p.Pro252Leu LB/B rs3747582 - NMRK2 Q9NPI5 VAR_024549 p.Glu178Lys LB/B rs16992131 - NMS Q5H8A3 VAR_029495 p.Pro6Ser LB/B rs13411940 - NMT1 P30419 VAR_050286 p.Gln61Lys LB/B rs3087878 - NMU P48645 VAR_053538 p.Glu79Gly LB/B rs35892915 - NMU P48645 VAR_053539 p.Phe148Leu LB/B rs12108463 - NMUR2 Q9GZQ4 VAR_023941 p.Ser298Thr LB/B rs4958535 - NMUR2 Q9GZQ4 VAR_023942 p.Phe315Leu LB/B rs1895245 - NMUR2 Q9GZQ4 VAR_023943 p.Met388Val LB/B rs4958531 - NMUR2 Q9GZQ4 VAR_023944 p.Ala395Thr LB/B rs1363422 - NMUR2 Q9GZQ4 VAR_032770 p.Pro383Leu LB/B rs4958532 - NNT Q13423 VAR_068781 p.Ser193Asn LP/P rs867004061 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736] NNT Q13423 VAR_068782 p.Thr357Ala LP/P rs1447408865 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736] NNT Q13423 VAR_068783 p.His365Pro LP/P - Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736] NNT Q13423 VAR_068784 p.Pro437Leu LP/P rs781183677 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736] NNT Q13423 VAR_068785 p.Ala533Val LP/P rs387907232 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736] NNT Q13423 VAR_068786 p.Gly664Arg LP/P rs371979800 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736] NNT Q13423 VAR_068787 p.Gly678Arg LP/P - Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736] NNT Q13423 VAR_068788 p.Gly862Asp LP/P rs1474421419 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736] NNT Q13423 VAR_068789 p.Leu977Pro LP/P rs387907233 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736] NNT Q13423 VAR_068790 p.Ala1008Pro LP/P rs387907234 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736] NNT Q13423 VAR_068791 p.Asn1009Lys LP/P rs370273690 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736] NOA1 Q8NC60 VAR_025941 p.Ala153Ser LB/B rs3733306 - NOA1 Q8NC60 VAR_025942 p.Lys450Arg LB/B rs11553077 - NOA1 Q8NC60 VAR_035500 p.Gln579Arg US - A breast cancer sample NOB1 Q9ULX3 VAR_050287 p.Arg231Gln LB/B rs3811348 - NOB1 Q9ULX3 VAR_050288 p.Tyr366Phe LB/B rs1075935 - NOBOX O60393 VAR_036636 p.Arg355His LP/P rs201947677 Premature ovarian failure 5 (POF5) [MIM:611548] NOBOX O60393 VAR_036637 p.Arg360Gln LB/B rs199538689 - NOBOX O60393 VAR_036638 p.Asp452Asn LP/P rs112190116 Premature ovarian failure 5 (POF5) [MIM:611548] NOBOX O60393 VAR_036639 p.Gly482Ser LB/B rs2525702 - NOBOX O60393 VAR_036640 p.Phe517Leu LB/B rs2699503 - NOBOX O60393 VAR_061266 p.Arg117Trp US rs7800847 Premature ovarian failure 5 (POF5) [MIM:611548] NOBOX O60393 VAR_066013 p.Gly91Trp US rs77587352 Premature ovarian failure 5 (POF5) [MIM:611548] NOBOX O60393 VAR_066014 p.Ser342Thr LP/P rs193303103 Premature ovarian failure 5 (POF5) [MIM:611548] NOBOX O60393 VAR_066015 p.Val350Leu LP/P rs193303104 Premature ovarian failure 5 (POF5) [MIM:611548] NOBOX O60393 VAR_078291 p.Arg44Leu LB/B rs115206969 - NOBOX O60393 VAR_078292 p.Gly111Arg US rs571490209 Premature ovarian failure 5 (POF5) [MIM:611548] NOBOX O60393 VAR_078293 p.Gly152Arg US rs201806397 Premature ovarian failure 5 (POF5) [MIM:611548] NOBOX O60393 VAR_078294 p.Lys371Thr US rs189306575 Premature ovarian failure 5 (POF5) [MIM:611548] NOBOX O60393 VAR_078296 p.Pro619Leu LB/B rs146227301 - NOC2L Q9Y3T9 VAR_028145 p.Ala271Val LB/B rs3828049 - NOC2L Q9Y3T9 VAR_028146 p.Ile300Val LB/B rs3748597 - NOC2L Q9Y3T9 VAR_050289 p.Ser556Leu LB/B rs35471880 - NOC3L Q8WTT2 VAR_023549 p.Pro194Leu LB/B rs12572897 - NOC3L Q8WTT2 VAR_023550 p.Glu472Ala LB/B rs3758526 - NOC3L Q8WTT2 VAR_048621 p.Pro444Arg LB/B rs11187895 - NOC3L Q8WTT2 VAR_048622 p.Arg504Ile LB/B rs11187892 - NOC3L Q8WTT2 VAR_048623 p.Thr655Ser LB/B rs12259382 - NOC3L Q8WTT2 VAR_048624 p.Ala695Thr LB/B rs17517578 - NOCT Q9UK39 VAR_047096 p.His140Tyr LB/B rs2271777 - NOD1 Q9Y239 VAR_020371 p.Glu266Lys LB/B rs2075820 - NOD1 Q9Y239 VAR_053624 p.Asp372Asn LB/B rs5743342 - NOD1 Q9Y239 VAR_053625 p.Arg447His LB/B rs2975634 - NOD1 Q9Y239 VAR_053626 p.Arg605Trp LB/B rs5743345 - NOD1 Q9Y239 VAR_053627 p.Ala610Thr LB/B rs5743346 - NOD2 Q9HC29 VAR_012665 p.Ala140Thr US rs34684955 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012666 p.Trp157Arg US rs104895420 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012667 p.Thr189Met LB/B rs61755182 - NOD2 Q9HC29 VAR_012668 p.Arg235Cys US rs104895422 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012669 p.Leu248Arg US rs104895423 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012670 p.Pro268Ser LB/B rs2066842 - NOD2 Q9HC29 VAR_012671 p.Asn289Ser LB/B rs5743271 - NOD2 Q9HC29 VAR_012672 p.Asp291Asn US rs104895424 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012673 p.Thr294Ser US rs104895425 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012674 p.Ala301Val US rs104895426 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012675 p.Arg311Trp US rs104895427 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012676 p.Arg334Gln LP/P rs104895461 Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_012677 p.Arg334Trp LP/P rs104895462 Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_012678 p.Leu348Val US rs104895428 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012679 p.His352Arg US rs5743272 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012680 p.Arg373Cys US rs145293873 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012681 p.Asn414Ser US rs104895429 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012682 p.Ser431Leu US rs104895431 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012683 p.Ala432Val US rs2076754 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012684 p.Glu441Lys US rs104895432 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012685 p.Leu469Phe LP/P rs104895460 Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_012686 p.Ala612Thr US rs104895438 Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_012686 p.Ala612Thr US rs104895438 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012687 p.Ala612Val US rs104895439 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012688 p.Arg684Trp US rs5743276 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012689 p.Arg702Trp LP/P rs2066844 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012689 p.Arg702Trp LP/P rs2066844 Yao syndrome (YAOS) [MIM:617321] NOD2 Q9HC29 VAR_012690 p.Arg703Cys US rs5743277 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012691 p.Arg713Cys US rs104895440 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012692 p.Ala725Gly US rs5743278 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012693 p.Ala755Val US rs61747625 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012694 p.Ala758Val US rs104895442 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012695 p.Glu778Lys US rs104895443 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012696 p.Val793Met US rs104895444 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012697 p.Glu843Lys US rs104895445 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012698 p.Asn853Ser US rs104895446 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012699 p.Met863Val LP/P rs104895447 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012700 p.Ala885Thr US - Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012701 p.Gly908Arg LP/P rs2066845 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012701 p.Gly908Arg LP/P rs2066845 Yao syndrome (YAOS) [MIM:617321] NOD2 Q9HC29 VAR_012702 p.Ala918Asp LB/B rs104895452 - NOD2 Q9HC29 VAR_012703 p.Gly924Asp US rs104895453 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_012704 p.Val955Ile LB/B rs5743291 - NOD2 Q9HC29 VAR_023822 p.Asp382Glu LP/P rs104895476 Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_023823 p.Glu383Lys LP/P rs104895477 Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_023824 p.His496Leu LP/P rs104895472 Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_024402 p.Arg790Gln LB/B rs5743279 - NOD2 Q9HC29 VAR_036871 p.Leu81Val LB/B rs34936594 - NOD2 Q9HC29 VAR_036872 p.Arg471Cys LB/B rs1078327 - NOD2 Q9HC29 VAR_065228 p.Thr605Asn LP/P - Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_073180 p.Pro507Ser LP/P - Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_073228 p.Asp113Asn US rs104895468 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_073229 p.Asp357Ala US rs104895469 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_073230 p.Ile363Phe US rs104895470 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_073231 p.Glu383Gly US rs104895493 Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_073232 p.Arg391Cys LB/B rs104895481 - NOD2 Q9HC29 VAR_073233 p.Pro463Ala LB/B rs104895482 - NOD2 Q9HC29 VAR_073234 p.Gly464Trp LB/B rs104895492 - NOD2 Q9HC29 VAR_073235 p.Gly481Asp US rs104895494 Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_073236 p.Trp490Leu US rs104895480 Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_073237 p.Cys495Tyr US rs104895478 Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_073238 p.Met513Thr LP/P rs104895473 Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_073239 p.Leu550Val US rs104895471 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_073240 p.Arg587Cys US rs104895479 Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_073241 p.Thr605Pro LP/P rs104895474 Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_073242 p.Asn670Lys LP/P rs104895475 Blau syndrome (BLAUS) [MIM:186580] NOD2 Q9HC29 VAR_073243 p.Arg713His US rs104895483 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_073244 p.Arg760Cys US rs3813758 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_073245 p.Arg790Trp US rs62029861 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_073246 p.Arg791Trp LB/B rs104895484 - NOD2 Q9HC29 VAR_073247 p.Asn825Lys LB/B rs104895485 - NOD2 Q9HC29 VAR_073248 p.Ala849Val LB/B rs104895486 - NOD2 Q9HC29 VAR_073249 p.Asn852Ser US rs104895467 Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2 Q9HC29 VAR_088136 p.Glu498Asp LP/P - Blau syndrome (BLAUS) [MIM:186580] NODAL Q96S42 VAR_015111 p.Arg183Gln LP/P rs104894169 Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100] NODAL Q96S42 VAR_036202 p.Glu279Lys US rs755116310 A colorectal cancer sample NODAL Q96S42 VAR_038193 p.His165Arg LB/B rs1904589 - NODAL Q96S42 VAR_038194 p.Glu203Lys LP/P rs10999334 Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100] NODAL Q96S42 VAR_062281 p.Gly260Arg LP/P rs121909283 Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100] NODAL Q96S42 VAR_062282 p.Arg275Cys LP/P rs781366461 Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100] NODAL Q96S42 VAR_062283 p.Val284Phe LP/P rs1310479365 Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100] NOG Q13253 VAR_011361 p.Pro35Arg LP/P rs104894611 Symphalangism, proximal 1A (SYM1A) [MIM:185800] NOG Q13253 VAR_011361 p.Pro35Arg LP/P rs104894611 Tarsal-carpal coalition syndrome (TCC) [MIM:186570] NOG Q13253 VAR_011362 p.Gly189Cys LP/P rs104894609 Symphalangism, proximal 1A (SYM1A) [MIM:185800] NOG Q13253 VAR_011363 p.Trp217Gly LP/P rs104894603 Multiple synostoses syndrome 1 (SYNS1) [MIM:186500] NOG Q13253 VAR_011364 p.Ile220Asn LP/P - Symphalangism, proximal 1A (SYM1A) [MIM:185800] NOG Q13253 VAR_011365 p.Tyr222Cys LP/P rs104894602 Symphalangism, proximal 1A (SYM1A) [MIM:185800] NOG Q13253 VAR_011365 p.Tyr222Cys LP/P rs104894602 Tarsal-carpal coalition syndrome (TCC) [MIM:186570] NOG Q13253 VAR_011366 p.Tyr222Asp LP/P rs121908948 Symphalangism, proximal 1A (SYM1A) [MIM:185800] NOG Q13253 VAR_011367 p.Pro223Leu LP/P rs104894608 Symphalangism, proximal 1A (SYM1A) [MIM:185800] NOG Q13253 VAR_018324 p.Pro35Ser LP/P rs28937580 Brachydactyly B2 (BDB2) [MIM:611377] NOG Q13253 VAR_018324 p.Pro35Ser LP/P rs28937580 Symphalangism, proximal 1A (SYM1A) [MIM:185800] NOG Q13253 VAR_018325 p.Cys184Tyr LP/P rs104894612 Symphalangism, proximal 1A (SYM1A) [MIM:185800] NOG Q13253 VAR_018326 p.Arg204Leu LP/P rs104894610 Tarsal-carpal coalition syndrome (TCC) [MIM:186570] NOG Q13253 VAR_036997 p.Pro35Ala LP/P rs28937580 Brachydactyly B2 (BDB2) [MIM:611377] NOG Q13253 VAR_036998 p.Ala36Pro LP/P - Brachydactyly B2 (BDB2) [MIM:611377] NOG Q13253 VAR_036999 p.Glu48Lys LP/P - Brachydactyly B2 (BDB2) [MIM:611377] NOG Q13253 VAR_037000 p.Arg167Gly LP/P rs121908949 Brachydactyly B2 (BDB2) [MIM:611377] NOG Q13253 VAR_037001 p.Pro187Ser LP/P - Brachydactyly B2 (BDB2) [MIM:611377] NOG Q13253 VAR_037605 p.Trp205Cys LP/P rs104894615 Symphalangism, proximal 1A (SYM1A) [MIM:185800] NOG Q13253 VAR_064541 p.Cys232Trp LP/P rs387906844 Multiple synostoses syndrome 1 (SYNS1) [MIM:186500] NOG Q13253 VAR_084488 p.Pro83Leu US - - NOG Q13253 VAR_084489 p.Leu104Met US - - NOL10 Q9BSC4 VAR_060041 p.Asp635Asn LB/B rs2287059 - NOL11 Q9H8H0 VAR_051237 p.Val115Ala LB/B rs2291284 - NOL3 O60936 VAR_069731 p.Glu21Gln LP/P rs397514600 Myoclonus, familial, 1 (MYOCL1) [MIM:614937] NOL3 O60936 VAR_072644 p.Ala80Thr LP/P rs780601409 Myoclonus, familial, 1 (MYOCL1) [MIM:614937] NOL6 Q9H6R4 VAR_053541 p.Pro52Ser LB/B rs10971523 - NOL6 Q9H6R4 VAR_053542 p.Arg723Trp LB/B rs35135082 - NOL8 Q76FK4 VAR_052211 p.Val748Leu LB/B rs2236344 - NOL8 Q76FK4 VAR_052212 p.Asp841Glu LB/B rs15717 - NOL8 Q76FK4 VAR_052213 p.Glu988Asp LB/B rs34224798 - NOL8 Q76FK4 VAR_052214 p.Gly1021Ser LB/B rs921122 - NOL8 Q76FK4 VAR_061830 p.Gly470Glu LB/B rs58545014 - NOL9 Q5SY16 VAR_054777 p.Arg10Trp LB/B rs4908923 - NOL9 Q5SY16 VAR_054778 p.Trp50Arg LB/B rs6693400 - NOL9 Q5SY16 VAR_054779 p.Ser58Ala LB/B rs6693391 - NOL9 Q5SY16 VAR_056955 p.Ile420Val LB/B rs17029613 - NOLC1 Q14978 VAR_031677 p.Gly412Val LB/B rs11191224 - NOLC1 Q14978 VAR_031678 p.Ser456Pro LB/B rs1049455 - NOM1 Q5C9Z4 VAR_032187 p.His122Pro LB/B rs6952214 - NOM1 Q5C9Z4 VAR_032188 p.Arg779His LB/B rs2302445 - NOM1 Q5C9Z4 VAR_032189 p.Val804Leu LB/B rs2302443 - NOM1 Q5C9Z4 VAR_032190 p.Val812Met LB/B rs12919 - NOM1 Q5C9Z4 VAR_053051 p.Met723Val LB/B rs12919 - NOM1 Q5C9Z4 VAR_061999 p.Arg24Gly LB/B rs6969990 - NOMO1 Q15155 VAR_011496 p.Glu1081Lys LB/B rs200317822 - NOMO1 Q15155 VAR_013312 p.Ile404Val LB/B rs2561962 - NOMO1 Q15155 VAR_013313 p.Lys458Asn LB/B rs1345150579 - NOMO1 Q15155 VAR_013314 p.Asn490Asp LB/B rs1062412 - NOMO1 Q15155 VAR_013315 p.Ile1141Phe LB/B rs376397163 - NOMO1 Q15155 VAR_013316 p.Arg1195Gly LB/B rs9330 - NOMO1 Q15155 VAR_022551 p.Met493Val LB/B rs141860762 - NOMO1 Q15155 VAR_056956 p.Met580Val LB/B rs17356851 - NOMO1 Q15155 VAR_060370 p.Val583Ala LB/B rs17855981 - NOMO2 Q5JPE7 VAR_016104 p.Val580Met LB/B rs15984 - NOMO2 Q5JPE7 VAR_034139 p.Val493Met LB/B rs1062413 - NOP10 Q9NPE3 VAR_043725 p.Arg34Trp LP/P rs121908092 Dyskeratosis congenita, autosomal recessive, 1 (DKCB1) [MIM:224230] NOP10 Q9NPE3 VAR_088624 p.Tyr6Cys US - Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 9 (PFBMFT9) [MIM:620400] NOP10 Q9NPE3 VAR_088625 p.Thr16Met LP/P - Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 (CHINE2) [MIM:620425] NOP14 P78316 VAR_053540 p.Leu380Ser LB/B rs2515960 - NOP14 P78316 VAR_060075 p.Gln716Arg LB/B rs1054090 - NOP2 P46087 VAR_030938 p.Leu73Ser LB/B rs1128164 - NOP53 Q9NZM5 VAR_011486 p.Gln389Arg LB/B rs1804994 - NOP53 Q9NZM5 VAR_024456 p.Ser16Arg LB/B rs1042401 - NOP56 O00567 VAR_014471 p.Val576Ala LB/B rs5856 - NOP56 O00567 VAR_028793 p.Ile121Val LB/B rs2273137 - NOP56 O00567 VAR_028794 p.Met475Thr LB/B rs6753 - NOP58 Q9Y2X3 VAR_059461 p.Asn387Thr LB/B rs34748654 - NOP58 Q9Y2X3 VAR_059462 p.Ala389Pro LB/B rs34458926 - NOP58 Q9Y2X3 VAR_059463 p.Asp400Ala LB/B rs35900977 - NOP58 Q9Y2X3 VAR_059464 p.Thr508Pro LB/B rs34523815 - NOP9 Q86U38 VAR_024600 p.Ser308Asn LB/B rs4280164 - NOP9 Q86U38 VAR_036456 p.Ser497Tyr US - A breast cancer sample NOP9 Q86U38 VAR_036457 p.Arg626Gln US rs374412139 A breast cancer sample NOP9 Q86U38 VAR_051612 p.Pro51Ser LB/B rs11848295 - NOPCHAP1 Q8N5I9 VAR_056833 p.Gly5Ser LB/B rs12580271 - NOPCHAP1 Q8N5I9 VAR_060438 p.Lys8Gln LB/B rs1129593 - NOS1 P29475 VAR_018948 p.Pro228Ser LB/B rs9658279 - NOS1 P29475 VAR_018949 p.Asp394Ala LB/B rs9658356 - NOS1 P29475 VAR_018950 p.Asn725Asp LB/B rs9658403 - NOS1 P29475 VAR_018951 p.Gly864Asp LB/B rs9658445 - NOS1 P29475 VAR_018952 p.Gln1064Arg LB/B rs9658482 - NOS1AP O75052 VAR_085238 p.Cys143Tyr LP/P rs1656826074 Nephrotic syndrome 22 (NPHS22) [MIM:619155] NOS2 P35228 VAR_022127 p.Ser608Leu LB/B rs2297518 - NOS2 P35228 VAR_024548 p.Arg221Trp LB/B rs3730017 - NOS2 P35228 VAR_025020 p.Thr747Ala LB/B rs28944173 - NOS2 P35228 VAR_025021 p.Arg1009Cys LB/B rs28944201 - NOS2 P35228 VAR_036302 p.Ala679Ser US rs769900089 A breast cancer sample NOS3 P29474 VAR_008037 p.Asp298Glu LB/B rs1799983 - NOS3 P29474 VAR_031218 p.Arg112Gln LB/B rs3918166 - NOS3 P29474 VAR_031219 p.Val827Met LB/B rs3918232 - NOS3 P29474 VAR_031220 p.Arg885Met LB/B rs3918201 - NOS3 P29474 VAR_031221 p.Gln982Leu LB/B rs3918234 - NOS3 P29474 VAR_036303 p.Arg474Cys LB/B rs145805216 - NOS3 P29474 VAR_036304 p.Arg602Gln LB/B rs145168353 - NOS3 P29474 VAR_061377 p.Arg665His LB/B rs7792133 - NOSIP Q9Y314 VAR_031169 p.Thr168Met LB/B rs17850728 - NOSTRIN Q8IVI9 VAR_032569 p.Gly473Glu LB/B rs479661 - NOTCH1 P46531 VAR_034898 p.Gln300Arg LB/B rs11574885 - NOTCH1 P46531 VAR_046618 p.Val1671Ile LB/B rs2229968 - NOTCH1 P46531 VAR_048990 p.Arg879Trp LB/B rs587778563 - NOTCH1 P46531 VAR_071960 p.Cys429Arg LP/P rs587777736 Adams-Oliver syndrome 5 (AOS5) [MIM:616028] NOTCH1 P46531 VAR_071961 p.Cys1496Tyr LP/P rs587781259 Adams-Oliver syndrome 5 (AOS5) [MIM:616028] NOTCH1 P46531 VAR_071962 p.Asp1989Asn LP/P rs587777734 Adams-Oliver syndrome 5 (AOS5) [MIM:616028] NOTCH2 Q04721 VAR_029361 p.Cys444Tyr LP/P rs111033632 Alagille syndrome 2 (ALGS2) [MIM:610205] NOTCH2 Q04721 VAR_031463 p.Val1667Phe LB/B rs17024517 - NOTCH2NLA Q7Z3S9 VAR_043601 p.Ser67Pro LB/B rs10910779 - NOTCH2NLA Q7Z3S9 VAR_043602 p.Thr158Ile LB/B rs8002 - NOTCH2NLA Q7Z3S9 VAR_043603 p.Thr196Ser LB/B rs4649852 - NOTCH2NLA Q7Z3S9 VAR_043604 p.Glu226Gln LB/B rs1053710 - NOTCH3 Q9UM47 VAR_012871 p.Cys49Tyr LP/P rs193921045 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012872 p.Trp71Cys LP/P rs28937321 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012873 p.Arg90Cys LP/P rs1555729604 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012874 p.Arg110Cys LP/P rs775836288 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012876 p.Arg133Cys LP/P rs137852642 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012877 p.Arg141Cys LP/P rs1174625611 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012878 p.Cys146Arg LP/P rs1555729510 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012879 p.Arg153Cys LP/P rs797045014 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012880 p.Arg169Cys LP/P rs28933696 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012881 p.His170Arg LB/B rs147373451 - NOTCH3 Q9UM47 VAR_012882 p.Gly171Cys LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012883 p.Arg182Cys LP/P rs28933697 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012884 p.Cys185Arg LP/P rs1568361844 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012885 p.Cys212Ser LP/P rs1555729455 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012886 p.Cys222Gly LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012887 p.Cys224Tyr LP/P rs1555729451 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012888 p.Tyr258Cys LP/P rs947976672 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012889 p.Pro496Leu LB/B rs11670799 - NOTCH3 Q9UM47 VAR_012890 p.Cys542Tyr LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012891 p.Arg558Cys LP/P rs75068032 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012892 p.Arg578Cys LP/P rs769773673 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012893 p.Arg728Cys LP/P rs1057519101 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012894 p.Arg985Cys LP/P rs1188569102 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012895 p.Arg1006Cys LP/P rs1555727942 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012896 p.Arg1031Cys LP/P rs1285584068 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012897 p.His1133Gln LB/B rs112197217 - NOTCH3 Q9UM47 VAR_012898 p.Val1183Met LB/B rs10408676 - NOTCH3 Q9UM47 VAR_012899 p.Arg1231Cys LP/P rs201680145 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012900 p.Cys1261Arg LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_012901 p.Ala2223Val LB/B rs1044009 - NOTCH3 Q9UM47 VAR_044230 p.Cys43Gly LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044231 p.Cys49Phe LP/P rs193921045 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044232 p.Arg54Cys LP/P rs1555730189 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044233 p.Ser60Cys LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044234 p.Cys65Ser LP/P rs1555730176 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044235 p.Cys67Tyr LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044236 p.Cys76Arg LP/P rs1555729610 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044237 p.Cys76Trp LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044240 p.Cys87Arg LP/P rs1568362232 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044241 p.Cys87Tyr LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044242 p.Cys93Phe LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044243 p.Cys93Tyr LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044244 p.Cys106Trp LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044245 p.Cys108Trp LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044246 p.Cys108Tyr LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044247 p.Cys117Phe LP/P rs773539041 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044248 p.Ser118Cys LP/P rs1469620436 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044249 p.Cys123Phe LP/P rs2046935167 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044250 p.Cys123Tyr LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044251 p.Cys128Tyr LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044252 p.Cys134Trp LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044253 p.Phe142Cys LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044254 p.Cys144Phe LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044255 p.Cys144Ser LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044256 p.Cys144Tyr LP/P rs1568361985 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044257 p.Ser145Cys LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044258 p.Gly149Cys LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044259 p.Tyr150Cys LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044261 p.Cys155Ser LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044262 p.Cys162Ser LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044263 p.Cys174Phe LP/P rs1555729486 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044264 p.Cys174Arg LP/P rs1599394806 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044265 p.Cys174Tyr LP/P rs1555729486 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044266 p.Ser180Cys LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044267 p.Cys183Phe LP/P rs1568361851 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044268 p.Cys183Arg LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044269 p.Cys183Ser LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044270 p.Cys185Gly LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044271 p.Tyr189Cys LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044272 p.Cys194Phe LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044273 p.Cys194Arg LP/P rs1568361818 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044274 p.Cys194Ser LP/P rs1568361818 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044275 p.Cys194Tyr LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044276 p.Cys201Tyr LP/P rs1555729468 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044277 p.Cys206Tyr LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044278 p.Arg207Cys LP/P rs775267348 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044279 p.Arg213Lys LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044280 p.Cys222Tyr LP/P rs1555729452 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044281 p.Cys233Ser LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044282 p.Cys233Tyr LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044284 p.Cys240Ser LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044285 p.Cys245Arg LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044286 p.Cys251Arg LP/P rs1568361608 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044287 p.Cys260Tyr LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044288 p.Ala319Cys LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044289 p.Arg332Cys LP/P rs137852641 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044290 p.Ser335Cys LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044291 p.Tyr337Cys LP/P rs2046925676 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044292 p.Cys379Ser LP/P rs1599391986 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044293 p.Cys395Arg LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044294 p.Gly420Cys LP/P rs1323608032 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044295 p.Arg421Cys LP/P rs1555729068 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044296 p.Cys428Ser LP/P rs267606915 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044297 p.Cys428Tyr LP/P rs1568360455 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044298 p.Cys440Gly LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044299 p.Cys440Arg LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044300 p.Cys446Ser LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044301 p.Arg449Cys LP/P rs762734007 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044302 p.Cys455Arg LP/P rs28933698 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044303 p.Cys484Phe LP/P rs1313319587 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044304 p.Cys484Tyr LP/P rs1313319587 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044305 p.Cys495Tyr LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044306 p.Cys511Arg LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044307 p.Arg544Cys LP/P rs201118034 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044308 p.Cys549Tyr LP/P rs1555728814 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044309 p.Arg607Cys LP/P rs777751303 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044310 p.Cys775Ser LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044311 p.Gly953Cys LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044312 p.Phe984Cys LP/P rs995523352 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044313 p.Cys1015Arg LP/P rs1599382214 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044314 p.Ala1020Pro LB/B rs35769976 - NOTCH3 Q9UM47 VAR_044315 p.Tyr1021Cys LP/P rs1167405466 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044316 p.Asp1063Cys LP/P - Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044317 p.Cys1261Tyr LP/P rs1209610920 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3 Q9UM47 VAR_044318 p.Leu1515Pro US - - NOTCH3 Q9UM47 VAR_069927 p.Leu1519Pro LP/P rs367543285 Myofibromatosis, infantile 2 (IMF2) [MIM:615293] NOTCH3 Q9UM47 VAR_072080 p.Tyr710Cys LP/P rs1328784046 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH4 Q99466 VAR_012866 p.Lys117Gln LB/B rs915894 - NOTCH4 Q99466 VAR_012867 p.Asp272Gly LB/B rs520692 - NOTCH4 Q99466 VAR_012868 p.Glu317Gln LB/B - - NOTCH4 Q99466 VAR_012869 p.Thr320Ala LB/B rs422951 - NOTCH4 Q99466 VAR_012870 p.Lys851Arg LB/B rs2022060 - NOTCH4 Q99466 VAR_033828 p.Pro204Leu LB/B rs2071282 - NOTCH4 Q99466 VAR_033829 p.Pro206Leu LB/B rs2071282 - NOTCH4 Q99466 VAR_033830 p.Ser244Leu LB/B rs8192585 - NOTCH4 Q99466 VAR_033831 p.Gly534Ser LB/B rs8192591 - NOTCH4 Q99466 VAR_048991 p.Ser809Ile LB/B rs3132961 - NOTCH4 Q99466 VAR_048992 p.Gly942Arg LB/B rs17604492 - NOTCH4 Q99466 VAR_048993 p.Arg1346Pro LB/B rs8192573 - NOTCH4 Q99466 VAR_059271 p.Gln284His LB/B rs520803 - NOTO A8MTQ0 VAR_059353 p.Arg5Thr LB/B rs1864492 - NOTO A8MTQ0 VAR_059354 p.Asn164Lys LB/B rs13418681 - NOX1 Q9Y5S8 VAR_049101 p.Arg315His LB/B rs2071756 - NOX1 Q9Y5S8 VAR_049102 p.Arg378Lys LB/B rs35404864 - NOX1 Q9Y5S8 VAR_061176 p.Asp360Asn US rs34688635 - NOX1 Q9Y5S8 VAR_075548 p.Pro330Ser US - - NOX3 Q9HBY0 VAR_049103 p.Thr171Lys LB/B rs3749930 - NOX4 Q9NPH5 VAR_047114 p.Met315Ile LB/B rs317139 - NOX5 Q96PH1 VAR_055820 p.Arg576His LB/B rs2277552 - NOX5 Q96PH1 VAR_055821 p.Arg759Gly LB/B rs7168025 - NOXA1 Q86UR1 VAR_037986 p.Pro286Leu LB/B rs34155071 - NPAP1 Q9NZP6 VAR_026872 p.Val212Ala LB/B rs3784246 - NPAP1 Q9NZP6 VAR_026873 p.Gly253Arg LB/B rs1563102 - NPAP1 Q9NZP6 VAR_026874 p.Asn282Ser LB/B rs7165533 - NPAP1 Q9NZP6 VAR_026875 p.Gln406Glu LB/B rs3742950 - NPAP1 Q9NZP6 VAR_035682 p.Arg37Gln US rs772577429 A colorectal cancer sample NPAP1 Q9NZP6 VAR_035683 p.Val114Ile US rs778802437 A colorectal cancer sample NPAP1 Q9NZP6 VAR_050878 p.Pro34Gln LB/B rs35022251 - NPAP1 Q9NZP6 VAR_050879 p.Trp152Arg LB/B rs35870568 - NPAP1 Q9NZP6 VAR_050880 p.Pro343Ala LB/B rs36025315 - NPAP1 Q9NZP6 VAR_050881 p.Ala757Thr LB/B rs36032407 - NPAP1 Q9NZP6 VAR_050882 p.Thr929Pro LB/B rs34413216 - NPAS2 Q99743 VAR_029078 p.Thr394Ala LB/B rs2305160 - NPAS2 Q99743 VAR_029079 p.Ser471Leu LB/B rs11541353 - NPAS4 Q8IUM7 VAR_076845 p.Phe147Ser LB/B rs79072452 - NPAS4 Q8IUM7 VAR_076846 p.Gly208Cys LB/B rs905768 - NPAS4 Q8IUM7 VAR_076847 p.Glu257Lys LB/B rs375915619 - NPAS4 Q8IUM7 VAR_076848 p.Trp293Arg LB/B rs200310338 - NPAS4 Q8IUM7 VAR_076849 p.Cys296Arg US - - NPAS4 Q8IUM7 VAR_076850 p.Met317Leu LB/B rs76159120 - NPAS4 Q8IUM7 VAR_076851 p.Pro344Ala LB/B rs140299985 - NPAS4 Q8IUM7 VAR_076852 p.Thr359Ile LB/B rs145746289 - NPAS4 Q8IUM7 VAR_076853 p.Pro472Ser LB/B rs150700317 - NPAS4 Q8IUM7 VAR_076854 p.Gln500Lys LB/B rs71457718 - NPAS4 Q8IUM7 VAR_076855 p.Thr587Met LB/B rs142965018 - NPAS4 Q8IUM7 VAR_076856 p.Asn702Asp LB/B rs147463475 - NPAS4 Q8IUM7 VAR_076857 p.Asp750Tyr LB/B rs139929410 - NPAS4 Q8IUM7 VAR_076858 p.Thr777Ile LB/B rs111848728 - NPAT Q14207 VAR_038696 p.Ile295Leu LB/B rs1131748 - NPAT Q14207 VAR_038697 p.Leu399Met LB/B rs1051521 - NPAT Q14207 VAR_038698 p.Val447Met LB/B rs35504388 - NPAT Q14207 VAR_038699 p.Ile483Leu LB/B rs968207 - NPAT Q14207 VAR_038700 p.Leu540Phe LB/B rs4144901 - NPAT Q14207 VAR_038701 p.Val575Ile LB/B rs2070661 - NPAT Q14207 VAR_038702 p.Val608Ala LB/B rs35095430 - NPAT Q14207 VAR_038703 p.Val621Ile LB/B rs1051522 - NPAT Q14207 VAR_038704 p.Gln967Glu LB/B rs1131750 - NPAT Q14207 VAR_038705 p.Leu973Val LB/B rs1131751 - NPAT Q14207 VAR_038706 p.Val987Ala LB/B rs1051524 - NPAT Q14207 VAR_038707 p.Asn999Lys LB/B rs34052882 - NPAT Q14207 VAR_038708 p.Gln1191Arg LB/B rs1051525 - NPBWR1 P48145 VAR_035765 p.Pro19Gln US rs772418985 A breast cancer sample NPBWR1 P48145 VAR_047788 p.Tyr135Phe LB/B rs33977775 - NPBWR1 P48145 VAR_047789 p.Arg319Cys LB/B rs36068168 - NPBWR2 P48146 VAR_003579 p.Gln206Arg LB/B rs4809401 - NPBWR2 P48146 VAR_035766 p.Gly92Arg US rs768724424 A colorectal cancer sample NPC1 O15118 VAR_008815 p.Cys177Gly LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008816 p.His215Arg LB/B rs1805081 - NPC1 O15118 VAR_008817 p.Pro237Ser LB/B rs80358251 - NPC1 O15118 VAR_008818 p.Gly333Asp LB/B - - NPC1 O15118 VAR_008819 p.Leu472Pro LB/B - - NPC1 O15118 VAR_008820 p.Ser473Pro LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008821 p.His510Pro LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008822 p.Arg518Gln LP/P rs483352886 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008823 p.Met642Ile LB/B rs1788799 - NPC1 O15118 VAR_008824 p.Val757Ala LB/B - - NPC1 O15118 VAR_008825 p.Ile858Val LB/B rs1805082 - NPC1 O15118 VAR_008826 p.Val889Met LP/P rs120074130 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008827 p.Gln928Pro LP/P rs28940897 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008828 p.Arg934Gln LP/P rs786204714 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008829 p.Ser940Leu LP/P rs143124972 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008830 p.Asp948Asn LP/P rs1261939149 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008831 p.Ser954Leu LP/P rs543206298 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008832 p.Cys956Tyr LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008833 p.Gly992Trp LP/P rs80358254 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008834 p.Pro1007Ala LP/P rs80358257 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008835 p.Thr1036Met LP/P rs28942104 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008836 p.Ile1061Thr LP/P rs80358259 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008837 p.Tyr1088Cys LP/P rs28942106 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008838 p.Asn1156Ser LP/P rs28942105 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008839 p.Phe1167Leu LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008840 p.Arg1186His LP/P rs200444084 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008841 p.Leu1213Phe LP/P rs120074131 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008842 p.Leu1213Val LP/P rs766178353 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008843 p.Ile1220Thr LB/B - - NPC1 O15118 VAR_008844 p.Arg1266Gln LB/B rs1805084 - NPC1 O15118 VAR_015561 p.Cys177Tyr LP/P rs80358252 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_015562 p.Val378Ala LP/P rs120074134 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_015563 p.Val950Met LP/P rs120074135 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_015564 p.Arg958Gln LP/P rs120074132 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_015565 p.Arg978Cys LP/P rs28942108 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_015566 p.Gly992Arg LP/P rs80358254 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_015567 p.Ala1035Val LP/P rs28942107 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043172 p.Cys63Arg LP/P rs747049347 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043173 p.Cys74Tyr LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043174 p.Gln92Arg LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043175 p.Cys113Arg LP/P rs120074136 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043176 p.Thr137Met LP/P rs372947142 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043177 p.Ser151Gly LB/B rs17855819 - NPC1 O15118 VAR_043178 p.Pro166Ser LP/P rs866966704 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043179 p.Asn222Ser LP/P rs55680026 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043180 p.Val231Gly LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043181 p.Asp242His LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043182 p.Asp242Asn LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043183 p.Cys247Tyr LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043184 p.Gly248Val LP/P rs1230538609 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043185 p.Met272Arg LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043187 p.Arg372Trp LP/P rs1346436537 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043188 p.Leu380Phe LP/P rs1435915496 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043189 p.Trp381Cys LB/B - - NPC1 O15118 VAR_043190 p.Ala388Pro LP/P rs1555637157 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043191 p.Arg389Cys LP/P rs1053321823 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043192 p.Pro401Thr LP/P rs766301620 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043193 p.Arg404Pro LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043194 p.Arg404Gln LP/P rs139751448 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043195 p.Arg404Trp LP/P rs1298238512 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043196 p.Pro433Leu LP/P rs1064793791 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043197 p.Pro434Leu LP/P rs774333145 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043198 p.Pro434Ser LB/B rs61731962 - NPC1 O15118 VAR_043199 p.Glu451Lys LP/P rs781065429 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043200 p.Pro474Leu LP/P rs372445155 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043201 p.Cys479Tyr LP/P rs1555636659 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043202 p.Tyr509Ser LP/P rs1190383931 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043203 p.Thr511Met LB/B rs13381670 - NPC1 O15118 VAR_043204 p.His512Arg LP/P rs1567963883 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043205 p.Arg518Trp LP/P rs377515417 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043206 p.Ala521Ser LP/P rs138184115 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043207 p.Phe537Leu LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043208 p.Pro543Leu LP/P rs369368181 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043209 p.Thr574Lys LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043210 p.Lys576Arg LP/P rs761660695 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043211 p.Ala605Val LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043212 p.Glu612Asp LP/P rs1555634739 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043213 p.Arg615Cys LP/P rs745777805 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043214 p.Arg615Leu LP/P rs773351341 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043215 p.Met631Arg LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043216 p.Gly640Arg LP/P rs2058768195 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043217 p.Ser652Trp LP/P rs765652543 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043218 p.Gly660Ser LP/P rs1555634490 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043219 p.Val664Met LP/P rs376213990 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043220 p.Ser666Asn LP/P rs750480579 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043221 p.Cys670Trp LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043222 p.Gly673Val LP/P rs1555634452 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043223 p.Leu684Phe LP/P rs1057518942 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043224 p.Pro691Leu LP/P rs1555634422 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043225 p.Leu695Val LP/P rs370323921 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043226 p.Asp700Asn LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043227 p.Phe703Ser LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043228 p.Leu724Pro LP/P rs1393388896 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043229 p.Val727Phe LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043230 p.Ser734Ile LP/P rs757475924 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043231 p.Glu742Lys LP/P rs1555634202 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043232 p.Ala745Glu LP/P rs752386083 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043233 p.Met754Lys LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043234 p.Phe763Leu LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043235 p.Ala767Val LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043236 p.Gln775Pro LP/P rs80358253 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043237 p.Arg789Cys LP/P rs1555633697 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043238 p.Arg789Gly LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043239 p.Tyr825Cys LP/P rs550562774 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043240 p.Ser849Ile LP/P rs1057519242 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043241 p.Gln862Leu LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043242 p.Ser865Leu LP/P rs1160114136 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043243 p.Tyr871Cys LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043244 p.Val873Ala LB/B - - NPC1 O15118 VAR_043245 p.Asp874Val LP/P rs372030650 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043246 p.Pro888Ser LP/P rs1191346899 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043247 p.Tyr890Cys LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043248 p.Tyr899Asp LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043249 p.Gly910Ser LP/P rs768999208 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043250 p.Asp917Tyr LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043251 p.Ala926Thr LP/P rs564631426 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043252 p.Ala927Val LP/P rs753768576 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043253 p.Leu929Pro LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043254 p.Trp942Cys LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043255 p.Ile943Met LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043256 p.Asp944Asn LP/P rs748837410 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043257 p.Asp945Asn LP/P rs1428599096 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043258 p.Asp948His LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043259 p.Asp948Tyr LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043260 p.Arg958Leu LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043261 p.Val959Glu LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043263 p.Asn961Ser LP/P rs34084984 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043264 p.Asn968Ser LP/P rs773767253 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043265 p.Val971Gly LB/B - - NPC1 O15118 VAR_043266 p.Cys976Arg LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043267 p.Gly986Ser LP/P rs1364834942 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043268 p.Gly992Ala LP/P rs757534240 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043269 p.Met996Arg LP/P rs1555632958 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043270 p.Ser1004Leu LP/P rs150334966 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043271 p.Gly1012Asp LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043272 p.Gly1015Val LP/P rs761773567 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043273 p.His1016Arg LP/P rs140211089 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043274 p.Val1023Gly LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043275 p.Gly1034Arg LP/P rs2058637844 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043276 p.Thr1036Lys LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043277 p.Ala1049Val LB/B - - NPC1 O15118 VAR_043278 p.Ala1054Thr LP/P rs80358258 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043279 p.Arg1059Gln LP/P rs771000314 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043280 p.Ala1062Val LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043281 p.Thr1066Asn LP/P rs772622214 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043282 p.Phe1087Leu LP/P rs746715353 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043283 p.Glu1089Lys LP/P rs374526072 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043284 p.Ile1094Thr LP/P rs1338658857 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043285 p.Asp1097Asn LP/P rs758829443 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043286 p.Asn1137Ile LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043287 p.Gly1140Val LP/P rs2058616184 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043288 p.Met1142Thr LP/P rs778878523 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043289 p.Asn1150Lys LP/P rs34715591 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043290 p.Asn1156Ile LP/P rs28942105 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043291 p.Val1165Met LP/P rs748862167 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043292 p.Cys1168Tyr LP/P rs1555631998 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043293 p.Ala1174Val LP/P rs780175800 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043294 p.Glu1189Gly LP/P rs369098773 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043295 p.Thr1205Lys LP/P rs758902805 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043296 p.Thr1205Arg LP/P rs758902805 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043297 p.Val1212Leu LP/P rs753419933 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043298 p.Ala1216Val LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043299 p.Phe1224Leu LP/P - Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043300 p.Gly1236Glu LP/P rs761653115 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043301 p.Gly1240Arg LP/P rs745892286 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043302 p.Ser1249Gly LP/P rs1415921261 Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1L1 Q9UHC9 VAR_023369 p.Val55Leu LB/B rs119457968 - NPC1L1 Q9UHC9 VAR_023370 p.Ile1233Asn LB/B rs52815063 - NPC1L1 Q9UHC9 VAR_056659 p.Met510Ile LB/B rs1468384 - NPC1L1 Q9UHC9 VAR_056660 p.Glu1308Lys LB/B rs217435 - NPC2 P61916 VAR_011899 p.Pro86Leu LB/B rs4688 - NPC2 P61916 VAR_015848 p.Val39Met LP/P rs80358261 Niemann-Pick disease C2 (NPC2) [MIM:607625] NPC2 P61916 VAR_015849 p.Ser67Pro LP/P rs11694 Niemann-Pick disease C2 (NPC2) [MIM:607625] NPC2 P61916 VAR_043303 p.Val30Met LP/P rs151220873 Niemann-Pick disease C2 (NPC2) [MIM:607625] NPC2 P61916 VAR_043304 p.Cys47Phe LP/P rs1555345993 Niemann-Pick disease C2 (NPC2) [MIM:607625] NPC2 P61916 VAR_043305 p.Cys93Phe LP/P rs143960270 Niemann-Pick disease C2 (NPC2) [MIM:607625] NPC2 P61916 VAR_043306 p.Cys99Arg LP/P rs80358264 Niemann-Pick disease C2 (NPC2) [MIM:607625] NPC2 P61916 VAR_043307 p.Pro120Ser LP/P rs104894458 Niemann-Pick disease C2 (NPC2) [MIM:607625] NPEPL1 Q8NDH3 VAR_059756 p.Lys303Arg LB/B rs8116292 - NPEPL1 Q8NDH3 VAR_059757 p.Leu513Val LB/B rs6026468 - NPFF O15130 VAR_049183 p.Trp88Arg LB/B rs35822762 - NPFFR1 Q9GZQ6 VAR_059327 p.Ile145Leu LB/B rs3812694 - NPHP1 O15259 VAR_012160 p.Gly342Arg LP/P rs121907899 Nephronophthisis 1 (NPHP1) [MIM:256100] NPHP1 O15259 VAR_077633 p.Arg5Leu LB/B rs190983114 - NPHP3 Q7Z494 VAR_022815 p.Ser360Thr LP/P rs119456960 Nephronophthisis 3 (NPHP3) [MIM:604387] NPHP3 Q7Z494 VAR_022816 p.Asn386Ser LP/P rs142021049 Nephronophthisis 3 (NPHP3) [MIM:604387] NPHP3 Q7Z494 VAR_022817 p.Arg397His LP/P rs755094682 Nephronophthisis 3 (NPHP3) [MIM:604387] NPHP3 Q7Z494 VAR_022818 p.Leu1141Pro LP/P rs1057521090 Nephronophthisis 3 (NPHP3) [MIM:604387] NPHP3 Q7Z494 VAR_022819 p.Ala1221Val LP/P rs202048210 Nephronophthisis 3 (NPHP3) [MIM:604387] NPHP3 Q7Z494 VAR_022820 p.Ser1252Arg LP/P rs143451766 Nephronophthisis 3 (NPHP3) [MIM:604387] NPHP3 Q7Z494 VAR_022821 p.Ser1314Thr LP/P rs75316802 Nephronophthisis 3 (NPHP3) [MIM:604387] NPHP3 Q7Z494 VAR_044121 p.Arg973Gln LP/P rs119456963 Renal-hepatic-pancreatic dysplasia 1 (RHPD1) [MIM:208540] NPHP3 Q7Z494 VAR_044122 p.Arg1305Cys LB/B rs35485382 - NPHP4 O75161 VAR_015186 p.Phe991Ser LP/P rs28940891 Nephronophthisis 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_015214 p.Gly754Arg LP/P rs373962831 Nephronophthisis 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_015215 p.Arg848Trp LB/B rs17472401 - NPHP4 O75161 VAR_022526 p.Asp3Tyr LP/P rs145078518 Senior-Loken syndrome 4 (SLSN4) [MIM:606996] NPHP4 O75161 VAR_022527 p.Thr29Met LB/B rs12142270 - NPHP4 O75161 VAR_022528 p.Phe91Leu LP/P rs201065230 Senior-Loken syndrome 4 (SLSN4) [MIM:606996] NPHP4 O75161 VAR_022529 p.Arg342Cys LP/P rs190940697 Nephronophthisis 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022530 p.Arg469Trp LP/P rs758253306 Nephronophthisis 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022531 p.Ala544Gly LB/B rs12093500 - NPHP4 O75161 VAR_022532 p.Glu618Lys LB/B rs571655 - NPHP4 O75161 VAR_022533 p.Thr627Met LP/P rs199891059 Senior-Loken syndrome 4 (SLSN4) [MIM:606996] NPHP4 O75161 VAR_022534 p.Ala654Gly LP/P - Nephronophthisis 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022535 p.Arg735Trp LP/P rs191913664 Nephronophthisis 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022536 p.Arg740His LB/B rs34248917 - NPHP4 O75161 VAR_022537 p.Val765Ile LB/B rs149244006 - NPHP4 O75161 VAR_022538 p.Gln766Arg LP/P - Nephronophthisis 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022539 p.Pro776Arg LP/P rs201527181 Nephronophthisis 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022540 p.His782Gln LP/P rs1433852047 Nephronophthisis 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022542 p.Thr946Ala LP/P - Senior-Loken syndrome 4 (SLSN4) [MIM:606996] NPHP4 O75161 VAR_022543 p.Arg961His LP/P rs183885357 Nephronophthisis 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022544 p.Ala1098Thr LP/P rs41280798 Nephronophthisis 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022545 p.Arg1192Trp LP/P rs139022622 Nephronophthisis 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022546 p.Thr1225Met LP/P rs144624477 Senior-Loken syndrome 4 (SLSN4) [MIM:606996] NPHP4 O75161 VAR_022547 p.Arg1284Cys LP/P rs779755743 Nephronophthisis 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022548 p.Gln1287Glu LP/P rs201779243 Nephronophthisis 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_037622 p.Leu939Gln LB/B rs1287637 - NPHP4 O75161 VAR_037623 p.Arg959Gln LB/B rs12084067 - NPHP4 O75161 VAR_065557 p.Arg160Leu US - - NPHP4 O75161 VAR_076785 p.His164Tyr US rs761063669 - NPHP4 O75161 VAR_076786 p.Pro541Leu US rs145255635 - NPHP4 O75161 VAR_076787 p.Val883Met US rs769851221 - NPHP4 O75161 VAR_076788 p.Arg906Cys US rs199992272 - NPHP4 O75161 VAR_076789 p.Arg1044His LB/B rs375819124 - NPHP4 O75161 VAR_076790 p.Ala1110Val US rs139767853 - NPHP4 O75161 VAR_076791 p.Val1236Met LB/B rs781049266 - NPHP4 O75161 VAR_079179 p.Thr315Met LB/B rs200684272 - NPHS1 O60500 VAR_013029 p.Trp64Ser LP/P rs386833897 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013030 p.Glu117Lys LB/B rs3814995 - NPHS1 O60500 VAR_013031 p.Ile171Asn LP/P rs386833946 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013033 p.Ile173Asn LP/P rs386833949 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013035 p.Gly270Cys LP/P rs386833961 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013036 p.Ser350Pro LP/P rs386833863 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013037 p.Ser366Arg LP/P rs386833864 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013038 p.Arg367Cys LP/P rs386833865 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013039 p.Pro368Ser LP/P rs386833866 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013040 p.Leu376Val LP/P rs386833868 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013041 p.Arg408Gln LB/B rs33950747 - NPHS1 O60500 VAR_013042 p.Glu447Lys LB/B rs28939695 - NPHS1 O60500 VAR_013043 p.Cys465Tyr LP/P rs386833881 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013044 p.Cys528Phe LP/P rs386833885 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013045 p.Leu610Gln LP/P rs386833894 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013046 p.Cys623Phe LP/P rs386833895 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013047 p.Ser724Cys LP/P rs386833905 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013048 p.Arg743Cys LP/P rs386833909 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013049 p.Arg802Trp LP/P rs386833911 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013050 p.Arg802Pro LP/P rs114203578 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013051 p.Ala806Asp LP/P rs386833912 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013052 p.Asp819Val LP/P rs387906357 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013053 p.Arg831Cys LP/P rs386833915 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013054 p.Asn1077Ser LB/B rs4806213 - NPHS1 O60500 VAR_013055 p.Arg1140Cys LP/P rs143092783 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_049970 p.Thr233Ala LB/B rs35238405 - NPHS1 O60500 VAR_049971 p.Leu392Pro LB/B rs34320609 - NPHS1 O60500 VAR_049972 p.Val991Leu LB/B rs34736717 - NPHS1 O60500 VAR_064194 p.Leu96Val LP/P rs386833929 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064195 p.Ala107Thr LP/P rs386833933 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064196 p.Ala107Val LP/P rs386833934 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064197 p.Pro167Leu LP/P rs386833945 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064198 p.Arg256Trp LP/P rs386833960 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064199 p.Pro264Arg LB/B rs34982899 - NPHS1 O60500 VAR_064200 p.Cys265Arg LP/P rs267606917 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064201 p.Arg299Cys LP/P rs753476209 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064202 p.Pro340His LP/P rs386833861 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064203 p.Gly347Glu LP/P rs386833862 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064204 p.Pro368Leu LP/P rs386833867 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064205 p.Arg379Trp LP/P rs386833871 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064206 p.Arg407Trp LP/P rs386833874 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064207 p.Gly412Cys LP/P rs142008044 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064208 p.Cys417Phe LP/P rs386833875 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064209 p.Arg460Gln LP/P rs386833880 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064210 p.Pro519Ser LP/P rs386833884 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064211 p.Arg558Cys LP/P rs386833886 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064212 p.Ser569Arg LP/P rs386833888 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064213 p.Ser572Asn LP/P rs386833889 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064214 p.Pro575Gln LP/P rs386833890 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064215 p.Arg586Gly LP/P rs730880174 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064216 p.Leu587Arg LP/P rs386833892 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064217 p.His617Arg US rs764058957 - NPHS1 O60500 VAR_064218 p.Asn673Lys LP/P rs191807913 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064219 p.Trp681Cys LP/P rs386833900 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064220 p.Val709Gly LP/P rs386833902 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064221 p.Glu725Asp US - - NPHS1 O60500 VAR_064222 p.Ala739Val LP/P rs386833907 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064223 p.Val822Met LP/P rs267606918 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064224 p.Leu832Pro LP/P rs386833916 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064225 p.Val834Phe LP/P rs386833917 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064226 p.Ala851Val US - Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064227 p.Ser910Pro LP/P rs143649022 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064228 p.Arg976Ser LP/P rs138656762 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_067252 p.Ile742Thr LP/P rs386833908 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_072161 p.Leu237Pro LP/P rs373835033 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_072162 p.Ala912Thr LP/P rs763162233 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_072163 p.Gly1020Val LP/P rs749003854 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_072375 p.Asn188Ile LP/P rs145125791 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_072376 p.Glu189Lys LP/P rs139598219 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_072377 p.Thr294Ile LP/P rs113825926 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_072378 p.Val608Ile LP/P rs367976914 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_072379 p.Ser1016Asn LP/P rs367986918 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_075252 p.Ile446Asn US rs386833879 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_075253 p.Arg711His US rs926025297 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_075254 p.Val736Met US rs1131692245 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_079794 p.Ala107Glu LP/P rs386833934 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_079795 p.Cys567Ser LP/P rs1468337078 Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_079796 p.Gly1096Cys US - Nephrotic syndrome 1 (NPHS1) [MIM:256300] NPHS2 Q9NP85 VAR_010231 p.Pro20Leu LB/B rs74315344 - NPHS2 Q9NP85 VAR_010232 p.Gly92Cys LP/P rs74315345 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_010233 p.Arg138Gln LP/P rs74315342 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_010234 p.Asp160Gly LP/P rs74315346 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_010235 p.Val180Met LP/P rs74315347 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_010236 p.Arg291Trp LP/P rs74315348 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071212 p.Ala29Thr LP/P rs561887984 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071213 p.Gly34Glu LB/B - - NPHS2 Q9NP85 VAR_071214 p.Glu44Ala LB/B - - NPHS2 Q9NP85 VAR_071215 p.Ala61Val LB/B rs201050491 - NPHS2 Q9NP85 VAR_071216 p.Gly97Ser US rs200913299 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071217 p.Leu107Pro LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071218 p.Thr116Pro LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071219 p.Pro118Leu LP/P rs869025495 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071220 p.Trp122Ser LP/P rs750332447 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071221 p.Arg168Cys LP/P rs786204583 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071222 p.Arg168His LP/P rs530318579 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071223 p.Arg168Ser LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071224 p.Leu172Val US - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071225 p.Pro175Val LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071226 p.Asp183Tyr LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071227 p.Met187Ile US rs1673966819 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071228 p.Ala208Thr LP/P rs200587413 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071229 p.Thr221Ile LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071230 p.Arg229Gln US rs61747728 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071232 p.Glu237Gln LB/B rs146906190 - NPHS2 Q9NP85 VAR_071233 p.Arg238Ser LP/P rs748812981 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071234 p.Ala242Val LB/B rs61747727 - NPHS2 Q9NP85 VAR_071235 p.Val260Glu LP/P rs775006954 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071236 p.Glu264Gln LB/B rs369697947 - NPHS2 Q9NP85 VAR_071237 p.Glu281Ala LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071238 p.Glu281Lys LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071239 p.Val290Met LP/P rs200482683 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071240 p.Glu296Lys LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071241 p.Ala309Val LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071242 p.Thr315Ile US - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_071243 p.Glu333Gly US rs866921812 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072134 p.Arg3Gly LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072135 p.Arg18Thr LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072136 p.Arg26Met LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072137 p.Lys28Met LP/P rs1340195940 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072138 p.Glu30Lys LP/P rs1477180313 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072139 p.Glu30Gln LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072140 p.Gln39Leu LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072141 p.Pro89Thr LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072142 p.Met115Thr LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072143 p.Trp122Leu LP/P rs750332447 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072144 p.Cys124Trp LP/P rs139290621 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072145 p.Lys126Asn LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072146 p.Leu139Arg LP/P rs1345260812 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072147 p.Leu142Pro LP/P rs12240233 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072148 p.Ile192Val LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072149 p.Ser211Ala LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072150 p.Ala213Thr LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072151 p.Val218Gly LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072152 p.His228Asp LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072153 p.Arg229Leu LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072154 p.Asp267Asn LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072155 p.Val268Leu LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072156 p.His276Leu LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072158 p.Arg322Gln LP/P rs776859868 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072159 p.Pro341Ser LP/P rs1214047676 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_072160 p.Val370Gly LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_075617 p.Ala284Val US rs780761368 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_075618 p.Glu310Lys US - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_079809 p.Ala297Val LB/B rs199506378 - NPHS2 Q9NP85 VAR_079810 p.Glu310Val US rs1572255744 Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_079811 p.Gln328Arg US - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_087598 p.Arg138Pro LP/P - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_087599 p.Cys254Phe US - Nephrotic syndrome 2 (NPHS2) [MIM:600995] NPIPA1 Q9UND3 VAR_034141 p.Arg93Cys LB/B rs1136474 - NPM3 O75607 VAR_050410 p.Ser16Asn LB/B rs34376117 - NPM3 O75607 VAR_050411 p.Asn80Ile LB/B rs2735420 - NPNT Q6UXI9 VAR_033314 p.Gln159His LB/B rs35132891 - NPNT Q6UXI9 VAR_033315 p.Ile234Val LB/B rs4340795 - NPNT Q6UXI9 VAR_033316 p.Gly473Ser LB/B rs35613262 - NPNT Q6UXI9 VAR_033317 p.Met476Thr LB/B rs35488797 - NPPA P01160 VAR_014579 p.Val32Met LB/B rs5063 - NPPA P01160 VAR_071307 p.Arg150Gln LP/P rs202102042 Atrial standstill 2 (ATRST2) [MIM:615745] NPPB P16860 VAR_014580 p.Arg25Leu LB/B rs5227 - NPPB P16860 VAR_014581 p.Arg47His LB/B rs5229 - NPPB P16860 VAR_014582 p.Met93Leu LB/B rs5230 - NPPC P23582 VAR_014583 p.Arg82Gln LB/B rs5267 - NPR1 P16066 VAR_042214 p.Ala182Val LB/B rs56019647 - NPR1 P16066 VAR_042215 p.Phe270Cys US - A breast pleomorphic lobular carcinoma sample NPR1 P16066 VAR_042216 p.Val755Met LB/B rs55837780 - NPR1 P16066 VAR_042217 p.Arg939Gln LB/B rs35240348 - NPR1 P16066 VAR_042218 p.Glu967Lys LB/B rs35479618 - NPR2 P20594 VAR_011968 p.Gln771Glu LB/B rs5816 - NPR2 P20594 VAR_022583 p.Pro32Thr LP/P rs28931581 Acromesomelic dysplasia 1 (AMD1) [MIM:602875] NPR2 P20594 VAR_022584 p.Trp115Gly LP/P rs28931582 Acromesomelic dysplasia 1 (AMD1) [MIM:602875] NPR2 P20594 VAR_022585 p.Asp176Glu LP/P rs28929479 Acromesomelic dysplasia 1 (AMD1) [MIM:602875] NPR2 P20594 VAR_022586 p.Thr297Met LP/P rs1313765432 Acromesomelic dysplasia 1 (AMD1) [MIM:602875] NPR2 P20594 VAR_022587 p.Tyr338Cys LP/P rs1828087195 Acromesomelic dysplasia 1 (AMD1) [MIM:602875] NPR2 P20594 VAR_022588 p.Ala409Thr LP/P - Acromesomelic dysplasia 1 (AMD1) [MIM:602875] NPR2 P20594 VAR_022589 p.Gly413Glu LP/P - Acromesomelic dysplasia 1 (AMD1) [MIM:602875] NPR2 P20594 VAR_022590 p.Tyr708Cys LP/P rs1305337032 Acromesomelic dysplasia 1 (AMD1) [MIM:602875] NPR2 P20594 VAR_022591 p.Arg776Trp LP/P rs1303913631 Acromesomelic dysplasia 1 (AMD1) [MIM:602875] NPR2 P20594 VAR_022592 p.Arg957Cys LP/P rs370158184 Acromesomelic dysplasia 1 (AMD1) [MIM:602875] NPR2 P20594 VAR_022593 p.Gly959Ala LP/P - Acromesomelic dysplasia 1 (AMD1) [MIM:602875] NPR2 P20594 VAR_042219 p.Met232Ile LB/B rs55747238 - NPR2 P20594 VAR_042220 p.Val882Ile LB/B rs55700371 - NPR2 P20594 VAR_071875 p.Ala488Pro LP/P rs587777597 Epiphyseal chondrodysplasia, Miura type (ECDM) [MIM:615923] NPR2 P20594 VAR_071876 p.Arg655Cys LP/P rs587777596 Epiphyseal chondrodysplasia, Miura type (ECDM) [MIM:615923] NPR2 P20594 VAR_071877 p.Val882Met LP/P - Epiphyseal chondrodysplasia, Miura type (ECDM) [MIM:615923] NPR2 P20594 VAR_074678 p.Ser76Pro LP/P rs796065355 Short stature with non-specific skeletal abnormalities (SNSK) [MIM:616255] NPR2 P20594 VAR_074679 p.Arg110Cys LP/P rs758478717 Short stature with non-specific skeletal abnormalities (SNSK) [MIM:616255] NPR2 P20594 VAR_074680 p.Val187Ile LB/B rs768423636 - NPR2 P20594 VAR_074681 p.Arg263Pro LP/P rs139036657 Short stature with non-specific skeletal abnormalities (SNSK) [MIM:616255] NPR2 P20594 VAR_074682 p.Gln417Glu LP/P rs796065356 Short stature with non-specific skeletal abnormalities (SNSK) [MIM:616255] NPR2 P20594 VAR_074683 p.Arg819Cys LP/P rs766256429 Short stature with non-specific skeletal abnormalities (SNSK) [MIM:616255] NPR2 P20594 VAR_076481 p.Leu658Phe LP/P rs1314542724 Acromesomelic dysplasia 1 (AMD1) [MIM:602875] NPR3 P17342 VAR_086244 p.Ser148Pro LP/P - Boudin-Mortier syndrome (BOMOS) [MIM:619543] NPR3 P17342 VAR_086245 p.Asp363Val LP/P - Boudin-Mortier syndrome (BOMOS) [MIM:619543] NPRL2 Q8WTW4 VAR_077122 p.Leu105Pro LP/P rs886037965 Epilepsy, familial focal, with variable foci 2 (FFEVF2) [MIM:617116] NPRL2 Q8WTW4 VAR_077123 p.Thr110Ser US - Epilepsy, familial focal, with variable foci 2 (FFEVF2) [MIM:617116] NPRL2 Q8WTW4 VAR_077124 p.Pro198His US rs745518585 Epilepsy, familial focal, with variable foci 2 (FFEVF2) [MIM:617116] NPRL2 Q8WTW4 VAR_077125 p.Asp214His US rs149128231 Epilepsy, familial focal, with variable foci 2 (FFEVF2) [MIM:617116] NPRL3 Q12980 VAR_077126 p.Arg92Gln US rs367729589 Epilepsy, familial focal, with variable foci 3 (FFEVF3) [MIM:617118] NPRL3 Q12980 VAR_077127 p.Glu249Lys US rs200041907 Epilepsy, familial focal, with variable foci 3 (FFEVF3) [MIM:617118] NPS P0C0P6 VAR_051239 p.Ser14Leu LB/B rs990310 - NPS P0C0P6 VAR_051240 p.Val75Leu LB/B rs4751440 - NPSR1 Q6W5P4 VAR_023757 p.Asn107Ile LB/B rs324981 - NPSR1 Q6W5P4 VAR_023758 p.Ser241Arg LB/B rs727162 - NPSR1 Q6W5P4 VAR_023759 p.Gln344Arg LB/B rs6972158 - NPSR1 Q6W5P4 VAR_025103 p.Arg122Gln LB/B rs35436513 - NPSR1 Q6W5P4 VAR_025104 p.Ser143Gly LB/B rs325465 - NPSR1 Q6W5P4 VAR_025105 p.Cys197Phe LB/B rs34705969 - NPSR1 Q6W5P4 VAR_025106 p.Thr212Ile LB/B rs35537374 - NPSR1 Q6W5P4 VAR_025107 p.Ile315Thr LB/B rs10270766 - NPTX1 Q15818 VAR_087974 p.Arg143Leu US - Spinocerebellar ataxia 50 (SCA50) [MIM:620158] NPTX1 Q15818 VAR_087975 p.Glu327Gly US - Spinocerebellar ataxia 50 (SCA50) [MIM:620158] NPTX1 Q15818 VAR_087976 p.Gln370Arg LP/P - Spinocerebellar ataxia 50 (SCA50) [MIM:620158] NPTX1 Q15818 VAR_087977 p.Gly389Arg LP/P rs1466750124 Spinocerebellar ataxia 50 (SCA50) [MIM:620158] NPVF Q9HCQ7 VAR_014073 p.Met32Ile LB/B rs886354 - NPVF Q9HCQ7 VAR_014074 p.Asp42Gly LB/B rs877834 - NPVF Q9HCQ7 VAR_030644 p.Val121Met LB/B rs3213641 - NPW Q8N729 VAR_050292 p.Asp149Ala LB/B rs2286472 - NPY P01303 VAR_014598 p.Leu7Pro LB/B rs16139 - NPY P01303 VAR_014599 p.Leu22Met LB/B rs5571 - NPY1R P25929 VAR_014681 p.Lys374Thr LB/B rs5578 - NPY4R P50391 VAR_030337 p.Ala99Ser LB/B rs2229967 - NPY4R P50391 VAR_030338 p.Cys240Arg LB/B rs1352903918 - NQO1 P15559 VAR_008384 p.Pro187Ser LB/B rs1800566 - NQO1 P15559 VAR_016170 p.Arg139Trp LB/B rs1131341 - NQO1 P15559 VAR_050220 p.Gln269His LB/B rs34447156 - NQO2 P16083 VAR_021399 p.Lys16Arg LB/B rs28383623 - NQO2 P16083 VAR_021400 p.Glu29Gly LB/B rs17136117 - NQO2 P16083 VAR_021401 p.Leu47Phe LB/B rs1143684 - NQO2 P16083 VAR_021402 p.Gly58Asp LB/B rs17300141 - NQO2 P16083 VAR_021403 p.Val184Ala LB/B rs28383651 - NR0B1 P51843 VAR_004738 p.Arg267Pro LP/P rs104894888 Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_004740 p.Val287Gly LP/P - Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_004741 p.Ala300Val LP/P - Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_004742 p.Glu377Lys LP/P - Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_004743 p.Lys382Asn LP/P rs104894896 Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_004744 p.Val385Gly LP/P - Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_004745 p.Arg425Gly LP/P - Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_004746 p.Asn440Ile LP/P rs28935481 Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_018300 p.Tyr380Asp LP/P rs104894900 Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_018301 p.Leu381His LP/P rs104894899 Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_018302 p.Ile439Ser LP/P rs104894897 Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_018303 p.Leu295Pro LP/P - Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_018304 p.Ala300Pro LP/P - Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_018305 p.Arg425Thr LP/P - Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_018306 p.Leu466Arg LP/P - Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_031079 p.Leu278Pro LP/P - Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_031080 p.Trp291Cys LP/P rs28935482 Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1 P51843 VAR_031081 p.Leu297Pro LP/P rs104894907 Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B2 Q15466 VAR_026015 p.Arg57Trp LB/B rs777291973 - NR0B2 Q15466 VAR_026016 p.Gly189Glu LB/B rs202154574 - NR0B2 Q15466 VAR_026017 p.Ala195Ser LB/B rs74315350 - NR0B2 Q15466 VAR_026018 p.Arg213Cys LB/B rs199976415 - NR0B2 Q15466 VAR_026019 p.Arg216His LB/B rs200475847 - NR0B2 Q15466 VAR_050584 p.Gly171Ala LB/B rs6659176 - NR1D2 Q14995 VAR_047377 p.Pro21His LB/B rs17854365 - NR1D2 Q14995 VAR_047378 p.Gln282Lys LB/B rs17857305 - NR1D2 Q14995 VAR_047379 p.Pro288Arg LB/B rs17857306 - NR1D2 Q14995 VAR_047380 p.Met386Leu LB/B rs4858097 - NR1H2 P55055 VAR_050579 p.Ser2Phe LB/B rs41379547 - NR1H3 Q13133 VAR_050580 p.Gly52Val LB/B rs41481445 - NR1I2 O75469 VAR_012228 p.Pro27Ser LB/B rs12721613 - NR1I2 O75469 VAR_012229 p.Gly36Arg LB/B rs12721607 - NR1I2 O75469 VAR_012230 p.Arg122Gln LB/B rs12721608 - NR1I2 O75469 VAR_018340 p.Arg98Cys LB/B rs72551371 - NR1I2 O75469 VAR_018341 p.Arg148Gln LB/B rs72551373 - NR1I2 O75469 VAR_018342 p.Arg381Trp LB/B rs72551375 - NR1I2 O75469 VAR_018343 p.Ile403Val LB/B rs72551376 - NR1I2 O75469 VAR_033237 p.Glu18Lys LB/B rs59371185 - NR1I2 O75469 VAR_033238 p.Ala370Thr LB/B rs35761343 - NR1I2 O75469 VAR_050581 p.Ala12Thr LB/B rs1063955 - NR1I3 Q14994 VAR_018344 p.Val133Gly LB/B - - NR1I3 Q14994 VAR_080264 p.Phe247Ser US rs398122411 - NR2E3 Q9Y5X4 VAR_009266 p.Arg76Gln LP/P rs104894493 Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_009267 p.Arg76Trp LP/P rs104894492 Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_010025 p.Arg97His LP/P rs1489149705 Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_010026 p.Arg104Trp LP/P rs990307718 Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_010027 p.Glu121Lys LP/P rs146403122 Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_010028 p.Glu140Gly LB/B rs1805020 - NR2E3 Q9Y5X4 VAR_010029 p.Met163Thr LB/B rs1805021 - NR2E3 Q9Y5X4 VAR_010030 p.Val232Ile LB/B rs1805023 - NR2E3 Q9Y5X4 VAR_010031 p.Trp234Ser LP/P - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_010032 p.Val302Ile LB/B rs1805025 - NR2E3 Q9Y5X4 VAR_010033 p.Arg309Gly LP/P rs774102273 Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_010034 p.Arg311Gln LP/P rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_010035 p.Arg385Pro LP/P rs766769900 Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_010036 p.Met407Lys LP/P rs1303613101 Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_020839 p.Gly88Val LP/P rs1278137915 Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_020840 p.Ala256Glu LP/P rs377257254 Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_020841 p.Leu263Pro LP/P rs2054201996 Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_020842 p.Leu336Pro LP/P rs752883545 Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_020843 p.Leu353Val LP/P - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_037026 p.Gly56Arg LP/P rs121912631 Retinitis pigmentosa 37 (RP37) [MIM:611131] NR2E3 Q9Y5X4 VAR_062768 p.Ser44Leu US rs202098481 Retinitis pigmentosa 37 (RP37) [MIM:611131] NR2E3 Q9Y5X4 VAR_062769 p.Arg104Gln LP/P rs766096417 Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_062770 p.Gly287Ser US rs764901119 Retinitis pigmentosa 37 (RP37) [MIM:611131] NR2E3 Q9Y5X4 VAR_062771 p.Lys324Arg US - Retinitis pigmentosa 37 (RP37) [MIM:611131] NR2E3 Q9Y5X4 VAR_062772 p.Arg334Gly LP/P - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2F1 P10589 VAR_071319 p.Arg112Lys LP/P rs587777277 Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722] NR2F1 P10589 VAR_071320 p.Ser113Arg LP/P rs587777275 Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722] NR2F1 P10589 VAR_071321 p.Arg115Pro LP/P rs587777274 Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722] NR2F1 P10589 VAR_071322 p.Leu252Pro LP/P rs587777276 Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722] NR2F2 P24468 VAR_071767 p.Asp170Val LP/P - Congenital heart defects, multiple types, 4 (CHTD4) [MIM:615779] NR2F2 P24468 VAR_071768 p.Asn205Ile LP/P rs587777372 Congenital heart defects, multiple types, 4 (CHTD4) [MIM:615779] NR2F2 P24468 VAR_071769 p.Glu251Asp LP/P - Congenital heart defects, multiple types, 4 (CHTD4) [MIM:615779] NR2F2 P24468 VAR_071770 p.Ser341Tyr LP/P rs587777371 Congenital heart defects, multiple types, 4 (CHTD4) [MIM:615779] NR2F2 P24468 VAR_071771 p.Ala412Ser LP/P rs201527820 Congenital heart defects, multiple types, 4 (CHTD4) [MIM:615779] NR3C1 P04150 VAR_004675 p.Asn363Ser LB/B rs56149945 - NR3C1 P04150 VAR_004676 p.Asp641Val LP/P rs104893908 Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1 P04150 VAR_004677 p.Val729Ile LP/P rs1027058734 Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1 P04150 VAR_004678 p.Leu753Phe LB/B rs121909726 - NR3C1 P04150 VAR_013472 p.Arg477His LP/P rs104893913 Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1 P04150 VAR_013473 p.Gly679Ser LP/P rs104893914 Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1 P04150 VAR_014140 p.Arg23Lys LB/B rs6190 - NR3C1 P04150 VAR_014622 p.Phe65Val LB/B rs6192 - NR3C1 P04150 VAR_015628 p.Phe29Leu LB/B rs148102613 - NR3C1 P04150 VAR_015629 p.Leu112Phe LB/B rs542110718 - NR3C1 P04150 VAR_015630 p.Asp233Asn LB/B rs1241576112 - NR3C1 P04150 VAR_015631 p.Cys421Tyr LB/B - - NR3C1 P04150 VAR_015632 p.Ile559Asn LP/P rs104893909 Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1 P04150 VAR_015633 p.Ile747Met LP/P rs104893910 Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1 P04150 VAR_025014 p.Val571Ala LB/B rs104893911 - NR3C1 P04150 VAR_071935 p.Phe737Leu LP/P rs121909727 Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1 P04150 VAR_071936 p.Leu773Pro LP/P rs104893912 Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1 P04150 VAR_075797 p.Asn72Asp US - - NR3C1 P04150 VAR_075798 p.Val321Ala US - - NR3C1 P04150 VAR_075799 p.Val423Ala US - Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1 P04150 VAR_075800 p.Thr556Ile LP/P - Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1 P04150 VAR_075801 p.Val575Gly US - Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1 P04150 VAR_075802 p.Arg714Gln US - Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1 P04150 VAR_075803 p.His726Arg US - Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1 P04150 VAR_075804 p.Asn766Ser US - - NR3C1 P04150 VAR_077143 p.Arg477Ser LP/P - Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1 P04150 VAR_077144 p.Tyr478Cys LP/P - Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1 P04150 VAR_077145 p.Leu672Pro LP/P - Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C2 P08235 VAR_014623 p.Val180Ile LB/B rs5522 - NR3C2 P08235 VAR_014624 p.Asn444Thr LB/B rs5523 - NR3C2 P08235 VAR_014625 p.Arg537Gln LB/B rs5526 - NR3C2 P08235 VAR_014626 p.Asn554Ser LB/B rs5527 - NR3C2 P08235 VAR_015625 p.Val241Ala US - - NR3C2 P08235 VAR_015626 p.Ser810Leu LP/P rs41511344 Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP) [MIM:605115] NR3C2 P08235 VAR_015627 p.Leu924Pro LP/P rs121912563 Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_029311 p.Phe826Tyr LB/B rs13306592 - NR3C2 P08235 VAR_031268 p.Gly633Arg LP/P rs121912566 Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031269 p.Cys645Ser LP/P - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031270 p.Arg659Ser LP/P - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031271 p.Pro759Ser LP/P - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031272 p.Leu769Pro LP/P - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031273 p.Asn770Lys LP/P - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031274 p.Gln776Arg LP/P rs121912565 Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031275 p.Ser805Pro LP/P - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031276 p.Ser815Arg LP/P - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031277 p.Ser818Leu LP/P rs121912573 Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031278 p.Glu972Gly LP/P rs121912574 Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031279 p.Leu979Pro LP/P rs121912567 Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_036063 p.His7Gln US - A colorectal cancer sample NR4A1 P22736 VAR_061534 p.Leu26Val LB/B rs1882118 - NR4A2 P43354 VAR_087381 p.Cys280Tyr LP/P - Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism (IDLDP) [MIM:619911] NR4A2 P43354 VAR_087382 p.Phe286Ser US - Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism (IDLDP) [MIM:619911] NR4A2 P43354 VAR_087383 p.Cys305Tyr LP/P - Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism (IDLDP) [MIM:619911] NR4A2 P43354 VAR_087384 p.Arg319Gln LP/P - Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism (IDLDP) [MIM:619911] NR4A2 P43354 VAR_087385 p.Cys323Phe US - Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism (IDLDP) [MIM:619911] NR4A2 P43354 VAR_087386 p.Asp392Gly US - Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism (IDLDP) [MIM:619911] NR5A1 Q13285 VAR_004737 p.Gly35Glu LP/P rs121918654 46,XY sex reversal 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_016982 p.Arg92Gln LP/P rs104894119 46,XX sex reversal 4 (SRXX4) [MIM:617480] NR5A1 Q13285 VAR_016982 p.Arg92Gln LP/P rs104894119 46,XY sex reversal 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_016982 p.Arg92Gln LP/P rs104894119 Adrenal insufficiency, NR5A1-related (AINR) [MIM:612964] NR5A1 Q13285 VAR_016983 p.Arg255Leu LP/P rs104894118 Adrenal insufficiency, NR5A1-related (AINR) [MIM:612964] NR5A1 Q13285 VAR_039106 p.Cys33Ser LP/P rs1832496590 46,XY sex reversal 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_039107 p.Arg84His LP/P rs375469069 46,XY sex reversal 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_039108 p.Gly146Ala LB/B rs1110061 - NR5A1 Q13285 VAR_062967 p.Gly123Ala LP/P rs200163795 Premature ovarian failure 7 (POF7) [MIM:612964] NR5A1 Q13285 VAR_062967 p.Gly123Ala LP/P rs200163795 Spermatogenic failure 8 (SPGF8) [MIM:613957] NR5A1 Q13285 VAR_062968 p.Pro129Leu LP/P rs200749741 Premature ovarian failure 7 (POF7) [MIM:612964] NR5A1 Q13285 VAR_062968 p.Pro129Leu LP/P rs200749741 Spermatogenic failure 8 (SPGF8) [MIM:613957] NR5A1 Q13285 VAR_062970 p.Asp293Asn LP/P rs121918655 Premature ovarian failure 7 (POF7) [MIM:612964] NR5A1 Q13285 VAR_063255 p.Val15Met LP/P rs104894124 46,XY sex reversal 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_063256 p.Met78Ile LP/P rs104894125 46,XY sex reversal 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_063257 p.Gly91Ser LP/P rs104894126 46,XY sex reversal 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_063258 p.Leu437Gln LP/P rs104894120 46,XY sex reversal 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_065866 p.Pro131Leu LP/P rs387906690 Spermatogenic failure 8 (SPGF8) [MIM:613957] NR5A1 Q13285 VAR_065867 p.Arg191Cys LP/P rs1253324106 Spermatogenic failure 8 (SPGF8) [MIM:613957] NR5A1 Q13285 VAR_065868 p.Gly212Ser LP/P rs201095702 Spermatogenic failure 8 (SPGF8) [MIM:613957] NR5A1 Q13285 VAR_065869 p.Asp238Asn LP/P rs780568525 Spermatogenic failure 8 (SPGF8) [MIM:613957] NR5A1 Q13285 VAR_078136 p.Cys65Tyr LP/P - 46,XY sex reversal 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_078137 p.Arg92Trp LP/P rs886039769 46,XX sex reversal 4 (SRXX4) [MIM:617480] NR5A1 Q13285 VAR_078137 p.Arg92Trp LP/P rs886039769 46,XY sex reversal 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_079572 p.Thr40Pro LP/P - 46,XY sex reversal 3 (SRXY3) [MIM:612965] NRAP Q86VF7 VAR_027556 p.Val208Ala LB/B rs2154028 - NRAP Q86VF7 VAR_027557 p.Tyr249Cys LB/B rs2185913 - NRAP Q86VF7 VAR_027558 p.Ala344Thr LB/B rs3121478 - NRAP Q86VF7 VAR_027559 p.Gln360Arg LB/B rs3127106 - NRAP Q86VF7 VAR_027560 p.Leu1531Pro LB/B rs11196389 - NRAP Q86VF7 VAR_034073 p.Ala132Ser LB/B rs34700024 - NRAP Q86VF7 VAR_034074 p.Gln186Glu LB/B rs35049661 - NRAP Q86VF7 VAR_034075 p.Ala282Thr LB/B rs2275799 - NRAP Q86VF7 VAR_034076 p.Ser490Leu LB/B rs3189030 - NRAP Q86VF7 VAR_034077 p.Asn519Ile LB/B rs2270182 - NRAP Q86VF7 VAR_034078 p.Ala674Val LB/B rs2286735 - NRAP Q86VF7 VAR_034079 p.Arg884Cys LB/B rs868738 - NRAP Q86VF7 VAR_034080 p.Ala1112Val LB/B rs1539587 - NRAP Q86VF7 VAR_050160 p.Asp484Asn LB/B rs11196400 - NRAP Q86VF7 VAR_050161 p.Ala647Ser LB/B rs2286734 - NRAP Q86VF7 VAR_050162 p.Ile1183Val LB/B rs10749138 - NRAP Q86VF7 VAR_050163 p.Arg1566Cys LB/B rs1885434 - NRAP Q86VF7 VAR_050164 p.Asp1569Asn LB/B rs11575798 - NRAP Q86VF7 VAR_050165 p.Ala1643Ser LB/B rs11575797 - NRAP Q86VF7 VAR_061357 p.Met1022Val LB/B rs34523503 - NRAS P01111 VAR_006845 p.Gly13Arg US rs121434595 Colorectal cancer NRAS P01111 VAR_006845 p.Gly13Arg LP/P rs121434595 Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] NRAS P01111 VAR_006846 p.Gln61Lys LP/P rs121913254 Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] NRAS P01111 VAR_006846 p.Gln61Lys LP/P rs121913254 Melanosis, neurocutaneous (NCMS) [MIM:249400] NRAS P01111 VAR_006847 p.Gln61Arg LP/P rs11554290 Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] NRAS P01111 VAR_006847 p.Gln61Arg LP/P rs11554290 Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] NRAS P01111 VAR_006847 p.Gln61Arg LP/P rs11554290 Melanosis, neurocutaneous (NCMS) [MIM:249400] NRAS P01111 VAR_006847 p.Gln61Arg LP/P rs11554290 Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] NRAS P01111 VAR_021194 p.Gly12Cys US rs121913250 Leukemia NRAS P01111 VAR_063084 p.Gly13Asp LP/P rs121434596 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] NRAS P01111 VAR_063084 p.Gly13Asp LP/P rs121434596 RAS-associated autoimmune leukoproliferative disorder (RALD) [MIM:614470] NRAS P01111 VAR_063085 p.Thr50Ile LP/P rs267606921 Noonan syndrome 6 (NS6) [MIM:613224] NRAS P01111 VAR_063086 p.Gly60Glu LP/P rs267606920 Noonan syndrome 6 (NS6) [MIM:613224] NRAS P01111 VAR_071129 p.Gly12Asp LP/P rs121913237 Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] NRAS P01111 VAR_071129 p.Gly12Asp LP/P rs121913237 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] NRAS P01111 VAR_071130 p.Pro34Leu LP/P rs397514553 Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] NRBP1 Q9UHY1 VAR_041359 p.Val365Ile LB/B rs56004639 - NRBP1 Q9UHY1 VAR_041360 p.Pro432Leu US rs753734841 An ovarian mucinous carcinoma sample NRBP1 Q9UHY1 VAR_041361 p.His460Arg LB/B rs34260196 - NRCAM Q92823 VAR_035528 p.His1093Pro US - A breast cancer sample NRCAM Q92823 VAR_035529 p.Gly1116Val US - A breast cancer sample NRCAM Q92823 VAR_047550 p.Pro545Ala LB/B rs6958498 - NRCAM Q92823 VAR_087388 p.Asp55Gly US rs1413634373 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) [MIM:619833] NRCAM Q92823 VAR_087390 p.Ser134Pro US - Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) [MIM:619833] NRCAM Q92823 VAR_087391 p.Gly197Asp US rs772993703 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) [MIM:619833] NRCAM Q92823 VAR_087392 p.Asn469Ser US rs201033539 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) [MIM:619833] NRCAM Q92823 VAR_087393 p.Arg853Cys US rs150373689 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) [MIM:619833] NRCAM Q92823 VAR_087394 p.Lys902Thr US rs139634064 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) [MIM:619833] NRCAM Q92823 VAR_087395 p.Gly913Asp US - Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) [MIM:619833] NRDC O43847 VAR_057058 p.Tyr832Ser LB/B rs34957144 - NRDE2 Q9H7Z3 VAR_057813 p.Cys32Phe LB/B rs7140914 - NRDE2 Q9H7Z3 VAR_060343 p.Asn1118Ser LB/B rs3737035 - NRDE2 Q9H7Z3 VAR_062239 p.Glu928Lys LB/B rs59039343 - NREP Q16612 VAR_051238 p.Glu43Gly LB/B rs11559 - NRG1 Q02297 VAR_009307 p.Arg38Gln LB/B rs3924999 - NRG1 Q02297 VAR_009308 p.Met463Lys LB/B - - NRG1 Q02297 VAR_053531 p.Met289Thr LB/B rs10503929 - NRG3 P56975 VAR_047386 p.Ser472Arg LB/B rs2295934 - NRG3 P56975 VAR_047387 p.Lys552Asn LB/B rs17101193 - NRIP1 P48552 VAR_023706 p.His221Arg LB/B rs139263261 - NRIP1 P48552 VAR_023707 p.Ile441Val LB/B rs150468995 - NRIP1 P48552 VAR_023708 p.Arg448Gly LB/B rs2229742 - NRIP1 P48552 VAR_023709 p.Ser803Leu LB/B rs61750208 - NRIP1 P48552 VAR_023710 p.Val1079Phe LB/B rs140803495 - NRIP1 P48552 VAR_034142 p.Tyr315Phe LB/B rs2228507 - NRIP1 P48552 VAR_051241 p.Val37Ile LB/B rs9941840 - NRIP1 P48552 VAR_051242 p.Asn567Ser LB/B rs9975169 - NRK Q7Z2Y5 VAR_033908 p.Val358Met LB/B rs209373 - NRK Q7Z2Y5 VAR_033909 p.Ala993Glu LB/B rs16984889 - NRK Q7Z2Y5 VAR_040951 p.Gln355His LB/B rs55862725 - NRK Q7Z2Y5 VAR_040952 p.Ser424Cys US - A breast infiltrating ductal carcinoma sample NRK Q7Z2Y5 VAR_040953 p.Pro426Ala LB/B rs55635933 - NRK Q7Z2Y5 VAR_040954 p.Glu579Gly LB/B rs56350428 - NRK Q7Z2Y5 VAR_040955 p.Glu679Gly LB/B rs35115195 - NRK Q7Z2Y5 VAR_040956 p.Ile880Leu US rs764355898 A colorectal adenocarcinoma sample NRK Q7Z2Y5 VAR_040957 p.Asp971Gly LB/B rs35334892 - NRK Q7Z2Y5 VAR_040958 p.Pro1106Ser LB/B rs35393519 - NRK Q7Z2Y5 VAR_040959 p.Ala1121Pro LB/B rs35720774 - NRK Q7Z2Y5 VAR_040960 p.His1276Leu LB/B rs35942881 - NRK Q7Z2Y5 VAR_040961 p.Gly1471Ala LB/B rs34232354 - NRK Q7Z2Y5 VAR_040962 p.Met1472Leu LB/B rs35609510 - NRK Q7Z2Y5 VAR_051653 p.Arg727His LB/B rs33936206 - NRL P54845 VAR_009268 p.Ser50Thr LP/P rs104894459 Retinitis pigmentosa 27 (RP27) [MIM:613750] NRL P54845 VAR_064977 p.Leu160Pro LP/P rs104894463 Retinal degeneration autosomal recessive clumped pigment type (RDCP) [MIM:613750] NRL P54845 VAR_068364 p.Arg170Ser LP/P rs1173385399 Retinitis pigmentosa 27 (RP27) [MIM:613750] NRL P54845 VAR_079382 p.Ser50Leu LP/P - Retinitis pigmentosa 27 (RP27) [MIM:613750] NRL P54845 VAR_079383 p.Ser50Pro LP/P - Retinitis pigmentosa 27 (RP27) [MIM:613750] NRL P54845 VAR_079384 p.Pro51Leu LP/P - Retinitis pigmentosa 27 (RP27) [MIM:613750] NRL P54845 VAR_079385 p.Pro51Ser LP/P rs794727281 Retinitis pigmentosa 27 (RP27) [MIM:613750] NRL P54845 VAR_079386 p.Pro51Thr LP/P - Retinitis pigmentosa 27 (RP27) [MIM:613750] NRL P54845 VAR_079387 p.Pro67Ser LP/P rs199691910 Retinitis pigmentosa 27 (RP27) [MIM:613750] NRL P54845 VAR_079388 p.Ala76Val US rs149921817 Retinal degeneration autosomal recessive clumped pigment type (RDCP) [MIM:613750] NRL P54845 VAR_079389 p.Met96Thr LP/P rs397514516 Retinitis pigmentosa 27 (RP27) [MIM:613750] NRL P54845 VAR_079390 p.Gly122Glu US rs757038765 Retinitis pigmentosa 27 (RP27) [MIM:613750] NRL P54845 VAR_079391 p.His125Gln US rs201970559 - NRP1 O14786 VAR_046536 p.Val179Ala LB/B rs7079053 - NRP1 O14786 VAR_046537 p.Phe561Leu LB/B rs2228637 - NRP1 O14786 VAR_056957 p.Val733Ile LB/B rs2228638 - NRP2 O60462 VAR_047754 p.Lys123Arg LB/B rs849541 - NRP2 O60462 VAR_065167 p.Glu602Lys LB/B rs1128169 - NRP2 O60462 VAR_067537 p.Arg334Cys LB/B rs114144673 - NRP2 O60462 VAR_067538 p.Arg428Trp LB/B rs139711818 - NRROS Q86YC3 VAR_083995 p.Leu10Pro US rs1737495759 Seizures, early-onset, with neurodegeneration and brain calcification (SENEBAC) [MIM:618875] NRSN1 Q8IZ57 VAR_029816 p.Ile41Val LB/B rs17299946 - NRSN1 Q8IZ57 VAR_053737 p.His104Tyr LB/B rs11544636 - NRSN2 Q9GZP1 VAR_053738 p.Leu41Val LB/B rs11556643 - NRSN2 Q9GZP1 VAR_053739 p.Ser65Cys LB/B rs17762763 - NRSN2 Q9GZP1 VAR_062158 p.Glu160Gln LB/B rs35731713 - NRTN Q99748 VAR_009498 p.Ala96Ser LB/B rs575363266 - NRXN1 Q9ULB1 VAR_050265 p.Tyr400Asn LB/B rs17040901 - NRXN1 Q9ULB1 VAR_070274 p.Gly28Ala LB/B rs199598542 - NRXN2 Q9P2S2 VAR_050266 p.Leu81Gln LB/B rs12273892 - NSA2 O95478 VAR_051862 p.Arg11Cys LB/B rs3733793 - NSD1 Q96L73 VAR_015775 p.Val614Leu LB/B rs3733875 - NSD1 Q96L73 VAR_015776 p.Ala691Thr LB/B rs28932177 - NSD1 Q96L73 VAR_015777 p.Ser726Pro LB/B rs28932178 - NSD1 Q96L73 VAR_015778 p.Ala1036Pro LB/B rs28932179 - NSD1 Q96L73 VAR_015779 p.Leu1091Ile LB/B rs35597015 - NSD1 Q96L73 VAR_015780 p.His1616Leu LP/P - Sotos syndrome (SOTOS) [MIM:117550] NSD1 Q96L73 VAR_015781 p.Leu1637Pro LP/P - Sotos syndrome (SOTOS) [MIM:117550] NSD1 Q96L73 VAR_015782 p.Cys1674Trp LP/P - Sotos syndrome (SOTOS) [MIM:117550] NSD1 Q96L73 VAR_015783 p.Ile1687Asn LP/P - Sotos syndrome (SOTOS) [MIM:117550] NSD1 Q96L73 VAR_015784 p.Gly1792Val LP/P - Sotos syndrome (SOTOS) [MIM:117550] NSD1 Q96L73 VAR_015785 p.Cys1925Arg LP/P - Sotos syndrome (SOTOS) [MIM:117550] NSD1 Q96L73 VAR_015786 p.Gly1955Asp LP/P - Sotos syndrome (SOTOS) [MIM:117550] NSD1 Q96L73 VAR_015787 p.Arg1984Gln LP/P rs587784169 Sotos syndrome (SOTOS) [MIM:117550] NSD1 Q96L73 VAR_015788 p.Tyr1997Cys LP/P rs797045825 Sotos syndrome (SOTOS) [MIM:117550] NSD1 Q96L73 VAR_015789 p.Arg2005Gln LP/P rs587784174 Sotos syndrome (SOTOS) [MIM:117550] NSD1 Q96L73 VAR_015790 p.Arg2017Gln LP/P rs587784177 Sotos syndrome (SOTOS) [MIM:117550] NSD1 Q96L73 VAR_015791 p.Arg2017Trp LP/P rs587784176 Sotos syndrome (SOTOS) [MIM:117550] NSD1 Q96L73 VAR_015792 p.His2143Gln LP/P rs121908068 Sotos syndrome (SOTOS) [MIM:117550] NSD1 Q96L73 VAR_015793 p.Cys2183Ser LP/P rs121908069 Sotos syndrome (SOTOS) [MIM:117550] NSD1 Q96L73 VAR_015794 p.Met2250Ile LB/B rs35848863 - NSD1 Q96L73 VAR_015795 p.Met2261Thr LB/B rs34165241 - NSD2 O96028 VAR_086790 p.Cys869Tyr LP/P - Rauch-Steindl syndrome (RAUST) [MIM:619695] NSD2 O96028 VAR_086791 p.Pro895Leu LP/P - Rauch-Steindl syndrome (RAUST) [MIM:619695] NSD2 O96028 VAR_086793 p.Lys1019Arg LP/P - Rauch-Steindl syndrome (RAUST) [MIM:619695] NSD2 O96028 VAR_086794 p.Glu1091Lys LP/P - Rauch-Steindl syndrome (RAUST) [MIM:619695] NSD2 O96028 VAR_086795 p.Ser1137Phe LP/P - Rauch-Steindl syndrome (RAUST) [MIM:619695] NSD3 Q9BZ95 VAR_028950 p.Arg383Pro LB/B rs2234552 - NSD3 Q9BZ95 VAR_061215 p.Thr186Met LB/B rs13034 - NSDHL Q15738 VAR_010207 p.Ala105Val LP/P rs104894909 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050] NSDHL Q15738 VAR_010208 p.Gly205Ser LP/P rs104894901 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050] NSDHL Q15738 VAR_065289 p.Ala182Pro LP/P rs104894904 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050] NSF P46459 VAR_029580 p.Thr476Met LB/B rs155733 - NSF P46459 VAR_085695 p.Ala459Thr LP/P - Developmental and epileptic encephalopathy 96 (DEE96) [MIM:619340] NSF P46459 VAR_085696 p.Pro563Leu LP/P - Developmental and epileptic encephalopathy 96 (DEE96) [MIM:619340] NSFL1C Q9UNZ2 VAR_017481 p.Asp290Asn LB/B rs9575 - NSL1 Q96IY1 VAR_016005 p.Met254Val LB/B rs15702 - NSL1 Q96IY1 VAR_051243 p.Ser4Phe LB/B rs17856201 - NSMAF Q92636 VAR_047023 p.Tyr626Cys LB/B rs2228505 - NSMCE1 Q8WV22 VAR_029822 p.Thr38Arg LB/B rs7195194 - NSMCE1 Q8WV22 VAR_029823 p.Asn47Ser LB/B rs17856580 - NSMCE2 Q96MF7 VAR_036327 p.Leu27Phe US - A breast cancer sample NSMCE2 Q96MF7 VAR_050537 p.Val66Ala LB/B rs11542104 - NSMCE3 Q96MG7 VAR_078021 p.Pro209Leu LP/P rs886037827 Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) [MIM:617241] NSMCE3 Q96MG7 VAR_078022 p.Leu264Phe LP/P rs199905054 Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) [MIM:617241] NSMCE4A Q9NXX6 VAR_057657 p.Ser72Thr LB/B rs1065683 - NSMF Q6X4W1 VAR_023003 p.Thr480Ala LP/P rs121918340 Hypogonadotropic hypogonadism 9 with or without anosmia (HH9) [MIM:614838] NSMF Q6X4W1 VAR_059699 p.Leu511Val LB/B rs34177733 - NSMF Q6X4W1 VAR_069967 p.Arg196His LP/P rs770597015 Hypogonadotropic hypogonadism 9 with or without anosmia (HH9) [MIM:614838] NSRP1 Q9H0G5 VAR_054104 p.Lys86Thr LB/B rs11544945 - NSUN2 Q08J23 VAR_032604 p.Val627Ile LB/B rs2303708 - NSUN2 Q08J23 VAR_068530 p.Gly679Arg LP/P rs587776908 Intellectual developmental disorder, autosomal recessive 5 (MRT5) [MIM:611091] NSUN3 Q9H649 VAR_032605 p.Ala295Val LB/B rs17854922 - NSUN3 Q9H649 VAR_085049 p.Ala141Pro US rs2077283982 Combined oxidative phosphorylation deficiency 48 (COXPD48) [MIM:619012] NSUN3 Q9H649 VAR_085050 p.Cys152Ser US rs2077284206 Combined oxidative phosphorylation deficiency 48 (COXPD48) [MIM:619012] NSUN4 Q96CB9 VAR_032606 p.Thr51Ala LB/B rs3737744 - NSUN4 Q96CB9 VAR_032607 p.Asn128Lys LB/B rs17102152 - NSUN4 Q96CB9 VAR_032608 p.Ile325Thr LB/B rs13374337 - NSUN4 Q96CB9 VAR_032609 p.Ile365Val LB/B rs9865 - NSUN5 Q96P11 VAR_051889 p.Pro183Ser LB/B rs34913552 - NSUN5P2 Q63ZY6 VAR_029476 p.Trp47Ser LB/B rs400282 - NSUN5P2 Q63ZY6 VAR_029477 p.Ala90Val LB/B rs395127 - NSUN5P2 Q63ZY6 VAR_029478 p.Cys272Arg LB/B rs17145838 - NSUN5P2 Q63ZY6 VAR_029479 p.Lys303Arg LB/B - - NSUN7 Q8NE18 VAR_032610 p.Ser308Ala LB/B rs2437323 - NSUN7 Q8NE18 VAR_059790 p.Thr622Ala LB/B rs4861066 - NT5C Q8TCD5 VAR_048102 p.Pro68Leu LB/B rs11541956 - NT5C2 P49902 VAR_024244 p.Thr3Ala LB/B rs10883841 - NT5C2 P49902 VAR_030242 p.Gln136Arg LB/B rs12262171 - NT5C2 P49902 VAR_079707 p.Leu460Pro US - Spastic paraplegia 45, autosomal recessive (SPG45) [MIM:613162] NT5C3A Q9H0P0 VAR_023511 p.Asp137Val LP/P rs104894025 P5N deficiency (P5ND) [MIM:266120] NT5C3A Q9H0P0 VAR_023512 p.Leu181Pro LP/P - P5N deficiency (P5ND) [MIM:266120] NT5C3A Q9H0P0 VAR_023513 p.Asn229Ser LP/P rs104894028 P5N deficiency (P5ND) [MIM:266120] NT5C3A Q9H0P0 VAR_023514 p.Gly280Arg LP/P rs104894029 P5N deficiency (P5ND) [MIM:266120] NT5C3A Q9H0P0 VAR_073160 p.Arg95Gly LP/P rs766577643 P5N deficiency (P5ND) [MIM:266120] NT5C3A Q9H0P0 VAR_073161 p.Cys113Arg LP/P - P5N deficiency (P5ND) [MIM:266120] NT5C3A Q9H0P0 VAR_073162 p.Gly207Arg LP/P - P5N deficiency (P5ND) [MIM:266120] NT5C3A Q9H0P0 VAR_073163 p.Ile297Thr LP/P - P5N deficiency (P5ND) [MIM:266120] NT5C3B Q969T7 VAR_042582 p.Ala209Val LB/B rs1046403 - NT5C3B Q969T7 VAR_042583 p.Ser213Cys LB/B rs1046404 - NT5DC2 Q9H857 VAR_034143 p.Ser91Arg LB/B rs35920544 - NT5DC3 Q86UY8 VAR_040043 p.Ala266Glu LB/B rs12184494 - NT5DC4 Q86YG4 VAR_088594 p.Tyr283Ser LB/B rs4849116 - NT5E P21589 VAR_022091 p.Thr376Ala LB/B rs2229523 - NT5E P21589 VAR_048103 p.Met379Thr LB/B rs2229524 - NT5E P21589 VAR_065185 p.Cys358Tyr LP/P rs387906620 Calcification of joints and arteries (CALJA) [MIM:211800] NTAN1 Q96AB6 VAR_051244 p.His283Asn LB/B rs1136001 - NTAN1 Q96AB6 VAR_051245 p.Ser287Pro LB/B rs1135999 - NTAQ1 Q96HA8 VAR_030882 p.Ile32Val LB/B rs6999234 - NTAQ1 Q96HA8 VAR_030883 p.Asn93Ser LB/B rs7014678 - NTAQ1 Q96HA8 VAR_030884 p.Phe116Ile LB/B rs6470147 - NTAQ1 Q96HA8 VAR_030885 p.Arg134Cys LB/B rs3824250 - NTF3 P20783 VAR_012084 p.Gly76Glu LB/B rs1805149 - NTF4 P34130 VAR_063196 p.Cys7Tyr US - Glaucoma 1, open angle, O (GLC1O) [MIM:613100] NTF4 P34130 VAR_063197 p.Glu84Lys US rs756962734 Glaucoma 1, open angle, O (GLC1O) [MIM:613100] NTF4 P34130 VAR_063198 p.Ala88Val LB/B rs61732310 - NTF4 P34130 VAR_063199 p.Ser89Asn LB/B rs374367338 - NTF4 P34130 VAR_063200 p.Arg90Cys LB/B rs751743400 - NTF4 P34130 VAR_063201 p.Arg90His US rs766504681 Glaucoma 1, open angle, O (GLC1O) [MIM:613100] NTF4 P34130 VAR_063202 p.Arg114Gly LB/B rs377553005 - NTF4 P34130 VAR_063203 p.Arg133His LB/B rs977260366 - NTF4 P34130 VAR_063204 p.Arg140Cys LB/B rs201069064 - NTF4 P34130 VAR_063205 p.Arg206Gln US rs121918428 Glaucoma 1, open angle, O (GLC1O) [MIM:613100] NTF4 P34130 VAR_063206 p.Arg206Trp LP/P rs121918427 Glaucoma 1, open angle, O (GLC1O) [MIM:613100] NTF4 P34130 VAR_063207 p.Thr207Ile LB/B rs371861346 - NTF4 P34130 VAR_063208 p.Thr207Ser LB/B - - NTF4 P34130 VAR_063209 p.Arg209Gly US rs200675509 Glaucoma 1, open angle, O (GLC1O) [MIM:613100] NTHL1 P78549 VAR_016125 p.Arg21Trp LB/B rs3087469 - NTHL1 P78549 VAR_016126 p.Arg33Lys LB/B rs2302172 - NTHL1 P78549 VAR_016127 p.Ile176Thr LB/B rs1805378 - NTHL1 P78549 VAR_016128 p.Asp239Tyr LB/B rs3087468 - NTHL1 P78549 VAR_029318 p.Ser234Leu LB/B rs3211977 - NTMT2 Q5VVY1 VAR_029859 p.Ser150Pro LB/B rs6427235 - NTMT2 Q5VVY1 VAR_060621 p.Ala72Gly LB/B rs12073565 - NTMT2 Q5VVY1 VAR_060622 p.Ser247Arg LB/B rs12735494 - NTN1 O95631 VAR_014279 p.Arg351His LB/B rs531668666 - NTN1 O95631 VAR_014280 p.Lys489Glu US - - NTN1 O95631 VAR_082027 p.Cys601Arg LP/P rs1567750186 Mirror movements 4 (MRMV4) [MIM:618264] NTN1 O95631 VAR_082028 p.Cys601Ser LP/P rs1567750187 Mirror movements 4 (MRMV4) [MIM:618264] NTN3 O00634 VAR_050086 p.Pro425Ser LB/B rs34818219 - NTN4 Q9HB63 VAR_023548 p.Tyr205His LB/B rs17288108 - NTNG2 Q96CW9 VAR_047847 p.Thr346Ala LB/B rs4962173 - NTNG2 Q96CW9 VAR_083458 p.Cys81Tyr LP/P rs1589440982 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) [MIM:618718] NTNG2 Q96CW9 VAR_083459 p.Trp107Gly LP/P rs1589441229 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) [MIM:618718] NTNG2 Q96CW9 VAR_083460 p.Met149Thr LP/P rs1589441679 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) [MIM:618718] NTNG2 Q96CW9 VAR_083461 p.Ser200Leu LP/P rs1227245973 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) [MIM:618718] NTNG2 Q96CW9 VAR_083462 p.Cys355Trp LP/P rs1589568476 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) [MIM:618718] NTNG2 Q96CW9 VAR_083463 p.Ser359Cys LP/P rs1589568530 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) [MIM:618718] NTNG2 Q96CW9 VAR_083464 p.Cys456Tyr LP/P rs1589576879 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) [MIM:618718] NTPCR Q9BSD7 VAR_053071 p.Gly106Glu LB/B rs12123482 - NTRK1 P04629 VAR_004103 p.Gly577Arg LP/P rs121964866 Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009623 p.Arg85Ser LB/B rs543320028 - NTRK1 P04629 VAR_009624 p.Leu93Pro LP/P - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009625 p.Leu213Pro LP/P rs747711259 Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009626 p.Gly522Arg LP/P rs1571699266 Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009627 p.Met587Val LP/P rs121964870 Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009628 p.His604Tyr LB/B rs6336 - NTRK1 P04629 VAR_009629 p.Gly613Val LB/B rs6339 - NTRK1 P04629 VAR_009630 p.Arg649Trp LP/P rs369353892 Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009631 p.Arg654Cys LP/P rs764992664 Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009632 p.Asp674Tyr LP/P rs80356677 Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009633 p.Pro695Leu LP/P rs121964868 Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009634 p.Gly714Ser LP/P rs770727871 Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009635 p.Arg780Pro LP/P rs35669708 Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009636 p.Arg780Gln LB/B rs35669708 - NTRK1 P04629 VAR_041461 p.Gln80Arg LB/B rs55891455 - NTRK1 P04629 VAR_041462 p.Ala107Val US rs540521894 An ovarian serous carcinoma sample NTRK1 P04629 VAR_041463 p.Thr237Met LB/B rs55909005 - NTRK1 P04629 VAR_041464 p.Val238Gly LB/B rs56000394 - NTRK1 P04629 VAR_041465 p.Arg260Gly LB/B rs35116695 - NTRK1 P04629 VAR_041466 p.Arg444Gln LB/B rs56320207 - NTRK1 P04629 VAR_041467 p.Arg452Cys LB/B rs34900547 - NTRK1 P04629 VAR_041468 p.Met566Thr LB/B rs55892037 - NTRK1 P04629 VAR_041469 p.Val790Ile LB/B rs55948542 - NTRK1 P04629 VAR_049714 p.Gly18Glu LB/B rs1007211 - NTRK1 P04629 VAR_068480 p.Arg6Trp LB/B rs201472270 - NTRK1 P04629 VAR_068481 p.Tyr359Cys LP/P rs121964869 Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_068482 p.Glu492Lys LP/P rs144901788 Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_077472 p.Gly517Glu LP/P rs606231467 Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_077473 p.Gly522Glu LP/P - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_077474 p.Ile572Ser LP/P - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_077475 p.Leu657Pro LP/P - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_077476 p.Ile699Thr LP/P - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_077477 p.Leu717Arg LP/P - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_077478 p.Cys752Ser US - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_077479 p.Cys763Ser LP/P - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_077480 p.Arg771Cys LP/P rs1324983370 Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_079399 p.Ala110Asp LP/P - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_079404 p.Asp596Asn LP/P - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_079405 p.Arg649Gln LP/P rs786205449 Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_079406 p.Leu700Pro LP/P - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK2 Q16620 VAR_011973 p.Asn338Tyr LB/B rs1047856 - NTRK2 Q16620 VAR_016320 p.Gly309Arg LB/B - - NTRK2 Q16620 VAR_041470 p.Leu138Phe US - A lung adenocarcinoma sample NTRK2 Q16620 VAR_046518 p.Met697Ile US - A lung carcinoma sample NTRK2 Q16620 VAR_046519 p.Arg699Gly US - A lung carcinoma sample NTRK2 Q16620 VAR_046520 p.Arg718Cys US rs1324578301 A lung carcinoma sample NTRK2 Q16620 VAR_049715 p.Gly545Val LB/B rs1075108 - NTRK2 Q16620 VAR_065890 p.Tyr706Cys LP/P rs121434633 Obesity, hyperphagia, and developmental delay (OBHD) [MIM:613886] NTRK2 Q16620 VAR_080659 p.Tyr434Cys US rs886041091 Developmental and epileptic encephalopathy 58 (DEE58) [MIM:617830] NTRK2 Q16620 VAR_080661 p.Thr704Ile US rs1554774973 Obesity, hyperphagia, and developmental delay (OBHD) [MIM:613886] NTRK3 Q16288 VAR_041471 p.Thr149Arg US rs368222977 A gastric adenocarcinoma sample NTRK3 Q16288 VAR_041472 p.Arg306Cys LB/B rs56386352 - NTRK3 Q16288 VAR_041473 p.Val307Leu US rs1388363572 A lung adenocarcinoma sample NTRK3 Q16288 VAR_041474 p.Leu336Gln US - A lung adenocarcinoma sample NTRK3 Q16288 VAR_041475 p.His677Tyr US - A lung adenocarcinoma sample NTRK3 Q16288 VAR_041476 p.Arg678Gln LB/B rs55890138 - NTRK3 Q16288 VAR_046521 p.Ala664Ser US - A lung carcinoma sample NTRK3 Q16288 VAR_046522 p.Trp736Cys US - A lung carcinoma sample NTRK3 Q16288 VAR_046523 p.Arg745Pro US - A lung carcinoma sample NTRK3 Q16288 VAR_046524 p.Tyr766Phe US - A lung carcinoma sample NTRK3 Q16288 VAR_046770 p.Arg735Phe US - A lung large cell carcinoma sample NTRK3 Q16288 VAR_046771 p.Lys768Arg LB/B rs55770052 - NTRK3 Q16288 VAR_046772 p.Glu781Lys LB/B rs56393451 - NTRK3 Q16288 VAR_074601 p.Val21Phe LB/B rs200822610 - NTRK3 Q16288 VAR_074602 p.Ile71Val US rs200923715 - NTRK3 Q16288 VAR_074603 p.Thr93Met US rs147992979 - NTRK3 Q16288 VAR_074604 p.Asn163Ile US rs547862658 - NTRK3 Q16288 VAR_074605 p.Ile533Phe US rs869112057 - NTRK3 Q16288 VAR_074606 p.Ile817Met US rs869209165 - NTSR1 P30989 VAR_020071 p.Val304Ile LB/B rs2273075 - NTSR1 P30989 VAR_049424 p.Gln275His LB/B rs35373650 - NTSR1 P30989 VAR_059328 p.Ala72Val LB/B rs11698783 - NTSR2 O95665 VAR_049425 p.Ala54Val LB/B rs6432225 - NTSR2 O95665 VAR_061225 p.Arg282Lys LB/B rs34764121 - NUAK1 O60285 VAR_017246 p.Pro543Arg LB/B rs3741883 - NUAK1 O60285 VAR_040963 p.Gly419Asp LB/B rs55774704 - NUAK2 Q9H093 VAR_040964 p.Thr309Ser LB/B rs55745939 - NUAK2 Q9H093 VAR_040965 p.Arg341Leu LB/B rs35208615 - NUAK2 Q9H093 VAR_040966 p.Lys503Arg US rs1271546767 An ovarian Endometrioid carcinoma sample NUAK2 Q9H093 VAR_040967 p.Ala516Val LB/B rs35070935 - NUAK2 Q9H093 VAR_040968 p.Gly541Glu US - A breast pleomorphic lobular carcinoma sample NUB1 Q9Y5A7 VAR_057369 p.Gln13Arg LB/B rs2302131 - NUBP1 P53384 VAR_020359 p.Pro39Ala LB/B rs2233531 - NUBP2 Q9Y5Y2 VAR_050099 p.Pro250Ser LB/B rs35030308 - NUBP2 Q9Y5Y2 VAR_050100 p.Thr266Met LB/B rs34028164 - NUBP2 Q9Y5Y2 VAR_061353 p.Thr200Ala LB/B rs57822546 - NUBPL Q8TB37 VAR_027895 p.Asn198Thr LB/B rs11558436 - NUBPL Q8TB37 VAR_064570 p.Gly56Arg US rs200401432 - NUBPL Q8TB37 VAR_069767 p.Asp105Tyr LP/P rs397515440 Mitochondrial complex I deficiency, nuclear type 21 (MC1DN21) [MIM:618242] NUBPL Q8TB37 VAR_069768 p.Leu193Phe LP/P rs552722349 Mitochondrial complex I deficiency, nuclear type 21 (MC1DN21) [MIM:618242] NUCB1 Q02818 VAR_012152 p.Arg399Gln LB/B rs200372110 - NUCB1 Q02818 VAR_061087 p.Met338Val LB/B rs35456905 - NUCB2 P80303 VAR_024399 p.Gln338Glu LB/B rs757081 - NUCKS1 Q9H1E3 VAR_051246 p.Glu119Gly LB/B rs3207505 - NUCKS1 Q9H1E3 VAR_051247 p.Leu137Pro LB/B rs17355035 - NUDCD1 Q96RS6 VAR_036632 p.Leu252Phe LB/B rs2980619 - NUDCD1 Q96RS6 VAR_036633 p.Ile269Val LB/B rs2980618 - NUDCD1 Q96RS6 VAR_036634 p.Asn394His LB/B rs34660136 - NUDCD1 Q96RS6 VAR_036635 p.Asn426Ser LB/B rs11550169 - NUDCD3 Q8IVD9 VAR_031709 p.Arg235Cys LB/B rs11550029 - NUDCD3 Q8IVD9 VAR_054036 p.Thr3Pro LB/B rs307007 - NUDT1 P36639 VAR_013757 p.Val83Met LB/B rs4866 - NUDT1 P36639 VAR_068715 p.Gly36Trp LB/B rs11547459 - NUDT11 Q96G61 VAR_022738 p.Ser39Asn LB/B - - NUDT12 Q9BQG2 VAR_034157 p.Lys129Glu LB/B rs35903418 - NUDT12 Q9BQG2 VAR_034158 p.Ile235Val LB/B rs34468716 - NUDT13 Q86X67 VAR_034160 p.Gly81Asp LB/B rs34284214 - NUDT13 Q86X67 VAR_050413 p.Met273Val LB/B rs17658872 - NUDT15 Q9NV35 VAR_076806 p.Val18Ile LB/B rs186364861 - NUDT15 Q9NV35 VAR_076808 p.Arg139Cys LB/B rs116855232 - NUDT15 Q9NV35 VAR_076809 p.Arg139His LB/B rs147390019 - NUDT19 A8MXV4 VAR_039831 p.Arg43Gln LB/B rs10413282 - NUDT22 Q9BRQ3 VAR_029616 p.Gly36Cys LB/B rs2286612 - NUDT22 Q9BRQ3 VAR_029617 p.Gln260Arg LB/B rs633561 - NUDT22 Q9BRQ3 VAR_029618 p.Leu263Pro LB/B rs633557 - NUDT22 Q9BRQ3 VAR_050414 p.Thr129Arg LB/B rs34448455 - NUDT5 Q9UKK9 VAR_034159 p.Ile123Thr LB/B rs34863826 - NUDT6 P53370 VAR_021909 p.Arg209Gln LB/B rs1048201 - NUDT6 P53370 VAR_050412 p.Cys114Arg LB/B rs12648093 - NUDT7 P0C024 VAR_050415 p.Arg100His LB/B rs308925 - NUDT7 P0C024 VAR_050416 p.Glu181Gly LB/B rs16946429 - NUF2 Q9BZD4 VAR_027490 p.Ser229Leu LB/B rs11802875 - NUF2 Q9BZD4 VAR_027491 p.Ser239Arg LB/B rs16852767 - NUFIP1 Q9UHK0 VAR_026978 p.Ser36Arg LB/B rs1140993 - NUGGC Q68CJ6 VAR_034823 p.Arg23Pro LB/B rs6998705 - NUGGC Q68CJ6 VAR_034824 p.Ser180Gly LB/B rs4732620 - NUGGC Q68CJ6 VAR_034825 p.Gln328Arg LB/B rs7817227 - NUGGC Q68CJ6 VAR_034826 p.Ser474Asn LB/B rs13279787 - NUGGC Q68CJ6 VAR_056814 p.Arg492Trp LB/B rs2305453 - NUMA1 Q14980 VAR_031679 p.Lys242Arg LB/B rs34239655 - NUMA1 Q14980 VAR_031680 p.Ala794Gly LB/B rs3750913 - NUMA1 Q14980 VAR_031681 p.Glu1153Asp LB/B rs34311364 - NUMA1 Q14980 VAR_031682 p.Val1825Met LB/B rs7949430 - NUMA1 Q14980 VAR_031683 p.Tyr1836His LB/B rs35586429 - NUMA1 Q14980 VAR_051248 p.Ala2049Thr LB/B rs5743685 - NUMB P49757 VAR_051249 p.Val387Ile LB/B rs17182272 - NUMB P49757 VAR_051250 p.Gly595Asp LB/B rs17781919 - NUP107 P57740 VAR_076358 p.Asp157Tyr LP/P rs864321633 Nephrotic syndrome 11 (NPHS11) [MIM:616730] NUP107 P57740 VAR_076359 p.Asp831Ala LP/P rs864321632 Nephrotic syndrome 11 (NPHS11) [MIM:616730] NUP107 P57740 VAR_078571 p.Asp447Asn LP/P rs1555178358 Ovarian dysgenesis 6 (ODG6) [MIM:618078] NUP107 P57740 VAR_081356 p.Met101Ile LP/P rs730882216 Galloway-Mowat syndrome 7 (GAMOS7) [MIM:618348] NUP107 P57740 VAR_081358 p.Tyr889Cys LP/P rs1565707103 Nephrotic syndrome 11 (NPHS11) [MIM:616730] NUP107 P57740 VAR_082054 p.Cys442Tyr US rs745342141 Galloway-Mowat syndrome 7 (GAMOS7) [MIM:618348] NUP133 Q8WUM0 VAR_030829 p.Thr106Pro LB/B rs428231 - NUP133 Q8WUM0 VAR_030830 p.Ile294Val LB/B rs11805194 - NUP133 Q8WUM0 VAR_030831 p.Gln406Arg LB/B rs1065674 - NUP133 Q8WUM0 VAR_035854 p.Gly326Val US - A breast cancer sample NUP133 Q8WUM0 VAR_035855 p.Gly448Arg US - A breast cancer sample NUP133 Q8WUM0 VAR_081359 p.Arg231Gly LP/P rs1558108130 Nephrotic syndrome 18 (NPHS18) [MIM:618177] NUP133 Q8WUM0 VAR_081360 p.Ser974Arg LP/P rs1558091788 Nephrotic syndrome 18 (NPHS18) [MIM:618177] NUP133 Q8WUM0 VAR_081361 p.Leu1055Ser LP/P rs376476266 Nephrotic syndrome 18 (NPHS18) [MIM:618177] NUP153 P49790 VAR_046554 p.Asp90Asn LB/B rs16879902 - NUP153 P49790 VAR_046555 p.Ile248Val LB/B rs2228375 - NUP153 P49790 VAR_046556 p.Asn402Lys LB/B rs6906499 - NUP153 P49790 VAR_046557 p.Pro821Leu LB/B rs6905654 - NUP153 P49790 VAR_046558 p.Ala827Thr LB/B rs2274136 - NUP153 P49790 VAR_046559 p.Thr1388Ala LB/B rs2228379 - NUP153 P49790 VAR_070841 p.Val381Phe LB/B rs17857419 - NUP155 O75694 VAR_071762 p.Arg391His LP/P rs587777339 Atrial fibrillation, familial, 15 (ATFB15) [MIM:615770] NUP160 Q12769 VAR_055409 p.Ala40Thr LB/B rs2305984 - NUP160 Q12769 VAR_055410 p.Thr351Ala LB/B rs3816605 - NUP160 Q12769 VAR_081362 p.Glu803Lys US rs775637217 Nephrotic syndrome 19 (NPHS19) [MIM:618178] NUP188 Q5SRE5 VAR_034792 p.Ala1419Val LB/B rs17433024 - NUP188 Q5SRE5 VAR_034793 p.Asn1587Lys LB/B rs12350674 - NUP188 Q5SRE5 VAR_085785 p.Met195Leu US - - NUP205 Q92621 VAR_050567 p.Pro33Ser LB/B rs7797639 - NUP205 Q92621 VAR_050568 p.Glu1356Gln LB/B rs7810767 - NUP205 Q92621 VAR_076471 p.Phe1995Ser LP/P rs869312984 Nephrotic syndrome 13 (NPHS13) [MIM:616893] NUP210 Q8TEM1 VAR_026474 p.Arg786Leu LB/B rs2280084 - NUP210 Q8TEM1 VAR_026475 p.Leu1752Ser LB/B rs354479 - NUP210 Q8TEM1 VAR_026476 p.Val1787Met LB/B rs354478 - NUP210 Q8TEM1 VAR_028147 p.Ala297Thr LB/B rs7628051 - NUP210 Q8TEM1 VAR_028148 p.Ile608Val LB/B rs3732671 - NUP210 Q8TEM1 VAR_028149 p.Ala755Val LB/B rs6795271 - NUP210 Q8TEM1 VAR_028150 p.Pro821Ala LB/B rs2280085 - NUP210 Q8TEM1 VAR_028151 p.Ala944Pro LB/B rs433032 - NUP210 Q8TEM1 VAR_028152 p.Met1096Ile LB/B rs2271505 - NUP210 Q8TEM1 VAR_028153 p.Asp1430Glu LB/B rs13081937 - NUP210L Q5VU65 VAR_050574 p.Val1491Ile LB/B rs11264875 - NUP214 P35658 VAR_035856 p.Gly424Ala US - A breast cancer sample NUP214 P35658 VAR_035857 p.Pro1378Leu US rs777822003 A breast cancer sample NUP214 P35658 VAR_035858 p.Ala1392Val US - A breast cancer sample NUP214 P35658 VAR_045691 p.Pro574Ser LB/B rs103612 - NUP214 P35658 VAR_061533 p.Gly1592Ala LB/B rs28594669 - NUP214 P35658 VAR_082629 p.Arg38Cys LP/P rs143595616 Encephalopathy, acute, infection-induced, 9 (IIAE9) [MIM:618426] NUP214 P35658 VAR_082630 p.Asp154Gly US rs1564175808 Encephalopathy, acute, infection-induced, 9 (IIAE9) [MIM:618426] NUP214 P35658 VAR_082631 p.Pro387Ser LP/P rs563025075 Encephalopathy, acute, infection-induced, 9 (IIAE9) [MIM:618426] NUP42 O15504 VAR_050572 p.Asp391Asn LB/B rs13243961 - NUP42 O15504 VAR_050573 p.Lys392Asn LB/B rs34902971 - NUP54 Q7Z3B4 VAR_088652 p.Ile358Ser US - Dystonia 37, early-onset, with striatal lesions (DYT37) [MIM:620427] NUP54 Q7Z3B4 VAR_088653 p.Lys376Glu US - Dystonia 37, early-onset, with striatal lesions (DYT37) [MIM:620427] NUP54 Q7Z3B4 VAR_088655 p.Glu472Lys US - Dystonia 37, early-onset, with striatal lesions (DYT37) [MIM:620427] NUP54 Q7Z3B4 VAR_088656 p.Leu474Phe US - Dystonia 37, early-onset, with striatal lesions (DYT37) [MIM:620427] NUP58 Q9BVL2 VAR_050570 p.Ala34Thr LB/B rs11556093 - NUP58 Q9BVL2 VAR_050571 p.Ser166Pro LB/B rs12871608 - NUP62 P37198 VAR_013467 p.Ala233Ser LB/B rs2290772 - NUP62 P37198 VAR_028064 p.Gly139Ser LB/B rs3745489 - NUP62 P37198 VAR_028065 p.Ser283Thr LB/B rs1062798 - NUP62 P37198 VAR_034904 p.Gln391Pro LP/P rs121917865 Infantile striatonigral degeneration (SNDI) [MIM:271930] NUP62CL Q9H1M0 VAR_028920 p.Ile177Thr LB/B rs1298577 - NUP62CL Q9H1M0 VAR_050569 p.Phe54Leu LB/B rs16987290 - NUP85 Q9BW27 VAR_081364 p.Ala477Val US rs1568094661 Nephrotic syndrome 17 (NPHS17) [MIM:618176] NUP85 Q9BW27 VAR_081365 p.Ala581Pro LP/P rs1321552081 Nephrotic syndrome 17 (NPHS17) [MIM:618176] NUP85 Q9BW27 VAR_081366 p.Arg645Trp LP/P rs368572297 Nephrotic syndrome 17 (NPHS17) [MIM:618176] NUP88 Q99567 VAR_029340 p.Asn289Ser LB/B rs1806245 - NUP88 Q99567 VAR_082159 p.Asp434Tyr LP/P rs1567568217 Fetal akinesia deformation sequence 4 (FADS4) [MIM:618393] NUP93 Q8N1F7 VAR_028160 p.Ser509Arg LB/B rs17853288 - NUP93 Q8N1F7 VAR_076473 p.Arg388Trp LP/P rs145146218 Nephrotic syndrome 12 (NPHS12) [MIM:616892] NUP93 Q8N1F7 VAR_076474 p.Gly591Val LP/P rs145473779 Nephrotic syndrome 12 (NPHS12) [MIM:616892] NUP93 Q8N1F7 VAR_076475 p.Tyr629Cys LP/P rs757674160 Nephrotic syndrome 12 (NPHS12) [MIM:616892] NUP98 P52948 VAR_035859 p.Gly1669Val US - A breast cancer sample NUS1 Q96E22 VAR_030092 p.Asn175Tyr LB/B rs28362518 - NUS1 Q96E22 VAR_030093 p.Asp179Glu LB/B rs28362519 - NUS1 Q96E22 VAR_030095 p.Lys216Arg LB/B rs1052239 - NUS1 Q96E22 VAR_030096 p.Thr219Lys LB/B rs1132147 - NUS1 Q96E22 VAR_071210 p.Arg290His LP/P rs886037858 Congenital disorder of glycosylation 1AA (CDG1AA) [MIM:617082] NUS1 Q96E22 VAR_083900 p.Gly91Cys US - - NUSAP1 Q9BXS6 VAR_057779 p.Thr33Ala LB/B rs7178634 - NUSAP1 Q9BXS6 VAR_057780 p.Thr33Asn LB/B rs7178777 - NUTM1 Q86Y26 VAR_037239 p.Pro22Leu LB/B rs374230 - NUTM1 Q86Y26 VAR_037240 p.Thr781Met LB/B rs16959028 - NUTM1 Q86Y26 VAR_037241 p.Val785Glu LB/B rs17236868 - NUTM1 Q86Y26 VAR_037242 p.Thr973Asn LB/B rs2279683 - NUTM1 Q86Y26 VAR_037243 p.Pro985Arg LB/B rs2279684 - NUTM1 Q86Y26 VAR_037244 p.Arg1113His LB/B rs2279685 - NUTM2F A1L443 VAR_068009 p.Ser137Cys LB/B rs202099818 - NUTM2F A1L443 VAR_068010 p.Arg176Gly LB/B rs190275133 - NVL O15381 VAR_015890 p.Cys359Gly LB/B - - NVL O15381 VAR_048109 p.Val295Ile LB/B rs12084919 - NVL O15381 VAR_048110 p.Val404Ile LB/B rs34631151 - NWD1 Q149M9 VAR_036769 p.Ser174Gly LB/B rs3888834 - NWD1 Q149M9 VAR_036770 p.Leu211Phe LB/B rs11668502 - NWD1 Q149M9 VAR_036771 p.Ala218Thr LB/B rs706764 - NWD1 Q149M9 VAR_036772 p.Gln900Glu LB/B rs773930 - NWD1 Q149M9 VAR_036773 p.Asn926Ile LB/B rs2608737 - NWD1 Q149M9 VAR_036774 p.His935Arg LB/B rs2608738 - NWD1 Q149M9 VAR_036775 p.Asp1541Val LB/B rs11671361 - NWD2 Q9ULI1 VAR_039304 p.Leu569Met LB/B rs4634233 - NXF3 Q9H4D5 VAR_050419 p.Asn186Ile LB/B rs2301387 - NXNL1 Q96CM4 VAR_083662 p.Asp18Asn LB/B rs773261846 - NXNL1 Q96CM4 VAR_083663 p.Glu64Lys US rs150719211 - NXNL1 Q96CM4 VAR_083664 p.Lys92Arg LB/B rs201992877 - NXNL1 Q96CM4 VAR_083665 p.Met94Ile LB/B rs145106863 - NXNL1 Q96CM4 VAR_083666 p.Gly112Trp LB/B - - NXNL1 Q96CM4 VAR_083667 p.Asn162Ser LB/B rs10408265 - NXNL1 Q96CM4 VAR_083668 p.Thr178Ile LB/B rs56084515 - NXNL2 Q5VZ03 VAR_025755 p.Ser76Cys LB/B rs17852066 - NXPE1 Q8N323 VAR_036712 p.Gly353Arg LB/B rs10891692 - NXPE1 Q8N323 VAR_036713 p.Ile423Thr LB/B rs34993124 - NXPE2 Q96DL1 VAR_034647 p.Val103Ala LB/B rs11215158 - NXPE3 Q969Y0 VAR_049024 p.Thr507Ile LB/B rs3796277 - NXPE4 Q6UWF7 VAR_049025 p.Tyr398His LB/B rs550897 - NXPE4 Q6UWF7 VAR_049026 p.Ala451Val LB/B rs10891705 - NYAP2 Q9P242 VAR_039933 p.Thr205Ala LB/B rs7422680 - NYAP2 Q9P242 VAR_039934 p.Thr586Pro LB/B rs3748993 - NYNRIN Q9P2P1 VAR_037857 p.Thr457Met LB/B rs12437434 - NYNRIN Q9P2P1 VAR_037858 p.Ala659Val LB/B rs8008203 - NYNRIN Q9P2P1 VAR_037859 p.Ala978Thr LB/B rs8017377 - NYNRIN Q9P2P1 VAR_037860 p.Glu997Lys LB/B rs3742518 - NYNRIN Q9P2P1 VAR_037861 p.Ile1551Val LB/B rs17103672 - NYX Q9GZU5 VAR_013867 p.Cys26Ser LP/P rs62637020 Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013868 p.Ala138Pro LP/P rs62637023 Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013869 p.Pro146Leu LP/P rs62637024 Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013870 p.Pro170Arg LP/P rs62637025 Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013871 p.Leu179Pro LP/P rs62637026 Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013872 p.Ala182Lys LP/P rs62637027 Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013873 p.Leu208Gln LP/P rs62637028 Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013874 p.Asn211Ser LP/P - Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013875 p.Leu227Pro LP/P rs62637030 Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013876 p.Asn259Lys LP/P rs62637032 Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013877 p.Leu280Pro LP/P rs62637033 Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013878 p.Phe293Ser LP/P rs62637034 Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013879 p.Leu302Pro LP/P - Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013880 p.Asn307Ser LP/P rs62637035 Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013881 p.Leu342Pro LP/P rs62637036 Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013882 p.Gly365Val LP/P rs62637038 Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_052020 p.Ala401Gly LB/B rs34169326 - OAF Q86UD1 VAR_032993 p.His210Arg LB/B rs2508489 - OAF Q86UD1 VAR_032994 p.Arg217His LB/B rs2508490 - OAS1 P00973 VAR_034872 p.Gly162Ser LB/B rs1131454 - OAS1 P00973 VAR_057658 p.Asp354Gly LB/B rs35919998 - OAS1 P00973 VAR_057659 p.Arg361Thr LB/B rs1051042 - OAS1 P00973 VAR_060471 p.Asn31Asp LB/B rs1050994 - OAS1 P00973 VAR_060472 p.Gly127Arg LB/B rs4767022 - OAS1 P00973 VAR_060473 p.Ala352Thr LB/B rs1131476 - OAS1 P00973 VAR_087200 p.Ala76Val LP/P - Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia (IMD100) [MIM:618042] OAS1 P00973 VAR_087201 p.Cys109Tyr LP/P - Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia (IMD100) [MIM:618042] OAS1 P00973 VAR_087202 p.Val121Gly LP/P - Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia (IMD100) [MIM:618042] OAS1 P00973 VAR_087203 p.Leu198Val LP/P - Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia (IMD100) [MIM:618042] OAS3 Q9Y6K5 VAR_057660 p.Arg65Trp LB/B rs12819767 - OAS3 Q9Y6K5 VAR_057661 p.Ser381Arg LB/B rs2285933 - OAS3 Q9Y6K5 VAR_057662 p.Arg869His LB/B rs16942374 - OAS3 Q9Y6K5 VAR_060076 p.Arg18Lys LB/B rs1859330 - OAS3 Q9Y6K5 VAR_060077 p.Arg18Met LB/B rs1859330 - OAS3 Q9Y6K5 VAR_060078 p.Arg18Thr LB/B rs1859330 - OAS3 Q9Y6K5 VAR_062127 p.Arg378Lys LB/B rs45519442 - OASL Q15646 VAR_053544 p.Asn341Ile LB/B rs35249920 - OAT P04181 VAR_000565 p.Asn54Lys LP/P rs121965048 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000566 p.Tyr55His LP/P rs121965037 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000567 p.Asn89Lys LP/P rs386833602 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000568 p.Cys93Phe LP/P rs121965038 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000569 p.Arg154Leu LP/P rs121965039 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000570 p.Arg180Thr LP/P rs121965040 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000572 p.Ala226Val LP/P rs121965059 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000573 p.Pro241Leu LP/P rs121965051 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000574 p.Tyr245Cys LP/P rs121965046 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000575 p.Arg250Pro LP/P rs121965052 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000576 p.Thr267Ile LP/P rs386833618 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000577 p.Ala270Pro LB/B rs121965041 - OAT P04181 VAR_000578 p.Arg271Lys LP/P rs121965042 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000579 p.His319Tyr LP/P rs121965049 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000580 p.Val332Met LP/P rs121965047 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000581 p.Gly353Asp LP/P rs121965053 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000582 p.Gly375Ala LP/P rs121965045 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000583 p.Cys394Arg LP/P rs121965054 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000584 p.Leu402Pro LP/P rs121965043 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000585 p.Pro417Leu LP/P rs121965044 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000586 p.Leu437Phe LP/P rs1800456 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_015648 p.Gln90Glu LP/P rs121965060 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_071924 p.Gly51Asp LP/P rs11553554 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_071925 p.Gln104Arg LP/P rs386833604 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_071926 p.Pro199Gln LP/P rs267606925 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_071927 p.Glu318Lys LP/P rs386833621 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_071928 p.Cys394Tyr LP/P rs386833597 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_071929 p.Ile436Asn LP/P rs386833598 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAZ1 P54368 VAR_022215 p.Arg32Leu LB/B rs4667 - OAZ1 P54368 VAR_022216 p.Gly44Asp LB/B rs28359762 - OAZ1 P54368 VAR_022217 p.Ser50Phe LB/B rs28384673 - OAZ1 P54368 VAR_022218 p.Ser53Phe LB/B rs2230749 - OAZ1 P54368 VAR_022219 p.Ala147Val LB/B rs28384677 - OAZ2 O95190 VAR_050420 p.Pro70Leu LB/B rs3751534 - OBP2A Q9NY56 VAR_034354 p.Asn61Lys LB/B rs3180357 - OBP2A Q9NY56 VAR_050176 p.Met159Thr LB/B rs2853652 - OBP2A Q9NY56 VAR_061359 p.Gly130Ala LB/B rs55695858 - OBP2A Q9NY56 VAR_061360 p.Pro133Ser LB/B rs3178137 - OBP2B Q9NPH6 VAR_050177 p.Val167Ile LB/B rs11244035 - OBSCN Q5VST9 VAR_026409 p.Ala51Thr LB/B rs1771487 - OBSCN Q5VST9 VAR_026410 p.Arg4534His LB/B rs4653942 - OBSCN Q5VST9 VAR_034618 p.Gln502Arg LB/B rs1771487 - OBSCN Q5VST9 VAR_034619 p.Val1508Asp LB/B rs7532342 - OBSCN Q5VST9 VAR_034620 p.Ala3300Thr LB/B rs437129 - OBSCN Q5VST9 VAR_034621 p.His4381Arg LB/B rs1150912 - OBSCN Q5VST9 VAR_034622 p.Cys4450Arg LB/B rs1188732 - OBSCN Q5VST9 VAR_035530 p.Ala1136Val US rs950055015 A colorectal cancer sample OBSCN Q5VST9 VAR_035531 p.Arg1792His US rs750681123 A colorectal cancer sample OBSCN Q5VST9 VAR_035532 p.Val1930Met US rs545316651 A colorectal cancer sample OBSCN Q5VST9 VAR_035533 p.Glu2090Lys US - A colorectal cancer sample OBSCN Q5VST9 VAR_035534 p.Ser2314Phe US - A breast cancer sample OBSCN Q5VST9 VAR_035535 p.Arg3983Gln US rs539154039 A colorectal cancer sample OBSCN Q5VST9 VAR_035536 p.Arg4558His US rs199865640 A colorectal cancer sample OBSCN Q5VST9 VAR_035537 p.Arg4810Gln US rs570805670 A breast cancer sample OBSCN Q5VST9 VAR_035538 p.Ala5071Thr US - A breast cancer sample OBSCN Q5VST9 VAR_042276 p.Gly804Ser LB/B rs55950009 - OBSCN Q5VST9 VAR_042277 p.Lys1027Arg LB/B rs55760713 - OBSCN Q5VST9 VAR_042278 p.Ala1086Ser LB/B rs117147433 - OBSCN Q5VST9 VAR_042279 p.Ala1090Thr LB/B rs752906025 - OBSCN Q5VST9 VAR_042280 p.Ser1091Thr LB/B rs965007403 - OBSCN Q5VST9 VAR_042281 p.Ala1101Pro LB/B rs780907202 - OBSCN Q5VST9 VAR_042282 p.Gly1121Arg LB/B - - OBSCN Q5VST9 VAR_042283 p.Leu1133Val LB/B rs777214598 - OBSCN Q5VST9 VAR_042284 p.His1156Gln LB/B - - OBSCN Q5VST9 VAR_042285 p.Gln1248His LB/B rs199523598 - OBSCN Q5VST9 VAR_042286 p.Ala1532Val LB/B rs453140 - OBSCN Q5VST9 VAR_042287 p.Thr1566Met LB/B rs56217040 - OBSCN Q5VST9 VAR_042288 p.Ala1601Thr LB/B rs55706639 - OBSCN Q5VST9 VAR_042289 p.Ala3389Val LB/B rs770177081 - OBSCN Q5VST9 VAR_042290 p.Asp3426Glu LB/B - - OBSCN Q5VST9 VAR_042291 p.Arg3834Gly LB/B - - OBSCN Q5VST9 VAR_042292 p.Ala4823Ser LB/B - - OBSCN Q5VST9 VAR_042293 p.Arg5598Gln LB/B rs867550675 - OBSCN Q5VST9 VAR_042294 p.Glu6473Gln LB/B - - OBSCN Q5VST9 VAR_047743 p.Ala908Thr LB/B rs1757153 - OBSCN Q5VST9 VAR_047744 p.Asp2106Glu LB/B rs1188721 - OBSCN Q5VST9 VAR_047745 p.Phe2116Leu LB/B rs1188722 - OBSCN Q5VST9 VAR_047746 p.Arg2529Gln LB/B rs3795783 - OBSCN Q5VST9 VAR_047747 p.Val2720Met LB/B rs1188697 - OBSCN Q5VST9 VAR_047748 p.Arg2812Trp LB/B rs3795785 - OBSCN Q5VST9 VAR_047749 p.Glu3372Asp LB/B rs3795789 - OBSCN Q5VST9 VAR_047750 p.Ser3373Cys LB/B rs3795790 - OBSCN Q5VST9 VAR_047751 p.Gly4039Arg LB/B rs435776 - OBSCN Q5VST9 VAR_056102 p.Ser4642Cys LB/B rs1188729 - OBSCN Q5VST9 VAR_056103 p.Arg4662Cys LB/B rs3795800 - OBSCN Q5VST9 VAR_056104 p.Gly4666Ser LB/B rs3795801 - OBSCN Q5VST9 VAR_056105 p.Asp4962Gly LB/B rs373610 - OBSCN Q5VST9 VAR_056106 p.Leu5269Val LB/B rs369909 - OBSCN Q5VST9 VAR_056107 p.Arg5575His LB/B rs3795809 - OBSCN Q5VST9 VAR_056108 p.Gln5891Glu LB/B rs1188710 - OBSCN Q5VST9 VAR_056109 p.Ala7172Val LB/B rs500049 - OBSCN Q5VST9 VAR_059429 p.Arg4516Trp LB/B rs11810627 - OBSCN Q5VST9 VAR_074295 p.Leu4492Arg LB/B rs369570923 - OCA2 Q04671 VAR_006117 p.Gly27Arg LP/P rs61738394 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006118 p.Ser86Arg LP/P rs772243109 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006119 p.Cys112Phe LP/P rs562649990 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006121 p.Ala257Asp LB/B rs1050968 - OCA2 Q04671 VAR_006123 p.Arg305Trp LB/B rs1800401 - OCA2 Q04671 VAR_006124 p.Ala368Val LP/P rs61745150 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006125 p.Phe385Ile LP/P rs137956605 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006126 p.Met395Leu LP/P rs757286784 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006127 p.Thr404Met LP/P rs144812594 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006128 p.Arg419Gln LB/B rs1800407 - OCA2 Q04671 VAR_006129 p.Arg419Trp LP/P rs143218168 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006131 p.Leu440His LB/B - - OCA2 Q04671 VAR_006132 p.Val443Ile LP/P rs121918166 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006133 p.Met446Val LP/P rs140566426 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006134 p.Ile473Ser LP/P - Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006135 p.Asn489Asp LP/P rs121918170 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006136 p.His549Gln LP/P - Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006137 p.Thr592Ile LP/P rs1800413 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006138 p.Lys614Asn LP/P - Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006139 p.His615Arg LB/B rs1800414 - OCA2 Q04671 VAR_006140 p.Trp652Arg LP/P rs886043514 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006141 p.Trp679Arg LP/P rs751822606 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006142 p.Ile722Thr LB/B rs1800417 - OCA2 Q04671 VAR_006143 p.Ala724Pro LP/P - Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006144 p.Ser736Leu LP/P rs780296175 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006145 p.Pro743Leu LP/P rs121918167 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006146 p.Ala787Val LP/P rs200457227 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_007939 p.Leu440Phe LB/B rs1800408 - OCA2 Q04671 VAR_007940 p.Ala481Thr LP/P rs74653330 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020622 p.Arg10Trp LP/P rs554862186 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020623 p.Pro198Leu LP/P rs183487020 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020624 p.Pro211Leu LP/P rs190612616 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020625 p.Arg290Gly LP/P rs769408559 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020626 p.Ala334Val LP/P rs121918168 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020627 p.Val350Met LB/B rs533478642 - OCA2 Q04671 VAR_020628 p.Ile370Thr LB/B rs34731820 - OCA2 Q04671 VAR_020629 p.Thr387Met LB/B rs150335311 - OCA2 Q04671 VAR_020630 p.Met394Ile LP/P rs121918171 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020631 p.Lys614Glu LP/P - Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020632 p.Ile617Leu LP/P rs763016773 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020633 p.Glu678Lys US - - OCA2 Q04671 VAR_020634 p.Trp679Cys LP/P rs121918169 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020635 p.Leu688Phe US - - OCA2 Q04671 VAR_020636 p.Arg720Cys LP/P rs141545475 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020637 p.Gly795Arg LP/P - Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020638 p.Gln799His LP/P - Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_022019 p.Pro241Arg LB/B rs2305253 - OCA2 Q04671 VAR_032094 p.Arg266Trp LB/B rs33929465 - OCA2 Q04671 VAR_032095 p.Ala336Val LB/B rs34010619 - OCA2 Q04671 VAR_032096 p.Val519Ala LB/B rs41446944 - OCA2 Q04671 VAR_032097 p.Arg560His LB/B rs35110389 - OCA2 Q04671 VAR_036468 p.Ala773Thr US rs1184589806 A breast cancer sample OCA2 Q04671 VAR_043700 p.Asn476Asp LP/P - Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_043701 p.Gly775Arg LP/P - Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_043702 p.Tyr827His LP/P rs1255943449 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_072600 p.Val633Ile LP/P rs1372200062 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_072601 p.Phe684Cys LP/P rs772754008 Albinism, oculocutaneous, 2 (OCA2) [MIM:203200] OCEL1 Q9H607 VAR_034356 p.Arg42Leu LB/B rs10425488 - OCEL1 Q9H607 VAR_034357 p.Ala109Gly LB/B rs891203 - OCIAD2 Q56VL3 VAR_053950 p.Arg44Gln LB/B rs7676916 - OCLN Q16625 VAR_064910 p.Phe219Ser LP/P rs267606926 Pseudo-TORCH syndrome 1 (PTORCH1) [MIM:251290] OCRL Q01968 VAR_010169 p.Arg337Pro LP/P - Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010170 p.Gly357Glu US rs137853854 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010172 p.Val372Gly LP/P rs137853834 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010173 p.His375Tyr LP/P rs137853848 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010174 p.Gly421Glu LP/P rs137853855 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010175 p.Asn424Asp LP/P rs137853856 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010176 p.Asp451Gly LP/P rs137853850 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010177 p.Phe463Ser LP/P rs137853851 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010178 p.Cys498Tyr LP/P rs137853857 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010179 p.Arg500Gly LP/P rs398123287 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010180 p.Arg500Gln LP/P rs137853260 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010181 p.Val508Asp LP/P rs137853849 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010182 p.Tyr513Cys LP/P rs137853847 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010183 p.Ser522Arg LP/P rs137853853 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010184 p.His524Gln LP/P rs137853261 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010185 p.His524Arg LP/P rs137853852 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010187 p.Ile533Ser LP/P - Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010188 p.Ile768Asn US - Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010189 p.Ala797Pro US rs935956958 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_022698 p.Arg318Cys LP/P rs137853263 Dent disease 2 (DENT2) [MIM:300555] OCRL Q01968 VAR_022698 p.Arg318Cys LP/P rs137853263 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_022699 p.Tyr479Cys LP/P rs137853262 Dent disease 2 (DENT2) [MIM:300555] OCRL Q01968 VAR_023958 p.Pro526Leu LP/P rs137853858 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064773 p.Phe242Ser LP/P rs137853828 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064774 p.Ile274Thr LP/P rs137853829 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064775 p.Gln277Arg LP/P rs137853830 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064776 p.Arg337Cys LP/P rs137853831 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064777 p.Asn354His LP/P rs137853833 Dent disease 2 (DENT2) [MIM:300555] OCRL Q01968 VAR_064778 p.Arg361Ile LP/P rs137853832 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064779 p.Asn373Tyr LP/P rs137853835 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064780 p.Ser374Phe LP/P rs137853836 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064781 p.His414Arg LP/P rs137853837 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064782 p.Asp451Asn LP/P rs137853838 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064783 p.Arg457Gly LP/P rs137853839 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064784 p.Glu468Gly LP/P rs137853841 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064785 p.Glu468Lys LP/P rs137853840 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064786 p.Arg493Trp LP/P rs137853846 Dent disease 2 (DENT2) [MIM:300555] OCRL Q01968 VAR_064787 p.Pro495Leu LP/P - Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064788 p.Asp499His LP/P rs137853842 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064789 p.Trp503Arg LP/P rs137853843 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064790 p.Asn591Lys LP/P rs137853844 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064792 p.Pro799Leu LP/P - Dent disease 2 (DENT2) [MIM:300555] OCRL Q01968 VAR_064793 p.Pro801Leu LP/P - Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064794 p.Leu891Arg LP/P rs137853845 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCSTAMP Q9BR26 VAR_050919 p.Pro565Ser LB/B rs847079 - ODAD1 Q96M63 VAR_032501 p.Arg329His LB/B rs35361179 - ODAD1 Q96M63 VAR_032502 p.Pro468Leu LB/B rs35461177 - ODAD1 Q96M63 VAR_086948 p.Ala248Thr LP/P rs147718607 Ciliary dyskinesia, primary, 20 (CILD20) [MIM:615067] ODAD2 Q5T2S8 VAR_033514 p.Asn935Lys LB/B rs35181927 - ODAD2 Q5T2S8 VAR_050672 p.Ile343Thr LB/B rs4405206 - ODAD2 Q5T2S8 VAR_050673 p.Ala1041Ser LB/B rs3737184 - ODAD2 Q5T2S8 VAR_070228 p.Leu927Trp LP/P rs587777047 Ciliary dyskinesia, primary, 23 (CILD23) [MIM:615451] ODAD3 A5D8V7 VAR_050743 p.Arg545Pro LB/B rs34619515 - ODAD4 Q96NG3 VAR_031758 p.Pro4Ser LB/B rs34516580 - ODAD4 Q96NG3 VAR_031759 p.Ala18Gly LB/B rs35516909 - ODAM A1E959 VAR_039812 p.Ile222Thr LB/B rs3196714 - ODAM A1E959 VAR_039813 p.Glu269Asp US - A colorectal cancer sample ODAPH Q17RF5 VAR_034915 p.Pro30Leu LB/B rs2306175 - ODAPH Q17RF5 VAR_034916 p.Arg109His LB/B rs2306174 - ODF1 Q14990 VAR_031684 p.Ser216Asn LB/B rs2916569 - ODF1 Q14990 VAR_051251 p.Phe243Leu LB/B rs11995900 - ODF2 Q5BJF6 VAR_034821 p.Thr710Ser LB/B rs16930426 - ODF2L Q9ULJ1 VAR_036882 p.Arg177His LB/B rs12032435 - ODF2L Q9ULJ1 VAR_036883 p.Lys350Arg LB/B rs17854440 - ODF4 Q2M2E3 VAR_035060 p.Trp34Arg LB/B rs12943505 - ODF4 Q2M2E3 VAR_035061 p.Val98Met LB/B rs12601097 - ODF4 Q2M2E3 VAR_035062 p.Tyr139Cys LB/B rs12936935 - ODR4 Q5SWX8 VAR_035059 p.Ser251Cys LB/B rs12084264 - OFCC1 Q8IZS5 VAR_043621 p.Ser21Leu LB/B rs9477310 - OFCC1 Q8IZS5 VAR_043622 p.Arg123Gln LB/B rs9383206 - OFCC1 Q8IZS5 VAR_043623 p.Thr145Ile LB/B rs9477211 - OFD1 O75665 VAR_013754 p.Ser435Arg LP/P rs122460150 Orofaciodigital syndrome 1 (OFD1) [MIM:311200] OFD1 O75665 VAR_015574 p.Ser74Phe LP/P rs312262812 Orofaciodigital syndrome 1 (OFD1) [MIM:311200] OFD1 O75665 VAR_030789 p.Ala79Thr LP/P rs312262814 Orofaciodigital syndrome 1 (OFD1) [MIM:311200] OFD1 O75665 VAR_058758 p.Gly138Ser LP/P rs312262827 Orofaciodigital syndrome 1 (OFD1) [MIM:311200] OFD1 O75665 VAR_069100 p.Met141Arg LP/P rs886039860 Orofaciodigital syndrome 1 (OFD1) [MIM:311200] OFD1 O75665 VAR_075701 p.Val307Asp US - Joubert syndrome 10 (JBTS10) [MIM:300804] OGA O60502 VAR_027761 p.Gly46Glu LB/B rs3740421 - OGA O60502 VAR_027762 p.Glu602Lys LB/B rs17853930 - OGDH Q02218 VAR_050435 p.Val1018Ile LB/B rs2070607 - OGDHL Q9ULD0 VAR_037125 p.Pro511Leu LB/B rs17856755 - OGDHL Q9ULD0 VAR_037126 p.Asp573Asn LB/B rs17852386 - OGDHL Q9ULD0 VAR_037127 p.Ser623Cys LB/B rs34877195 - OGDHL Q9ULD0 VAR_037128 p.Thr637Met LB/B rs11101224 - OGDHL Q9ULD0 VAR_037129 p.Asn725Ser LB/B rs2293239 - OGDHL Q9ULD0 VAR_086797 p.Trp220Cys LB/B rs138462834 - OGDHL Q9ULD0 VAR_086798 p.Arg244Trp US rs772819905 Yoon-Bellen neurodevelopmental syndrome (YOBELN) [MIM:619701] OGDHL Q9ULD0 VAR_086799 p.Arg299Gly US - Yoon-Bellen neurodevelopmental syndrome (YOBELN) [MIM:619701] OGDHL Q9ULD0 VAR_086800 p.Ala327Val US rs775987454 Yoon-Bellen neurodevelopmental syndrome (YOBELN) [MIM:619701] OGDHL Q9ULD0 VAR_086802 p.Asp491Val US rs1190641938 Yoon-Bellen neurodevelopmental syndrome (YOBELN) [MIM:619701] OGDHL Q9ULD0 VAR_086803 p.Arg673Gln US rs1462948301 Yoon-Bellen neurodevelopmental syndrome (YOBELN) [MIM:619701] OGDHL Q9ULD0 VAR_086804 p.Phe734Ser LB/B rs143105288 - OGDHL Q9ULD0 VAR_086805 p.Ser778Leu US rs773888308 Yoon-Bellen neurodevelopmental syndrome (YOBELN) [MIM:619701] OGDHL Q9ULD0 VAR_086806 p.Pro852Ala US - Yoon-Bellen neurodevelopmental syndrome (YOBELN) [MIM:619701] OGFOD1 Q8N543 VAR_032545 p.Pro173Ser LB/B rs34883368 - OGFOD3 Q6PK18 VAR_039948 p.Asp67Glu LB/B rs8072110 - OGFOD3 Q6PK18 VAR_039949 p.Pro272Arg LB/B rs17852152 - OGFR Q9NZT2 VAR_030011 p.Ser577Thr LB/B rs6122315 - OGFR Q9NZT2 VAR_059706 p.Arg545Ser LB/B rs6122313 - OGFRL1 Q5TC84 VAR_037842 p.Ser47Pro LB/B rs112585190 - OGG1 O15527 VAR_009519 p.Arg46Gln LB/B rs104893751 - OGG1 O15527 VAR_009520 p.Arg154His LB/B rs56053615 - OGG1 O15527 VAR_009521 p.Ser326Cys LB/B rs1052133 - OGG1 O15527 VAR_014487 p.Arg229Gln LB/B rs1805373 - OGG1 O15527 VAR_014488 p.Ser320Thr LB/B rs1801128 - OGG1 O15527 VAR_018890 p.Ala288Val LB/B rs3219012 - OGG1 O15527 VAR_018891 p.Asp322Asn LB/B rs3219014 - OGG1 O15527 VAR_024831 p.Gly12Glu LB/B rs772520254 - OGG1 O15527 VAR_024832 p.Ala85Ser LB/B rs17050550 - OGG1 O15527 VAR_024833 p.Arg131Gln LB/B rs747638147 - OGG1 O15527 VAR_024834 p.Ser232Thr US - - OGT O15294 VAR_064736 p.Leu538Pro US - - OGT O15294 VAR_074019 p.Ala319Thr US rs1602147851 Intellectual developmental disorder, X-linked 106 (XLID106) [MIM:300997] OGT O15294 VAR_079183 p.Arg284Pro LP/P rs1114167891 Intellectual developmental disorder, X-linked 106 (XLID106) [MIM:300997] OGT O15294 VAR_079254 p.Leu254Phe LP/P rs1131692155 Intellectual developmental disorder, X-linked 106 (XLID106) [MIM:300997] OIT3 Q8WWZ8 VAR_034742 p.Ser237Pro LB/B rs35089256 - OLA1 Q9NTK5 VAR_036613 p.Glu168Gln US - A breast cancer sample OLFM2 O95897 VAR_022550 p.Arg106Gln LB/B rs2303100 - OLFM2 O95897 VAR_036532 p.Thr86Met US rs1298178636 A colorectal cancer sample OLFM2 O95897 VAR_050423 p.Thr127Met LB/B rs11556087 - OLFM4 Q6UX06 VAR_037246 p.Ser36Pro LB/B rs35790097 - OLFML1 Q6UWY5 VAR_034362 p.Glu113Val LB/B rs12805648 - OLFML1 Q6UWY5 VAR_034363 p.Ala259Thr LB/B rs12803046 - OLFML2A Q68BL7 VAR_037250 p.Thr309Ala LB/B rs7874348 - OLFML2A Q68BL7 VAR_037251 p.Arg425Gln LB/B rs16927649 - OLFML2B Q68BL8 VAR_037248 p.Tyr10Cys LB/B rs12130792 - OLFML2B Q68BL8 VAR_037249 p.Trp470Arg LB/B rs2499836 - OLR1 P78380 VAR_023200 p.Lys167Asn LB/B rs11053646 - OMA1 Q96E52 VAR_034958 p.Asn67Lys LB/B rs34466938 - OMA1 Q96E52 VAR_034959 p.Pro117Leu LB/B rs17117720 - OMA1 Q96E52 VAR_034960 p.Phe211Cys LB/B rs17117699 - OMA1 Q96E52 VAR_034961 p.Ile329Leu LB/B rs17117678 - OMA1 Q96E52 VAR_035708 p.Leu226Val US - A colorectal cancer sample OMA1 Q96E52 VAR_065755 p.His69Tyr LB/B rs75220198 - OMA1 Q96E52 VAR_065756 p.Glu272Gly LB/B rs139938730 - OMA1 Q96E52 VAR_065757 p.Asp365Tyr LB/B rs77980955 - OMD Q99983 VAR_052014 p.Asp200Gly LB/B rs34069871 - OMD Q99983 VAR_052015 p.Glu212Gly LB/B rs34413259 - OMD Q99983 VAR_052016 p.Ser221Asn LB/B rs34860658 - OMD Q99983 VAR_052017 p.Ile282Thr LB/B rs35779901 - OMD Q99983 VAR_052018 p.Cys353Trp LB/B rs34059114 - OMG P23515 VAR_051252 p.Gly21Asp LB/B rs11080149 - OMG P23515 VAR_051253 p.Val435Ala LB/B rs16972169 - OMP P47874 VAR_051254 p.Arg26Trp LB/B rs2233546 - OMP P47874 VAR_051255 p.Gly36Arg LB/B rs2233548 - ONECUT1 Q9UBC0 VAR_010729 p.Pro75Ala LB/B rs74805019 - OOEP A6NGQ2 VAR_042523 p.Ala18Thr LB/B rs2280286 - OOEP A6NGQ2 VAR_042524 p.Val92Ala LB/B rs496530 - OOEP A6NGQ2 VAR_088459 p.Arg37Gly US - - OOEP A6NGQ2 VAR_088460 p.Arg37Pro US - - OPA1 O60313 VAR_011483 p.Arg290Gln LP/P rs121908375 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_011484 p.Gly300Glu LP/P rs28939082 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_015741 p.Arg445His LP/P rs80356529 Dominant optic atrophy plus syndrome (DOA+) [MIM:125250] OPA1 O60313 VAR_015741 p.Arg445His LP/P rs80356529 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_022924 p.Ser158Asn LB/B rs7624750 - OPA1 O60313 VAR_022925 p.Pro167Leu LB/B rs754177232 - OPA1 O60313 VAR_022926 p.Ala192Val LB/B rs34307082 - OPA1 O60313 VAR_022927 p.Leu396Arg LP/P rs727504060 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_022928 p.Thr503Lys LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_022929 p.Arg571His LP/P rs140606054 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_026533 p.Ser545Arg LP/P rs398124298 Dominant optic atrophy plus syndrome (DOA+) [MIM:125250] OPA1 O60313 VAR_026533 p.Ser545Arg LP/P rs398124298 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_028370 p.Leu939Pro LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060825 p.Ala8Ser US rs794726939 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060826 p.Tyr80Cys LP/P rs151103940 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060827 p.Thr95Met LP/P rs201214736 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060828 p.Tyr102Cys LP/P rs530896300 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060829 p.Glu270Lys LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060830 p.Leu272Pro LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060831 p.Asp273Ala LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060832 p.Arg290Trp LP/P rs780333963 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060834 p.Gln310Arg LP/P rs770966290 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060836 p.Ala357Thr LP/P rs190223702 Dominant optic atrophy plus syndrome (DOA+) [MIM:125250] OPA1 O60313 VAR_060836 p.Ala357Thr LP/P rs190223702 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060837 p.Ile382Met LP/P rs143319805 Behr syndrome (BEHRS) [MIM:210000] OPA1 O60313 VAR_060837 p.Ile382Met LP/P rs143319805 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060838 p.Leu384Phe LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060839 p.Leu396Pro LP/P rs727504060 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060841 p.Asn430Asp LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060842 p.Asp438Val LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060843 p.Thr449Arg LP/P rs1577244261 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060845 p.Lys468Glu LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060846 p.Asp470Gly LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060847 p.Glu487Lys LP/P - Behr syndrome (BEHRS) [MIM:210000] OPA1 O60313 VAR_060847 p.Glu487Lys LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060848 p.Lys505Asn LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060849 p.Asp550Asn LB/B - - OPA1 O60313 VAR_060851 p.Cys551Tyr LP/P rs879255592 Dominant optic atrophy plus syndrome (DOA+) [MIM:125250] OPA1 O60313 VAR_060851 p.Cys551Tyr LP/P rs879255592 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060852 p.Leu574Pro LP/P rs1711513392 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060853 p.Tyr582Cys LP/P rs121908376 Dominant optic atrophy plus syndrome (DOA+) [MIM:125250] OPA1 O60313 VAR_060854 p.Arg590Gln LP/P rs147077380 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060855 p.Arg590Trp LP/P rs778998909 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060856 p.Leu593Pro LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060857 p.Ser646Leu LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060859 p.Asn728Lys LP/P rs1292852465 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060860 p.Gly768Asp LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060861 p.Arg781Trp LP/P rs190235251 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060862 p.Gln785Arg LP/P rs1064797302 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060863 p.Ser823Tyr LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060864 p.Tyr841Cys LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060865 p.Arg882Leu LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060866 p.Leu887Pro LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060867 p.Glu907Gly LB/B rs863224138 - OPA1 O60313 VAR_060868 p.Arg932Cys LP/P rs145710079 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060869 p.Leu949Pro LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_067355 p.Pro400Ala LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_072125 p.Thr330Ser LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_072126 p.Val377Ile LP/P rs780922750 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_072127 p.Gly439Val LP/P rs387906900 Dominant optic atrophy plus syndrome (DOA+) [MIM:125250] OPA1 O60313 VAR_072127 p.Gly439Val LP/P rs387906900 Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_072128 p.Thr449Pro LP/P - Dominant optic atrophy plus syndrome (DOA+) [MIM:125250] OPA1 O60313 VAR_072129 p.Gly459Glu LP/P - Optic atrophy 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_072130 p.Val502Gly LB/B - - OPA1 O60313 VAR_072132 p.Val910Asp LP/P rs387906901 Dominant optic atrophy plus syndrome (DOA+) [MIM:125250] OPA1 O60313 VAR_075903 p.Val402Met LP/P rs879255594 Behr syndrome (BEHRS) [MIM:210000] OPA1 O60313 VAR_075904 p.Leu534Arg LP/P rs869312995 Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type (MTDPS14) [MIM:616896] OPA3 Q9H6K4 VAR_033103 p.Gly93Ser LP/P rs80356524 Optic atrophy 3 (OPA3) [MIM:165300] OPA3 Q9H6K4 VAR_033104 p.Gln105Glu LP/P rs80356525 Optic atrophy 3 (OPA3) [MIM:165300] OPA3 Q9H6K4 VAR_085736 p.Gly15Arg US rs771522612 - OPCML Q14982 VAR_055421 p.Pro95Arg LP/P rs137852691 Ovarian cancer (OC) [MIM:167000] OPHN1 O60890 VAR_013638 p.Ala45Thr LB/B rs148262378 - OPHN1 O60890 VAR_013639 p.Thr301Met LB/B rs138108344 - OPHN1 O60890 VAR_033452 p.Met693Ile LB/B rs36095561 - OPHN1 O60890 VAR_061184 p.Val39Ile LB/B rs41303733 - OPLAH O14841 VAR_050425 p.Ser284Arg LB/B rs3935209 - OPLAH O14841 VAR_088518 p.Ser323Arg US - 5-oxoprolinase deficiency (OPLAHD) [MIM:260005] OPLAH O14841 VAR_088519 p.Val1089Ile LP/P - 5-oxoprolinase deficiency (OPLAHD) [MIM:260005] OPN1LW P04000 VAR_004842 p.Ala180Ser LB/B rs1557157655 - OPN1LW P04000 VAR_009298 p.Cys203Arg LP/P rs121434621 Blue cone monochromacy (BCM) [MIM:303700] OPN1LW P04000 VAR_009299 p.Pro307Leu LP/P rs782797093 Blue cone monochromacy (BCM) [MIM:303700] OPN1LW P04000 VAR_012010 p.Ile111Val LB/B rs1065421 - OPN1LW P04000 VAR_012011 p.Ser116Tyr LB/B rs1065422 - OPN1LW P04000 VAR_012012 p.Met153Leu LB/B rs713 - OPN1LW P04000 VAR_012014 p.Ile230Thr LB/B rs148583295 - OPN1LW P04000 VAR_012015 p.Ala298Pro LB/B rs1065440 - OPN1LW P04000 VAR_050612 p.Ile274Val LB/B rs2315122 - OPN1LW P04000 VAR_064054 p.Gly338Glu LP/P rs104894913 Colorblindness, partial, protan series (CBP) [MIM:303900] OPN1MW P04001 VAR_004841 p.Cys203Arg LP/P rs104894914 Blue cone monochromacy (BCM) [MIM:303700] OPN1MW P04001 VAR_004841 p.Cys203Arg LP/P rs104894914 Colorblindness, partial, deutan series (CBD) [MIM:303800] OPN1MW P04001 VAR_064051 p.Asn94Lys LP/P rs104894915 Colorblindness, partial, deutan series (CBD) [MIM:303800] OPN1MW P04001 VAR_064052 p.Trp177Arg LP/P rs267606927 Cone dystrophy 5 (COD5) [MIM:303700] OPN1MW P04001 VAR_064053 p.Arg330Gln LP/P rs104894916 Colorblindness, partial, deutan series (CBD) [MIM:303800] OPN1SW P03999 VAR_004838 p.Gly76Arg LP/P rs104894031 Tritan color blindness (CBT) [MIM:190900] OPN1SW P03999 VAR_004839 p.Ser211Pro LP/P rs104894032 Tritan color blindness (CBT) [MIM:190900] OPN1SW P03999 VAR_004840 p.Pro261Ser LP/P rs104894033 Tritan color blindness (CBT) [MIM:190900] OPN1SW P03999 VAR_081835 p.Thr187Ile LP/P rs1190183515 Tritan color blindness (CBT) [MIM:190900] OPN3 Q9H1Y3 VAR_050613 p.Ala167Val LB/B rs12072790 - OPN3 Q9H1Y3 VAR_050614 p.Val183Ile LB/B rs2273712 - OPN4 Q9UHM6 VAR_020430 p.Thr394Ile LB/B rs1079610 - OPN4 Q9UHM6 VAR_029774 p.Pro10Leu LB/B rs2675703 - OPN4 Q9UHM6 VAR_029775 p.Gly444Asp LB/B rs12262894 - OPRD1 P41143 VAR_012083 p.Cys27Phe LB/B rs1042114 - OPRK1 P41145 VAR_028067 p.Asp374Asn LB/B rs9282808 - OPRM1 P35372 VAR_009524 p.Asn40Asp LB/B rs1799971 - OPRM1 P35372 VAR_009525 p.Ala6Val LB/B rs1799972 - OPRM1 P35372 VAR_009526 p.Ser147Cys LB/B rs17174794 - OPRM1 P35372 VAR_009527 p.Arg260His LB/B rs1799974 - OPRM1 P35372 VAR_019252 p.Asn152Asp LB/B rs17174801 - OPRM1 P35372 VAR_019253 p.Arg265Cys LB/B rs17174822 - OPRM1 P35372 VAR_019254 p.Asp274Asn LB/B rs17174829 - OPRM1 P35372 VAR_049426 p.Gly63Val LB/B rs9282817 - OPRM1 P35372 VAR_049427 p.Ser66Phe LB/B rs9282819 - OPTC Q9UBM4 VAR_055228 p.Ile182Thr LB/B rs139024490 - OPTC Q9UBM4 VAR_055229 p.Arg229Cys LB/B rs150633473 - OPTC Q9UBM4 VAR_055230 p.Arg325Trp LB/B rs56219555 - OPTN Q96CV9 VAR_021537 p.His26Asp LP/P rs200710076 Glaucoma 1, open angle, E (GLC1E) [MIM:137760] OPTN Q96CV9 VAR_021538 p.Glu50Lys LP/P rs28939688 Glaucoma 1, open angle, E (GLC1E) [MIM:137760] OPTN Q96CV9 VAR_021539 p.Met98Lys LB/B rs11258194 - OPTN Q96CV9 VAR_021540 p.Glu103Asp LP/P rs1346865805 Glaucoma 1, open angle, E (GLC1E) [MIM:137760] OPTN Q96CV9 VAR_021541 p.Pro201Ser LB/B - - OPTN Q96CV9 VAR_021542 p.Lys213His US - - OPTN Q96CV9 VAR_021543 p.Ser216Arg LB/B rs750088207 - OPTN Q96CV9 VAR_021544 p.Glu322Lys LB/B rs523747 - OPTN Q96CV9 VAR_021545 p.Thr357Pro LB/B - - OPTN Q96CV9 VAR_021546 p.His486Arg LP/P rs373425395 Glaucoma 1, open angle, E (GLC1E) [MIM:137760] OPTN Q96CV9 VAR_021547 p.Arg545Gln US rs75654767 Glaucoma 1, open angle, E (GLC1E) [MIM:137760] OPTN Q96CV9 VAR_030769 p.Ser308Pro LB/B rs7068431 - OPTN Q96CV9 VAR_063597 p.Glu478Gly LP/P rs267606929 Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (ALS12) [MIM:613435] OPTN Q96CV9 VAR_078108 p.Val295Phe LP/P rs761558354 Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (ALS12) [MIM:613435] OR10A2 Q9H208 VAR_034277 p.His207Arg LB/B rs10839631 - OR10A2 Q9H208 VAR_034278 p.Ile240Thr LB/B rs10839632 - OR10A2 Q9H208 VAR_034279 p.Lys258Thr LB/B rs7926083 - OR10A2 Q9H208 VAR_053261 p.Ala134Thr LB/B rs2741764 - OR10A2 Q9H208 VAR_060022 p.His43Arg LB/B rs3930075 - OR10A3 P58181 VAR_053262 p.Phe20Val LB/B rs16934214 - OR10A4 Q9H209 VAR_024124 p.Arg262Gln LB/B rs10839635 - OR10A4 Q9H209 VAR_034280 p.Arg221His LB/B rs7938371 - OR10A4 Q9H209 VAR_034281 p.Leu246Phe LB/B rs16919049 - OR10A4 Q9H209 VAR_060023 p.Leu206Pro LB/B rs2595453 - OR10A5 Q9H207 VAR_034282 p.Lys41Met LB/B rs7949377 - OR10A6 Q8NH74 VAR_053263 p.Ala117Val LB/B rs7928451 - OR10A6 Q8NH74 VAR_053264 p.Val140Gly LB/B rs7933807 - OR10A6 Q8NH74 VAR_053265 p.Leu287Pro LB/B rs4758258 - OR10A7 Q8NGE5 VAR_053266 p.Gly96Ser LB/B rs12578318 - OR10AD1 Q8NGE0 VAR_024125 p.Tyr279His LB/B rs11168459 - OR10AD1 Q8NGE0 VAR_053267 p.Val8Ala LB/B rs17122812 - OR10AD1 Q8NGE0 VAR_053268 p.Arg166Gln LB/B rs17224674 - OR10AD1 Q8NGE0 VAR_053269 p.Phe275Val LB/B rs11830378 - OR10C1 Q96KK4 VAR_037822 p.Pro57Ser LB/B rs17184016 - OR10C1 Q96KK4 VAR_037823 p.Phe60Leu LB/B rs2074469 - OR10C1 Q96KK4 VAR_037824 p.Arg89Ser LB/B rs11755182 - OR10C1 Q96KK4 VAR_037825 p.Met100Val LB/B rs17177632 - OR10C1 Q96KK4 VAR_037826 p.Arg121Cys LB/B rs17177639 - OR10C1 Q96KK4 VAR_037827 p.Arg138Trp LB/B rs17177646 - OR10C1 Q96KK4 VAR_037828 p.Pro160Ser LB/B rs2074468 - OR10C1 Q96KK4 VAR_037829 p.Phe161Leu LB/B rs2074467 - OR10C1 Q96KK4 VAR_037830 p.Pro174Gln LB/B rs2074466 - OR10C1 Q96KK4 VAR_037831 p.Met246Val LB/B rs2074464 - OR10C1 Q96KK4 VAR_037832 p.Leu255Ile LB/B rs17177674 - OR10C1 Q96KK4 VAR_037833 p.Met310Arg LB/B rs11968123 - OR10G2 Q8NGC3 VAR_053270 p.Leu67Phe LB/B rs10146821 - OR10G2 Q8NGC3 VAR_053271 p.Leu85Arg LB/B rs41314525 - OR10G2 Q8NGC3 VAR_053272 p.Pro187Arg LB/B rs35963889 - OR10G2 Q8NGC3 VAR_053273 p.Gly209Arg LB/B rs12894405 - OR10G2 Q8NGC3 VAR_085741 p.Arg136His LB/B rs10138694 - OR10G2 Q8NGC3 VAR_085742 p.Asn228His LB/B rs200792644 - OR10G2 Q8NGC3 VAR_085743 p.Thr236Ala LB/B rs41307110 - OR10G3 Q8NGC4 VAR_053274 p.Ser73Gly LB/B rs17792778 - OR10G4 Q8NGN3 VAR_034283 p.Val195Glu LB/B rs4084209 - OR10G4 Q8NGN3 VAR_034284 p.Arg235Gly LB/B rs4936880 - OR10G4 Q8NGN3 VAR_053275 p.Leu24Pro LB/B rs547068 - OR10G4 Q8NGN3 VAR_053276 p.Met134Val LB/B rs1893766 - OR10G4 Q8NGN3 VAR_053277 p.Pro181Ser LB/B rs1893764 - OR10G4 Q8NGN3 VAR_053278 p.Arg226Gln LB/B rs11219408 - OR10G4 Q8NGN3 VAR_053279 p.Lys295Gln LB/B rs4936881 - OR10G4 Q8NGN3 VAR_060025 p.Tyr101Cys LB/B rs4474449 - OR10G4 Q8NGN3 VAR_060026 p.Gly146Cys LB/B rs503223 - OR10G4 Q8NGN3 VAR_060027 p.Gly146Arg LB/B rs503223 - OR10G4 Q8NGN3 VAR_060028 p.Gly146Ser LB/B rs503223 - OR10G7 Q8NGN6 VAR_024126 p.Thr5Ser LB/B rs3894197 - OR10G7 Q8NGN6 VAR_034285 p.Thr136Ser LB/B rs513591 - OR10G7 Q8NGN6 VAR_048060 p.Thr13Met LB/B rs11827843 - OR10G7 Q8NGN6 VAR_048061 p.Ala18Val LB/B rs3894198 - OR10G7 Q8NGN6 VAR_048062 p.Gly20Ala LB/B rs3894199 - OR10G7 Q8NGN6 VAR_048063 p.Ile28Val LB/B rs11219420 - OR10G7 Q8NGN6 VAR_048064 p.Thr90Ala LB/B rs470208 - OR10G9 Q8NGN4 VAR_034286 p.Ser136Thr LB/B rs17128190 - OR10G9 Q8NGN4 VAR_034287 p.Gln172Arg LB/B rs11219413 - OR10G9 Q8NGN4 VAR_053280 p.Met134Val LB/B rs12366219 - OR10G9 Q8NGN4 VAR_060029 p.His228Arg LB/B rs12221656 - OR10H1 Q9Y4A9 VAR_024127 p.Gly16Arg LB/B rs4808383 - OR10H1 Q9Y4A9 VAR_054124 p.Ala65Val LB/B rs4808382 - OR10H1 Q9Y4A9 VAR_054125 p.His175Gln LB/B rs1859298 - OR10H2 O60403 VAR_022049 p.Ser171Phe LB/B rs1806931 - OR10H2 O60403 VAR_062062 p.Leu40Gln LB/B rs4569397 - OR10H2 O60403 VAR_077833 p.Arg131His US rs756001079 - OR10H3 O60404 VAR_020381 p.Val224Met LB/B rs2240228 - OR10H3 O60404 VAR_020382 p.Ser293Asn LB/B rs2240229 - OR10H3 O60404 VAR_024128 p.Arg7Ser LB/B rs1966357 - OR10H3 O60404 VAR_034288 p.Leu14Ile LB/B rs2240227 - OR10H3 O60404 VAR_034289 p.Arg54His LB/B rs11670007 - OR10H4 Q8NGA5 VAR_034290 p.Asn100Lys LB/B rs16980994 - OR10H4 Q8NGA5 VAR_034291 p.His144Arg LB/B rs16980822 - OR10H4 Q8NGA5 VAR_062063 p.Thr281Ala LB/B rs11880184 - OR10J1 P30954 VAR_034292 p.Met62Ile LB/B rs10908722 - OR10J1 P30954 VAR_034293 p.Met112Ile LB/B rs12118628 - OR10J1 P30954 VAR_053281 p.Ile103Met LB/B rs12048482 - OR10J3 Q5JRS4 VAR_053282 p.Gln235Arg LB/B rs11265165 - OR10J5 Q8NHC4 VAR_062064 p.Arg233Trp LB/B rs35393723 - OR10K2 Q6IF99 VAR_053283 p.Ala208Thr LB/B rs12240099 - OR10P1 Q8NGE3 VAR_034294 p.Pro88Leu LB/B rs10876838 - OR10P1 Q8NGE3 VAR_034295 p.Val200Met LB/B rs7970885 - OR10Q1 Q8NGQ4 VAR_024129 p.Glu12Asp LB/B rs4245219 - OR10Q1 Q8NGQ4 VAR_062065 p.Arg191Cys LB/B rs11229301 - OR10R2 Q8NGX6 VAR_054355 p.Ala191Thr LB/B rs3820678 - OR10R2 Q8NGX6 VAR_054356 p.Glu216Gly LB/B rs6679056 - OR10R2 Q8NGX6 VAR_054357 p.Leu239Phe LB/B rs1418843 - OR10S1 Q8NGN2 VAR_054358 p.Gly63Ser LB/B rs17759513 - OR10S1 Q8NGN2 VAR_054359 p.Lys93Arg LB/B rs17686210 - OR10S1 Q8NGN2 VAR_054360 p.Ala112Val LB/B rs17759447 - OR10T2 Q8NGX3 VAR_053284 p.Val16Ala LB/B rs6660222 - OR10T2 Q8NGX3 VAR_053285 p.Phe65Leu LB/B rs41488350 - OR10T2 Q8NGX3 VAR_053286 p.Ile78Val LB/B rs6662597 - OR10T2 Q8NGX3 VAR_053287 p.Ile137Met LB/B rs6662382 - OR10T2 Q8NGX3 VAR_053288 p.Phe155Leu LB/B rs12062580 - OR10T2 Q8NGX3 VAR_053289 p.Lys312Asn LB/B rs6692949 - OR10V1 Q8NGI7 VAR_034296 p.Gln123Arg LB/B rs499033 - OR10V1 Q8NGI7 VAR_048065 p.Val117Ala LB/B rs472177 - OR10W1 Q8NGF6 VAR_057568 p.Arg263Gln LB/B rs10792156 - OR10X1 Q8NGY0 VAR_053290 p.Ile60Thr LB/B rs863363 - OR10X1 Q8NGY0 VAR_053291 p.Ala81Ser LB/B rs950164 - OR10X1 Q8NGY0 VAR_053292 p.Ser172Pro LB/B rs7550131 - OR10X1 Q8NGY0 VAR_053293 p.Phe180Leu LB/B rs16840360 - OR10Z1 Q8NGY1 VAR_034297 p.Asn294Thr LB/B rs857685 - OR11A1 Q9GZK7 VAR_010955 p.Ala165Thr LB/B rs9257857 - OR11A1 Q9GZK7 VAR_053294 p.Tyr121Cys LB/B rs16894898 - OR11G2 Q8NGC1 VAR_047237 p.Ile99Asn LB/B rs4981822 - OR11G2 Q8NGC1 VAR_047238 p.Val116Ile LB/B rs4981088 - OR11H4 Q8NGC9 VAR_034298 p.Thr301Ser LB/B rs17277270 - OR11H6 Q8NGC7 VAR_024130 p.Leu32Val LB/B rs9323693 - OR11H6 Q8NGC7 VAR_034299 p.Ser7Tyr LB/B rs10140652 - OR11H6 Q8NGC7 VAR_034300 p.Ile107Thr LB/B rs12891553 - OR11H6 Q8NGC7 VAR_034301 p.Arg146His LB/B rs17106351 - OR11H6 Q8NGC7 VAR_034302 p.Leu195Phe LB/B rs17211285 - OR11H6 Q8NGC7 VAR_034303 p.Tyr236His LB/B rs17277221 - OR11H6 Q8NGC7 VAR_034304 p.Cys259Arg LB/B rs17277228 - OR11L1 Q8NGX0 VAR_034305 p.Phe117Leu LB/B rs540891010 - OR11L1 Q8NGX0 VAR_053295 p.Gly108Ser LB/B rs10888257 - OR11L1 Q8NGX0 VAR_053296 p.Ala142Thr LB/B rs10888256 - OR11L1 Q8NGX0 VAR_053297 p.Arg171Pro LB/B rs10888255 - OR12D2 P58182 VAR_057569 p.Val47Phe LB/B rs9257834 - OR12D2 P58182 VAR_057570 p.Leu56Pro LB/B rs4987411 - OR12D2 P58182 VAR_057571 p.Phe113Leu LB/B rs2073154 - OR12D2 P58182 VAR_057572 p.Leu120Arg LB/B rs2073153 - OR12D2 P58182 VAR_057573 p.Ser121Cys LB/B rs2073152 - OR12D2 P58182 VAR_057574 p.Val132Gly LB/B rs11752608 - OR12D2 P58182 VAR_057575 p.Val159Ile LB/B rs2073151 - OR12D2 P58182 VAR_058967 p.Ser104Phe LB/B rs3128853 - OR12D3 Q9UGF7 VAR_020383 p.Thr97Ile LB/B rs3749971 - OR12D3 Q9UGF7 VAR_036209 p.Phe250Leu US rs545611345 A breast cancer sample OR12D3 Q9UGF7 VAR_053298 p.Tyr277His LB/B rs9380122 - OR13C2 Q8NGS9 VAR_060030 p.Ser160Thr LB/B rs1851716 - OR13C2 Q8NGS9 VAR_060031 p.Lys301Glu LB/B rs10156474 - OR13C3 Q8NGS6 VAR_024131 p.Lys293Thr LB/B rs10512330 - OR13C5 Q8NGS8 VAR_024132 p.Cys189Tyr LB/B rs4117966 - OR13C5 Q8NGS8 VAR_024133 p.Met258Thr LB/B rs1851724 - OR13C5 Q8NGS8 VAR_024134 p.Ile282Val LB/B rs1523678 - OR13C5 Q8NGS8 VAR_024135 p.Met290Thr LB/B rs1851725 - OR13C5 Q8NGS8 VAR_034306 p.Phe32Leu LB/B rs6479260 - OR13C5 Q8NGS8 VAR_053299 p.Ser18Phe LB/B rs1851722 - OR13C5 Q8NGS8 VAR_053300 p.Asn195Ser LB/B rs6479259 - OR13C5 Q8NGS8 VAR_060032 p.Leu69Met LB/B rs7042502 - OR13C5 Q8NGS8 VAR_060033 p.Leu86Val LB/B rs4629933 - OR13C5 Q8NGS8 VAR_060034 p.Val117Met LB/B rs2417534 - OR13C8 Q8NGS7 VAR_034307 p.Ala19Asp LB/B rs7026705 - OR13C9 Q8NGT0 VAR_024136 p.Glu24Asp LB/B rs2900373 - OR13C9 Q8NGT0 VAR_034308 p.Thr91Ser LB/B rs993658 - OR13C9 Q8NGT0 VAR_053301 p.Phe197Leu LB/B rs10761054 - OR13D1 Q8NGV5 VAR_055070 p.Phe21Leu LB/B rs10991359 - OR13D1 Q8NGV5 VAR_055071 p.Leu64Val LB/B rs13294411 - OR13D1 Q8NGV5 VAR_055072 p.Gln191His LB/B rs10820709 - OR13D1 Q8NGV5 VAR_055073 p.Ser277Leu LB/B rs10761073 - OR13F1 Q8NGS4 VAR_024137 p.Met101Val LB/B rs1403812 - OR13F1 Q8NGS4 VAR_034309 p.Phe18Ser LB/B rs7049042 - OR13F1 Q8NGS4 VAR_034310 p.Phe94Ser LB/B rs7018553 - OR13F1 Q8NGS4 VAR_034311 p.Thr254Met LB/B rs7030820 - OR13F1 Q8NGS4 VAR_053302 p.Val134Ile LB/B rs1403811 - OR13F1 Q8NGS4 VAR_053303 p.Ile270Thr LB/B rs7847413 - OR13G1 Q8NGZ3 VAR_048038 p.Ile132Val LB/B rs1151640 - OR13G1 Q8NGZ3 VAR_062067 p.Lys46Ile LB/B rs28711149 - OR13G1 Q8NGZ3 VAR_062068 p.Met146Leu LB/B rs28556931 - OR13G1 Q8NGZ3 VAR_062069 p.Arg224Cys LB/B rs28446289 - OR13H1 Q8NG92 VAR_034312 p.Tyr266Ser LB/B rs655415 - OR13J1 Q8NGT2 VAR_053304 p.His133Arg LB/B rs7044405 - OR14A16 Q8NHC5 VAR_043796 p.Ile238Thr LB/B rs6695283 - OR14C36 Q8NHC7 VAR_062070 p.Gln141Arg LB/B rs28448343 - OR14C36 Q8NHC7 VAR_062071 p.Gly225Arg LB/B rs28377739 - OR14C36 Q8NHC7 VAR_062072 p.Asp231Tyr LB/B rs28545014 - OR14I1 A6ND48 VAR_037030 p.Val36Ala LB/B rs4462184 - OR14I1 A6ND48 VAR_037031 p.Asp50Asn LB/B rs4509608 - OR14I1 A6ND48 VAR_037032 p.Ser170Asn LB/B rs2000390 - OR14I1 A6ND48 VAR_062073 p.Leu84Met LB/B rs41311583 - OR14I1 A6ND48 VAR_062074 p.Tyr216Cys LB/B rs55871516 - OR14J1 Q9UGF5 VAR_034234 p.Met7Thr LB/B rs9257694 - OR14J1 Q9UGF5 VAR_034235 p.Val278Met LB/B rs17404424 - OR1A1 Q9P1Q5 VAR_020380 p.Pro285Ser LB/B rs769427 - OR1A1 Q9P1Q5 VAR_034161 p.Val233Met LB/B rs17762735 - OR1A1 Q9P1Q5 VAR_047080 p.Arg128His LB/B rs4375699 - OR1A2 Q9Y585 VAR_022047 p.Gly256Cys LB/B rs2241091 - OR1A2 Q9Y585 VAR_034162 p.Arg260Cys LB/B rs2469791 - OR1A2 Q9Y585 VAR_034163 p.Trp293Cys LB/B rs12150427 - OR1A2 Q9Y585 VAR_062007 p.Leu244Phe LB/B rs56058341 - OR1B1 Q8NGR6 VAR_053114 p.Leu149Ser LB/B rs1536929 - OR1B1 Q8NGR6 VAR_053115 p.Ala230Thr LB/B rs1476859 - OR1B1 Q8NGR6 VAR_053116 p.Cys263Trp LB/B rs1476858 - OR1B1 Q8NGR6 VAR_053117 p.Val314Gly LB/B rs1556189 - OR1C1 Q15619 VAR_053118 p.Thr209Met LB/B rs12068080 - OR1D2 P34982 VAR_019630 p.Arg25Gln LB/B rs769423 - OR1D2 P34982 VAR_057534 p.Phe31Tyr LB/B rs9916628 - OR1D2 P34982 VAR_057535 p.Thr240Ile LB/B rs4300683 - OR1D2 P34982 VAR_062008 p.Val214Met LB/B rs55803944 - OR1E1 P30953 VAR_010226 p.Ala143Thr LB/B rs150989 - OR1E1 P30953 VAR_053119 p.Pro129Leu LB/B rs1735011 - OR1E1 P30953 VAR_053120 p.Ser262Pro LB/B rs379856 - OR1E2 P47887 VAR_029292 p.Cys27Arg LB/B rs769431 - OR1E2 P47887 VAR_036207 p.His168Asp US - A colorectal cancer sample OR1F1 O43749 VAR_024086 p.Phe75Ser LB/B rs1834026 - OR1F1 O43749 VAR_053121 p.Val126Met LB/B rs8045183 - OR1G1 P47890 VAR_053122 p.Gln88His LB/B rs9892491 - OR1I1 O60431 VAR_034164 p.Pro139Arg LB/B rs8104843 - OR1I1 O60431 VAR_034165 p.Phe211Leu LB/B rs8108721 - OR1I1 O60431 VAR_034166 p.Tyr252Ser LB/B rs8105737 - OR1I1 O60431 VAR_034167 p.Ile292Thr LB/B rs16980312 - OR1I1 O60431 VAR_062009 p.Ile50Phe LB/B rs59166286 - OR1I1 O60431 VAR_080450 p.Met163Leu LB/B rs76524797 - OR1I1 O60431 VAR_080451 p.Ile282Phe LB/B rs75323205 - OR1J1 Q8NGS3 VAR_059978 p.Asn318Ser LB/B rs1962091 - OR1J2 Q8NGS2 VAR_053123 p.Arg165Gln LB/B rs4836891 - OR1J2 Q8NGS2 VAR_062010 p.Ala119Thr LB/B rs41277120 - OR1K1 Q8NGR3 VAR_034168 p.Trp271Arg LB/B rs7046603 - OR1L1 Q8NH94 VAR_047141 p.Ser145Gly LB/B rs70157 - OR1L1 Q8NH94 VAR_047142 p.Thr149Ala LB/B rs16912055 - OR1L1 Q8NH94 VAR_047143 p.Leu308Val LB/B rs237620 - OR1L1 Q8NH94 VAR_047144 p.Gly349Arg LB/B rs16912062 - OR1L3 Q8NH93 VAR_034169 p.Val106Ala LB/B rs16912096 - OR1L3 Q8NH93 VAR_034170 p.Asn121Asp LB/B rs16912099 - OR1L3 Q8NH93 VAR_059979 p.Arg54Gly LB/B rs12379744 - OR1L4 Q8NGR5 VAR_053124 p.Gly234Arg LB/B rs2215530 - OR1L4 Q8NGR5 VAR_053125 p.Tyr310His LB/B rs12341025 - OR1L6 Q8NGR2 VAR_055056 p.Gln59Lys LB/B rs10760252 - OR1L6 Q8NGR2 VAR_055057 p.Cys186Tyr LB/B rs4838012 - OR1L6 Q8NGR2 VAR_055058 p.Ile251Thr LB/B rs10985760 - OR1L6 Q8NGR2 VAR_055059 p.Met259Ile LB/B rs10818741 - OR1L8 Q8NGR8 VAR_024087 p.Thr27Pro LB/B rs10985704 - OR1L8 Q8NGR8 VAR_024088 p.Arg211Pro LB/B rs10739614 - OR1N1 Q8NGS0 VAR_024089 p.Pro18Ser LB/B rs10818708 - OR1N1 Q8NGS0 VAR_036208 p.Thr190Asn US - A breast cancer sample OR1N1 Q8NGS0 VAR_062011 p.Arg227Gln LB/B rs58226717 - OR1N2 Q8NGR9 VAR_048028 p.Trp23Arg LB/B rs1831370 - OR1N2 Q8NGR9 VAR_048029 p.Val230Gly LB/B rs1341044 - OR1N2 Q8NGR9 VAR_048030 p.Thr287Met LB/B rs1411272 - OR1N2 Q8NGR9 VAR_062012 p.Arg223Cys LB/B rs41316976 - OR1Q1 Q15612 VAR_024768 p.Ile163Met LB/B rs1329957 - OR1Q1 Q15612 VAR_053126 p.Gln24Arg LB/B rs972925 - OR1Q1 Q15612 VAR_053127 p.Thr240Ala LB/B rs727913 - OR1S1 Q8NH92 VAR_048039 p.Ser5Gly LB/B rs1966836 - OR1S1 Q8NH92 VAR_048040 p.Ile123Thr LB/B rs1966835 - OR1S1 Q8NH92 VAR_048041 p.His135Arg LB/B rs1966834 - OR1S1 Q8NH92 VAR_048042 p.Asn183Asp LB/B rs1993088 - OR1S1 Q8NH92 VAR_048043 p.Leu206Met LB/B rs2867400 - OR1S1 Q8NH92 VAR_048044 p.Ser227Ile LB/B rs2903566 - OR1S2 Q8NGQ3 VAR_059980 p.Val225Ala LB/B rs11229277 - OR1S2 Q8NGQ3 VAR_059981 p.Val225Ile LB/B rs11229278 - OR1S2 Q8NGQ3 VAR_062013 p.Ile59Thr LB/B rs11229281 - OR2A12 Q8NGT7 VAR_034171 p.Ala223Thr LB/B rs9655672 - OR2A14 Q96R47 VAR_060477 p.Ser133Ile LB/B rs2961160 - OR2A14 Q96R47 VAR_060478 p.Ser164Arg LB/B rs2961161 - OR2A2 Q6IF42 VAR_053128 p.Leu210Pro LB/B rs10252253 - OR2A2 Q6IF42 VAR_059982 p.Gln5Lys LB/B rs10230228 - OR2A2 Q6IF42 VAR_059983 p.Phe280Leu LB/B rs2961149 - OR2A25 A4D2G3 VAR_054664 p.Ser75Asn LB/B rs6951485 - OR2A25 A4D2G3 VAR_054665 p.Ala209Pro LB/B rs2961135 - OR2A5 Q96R48 VAR_053129 p.Ile126Val LB/B rs2961144 - OR2A5 Q96R48 VAR_053130 p.Ala202Ser LB/B rs6464573 - OR2A5 Q96R48 VAR_059984 p.Ala255Thr LB/B rs6464574 - OR2AE1 Q8NHA4 VAR_053138 p.Ile77Thr LB/B rs2572023 - OR2AE1 Q8NHA4 VAR_053139 p.Leu267Val LB/B rs17161997 - OR2AE1 Q8NHA4 VAR_062019 p.Tyr217Cys LB/B rs60737583 - OR2AG1 Q9H205 VAR_053140 p.Val187Leu LB/B rs2659880 - OR2AG1 Q9H205 VAR_059985 p.Arg299Gly LB/B rs2659879 - OR2AG1 Q9H205 VAR_059986 p.Arg299Trp LB/B rs2659879 - OR2AG2 A6NM03 VAR_037497 p.Tyr28Cys LB/B rs7102536 - OR2AG2 A6NM03 VAR_037498 p.Arg54Pro LB/B rs10839616 - OR2AG2 A6NM03 VAR_037499 p.Arg87Leu LB/B rs11828782 - OR2AG2 A6NM03 VAR_037500 p.Arg299Gly LB/B rs7924459 - OR2AK2 Q8NG84 VAR_055051 p.Ser99Asn LB/B rs6664332 - OR2AK2 Q8NG84 VAR_055052 p.Val203Met LB/B rs4478844 - OR2B11 Q5JQS5 VAR_053132 p.Val198Met LB/B rs6695302 - OR2B11 Q5JQS5 VAR_053133 p.Gly223Asp LB/B rs4925663 - OR2B11 Q5JQS5 VAR_053134 p.Thr293Ile LB/B rs12065526 - OR2B11 Q5JQS5 VAR_053135 p.Asp300Gly LB/B rs12070953 - OR2B11 Q5JQS5 VAR_062015 p.Ile130Ser LB/B rs11583410 - OR2B2 Q9GZK3 VAR_010943 p.Gln234Arg LB/B rs34957169 - OR2B2 Q9GZK3 VAR_057536 p.Ala183Pro LB/B rs9368537 - OR2B2 Q9GZK3 VAR_062014 p.Ala300Ser LB/B rs34788973 - OR2B6 P58173 VAR_024090 p.Gln270Arg LB/B rs9380030 - OR2B6 P58173 VAR_053131 p.Val117Ile LB/B rs7767176 - OR2C1 O95371 VAR_047490 p.Gly16Ser LB/B rs1218762 - OR2C1 O95371 VAR_047491 p.Cys149Trp LB/B rs1218763 - OR2C1 O95371 VAR_047492 p.Arg229His LB/B rs11648783 - OR2C3 Q8N628 VAR_025540 p.Thr20Ala LB/B rs6697472 - OR2C3 Q8N628 VAR_025541 p.Pro68Ser LB/B rs6657127 - OR2C3 Q8N628 VAR_046378 p.Arg129Ser LB/B rs34220133 - OR2C3 Q8N628 VAR_062016 p.Leu289Val LB/B rs6702693 - OR2D2 Q9H210 VAR_046723 p.Ser148Pro LB/B rs1965209 - OR2D2 Q9H210 VAR_046724 p.Ile163Met LB/B rs1965207 - OR2D2 Q9H210 VAR_046725 p.Ile163Thr LB/B rs1965208 - OR2D2 Q9H210 VAR_046726 p.Met202Thr LB/B rs2741804 - OR2D2 Q9H210 VAR_062017 p.His84Tyr LB/B rs57896484 - OR2D2 Q9H210 VAR_062018 p.Arg220Gly LB/B rs60116285 - OR2D3 Q8NGH3 VAR_057537 p.Leu82Ile LB/B rs10839658 - OR2D3 Q8NGH3 VAR_057538 p.Arg155Trp LB/B rs12806437 - OR2D3 Q8NGH3 VAR_057539 p.Trp165Ser LB/B rs10839659 - OR2F1 Q13607 VAR_053136 p.Arg122Cys LB/B rs2072164 - OR2F1 Q13607 VAR_053137 p.His137Arg LB/B rs2072165 - OR2F2 O95006 VAR_022048 p.Ala98Val LB/B rs2240359 - OR2F2 O95006 VAR_034172 p.Thr170Ala LB/B rs13229174 - OR2F2 O95006 VAR_034173 p.Tyr278His LB/B rs13235235 - OR2G2 Q8NGZ5 VAR_034174 p.Pro24Ala LB/B rs12737801 - OR2G2 Q8NGZ5 VAR_034175 p.Val120Leu LB/B rs1151687 - OR2G2 Q8NGZ5 VAR_034176 p.Leu167Pro LB/B rs10925085 - OR2G2 Q8NGZ5 VAR_034177 p.Arg236Gly LB/B rs869111 - OR2G3 Q8NGZ4 VAR_034178 p.Val258Met LB/B rs12072304 - OR2G3 Q8NGZ4 VAR_053141 p.Leu164Ser LB/B rs6658792 - OR2G6 Q5TZ20 VAR_053142 p.Met258Leu LB/B rs9330305 - OR2G6 Q5TZ20 VAR_062020 p.Met59Val LB/B rs58955396 - OR2H1 Q9GZK4 VAR_010944 p.Asp63Asn LB/B rs61732185 - OR2H1 Q9GZK4 VAR_053143 p.Val223Met LB/B rs17184086 - OR2H2 O95918 VAR_010227 p.Leu30Ser LB/B - - OR2H2 O95918 VAR_010228 p.Ala48Val LB/B rs1233387 - OR2H2 O95918 VAR_010229 p.Thr220Ala LB/B rs141430371 - OR2H2 O95918 VAR_023231 p.Leu30Ile LB/B rs3129034 - OR2H2 O95918 VAR_057540 p.Val38Met LB/B rs11966382 - OR2H2 O95918 VAR_058087 p.Leu30Phe LB/B rs3129034 - OR2J1 Q9GZK6 VAR_019066 p.Leu14Ile LB/B rs3131087 - OR2J2 O76002 VAR_010945 p.His74Tyr LB/B rs3116855 - OR2J2 O76002 VAR_010946 p.Ala111Thr LB/B rs3129157 - OR2J2 O76002 VAR_010947 p.Ala146Val LB/B rs3116856 - OR2J2 O76002 VAR_010948 p.Ala218Thr LB/B rs3130743 - OR2J3 O76001 VAR_010949 p.Thr113Ala LB/B rs28757581 - OR2J3 O76001 VAR_010950 p.Arg226Gln LB/B rs3749977 - OR2J3 O76001 VAR_010951 p.Val228Ile LB/B rs3130764 - OR2J3 O76001 VAR_010952 p.Ile261Met LB/B rs3130765 - OR2L13 Q8N349 VAR_053148 p.Leu156Phe LB/B rs12742561 - OR2L13 Q8N349 VAR_062025 p.Arg265His LB/B rs45577033 - OR2L2 Q8NH16 VAR_053144 p.Phe249Leu LB/B rs12134979 - OR2L2 Q8NH16 VAR_053145 p.Val259Leu LB/B rs6658141 - OR2L3 Q8NG85 VAR_053146 p.Ser104Leu LB/B rs6658256 - OR2L3 Q8NG85 VAR_062021 p.Ile39Thr LB/B rs6666048 - OR2L3 Q8NG85 VAR_062022 p.Pro78Leu LB/B rs6658227 - OR2L3 Q8NG85 VAR_062023 p.Met139Val LB/B rs55937620 - OR2L8 Q8NGY9 VAR_053147 p.Tyr217Cys LB/B rs4925583 - OR2L8 Q8NGY9 VAR_059987 p.Gly196Cys LB/B rs4925788 - OR2L8 Q8NGY9 VAR_059988 p.Ala202Thr LB/B rs4925790 - OR2L8 Q8NGY9 VAR_059989 p.Lys294Arg LB/B rs10888282 - OR2L8 Q8NGY9 VAR_062024 p.His226Arg LB/B rs4925792 - OR2L8 Q8NGY9 VAR_080452 p.Thr301Lys LB/B rs74155337 - OR2M2 Q96R28 VAR_034179 p.Ala237Thr LB/B rs9435890 - OR2M2 Q96R28 VAR_059990 p.Arg220Gly LB/B rs4244171 - OR2M2 Q96R28 VAR_059991 p.Cys235Arg LB/B rs4916104 - OR2M2 Q96R28 VAR_062026 p.Ser87Cys LB/B rs61156873 - OR2M5 A3KFT3 VAR_064739 p.His244Asn US - - OR2M7 Q8NG81 VAR_053149 p.Val78Ala LB/B rs7555310 - OR2M7 Q8NG81 VAR_053150 p.Cys178Phe LB/B rs4916130 - OR2M7 Q8NG81 VAR_059992 p.Phe35Leu LB/B rs7555424 - OR2M7 Q8NG81 VAR_059993 p.Asp191Asn LB/B rs4916129 - OR2S2 Q9NQN1 VAR_059994 p.Arg17Gly LB/B rs2233558 - OR2S2 Q9NQN1 VAR_059995 p.Val30Met LB/B rs2233559 - OR2S2 Q9NQN1 VAR_059996 p.Pro89Ser LB/B rs2233560 - OR2S2 Q9NQN1 VAR_059997 p.Arg123His LB/B rs2233563 - OR2S2 Q9NQN1 VAR_059998 p.Met143Val LB/B rs2233564 - OR2S2 Q9NQN1 VAR_059999 p.Thr161Ala LB/B rs2233565 - OR2S2 Q9NQN1 VAR_060000 p.Val287Ala LB/B rs2233570 - OR2T1 O43869 VAR_057541 p.His25Arg LB/B rs28599722 - OR2T11 Q8NH01 VAR_053155 p.Cys119Arg LB/B rs1892443 - OR2T11 Q8NH01 VAR_053156 p.Gln309Arg LB/B rs1892442 - OR2T12 Q8NG77 VAR_053157 p.Lys296Asn LB/B rs11204625 - OR2T12 Q8NG77 VAR_060003 p.Ala41Ser LB/B rs12135684 - OR2T12 Q8NG77 VAR_060004 p.Met69Val LB/B rs6678138 - OR2T12 Q8NG77 VAR_060005 p.Thr104Ser LB/B rs12137982 - OR2T12 Q8NG77 VAR_060006 p.Arg301Leu LB/B rs6667171 - OR2T27 Q8NH04 VAR_053158 p.Leu36Val LB/B rs1782242 - OR2T27 Q8NH04 VAR_062030 p.Lys45Met LB/B rs28533004 - OR2T3 Q8NH03 VAR_053151 p.Met204Thr LB/B rs1770110 - OR2T33 Q8NG76 VAR_053159 p.Ala169Val LB/B rs10888338 - OR2T34 Q8NGX1 VAR_067439 p.Arg267Pro LB/B rs1770107 - OR2T4 Q8NH00 VAR_062027 p.Asn31Ser LB/B rs57795102 - OR2T5 Q6IEZ7 VAR_080453 p.Lys13Arg LB/B rs1770043 - OR2T6 Q8NHC8 VAR_053152 p.Thr57Asn LB/B rs6693032 - OR2T6 Q8NHC8 VAR_053153 p.Leu159Pro LB/B rs6701129 - OR2T6 Q8NHC8 VAR_053154 p.Ser243Ala LB/B rs954475 - OR2T6 Q8NHC8 VAR_060001 p.Asn21Asp LB/B rs7417616 - OR2T6 Q8NHC8 VAR_060002 p.Cys23Gly LB/B rs6587467 - OR2T8 A6NH00 VAR_037342 p.Gly39Ser LB/B rs11204563 - OR2T8 A6NH00 VAR_037343 p.Trp49Arg LB/B rs11204564 - OR2T8 A6NH00 VAR_037344 p.Thr179Ala LB/B rs4584426 - OR2T8 A6NH00 VAR_037345 p.Met197Arg LB/B rs4474294 - OR2T8 A6NH00 VAR_037346 p.Ala221Ser LB/B rs4362017 - OR2T8 A6NH00 VAR_037347 p.Arg305Trp LB/B rs6695357 - OR2T8 A6NH00 VAR_062028 p.Val69Met LB/B rs28575687 - OR2T8 A6NH00 VAR_062029 p.Arg311His LB/B rs58882030 - OR2V2 Q96R30 VAR_053160 p.Ala34Val LB/B rs17617270 - OR2V2 Q96R30 VAR_053161 p.His221Arg LB/B rs2546423 - OR2W1 Q9Y3N9 VAR_010953 p.Met81Val LB/B rs34892006 - OR2W1 Q9Y3N9 VAR_010954 p.Asp296Asn LB/B rs35771565 - OR2W3 Q7Z3T1 VAR_034180 p.Cys169Ser LB/B rs12083024 - OR2W3 Q7Z3T1 VAR_034181 p.Arg179Cys LB/B rs10888267 - OR2W3 Q7Z3T1 VAR_034182 p.Val190Ile LB/B rs12135078 - OR2W3 Q7Z3T1 VAR_034183 p.Glu196Asp LB/B rs12139390 - OR2W3 Q7Z3T1 VAR_034184 p.Met272Lys LB/B rs11204545 - OR2W3 Q7Z3T1 VAR_034185 p.Met275Thr LB/B rs11204546 - OR2W3 Q7Z3T1 VAR_074043 p.Arg142Trp LB/B rs189993261 - OR2Y1 Q8NGV0 VAR_034186 p.Val200Leu LB/B rs10464105 - OR2Y1 Q8NGV0 VAR_053162 p.Arg128Cys LB/B rs11960429 - OR2Y1 Q8NGV0 VAR_053163 p.Val154Met LB/B rs11954074 - OR2Z1 Q8NG97 VAR_062031 p.Arg138Cys LB/B rs58741481 - OR3A1 P47881 VAR_012059 p.Arg125Gln LB/B rs703903 - OR3A1 P47881 VAR_057542 p.Ser78Gly LB/B rs16952828 - OR3A2 P47893 VAR_062032 p.Leu190Val LB/B rs9901356 - OR3A3 P47888 VAR_054961 p.Leu132Phe LB/B rs769432 - OR3A3 P47888 VAR_054962 p.Trp158Leu LB/B rs916039 - OR3A3 P47888 VAR_054963 p.Met287Val LB/B rs12939997 - OR3A3 P47888 VAR_054964 p.Lys317Glu LB/B rs227787 - OR3A4P P47883 VAR_060594 p.Ile42Val LB/B rs9905684 - OR3A4P P47883 VAR_060595 p.Ser86Arg LB/B rs9905086 - OR3A4P P47883 VAR_060596 p.Glu103Gln LB/B rs9903671 - OR3A4P P47883 VAR_060597 p.Ile120Val LB/B rs9906179 - OR3A4P P47883 VAR_060598 p.Pro168Thr LB/B rs9911226 - OR3A4P P47883 VAR_060599 p.Asn175Ser LB/B rs9912090 - OR3A4P P47883 VAR_060600 p.Tyr181His LB/B rs2855677 - OR3A4P P47883 VAR_060601 p.Ser193Ala LB/B rs231678 - OR3A4P P47883 VAR_060602 p.Arg237Lys LB/B rs231677 - OR3A4P P47883 VAR_060603 p.Val300Ile LB/B rs8076130 - OR4A15 Q8NGL6 VAR_055053 p.Pro26Ser LB/B rs1425193 - OR4A15 Q8NGL6 VAR_055054 p.Ala287Val LB/B rs7927370 - OR4A16 Q8NH70 VAR_034187 p.Leu188Ile LB/B rs11229158 - OR4A16 Q8NH70 VAR_034188 p.Lys303Met LB/B rs10896659 - OR4A16 Q8NH70 VAR_053164 p.His232Arg LB/B rs12807769 - OR4A47 Q6IF82 VAR_047759 p.Gly82Asp LB/B rs12805819 - OR4A47 Q6IF82 VAR_047760 p.Ile104Leu LB/B rs7103557 - OR4A47 Q6IF82 VAR_047761 p.Val145Met LB/B rs7103992 - OR4A47 Q6IF82 VAR_047762 p.Ala192Asp LB/B rs7103932 - OR4A5 Q8NH83 VAR_031741 p.Asn6Ser LB/B rs10902343 - OR4A5 Q8NH83 VAR_062033 p.Lys23Asn LB/B rs56302591 - OR4A5 Q8NH83 VAR_062034 p.Leu219Gln LB/B rs35083184 - OR4B1 Q8NGF8 VAR_034189 p.Cys63Tyr LB/B rs11606506 - OR4B1 Q8NGF8 VAR_034190 p.Thr237Asn LB/B rs12292056 - OR4C11 Q6IEV9 VAR_057543 p.Pro8Thr LB/B rs491160 - OR4C11 Q6IEV9 VAR_057544 p.Leu15Ile LB/B rs11230346 - OR4C11 Q6IEV9 VAR_057545 p.Thr277Pro LB/B rs2456022 - OR4C12 Q96R67 VAR_034192 p.Val283Leu LB/B rs4598671 - OR4C13 Q8NGP0 VAR_067440 p.Ala2Val LB/B rs28378220 - OR4C13 Q8NGP0 VAR_067441 p.Val133Ile LB/B rs28662375 - OR4C16 Q8NGL9 VAR_034193 p.Thr76Ala LB/B rs557590 - OR4C16 Q8NGL9 VAR_053165 p.Val25Leu LB/B rs12800642 - OR4C16 Q8NGL9 VAR_053166 p.Thr49Ala LB/B rs558465 - OR4C16 Q8NGL9 VAR_053167 p.Ala203Thr LB/B rs12288690 - OR4C16 Q8NGL9 VAR_053168 p.Leu259Pro LB/B rs559449 - OR4C46 A6NHA9 VAR_037045 p.Ser240Phe LB/B rs11246607 - OR4C46 A6NHA9 VAR_037046 p.Cys252Tyr LB/B rs11246608 - OR4C46 A6NHA9 VAR_037047 p.Lys288Arg LB/B rs11246609 - OR4C6 Q8NH72 VAR_034191 p.Ile133Thr LB/B rs11230600 - OR4D1 Q15615 VAR_057546 p.Arg54Gln LB/B rs12602205 - OR4D1 Q15615 VAR_060479 p.Leu174Ile LB/B rs7218964 - OR4D11 Q8NGI4 VAR_034197 p.Phe197Leu LB/B rs7120079 - OR4D2 P58180 VAR_062035 p.Leu29Ile LB/B rs60994383 - OR4D6 Q8NGJ1 VAR_024091 p.Asp96Gly LB/B rs1453543 - OR4D6 Q8NGJ1 VAR_024092 p.Ser151Thr LB/B rs1453542 - OR4D6 Q8NGJ1 VAR_024093 p.Met263Thr LB/B rs1453541 - OR4D6 Q8NGJ1 VAR_034194 p.Glu11Gln LB/B rs17153766 - OR4D6 Q8NGJ1 VAR_034195 p.Phe102Ser LB/B rs17153770 - OR4D6 Q8NGJ1 VAR_034196 p.Asp111Ala LB/B rs17500380 - OR4D6 Q8NGJ1 VAR_053169 p.Met59Val LB/B rs1453544 - OR4D9 Q8NGE8 VAR_053170 p.Gln159Arg LB/B rs17501584 - OR4E1 P0C645 VAR_080171 p.Ile199Leu LB/B rs10143044 - OR4E1 P0C645 VAR_080172 p.Arg238Trp LB/B rs970025 - OR4E1 P0C645 VAR_080173 p.Val274Ala LB/B rs7144135 - OR4E2 Q8NGC2 VAR_034198 p.Val118Met LB/B rs2874103 - OR4E2 Q8NGC2 VAR_034199 p.Gln234Arg LB/B rs970382 - OR4K1 Q8NGD4 VAR_054121 p.Arg89His LB/B rs12885778 - OR4K1 Q8NGD4 VAR_054122 p.Arg138Gln LB/B rs3916626 - OR4K1 Q8NGD4 VAR_054123 p.Arg304His LB/B rs2792146 - OR4K13 Q8NH42 VAR_053172 p.Gln292Lys LB/B rs17277025 - OR4K14 Q8NGD5 VAR_053173 p.Met119Val LB/B rs7157076 - OR4K14 Q8NGD5 VAR_053174 p.Leu145Arg LB/B rs17308108 - OR4K15 Q8NH41 VAR_055060 p.Asn65Ser LB/B rs4060024 - OR4K15 Q8NH41 VAR_055061 p.Glu88Val LB/B rs3861512 - OR4K15 Q8NH41 VAR_055062 p.Ser93Ala LB/B rs3861513 - OR4K15 Q8NH41 VAR_055063 p.Ala231Glu LB/B rs10135246 - OR4K15 Q8NH41 VAR_055064 p.Leu280Pro LB/B rs2153466 - OR4K15 Q8NH41 VAR_055065 p.Ile286Met LB/B rs10135467 - OR4K2 Q8NGD2 VAR_053171 p.Asn307Ile LB/B rs12883767 - OR4K5 Q8NGD3 VAR_034200 p.Arg319Lys LB/B rs17242341 - OR4L1 Q8NH43 VAR_024094 p.Arg52Ser LB/B rs1959630 - OR4L1 Q8NH43 VAR_034201 p.Asp2Asn LB/B rs1958715 - OR4L1 Q8NH43 VAR_034202 p.Met40Val LB/B rs1958716 - OR4L1 Q8NH43 VAR_034203 p.Ser93Phe LB/B rs10139756 - OR4L1 Q8NH43 VAR_034204 p.Met101Lys LB/B rs2775253 - OR4L1 Q8NH43 VAR_034205 p.Gly109Ser LB/B rs2775254 - OR4L1 Q8NH43 VAR_062036 p.Gly16Val LB/B rs45584133 - OR4L1 Q8NH43 VAR_062037 p.Ile160Thr LB/B rs45585336 - OR4M1 Q8NGD0 VAR_034206 p.Thr116Ile LB/B rs2635535 - OR4M1 Q8NGD0 VAR_048031 p.Gly232Asp LB/B rs2815960 - OR4M2 Q8NGB6 VAR_047831 p.Gly96Glu LB/B rs1835183 - OR4M2 Q8NGB6 VAR_047832 p.Asp121Asn LB/B rs11857531 - OR4M2 Q8NGB6 VAR_047833 p.Phe225Leu LB/B rs491208 - OR4M2 Q8NGB6 VAR_047834 p.Met239Val LB/B rs12593418 - OR4M2 Q8NGB6 VAR_047835 p.Arg284His LB/B rs4087943 - OR4N2 Q8NGD1 VAR_034207 p.Val135Leu LB/B rs17114261 - OR4N2 Q8NGD1 VAR_048032 p.Ile76Thr LB/B rs2801164 - OR4N2 Q8NGD1 VAR_048033 p.Pro133Ser LB/B rs2318279 - OR4N4 Q8N0Y3 VAR_048034 p.Leu61Phe LB/B rs535034 - OR4N4 Q8N0Y3 VAR_048035 p.Leu86Phe LB/B rs2808136 - OR4N4 Q8N0Y3 VAR_048036 p.Thr239Met LB/B rs475947 - OR4N4 Q8N0Y3 VAR_048037 p.Phe274Leu LB/B rs3817271 - OR4N5 Q8IXE1 VAR_024095 p.Asn191Asp LB/B rs10131326 - OR4N5 Q8IXE1 VAR_034208 p.Ser234Thr LB/B rs10140908 - OR4N5 Q8IXE1 VAR_034209 p.Cys260Arg LB/B rs10134472 - OR4N5 Q8IXE1 VAR_053175 p.Arg290His LB/B rs10141025 - OR4Q3 Q8NH05 VAR_053176 p.Thr135Ala LB/B rs17210864 - OR4Q3 Q8NH05 VAR_053177 p.Phe238Leu LB/B rs12896533 - OR4S2 Q8NH73 VAR_057547 p.Ser72Thr LB/B rs17146960 - OR4S2 Q8NH73 VAR_057548 p.Val195Gly LB/B rs7949664 - OR4X1 Q8NH49 VAR_034210 p.Pro165Leu LB/B rs16905753 - OR4X1 Q8NH49 VAR_034211 p.Asp246Asn LB/B rs17199104 - OR4X1 Q8NH49 VAR_034212 p.Pro282Ser LB/B rs10838852 - OR4X1 Q8NH49 VAR_053178 p.Arg144Gly LB/B rs1503193 - OR4X1 Q8NH49 VAR_053179 p.Leu196Gln LB/B rs12798361 - OR51A2 Q8NGJ7 VAR_024138 p.Gly59Glu LB/B rs112749434 - OR51A2 Q8NGJ7 VAR_024139 p.Met288Thr LB/B rs2442426 - OR51A2 Q8NGJ7 VAR_053305 p.Lys289Asn LB/B rs2570573 - OR51A2 Q8NGJ7 VAR_062075 p.Gly45Cys LB/B rs28482315 - OR51A4 Q8NGJ6 VAR_034313 p.Arg267Gly LB/B rs2595988 - OR51A4 Q8NGJ6 VAR_034314 p.Thr288Met LB/B rs28698374 - OR51A4 Q8NGJ6 VAR_053306 p.Asp72Asn LB/B rs2412467 - OR51A4 Q8NGJ6 VAR_062076 p.Gly45Cys LB/B rs3845246 - OR51A4 Q8NGJ6 VAR_062077 p.Arg311Trp LB/B rs2436782 - OR51A7 Q8NH64 VAR_024140 p.Glu8Lys LB/B rs11034596 - OR51A7 Q8NH64 VAR_034315 p.Met81Thr LB/B rs7108225 - OR51A7 Q8NH64 VAR_034316 p.Val196Ala LB/B rs7108654 - OR51B2 Q9Y5P1 VAR_057576 p.Pro283Ser LB/B rs11036815 - OR51B2 Q9Y5P1 VAR_063114 p.Cys120Arg LB/B rs7952293 - OR51B2 Q9Y5P1 VAR_063115 p.Leu134Phe LB/B rs10837814 - OR51B2 Q9Y5P1 VAR_063116 p.Cys209Ser LB/B rs7937237 - OR51B2 Q9Y5P1 VAR_063117 p.Ser312Arg LB/B rs11036814 - OR51B4 Q9Y5P0 VAR_024141 p.Val36Ile LB/B rs7118113 - OR51B4 Q9Y5P0 VAR_030348 p.Met147Thr LB/B rs10837771 - OR51B5 Q9H339 VAR_053307 p.Gly5Ser LB/B rs11036913 - OR51B5 Q9H339 VAR_053308 p.Ile102Thr LB/B rs11036912 - OR51B5 Q9H339 VAR_053309 p.Val154Ile LB/B rs12273630 - OR51B5 Q9H339 VAR_053310 p.Pro160Leu LB/B rs4910551 - OR51B5 Q9H339 VAR_053311 p.Leu220Phe LB/B rs7120319 - OR51B5 Q9H339 VAR_062078 p.Thr78Lys LB/B rs57273781 - OR51B5 Q9H339 VAR_062079 p.Arg88Gly LB/B rs57900141 - OR51B6 Q9H340 VAR_053312 p.Lys5Thr LB/B rs4910755 - OR51B6 Q9H340 VAR_053313 p.Asn40Ser LB/B rs4910756 - OR51B6 Q9H340 VAR_053314 p.Ile90Thr LB/B rs7483122 - OR51B6 Q9H340 VAR_053315 p.Thr123Ala LB/B rs5006889 - OR51B6 Q9H340 VAR_053316 p.Thr131Ile LB/B rs5006887 - OR51B6 Q9H340 VAR_053317 p.Arg145Gly LB/B rs5006886 - OR51B6 Q9H340 VAR_053318 p.Ser169Ala LB/B rs5006885 - OR51B6 Q9H340 VAR_053319 p.Leu172Phe LB/B rs5006884 - OR51B6 Q9H340 VAR_053320 p.Phe192Leu LB/B rs5006883 - OR51B6 Q9H340 VAR_053321 p.Val254Leu LB/B rs7106330 - OR51B6 Q9H340 VAR_053322 p.Ser275Arg LB/B rs5024042 - OR51B6 Q9H340 VAR_060035 p.Arg125His LB/B rs7479477 - OR51B6 Q9H340 VAR_060036 p.Ser126Asn LB/B rs5006888 - OR51D1 Q8NGF3 VAR_053323 p.Ile89Val LB/B rs905871 - OR51E1 Q8TCB6 VAR_034317 p.Ser11Asn LB/B rs17224476 - OR51E1 Q8TCB6 VAR_057577 p.Ser10Asn LB/B rs17224476 - OR51F1 A6NGY5 VAR_037506 p.Thr20Ala LB/B rs17324812 - OR51F1 A6NGY5 VAR_037507 p.Phe73Ser LB/B rs11033801 - OR51F1 A6NGY5 VAR_037508 p.Arg74Met LB/B rs11033800 - OR51F1 A6NGY5 VAR_037509 p.His232Arg LB/B rs11033793 - OR51F1 A6NGY5 VAR_037510 p.Asp301Tyr LB/B rs1030726 - OR51F1 A6NGY5 VAR_057578 p.Arg202Gln LB/B rs16938368 - OR51F1 A6NGY5 VAR_057579 p.Ala258Val LB/B rs17324609 - OR51F1 A6NGY5 VAR_060037 p.Ser233Phe LB/B rs1030723 - OR51G1 Q8NGK1 VAR_034318 p.Tyr125Ser LB/B rs1378739 - OR51G1 Q8NGK1 VAR_053324 p.Ser114Leu LB/B rs10836954 - OR51G1 Q8NGK1 VAR_053325 p.Arg124His LB/B rs34742470 - OR51G1 Q8NGK1 VAR_053326 p.Ile195Thr LB/B rs12796015 - OR51G1 Q8NGK1 VAR_062080 p.Gln303His LB/B rs57920748 - OR51G2 Q8NGK0 VAR_034319 p.Glu96Gln LB/B rs12419598 - OR51G2 Q8NGK0 VAR_053327 p.Ala94Glu LB/B rs16907312 - OR51I1 Q9H343 VAR_024142 p.Ala252Ser LB/B rs1498486 - OR51I1 Q9H343 VAR_034320 p.Val164Leu LB/B rs11037445 - OR51I1 Q9H343 VAR_053328 p.Arg124His LB/B rs16930982 - OR51I2 Q9H344 VAR_024143 p.Arg263His LB/B rs11037502 - OR51I2 Q9H344 VAR_034321 p.Arg122Cys LB/B rs10450603 - OR51I2 Q9H344 VAR_034322 p.Thr134Ala LB/B rs12577167 - OR51I2 Q9H344 VAR_034323 p.Arg151Pro LB/B rs16931292 - OR51J1 Q9H342 VAR_044085 p.Cys100Tyr LB/B rs1909261 - OR51L1 Q8NGJ5 VAR_034324 p.Thr196Ile LB/B rs10768448 - OR51L1 Q8NGJ5 VAR_034325 p.Ala207Val LB/B rs10768450 - OR51M1 Q9H341 VAR_070593 p.His102Gln LB/B rs1498467 - OR51M1 Q9H341 VAR_070594 p.Leu135Phe LB/B rs1498468 - OR51M1 Q9H341 VAR_070595 p.Ile204Thr LB/B rs1498469 - OR51M1 Q9H341 VAR_070596 p.Pro256His LB/B rs9783355 - OR51M1 Q9H341 VAR_070597 p.Leu257Arg LB/B rs2736531 - OR51M1 Q9H341 VAR_070598 p.Phe318Leu LB/B rs10768907 - OR51Q1 Q8NH59 VAR_024144 p.Val211Met LB/B rs2736586 - OR51Q1 Q8NH59 VAR_034326 p.Thr146Ile LB/B rs10838092 - OR51Q1 Q8NH59 VAR_034327 p.Cys153Arg LB/B rs10838093 - OR51Q1 Q8NH59 VAR_034328 p.Arg178His LB/B rs10838095 - OR51Q1 Q8NH59 VAR_053329 p.Val155Ile LB/B rs10838094 - OR51Q1 Q8NH59 VAR_053330 p.Phe308Ser LB/B rs2647573 - OR51S1 Q8NGJ8 VAR_024145 p.Leu178Arg LB/B rs7117260 - OR51S1 Q8NGJ8 VAR_034329 p.Ile57Asn LB/B rs12417164 - OR51S1 Q8NGJ8 VAR_034330 p.Gln60Glu LB/B rs11602499 - OR51S1 Q8NGJ8 VAR_053331 p.Leu264Phe LB/B rs12361955 - OR51V1 Q9H2C8 VAR_057580 p.Ser233Leu LB/B rs7933549 - OR51V1 Q9H2C8 VAR_079498 p.Leu211Val LB/B - - OR52A4P A6NMU1 VAR_037540 p.Asp87Gly LB/B rs7947334 - OR52A4P A6NMU1 VAR_037541 p.Tyr180Ser LB/B rs10837375 - OR52A4P A6NMU1 VAR_037542 p.Cys277Arg LB/B rs4426129 - OR52A4P A6NMU1 VAR_062081 p.Thr303Ala LB/B rs10837374 - OR52B2 Q96RD2 VAR_054126 p.Phe105Tyr LB/B rs16909422 - OR52B4 Q8NGK2 VAR_037834 p.Thr139Ile LB/B rs11031961 - OR52B6 Q8NGF0 VAR_048077 p.Thr57Ala LB/B rs1077126 - OR52B6 Q8NGF0 VAR_048078 p.Leu111His LB/B rs2341432 - OR52B6 Q8NGF0 VAR_048079 p.Ala167Thr LB/B rs2341433 - OR52B6 Q8NGF0 VAR_048080 p.His170Arg LB/B rs2341434 - OR52B6 Q8NGF0 VAR_048081 p.Val288Ile LB/B rs10769086 - OR52D1 Q9H346 VAR_024146 p.Ile251Thr LB/B rs7101919 - OR52D1 Q9H346 VAR_034331 p.Arg154Cys LB/B rs7935144 - OR52D1 Q9H346 VAR_034332 p.Asp213Glu LB/B rs7924754 - OR52D1 Q9H346 VAR_034333 p.Tyr221Phe LB/B rs7950082 - OR52D1 Q9H346 VAR_034334 p.Arg304Trp LB/B rs11037758 - OR52E2 Q8NGJ4 VAR_053332 p.Asn5Ser LB/B rs16909440 - OR52E2 Q8NGJ4 VAR_053333 p.Arg167Trp LB/B rs11035396 - OR52E2 Q8NGJ4 VAR_053334 p.Arg264Cys LB/B rs2500052 - OR52E4 Q8NGH9 VAR_024147 p.Val176Ile LB/B rs4758168 - OR52E4 Q8NGH9 VAR_024148 p.Arg184Met LB/B rs4757986 - OR52E4 Q8NGH9 VAR_034335 p.Phe49Leu LB/B rs16914094 - OR52E4 Q8NGH9 VAR_034336 p.Arg228His LB/B rs4757987 - OR52E4 Q8NGH9 VAR_034337 p.Phe257Leu LB/B rs11823842 - OR52E4 Q8NGH9 VAR_062082 p.Phe227Leu LB/B rs11823828 - OR52E5 Q8NH55 VAR_034338 p.Ile165Thr LB/B rs17234326 - OR52E5 Q8NH55 VAR_034339 p.Asp209Gly LB/B rs16926732 - OR52E5 Q8NH55 VAR_034340 p.Pro234Leu LB/B rs7106300 - OR52E6 Q96RD3 VAR_048066 p.Ile39Val LB/B rs4362173 - OR52E6 Q96RD3 VAR_048067 p.Phe48Leu LB/B rs10769272 - OR52E6 Q96RD3 VAR_048068 p.Cys64Phe LB/B rs4495918 - OR52E6 Q96RD3 VAR_048069 p.Ser95Pro LB/B rs4592451 - OR52E6 Q96RD3 VAR_048070 p.Trp133Arg LB/B rs10838719 - OR52E6 Q96RD3 VAR_048071 p.Ile159Val LB/B rs4357719 - OR52E6 Q96RD3 VAR_048072 p.Phe170Tyr LB/B rs7943698 - OR52E6 Q96RD3 VAR_048073 p.Met199Arg LB/B rs10742809 - OR52H1 Q8NGJ2 VAR_054361 p.Val41Ile LB/B rs2254076 - OR52H1 Q8NGJ2 VAR_054362 p.Ala83Thr LB/B rs10769054 - OR52H1 Q8NGJ2 VAR_054363 p.His124Arg LB/B rs1566275 - OR52H1 Q8NGJ2 VAR_054364 p.Gly229Cys LB/B rs1995157 - OR52H1 Q8NGJ2 VAR_054365 p.Cys236Arg LB/B rs1995158 - OR52H1 Q8NGJ2 VAR_054366 p.Met277Thr LB/B rs7934354 - OR52H1 Q8NGJ2 VAR_062083 p.Val39Ala LB/B rs56291963 - OR52I1 Q8NGK6 VAR_034342 p.Thr41Ile LB/B rs2010722 - OR52I2 Q8NH67 VAR_048082 p.Leu25Pro LB/B rs7128702 - OR52I2 Q8NH67 VAR_048083 p.Ile74Leu LB/B rs12793957 - OR52I2 Q8NH67 VAR_048084 p.Thr167Met LB/B rs1847632 - OR52I2 Q8NH67 VAR_048085 p.Ile178Val LB/B rs7947426 - OR52I2 Q8NH67 VAR_048086 p.Ile183Val LB/B rs7947432 - OR52J3 Q8NH60 VAR_034343 p.Thr77Ala LB/B rs2500016 - OR52J3 Q8NH60 VAR_034344 p.Val128Ile LB/B rs2500017 - OR52J3 Q8NH60 VAR_034345 p.Gln141Leu LB/B rs2500018 - OR52J3 Q8NH60 VAR_034346 p.Val226Ile LB/B rs17350764 - OR52K1 Q8NGK4 VAR_060038 p.Gln52Arg LB/B rs96489 - OR52K1 Q8NGK4 VAR_060039 p.Arg153Trp LB/B rs331510 - OR52K2 Q8NGK3 VAR_034347 p.Arg124Cys LB/B rs11032296 - OR52K2 Q8NGK3 VAR_034348 p.Arg302Cys LB/B rs7934336 - OR52K2 Q8NGK3 VAR_047827 p.Arg236His LB/B rs331537 - OR52L1 Q8NGH7 VAR_055078 p.Asp88Asn LB/B rs4501959 - OR52L1 Q8NGH7 VAR_055079 p.Arg140Cys LB/B rs4436525 - OR52L1 Q8NGH7 VAR_055080 p.Arg161Cys LB/B rs4436524 - OR52L1 Q8NGH7 VAR_055081 p.Thr183Lys LB/B rs4354673 - OR52L1 Q8NGH7 VAR_055082 p.Arg297Trp LB/B rs4237768 - OR52M1 Q8NGK5 VAR_034349 p.Ser9Leu LB/B rs7112010 - OR52M1 Q8NGK5 VAR_034350 p.Ser305Arg LB/B rs2657167 - OR52N1 Q8NH53 VAR_024149 p.Arg167Cys LB/B rs7948009 - OR52N1 Q8NH53 VAR_034351 p.Phe247Ile LB/B rs7934670 - OR52N1 Q8NH53 VAR_053335 p.Thr79Asn LB/B rs12365487 - OR52N1 Q8NH53 VAR_053336 p.Ala101Thr LB/B rs10742787 - OR52N1 Q8NH53 VAR_053337 p.Cys125Tyr LB/B rs10769224 - OR52N2 Q8NGI0 VAR_024150 p.Ser249Ala LB/B rs8181529 - OR52N2 Q8NGI0 VAR_024151 p.His264Arg LB/B rs8181512 - OR52N4 Q8NGI2 VAR_034352 p.Thr106Ile LB/B rs7936512 - OR52N4 Q8NGI2 VAR_034353 p.Asn218Ile LB/B rs7396938 - OR52N4 Q8NGI2 VAR_053338 p.Leu167Arg LB/B rs7394584 - OR52N4 Q8NGI2 VAR_053339 p.Trp209Gly LB/B rs12363178 - OR52N5 Q8NH56 VAR_047147 p.Val133Ile LB/B rs12360738 - OR52R1 Q8NGF1 VAR_059061 p.Phe88Leu LB/B rs17327254 - OR52R1 Q8NGF1 VAR_059062 p.Ile129Thr LB/B rs7941731 - OR52R1 Q8NGF1 VAR_059063 p.Asn201Tyr LB/B rs6578533 - OR52R1 Q8NGF1 VAR_059064 p.Ser245Ala LB/B rs2053116 - OR52W1 Q6IF63 VAR_044514 p.His239Arg LB/B rs10839531 - OR52W1 Q6IF63 VAR_044515 p.Leu254Gln LB/B rs11040799 - OR52W1 Q6IF63 VAR_044516 p.Thr266Ala LB/B rs325609 - OR56A3 Q8NH54 VAR_024152 p.Met51Thr LB/B rs1840178 - OR56B1 Q8NGI3 VAR_055055 p.Cys106Arg LB/B rs7397032 - OR56B4 Q8NH76 VAR_024153 p.Pro277Ser LB/B rs1462983 - OR5A1 Q8NGJ0 VAR_024096 p.Asp183Asn LB/B rs6591536 - OR5A1 Q8NGJ0 VAR_034213 p.Ile52Val LB/B rs17153732 - OR5A2 Q8NGI9 VAR_024097 p.Pro172Leu LB/B rs1453547 - OR5A2 Q8NGI9 VAR_048045 p.Phe103Leu LB/B rs17153691 - OR5AC2 Q9NZP5 VAR_034214 p.Met200Ile LB/B rs4518168 - OR5AK2 Q8NH90 VAR_034215 p.Gly4Val LB/B rs10896563 - OR5AK2 Q8NH90 VAR_034216 p.Met92Ile LB/B rs2853083 - OR5AK2 Q8NH90 VAR_060007 p.Ser43Thr LB/B rs12420424 - OR5AN1 Q8NGI8 VAR_024098 p.Leu289Phe LB/B rs7941190 - OR5AP2 Q8NGF4 VAR_053180 p.Ala105Thr LB/B rs11606499 - OR5AR1 Q8NGP9 VAR_062038 p.Ile225Val LB/B rs56067375 - OR5AS1 Q8N127 VAR_034217 p.Arg122Leu LB/B rs12224086 - OR5AS1 Q8N127 VAR_034218 p.Tyr310Cys LB/B rs17600939 - OR5AU1 Q8NGC0 VAR_047234 p.Val80Met LB/B rs17102042 - OR5AU1 Q8NGC0 VAR_047235 p.Leu117Phe LB/B rs4982419 - OR5AU1 Q8NGC0 VAR_047236 p.Ile299Val LB/B rs7145814 - OR5AU1 Q8NGC0 VAR_062039 p.Ser194Leu LB/B rs59120409 - OR5AU1 Q8NGC0 VAR_062040 p.Asn274Lys LB/B rs57985939 - OR5B12 Q96R08 VAR_053191 p.Cys141Arg LB/B rs4938895 - OR5B12 Q96R08 VAR_053192 p.Cys141Tyr LB/B rs11229457 - OR5B17 Q8NGF7 VAR_034219 p.Leu80Ile LB/B rs4939208 - OR5B17 Q8NGF7 VAR_053193 p.Tyr308Cys LB/B rs4127353 - OR5B2 Q96R09 VAR_053181 p.Met200Thr LB/B rs4298923 - OR5B2 Q96R09 VAR_053182 p.Val208Ala LB/B rs10466659 - OR5B21 A6NL26 VAR_062041 p.Ser272Tyr LB/B rs58454093 - OR5B3 Q8NH48 VAR_053183 p.Pro30Leu LB/B rs17152661 - OR5B3 Q8NH48 VAR_053184 p.Ile35Phe LB/B rs17152659 - OR5B3 Q8NH48 VAR_053185 p.Trp49Arg LB/B rs11229413 - OR5B3 Q8NH48 VAR_053186 p.Asn170Ser LB/B rs12280114 - OR5B3 Q8NH48 VAR_053187 p.Ala181Thr LB/B rs11229411 - OR5B3 Q8NH48 VAR_053188 p.Ile198Val LB/B rs11229410 - OR5B3 Q8NH48 VAR_053189 p.Gly247Ala LB/B rs11229409 - OR5B3 Q8NH48 VAR_053190 p.Lys296Arg LB/B rs12279895 - OR5D13 Q8NGL4 VAR_024099 p.Cys62Tyr LB/B rs297118 - OR5D13 Q8NGL4 VAR_024100 p.Arg124His LB/B rs11230983 - OR5D13 Q8NGL4 VAR_034220 p.Arg236Leu LB/B rs7124871 - OR5D14 Q8NGL3 VAR_034221 p.Ser249Ala LB/B rs297054 - OR5D14 Q8NGL3 VAR_034222 p.Leu290Pro LB/B rs297055 - OR5D16 Q8NGK9 VAR_034223 p.Ala156Thr LB/B rs6591700 - OR5D18 Q8NGL1 VAR_034224 p.Val118Met LB/B rs11231180 - OR5D18 Q8NGL1 VAR_048046 p.Tyr36Cys LB/B rs7948629 - OR5D18 Q8NGL1 VAR_048047 p.Asn136Asp LB/B rs297081 - OR5D18 Q8NGL1 VAR_062042 p.His270Arg LB/B rs55832853 - OR5F1 O95221 VAR_034225 p.Ser294Asn LB/B rs2449134 - OR5F1 O95221 VAR_053194 p.Tyr278His LB/B rs11825964 - OR5F1 O95221 VAR_062043 p.Thr192Ala LB/B rs35607186 - OR5H1 A6NKK0 VAR_037089 p.Ser148Thr LB/B rs5009896 - OR5H1 A6NKK0 VAR_037091 p.Ile153Leu LB/B rs9845327 - OR5H1 A6NKK0 VAR_037092 p.Thr181Ile LB/B rs9826076 - OR5H1 A6NKK0 VAR_037093 p.Ser230Thr LB/B rs9849637 - OR5H14 A6NHG9 VAR_037393 p.Gly64Arg LB/B rs4241468 - OR5H14 A6NHG9 VAR_037394 p.Tyr189Cys LB/B rs4857076 - OR5H15 A6NDH6 VAR_037027 p.Val108Ile LB/B rs4133320 - OR5H15 A6NDH6 VAR_037028 p.Ser148Thr LB/B rs4133321 - OR5H15 A6NDH6 VAR_037029 p.Thr167Ser LB/B rs4133322 - OR5H2 Q8NGV7 VAR_053195 p.Ile225Val LB/B rs16839214 - OR5H2 Q8NGV7 VAR_053196 p.Arg261Cys LB/B rs17787561 - OR5H2 Q8NGV7 VAR_053197 p.Ile281Val LB/B rs16839611 - OR5H6 Q8NGV6 VAR_054343 p.Ala46Glu LB/B rs4241472 - OR5H6 Q8NGV6 VAR_054344 p.Ala145Pro LB/B rs9289564 - OR5H6 Q8NGV6 VAR_054345 p.Ser179Leu LB/B rs16846784 - OR5H6 Q8NGV6 VAR_054346 p.Cys195Arg LB/B rs9853887 - OR5H6 Q8NGV6 VAR_054347 p.Thr272Ala LB/B rs9853906 - OR5H6 Q8NGV6 VAR_054348 p.Asp285Asn LB/B rs9871143 - OR5H6 Q8NGV6 VAR_060008 p.Ser88Leu LB/B rs2173236 - OR5H6 Q8NGV6 VAR_060009 p.Ser88Trp LB/B rs2173236 - OR5I1 Q13606 VAR_024101 p.Phe76Ser LB/B rs9666086 - OR5I1 Q13606 VAR_053198 p.Arg6Gly LB/B rs17597625 - OR5I1 Q13606 VAR_053199 p.Leu50Ser LB/B rs4367963 - OR5I1 Q13606 VAR_053200 p.Val306Ile LB/B rs9665861 - OR5J2 Q8NH18 VAR_034226 p.Met136Ile LB/B rs12279899 - OR5K3 A6NET4 VAR_037044 p.Gly44Asp LB/B rs13068323 - OR5K4 A6NMS3 VAR_037448 p.Ile206Val LB/B rs9822460 - OR5L1 Q8NGL2 VAR_034227 p.Ile46Phe LB/B rs2869020 - OR5L1 Q8NGL2 VAR_034228 p.Ser287Pro LB/B rs12790505 - OR5L1 Q8NGL2 VAR_062044 p.Arg54Trp LB/B rs34961497 - OR5L2 Q8NGL0 VAR_034229 p.Met81Arg LB/B rs17148058 - OR5L2 Q8NGL0 VAR_062045 p.Val59Met LB/B rs56711116 - OR5M1 Q8NGP8 VAR_060010 p.Ser282Thr LB/B rs4939078 - OR5M10 Q6IEU7 VAR_053201 p.Val69Leu LB/B rs10792043 - OR5M10 Q6IEU7 VAR_053202 p.Ile313Thr LB/B rs10896488 - OR5M11 Q96RB7 VAR_034231 p.Ser171Asn LB/B rs628524 - OR5M11 Q96RB7 VAR_034232 p.Val280Leu LB/B rs17547207 - OR5M3 Q8NGP4 VAR_057549 p.Leu84Phe LB/B rs605734 - OR5M3 Q8NGP4 VAR_057550 p.Gly163Ser LB/B rs17150664 - OR5M9 Q8NGP3 VAR_034230 p.Lys270Arg LB/B rs1945237 - OR5P2 Q8WZ92 VAR_053203 p.Gly7Arg LB/B rs1482804 - OR5P2 Q8WZ92 VAR_053204 p.Asn318Asp LB/B rs7949771 - OR5P3 Q8WZ94 VAR_048048 p.Thr158Lys LB/B rs16932503 - OR5P3 Q8WZ94 VAR_048094 p.Phe251Leu LB/B rs364427 - OR5T1 Q8NG75 VAR_034233 p.Ser164Gly LB/B rs12360890 - OR5T1 Q8NG75 VAR_053210 p.Pro60Leu LB/B rs7126079 - OR5T2 Q8NGG2 VAR_054349 p.Ser21Tyr LB/B rs3919907 - OR5T2 Q8NGG2 VAR_054350 p.Thr64Ile LB/B rs11227599 - OR5T2 Q8NGG2 VAR_054351 p.Val87Leu LB/B rs10791893 - OR5T2 Q8NGG2 VAR_054352 p.Thr125Met LB/B rs7122514 - OR5T2 Q8NGG2 VAR_054353 p.Leu238Val LB/B rs12221615 - OR5T2 Q8NGG2 VAR_054354 p.His309Asp LB/B rs7121880 - OR5T3 Q8NGG3 VAR_047836 p.Trp84Gly LB/B rs17150243 - OR5V1 Q9UGF6 VAR_053211 p.Leu23Trp LB/B rs6930033 - OR5V1 Q9UGF6 VAR_053212 p.Ile45Met LB/B rs9257770 - OR5V1 Q9UGF6 VAR_064740 p.Leu136Pro US - - OR5W2 Q8NH69 VAR_034236 p.Ala163Pro LB/B rs17148883 - OR5W2 Q8NH69 VAR_034237 p.Arg189Cys LB/B rs2457239 - OR5W2 Q8NH69 VAR_053213 p.Phe39Leu LB/B rs17511797 - OR5W2 Q8NH69 VAR_053214 p.His65Arg LB/B rs12419022 - OR5W2 Q8NH69 VAR_053215 p.Met160Thr LB/B rs17596519 - OR5W2 Q8NH69 VAR_053216 p.Phe215Leu LB/B rs17596422 - OR5W2 Q8NH69 VAR_062046 p.Phe310Tyr LB/B rs34573569 - OR6A2 O95222 VAR_053217 p.Ala22Val LB/B rs7122644 - OR6B1 O95007 VAR_034238 p.Arg143Cys LB/B rs7787378 - OR6B2 Q6IFH4 VAR_062047 p.Cys179Arg LB/B rs10187574 - OR6B2 Q6IFH4 VAR_062048 p.Arg227Cys LB/B rs60841887 - OR6B3 Q8NGW1 VAR_062049 p.Cys234Tyr LB/B rs12465491 - OR6C1 Q96RD1 VAR_034239 p.Cys130Tyr LB/B rs7132431 - OR6C1 Q96RD1 VAR_034240 p.His165Asp LB/B rs7132347 - OR6C1 Q96RD1 VAR_034241 p.Thr222Ile LB/B rs7132600 - OR6C1 Q96RD1 VAR_034242 p.Val246Ile LB/B rs7132916 - OR6C2 Q9NZP2 VAR_034243 p.Pro181Ala LB/B rs11171466 - OR6C2 Q9NZP2 VAR_034244 p.Leu209Pro LB/B rs11171467 - OR6C3 Q9NZP0 VAR_034245 p.Ala234Ser LB/B rs11832940 - OR6C3 Q9NZP0 VAR_053218 p.Ser69Leu LB/B rs4318060 - OR6C3 Q9NZP0 VAR_053219 p.Met133Thr LB/B rs11835321 - OR6C4 Q8NGE1 VAR_034246 p.Ile37Val LB/B rs7313899 - OR6C4 Q8NGE1 VAR_053220 p.Met83Thr LB/B rs11835716 - OR6C6 A6NF89 VAR_037048 p.Thr190Ile LB/B rs11171402 - OR6C65 A6NJZ3 VAR_037049 p.Leu13Gln LB/B rs12424958 - OR6C65 A6NJZ3 VAR_037050 p.Thr222Ala LB/B rs7971073 - OR6C70 A6NIJ9 VAR_036971 p.Leu181Pro LB/B rs10747756 - OR6C70 A6NIJ9 VAR_062050 p.Lys233Asn LB/B rs60683621 - OR6C74 A6NCV1 VAR_036981 p.Arg2Gly LB/B rs7301705 - OR6C74 A6NCV1 VAR_036982 p.Leu61Phe LB/B rs11171388 - OR6C74 A6NCV1 VAR_036983 p.Tyr75Cys LB/B rs4388990 - OR6C74 A6NCV1 VAR_036984 p.Gly86Asp LB/B rs6581025 - OR6C74 A6NCV1 VAR_036985 p.Arg120Cys LB/B rs4321039 - OR6C75 A6NL08 VAR_036972 p.Leu141Phe LB/B rs7976023 - OR6C75 A6NL08 VAR_036973 p.Ala235Asp LB/B rs7976416 - OR6F1 Q8NGZ6 VAR_034247 p.Phe215Leu LB/B rs2282316 - OR6F1 Q8NGZ6 VAR_053221 p.Pro159Ala LB/B rs6665599 - OR6F1 Q8NGZ6 VAR_062051 p.Leu13Pro LB/B rs60303431 - OR6J1 Q8NGC5 VAR_087850 p.Ser250Pro LB/B rs1753430 - OR6K2 Q8NGY2 VAR_034248 p.Arg6Gln LB/B rs413029 - OR6K2 Q8NGY2 VAR_034249 p.Leu156Val LB/B rs423141 - OR6K2 Q8NGY2 VAR_034250 p.Ile159Phe LB/B rs6686179 - OR6K3 Q8NGY3 VAR_055066 p.Gly20Arg LB/B rs857705 - OR6K3 Q8NGY3 VAR_055067 p.Pro244Ser LB/B rs857703 - OR6K3 Q8NGY3 VAR_055068 p.Pro264Leu LB/B rs28568406 - OR6K3 Q8NGY3 VAR_055069 p.Arg308Lys LB/B rs16840675 - OR6K3 Q8NGY3 VAR_062052 p.Gln159His LB/B rs857704 - OR6K3 Q8NGY3 VAR_062053 p.Asp279Asn LB/B rs857702 - OR6K3 Q8NGY3 VAR_064741 p.Val216Met LB/B rs151330882 - OR6K6 Q8NGW6 VAR_057551 p.Glu39Asp LB/B rs16840974 - OR6K6 Q8NGW6 VAR_057552 p.His49Tyr LB/B rs16840976 - OR6K6 Q8NGW6 VAR_057553 p.Gly80Asp LB/B rs16840980 - OR6K6 Q8NGW6 VAR_057554 p.Ser134Leu LB/B rs16840991 - OR6K6 Q8NGW6 VAR_057555 p.Arg159Cys LB/B rs16841001 - OR6K6 Q8NGW6 VAR_057556 p.Cys197Arg LB/B rs16841009 - OR6K6 Q8NGW6 VAR_057557 p.Pro211Leu LB/B rs16841017 - OR6K6 Q8NGW6 VAR_057558 p.Arg247Gln LB/B rs16841038 - OR6K6 Q8NGW6 VAR_057559 p.His261Arg LB/B rs16841042 - OR6K6 Q8NGW6 VAR_057560 p.Lys320Arg LB/B rs16841045 - OR6M1 Q8NGM8 VAR_053222 p.Thr276Lys LB/B rs4936845 - OR6N1 Q8NGY5 VAR_024106 p.Ala10Thr LB/B rs1864346 - OR6N1 Q8NGY5 VAR_024107 p.Ile194Thr LB/B rs857827 - OR6N1 Q8NGY5 VAR_024108 p.Gln261Arg LB/B rs857825 - OR6N1 Q8NGY5 VAR_024109 p.Arg293His LB/B rs857824 - OR6N1 Q8NGY5 VAR_053223 p.Phe245Leu LB/B rs857826 - OR6N2 Q8NGY6 VAR_053224 p.Ala204Val LB/B rs12027473 - OR6N2 Q8NGY6 VAR_062054 p.Ile250Val LB/B rs41273541 - OR6Q1 Q8NGQ2 VAR_057561 p.Gly316Ala LB/B rs1374570 - OR6Q1 Q8NGQ2 VAR_064742 p.Phe172Ile US - - OR6S1 Q8NH40 VAR_057562 p.Thr42Ile LB/B rs11622794 - OR6S1 Q8NH40 VAR_057563 p.Val156Ile LB/B rs11622969 - OR6S1 Q8NH40 VAR_057564 p.Arg237His LB/B rs17277522 - OR6S1 Q8NH40 VAR_057565 p.Arg296Cys LB/B rs17114309 - OR6T1 Q8NGN1 VAR_048049 p.Ile23Thr LB/B rs6590022 - OR6T1 Q8NGN1 VAR_048050 p.Arg64Trp LB/B rs6590021 - OR6T1 Q8NGN1 VAR_048051 p.Ile251Val LB/B rs7937317 - OR6V1 Q8N148 VAR_034251 p.Ser237Phe LB/B rs10245778 - OR6V1 Q8N148 VAR_034252 p.Arg269Lys LB/B rs7791886 - OR6V1 Q8N148 VAR_034253 p.Val295Ala LB/B rs7779316 - OR6X1 Q8NH79 VAR_024110 p.Thr190Asn LB/B rs12364099 - OR6Y1 Q8NGX8 VAR_062055 p.Thr104Ile LB/B rs55665765 - OR7A10 O76100 VAR_034254 p.Gln183Glu LB/B rs9305052 - OR7A10 O76100 VAR_053225 p.Met151Thr LB/B rs12972670 - OR7A10 O76100 VAR_053226 p.Ile225Leu LB/B rs11880955 - OR7A10 O76100 VAR_053227 p.Ala273Thr LB/B rs10221530 - OR7A17 O14581 VAR_053228 p.Val37Ala LB/B rs10405148 - OR7A17 O14581 VAR_053229 p.Ile46Thr LB/B rs10405129 - OR7A17 O14581 VAR_053230 p.Ala69Ser LB/B rs10404119 - OR7A17 O14581 VAR_053231 p.Ala237Thr LB/B rs13345394 - OR7C1 O76099 VAR_024111 p.Val126Ile LB/B rs10415562 - OR7C1 O76099 VAR_024112 p.Ser210Pro LB/B rs16979912 - OR7C1 O76099 VAR_053232 p.Ser99Gly LB/B rs17230134 - OR7C1 O76099 VAR_053233 p.Glu171Lys LB/B rs10415312 - OR7C2 O60412 VAR_027808 p.Thr118Met LB/B rs8113325 - OR7C2 O60412 VAR_053234 p.Arg122His LB/B rs11883178 - OR7D2 Q96RA2 VAR_053235 p.Thr197Met LB/B rs13345452 - OR7D4 Q8NG98 VAR_037778 p.Asp52Gly LB/B rs144165121 - OR7D4 Q8NG98 VAR_037779 p.Ser75Cys LB/B rs778417216 - OR7D4 Q8NG98 VAR_037780 p.Pro79Leu LB/B rs61732668 - OR7D4 Q8NG98 VAR_037781 p.Ser84Asn LB/B rs5020280 - OR7D4 Q8NG98 VAR_037782 p.Arg88Trp LB/B rs61729907 - OR7D4 Q8NG98 VAR_037783 p.His131Gln LB/B rs748899150 - OR7D4 Q8NG98 VAR_037784 p.Thr133Met LB/B rs5020278 - OR7D4 Q8NG98 VAR_037785 p.Met136Ile LB/B rs5020277 - OR7D4 Q8NG98 VAR_037786 p.Cys139Arg LB/B rs1310684516 - OR7D4 Q8NG98 VAR_037787 p.Cys139Tyr LB/B rs1205320769 - OR7D4 Q8NG98 VAR_037788 p.Leu162Pro LB/B rs1321662937 - OR7D4 Q8NG98 VAR_037789 p.Ala279Asp LB/B rs138510982 - OR7D4 Q8NG98 VAR_037790 p.Leu292Met LB/B rs4564704 - OR7D4 Q8NG98 VAR_062056 p.Leu17Phe LB/B rs57568862 - OR7E24 Q6IFN5 VAR_053236 p.Ser193Phe LB/B rs12980833 - OR7E24 Q6IFN5 VAR_053237 p.Pro242Ser LB/B rs2240928 - OR7G1 Q8NGA0 VAR_034255 p.Trp141Cys LB/B rs2217657 - OR7G1 Q8NGA0 VAR_034256 p.Tyr252Cys LB/B rs2195951 - OR7G1 Q8NGA0 VAR_048074 p.Val83Ala LB/B rs6511874 - OR7G1 Q8NGA0 VAR_048075 p.Ala156Val LB/B rs7246980 - OR7G1 Q8NGA0 VAR_048076 p.Ser167Phe LB/B rs7246969 - OR7G2 Q8NG99 VAR_024113 p.Phe281Val LB/B rs4804401 - OR7G3 Q8NG95 VAR_024114 p.Met29Val LB/B rs10414255 - OR8A1 Q8NGG7 VAR_053238 p.Ser218Leu LB/B rs12792184 - OR8A1 Q8NGG7 VAR_062057 p.Thr133Arg LB/B rs55861866 - OR8B2 Q96RD0 VAR_055147 p.Leu27Phe LB/B rs530740 - OR8B2 Q96RD0 VAR_060011 p.Leu164Phe LB/B rs886202 - OR8B2 Q96RD0 VAR_062058 p.His20Arg LB/B rs28373946 - OR8B2 Q96RD0 VAR_062059 p.Ser273Phe LB/B rs503220 - OR8B3 Q8NGG8 VAR_047145 p.His20Arg LB/B rs507335 - OR8B3 Q8NGG8 VAR_047146 p.Met114Ile LB/B rs530992 - OR8B4 Q96RC9 VAR_024115 p.Tyr131His LB/B rs4057750 - OR8B4 Q96RC9 VAR_053239 p.Glu22Gly LB/B rs10750270 - OR8B4 Q96RC9 VAR_053240 p.Cys140Phe LB/B rs7116575 - OR8B4 Q96RC9 VAR_053241 p.Cys178Arg LB/B rs4057749 - OR8D1 Q8WZ84 VAR_024116 p.Leu194Pro LB/B rs4936919 - OR8D1 Q8WZ84 VAR_053242 p.Phe102Val LB/B rs2510433 - OR8D1 Q8WZ84 VAR_053243 p.Cys127Trp LB/B rs7107539 - OR8D2 Q9GZM6 VAR_024117 p.Arg122His LB/B rs2512219 - OR8D2 Q9GZM6 VAR_053244 p.Pro263Leu LB/B rs2466620 - OR8D4 Q8NGM9 VAR_024118 p.Arg133Lys LB/B rs7926767 - OR8D4 Q8NGM9 VAR_024119 p.Phe200Leu LB/B rs10790610 - OR8D4 Q8NGM9 VAR_024120 p.Leu283Pro LB/B rs7942047 - OR8D4 Q8NGM9 VAR_024121 p.Arg298Lys LB/B rs7927385 - OR8D4 Q8NGM9 VAR_034257 p.Leu55Arg LB/B rs17127947 - OR8D4 Q8NGM9 VAR_034258 p.Ile92Val LB/B rs17127950 - OR8D4 Q8NGM9 VAR_034259 p.Phe205Ser LB/B rs12270203 - OR8D4 Q8NGM9 VAR_053245 p.Cys120Tyr LB/B rs10750250 - OR8G1 Q15617 VAR_034260 p.Ala247Val LB/B rs4482039 - OR8H1 Q8NGG4 VAR_034261 p.Glu22Val LB/B rs17540861 - OR8H1 Q8NGG4 VAR_053246 p.Gly2Ser LB/B rs11600896 - OR8H2 Q8N162 VAR_034262 p.His120Tyr LB/B rs2512961 - OR8H2 Q8N162 VAR_034263 p.Tyr169Cys LB/B rs2449148 - OR8H2 Q8N162 VAR_062060 p.Val284Met LB/B rs1842696 - OR8H3 Q8N146 VAR_024122 p.Ile201Val LB/B rs17531522 - OR8H3 Q8N146 VAR_034264 p.Pro137Ser LB/B rs1842691 - OR8H3 Q8N146 VAR_034265 p.Arg295Lys LB/B rs11606538 - OR8H3 Q8N146 VAR_060012 p.Leu47Ile LB/B rs7107077 - OR8I2 Q8N0Y5 VAR_034266 p.Ile124Val LB/B rs17603011 - OR8I2 Q8N0Y5 VAR_034267 p.Lys139Asn LB/B rs17150021 - OR8J1 Q8NGP2 VAR_034268 p.Gly36Val LB/B rs7927015 - OR8J1 Q8NGP2 VAR_034269 p.Met114Leu LB/B rs7942730 - OR8J1 Q8NGP2 VAR_060013 p.Tyr120Cys LB/B rs10896290 - OR8J3 Q8NGG0 VAR_048052 p.Asn57Thr LB/B rs1947924 - OR8J3 Q8NGG0 VAR_048053 p.Val87Ile LB/B rs7937461 - OR8J3 Q8NGG0 VAR_048054 p.Val208Phe LB/B rs1384094 - OR8J3 Q8NGG0 VAR_048055 p.Asp271Glu LB/B rs17150102 - OR8K1 Q8NGG5 VAR_034270 p.Met21Val LB/B rs10896271 - OR8K1 Q8NGG5 VAR_034271 p.Pro27Thr LB/B rs10896272 - OR8K1 Q8NGG5 VAR_034272 p.Ala84Thr LB/B rs17614327 - OR8K3 Q8NH51 VAR_024123 p.Leu122Arg LB/B rs960193 - OR8K3 Q8NH51 VAR_034273 p.Val173Ile LB/B rs12291617 - OR8K3 Q8NH51 VAR_034274 p.Ile275Met LB/B rs17150317 - OR8K5 Q8NH50 VAR_048056 p.Phe68Ser LB/B rs2512938 - OR8S1 Q8NH09 VAR_034275 p.Met48Val LB/B rs2731073 - OR8S1 Q8NH09 VAR_057566 p.Leu82Pro LB/B rs4075258 - OR8S1 Q8NH09 VAR_057567 p.Arg128Cys LB/B rs12425460 - OR8U1 Q8NH10 VAR_053247 p.His20Arg LB/B rs11228166 - OR8U1 Q8NH10 VAR_053248 p.Ile109Val LB/B rs12788990 - OR8U1 Q8NH10 VAR_053249 p.Ser112Cys LB/B rs10791961 - OR8U1 Q8NH10 VAR_053250 p.Arg165Cys LB/B rs17150411 - OR8U1 Q8NH10 VAR_053251 p.Leu288Val LB/B rs1573509 - OR8U1 Q8NH10 VAR_053252 p.Gln293Arg LB/B rs12272403 - OR8U1 Q8NH10 VAR_060014 p.Thr137Ser LB/B rs10791962 - OR8U1 Q8NH10 VAR_060015 p.Met206Ile LB/B rs10896310 - OR8U1 Q8NH10 VAR_060016 p.Met206Thr LB/B rs10896309 - OR8U3 Q8NH85 VAR_024102 p.Ile7Thr LB/B rs7931261 - OR8U3 Q8NH85 VAR_024103 p.Cys122Arg LB/B rs6591324 - OR8U3 Q8NH85 VAR_024104 p.Phe184Leu LB/B rs7930678 - OR8U3 Q8NH85 VAR_024105 p.Ala274Val LB/B rs998544 - OR8U3 Q8NH85 VAR_053205 p.Cys103Tyr LB/B rs7123108 - OR8U3 Q8NH85 VAR_053206 p.Asp121Gly LB/B rs7111634 - OR8U3 Q8NH85 VAR_053207 p.Ser128Gly LB/B rs7933772 - OR8U3 Q8NH85 VAR_053208 p.Tyr132His LB/B rs17150578 - OR8U3 Q8NH85 VAR_053209 p.Ile162Thr LB/B rs12785840 - OR9A2 Q8NGT5 VAR_053253 p.Arg53His LB/B rs9885986 - OR9G1 Q8NH87 VAR_032777 p.Cys53Arg LB/B rs532637 - OR9G1 Q8NH87 VAR_032778 p.Phe61Val LB/B rs3975155 - OR9G1 Q8NH87 VAR_032779 p.Thr83Ile LB/B rs602224 - OR9G1 Q8NH87 VAR_032780 p.Tyr112Cys LB/B rs4990194 - OR9G1 Q8NH87 VAR_032781 p.Val117Met LB/B rs591369 - OR9G1 Q8NH87 VAR_034276 p.Ala259Ser LB/B rs7121276 - OR9G1 Q8NH87 VAR_053254 p.Arg169Cys LB/B rs11228733 - OR9G1 Q8NH87 VAR_053255 p.Glu185Lys LB/B rs11228735 - OR9G1 Q8NH87 VAR_053256 p.Lys231Gln LB/B rs12420076 - OR9G1 Q8NH87 VAR_060017 p.Cys53Tyr LB/B rs532635 - OR9G1 Q8NH87 VAR_060018 p.Thr62Ile LB/B rs2865520 - OR9G1 Q8NH87 VAR_060019 p.Cys98Gly LB/B rs11228732 - OR9G1 Q8NH87 VAR_060020 p.Tyr233Cys LB/B rs10896517 - OR9G1 Q8NH87 VAR_060021 p.Tyr233His LB/B rs10896516 - OR9G4 Q8NGQ1 VAR_053257 p.Phe43Ser LB/B rs11228763 - OR9G4 Q8NGQ1 VAR_053258 p.Asn206Asp LB/B rs577576 - OR9G4 Q8NGQ1 VAR_053259 p.Val222Ala LB/B rs513873 - OR9K2 Q8NGE7 VAR_048057 p.Arg45Cys LB/B rs12303066 - OR9K2 Q8NGE7 VAR_048058 p.Glu103Ala LB/B rs7305779 - OR9K2 Q8NGE7 VAR_048059 p.Arg207His LB/B rs7306491 - OR9Q1 Q8NGQ5 VAR_053260 p.Arg159Leu LB/B rs12420738 - OR9Q2 Q8NGE9 VAR_062061 p.Cys179Arg LB/B rs34337292 - ORAI1 Q96D31 VAR_026226 p.Arg91Trp LP/P rs118203993 Immunodeficiency 9 (IMD9) [MIM:612782] ORAI1 Q96D31 VAR_038608 p.Ser218Gly LB/B rs3741596 - ORAI1 Q96D31 VAR_071473 p.Pro245Leu LP/P rs587777528 Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883] ORAI1 Q96D31 VAR_078083 p.Gly98Ser LP/P rs786204796 Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883] ORAI1 Q96D31 VAR_078084 p.Val107Met LP/P - Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883] ORAI1 Q96D31 VAR_078085 p.Thr184Met LP/P rs1555324111 Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883] ORAI2 Q96SN7 VAR_053543 p.Ala15Pro LB/B rs34947403 - ORC1 Q13415 VAR_014507 p.Arg19Ser LB/B rs3087473 - ORC1 Q13415 VAR_014508 p.Gln180His LB/B rs3087482 - ORC1 Q13415 VAR_014509 p.Val190Met LB/B rs3087477 - ORC1 Q13415 VAR_014510 p.Ala372Val LB/B rs3087476 - ORC1 Q13415 VAR_014511 p.Arg441Met LB/B rs3087472 - ORC1 Q13415 VAR_014512 p.Lys456Glu LB/B rs3087470 - ORC1 Q13415 VAR_014513 p.Thr466Met LB/B rs3087481 - ORC1 Q13415 VAR_014514 p.Cys469Tyr LB/B rs3087483 - ORC1 Q13415 VAR_050426 p.Met816Thr LB/B rs34521609 - ORC1 Q13415 VAR_065481 p.Phe89Ser LP/P rs387906827 Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690] ORC1 Q13415 VAR_065482 p.Arg105Gln LP/P rs143141689 Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690] ORC1 Q13415 VAR_065483 p.Glu127Gly LP/P rs387906826 Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690] ORC1 Q13415 VAR_065484 p.Arg666Trp LP/P rs201253919 Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690] ORC1 Q13415 VAR_065485 p.Arg720Gln LP/P rs387906828 Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690] ORC2 Q13416 VAR_014515 p.Met106Lys LB/B rs2307361 - ORC2 Q13416 VAR_021276 p.Arg521Gln LB/B rs16835624 - ORC3 Q9UBD5 VAR_014516 p.Gln94Lys LB/B rs2307365 - ORC3 Q9UBD5 VAR_014517 p.Gln126Arg LB/B rs2307371 - ORC3 Q9UBD5 VAR_014518 p.Val217Ile LB/B rs2307389 - ORC3 Q9UBD5 VAR_014519 p.Ile247Val LB/B rs2307374 - ORC3 Q9UBD5 VAR_014520 p.Thr287Met LB/B rs2307381 - ORC3 Q9UBD5 VAR_014521 p.Thr389Pro LB/B rs2307372 - ORC3 Q9UBD5 VAR_014522 p.Arg588Cys LB/B rs2307370 - ORC3 Q9UBD5 VAR_020656 p.Ala626Thr LB/B rs28381545 - ORC4 O43929 VAR_014523 p.Leu56Val LB/B rs2307397 - ORC4 O43929 VAR_019235 p.Asn78Ser LB/B rs2307394 - ORC4 O43929 VAR_065486 p.Tyr174Cys LP/P rs387906847 Meier-Gorlin syndrome 2 (MGORS2) [MIM:613800] ORC5 O43913 VAR_011800 p.Gly37Arg LB/B rs1056677 - ORC5 O43913 VAR_014524 p.Lys52Asn LB/B rs2307413 - ORC5 O43913 VAR_014525 p.Arg166Cys LB/B rs2307402 - ORC6 Q9Y5N6 VAR_029283 p.Arg32Trp LB/B rs3218744 - ORC6 Q9Y5N6 VAR_029284 p.Pro138Gln LB/B rs3218745 - ORC6 Q9Y5N6 VAR_065487 p.Tyr232Ser LP/P rs387906969 Meier-Gorlin syndrome 3 (MGORS3) [MIM:613803] ORM1 P02763 VAR_013840 p.Arg38Gln LB/B rs17650 - ORM1 P02763 VAR_013841 p.Val174Met LB/B rs1126801 - ORM1 P02763 VAR_056166 p.Arg167Cys LB/B rs3182034 - ORM2 P19652 VAR_014667 p.Arg38Gln LB/B rs147969317 - ORM2 P19652 VAR_050172 p.Val99Ala LB/B rs2636889 - ORM2 P19652 VAR_050173 p.Gly141Arg LB/B rs12685968 - ORM2 P19652 VAR_050174 p.Cys167Arg LB/B rs1126777 - ORM2 P19652 VAR_050175 p.Met174Val LB/B rs2636890 - OS9 Q13438 VAR_011897 p.Arg398Trp LB/B rs1804598 - OS9 Q13438 VAR_034364 p.Ser454Leu LB/B rs34764811 - OS9 Q13438 VAR_069062 p.Asp305Asn LB/B rs141986192 - OSBP P22059 VAR_036099 p.Asp278Ala US - A colorectal cancer sample OSBP2 Q969R2 VAR_053546 p.Met760Val LB/B rs34240867 - OSBPL10 Q9BXB5 VAR_022100 p.Asn254Asp LB/B rs2290532 - OSBPL11 Q9BXB4 VAR_036100 p.Ser184Leu US rs746035150 A breast cancer sample OSBPL1A Q9BXW6 VAR_053547 p.Ser810Pro LB/B rs35693789 - OSBPL3 Q9H4L5 VAR_053548 p.Met354Val LB/B rs11768296 - OSBPL5 Q9H0X9 VAR_020414 p.Ala774Thr LB/B rs2277301 - OSBPL5 Q9H0X9 VAR_060079 p.Thr90Ile LB/B rs6578323 - OSBPL6 Q9BZF3 VAR_053550 p.Pro58Leu LB/B rs34874235 - OSBPL6 Q9BZF3 VAR_057663 p.Arg53Gln LB/B rs35032920 - OSBPL7 Q9BZF2 VAR_053551 p.Thr156Ile LB/B rs35437144 - OSBPL7 Q9BZF2 VAR_060080 p.Met148Ile LB/B rs8076196 - OSBPL7 Q9BZF2 VAR_060081 p.Ala169Glu LB/B rs8071195 - OSBPL9 Q96SU4 VAR_069380 p.Pro266Leu LB/B rs140080386 - OSCAR Q8IYS5 VAR_037108 p.Ile97Ser LB/B rs1657535 - OSCAR Q8IYS5 VAR_047393 p.Ser229Tyr LB/B rs8106130 - OSCP1 Q8WVF1 VAR_027741 p.Pro31Arg LB/B rs11547025 - OSCP1 Q8WVF1 VAR_027742 p.Lys242Glu LB/B rs2359016 - OSCP1 Q8WVF1 VAR_056958 p.Thr141Ala LB/B rs34409118 - OSER1 Q9NX31 VAR_024333 p.Val74Gly LB/B rs9346 - OSGEP Q9NPF4 VAR_080357 p.Ile14Phe LP/P rs1555331969 Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] OSGEP Q9NPF4 VAR_080358 p.Lys78Glu LP/P rs200347983 Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] OSGEP Q9NPF4 VAR_080359 p.Val107Met LP/P rs140583554 Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] OSGEP Q9NPF4 VAR_080360 p.Cys110Arg LP/P rs140076803 Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] OSGEP Q9NPF4 VAR_080361 p.Ile111Thr LP/P rs1443735811 Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] OSGEP Q9NPF4 VAR_080362 p.Ile139Thr LP/P rs1334263407 Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] OSGEP Q9NPF4 VAR_080363 p.Gly177Ala LP/P rs778931753 Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] OSGEP Q9NPF4 VAR_080364 p.Lys198Arg LP/P - Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] OSGEP Q9NPF4 VAR_080365 p.Arg247Gln LP/P rs773173317 Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] OSGEP Q9NPF4 VAR_080366 p.Arg280Cys LP/P rs374322839 Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] OSGEP Q9NPF4 VAR_080367 p.Arg280His LP/P rs144732839 Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] OSGEP Q9NPF4 VAR_080368 p.Arg280Leu LP/P rs144732839 Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] OSGEP Q9NPF4 VAR_080369 p.Arg325Gln LP/P rs753237335 Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] OSGEP Q9NPF4 VAR_080370 p.Arg325Trp LP/P rs761839638 Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] OSGEPL1 Q9H4B0 VAR_036651 p.Ala229Pro LB/B rs3749014 - OSGIN1 Q9UJX0 VAR_056575 p.Glu356Asp LB/B rs35145453 - OSGIN2 Q9Y236 VAR_050421 p.Tyr101His LB/B rs35542900 - OSGIN2 Q9Y236 VAR_050422 p.Cys319Ser LB/B rs35599414 - OSM P13725 VAR_049782 p.Thr9Met LB/B rs5763919 - OSMR Q99650 VAR_028972 p.Gly210Trp LB/B rs17855841 - OSMR Q99650 VAR_028973 p.Glu527Lys LB/B rs10941412 - OSMR Q99650 VAR_028974 p.Asp553Asn LB/B rs2278329 - OSMR Q99650 VAR_028975 p.Pro936Ser LB/B rs3749737 - OSMR Q99650 VAR_043512 p.His187Gln LB/B rs34675408 - OSMR Q99650 VAR_043513 p.Gly618Ala LP/P rs63750560 Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250] OSMR Q99650 VAR_043514 p.Ile691Thr LP/P rs63750567 Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250] OSMR Q99650 VAR_043515 p.Pro959Arg LB/B rs34080825 - OSMR Q99650 VAR_065810 p.Asp647Val LP/P rs387906821 Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250] OSMR Q99650 VAR_065811 p.Pro694Leu LP/P rs387906822 Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250] OSMR Q99650 VAR_065812 p.Lys697Thr LP/P rs387906823 Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250] OSTC Q9NRP0 VAR_039231 p.Phe9Leu US - A breast cancer sample OSTF1 Q92882 VAR_026573 p.Leu159Phe LB/B rs17850197 - OSTF1 Q92882 VAR_048309 p.Asn48Ser LB/B rs2295862 - OSTM1 Q86WC4 VAR_051257 p.Leu52Phe LB/B rs9480830 - OTC P00480 VAR_004843 p.Arg26Gln LP/P rs68031618 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004844 p.Gly39Cys LP/P rs72554306 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004845 p.Arg40Cys LP/P rs72554307 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004846 p.Arg40His LP/P rs72554308 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004847 p.Leu43Phe LB/B rs72554309 - OTC P00480 VAR_004848 p.Thr44Ile LP/P rs72554310 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004849 p.Leu45Pro LP/P rs72554312 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004850 p.Leu45Val LP/P rs72554311 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004851 p.Lys46Arg LB/B rs1800321 - OTC P00480 VAR_004852 p.Asn47Ile LP/P rs67939655 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004853 p.Gly50Arg LP/P rs67486158 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004854 p.Tyr55Asp LP/P rs72554319 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004855 p.Met56Thr LP/P rs72554320 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004856 p.Ser60Leu LP/P rs72554323 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004857 p.Leu63Pro LP/P rs72554324 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004858 p.Gly79Glu LP/P rs72554331 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004860 p.Gly83Asp LP/P rs72554337 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004861 p.Gly83Arg LP/P rs72554336 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004862 p.Glu87Lys LP/P rs72554338 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004863 p.Lys88Asn LP/P rs72554339 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004864 p.Ser90Arg LP/P rs72554342 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004865 p.Arg92Gln LP/P rs66550389 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004866 p.Thr93Ala LP/P rs72554344 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004867 p.Arg94Thr LP/P rs72554345 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004868 p.Gly100Asp LP/P rs72554349 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004869 p.Phe101Leu LB/B rs1133135 - OTC P00480 VAR_004870 p.Ala102Glu LP/P rs72554350 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004871 p.Leu111Pro LB/B rs1800324 - OTC P00480 VAR_004872 p.His117Leu LP/P rs66539573 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004873 p.His117Arg LP/P rs66539573 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004874 p.Thr125Met LP/P rs72554356 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004875 p.Asp126Gly LP/P rs72554358 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004876 p.Arg129His LP/P rs66656800 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004877 p.Leu139Ser LP/P rs72556259 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004878 p.Arg141Pro LP/P rs68026851 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004879 p.Arg141Gln LP/P rs68026851 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004880 p.Leu148Phe LP/P rs66741318 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004881 p.Ile159Thr LP/P rs72556269 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004882 p.Asn161Ser LP/P rs72556271 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004883 p.Gly162Arg LP/P rs66626662 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004884 p.His168Gln LP/P rs72556276 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004885 p.His168Arg LP/P rs66867430 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004886 p.Ile172Met LP/P rs72556280 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004887 p.Ala174Pro LP/P rs72556281 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004888 p.Asp175Val LP/P rs68033093 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004889 p.Tyr176Cys LP/P rs72556283 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004890 p.Thr178Met LP/P rs72556284 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004892 p.Gln180His LP/P rs72556287 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004893 p.Glu181Gly LP/P rs72556290 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004894 p.His182Leu LP/P rs72556291 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004895 p.Tyr183Cys LP/P rs72556293 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004896 p.Tyr183Asp LP/P rs72556292 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004897 p.Gly188Arg LP/P rs72556294 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004898 p.Ser192Arg LP/P rs72556298 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004899 p.Gly195Arg LP/P rs67294955 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004900 p.Asp196Val LP/P rs72556300 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004901 p.Asp196Tyr LP/P rs66642398 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004902 p.Gly197Glu LP/P rs72556302 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004903 p.Leu201Pro LP/P rs72558407 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004904 p.His202Tyr LP/P rs72558408 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004905 p.Ser203Cys LP/P rs72558410 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004906 p.Met206Arg LP/P rs72558412 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004907 p.Ser207Arg LP/P rs72558415 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004908 p.Ala208Thr LP/P rs72558416 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004909 p.Ala209Val LP/P rs72558417 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004910 p.Met213Lys LP/P - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004911 p.Gln216Glu LP/P rs72558423 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004912 p.Pro220Ala LP/P rs72558425 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004913 p.Pro225Leu LP/P rs67120076 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004914 p.Pro225Arg LP/P rs67120076 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004915 p.Pro225Thr LP/P rs72558428 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004916 p.Thr242Ile LP/P rs72558435 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004917 p.Leu244Gln LP/P rs72558436 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004918 p.Thr247Lys LP/P rs72558437 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004919 p.His255Pro LP/P rs72558440 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004920 p.Asp263Gly LP/P rs72558443 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004921 p.Asp263Asn LP/P rs72558442 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004922 p.Thr264Ala LP/P rs72558444 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004923 p.Thr264Ile LP/P rs67156896 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004924 p.Ser267Arg LP/P rs72558448 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004925 p.Met268Thr LP/P rs72558449 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004926 p.Gly269Glu LP/P rs72558450 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004927 p.Gln270Arg LB/B rs1800328 - OTC P00480 VAR_004929 p.Arg277Gln LP/P rs66724222 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004930 p.Arg277Trp LP/P rs72558454 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004931 p.His302Leu LP/P rs67993095 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004932 p.His302Gln LP/P rs67870244 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004933 p.His302Tyr LP/P rs72558463 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004934 p.Cys303Arg LP/P rs67468335 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004935 p.Cys303Tyr LP/P rs72558464 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004936 p.Leu304Phe LP/P rs72558465 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004938 p.Arg320Leu LP/P rs72558474 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004939 p.Arg330Gly LP/P rs72558478 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004940 p.Ala336Ser LP/P rs72558486 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004941 p.Val337Leu LP/P rs72558487 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004942 p.Val339Leu LP/P rs72558488 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004943 p.Ser340Pro LP/P rs72558489 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004944 p.Thr343Lys LP/P rs72558491 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004946 p.Tyr345Cys LP/P rs72558492 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004947 p.Tyr345Asp LP/P rs66469337 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004948 p.Phe354Cys LP/P rs72558495 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_009233 p.Ile172Phe LP/P rs72556279 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_009234 p.Gly188Val LP/P rs72556295 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_009235 p.Gly197Arg LP/P rs72556301 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_010605 p.Ala140Pro LP/P rs72556260 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_010606 p.Asn198Lys LP/P rs72558404 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_010607 p.His214Tyr LP/P rs72558420 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_010608 p.Thr262Lys LP/P rs67333670 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_010609 p.Trp265Leu LP/P rs72558446 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_010610 p.Glu326Lys LP/P rs72558476 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_012651 p.Ile160Ser LP/P rs67954347 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_012652 p.Leu191Phe LP/P rs72556296 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_012653 p.Met206Ile LP/P rs72558413 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_012654 p.Leu301Phe LP/P rs72558462 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_012655 p.Pro305His LP/P rs67501347 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_012656 p.Thr333Ala LB/B - - OTC P00480 VAR_012657 p.Leu341Pro LP/P rs72558490 Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTOF Q9HC10 VAR_028028 p.Arg818Trp LB/B rs2272070 - OTOF Q9HC10 VAR_028029 p.Pro1646Ser LB/B rs17005371 - OTOF Q9HC10 VAR_028030 p.Arg1680His LB/B rs11893228 - OTOF Q9HC10 VAR_032226 p.Ala53Val LB/B rs1879761 - OTOF Q9HC10 VAR_032227 p.Arg82Cys LB/B rs13031859 - OTOF Q9HC10 VAR_032228 p.Pro490Gln LP/P rs80356585 Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071] OTOF Q9HC10 VAR_032229 p.Ile515Thr LP/P rs80356586 Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071] OTOF Q9HC10 VAR_032229 p.Ile515Thr LP/P rs80356586 Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071] OTOF Q9HC10 VAR_032230 p.Val575Met LB/B rs55676840 - OTOF Q9HC10 VAR_032231 p.Arg773Ser LB/B - - OTOF Q9HC10 VAR_032232 p.Arg794His LP/P rs80356592 Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071] OTOF Q9HC10 VAR_032233 p.Arg822Trp LB/B rs80356570 - OTOF Q9HC10 VAR_032234 p.Leu1011Pro LP/P rs80356596 Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071] OTOF Q9HC10 VAR_032234 p.Leu1011Pro LP/P rs80356596 Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071] OTOF Q9HC10 VAR_032235 p.Ala1083Pro LB/B rs80356574 - OTOF Q9HC10 VAR_032236 p.Arg1157Gln LP/P rs56054534 Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071] OTOF Q9HC10 VAR_032237 p.Asp1322Glu LB/B rs80356576 - OTOF Q9HC10 VAR_032238 p.Val1625Met LB/B rs80356579 - OTOF Q9HC10 VAR_032239 p.Pro1825Ala LP/P rs28937591 Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071] OTOF Q9HC10 VAR_032240 p.Gly1888Asp LB/B rs80356583 - OTOF Q9HC10 VAR_032241 p.Arg1939Gln LP/P rs80356605 Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071] OTOF Q9HC10 VAR_032242 p.Pro1987Arg LP/P rs80356606 Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071] OTOF Q9HC10 VAR_035895 p.Glu1323Lys US rs546115388 A breast cancer sample OTOF Q9HC10 VAR_035896 p.Ile1547Val US - A breast cancer sample OTOF Q9HC10 VAR_046003 p.Gln255His LP/P rs397515611 Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071] OTOF Q9HC10 VAR_046004 p.Ala964Glu LP/P rs201329629 Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071] OTOF Q9HC10 VAR_046005 p.Leu1138Pro LP/P rs397515599 Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071] OTOF Q9HC10 VAR_046006 p.Arg1236Gln LB/B rs368633281 - OTOF Q9HC10 VAR_046007 p.Thr1688Lys LB/B - - OTOF Q9HC10 VAR_046008 p.Phe1795Cys LP/P rs397515606 Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071] OTOF Q9HC10 VAR_049057 p.Val1886Ala LB/B rs45442103 - OTOG Q6ZRI0 VAR_037406 p.Thr375Ser LB/B rs7130190 - OTOG Q6ZRI0 VAR_037407 p.Thr659Met LB/B rs7112749 - OTOG Q6ZRI0 VAR_037408 p.Ser692Pro LB/B rs7106548 - OTOG Q6ZRI0 VAR_037409 p.Ala919Thr LB/B rs2355466 - OTOG Q6ZRI0 VAR_037410 p.Arg1075Gln LB/B rs11024333 - OTOG Q6ZRI0 VAR_037411 p.Ala1112Val LB/B rs7936324 - OTOG Q6ZRI0 VAR_037412 p.Pro1129Leu LB/B rs7936354 - OTOG Q6ZRI0 VAR_037413 p.Ala1399Gly LB/B rs4491195 - OTOG Q6ZRI0 VAR_037414 p.Pro1646Leu LB/B rs1256306888 - OTOG Q6ZRI0 VAR_037415 p.Ala1832Val LB/B rs1003490 - OTOG Q6ZRI0 VAR_037416 p.Thr1947Met LB/B rs7111528 - OTOG Q6ZRI0 VAR_037417 p.Arg2750Gln LB/B rs12422210 - OTOG Q6ZRI0 VAR_037418 p.Trp2909Ser LB/B rs11024357 - OTOG Q6ZRI0 VAR_047262 p.Ala2006Val LB/B rs11024341 - OTOG Q6ZRI0 VAR_061161 p.Ala391Asp LB/B rs61611064 - OTOG Q6ZRI0 VAR_069250 p.Pro2116Leu LP/P rs397514607 Deafness, autosomal recessive, 18B (DFNB18B) [MIM:614945] OTOG Q6ZRI0 VAR_084731 p.Ile1089Val LB/B rs56359117 - OTOGL Q3ZCN5 VAR_038388 p.Cys2297Phe US - A breast cancer sample OTOGL Q3ZCN5 VAR_069040 p.Cys1387Arg LB/B rs768182016 - OTOL1 A6NHN0 VAR_042975 p.Glu470Ala LB/B rs3921595 - OTOP1 Q7RTM1 VAR_037755 p.Ile241Val LB/B rs28394859 - OTOP1 Q7RTM1 VAR_037756 p.Asp309Glu LB/B rs2916414 - OTOP1 Q7RTM1 VAR_037757 p.Val434Met LB/B rs11736799 - OTOP1 Q7RTM1 VAR_037758 p.Lys493Thr LB/B rs34666677 - OTOP1 Q7RTM1 VAR_037759 p.Gln516His LB/B rs35106142 - OTOP2 Q7RTS6 VAR_037760 p.Ala392Val US rs148548570 A colorectal cancer sample OTOP2 Q7RTS6 VAR_037761 p.Gly465Trp LB/B rs6501741 - OTOP3 Q7RTS5 VAR_037762 p.Arg64Gln LB/B rs7210616 - OTOP3 Q7RTS5 VAR_037763 p.Arg146Gln LB/B rs9890664 - OTOP3 Q7RTS5 VAR_037764 p.Ser199Pro LB/B rs1542752 - OTOP3 Q7RTS5 VAR_062217 p.Leu477Val LB/B rs35131040 - OTOR Q9NRC9 VAR_024537 p.Leu31Pro LB/B rs6135876 - OTOS Q8NHW6 VAR_020601 p.Pro7Leu LB/B rs35889242 - OTUD3 Q5T2D3 VAR_051258 p.Asn321Ser LB/B rs2298110 - OTUD3 Q5T2D3 VAR_051259 p.Ala333Thr LB/B rs10916668 - OTUD3 Q5T2D3 VAR_087061 p.Gly288Asp US - - OTUD4 Q01804 VAR_029377 p.Ala194Gly LB/B rs36225458 - OTUD4 Q01804 VAR_038848 p.Ala216Thr LB/B rs36225838 - OTUD4 Q01804 VAR_070050 p.Gly398Val US rs148857745 - OTUD5 Q96G74 VAR_085337 p.Asp256Asn LP/P - Multiple congenital anomalies-neurodevelopmental syndrome, X-linked (MCAND) [MIM:301056] OTUD5 Q96G74 VAR_085338 p.Arg274Trp LP/P rs2063805506 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked (MCAND) [MIM:301056] OTUD5 Q96G74 VAR_085339 p.Leu352Pro LP/P rs2063801903 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked (MCAND) [MIM:301056] OTUD5 Q96G74 VAR_085340 p.Arg404Trp US rs2063659512 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked (MCAND) [MIM:301056] OTUD5 Q96G74 VAR_085341 p.Gly494Ser LP/P - Multiple congenital anomalies-neurodevelopmental syndrome, X-linked (MCAND) [MIM:301056] OTUD5 Q96G74 VAR_085342 p.Arg520Trp US - Multiple congenital anomalies-neurodevelopmental syndrome, X-linked (MCAND) [MIM:301056] OTUD6B Q8N6M0 VAR_034144 p.Arg283Gln LB/B rs3210518 - OTUD6B Q8N6M0 VAR_080404 p.Tyr186Cys US rs1064797103 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (IDDFSDA) [MIM:617452] OTULIN Q96BN8 VAR_029469 p.Ser227Asn LB/B rs9312870 - OTULIN Q96BN8 VAR_053819 p.Met155Leu LB/B rs11953822 - OTULIN Q96BN8 VAR_053820 p.Asn311Ser LB/B rs9312870 - OTULIN Q96BN8 VAR_076865 p.Tyr244Cys LP/P rs886037887 Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) [MIM:617099] OTULIN Q96BN8 VAR_076865 p.Tyr244Cys LP/P rs886037887 Immunodeficiency 107, susceptibility to invasive Staphylococcus aureus infection (IMD107) [MIM:619986] OTULIN Q96BN8 VAR_076866 p.Leu272Pro LP/P rs886037885 Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) [MIM:617099] OTULIN Q96BN8 VAR_076866 p.Leu272Pro LP/P rs886037885 Immunodeficiency 107, susceptibility to invasive Staphylococcus aureus infection (IMD107) [MIM:619986] OTULIN Q96BN8 VAR_087550 p.Met86Ile LP/P - Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) [MIM:617099] OTULIN Q96BN8 VAR_087552 p.Gln115His LB/B rs147790160 - OTULIN Q96BN8 VAR_087553 p.Trp167Ser LP/P - Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) [MIM:617099] OTULIN Q96BN8 VAR_087554 p.Asp246Val LP/P - Immunodeficiency 107, susceptibility to invasive Staphylococcus aureus infection (IMD107) [MIM:619986] OTULIN Q96BN8 VAR_087555 p.Arg263Gln LP/P rs1332823115 Immunodeficiency 107, susceptibility to invasive Staphylococcus aureus infection (IMD107) [MIM:619986] OTULINL Q9NUU6 VAR_030281 p.Phe319Leu LB/B rs16903574 - OTX2 P32243 VAR_029354 p.Arg89Gly LP/P rs104894464 Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125] OTX2 P32243 VAR_029355 p.Pro133Thr LP/P rs376333965 Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125] OTX2 P32243 VAR_029356 p.Pro134Ala LP/P rs753783256 Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125] OTX2 P32243 VAR_065952 p.Arg90Ser LP/P - Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125] OTX2 P32243 VAR_065953 p.Asn225Ser LP/P rs370761964 Pituitary hormone deficiency, combined, 6 (CPHD6) [MIM:613986] OTX2 P32243 VAR_073793 p.Glu79Lys LP/P rs786205224 Retinal dystrophy, early-onset, with or without pituitary dysfunction (RDEOP) [MIM:610125] OTX2 P32243 VAR_078446 p.Pro134Arg US rs199761861 Pituitary hormone deficiency, combined, 6 (CPHD6) [MIM:613986] OVCH1 Q7RTY7 VAR_029089 p.Arg133Cys LB/B rs10843438 - OVCH1 Q7RTY7 VAR_029090 p.Trp228Gly LB/B rs967181 - OVCH1 Q7RTY7 VAR_029091 p.Lys330Glu LB/B rs3847680 - OVCH1 Q7RTY7 VAR_029092 p.Thr444Ile LB/B rs7975356 - OVCH1 Q7RTY7 VAR_029093 p.Ser672Phe LB/B rs11050243 - OVCH1 Q7RTY7 VAR_029094 p.Gly754Arg LB/B rs12305672 - OVCH1 Q7RTY7 VAR_029095 p.Ala881Pro LB/B rs1347570 - OVCH1 Q7RTY7 VAR_029096 p.Pro934Ser LB/B rs7967676 - OVCH1 Q7RTY7 VAR_057159 p.Leu557Val LB/B rs35183403 - OVCH2 Q7RTZ1 VAR_029097 p.Arg19Gln LB/B rs7927138 - OVCH2 Q7RTZ1 VAR_029098 p.Pro292Ser LB/B rs10839849 - OVCH2 Q7RTZ1 VAR_029099 p.Gly381Glu LB/B rs3925028 - OVCH2 Q7RTZ1 VAR_029100 p.Asn410Thr LB/B rs4528317 - OVCH2 Q7RTZ1 VAR_029101 p.Arg413Gly LB/B rs3925027 - OVCH2 Q7RTZ1 VAR_029102 p.His526Gln LB/B rs4519083 - OVCH2 Q7RTZ1 VAR_029103 p.Thr539Ile LB/B rs4633461 - OVCH2 Q7RTZ1 VAR_057160 p.Asn410Tyr LB/B rs4528317 - OVCH2 Q7RTZ1 VAR_059786 p.Thr24Ala LB/B rs12289558 - OVGP1 Q12889 VAR_016109 p.Glu676Gln LB/B rs7825 - OVGP1 Q12889 VAR_024459 p.Met477Thr LB/B rs2485319 - OVGP1 Q12889 VAR_024460 p.His604Gln LB/B rs10067 - OVGP1 Q12889 VAR_035752 p.Leu662His US - A colorectal cancer sample OVGP1 Q12889 VAR_049199 p.Asp332Glu LB/B rs17027633 - OVGP1 Q12889 VAR_049200 p.Met479Val LB/B rs3767607 - OVGP1 Q12889 VAR_049201 p.Tyr514His LB/B rs1126656 - OVGP1 Q12889 VAR_049202 p.Ser536Gly LB/B rs3767609 - OVGP1 Q12889 VAR_061190 p.Pro526Ser LB/B rs12096782 - OXA1L Q15070 VAR_014932 p.Ala44Val LB/B rs8572 - OXA1L Q15070 VAR_014933 p.Val91Ile LB/B rs17619 - OXCT1 P55809 VAR_000695 p.Thr58Met LB/B rs75134564 - OXCT1 P55809 VAR_000696 p.Val133Glu LP/P rs267606930 Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_000697 p.Cys456Phe LP/P rs121909300 Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_010337 p.Gly219Glu LP/P rs121909302 Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_010338 p.Val221Met LP/P rs121909303 Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_010339 p.Gly324Glu LP/P rs121909301 Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_065564 p.Ala215Val LP/P rs201752548 Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_065565 p.Ser226Asn LP/P rs368841359 Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_065566 p.Leu327Pro LP/P - Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_065567 p.Val404Phe LP/P - Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_065568 p.Ser405Pro LP/P - Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_065569 p.Arg468Cys LP/P rs1327401976 Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_085803 p.Val245Phe US rs727504063 Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_085804 p.Ile270Lys US rs886043862 Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_085805 p.Glu280Ala US - Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_085806 p.Val437Met US - Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050] OXCT2 Q9BYC2 VAR_059134 p.Glu250Asp LB/B rs7542609 - OXCT2 Q9BYC2 VAR_059135 p.Leu285Arg LB/B rs230321 - OXER1 Q8TDS5 VAR_023940 p.Leu368Val LB/B rs2278586 - OXER1 Q8TDS5 VAR_049428 p.Met277Leu LB/B rs17029947 - OXGR1 Q96P68 VAR_088608 p.Tyr93His US - Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis (CAON2) [MIM:620374] OXGR1 Q96P68 VAR_088609 p.Leu124Arg LP/P - Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis (CAON2) [MIM:620374] OXGR1 Q96P68 VAR_088610 p.Cys217Arg US - Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis (CAON2) [MIM:620374] OXGR1 Q96P68 VAR_088611 p.Ser233Arg US - Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis (CAON2) [MIM:620374] OXGR1 Q96P68 VAR_088612 p.Ser287Phe US - Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis (CAON2) [MIM:620374] OXNAD1 Q96HP4 VAR_034855 p.Arg59Gln LB/B rs17042066 - OXNAD1 Q96HP4 VAR_034856 p.Ser64Ala LB/B rs842274 - OXNAD1 Q96HP4 VAR_034857 p.Arg82Cys LB/B rs6777976 - OXR1 Q8N573 VAR_025861 p.Glu100Gly LB/B rs28921397 - OXR1 Q8N573 VAR_025862 p.Gln360Pro LB/B rs28921419 - OXR1 Q8N573 VAR_025863 p.Lys516Arg LB/B rs28921420 - OXSM Q9NWU1 VAR_036064 p.Phe106Ile US - A breast cancer sample OXSR1 O95747 VAR_023232 p.Thr304Ile LB/B rs6599079 - OXSR1 O95747 VAR_025181 p.Ser425Thr LB/B rs35295772 - OXSR1 O95747 VAR_040969 p.Pro433Ser US - A metastatic melanoma sample OXTR P30559 VAR_031570 p.Ala16Ser LB/B rs237906 - OXTR P30559 VAR_031571 p.Ala218Thr LB/B rs4686302 - P2RX1 P51575 VAR_053552 p.Met396Val LB/B rs34617528 - P2RX2 Q9UBL9 VAR_070687 p.Val60Leu LP/P rs587777692 Deafness, autosomal dominant, 41 (DFNA41) [MIM:608224] P2RX2 Q9UBL9 VAR_070688 p.Gly353Arg LP/P rs202138002 Deafness, autosomal dominant, 41 (DFNA41) [MIM:608224] P2RX3 P56373 VAR_034674 p.Ala383Val LB/B rs2276038 - P2RX4 Q99571 VAR_014942 p.Ser242Gly LB/B rs25644 - P2RX4 Q99571 VAR_028307 p.Ala6Ser LB/B rs1044249 - P2RX4 Q99571 VAR_079856 p.Gly3Cys LB/B rs200492184 - P2RX4 Q99571 VAR_079857 p.Gly135Ser LB/B rs765866317 - P2RX4 Q99571 VAR_079858 p.Tyr315Cys LB/B rs28360472 - P2RX6 O15547 VAR_020338 p.Arg242His LB/B rs2277838 - P2RX6 O15547 VAR_057664 p.Val38Gly LB/B rs2006846 - P2RX7 Q99572 VAR_019648 p.Arg270His LB/B rs7958311 - P2RX7 Q99572 VAR_019649 p.Tyr155His LB/B rs208294 - P2RX7 Q99572 VAR_019650 p.Thr357Ser LB/B rs2230911 - P2RX7 Q99572 VAR_019651 p.Gln460Arg LB/B rs2230912 - P2RX7 Q99572 VAR_019652 p.Glu496Ala LB/B rs3751143 - P2RX7 Q99572 VAR_036444 p.Asn25Ser US - A colorectal cancer sample P2RX7 Q99572 VAR_036445 p.Arg574Leu US - A colorectal cancer sample P2RX7 Q99572 VAR_057665 p.Val76Ala LB/B rs17525809 - P2RX7 Q99572 VAR_057666 p.Gly150Arg LB/B rs28360447 - P2RX7 Q99572 VAR_057667 p.Arg270Cys LB/B rs16950860 - P2RX7 Q99572 VAR_057668 p.Arg276His LB/B rs7958316 - P2RX7 Q99572 VAR_057669 p.Arg307Gln LB/B rs28360457 - P2RX7 Q99572 VAR_057670 p.Ala348Thr LB/B rs1718119 - P2RX7 Q99572 VAR_057671 p.Pro430Arg LB/B rs10160951 - P2RX7 Q99572 VAR_057672 p.Ala433Val LB/B rs28360459 - P2RX7 Q99572 VAR_057673 p.His521Gln LB/B rs2230913 - P2RX7 Q99572 VAR_057674 p.Val522Ile LB/B rs34219304 - P2RX7 Q99572 VAR_057675 p.Arg578Gln LB/B rs28360460 - P2RX7 Q99572 VAR_068011 p.Ile568Asn LB/B rs1653624 - P2RX7 Q99572 VAR_079880 p.Arg117Trp LB/B rs28360445 - P2RX7 Q99572 VAR_079881 p.Arg125Leu LB/B rs201668926 - P2RX7 Q99572 VAR_079882 p.Gln148Arg LB/B rs150235326 - P2RX7 Q99572 VAR_079883 p.Thr205Met LB/B rs140915863 - P2RX7 Q99572 VAR_079884 p.Arg264His LB/B rs149639375 - P2RX7 Q99572 VAR_079885 p.Tyr288His LB/B rs146725537 - P2RX7 Q99572 VAR_079886 p.Asn361Ser LB/B rs201921967 - P2RX7 Q99572 VAR_079887 p.Ala535Val LB/B rs201256156 - P2RX7 Q99572 VAR_079888 p.Arg544Gln LB/B rs34567077 - P2RY10 O00398 VAR_033481 p.Asn3His LB/B rs6618868 - P2RY11 Q96G91 VAR_020074 p.Ala87Thr LB/B rs3745601 - P2RY12 Q9H244 VAR_025383 p.Arg256Gln LP/P rs121917885 Bleeding disorder, platelet-type, 8 (BDPLT8) [MIM:609821] P2RY12 Q9H244 VAR_025384 p.Arg265Trp LP/P rs121917886 Bleeding disorder, platelet-type, 8 (BDPLT8) [MIM:609821] P2RY12 Q9H244 VAR_049431 p.Glu330Gly LB/B rs16846673 - P2RY12 Q9H244 VAR_072802 p.His187Gln LP/P - Bleeding disorder, platelet-type, 8 (BDPLT8) [MIM:609821] P2RY13 Q9BPV8 VAR_028299 p.Thr179Met LB/B rs1466684 - P2RY14 Q15391 VAR_035767 p.Leu140Pro US - A colorectal cancer sample P2RY2 P41231 VAR_054870 p.Pro46Leu LB/B rs2511241 - P2RY2 P41231 VAR_054871 p.Arg312Ser LB/B rs3741156 - P2RY2 P41231 VAR_054872 p.Arg334Cys LB/B rs1626154 - P2RY4 P51582 VAR_011854 p.Val168Met LB/B rs1152186 - P2RY4 P51582 VAR_011855 p.Asn178Thr LB/B rs1152187 - P2RY4 P51582 VAR_011856 p.Pro191Leu LB/B rs1152188 - P2RY4 P51582 VAR_049429 p.Ser234Ala LB/B rs3829709 - P3H1 Q32P28 VAR_033252 p.Gly349Arg LB/B rs6700677 - P3H1 Q32P28 VAR_033253 p.Pro506Arg LB/B rs3738501 - P3H1 Q32P28 VAR_033254 p.Met549Ile LB/B rs11581921 - P3H1 Q32P28 VAR_050442 p.Gln644Lys LB/B rs3738497 - P3H2 Q8IVL5 VAR_036123 p.Asp613Asn US - A breast cancer sample P3H2 Q8IVL5 VAR_066637 p.Gly508Val LP/P rs724159988 Myopia, high, with cataract and vitreoretinal degeneration (MCVD) [MIM:614292] P3H3 Q8IVL6 VAR_050443 p.Thr301Ala LB/B rs10744716 - P3H3 Q8IVL6 VAR_050444 p.Arg304Cys LB/B rs35359746 - P3H3 Q8IVL6 VAR_050445 p.Gly385Glu LB/B rs1047771 - P3H3 Q8IVL6 VAR_050446 p.Ile685Thr LB/B rs1129649 - P3H3 Q8IVL6 VAR_050447 p.Met705Thr LB/B rs3213431 - P3H4 Q92791 VAR_020417 p.Gln186Arg LB/B rs13412 - P4HA2 O15460 VAR_074026 p.Gln140Arg LP/P rs764211125 Myopia 25, autosomal dominant (MYP25) [MIM:617238] P4HA2 O15460 VAR_074027 p.Ile150Val US rs771208496 Myopia 25, autosomal dominant (MYP25) [MIM:617238] P4HA2 O15460 VAR_074028 p.Glu291Lys LP/P rs758872875 Myopia 25, autosomal dominant (MYP25) [MIM:617238] P4HA3 Q7Z4N8 VAR_038675 p.Asp400Asn LB/B rs2282488 - P4HB P07237 VAR_073440 p.Tyr393Cys LP/P rs786204843 Cole-Carpenter syndrome 1 (CLCRP1) [MIM:112240] P4HTM Q9NXG6 VAR_082950 p.His161Pro LP/P rs1576606484 Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (HIDEA) [MIM:618493] PAAF1 Q9BRP4 VAR_026415 p.Ala53Val LB/B rs17850051 - PAAF1 Q9BRP4 VAR_026416 p.Ala209Gly LB/B rs3741138 - PAAF1 Q9BRP4 VAR_032082 p.Cys139Ser LB/B rs2067912 - PABPC1L Q4VXU2 VAR_054047 p.Ser212Ala LB/B rs2075960 - PABPC1L Q4VXU2 VAR_060184 p.Ser492Gly LB/B rs6513956 - PABPC4 Q13310 VAR_054048 p.Tyr382Phe LB/B rs9820 - PABPC4L P0CB38 VAR_060185 p.Val192Ile LB/B rs10009368 - PABPC4L P0CB38 VAR_060186 p.Ser331Asn LB/B rs6830036 - PABPC4L P0CB38 VAR_060187 p.His370Pro LB/B rs11099273 - PABPC5 Q96DU9 VAR_054049 p.Asn314Ser LB/B rs7050077 - PACC1 Q9H813 VAR_035847 p.Lys336Asn US rs1034429230 A breast cancer sample PACS1 Q6VY07 VAR_053797 p.Phe302Leu LB/B rs12798852 - PACS1 Q6VY07 VAR_069534 p.Arg203Trp LP/P rs398123009 Schuurs-Hoeijmakers syndrome (SHMS) [MIM:615009] PACS2 Q86VP3 VAR_028947 p.Thr185Ala LB/B rs8010888 - PACS2 Q86VP3 VAR_053798 p.Leu493Ser LB/B rs4076933 - PACS2 Q86VP3 VAR_081137 p.Glu209Lys LP/P rs1555408401 Developmental and epileptic encephalopathy 66 (DEE66) [MIM:618067] PACSIN1 Q9BY11 VAR_053554 p.Ala334Val LB/B rs41312309 - PACSIN2 Q9UNF0 VAR_013711 p.Met294Ile LB/B rs2746984 - PACSIN2 Q9UNF0 VAR_013712 p.Val324Phe LB/B rs1062913 - PACSIN2 Q9UNF0 VAR_053555 p.Asn175Ser LB/B rs35383004 - PACSIN3 Q9UKS6 VAR_053556 p.Ala61Val LB/B rs7106654 - PADI1 Q9ULC6 VAR_053557 p.Val649Met LB/B rs16824215 - PADI3 Q9ULW8 VAR_020462 p.Ile52Val LB/B rs3750300 - PADI3 Q9ULW8 VAR_020463 p.Val171Met LB/B rs2272629 - PADI3 Q9ULW8 VAR_035502 p.Gly509Arg US rs781009577 A breast cancer sample PADI3 Q9ULW8 VAR_053558 p.Ala582Thr LB/B rs34097903 - PADI3 Q9ULW8 VAR_053559 p.Arg618Gln LB/B rs35624745 - PADI3 Q9ULW8 VAR_078023 p.Leu112His LP/P rs142129409 Uncombable hair syndrome 1 (UHS1) [MIM:191480] PADI3 Q9ULW8 VAR_078024 p.Ala294Val LP/P rs144080386 Uncombable hair syndrome 1 (UHS1) [MIM:191480] PADI3 Q9ULW8 VAR_078025 p.Pro605Thr LP/P rs144944758 Uncombable hair syndrome 1 (UHS1) [MIM:191480] PADI4 Q9UM07 VAR_020639 p.Gly55Ser LB/B rs11203366 - PADI4 Q9UM07 VAR_020640 p.Val82Ala LB/B rs11203367 - PADI4 Q9UM07 VAR_020641 p.Gly112Ala LB/B rs874881 - PADI4 Q9UM07 VAR_020642 p.Ser275Phe LB/B rs1748020 - PADI4 Q9UM07 VAR_027401 p.Asp89Asn LB/B rs143187209 - PADI4 Q9UM07 VAR_027402 p.Pro102Thr LB/B rs34309058 - PADI4 Q9UM07 VAR_027403 p.Arg131Thr LB/B rs12733102 - PADI4 Q9UM07 VAR_027404 p.Met164Thr LB/B rs11588132 - PADI4 Q9UM07 VAR_053560 p.Arg8His LB/B rs35381732 - PADI4 Q9UM07 VAR_053561 p.Thr79Met LB/B rs35809521 - PADI4 Q9UM07 VAR_053562 p.Asp260Asn LB/B rs35903413 - PADI6 Q6TGC4 VAR_078106 p.His211Gln LP/P rs775156958 Oocyte/zygote/embryo maturation arrest 16 (OZEMA16) [MIM:617234] PADI6 Q6TGC4 VAR_078107 p.Gly540Arg LP/P rs1057517684 Oocyte/zygote/embryo maturation arrest 16 (OZEMA16) [MIM:617234] PAEP P09466 VAR_034355 p.Gln126Lys LB/B rs3748210 - PAEP P09466 VAR_050178 p.Leu28Val LB/B rs34284195 - PAFAH1B1 P43034 VAR_007724 p.His149Arg LP/P rs121434482 Lissencephaly 1 (LIS1) [MIM:607432] PAFAH1B1 P43034 VAR_010203 p.Ser169Pro LP/P rs121434484 Subcortical band heterotopia (SBH) [MIM:607432] PAFAH1B1 P43034 VAR_015398 p.Phe31Ser LP/P rs121434486 Lissencephaly 1 (LIS1) [MIM:607432] PAFAH1B1 P43034 VAR_015399 p.Gly162Ser LP/P rs121434487 Lissencephaly 1 (LIS1) [MIM:607432] PAFAH1B1 P43034 VAR_015400 p.Asp317His LP/P rs121434485 Lissencephaly 1 (LIS1) [MIM:607432] PAFAH1B1 P43034 VAR_037300 p.Arg241Pro LP/P rs121434488 Subcortical band heterotopia (SBH) [MIM:607432] PAFAH1B1 P43034 VAR_037301 p.His277Pro LP/P rs121434490 Lissencephaly 1 (LIS1) [MIM:607432] PAFAH1B3 Q15102 VAR_051261 p.Arg214Gly LB/B rs1043818 - PAGE1 O75459 VAR_027767 p.Leu75Pro LB/B rs1055197 - PAGE2 Q7Z2X7 VAR_053099 p.Leu5Val LB/B rs1845444 - PAGE3 Q5JUK9 VAR_027097 p.Asn35Asp LB/B rs4826381 - PAGE3 Q5JUK9 VAR_027098 p.Gly53Ser LB/B rs2296807 - PAH P00439 VAR_000869 p.Ser16Pro US rs62642946 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000870 p.Phe39Leu LP/P rs62642926 Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_000870 p.Phe39Leu LP/P rs62642926 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000872 p.Ser40Leu LP/P rs62642938 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000873 p.Leu41Phe LP/P rs62642928 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000874 p.Lys42Ile LP/P rs62635346 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000875 p.Gly46Ser LP/P rs74603784 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000876 p.Ala47Val LP/P rs118203925 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000877 p.Leu48Ser LP/P rs5030841 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000878 p.Arg53His LP/P rs118092776 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000879 p.Phe55Leu LP/P rs199475598 Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_000879 p.Phe55Leu LP/P rs199475598 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000880 p.Glu56Asp LP/P rs199475567 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000882 p.Ile65Asn LP/P rs75193786 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000883 p.Ile65Thr LP/P rs75193786 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000884 p.Ser67Pro LP/P rs5030842 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000885 p.Arg68Ser LP/P rs76394784 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000886 p.Glu76Ala LP/P rs62507347 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000887 p.Asp84Tyr LP/P rs62514902 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000888 p.Ser87Arg LP/P rs62516151 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000889 p.Thr92Ile LP/P rs62514903 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000891 p.Leu98Ser LP/P rs62517167 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000892 p.Ala104Asp LP/P rs62642929 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000893 p.Thr124Ile LP/P rs199475571 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000894 p.Asp129Tyr LP/P rs199475606 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000895 p.Asp143Gly LP/P rs199475572 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000896 p.His146Tyr LP/P rs199475599 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000897 p.Gly148Ser LP/P rs80297647 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000898 p.Asp151His LP/P rs199475597 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000899 p.Tyr154Asn LP/P rs199475587 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000900 p.Arg157Asn LP/P rs1565853495 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000901 p.Arg158Gln LP/P rs5030843 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000902 p.Arg158Trp LP/P rs75166491 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000903 p.Gln160Pro LP/P rs199475601 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000904 p.Phe161Ser LP/P rs79635844 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000905 p.Ile164Thr LP/P rs199475595 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000906 p.Asn167Ile LP/P rs77554925 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000907 p.His170Arg LP/P rs199475573 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000908 p.Gly171Ala LP/P rs199475596 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000909 p.Gly171Arg LP/P rs199475613 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000910 p.Pro173Thr LP/P rs199475574 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000911 p.Ile174Thr LP/P rs138809906 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000912 p.Pro175Ala LP/P rs199475604 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000913 p.Arg176Leu LP/P rs74486803 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000913 p.Arg176Leu LP/P rs74486803 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000914 p.Arg176Pro LP/P rs74486803 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000915 p.Val177Leu LP/P rs199475602 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000916 p.Glu178Gly LP/P rs77958223 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000917 p.Val190Ala LP/P rs62514919 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000918 p.Leu194Pro LP/P rs5030844 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000922 p.His201Arg LP/P rs62517180 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000923 p.His201Tyr LP/P rs62517205 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000924 p.Tyr204Cys LP/P rs62514927 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000925 p.Tyr206Asp LP/P rs62517170 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000926 p.Asn207Asp LP/P rs62508572 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000927 p.Asn207Ser LP/P rs62508721 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000928 p.Pro211Thr LP/P rs62514931 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000929 p.Leu212Pro LP/P rs62517198 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000930 p.Leu213Pro LP/P rs62516109 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000931 p.Cys217Gly LP/P rs62508718 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000932 p.Gly218Val LP/P rs62514933 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000933 p.Glu221Gly LP/P rs62514934 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000934 p.Asp222Val LP/P rs62507319 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000935 p.Ile224Met LP/P rs199475576 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000936 p.Pro225Arg LP/P rs62517204 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000937 p.Pro225Thr LP/P rs199475589 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000938 p.Val230Ile LP/P rs62516152 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000938 p.Val230Ile LP/P rs62516152 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000939 p.Ser231Pro LP/P rs5030845 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000940 p.Phe233Leu LP/P rs62517208 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000941 p.Thr238Pro LP/P rs199475577 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000942 p.Gly239Ser LP/P rs62517178 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000943 p.Arg241Cys LP/P rs76687508 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000943 p.Arg241Cys LP/P rs76687508 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000944 p.Arg241His LP/P rs62508730 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000945 p.Arg241Leu LP/P rs62508730 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000946 p.Leu242Phe LP/P rs199475578 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000947 p.Arg243Gln LP/P rs62508588 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000947 p.Arg243Gln LP/P rs62508588 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000948 p.Pro244Leu LP/P rs118203923 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000949 p.Val245Ala LP/P rs796052017 Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_000949 p.Val245Ala LP/P rs796052017 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000949 p.Val245Ala LP/P rs796052017 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000950 p.Val245Glu LP/P rs76212747 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000951 p.Val245Leu LP/P rs62508694 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000952 p.Ala246Asp LP/P rs199475610 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000953 p.Gly247Val LP/P rs199475579 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000954 p.Leu248Pro LP/P rs62507340 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000955 p.Leu249Phe LP/P rs74503222 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000956 p.Arg252Gly LP/P rs5030847 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000957 p.Arg252Gln LP/P rs62644503 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000958 p.Arg252Trp LP/P rs5030847 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000959 p.Leu255Val LP/P rs62642931 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000960 p.Leu255Ser LP/P rs62642930 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000961 p.Gly257Cys LP/P rs5030848 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000962 p.Ala259Thr LP/P rs62642932 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000963 p.Ala259Val LP/P rs118203921 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000964 p.Arg261Pro LP/P rs5030849 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000965 p.Arg261Gln LP/P rs5030849 Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_000965 p.Arg261Gln LP/P rs5030849 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000966 p.Phe263Leu LP/P rs62642944 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000967 p.His264Leu LP/P rs199475580 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000968 p.Cys265Gly LP/P rs62517181 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000969 p.Ile269Leu LP/P rs62508692 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000970 p.Arg270Lys LP/P rs62514950 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000971 p.Arg270Ser LP/P rs62514951 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000972 p.His271Tyr LP/P rs62517164 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000973 p.Ser273Phe LP/P rs62514953 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000974 p.Met276Ile LP/P rs62514954 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000975 p.Met276Val LP/P rs62516149 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000976 p.Tyr277Cys LP/P rs62516155 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000977 p.Tyr277Asp LP/P rs78655458 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000978 p.Thr278Ala LP/P rs62516156 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000979 p.Thr278Asn LP/P rs62507262 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000980 p.Glu280Lys LP/P rs62508698 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000981 p.Pro281Leu LP/P rs5030851 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000982 p.Asp282Asn LP/P rs199475582 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000983 p.Ile283Phe LP/P rs62517168 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000984 p.Ile283Asn LP/P rs62508693 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000985 p.Arg297Cys LP/P rs62642945 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000986 p.Arg297His LP/P rs62642939 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000987 p.Phe299Cys LP/P rs62642933 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000988 p.Ala300Ser LP/P rs5030853 Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_000988 p.Ala300Ser LP/P rs5030853 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000989 p.Ala300Val LP/P rs199475609 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000990 p.Ser303Pro LP/P rs199475608 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000991 p.Gln304Arg LP/P rs199475592 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000992 p.Ile306Val LP/P rs62642934 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000992 p.Ile306Val LP/P rs62642934 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000993 p.Ala309Asp LP/P rs62642935 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000994 p.Ala309Val LP/P rs62642935 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000995 p.Ser310Phe LP/P rs62642913 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000996 p.Leu311Pro LP/P rs62642936 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000997 p.Pro314His LP/P rs62642940 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000998 p.Ala322Gly LP/P rs62514958 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000999 p.Ala322Thr LP/P rs62514957 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001000 p.Phe331Leu LP/P rs62517179 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001001 p.Leu333Phe LP/P rs62516060 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001002 p.Cys334Ser LP/P rs62517174 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001003 p.Gly337Val LP/P rs62517206 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001004 p.Asp338Tyr LP/P rs62516150 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001005 p.Lys341Arg LP/P rs62516153 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001006 p.Lys341Thr LP/P rs62516153 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001007 p.Ala342Thr LP/P rs62507282 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001008 p.Tyr343Cys LP/P rs62507265 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001009 p.Ala345Ser LP/P rs62516062 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001010 p.Ala345Thr LP/P rs62516062 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001011 p.Leu347Phe LP/P rs62516154 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001012 p.Leu348Val LP/P rs62516092 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001013 p.Ser349Leu LP/P rs62507279 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001014 p.Ser349Pro LP/P rs62508646 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001015 p.Ser350Thr LP/P rs62517183 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001016 p.Pro362Thr LP/P rs62507329 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001019 p.Pro366His LP/P rs62516098 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001020 p.Thr372Ser LP/P rs62517163 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001021 p.Tyr377Cys LP/P rs62642942 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001022 p.Thr380Met LP/P rs62642937 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_001022 p.Thr380Met LP/P rs62642937 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001023 p.Tyr386Cys LP/P rs62516141 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001024 p.Tyr387His LP/P rs62517194 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001025 p.Val388Leu LP/P rs62516101 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001026 p.Val388Met LP/P rs62516101 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001027 p.Glu390Gly LP/P rs5030856 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_001027 p.Glu390Gly LP/P rs5030856 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001028 p.Asp394Ala LP/P rs62516102 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001029 p.Asp394His LP/P rs62516142 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001030 p.Ala395Gly LP/P rs62508736 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001031 p.Ala395Pro LP/P rs62516103 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001033 p.Ala403Val LP/P rs5030857 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_001033 p.Ala403Val LP/P rs5030857 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001034 p.Arg408Gln LP/P rs5030859 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001035 p.Arg408Trp LP/P rs5030858 Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_001035 p.Arg408Trp LP/P rs5030858 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001036 p.Arg413Pro LP/P rs79931499 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_001036 p.Arg413Pro LP/P rs79931499 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001037 p.Arg413Ser LP/P rs62644467 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001038 p.Tyr414Cys LP/P rs5030860 Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_001038 p.Tyr414Cys LP/P rs5030860 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001039 p.Asp415Asn LP/P rs62644499 Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_001039 p.Asp415Asn LP/P rs62644499 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_001039 p.Asp415Asn LP/P rs62644499 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001040 p.Thr418Pro LP/P rs62644501 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001041 p.Leu430Pro LP/P rs199475607 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001042 p.Ala447Asp LP/P rs76542238 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009239 p.Gln20Leu LP/P rs199475662 Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_009240 p.Leu41Pro LP/P rs62642916 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009241 p.Ser110Cys LP/P - Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_009242 p.Arg155Pro LP/P rs199475663 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009243 p.Glu183Gln LP/P rs199475664 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009244 p.Ser231Phe LP/P rs62508577 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009245 p.Tyr325Cys LP/P rs62508578 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009246 p.Glu330Asp LP/P rs62508580 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009247 p.Gly344Arg LP/P rs62508679 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009248 p.Gly344Val LP/P rs62508582 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009249 p.Phe410Ser LP/P rs62644475 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011566 p.Asp145Val LP/P rs140175796 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011567 p.Asn167Ser LP/P rs77554925 Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_011568 p.Arg169His LP/P rs199475679 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011569 p.His170Asp LP/P rs199475655 Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_011570 p.Ile174Val LP/P rs199475632 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011571 p.Glu205Ala LP/P rs62508593 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011572 p.Phe240Ser LP/P rs62508594 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011573 p.Lys274Glu LP/P rs142934616 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011574 p.Ile318Thr LP/P rs62642918 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011575 p.Cys357Gly LP/P rs62508595 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011576 p.Pro407Ser LP/P rs62644465 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_067758 p.His290Tyr LP/P rs1486763160 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_067759 p.Ala322Val LP/P rs62514958 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_067760 p.Ile421Ser LP/P rs199475696 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_067994 p.Val45Ala LP/P rs1592988883 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_067995 p.Asn61Asp LP/P rs199475651 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_067996 p.Leu62Pro LP/P rs1877437661 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_067997 p.Ile65Ser LP/P rs75193786 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_067998 p.Ile65Val LP/P rs199475643 Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_067998 p.Ile65Val LP/P rs199475643 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_067999 p.Glu76Gly LP/P rs62507347 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_068000 p.Arg157Ser LP/P rs199475612 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_068001 p.His170Gln LP/P rs199475652 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_068002 p.Val177Met LP/P rs199475602 Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_068003 p.Gln226His LP/P rs62508615 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_068004 p.Pro275Leu LP/P rs62508715 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_068005 p.Ser310Tyr LP/P rs62642913 Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_068006 p.Pro314Ser LP/P rs199475650 Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_068007 p.Pro407Leu LP/P rs62644473 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_068008 p.Tyr417His LP/P rs62644471 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_069776 p.Phe121Leu LP/P - Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_069777 p.Ser196Tyr LP/P rs865899394 Hyperphenylalaninemia (HPA) [MIM:261600] PAICS P22234 VAR_051884 p.Lys201Asn LB/B rs11549976 - PAICS P22234 VAR_085931 p.Lys53Arg US rs192831239 Phosphoribosylaminoimidazole carboxylase deficiency (PAICSD) [MIM:619859] PAK1 Q13153 VAR_051654 p.Leu515Val LB/B rs35345144 - PAK1 Q13153 VAR_081554 p.Tyr131Cys LP/P rs1565638316 Intellectual developmental disorder with macrocephaly, seizures, and speech delay (IDDMSSD) [MIM:618158] PAK1 Q13153 VAR_081555 p.Tyr429Cys LP/P rs1565583382 Intellectual developmental disorder with macrocephaly, seizures, and speech delay (IDDMSSD) [MIM:618158] PAK2 Q13177 VAR_087512 p.Glu435Lys LP/P - Knobloch syndrome 2 (KNO2) [MIM:618458] PAK3 O75914 VAR_023825 p.Arg67Cys LP/P rs121434612 Intellectual developmental disorder, X-linked 30 (XLID30) [MIM:300558] PAK3 O75914 VAR_023826 p.Ala380Glu LP/P rs121434613 Intellectual developmental disorder, X-linked 30 (XLID30) [MIM:300558] PAK3 O75914 VAR_046764 p.Thr440Ser US - A colorectal adenocarcinoma sample PAK4 O96013 VAR_040970 p.Arg135Gln LB/B rs56099436 - PAK4 O96013 VAR_040971 p.Ala139Thr LB/B rs35655056 - PAK5 Q9P286 VAR_021865 p.Ser511Asn LB/B rs2297345 - PAK5 Q9P286 VAR_040978 p.Gly118Asp LB/B rs55923311 - PAK5 Q9P286 VAR_040979 p.Pro187Ala LB/B rs34280805 - PAK5 Q9P286 VAR_040980 p.Ser312Pro US rs952665081 A colorectal adenocarcinoma sample PAK5 Q9P286 VAR_040981 p.Arg335Pro LB/B rs11700112 - PAK5 Q9P286 VAR_040982 p.Thr538Asn US - A lung adenocarcinoma sample PAK5 Q9P286 VAR_040983 p.Ala555Ser LB/B rs34102290 - PAK5 Q9P286 VAR_040984 p.Val604Ile US - A metastatic melanoma sample PAK5 Q9P286 VAR_040985 p.Gly704Ser US rs1484691555 A metastatic melanoma sample PAK6 Q9NQU5 VAR_019993 p.Met76Val LB/B rs2412504 - PAK6 Q9NQU5 VAR_019994 p.His215Arg LB/B rs3743135 - PAK6 Q9NQU5 VAR_019995 p.Pro337Leu LB/B rs3743137 - PAK6 Q9NQU5 VAR_035631 p.Arg3His US rs201346085 A colorectal cancer sample PAK6 Q9NQU5 VAR_040972 p.Glu184Lys LB/B rs56349744 - PAK6 Q9NQU5 VAR_040973 p.Gly205Glu LB/B rs55920845 - PAK6 Q9NQU5 VAR_040974 p.Pro208Thr LB/B rs35501648 - PAK6 Q9NQU5 VAR_040975 p.Thr210Met LB/B rs34869667 - PAK6 Q9NQU5 VAR_040976 p.Ala376Val LB/B rs55806501 - PAK6 Q9NQU5 VAR_040977 p.Leu514Arg US - A lung small cell carcinoma sample PAK6 Q9NQU5 VAR_051655 p.Arg103Cys LB/B rs36081263 - PAK6 Q9NQU5 VAR_051656 p.Thr151Ile LB/B rs35593179 - PAK6 Q9NQU5 VAR_051657 p.Glu475Lys LB/B rs34445577 - PAK6-AS1 Q8N910 VAR_061614 p.Pro119Ser LB/B rs55863440 - PAK6-AS1 Q8N910 VAR_061615 p.Pro151Arg LB/B rs55974545 - PAK6-AS1 Q8N910 VAR_061616 p.Ile160Thr LB/B rs55799438 - PALB2 Q86YC2 VAR_032959 p.Ile309Val LB/B rs3809683 - PALB2 Q86YC2 VAR_054150 p.Pro864Ser LB/B rs45568339 - PALB2 Q86YC2 VAR_066361 p.His46Tyr LB/B - - PALB2 Q86YC2 VAR_066362 p.Asp219Gly LB/B rs45594034 - PALB2 Q86YC2 VAR_066363 p.Tyr334Cys LB/B rs200620434 - PALB2 Q86YC2 VAR_066364 p.Leu337Ser LB/B rs45494092 - PALB2 Q86YC2 VAR_066365 p.Arg414Gln LB/B rs749461008 - PALB2 Q86YC2 VAR_066366 p.Val425Met LB/B rs576081828 - PALB2 Q86YC2 VAR_066367 p.Ala491Thr LB/B rs577969558 - PALB2 Q86YC2 VAR_066368 p.Lys515Arg LB/B rs515726072 - PALB2 Q86YC2 VAR_066369 p.Gln559Arg LB/B rs152451 - PALB2 Q86YC2 VAR_066370 p.Glu672Gln LB/B rs45532440 - PALB2 Q86YC2 VAR_066371 p.Ala712Val LB/B rs141458731 - PALB2 Q86YC2 VAR_066372 p.Phe728Leu LB/B - - PALB2 Q86YC2 VAR_066373 p.Val917Ala LB/B rs763645981 - PALB2 Q86YC2 VAR_066374 p.Val932Met LB/B rs45624036 - PALB2 Q86YC2 VAR_066375 p.Leu939Trp LB/B rs45478192 - PALB2 Q86YC2 VAR_066376 p.Ile966Val LB/B rs786204248 - PALB2 Q86YC2 VAR_066377 p.Gly998Glu LB/B rs45551636 - PALB2 Q86YC2 VAR_066378 p.Ala1025Thr LB/B rs746872839 - PALB2 Q86YC2 VAR_066379 p.Gly1043Ala LB/B rs377713277 - PALB2 Q86YC2 VAR_066380 p.Ser1075Gly LB/B - - PALB2 Q86YC2 VAR_066381 p.Val1105Ala LB/B - - PALB2 Q86YC2 VAR_066382 p.Gln1114His LB/B rs1567206753 - PALB2 Q86YC2 VAR_066383 p.Leu1143Pro LB/B rs62625284 - PALB2 Q86YC2 VAR_066384 p.His1170Tyr LB/B rs200283306 - PALB2 Q86YC2 VAR_079842 p.Lys18Arg LB/B rs138789658 - PALB2 Q86YC2 VAR_079843 p.Tyr28Cys LB/B rs515726129 - PALB2 Q86YC2 VAR_079844 p.Leu35Pro US rs141047069 - PALB2 Q86YC2 VAR_079845 p.Arg37His LB/B rs202194596 - PALD1 Q9ULE6 VAR_032076 p.Ser141Leu LB/B rs2275060 - PALD1 Q9ULE6 VAR_032077 p.Arg721Cys LB/B rs3740447 - PALD1 Q9ULE6 VAR_062188 p.Gly828Arg LB/B rs10999406 - PALLD Q8WX93 VAR_034940 p.Met224Ile LB/B rs7671781 - PALLD Q8WX93 VAR_059401 p.Met224Thr LB/B rs7655494 - PALM O75781 VAR_053803 p.Thr107Ala LB/B rs1050457 - PALM2AKAP2 Q9Y2D5 VAR_024248 p.Leu792Ser LB/B rs914358 - PALM3 A6NDB9 VAR_053804 p.Ala440Thr LB/B rs11880169 - PALMD Q9NP74 VAR_053805 p.His73Gln LB/B rs11802902 - PALMD Q9NP74 VAR_053806 p.Asn229Ser LB/B rs35258980 - PALMD Q9NP74 VAR_053807 p.Glu459Asp LB/B rs35317701 - PAM P19021 VAR_055694 p.Val49Leu LB/B rs2230458 - PAM16 Q9Y3D7 VAR_013764 p.Gln114Lys LB/B rs11989 - PAM16 Q9Y3D7 VAR_073419 p.Asn76Asp LP/P rs786203989 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type (SMDMDM) [MIM:613320] PAMR1 Q6UXH9 VAR_032335 p.Ala305Thr LB/B rs16927482 - PAN2 Q504Q3 VAR_031162 p.Ser32Asn LB/B rs11558139 - PAN2 Q504Q3 VAR_031163 p.Ile179Leu LB/B rs1918496 - PAN2 Q504Q3 VAR_036359 p.Ala1201Val US rs1330054285 A colorectal cancer sample PANK2 Q9BZ23 VAR_015152 p.Leu111Gln LB/B rs71647828 - PANK2 Q9BZ23 VAR_015153 p.Gly126Ala LB/B rs3737084 - PANK2 Q9BZ23 VAR_015154 p.Gly219Val LP/P - Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015155 p.Thr234Ala LP/P rs137852965 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015156 p.Arg264Trp LP/P rs137852961 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015157 p.Arg278Cys LP/P rs137852966 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015158 p.Leu282Val LP/P - Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015159 p.Arg286Cys LP/P rs137852962 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015160 p.Thr327Ile LP/P - Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015161 p.Ser351Pro LP/P rs137852964 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015162 p.Asn355Ser LP/P rs746484727 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015163 p.Asn404Ile LP/P rs752078407 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015164 p.Leu413Pro LP/P rs750176786 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015165 p.Ser471Asn LP/P rs137852963 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015166 p.Ile497Thr LP/P - Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015167 p.Asn500Ile LP/P rs759332123 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015168 p.Gly521Arg LP/P rs137852959 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015169 p.Thr528Met US rs137852967 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_054484 p.Arg94Pro LB/B rs71647827 - PANK2 Q9BZ23 VAR_060934 p.Glu134Gly LP/P rs765679726 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060935 p.Arg249Pro LP/P - Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060936 p.Arg278Leu LP/P rs1348762206 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060937 p.Glu322Asp LP/P rs974575417 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060938 p.Glu322Gly LP/P rs768230831 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060939 p.Arg357Gln LP/P rs754521581 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060940 p.Ala398Thr LP/P rs759223327 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060942 p.Cys428Tyr LP/P rs1012947103 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060943 p.Asp447Asn LP/P - Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060944 p.Ile501Thr LP/P rs775459398 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060945 p.Ala509Val LP/P - Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060946 p.Asn511Asp LP/P rs767653843 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060947 p.Arg532Trp LP/P - Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060948 p.Leu563Pro LP/P rs1324077575 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060949 p.Pro570Leu LP/P rs41279408 Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_076594 p.Asp232Gly US - Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_076595 p.Phe377Ser US - Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_076596 p.Leu489Pro US - Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_076597 p.Gly555Ser US - Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] PANK4 Q9NVE7 VAR_015170 p.Gln684Arg LB/B rs2494620 - PANK4 Q9NVE7 VAR_027409 p.Ala547Val LB/B rs7535528 - PANK4 Q9NVE7 VAR_035470 p.Glu475Lys US rs966358882 A colorectal cancer sample PANX1 Q96RD7 VAR_016098 p.Gln5His LB/B rs1138800 - PANX1 Q96RD7 VAR_031225 p.Ile272Val LB/B rs12793348 - PANX1 Q96RD7 VAR_083162 p.Arg217His US rs143240087 - PANX1 Q96RD7 VAR_083163 p.Lys346Glu LP/P rs1591529130 Oocyte/zygote/embryo maturation arrest 7 (OZEMA7) [MIM:618550] PANX1 Q96RD7 VAR_083164 p.Cys347Ser LP/P rs1212949833 Oocyte/zygote/embryo maturation arrest 7 (OZEMA7) [MIM:618550] PANX2 Q96RD6 VAR_036575 p.Ser147Phe US rs941735789 A breast cancer sample PANX3 Q96QZ0 VAR_034367 p.Gly95Arg LB/B rs34498516 - PANX3 Q96QZ0 VAR_034368 p.Thr208Ala LB/B rs35569094 - PAPLN O95428 VAR_039815 p.Ser33Gly LB/B rs2280792 - PAPLN O95428 VAR_039816 p.Ala191Thr LB/B rs741842 - PAPLN O95428 VAR_039817 p.Asn356His LB/B rs17126331 - PAPLN O95428 VAR_039818 p.Val443Ile LB/B rs17126352 - PAPLN O95428 VAR_039819 p.Ala461Val LB/B rs17126354 - PAPLN O95428 VAR_039820 p.His628Arg LB/B rs17182244 - PAPLN O95428 VAR_039821 p.Gln723His LB/B rs2242616 - PAPLN O95428 VAR_039822 p.Gly896Arg LB/B rs177386 - PAPLN O95428 VAR_039823 p.Leu1192Val LB/B rs2107731 - PAPLN O95428 VAR_039824 p.Thr1201Met LB/B rs4903104 - PAPLN O95428 VAR_039825 p.Ser1260Thr LB/B rs11626824 - PAPPA Q13219 VAR_011419 p.Ser944Arg LB/B rs117124330 - PAPPA Q13219 VAR_018726 p.Ser1224Tyr LB/B rs7020782 - PAPPA Q13219 VAR_057091 p.Ser5Ile LB/B rs417012 - PAPPA Q13219 VAR_057092 p.Pro325Leu LB/B rs445159 - PAPPA2 Q9BXP8 VAR_051595 p.Thr171Ser LB/B rs36112782 - PAPPA2 Q9BXP8 VAR_051596 p.Pro1657Arg LB/B rs34602579 - PAPPA2 Q9BXP8 VAR_086133 p.Ala1033Val LP/P - Short stature, Dauber-Argente type (SSDA) [MIM:619489] PAPSS1 O43252 VAR_014064 p.Ser587Leu LB/B rs1127014 - PAPSS1 O43252 VAR_014065 p.Leu270Phe LB/B rs1127008 - PAPSS2 O95340 VAR_022077 p.Val291Met LB/B rs45467596 - PAPSS2 O95340 VAR_029136 p.Glu10Lys LB/B rs17173698 - PAPSS2 O95340 VAR_029137 p.Met281Leu LB/B rs45624631 - PAPSS2 O95340 VAR_029138 p.Arg432Lys LB/B rs17129133 - PAPSS2 O95340 VAR_063049 p.Thr48Arg LP/P rs121908951 Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847] PAPSS2 O95340 VAR_073026 p.Cys43Tyr LP/P - Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847] PAPSS2 O95340 VAR_073027 p.Leu76Gln LP/P - Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847] PAPSS2 O95340 VAR_073028 p.Glu183Lys LB/B rs774709274 - PAPSS2 O95340 VAR_073029 p.Gly270Asp LP/P rs138943074 Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847] PAQR5 Q9NXK6 VAR_031436 p.Ile24Thr LB/B rs17853893 - PAQR7 Q86WK9 VAR_048204 p.Gly272Arg LB/B rs6689014 - PAQR7 Q86WK9 VAR_060999 p.Val227Met LB/B rs55948644 - PARD3 Q8TEW0 VAR_015663 p.Glu107Asp LB/B rs1436731 - PARD3 Q8TEW0 VAR_050453 p.Asp575Asn LB/B rs3758459 - PARD3 Q8TEW0 VAR_079846 p.Arg349His US rs199923448 Neural tube defects (NTD) [MIM:182940] PARD3 Q8TEW0 VAR_079847 p.Asp783Gly LP/P rs1114167354 Neural tube defects (NTD) [MIM:182940] PARD3 Q8TEW0 VAR_079848 p.Pro913Gln LP/P rs781461462 Neural tube defects (NTD) [MIM:182940] PARD3B Q8TEW8 VAR_015664 p.Leu165Pro LB/B rs1510765 - PARD3B Q8TEW8 VAR_015665 p.Arg192Lys LB/B rs2289025 - PARD3B Q8TEW8 VAR_015666 p.Gln295Lys LB/B rs1061522 - PARD3B Q8TEW8 VAR_056642 p.Lys317Arg LB/B rs34751010 - PARD6A Q9NPB6 VAR_050454 p.Val286Ile LB/B rs35356834 - PARK7 Q99497 VAR_020492 p.Met26Ile LP/P rs74315351 Parkinson disease 7 (PARK7) [MIM:606324] PARK7 Q99497 VAR_020493 p.Glu64Asp LP/P rs74315353 Parkinson disease 7 (PARK7) [MIM:606324] PARK7 Q99497 VAR_020494 p.Arg98Gln LB/B rs71653619 - PARK7 Q99497 VAR_020495 p.Ala104Thr LP/P rs774005786 Parkinson disease 7 (PARK7) [MIM:606324] PARK7 Q99497 VAR_020496 p.Asp149Ala LP/P rs74315352 Parkinson disease 7 (PARK7) [MIM:606324] PARK7 Q99497 VAR_020497 p.Gly150Ser LB/B rs368420490 - PARK7 Q99497 VAR_020498 p.Leu166Pro LP/P rs28938172 Parkinson disease 7 (PARK7) [MIM:606324] PARK7 Q99497 VAR_020499 p.Ala171Ser LB/B rs777026628 - PARK7 Q99497 VAR_034801 p.Glu163Lys US rs74315354 Parkinson disease 7 (PARK7) [MIM:606324] PARK7 Q99497 VAR_072589 p.Ala39Ser LB/B rs137853051 - PARK7 Q99497 VAR_084339 p.Leu10Pro US - Parkinson disease 7 (PARK7) [MIM:606324] PARL Q9H300 VAR_021578 p.Val262Leu LB/B rs3732581 - PARL Q9H300 VAR_029801 p.Ala137Gly LB/B rs4912470 - PARM1 Q6UWI2 VAR_062257 p.Ser127Leu LB/B rs3822109 - PARN O95453 VAR_073782 p.Ala383Val LP/P rs786200999 Dyskeratosis congenita, autosomal recessive, 6 (DKCB6) [MIM:616353] PARN O95453 VAR_073783 p.Lys421Arg LP/P rs777090017 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 4 (PFBMFT4) [MIM:616371] PARP1 P09874 VAR_014714 p.Ala188Thr LB/B rs1805409 - PARP1 P09874 VAR_014715 p.Val762Ala LB/B rs1136410 - PARP1 P09874 VAR_019171 p.Val334Ile LB/B rs3219057 - PARP1 P09874 VAR_019172 p.Ser383Tyr LB/B rs3219062 - PARP1 P09874 VAR_019173 p.Lys940Arg LB/B rs3219145 - PARP1 P09874 VAR_035852 p.Glu488Val US - A breast cancer sample PARP1 P09874 VAR_050460 p.Phe54Leu LB/B rs3738708 - PARP1 P09874 VAR_050461 p.Pro377Ser LB/B rs2230484 - PARP10 Q53GL7 VAR_027859 p.Ile249Val LB/B rs11136344 - PARP10 Q53GL7 VAR_027860 p.Leu395Pro LB/B rs11136343 - PARP10 Q53GL7 VAR_027861 p.Val630Ala LB/B rs11544989 - PARP12 Q9H0J9 VAR_050463 p.Val293Ile LB/B rs34111764 - PARP12 Q9H0J9 VAR_050464 p.Val463Met LB/B rs35456446 - PARP12 Q9H0J9 VAR_050465 p.Ala620Val LB/B rs17161356 - PARP15 Q460N3 VAR_027862 p.Arg337Lys LB/B rs6793271 - PARP15 Q460N3 VAR_027863 p.Gly628Arg LB/B rs12489170 - PARP15 Q460N3 VAR_056658 p.Ala521Thr LB/B rs34383355 - PARP16 Q8N5Y8 VAR_027864 p.Ser280Pro LB/B rs17852901 - PARP2 Q9UGN5 VAR_019174 p.Ser161Asn LB/B rs3093905 - PARP2 Q9UGN5 VAR_019175 p.Asn168Ser LB/B rs3093906 - PARP2 Q9UGN5 VAR_019176 p.Asp235Gly LB/B rs3093921 - PARP2 Q9UGN5 VAR_019177 p.Ile285Val LB/B rs3093925 - PARP2 Q9UGN5 VAR_019178 p.Arg296Gln LB/B rs3093926 - PARP2 Q9UGN5 VAR_050462 p.Ile331Thr LB/B rs2275010 - PARP3 Q9Y6F1 VAR_054622 p.Arg100His LB/B rs28547534 - PARP3 Q9Y6F1 VAR_056643 p.Ser91Asn LB/B rs34224216 - PARP3 Q9Y6F1 VAR_056644 p.Gln269Arg LB/B rs323870 - PARP4 Q9UKK3 VAR_016090 p.Gly1265Ala LB/B rs1050110 - PARP4 Q9UKK3 VAR_016091 p.Gly1280Arg LB/B rs13428 - PARP4 Q9UKK3 VAR_056645 p.Ile81Val LB/B rs35200240 - PARP4 Q9UKK3 VAR_056646 p.Ser122Asn LB/B rs9578751 - PARP4 Q9UKK3 VAR_056647 p.Phe215Tyr LB/B rs9318600 - PARP4 Q9UKK3 VAR_056648 p.Pro792Leu LB/B rs4986818 - PARP4 Q9UKK3 VAR_056649 p.Ser873Asn LB/B rs7140044 - PARP4 Q9UKK3 VAR_056650 p.Ala899Thr LB/B rs2275660 - PARP4 Q9UKK3 VAR_056651 p.Lys991Arg LB/B rs34689435 - PARP4 Q9UKK3 VAR_056652 p.Val1012Ile LB/B rs9581043 - PARP4 Q9UKK3 VAR_056653 p.Ser1253Thr LB/B rs4986822 - PARP8 Q8N3A8 VAR_035853 p.Ser777Ala US - A colorectal cancer sample PARP9 Q8IXQ6 VAR_056654 p.Ser21Leu LB/B rs34006803 - PARP9 Q8IXQ6 VAR_056655 p.Ile517Val LB/B rs28365795 - PARP9 Q8IXQ6 VAR_056656 p.Tyr528Cys LB/B rs9851180 - PARP9 Q8IXQ6 VAR_056657 p.Thr651Ala LB/B rs6780543 - PARPBP Q9NWS1 VAR_031105 p.Val400Met LB/B rs12227879 - PARS2 Q7L3T8 VAR_034527 p.Asn235Ser LB/B rs2270004 - PARS2 Q7L3T8 VAR_052644 p.Arg28Ser LB/B rs11577368 - PARS2 Q7L3T8 VAR_082149 p.Val95Ile US rs147227819 Developmental and epileptic encephalopathy 75 (DEE75) [MIM:618437] PARS2 Q7L3T8 VAR_082617 p.Ile80Thr US rs1246773873 Developmental and epileptic encephalopathy 75 (DEE75) [MIM:618437] PARS2 Q7L3T8 VAR_082618 p.Arg202Gly US rs141760650 Developmental and epileptic encephalopathy 75 (DEE75) [MIM:618437] PARS2 Q7L3T8 VAR_082619 p.Glu203Lys US rs1557762729 Developmental and epileptic encephalopathy 75 (DEE75) [MIM:618437] PARS2 Q7L3T8 VAR_082620 p.Ser279Leu US rs730882153 Developmental and epileptic encephalopathy 75 (DEE75) [MIM:618437] PARS2 Q7L3T8 VAR_082621 p.Pro364Arg US rs35201073 Developmental and epileptic encephalopathy 75 (DEE75) [MIM:618437] PARVB Q9HBI1 VAR_017242 p.Val58Ala LB/B rs1983609 - PARVB Q9HBI1 VAR_034369 p.Pro52Arg LB/B rs34476853 - PASD1 Q8IV76 VAR_034819 p.Gln213Glu LB/B rs5924658 - PASK Q96RG2 VAR_028293 p.Val250Ile LB/B rs1470414 - PASK Q96RG2 VAR_028294 p.Leu514Ser LB/B rs2240543 - PASK Q96RG2 VAR_028295 p.Val694Met LB/B rs6727226 - PASK Q96RG2 VAR_028296 p.Gly725Asp LB/B rs2005771 - PASK Q96RG2 VAR_028297 p.Val1210Met LB/B rs10167000 - PASK Q96RG2 VAR_028298 p.Phe1266Cys LB/B rs1131293 - PASK Q96RG2 VAR_040986 p.Glu11Lys US rs1277219458 A metastatic melanoma sample PASK Q96RG2 VAR_040987 p.Gln426Arg LB/B rs35187712 - PASK Q96RG2 VAR_040988 p.Thr512Ala LB/B rs56033464 - PASK Q96RG2 VAR_040989 p.Pro684Arg LB/B rs56372985 - PASK Q96RG2 VAR_040990 p.Glu796Lys LB/B rs35129131 - PASK Q96RG2 VAR_040991 p.Pro844Gln LB/B rs36082918 - PASK Q96RG2 VAR_040992 p.Arg937His LB/B rs56139954 - PASK Q96RG2 VAR_040993 p.Pro1301Ser LB/B - - PATE1 Q8WXA2 VAR_052699 p.Val46Ile LB/B rs537916 - PATE1 Q8WXA2 VAR_052700 p.Gln47Arg LB/B rs2114084 - PATE3 B3GLJ2 VAR_059884 p.Thr30Lys LB/B rs1025165 - PATJ Q8NI35 VAR_022695 p.Cys744Arg LB/B rs1134764 - PATJ Q8NI35 VAR_027988 p.Gly303Arg LB/B rs3762321 - PATJ Q8NI35 VAR_027989 p.Glu362Ala LB/B rs1286823 - PATJ Q8NI35 VAR_027990 p.Ile400Val LB/B rs7516332 - PATJ Q8NI35 VAR_027991 p.Gln599His LB/B rs1286812 - PATJ Q8NI35 VAR_027992 p.Glu779Lys LB/B rs12141598 - PATJ Q8NI35 VAR_027993 p.Glu780Lys LB/B rs12141599 - PATJ Q8NI35 VAR_027994 p.Ile870Met LB/B rs2799627 - PATJ Q8NI35 VAR_027995 p.Gly1178Ser LB/B rs1056513 - PATJ Q8NI35 VAR_027996 p.Arg1282His LB/B rs1134767 - PATJ Q8NI35 VAR_027997 p.Val1360Leu LB/B rs2498982 - PATJ Q8NI35 VAR_027998 p.Ala1504Pro LB/B rs13376115 - PATL2 C9JE40 VAR_064549 p.Met88Leu LB/B rs8026845 - PATL2 C9JE40 VAR_080257 p.Leu189Arg LP/P rs1156737044 Oocyte/zygote/embryo maturation arrest 4 (OZEMA4) [MIM:617743] PATL2 C9JE40 VAR_080258 p.Tyr217Asn LP/P rs1361024832 Oocyte/zygote/embryo maturation arrest 4 (OZEMA4) [MIM:617743] PATL2 C9JE40 VAR_080260 p.Arg280Gln US rs569729547 Oocyte/zygote/embryo maturation arrest 4 (OZEMA4) [MIM:617743] PATL2 C9JE40 VAR_080261 p.Ile318Thr US rs1011539285 Oocyte/zygote/embryo maturation arrest 4 (OZEMA4) [MIM:617743] PATL2 C9JE40 VAR_080262 p.Gly370Arg US rs1397500378 Oocyte/zygote/embryo maturation arrest 4 (OZEMA4) [MIM:617743] PATZ1 Q9HBE1 VAR_052724 p.Glu685Asp LB/B rs2240424 - PAWR Q96IZ0 VAR_022465 p.Pro42Leu LB/B rs8176804 - PAWR Q96IZ0 VAR_022466 p.Pro78Arg LB/B rs8176805 - PAWR Q96IZ0 VAR_022467 p.Gly137Ala LB/B rs8176806 - PAWR Q96IZ0 VAR_022468 p.Glu202Ala LB/B rs8176870 - PAX1 P15863 VAR_003787 p.Gln139His US - - PAX1 P15863 VAR_055369 p.Thr439Arg LB/B rs17861058 - PAX1 P15863 VAR_055370 p.Pro453Leu LB/B rs17861059 - PAX1 P15863 VAR_055371 p.Pro504Leu LB/B rs17861061 - PAX1 P15863 VAR_070922 p.Gly166Val LP/P rs540296842 Otofaciocervical syndrome 2, with T-cell deficiency (OTFCS2) [MIM:615560] PAX2 Q02962 VAR_003789 p.Gly76Ser LP/P rs79555199 Papillorenal syndrome (PAPRS) [MIM:120330] PAX2 Q02962 VAR_012443 p.Ala334Val LB/B rs78738655 - PAX2 Q02962 VAR_068079 p.Gly24Glu LB/B rs201239919 - PAX2 Q02962 VAR_068080 p.Gly25Val LP/P - Papillorenal syndrome (PAPRS) [MIM:120330] PAX2 Q02962 VAR_068081 p.Leu33Arg LP/P - Papillorenal syndrome (PAPRS) [MIM:120330] PAX2 Q02962 VAR_068082 p.Ser61Ile LP/P - Papillorenal syndrome (PAPRS) [MIM:120330] PAX2 Q02962 VAR_068083 p.Ser61Asn LP/P - Papillorenal syndrome (PAPRS) [MIM:120330] PAX2 Q02962 VAR_068085 p.Leu69Pro LP/P - Papillorenal syndrome (PAPRS) [MIM:120330] PAX2 Q02962 VAR_068086 p.Arg71Thr LP/P rs104894170 Papillorenal syndrome (PAPRS) [MIM:120330] PAX2 Q02962 VAR_068089 p.Gly84Ser LP/P - Papillorenal syndrome (PAPRS) [MIM:120330] PAX2 Q02962 VAR_068090 p.Arg117Pro LP/P rs773306707 Papillorenal syndrome (PAPRS) [MIM:120330] PAX2 Q02962 VAR_068091 p.Pro130His LP/P - Papillorenal syndrome (PAPRS) [MIM:120330] PAX2 Q02962 VAR_068092 p.Pro130Ser LP/P - Papillorenal syndrome (PAPRS) [MIM:120330] PAX2 Q02962 VAR_068093 p.Ala160Thr LB/B rs201383632 - PAX2 Q02962 VAR_068094 p.Thr164Asn LP/P rs370214925 Focal segmental glomerulosclerosis 7 (FSGS7) [MIM:616002] PAX2 Q02962 VAR_068095 p.Ser175Thr LB/B - - PAX2 Q02962 VAR_068096 p.Ser387Asn US rs138490772 - PAX2 Q02962 VAR_071937 p.Asp2Gly LP/P - Papillorenal syndrome (PAPRS) [MIM:120330] PAX2 Q02962 VAR_071938 p.Arg56Gln LP/P rs587777708 Focal segmental glomerulosclerosis 7 (FSGS7) [MIM:616002] PAX2 Q02962 VAR_071939 p.Pro80Leu LP/P rs1554856032 Focal segmental glomerulosclerosis 7 (FSGS7) [MIM:616002] PAX2 Q02962 VAR_071940 p.Ser133Phe LP/P - Focal segmental glomerulosclerosis 7 (FSGS7) [MIM:616002] PAX2 Q02962 VAR_071941 p.Ile139Val LP/P - Papillorenal syndrome (PAPRS) [MIM:120330] PAX2 Q02962 VAR_071942 p.Thr150Ala LP/P rs1201078720 Focal segmental glomerulosclerosis 7 (FSGS7) [MIM:616002] PAX2 Q02962 VAR_071943 p.Gly189Arg LP/P rs1131692055 Focal segmental glomerulosclerosis 7 (FSGS7) [MIM:616002] PAX2 Q02962 VAR_071944 p.Ala295Val LP/P rs1403345811 Papillorenal syndrome (PAPRS) [MIM:120330] PAX2 Q02962 VAR_071945 p.Leu296Pro LP/P - Papillorenal syndrome (PAPRS) [MIM:120330] PAX2 Q02962 VAR_071946 p.Pro298Ser LP/P rs893370744 Papillorenal syndrome (PAPRS) [MIM:120330] PAX2 Q02962 VAR_071947 p.Thr329Ala LP/P - Papillorenal syndrome (PAPRS) [MIM:120330] PAX3 P23760 VAR_003790 p.Phe45Leu LP/P - Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003791 p.Asn47His LP/P rs104893653 Waardenburg syndrome 3 (WS3) [MIM:148820] PAX3 P23760 VAR_003792 p.Asn47Lys LP/P rs104893652 Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880] PAX3 P23760 VAR_003793 p.Pro50Leu LP/P rs104893650 Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003794 p.Arg56Leu LP/P rs267606931 Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003795 p.Ile59Phe LP/P - Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003796 p.Ile59Asn LP/P - Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003797 p.Val60Met LP/P - Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003798 p.Met62Val LP/P - Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003800 p.Gly81Ala LP/P rs587776586 Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003801 p.Ser84Phe LP/P rs104893651 Waardenburg syndrome 3 (WS3) [MIM:148820] PAX3 P23760 VAR_003802 p.Lys85Glu LP/P - Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003803 p.Gly99Asp LP/P rs1189463428 Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003804 p.Phe238Ser LP/P - Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003805 p.Val265Phe LP/P - Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003806 p.Arg271Gly LP/P - Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003807 p.Thr315Lys LB/B rs2234675 - PAX3 P23760 VAR_013619 p.Arg270Cys LP/P rs1228590199 Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_013619 p.Arg270Cys LP/P rs1228590199 Waardenburg syndrome 3 (WS3) [MIM:148820] PAX3 P23760 VAR_013640 p.Ser73Leu LP/P rs1553593928 Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_013641 p.Gln391His LP/P - Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_017533 p.Gly48Arg LP/P rs1419548558 Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_017534 p.Val78Met LP/P - Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_017535 p.Tyr90His LP/P rs104893654 Waardenburg syndrome 3 (WS3) [MIM:148820] PAX3 P23760 VAR_017536 p.Trp266Cys LP/P - Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_017537 p.Arg271Cys LP/P rs1380858784 Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_017538 p.Arg271His LP/P rs774528745 Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_017539 p.Arg273Lys US rs1020175890 Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_079619 p.His80Asp LP/P rs387906947 Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3 P23760 VAR_079621 p.Leu234Pro LP/P - Waardenburg syndrome 1 (WS1) [MIM:193500] PAX4 O43316 VAR_054879 p.Arg39Gln LB/B rs115887120 - PAX4 O43316 VAR_054880 p.Arg45Trp US rs35155575 Diabetes mellitus, ketosis-prone (KPD) [MIM:612227] PAX4 O43316 VAR_054881 p.Arg129Trp US rs114202595 Type 2 diabetes mellitus (T2D) [MIM:125853] PAX4 O43316 VAR_054882 p.Arg141Trp US rs2233578 Diabetes mellitus, ketosis-prone (KPD) [MIM:612227] PAX4 O43316 VAR_054883 p.Arg172Trp LP/P - Maturity-onset diabetes of the young 9 (MODY9) [MIM:612225] PAX4 O43316 VAR_054884 p.Arg191Cys LB/B rs114315130 - PAX4 O43316 VAR_054885 p.Arg200His LB/B rs2233580 - PAX4 O43316 VAR_054886 p.Arg200Ser LB/B rs3824004 - PAX5 Q02548 VAR_034370 p.Ala322Thr LB/B rs34810717 - PAX5 Q02548 VAR_070672 p.Gly24Arg LB/B rs868494257 - PAX5 Q02548 VAR_070673 p.Val26Gly LB/B rs926053251 - PAX5 Q02548 VAR_070674 p.Pro34Gln LB/B - - PAX5 Q02548 VAR_070675 p.Asp53Val LB/B - - PAX5 Q02548 VAR_070676 p.Arg59Gly LB/B - - PAX5 Q02548 VAR_070677 p.Ser66Asn LB/B - - PAX5 Q02548 VAR_070678 p.Thr75Arg LB/B - - PAX5 Q02548 VAR_070679 p.Pro80Arg LB/B - - PAX5 Q02548 VAR_070680 p.Ile139Thr LB/B - - PAX5 Q02548 VAR_070681 p.Val151Ile LB/B rs115889954 - PAX5 Q02548 VAR_070682 p.Gly183Ser LP/P rs398123063 Leukemia, acute lymphoblastic, 3 (ALL3) [MIM:613065] PAX5 Q02548 VAR_070683 p.Gly183Val LB/B - - PAX5 Q02548 VAR_070684 p.Ser213Leu LB/B rs137870876 - PAX5 Q02548 VAR_070685 p.Ile301Thr LB/B rs372989600 - PAX5 Q02548 VAR_070686 p.Gly338Val LB/B - - PAX6 P26367 VAR_003808 p.Asn17Ser LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_003809 p.Gly18Trp LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_003810 p.Arg26Gly LP/P rs121907913 Anterior segment dysgenesis 5 (ASGD5) [MIM:604229] PAX6 P26367 VAR_003811 p.Ile29Val LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_003812 p.Arg44Gln LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_003813 p.Ile87Arg LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_003814 p.Arg128Cys LP/P rs121907918 Foveal hypoplasia 1 (FVH1) [MIM:136520] PAX6 P26367 VAR_003815 p.Gln178His LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_003816 p.Arg208Trp LP/P rs757259413 Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_008694 p.Ile29Ser LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_008695 p.Ala33Pro LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_008697 p.Ile42Ser LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_008698 p.Ser43Pro LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_008699 p.Val53Leu LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_008700 p.Val53Asp LP/P - Anterior segment dysgenesis 5 (ASGD5) [MIM:604229] PAX6 P26367 VAR_008701 p.Thr63Pro LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_008702 p.Gly64Val LB/B rs121907920 - PAX6 P26367 VAR_008703 p.Ala79Glu LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_008704 p.Ser119Arg LP/P rs121907928 Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_008705 p.Val126Asp LP/P rs121907919 Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_008706 p.Arg208Gln LP/P rs749244084 Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_008707 p.Ser353Ala LP/P rs373661718 Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_008708 p.Gln422Arg LP/P rs780356070 Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_015065 p.Pro118Arg US - - PAX6 P26367 VAR_015066 p.Pro375Gln LP/P rs200015827 Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_017540 p.Pro68Ser LB/B rs121907923 - PAX6 P26367 VAR_017541 p.Arg125Cys LP/P - Foveal hypoplasia 1 (FVH1) [MIM:136520] PAX6 P26367 VAR_017542 p.Phe258Ser LP/P rs121907925 Coloboma of optic nerve (COLON) [MIM:120430] PAX6 P26367 VAR_017542 p.Phe258Ser LP/P rs121907925 Coloboma, ocular, autosomal dominant (COAD) [MIM:120200] PAX6 P26367 VAR_017543 p.Ser292Ile LP/P - Bilateral optic nerve hypoplasia (BONH) [MIM:165550] PAX6 P26367 VAR_017544 p.Ser363Pro LP/P - Anterior segment dysgenesis 5 (ASGD5) [MIM:604229] PAX6 P26367 VAR_017545 p.Gln378Arg US - - PAX6 P26367 VAR_017546 p.Met381Val LP/P - Bilateral optic nerve hypoplasia (BONH) [MIM:165550] PAX6 P26367 VAR_017547 p.Thr391Ala LP/P rs121907926 Bilateral optic nerve hypoplasia (BONH) [MIM:165550] PAX6 P26367 VAR_047860 p.Arg19Pro LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_047861 p.Leu46Arg LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_047862 p.Cys52Arg LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_047863 p.Ile56Thr LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_047864 p.Gly73Asp LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_047865 p.Ile87Lys LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_047866 p.Arg242Thr LP/P rs121907927 Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_047867 p.Ala321Thr US - - PAX6 P26367 VAR_047868 p.Gly387Asp LB/B rs1392343463 - PAX6 P26367 VAR_067698 p.Gly395Arg LP/P - Aniridia 1 (AN1) [MIM:106210] PAX6 P26367 VAR_084825 p.Arg38Gln US - Foveal hypoplasia 1 (FVH1) [MIM:136520] PAX7 P23759 VAR_083265 p.Arg56Cys LP/P rs1392068839 Congenital myopathy 19 (CMYP19) [MIM:618578] PAX8 Q06710 VAR_012769 p.Arg31His LP/P rs104893657 Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700] PAX8 Q06710 VAR_012770 p.Gln40Pro LP/P rs104893656 Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700] PAX8 Q06710 VAR_012771 p.Cys57Tyr LP/P rs104893659 Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700] PAX8 Q06710 VAR_012772 p.Leu62Arg LP/P rs104893658 Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700] PAX8 Q06710 VAR_012773 p.Phe329Leu LB/B rs3188996 - PAX9 P55771 VAR_015698 p.Gly51Ser LP/P rs104894469 Tooth agenesis, selective, 3 (STHAG3) [MIM:604625] PAX9 P55771 VAR_034371 p.Ala240Pro LB/B rs4904210 - PAXBP1 Q9Y5B6 VAR_079417 p.Arg538Cys US rs1569159832 - PAXIP1 Q6ZW49 VAR_034627 p.Met1013Val LB/B rs3501 - PBK Q96KB5 VAR_021162 p.Asn107Ser LB/B rs3779620 - PBK Q96KB5 VAR_041234 p.Met241Leu LB/B rs36086402 - PBK Q96KB5 VAR_051676 p.Glu220Asp LB/B rs17057901 - PBLD P30039 VAR_022684 p.Arg17Cys LB/B rs12359690 - PBLD P30039 VAR_022685 p.His257Arg LB/B rs4142048 - PBLD P30039 VAR_072403 p.Ser62Ile LB/B rs756247151 - PBOV1 Q9GZY1 VAR_059707 p.Ile73Thr LB/B rs6927706 - PBRM1 Q86U86 VAR_064653 p.Val49Leu US - - PBRM1 Q86U86 VAR_064654 p.Thr56Ala LB/B rs923060956 - PBRM1 Q86U86 VAR_064656 p.Arg66Gly LB/B rs368888772 - PBRM1 Q86U86 VAR_064657 p.Gln90Glu US - - PBRM1 Q86U86 VAR_064658 p.Tyr144Phe US - - PBRM1 Q86U86 VAR_064659 p.Glu160Ala US - - PBRM1 Q86U86 VAR_064660 p.Arg202Cys LB/B rs765525545 - PBRM1 Q86U86 VAR_064661 p.Glu206Lys LB/B rs1359676390 - PBRM1 Q86U86 VAR_064662 p.Glu226Gly US - - PBRM1 Q86U86 VAR_064663 p.Ile228Val LB/B rs201022657 - PBRM1 Q86U86 VAR_064664 p.Thr232Pro US - - PBRM1 Q86U86 VAR_064665 p.Ile233Thr US - - PBRM1 Q86U86 VAR_064666 p.Ala256Thr LB/B rs776146971 - PBRM1 Q86U86 VAR_064667 p.Gly340Ala LB/B rs200106731 - PBRM1 Q86U86 VAR_064668 p.Met523Ile US - - PBRM1 Q86U86 VAR_064669 p.Arg540Ser US - - PBRM1 Q86U86 VAR_064670 p.Ala597Asp US - - PBRM1 Q86U86 VAR_064671 p.Lys621Glu US - - PBRM1 Q86U86 VAR_064672 p.Lys661Asn US - - PBRM1 Q86U86 VAR_064673 p.Asp674Glu US - - PBRM1 Q86U86 VAR_064674 p.Arg678Cys LB/B rs1422119249 - PBRM1 Q86U86 VAR_064675 p.Tyr893Cys LB/B rs753344888 - PBRM1 Q86U86 VAR_064676 p.Thr895Ser US - - PBRM1 Q86U86 VAR_064677 p.Glu922Gln US - - PBRM1 Q86U86 VAR_064678 p.Lys925Gln US - - PBRM1 Q86U86 VAR_064679 p.Pro1079Tyr US - - PBRM1 Q86U86 VAR_064680 p.Ala1098Ser LB/B rs201156614 - PBRM1 Q86U86 VAR_064681 p.Arg1120Gln LB/B rs35102895 - PBRM1 Q86U86 VAR_064682 p.Gly1177Ser US - - PBRM1 Q86U86 VAR_064683 p.His1204Pro US - - PBRM1 Q86U86 VAR_064685 p.Glu1287Gln US - - PBRM1 Q86U86 VAR_064686 p.Gly1414Glu US - - PBRM1 Q86U86 VAR_064687 p.Gly1503Cys US - - PBRM1 Q86U86 VAR_064688 p.Gln1560His US - - PBRM1 Q86U86 VAR_064689 p.Ile1614Asn US - - PBRM1 Q86U86 VAR_064690 p.Arg1647Cys LB/B rs200020801 - PBX1 P40424 VAR_068904 p.Gly31Ser LB/B rs2275558 - PBX4 Q9BYU1 VAR_036439 p.Thr283Met US rs376647012 A colorectal cancer sample PBX4 Q9BYU1 VAR_059355 p.Val169Ile LB/B rs8108180 - PBX4 Q9BYU1 VAR_059356 p.Met177Val LB/B rs8108981 - PBXIP1 Q96AQ6 VAR_035265 p.Gly357Asp LB/B rs2061690 - PBXIP1 Q96AQ6 VAR_051263 p.Gly356Asp LB/B rs2061690 - PC P11498 VAR_008095 p.Ala610Thr LP/P rs28940589 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PC P11498 VAR_008096 p.Met743Ile LP/P rs28940590 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PC P11498 VAR_015199 p.Val145Ala LP/P rs28940591 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PC P11498 VAR_015200 p.Arg451Cys LP/P rs113994143 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PC P11498 VAR_048416 p.His76Leu LB/B rs7104156 - PC P11498 VAR_058957 p.Arg156Gln LP/P rs119103241 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PC P11498 VAR_058958 p.Arg270Trp LP/P rs1258494752 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PC P11498 VAR_058959 p.Tyr304Cys LP/P - Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PC P11498 VAR_058960 p.Arg583Leu LP/P rs119103242 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PC P11498 VAR_058961 p.Arg631Gln LP/P rs113994145 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PCARE A6NGG8 VAR_042646 p.Ser13Cys LB/B rs10084168 - PCARE A6NGG8 VAR_042647 p.Lys421Arg LB/B rs17007544 - PCARE A6NGG8 VAR_042648 p.Thr580Met LB/B rs10166913 - PCARE A6NGG8 VAR_042649 p.Leu792Val LB/B rs17744093 - PCARE A6NGG8 VAR_042650 p.Pro1254Leu LB/B rs1975713 - PCARE A6NGG8 VAR_063395 p.Ile201Phe LP/P rs267606690 Retinitis pigmentosa 54 (RP54) [MIM:613428] PCARE A6NGG8 VAR_063396 p.Pro867Leu LB/B rs182248363 - PCARE A6NGG8 VAR_065267 p.Glu227Lys LB/B rs114057537 - PCARE A6NGG8 VAR_065268 p.Val247Ala LB/B rs77828062 - PCARE A6NGG8 VAR_065269 p.Ala252Asp LB/B rs77003681 - PCARE A6NGG8 VAR_065270 p.Arg258Ile LB/B rs116156338 - PCARE A6NGG8 VAR_065271 p.Ser312Asn LB/B rs1572829341 - PCARE A6NGG8 VAR_065272 p.Arg320Cys US rs374283240 Retinitis pigmentosa 54 (RP54) [MIM:613428] PCARE A6NGG8 VAR_065273 p.Asp372Asn LP/P rs201284350 Retinitis pigmentosa 54 (RP54) [MIM:613428] PCARE A6NGG8 VAR_065274 p.Glu378Lys LB/B rs201900716 - PCARE A6NGG8 VAR_065275 p.Leu612Pro LP/P rs200758183 Retinitis pigmentosa 54 (RP54) [MIM:613428] PCARE A6NGG8 VAR_065276 p.Val615Asp LP/P rs140776870 Retinitis pigmentosa 54 (RP54) [MIM:613428] PCARE A6NGG8 VAR_065277 p.Ala628Thr LB/B rs571059484 - PCARE A6NGG8 VAR_065278 p.Ala648Pro LB/B - - PCARE A6NGG8 VAR_065279 p.Cys688Tyr LB/B rs149601594 - PCARE A6NGG8 VAR_065280 p.Pro954Ser LB/B rs758883789 - PCARE A6NGG8 VAR_065281 p.Arg955Gln LB/B rs184249075 - PCARE A6NGG8 VAR_065282 p.Ala959Thr LB/B rs192350796 - PCARE A6NGG8 VAR_065283 p.Gln1020Arg LB/B rs200367963 - PCARE A6NGG8 VAR_065285 p.Ala1160Thr LB/B rs766723736 - PCARE A6NGG8 VAR_065286 p.Arg1177Gln LB/B rs375826049 - PCARE A6NGG8 VAR_065288 p.Gly1247Ser LB/B rs187333111 - PCARE A6NGG8 VAR_079609 p.Gln1176Arg US rs182812191 - PCBD1 P61457 VAR_005527 p.Thr79Ile LP/P rs121913014 Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070] PCBD1 P61457 VAR_005528 p.Cys82Arg LP/P rs104894177 Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070] PCBD1 P61457 VAR_005529 p.Arg88Gln LB/B rs115117837 - PCBD1 P61457 VAR_005530 p.Glu97Lys LP/P rs397518416 Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070] PCBP4 P57723 VAR_049681 p.Gly198Ser LB/B rs323872 - PCCA P05165 VAR_009087 p.Ala75Pro LP/P rs794727479 Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009088 p.Arg77Trp LP/P rs141371306 Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009089 p.Ala138Thr LP/P rs202247814 Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009090 p.Ile164Thr LP/P rs202247815 Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009091 p.Met229Lys LP/P rs375628794 Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009092 p.Gln297Arg LP/P - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009093 p.Asp368Gly LP/P - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009094 p.Met373Lys LP/P rs121964958 Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009095 p.Gly379Val LP/P rs794727087 Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009096 p.Arg399Gln LP/P rs1301904623 Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009097 p.Pro423Leu LP/P rs1443858896 Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009098 p.Ile475Val LB/B rs35719359 - PCCA P05165 VAR_009099 p.Trp559Leu LP/P rs118169528 Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009100 p.Gly631Arg LP/P rs796052018 Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009101 p.Gly668Arg LP/P rs771438170 Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_023843 p.Gly197Glu LP/P - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_023844 p.Cys398Arg LP/P - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_023846 p.Val551Phe LB/B rs61749895 - PCCB P05166 VAR_000271 p.Arg44Pro LP/P - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000272 p.Ser106Arg LP/P - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000273 p.Gly131Arg LP/P - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000274 p.Arg165Trp LP/P rs879253815 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000275 p.Glu168Lys LP/P rs121964960 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000276 p.Gly198Asp LP/P rs762354873 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000278 p.Arg410Trp LP/P rs121964959 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000279 p.Ala497Val LP/P rs142403318 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000280 p.Arg512Cys LP/P rs186710233 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000281 p.Leu519Pro LP/P rs202247822 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_009080 p.Leu17Met LP/P rs200185747 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_009082 p.Val205Asp LP/P - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_009083 p.Pro228Leu LP/P rs374722096 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_009084 p.Thr428Ile LP/P rs111033542 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_009085 p.Met442Thr LP/P - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_009086 p.Asn536Asp LP/P rs202247823 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023847 p.Arg67Ser LP/P rs747053913 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023848 p.Val107Met LP/P rs1553774114 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023849 p.Gly112Asp LP/P rs202247818 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023850 p.Ala153Pro LP/P rs202247819 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023851 p.Arg165Gln LP/P rs1304714042 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023852 p.Gly188Arg LP/P rs746102997 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023853 p.Gly246Val LP/P - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023855 p.Ile430Leu LP/P - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023856 p.Tyr435Cys LP/P rs121964961 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023857 p.Tyr439Cys LP/P rs769521436 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023858 p.Ala468Thr LP/P rs775563122 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_048163 p.Pro287Ser LB/B rs2228310 - PCDH1 Q08174 VAR_047530 p.Leu15Phe LB/B rs12517385 - PCDH1 Q08174 VAR_047531 p.His25Pro LB/B rs12515587 - PCDH1 Q08174 VAR_047532 p.Ala514Thr LB/B rs3822357 - PCDH11X Q9BZA7 VAR_036109 p.Asp42Gly US rs1451414636 A colorectal cancer sample PCDH11X Q9BZA7 VAR_048575 p.Arg1018Gln LB/B rs4252205 - PCDH11Y Q9BZA8 VAR_026020 p.Val917Phe LB/B rs2524543 - PCDH11Y Q9BZA8 VAR_026021 p.Asn1012Lys LB/B rs2563389 - PCDH11Y Q9BZA8 VAR_048576 p.Ala1320Thr LB/B rs2556900 - PCDH12 Q9NPG4 VAR_020368 p.His385Asn LB/B rs164075 - PCDH12 Q9NPG4 VAR_020369 p.Ser640Asn LB/B rs164515 - PCDH12 Q9NPG4 VAR_080385 p.Arg55Gly LB/B rs200451693 - PCDH12 Q9NPG4 VAR_080386 p.Ser147Ile US rs759794990 Diencephalic-mesencephalic junction dysplasia syndrome 1 (DMJDS1) [MIM:251280] PCDH12 Q9NPG4 VAR_080387 p.Ile332Asn US rs146725009 Diencephalic-mesencephalic junction dysplasia syndrome 1 (DMJDS1) [MIM:251280] PCDH12 Q9NPG4 VAR_080389 p.Gly1091Ser US rs779814208 Diencephalic-mesencephalic junction dysplasia syndrome 1 (DMJDS1) [MIM:251280] PCDH15 Q96QU1 VAR_024035 p.Arg134Gly LP/P rs137853003 Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533] PCDH15 Q96QU1 VAR_024036 p.Gly262Asp LP/P rs137853002 Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533] PCDH15 Q96QU1 VAR_024037 p.Gln1342Lys LP/P rs61731387 Usher syndrome 1F (USH1F) [MIM:602083] PCDH15 Q96QU1 VAR_028289 p.Ser19Ala LB/B rs11004439 - PCDH15 Q96QU1 VAR_028290 p.Gly380Ser LB/B rs10825269 - PCDH15 Q96QU1 VAR_028291 p.Asp435Ala LB/B rs4935502 - PCDH15 Q96QU1 VAR_028292 p.Arg929Gln LB/B rs2135720 - PCDH15 Q96QU1 VAR_069297 p.Asp178Gly LP/P - Usher syndrome 1D/F (USH1DF) [MIM:601067] PCDH15 Q96QU1 VAR_071696 p.Arg134Gln LP/P rs767966376 Usher syndrome 1F (USH1F) [MIM:602083] PCDH15 Q96QU1 VAR_071697 p.Asn174Ser LB/B rs145037203 - PCDH15 Q96QU1 VAR_071698 p.Arg1273Ser LB/B rs111033363 - PCDH19 Q8TAB3 VAR_046484 p.Val441Glu LP/P rs132630323 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_046485 p.Asn557Lys LP/P rs267606933 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064481 p.Asp121Asn LP/P rs796052795 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064482 p.Glu199Gln LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064483 p.His203Pro LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064484 p.Phe206Cys LP/P rs746274631 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064485 p.Ser276Pro LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064486 p.Asn340Ser LP/P rs796052839 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064487 p.Asp377His LP/P rs1928407149 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064488 p.Thr404Ile LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064489 p.Glu414Gln LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064490 p.Leu543Pro LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064491 p.Arg958Gln LB/B rs748581653 - PCDH19 Q8TAB3 VAR_064492 p.Arg1107Gly LB/B rs191333060 - PCDH19 Q8TAB3 VAR_064840 p.Leu81Arg LP/P rs1569316056 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064842 p.Thr146Arg LP/P rs796052799 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064843 p.Phe206Tyr LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064844 p.Glu249Asp LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064845 p.Asp341Glu LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064846 p.Pro561Arg LP/P rs796052819 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064847 p.Pro567Leu LP/P rs201989363 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064848 p.Asp618Asn LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_067472 p.Leu25Pro LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_067473 p.Val72Gly LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_067474 p.Ala153Thr LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_067475 p.Leu190Arg LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_067476 p.Val191Leu LP/P rs753757730 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_067477 p.Asn232Ser LP/P rs587784299 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_067478 p.Asn234Ser LP/P rs1555985475 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_067479 p.Pro236Ser LP/P rs1928437614 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_067480 p.Ala262Asp LP/P rs1555985448 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_067481 p.Pro344Arg LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_067482 p.Asp377Glu LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_067483 p.Leu433Pro LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_067484 p.Gly513Arg LP/P - Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_067485 p.Val642Met LP/P rs1221643775 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_067486 p.Arg980Cys LB/B rs3764758 - PCDH19 Q8TAB3 VAR_067487 p.Leu1094Val LB/B rs184545774 - PCDH19 Q8TAB3 VAR_067488 p.Arg1107His LB/B rs200021840 - PCDH19 Q8TAB3 VAR_067489 p.Asn1134His LB/B rs141816797 - PCDH19 Q8TAB3 VAR_078227 p.Asn447His US - - PCDH19 Q8TAB3 VAR_078723 p.Asp230Asn US rs1928439241 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_078724 p.Pro236Leu LP/P rs1060502176 Developmental and epileptic encephalopathy 9 (DEE9) [MIM:300088] PCDH20 Q8N6Y1 VAR_036111 p.Val523Met US - A breast cancer sample PCDH8 O95206 VAR_017171 p.Trp7Arg LB/B rs3742301 - PCDH8 O95206 VAR_017172 p.Glu39Ala LB/B rs5030683 - PCDH8 O95206 VAR_017173 p.Val743Ala LB/B rs5030685 - PCDH8 O95206 VAR_036108 p.Lys956Asn US - A breast cancer sample PCDH8 O95206 VAR_059191 p.Thr367Ala LB/B rs9596693 - PCDHA1 Q9Y5I3 VAR_021872 p.Asn449His LB/B rs3733712 - PCDHA1 Q9Y5I3 VAR_021873 p.Tyr732Cys LB/B rs2240696 - PCDHA1 Q9Y5I3 VAR_048521 p.Arg360Gly LB/B rs34575154 - PCDHA1 Q9Y5I3 VAR_048522 p.Cys759Phe LB/B rs2240695 - PCDHA10 Q9Y5I2 VAR_048535 p.Ser439Arg LB/B rs251362 - PCDHA10 Q9Y5I2 VAR_048536 p.Val585Gly LB/B rs251364 - PCDHA10 Q9Y5I2 VAR_048537 p.Thr639Ala LB/B rs630162 - PCDHA11 Q9Y5I1 VAR_048538 p.Ser199Tyr LB/B rs10071369 - PCDHA11 Q9Y5I1 VAR_048539 p.Trp418Ser LB/B rs17119218 - PCDHA2 Q9Y5H9 VAR_024389 p.Val106Leu LB/B rs11167600 - PCDHA2 Q9Y5H9 VAR_048523 p.Pro764Leu LB/B rs6858913 - PCDHA2 Q9Y5H9 VAR_059179 p.Glu25Lys LB/B rs9686540 - PCDHA3 Q9Y5H8 VAR_021874 p.Ile318Val LB/B rs3733708 - PCDHA3 Q9Y5H8 VAR_021875 p.Cys759Tyr LB/B rs2240694 - PCDHA3 Q9Y5H8 VAR_048524 p.Ile289Thr LB/B rs3733709 - PCDHA3 Q9Y5H8 VAR_048525 p.Ser440Ile LB/B rs7701755 - PCDHA3 Q9Y5H8 VAR_061060 p.Pro61Gln LB/B rs7731327 - PCDHA4 Q9UN74 VAR_024390 p.Pro184Ser LB/B rs3822346 - PCDHA4 Q9UN74 VAR_059180 p.Glu55Asp LB/B rs11167605 - PCDHA5 Q9Y5H7 VAR_048526 p.Ala691Val LB/B rs4141841 - PCDHA6 Q9UN73 VAR_061061 p.Leu585Val LB/B rs60309716 - PCDHA7 Q9UN72 VAR_048527 p.Arg138Lys LB/B rs10067182 - PCDHA7 Q9UN72 VAR_048528 p.Ala663Gly LB/B rs6880234 - PCDHA8 Q9Y5H6 VAR_021876 p.Ser78Asn LB/B rs3756331 - PCDHA8 Q9Y5H6 VAR_048529 p.Pro269Arg LB/B rs525886 - PCDHA8 Q9Y5H6 VAR_059181 p.Lys579Glu LB/B rs6580012 - PCDHA9 Q9Y5H5 VAR_048530 p.Ser28Arg LB/B rs251353 - PCDHA9 Q9Y5H5 VAR_048531 p.Lys138Arg LB/B rs364101 - PCDHA9 Q9Y5H5 VAR_048532 p.Leu336Val LB/B rs251354 - PCDHA9 Q9Y5H5 VAR_048533 p.Gly430Arg LB/B rs251355 - PCDHA9 Q9Y5H5 VAR_048534 p.Lys764Thr LB/B rs369639 - PCDHA9 Q9Y5H5 VAR_059182 p.Lys764Gln LB/B rs369636 - PCDHA9 Q9Y5H5 VAR_061062 p.Phe64Leu LB/B rs56926451 - PCDHA9 Q9Y5H5 VAR_061063 p.Glu501Gln LB/B rs59056023 - PCDHAC1 Q9H158 VAR_048540 p.Leu498Val LB/B rs246074 - PCDHB1 Q9Y5F3 VAR_048541 p.Phe385Leu LB/B rs2233591 - PCDHB1 Q9Y5F3 VAR_048542 p.Leu390Phe LB/B rs2233592 - PCDHB1 Q9Y5F3 VAR_048543 p.Ala524Val LB/B rs17208383 - PCDHB1 Q9Y5F3 VAR_048544 p.Thr611Ile LB/B rs10476822 - PCDHB1 Q9Y5F3 VAR_048545 p.Ile712Thr LB/B rs31738 - PCDHB1 Q9Y5F3 VAR_048546 p.Lys719Ile LB/B rs2233595 - PCDHB1 Q9Y5F3 VAR_048547 p.Phe778Leu LB/B rs246679 - PCDHB11 Q9Y5F2 VAR_021881 p.Gln4Arg LB/B rs3756323 - PCDHB11 Q9Y5F2 VAR_048553 p.Arg7His LB/B rs917535 - PCDHB11 Q9Y5F2 VAR_059188 p.Asp528Glu LB/B rs799834 - PCDHB12 Q9Y5F1 VAR_033710 p.Thr420Ile LB/B rs2910327 - PCDHB12 Q9Y5F1 VAR_048554 p.Lys763Glu LB/B rs2910006 - PCDHB13 Q9Y5F0 VAR_059189 p.Arg471Gly LB/B rs2910329 - PCDHB15 Q9Y5E8 VAR_019633 p.Ser474Arg LB/B rs618506 - PCDHB15 Q9Y5E8 VAR_019634 p.Arg494Gln LB/B rs618096 - PCDHB15 Q9Y5E8 VAR_036106 p.Ala719Val US - A breast cancer sample PCDHB15 Q9Y5E8 VAR_036107 p.Gly758Val US - A breast cancer sample PCDHB16 Q9NRJ7 VAR_026478 p.Gln525Arg LB/B rs17844651 - PCDHB16 Q9NRJ7 VAR_026479 p.Gly532Ser LB/B rs2697532 - PCDHB16 Q9NRJ7 VAR_055587 p.Asp91Glu LB/B rs17096969 - PCDHB16 Q9NRJ7 VAR_061068 p.Val347Leu LB/B rs28664170 - PCDHB16 Q9NRJ7 VAR_061069 p.Ala508Thr LB/B rs17844648 - PCDHB2 Q9Y5E7 VAR_020365 p.Val128Ile LB/B rs31853 - PCDHB2 Q9Y5E7 VAR_033701 p.Leu674Pro LB/B rs384081 - PCDHB2 Q9Y5E7 VAR_033702 p.Gly760Asp LB/B rs1047372 - PCDHB3 Q9Y5E6 VAR_020366 p.Arg414Ser LB/B rs3733699 - PCDHB3 Q9Y5E6 VAR_024391 p.Lys41Arg LB/B rs31849 - PCDHB3 Q9Y5E6 VAR_033703 p.Glu207Lys LB/B rs12515688 - PCDHB4 Q9Y5E5 VAR_021878 p.Ala421Thr LB/B rs3776099 - PCDHB4 Q9Y5E5 VAR_048548 p.Lys168Arg LB/B rs34350292 - PCDHB4 Q9Y5E5 VAR_048549 p.Pro255Leu LB/B rs3733697 - PCDHB4 Q9Y5E5 VAR_048550 p.Pro255Ser LB/B rs3733698 - PCDHB4 Q9Y5E5 VAR_048551 p.Thr553Ala LB/B rs246669 - PCDHB5 Q9Y5E4 VAR_033704 p.Ile156Thr LB/B rs17096901 - PCDHB5 Q9Y5E4 VAR_048552 p.Pro720Ser LB/B rs400562 - PCDHB6 Q9Y5E3 VAR_021879 p.Val231Ile LB/B rs3776096 - PCDHB6 Q9Y5E3 VAR_033705 p.Leu232Phe LB/B rs10076554 - PCDHB6 Q9Y5E3 VAR_033706 p.His636Gln LB/B rs246703 - PCDHB6 Q9Y5E3 VAR_033707 p.Tyr747His LB/B rs17685621 - PCDHB6 Q9Y5E3 VAR_070665 p.Ala446Val LB/B rs246707 - PCDHB6 Q9Y5E3 VAR_070666 p.Gly776Asp LB/B rs17844444 - PCDHB7 Q9Y5E2 VAR_020367 p.Val389Leu LB/B rs2910313 - PCDHB7 Q9Y5E2 VAR_033708 p.Glu120Lys LB/B rs17286891 - PCDHB7 Q9Y5E2 VAR_033709 p.Glu187Lys LB/B rs17096946 - PCDHB7 Q9Y5E2 VAR_059183 p.Pro575Leu LB/B rs13189280 - PCDHB7 Q9Y5E2 VAR_059184 p.Leu576Val LB/B rs13174866 - PCDHB7 Q9Y5E2 VAR_059185 p.Arg716Trp LB/B rs2910314 - PCDHB8 Q9UN66 VAR_021880 p.Lys305Glu LB/B rs3733694 - PCDHB8 Q9UN66 VAR_024392 p.Ala322Val LB/B rs7700833 - PCDHB8 Q9UN66 VAR_024393 p.Leu767Phe LB/B rs2740583 - PCDHB8 Q9UN66 VAR_031619 p.Lys199Asn LB/B rs2950845 - PCDHB8 Q9UN66 VAR_031620 p.Glu244Gln LB/B rs2950844 - PCDHB8 Q9UN66 VAR_055581 p.Glu232Gly LB/B rs17096954 - PCDHB8 Q9UN66 VAR_055582 p.Ile382Thr LB/B rs3733693 - PCDHB8 Q9UN66 VAR_055583 p.Gln639His LB/B rs2740582 - PCDHB8 Q9UN66 VAR_055584 p.Val661Leu LB/B rs2697541 - PCDHB8 Q9UN66 VAR_055585 p.Ser745Asn LB/B rs17096961 - PCDHB8 Q9UN66 VAR_055586 p.Gly759Val LB/B rs35245446 - PCDHB9 Q9Y5E1 VAR_059186 p.Ser174Pro LB/B rs11167742 - PCDHB9 Q9Y5E1 VAR_059187 p.Val239Ala LB/B rs11167743 - PCDHB9 Q9Y5E1 VAR_061064 p.Arg124Ser LB/B rs2740588 - PCDHB9 Q9Y5E1 VAR_061065 p.Ser185Gly LB/B rs17844512 - PCDHB9 Q9Y5E1 VAR_061066 p.Lys414Glu LB/B rs10040383 - PCDHB9 Q9Y5E1 VAR_061067 p.Leu426Met LB/B rs2697530 - PCDHGA1 Q9Y5H4 VAR_021882 p.Val152Ile LB/B rs2472647 - PCDHGA1 Q9Y5H4 VAR_048555 p.His282Gln LB/B rs17097185 - PCDHGA10 Q9Y5H3 VAR_048566 p.Ile89Val LB/B rs4912751 - PCDHGA10 Q9Y5H3 VAR_048567 p.Ser796Pro LB/B rs11575963 - PCDHGA10 Q9Y5H3 VAR_084654 p.Glu275Lys US - - PCDHGA11 Q9Y5H2 VAR_033711 p.Phe104Leu LB/B rs11167744 - PCDHGA2 Q9Y5H1 VAR_048556 p.Gln5Arg LB/B rs6878145 - PCDHGA3 Q9Y5H0 VAR_055588 p.Pro79Ser LB/B rs11575947 - PCDHGA3 Q9Y5H0 VAR_055589 p.Ile154Leu LB/B rs11575948 - PCDHGA3 Q9Y5H0 VAR_059190 p.Ala743Val LB/B rs7736541 - PCDHGA4 Q9Y5G9 VAR_048557 p.Ala181Thr LB/B rs11575949 - PCDHGA4 Q9Y5G9 VAR_048558 p.Arg672Lys LB/B rs4329068 - PCDHGA4 Q9Y5G9 VAR_048559 p.Asp714His LB/B rs11575951 - PCDHGA6 Q9Y5G7 VAR_048560 p.Arg248Ser LB/B rs11575953 - PCDHGA7 Q9Y5G6 VAR_048561 p.Glu188Gly LB/B rs2072315 - PCDHGA7 Q9Y5G6 VAR_048562 p.Leu212Phe LB/B rs2240698 - PCDHGA7 Q9Y5G6 VAR_048563 p.Thr239Met LB/B rs17097251 - PCDHGA8 Q9Y5G5 VAR_048564 p.Leu16Arg LB/B rs726684 - PCDHGA8 Q9Y5G5 VAR_061070 p.Asn187Lys LB/B rs11575958 - PCDHGA9 Q9Y5G4 VAR_048565 p.Leu791Phe LB/B rs17097274 - PCDHGB2 Q9Y5G2 VAR_048568 p.Pro26Arg LB/B rs17097231 - PCDHGB2 Q9Y5G2 VAR_061071 p.Val58Ile LB/B rs13171859 - PCDHGB2 Q9Y5G2 VAR_061072 p.Lys687Glu LB/B rs57735633 - PCDHGB3 Q9Y5G1 VAR_048569 p.Phe20Tyr LB/B rs6860590 - PCDHGB3 Q9Y5G1 VAR_048570 p.Asn389Lys LB/B rs2240697 - PCDHGB3 Q9Y5G1 VAR_061073 p.Ala28Val LB/B rs6860609 - PCDHGB5 Q9Y5G0 VAR_048571 p.Gly188Ser LB/B rs6867460 - PCDHGB6 Q9Y5F9 VAR_021883 p.Pro684Ser LB/B rs3749768 - PCDHGB6 Q9Y5F9 VAR_021884 p.Ala722Thr LB/B rs3749767 - PCDHGB6 Q9Y5F9 VAR_048572 p.Ser775Ala LB/B rs6891442 - PCDHGB7 Q9Y5F8 VAR_048573 p.Val405Leu LB/B rs17208397 - PCDHGC4 Q9Y5F7 VAR_087339 p.Asp483Glu US - Neurodevelopmental disorder with poor growth and skeletal anomalies (NEDGS) [MIM:619880] PCDHGC4 Q9Y5F7 VAR_087340 p.Ala488Val US rs775104626 Neurodevelopmental disorder with poor growth and skeletal anomalies (NEDGS) [MIM:619880] PCDHGC4 Q9Y5F7 VAR_087341 p.Val606Gly US - Neurodevelopmental disorder with poor growth and skeletal anomalies (NEDGS) [MIM:619880] PCDHGC5 Q9Y5F6 VAR_024394 p.Asp570Gly LB/B rs2074912 - PCDHGC5 Q9Y5F6 VAR_048574 p.Gly275Ser LB/B rs2233603 - PCED1A Q9H1Q7 VAR_021945 p.Gln22His LB/B rs2274670 - PCED1B Q96HM7 VAR_042761 p.Pro429Ala LB/B rs2543737 - PCF11 O94913 VAR_036878 p.Gln651His LB/B rs7935175 - PCF11 O94913 VAR_036879 p.His1119Tyr LB/B rs17513642 - PCF11 O94913 VAR_036880 p.Glu1402Lys LB/B rs11233510 - PCGF2 P35227 VAR_082085 p.Pro65Leu LP/P - Turnpenny-Fry syndrome (TPFS) [MIM:618371] PCGF2 P35227 VAR_082086 p.Pro65Ser LP/P - Turnpenny-Fry syndrome (TPFS) [MIM:618371] PCK1 P35558 VAR_015575 p.Ile267Val LB/B rs8192708 - PCK1 P35558 VAR_021072 p.Arg55Gln LB/B rs28383585 - PCK1 P35558 VAR_021073 p.Met60Thr LB/B rs28383586 - PCK1 P35558 VAR_021074 p.Thr138Ile LB/B rs28359542 - PCK1 P35558 VAR_021075 p.Val184Leu LB/B rs707555 - PCK1 P35558 VAR_021076 p.Glu276Lys LB/B rs11552145 - PCK1 P35558 VAR_021077 p.Val368Ile LB/B rs1804160 - PCK1 P35558 VAR_021078 p.Pro427Ser LB/B rs28359550 - PCK1 P35558 VAR_042444 p.Glu586Asp LB/B rs1042529 - PCK1 P35558 VAR_079633 p.Ile45Thr LP/P rs202197769 Phosphoenolpyruvate carboxykinase deficiency, cytosolic (PCKDC) [MIM:261680] PCK1 P35558 VAR_079634 p.Gly309Arg US rs201186470 Phosphoenolpyruvate carboxykinase deficiency, cytosolic (PCKDC) [MIM:261680] PCK2 Q16822 VAR_042445 p.Arg31Gln LB/B rs2229660 - PCK2 Q16822 VAR_042446 p.Asp64Asn LB/B rs10132601 - PCK2 Q16822 VAR_042447 p.Gly406Ser LB/B rs17101262 - PCK2 Q16822 VAR_056662 p.Arg521His LB/B rs35618680 - PCK2 Q16822 VAR_088521 p.Pro170Leu US - - PCLAF Q15004 VAR_051262 p.Glu79Lys LB/B rs11554313 - PCLO Q9Y6V0 VAR_056959 p.Thr2671Pro LB/B rs10261848 - PCLO Q9Y6V0 VAR_056960 p.Ala2804Thr LB/B rs976714 - PCM1 Q15154 VAR_030164 p.Asn159Ser LB/B rs412750 - PCM1 Q15154 VAR_030165 p.Ala176Asp LB/B rs2285302 - PCM1 Q15154 VAR_030166 p.Met597Val LB/B rs208753 - PCM1 Q15154 VAR_030167 p.Ala691Ser LB/B rs17635381 - PCM1 Q15154 VAR_030168 p.Gly871Val LB/B rs7009117 - PCM1 Q15154 VAR_030169 p.Arg1251His LB/B rs17514547 - PCM1 Q15154 VAR_030170 p.Thr1543Ile LB/B rs370429 - PCM1 Q15154 VAR_047381 p.Ser600Pro LB/B rs34325017 - PCM1 Q15154 VAR_047382 p.Glu1326Asp LB/B rs34932823 - PCM1 Q15154 VAR_047383 p.Lys1701Asn LB/B rs36113670 - PCM1 Q15154 VAR_047384 p.Asn1865Asp LB/B rs35789133 - PCMT1 P22061 VAR_006173 p.Val120Ile LB/B rs4816 - PCMTD1 Q96MG8 VAR_060401 p.Asn312Ile LB/B rs12335014 - PCNA P12004 VAR_071871 p.Ser228Ile LP/P rs369958038 Ataxia-telangiectasia-like disorder 2 (ATLD2) [MIM:615919] PCNT O95613 VAR_043878 p.Thr539Ile LB/B rs2249060 - PCNT O95613 VAR_043879 p.Gly704Glu LB/B rs2839223 - PCNT O95613 VAR_043880 p.Thr879Ala LB/B rs2839227 - PCNT O95613 VAR_043881 p.Val1038Ala LB/B rs6518289 - PCNT O95613 VAR_043882 p.Arg1163Cys LB/B rs7279204 - PCNT O95613 VAR_043883 p.Ala1194Thr LB/B rs35044802 - PCNT O95613 VAR_043884 p.Ile1639Val LB/B rs6518291 - PCNT O95613 VAR_043885 p.Asn1841Ser LB/B rs35940413 - PCNT O95613 VAR_043886 p.Arg1953His LB/B rs34268261 - PCNT O95613 VAR_043887 p.Arg1960Gln LB/B rs34813667 - PCNT O95613 VAR_043888 p.Leu2097Pro LB/B rs2839245 - PCNT O95613 VAR_043889 p.His2125Pro LB/B rs35978208 - PCNT O95613 VAR_043890 p.Met2188Arg LB/B rs1044998 - PCNT O95613 VAR_043891 p.Ser2191Pro LB/B rs34151633 - PCNT O95613 VAR_056961 p.Trp2239Arg LB/B rs35346764 - PCNT O95613 VAR_056962 p.Pro2274Leu LB/B rs2070425 - PCNT O95613 VAR_056963 p.Pro2329Arg LB/B rs35848602 - PCNT O95613 VAR_056964 p.Gln2361Arg LB/B rs7277175 - PCNT O95613 VAR_056965 p.Ala2549Thr LB/B rs2839256 - PCNT O95613 VAR_056966 p.Arg2625Gln LB/B rs8131693 - PCNT O95613 VAR_056967 p.Gln2659His LB/B rs2070426 - PCNT O95613 VAR_056968 p.Arg2753His LB/B rs743346 - PCNT O95613 VAR_056969 p.Gln2792Arg LB/B rs2073376 - PCNT O95613 VAR_056970 p.Ala2903Thr LB/B rs35147998 - PCNT O95613 VAR_056971 p.Leu2975Pro LB/B rs35881595 - PCNT O95613 VAR_056972 p.Ser3091Gly LB/B rs4818842 - PCNT O95613 VAR_056973 p.Arg3245Ser LB/B rs2073380 - PCNT O95613 VAR_069420 p.Gly1452Arg LB/B rs143796569 - PCNT O95613 VAR_069421 p.Arg2424Gln LB/B rs371893416 - PCNX1 Q96RV3 VAR_028305 p.Leu809Ile LB/B rs11625687 - PCNX1 Q96RV3 VAR_028306 p.Leu814Ile LB/B rs11625690 - PCNX1 Q96RV3 VAR_050478 p.Ala594Thr LB/B rs34222509 - PCNX2 A6NKB5 VAR_043341 p.Thr454Ala LB/B rs10910120 - PCNX2 A6NKB5 VAR_050479 p.Arg117Lys LB/B rs1033325 - PCNX2 A6NKB5 VAR_061498 p.Ser1901Asn LB/B rs56231757 - PCNX2 A6NKB5 VAR_061499 p.Arg1984Gln LB/B rs41309639 - PCNX3 Q9H6A9 VAR_042889 p.Gln258Arg LB/B rs1151489 - PCNX3 Q9H6A9 VAR_042890 p.Ser458Cys LB/B rs1193851 - PCNX3 Q9H6A9 VAR_042891 p.Lys813Asn LB/B rs1144790 - PCNX3 Q9H6A9 VAR_061500 p.Gly564Ser LB/B rs56232198 - PCNX3 Q9H6A9 VAR_061501 p.His1822Gln LB/B rs7114037 - PCNX4 Q63HM2 VAR_028745 p.Gln770His LB/B rs3742642 - PCNX4 Q63HM2 VAR_028746 p.Asp811Tyr LB/B rs12895606 - PCNX4 Q63HM2 VAR_028747 p.Gly1000Ser LB/B rs167437 - PCOLCE2 Q9UKZ9 VAR_022448 p.Pro292Thr LB/B rs17554211 - PCOLCE2 Q9UKZ9 VAR_051264 p.Val280Ala LB/B rs35692900 - PCSK1 P29120 VAR_013906 p.Arg80Gln LB/B rs1799904 - PCSK1 P29120 VAR_013907 p.Asn221Asp LB/B rs6232 - PCSK1 P29120 VAR_013908 p.Gln665Glu LB/B rs6234 - PCSK1 P29120 VAR_013909 p.Ser690Thr LB/B rs6235 - PCSK1 P29120 VAR_022778 p.Gly483Arg LP/P rs137852821 Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955] PCSK1 P29120 VAR_055002 p.Ser307Leu LP/P rs137852824 Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955] PCSK1N Q9UHG2 VAR_028971 p.Ala31Thr LB/B rs11538176 - PCSK2 P16519 VAR_036548 p.Asp424Asn US rs780820865 A colorectal cancer sample PCSK2 P16519 VAR_069075 p.Pro244Gln LB/B rs17854040 - PCSK2 P16519 VAR_069076 p.Lys484Glu LB/B rs17857236 - PCSK2 P16519 VAR_079730 p.Ala77Asp LB/B rs201718679 - PCSK2 P16519 VAR_079731 p.Ala267Thr LB/B rs144151196 - PCSK2 P16519 VAR_079732 p.Arg430Trp LB/B rs200711626 - PCSK2 P16519 VAR_079733 p.Met525Val LB/B rs139619496 - PCSK4 Q6UW60 VAR_061772 p.Thr267Met LB/B rs36123574 - PCSK6 P29122 VAR_051824 p.Cys502Arg LB/B rs1058260 - PCSK7 Q16549 VAR_044419 p.Leu688Val LB/B rs608620 - PCSK7 Q16549 VAR_044420 p.Ser689Asn LB/B rs45539233 - PCSK7 Q16549 VAR_044421 p.Arg700Met LB/B rs45574931 - PCSK7 Q16549 VAR_044422 p.His708Tyr LB/B rs473131 - PCSK7 Q16549 VAR_044423 p.Arg711Gln LB/B rs473093 - PCSK9 Q8NBP7 VAR_017197 p.Arg46Leu LB/B rs11591147 - PCSK9 Q8NBP7 VAR_017198 p.Ala53Val LB/B rs11583680 - PCSK9 Q8NBP7 VAR_017199 p.Ser127Arg LP/P rs28942111 Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776] PCSK9 Q8NBP7 VAR_017200 p.Phe216Leu LP/P rs28942112 Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776] PCSK9 Q8NBP7 VAR_017201 p.Gly670Glu LB/B rs505151 - PCSK9 Q8NBP7 VAR_021337 p.Asn425Ser LB/B rs28362261 - PCSK9 Q8NBP7 VAR_021338 p.Ala443Thr LB/B rs28362263 - PCSK9 Q8NBP7 VAR_021339 p.Val474Ile LB/B rs562556 - PCSK9 Q8NBP7 VAR_021340 p.His553Arg LB/B rs28362270 - PCSK9 Q8NBP7 VAR_021341 p.Gln619Pro LB/B rs28362277 - PCSK9 Q8NBP7 VAR_025451 p.Glu57Lys LB/B rs145886902 - PCSK9 Q8NBP7 VAR_025452 p.Arg237Trp LB/B rs148195424 - PCSK9 Q8NBP7 VAR_025453 p.Leu253Phe LB/B rs72646508 - PCSK9 Q8NBP7 VAR_025454 p.His391Asn LB/B rs146471967 - PCSK9 Q8NBP7 VAR_025455 p.His417Gln LB/B rs143275858 - PCSK9 Q8NBP7 VAR_025456 p.Arg469Trp LB/B rs141502002 - PCSK9 Q8NBP7 VAR_025457 p.Glu482Gly LB/B rs141995194 - PCSK9 Q8NBP7 VAR_025458 p.Phe515Leu LB/B rs1356131564 - PCSK9 Q8NBP7 VAR_025459 p.Gln554Glu LB/B rs149311926 - PCSK9 Q8NBP7 VAR_058520 p.Thr77Ile LB/B rs756060557 - PCSK9 Q8NBP7 VAR_058521 p.Arg93Cys LB/B rs151193009 - PCSK9 Q8NBP7 VAR_058522 p.Gly106Arg LB/B - - PCSK9 Q8NBP7 VAR_058523 p.Val114Ala LB/B rs775988212 - PCSK9 Q8NBP7 VAR_058524 p.Asp129Gly LP/P rs1553135971 Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776] PCSK9 Q8NBP7 VAR_058525 p.Asn157Lys LB/B rs143117125 - PCSK9 Q8NBP7 VAR_058526 p.Arg215His LP/P rs794728683 Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776] PCSK9 Q8NBP7 VAR_058527 p.Arg218Ser LP/P rs970575319 Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776] PCSK9 Q8NBP7 VAR_058528 p.Gln219Glu LB/B rs778617372 - PCSK9 Q8NBP7 VAR_058529 p.Ala239Asp LB/B - - PCSK9 Q8NBP7 VAR_058530 p.Arg357His LP/P rs370507566 Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776] PCSK9 Q8NBP7 VAR_058531 p.Asp374His LP/P rs137852912 Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776] PCSK9 Q8NBP7 VAR_058532 p.Asp374Tyr LP/P rs137852912 Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776] PCSK9 Q8NBP7 VAR_058533 p.Gly452Asp LB/B - - PCSK9 Q8NBP7 VAR_058534 p.Arg496Trp LP/P rs374603772 Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776] PCSK9 Q8NBP7 VAR_058535 p.Ala522Thr LB/B rs777300852 - PCSK9 Q8NBP7 VAR_058536 p.Pro616Leu LB/B rs755750316 - PCSK9 Q8NBP7 VAR_058537 p.Ser668Arg LB/B rs762298323 - PCSK9 Q8NBP7 VAR_067282 p.Gly394Ser US rs368257906 Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776] PCSK9 Q8NBP7 VAR_067351 p.Pro174Ser LB/B rs533273863 - PCSK9 Q8NBP7 VAR_073657 p.Glu482Gln US - - PCTP Q9UKL6 VAR_052070 p.Glu10Ala LB/B rs12941739 - PCYOX1 Q9UHG3 VAR_050469 p.Ser149Phe LB/B rs2706762 - PCYOX1 Q9UHG3 VAR_050470 p.Thr414Ser LB/B rs17005441 - PCYOX1 Q9UHG3 VAR_050471 p.Ser465Gly LB/B rs34041544 - PCYOX1L Q8NBM8 VAR_031110 p.Ala5Pro LB/B rs2291814 - PCYOX1L Q8NBM8 VAR_031111 p.Glu390Asp LB/B rs4705336 - PCYOX1L Q8NBM8 VAR_050472 p.Ala316Thr LB/B rs35552800 - PCYT1A P49585 VAR_071083 p.Ala99Thr LP/P rs587777191 Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] PCYT1A P49585 VAR_071084 p.Ala99Val LP/P rs587777189 Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] PCYT1A P49585 VAR_071085 p.Glu129Lys LP/P rs587777194 Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] PCYT1A P49585 VAR_071086 p.Pro150Ala LP/P rs587777190 Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] PCYT1A P49585 VAR_071087 p.Phe191Leu LP/P rs587777195 Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] PCYT1A P49585 VAR_071088 p.Arg223Ser LP/P rs540053239 Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] PCYT2 Q99447 VAR_083888 p.His226Tyr US - Spastic paraplegia 82, autosomal recessive (SPG82) [MIM:618770] PCYT2 Q99447 VAR_083889 p.Pro289Leu US rs1204173741 Spastic paraplegia 82, autosomal recessive (SPG82) [MIM:618770] PDCD1 Q15116 VAR_031685 p.Ala215Val LB/B rs2227982 - PDCD10 Q9BUL8 VAR_023578 p.Asp102Ala LB/B rs1129087 - PDCD11 Q14690 VAR_014930 p.Asp1871Ala LB/B rs7831 - PDCD11 Q14690 VAR_031669 p.Ala623Ser LB/B rs11598673 - PDCD11 Q14690 VAR_031670 p.Leu1216Phe LB/B rs2986014 - PDCD11 Q14690 VAR_054485 p.Ser397Asn LB/B rs7074814 - PDCD11 Q14690 VAR_054486 p.Ala780Ser LB/B rs11591914 - PDCD11 Q14690 VAR_054487 p.Pro1453Ser LB/B rs2274289 - PDCD11 Q14690 VAR_076436 p.Lys45Glu LB/B rs150893869 - PDCD1LG2 Q9BQ51 VAR_022449 p.Phe229Ser LB/B rs7854303 - PDCD1LG2 Q9BQ51 VAR_049842 p.Ser58Thr LB/B rs12339171 - PDCD1LG2 Q9BQ51 VAR_049843 p.Ile241Thr LB/B rs7854413 - PDCD4 Q53EL6 VAR_028901 p.Ile36Val LB/B rs7081726 - PDCD4 Q53EL6 VAR_028902 p.Ser48Tyr LB/B rs11548765 - PDCD4 Q53EL6 VAR_036375 p.Gly120Arg US - A breast cancer sample PDCD6 O75340 VAR_035459 p.Gly123Cys US - A breast cancer sample PDCD6IP Q8WUM4 VAR_024381 p.Ser730Leu LB/B rs1127732 - PDCD6IP Q8WUM4 VAR_053017 p.Ala309Thr LB/B rs3792594 - PDCD6IP Q8WUM4 VAR_053018 p.Val378Ile LB/B rs3203777 - PDCD6IP Q8WUM4 VAR_053019 p.Asn550Ser LB/B rs9813017 - PDCD6IP Q8WUM4 VAR_053020 p.Lys638Glu LB/B rs3183982 - PDCD6IP Q8WUM4 VAR_068975 p.Val7Met LB/B rs11554560 - PDCD6IP Q8WUM4 VAR_069765 p.Gly429Ser LB/B rs76608858 - PDCL Q13371 VAR_050525 p.Lys218Asn LB/B rs4466466 - PDE10A Q9Y233 VAR_008797 p.Leu579Pro LB/B - - PDE10A Q9Y233 VAR_047822 p.Arg982Lys LB/B rs2224252 - PDE10A Q9Y233 VAR_047823 p.Asp983Asn LB/B rs2860112 - PDE10A Q9Y233 VAR_076798 p.Tyr373Cys LP/P rs778899140 Dyskinesia, limb and orofacial, infantile-onset (IOLOD) [MIM:616921] PDE10A Q9Y233 VAR_076799 p.Ala382Pro LP/P rs875989839 Dyskinesia, limb and orofacial, infantile-onset (IOLOD) [MIM:616921] PDE10A Q9Y233 VAR_076800 p.Phe566Leu LP/P rs875989841 Striatal degeneration, autosomal dominant 2 (ADSD2) [MIM:616922] PDE10A Q9Y233 VAR_076801 p.Phe600Leu LP/P rs875989840 Striatal degeneration, autosomal dominant 2 (ADSD2) [MIM:616922] PDE11A Q9HCR9 VAR_027056 p.Arg804His LB/B rs75127279 - PDE11A Q9HCR9 VAR_027057 p.Arg867Gly LB/B rs61306957 - PDE12 Q6L8Q7 VAR_039698 p.Arg23Trp LB/B rs2241988 - PDE1C Q14123 VAR_081215 p.Ala260Ser LP/P rs775633137 Deafness, autosomal dominant, 74 (DFNA74) [MIM:618140] PDE2A O00408 VAR_024170 p.Thr224Ile LB/B rs341047 - PDE2A O00408 VAR_085242 p.Pro149Leu US rs987916591 Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS) [MIM:619150] PDE2A O00408 VAR_085244 p.Asp480Gly US - Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS) [MIM:619150] PDE3A Q14432 VAR_059543 p.Asp12Asn LB/B rs12305038 - PDE3A Q14432 VAR_073869 p.Thr445Ala LP/P rs794726865 Hypertension and brachydactyly syndrome (HTNB) [MIM:112410] PDE3A Q14432 VAR_073870 p.Thr445Asn LP/P rs794726864 Hypertension and brachydactyly syndrome (HTNB) [MIM:112410] PDE3A Q14432 VAR_073871 p.Thr445Ser LP/P rs794726864 Hypertension and brachydactyly syndrome (HTNB) [MIM:112410] PDE3A Q14432 VAR_073872 p.Ala447Thr LP/P rs794726866 Hypertension and brachydactyly syndrome (HTNB) [MIM:112410] PDE3A Q14432 VAR_073873 p.Ala447Val LP/P rs794726867 Hypertension and brachydactyly syndrome (HTNB) [MIM:112410] PDE3A Q14432 VAR_073874 p.Gly449Val LP/P rs794726868 Hypertension and brachydactyly syndrome (HTNB) [MIM:112410] PDE3B Q13370 VAR_031462 p.Ala87Val LB/B rs1056584 - PDE4A P27815 VAR_059544 p.Ala736Glu LB/B rs1051738 - PDE4A P27815 VAR_059545 p.His808Tyr LB/B rs2230190 - PDE4B Q07343 VAR_034373 p.Ser703Cys LB/B rs2227297 - PDE4C Q08493 VAR_034374 p.Arg344Gln LB/B rs2229228 - PDE4C Q08493 VAR_050473 p.Ser131Leu LB/B rs10413646 - PDE4C Q08493 VAR_050474 p.Arg289Gln LB/B rs34503849 - PDE4C Q08493 VAR_061497 p.Arg344Trp LB/B rs11879710 - PDE4D Q08499 VAR_068242 p.Ser190Ala LP/P rs397514466 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] PDE4D Q08499 VAR_068243 p.Pro225Thr LP/P rs397514464 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] PDE4D Q08499 VAR_068244 p.Phe226Ser LP/P rs397514465 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] PDE4D Q08499 VAR_068245 p.Thr587Pro LP/P rs397514467 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] PDE4D Q08499 VAR_069448 p.Ala227Ser LP/P - Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] PDE4D Q08499 VAR_069449 p.Gln228Glu LP/P rs397514468 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] PDE4D Q08499 VAR_069450 p.Ser301Thr LP/P - Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] PDE4D Q08499 VAR_069451 p.Ala304Val LP/P rs397515433 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] PDE4D Q08499 VAR_069452 p.Val329Ala LP/P - Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] PDE4D Q08499 VAR_069453 p.Glu590Ala LP/P - Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] PDE4D Q08499 VAR_069454 p.Gly673Asp LP/P rs397514469 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] PDE4D Q08499 VAR_069455 p.Ile678Thr LP/P rs587777188 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] PDE4DIP Q5VU43 VAR_036627 p.Asn13Ser LB/B rs3010980 - PDE4DIP Q5VU43 VAR_036628 p.Arg25Leu LB/B rs1664022 - PDE4DIP Q5VU43 VAR_036629 p.Ile49Thr LB/B rs573724 - PDE4DIP Q5VU43 VAR_036630 p.Ala167Thr LB/B rs2590120 - PDE4DIP Q5VU43 VAR_051204 p.Arg171Lys LB/B rs3121544 - PDE4DIP Q5VU43 VAR_051205 p.Glu391Ala LB/B rs1324366 - PDE4DIP Q5VU43 VAR_051206 p.Glu410Val LB/B rs1061308 - PDE4DIP Q5VU43 VAR_051207 p.His482Arg LB/B rs1698681 - PDE4DIP Q5VU43 VAR_051208 p.Arg681His LB/B rs1629011 - PDE4DIP Q5VU43 VAR_051209 p.Arg708Cys LB/B rs1628172 - PDE4DIP Q5VU43 VAR_051210 p.Phe1013Ile LB/B rs1698624 - PDE4DIP Q5VU43 VAR_051211 p.Ala1066Thr LB/B rs1698647 - PDE4DIP Q5VU43 VAR_051212 p.Lys1359Glu LB/B rs1747958 - PDE4DIP Q5VU43 VAR_051213 p.Val1736Glu LB/B rs1778159 - PDE4DIP Q5VU43 VAR_051214 p.Ala1742Ser LB/B rs1698605 - PDE4DIP Q5VU43 VAR_056951 p.Lys143Glu LB/B rs1747958 - PDE4DIP Q5VU43 VAR_056952 p.Asn150Ser LB/B rs3010980 - PDE4DIP Q5VU43 VAR_080232 p.Arg1396Trp LB/B rs2798901 - PDE5A O76074 VAR_027775 p.Ala93Val LB/B rs3733526 - PDE5A O76074 VAR_027776 p.Ser181Ala LB/B rs17051276 - PDE6A P16499 VAR_006049 p.Ser344Arg LP/P rs121918577 Retinitis pigmentosa 43 (RP43) [MIM:613810] PDE6A P16499 VAR_025460 p.Arg102His LP/P rs750539462 Retinitis pigmentosa 43 (RP43) [MIM:613810] PDE6A P16499 VAR_025461 p.Arg102Ser LP/P rs141252097 Retinitis pigmentosa 43 (RP43) [MIM:613810] PDE6A P16499 VAR_025462 p.Asn216Ser LB/B rs10057110 - PDE6A P16499 VAR_025463 p.Val277Ala LB/B rs145608358 - PDE6A P16499 VAR_025464 p.Pro293Leu LB/B rs114973968 - PDE6A P16499 VAR_025465 p.Val391Met LB/B rs61732059 - PDE6A P16499 VAR_025466 p.Gln569Lys LP/P rs139444207 Retinitis pigmentosa 43 (RP43) [MIM:613810] PDE6A P16499 VAR_025467 p.Ser573Pro LP/P rs755527251 Retinitis pigmentosa 43 (RP43) [MIM:613810] PDE6A P16499 VAR_025468 p.Lys827Gln LB/B rs780450680 - PDE6A P16499 VAR_025469 p.Gly850Val LB/B rs138315990 - PDE6A P16499 VAR_047730 p.Ala145Thr LB/B rs35431421 - PDE6A P16499 VAR_047731 p.Gln492His LB/B rs17711594 - PDE6B P35913 VAR_006050 p.His557Tyr LP/P rs121918581 Retinitis pigmentosa 40 (RP40) [MIM:613801] PDE6B P35913 VAR_006051 p.Gly576Asp LP/P - Retinitis pigmentosa 40 (RP40) [MIM:613801] PDE6B P35913 VAR_006052 p.Leu699Arg LP/P - Retinitis pigmentosa 40 (RP40) [MIM:613801] PDE6B P35913 VAR_009283 p.Arg74Cys LP/P rs144590560 Retinitis pigmentosa 40 (RP40) [MIM:613801] PDE6B P35913 VAR_009284 p.Glu166Lys LB/B rs115775983 - PDE6B P35913 VAR_009285 p.Tyr212His LB/B rs551545798 - PDE6B P35913 VAR_009286 p.Tyr219His LP/P rs62295357 Retinitis pigmentosa 40 (RP40) [MIM:613801] PDE6B P35913 VAR_009287 p.Leu228His LP/P - Retinitis pigmentosa 40 (RP40) [MIM:613801] PDE6B P35913 VAR_009288 p.Leu228Ile LB/B rs201584824 - PDE6B P35913 VAR_009289 p.His258Asn LP/P rs121918582 Night blindness, congenital stationary, autosomal dominant 2 (CSNBAD2) [MIM:163500] PDE6B P35913 VAR_009290 p.Leu527Pro LP/P rs760766981 Retinitis pigmentosa 40 (RP40) [MIM:613801] PDE6B P35913 VAR_009291 p.Ile535Asn LP/P rs527236088 Retinitis pigmentosa 40 (RP40) [MIM:613801] PDE6B P35913 VAR_009292 p.Arg552Gln LP/P rs751859807 Retinitis pigmentosa 40 (RP40) [MIM:613801] PDE6B P35913 VAR_009293 p.Leu854Arg LP/P - Retinitis pigmentosa 40 (RP40) [MIM:613801] PDE6B P35913 VAR_054868 p.Val320Ile LB/B rs10902758 - PDE6B P35913 VAR_054869 p.Glu654Asp LB/B rs17849286 - PDE6B P35913 VAR_068361 p.Arg100His LP/P rs555600300 Retinitis pigmentosa 40 (RP40) [MIM:613801] PDE6B P35913 VAR_068362 p.Asp776Asn LP/P rs141563823 Retinitis pigmentosa 40 (RP40) [MIM:613801] PDE6C P51160 VAR_025470 p.Asp157Glu LB/B rs76999928 - PDE6C P51160 VAR_025471 p.Lys822Asn LB/B rs79487435 - PDE6C P51160 VAR_025472 p.Glu834Gly LB/B rs148661165 - PDE6C P51160 VAR_050475 p.Ser270Thr LB/B rs701865 - PDE6C P51160 VAR_050476 p.Glu699Ala LB/B rs12261131 - PDE6C P51160 VAR_062408 p.Arg29Trp LP/P rs121918537 Achromatopsia 5 (ACHM5) [MIM:613093] PDE6C P51160 VAR_062408 p.Arg29Trp LP/P rs121918537 Cone dystrophy 4 (COD4) [MIM:613093] PDE6C P51160 VAR_062409 p.Tyr323Asn LP/P rs121918538 Achromatopsia 5 (ACHM5) [MIM:613093] PDE6C P51160 VAR_062410 p.Met455Val LP/P rs121918539 Achromatopsia 5 (ACHM5) [MIM:613093] PDE6C P51160 VAR_064744 p.Ile826Ser US - - PDE6C P51160 VAR_079307 p.Arg104Trp LP/P rs769506319 Achromatopsia 5 (ACHM5) [MIM:613093] PDE6C P51160 VAR_079309 p.Pro391Leu LP/P - Achromatopsia 5 (ACHM5) [MIM:613093] PDE6C P51160 VAR_079310 p.His602Leu LP/P rs267606934 Achromatopsia 5 (ACHM5) [MIM:613093] PDE6C P51160 VAR_079311 p.Glu790Lys LP/P rs267606936 Achromatopsia 5 (ACHM5) [MIM:613093] PDE6G P18545 VAR_009294 p.Pro27His LB/B - - PDE7A Q13946 VAR_056661 p.Gly76Glu LB/B rs11557049 - PDE8A O60658 VAR_069109 p.Glu112Gly LB/B rs17855018 - PDE8B O95263 VAR_066503 p.His305Pro LP/P rs121918360 Primary pigmented nodular adrenocortical disease 3 (PPNAD3) [MIM:614190] PDF Q9HBH1 VAR_060122 p.Trp11Arg LB/B rs8057004 - PDGFB P01127 VAR_014578 p.Ile88Val LB/B rs17565 - PDGFB P01127 VAR_070870 p.Leu9Arg LP/P - Basal ganglia calcification, idiopathic, 5 (IBGC5) [MIM:615483] PDGFB P01127 VAR_070871 p.Leu119Pro LP/P rs397515632 Basal ganglia calcification, idiopathic, 5 (IBGC5) [MIM:615483] PDGFD Q9GZP0 VAR_036418 p.Asp202Tyr US - A colorectal cancer sample PDGFD Q9GZP0 VAR_051563 p.Ile190Val LB/B rs35045740 - PDGFRA P16234 VAR_034378 p.Ser478Pro LB/B rs35597368 - PDGFRA P16234 VAR_042032 p.Gly79Asp LB/B rs36035373 - PDGFRA P16234 VAR_042033 p.Gly426Asp LB/B rs55865821 - PDGFRA P16234 VAR_042034 p.Arg764Cys LB/B rs34392012 - PDGFRA P16234 VAR_042035 p.Gly829Arg US - A glioblastoma multiforme sample PDGFRA P16234 VAR_042036 p.Glu996Lys US rs779173667 A metastatic melanoma sample PDGFRA P16234 VAR_042037 p.Asp1071Asn US rs376544204 A lung neuroendocrine carcinoma sample PDGFRA P16234 VAR_066460 p.Arg481Gly US - - PDGFRA P16234 VAR_066461 p.Leu507Pro US - - PDGFRA P16234 VAR_066462 p.Val561Asp LB/B rs121908586 - PDGFRA P16234 VAR_066463 p.Ile562Met US - - PDGFRA P16234 VAR_066464 p.His570Arg US - - PDGFRA P16234 VAR_066465 p.His650Gln US - - PDGFRA P16234 VAR_066466 p.Asn659Lys LB/B rs1057519700 - PDGFRA P16234 VAR_066467 p.Asn659Ser US - - PDGFRA P16234 VAR_066468 p.Leu705Pro US - - PDGFRA P16234 VAR_066469 p.Arg748Gly US - - PDGFRA P16234 VAR_066471 p.Asp842Val LB/B rs121908585 - PDGFRA P16234 VAR_066472 p.Asp842Tyr LB/B rs121913265 - PDGFRA P16234 VAR_066474 p.Tyr849Cys LP/P - Gastrointestinal stromal tumor (GIST) [MIM:606764] PDGFRA P16234 VAR_066475 p.Tyr849Ser US - - PDGFRA P16234 VAR_083158 p.Tyr555Cys LP/P rs121908589 GIST-plus syndrome (GISTPS) [MIM:175510] PDGFRA P16234 VAR_083159 p.Pro653Leu US - GIST-plus syndrome (GISTPS) [MIM:175510] PDGFRA P16234 VAR_083160 p.Asp846Tyr US rs121908588 GIST-plus syndrome (GISTPS) [MIM:175510] PDGFRB P09619 VAR_034377 p.Ile29Phe LB/B rs17110944 - PDGFRB P09619 VAR_035125 p.Ser180Phe LB/B rs17853027 - PDGFRB P09619 VAR_042027 p.Glu282Lys LB/B rs34586048 - PDGFRB P09619 VAR_042028 p.Glu485Lys LB/B rs41287110 - PDGFRB P09619 VAR_042029 p.Tyr589His US - A gastric adenocarcinoma sample PDGFRB P09619 VAR_042030 p.Asn718Tyr LB/B rs35322465 - PDGFRB P09619 VAR_042031 p.Thr882Ile US - A breast infiltrating ductal carcinoma sample PDGFRB P09619 VAR_049717 p.Pro345Ser LB/B rs2229558 - PDGFRB P09619 VAR_069320 p.Leu658Pro LP/P rs397509381 Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007] PDGFRB P09619 VAR_069321 p.Arg987Trp LP/P rs397509382 Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007] PDGFRB P09619 VAR_069925 p.Arg561Cys LP/P rs367543286 Myofibromatosis, infantile 1 (IMF1) [MIM:228550] PDGFRB P09619 VAR_069926 p.Pro660Thr LP/P rs144050370 Myofibromatosis, infantile 1 (IMF1) [MIM:228550] PDGFRB P09619 VAR_075395 p.Glu1071Val LP/P - Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007] PDGFRB P09619 VAR_075865 p.Pro584Arg LP/P rs863224946 Kosaki overgrowth syndrome (KOGS) [MIM:616592] PDGFRB P09619 VAR_075866 p.Val665Ala LP/P rs1554108211 Premature aging syndrome, Penttinen type (PENTT) [MIM:601812] PDGFRL Q15198 VAR_026052 p.His23Tyr LP/P rs137853148 Colorectal cancer (CRC) [MIM:114500] PDHA1 P08559 VAR_004949 p.Arg72Cys LP/P rs863224148 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004950 p.His113Asp LP/P - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004951 p.Gly162Arg LP/P rs866868610 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004952 p.Val167Met LP/P rs2063174067 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004953 p.Ala199Thr LP/P - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004954 p.Phe205Leu LP/P rs137853254 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004955 p.Met210Val LP/P rs794727843 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004956 p.Pro217Leu LP/P rs1131691792 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004957 p.Thr231Ala LP/P - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004958 p.Asp258Ala LP/P rs137853253 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004959 p.Arg263Gly LP/P rs137853259 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004960 p.Arg263Gln LP/P - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004961 p.His292Leu LP/P - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004962 p.Arg302Cys LP/P rs137853252 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004963 p.Arg302His LP/P rs1064794149 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004966 p.Arg378His LP/P rs137853250 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_010238 p.Arg10Pro LP/P rs137853257 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_021053 p.Tyr243Asn LP/P rs137853255 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_021054 p.Met282Leu LB/B rs2229137 - PDHA1 P08559 VAR_021055 p.Arg288His LP/P rs137853258 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_021056 p.Asp315Asn LP/P rs137853256 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_050436 p.Glu333Asp LB/B rs2228067 - PDHA1 P08559 VAR_069381 p.Ala136Thr US rs138727886 - PDHA2 P29803 VAR_034359 p.Arg376Gly LB/B rs17024795 - PDHA2 P29803 VAR_087365 p.Met227Val US rs200969445 Spermatogenic failure 70 (SPGF70) [MIM:619828] PDHB P11177 VAR_004967 p.Leu31Val LB/B - - PDHB P11177 VAR_021058 p.Pro344Ser LP/P rs28933391 Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111] PDHB P11177 VAR_030954 p.Tyr132Cys LP/P rs28935769 Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111] PDHX O00330 VAR_046619 p.Arg23Cys LB/B rs1049306 - PDHX O00330 VAR_046620 p.Thr101Ala LB/B rs11539202 - PDHX O00330 VAR_046621 p.Asp370Val LB/B rs17850649 - PDIA2 Q13087 VAR_048087 p.Pro39Ser LB/B rs45455191 - PDIA2 Q13087 VAR_048088 p.Thr119Arg LB/B rs45614840 - PDIA2 Q13087 VAR_048089 p.Glu185Lys LB/B rs419949 - PDIA2 Q13087 VAR_048090 p.Thr286Met LB/B rs2685127 - PDIA2 Q13087 VAR_048091 p.Pro382Ala LB/B rs45529833 - PDIA2 Q13087 VAR_048092 p.Arg388Gln LB/B rs400037 - PDIA2 Q13087 VAR_048093 p.Pro502Ser LB/B rs1048786 - PDIA3 P30101 VAR_020027 p.Lys415Arg LB/B rs6413485 - PDIA4 P13667 VAR_052580 p.Thr173Met LB/B rs2290971 - PDIA5 Q14554 VAR_052581 p.Thr391Met LB/B rs2292661 - PDIA6 Q15084 VAR_022152 p.Lys214Arg LB/B rs4807 - PDILT Q8N807 VAR_039937 p.Ala26Thr LB/B rs9926580 - PDILT Q8N807 VAR_039938 p.Glu106Gln US rs773495613 A colorectal cancer sample PDILT Q8N807 VAR_039939 p.Asp446Asn LB/B rs11648131 - PDILT Q8N807 VAR_039940 p.Val447Ile LB/B rs11865916 - PDILT Q8N807 VAR_039941 p.Leu475Arg LB/B rs4500734 - PDILT Q8N807 VAR_039942 p.Arg527Lys LB/B rs9652589 - PDILT Q8N807 VAR_039943 p.Gly529Glu LB/B rs9652588 - PDK1 Q15118 VAR_042295 p.Asn412Thr LB/B rs34250425 - PDK1 Q15118 VAR_050477 p.Ala134Thr LB/B rs35661499 - PDK2 Q15119 VAR_042296 p.Gly342Arg US rs17855787 A glioblastoma multiforme sample PDK3 Q15120 VAR_042297 p.Glu219Ala US - A head & neck squamous cell carcinoma sample PDK3 Q15120 VAR_070081 p.Lys114Thr LB/B rs146331370 - PDK3 Q15120 VAR_070082 p.Arg158His LP/P rs397515323 Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6) [MIM:300905] PDK3 Q15120 VAR_070083 p.Tyr334Ser LB/B - - PDK4 Q16654 VAR_042298 p.Ala17Val LB/B rs56391840 - PDK4 Q16654 VAR_042299 p.Leu19Met LB/B rs55761955 - PDK4 Q16654 VAR_042300 p.Asp109Gly LB/B rs34898343 - PDLIM1 O00151 VAR_022271 p.Asn175Ser LB/B rs2296961 - PDLIM3 Q53GG5 VAR_050166 p.Val127Met LB/B rs11944325 - PDLIM4 P50479 VAR_035205 p.Arg118Gly LB/B rs17851430 - PDLIM4 P50479 VAR_035206 p.Val184Ile LB/B rs175218 - PDLIM4 P50479 VAR_035207 p.Gly259Cys LB/B rs4877 - PDLIM4 P50479 VAR_050167 p.Arg142Cys LB/B rs1050805 - PDLIM5 Q96HC4 VAR_023779 p.Ser136Phe LB/B rs2452600 - PDLIM5 Q96HC4 VAR_046662 p.Ser319Leu LB/B rs1064238 - PDLIM5 Q96HC4 VAR_046663 p.Ala345Thr LB/B rs966845 - PDLIM5 Q96HC4 VAR_046664 p.Thr381Ala LB/B rs7690296 - PDLIM5 Q96HC4 VAR_046665 p.Pro388Ser LB/B rs7690464 - PDLIM5 Q96HC4 VAR_046666 p.Ser492Asn LB/B rs13107595 - PDLIM7 Q9NR12 VAR_036193 p.Lys450Asn US - A breast cancer sample PDLIM7 Q9NR12 VAR_050168 p.Ala326Thr LB/B rs2306764 - PDPN Q86YL7 VAR_028015 p.Ala105Gly LB/B rs2486188 - PDPN Q86YL7 VAR_028016 p.Ala147Gly LB/B rs2486188 - PDPR Q8NCN5 VAR_042504 p.Tyr109His LB/B rs2549532 - PDSS1 Q5T2R2 VAR_034879 p.Asp308Glu LP/P rs119463988 Coenzyme Q10 deficiency, primary, 2 (COQ10D2) [MIM:614651] PDSS2 Q86YH6 VAR_049645 p.Phe3Leu LB/B rs3734675 - PDSS2 Q86YH6 VAR_055398 p.Ser382Leu LP/P rs118203956 Coenzyme Q10 deficiency, primary, 3 (COQ10D3) [MIM:614652] PDX1 P52945 VAR_009309 p.Cys18Arg LB/B rs137852785 - PDX1 P52945 VAR_009310 p.Gln59Leu LB/B rs137852784 - PDX1 P52945 VAR_009311 p.Asp76Asn LB/B rs137852783 - PDX1 P52945 VAR_009312 p.Arg197His LB/B rs137852786 - PDXDC1 Q6P996 VAR_059252 p.Pro301Leu LB/B rs4985162 - PDXDC2P Q6P474 VAR_037159 p.Met209Val LB/B rs3169319 - PDXDC2P Q6P474 VAR_037160 p.Leu429Phe LB/B rs11648231 - PDXDC2P Q6P474 VAR_037161 p.Leu429Arg LB/B rs929843 - PDXK O00764 VAR_083156 p.Arg220Gln LP/P rs759333796 Neuropathy, hereditary motor and sensory, 6C, with optic atrophy (HMSN6C) [MIM:618511] PDXK O00764 VAR_083157 p.Ala228Thr LP/P rs757480516 Neuropathy, hereditary motor and sensory, 6C, with optic atrophy (HMSN6C) [MIM:618511] PDYN P01213 VAR_064913 p.Arg138Ser LP/P rs267606941 Spinocerebellar ataxia 23 (SCA23) [MIM:610245] PDYN P01213 VAR_064914 p.Leu211Ser LP/P rs267606940 Spinocerebellar ataxia 23 (SCA23) [MIM:610245] PDYN P01213 VAR_064915 p.Arg212Trp LP/P rs201486601 Spinocerebellar ataxia 23 (SCA23) [MIM:610245] PDYN P01213 VAR_064916 p.Arg215Cys LP/P rs267606939 Spinocerebellar ataxia 23 (SCA23) [MIM:610245] PDYN P01213 VAR_072266 p.Cys22Tyr LP/P rs773876922 Spinocerebellar ataxia 23 (SCA23) [MIM:610245] PDYN P01213 VAR_072267 p.Arg25Gln LB/B rs369559888 - PDYN P01213 VAR_072268 p.Arg206Cys LP/P rs575606358 Spinocerebellar ataxia 23 (SCA23) [MIM:610245] PDYN P01213 VAR_072269 p.Arg206His LP/P rs1004881058 Spinocerebellar ataxia 23 (SCA23) [MIM:610245] PDYN P01213 VAR_072270 p.Gly227Asp LP/P - Spinocerebellar ataxia 23 (SCA23) [MIM:610245] PDZD11 Q5EBL8 VAR_069422 p.Ser81Tyr LB/B rs1245281228 - PDZD2 O15018 VAR_031654 p.Gln1258Lys LB/B rs3101878 - PDZD2 O15018 VAR_031655 p.Thr1274Ala LB/B rs157496 - PDZD2 O15018 VAR_031656 p.Asp1343Glu LB/B rs12520467 - PDZD2 O15018 VAR_031657 p.Thr1425Met LB/B rs36097367 - PDZD2 O15018 VAR_031658 p.Ala1649Val LB/B rs3101873 - PDZD2 O15018 VAR_031659 p.Arg2247Gln LB/B rs10066063 - PDZD2 O15018 VAR_061691 p.Glu1178Gly LB/B rs57158698 - PDZD4 Q76G19 VAR_035952 p.Arg39Cys US rs782272149 A breast cancer sample PDZD7 Q9H5P4 VAR_080820 p.Arg66Leu US rs1426679303 Deafness, autosomal recessive, 57 (DFNB57) [MIM:618003] PDZD7 Q9H5P4 VAR_080821 p.Gly103Arg LP/P rs148695069 Deafness, autosomal recessive, 57 (DFNB57) [MIM:618003] PDZD7 Q9H5P4 VAR_080822 p.Gly228Arg LP/P rs753034799 Deafness, autosomal recessive, 57 (DFNB57) [MIM:618003] PDZD7 Q9H5P4 VAR_080823 p.Met285Arg LP/P rs1554835827 Deafness, autosomal recessive, 57 (DFNB57) [MIM:618003] PDZD8 Q8NEN9 VAR_051265 p.Val806Ala LB/B rs35664484 - PDZD8 Q8NEN9 VAR_051266 p.Arg897Gln LB/B rs363294 - PDZRN3 Q9UPQ7 VAR_020965 p.Ala783Val LB/B rs3205537 - PDZRN4 Q6ZMN7 VAR_020966 p.Gly429Ser LB/B rs285584 - PDZRN4 Q6ZMN7 VAR_035951 p.Gly784Arg US - A colorectal cancer sample PEAK1 Q9H792 VAR_041817 p.Gly213Arg LB/B rs35459975 - PEAK1 Q9H792 VAR_041818 p.Val240Ile LB/B rs56129428 - PEAK1 Q9H792 VAR_041819 p.Ser440Pro LB/B rs35335169 - PEAK1 Q9H792 VAR_041820 p.His611Gln US - A bladder carcinoma NOS sample PEAK1 Q9H792 VAR_041821 p.Ser792Ile LB/B rs34885462 - PEAK1 Q9H792 VAR_041822 p.Asp836Glu LB/B rs56388121 - PEAK1 Q9H792 VAR_041823 p.Ser1035Phe US - A metastatic melanoma sample PEAK1 Q9H792 VAR_041824 p.Arg1071Lys LB/B rs12909704 - PEAK1 Q9H792 VAR_041825 p.Thr1077Pro LB/B rs56133554 - PEAK1 Q9H792 VAR_041826 p.Pro1145Leu US - A metastatic melanoma sample PEAK1 Q9H792 VAR_041827 p.Pro1408Gln LB/B rs56079860 - PEAK1 Q9H792 VAR_041828 p.Ser1542Thr LB/B rs1867780 - PEAK1 Q9H792 VAR_041829 p.Arg1699Gly LB/B rs34004337 - PEAR1 Q5VY43 VAR_048978 p.Ser234Pro LB/B rs1952294 - PEAR1 Q5VY43 VAR_048979 p.Arg885His LB/B rs11264581 - PEAR1 Q5VY43 VAR_048980 p.Asn903Asp LB/B rs12137505 - PEAR1 Q5VY43 VAR_061158 p.Asn848Lys LB/B rs822442 - PEBP1 P30086 VAR_006048 p.Ser9Asn LB/B - - PEBP4 Q96S96 VAR_050467 p.Lys125Glu LB/B rs1129474 - PEBP4 Q96S96 VAR_050468 p.Glu211Gly LB/B rs1047406 - PECAM1 P16284 VAR_013145 p.Val125Leu LB/B rs281865545 - PECAM1 P16284 VAR_059402 p.Cys304Tyr LB/B rs7209607 - PECAM1 P16284 VAR_059403 p.Ser563Ile LB/B rs12953 - PECAM1 P16284 VAR_059404 p.Ser563Asn LB/B rs12953 - PECAM1 P16284 VAR_059405 p.Arg670Gly LB/B rs1131012 - PECR Q9BY49 VAR_021535 p.Glu149Lys LB/B rs1429148 - PECR Q9BY49 VAR_021536 p.Phe297Leu LB/B rs9288513 - PEDS1 A5PLL7 VAR_059732 p.Trp7Gly LB/B rs2026757 - PEG3 Q9GZU2 VAR_027397 p.Ala235Thr LB/B rs2191432 - PEG3 Q9GZU2 VAR_027398 p.Val839Leu LB/B rs7251798 - PEG3 Q9GZU2 VAR_027399 p.Asp983Gly LB/B rs10412932 - PEG3 Q9GZU2 VAR_027400 p.Arg1576Leu LB/B rs34051133 - PEG3 Q9GZU2 VAR_035562 p.Arg594His US rs754473044 A colorectal cancer sample PEG3 Q9GZU2 VAR_052725 p.Glu624Gly LB/B rs36016896 - PEG3 Q9GZU2 VAR_052726 p.Asn947Ser LB/B rs35851866 - PEG3 Q9GZU2 VAR_052727 p.Ala1456Val LB/B rs34831553 - PEG3 Q9GZU2 VAR_052728 p.Arg1576His LB/B rs34051133 - PELI3 Q8N2H9 VAR_061502 p.Val287Met LB/B rs34989499 - PELO Q9BRX2 VAR_019777 p.Leu221Met LB/B rs1499280 - PELP1 Q8IZL8 VAR_027766 p.Thr1126Ser LB/B rs9436 - PEMT Q9UBM1 VAR_016093 p.Val175Met LB/B rs7946 - PEMT Q9UBM1 VAR_032771 p.Val58Ile LB/B rs897453 - PEMT Q9UBM1 VAR_055372 p.Arg3Trp LB/B rs70959686 - PEMT Q9UBM1 VAR_055373 p.Gly194Arg LB/B rs70965427 - PEMT Q9UBM1 VAR_060083 p.Val58Leu LB/B rs897453 - PENK P01210 VAR_014584 p.Gly247Asp LB/B rs1800567 - PENK P01210 VAR_048935 p.Thr83Asn LB/B rs11998459 - PEPD P12955 VAR_004404 p.Asp276Asn LP/P rs121917721 Prolidase deficiency (PD) [MIM:170100] PEPD P12955 VAR_004405 p.Gly448Arg LP/P rs121917724 Prolidase deficiency (PD) [MIM:170100] PEPD P12955 VAR_011614 p.Arg184Gln LP/P rs121917722 Prolidase deficiency (PD) [MIM:170100] PEPD P12955 VAR_011615 p.Gly278Asp LP/P rs121917723 Prolidase deficiency (PD) [MIM:170100] PEPD P12955 VAR_014723 p.Leu435Phe LB/B rs17570 - PEPD P12955 VAR_051574 p.Arg388His LB/B rs2230062 - PER1 O15534 VAR_036038 p.Glu696Gln US - A breast cancer sample PER1 O15534 VAR_036039 p.Asn985Ser US rs1323588262 A breast cancer sample PER1 O15534 VAR_036040 p.Ser1060Leu US rs761958964 A colorectal cancer sample PER1 O15534 VAR_047899 p.Ala962Pro LB/B rs2585405 - PER1 O15534 VAR_047900 p.Arg968His LB/B rs3027193 - PER1 O15534 VAR_079176 p.His422Gln US rs1464745710 - PER2 O15055 VAR_024558 p.Gly1244Glu LB/B rs934945 - PER2 O15055 VAR_029080 p.Ser662Gly LP/P rs121908635 Advanced sleep phase syndrome, familial, 1 (FASPS1) [MIM:604348] PER2 O15055 VAR_036041 p.Leu823Val US - A breast cancer sample PER2 O15055 VAR_051575 p.Ala5Ser LB/B rs35572922 - PER2 O15055 VAR_051576 p.Val729Ile LB/B rs4429421 - PER2 O15055 VAR_051577 p.Val903Ile LB/B rs35333999 - PER2 O15055 VAR_051578 p.Phe949Tyr LB/B rs35998480 - PER3 P56645 VAR_015514 p.Pro856Ala LB/B rs228697 - PER3 P56645 VAR_022428 p.Leu827Pro LB/B rs228696 - PER3 P56645 VAR_025532 p.Val639Gly LB/B rs10462020 - PER3 P56645 VAR_025533 p.Met1028Thr LB/B rs2640909 - PER3 P56645 VAR_025534 p.His1149Arg LB/B rs10462021 - PER3 P56645 VAR_028728 p.Ala1007Thr LB/B rs1776342 - PER3 P56645 VAR_028729 p.Thr1010Ile LB/B rs12033719 - PER3 P56645 VAR_028730 p.Ser1081Cys LB/B rs2640905 - PER3 P56645 VAR_076417 p.Pro414Ala LB/B rs150812083 - PER3 P56645 VAR_076418 p.His416Arg LB/B rs139315125 - PERP Q96FX8 VAR_052341 p.Pro143Arg LB/B rs648802 - PERP Q96FX8 VAR_070891 p.Pro174Leu LB/B rs75183345 - PERP Q96FX8 VAR_085250 p.Gly156Arg LP/P rs1775596006 Erythrokeratodermia variabilis et progressiva 7 (EKVP7) [MIM:619209] PES1 O00541 VAR_034375 p.Thr264Ser LB/B rs42942 - PES1 O00541 VAR_053570 p.Asp370His LB/B rs11541876 - PES1 O00541 VAR_053571 p.Ala411Thr LB/B rs34123894 - PEX1 O43933 VAR_008876 p.Leu664Pro LP/P rs121434455 Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100] PEX1 O43933 VAR_008876 p.Leu664Pro LP/P rs121434455 Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539] PEX1 O43933 VAR_008877 p.Gly843Asp LP/P rs61750420 Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100] PEX1 O43933 VAR_008877 p.Gly843Asp LP/P rs61750420 Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539] PEX1 O43933 VAR_008877 p.Gly843Asp LP/P rs61750420 Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100] PEX1 O43933 VAR_034376 p.Ile696Met LB/B rs35996821 - PEX1 O43933 VAR_048113 p.Ile640Arg LB/B rs4559173 - PEX1 O43933 VAR_058376 p.Leu590Arg LP/P - Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100] PEX1 O43933 VAR_058377 p.Gly593Arg LP/P rs61750407 Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100] PEX1 O43933 VAR_058378 p.Arg798Gly LP/P rs61750419 Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100] PEX1 O43933 VAR_058379 p.Arg948Gln LB/B rs535271603 - PEX1 O43933 VAR_058380 p.Ala1237Glu LP/P rs1473858573 Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100] PEX1 O43933 VAR_074108 p.Arg581Pro LP/P rs370483961 Heimler syndrome 1 (HMLR1) [MIM:234580] PEX1 O43933 VAR_074109 p.Leu705Trp LP/P rs863225084 Heimler syndrome 1 (HMLR1) [MIM:234580] PEX1 O43933 VAR_077503 p.Ile989Thr LP/P rs61750427 Heimler syndrome 1 (HMLR1) [MIM:234580] PEX1 O43933 VAR_077503 p.Ile989Thr LP/P rs61750427 Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539] PEX1 O43933 VAR_077504 p.Arg998Gln LP/P rs61750429 Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539] PEX1 O43933 VAR_087133 p.Leu597Pro LP/P - Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100] PEX1 O43933 VAR_087135 p.Arg949Trp LP/P rs866184460 Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100] PEX1 O43933 VAR_087136 p.Gly970Ala LP/P - Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100] PEX10 O60683 VAR_007805 p.His290Gln LP/P rs61752095 Peroxisome biogenesis disorder 6B (PBD6B) [MIM:614871] PEX10 O60683 VAR_058388 p.Thr274Ala LB/B rs34154371 - PEX10 O60683 VAR_087145 p.Leu177Arg LP/P - Peroxisome biogenesis disorder 6B (PBD6B) [MIM:614871] PEX10 O60683 VAR_087147 p.Cys276Phe LP/P - Peroxisome biogenesis disorder 6B (PBD6B) [MIM:614871] PEX10 O60683 VAR_087148 p.Cys296Phe LP/P - Peroxisome biogenesis disorder 6A (PBD6A) [MIM:614870] PEX10 O60683 VAR_087149 p.Arg311Gln LP/P - Peroxisome biogenesis disorder 6B (PBD6B) [MIM:614871] PEX11G Q96HA9 VAR_024560 p.Cys91Trp LB/B rs2303146 - PEX12 O00623 VAR_031998 p.Ser320Phe LP/P rs28936697 Peroxisome biogenesis disorder 3B (PBD3B) [MIM:266510] PEX12 O00623 VAR_050495 p.Leu245Ile LB/B rs12941376 - PEX12 O00623 VAR_058389 p.Arg34Ser LP/P rs147530802 Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:614859] PEX13 Q92968 VAR_009306 p.Ile326Thr LP/P rs61752115 Peroxisome biogenesis disorder 11B (PBD11B) [MIM:614885] PEX13 Q92968 VAR_087140 p.Trp313Gly LP/P - Peroxisome biogenesis disorder 11B (PBD11B) [MIM:614885] PEX14 O75381 VAR_051269 p.Ala117Ser LB/B rs12061667 - PEX14 O75381 VAR_051270 p.Ala150Ser LB/B rs11539793 - PEX14 O75381 VAR_051271 p.Arg320Lys LB/B rs12070353 - PEX16 Q9Y5Y5 VAR_034145 p.Val254Leu LB/B rs35214605 - PEX16 Q9Y5Y5 VAR_051272 p.Val103Met LB/B rs11553094 - PEX16 Q9Y5Y5 VAR_061841 p.Val116Ile LB/B rs10742772 - PEX16 Q9Y5Y5 VAR_069209 p.Pro289Thr LP/P - Peroxisome biogenesis disorder 8B (PBD8B) [MIM:614877] PEX16 Q9Y5Y5 VAR_069210 p.Tyr331Cys LP/P rs397514472 Peroxisome biogenesis disorder 8B (PBD8B) [MIM:614877] PEX19 P40855 VAR_085044 p.Ala85Val US rs11550119 - PEX2 P28328 VAR_011389 p.Glu55Lys LP/P rs61752119 Peroxisome biogenesis disorder 5B (PBD5B) [MIM:614867] PEX2 P28328 VAR_060784 p.Cys184Arg LB/B rs10087163 - PEX2 P28328 VAR_087144 p.Cys247Arg LP/P - Peroxisome biogenesis disorder 5A (PBD5A) [MIM:614866] PEX26 Q7Z412 VAR_018647 p.Leu45Pro LP/P rs61752132 Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873] PEX26 Q7Z412 VAR_018648 p.Gly89Arg LP/P rs28940308 Peroxisome biogenesis disorder 7A (PBD7A) [MIM:614872] PEX26 Q7Z412 VAR_018649 p.Arg98Trp LP/P rs62641228 Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873] PEX26 Q7Z412 VAR_018649 p.Arg98Trp LP/P rs62641228 Peroxisome biogenesis disorder complementation group 8 (PBD-CG8) [MIM:614872] PEX26 Q7Z412 VAR_034146 p.Leu153Val LB/B rs12484657 - PEX26 Q7Z412 VAR_087137 p.Leu44Pro LP/P - Peroxisome biogenesis disorder complementation group 8 (PBD-CG8) [MIM:614872] PEX26 Q7Z412 VAR_087138 p.Leu116Gln LP/P - Peroxisome biogenesis disorder 7A (PBD7A) [MIM:614872] PEX26 Q7Z412 VAR_087139 p.Pro117Leu LP/P - Peroxisome biogenesis disorder complementation group 8 (PBD-CG8) [MIM:614872] PEX3 P56589 VAR_009304 p.Gly138Glu LP/P - Peroxisome biogenesis disorder 10A (PBD10A) [MIM:614882] PEX3 P56589 VAR_053572 p.Gln82Arg LB/B rs35220041 - PEX3 P56589 VAR_078657 p.Gly331Arg LP/P rs1057523689 Peroxisome biogenesis disorder 10B (PBD10B) [MIM:617370] PEX5 P50542 VAR_007543 p.Asn526Lys LP/P rs61752138 Peroxisome biogenesis disorder 2B (PBD2B) [MIM:202370] PEX5 P50542 VAR_031328 p.Ser600Trp LP/P - Peroxisome biogenesis disorder 2B (PBD2B) [MIM:202370] PEX5 P50542 VAR_087152 p.Phe218Ser US - - PEX5L Q8IYB4 VAR_035865 p.Ala226Thr US rs146906651 A colorectal cancer sample PEX6 Q13608 VAR_007918 p.Arg812Gln LP/P rs61753229 Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862] PEX6 Q13608 VAR_007919 p.Arg812Trp LP/P rs61753228 Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862] PEX6 Q13608 VAR_048114 p.Ala809Val LB/B rs35830695 - PEX6 Q13608 VAR_048115 p.Val882Ile LB/B rs2274516 - PEX6 Q13608 VAR_048116 p.Pro939Gln LB/B rs1129187 - PEX6 Q13608 VAR_058381 p.Ala79Pro LB/B rs61752141 - PEX6 Q13608 VAR_058382 p.Pro274Leu LP/P rs61753219 Heimler syndrome 2 (HMLR2) [MIM:616617] PEX6 Q13608 VAR_058383 p.Arg601Gln US rs34324426 Heimler syndrome 2 (HMLR2) [MIM:616617] PEX6 Q13608 VAR_058384 p.Asn849Thr LP/P rs267608244 Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862] PEX6 Q13608 VAR_058385 p.Arg860Gln LP/P rs61753231 Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862] PEX6 Q13608 VAR_058386 p.Arg860Trp LP/P rs61753230 Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862] PEX6 Q13608 VAR_058387 p.Ala924Ser LB/B rs34551839 - PEX6 Q13608 VAR_074110 p.Arg644Trp LP/P rs769896492 Heimler syndrome 2 (HMLR2) [MIM:616617] PEX6 Q13608 VAR_075872 p.Leu534Pro LP/P rs387906809 Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862] PEX6 Q13608 VAR_077505 p.Val92Gly US rs886037780 Heimler syndrome 2 (HMLR2) [MIM:616617] PEX6 Q13608 VAR_077506 p.Arg99Leu US rs886037781 Heimler syndrome 2 (HMLR2) [MIM:616617] PEX6 Q13608 VAR_077507 p.Phe218Leu US rs886037779 Heimler syndrome 2 (HMLR2) [MIM:616617] PEX6 Q13608 VAR_077508 p.Gly413Val LP/P rs1554127531 Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862] PEX6 Q13608 VAR_077509 p.Thr572Ile LP/P rs61753224 Heimler syndrome 2 (HMLR2) [MIM:616617] PEX6 Q13608 VAR_077510 p.Cys905Phe LP/P rs886037782 Heimler syndrome 2 (HMLR2) [MIM:616617] PEX7 O00628 VAR_007725 p.Gly217Arg US rs121909152 Rhizomelic chondrodysplasia punctata 1 (RCDP1) [MIM:215100] PEX7 O00628 VAR_007726 p.Ala218Val LP/P rs121909151 Rhizomelic chondrodysplasia punctata 1 (RCDP1) [MIM:215100] PEX7 O00628 VAR_016810 p.Thr14Pro LP/P rs61753233 Peroxisome biogenesis disorder 9B (PBD9B) [MIM:614879] PFAS O15067 VAR_055008 p.Pro19Ser LB/B rs9891699 - PFAS O15067 VAR_055009 p.Pro367Leu LB/B rs4791641 - PFAS O15067 VAR_055010 p.Phe481Tyr LB/B rs35217368 - PFAS O15067 VAR_055011 p.Leu621Pro LB/B rs11078738 - PFKFB4 Q16877 VAR_036075 p.Asn181Lys US - A breast cancer sample PFKL P17858 VAR_006070 p.Gly81Ala LB/B - - PFKL P17858 VAR_006071 p.Arg151Trp LB/B rs755851304 - PFKL P17858 VAR_030872 p.Asp237Val LB/B rs1057037 - PFKM P08237 VAR_006063 p.Arg39Leu LP/P rs121918193 Glycogen storage disease 7 (GSD7) [MIM:232800] PFKM P08237 VAR_006064 p.Arg39Pro LP/P rs121918193 Glycogen storage disease 7 (GSD7) [MIM:232800] PFKM P08237 VAR_006065 p.Arg100Gln LB/B rs2228500 - PFKM P08237 VAR_006066 p.Gly209Asp LP/P rs767265360 Glycogen storage disease 7 (GSD7) [MIM:232800] PFKM P08237 VAR_006067 p.Asp543Ala LP/P rs121918194 Glycogen storage disease 7 (GSD7) [MIM:232800] PFKM P08237 VAR_006068 p.Trp686Cys LP/P rs121918196 Glycogen storage disease 7 (GSD7) [MIM:232800] PFKM P08237 VAR_006069 p.Arg696His LB/B rs41291971 - PFKM P08237 VAR_072239 p.Gly57Val LP/P - Glycogen storage disease 7 (GSD7) [MIM:232800] PFKM P08237 VAR_072240 p.Ser180Cys LP/P - Glycogen storage disease 7 (GSD7) [MIM:232800] PFKM P08237 VAR_072241 p.Asp309Gly LP/P rs1169383137 Glycogen storage disease 7 (GSD7) [MIM:232800] PFKM P08237 VAR_072242 p.Asp591Ala LP/P - Glycogen storage disease 7 (GSD7) [MIM:232800] PFN1 P07737 VAR_068925 p.Cys71Gly LP/P rs387907264 Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] PFN1 P07737 VAR_068926 p.Met114Thr LP/P rs387907265 Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] PFN1 P07737 VAR_068927 p.Glu117Gly US rs140547520 Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] PFN1 P07737 VAR_068928 p.Gly118Val LP/P rs387907266 Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] PGAM2 P15259 VAR_006088 p.Glu89Ala LP/P rs104894030 Glycogen storage disease 10 (GSD10) [MIM:261670] PGAM2 P15259 VAR_006089 p.Arg90Trp LP/P rs104894034 Glycogen storage disease 10 (GSD10) [MIM:261670] PGAM2 P15259 VAR_013103 p.Gly97Asp LP/P rs77938727 Glycogen storage disease 10 (GSD10) [MIM:261670] PGAM4 Q8N0Y7 VAR_014355 p.Arg40Cys LB/B rs782408548 - PGAM4 Q8N0Y7 VAR_014356 p.Arg90Gln LB/B rs5959129 - PGAM4 Q8N0Y7 VAR_014357 p.Ile175Thr LB/B - - PGAP2 Q9UHJ9 VAR_069664 p.Arg16Trp LP/P rs773359554 Hyperphosphatasia with impaired intellectual development syndrome 3 (HPMRS3) [MIM:614207] PGAP2 Q9UHJ9 VAR_069665 p.Tyr99Cys LP/P rs879255232 Hyperphosphatasia with impaired intellectual development syndrome 3 (HPMRS3) [MIM:614207] PGAP2 Q9UHJ9 VAR_069666 p.Leu127Ser LP/P rs879255233 Hyperphosphatasia with impaired intellectual development syndrome 3 (HPMRS3) [MIM:614207] PGAP2 Q9UHJ9 VAR_069667 p.Thr160Ile LP/P rs780188037 Hyperphosphatasia with impaired intellectual development syndrome 3 (HPMRS3) [MIM:614207] PGAP2 Q9UHJ9 VAR_069668 p.Arg177Pro LP/P rs774843232 Hyperphosphatasia with impaired intellectual development syndrome 3 (HPMRS3) [MIM:614207] PGAP2 Q9UHJ9 VAR_088424 p.Thr50Met LB/B rs760866870 - PGAP3 Q96FM1 VAR_071155 p.Gly92Asp LP/P rs587777251 Hyperphosphatasia with impaired intellectual development syndrome 4 (HPMRS4) [MIM:615716] PGAP3 Q96FM1 VAR_071156 p.Pro105Arg LP/P rs371549948 Hyperphosphatasia with impaired intellectual development syndrome 4 (HPMRS4) [MIM:615716] PGAP3 Q96FM1 VAR_071157 p.Asp305Gly LP/P rs587777252 Hyperphosphatasia with impaired intellectual development syndrome 4 (HPMRS4) [MIM:615716] PGAP3 Q96FM1 VAR_084138 p.His284Tyr US rs759541820 - PGAP6 Q9HCN3 VAR_025307 p.Thr136Ala LB/B rs11248931 - PGAP6 Q9HCN3 VAR_025308 p.Ile310Val LB/B rs2071915 - PGAP6 Q9HCN3 VAR_057810 p.Arg567Trp LB/B rs3743887 - PGBD1 Q96JS3 VAR_032384 p.Gly244Glu LB/B rs3800324 - PGBD1 Q96JS3 VAR_032385 p.Gln248Glu LB/B rs3800325 - PGBD1 Q96JS3 VAR_032386 p.Pro256Leu LB/B rs3800326 - PGBD1 Q96JS3 VAR_032387 p.Asn398Ser LB/B rs33932084 - PGBD1 Q96JS3 VAR_032388 p.Met592Ile LB/B rs16893917 - PGBD1 Q96JS3 VAR_032389 p.Ile678Val LB/B rs1997660 - PGBD1 Q96JS3 VAR_032390 p.His806Asp LB/B rs6456811 - PGBD1 Q96JS3 VAR_051273 p.Gly244Arg LB/B rs3800324 - PGBD3 Q8N328 VAR_032391 p.Arg382Lys LB/B rs4253072 - PGBD3 Q8N328 VAR_035621 p.Asp415Gly US - A breast cancer sample PGBD3 Q8N328 VAR_051274 p.Gln446Glu LB/B rs11101143 - PGD P52209 VAR_048104 p.Ala268Ser LB/B rs11547610 - PGGT1B P53609 VAR_034381 p.Ile103Val LB/B rs34918686 - PGK1 P00558 VAR_006076 p.Leu88Pro LP/P rs137852531 Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006077 p.Gly158Val LP/P rs137852532 Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006078 p.Asp164Val LP/P rs137852538 Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006080 p.Arg206Pro LP/P rs137852529 Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006081 p.Glu252Ala LP/P - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006082 p.Val266Met LP/P rs431905501 Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006083 p.Asp268Asn LB/B rs137852528 - PGK1 P00558 VAR_006084 p.Asp285Val LP/P rs137852535 Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006085 p.Asp315Asn LP/P - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006086 p.Cys316Arg LP/P rs137852533 Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006087 p.Thr352Asn LB/B rs137852530 - PGLYRP1 O75594 VAR_050497 p.Val34Gly LB/B rs34180629 - PGLYRP2 Q96PD5 VAR_050498 p.Thr46Ala LB/B rs3813135 - PGLYRP2 Q96PD5 VAR_050499 p.Arg99Gln LB/B rs733731 - PGLYRP2 Q96PD5 VAR_050500 p.Thr257Asn LB/B rs28404490 - PGLYRP2 Q96PD5 VAR_050501 p.Met270Lys LB/B rs892145 - PGLYRP2 Q96PD5 VAR_050502 p.Arg476Trp LB/B rs2304200 - PGLYRP2 Q96PD5 VAR_055231 p.Arg394Gln LB/B rs34440547 - PGLYRP3 Q96LB9 VAR_024561 p.Gly126Ser LB/B rs843971 - PGLYRP3 Q96LB9 VAR_061515 p.Ala35Thr LB/B rs55991125 - PGLYRP4 Q96LB8 VAR_031586 p.Gln92Arg LB/B rs3006453 - PGLYRP4 Q96LB8 VAR_031587 p.Gly192Val LB/B rs3006448 - PGLYRP4 Q96LB8 VAR_031588 p.Val213Ile LB/B rs12063091 - PGLYRP4 Q96LB8 VAR_031589 p.Asp301Asn LB/B rs35347202 - PGLYRP4 Q96LB8 VAR_033283 p.Ile13Leu LB/B rs3006458 - PGLYRP4 Q96LB8 VAR_050503 p.Pro3Leu LB/B rs12096209 - PGM1 P36871 VAR_006090 p.Lys68Met LB/B rs200390982 - PGM1 P36871 VAR_006091 p.Arg221Cys LB/B rs1126728 - PGM1 P36871 VAR_006092 p.Tyr420His LB/B rs11208257 - PGM1 P36871 VAR_034380 p.Val501Ile LB/B rs6676290 - PGM1 P36871 VAR_050496 p.Ile88Val LB/B rs855314 - PGM1 P36871 VAR_062280 p.Thr115Ala LP/P rs121918371 Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921] PGM1 P36871 VAR_069219 p.Gly121Arg LP/P rs398122912 Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921] PGM1 P36871 VAR_071635 p.Thr19Ala LP/P rs1320810473 Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921] PGM1 P36871 VAR_071636 p.Asn38Tyr LP/P rs587777402 Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921] PGM1 P36871 VAR_071637 p.Gln41Arg LP/P rs1300651770 Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921] PGM1 P36871 VAR_071638 p.Asp62His LP/P rs587777403 Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921] PGM1 P36871 VAR_071639 p.Asp263Gly LP/P rs1465877146 Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921] PGM1 P36871 VAR_071640 p.Asp263Tyr LP/P rs587777404 Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921] PGM1 P36871 VAR_071641 p.Gly291Arg LP/P rs772768778 Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921] PGM1 P36871 VAR_071642 p.Gly330Arg LP/P rs777164338 Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921] PGM1 P36871 VAR_071643 p.Glu377Lys LP/P - Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921] PGM1 P36871 VAR_071644 p.Glu388Lys LP/P rs1301021797 Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921] PGM1 P36871 VAR_071645 p.Leu516Pro LP/P rs587777401 Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921] PGM2 Q96G03 VAR_027968 p.Gly10Asp LB/B rs17856324 - PGM2 Q96G03 VAR_027969 p.Glu488Asp LB/B rs10001580 - PGM2L1 Q6PCE3 VAR_028094 p.Leu14Pro LB/B rs12049823 - PGM2L1 Q6PCE3 VAR_028095 p.Val531Ile LB/B rs592644 - PGM2L1 Q6PCE3 VAR_056665 p.Asn608Ile LB/B rs36014178 - PGM3 O95394 VAR_013489 p.Asp466Asn LB/B rs473267 - PGM3 O95394 VAR_071359 p.Leu83Ser LP/P rs267608260 Immunodeficiency 23 (IMD23) [MIM:615816] PGM3 O95394 VAR_071360 p.Asp239His LP/P rs869312886 Immunodeficiency 23 (IMD23) [MIM:615816] PGM3 O95394 VAR_071361 p.Asn246Ser LP/P rs587777562 Immunodeficiency 23 (IMD23) [MIM:615816] PGM3 O95394 VAR_071362 p.Asp297Glu LP/P rs587777415 Immunodeficiency 23 (IMD23) [MIM:615816] PGM3 O95394 VAR_071364 p.Gln451Arg LP/P rs587777565 Immunodeficiency 23 (IMD23) [MIM:615816] PGM3 O95394 VAR_071365 p.Glu501Gln LP/P rs587777413 Immunodeficiency 23 (IMD23) [MIM:615816] PGM3 O95394 VAR_071366 p.Asp502Tyr LP/P rs267608261 Immunodeficiency 23 (IMD23) [MIM:615816] PGPEP1L A6NFU8 VAR_043463 p.Ala142Val LB/B rs2715423 - PGPEP1L A6NFU8 VAR_043464 p.Glu169Gln LB/B rs1521484 - PGR P06401 VAR_014627 p.Arg625Ile LB/B rs2020874 - PGR P06401 VAR_014628 p.Ser865Leu LB/B rs2020880 - PGR P06401 VAR_016117 p.Ser344Thr LB/B rs3740753 - PGR P06401 VAR_016118 p.Val660Leu LB/B rs1042838 - PGR P06401 VAR_019221 p.Ala50Thr LB/B rs11571143 - PGR P06401 VAR_019222 p.Ala120Val LB/B rs11571144 - PGR P06401 VAR_019223 p.Pro186Leu LB/B rs11571145 - PGR P06401 VAR_019224 p.Met301Arg LB/B rs11571146 - PGR P06401 VAR_019225 p.Ala444Ser LB/B rs11571150 - PGR P06401 VAR_019226 p.Val529Leu LB/B rs11571151 - PGR P06401 VAR_019227 p.Gln536Pro LB/B rs11571152 - PGR P06401 VAR_019228 p.Leu651Val LB/B rs11571222 - PGR P06401 VAR_025555 p.Cys347Ser LB/B rs11571147 - PHACTR1 Q9C0D0 VAR_053645 p.Ile247Met LB/B rs17602409 - PHACTR1 Q9C0D0 VAR_069379 p.Arg521Cys LP/P rs748743403 Developmental and epileptic encephalopathy 70 (DEE70) [MIM:618298] PHACTR1 Q9C0D0 VAR_081810 p.Asn479Ile LP/P rs1562103192 Developmental and epileptic encephalopathy 70 (DEE70) [MIM:618298] PHACTR1 Q9C0D0 VAR_081811 p.Leu500Pro LP/P rs1562114406 Developmental and epileptic encephalopathy 70 (DEE70) [MIM:618298] PHACTR2 O75167 VAR_045628 p.Pro165Ser LB/B rs2073214 - PHACTR2 O75167 VAR_053646 p.Ile449Val LB/B rs2295201 - PHACTR3 Q96KR7 VAR_021969 p.Pro154Leu LB/B rs2277759 - PHAX Q9H814 VAR_051871 p.Arg82Cys LB/B rs3734173 - PHB1 P35232 VAR_006479 p.Val88Ala US rs121918373 A breast cancer sample PHB1 P35232 VAR_006480 p.Arg105His US rs121918372 A breast cancer sample PHC1 P78364 VAR_054503 p.Thr693Ala LB/B rs1049925 - PHC1 P78364 VAR_070566 p.Leu992Phe LP/P rs587777036 Microcephaly 11, primary, autosomal recessive (MCPH11) [MIM:615414] PHC2 Q8IXK0 VAR_051276 p.Pro254Ser LB/B rs10914692 - PHC2 Q8IXK0 VAR_051277 p.Val475Met LB/B rs12026290 - PHETA2 Q6ICB4 VAR_028822 p.Ala188Gly LB/B rs1807493 - PHEX P78562 VAR_006738 p.Cys77Ser LP/P - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_006739 p.Cys85Tyr LP/P rs137853269 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_006740 p.Leu138Pro LP/P - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_006741 p.Arg166Cys LP/P rs751230094 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_006742 p.Phe252Ser LP/P rs267606945 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_006743 p.Met253Ile LP/P rs267606946 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_006744 p.Pro534Leu LP/P rs886041363 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_006745 p.Gly579Arg LP/P rs875989883 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_006746 p.Gly579Val LP/P rs1057517980 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010616 p.Phe80Ser LP/P - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010617 p.Cys85Phe LP/P - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010618 p.Cys85Arg LP/P rs1556014287 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010619 p.Ser141Pro LP/P - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010620 p.Cys142Phe LP/P - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010621 p.Leu160Arg LP/P - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010622 p.Asp237Gly LP/P - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010623 p.Tyr317Phe LP/P - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010626 p.Trp530Cys LP/P rs1556091855 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010627 p.Leu555Pro LP/P rs137853270 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010628 p.Arg567Pro LP/P rs760870713 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010629 p.Ala573Asp LP/P rs1556135308 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010630 p.Gln621Arg LP/P - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010631 p.Arg651Pro LP/P rs748792378 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010633 p.Asn680Lys LP/P rs1556151526 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010634 p.Cys693Tyr LP/P rs1556200989 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010635 p.Ala720Thr LP/P - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010636 p.Phe731Tyr LP/P - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010637 p.Cys733Ser LP/P rs1057517981 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010638 p.Cys746Trp LP/P - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010639 p.Trp749Arg LP/P rs1556206403 Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHF1 O43189 VAR_034382 p.Arg304Lys LB/B rs3116713 - PHF1 O43189 VAR_044500 p.Thr42Ser LB/B rs6934613 - PHF13 Q86YI8 VAR_055285 p.Lys20Glu LB/B rs17853850 - PHF14 O94880 VAR_018480 p.Lys115Arg LB/B rs218966 - PHF2 O75151 VAR_047553 p.Thr56Pro LB/B rs34279404 - PHF2 O75151 VAR_051598 p.Ser1058Leu LB/B rs35236745 - PHF20 Q9BVI0 VAR_051600 p.Val605Met LB/B rs17431878 - PHF21A Q96BD5 VAR_025515 p.Arg347His LB/B rs3736508 - PHF21A Q96BD5 VAR_083199 p.Gly429Ser US - Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS) [MIM:618725] PHF21B Q96EK2 VAR_051601 p.Gly127Ser LB/B rs8135982 - PHF3 Q92576 VAR_022040 p.His1834Tyr LB/B rs3734881 - PHF3 Q92576 VAR_051599 p.Val525Ile LB/B rs34288820 - PHF6 Q8IWS0 VAR_017633 p.Cys45Tyr LP/P rs132630299 Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] PHF6 Q8IWS0 VAR_017634 p.Cys99Phe LP/P rs132630298 Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] PHF6 Q8IWS0 VAR_017635 p.His229Arg LP/P rs104894918 Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] PHF6 Q8IWS0 VAR_017636 p.Lys234Glu LP/P rs104894917 Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] PHF6 Q8IWS0 VAR_017637 p.Arg257Gly LP/P rs104894919 Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] PHF6 Q8IWS0 VAR_076933 p.Cys305Phe LP/P rs587777489 Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] PHF7 Q9BWX1 VAR_035957 p.Lys369Asn US - A breast cancer sample PHF8 Q9UPP1 VAR_062250 p.Phe315Ser LP/P rs121918524 Intellectual developmental disorder, X-linked, syndromic, Siderius type (MRXSSD) [MIM:300263] PHGDH O43175 VAR_013461 p.Val425Met LP/P rs121907988 Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815] PHGDH O43175 VAR_059026 p.Arg135Trp LP/P rs267606949 Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815] PHGDH O43175 VAR_059027 p.Val261Met LP/P rs267606947 Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815] PHGDH O43175 VAR_059028 p.Ala373Thr LP/P rs201553627 Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815] PHGDH O43175 VAR_059029 p.Gly377Ser LP/P rs267606948 Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815] PHGDH O43175 VAR_059030 p.Val490Met LP/P rs121907987 Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815] PHGDH O43175 VAR_071819 p.Gly140Arg LP/P rs587777770 Neu-Laxova syndrome 1 (NLS1) [MIM:256520] PHGDH O43175 VAR_071820 p.Arg163Gln LP/P rs587777483 Neu-Laxova syndrome 1 (NLS1) [MIM:256520] PHIP Q8WWQ0 VAR_034683 p.Val663Gly LB/B rs7747479 - PHIP Q8WWQ0 VAR_034684 p.Thr874Ile LB/B rs11547228 - PHIP Q8WWQ0 VAR_034685 p.Leu1093Pro LB/B rs9350797 - PHIP Q8WWQ0 VAR_034686 p.Thr1135Pro LB/B rs34841569 - PHIP Q8WWQ0 VAR_034687 p.Asn1445Thr LB/B rs36048894 - PHIP Q8WWQ0 VAR_036238 p.Val469Ile US - A colorectal cancer sample PHIP Q8WWQ0 VAR_036239 p.Arg1767Ile US - A colorectal cancer sample PHIP Q8WWQ0 VAR_080981 p.Phe17Ser US rs878854420 Chung-Jansen syndrome (CHUJANS) [MIM:617991] PHIP Q8WWQ0 VAR_080982 p.Arg110Cys US rs768324201 Chung-Jansen syndrome (CHUJANS) [MIM:617991] PHIP Q8WWQ0 VAR_080983 p.Arg110Ser US rs768324201 Chung-Jansen syndrome (CHUJANS) [MIM:617991] PHIP Q8WWQ0 VAR_080989 p.Gln1263Glu US - Chung-Jansen syndrome (CHUJANS) [MIM:617991] PHKA1 P46020 VAR_020856 p.Asp299Val LP/P rs137852547 Glycogen storage disease 9D (GSD9D) [MIM:300559] PHKA2 P46019 VAR_006177 p.His132Pro LP/P rs137852291 Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_006178 p.His132Tyr LP/P rs137852292 Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_006180 p.Arg186Cys LP/P rs137852294 Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_006181 p.Arg186His LP/P rs137852290 Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_006183 p.Asp299Gly LP/P rs137852289 Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_006185 p.Thr1114Ile LP/P rs137852293 Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_006186 p.Pro1205Leu LP/P rs137852288 Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_012269 p.Lys189Glu LP/P rs137852295 Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_012271 p.Gly193Val LP/P - Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_012272 p.Arg295His LP/P rs797044877 Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_012273 p.Pro399Ser LP/P - Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_012276 p.Glu1125Lys LP/P rs1555988071 Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_012277 p.Gly1207Trp LP/P - Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_024563 p.Glu38Gln LB/B rs17313469 - PHKA2 P46019 VAR_050518 p.Gly416Arg LB/B rs16980929 - PHKA2 P46019 VAR_062394 p.Pro498Leu LP/P rs199792389 Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_062395 p.Pro869Arg LP/P rs777137574 Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_062396 p.Arg916Trp LP/P rs1569297427 Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_062398 p.Met1113Ile LP/P - Glycogen storage disease 9A (GSD9A) [MIM:306000] PHKB Q93100 VAR_006187 p.Tyr770Cys LB/B rs16945474 - PHKB Q93100 VAR_015536 p.Ala118Pro LP/P rs121918022 Glycogen storage disease 9B (GSD9B) [MIM:261750] PHKB Q93100 VAR_020857 p.Gln657Lys LB/B rs34667348 - PHKB Q93100 VAR_034056 p.Glu820Val LB/B rs9934849 - PHKB Q93100 VAR_036486 p.Leu867Val US - A breast cancer sample PHKB Q93100 VAR_036487 p.Gly877Arg US rs150902092 A breast cancer sample PHKG1 Q16816 VAR_040994 p.Val48Met US rs368370244 A colorectal adenocarcinoma sample PHKG1 Q16816 VAR_040995 p.Arg323Cys LB/B rs149458708 - PHKG2 P15735 VAR_009517 p.Val106Glu LP/P rs137853589 Glycogen storage disease 9C (GSD9C) [MIM:613027] PHKG2 P15735 VAR_009518 p.Gly189Glu LP/P rs137853588 Glycogen storage disease 9C (GSD9C) [MIM:613027] PHKG2 P15735 VAR_020854 p.Glu157Lys LP/P rs752961445 Glycogen storage disease 9C (GSD9C) [MIM:613027] PHKG2 P15735 VAR_020855 p.Asp215Asn LP/P rs767427889 Glycogen storage disease 9C (GSD9C) [MIM:613027] PHKG2 P15735 VAR_040996 p.Ala317Thr LB/B rs759992249 - PHKG2 P15735 VAR_051658 p.Glu247Gly LB/B rs34006569 - PHLDA3 Q9Y5J5 VAR_050515 p.Arg28Gln LB/B rs35383942 - PHLDB2 Q86SQ0 VAR_024760 p.Pro941Ser LB/B rs3749298 - PHLDB3 Q6NSJ2 VAR_056671 p.Gln239Arg LB/B rs11083711 - PHLPP1 O60346 VAR_056725 p.Ser1118Thr LB/B rs9950585 - PHOSPHO2 Q8TCD6 VAR_062092 p.Lys206Glu LB/B rs56036676 - PHOX2A O14813 VAR_019014 p.Ala72Val LP/P rs104894269 Fibrosis of extraocular muscles, congenital, 2 (CFEOM2) [MIM:602078] PHOX2A O14813 VAR_019016 p.Pro256Gln LB/B rs1041507260 - PHOX2B Q99453 VAR_026969 p.Arg100Leu LB/B rs104893855 - PHOX2B Q99453 VAR_026970 p.Arg141Gly LB/B rs28939716 - PHOX2B Q99453 VAR_046900 p.Arg141Gln LP/P rs1733941453 Central hypoventilation syndrome, congenital, 1 (CCHS1) [MIM:209880] PHOX2B Q99453 VAR_046901 p.Gln143Arg LP/P - Central hypoventilation syndrome, congenital, 1 (CCHS1) [MIM:209880] PHOX2B Q99453 VAR_046902 p.Gly197Asp LB/B rs104893856 - PHRF1 Q9P1Y6 VAR_030727 p.Glu1231Ala LB/B rs7116027 - PHRF1 Q9P1Y6 VAR_030728 p.Ala1374Val LB/B rs7123948 - PHRF1 Q9P1Y6 VAR_030729 p.Val1449Ala LB/B rs11246212 - PHYH O14832 VAR_005525 p.Asn269His LP/P rs104894179 Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_005526 p.Arg275Trp LP/P rs104894178 Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017482 p.Pro29Ser LB/B rs28938169 - PHYH O14832 VAR_017483 p.Pro173Ser LP/P - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017484 p.Gln176Lys LP/P rs28939672 Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017485 p.Asp177Gly LP/P rs770262329 Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017486 p.Trp193Arg LP/P - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017487 p.Glu197Gln LP/P - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017488 p.Ile199Phe LP/P - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017489 p.Gly204Ser LP/P rs104894173 Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017490 p.His220Tyr LP/P rs767216891 Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017491 p.Arg245Gln LB/B rs62619919 - PHYH O14832 VAR_017492 p.Phe257Ser LP/P rs1211564430 Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017493 p.Arg275Gln LP/P rs104894174 Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_018619 p.Asn83Tyr LP/P - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_018631 p.His175Arg LP/P - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_050528 p.Gly215Ser LB/B rs7901902 - PHYHD1 Q5SRE7 VAR_050529 p.Arg222Trp LB/B rs10988159 - PHYHIP Q92561 VAR_018475 p.Arg21Ser LB/B rs11547660 - PHYHIPL Q96FC7 VAR_043817 p.Val342Leu LB/B rs2452505 - PHYKPL Q8IUZ5 VAR_048233 p.His126Arg LB/B rs7707147 - PHYKPL Q8IUZ5 VAR_069543 p.Gly240Arg LP/P rs201105857 Phosphohydroxylysinuria (PHLU) [MIM:615011] PHYKPL Q8IUZ5 VAR_069544 p.Glu437Val LP/P rs142181517 Phosphohydroxylysinuria (PHLU) [MIM:615011] PI16 Q6UXB8 VAR_032337 p.Thr50Pro LB/B rs1405069 - PI16 Q6UXB8 VAR_032338 p.Leu416Val LB/B rs16889318 - PI3 P19957 VAR_024695 p.Thr34Pro LB/B rs2664581 - PI3 P19957 VAR_052947 p.Thr17Met LB/B rs17333103 - PI4K2B Q8TCG2 VAR_031974 p.Ser78Pro LB/B rs313549 - PI4KA P42356 VAR_050531 p.Met380Val LB/B rs17819211 - PI4KA P42356 VAR_059549 p.Val1851Leu LB/B rs2539908 - PI4KA P42356 VAR_074640 p.Asp1854Asn LP/P rs747119727 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) [MIM:616531] PI4KA P42356 VAR_086468 p.Arg119Trp US rs759091754 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) [MIM:616531] PI4KA P42356 VAR_086469 p.Ser472Arg US rs1298440445 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) [MIM:616531] PI4KA P42356 VAR_086472 p.Leu777Pro LP/P rs1490645147 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) [MIM:616531] PI4KA P42356 VAR_086474 p.Glu1152Lys US rs1351749039 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) [MIM:616531] PI4KA P42356 VAR_086476 p.Ala1198Thr US - Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) [MIM:616531] PI4KA P42356 VAR_086477 p.His1295Arg US - Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) [MIM:616531] PI4KA P42356 VAR_086478 p.Val1556Met US rs144363917 Spastic paraplegia 84, autosomal recessive (SPG84) [MIM:619621] PI4KA P42356 VAR_086479 p.Tyr1623Asp LP/P rs776650691 Gastrointestinal defects and immunodeficiency syndrome 2 (GIDID2) [MIM:619708] PI4KA P42356 VAR_086480 p.Asp1664Asn LP/P rs888913273 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) [MIM:616531] PI4KA P42356 VAR_086481 p.Thr1720Ile US - Spastic paraplegia 84, autosomal recessive (SPG84) [MIM:619621] PI4KA P42356 VAR_086482 p.Arg1733Trp US rs142690596 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) [MIM:616531] PI4KA P42356 VAR_086483 p.Lys1808Thr LP/P - Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) [MIM:616531] PI4KA P42356 VAR_086485 p.Gly1925Glu LP/P - Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) [MIM:616531] PI4KA P42356 VAR_086486 p.Gly1925Arg US rs773127016 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) [MIM:616531] PI4KA P42356 VAR_086487 p.Tyr1937Cys LP/P - Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) [MIM:616531] PI4KA P42356 VAR_086488 p.Asn1987Ser US rs770450191 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) [MIM:616531] PI4KA P42356 VAR_086489 p.Met2041Thr US rs1601301648 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) [MIM:616531] PI4KAP2 A4QPH2 VAR_039391 p.Glu223Gln LB/B rs2930770 - PI4KB Q9UBF8 VAR_088345 p.Gln121Arg LP/P - Deafness, autosomal dominant, 87 (DFNA87) [MIM:620281] PI4KB Q9UBF8 VAR_088346 p.Val449Gly US - Deafness, autosomal dominant, 87 (DFNA87) [MIM:620281] PI4KB Q9UBF8 VAR_088347 p.Glu682Lys US - Deafness, autosomal dominant, 87 (DFNA87) [MIM:620281] PI4KB Q9UBF8 VAR_088348 p.Met754Arg US - Deafness, autosomal dominant, 87 (DFNA87) [MIM:620281] PIAS2 O75928 VAR_056693 p.Val207Ala LB/B rs16940108 - PIAS3 Q9Y6X2 VAR_050535 p.Ser390Cys LB/B rs17354559 - PIBF1 Q8WXW3 VAR_051279 p.Ile167Val LB/B rs1372000 - PIBF1 Q8WXW3 VAR_051280 p.Arg405Gln LP/P rs17089782 Joubert syndrome 33 (JBTS33) [MIM:617767] PIBF1 Q8WXW3 VAR_051281 p.Ile630Val LB/B rs11544631 - PIBF1 Q8WXW3 VAR_073952 p.Glu89Gln LB/B rs865883692 - PIBF1 Q8WXW3 VAR_080441 p.Asp637Ala LP/P rs987735817 Joubert syndrome 33 (JBTS33) [MIM:617767] PICALM Q13492 VAR_028191 p.Thr158Pro LB/B rs12800974 - PICALM Q13492 VAR_028192 p.Ser383Phe LB/B rs12222608 - PICALM Q13492 VAR_028193 p.Trp578Cys LB/B rs1043858 - PICALM Q13492 VAR_028194 p.Gln579Glu LB/B rs1043859 - PICALM Q13492 VAR_028195 p.Phe641Leu LB/B rs556337 - PIDD1 Q9HB75 VAR_028031 p.Gln331Arg LB/B rs10902221 - PIDD1 Q9HB75 VAR_087346 p.Arg815Trp LP/P - Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly (MRT75) [MIM:619827] PIDD1 Q9HB75 VAR_087347 p.Arg862Trp LP/P - Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly (MRT75) [MIM:619827] PIEZO1 Q92508 VAR_069822 p.Gly718Ser LP/P rs755885744 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380] PIEZO1 Q92508 VAR_069823 p.Gly782Ser LP/P rs200970763 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380] PIEZO1 Q92508 VAR_069824 p.Arg808Gln LP/P rs202103485 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380] PIEZO1 Q92508 VAR_069825 p.Ser1117Leu LP/P rs587777765 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380] PIEZO1 Q92508 VAR_069826 p.Arg1358Pro LP/P rs587776990 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380] PIEZO1 Q92508 VAR_069827 p.Ala2003Asp LP/P - Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380] PIEZO1 Q92508 VAR_069828 p.Ala2020Thr LP/P rs587776989 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380] PIEZO1 Q92508 VAR_069829 p.Ala2020Val LP/P rs587777764 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380] PIEZO1 Q92508 VAR_069830 p.Thr2127Met LP/P rs587776991 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380] PIEZO1 Q92508 VAR_069832 p.Met2225Arg LP/P rs587776987 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380] PIEZO1 Q92508 VAR_069833 p.Arg2456His LP/P rs587776988 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380] PIEZO1 Q92508 VAR_069834 p.Arg2488Gln LP/P rs749288233 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380] PIEZO1 Q92508 VAR_076407 p.Leu939Met US rs201226914 Lymphatic malformation 6 (LMPHM6) [MIM:616843] PIEZO1 Q92508 VAR_076408 p.Pro2430Leu US rs869025601 Lymphatic malformation 6 (LMPHM6) [MIM:616843] PIEZO1 Q92508 VAR_076409 p.Arg2456Cys US - Lymphatic malformation 6 (LMPHM6) [MIM:616843] PIEZO1 Q92508 VAR_076410 p.Phe2458Leu US rs577860843 Lymphatic malformation 6 (LMPHM6) [MIM:616843] PIEZO1 Q92508 VAR_088146 p.Arg2245Gln LB/B rs2290901 - PIEZO1 Q92508 VAR_088147 p.Glu2392Lys LB/B rs528448732 - PIEZO1 Q92508 VAR_088148 p.Gly2394Ser LB/B rs201950081 - PIEZO1 Q92508 VAR_088149 p.Glu2407Lys LB/B rs200291894 - PIEZO1 Q92508 VAR_088150 p.Glu2407Gln LB/B rs200291894 - PIEZO2 Q9H5I5 VAR_033925 p.Val2463Ile LB/B rs3748428 - PIEZO2 Q9H5I5 VAR_070938 p.Ile802Phe LP/P rs587777076 Arthrogryposis, distal, 5 (DA5) [MIM:108145] PIEZO2 Q9H5I5 VAR_071039 p.Val1354Ile LB/B rs7234309 - PIEZO2 Q9H5I5 VAR_071302 p.Arg2686Cys LP/P rs587777451 Marden-Walker syndrome (MWKS) [MIM:248700] PIEZO2 Q9H5I5 VAR_071303 p.Arg2686His LP/P rs587777450 Arthrogryposis, distal, 3 (DA3) [MIM:114300] PIEZO2 Q9H5I5 VAR_071304 p.Arg2718Leu LP/P rs587777452 Arthrogryposis, distal, 5 (DA5) [MIM:108145] PIEZO2 Q9H5I5 VAR_071305 p.Arg2718Pro LP/P rs587777452 Arthrogryposis, distal, 5 (DA5) [MIM:108145] PIEZO2 Q9H5I5 VAR_071306 p.Ser2739Pro LP/P rs587777454 Arthrogryposis, distal, 5 (DA5) [MIM:108145] PIEZO2 Q9H5I5 VAR_071817 p.Met712Val LP/P rs587777453 Arthrogryposis, distal, 5 (DA5) [MIM:108145] PIEZO2 Q9H5I5 VAR_077843 p.Arg1685Pro LP/P rs886039823 Arthrogryposis, distal, with impaired proprioception and touch (DAIPT) [MIM:617146] PIF1 Q9H611 VAR_033206 p.Ile640Asn LB/B rs17802279 - PIGA P37287 VAR_005531 p.Ser155Phe LP/P - Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] PIGA P37287 VAR_005532 p.Asn297Asp LP/P - Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] PIGA P37287 VAR_015436 p.Asp40His LP/P - Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] PIGA P37287 VAR_015437 p.Gly48Ala LP/P - Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] PIGA P37287 VAR_015438 p.Gly48Asp LP/P - Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] PIGA P37287 VAR_015439 p.Gly48Val LP/P - Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] PIGA P37287 VAR_015440 p.His128Arg LP/P - Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] PIGA P37287 VAR_015441 p.Gly239Arg LP/P - Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] PIGA P37287 VAR_015442 p.Arg19Trp LP/P rs34422225 Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] PIGA P37287 VAR_071069 p.Arg77Leu LP/P rs587777398 Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868] PIGA P37287 VAR_071070 p.Pro93Leu LP/P rs587777400 Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868] PIGA P37287 VAR_071071 p.Arg119Trp LP/P rs587777396 Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868] PIGA P37287 VAR_071072 p.Ile206Phe LP/P rs201119959 Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868] PIGA P37287 VAR_078230 p.Ala135Val US - - PIGA P37287 VAR_078721 p.Leu355Ser US - Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868] PIGA P37287 VAR_087043 p.Arg77Gln LP/P - Neurodevelopmental disorder with epilepsy and hemochromatosis (NEDEPH) [MIM:301072] PIGA P37287 VAR_087044 p.Ser127Leu US - Neurodevelopmental disorder with epilepsy and hemochromatosis (NEDEPH) [MIM:301072] PIGA P37287 VAR_087045 p.Leu344Pro LP/P - Neurodevelopmental disorder with epilepsy and hemochromatosis (NEDEPH) [MIM:301072] PIGB Q92521 VAR_027027 p.Ile68Leu LB/B rs17851556 - PIGB Q92521 VAR_027028 p.Met162Thr LB/B rs2290344 - PIGB Q92521 VAR_027029 p.Trp299Leu LB/B rs678892 - PIGB Q92521 VAR_027030 p.Leu484Ser LB/B rs17851554 - PIGB Q92521 VAR_027031 p.Lys551Thr LB/B rs2444042 - PIGB Q92521 VAR_049224 p.Ser502Gly LB/B rs652397 - PIGB Q92521 VAR_083070 p.Arg71Gln LP/P rs369838467 Developmental and epileptic encephalopathy 80 (DEE80) [MIM:618580] PIGB Q92521 VAR_083071 p.Ser90Pro LP/P - Developmental and epileptic encephalopathy 80 (DEE80) [MIM:618580] PIGB Q92521 VAR_083073 p.Asp155His US rs372158001 Developmental and epileptic encephalopathy 80 (DEE80) [MIM:618580] PIGB Q92521 VAR_083074 p.Arg232His LP/P rs758196959 Developmental and epileptic encephalopathy 80 (DEE80) [MIM:618580] PIGB Q92521 VAR_083076 p.Val286Leu LP/P rs1595791368 Developmental and epileptic encephalopathy 80 (DEE80) [MIM:618580] PIGB Q92521 VAR_083077 p.Ala388Pro LP/P rs1595805026 Developmental and epileptic encephalopathy 80 (DEE80) [MIM:618580] PIGB Q92521 VAR_083078 p.His407Arg LP/P rs1566960044 Developmental and epileptic encephalopathy 80 (DEE80) [MIM:618580] PIGB Q92521 VAR_083079 p.Ile537Met US rs2056056414 Developmental and epileptic encephalopathy 80 (DEE80) [MIM:618580] PIGC Q92535 VAR_011360 p.Pro266Ser LB/B rs1063412 - PIGC Q92535 VAR_080521 p.Leu189Trp LP/P rs1553259614 Glycosylphosphatidylinositol biosynthesis defect 16 (GPIBD16) [MIM:617816] PIGC Q92535 VAR_080522 p.Leu212Pro LP/P rs1553259602 Glycosylphosphatidylinositol biosynthesis defect 16 (GPIBD16) [MIM:617816] PIGF Q07326 VAR_085810 p.Pro172Arg LP/P - Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (OORS) [MIM:619356] PIGG Q5H8A4 VAR_027022 p.Arg458His LB/B rs13115344 - PIGG Q5H8A4 VAR_027023 p.Cys610Arg LB/B rs7666425 - PIGG Q5H8A4 VAR_027024 p.Val699Ile LB/B rs13114026 - PIGG Q5H8A4 VAR_027025 p.Phe932Ser LB/B rs1127410 - PIGG Q5H8A4 VAR_057680 p.Ser55Tyr LB/B rs34120878 - PIGG Q5H8A4 VAR_060086 p.Val731Ile LB/B rs34916638 - PIGG Q5H8A4 VAR_060087 p.Ile881Thr LB/B rs34623004 - PIGG Q5H8A4 VAR_076775 p.Arg669Cys LP/P rs372392424 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) [MIM:616917] PIGG Q5H8A4 VAR_087224 p.Thr124Met US rs370385328 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) [MIM:616917] PIGG Q5H8A4 VAR_087225 p.Asn138Ser LP/P rs148712954 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) [MIM:616917] PIGG Q5H8A4 VAR_087226 p.His214Tyr LP/P - Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) [MIM:616917] PIGG Q5H8A4 VAR_087227 p.Gly270Asp LP/P - Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) [MIM:616917] PIGG Q5H8A4 VAR_087228 p.Met271Arg LP/P rs1406989563 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) [MIM:616917] PIGG Q5H8A4 VAR_087229 p.Gly278Arg LP/P rs552500897 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) [MIM:616917] PIGG Q5H8A4 VAR_087232 p.Met344Leu US - Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) [MIM:616917] PIGG Q5H8A4 VAR_087233 p.Ser497Leu US rs755547556 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) [MIM:616917] PIGG Q5H8A4 VAR_087235 p.Val531Met US rs143362968 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) [MIM:616917] PIGG Q5H8A4 VAR_087237 p.Arg681Trp US rs899791968 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) [MIM:616917] PIGG Q5H8A4 VAR_087238 p.Glu696Asp US - Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) [MIM:616917] PIGG Q5H8A4 VAR_087239 p.Gln851Pro LP/P rs150802299 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) [MIM:616917] PIGH Q14442 VAR_080993 p.Ser103Pro LP/P rs776038451 Glycosylphosphatidylinositol biosynthesis defect 17 (GPIBD17) [MIM:618010] PIGK Q92643 VAR_051518 p.Thr16Ala LB/B rs12723684 - PIGK Q92643 VAR_084274 p.Ser53Phe LP/P rs1656295216 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS) [MIM:618879] PIGK Q92643 VAR_084275 p.Leu86Pro US - Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS) [MIM:618879] PIGK Q92643 VAR_084276 p.Ala87Val LP/P rs772948495 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS) [MIM:618879] PIGK Q92643 VAR_084277 p.Asp88Asn LP/P rs771836178 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS) [MIM:618879] PIGK Q92643 VAR_084278 p.Tyr160Ser LP/P rs1164656857 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS) [MIM:618879] PIGK Q92643 VAR_084279 p.Ala184Val US rs780683566 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS) [MIM:618879] PIGK Q92643 VAR_084280 p.Met246Lys US - Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS) [MIM:618879] PIGK Q92643 VAR_084281 p.Cys275Arg LP/P rs1654968072 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS) [MIM:618879] PIGL Q9Y2B2 VAR_068221 p.Leu167Pro LP/P rs145303331 Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome (CHIME) [MIM:280000] PIGM Q9H3S5 VAR_027026 p.Phe365Leu LB/B rs12409352 - PIGN O95427 VAR_053573 p.Lys162Glu LB/B rs17069506 - PIGN O95427 VAR_053574 p.His229Asp LB/B rs9320001 - PIGN O95427 VAR_053575 p.Leu469Phe LB/B rs3862712 - PIGN O95427 VAR_053576 p.Ile470Leu LB/B rs3862712 - PIGN O95427 VAR_053577 p.Phe904Cys LB/B rs34231046 - PIGN O95427 VAR_053578 p.Phe904Leu LB/B rs34231046 - PIGN O95427 VAR_066402 p.Arg709Gln LP/P rs397514475 Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) [MIM:614080] PIGO Q8TEQ8 VAR_036332 p.Leu686Met US - A colorectal cancer sample PIGO Q8TEQ8 VAR_068809 p.Leu957Phe LP/P rs142164373 Hyperphosphatasia with impaired intellectual development syndrome 2 (HPMRS2) [MIM:614749] PIGO Q8TEQ8 VAR_071074 p.Thr130Asn US - - PIGO Q8TEQ8 VAR_079410 p.Arg119Trp LP/P rs757441073 Hyperphosphatasia with impaired intellectual development syndrome 2 (HPMRS2) [MIM:614749] PIGO Q8TEQ8 VAR_079411 p.Met255Ile US rs1829550863 - PIGO Q8TEQ8 VAR_079412 p.Met344Lys US rs779525065 Hyperphosphatasia with impaired intellectual development syndrome 2 (HPMRS2) [MIM:614749] PIGO Q8TEQ8 VAR_079413 p.Asn370Ser LP/P rs1214104267 Hyperphosphatasia with impaired intellectual development syndrome 2 (HPMRS2) [MIM:614749] PIGO Q8TEQ8 VAR_079415 p.His871Pro US rs909488930 Hyperphosphatasia with impaired intellectual development syndrome 2 (HPMRS2) [MIM:614749] PIGO Q8TEQ8 VAR_079416 p.Lys1047Glu LP/P - Hyperphosphatasia with impaired intellectual development syndrome 2 (HPMRS2) [MIM:614749] PIGP P57054 VAR_050538 p.Tyr118Cys LB/B rs16994704 - PIGP P57054 VAR_050539 p.Arg136Ser LB/B rs2276231 - PIGP P57054 VAR_061521 p.Thr9Ala LB/B rs2507733 - PIGP P57054 VAR_079291 p.Met25Thr LP/P rs768633670 Developmental and epileptic encephalopathy 55 (DEE55) [MIM:617599] PIGQ Q9BRB3 VAR_015596 p.Thr14Ala LB/B rs2071979 - PIGQ Q9BRB3 VAR_053579 p.Cys592Arg LB/B rs1045277 - PIGQ Q9BRB3 VAR_053580 p.Cys668Arg LB/B rs710924 - PIGQ Q9BRB3 VAR_053581 p.Cys668Tyr LB/B rs710925 - PIGR P01833 VAR_003920 p.Ala580Val LB/B rs291102 - PIGR P01833 VAR_025283 p.Gly365Ser LB/B rs2275531 - PIGR P01833 VAR_032822 p.Thr555Ile LB/B rs7542760 - PIGS Q96S52 VAR_036510 p.Met159Ile US - A breast cancer sample PIGS Q96S52 VAR_053582 p.Arg253His LB/B rs34669811 - PIGS Q96S52 VAR_081579 p.Leu34Pro LP/P rs1567618413 Glycosylphosphatidylinositol biosynthesis defect 18 (GPIBD18) [MIM:618143] PIGS Q96S52 VAR_081581 p.Glu308Gly LP/P rs1426262136 Glycosylphosphatidylinositol biosynthesis defect 18 (GPIBD18) [MIM:618143] PIGT Q969N2 VAR_053583 p.Ala473Thr LB/B rs36056071 - PIGT Q969N2 VAR_070448 p.Thr183Pro LP/P rs587777027 Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT Q969N2 VAR_088157 p.Phe157Val US - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT Q969N2 VAR_088158 p.Arg172Cys LP/P - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT Q969N2 VAR_088159 p.Glu184Lys LP/P - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT Q969N2 VAR_088160 p.Glu237Gln LP/P - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT Q969N2 VAR_088162 p.Gly360Val LP/P - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT Q969N2 VAR_088163 p.Gly366Arg LP/P - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT Q969N2 VAR_088164 p.Gly366Trp LP/P - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT Q969N2 VAR_088165 p.Asn374Asp US - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT Q969N2 VAR_088166 p.His376Pro US - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT Q969N2 VAR_088167 p.Arg448Trp LP/P - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT Q969N2 VAR_088168 p.Leu491His US - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT Q969N2 VAR_088169 p.Arg507Gln LP/P - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT Q969N2 VAR_088170 p.Arg507Trp LP/P - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT Q969N2 VAR_088171 p.Asn527His US - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT Q969N2 VAR_088172 p.Asn527Ser US - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT Q969N2 VAR_088173 p.Val528Met LP/P - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGU Q9H490 VAR_083263 p.Ile70Lys LP/P rs1600656141 Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis (NEDBSS) [MIM:618590] PIGU Q9H490 VAR_083264 p.Asn383Lys LP/P rs756912205 Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis (NEDBSS) [MIM:618590] PIGV Q9NUD9 VAR_064190 p.Gln256Lys LP/P rs267606952 Hyperphosphatasia with impaired intellectual development syndrome 1 (HPMRS1) [MIM:239300] PIGV Q9NUD9 VAR_064191 p.Ala341Glu LP/P rs139073416 Hyperphosphatasia with impaired intellectual development syndrome 1 (HPMRS1) [MIM:239300] PIGV Q9NUD9 VAR_064192 p.Ala341Val LP/P rs139073416 Hyperphosphatasia with impaired intellectual development syndrome 1 (HPMRS1) [MIM:239300] PIGV Q9NUD9 VAR_064193 p.His385Pro LP/P rs267606951 Hyperphosphatasia with impaired intellectual development syndrome 1 (HPMRS1) [MIM:239300] PIGW Q7Z7B1 VAR_071933 p.Thr71Pro LP/P rs587777733 Glycosylphosphatidylinositol biosynthesis defect 11 (GPIBD11) [MIM:616025] PIGW Q7Z7B1 VAR_071934 p.Met167Val LP/P rs200024253 Glycosylphosphatidylinositol biosynthesis defect 11 (GPIBD11) [MIM:616025] PIGX Q8TBF5 VAR_027035 p.Pro155Leu LB/B rs2291397 - PIGX Q8TBF5 VAR_027036 p.Glu197Asp LB/B rs17852091 - PIGY Q3MUY2 VAR_076351 p.Leu46Pro LP/P rs869025322 Hyperphosphatasia with impaired intellectual development syndrome 6 (HPMRS6) [MIM:616809] PIGZ Q86VD9 VAR_027032 p.Arg340Gln LB/B rs4916589 - PIGZ Q86VD9 VAR_027033 p.Val417Ala LB/B rs1147238 - PIGZ Q86VD9 VAR_027034 p.Met487Ile LB/B rs17855662 - PIGZ Q86VD9 VAR_054965 p.Ala266Thr LB/B rs574365 - PIH1D1 Q9NWS0 VAR_035410 p.Met9Leu LB/B rs2293012 - PIH1D1 Q9NWS0 VAR_035411 p.Gly10Glu LB/B rs2293013 - PIH1D1 Q9NWS0 VAR_035412 p.Val224Ile LB/B rs13394 - PIH1D1 Q9NWS0 VAR_035413 p.Asp230Glu LB/B rs34198213 - PIH1D1 Q9NWS0 VAR_035414 p.Pro287Leu LB/B rs7462 - PIH1D2 Q8WWB5 VAR_035415 p.Ala117Val LB/B rs1425917 - PIK3AP1 Q6ZUJ8 VAR_044035 p.Glu21Lys LB/B rs17112076 - PIK3AP1 Q6ZUJ8 VAR_044036 p.Ala83Ser LB/B rs3748229 - PIK3AP1 Q6ZUJ8 VAR_044037 p.Glu551Lys LB/B rs3748233 - PIK3AP1 Q6ZUJ8 VAR_044038 p.Lys638Arg LB/B rs12784975 - PIK3C2A O00443 VAR_023333 p.Thr1415Ala LB/B rs11604561 - PIK3C2G O75747 VAR_056676 p.Pro146Leu LB/B rs11044004 - PIK3C2G O75747 VAR_056677 p.Ala261Glu LB/B rs7133666 - PIK3C2G O75747 VAR_060323 p.Pro952Leu LB/B rs12312266 - PIK3C2G O75747 VAR_060324 p.Val1331Gly LB/B rs12099555 - PIK3C2G O75747 VAR_060325 p.Asn1483Thr LB/B rs12816860 - PIK3CA P42336 VAR_026166 p.Arg38His LP/P rs772110575 Colorectal cancer (CRC) [MIM:114500] PIK3CA P42336 VAR_026167 p.Arg88Gln LP/P rs121913287 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] PIK3CA P42336 VAR_026168 p.Gly106Val LP/P rs1057519930 Colorectal cancer (CRC) [MIM:114500] PIK3CA P42336 VAR_026169 p.Tyr343Cys US - - PIK3CA P42336 VAR_026170 p.Ile391Met LB/B rs2230461 - PIK3CA P42336 VAR_026171 p.Cys420Arg US rs121913272 CLAPO syndrome (CLAPO) [MIM:613089] PIK3CA P42336 VAR_026171 p.Cys420Arg US rs121913272 Colorectal cancer (CRC) [MIM:114500] PIK3CA P42336 VAR_026171 p.Cys420Arg US rs121913272 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918] PIK3CA P42336 VAR_026172 p.Glu453Gln LP/P rs1057519925 Colorectal cancer (CRC) [MIM:114500] PIK3CA P42336 VAR_026173 p.Glu542Lys LP/P rs121913273 Breast cancer (BC) [MIM:114480] PIK3CA P42336 VAR_026173 p.Glu542Lys LP/P rs121913273 Cerebral cavernous malformations 4 (CCM4) [MIM:619538] PIK3CA P42336 VAR_026173 p.Glu542Lys LP/P rs121913273 CLAPO syndrome (CLAPO) [MIM:613089] PIK3CA P42336 VAR_026173 p.Glu542Lys LP/P rs121913273 Colorectal cancer (CRC) [MIM:114500] PIK3CA P42336 VAR_026173 p.Glu542Lys LP/P rs121913273 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918] PIK3CA P42336 VAR_026173 p.Glu542Lys LP/P rs121913273 Keratosis, seborrheic (KERSEB) [MIM:182000] PIK3CA P42336 VAR_026173 p.Glu542Lys LP/P rs121913273 Macrodactyly (MADAC) [MIM:155500] PIK3CA P42336 VAR_026174 p.Glu542Gln US rs121913273 - PIK3CA P42336 VAR_026175 p.Glu542Val US rs1057519927 Breast cancer (BC) [MIM:114480] PIK3CA P42336 VAR_026176 p.Glu545Ala LP/P rs121913274 Cowden syndrome 5 (CWS5) [MIM:615108] PIK3CA P42336 VAR_026176 p.Glu545Ala LP/P rs121913274 Hepatocellular carcinoma (HCC) [MIM:114550] PIK3CA P42336 VAR_026177 p.Glu545Gly LP/P rs121913274 Keratosis, seborrheic (KERSEB) [MIM:182000] PIK3CA P42336 VAR_026178 p.Glu545Lys LP/P rs104886003 Breast cancer (BC) [MIM:114480] PIK3CA P42336 VAR_026178 p.Glu545Lys LP/P rs104886003 Colorectal cancer (CRC) [MIM:114500] PIK3CA P42336 VAR_026178 p.Glu545Lys LP/P rs104886003 Keratosis, seborrheic (KERSEB) [MIM:182000] PIK3CA P42336 VAR_026178 p.Glu545Lys LP/P rs104886003 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] PIK3CA P42336 VAR_026179 p.Gln546Glu US rs121913286 Breast cancer (BC) [MIM:114480] PIK3CA P42336 VAR_026180 p.Gln546Lys US rs121913286 Ovarian cancer (OC) [MIM:167000] PIK3CA P42336 VAR_026181 p.Gln546Pro US rs397517201 - PIK3CA P42336 VAR_026182 p.Gln546Arg US rs397517201 Breast cancer (BC) [MIM:114480] PIK3CA P42336 VAR_026183 p.Gly1007Arg US - - PIK3CA P42336 VAR_026184 p.Tyr1021Cys LP/P rs121913288 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] PIK3CA P42336 VAR_026185 p.Tyr1021His US - - PIK3CA P42336 VAR_026186 p.Tyr1021Asn US - - PIK3CA P42336 VAR_026187 p.Arg1023Gln US - Colorectal cancer (CRC) [MIM:114500] PIK3CA P42336 VAR_026188 p.Thr1025Asn US - - PIK3CA P42336 VAR_026189 p.Ala1035Val LP/P rs1242945375 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] PIK3CA P42336 VAR_026190 p.Met1043Ile LP/P rs121913283 Colorectal cancer (CRC) [MIM:114500] PIK3CA P42336 VAR_026190 p.Met1043Ile LP/P rs121913283 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] PIK3CA P42336 VAR_026191 p.His1047Leu LP/P rs121913279 Breast cancer (BC) [MIM:114480] PIK3CA P42336 VAR_026191 p.His1047Leu LP/P rs121913279 Cerebral cavernous malformations 4 (CCM4) [MIM:619538] PIK3CA P42336 VAR_026191 p.His1047Leu LP/P rs121913279 CLAPO syndrome (CLAPO) [MIM:613089] PIK3CA P42336 VAR_026191 p.His1047Leu LP/P rs121913279 Macrodactyly (MADAC) [MIM:155500] PIK3CA P42336 VAR_026192 p.His1047Arg LP/P rs121913279 Breast cancer (BC) [MIM:114480] PIK3CA P42336 VAR_026192 p.His1047Arg LP/P rs121913279 Cerebral cavernous malformations 4 (CCM4) [MIM:619538] PIK3CA P42336 VAR_026192 p.His1047Arg LP/P rs121913279 Colorectal cancer (CRC) [MIM:114500] PIK3CA P42336 VAR_026192 p.His1047Arg LP/P rs121913279 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918] PIK3CA P42336 VAR_026192 p.His1047Arg LP/P rs121913279 Keratosis, seborrheic (KERSEB) [MIM:182000] PIK3CA P42336 VAR_026192 p.His1047Arg LP/P rs121913279 Macrodactyly (MADAC) [MIM:155500] PIK3CA P42336 VAR_026192 p.His1047Arg LP/P rs121913279 Ovarian cancer (OC) [MIM:167000] PIK3CA P42336 VAR_026193 p.His1047Tyr LP/P rs121913281 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] PIK3CA P42336 VAR_026194 p.Gly1050Asp US - - PIK3CA P42336 VAR_026195 p.Thr1052Lys US - - PIK3CA P42336 VAR_026196 p.His1065Leu US rs1560150596 - PIK3CA P42336 VAR_026197 p.His1065Tyr US - - PIK3CA P42336 VAR_042942 p.Ile43Val LB/B rs1051399 - PIK3CA P42336 VAR_042943 p.Ser332Arg LB/B rs1051407 - PIK3CA P42336 VAR_069251 p.Glu81Lys LP/P rs1057519929 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] PIK3CA P42336 VAR_069252 p.Gly364Arg LP/P rs1576935161 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] PIK3CA P42336 VAR_069253 p.Glu365Lys LP/P rs1064793732 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] PIK3CA P42336 VAR_069254 p.Cys378Tyr LP/P rs397514565 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] PIK3CA P42336 VAR_069256 p.Glu726Lys LP/P rs867262025 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] PIK3CA P42336 VAR_069257 p.Gly914Arg LP/P rs587776932 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] PIK3CA P42336 VAR_069258 p.Thr1025Ala LP/P rs397517202 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] PIK3CA P42336 VAR_069259 p.Gly1049Ser LP/P rs121913277 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] PIK3CA P42336 VAR_069786 p.Gly118Asp LP/P rs587777790 Cowden syndrome 5 (CWS5) [MIM:615108] PIK3CA P42336 VAR_069787 p.Glu135Lys LP/P rs587777791 Cowden syndrome 5 (CWS5) [MIM:615108] PIK3CA P42336 VAR_069788 p.Glu218Lys LP/P rs587777792 Cowden syndrome 5 (CWS5) [MIM:615108] PIK3CA P42336 VAR_069789 p.Val356Ile LP/P rs587777793 Cowden syndrome 5 (CWS5) [MIM:615108] PIK3CA P42336 VAR_069790 p.Arg382Lys LP/P rs587777794 Cowden syndrome 5 (CWS5) [MIM:615108] PIK3CA P42336 VAR_075634 p.Ile112Asn LP/P rs863225460 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] PIK3CA P42336 VAR_081475 p.Phe83Ser US rs1560137208 CLAPO syndrome (CLAPO) [MIM:613089] PIK3CA P42336 VAR_081476 p.Arg115Pro US - CLAPO syndrome (CLAPO) [MIM:613089] PIK3CA P42336 VAR_081476 p.Arg115Pro US - Macrodactyly (MADAC) [MIM:155500] PIK3CB P42338 VAR_050530 p.Gln672His LB/B rs2230462 - PIK3CD O00329 VAR_070918 p.Glu1021Lys LP/P rs397518423 Immunodeficiency 14A with lymphoproliferation, autosomal dominant (IMD14A) [MIM:615513] PIK3CG P48736 VAR_087092 p.Arg49Ser LP/P - Immunodeficiency 97 with autoinflammation (IMD97) [MIM:619802] PIK3CG P48736 VAR_087093 p.Arg1021Pro LP/P - Immunodeficiency 97 with autoinflammation (IMD97) [MIM:619802] PIK3CG P48736 VAR_087094 p.Asn1085Ser LP/P - Immunodeficiency 97 with autoinflammation (IMD97) [MIM:619802] PIK3IP1 Q96FE7 VAR_031121 p.Thr251Ser LB/B rs2040533 - PIK3R1 P27986 VAR_010023 p.Met326Ile LB/B rs3730089 - PIK3R1 P27986 VAR_010024 p.Arg409Gln LB/B rs748784250 - PIK3R1 P27986 VAR_029562 p.Glu451Lys LB/B rs17852841 - PIK3R1 P27986 VAR_070221 p.Glu489Lys LP/P rs397514047 SHORT syndrome (SHORTS) [MIM:269880] PIK3R1 P27986 VAR_070223 p.Arg649Trp LP/P rs397515453 SHORT syndrome (SHORTS) [MIM:269880] PIK3R2 O00459 VAR_030679 p.Ser234Arg LB/B rs2241088 - PIK3R2 O00459 VAR_030680 p.Ser313Pro LB/B rs1011320 - PIK3R2 O00459 VAR_069262 p.Gly373Arg LP/P rs587776934 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387] PIK3R2 O00459 VAR_075556 p.Lys376Glu US rs886041591 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387] PIK3R2 O00459 VAR_075683 p.Leu401Pro LP/P rs587777624 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387] PIK3R2 O00459 VAR_075684 p.Asp557His LP/P rs372272045 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387] PIK3R3 Q92569 VAR_047153 p.Asn283Lys LB/B rs785467 - PIK3R4 Q99570 VAR_035632 p.Arg936Gln US rs181132426 A breast cancer sample PIK3R4 Q99570 VAR_040997 p.Phe273Leu LB/B rs55951445 - PIK3R4 Q99570 VAR_040998 p.Arg342His LB/B rs56295394 - PIK3R4 Q99570 VAR_040999 p.Arg347Trp LB/B rs34797184 - PIK3R4 Q99570 VAR_041000 p.Thr388Ile LB/B rs34663155 - PIK3R4 Q99570 VAR_041001 p.Asp393Asn LB/B rs34633532 - PIK3R4 Q99570 VAR_041002 p.Leu699Val LB/B rs56369596 - PIK3R4 Q99570 VAR_041003 p.Gly1043Val LB/B rs56160735 - PIK3R5 Q8WYR1 VAR_036227 p.Arg28Cys US rs371789171 A colorectal cancer sample PIK3R5 Q8WYR1 VAR_067052 p.Pro629Ser LP/P rs61761068 Ataxia-oculomotor apraxia 3 (AOA3) [MIM:615217] PIKFYVE Q9Y2I7 VAR_025309 p.Lys1103Arg LP/P rs121918336 Corneal dystrophy, fleck (CFD) [MIM:121850] PIKFYVE Q9Y2I7 VAR_057097 p.Met617Val LB/B rs16840913 - PIKFYVE Q9Y2I7 VAR_057098 p.Ser1033Ala LB/B rs999890 - PIKFYVE Q9Y2I7 VAR_057099 p.Arg1858Gln LB/B rs2289170 - PIKFYVE Q9Y2I7 VAR_063406 p.Ser696Asn LB/B rs10932258 - PIKFYVE Q9Y2I7 VAR_063407 p.Leu932Ser LB/B rs2363468 - PIKFYVE Q9Y2I7 VAR_063408 p.Gln995Leu LB/B rs893254 - PIKFYVE Q9Y2I7 VAR_063409 p.Thr998Ser LB/B rs893253 - PIKFYVE Q9Y2I7 VAR_063410 p.Gln1183Lys LB/B rs1529979 - PILRA Q9UKJ1 VAR_056062 p.Ser279Leu LB/B rs34266222 - PILRA Q9UKJ1 VAR_060361 p.Arg78Gly LB/B rs1859788 - PILRB Q9UKJ0 VAR_059406 p.Ile63Thr LB/B rs11771799 - PILRB Q9UKJ0 VAR_059407 p.Asn66Asp LB/B rs11761306 - PIM1 P11309 VAR_041004 p.Tyr53His US - A colorectal adenocarcinoma sample PIM1 P11309 VAR_041005 p.Glu124Gln LB/B rs35760989 - PIM1 P11309 VAR_041006 p.Glu135Lys LB/B rs200523275 - PIM1 P11309 VAR_041007 p.Glu142Asp LB/B rs33989191 - PIM2 Q9P1W9 VAR_041008 p.Gly138Asp LB/B rs35044770 - PIM2 Q9P1W9 VAR_041009 p.Ile280Val LB/B rs35208542 - PIMREG Q9BSJ6 VAR_056873 p.Ser199Cys LB/B rs16955870 - PINK1 Q9BXM7 VAR_018993 p.Pro305Leu LB/B rs7349186 - PINK1 Q9BXM7 VAR_018994 p.Gly309Asp LP/P rs74315355 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_018995 p.Ala340Thr LB/B rs3738136 - PINK1 Q9BXM7 VAR_018996 p.Asn521Thr LB/B rs1043424 - PINK1 Q9BXM7 VAR_041010 p.Leu148Trp LB/B rs56297806 - PINK1 Q9BXM7 VAR_041011 p.Pro196Ser LB/B rs35802484 - PINK1 Q9BXM7 VAR_041012 p.Pro209Leu LB/B rs34677717 - PINK1 Q9BXM7 VAR_041013 p.Pro215Leu US rs371854396 A glioblastoma multiforme sample PINK1 Q9BXM7 VAR_041014 p.Ala339Thr LB/B rs55831733 - PINK1 Q9BXM7 VAR_041015 p.Met341Ile LB/B rs35813094 - PINK1 Q9BXM7 VAR_041016 p.Cys377Phe LB/B rs34203620 - PINK1 Q9BXM7 VAR_041017 p.Ser477Thr LB/B rs34416410 - PINK1 Q9BXM7 VAR_046566 p.Leu67Phe LB/B rs763142730 - PINK1 Q9BXM7 VAR_046567 p.Arg68Pro LB/B rs1385309950 - PINK1 Q9BXM7 VAR_046568 p.Cys92Phe LP/P rs1553145550 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046569 p.Arg98Trp LB/B rs575668171 - PINK1 Q9BXM7 VAR_046570 p.Ile111Ser LB/B rs1553145560 - PINK1 Q9BXM7 VAR_046571 p.Gln115Leu LB/B rs148871409 - PINK1 Q9BXM7 VAR_046572 p.Ala124Val LB/B rs1274588239 - PINK1 Q9BXM7 VAR_046573 p.Thr145Met LB/B rs45604240 - PINK1 Q9BXM7 VAR_046574 p.Arg147His US rs138050841 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046575 p.Ala168Pro LP/P rs768091663 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046576 p.Lys186Asn LB/B rs143204084 - PINK1 Q9BXM7 VAR_046577 p.Pro196Leu LP/P rs138302371 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046578 p.Ala217Asp LP/P rs74315360 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046579 p.Glu231Gly LB/B rs1303935100 - PINK1 Q9BXM7 VAR_046580 p.Asn235Ile LB/B rs1557562082 - PINK1 Q9BXM7 VAR_046581 p.Glu240Lys LP/P rs573931674 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046582 p.Thr257Ile LB/B rs370906995 - PINK1 Q9BXM7 VAR_046583 p.Arg263Gly LB/B rs1553146419 - PINK1 Q9BXM7 VAR_046584 p.Leu268Val LP/P rs372280083 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046585 p.His271Gln LP/P rs28940284 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046586 p.Arg276Gln LB/B rs548506734 - PINK1 Q9BXM7 VAR_046587 p.Arg279His LP/P rs74315358 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046588 p.Pro296Leu LB/B rs779060308 - PINK1 Q9BXM7 VAR_046589 p.Thr313Met LP/P rs74315359 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046590 p.Val317Ile LB/B rs200949139 - PINK1 Q9BXM7 VAR_046591 p.Met318Leu LB/B rs139226733 - PINK1 Q9BXM7 VAR_046592 p.Pro322Leu LB/B rs768019187 - PINK1 Q9BXM7 VAR_046593 p.Leu347Pro LP/P rs28940285 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046594 p.Asp362His LB/B - - PINK1 Q9BXM7 VAR_046595 p.Ala383Thr LB/B rs45515602 - PINK1 Q9BXM7 VAR_046596 p.Cys388Arg LP/P rs1553146806 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046597 p.Gly395Val LB/B rs1035071310 - PINK1 Q9BXM7 VAR_046598 p.Gly411Ser LB/B rs45478900 - PINK1 Q9BXM7 VAR_046599 p.Glu417Gly LP/P rs1553146822 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046600 p.Pro425Ser LB/B rs554114655 - PINK1 Q9BXM7 VAR_046601 p.Tyr431His LB/B rs74315361 - PINK1 Q9BXM7 VAR_046602 p.Ile442Thr LB/B rs1553146877 - PINK1 Q9BXM7 VAR_046603 p.Asn451Ser LB/B rs747400197 - PINK1 Q9BXM7 VAR_046604 p.Leu461Ser LB/B - - PINK1 Q9BXM7 VAR_046605 p.Arg464His LP/P rs764328076 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046606 p.Glu476Lys LB/B rs115477764 - PINK1 Q9BXM7 VAR_046607 p.Leu489Pro LP/P rs1553146903 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046608 p.Arg501Pro LB/B rs61744200 - PINK1 Q9BXM7 VAR_046609 p.Asp525Asn LB/B rs531477772 - PINK1 Q9BXM7 VAR_046611 p.Ala537Thr LB/B rs771032673 - PINK1 Q9BXM7 VAR_046612 p.Cys575Arg LB/B rs1553147052 - PINK1 Q9BXM7 VAR_062773 p.Cys125Gly LP/P - Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_062774 p.Ala280Thr LP/P rs772510148 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_062775 p.Leu369Pro LP/P rs1195888869 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_062776 p.Gly386Ala LP/P - Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_062777 p.Pro399Leu LB/B rs119451946 - PINK1 Q9BXM7 VAR_062778 p.Arg407Gln LP/P rs556540177 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_062779 p.Gly409Val LP/P rs1553146818 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_064344 p.Gln126Pro LP/P rs775809722 Parkinson disease 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_078934 p.Val170Gly LP/P rs1553145929 Parkinson disease 6 (PARK6) [MIM:605909] PINX1 Q96BK5 VAR_054024 p.Gln206His LB/B rs35530857 - PINX1 Q96BK5 VAR_054025 p.Arg215Ile LB/B rs17855458 - PINX1 Q96BK5 VAR_054026 p.Thr220Ala LB/B rs17711777 - PINX1 Q96BK5 VAR_054027 p.Ser254Cys LB/B rs1078543 - PINX1 Q96BK5 VAR_054028 p.Glu315Ala LB/B rs34656824 - PIP4K2A P48426 VAR_024565 p.Asn251Ser LB/B rs2230469 - PIP4K2A P48426 VAR_059764 p.Leu7Ile LB/B rs11813789 - PIP4K2C Q8TBX8 VAR_032049 p.Val84Ala LB/B rs17550713 - PIP4K2C Q8TBX8 VAR_032050 p.Lys241Arg LB/B rs17852569 - PIP4K2C Q8TBX8 VAR_032051 p.Ala300Gly LB/B rs2277319 - PIP5K1B O14986 VAR_023712 p.Ala415Thr LB/B rs55897616 - PIP5K1C O60331 VAR_036996 p.Asp253Asn LP/P rs121908315 Lethal congenital contracture syndrome 3 (LCCS3) [MIM:611369] PIR O00625 VAR_050543 p.Val228Ala LB/B rs34104000 - PISD Q9UG56 VAR_084458 p.Arg277Gln LP/P rs147371584 Liberfarb syndrome (LIBF) [MIM:618889] PISD Q9UG56 VAR_084459 p.Cys300Tyr LP/P rs2072505076 Liberfarb syndrome (LIBF) [MIM:618889] PITPNM2 Q9BZ72 VAR_053584 p.Pro9Leu LB/B rs17884869 - PITPNM2 Q9BZ72 VAR_062131 p.Leu661Met LB/B rs55813219 - PITPNM3 Q9BZ71 VAR_026014 p.Ala80Thr LB/B rs3809835 - PITPNM3 Q9BZ71 VAR_046787 p.Gln626His LP/P rs76024428 Cone-rod dystrophy 5 (CORD5) [MIM:600977] PITPNM3 Q9BZ71 VAR_062132 p.Pro17Ser LB/B rs28493751 - PITRM1 Q5JRX3 VAR_027517 p.Gln8Arg LB/B rs11818724 - PITRM1 Q5JRX3 VAR_027518 p.Leu145Val LB/B rs9423502 - PITRM1 Q5JRX3 VAR_027519 p.Phe169Ser LB/B rs3814596 - PITRM1 Q5JRX3 VAR_027520 p.Ile328Val LB/B rs4242746 - PITRM1 Q5JRX3 VAR_027521 p.Ala397Val LB/B rs3182535 - PITRM1 Q5JRX3 VAR_027522 p.Gln516His LB/B rs3765101 - PITRM1 Q5JRX3 VAR_027523 p.Val621Ile LB/B rs2388556 - PITRM1 Q5JRX3 VAR_027524 p.Ile952Met LB/B rs2279219 - PITRM1 Q5JRX3 VAR_027525 p.Val963Ile LB/B rs17849904 - PITRM1 Q5JRX3 VAR_027526 p.Pro969Leu LB/B rs2279218 - PITRM1 Q5JRX3 VAR_027527 p.Gln1037Arg LB/B rs6901 - PITRM1 Q5JRX3 VAR_057059 p.Ala554Asp LB/B rs12248937 - PITRM1 Q5JRX3 VAR_057060 p.Arg805Gln LB/B rs34837384 - PITRM1 Q5JRX3 VAR_085987 p.Arg183Gln LP/P rs1249144069 Spinocerebellar ataxia, autosomal recessive, 30 (SCAR30) [MIM:619405] PITRM1 Q5JRX3 VAR_085988 p.Thr931Met LP/P rs187308159 Spinocerebellar ataxia, autosomal recessive, 30 (SCAR30) [MIM:619405] PITX1 P78337 VAR_049586 p.Gly299Ala LB/B rs479632 - PITX1 P78337 VAR_058113 p.Glu130Lys LP/P rs121909109 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF) [MIM:119800] PITX2 Q99697 VAR_003762 p.Arg130Trp LP/P rs121909248 Anterior segment dysgenesis 4 (ASGD4) [MIM:137600] PITX2 Q99697 VAR_003763 p.Leu100Gln LP/P rs104893857 Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_003764 p.Thr114Pro LP/P rs104893858 Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_003765 p.Arg115His LP/P rs104893861 Anterior segment dysgenesis 4 (ASGD4) [MIM:137600] PITX2 Q99697 VAR_003766 p.Arg137Pro LP/P rs104893859 Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_035027 p.Arg108His LP/P rs104893862 Ring dermoid of cornea (RDC) [MIM:180550] PITX2 Q99697 VAR_035029 p.Val129Leu LP/P rs121909249 Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_058735 p.Pro110Leu LP/P rs1057519484 Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_058736 p.Pro110Arg LP/P - Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_058737 p.Lys134Glu LP/P rs387906810 Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_058738 p.Arg136Cys LP/P - Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_058739 p.Leu151Val LP/P - Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_058740 p.Asn154Thr LP/P - Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] PITX3 O75364 VAR_003767 p.Ser13Asn LP/P rs104894175 Cataract 11, multiple types (CTRCT11) [MIM:610623] PIWIL1 Q96J94 VAR_026288 p.Lys491Asn LB/B rs17856812 - PIWIL1 Q96J94 VAR_026289 p.Arg527Lys LB/B rs1106042 - PIWIL1 Q96J94 VAR_026290 p.Leu575Pro LB/B rs17852568 - PIWIL1 Q96J94 VAR_078965 p.Arg217Ala US - - PIWIL1 Q96J94 VAR_078966 p.Leu220Ala US - - PIWIL1 Q96J94 VAR_078967 p.Leu220Gly US - - PIWIL1 Q96J94 VAR_078968 p.Leu220Arg US - - PIWIL1 Q96J94 VAR_078969 p.Asn224His US - - PIWIL3 Q7Z3Z3 VAR_034383 p.Pro375Ser LB/B rs1475853 - PIWIL3 Q7Z3Z3 VAR_034384 p.Cys412Arg LB/B rs1892722 - PIWIL3 Q7Z3Z3 VAR_034385 p.Val418Met LB/B rs1892723 - PIWIL3 Q7Z3Z3 VAR_054774 p.Val471Ile LB/B rs11703684 - PIWIL3 Q7Z3Z3 VAR_059130 p.Arg589Cys LB/B rs738826 - PIWIL3 Q7Z3Z3 VAR_061024 p.Pro186Leu LB/B rs61083377 - PIWIL4 Q7Z3Z4 VAR_026291 p.Gln327Leu LB/B rs11020845 - PIWIL4 Q7Z3Z4 VAR_028367 p.Gln78Arg LB/B rs12276921 - PIWIL4 Q7Z3Z4 VAR_055533 p.Lys167Arg LB/B rs12272255 - PIWIL4 Q7Z3Z4 VAR_061025 p.Ala370Pro LB/B rs57607909 - PJA1 Q8NG27 VAR_052088 p.Ser432Asn LB/B rs5937160 - PJA1 Q8NG27 VAR_052089 p.Glu606Asp LB/B rs11539157 - PJA2 O43164 VAR_030698 p.Gln297Arg LB/B rs1045706 - PJA2 O43164 VAR_030699 p.Ala705Thr LB/B rs246105 - PJA2 O43164 VAR_057215 p.Glu176Gly LB/B rs35224970 - PJVK Q0ZLH3 VAR_027387 p.Thr54Ile LP/P rs118203988 Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220] PJVK Q0ZLH3 VAR_027388 p.Arg183Trp LP/P rs111706634 Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220] PJVK Q0ZLH3 VAR_053103 p.Arg265Cys LB/B rs17304212 - PJVK Q0ZLH3 VAR_068891 p.Cys343Ser LP/P rs569088856 Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220] PJVK Q0ZLH3 VAR_083913 p.Leu244Arg US - Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220] PJVK Q0ZLH3 VAR_083914 p.Leu299Arg LB/B - - PKD1 P98161 VAR_005533 p.Met2760Thr LP/P rs879809222 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_005535 p.Leu2763Val US - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_005536 p.Met2764Thr LP/P rs1596527405 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_005537 p.Arg2791Gln LP/P rs367746233 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_005538 p.Ile2826Thr US - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_005539 p.Val3008Leu US - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_005541 p.Val3375Met US rs371283948 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_005542 p.Glu3632Asp US rs1416373452 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_005543 p.Met3678Thr LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_005545 p.Gly4032Asp LP/P rs142768096 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_005546 p.Ile4045Val LB/B rs10960 - PKD1 P98161 VAR_005547 p.Val4058Ala LB/B - - PKD1 P98161 VAR_010085 p.Arg324Leu LP/P rs199476099 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_010086 p.Leu845Ser LP/P rs199476100 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_010087 p.Trp1399Arg LB/B rs116092985 - PKD1 P98161 VAR_010088 p.Pro1786Leu LB/B rs151176070 - PKD1 P98161 VAR_010089 p.Leu2993Pro LP/P rs1555450487 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_010090 p.Gln3016Arg LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_010091 p.Thr3510Met LB/B rs45478794 - PKD1 P98161 VAR_010092 p.Leu3511Val US rs141946034 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_010093 p.Ser3562Asn LB/B - - PKD1 P98161 VAR_010095 p.Ala4059Val LB/B rs3209986 - PKD1 P98161 VAR_010096 p.Arg4136Gly LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_010097 p.Arg4154Cys LP/P rs115538130 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_010098 p.Ser4190Phe LB/B rs547854563 - PKD1 P98161 VAR_010099 p.Gln4225Pro LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_010100 p.Arg4276Trp LP/P rs114251396 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011030 p.Leu13Gln LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011031 p.Ser75Phe LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011032 p.Trp139Cys LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011033 p.Gly1166Ser US rs573566419 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011034 p.Val1956Glu LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011036 p.Arg1995His LB/B rs752388015 - PKD1 P98161 VAR_011038 p.Thr2250Met US rs139971481 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011039 p.Arg2329Trp US rs200433577 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011040 p.Tyr2336Asp LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011041 p.Tyr2379Cys LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011042 p.Arg2408Cys US rs538769374 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011044 p.Asp2604Asn LB/B rs778565182 - PKD1 P98161 VAR_011045 p.Pro2674Ser LB/B rs144557371 - PKD1 P98161 VAR_011046 p.Thr2708Met LB/B rs147350387 - PKD1 P98161 VAR_011047 p.Pro2734Thr LB/B rs150568356 - PKD1 P98161 VAR_011048 p.Gln2735Leu LB/B rs141717814 - PKD1 P98161 VAR_011049 p.Ala2752Asp LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011051 p.Arg2765Cys LB/B rs144979397 - PKD1 P98161 VAR_011052 p.Val2768Met LP/P rs1456510041 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011053 p.Glu2771Lys LP/P rs1057518897 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011054 p.Val2782Met LB/B rs151089809 - PKD1 P98161 VAR_011055 p.Gly2814Arg LP/P rs149151043 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011056 p.Leu2816Pro LP/P rs1567177684 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011057 p.Gly2858Ser LP/P rs755522953 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011058 p.Arg2888Gly LB/B - - PKD1 P98161 VAR_011059 p.Val2905Ile LB/B rs147788838 - PKD1 P98161 VAR_011060 p.His2921Pro LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011061 p.Glu2966Asp LB/B rs13337123 - PKD1 P98161 VAR_011063 p.Phe3066Leu LB/B rs9925969 - PKD1 P98161 VAR_011064 p.Gly3139Val LB/B - - PKD1 P98161 VAR_011065 p.Pro3193Leu LB/B - - PKD1 P98161 VAR_011066 p.Ala3512Val LB/B rs34197769 - PKD1 P98161 VAR_011067 p.Arg3719Gln LP/P rs1555446576 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011068 p.Arg3753Trp LP/P rs1167476946 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011069 p.Asp3815Asn LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_011070 p.Leu3852Pro LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_012452 p.Ala88Val LB/B rs958271752 - PKD1 P98161 VAR_012453 p.Trp967Arg LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_012454 p.Arg2392Pro LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_012455 p.Ser2423Phe LP/P rs1555453207 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_012456 p.Pro2471Leu LP/P rs1161298621 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_012457 p.Gln2519Leu US - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_012458 p.Glu2548Gln LB/B rs28369051 - PKD1 P98161 VAR_012460 p.Thr2582Met LB/B rs2432405 - PKD1 P98161 VAR_012462 p.His2638Arg LP/P rs9936785 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_012463 p.Thr2649Ile US rs1490043027 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_012464 p.Leu2696Arg LP/P rs201238819 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_012465 p.Asp2972Asn LB/B rs150189496 - PKD1 P98161 VAR_012467 p.Arg2985Gly LP/P rs373952574 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_012468 p.Arg3039Cys LP/P rs200522524 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_012469 p.Val3285Ile US rs201780393 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_012470 p.His3311Arg LB/B rs1242837732 - PKD1 P98161 VAR_012471 p.Gly3560Arg LP/P rs79000340 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_013838 p.Arg3247His US rs140791671 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_013839 p.Thr3382Met US rs776463508 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_014918 p.Arg2746Pro LB/B rs1800569 - PKD1 P98161 VAR_056696 p.Leu950Pro LB/B rs2369063 - PKD1 P98161 VAR_056697 p.Met1092Thr LB/B rs2549677 - PKD1 P98161 VAR_056698 p.Leu1114Arg LB/B rs241573 - PKD1 P98161 VAR_056699 p.Arg1557Pro LB/B rs241572 - PKD1 P98161 VAR_056700 p.Thr1734Lys LB/B rs241571 - PKD1 P98161 VAR_056701 p.Arg2515Gln LB/B rs2432404 - PKD1 P98161 VAR_056702 p.Ser2534Gly LB/B rs3874655 - PKD1 P98161 VAR_056703 p.Gln3005Glu LB/B rs1063401 - PKD1 P98161 VAR_056704 p.Met3023Val LB/B rs17135779 - PKD1 P98161 VAR_058759 p.Pro36His LB/B rs560049593 - PKD1 P98161 VAR_058760 p.Pro61Leu US rs886038369 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058761 p.Leu87Met LB/B - - PKD1 P98161 VAR_058762 p.Ser99Ile US rs1567219544 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058763 p.Gln164Arg LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058764 p.Cys210Gly LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058765 p.Gly381Cys LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058766 p.Cys508Arg LP/P rs58598099 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058767 p.Pro572Ser LB/B rs149022148 - PKD1 P98161 VAR_058768 p.Phe594Tyr LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058769 p.Val690Asp LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058770 p.Pro738Arg LB/B - - PKD1 P98161 VAR_058771 p.Arg739Gln LB/B rs40433 - PKD1 P98161 VAR_058772 p.Gln987His LP/P rs1266492292 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058773 p.Pro1168Ser LB/B rs146887330 - PKD1 P98161 VAR_058775 p.Thr1242Met US rs1033550407 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058776 p.Arg1340Trp LP/P rs143690392 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058777 p.Ala1516Thr LB/B rs148164067 - PKD1 P98161 VAR_058778 p.Thr1649Met LB/B rs761106434 - PKD1 P98161 VAR_058779 p.Thr1667Pro LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058780 p.Ser1684Leu LB/B rs139520275 - PKD1 P98161 VAR_058781 p.Glu1811Lys LP/P rs778028644 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058782 p.Ala1871Thr LB/B rs144137200 - PKD1 P98161 VAR_058783 p.Ala1926Val LB/B rs754890213 - PKD1 P98161 VAR_058784 p.Val1943Ile LB/B rs137978188 - PKD1 P98161 VAR_058785 p.Gly1952Asp LB/B rs2092441433 - PKD1 P98161 VAR_058786 p.Thr2083Ile LP/P rs1383930225 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058787 p.Tyr2092Cys LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058788 p.Tyr2185Asp LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058789 p.Arg2200Cys LP/P rs140869992 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058791 p.Cys2370Arg LP/P rs1567187445 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058792 p.Cys2373Tyr LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058794 p.Thr2422Lys US rs1555453210 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058795 p.Arg2761Pro LP/P rs145629362 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058796 p.Gly2785Asp LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058797 p.Pro2802Leu US rs534112936 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058798 p.Ser2958Leu LB/B rs750780241 - PKD1 P98161 VAR_058799 p.Thr2977Asn LB/B - - PKD1 P98161 VAR_058800 p.Val3008Met LB/B rs117896488 - PKD1 P98161 VAR_058802 p.Val3057Met LB/B rs778055216 - PKD1 P98161 VAR_058803 p.Val3138Met US rs1358566538 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058804 p.Ile3167Phe LP/P rs139945204 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058806 p.Pro3355Leu US rs781263445 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058807 p.Arg3435Gln LB/B rs140189010 - PKD1 P98161 VAR_058808 p.Gly3602Ser US rs781492044 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058809 p.Pro3649Leu LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058810 p.Leu3682Pro LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058811 p.Trp3726Ser US - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058812 p.Gln3751Arg LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058813 p.Ala3954Pro US - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058814 p.Gly4102Glu LB/B rs1306483854 - PKD1 P98161 VAR_058815 p.Leu4106Pro LB/B - - PKD1 P98161 VAR_058816 p.Pro4124Ser LB/B rs1309138642 - PKD1 P98161 VAR_058817 p.Val4146Ile LB/B rs148478410 - PKD1 P98161 VAR_058818 p.Phe4155Val LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_058819 p.Pro4255Ser LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_064380 p.Asp97Gly LP/P rs2092684310 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_064381 p.Cys436Arg US rs1555458892 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_064382 p.Ala442Pro US - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_064383 p.Leu727Pro LP/P rs1616940 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_064384 p.Leu727Arg LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_064385 p.Gly2391Asp LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_064386 p.Arg2434Trp LP/P rs151257298 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_064387 p.His2546Tyr LP/P rs200037070 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_064388 p.Ser2569Cys US rs758896945 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_064389 p.Ile2646Thr US rs374500158 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_064390 p.Ser2889Arg LP/P rs752447240 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_064391 p.Leu3154Pro LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_064392 p.Trp3603Arg LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_064393 p.Arg3750Gln LP/P rs1327414405 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_068024 p.Tyr325Cys LP/P rs1232180956 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_068025 p.Arg611Trp LP/P rs1555458413 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_068026 p.Tyr698Asp LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_068027 p.Val1206Gly LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_068028 p.Arg2767Cys LP/P rs2092203712 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_068029 p.Leu2995Arg LP/P - Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_068030 p.Gly3651Ser LP/P rs2091705970 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1 P98161 VAR_068031 p.Arg4150Cys LP/P rs1282668884 Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900] PKD1L1 Q8TDX9 VAR_021944 p.Glu2410Lys LB/B rs2290386 - PKD1L1 Q8TDX9 VAR_024566 p.Val312Phe LB/B rs2686817 - PKD1L1 Q8TDX9 VAR_024567 p.Arg1053Pro LB/B rs10274334 - PKD1L1 Q8TDX9 VAR_024568 p.Lys1272Glu LB/B rs1470859 - PKD1L1 Q8TDX9 VAR_050552 p.Asp812Asn LB/B rs17131915 - PKD1L1 Q8TDX9 VAR_050553 p.Thr879Ala LB/B rs11972142 - PKD1L1 Q8TDX9 VAR_050554 p.Ala2685Thr LB/B rs13231277 - PKD1L1 Q8TDX9 VAR_061522 p.Val894Ile LB/B rs56100904 - PKD1L1 Q8TDX9 VAR_061523 p.Arg2057His LB/B rs17131834 - PKD1L1 Q8TDX9 VAR_061524 p.Leu2603Phe LB/B rs59848490 - PKD1L1 Q8TDX9 VAR_065825 p.Val906Ile LB/B rs141681038 - PKD1L1 Q8TDX9 VAR_077879 p.Cys1691Ser LP/P rs886037834 Heterotaxy, visceral, 8, autosomal (HTX8) [MIM:617205] PKD1L1-AS1 Q9H7B7 VAR_043942 p.Lys32Glu LB/B rs9719534 - PKD1L2 Q7Z442 VAR_039427 p.Val20Ala LB/B rs9924530 - PKD1L2 Q7Z442 VAR_039428 p.Trp73Arg LB/B rs9924371 - PKD1L2 Q7Z442 VAR_039429 p.Lys77Asn LB/B rs9934272 - PKD1L2 Q7Z442 VAR_039430 p.Gln120Leu LB/B rs7191351 - PKD1L2 Q7Z442 VAR_039431 p.Gly129Asp LB/B rs7185774 - PKD1L2 Q7Z442 VAR_039432 p.Val156Ile LB/B rs35528333 - PKD1L2 Q7Z442 VAR_039433 p.Cys162Ser LB/B rs35970134 - PKD1L2 Q7Z442 VAR_039434 p.Val169Met LB/B rs36099350 - PKD1L2 Q7Z442 VAR_039435 p.Leu173Ser LB/B rs8060294 - PKD1L2 Q7Z442 VAR_039436 p.Val183Ile LB/B rs12933806 - PKD1L2 Q7Z442 VAR_039437 p.Gly205Arg LB/B rs34719852 - PKD1L2 Q7Z442 VAR_039438 p.Glu221Gly LB/B rs6564838 - PKD1L2 Q7Z442 VAR_039439 p.Arg252Trp LB/B rs6420424 - PKD1L2 Q7Z442 VAR_039440 p.Pro301Ala LB/B rs11150370 - PKD1L2 Q7Z442 VAR_039441 p.Asn407Ser LB/B rs9937169 - PKD1L2 Q7Z442 VAR_039442 p.Lys416Gln LB/B rs7194871 - PKD1L2 Q7Z442 VAR_039443 p.Leu462Val LB/B rs9934856 - PKD1L2 Q7Z442 VAR_039444 p.Pro512Leu LB/B rs7205673 - PKD1L2 Q7Z442 VAR_039445 p.Arg636His LB/B rs13339342 - PKD1L2 Q7Z442 VAR_039446 p.Leu711Pro LB/B rs4889261 - PKD1L2 Q7Z442 VAR_039447 p.Gly785Cys LB/B rs9935113 - PKD1L2 Q7Z442 VAR_039448 p.Arg849His LB/B rs1869349 - PKD1L2 Q7Z442 VAR_039449 p.Ala863Val LB/B rs12596941 - PKD1L2 Q7Z442 VAR_039450 p.Leu919Met LB/B rs745211 - PKD1L2 Q7Z442 VAR_039451 p.Leu1036Pro LB/B rs12597040 - PKD1L2 Q7Z442 VAR_039452 p.Met1042Val LB/B rs12931227 - PKD1L2 Q7Z442 VAR_056705 p.Thr1048Ala LB/B rs12931217 - PKD1L2 Q7Z442 VAR_056706 p.Gly1081Val LB/B rs16954794 - PKD1L2 Q7Z442 VAR_056707 p.Gly1251Trp LB/B rs734824 - PKD1L2 Q7Z442 VAR_056708 p.Ser1326Pro LB/B rs1453324 - PKD1L2 Q7Z442 VAR_056709 p.Ala1335Asp LB/B rs1453326 - PKD1L2 Q7Z442 VAR_056710 p.Thr1406Met LB/B rs8050904 - PKD1L2 Q7Z442 VAR_056711 p.Ala1527Val LB/B rs16954775 - PKD1L2 Q7Z442 VAR_056712 p.Gln1616Arg LB/B rs9921827 - PKD1L2 Q7Z442 VAR_056713 p.Met1645Val LB/B rs9921748 - PKD1L2 Q7Z442 VAR_056714 p.Ser1665Tyr LB/B rs7192948 - PKD1L2 Q7Z442 VAR_056715 p.Gln1701His LB/B rs7194136 - PKD1L2 Q7Z442 VAR_056716 p.Gly1848Arg LB/B rs4889244 - PKD1L2 Q7Z442 VAR_056717 p.Met1867Val LB/B rs12918619 - PKD1L2 Q7Z442 VAR_056718 p.Gln2036Arg LB/B rs16954722 - PKD1L2 Q7Z442 VAR_056719 p.Pro2046Leu LB/B rs7206183 - PKD1L2 Q7Z442 VAR_056720 p.Ala2055Thr LB/B rs16954717 - PKD1L2 Q7Z442 VAR_059551 p.Leu2119Ile LB/B rs8050204 - PKD1L2 Q7Z442 VAR_059552 p.Ser2139Phe LB/B rs4889241 - PKD1L2 Q7Z442 VAR_059553 p.Met2315Ile LB/B rs8054182 - PKD1L2 Q7Z442 VAR_061525 p.Arg998Cys LB/B rs34504526 - PKD1L2 Q7Z442 VAR_061526 p.Gln999His LB/B rs35292101 - PKD1L2 Q7Z442 VAR_061527 p.Asn1330Asp LB/B rs1453325 - PKD1L2 Q7Z442 VAR_061528 p.Ile1331Val LB/B rs9938333 - PKD1L2 Q7Z442 VAR_061529 p.Ala1739Val LB/B rs35941327 - PKD1L2 Q7Z442 VAR_061530 p.Ser2209Arg LB/B rs4889238 - PKD1L3 Q7Z443 VAR_039453 p.Ile120Phe LB/B rs16973585 - PKD1L3 Q7Z443 VAR_039454 p.Ser211Pro LB/B rs4788591 - PKD1L3 Q7Z443 VAR_039455 p.Lys274Glu LB/B rs12708923 - PKD1L3 Q7Z443 VAR_039456 p.Thr429Ser LB/B rs7185272 - PKD1L3 Q7Z443 VAR_039457 p.Ala471Asp LB/B rs16973537 - PKD1L3 Q7Z443 VAR_039458 p.His571Gln LB/B rs1559401 - PKD1L3 Q7Z443 VAR_039459 p.Val593Met LB/B rs9925415 - PKD1L3 Q7Z443 VAR_039460 p.Val903Ile LB/B rs9921412 - PKD1L3 Q7Z443 VAR_039461 p.Ser1176Arg LB/B rs1035543 - PKD1L3 Q7Z443 VAR_039462 p.Tyr1474Cys LB/B rs13335617 - PKD2 Q13563 VAR_009195 p.Trp414Gly LP/P - Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095] PKD2 Q13563 VAR_011072 p.Arg28Pro LB/B rs1805044 - PKD2 Q13563 VAR_011073 p.Ala356Pro LP/P - Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095] PKD2 Q13563 VAR_014919 p.Ile452Val LB/B rs1801612 - PKD2 Q13563 VAR_058820 p.Pro24Leu LB/B rs1004860210 - PKD2 Q13563 VAR_058821 p.Ala190Thr LB/B rs117078377 - PKD2 Q13563 VAR_058822 p.Arg306Gln LP/P rs990932947 Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095] PKD2 Q13563 VAR_058823 p.Arg322Gln LP/P rs145877597 Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095] PKD2 Q13563 VAR_058824 p.Arg322Trp LP/P rs1553925453 Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095] PKD2 Q13563 VAR_058825 p.Arg420Gly LP/P - Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095] PKD2 Q13563 VAR_058826 p.Phe482Cys LB/B rs75762896 - PKD2 Q13563 VAR_058827 p.Asp511Val LP/P rs121918043 Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095] PKD2 Q13563 VAR_058828 p.Cys632Arg LP/P - Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095] PKD2 Q13563 VAR_058829 p.Met800Leu LB/B rs2234917 - PKD2 Q13563 VAR_058830 p.Arg807Gln LP/P rs147654263 Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095] PKD2 Q13563 VAR_064394 p.Ala384Pro LP/P - Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095] PKD2L1 Q9P0L9 VAR_024569 p.Val393Ile LB/B rs2278842 - PKD2L1 Q9P0L9 VAR_024570 p.Arg681Leu LB/B rs6584356 - PKD2L1 Q9P0L9 VAR_050555 p.Arg278Gln LB/B rs17112895 - PKD2L1 Q9P0L9 VAR_050556 p.Arg378Trp LB/B rs7909153 - PKD2L1 Q9P0L9 VAR_050557 p.Ala788Asp LB/B rs12782963 - PKD2L2 Q9NZM6 VAR_047542 p.Val404Ile LB/B rs1880458 - PKD2L2 Q9NZM6 VAR_047543 p.Leu507Pro LB/B rs12187140 - PKDREJ Q9NTG1 VAR_034386 p.Ile1147Met LB/B rs36125344 - PKDREJ Q9NTG1 VAR_036573 p.Ala669Gly US - A breast cancer sample PKDREJ Q9NTG1 VAR_036574 p.Thr1875Ile US rs1203491707 A breast cancer sample PKDREJ Q9NTG1 VAR_050544 p.Arg528Gln LB/B rs6008394 - PKDREJ Q9NTG1 VAR_050545 p.Leu914Pro LB/B rs6519993 - PKDREJ Q9NTG1 VAR_050546 p.Thr992Pro LB/B rs7291444 - PKDREJ Q9NTG1 VAR_050547 p.Val993Ala LB/B rs34798212 - PKDREJ Q9NTG1 VAR_050548 p.Asn1091Ser LB/B rs6008384 - PKDREJ Q9NTG1 VAR_050549 p.Asn1411Asp LB/B rs35276226 - PKDREJ Q9NTG1 VAR_050550 p.Ile1528Met LB/B rs4823496 - PKDREJ Q9NTG1 VAR_050551 p.Val1729Ile LB/B rs9626829 - PKDREJ Q9NTG1 VAR_059550 p.Val26Ala LB/B rs7293071 - PKHD1 P08F94 VAR_014039 p.Thr36Met LP/P rs137852944 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_014040 p.Ile222Val LP/P rs369925690 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_014041 p.Phe253Leu LP/P rs775254013 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_014042 p.Thr752Met LB/B rs200654041 - PKHD1 P08F94 VAR_014043 p.Arg760Cys LB/B rs9370096 - PKHD1 P08F94 VAR_014044 p.Arg760His LP/P rs745770404 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_014045 p.Trp852Arg LB/B - - PKHD1 P08F94 VAR_014046 p.Gly1122Ser LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_014047 p.Cys1204Tyr LB/B - - PKHD1 P08F94 VAR_014048 p.Cys1249Trp LP/P rs748540413 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_014049 p.Ala1262Val LB/B rs9296669 - PKHD1 P08F94 VAR_014050 p.Leu1407Arg LP/P rs1464962854 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_014051 p.Arg1624Trp LP/P rs200391019 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_014052 p.Ser1664Phe LP/P rs28937907 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_014053 p.Val1741Met LP/P rs137852946 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_014054 p.Gln1917Arg LP/P rs1412045164 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_014055 p.Glu1995Gly LP/P rs1554144359 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_014056 p.Ile2331Lys LP/P rs200179145 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_014057 p.Thr2938Met LB/B rs776068047 - PKHD1 P08F94 VAR_014058 p.Ile2957Thr LP/P rs760222236 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_014059 p.Ser3018Phe LP/P rs137852945 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_014060 p.Asp3139Tyr LB/B rs45503297 - PKHD1 P08F94 VAR_014061 p.Ile3553Thr LP/P rs137852948 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_014062 p.Val3960Ile LB/B rs34548196 - PKHD1 P08F94 VAR_014063 p.Gln4048Arg LB/B rs9381994 - PKHD1 P08F94 VAR_018520 p.Ala17Val LP/P rs755654557 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018521 p.Ile25Val LB/B - - PKHD1 P08F94 VAR_018522 p.Gly223Ser LP/P rs749454235 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018523 p.Ile307Thr LP/P rs1288017883 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018524 p.Gly326Val LP/P rs778329699 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018526 p.Glu457Asp LB/B - - PKHD1 P08F94 VAR_018527 p.Ile473Ser LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018528 p.Tyr486His LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018529 p.Arg488Pro LB/B rs186202437 - PKHD1 P08F94 VAR_018530 p.Arg496Pro LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018531 p.Thr579Met LB/B rs45500692 - PKHD1 P08F94 VAR_018532 p.Trp656Cys LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018533 p.Asp703Asn LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018534 p.Val732Phe LB/B rs201432731 - PKHD1 P08F94 VAR_018535 p.Pro739Leu LP/P rs758352210 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018536 p.Ile757Leu US rs777183511 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018537 p.Pro805Leu LP/P rs199531851 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018538 p.Asn830Ser LB/B rs62406032 - PKHD1 P08F94 VAR_018539 p.Thr899Pro LP/P rs922828020 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018540 p.Met997Lys LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018541 p.Ala1030Glu LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018542 p.Gly1123Ser LP/P rs142107837 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018543 p.Tyr1136Cys LB/B rs41273726 - PKHD1 P08F94 VAR_018544 p.Ala1150Pro LB/B - - PKHD1 P08F94 VAR_018545 p.Ser1283Leu LB/B - - PKHD1 P08F94 VAR_018546 p.Pro1389Thr LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018547 p.Cys1472Tyr LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018548 p.Pro1486Leu LP/P rs1421520936 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018549 p.Ser1584Ile LP/P rs1197981811 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018550 p.Leu1709Phe LB/B rs45517932 - PKHD1 P08F94 VAR_018551 p.Thr1781Ile LP/P rs1554197025 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018552 p.Val1789Leu LP/P rs1288521396 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018553 p.Ser1833Leu LP/P rs201105958 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018554 p.Tyr1838Cys LP/P rs777999875 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018555 p.Ser1867Asn LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018556 p.Leu1870Val LB/B rs2435322 - PKHD1 P08F94 VAR_018557 p.Asp1942Gly LP/P rs1210846081 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018558 p.Gly1971Asp LP/P rs180675584 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018559 p.Ile1998Thr LP/P rs1210348558 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018560 p.Val2032Leu LP/P rs1187112770 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018561 p.Leu2134Pro LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018562 p.Ile2303Phe LP/P rs751084512 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018563 p.Cys2422Gly LP/P rs201881567 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018564 p.Ala2615Gly LB/B - - PKHD1 P08F94 VAR_018565 p.Thr2641Ala LB/B rs7766366 - PKHD1 P08F94 VAR_018566 p.Cys2688Phe LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018567 p.Asp2761Tyr LP/P rs1554263080 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018568 p.Leu2772Pro LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018569 p.Ser2861Gly LB/B rs150925674 - PKHD1 P08F94 VAR_018570 p.Tyr2863Cys LP/P rs1342555536 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018571 p.Thr2869Lys LB/B rs142522748 - PKHD1 P08F94 VAR_018572 p.Asp2962Gly LP/P rs1554220680 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018573 p.Ser2983Leu LP/P rs141169758 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018574 p.Val3036Gly LP/P rs893497345 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018575 p.Ala3072Val LB/B rs139306706 - PKHD1 P08F94 VAR_018576 p.Ile3081Val LP/P rs142146981 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018577 p.Asp3088Asn LB/B rs201066635 - PKHD1 P08F94 VAR_018578 p.Arg3107Pro LB/B - - PKHD1 P08F94 VAR_018579 p.His3124Tyr LP/P rs1554218666 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018580 p.Arg3143Ile LB/B - - PKHD1 P08F94 VAR_018581 p.Ile3167Leu LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018582 p.Asn3175Asp LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018583 p.Asn3175Ser LP/P rs1343246818 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018584 p.Ile3177Thr LP/P rs200511261 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018585 p.Ser3289Ile US rs148932323 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018586 p.Asp3293Val LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018587 p.Cys3346Arg US rs149798764 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018588 p.Val3440Asp LB/B rs756792624 - PKHD1 P08F94 VAR_018589 p.Ile3468Val LP/P rs748863662 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018590 p.Val3471Gly LP/P rs137852950 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018591 p.Arg3482Cys LP/P rs148617572 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018592 p.Glu3502Val LP/P rs1554183496 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018593 p.Ser3505Arg LB/B rs139014478 - PKHD1 P08F94 VAR_018594 p.Glu3529Gln LB/B rs145184792 - PKHD1 P08F94 VAR_018595 p.Glu3551Lys LB/B rs751593192 - PKHD1 P08F94 VAR_018596 p.Cys3622Tyr LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018597 p.Pro3783Ser LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_018598 p.Arg3842Leu LB/B rs76572975 - PKHD1 P08F94 VAR_018599 p.Gln3899Arg LB/B rs4715227 - PKHD1 P08F94 VAR_027439 p.Phe372Leu LP/P rs1582038191 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_027440 p.Asp3052Tyr LB/B rs765526 - PKHD1 P08F94 VAR_027441 p.Val3837Ile LB/B rs9474034 - PKHD1 P08F94 VAR_027442 p.Ile3905Asn LB/B rs2661488 - PKHD1 P08F94 VAR_027443 p.Arg3913His LB/B rs2661487 - PKHD1 P08F94 VAR_036228 p.Arg19His US rs1375765328 A colorectal cancer sample PKHD1 P08F94 VAR_036228 p.Arg19His US rs1375765328 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_036229 p.Arg1081Cys US rs200986136 A colorectal cancer sample PKHD1 P08F94 VAR_036230 p.Leu1096Arg US - A colorectal cancer sample PKHD1 P08F94 VAR_036231 p.Glu1806Lys US - A colorectal cancer sample PKHD1 P08F94 VAR_051282 p.Arg760Trp LB/B rs9370096 - PKHD1 P08F94 VAR_066416 p.Arg92Trp LP/P rs370277502 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066417 p.Ile246Thr LP/P rs1037991711 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066418 p.Tyr255Cys LP/P rs886042259 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066419 p.Ile292Val LB/B rs367590965 - PKHD1 P08F94 VAR_066420 p.Ala293Val LP/P rs398124499 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066421 p.Gly466Glu LP/P rs750730042 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066422 p.Gly470Val LP/P rs776845008 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066423 p.Ile539Thr LP/P rs749730748 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066424 p.His686Pro LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066425 p.Arg723Cys LB/B rs794727366 - PKHD1 P08F94 VAR_066426 p.Pro724Arg LP/P rs1229139298 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066427 p.Gly1712Arg LB/B rs141103838 - PKHD1 P08F94 VAR_066428 p.Val1817Gly LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066429 p.Val1875Gly LP/P rs202016058 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066430 p.Trp1928Leu LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066431 p.Ala2009Thr LP/P rs761786260 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066432 p.Leu2106Arg LP/P rs1254909885 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066433 p.Gly2210Glu LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066434 p.Ser2219Leu LP/P - Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066435 p.Gly2224Arg LP/P rs759687904 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066436 p.Cys2422Arg LP/P rs201881567 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066437 p.Glu2431Val LP/P rs1280884139 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066438 p.Arg2573Cys LP/P rs752994816 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066439 p.Tyr2661His US - - PKHD1 P08F94 VAR_066440 p.Val2798Gly LP/P rs1554243589 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066441 p.Cys2803Arg LP/P rs398124495 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066442 p.Met2804Lys LP/P rs794727759 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066443 p.His3049Arg LP/P rs367678592 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066444 p.Ala3207Thr LP/P rs1242089464 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_066445 p.Val3219Ala US - - PKHD1 P08F94 VAR_066446 p.Arg3957Cys LP/P rs146680689 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_075540 p.Glu218Lys US rs149522482 Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200] PKHD1 P08F94 VAR_080924 p.Thr2436Ile US rs147851214 - PKHD1 P08F94 VAR_080925 p.Gly2648Ser US rs139555370 - PKHD1 P08F94 VAR_080926 p.Cys3024Tyr US - - PKHD1 P08F94 VAR_080928 p.Ser3210Cys US rs141081295 - PKHD1 P08F94 VAR_080929 p.Val3263Ala LB/B rs146519878 - PKHD1 P08F94 VAR_080931 p.Pro3780Ser US rs41273722 - PKHD1 P08F94 VAR_080933 p.Leu4037Pro US rs199900211 - PKHD1L1 Q86WI1 VAR_038760 p.Trp373Cys LB/B rs16879428 - PKHD1L1 Q86WI1 VAR_038761 p.Tyr440His LB/B rs964307 - PKHD1L1 Q86WI1 VAR_038762 p.His923Arg LB/B rs4735133 - PKHD1L1 Q86WI1 VAR_038763 p.Tyr943His LB/B rs16879534 - PKHD1L1 Q86WI1 VAR_038764 p.Ala957Glu LB/B rs35375999 - PKHD1L1 Q86WI1 VAR_038765 p.Thr1192Ala LB/B rs10093885 - PKHD1L1 Q86WI1 VAR_038766 p.Arg1514Ser LB/B rs1673408 - PKHD1L1 Q86WI1 VAR_038767 p.Thr1539Arg LB/B rs7820062 - PKHD1L1 Q86WI1 VAR_038768 p.Val1965Leu LB/B rs1673407 - PKHD1L1 Q86WI1 VAR_038769 p.His3050Gln LB/B rs1783147 - PKHD1L1 Q86WI1 VAR_038770 p.Val3080Ile LB/B rs10441509 - PKHD1L1 Q86WI1 VAR_038771 p.Ile3411Val LB/B rs16879659 - PKHD1L1 Q86WI1 VAR_038772 p.Asp3607Glu LB/B rs9774677 - PKHD1L1 Q86WI1 VAR_038773 p.Leu3862Phe LB/B rs16879693 - PKHD1L1 Q86WI1 VAR_038774 p.Val4220Ile LB/B rs1783174 - PKLR P30613 VAR_004028 p.Met107Thr LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004030 p.Val134Asp LP/P rs574051756 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004031 p.Leu155Pro LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004032 p.Glu172Gln LP/P rs757359024 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004033 p.Arg163Cys LP/P rs118204083 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004035 p.Gly275Arg LP/P rs747549978 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004036 p.Asp281Asn LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004037 p.Phe287Val LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004038 p.Ile314Thr LP/P rs981505482 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004039 p.Asp331Glu LP/P rs138476691 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004040 p.Gly332Ser LP/P rs773626254 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004041 p.Ala336Ser LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004042 p.Arg337Pro LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004043 p.Arg337Gln LP/P rs1167329263 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004044 p.Asp339His LP/P rs747097960 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004045 p.Gly341Ala LP/P rs1227427396 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004047 p.Ile357Thr LP/P rs779152555 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004048 p.Arg359Cys LP/P rs138871700 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004049 p.Arg359His LP/P rs1376070580 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004050 p.Asn361Asp LP/P rs765903674 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004051 p.Val368Phe LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004052 p.Thr384Met LP/P rs74315362 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004053 p.Ala392Thr LP/P rs1403323591 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004054 p.Asn393Lys LP/P rs1168490341 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004055 p.Asn393Ser LP/P rs776594413 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004057 p.Thr408Ile LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004058 p.Gln421Lys LP/P rs118204084 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004059 p.Arg426Gln LP/P rs768002493 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004060 p.Arg426Trp LP/P rs1023689443 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004061 p.Ala431Thr LP/P rs762591322 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004062 p.Gly458Asp LP/P rs755522396 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004063 p.Ala459Val LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004064 p.Val460Met LP/P rs752034960 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004065 p.Ala468Val LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004066 p.Arg486Trp LP/P rs116100695 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004067 p.Arg490Trp LP/P rs200133000 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004068 p.Ala495Val LP/P rs141560532 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004069 p.Arg498Cys LP/P rs551883218 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004070 p.Arg498His LP/P rs758327704 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004071 p.Arg510Gln LP/P rs113403872 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004072 p.Arg532Gln LP/P rs758278200 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004073 p.Arg532Trp LP/P rs201255024 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004074 p.Val552Met LP/P rs370316462 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004075 p.Arg559Gly LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004076 p.Asn566Lys LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011435 p.Gly37Glu LP/P rs118204087 Pyruvate kinase hyperactivity (PKHYP) [MIM:102900] PKLR P30613 VAR_011436 p.Ser80Pro LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011437 p.Arg86Pro LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011438 p.Ile90Asn LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011439 p.Gly95Arg LP/P rs750857114 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011440 p.Gly111Arg LP/P rs918627824 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011441 p.Ala115Pro LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011442 p.Ser120Phe LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011443 p.Ser130Tyr LP/P rs118204089 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011444 p.Gly159Val LP/P rs1239029841 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011445 p.Gly222Ala LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011446 p.Asp293Asn LP/P rs1352610988 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011447 p.Gly263Arg LP/P rs1253386414 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011448 p.Gly263Trp LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011449 p.Val288Leu LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011450 p.Ala295Val LP/P rs766353400 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011451 p.Ile310Asn LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011452 p.Glu315Lys LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011453 p.Asp331Asn LP/P rs773893686 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011454 p.Gly341Asp LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011455 p.Ile342Phe LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011456 p.Lys348Asn LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011458 p.Gly364Asp LP/P rs981579065 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011459 p.Ser376Ile LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011460 p.Glu387Gly LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011461 p.Asp390Asn LP/P rs147034239 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011462 p.Ala394Asp LP/P rs1035640530 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011463 p.Ala394Val LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011464 p.Thr408Ala LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011465 p.Glu427Ala LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011466 p.Glu427Asp LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011467 p.Thr477Ala LP/P rs759466273 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011468 p.Ser485Phe LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011469 p.Arg488Gln LP/P rs369183199 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011470 p.Ala495Thr LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011471 p.Arg504Leu LP/P rs185753709 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011472 p.Gly511Arg LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011473 p.Arg531Cys LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011474 p.Ile153Thr LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011475 p.Ile219Thr LP/P rs200572803 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011476 p.Val335Met LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011477 p.Ala352Asp LP/P rs1240481888 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011478 p.Arg385Trp LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011479 p.Ala468Gly LP/P rs750540943 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011480 p.Arg479His LP/P rs118204085 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011481 p.Gly557Ala LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011482 p.Arg569Gln LP/P rs61755431 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_018848 p.Val506Ile LB/B rs8177988 - PKLR P30613 VAR_058467 p.Arg40Trp LP/P rs1484388413 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_058469 p.Leu73Pro LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_058470 p.Ala154Thr LP/P rs780192373 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_058471 p.Arg163Leu LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_058472 p.Gly165Val LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_058473 p.Leu272Val LP/P rs147659527 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_058474 p.Val320Leu LP/P rs549295725 Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_058475 p.Gly358Glu LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_058476 p.Leu374Pro LP/P - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKM P14618 VAR_033067 p.Gly204Val LB/B rs17853396 - PKMYT1 Q99640 VAR_019928 p.Arg140Cys LB/B rs4149796 - PKMYT1 Q99640 VAR_019929 p.Pro417Arg LB/B rs4149800 - PKMYT1 Q99640 VAR_019930 p.Val445Ala LB/B rs10546 - PKMYT1 Q99640 VAR_041034 p.Glu103Gln LB/B rs55834293 - PKMYT1 Q99640 VAR_041035 p.Arg246His LB/B rs35192104 - PKMYT1 Q99640 VAR_041036 p.Glu351Lys LB/B rs56382954 - PKN1 Q16512 VAR_014937 p.Val901Ile LB/B rs10846 - PKN1 Q16512 VAR_042337 p.Arg185Cys US rs267605306 A metastatic melanoma sample PKN1 Q16512 VAR_042338 p.Ala197Glu LB/B rs1287763348 - PKN1 Q16512 VAR_042339 p.Arg436Trp LB/B rs35132656 - PKN1 Q16512 VAR_042340 p.Arg520Gln LB/B rs56273055 - PKN1 Q16512 VAR_042341 p.Leu555Ile LB/B rs34309238 - PKN1 Q16512 VAR_042342 p.Arg635Gln LB/B rs35416389 - PKN1 Q16512 VAR_042343 p.Ile718Val LB/B rs2230539 - PKN1 Q16512 VAR_042344 p.Phe873Leu US - A breast infiltrating ductal carcinoma sample PKN1 Q16512 VAR_042345 p.Ala921Val US - A colorectal adenocarcinoma sample PKN2 Q16513 VAR_050562 p.Glu94Asp LB/B rs12039846 - PKN2 Q16513 VAR_050563 p.Ala197Glu LB/B rs35207128 - PKN2 Q16513 VAR_050564 p.Gln655Arg LB/B rs12085658 - PKN3 Q6P5Z2 VAR_042346 p.Ala180Glu LB/B rs56251280 - PKN3 Q6P5Z2 VAR_050565 p.Val404Leu LB/B rs12932 - PKNOX1 P55347 VAR_036440 p.Val265Ile US rs376883451 A colorectal cancer sample PKNOX1 P55347 VAR_049588 p.Arg126His LB/B rs9976017 - PKNOX1 P55347 VAR_049589 p.Thr216Ala LB/B rs17115709 - PKNOX2 Q96KN3 VAR_049590 p.Glu110Lys LB/B rs34936365 - PKP1 Q13835 VAR_033526 p.Arg116His LB/B rs34626929 - PKP1 Q13835 VAR_033527 p.Cys161Tyr LB/B rs34704938 - PKP1 Q13835 VAR_033528 p.Ile196Val LB/B rs35507614 - PKP1 Q13835 VAR_053811 p.Gly415Asp LB/B rs1626370 - PKP1 Q13835 VAR_062171 p.Ala463Val LB/B rs10920171 - PKP2 Q99959 VAR_021148 p.Ser140Phe LB/B rs150821281 - PKP2 Q99959 VAR_021149 p.Ser615Phe LP/P rs1060501186 Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_021150 p.Lys654Gln LP/P rs1319690519 Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_021151 p.Cys796Arg LP/P rs794729098 Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_063108 p.Leu366Pro LB/B rs1046116 - PKP2 Q99959 VAR_065701 p.Asp26Asn LB/B rs143004808 - PKP2 Q99959 VAR_065702 p.Glu58Asp LB/B rs146708884 - PKP2 Q99959 VAR_065703 p.Gln62Lys US rs199601548 Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_065704 p.Ser70Ile LB/B rs75909145 - PKP2 Q99959 VAR_065705 p.Glu137Lys LP/P rs781739949 Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_065706 p.Ser169Gly LP/P rs139139859 Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_065707 p.Ala195Val LB/B rs1041783952 - PKP2 Q99959 VAR_065708 p.Pro276Ser LB/B rs201944276 - PKP2 Q99959 VAR_065709 p.Thr338Ala LB/B rs139851304 - PKP2 Q99959 VAR_065710 p.Ala372Pro LB/B rs200586695 - PKP2 Q99959 VAR_065711 p.Phe424Ser LP/P rs397516990 Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_065712 p.Gly489Arg US rs111450489 Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_065713 p.Thr526Met LB/B rs146882581 - PKP2 Q99959 VAR_065714 p.Ile531Ser LB/B rs147240502 - PKP2 Q99959 VAR_065715 p.Val587Ile LB/B rs146102241 - PKP2 Q99959 VAR_065716 p.Tyr631Cys LP/P rs1060501183 Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_065717 p.Gly673Val US rs1426480515 Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_065718 p.Leu787Phe LP/P rs1462688980 Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_070037 p.Arg490Trp LB/B rs149930872 - PKP2 Q99959 VAR_070276 p.Asn76Ser LB/B rs1201224837 - PKP2 Q99959 VAR_070277 p.Lys112Asn LB/B - - PKP2 Q99959 VAR_080397 p.Gln59Leu US rs730880179 Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040] PLA1A Q53H76 VAR_030126 p.Ser23Ile LB/B rs1128293 - PLA1A Q53H76 VAR_030127 p.Arg110His LB/B rs61733987 - PLA1A Q53H76 VAR_030128 p.Ser284Asn LB/B rs2692622 - PLA2G1B P04054 VAR_011911 p.Asp16Ala LB/B rs5632 - PLA2G1B P04054 VAR_011912 p.Asn89Thr LB/B rs5635 - PLA2G1B P04054 VAR_011913 p.Asn89Lys LB/B rs5636 - PLA2G2A P14555 VAR_018953 p.His19Tyr LB/B rs11573162 - PLA2G2C Q5R387 VAR_039057 p.Gln139Arg LB/B rs6426616 - PLA2G2D Q9UNK4 VAR_012741 p.Ser80Gly LB/B rs584367 - PLA2G2D Q9UNK4 VAR_055387 p.Gln65His LB/B rs62541890 - PLA2G2D Q9UNK4 VAR_055388 p.His73Arg LB/B rs62541891 - PLA2G2D Q9UNK4 VAR_055389 p.His96Arg LB/B rs62541892 - PLA2G2D Q9UNK4 VAR_055390 p.Arg121Cys LB/B rs62541900 - PLA2G2D Q9UNK4 VAR_055391 p.Arg121Leu LB/B rs62541901 - PLA2G3 Q9NZ20 VAR_020288 p.Leu157Val LB/B rs2074735 - PLA2G3 Q9NZ20 VAR_024555 p.Ser70Ala LB/B rs2232176 - PLA2G3 Q9NZ20 VAR_024556 p.Glu116Gln LB/B rs2074734 - PLA2G3 Q9NZ20 VAR_024557 p.Ser322Arg LB/B rs2072193 - PLA2G3 Q9NZ20 VAR_034366 p.Arg378Gln LB/B rs2232183 - PLA2G3 Q9NZ20 VAR_056581 p.His307Tyr LB/B rs2232180 - PLA2G4A P47712 VAR_018424 p.Arg651Lys LB/B rs2307198 - PLA2G4A P47712 VAR_018760 p.Val224Ile LB/B rs12720588 - PLA2G4A P47712 VAR_029276 p.Gly103Arg LB/B rs28395828 - PLA2G4A P47712 VAR_035826 p.His442Gln US rs370896190 A breast cancer sample PLA2G4A P47712 VAR_062128 p.Ile637Val LB/B rs28395831 - PLA2G4A P47712 VAR_070778 p.Ser111Pro US rs121434634 Gastrointestinal ulceration, recurrent, with dysfunctional platelets (GURDP) [MIM:618372] PLA2G4A P47712 VAR_070779 p.Arg485His US rs121434635 Gastrointestinal ulceration, recurrent, with dysfunctional platelets (GURDP) [MIM:618372] PLA2G4A P47712 VAR_082091 p.Asp575His LP/P rs1557895416 Gastrointestinal ulceration, recurrent, with dysfunctional platelets (GURDP) [MIM:618372] PLA2G4B P0C869 VAR_027047 p.Arg191Cys LB/B rs3816533 - PLA2G4B P0C869 VAR_027048 p.Met239Ile LB/B rs2290552 - PLA2G4B P0C869 VAR_034365 p.Arg391His LB/B rs34807597 - PLA2G4B P0C869 VAR_060082 p.Thr591Ile LB/B rs36126315 - PLA2G4C Q9UP65 VAR_018420 p.Ala38Pro LB/B rs2307279 - PLA2G4C Q9UP65 VAR_018421 p.Ile143Val LB/B rs2303744 - PLA2G4C Q9UP65 VAR_018422 p.Ser203Pro LB/B rs156631 - PLA2G4C Q9UP65 VAR_018423 p.Arg430Cys LB/B rs191276960 - PLA2G4C Q9UP65 VAR_018761 p.Glu21Lys LB/B rs11564522 - PLA2G4C Q9UP65 VAR_018762 p.Ala127Val LB/B rs11564532 - PLA2G4C Q9UP65 VAR_018763 p.Val142Phe LB/B rs11564534 - PLA2G4C Q9UP65 VAR_018764 p.Arg148Gly LB/B rs2307282 - PLA2G4C Q9UP65 VAR_018765 p.Pro151Leu LB/B rs11564538 - PLA2G4C Q9UP65 VAR_018766 p.Thr226Ser LB/B rs11564541 - PLA2G4C Q9UP65 VAR_018767 p.Thr360Pro LB/B rs11564620 - PLA2G4C Q9UP65 VAR_018768 p.Asp411Asn LB/B rs11564638 - PLA2G4D Q86XP0 VAR_027049 p.Arg573Trp LB/B rs17747505 - PLA2G4D Q86XP0 VAR_027050 p.Ala649Gly LB/B rs17690899 - PLA2G4D Q86XP0 VAR_027051 p.Arg747Gly LB/B rs528906489 - PLA2G4D Q86XP0 VAR_057676 p.Pro275Arg LB/B rs11635685 - PLA2G4D Q86XP0 VAR_057677 p.Ser434Thr LB/B rs4924618 - PLA2G4D Q86XP0 VAR_057678 p.Arg783Gln LB/B rs750052 - PLA2G4D Q86XP0 VAR_057679 p.Arg807Gln LB/B rs750051 - PLA2G4E Q3MJ16 VAR_027052 p.Asn400Ser LB/B rs4924595 - PLA2G4E Q3MJ16 VAR_027053 p.Ala693Thr LB/B rs8030775 - PLA2G4F Q68DD2 VAR_027054 p.Met740Val LB/B rs1356410 - PLA2G4F Q68DD2 VAR_053553 p.Gly30Val LB/B rs636604 - PLA2G5 P39877 VAR_067343 p.Gly45Cys LP/P rs387906795 Fleck retina, familial benign (FRFB) [MIM:228980] PLA2G5 P39877 VAR_067344 p.Gly49Ser LP/P rs387906796 Fleck retina, familial benign (FRFB) [MIM:228980] PLA2G6 O60733 VAR_018961 p.Val58Ile LB/B rs11570605 - PLA2G6 O60733 VAR_018962 p.Arg63Gly LB/B rs11570606 - PLA2G6 O60733 VAR_018963 p.Arg70Gln LB/B rs11570607 - PLA2G6 O60733 VAR_018964 p.Asp183Asn LB/B rs11570646 - PLA2G6 O60733 VAR_018965 p.Ala343Thr LB/B rs11570680 - PLA2G6 O60733 VAR_029371 p.Val310Glu LP/P rs121908682 Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600] PLA2G6 O60733 VAR_029372 p.Lys545Thr LP/P rs121908681 Neurodegeneration with brain iron accumulation 2B (NBIA2B) [MIM:610217] PLA2G6 O60733 VAR_029373 p.Arg632Trp LP/P rs121908683 Neurodegeneration with brain iron accumulation 2B (NBIA2B) [MIM:610217] PLA2G6 O60733 VAR_037903 p.Ser774Thr LB/B rs34184838 - PLA2G6 O60733 VAR_062530 p.Arg741Gln LP/P rs121908686 Parkinson disease 14 (PARK14) [MIM:612953] PLA2G6 O60733 VAR_062531 p.Arg747Trp LP/P rs121908687 Parkinson disease 14 (PARK14) [MIM:612953] PLA2G6 O60733 VAR_070600 p.Asp484Gly LP/P - Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600] PLA2G6 O60733 VAR_070601 p.Thr661Met LP/P rs767689496 Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600] PLA2G6 O60733 VAR_079753 p.Arg550Trp LB/B rs1004616610 - PLA2G6 O60733 VAR_083527 p.Ala341Thr LP/P - Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600] PLA2G6 O60733 VAR_083528 p.Gly517Cys LP/P - Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600] PLA2G6 O60733 VAR_083529 p.Gly638Arg LP/P - Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600] PLA2G6 O60733 VAR_083530 p.Arg741Trp LP/P - Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600] PLA2G7 Q13093 VAR_004268 p.Val279Phe LP/P rs76863441 Platelet-activating factor acetylhydrolase deficiency (PAFAD) [MIM:614278] PLA2G7 Q13093 VAR_011583 p.Arg92His LB/B rs1805017 - PLA2G7 Q13093 VAR_011584 p.Ile198Thr LB/B rs1805018 - PLA2G7 Q13093 VAR_011585 p.Gln281Arg LP/P rs201256712 Platelet-activating factor acetylhydrolase deficiency (PAFAD) [MIM:614278] PLA2G7 Q13093 VAR_011586 p.Val379Ala LB/B rs1051931 - PLA2G7 Q13093 VAR_047970 p.Leu45Pro LB/B rs45521937 - PLA2G7 Q13093 VAR_047971 p.Lys191Asn LB/B rs45454695 - PLA2R1 Q13018 VAR_037203 p.Arg142Gln LB/B rs12327936 - PLA2R1 Q13018 VAR_037204 p.Pro177Ser LB/B rs13394676 - PLA2R1 Q13018 VAR_037205 p.Ile279Val LB/B rs965290 - PLA2R1 Q13018 VAR_037206 p.Met292Val LB/B rs3749117 - PLA2R1 Q13018 VAR_037207 p.His300Asp LB/B rs35771982 - PLA2R1 Q13018 VAR_037208 p.Arg404His LB/B rs33985939 - PLA2R1 Q13018 VAR_037209 p.Gly1106Ser LB/B rs3828323 - PLA2R1 Q13018 VAR_061354 p.Ala370Glu LB/B rs34916310 - PLAA Q9Y263 VAR_079276 p.Gly23Val LP/P rs747956857 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) [MIM:617527] PLAA Q9Y263 VAR_079277 p.Leu752Phe LP/P rs1114167457 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) [MIM:617527] PLAAT4 Q9UL19 VAR_049480 p.Val69Leu LB/B rs35502888 - PLAAT4 Q9UL19 VAR_049481 p.Ala162Val LB/B rs35845275 - PLAAT5 Q96KN8 VAR_024486 p.Ala93Pro LB/B rs940611 - PLAAT5 Q96KN8 VAR_049477 p.Ser31Gly LB/B rs10897424 - PLAAT5 Q96KN8 VAR_049478 p.Gln214Arg LB/B rs35735923 - PLAAT5 Q96KN8 VAR_049479 p.Ala258Val LB/B rs35375575 - PLAC8L1 A1L4L8 VAR_037245 p.Cys11Ser LB/B rs12187913 - PLAG1 Q6DJT9 VAR_033212 p.Pro458Thr LB/B rs35883156 - PLAGL1 Q9UM63 VAR_052729 p.Ala272Val LB/B rs35263016 - PLAT P00750 VAR_011783 p.Arg164Trp LB/B rs2020921 - PLAT P00750 VAR_020181 p.Ala34Asp LB/B rs8178733 - PLAT P00750 VAR_038732 p.Arg136Ser LB/B rs8178747 - PLAT P00750 VAR_038733 p.Ala146Thr LB/B rs8178748 - PLAU P00749 VAR_006722 p.Leu141Pro LB/B rs2227564 - PLAU P00749 VAR_013102 p.Ile214Met LB/B rs1050120 - PLAU P00749 VAR_038730 p.Val15Leu LB/B rs2227580 - PLAU P00749 VAR_038731 p.Lys231Gln LB/B rs2227567 - PLAUR Q03405 VAR_014922 p.Leu317Pro LB/B rs4760 - PLAUR Q03405 VAR_016322 p.Glu55Gly LB/B rs4251813 - PLAUR Q03405 VAR_016323 p.Thr86Ala LB/B rs399145 - PLAUR Q03405 VAR_016324 p.Arg105Gln LB/B rs4251878 - PLAUR Q03405 VAR_016325 p.Lys220Arg LB/B rs2302524 - PLAUR Q03405 VAR_016326 p.Asn281Lys LB/B rs4251921 - PLAUR Q03405 VAR_052698 p.Asp297Ala LB/B rs16976608 - PLB1 Q6P1J6 VAR_039793 p.Val212Leu LB/B rs6753929 - PLB1 Q6P1J6 VAR_039794 p.Met708Val LB/B rs11681826 - PLB1 Q6P1J6 VAR_039795 p.Gly821Arg LB/B rs10201128 - PLB1 Q6P1J6 VAR_039796 p.His879Asp LB/B rs7601771 - PLB1 Q6P1J6 VAR_039797 p.Ala1318Val LB/B rs2199619 - PLB1 Q6P1J6 VAR_061358 p.Ala987Val LB/B rs34289907 - PLBD1 Q6P4A8 VAR_032072 p.Val265Ile LB/B rs7957558 - PLBD1 Q6P4A8 VAR_032073 p.Val377Ala LB/B rs2287541 - PLBD1 Q6P4A8 VAR_032074 p.Pro534Ala LB/B rs1600 - PLBD2 Q8NHP8 VAR_032075 p.Arg524Cys LB/B rs12425042 - PLBD2 Q8NHP8 VAR_062187 p.Gln54Pro LB/B rs7965471 - PLCB1 Q9NQ66 VAR_036547 p.Ala907Pro US - A breast cancer sample PLCB1 Q9NQ66 VAR_050541 p.Glu854Lys LB/B rs1227346164 - PLCB2 Q00722 VAR_047509 p.Asn324Ile LB/B rs45628633 - PLCB2 Q00722 VAR_047510 p.Arg598His LB/B rs8025153 - PLCB2 Q00722 VAR_047511 p.Pro664Leu LB/B rs9972332 - PLCB2 Q00722 VAR_047512 p.Gly712Arg LB/B rs28395835 - PLCB2 Q00722 VAR_047513 p.Glu1095Gly LB/B rs936212 - PLCB3 Q01970 VAR_029229 p.Arg483His LB/B rs12146487 - PLCB3 Q01970 VAR_084509 p.Ala878Ser LP/P - Spondylometaphyseal dysplasia with corneal dystrophy (SMDCD) [MIM:618961] PLCB4 Q15147 VAR_056694 p.Ala21Thr LB/B rs6077510 - PLCB4 Q15147 VAR_056695 p.Gly710Ser LB/B rs6118603 - PLCB4 Q15147 VAR_068559 p.Asn329Thr LP/P rs387907179 Auriculocondylar syndrome 2A (ARCND2A) [MIM:614669] PLCB4 Q15147 VAR_068560 p.Arg621Cys LP/P rs397514482 Auriculocondylar syndrome 2A (ARCND2A) [MIM:614669] PLCB4 Q15147 VAR_068561 p.Arg621His LP/P rs397514481 Auriculocondylar syndrome 2A (ARCND2A) [MIM:614669] PLCB4 Q15147 VAR_068562 p.Tyr623Cys LP/P rs397514480 Auriculocondylar syndrome 2A (ARCND2A) [MIM:614669] PLCB4 Q15147 VAR_068563 p.Asn650His LP/P rs397514483 Auriculocondylar syndrome 2A (ARCND2A) [MIM:614669] PLCB4 Q15147 VAR_088767 p.His328Arg LP/P - Auriculocondylar syndrome 2A (ARCND2A) [MIM:614669] PLCB4 Q15147 VAR_088768 p.Gly339Arg US - Auriculocondylar syndrome 2A (ARCND2A) [MIM:614669] PLCB4 Q15147 VAR_088769 p.Glu358Gln LP/P - Auriculocondylar syndrome 2A (ARCND2A) [MIM:614669] PLCB4 Q15147 VAR_088770 p.Glu358Val LP/P - Auriculocondylar syndrome 2A (ARCND2A) [MIM:614669] PLCB4 Q15147 VAR_088771 p.Asp360Asn LP/P - Auriculocondylar syndrome 2A (ARCND2A) [MIM:614669] PLCB4 Q15147 VAR_088772 p.Asp360Val LP/P - Auriculocondylar syndrome 2A (ARCND2A) [MIM:614669] PLCB4 Q15147 VAR_088773 p.Ile569Phe US - Auriculocondylar syndrome 2A (ARCND2A) [MIM:614669] PLCB4 Q15147 VAR_088774 p.Arg621Leu LP/P - Auriculocondylar syndrome 2A (ARCND2A) [MIM:614669] PLCD1 P51178 VAR_046560 p.Arg257His LB/B rs933135 - PLCD1 P51178 VAR_066399 p.Thr209Arg LP/P - Nail disorder, non-syndromic congenital, 3 (NDNC3) [MIM:151600] PLCD1 P51178 VAR_066400 p.Ile574Thr LP/P - Nail disorder, non-syndromic congenital, 3 (NDNC3) [MIM:151600] PLCD3 Q8N3E9 VAR_035316 p.Pro652Leu LB/B rs734921 - PLCE1 Q9P212 VAR_029883 p.Ser1484Leu LP/P rs121912605 Nephrotic syndrome 3 (NPHS3) [MIM:610725] PLCE1 Q9P212 VAR_031843 p.Ser469Thr LB/B rs17508082 - PLCE1 Q9P212 VAR_031844 p.Arg548Leu LB/B rs17417407 - PLCE1 Q9P212 VAR_031845 p.Arg1575Pro LB/B rs2274224 - PLCE1 Q9P212 VAR_031846 p.Thr1777Ile LB/B rs3765524 - PLCE1 Q9P212 VAR_031847 p.His1927Arg LB/B rs2274223 - PLCE1 Q9P212 VAR_087601 p.Lys2173Arg LB/B rs111929795 - PLCG1 P19174 VAR_011908 p.Ile813Thr LB/B rs753381 - PLCG1 P19174 VAR_022130 p.Ser279Gly LB/B rs2228246 - PLCG1 P19174 VAR_025213 p.Thr209Asn LB/B rs2229348 - PLCG1 P19174 VAR_025214 p.Ser739Thr LB/B rs34203315 - PLCG2 P16885 VAR_031560 p.His244Arg LB/B rs11548656 - PLCG2 P16885 VAR_031561 p.Arg268Trp LB/B rs1143687 - PLCG2 P16885 VAR_047427 p.Thr541Ala LB/B rs11548657 - PLCG2 P16885 VAR_047428 p.Asp883Tyr LB/B rs17856213 - PLCG2 P16885 VAR_069211 p.Ser707Tyr LP/P rs397514562 Autoinflammation, antibody deficiency, and immune dysregulation (APLAID) [MIM:614878] PLCG2 P16885 VAR_074310 p.Arg665Trp US rs1057519831 - PLCG2 P16885 VAR_074311 p.Leu845Phe US rs1057519832 - PLCL1 Q15111 VAR_038993 p.Asp445Asn LB/B rs45506698 - PLCL1 Q15111 VAR_038994 p.Pro454Ser LB/B rs45506696 - PLCL1 Q15111 VAR_038995 p.Ser546Phe LB/B rs45596936 - PLCL1 Q15111 VAR_038996 p.Val667Ile LB/B rs1064213 - PLCL1 Q15111 VAR_038997 p.Trp684Cys LB/B rs6741084 - PLCL1 Q15111 VAR_038998 p.Ser937Asn LB/B rs45452996 - PLCL2 Q9UPR0 VAR_032507 p.Gln211Arg LB/B rs17853614 - PLCL2 Q9UPR0 VAR_032508 p.Val635Met LB/B rs17857109 - PLCL2 Q9UPR0 VAR_032509 p.Ala742Val LB/B rs17857110 - PLCL2 Q9UPR0 VAR_032510 p.Pro809His LB/B rs17853612 - PLCL2 Q9UPR0 VAR_032511 p.His890Arg LB/B rs17853613 - PLCZ1 Q86YW0 VAR_050542 p.Ser500Leu LB/B rs10505830 - PLCZ1 Q86YW0 VAR_077876 p.Ile489Phe LP/P rs757326350 Spermatogenic failure 17 (SPGF17) [MIM:617214] PLD1 Q13393 VAR_022056 p.Ala622Ser LB/B rs2290480 - PLD1 Q13393 VAR_022057 p.Val820Met LB/B rs2287579 - PLD1 Q13393 VAR_034387 p.Pro49Ala LB/B rs9819927 - PLD1 Q13393 VAR_051703 p.Val1024Ile LB/B rs9827333 - PLD1 Q13393 VAR_078985 p.His442Pro LP/P rs769669104 Cardiac valvular dysplasia 1 (CVDP1) [MIM:212093] PLD2 O14939 VAR_036503 p.Gln807Glu US - A breast cancer sample PLD2 O14939 VAR_051704 p.Arg172Cys LB/B rs2286672 - PLD2 O14939 VAR_051705 p.Thr577Ile LB/B rs1052748 - PLD2 O14939 VAR_051706 p.Ala804Thr LB/B rs11545163 - PLD2 O14939 VAR_051707 p.Gly821Arg LB/B rs3764897 - PLD2 O14939 VAR_059774 p.Gly821Ser LB/B rs3764897 - PLD2 O14939 VAR_061750 p.Glu632Gly LB/B rs17854914 - PLD3 Q8IV08 VAR_071186 p.Val232Met US rs145999145 - PLD3 Q8IV08 VAR_075905 p.Gly63Ser LB/B rs142070038 - PLD3 Q8IV08 VAR_075906 p.Pro76Ala LB/B rs138674695 - PLD3 Q8IV08 VAR_075907 p.Val159Met LB/B rs374184677 - PLD3 Q8IV08 VAR_075908 p.Arg162Cys LB/B - - PLD3 Q8IV08 VAR_075909 p.Pro173Ser LB/B rs866850284 - PLD3 Q8IV08 VAR_075910 p.Ala175Gly LB/B rs780604999 - PLD3 Q8IV08 VAR_075911 p.Arg188Cys LB/B rs1326374111 - PLD3 Q8IV08 VAR_075912 p.Arg222His LB/B rs765630414 - PLD3 Q8IV08 VAR_075913 p.Arg242Gln LB/B rs757965784 - PLD3 Q8IV08 VAR_075914 p.Glu249Gly LB/B rs746715924 - PLD3 Q8IV08 VAR_075915 p.Arg272Cys LB/B rs144312764 - PLD3 Q8IV08 VAR_075916 p.Asn284Ser LB/B rs200274020 - PLD3 Q8IV08 VAR_075917 p.Ala293Val LB/B rs368737000 - PLD3 Q8IV08 VAR_075918 p.Pro297Leu LB/B - - PLD3 Q8IV08 VAR_075919 p.Cys300Tyr LB/B rs146083475 - PLD3 Q8IV08 VAR_075920 p.Leu308Pro US rs537053537 Spinocerebellar ataxia 46 (SCA46) [MIM:617770] PLD3 Q8IV08 VAR_075921 p.Val358Ile LB/B rs370488565 - PLD3 Q8IV08 VAR_075922 p.Thr426Ala LB/B rs745463234 - PLD3 Q8IV08 VAR_075923 p.Gly429Arg LB/B rs986006936 - PLD4 Q96BZ4 VAR_031119 p.Glu27Gln LB/B rs2841280 - PLD4 Q96BZ4 VAR_031120 p.Val135Met LB/B rs3803295 - PLD4 Q96BZ4 VAR_061751 p.Cys16Arg LB/B rs894037 - PLD6 Q8N2A8 VAR_039951 p.Leu42Pro LB/B rs17856924 - PLD6 Q8N2A8 VAR_039952 p.Arg108His LB/B rs11551966 - PLEC Q15149 VAR_015817 p.Arg2110Trp LP/P rs80338756 Epidermolysis bullosa simplex 5A, Ogna type (EBS5A) [MIM:131950] PLEC Q15149 VAR_053585 p.Ala641Val LB/B rs11136336 - PLEC Q15149 VAR_053586 p.Arg2150Trp LB/B rs34893635 - PLEC Q15149 VAR_053587 p.Ala2194Val LB/B rs7002002 - PLEC Q15149 VAR_053588 p.Ser2791Pro LB/B rs7833924 - PLEC Q15149 VAR_053589 p.Arg2821Trp LB/B rs35723243 - PLEC Q15149 VAR_053590 p.Arg2969His LB/B rs6558407 - PLEC Q15149 VAR_053591 p.Val3162Ile LB/B rs35027700 - PLEC Q15149 VAR_053592 p.Ala3171Val LB/B rs35858667 - PLEC Q15149 VAR_053593 p.Thr3486Met LB/B rs34725742 - PLEC Q15149 VAR_053594 p.Gly3490Ala LB/B rs35261863 - PLEC Q15149 VAR_060088 p.Leu1321Val LB/B rs3135109 - PLEC Q15149 VAR_060089 p.Arg1386Gln LB/B rs11136334 - PLEC Q15149 VAR_062133 p.His1459Arg LB/B rs55895668 - PLEC Q15149 VAR_075706 p.Arg102His LB/B rs200335928 - PLEC Q15149 VAR_076564 p.Arg2005Trp LB/B rs200543521 - PLEC Q15149 VAR_076565 p.Gly3945Ser LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 17 (LGMDR17) [MIM:613723] PLEK P08567 VAR_005524 p.Trp92Arg LB/B - - PLEK P08567 VAR_027797 p.Arg5Trp LB/B rs17035364 - PLEK P08567 VAR_027798 p.Lys97Asn LB/B rs3816281 - PLEK P08567 VAR_027799 p.Arg340Lys LB/B rs1063479 - PLEK P08567 VAR_056666 p.Lys108Gln LB/B rs34515106 - PLEK2 Q9NYT0 VAR_050504 p.Thr80Met LB/B rs34300264 - PLEKHA1 Q9HB21 VAR_024562 p.Thr320Ala LB/B rs1045216 - PLEKHA2 Q9HB19 VAR_061516 p.Ile186Asn LB/B rs59439576 - PLEKHA4 Q9H4M7 VAR_056667 p.Ile37Val LB/B rs506425 - PLEKHA4 Q9H4M7 VAR_056668 p.Arg597Gln LB/B rs12460394 - PLEKHA4 Q9H4M7 VAR_056669 p.Thr714Ala LB/B rs34460869 - PLEKHA4 Q9H4M7 VAR_056670 p.Gly742Val LB/B rs35965411 - PLEKHA6 Q9Y2H5 VAR_037145 p.Val43Ile LB/B rs10900571 - PLEKHA6 Q9Y2H5 VAR_037146 p.Arg837Lys LB/B rs10900562 - PLEKHA7 Q6IQ23 VAR_032346 p.Leu241Ile LB/B rs35908144 - PLEKHA7 Q6IQ23 VAR_032347 p.Ala248Val LB/B rs16933529 - PLEKHA7 Q6IQ23 VAR_032348 p.Gln279Arg LB/B rs369819 - PLEKHA7 Q6IQ23 VAR_032349 p.Val693Ile LB/B rs34556458 - PLEKHA7 Q6IQ23 VAR_061517 p.Ser689Arg LB/B rs61133161 - PLEKHA8 Q96JA3 VAR_035444 p.Val368Glu US - A breast cancer sample PLEKHG1 Q9ULL1 VAR_051988 p.Gln787Arg LB/B rs17080381 - PLEKHG1 Q9ULL1 VAR_051989 p.Val1071Ala LB/B rs17080410 - PLEKHG1 Q9ULL1 VAR_051990 p.Leu1321Ser LB/B rs17054318 - PLEKHG1 Q9ULL1 VAR_061797 p.Gln1377Pro LB/B rs58786678 - PLEKHG2 Q9H7P9 VAR_035324 p.Thr540Ile LB/B rs35904695 - PLEKHG2 Q9H7P9 VAR_035325 p.Ile622Val LB/B rs16973407 - PLEKHG2 Q9H7P9 VAR_035326 p.Arg647His LB/B rs10407035 - PLEKHG2 Q9H7P9 VAR_035327 p.Arg992Lys LB/B rs31726 - PLEKHG2 Q9H7P9 VAR_035328 p.Ala1302Thr LB/B rs34603507 - PLEKHG2 Q9H7P9 VAR_035329 p.Pro1329Ala LB/B rs31728 - PLEKHG2 Q9H7P9 VAR_078577 p.Arg204Trp LP/P rs201201843 Leukodystrophy and acquired microcephaly with or without dystonia (LDAMD) [MIM:616763] PLEKHG3 A1L390 VAR_035330 p.Arg1036Trp LB/B rs229649 - PLEKHG3 A1L390 VAR_061518 p.Arg1014His LB/B rs41309246 - PLEKHG4 Q58EX7 VAR_050509 p.Thr412Ile LB/B rs11860295 - PLEKHG4 Q58EX7 VAR_050510 p.Asp525Gly LB/B rs8044843 - PLEKHG4 Q58EX7 VAR_050511 p.Arg830His LB/B rs3868142 - PLEKHG4 Q58EX7 VAR_050512 p.Ser1090Thr LB/B rs17680862 - PLEKHG4 Q58EX7 VAR_061519 p.Arg1064His LB/B rs56077142 - PLEKHG4B Q96PX9 VAR_056672 p.Ala72Thr LB/B rs12523402 - PLEKHG4B Q96PX9 VAR_056673 p.Gly149Ser LB/B rs11949577 - PLEKHG4B Q96PX9 VAR_056674 p.Arg220His LB/B rs13436090 - PLEKHG4B Q96PX9 VAR_056675 p.Ala660Val LB/B rs3810869 - PLEKHG4B Q96PX9 VAR_059547 p.Val37Ala LB/B rs12516846 - PLEKHG4B Q96PX9 VAR_060453 p.Thr669Pro LB/B rs29674 - PLEKHG4B Q96PX9 VAR_060454 p.Arg1076Gln LB/B rs4956987 - PLEKHG4B Q96PX9 VAR_060455 p.Arg1146Gly LB/B rs12519352 - PLEKHG5 O94827 VAR_035357 p.Phe647Ser LP/P rs63750315 Neuronopathy, distal hereditary motor, autosomal recessive 4 (HMNR4) [MIM:611067] PLEKHG5 O94827 VAR_070217 p.Thr663Met LP/P rs397515456 Charcot-Marie-Tooth disease, recessive intermediate C (CMTRIC) [MIM:615376] PLEKHG5 O94827 VAR_070218 p.Gly820Arg LP/P rs202191898 Charcot-Marie-Tooth disease, recessive intermediate C (CMTRIC) [MIM:615376] PLEKHG6 Q3KR16 VAR_036710 p.Ala35Thr LB/B rs740842 - PLEKHG7 Q6ZR37 VAR_050513 p.Asp411Gly LB/B rs17790310 - PLEKHG7 Q6ZR37 VAR_050514 p.Met524Thr LB/B rs924326 - PLEKHH1 Q9ULM0 VAR_037094 p.Asn75Ser LB/B rs7150973 - PLEKHH1 Q9ULM0 VAR_037095 p.Gln113Leu LB/B rs3825723 - PLEKHH1 Q9ULM0 VAR_037096 p.Arg322Gln LB/B rs2236235 - PLEKHH1 Q9ULM0 VAR_037097 p.Thr430Ala LB/B rs3825725 - PLEKHH1 Q9ULM0 VAR_037098 p.Met438Val LB/B rs17104428 - PLEKHH1 Q9ULM0 VAR_037099 p.His735Arg LB/B rs11158685 - PLEKHH2 Q8IVE3 VAR_035344 p.Pro481Thr LB/B rs17031297 - PLEKHH2 Q8IVE3 VAR_035345 p.Arg1069Lys LB/B rs2278358 - PLEKHH2 Q8IVE3 VAR_035346 p.Asn1217Ser LB/B rs17031368 - PLEKHH2 Q8IVE3 VAR_055542 p.Met228Val LB/B rs10175843 - PLEKHH3 Q7Z736 VAR_061520 p.Gln547His LB/B rs8071056 - PLEKHM1 Q9Y4G2 VAR_036932 p.Arg377His LB/B rs1859059 - PLEKHM1 Q9Y4G2 VAR_081102 p.Arg714Cys US rs559224144 Osteopetrosis, autosomal dominant 3 (OPTA3) [MIM:618107] PLEKHM2 Q8IWE5 VAR_036950 p.Ile32Thr LB/B rs12091750 - PLEKHN1 Q494U1 VAR_036946 p.Arg487Pro LB/B rs3829740 - PLEKHO1 Q53GL0 VAR_037034 p.Pro21Ala LB/B rs2306235 - PLEKHO2 Q8TD55 VAR_036964 p.Pro290Ser LB/B rs2010875 - PLEKHS1 Q5SXH7 VAR_039275 p.Val323Ile LB/B rs34024791 - PLEKHS1 Q5SXH7 VAR_080192 p.Ser254Tyr LB/B - - PLET1 Q6UQ28 VAR_039321 p.Ser142Pro LB/B rs2564872 - PLG P00747 VAR_006627 p.Val374Phe LP/P rs121918028 Plasminogen deficiency (PLGD) [MIM:217090] PLG P00747 VAR_006628 p.Ser591Pro LP/P rs121918029 Plasminogen deficiency (PLGD) [MIM:217090] PLG P00747 VAR_006629 p.Ala620Thr LP/P rs121918027 Plasminogen deficiency (PLGD) [MIM:217090] PLG P00747 VAR_006630 p.Gly751Arg LP/P rs121918033 Plasminogen deficiency (PLGD) [MIM:217090] PLG P00747 VAR_011779 p.Ile46Arg LB/B rs1049573 - PLG P00747 VAR_011780 p.Lys453Ile LB/B rs1804181 - PLG P00747 VAR_016287 p.Glu57Lys LB/B rs4252070 - PLG P00747 VAR_016288 p.His133Gln LB/B rs4252186 - PLG P00747 VAR_016289 p.Arg261His LB/B rs4252187 - PLG P00747 VAR_016290 p.Arg408Trp LB/B rs4252119 - PLG P00747 VAR_016291 p.Asp472Asn LB/B rs4252125 - PLG P00747 VAR_016292 p.Ala494Val LB/B rs4252128 - PLG P00747 VAR_016293 p.Arg523Trp LB/B rs4252129 - PLG P00747 VAR_018657 p.Lys38Glu LP/P rs73015965 Plasminogen deficiency (PLGD) [MIM:217090] PLG P00747 VAR_018658 p.Leu147Pro LP/P rs770198253 Plasminogen deficiency (PLGD) [MIM:217090] PLG P00747 VAR_018659 p.Arg235His LP/P rs121918030 Plasminogen deficiency (PLGD) [MIM:217090] PLG P00747 VAR_018660 p.Arg532His LP/P - Plasminogen deficiency (PLGD) [MIM:217090] PLG P00747 VAR_031213 p.Val676Asp LB/B rs17857492 - PLG P00747 VAR_085811 p.Arg89Lys LB/B rs143079629 - PLG P00747 VAR_085812 p.Lys330Glu LP/P rs889957249 Angioedema, hereditary, 4 (HAE4) [MIM:619360] PLG P00747 VAR_085813 p.Val728Glu US rs1582955358 Angioedema, hereditary, 4 (HAE4) [MIM:619360] PLIN1 O60240 VAR_055046 p.Pro194Ala LB/B rs6496589 - PLIN1 O60240 VAR_055047 p.Lys210Glu LB/B rs17852910 - PLIN1 O60240 VAR_055048 p.Ser348Leu LB/B rs8179071 - PLIN1 O60240 VAR_061505 p.Ala271Val LB/B rs58361219 - PLIN2 Q99541 VAR_061506 p.Ser251Pro LB/B rs35568725 - PLIN3 O60664 VAR_022780 p.Ile56Val LB/B rs8289 - PLIN3 O60664 VAR_024559 p.Val275Ala LB/B rs9973235 - PLIN4 Q96Q06 VAR_034637 p.Ala1138Thr LB/B rs7251858 - PLIN4 Q96Q06 VAR_050483 p.Ser673Gly LB/B rs7260518 - PLIN4 Q96Q06 VAR_050484 p.Arg1148Cys LB/B rs7250947 - PLIN4 Q96Q06 VAR_061507 p.Val138Ala LB/B rs4807597 - PLIN4 Q96Q06 VAR_061508 p.Thr435Ala LB/B rs55901236 - PLIN4 Q96Q06 VAR_061509 p.Lys775Asn LB/B rs7256387 - PLIN4 Q96Q06 VAR_061510 p.Met816Thr LB/B rs7256712 - PLIN4 Q96Q06 VAR_061511 p.Ala840Glu LB/B rs7255187 - PLIN4 Q96Q06 VAR_061512 p.Ala840Gly LB/B rs7255187 - PLIN4 Q96Q06 VAR_061513 p.Ala840Val LB/B rs7255187 - PLIN4 Q96Q06 VAR_061514 p.Lys874Asn LB/B rs7259721 - PLIN5 Q00G26 VAR_043850 p.Ala6Val LB/B rs10407239 - PLIN5 Q00G26 VAR_043851 p.Cys255Arg LB/B rs1610090 - PLIN5 Q00G26 VAR_043852 p.Arg306Trp LB/B rs1062223 - PLK1 P53350 VAR_041018 p.Arg12Leu US - A lung squamous cell carcinoma sample PLK1 P53350 VAR_041019 p.Leu261Phe LB/B rs35056440 - PLK1 P53350 VAR_041020 p.Leu332Val LB/B rs45489499 - PLK1 P53350 VAR_041021 p.Leu463His LB/B rs45569335 - PLK1 P53350 VAR_041022 p.Arg518His LB/B rs56027600 - PLK1 P53350 VAR_051659 p.Asn297Asp LB/B rs16972799 - PLK1 P53350 VAR_051660 p.Ser595Leu LB/B rs34001032 - PLK1 P53350 VAR_051661 p.Arg599His LB/B rs34954545 - PLK2 Q9NYY3 VAR_041023 p.Ser14Thr US rs1404394734 An ovarian Endometrioid carcinoma sample PLK2 Q9NYY3 VAR_041024 p.Gly92Ser US - A lung adenocarcinoma sample PLK2 Q9NYY3 VAR_041025 p.Glu436Lys LB/B rs55768901 - PLK2 Q9NYY3 VAR_041026 p.Pro487Leu LB/B rs55645589 - PLK3 Q9H4B4 VAR_021091 p.Thr61Ser LB/B rs17884581 - PLK3 Q9H4B4 VAR_021092 p.Leu68Phe LB/B rs17884316 - PLK3 Q9H4B4 VAR_021093 p.Leu283Phe LB/B rs17880471 - PLK3 Q9H4B4 VAR_021094 p.Arg483Cys LB/B rs17884653 - PLK3 Q9H4B4 VAR_021095 p.Ser498Leu LB/B rs17880829 - PLK3 Q9H4B4 VAR_021096 p.Ser618Pro LB/B rs17881786 - PLK3 Q9H4B4 VAR_062384 p.Asp491Asn LB/B rs17855444 - PLK4 O00444 VAR_019632 p.Ser232Thr LB/B rs3811740 - PLK4 O00444 VAR_041027 p.Tyr86Cys LB/B rs34156294 - PLK4 O00444 VAR_041028 p.Arg146His LB/B rs35232579 - PLK4 O00444 VAR_041029 p.Ala226Thr LB/B rs35448573 - PLK4 O00444 VAR_041030 p.Pro317Leu LB/B rs35049837 - PLK4 O00444 VAR_041031 p.Asn449Asp LB/B rs34906574 - PLK4 O00444 VAR_041032 p.Trp519Ser LB/B rs56043017 - PLK4 O00444 VAR_041033 p.Glu830Asp LB/B rs17012739 - PLN P26678 VAR_025989 p.Arg9Cys LP/P rs111033559 Cardiomyopathy, dilated, 1P (CMD1P) [MIM:609909] PLN P26678 VAR_072925 p.Arg9His LP/P rs754782171 Cardiomyopathy, dilated, 1P (CMD1P) [MIM:609909] PLN P26678 VAR_072926 p.Arg9Leu LP/P - Cardiomyopathy, dilated, 1P (CMD1P) [MIM:609909] PLOD1 Q02809 VAR_006355 p.Trp612Cys LP/P rs121913553 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) [MIM:225400] PLOD1 Q02809 VAR_006356 p.Gly678Arg LP/P rs121913551 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) [MIM:225400] PLOD1 Q02809 VAR_014220 p.Ala99Thr LB/B rs7551175 - PLOD1 Q02809 VAR_023466 p.Trp446Gly LP/P - Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) [MIM:225400] PLOD1 Q02809 VAR_023467 p.Ala667Thr LP/P rs199730384 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) [MIM:225400] PLOD1 Q02809 VAR_023468 p.His706Arg LP/P - Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) [MIM:225400] PLOD1 Q02809 VAR_032754 p.Glu67Asp LB/B rs7551068 - PLOD1 Q02809 VAR_032755 p.Ala84Thr LB/B rs34878020 - PLOD1 Q02809 VAR_032756 p.Ala120Ser LB/B rs2273285 - PLOD1 Q02809 VAR_035479 p.Gln123His US rs1645691361 A breast cancer sample PLOD2 O00469 VAR_022164 p.Arg598His LP/P rs121434461 Bruck syndrome 2 (BRKS2) [MIM:609220] PLOD2 O00469 VAR_022165 p.Gly601Val LP/P rs121434460 Bruck syndrome 2 (BRKS2) [MIM:609220] PLOD2 O00469 VAR_022166 p.Thr608Ile LP/P rs121434459 Bruck syndrome 2 (BRKS2) [MIM:609220] PLOD2 O00469 VAR_069531 p.Gly601Cys LP/P rs762788421 Bruck syndrome 2 (BRKS2) [MIM:609220] PLOD2 O00469 VAR_083432 p.Arg473Gln US rs533478450 - PLOD2 O00469 VAR_083433 p.Thr643Met US rs763670371 - PLOD3 O60568 VAR_012075 p.Arg286Trp LB/B rs1134907 - PLOD3 O60568 VAR_051708 p.Ala151Val LB/B rs35627324 - PLOD3 O60568 VAR_054913 p.Asn223Ser LP/P rs121434414 Bone fragility with contractures, arterial rupture, and deafness (BCARD) [MIM:612394] PLP1 P60201 VAR_004546 p.Pro15Leu LP/P rs11543022 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004547 p.Thr43Ile LP/P rs132630289 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004548 p.Gly74Arg LP/P rs132630285 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004551 p.His140Tyr LP/P rs132630287 Spastic paraplegia 2, X-linked (SPG2) [MIM:312920] PLP1 P60201 VAR_004552 p.Thr156Ile LP/P rs132630280 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004553 p.Trp163Arg LP/P rs132630279 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004554 p.Val166Glu LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004555 p.Thr182Pro LP/P rs132630282 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004556 p.Ile187Thr LP/P rs132630288 Spastic paraplegia 2, X-linked (SPG2) [MIM:312920] PLP1 P60201 VAR_004557 p.Asp203His LP/P rs132630284 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004558 p.Pro216Ser LP/P rs132630278 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004559 p.Gly217Ser LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004560 p.Val219Phe LP/P rs132630281 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004561 p.Gly221Cys LP/P rs132630286 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004562 p.Leu224Pro LP/P rs132630283 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004563 p.Phe237Ser LP/P rs132630291 Spastic paraplegia 2, X-linked (SPG2) [MIM:312920] PLP1 P60201 VAR_004565 p.Ala249Pro LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_007956 p.Asp203Val LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015014 p.Leu31Pro LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015015 p.Phe32Leu LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015016 p.Phe32Val LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015017 p.Cys35Tyr LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015018 p.Ala39Thr LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015019 p.Leu46Pro LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015020 p.Leu46Arg LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015021 p.Phe51Ser LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015022 p.Tyr60Cys LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015023 p.Thr116Lys LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015024 p.His130Tyr LP/P rs878853076 Spastic paraplegia 2, X-linked (SPG2) [MIM:312920] PLP1 P60201 VAR_015025 p.His148Tyr LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015025 p.His148Tyr LP/P - Spastic paraplegia 2, X-linked (SPG2) [MIM:312920] PLP1 P60201 VAR_015026 p.Lys151Asn LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015027 p.Val166Gly US - - PLP1 P60201 VAR_015028 p.Cys169Arg LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015029 p.Ser170Phe LP/P rs132630294 Spastic paraplegia 2, X-linked (SPG2) [MIM:312920] PLP1 P60201 VAR_015030 p.Val172Ala LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015031 p.Tyr175Cys LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015032 p.Trp181Cys LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015033 p.Thr183Asn LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015034 p.Asp203Glu LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015035 p.Asp203Gly LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015036 p.Asp203Asn LP/P rs132630284 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015037 p.Arg205Gly LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015038 p.Tyr207Cys LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015039 p.Val209Asp LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015040 p.Leu210His LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015041 p.Pro211Leu LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015042 p.Trp212Arg LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015043 p.Pro216Ala LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015044 p.Cys220Tyr LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015045 p.Leu224Ile US - - PLP1 P60201 VAR_015046 p.Ser226Pro LP/P - Spastic paraplegia 2, X-linked (SPG2) [MIM:312920] PLP1 P60201 VAR_015047 p.Cys228Tyr LP/P rs398123466 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015048 p.Gln234Pro LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015049 p.Ala242Pro LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015050 p.Gly246Glu LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015051 p.Ala248Glu LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015052 p.Ser253Phe LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046906 p.Cys33Tyr LP/P rs1064794255 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046907 p.Cys35Arg LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046908 p.Tyr50Cys LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046909 p.Ala76Pro LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046910 p.Arg137Trp LP/P rs132630295 Spastic paraplegia 2, X-linked (SPG2) [MIM:312920] PLP1 P60201 VAR_046911 p.Val162Glu LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046912 p.Ser170Pro LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046913 p.Pro173Ser LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046914 p.Pro216Leu LP/P - Spastic paraplegia 2, X-linked (SPG2) [MIM:312920] PLP1 P60201 VAR_046915 p.Leu225Pro LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046916 p.Leu239Pro LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046917 p.Ala243Glu LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046918 p.Ala243Val LP/P - Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046919 p.Gly246Ala LP/P rs398123467 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046920 p.Ala247Thr LP/P rs886043504 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_070667 p.Ala30Pro LP/P - Spastic paraplegia 2, X-linked (SPG2) [MIM:312920] PLP2 Q04941 VAR_011924 p.Ala91Ser LB/B rs1802969 - PLPBP O94903 VAR_052476 p.Val24Met LB/B rs35423325 - PLPBP O94903 VAR_078006 p.Pro87Leu LP/P rs755946598 Epilepsy, early-onset, 1, vitamin B6-dependent (EPEO1) [MIM:617290] PLPBP O94903 VAR_078007 p.Leu175Pro LP/P rs752753379 Epilepsy, early-onset, 1, vitamin B6-dependent (EPEO1) [MIM:617290] PLPBP O94903 VAR_078008 p.Arg241Gln LP/P rs760609867 Epilepsy, early-onset, 1, vitamin B6-dependent (EPEO1) [MIM:617290] PLPP2 O43688 VAR_061541 p.Ala180Val LB/B rs1138439 - PLPP6 Q8IY26 VAR_026645 p.Ser140Trp LB/B rs17857157 - PLPP6 Q8IY26 VAR_050616 p.Ser7Gly LB/B rs34250374 - PLPP6 Q8IY26 VAR_050617 p.Met8Thr LB/B rs35791393 - PLPP7 Q8NBV4 VAR_026646 p.Thr174Met LB/B rs2966332 - PLPP7 Q8NBV4 VAR_026647 p.Leu267Val LB/B rs11244366 - PLPPR2 Q96GM1 VAR_038546 p.Thr155Met US - A colorectal cancer sample PLPPR3 Q6T4P5 VAR_038544 p.Ile193Thr LB/B rs1540615 - PLPPR3 Q6T4P5 VAR_038545 p.Ala690Val LB/B rs3746136 - PLPPR4 Q7Z2D5 VAR_050618 p.Gln2Lys LB/B rs712896 - PLPPR4 Q7Z2D5 VAR_050619 p.Ala32Val LB/B rs35285687 - PLPPR4 Q7Z2D5 VAR_085196 p.Arg345Thr LB/B rs138327459 - PLPPR4 Q7Z2D5 VAR_088174 p.Thr299Ser US - - PLS1 Q14651 VAR_048660 p.Ile146Met LB/B rs35710125 - PLS1 Q14651 VAR_048661 p.Ser216Leu LB/B rs35435507 - PLS1 Q14651 VAR_083821 p.Phe128Ser LP/P - Deafness, autosomal dominant, 76 (DFNA76) [MIM:618787] PLS1 Q14651 VAR_083822 p.Leu238Arg LP/P - Deafness, autosomal dominant, 76 (DFNA76) [MIM:618787] PLS1 Q14651 VAR_083823 p.Glu269Lys LP/P - Deafness, autosomal dominant, 76 (DFNA76) [MIM:618787] PLS1 Q14651 VAR_083824 p.Leu363Phe LP/P - Deafness, autosomal dominant, 76 (DFNA76) [MIM:618787] PLS3 P13797 VAR_035462 p.Asp488Ala US - A breast cancer sample PLSCR1 O15162 VAR_034388 p.His262Tyr LB/B rs343320 - PLSCR3 Q9NRY6 VAR_015568 p.Val293Ile LB/B rs3744549 - PLSCR4 Q9NRQ2 VAR_011315 p.Asn34Ser LB/B rs3762685 - PLSCR4 Q9NRQ2 VAR_011316 p.Ile155Val LB/B rs1061409 - PLSCR5 A0PG75 VAR_057700 p.Arg110Ser LB/B rs12107687 - PLTP P55058 VAR_012073 p.Phe444Leu LB/B rs1804161 - PLTP P55058 VAR_012074 p.Thr487Lys LB/B rs1056929 - PLTP P55058 VAR_017020 p.Arg282Gln LB/B rs56126980 - PLTP P55058 VAR_017021 p.Arg372His LB/B rs144710772 - PLTP P55058 VAR_017022 p.Arg380Trp LB/B rs6065903 - PLTP P55058 VAR_018879 p.Ser124Tyr LB/B rs11569636 - PLTP P55058 VAR_018880 p.Met425Ile LB/B rs11569675 - PLVAP Q9BX97 VAR_081738 p.Leu34Pro LP/P rs1568378665 Diarrhea 10, protein-losing enteropathy type (DIAR10) [MIM:618183] PLXDC1 Q8IUK5 VAR_064050 p.Arg462His LB/B rs75117355 - PLXDC2 Q6UX71 VAR_026292 p.Val396Ile LB/B rs3817405 - PLXDC2 Q6UX71 VAR_026293 p.Ile458Val LB/B rs2778979 - PLXNA1 Q9UIW2 VAR_087499 p.Leu119Pro US - Dworschak-Punetha neurodevelopmental syndrome (DWOPNED) [MIM:619955] PLXNA1 Q9UIW2 VAR_087501 p.Cys816Arg LP/P - Dworschak-Punetha neurodevelopmental syndrome (DWOPNED) [MIM:619955] PLXNA1 Q9UIW2 VAR_087502 p.Arg881Trp US - Dworschak-Punetha neurodevelopmental syndrome (DWOPNED) [MIM:619955] PLXNA1 Q9UIW2 VAR_087503 p.Arg1077His US - Dworschak-Punetha neurodevelopmental syndrome (DWOPNED) [MIM:619955] PLXNA1 Q9UIW2 VAR_087504 p.Arg1185Gln US rs375833812 - PLXNA1 Q9UIW2 VAR_087505 p.Arg1495Trp US rs2079185551 - PLXNA1 Q9UIW2 VAR_087506 p.Arg1748Cys LB/B rs2079215968 - PLXNA2 O75051 VAR_056722 p.Arg5Gln LB/B rs2782948 - PLXNA2 O75051 VAR_058201 p.Glu369Gly LB/B rs4844658 - PLXNA2 O75051 VAR_059554 p.Gln57Arg LB/B rs11119014 - PLXNA2 O75051 VAR_059555 p.Ala267Thr LB/B rs3748735 - PLXNA2 O75051 VAR_059556 p.Ala805Gly LB/B rs17011882 - PLXNA2 O75051 VAR_059557 p.Ala1443Thr LB/B rs12240051 - PLXNA3 P51805 VAR_050595 p.Gly384Ser LB/B rs34585333 - PLXNA3 P51805 VAR_050596 p.Gly413Ser LB/B rs36115591 - PLXNA3 P51805 VAR_050597 p.Glu863Asp LB/B rs5945430 - PLXNA3 P51805 VAR_083660 p.Val1238Met LB/B rs200880623 - PLXNB1 O43157 VAR_036074 p.Asp1891Val US - A breast cancer sample PLXNB1 O43157 VAR_050598 p.Arg389Trp LB/B rs34050056 - PLXNB1 O43157 VAR_050599 p.Ser753Leu LB/B rs35592743 - PLXNB2 O15031 VAR_050600 p.Lys318Glu LB/B rs28379706 - PLXNB2 O15031 VAR_061537 p.Ile823Val LB/B rs11547731 - PLXNB3 Q9ULL4 VAR_019681 p.Val598Ile LB/B rs2266879 - PLXNB3 Q9ULL4 VAR_019682 p.Met1535Thr LB/B rs5987155 - PLXNB3 Q9ULL4 VAR_050601 p.Ala126Thr LB/B rs34360382 - PLXNB3 Q9ULL4 VAR_061538 p.Glu1156Asp LB/B rs6643791 - PLXNB3 Q9ULL4 VAR_068807 p.Glu1651Ala LB/B rs34762690 - PLXNB3 Q9ULL4 VAR_079495 p.Arg550Gln LB/B rs782213788 - PLXNC1 O60486 VAR_050602 p.Glu1499Lys LB/B rs11107500 - PLXND1 Q9Y4D7 VAR_022144 p.Met870Val LB/B rs2255703 - PLXND1 Q9Y4D7 VAR_056723 p.Pro617Ser LB/B rs2285372 - PLXND1 Q9Y4D7 VAR_056724 p.Leu1412Val LB/B rs2625973 - PLXND1 Q9Y4D7 VAR_059558 p.His894Arg LB/B rs2625962 - PLXND1 Q9Y4D7 VAR_061539 p.Ser1542Asn LB/B rs2713625 - PLXND1 Q9Y4D7 VAR_088299 p.Ser218Cys US - Congenital heart defects, multiple types, 9 (CHTD9) [MIM:620294] PLXND1 Q9Y4D7 VAR_088300 p.Ile911Met LP/P - Congenital heart defects, multiple types, 9 (CHTD9) [MIM:620294] PLXND1 Q9Y4D7 VAR_088301 p.Arg1299Cys US rs2085164025 Congenital heart defects, multiple types, 9 (CHTD9) [MIM:620294] PLXND1 Q9Y4D7 VAR_088302 p.Ile1775Phe LP/P - Congenital heart defects, multiple types, 9 (CHTD9) [MIM:620294] PM20D1 Q6GTS8 VAR_039380 p.His33Tyr LB/B rs11540014 - PM20D1 Q6GTS8 VAR_039381 p.Ile149Val LB/B rs1891460 - PM20D1 Q6GTS8 VAR_039382 p.Arg153Trp LB/B rs1104899 - PM20D1 Q6GTS8 VAR_039383 p.Ile237Thr LB/B rs7518979 - PM20D1 Q6GTS8 VAR_039384 p.Ser258Cys LB/B rs11581214 - PM20D1 Q6GTS8 VAR_039385 p.Gly346Arg LB/B rs11240573 - PM20D1 Q6GTS8 VAR_039386 p.Ile380Thr LB/B rs1361754 - PM20D2 Q8IYS1 VAR_032081 p.Lys333Glu LB/B rs10944433 - PMEL P40967 VAR_050606 p.Pro320His LB/B rs2071024 - PMEL P40967 VAR_050607 p.Glu370Asp LB/B rs17118154 - PMEPA1 Q969W9 VAR_062154 p.Glu128Asp LB/B rs41314918 - PMF1 Q6P1K2 VAR_034147 p.Gln75Arg LB/B rs1052053 - PMF1 Q6P1K2 VAR_034148 p.Met137Ile LB/B rs1052067 - PMFBP1 Q8TBY8 VAR_035042 p.Ala172Thr LB/B rs217180 - PMFBP1 Q8TBY8 VAR_035043 p.Glu193Lys LB/B rs35370634 - PMFBP1 Q8TBY8 VAR_035044 p.Arg381Leu LB/B rs35781168 - PMFBP1 Q8TBY8 VAR_035045 p.Lys645Thr LB/B rs34832584 - PMFBP1 Q8TBY8 VAR_056974 p.Thr650Lys LB/B rs34832584 - PMFBP1 Q8TBY8 VAR_069056 p.Lys913Asn LB/B rs16973716 - PML P29590 VAR_052090 p.Phe645Leu LB/B rs5742915 - PMM2 O15305 VAR_006093 p.Val44Ala LP/P rs104894534 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006094 p.Asp65Tyr LP/P rs104894527 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006095 p.Asn101Lys LP/P rs769839273 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006096 p.Tyr106Cys LP/P rs387906824 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006097 p.Ala108Val LP/P rs200503569 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006098 p.Pro113Leu LP/P rs80338700 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006099 p.Gly117Arg LP/P rs104894530 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006100 p.Phe119Leu LP/P rs80338701 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006101 p.Arg123Gln LP/P rs141498002 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006102 p.Val129Met LP/P rs104894525 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006103 p.Pro131Ala LP/P rs1274547742 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006104 p.Ile132Thr LP/P rs80338702 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006105 p.Arg141His LP/P rs28936415 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006106 p.Arg162Trp LP/P rs104894526 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006107 p.Gly175Arg LP/P rs941830625 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006108 p.Asp188Gly LP/P rs80338704 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006109 p.Gly208Ala LP/P rs398123309 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006110 p.Asn216Ile LP/P rs78290141 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006111 p.Asp223Glu LP/P rs104894531 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006112 p.Tyr229Ser LP/P rs398123311 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006113 p.Val231Met LP/P rs80338707 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006114 p.Ala233Thr US - Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006115 p.Thr237Met LP/P rs80338708 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006116 p.Arg238Pro LP/P rs151319324 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_009232 p.Glu139Lys LP/P rs80338703 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_012344 p.Leu104Val LP/P rs770458492 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022133 p.Gln37Leu LB/B rs2304472 - PMM2 O15305 VAR_022134 p.Met212Val LB/B rs3743808 - PMM2 O15305 VAR_022469 p.Cys9Tyr LP/P rs104894532 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022470 p.Phe11Cys LP/P - Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022471 p.Gly15Glu LP/P - Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022472 p.Pro20Ser LP/P rs949271895 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022473 p.Leu32Arg LP/P rs104894533 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022474 p.Gln37His LP/P - Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022475 p.Gly42Arg LB/B rs755402538 - PMM2 O15305 VAR_022476 p.Tyr64Cys LP/P - Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022477 p.Val67Met LP/P rs1318611010 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022478 p.Pro69Ser LP/P rs769648248 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022479 p.Tyr76Cys LP/P rs1440183322 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022480 p.Glu93Ala LP/P - Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022481 p.Cys103Phe LP/P - Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022482 p.Ile120Thr LP/P rs368582085 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022483 p.Ile132Phe LP/P rs753632453 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022484 p.Ile132Asn LP/P - Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022485 p.Arg141Cys LP/P rs746610168 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022486 p.Phe144Leu LP/P rs150719105 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022487 p.Asp148Asn LP/P rs148032587 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022488 p.Glu151Gly LP/P - Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022489 p.Ile153Thr LP/P rs150577656 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022490 p.Phe157Ser LP/P rs190521996 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022491 p.Phe172Val LP/P - Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022492 p.Gly176Val LP/P - Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022493 p.Gln177His LP/P - Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022494 p.Phe183Ser LP/P rs780581250 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022495 p.Asp185Gly LP/P rs1386173214 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022496 p.Cys192Gly LP/P - Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022497 p.His195Arg LP/P rs1596489887 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022498 p.Glu197Ala LB/B rs34258285 - PMM2 O15305 VAR_022499 p.Phe206Ser LP/P - Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022500 p.Gly214Ser LP/P rs1555453238 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022501 p.Asn216Ser LP/P rs78290141 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022502 p.Asp217Glu LP/P rs752614554 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022503 p.His218Leu LP/P rs80338705 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022504 p.Asp223Asn LP/P rs201960869 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022505 p.Thr226Ser LP/P rs80338706 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022506 p.Gly228Cys LP/P rs558826439 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022507 p.Gly228Arg LP/P rs558826439 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022508 p.Thr237Arg LP/P rs80338708 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022509 p.Arg238Gly LP/P - Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022510 p.Cys241Ser LP/P rs80338709 Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022563 p.Val44Leu LP/P - Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] PMP2 P02689 VAR_081897 p.Ile43Asn LP/P rs879253869 Charcot-Marie-Tooth disease, demyelinating, 1G (CMT1G) [MIM:618279] PMP2 P02689 VAR_081898 p.Thr51Pro LP/P rs1563518390 Charcot-Marie-Tooth disease, demyelinating, 1G (CMT1G) [MIM:618279] PMP2 P02689 VAR_081899 p.Ile52Thr LP/P rs1563518388 Charcot-Marie-Tooth disease, demyelinating, 1G (CMT1G) [MIM:618279] PMP22 Q01453 VAR_006359 p.His12Gln LP/P rs104894622 Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006360 p.Leu16Pro LP/P rs104894617 Charcot-Marie-Tooth disease, demyelinating, 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_006360 p.Leu16Pro LP/P rs104894617 Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006361 p.Leu19Pro LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006362 p.Met69Lys LP/P rs104894620 Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006363 p.Ser72Leu LP/P rs104894621 Charcot-Marie-Tooth disease, demyelinating, 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_006363 p.Ser72Leu LP/P rs104894621 Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006364 p.Ser72Pro LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006365 p.Ser72Trp LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006366 p.Ser76Ile LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006367 p.Ser79Cys LP/P rs104894618 Charcot-Marie-Tooth disease, demyelinating, 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_006368 p.Ser79Pro LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006369 p.Leu80Pro LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006371 p.Gly100Glu LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006372 p.Gly100Arg LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006373 p.Leu105Arg LP/P - Charcot-Marie-Tooth disease, demyelinating, 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_006373 p.Leu105Arg LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006374 p.Gly107Val LP/P - Charcot-Marie-Tooth disease, demyelinating, 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_006375 p.Thr118Met LP/P rs104894619 Charcot-Marie-Tooth disease, demyelinating, 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_006376 p.Ile137Val LB/B rs755551524 - PMP22 Q01453 VAR_006377 p.Leu147Arg LP/P - Charcot-Marie-Tooth disease, demyelinating, 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_006378 p.Gly150Cys LP/P rs104894624 Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006379 p.Gly150Asp LP/P rs879253954 Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_009659 p.Val30Met LP/P rs377335295 Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500] PMP22 Q01453 VAR_009660 p.Asp37Val LP/P rs104894627 Charcot-Marie-Tooth disease, demyelinating, 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_009661 p.Ala67Pro LP/P rs104894623 Charcot-Marie-Tooth disease, demyelinating, 1E (CMT1E) [MIM:118300] PMP22 Q01453 VAR_009662 p.Gly93Arg LP/P rs778693173 Charcot-Marie-Tooth disease, demyelinating, 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_009663 p.Arg157Gly LB/B rs28936682 - PMP22 Q01453 VAR_009664 p.Arg157Trp LP/P rs28936682 Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_029960 p.Ser22Phe LP/P rs104894625 Charcot-Marie-Tooth disease, demyelinating, 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_029960 p.Ser22Phe LP/P rs104894625 Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500] PMP22 Q01453 VAR_029961 p.Thr23Arg LP/P rs906563423 Charcot-Marie-Tooth disease, demyelinating, 1E (CMT1E) [MIM:118300] PMP22 Q01453 VAR_029963 p.Trp28Arg LP/P rs104894626 Charcot-Marie-Tooth disease, demyelinating, 1E (CMT1E) [MIM:118300] PMP22 Q01453 VAR_029964 p.Val65Phe LP/P - Charcot-Marie-Tooth disease, demyelinating, 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_029965 p.Ala67Thr LP/P rs104894623 Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500] PMP22 Q01453 VAR_029966 p.Leu71Pro LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_029967 p.Leu80Arg LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_029968 p.Cys109Arg LP/P - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_029970 p.Ser149Arg LP/P rs775019409 Dejerine-Sottas syndrome (DSS) [MIM:145900] PMPCA Q10713 VAR_076237 p.Ser96Leu LP/P rs869025292 Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2) [MIM:213200] PMPCA Q10713 VAR_076238 p.Val256Met LP/P rs746549806 Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2) [MIM:213200] PMPCA Q10713 VAR_076239 p.Ala377Thr LP/P rs753611141 Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2) [MIM:213200] PMPCA Q10713 VAR_076240 p.Gly515Arg LP/P rs869025293 Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2) [MIM:213200] PMPCB O75439 VAR_051572 p.Glu396Asp LB/B rs3087615 - PMPCB O75439 VAR_080804 p.Arg175Cys LP/P rs145596167 Multiple mitochondrial dysfunctions syndrome 6 (MMDS6) [MIM:617954] PMPCB O75439 VAR_080805 p.Arg175His LP/P rs200188353 Multiple mitochondrial dysfunctions syndrome 6 (MMDS6) [MIM:617954] PMPCB O75439 VAR_080806 p.Val177Gly LP/P rs1436866272 Multiple mitochondrial dysfunctions syndrome 6 (MMDS6) [MIM:617954] PMPCB O75439 VAR_080807 p.Ala201Pro LP/P rs146343535 Multiple mitochondrial dysfunctions syndrome 6 (MMDS6) [MIM:617954] PMPCB O75439 VAR_080808 p.Ile422Thr LP/P rs1461200360 Multiple mitochondrial dysfunctions syndrome 6 (MMDS6) [MIM:617954] PMS1 P54277 VAR_012967 p.Met394Thr LB/B rs1145231 - PMS1 P54277 VAR_012968 p.Gly501Arg LB/B rs1145232 - PMS1 P54277 VAR_014877 p.Arg202Lys LB/B rs2066459 - PMS1 P54277 VAR_014878 p.Asn632Ser LB/B rs2066456 - PMS1 P54277 VAR_014879 p.Glu720Asp LB/B rs2066455 - PMS1 P54277 VAR_014880 p.Tyr793His LB/B rs1145234 - PMS1 P54277 VAR_019166 p.Glu27Gln LB/B rs5742973 - PMS2 P54278 VAR_004469 p.Arg20Gln LB/B rs10254120 - PMS2 P54278 VAR_012969 p.His479Gln US rs63750685 Lynch syndrome 4 (LYNCH4) [MIM:614337] PMS2 P54278 VAR_012969 p.His479Gln US rs63750685 Mismatch repair cancer syndrome 4 (MMRCS4) [MIM:619101] PMS2 P54278 VAR_012970 p.Thr485Lys LB/B rs1805323 - PMS2 P54278 VAR_012971 p.Thr511Ala LB/B rs2228007 - PMS2 P54278 VAR_012972 p.Thr597Ser LB/B rs1805318 - PMS2 P54278 VAR_012973 p.Met622Ile US rs1805324 Lynch syndrome 4 (LYNCH4) [MIM:614337] PMS2 P54278 VAR_012974 p.Glu705Lys LP/P rs267608161 Lynch syndrome 4 (LYNCH4) [MIM:614337] PMS2 P54278 VAR_012974 p.Glu705Lys LP/P rs267608161 Mismatch repair cancer syndrome 4 (MMRCS4) [MIM:619101] PMS2 P54278 VAR_016133 p.Thr277Lys LB/B rs1805322 - PMS2 P54278 VAR_016134 p.Pro470Ser LB/B rs1805321 - PMS2 P54278 VAR_016135 p.Asn775Ser LB/B rs17420802 - PMS2 P54278 VAR_024541 p.Lys541Glu LB/B rs2228006 - PMS2 P54278 VAR_066838 p.Ser46Ile LP/P rs121434629 Lynch syndrome 4 (LYNCH4) [MIM:614337] PMS2 P54278 VAR_066838 p.Ser46Ile LP/P rs121434629 Mismatch repair cancer syndrome 4 (MMRCS4) [MIM:619101] PMS2 P54278 VAR_078517 p.Ile18Val LB/B rs63750123 - PMS2 P54278 VAR_078518 p.Ser46Asn LP/P rs121434629 Lynch syndrome 4 (LYNCH4) [MIM:614337] PMS2 P54278 VAR_078519 p.Asp60Glu LB/B rs200313585 - PMS2 P54278 VAR_078520 p.Ile66Thr US rs769554577 Mismatch repair cancer syndrome 4 (MMRCS4) [MIM:619101] PMS2 P54278 VAR_078521 p.Arg107Trp LP/P rs188006077 Mismatch repair cancer syndrome 4 (MMRCS4) [MIM:619101] PMS2 P54278 VAR_078522 p.Cys115Gly LP/P - Mismatch repair cancer syndrome 4 (MMRCS4) [MIM:619101] PMS2 P54278 VAR_078523 p.Ala182Thr US rs587779341 Lynch syndrome 4 (LYNCH4) [MIM:614337] PMS2 P54278 VAR_078524 p.Gln205Pro US rs587779342 Lynch syndrome 4 (LYNCH4) [MIM:614337] PMS2 P54278 VAR_078524 p.Gln205Pro US rs587779342 Mismatch repair cancer syndrome 4 (MMRCS4) [MIM:619101] PMS2 P54278 VAR_078525 p.Gly207Glu US rs374704824 Lynch syndrome 4 (LYNCH4) [MIM:614337] PMS2 P54278 VAR_078526 p.Leu263Val US rs587779345 Lynch syndrome 4 (LYNCH4) [MIM:614337] PMS2 P54278 VAR_078526 p.Leu263Val US rs587779345 Mismatch repair cancer syndrome 4 (MMRCS4) [MIM:619101] PMS2 P54278 VAR_078527 p.Asn307Lys US rs587779346 Mismatch repair cancer syndrome 4 (MMRCS4) [MIM:619101] PMS2 P54278 VAR_078528 p.Pro437Ser US rs200726484 Mismatch repair cancer syndrome 4 (MMRCS4) [MIM:619101] PMS2 P54278 VAR_078529 p.Ala488Val US rs587779328 Mismatch repair cancer syndrome 4 (MMRCS4) [MIM:619101] PMS2 P54278 VAR_078530 p.Glu504Gln US rs368516768 Mismatch repair cancer syndrome 4 (MMRCS4) [MIM:619101] PMS2 P54278 VAR_078531 p.Arg563Leu LB/B rs63750668 - PMS2 P54278 VAR_078532 p.Leu571Ile LB/B rs63750055 - PMS2 P54278 VAR_078533 p.Leu585Ile US rs63750947 Lynch syndrome 4 (LYNCH4) [MIM:614337] PMS2 P54278 VAR_078533 p.Leu585Ile US rs63750947 Mismatch repair cancer syndrome 4 (MMRCS4) [MIM:619101] PMS2 P54278 VAR_078534 p.Glu663Ala US rs587779332 Lynch syndrome 4 (LYNCH4) [MIM:614337] PMS2 P54278 VAR_078535 p.Gly750Asp US rs587779337 Lynch syndrome 4 (LYNCH4) [MIM:614337] PMS2 P54278 VAR_078536 p.Met797Arg US rs267608152 Lynch syndrome 4 (LYNCH4) [MIM:614337] PMS2 P54278 VAR_078537 p.Ser815Leu LP/P rs587779338 Mismatch repair cancer syndrome 4 (MMRCS4) [MIM:619101] PMS2 P54278 VAR_078538 p.Cys843Tyr LP/P rs267608174 Lynch syndrome 4 (LYNCH4) [MIM:614337] PMS2 P54278 VAR_078539 p.Gly857Ala LB/B rs1802683 - PMS2 P54278 VAR_079012 p.Ala423Thr LB/B rs587778619 - PMS2 P54278 VAR_079013 p.Thr511Met LB/B rs74902811 - PMS2 P54278 VAR_079014 p.Thr511Pro LB/B rs2228007 - PMS2 P54278 VAR_079817 p.Ser36Arg LB/B rs587781918 - PMS2 P54278 VAR_079818 p.Val475Glu LB/B rs587781827 - PMS2 P54278 VAR_079819 p.Asp699His LB/B rs587781317 - PMS2 P54278 VAR_079820 p.Asp792Asn LB/B rs587781265 - PMS2 P54278 VAR_079821 p.Ile853Met LB/B rs371673459 - PMS2 P54278 VAR_087080 p.Gly232Glu LB/B rs201811667 - PMS2 P54278 VAR_087081 p.Ser238Arg LB/B rs151251082 - PMS2 P54278 VAR_087082 p.Asn335Ser LB/B rs200513014 - PMS2 P54278 VAR_087083 p.Gly779Arg LB/B rs587780053 - PMS2 P54278 VAR_087084 p.Arg799Gln LB/B rs587780055 - PMS2 P54278 VAR_087085 p.Val816Glu LB/B rs1060503140 - PMVK Q15126 VAR_051283 p.Val125Met LB/B rs16836525 - PMVK Q15126 VAR_075051 p.Lys69Glu US - Porokeratosis 1, multiple types (POROK1) [MIM:175800] PNCK Q6P2M8 VAR_040598 p.Gln262His LB/B rs56060609 - PNKD Q8N490 VAR_034844 p.Ala7Val LP/P rs121434512 Dystonia 8 (DYT8) [MIM:118800] PNKD Q8N490 VAR_034845 p.Ala9Val LP/P rs121434511 Dystonia 8 (DYT8) [MIM:118800] PNKP Q96T60 VAR_019260 p.Pro20Ser LB/B rs3739168 - PNKP Q96T60 VAR_019261 p.Ala63Val LB/B rs3739173 - PNKP Q96T60 VAR_019262 p.Arg180Ser LB/B rs3739185 - PNKP Q96T60 VAR_019263 p.Tyr196Asn LB/B rs3739186 - PNKP Q96T60 VAR_019264 p.Val478Gly LB/B rs3739206 - PNKP Q96T60 VAR_063835 p.Leu176Phe LP/P rs267606957 Microcephaly, seizures, and developmental delay (MCSZ) [MIM:613402] PNKP Q96T60 VAR_063836 p.Glu326Lys LP/P rs267606956 Microcephaly, seizures, and developmental delay (MCSZ) [MIM:613402] PNKP Q96T60 VAR_073369 p.Gly375Trp LP/P rs786203983 Ataxia-oculomotor apraxia 4 (AOA4) [MIM:616267] PNKP Q96T60 VAR_076537 p.Arg462Pro LP/P rs376854895 Microcephaly, seizures, and developmental delay (MCSZ) [MIM:613402] PNLDC1 Q8NA58 VAR_085807 p.Pro84Ser LP/P - Spermatogenic failure 57 (SPGF57) [MIM:619528] PNLDC1 Q8NA58 VAR_085808 p.Met259Thr US rs141903829 Spermatogenic failure 57 (SPGF57) [MIM:619528] PNLIP P16233 VAR_078977 p.Thr221Met LP/P rs746000327 Pancreatic lipase deficiency (PNLIPD) [MIM:614338] PNLIPRP1 P54315 VAR_014915 p.Leu461Pro LB/B rs1049125 - PNLIPRP1 P54315 VAR_022082 p.Ala271Val LB/B rs2305205 - PNLIPRP1 P54315 VAR_022659 p.Glu414Asp LB/B rs2305204 - PNLIPRP1 P54315 VAR_036379 p.Ser129Cys US - A breast cancer sample PNLIPRP1 P54315 VAR_049820 p.Asn61Asp LB/B rs11197744 - PNLIPRP2 P54317 VAR_080185 p.Ile361Val LB/B rs4751996 - PNLIPRP3 Q17RR3 VAR_032141 p.Leu2Phe LB/B rs10885929 - PNLIPRP3 Q17RR3 VAR_032142 p.Phe332Leu LB/B rs7077408 - PNLIPRP3 Q17RR3 VAR_032143 p.Phe450Tyr LB/B rs2116286 - PNLIPRP3 Q17RR3 VAR_060285 p.Val381Ile LB/B rs10736251 - PNLIPRP3 Q17RR3 VAR_060286 p.Arg382Gly LB/B rs1897519 - PNMA1 Q8ND90 VAR_053595 p.Met54Val LB/B rs35129712 - PNMA1 Q8ND90 VAR_053596 p.Arg215Pro LB/B rs34413931 - PNMA2 Q9UL42 VAR_053597 p.Glu186Lys LB/B rs2233701 - PNMA3 Q9UL41 VAR_057701 p.Gly382Ser LB/B rs36042591 - PNMA3 Q9UL41 VAR_057702 p.Arg386Gln LB/B rs35603712 - PNMA5 Q96PV4 VAR_037164 p.Asn107His LB/B rs3810655 - PNMA5 Q96PV4 VAR_037165 p.Arg349Trp LB/B rs3810654 - PNMA8A Q86V59 VAR_039935 p.Ser80Thr LB/B rs12610254 - PNMA8A Q86V59 VAR_039936 p.Cys97Tyr LB/B rs7248888 - PNMT P11086 VAR_024547 p.Trp276Arg LB/B rs5643 - PNMT P11086 VAR_029351 p.Asn9Ser LB/B rs11569781 - PNMT P11086 VAR_036829 p.Thr98Ala LB/B rs36060376 - PNMT P11086 VAR_036830 p.Arg112Cys LB/B rs34530498 - PNMT P11086 VAR_036831 p.Ala175Thr LB/B rs34341496 - PNMT P11086 VAR_037611 p.Ser188Cys LB/B rs5639 - PNMT P11086 VAR_037612 p.Leu211His LB/B rs5640 - PNMT P11086 VAR_037613 p.Leu217Gln LB/B rs5641 - PNMT P11086 VAR_037614 p.Arg254His LB/B rs5642 - PNN Q9H307 VAR_023368 p.Ser671Gly LB/B rs13021 - PNO1 Q9NRX1 VAR_029814 p.Arg11Gly LB/B rs2044693 - PNO1 Q9NRX1 VAR_029815 p.Gly71Ala LB/B rs7590838 - PNP P00491 VAR_002243 p.Gly51Ser LB/B rs1049564 - PNP P00491 VAR_002244 p.Glu89Lys LP/P rs104894453 Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] PNP P00491 VAR_002245 p.Asp128Gly LP/P rs104894450 Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] PNP P00491 VAR_002246 p.Ala174Pro LP/P rs104894454 Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] PNP P00491 VAR_002247 p.Arg234Pro LP/P rs104894451 Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] PNP P00491 VAR_010653 p.Tyr192Cys LP/P rs104894452 Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] PNPLA1 Q8N8W4 VAR_032929 p.Pro423His LB/B rs12199580 - PNPLA1 Q8N8W4 VAR_032930 p.Thr490Met LB/B rs12197079 - PNPLA1 Q8N8W4 VAR_032931 p.Ser522Pro LB/B rs4713956 - PNPLA1 Q8N8W4 VAR_069566 p.Ala59Val LP/P rs1561853847 Ichthyosis, congenital, autosomal recessive 10 (ARCI10) [MIM:615024] PNPLA1 Q8N8W4 VAR_084012 p.Ala34Thr LP/P rs1182312612 Ichthyosis, congenital, autosomal recessive 10 (ARCI10) [MIM:615024] PNPLA2 Q96AD5 VAR_032995 p.Pro195Leu LP/P rs121918259 Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717] PNPLA2 Q96AD5 VAR_032996 p.Leu219Phe LB/B rs140612115 - PNPLA2 Q96AD5 VAR_032997 p.Asn252Lys LB/B rs140201358 - PNPLA2 Q96AD5 VAR_032998 p.Leu481Pro LB/B rs1138693 - PNPLA3 Q9NST1 VAR_015845 p.Cys99Gly LB/B rs2076213 - PNPLA3 Q9NST1 VAR_015846 p.Gly115Cys LB/B rs2076212 - PNPLA3 Q9NST1 VAR_015847 p.Lys434Glu LB/B rs2294918 - PNPLA3 Q9NST1 VAR_019961 p.Ile148Met LB/B rs738409 - PNPLA3 Q9NST1 VAR_053814 p.Thr216Pro LB/B rs35726887 - PNPLA3 Q9NST1 VAR_053815 p.Ser453Ile LB/B rs6006460 - PNPLA3 Q9NST1 VAR_077543 p.Ala76Thr US rs746140741 Non-alcoholic fatty liver disease 1 (NAFLD1) [MIM:613282] PNPLA3 Q9NST1 VAR_077544 p.Ala104Val US - Non-alcoholic fatty liver disease 1 (NAFLD1) [MIM:613282] PNPLA3 Q9NST1 VAR_077545 p.Thr200Met US rs190477302 Non-alcoholic fatty liver disease 1 (NAFLD1) [MIM:613282] PNPLA4 P41247 VAR_028068 p.Val48Gly LB/B rs17856615 - PNPLA4 P41247 VAR_028069 p.Asp134Gly LB/B rs17851825 - PNPLA4 P41247 VAR_028070 p.Arg187Gln LB/B rs2231793 - PNPLA4 P41247 VAR_053816 p.Val113Ile LB/B rs2231791 - PNPLA5 Q7Z6Z6 VAR_032932 p.Leu140Phe LB/B rs2071883 - PNPLA5 Q7Z6Z6 VAR_032933 p.Thr200Ile LB/B rs10428037 - PNPLA5 Q7Z6Z6 VAR_032934 p.Trp286Arg LB/B rs739231 - PNPLA6 Q8IY17 VAR_032949 p.Ala412Pro LB/B rs17854645 - PNPLA6 Q8IY17 VAR_032950 p.Lys1033Arg LB/B rs17854647 - PNPLA6 Q8IY17 VAR_044409 p.Arg938His LP/P rs121434416 Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020] PNPLA6 Q8IY17 VAR_044410 p.Met1060Val LP/P rs121434415 Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020] PNPLA6 Q8IY17 VAR_071091 p.Val263Ile LP/P rs587777184 Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020] PNPLA6 Q8IY17 VAR_071092 p.Gly578Trp LP/P rs587777615 Boucher-Neuhauser syndrome (BNHS) [MIM:215470] PNPLA6 Q8IY17 VAR_071093 p.Gly840Glu LP/P rs587777185 Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020] PNPLA6 Q8IY17 VAR_071094 p.Ser1045Leu LP/P rs541098659 Boucher-Neuhauser syndrome (BNHS) [MIM:215470] PNPLA6 Q8IY17 VAR_071095 p.Thr1058Ile LP/P rs587777181 Boucher-Neuhauser syndrome (BNHS) [MIM:215470] PNPLA6 Q8IY17 VAR_071096 p.Phe1066Ser LP/P rs587777183 Boucher-Neuhauser syndrome (BNHS) [MIM:215470] PNPLA6 Q8IY17 VAR_071097 p.Val1100Gly US rs754429587 - PNPLA6 Q8IY17 VAR_071098 p.Val1110Met LP/P rs587777182 Boucher-Neuhauser syndrome (BNHS) [MIM:215470] PNPLA6 Q8IY17 VAR_071099 p.Pro1122Leu LP/P rs748506175 Boucher-Neuhauser syndrome (BNHS) [MIM:215470] PNPLA6 Q8IY17 VAR_071100 p.Arg1362Gly US rs1204274988 - PNPLA6 Q8IY17 VAR_073409 p.Gly726Arg LP/P - Laurence-Moon syndrome (LNMS) [MIM:245800] PNPLA6 Q8IY17 VAR_073410 p.Arg1099Gln LP/P rs786201037 Oliver-McFarlane syndrome (OMCS) [MIM:275400] PNPLA6 Q8IY17 VAR_073411 p.Gly1129Arg LP/P rs773955314 Oliver-McFarlane syndrome (OMCS) [MIM:275400] PNPLA6 Q8IY17 VAR_073412 p.Arg1147Cys LP/P rs587777854 Boucher-Neuhauser syndrome (BNHS) [MIM:215470] PNPLA6 Q8IY17 VAR_073413 p.Ser1175Cys LP/P rs1555751592 Boucher-Neuhauser syndrome (BNHS) [MIM:215470] PNPLA6 Q8IY17 VAR_073414 p.Gly1176Ser LP/P rs142422525 Oliver-McFarlane syndrome (OMCS) [MIM:275400] PNPLA6 Q8IY17 VAR_073415 p.Val1215Ala LP/P rs1211079280 Oliver-McFarlane syndrome (OMCS) [MIM:275400] PNPLA6 Q8IY17 VAR_073416 p.Arg1359Trp LP/P rs374434303 Boucher-Neuhauser syndrome (BNHS) [MIM:215470] PNPLA7 Q6ZV29 VAR_033060 p.Arg323Gln LB/B rs11137410 - PNPLA7 Q6ZV29 VAR_033061 p.Gln364Glu LB/B rs3750378 - PNPLA7 Q6ZV29 VAR_033062 p.Glu368Asp LB/B rs3750379 - PNPLA7 Q6ZV29 VAR_033063 p.Ala803Val LB/B rs1891630 - PNPLA7 Q6ZV29 VAR_033064 p.Val824Met LB/B rs34938599 - PNPLA7 Q6ZV29 VAR_033065 p.Pro908Leu LB/B rs3812499 - PNPLA7 Q6ZV29 VAR_033066 p.Leu993Met LB/B rs35177111 - PNPLA7 Q6ZV29 VAR_055696 p.Gly286Ser LB/B rs2298171 - PNPLA7 Q6ZV29 VAR_055697 p.Asp1050Asn LB/B rs4962237 - PNPLA7 Q6ZV29 VAR_060409 p.Gly387Ser LB/B rs11791683 - PNPLA7 Q6ZV29 VAR_061139 p.Arg236His LB/B rs12788 - PNPO Q9NVS9 VAR_029358 p.Glu50Lys LB/B rs549477447 - PNPO Q9NVS9 VAR_029359 p.Arg116Gln LB/B rs17679445 - PNPO Q9NVS9 VAR_029360 p.Arg229Trp LP/P rs104894629 Pyridoxine-5'-phosphate oxidase deficiency (PNPOD) [MIM:610090] PNPO Q9NVS9 VAR_078229 p.Arg225His LP/P rs550423482 Pyridoxine-5'-phosphate oxidase deficiency (PNPOD) [MIM:610090] PNPO Q9NVS9 VAR_078643 p.Arg229Gln LP/P rs773450573 Pyridoxine-5'-phosphate oxidase deficiency (PNPOD) [MIM:610090] PNPT1 Q8TCS8 VAR_027787 p.Ile121Val LB/B rs782572 - PNPT1 Q8TCS8 VAR_027788 p.Asn590Asp LB/B rs7594497 - PNPT1 Q8TCS8 VAR_050610 p.Glu230Gln LB/B rs34928857 - PNPT1 Q8TCS8 VAR_069248 p.Gln387Arg LP/P rs397514598 Combined oxidative phosphorylation deficiency 13 (COXPD13) [MIM:614932] PNPT1 Q8TCS8 VAR_069249 p.Glu475Gly LP/P rs397514599 Deafness, autosomal recessive, 70, with or without adult-onset neurodegeneration (DFNB70) [MIM:614934] PNRC1 Q12796 VAR_051284 p.Pro252Leu LB/B rs2231277 - POC1A Q8NBT0 VAR_057627 p.Gly79Ser LB/B rs35249554 - POC1A Q8NBT0 VAR_057628 p.Gln348His LB/B rs35898691 - POC1A Q8NBT0 VAR_068884 p.Leu171Pro LP/P rs397514488 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) [MIM:614813] POC1B Q8TC44 VAR_071917 p.Arg106Pro LP/P rs76216585 Cone-rod dystrophy 20 (CORD20) [MIM:615973] POC5 Q8NA72 VAR_031324 p.His36Arg LB/B rs2307111 - POC5 Q8NA72 VAR_031325 p.Ile85Thr LB/B rs17672542 - POC5 Q8NA72 VAR_050778 p.Ala446Thr LB/B rs34678567 - PODN Q7Z5L7 VAR_029497 p.Thr444Met LB/B rs12567021 - PODN Q7Z5L7 VAR_029498 p.Val472Ala LB/B rs1288389 - PODNL1 Q6PEZ8 VAR_037151 p.Arg44Trp LB/B rs3745467 - PODXL O00592 VAR_012236 p.Thr60Arg LB/B - - PODXL O00592 VAR_012237 p.Ser194Leu LB/B rs12670788 - PODXL O00592 VAR_055237 p.Gly112Ser LB/B rs3735035 - PODXL O00592 VAR_055238 p.Val358Ile LB/B rs3212298 - PODXL O00592 VAR_060090 p.Pro298Ala LB/B rs35893129 - PODXL O00592 VAR_062136 p.Thr126Pro LB/B rs55698400 - PODXL2 Q9NZ53 VAR_053599 p.Val456Ala LB/B rs34117815 - POF1B Q8WVV4 VAR_028753 p.Pro207Ser LB/B rs363766 - POF1B Q8WVV4 VAR_028754 p.Cys239Ser LB/B rs147563033 - POF1B Q8WVV4 VAR_028755 p.Glu296Ala LB/B rs363751 - POF1B Q8WVV4 VAR_028756 p.Met323Val LB/B rs363775 - POF1B Q8WVV4 VAR_028757 p.Arg329Gln LP/P rs75398746 Premature ovarian failure 2B (POF2B) [MIM:300604] POF1B Q8WVV4 VAR_028758 p.Met349Leu LB/B rs363774 - POF1B Q8WVV4 VAR_028759 p.Gln434Lys LB/B rs139385491 - POF1B Q8WVV4 VAR_028760 p.Cys444Tyr LB/B rs768162591 - POFUT1 Q9H488 VAR_049231 p.Leu322Phe LB/B rs17268666 - POFUT1 Q9H488 VAR_049232 p.Asp348Asn LB/B rs35259534 - POGLUT1 Q8NBL1 VAR_027041 p.Lys75Arg LB/B rs11556605 - POGLUT1 Q8NBL1 VAR_027042 p.Pro229Thr LB/B rs17852785 - POGLUT1 Q8NBL1 VAR_077954 p.Gly170Glu LP/P rs1454300079 Dowling-Degos disease 4 (DDD4) [MIM:615696] POGLUT1 Q8NBL1 VAR_077956 p.Asp233Glu LP/P rs550944082 Muscular dystrophy, limb-girdle, autosomal recessive 21 (LGMDR21) [MIM:617232] POGLUT1 Q8NBL1 VAR_077957 p.Cys286Tyr LP/P - Dowling-Degos disease 4 (DDD4) [MIM:615696] POGLUT2 Q6UW63 VAR_027080 p.Ile114Val LB/B rs1047740 - POGLUT3 Q7Z4H8 VAR_027086 p.Arg319Leu LB/B rs17853654 - POGZ Q7Z3K3 VAR_031476 p.Glu1365Asp LB/B rs35198305 - POGZ Q7Z3K3 VAR_073179 p.Glu1040Lys US - - POLA1 P09884 VAR_048877 p.Tyr740His LB/B rs2230927 - POLA1 P09884 VAR_083194 p.Ile79Ser LP/P rs1569271378 Van Esch-O'Driscoll syndrome (VEODS) [MIM:301030] POLA1 P09884 VAR_083195 p.Gly110Arg LP/P rs1569271892 Van Esch-O'Driscoll syndrome (VEODS) [MIM:301030] POLA1 P09884 VAR_083196 p.Pro1381Leu LP/P rs1569350993 Van Esch-O'Driscoll syndrome (VEODS) [MIM:301030] POLA2 Q14181 VAR_033896 p.Gly583Arg LB/B rs487989 - POLA2 Q14181 VAR_033897 p.Ser588Asn LB/B rs7123885 - POLB P06746 VAR_018881 p.Pro242Arg LB/B rs3136797 - POLB P06746 VAR_088253 p.Leu22Pro US - - POLB P06746 VAR_088254 p.Tyr39Cys US - - POLB P06746 VAR_088255 p.Gly118Val LB/B rs764967314 - POLB P06746 VAR_088256 p.Arg137Gln LB/B rs12678588 - POLB P06746 VAR_088257 p.Arg149Ile LB/B rs779188078 - POLB P06746 VAR_088258 p.Asp160Asn US - - POLB P06746 VAR_088259 p.Cys239Arg US - - POLB P06746 VAR_088260 p.Lys289Met US - - POLB P06746 VAR_088261 p.Asn294Asp US - - POLB P06746 VAR_088262 p.Glu295Lys US - - POLD1 P28340 VAR_016146 p.Arg30Trp LB/B rs3218772 - POLD1 P28340 VAR_019340 p.Arg19His LB/B rs3218773 - POLD1 P28340 VAR_019341 p.Arg119His LB/B rs1726801 - POLD1 P28340 VAR_019342 p.Ser173Asn LB/B rs1726803 - POLD1 P28340 VAR_019343 p.Arg177His LB/B rs3218750 - POLD1 P28340 VAR_019344 p.Arg849His LB/B rs3218775 - POLD1 P28340 VAR_019345 p.Arg1086Gln LB/B rs3219457 - POLD1 P28340 VAR_048878 p.Arg5Trp LB/B rs9282830 - POLD1 P28340 VAR_048879 p.Gly21Cys LB/B rs9282831 - POLD1 P28340 VAR_048880 p.Pro347Leu LB/B rs2230243 - POLD1 P28340 VAR_069333 p.Ala145Asp US - - POLD1 P28340 VAR_069334 p.Gln461His US - - POLD1 P28340 VAR_069335 p.Ser478Asn LB/B rs397514632 - POLD1 P28340 VAR_069336 p.Pro787Leu LB/B rs199783227 - POLD1 P28340 VAR_069337 p.Arg808His LB/B rs771700024 - POLD1 P28340 VAR_069338 p.Ala864Thr LB/B rs765437818 - POLD1 P28340 VAR_071966 p.Leu474Pro LP/P rs587777627 Colorectal cancer 10 (CRCS10) [MIM:612591] POLD2 P49005 VAR_014885 p.Asn303Ser LB/B rs3087366 - POLD3 Q15054 VAR_064745 p.Gly194Val US - - POLD3 Q15054 VAR_064746 p.Met195Leu US - - POLD4 Q9HCU8 VAR_022269 p.Arg39Pro LB/B rs28364240 - POLD4 Q9HCU8 VAR_057526 p.Gly59Arg LB/B rs34136263 - POLE Q07864 VAR_020276 p.Ala252Val LB/B rs5744751 - POLE Q07864 VAR_020277 p.Asn336Ser LB/B rs5744760 - POLE Q07864 VAR_020278 p.Phe695Ile LB/B rs5744799 - POLE Q07864 VAR_020279 p.Tyr1395Cys LB/B rs5744933 - POLE Q07864 VAR_020280 p.Asn1396Ser LB/B rs5744934 - POLE Q07864 VAR_020281 p.Glu1399Gln LB/B rs5744935 - POLE Q07864 VAR_020282 p.Ala2040Val LB/B rs5745021 - POLE Q07864 VAR_020283 p.Arg2165His LB/B rs5745068 - POLE Q07864 VAR_028429 p.Pro99Leu LB/B rs5744739 - POLE Q07864 VAR_028430 p.Arg260Gln LB/B rs5744752 - POLE Q07864 VAR_028431 p.Arg1382Cys LB/B rs5744904 - POLE Q07864 VAR_028432 p.Glu1577Ala LB/B rs5744948 - POLE Q07864 VAR_028433 p.Ala1712Val LB/B rs5744950 - POLE Q07864 VAR_028434 p.Lys1857Arg LB/B rs5744971 - POLE Q07864 VAR_028435 p.Cys1935Tyr LB/B rs5744991 - POLE Q07864 VAR_048881 p.Glu2140Lys LB/B rs5745066 - POLE Q07864 VAR_048882 p.Arg2159Cys LB/B rs5745067 - POLE Q07864 VAR_061138 p.Ala31Ser LB/B rs34047482 - POLE Q07864 VAR_069339 p.Ala189Thr US - - POLE Q07864 VAR_069340 p.Arg231His LB/B rs1060500835 - POLE Q07864 VAR_069341 p.Pro286His LB/B rs1057519943 - POLE Q07864 VAR_069342 p.Phe367Ser US - - POLE Q07864 VAR_069343 p.Val411Leu US rs1057519945 Colorectal cancer 12 (CRCS12) [MIM:615083] POLE Q07864 VAR_069344 p.Leu424Val LP/P rs483352909 Colorectal cancer 12 (CRCS12) [MIM:615083] POLE Q07864 VAR_069345 p.Pro436Arg LB/B rs864622766 - POLE Q07864 VAR_069346 p.Ser459Phe US - - POLE Q07864 VAR_069347 p.Arg762Trp LB/B rs1064794759 - POLE Q07864 VAR_069348 p.Lys777Asn US - - POLE Q07864 VAR_069349 p.Lys1008Asn US - - POLE Q07864 VAR_069350 p.Leu1255Val US - - POLE Q07864 VAR_069351 p.Val1368Met LB/B rs770558983 - POLE Q07864 VAR_069352 p.Pro1421Ser LB/B - - POLE Q07864 VAR_069353 p.Asp1752Asn LB/B rs1335665224 - POLE Q07864 VAR_069354 p.Asp2013Asn LB/B - - POLE Q07864 VAR_069355 p.Ala2056Thr LB/B rs58916399 - POLE Q07864 VAR_069356 p.Ala2213Val US - - POLE Q07864 VAR_077349 p.Pro286Arg LB/B rs1057519943 - POLE Q07864 VAR_077350 p.Tyr458Phe US - Colorectal cancer 12 (CRCS12) [MIM:615083] POLE Q07864 VAR_077351 p.Ile1925Thr US - - POLE Q07864 VAR_081997 p.Ala1007Pro US rs747692201 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency (IMAGEI) [MIM:618336] POLE2 P56282 VAR_044379 p.His84Pro LB/B rs34857719 - POLE2 P56282 VAR_044380 p.Leu456Val LB/B rs34574266 - POLE2 P56282 VAR_044381 p.Pro514Leu LB/B rs45515094 - POLE3 Q9NRF9 VAR_023464 p.Thr83Ala LB/B rs36023979 - POLE3 Q9NRF9 VAR_023465 p.Glu135Asp LB/B rs35933626 - POLE3 Q9NRF9 VAR_057527 p.Asp126Ala LB/B rs34852828 - POLE4 Q9NR33 VAR_028050 p.Gly17Val LB/B rs12366 - POLG P54098 VAR_012153 p.Arg3Pro LP/P rs121918045 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_012153 p.Arg3Pro LP/P rs121918045 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_012154 p.Leu304Arg LP/P rs121918044 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_012154 p.Leu304Arg LP/P rs121918044 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_012155 p.Ala467Thr LP/P rs113994095 Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_012155 p.Ala467Thr LP/P rs113994095 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_012155 p.Ala467Thr LP/P rs113994095 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_012155 p.Ala467Thr LP/P rs113994095 Spinocerebellar ataxia with epilepsy (SCAE) [MIM:607459] POLG P54098 VAR_012156 p.Tyr955Cys LP/P rs113994099 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640] POLG P54098 VAR_012156 p.Tyr955Cys LP/P rs113994099 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_012156 p.Tyr955Cys LP/P rs113994099 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_014904 p.Pro18Ser LB/B rs3087373 - POLG P54098 VAR_014905 p.Pro324Ser LB/B rs2307437 - POLG P54098 VAR_014906 p.Arg546Cys LB/B rs2307447 - POLG P54098 VAR_014907 p.Glu662Lys LB/B rs2307450 - POLG P54098 VAR_014908 p.Arg1142Trp LB/B rs2307442 - POLG P54098 VAR_014909 p.Glu1143Gly LB/B rs2307441 - POLG P54098 VAR_014910 p.Arg1146Cys US rs2307440 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_014911 p.Gln1236His LB/B rs3087374 - POLG P54098 VAR_019267 p.Arg193Gln LB/B rs3176162 - POLG P54098 VAR_023663 p.Arg227Trp LP/P rs121918056 Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662] POLG P54098 VAR_023663 p.Arg227Trp LP/P rs121918056 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023664 p.Thr251Ile LP/P rs113994094 Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_023664 p.Thr251Ile LP/P rs113994094 Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662] POLG P54098 VAR_023664 p.Thr251Ile LP/P rs113994094 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023665 p.Arg309Leu LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023666 p.Trp312Arg LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023667 p.Gly431Val LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023668 p.Asn468Asp LP/P rs145843073 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023669 p.Gln497His LP/P rs121918052 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_023669 p.Gln497His LP/P rs121918052 Spinocerebellar ataxia with epilepsy (SCAE) [MIM:607459] POLG P54098 VAR_023670 p.Arg579Trp LP/P rs556925652 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023671 p.Pro587Leu LP/P rs113994096 Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_023671 p.Pro587Leu LP/P rs113994096 Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662] POLG P54098 VAR_023671 p.Pro587Leu LP/P rs113994096 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023672 p.Arg627Trp LP/P rs121918046 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_023673 p.Trp748Ser LP/P rs113994097 Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_023673 p.Trp748Ser LP/P rs113994097 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_023673 p.Trp748Ser LP/P rs113994097 Spinocerebellar ataxia with epilepsy (SCAE) [MIM:607459] POLG P54098 VAR_023674 p.Tyr831Cys US rs41549716 Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_023674 p.Tyr831Cys US rs41549716 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640] POLG P54098 VAR_023675 p.Gly848Ser LP/P rs113994098 Leigh syndrome (LS) [MIM:256000] POLG P54098 VAR_023675 p.Gly848Ser LP/P rs113994098 Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_023675 p.Gly848Ser LP/P rs113994098 Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662] POLG P54098 VAR_023675 p.Gly848Ser LP/P rs113994098 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023676 p.Asn864Ser LP/P rs121918050 Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662] POLG P54098 VAR_023677 p.Ala889Thr LP/P rs763393580 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023678 p.Gly923Asp LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640] POLG P54098 VAR_023679 p.His932Tyr LP/P rs121918048 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023679 p.His932Tyr LP/P rs121918048 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_023680 p.Arg943His LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640] POLG P54098 VAR_023681 p.Arg953Cys LP/P rs11546842 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640] POLG P54098 VAR_023682 p.Ala957Ser LP/P rs121918051 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640] POLG P54098 VAR_023683 p.Arg1047Gln LP/P rs768028281 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023684 p.Gly1051Arg LP/P rs121918049 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_023685 p.Gly1076Val LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023686 p.Arg1096Cys LP/P rs201732356 Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_023686 p.Arg1096Cys LP/P rs201732356 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023687 p.Ser1104Cys LP/P rs1010372555 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023688 p.Ala1105Thr LP/P rs753410045 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023689 p.Val1106Ile LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_023690 p.Ser1176Leu LP/P rs776031396 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640] POLG P54098 VAR_058870 p.Arg232Gly LP/P - Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058871 p.Arg232His LP/P rs113994093 Leigh syndrome (LS) [MIM:256000] POLG P54098 VAR_058872 p.Leu244Pro LP/P - Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058873 p.Gly268Ala LP/P rs61752784 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_058875 p.Gln308His LP/P rs745539599 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_058876 p.Gly380Asp LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_058877 p.Leu463Phe LB/B rs150828914 - POLG P54098 VAR_058878 p.Ser511Asn LP/P rs121918055 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640] POLG P54098 VAR_058879 p.Gly517Val LP/P rs61752783 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_058880 p.Arg562Gln LP/P rs781168350 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_058881 p.Arg574Trp LP/P rs774474723 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_058882 p.Met603Leu LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_058883 p.Arg627Gln LP/P rs375305567 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_058884 p.Pro648Arg LP/P rs796052906 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_058885 p.Gly737Arg LP/P rs121918054 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_058886 p.Ala767Asp LP/P - Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058887 p.Arg807Cys LP/P rs769827124 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_058888 p.Arg807Pro LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_058889 p.Arg853Trp LP/P rs121918053 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_058890 p.Gln879His LP/P - Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058891 p.Thr885Ser LP/P - Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058892 p.Thr914Pro LP/P rs139590686 Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058893 p.Ala957Pro LP/P - Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058894 p.Arg1096His LP/P rs368435864 Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058895 p.His1110Tyr LP/P - Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058896 p.His1134Arg LP/P - Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058897 p.Asp1184Asn LP/P rs1131691575 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_058898 p.Lys1191Asn LP/P rs1085307741 Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_065092 p.Glu1136Lys LP/P rs56047213 Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_065119 p.Asp1186His LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640] POLG P54098 VAR_088657 p.Arg275Gln US rs1555453950 - POLG P54098 VAR_088658 p.His277Leu US rs138929605 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_088659 p.Gly303Arg LP/P rs749799663 Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_088660 p.Ser305Arg LP/P rs769410130 Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_088688 p.Arg852Cys LP/P - Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_088689 p.Arg943Cys LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] POLG P54098 VAR_088690 p.Leu966Arg LP/P - Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] POLG2 Q9UHN1 VAR_029364 p.Gly451Glu LP/P rs104894632 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4) [MIM:610131] POLG2 Q9UHN1 VAR_032028 p.Ala169Thr LB/B rs1427463 - POLG2 Q9UHN1 VAR_032029 p.Gly416Ala LB/B rs17850455 - POLG2 Q9UHN1 VAR_078773 p.Arg182Trp LP/P rs886037843 Mitochondrial DNA depletion syndrome 16, hepatic type (MTDPS16) [MIM:618528] POLG2 Q9UHN1 VAR_086017 p.Asp433Tyr LP/P - Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type (MTDPS16B) [MIM:619425] POLH Q9Y253 VAR_021227 p.Arg111His LP/P rs758423288 Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH Q9Y253 VAR_021228 p.Thr122Pro LP/P rs1561900151 Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH Q9Y253 VAR_021229 p.Gly209Val LB/B rs2307456 - POLH Q9Y253 VAR_021230 p.Gly263Val LP/P rs1413703153 Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH Q9Y253 VAR_021231 p.Arg334Trp LB/B rs9333548 - POLH Q9Y253 VAR_021232 p.Arg361Ser LP/P - Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH Q9Y253 VAR_021233 p.Thr478Met LB/B rs9296419 - POLH Q9Y253 VAR_021234 p.Lys535Glu LP/P rs56307355 Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH Q9Y253 VAR_021235 p.Leu584Pro LB/B rs9333554 - POLH Q9Y253 VAR_021236 p.Lys589Thr LP/P rs121908565 Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH Q9Y253 VAR_021237 p.Met595Val LB/B rs9333555 - POLH Q9Y253 VAR_021238 p.Met647Leu LB/B rs6941583 - POLH Q9Y253 VAR_036220 p.Gly153Asp US rs367709714 A breast cancer sample POLH Q9Y253 VAR_070836 p.Arg93Pro LP/P rs756931657 Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH Q9Y253 VAR_070837 p.Val266Asp LP/P - Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH Q9Y253 VAR_070838 p.Gly295Arg LP/P - Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH Q9Y253 VAR_070839 p.Thr692Ala LP/P rs199562456 Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLI Q9UNA4 VAR_021239 p.Arg96Gly LB/B rs3218778 - POLI Q9UNA4 VAR_021240 p.Ile261Met LB/B rs3218784 - POLI Q9UNA4 VAR_021241 p.Glu276Lys LB/B rs3218783 - POLI Q9UNA4 VAR_021242 p.His474Arg LB/B rs3730823 - POLI Q9UNA4 VAR_021243 p.Phe532Ser LB/B rs3218786 - POLI Q9UNA4 VAR_021244 p.Cys560Arg LB/B rs3218787 - POLI Q9UNA4 VAR_021245 p.Ala731Thr LB/B rs8305 - POLK Q9UBT6 VAR_021246 p.Thr595Ile LB/B rs5744713 - POLK Q9UBT6 VAR_021247 p.Ile612Val LB/B rs3822587 - POLK Q9UBT6 VAR_021248 p.Ser832Asn LB/B rs5744716 - POLK Q9UBT6 VAR_048886 p.Ser423Arg LB/B rs35257416 - POLK Q9UBT6 VAR_048887 p.Ser635Asn LB/B rs35501530 - POLL Q9UGP5 VAR_020268 p.Thr221Pro LB/B rs3730463 - POLL Q9UGP5 VAR_020269 p.Arg438Trp LB/B rs3730477 - POLM Q9NP87 VAR_022287 p.Glu107Asp LB/B rs28382635 - POLM Q9NP87 VAR_022288 p.Gly220Ala LB/B rs28382644 - POLM Q9NP87 VAR_022289 p.Val246Phe LB/B rs28382653 - POLM Q9NP87 VAR_022290 p.Leu484Phe LB/B rs28382661 - POLN Q7Z5Q5 VAR_025647 p.Gln121His LB/B rs2353552 - POLN Q7Z5Q5 VAR_025648 p.Arg201Gly LB/B rs35884361 - POLN Q7Z5Q5 VAR_025649 p.Met310Leu LB/B rs10018786 - POLN Q7Z5Q5 VAR_025650 p.Pro315Ser LB/B rs11725880 - POLN Q7Z5Q5 VAR_025651 p.Gly336Ser LB/B rs10011549 - POLN Q7Z5Q5 VAR_025652 p.Arg425Cys LB/B rs9328764 - POLN Q7Z5Q5 VAR_025653 p.Ser502Gly LB/B rs34574483 - POLN Q7Z5Q5 VAR_025654 p.Phe711Leu LB/B rs34554757 - POLQ O75417 VAR_055707 p.Pro1056Leu LB/B rs34778629 - POLR1A O95602 VAR_047493 p.Pro150Ala LB/B rs4832242 - POLR1A O95602 VAR_047494 p.Gln349Glu LB/B rs17026866 - POLR1A O95602 VAR_047495 p.Lys364Glu LB/B rs35239368 - POLR1A O95602 VAR_047496 p.Ser396Asn LB/B rs35443467 - POLR1A O95602 VAR_047497 p.Ile815Val LB/B rs34302587 - POLR1A O95602 VAR_047498 p.Ala1141Thr LB/B rs34892520 - POLR1A O95602 VAR_047499 p.Ile1608Met LB/B rs35093541 - POLR1A O95602 VAR_073964 p.Glu593Gln LP/P rs794729674 Acrofacial dysostosis, Cincinnati type (AFDCIN) [MIM:616462] POLR1A O95602 VAR_073965 p.Val1299Phe LP/P rs751377255 Acrofacial dysostosis, Cincinnati type (AFDCIN) [MIM:616462] POLR1B Q9H9Y6 VAR_034476 p.Ser295Leu LB/B rs1545133 - POLR1B Q9H9Y6 VAR_071195 p.His887Arg LB/B - - POLR1B Q9H9Y6 VAR_084557 p.Ser682Arg US rs1684443250 Treacher Collins syndrome 4 (TCS4) [MIM:618939] POLR1B Q9H9Y6 VAR_084558 p.Arg1003Cys LP/P rs1684813071 Treacher Collins syndrome 4 (TCS4) [MIM:618939] POLR1B Q9H9Y6 VAR_084559 p.Arg1003Ser LP/P - Treacher Collins syndrome 4 (TCS4) [MIM:618939] POLR1C O15160 VAR_064899 p.Arg279Gln LP/P rs191582628 Treacher Collins syndrome 3 (TCS3) [MIM:248390] POLR1C O15160 VAR_064900 p.Arg279Trp LP/P rs141156009 Treacher Collins syndrome 3 (TCS3) [MIM:248390] POLR1C O15160 VAR_074655 p.Thr26Ile LP/P rs796052126 Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] POLR1C O15160 VAR_074656 p.Asn32Ile LP/P rs796052124 Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] POLR1C O15160 VAR_074657 p.Met65Val LP/P rs141471029 Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] POLR1C O15160 VAR_074658 p.Asn74Ser LP/P rs371802902 Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] POLR1C O15160 VAR_074659 p.Val94Ala LP/P rs1305006253 Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] POLR1C O15160 VAR_074660 p.Arg109His LP/P rs796052127 Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] POLR1C O15160 VAR_074661 p.Gly132Asp LP/P rs201320592 Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] POLR1C O15160 VAR_074662 p.Cys146Arg LP/P rs796052125 Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] POLR1C O15160 VAR_074663 p.Arg191Gln LP/P rs373046018 Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] POLR1C O15160 VAR_074664 p.Ile262Thr LP/P rs751006626 Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] POLR1C O15160 VAR_074666 p.Glu324Lys LP/P rs1582184344 Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] POLR1D P0DPB6 VAR_064892 p.Glu47Lys LP/P rs767196650 Treacher Collins syndrome 2 (TCS2) [MIM:613717] POLR1D P0DPB6 VAR_064893 p.Thr50Ile LP/P - Treacher Collins syndrome 2 (TCS2) [MIM:613717] POLR1D P0DPB6 VAR_064894 p.Leu51Arg LP/P rs1593275448 Treacher Collins syndrome 2 (TCS2) [MIM:613717] POLR1D P0DPB6 VAR_064895 p.Gly52Glu LP/P - Treacher Collins syndrome 2 (TCS2) [MIM:613717] POLR1D P0DPB6 VAR_064896 p.Arg56Cys LP/P rs1014369151 Treacher Collins syndrome 2 (TCS2) [MIM:613717] POLR1D P0DPB6 VAR_064897 p.Leu82Ser LP/P - Treacher Collins syndrome 2 (TCS2) [MIM:613717] POLR1D P0DPB6 VAR_064898 p.Gly99Ser LP/P - Treacher Collins syndrome 2 (TCS2) [MIM:613717] POLR1E Q9GZS1 VAR_022372 p.Asp192His LB/B rs7863488 - POLR1E Q9GZS1 VAR_022373 p.Val356Met LB/B rs7867180 - POLR1E Q9GZS1 VAR_022374 p.Arg383Lys LB/B rs10814571 - POLR1G O15446 VAR_051875 p.Lys259Thr LB/B rs735482 - POLR1G O15446 VAR_051876 p.Thr282Ala LB/B rs3212989 - POLR1G O15446 VAR_051877 p.Lys373Glu LB/B rs762562 - POLR1G O15446 VAR_051878 p.Asp394Asn LB/B rs2336219 - POLR1G O15446 VAR_051879 p.Lys503Gln LB/B rs3212986 - POLR1G O15446 VAR_051880 p.Gln504Lys LB/B rs3212986 - POLR1H Q9P1U0 VAR_052287 p.Gln14His LB/B rs17187658 - POLR2A P24928 VAR_051872 p.Arg292Cys LB/B rs2229198 - POLR2A P24928 VAR_082988 p.Pro371Leu US - Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) [MIM:618603] POLR2A P24928 VAR_082989 p.Ile457Thr US - Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) [MIM:618603] POLR2A P24928 VAR_082990 p.Asn531Ser US - Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) [MIM:618603] POLR2A P24928 VAR_082994 p.Thr736Met LP/P - Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) [MIM:618603] POLR2A P24928 VAR_082996 p.Met769Thr US - Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) [MIM:618603] POLR2A P24928 VAR_082997 p.Ile848Thr US - Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) [MIM:618603] POLR2A P24928 VAR_082998 p.Tyr1109His US - Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) [MIM:618603] POLR2A P24928 VAR_082999 p.Leu1124Pro LP/P - Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) [MIM:618603] POLR2A P24928 VAR_083001 p.Asn1251Ser US - Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) [MIM:618603] POLR2A P24928 VAR_083002 p.Arg1603His US - Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) [MIM:618603] POLR2E P19388 VAR_028259 p.Ser44Phe LB/B rs12459404 - POLR2F P61218 VAR_036571 p.Tyr60Asn US - A breast cancer sample POLR2J2 Q9GZM3 VAR_070807 p.Lys28Asn LB/B rs62483491 - POLR2M Q6EEV4 VAR_054029 p.Ala127Pro LB/B rs11858659 - POLR3A O14802 VAR_051873 p.Arg582Leu LB/B rs34588967 - POLR3A O14802 VAR_051874 p.Lys713Asn LB/B rs35354908 - POLR3A O14802 VAR_066516 p.Asp372Asn LP/P rs267608673 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] POLR3A O14802 VAR_066517 p.Phe558Leu LP/P rs267608668 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] POLR3A O14802 VAR_066518 p.Ser636Tyr LP/P rs267608676 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] POLR3A O14802 VAR_066519 p.Gly672Glu LP/P rs267608670 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] POLR3A O14802 VAR_066520 p.Cys724Tyr LP/P rs267608679 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] POLR3A O14802 VAR_066521 p.Asn775Ile LP/P rs267608672 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] POLR3A O14802 VAR_066522 p.Met852Val LP/P rs267608671 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] POLR3A O14802 VAR_066523 p.Arg1005Cys LP/P rs267608682 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] POLR3A O14802 VAR_067004 p.Ile897Asn LP/P rs267608681 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] POLR3A O14802 VAR_072338 p.Pro91Leu LP/P rs1375717376 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] POLR3A O14802 VAR_072339 p.Trp310Cys LP/P rs1217230904 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] POLR3A O14802 VAR_072340 p.Ala387Gly LP/P rs1307896663 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] POLR3A O14802 VAR_072341 p.Ser602Arg LP/P rs762708292 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] POLR3A O14802 VAR_072342 p.Ile804Thr LP/P - Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] POLR3A O14802 VAR_072343 p.Glu1261Lys LP/P rs371703979 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] POLR3A O14802 VAR_082003 p.Gly903Arg US rs1399429058 Wiedemann-Rautenstrauch syndrome (WDRTS) [MIM:264090] POLR3A O14802 VAR_082004 p.Arg1069Gln US rs778985686 Wiedemann-Rautenstrauch syndrome (WDRTS) [MIM:264090] POLR3A O14802 VAR_082005 p.Lys1131Arg US rs138305578 Wiedemann-Rautenstrauch syndrome (WDRTS) [MIM:264090] POLR3A O14802 VAR_082006 p.Asp1292Asn US rs757209071 Wiedemann-Rautenstrauch syndrome (WDRTS) [MIM:264090] POLR3A O14802 VAR_082007 p.Gly1335Arg US rs768222183 Wiedemann-Rautenstrauch syndrome (WDRTS) [MIM:264090] POLR3B Q9NW08 VAR_057255 p.Thr740Ala LB/B rs17038460 - POLR3B Q9NW08 VAR_067005 p.Thr503Lys LP/P rs267608683 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381] POLR3B Q9NW08 VAR_067006 p.Val523Glu LP/P rs138249161 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381] POLR3B Q9NW08 VAR_067008 p.Arg768His LP/P rs267608687 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381] POLR3B Q9NW08 VAR_067009 p.Asp926Glu LP/P rs267608689 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381] POLR3B Q9NW08 VAR_072344 p.Leu104Phe LP/P - Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381] POLR3B Q9NW08 VAR_072345 p.Ser268Gly LP/P - Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381] POLR3B Q9NW08 VAR_072346 p.Arg442Cys LP/P rs1442212683 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381] POLR3B Q9NW08 VAR_072347 p.Cys527Arg LP/P - Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381] POLR3B Q9NW08 VAR_086912 p.Glu363Lys LP/P - Charcot-Marie-Tooth disease, demyelinating, 1I (CMT1I) [MIM:619742] POLR3B Q9NW08 VAR_086913 p.Ala365Val LP/P rs2037218302 Charcot-Marie-Tooth disease, demyelinating, 1I (CMT1I) [MIM:619742] POLR3B Q9NW08 VAR_086914 p.Asp375Val LP/P rs2037451945 Charcot-Marie-Tooth disease, demyelinating, 1I (CMT1I) [MIM:619742] POLR3B Q9NW08 VAR_086915 p.Leu426Ser LP/P rs2037490138 Charcot-Marie-Tooth disease, demyelinating, 1I (CMT1I) [MIM:619742] POLR3B Q9NW08 VAR_086916 p.Thr462Arg LP/P rs2037492289 Charcot-Marie-Tooth disease, demyelinating, 1I (CMT1I) [MIM:619742] POLR3B Q9NW08 VAR_086917 p.Arg1046His LP/P rs2038648611 Charcot-Marie-Tooth disease, demyelinating, 1I (CMT1I) [MIM:619742] POLR3C Q9BUI4 VAR_019083 p.His243Arg LB/B rs1044697 - POLR3E Q9NVU0 VAR_024623 p.Ser46Ala LB/B rs2347 - POLR3F Q9H1D9 VAR_087291 p.Arg50Trp US - Immunodeficiency 101, varicella zoster virus-specific (IMD101) [MIM:619872] POLR3K Q9Y2Y1 VAR_027918 p.Ala24Ser LB/B rs183360 - POLR3K Q9Y2Y1 VAR_085543 p.Arg41Trp LP/P rs1432006875 Leukodystrophy, hypomyelinating, 21 (HLD21) [MIM:619310] POLRMT O00411 VAR_019427 p.Glu555Ala LB/B rs2238549 - POLRMT O00411 VAR_086919 p.His250Asp LP/P rs137994680 Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] POLRMT O00411 VAR_086920 p.Pro566Ser LP/P rs41545023 Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] POLRMT O00411 VAR_086921 p.Ser611Phe LP/P - Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] POLRMT O00411 VAR_086922 p.Phe641Leu LP/P - Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] POLRMT O00411 VAR_086924 p.Pro810Ser US - Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] POLRMT O00411 VAR_086925 p.Asp870Asn US - Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] POLRMT O00411 VAR_086927 p.Arg1013Cys LP/P - Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] POLRMT O00411 VAR_086928 p.Ser1193Phe LP/P rs142850300 Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] POM121 Q96HA1 VAR_045905 p.Ala1215Gly LB/B rs3177261 - POM121C A8CG34 VAR_045906 p.Thr379Ala LB/B rs427206 - POM121C A8CG34 VAR_045907 p.Gln1165Leu LB/B rs365436 - POM121L12 Q8N7R1 VAR_046180 p.Pro21Thr LB/B rs10229800 - POM121L12 Q8N7R1 VAR_046181 p.Gln64Glu LB/B rs11238247 - POM121L12 Q8N7R1 VAR_046182 p.Gly188Glu LB/B rs1689291 - POMC P01189 VAR_010699 p.Ser7Thr LB/B - - POMC P01189 VAR_010700 p.Ser9Leu LB/B rs139750421 - POMC P01189 VAR_010701 p.Arg236Gly LB/B rs28932472 - POMC P01189 VAR_010715 p.Asp106Asn LB/B rs750136455 - POMC P01189 VAR_010716 p.Glu214Gly LB/B rs80326661 - POMC P01189 VAR_012201 p.Arg236Gln LB/B - - POMC P01189 VAR_029314 p.Pro132Ala LB/B rs8192606 - POMC P01189 VAR_029762 p.Pro62Leu LB/B rs28932471 - POMGNT1 Q8WZA1 VAR_023101 p.Glu223Lys LP/P rs386834036 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023102 p.Arg265His US rs386834010 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023103 p.Cys269Tyr LP/P rs386834037 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023104 p.Arg311Gln LP/P rs193919336 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023104 p.Arg311Gln LP/P rs193919336 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3 (MDDGB3) [MIM:613151] POMGNT1 Q8WZA1 VAR_023105 p.Trp425Ser LP/P rs386834011 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023106 p.Arg442Cys LP/P rs28940869 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023107 p.Cys490Tyr LP/P rs267606960 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023107 p.Cys490Tyr LP/P rs267606960 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3 (MDDGB3) [MIM:613151] POMGNT1 Q8WZA1 VAR_023108 p.Pro493Arg LP/P rs28942068 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023109 p.Ser550Asn LP/P rs193919335 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023110 p.Met623Val LB/B rs6659553 - POMGNT1 Q8WZA1 VAR_030645 p.Glu250Val LB/B rs17855359 - POMGNT1 Q8WZA1 VAR_030646 p.Val504Ile LB/B rs17102066 - POMGNT1 Q8WZA1 VAR_065021 p.Thr176Pro LP/P rs386834030 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_065022 p.Ser198Arg LP/P rs386834032 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_065023 p.Arg367His LP/P rs762972459 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_065024 p.Asp427His LP/P - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_065025 p.Asp556Asn LP/P rs74374973 Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3) [MIM:613157] POMGNT1 Q8WZA1 VAR_065026 p.Arg605Pro LP/P rs267606962 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3 (MDDGB3) [MIM:613151] POMGNT1 Q8WZA1 VAR_076524 p.Glu156Lys LP/P rs886037947 Retinitis pigmentosa 76 (RP76) [MIM:617123] POMGNT1 Q8WZA1 VAR_076525 p.Ile287Ser LP/P rs200863680 Retinitis pigmentosa 76 (RP76) [MIM:617123] POMGNT1 Q8WZA1 VAR_076526 p.Gly502Ala LP/P rs886037948 Retinitis pigmentosa 76 (RP76) [MIM:617123] POMGNT1 Q8WZA1 VAR_077054 p.Leu120Arg LP/P rs886037949 Retinitis pigmentosa 76 (RP76) [MIM:617123] POMGNT2 Q8NAT1 VAR_068967 p.Arg158His LP/P rs387907300 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 (MDDGA8) [MIM:614830] POMGNT2 Q8NAT1 VAR_081560 p.Met165Thr LP/P - Muscular dystrophy-dystroglycanopathy limb-girdle C8 (MDDGC8) [MIM:618135] POMGNT2 Q8NAT1 VAR_081562 p.Pro253Leu LP/P rs374042455 Muscular dystrophy-dystroglycanopathy limb-girdle C8 (MDDGC8) [MIM:618135] POMK Q9H5K3 VAR_041372 p.Ser48Pro LB/B rs34466747 - POMK Q9H5K3 VAR_041373 p.Tyr140Phe LB/B rs34750053 - POMK Q9H5K3 VAR_041374 p.Val254Met LB/B rs34715198 - POMK Q9H5K3 VAR_041375 p.Met301Thr LB/B rs33920561 - POMK Q9H5K3 VAR_041376 p.Met342Ile US - A lung small cell carcinoma sample POMK Q9H5K3 VAR_069625 p.Leu137Arg LP/P rs397509385 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249] POMK Q9H5K3 VAR_069626 p.Gln258Arg LP/P rs397509386 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249] POMK Q9H5K3 VAR_072560 p.Val302Asp LP/P rs199756983 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249] POMT1 Q9Y6A1 VAR_015734 p.Gly76Arg LP/P rs28941782 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670] POMT1 Q9Y6A1 VAR_015735 p.Val428Asp LP/P - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670] POMT1 Q9Y6A1 VAR_022661 p.Ala200Pro LP/P rs119462982 Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1) [MIM:609308] POMT1 Q9Y6A1 VAR_026697 p.Ser537Arg LP/P rs150367385 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670] POMT1 Q9Y6A1 VAR_026697 p.Ser537Arg LP/P rs150367385 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1 (MDDGB1) [MIM:613155] POMT1 Q9Y6A1 VAR_034389 p.Gln251Trp LB/B rs386738991 - POMT1 Q9Y6A1 VAR_034390 p.Gln251Arg LB/B rs2296949 - POMT1 Q9Y6A1 VAR_034391 p.Val327Ile LB/B rs4740164 - POMT1 Q9Y6A1 VAR_034392 p.Asp433Glu LB/B rs11243406 - POMT1 Q9Y6A1 VAR_065027 p.Gly65Arg LP/P rs119462983 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1 (MDDGB1) [MIM:613155] POMT1 Q9Y6A1 VAR_065028 p.Arg105Cys LP/P rs1289335417 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670] POMT1 Q9Y6A1 VAR_065029 p.Arg105His LP/P rs1554772469 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670] POMT1 Q9Y6A1 VAR_065031 p.Gly207Val LP/P - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670] POMT1 Q9Y6A1 VAR_065032 p.Leu285Phe LB/B rs201073763 - POMT1 Q9Y6A1 VAR_065033 p.Arg522Lys LB/B rs117985576 - POMT1 Q9Y6A1 VAR_065034 p.Trp582Cys LP/P rs119462984 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1 (MDDGB1) [MIM:613155] POMT1 Q9Y6A1 VAR_065035 p.Gln590His LP/P rs119462986 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1 (MDDGB1) [MIM:613155] POMT1 Q9Y6A1 VAR_065036 p.Ala669Thr LP/P rs119462987 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1 (MDDGB1) [MIM:613155] POMT2 Q9UKY4 VAR_022083 p.Ala54Glu LB/B rs8177536 - POMT2 Q9UKY4 VAR_065037 p.Thr184Met LP/P rs267606971 Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2) [MIM:613158] POMT2 Q9UKY4 VAR_065038 p.Ile198Asn LP/P rs267606972 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150] POMT2 Q9UKY4 VAR_065039 p.Gly246Asp LP/P rs267606966 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2 (MDDGB2) [MIM:613156] POMT2 Q9UKY4 VAR_065040 p.Gly353Ser LP/P rs267606970 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150] POMT2 Q9UKY4 VAR_065041 p.Val373Phe LP/P rs267606965 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150] POMT2 Q9UKY4 VAR_065042 p.Arg413Pro LP/P rs190285831 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150] POMT2 Q9UKY4 VAR_065044 p.Gly482Val LP/P rs267606968 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150] POMT2 Q9UKY4 VAR_065045 p.Tyr666Cys LP/P rs200198778 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150] POMT2 Q9UKY4 VAR_065045 p.Tyr666Cys LP/P rs200198778 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2 (MDDGB2) [MIM:613156] POMT2 Q9UKY4 VAR_065046 p.Phe717Ser LP/P - Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2 (MDDGB2) [MIM:613156] POMT2 Q9UKY4 VAR_065047 p.Gly726Glu LP/P rs267606969 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150] POMT2 Q9UKY4 VAR_065047 p.Gly726Glu LP/P rs267606969 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2 (MDDGB2) [MIM:613156] POMT2 Q9UKY4 VAR_065048 p.Trp748Arg LP/P rs267606964 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2 (MDDGB2) [MIM:613156] POMT2 Q9UKY4 VAR_065049 p.Trp748Ser LP/P rs267606967 Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2) [MIM:613158] POMT2 Q9UKY4 VAR_068968 p.His478Arg LP/P rs765346043 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150] POMZP3 Q6PJE2 VAR_056721 p.Arg176His LB/B rs1065538 - PON1 P27169 VAR_006043 p.Leu55Met LB/B rs854560 - PON1 P27169 VAR_006044 p.Gln192Arg LB/B rs662 - PON1 P27169 VAR_015882 p.Ile102Val LB/B rs72552787 - PON1 P27169 VAR_055342 p.Arg160Gly LB/B rs13306698 - PON2 Q15165 VAR_006045 p.Ala148Gly LB/B rs12026 - PON2 Q15165 VAR_006046 p.Ser311Cys LB/B rs7493 - PON2 Q15165 VAR_020786 p.Val172Leu LB/B rs17876152 - PON3 Q15166 VAR_021082 p.Glu146Lys LB/B rs17878827 - PON3 Q15166 VAR_021083 p.Ala179Asp LB/B rs17883013 - POP1 Q99575 VAR_036232 p.Glu675Gln US - A breast cancer sample POP1 Q99575 VAR_057746 p.Ser127Leu LB/B rs3824145 - POP1 Q99575 VAR_057747 p.Glu460Ala LB/B rs2306131 - POP1 Q99575 VAR_057748 p.Lys522Asn LB/B rs17184326 - POP1 Q99575 VAR_057749 p.Leu994Val LB/B rs17856355 - POP1 Q99575 VAR_067755 p.Gly583Glu LP/P rs374828868 Anauxetic dysplasia 2 (ANXD2) [MIM:617396] POP1 Q99575 VAR_078770 p.Asp511Tyr LP/P rs1060505025 Anauxetic dysplasia 2 (ANXD2) [MIM:617396] POP1 Q99575 VAR_078771 p.Pro582Ser LP/P rs1060505023 Anauxetic dysplasia 2 (ANXD2) [MIM:617396] POPDC2 Q9HBU9 VAR_053601 p.Val29Ile LB/B rs4688023 - POPDC3 Q9HBV1 VAR_053602 p.Arg106Gln LB/B rs11961225 - POPDC3 Q9HBV1 VAR_084034 p.Leu155His LP/P rs1311819000 Muscular dystrophy, limb-girdle, autosomal recessive 26 (LGMDR26) [MIM:618848] POPDC3 Q9HBV1 VAR_084035 p.Leu217Phe LP/P rs1054547392 Muscular dystrophy, limb-girdle, autosomal recessive 26 (LGMDR26) [MIM:618848] POPDC3 Q9HBV1 VAR_084036 p.Arg261Gln LP/P rs1437210856 Muscular dystrophy, limb-girdle, autosomal recessive 26 (LGMDR26) [MIM:618848] POR P16435 VAR_004617 p.Ala500Val LB/B rs1057868 - POR P16435 VAR_004618 p.Arg551Gln LB/B rs781960466 - POR P16435 VAR_021154 p.Tyr178Asp LP/P rs72552771 Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571] POR P16435 VAR_021155 p.Ala284Pro LP/P rs121912974 Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750] POR P16435 VAR_021155 p.Ala284Pro LP/P rs121912974 Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571] POR P16435 VAR_021156 p.Arg454His LP/P rs28931608 Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750] POR P16435 VAR_021156 p.Arg454His LP/P rs28931608 Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571] POR P16435 VAR_021157 p.Val489Glu LP/P rs28931606 Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750] POR P16435 VAR_021158 p.Cys566Tyr LP/P rs28931607 Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571] POR P16435 VAR_021159 p.Tyr575Cys LP/P rs121912975 Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750] POR P16435 VAR_021160 p.Val605Phe LP/P rs72552772 Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571] POR P16435 VAR_047885 p.Pro225Leu LB/B rs17853284 - POR P16435 VAR_047886 p.Asp252Asn LB/B rs41299514 - PORCN Q9H237 VAR_035089 p.Gly60Arg LP/P rs267606973 Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_035090 p.Arg365Gly LP/P - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_058899 p.Ser136Phe LP/P - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_058900 p.Gly168Arg LP/P rs1602072227 Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_058901 p.Arg228Cys US rs1556974235 - PORCN Q9H237 VAR_058902 p.Val258Glu LP/P - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_058903 p.His341Leu LP/P - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_058904 p.Arg365Gln LP/P rs2061714949 Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_058905 p.Cys385Arg LP/P - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_058906 p.Trp439Arg LP/P - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_065189 p.His252Tyr LP/P - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_065190 p.Ser297Leu LP/P - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_065191 p.Leu331Arg LP/P - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_065192 p.Glu361Val LP/P - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_065193 p.Cys385Tyr LP/P - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_066061 p.Ala374Pro LP/P - Focal dermal hypoplasia (FODH) [MIM:305600] POSTN Q15063 VAR_049115 p.Thr339Ile LB/B rs9594223 - POSTN Q15063 VAR_049116 p.Val814Met LB/B rs9547952 - POT1 Q9NUX5 VAR_034393 p.Val529Met LB/B rs34973253 - POT1 Q9NUX5 VAR_071390 p.Tyr89Cys LP/P rs587777472 Tumor predisposition syndrome 3 (TPDS3) [MIM:615848] POT1 Q9NUX5 VAR_071391 p.Gln94Glu LP/P rs587777474 Tumor predisposition syndrome 3 (TPDS3) [MIM:615848] POT1 Q9NUX5 VAR_071392 p.Arg137His LP/P rs587777475 Tumor predisposition syndrome 3 (TPDS3) [MIM:615848] POT1 Q9NUX5 VAR_071393 p.Asp224Asn LP/P rs202187871 Tumor predisposition syndrome 3 (TPDS3) [MIM:615848] POT1 Q9NUX5 VAR_071394 p.Ser270Asn LP/P rs587777477 Tumor predisposition syndrome 3 (TPDS3) [MIM:615848] POT1 Q9NUX5 VAR_071395 p.Arg273Leu LP/P rs587777476 Tumor predisposition syndrome 3 (TPDS3) [MIM:615848] POT1 Q9NUX5 VAR_071396 p.Ala532Pro LP/P rs537377921 Tumor predisposition syndrome 3 (TPDS3) [MIM:615848] POT1 Q9NUX5 VAR_071397 p.Gln623His LP/P rs587777478 Tumor predisposition syndrome 3 (TPDS3) [MIM:615848] POT1 Q9NUX5 VAR_075717 p.Gly95Cys LP/P rs797045168 Tumor predisposition syndrome 3 (TPDS3) [MIM:615848] POT1 Q9NUX5 VAR_088595 p.Ile78Thr US - Tumor predisposition syndrome 3 (TPDS3) [MIM:615848] POT1 Q9NUX5 VAR_088596 p.Leu259Ser US - Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 8 (PFBMFT8) [MIM:620367] POT1 Q9NUX5 VAR_088597 p.Arg273Gln LP/P - Tumor predisposition syndrome 3 (TPDS3) [MIM:615848] POT1 Q9NUX5 VAR_088598 p.Ser322Leu US - Cerebroretinal microangiopathy with calcifications and cysts 3 (CRMCC3) [MIM:620368] POTEB A0A0A6YYL3 VAR_080177 p.Glu249Gln LB/B rs1470504102 - POTEB A0A0A6YYL3 VAR_080178 p.Leu492Ser LB/B - - POTEB A0A0A6YYL3 VAR_080179 p.Lys498Met LB/B rs1340702692 - POTEB A0A0A6YYL3 VAR_080180 p.Thr531Ala LB/B rs1269910098 - POTEB3 A0JP26 VAR_019915 p.Met43Val LB/B rs2605913 - POTEB3 A0JP26 VAR_019919 p.Asn88Asp LB/B rs2458862 - POTEB3 A0JP26 VAR_019921 p.Lys511Glu LB/B rs1949282 - POTEB3 A0JP26 VAR_019922 p.Met535Lys LB/B rs1828869 - POTEB3 A0JP26 VAR_059119 p.Ala568Thr LB/B rs1828868 - POTEB3 A0JP26 VAR_080181 p.His30Asp LB/B rs200845208 - POTEB3 A0JP26 VAR_080182 p.Asp203Gly LB/B - - POTEB3 A0JP26 VAR_080183 p.Gln286Glu LB/B rs2445603 - POTEC B2RU33 VAR_045825 p.Thr3Ala LB/B rs28535987 - POTEC B2RU33 VAR_045826 p.Ala10Thr LB/B rs45488295 - POTEC B2RU33 VAR_045827 p.Ala13Thr LB/B rs45561536 - POTEC B2RU33 VAR_045828 p.Phe28Cys LB/B rs45626231 - POTEC B2RU33 VAR_045829 p.His30Pro LB/B rs9807633 - POTEC B2RU33 VAR_045830 p.Lys36Arg LB/B rs45570841 - POTEC B2RU33 VAR_045831 p.His66Arg LB/B rs9807555 - POTEC B2RU33 VAR_045832 p.Cys72Tyr LB/B rs45554841 - POTEC B2RU33 VAR_045833 p.His86Asp LB/B rs45469098 - POTEC B2RU33 VAR_045834 p.Met166Ile LB/B rs12454500 - POTEC B2RU33 VAR_045835 p.Cys221Arg LB/B rs7505568 - POTED Q86YR6 VAR_016242 p.Gly113Ser LB/B rs6517869 - POTED Q86YR6 VAR_016243 p.Ile135Val LB/B rs6517870 - POTED Q86YR6 VAR_064765 p.Glu172Gln LB/B rs1429512928 - POU1F1 P28069 VAR_003776 p.Gln4Arg LB/B rs1051612 - POU1F1 P28069 VAR_003777 p.Pro24Leu LP/P rs104893757 Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_003778 p.Arg143Gln LP/P rs104893759 Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_003779 p.Ala158Pro LP/P rs104893756 Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_003780 p.Asp227Tyr LB/B rs1131815 - POU1F1 P28069 VAR_003781 p.Arg271Trp LP/P rs104893755 Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_010574 p.Phe135Cys LP/P rs104893761 Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_010575 p.Glu174Gly LP/P rs1207179169 Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_010576 p.Pro239Ser LP/P rs104893762 Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_015260 p.Trp193Arg LP/P rs104893758 Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_049361 p.Ala19Val LB/B rs35182189 - POU1F1 P28069 VAR_063425 p.Arg172Gln LP/P rs104893765 Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_063426 p.Ser179Arg LP/P rs104893766 Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_063427 p.Glu230Lys LP/P rs104893764 Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_075530 p.Pro76Leu LP/P - Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_075531 p.Arg265Trp LP/P rs780359925 Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] POU2AF1 Q16633 VAR_005521 p.Thr141Ala LB/B rs1042750 - POU2AF1 Q16633 VAR_005522 p.Gln194Arg LB/B rs1042751 - POU2F1 P14859 VAR_035816 p.Ser88Phe US - A breast cancer sample POU2F3 Q9UKI9 VAR_031618 p.His152Arg LB/B rs7110845 - POU2F3 Q9UKI9 VAR_055906 p.Arg390Lys LB/B rs2282537 - POU3F3 P20264 VAR_083086 p.Arg362Leu LP/P - Snijders Blok-Fisher syndrome (SNIBFIS) [MIM:618604] POU3F3 P20264 VAR_083087 p.Arg407Gly LP/P - Snijders Blok-Fisher syndrome (SNIBFIS) [MIM:618604] POU3F3 P20264 VAR_083088 p.Arg407Leu LP/P - Snijders Blok-Fisher syndrome (SNIBFIS) [MIM:618604] POU3F3 P20264 VAR_083091 p.Asn456Ser LP/P - Snijders Blok-Fisher syndrome (SNIBFIS) [MIM:618604] POU3F4 P49335 VAR_003782 p.Ala312Val LP/P rs387906502 Deafness, X-linked, 2 (DFNX2) [MIM:304400] POU3F4 P49335 VAR_003783 p.Leu317Trp LP/P rs104894921 Deafness, X-linked, 2 (DFNX2) [MIM:304400] POU3F4 P49335 VAR_003784 p.Arg323Gly LP/P rs104894924 Deafness, X-linked, 2 (DFNX2) [MIM:304400] POU3F4 P49335 VAR_003785 p.Arg330Ser LP/P rs104894923 Deafness, X-linked, 2 (DFNX2) [MIM:304400] POU3F4 P49335 VAR_003786 p.Lys334Glu LP/P rs104894922 Deafness, X-linked, 2 (DFNX2) [MIM:304400] POU3F4 P49335 VAR_067431 p.Gly237Ala LB/B rs5921979 - POU4F1 Q01851 VAR_085801 p.Gln306Arg LP/P rs1874704791 Ataxia, intention tremor, and hypotonia syndrome, childhood-onset (ATITHS) [MIM:619352] POU4F2 Q12837 VAR_059321 p.Ile40Thr LB/B rs13152799 - POU4F3 Q15319 VAR_045682 p.Leu223Pro LP/P rs121909057 Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459] POU4F3 Q15319 VAR_045683 p.Leu289Phe LP/P rs121909056 Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459] POU4F3 Q15319 VAR_079859 p.Asp64Val LP/P - Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459] POU4F3 Q15319 VAR_079861 p.Pro164Arg US rs367737951 Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459] POU4F3 Q15319 VAR_079863 p.Phe194Tyr LP/P - Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459] POU4F3 Q15319 VAR_079864 p.Ser222Leu LP/P - Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459] POU4F3 Q15319 VAR_079865 p.Glu232Lys US - Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459] POU4F3 Q15319 VAR_079866 p.Asn240Tyr LP/P - Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459] POU4F3 Q15319 VAR_079867 p.Ile281Val LP/P - Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459] POU4F3 Q15319 VAR_079868 p.Pro299Leu LP/P - Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459] POU4F3 Q15319 VAR_079870 p.Arg326Lys LP/P rs398123070 Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459] POU4F3 Q15319 VAR_079871 p.Lys328Glu LP/P rs1339291105 Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459] POU5F1 Q01860 VAR_003774 p.Thr322Ala LB/B - - POU5F1 Q01860 VAR_003775 p.Met357Leu LB/B - - POU5F1 Q01860 VAR_046203 p.Leu226Phe LB/B rs1150767 - POU5F1 Q01860 VAR_046204 p.Thr351Ile LB/B rs1061120 - POU5F1B Q06416 VAR_067432 p.Leu33Arg LB/B rs1061394 - POU5F1B Q06416 VAR_067433 p.Leu69Phe LB/B rs1061395 - POU5F1B Q06416 VAR_067434 p.Gly176Glu LB/B rs6998061 - POU5F1B Q06416 VAR_067435 p.Lys182Thr LB/B rs13273814 - POU5F1B Q06416 VAR_067436 p.Asn214Asp LB/B rs13274084 - POU5F1B Q06416 VAR_067437 p.Glu238Gln LB/B rs7002225 - POU5F1B Q06416 VAR_067438 p.Pro313Leu LB/B rs556361752 - POU6F2 P78424 VAR_022419 p.Gln192His LP/P - Hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583] POU6F2 P78424 VAR_028410 p.Pro199Leu LB/B rs2074936 - POU6F2 P78424 VAR_028411 p.Leu500Met LB/B rs4992268 - POU6F2 P78424 VAR_028412 p.Glu639Lys LB/B rs7804851 - PP2D1 A8MPX8 VAR_039272 p.Arg37His LB/B rs9882323 - PP2D1 A8MPX8 VAR_039273 p.Phe123Leu LB/B rs7652446 - PP2D1 A8MPX8 VAR_039274 p.Ala260Thr LB/B rs4103004 - PPA1 Q15181 VAR_036358 p.Lys57Asn US - A breast cancer sample PPA2 Q9H2U2 VAR_019723 p.Lys282Asn LB/B rs13787 - PPA2 Q9H2U2 VAR_077866 p.Ser61Pro LP/P - Sudden cardiac failure, infantile (SCFI) [MIM:617222] PPA2 Q9H2U2 VAR_077867 p.Met94Val LP/P rs1057517679 Sudden cardiac failure, infantile (SCFI) [MIM:617222] PPA2 Q9H2U2 VAR_077868 p.Met106Ile LP/P rs1057517680 Sudden cardiac failure, infantile (SCFI) [MIM:617222] PPA2 Q9H2U2 VAR_077869 p.Arg127Leu LP/P rs139076647 Sudden cardiac failure, infantile (SCFI) [MIM:617222] PPA2 Q9H2U2 VAR_077870 p.Pro167Leu LP/P rs546693824 Sudden cardiac failure, infantile (SCFI) [MIM:617222] PPA2 Q9H2U2 VAR_077871 p.Glu172Lys LP/P rs146013446 Sudden cardiac failure, alcohol-induced (SCFAI) [MIM:617223] PPA2 Q9H2U2 VAR_077871 p.Glu172Lys LP/P rs146013446 Sudden cardiac failure, infantile (SCFI) [MIM:617222] PPA2 Q9H2U2 VAR_077872 p.Pro228Leu LP/P rs138215926 Sudden cardiac failure, alcohol-induced (SCFAI) [MIM:617223] PPA2 Q9H2U2 VAR_077873 p.Gln294Pro LP/P rs1057517678 Sudden cardiac failure, infantile (SCFI) [MIM:617222] PPAN Q9NQ55 VAR_022157 p.Gly358Val LB/B rs2305793 - PPAN Q9NQ55 VAR_048422 p.Gln408Arg LB/B rs11559188 - PPARA Q07869 VAR_016110 p.Arg127Gln LB/B rs1800204 - PPARA Q07869 VAR_016111 p.Leu162Val LB/B rs1800206 - PPARA Q07869 VAR_016112 p.Val227Ala LB/B rs1800234 - PPARA Q07869 VAR_016113 p.Ala268Val LB/B rs1042311 - PPARA Q07869 VAR_016114 p.Asp304Asn LB/B rs1800242 - PPARA Q07869 VAR_016115 p.Arg409Thr LB/B rs1800243 - PPARA Q07869 VAR_050578 p.Gly395Arg LB/B rs2229245 - PPARG P37231 VAR_010723 p.Pro12Ala LB/B rs1801282 - PPARG P37231 VAR_010724 p.Pro113Gln LP/P rs1800571 Obesity (OBESITY) [MIM:601665] PPARG P37231 VAR_010725 p.Gln314Pro US rs121909242 Colon cancer PPARG P37231 VAR_010726 p.Arg316His US rs28936407 Colon cancer PPARG P37231 VAR_010727 p.Val318Met LB/B rs72551362 - PPARG P37231 VAR_010728 p.Pro495Leu LB/B rs121909244 - PPARG P37231 VAR_016116 p.Pro40Ala LB/B rs1805192 - PPARG P37231 VAR_022700 p.Phe388Leu LP/P rs72551363 Lipodystrophy, familial partial, 3 (FPLD3) [MIM:604367] PPARG P37231 VAR_022701 p.Arg425Cys LP/P rs72551364 Lipodystrophy, familial partial, 3 (FPLD3) [MIM:604367] PPARGC1A Q9UBK2 VAR_018450 p.Gly482Ser LB/B rs8192678 - PPARGC1A Q9UBK2 VAR_018451 p.Thr612Met LB/B rs3736265 - PPARGC1B Q86YN6 VAR_026698 p.Ala203Pro LB/B rs7732671 - PPARGC1B Q86YN6 VAR_026699 p.Arg265Gln LB/B rs45520937 - PPARGC1B Q86YN6 VAR_026700 p.Val279Ile LB/B rs17572019 - PPARGC1B Q86YN6 VAR_026701 p.Arg292Ser LB/B rs11959820 - PPCDC Q96CD2 VAR_068974 p.Ile78Met LB/B rs2304899 - PPCS Q9HAB8 VAR_081991 p.Ala180Pro LP/P rs1557776329 Cardiomyopathy, dilated, 2C (CMD2C) [MIM:618189] PPCS Q9HAB8 VAR_081992 p.Glu233Val LP/P rs1557778277 Cardiomyopathy, dilated, 2C (CMD2C) [MIM:618189] PPEF1 O14829 VAR_051736 p.Lys367Thr LB/B rs1065074 - PPEF1 O14829 VAR_051737 p.Gly443Ser LB/B rs11796620 - PPEF2 O14830 VAR_010230 p.Ser120Arg LB/B - - PPEF2 O14830 VAR_055121 p.Val394Leu LB/B rs34097437 - PPEF2 O14830 VAR_055122 p.Glu412Lys LB/B rs35599561 - PPEF2 O14830 VAR_055123 p.Arg553Lys LB/B rs34155925 - PPEF2 O14830 VAR_055124 p.Ser575Cys LB/B rs17000961 - PPEF2 O14830 VAR_061759 p.Met481Leu LB/B rs6858658 - PPFIA1 Q13136 VAR_017756 p.Val71Ile LB/B rs546502 - PPFIA1 Q13136 VAR_049998 p.Leu1072Phe LB/B rs11236045 - PPFIA3 O75145 VAR_017757 p.Ala563Ser LB/B rs2303053 - PPFIBP1 Q86W92 VAR_017758 p.Val148Leu LB/B rs2194816 - PPFIBP1 Q86W92 VAR_087718 p.Gly732Val US - Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities (NEDSMBA) [MIM:620024] PPFIBP2 Q8ND30 VAR_049999 p.Arg658Gly LB/B rs4758209 - PPHLN1 Q8NEY8 VAR_036233 p.Val173Met US rs140585847 A breast cancer sample PPIB P23284 VAR_047711 p.Val60Leu LB/B rs11558595 - PPIB P23284 VAR_063436 p.Met9Arg LP/P rs137853864 Osteogenesis imperfecta 9 (OI9) [MIM:259440] PPIC P45877 VAR_024319 p.Asn190Ser LB/B rs451195 - PPIC P45877 VAR_051770 p.Lys86Arg LB/B rs34341374 - PPIC P45877 VAR_060712 p.His160Leu LB/B rs45560036 - PPID Q08752 VAR_021021 p.Arg49Cys LB/B rs2070631 - PPID Q08752 VAR_021022 p.Leu302Ile LB/B rs9410 - PPID Q08752 VAR_021023 p.Gly335Glu LB/B rs17843956 - PPID Q08752 VAR_051771 p.Asp196Val LB/B rs2230222 - PPIG Q13427 VAR_055084 p.Asp445Glu LB/B rs1050354 - PPIG Q13427 VAR_055085 p.Asn699Asp LB/B rs8207 - PPIL1 Q9Y3C6 VAR_051772 p.Cys36Ser LB/B rs12194408 - PPIL1 Q9Y3C6 VAR_085507 p.Tyr78Cys US - Pontocerebellar hypoplasia 14 (PCH14) [MIM:619301] PPIL1 Q9Y3C6 VAR_085508 p.Phe82Ser US - Pontocerebellar hypoplasia 14 (PCH14) [MIM:619301] PPIL1 Q9Y3C6 VAR_085509 p.Ala99Thr LP/P rs199818754 Pontocerebellar hypoplasia 14 (PCH14) [MIM:619301] PPIL1 Q9Y3C6 VAR_085511 p.Thr107Ala US - Pontocerebellar hypoplasia 14 (PCH14) [MIM:619301] PPIL1 Q9Y3C6 VAR_085512 p.Gly109Cys US - Pontocerebellar hypoplasia 14 (PCH14) [MIM:619301] PPIL1 Q9Y3C6 VAR_085513 p.Thr127Ala LP/P rs553128312 Pontocerebellar hypoplasia 14 (PCH14) [MIM:619301] PPIL1 Q9Y3C6 VAR_085514 p.Arg131Gln LP/P rs765668519 Pontocerebellar hypoplasia 14 (PCH14) [MIM:619301] PPIL3 Q9H2H8 VAR_023417 p.Asp146Glu LB/B rs7562391 - PPIL6 Q8IXY8 VAR_029620 p.His110Arg LB/B rs9398200 - PPIP5K2 O43314 VAR_038276 p.Ala944Gly LB/B rs17155115 - PPIP5K2 O43314 VAR_038277 p.Glu985Lys LB/B rs12519525 - PPIP5K2 O43314 VAR_038278 p.Arg1003Lys LB/B rs12520040 - PPIP5K2 O43314 VAR_038279 p.Pro1206Gln LB/B rs17155138 - PPIP5K2 O43314 VAR_038280 p.Thr1232Met LB/B rs17155147 - PPIP5K2 O43314 VAR_082201 p.Arg837His LP/P rs548137246 Deafness, autosomal recessive, 100 (DFNB100) [MIM:618422] PPL O60437 VAR_055125 p.Arg520Gln LB/B rs8063727 - PPL O60437 VAR_055126 p.Ala572Ser LB/B rs35300633 - PPL O60437 VAR_055127 p.Arg589Gln LB/B rs1049205 - PPL O60437 VAR_055128 p.His631Tyr LB/B rs34936263 - PPL O60437 VAR_055129 p.Arg819Ser LB/B rs2734742 - PPL O60437 VAR_055130 p.Glu891Gln LB/B rs35869286 - PPL O60437 VAR_055131 p.Ala1007Val LB/B rs2075639 - PPL O60437 VAR_055132 p.Glu1199Gln LB/B rs12446946 - PPL O60437 VAR_055133 p.Gln1573Glu LB/B rs2037912 - PPL O60437 VAR_055134 p.Gly1754Arg LB/B rs35865314 - PPM1D O15297 VAR_070430 p.Pro322Gln LB/B rs17855093 - PPM1E Q8WY54 VAR_036518 p.Leu222Ser US - A breast cancer sample PPM1E Q8WY54 VAR_036519 p.Arg311Gly US - A breast cancer sample PPM1F P49593 VAR_024580 p.Leu420Arg LB/B rs2070507 - PPM1F P49593 VAR_036520 p.Arg296Gln US rs1318162463 A colorectal cancer sample PPM1F P49593 VAR_036521 p.Gln417Lys US - A breast cancer sample PPM1F P49593 VAR_050620 p.Arg132Cys LB/B rs9610645 - PPM1F P49593 VAR_086701 p.Arg302Cys US rs1395693423 - PPM1J Q5JR12 VAR_032566 p.Leu213Phe LB/B rs34611728 - PPM1J Q5JR12 VAR_032567 p.Val236Ile LB/B rs10857971 - PPM1K Q8N3J5 VAR_030691 p.Asn94Lys LB/B rs17853762 - PPM1K Q8N3J5 VAR_050621 p.Glu321Lys LB/B rs35523553 - PPM1K Q8N3J5 VAR_069736 p.Arg26His LB/B rs369916009 - PPM1K Q8N3J5 VAR_088515 p.Ile167Thr LB/B rs11557705 - PPM1L Q5SGD2 VAR_050622 p.Ala262Ser LB/B rs13326359 - PPOX P50336 VAR_003686 p.Arg59Trp LP/P rs121918324 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_003687 p.Arg152Cys LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_003688 p.Arg168Cys LP/P rs121918325 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_003689 p.Gly232Arg LP/P rs121918323 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_003690 p.Arg304His LB/B rs36013429 - PPOX P50336 VAR_034395 p.Pro256Arg US rs12735723 - PPOX P50336 VAR_070377 p.Gly11Ser LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070378 p.Gly11Asp LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070379 p.Ile12Thr LP/P rs28936677 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070380 p.Leu15Phe LP/P rs769452432 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070381 p.His20Pro LP/P rs121918326 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070382 p.Glu34Val LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070383 p.Arg38Pro LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070384 p.Gly40Ala LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070385 p.Gly40Glu LP/P rs1317835140 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070386 p.Gly57Arg LP/P rs764352037 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070387 p.Leu73Pro LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070388 p.Ser76Phe LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070389 p.Val84Gly LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070390 p.Leu85Pro LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070391 p.His106Pro LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070392 p.Arg138Pro LP/P rs767419411 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070393 p.Gly139Asp LP/P rs369381477 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070394 p.Asp143Val LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070395 p.Leu154Pro LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070396 p.Val158Leu LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070397 p.Val158Met LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070398 p.Arg168His LP/P rs41270025 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070399 p.Gly169Glu LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070400 p.Ala172Val LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070401 p.Leu178Val LP/P rs757473753 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070402 p.Ala205Val LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070403 p.Arg217Cys LP/P rs751599052 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070404 p.Trp224Gly LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070405 p.Trp224Arg LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070406 p.Gly232Ser LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070407 p.Leu236Ser LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070409 p.Val282Asp LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070410 p.Ile283Asn LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070411 p.Val290Met LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070412 p.Leu295Pro LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070413 p.Gly330Arg LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070414 p.Gly332Ala LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070415 p.Val335Gly LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070416 p.Tyr348Cys LP/P rs900431442 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070417 p.Asp349Ala LP/P rs28936676 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070418 p.Ser350Pro LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070419 p.Gly358Arg LP/P rs374936130 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070420 p.Ala397Asp LP/P rs141274934 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070421 p.Leu401Phe LP/P rs776530007 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070422 p.Pro420Arg LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070423 p.Tyr422Cys LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070424 p.Ala433Pro LP/P rs1361576529 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070425 p.Leu444Pro LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070426 p.Gly448Arg LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070427 p.Ser450Pro LP/P - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070428 p.Gly453Arg LP/P rs928944841 Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_070429 p.Gly453Val LP/P - Variegate porphyria (VP) [MIM:176200] PPP1CB P62140 VAR_076839 p.Pro49Arg LP/P rs886037952 Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506] PPP1CB P62140 VAR_076840 p.Ala56Pro LP/P rs1114167429 Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506] PPP1CB P62140 VAR_079189 p.Glu183Ala LP/P rs886037954 Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506] PPP1CB P62140 VAR_079190 p.Glu183Val LP/P rs886037954 Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506] PPP1CB P62140 VAR_079191 p.Asp252Tyr LP/P rs886037953 Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506] PPP1CB P62140 VAR_079192 p.Glu274Lys US rs886037955 Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506] PPP1CC P36873 VAR_051734 p.Phe152Ser LB/B rs11558237 - PPP1R10 Q96QC0 VAR_051747 p.Arg173Pro LB/B rs16897725 - PPP1R12A O14974 VAR_038949 p.Cys116Trp LB/B rs12582646 - PPP1R12A O14974 VAR_038950 p.Thr305Pro LB/B rs2596781 - PPP1R12A O14974 VAR_038951 p.Lys734Asn LB/B rs12820960 - PPP1R12B O60237 VAR_017480 p.Val182Ile LB/B rs2843414 - PPP1R12B O60237 VAR_024177 p.Arg836Lys LB/B rs3881953 - PPP1R12C Q9BZL4 VAR_048310 p.Arg419Cys LB/B rs35849605 - PPP1R14C Q8TAE6 VAR_025547 p.Thr10Ala LB/B rs2297672 - PPP1R15A O75807 VAR_039186 p.Arg31His LB/B rs564196 - PPP1R15A O75807 VAR_039187 p.Ala32Thr LB/B rs3786734 - PPP1R15A O75807 VAR_039188 p.Val199Ala LB/B rs611251 - PPP1R15A O75807 VAR_039189 p.Arg251Pro LB/B rs557806 - PPP1R15A O75807 VAR_039190 p.Lys277Glu LB/B rs610308 - PPP1R15A O75807 VAR_039191 p.Ala316Pro LB/B rs556052 - PPP1R15A O75807 VAR_039192 p.Ala381Val LB/B rs1050166 - PPP1R15A O75807 VAR_039193 p.Arg476Ser LB/B rs35087747 - PPP1R15A O75807 VAR_039194 p.Arg594Cys LB/B rs2270946 - PPP1R15A O75807 VAR_039195 p.Thr597Ala LB/B rs500079 - PPP1R15A O75807 VAR_062226 p.Gly312Ser LB/B rs11541192 - PPP1R15B Q5SWA1 VAR_039196 p.Pro26Ser LB/B rs12094135 - PPP1R15B Q5SWA1 VAR_039197 p.Glu144Lys LB/B rs4492688 - PPP1R15B Q5SWA1 VAR_039198 p.Ser308Asn LB/B rs3014626 - PPP1R15B Q5SWA1 VAR_039199 p.Glu363Gly LB/B rs2089891 - PPP1R15B Q5SWA1 VAR_039200 p.Lys589Glu LB/B rs17855962 - PPP1R15B Q5SWA1 VAR_074072 p.Arg658Cys LP/P rs869025335 Microcephaly, short stature, and impaired glucose metabolism 2 (MSSGM2) [MIM:616817] PPP1R15B Q5SWA1 VAR_079851 p.Pro134Ser US rs755194116 - PPP1R17 O96001 VAR_027838 p.Leu12Val LB/B rs3735422 - PPP1R17 O96001 VAR_051025 p.Leu10Arg LB/B rs36047130 - PPP1R18 Q6NYC8 VAR_034045 p.Pro356Leu LB/B rs2213944 - PPP1R18 Q6NYC8 VAR_046132 p.Arg222Gly LB/B rs9262144 - PPP1R18 Q6NYC8 VAR_046133 p.Gly339Arg LB/B rs9262143 - PPP1R1A Q13522 VAR_053898 p.Gly109Glu LB/B rs1249958 - PPP1R1A Q13522 VAR_053899 p.Gly147Asp LB/B rs34376731 - PPP1R26 Q5T8A7 VAR_036906 p.Val98Ala LB/B rs3748192 - PPP1R26 Q5T8A7 VAR_036907 p.Lys206Glu LB/B rs3928777 - PPP1R26 Q5T8A7 VAR_036908 p.Arg346Lys LB/B rs914644 - PPP1R26 Q5T8A7 VAR_036909 p.Met434Thr LB/B rs1808998 - PPP1R26 Q5T8A7 VAR_036910 p.Arg520His LB/B rs3748195 - PPP1R26 Q5T8A7 VAR_036911 p.Gly576Ser LB/B rs17854528 - PPP1R26 Q5T8A7 VAR_036912 p.Asn834Asp LB/B rs2078266 - PPP1R36 Q96LQ0 VAR_022999 p.Thr83Ile LB/B rs6573560 - PPP1R36 Q96LQ0 VAR_061612 p.Phe267Leu LB/B rs45482504 - PPP1R3A Q16821 VAR_019697 p.Arg883Ser LB/B rs1800000 - PPP1R3A Q16821 VAR_019698 p.Asp905Tyr LB/B rs1799999 - PPP1R3A Q16821 VAR_019699 p.Ala931Glu LP/P rs35449651 Type 2 diabetes mellitus (T2D) [MIM:125853] PPP1R3A Q16821 VAR_027929 p.Gly45Ser LB/B rs8192687 - PPP1R3A Q16821 VAR_027930 p.Cys231Tyr LB/B rs7801819 - PPP1R3A Q16821 VAR_027931 p.Val451Met LB/B rs2974942 - PPP1R3A Q16821 VAR_027932 p.Asn476Lys LB/B rs2974944 - PPP1R3A Q16821 VAR_027933 p.Glu748Lys LB/B rs4304271 - PPP1R3A Q16821 VAR_027934 p.Leu882His LB/B rs2974938 - PPP1R3A Q16821 VAR_036287 p.Gly554Ala US - A breast cancer sample PPP1R3A Q16821 VAR_057128 p.Arg627Lys LB/B rs35067467 - PPP1R3B Q86XI6 VAR_039814 p.Gly48Glu LB/B rs3748140 - PPP1R3C Q9UQK1 VAR_059775 p.Ala109Ser LB/B rs7089948 - PPP1R3C Q9UQK1 VAR_067339 p.Asn249Ser LB/B rs373998228 - PPP1R3F Q6ZSY5 VAR_028918 p.Phe351Ser LB/B rs17148347 - PPP1R3F Q6ZSY5 VAR_076266 p.Glu441Lys LB/B - - PPP1R3G B7ZBB8 VAR_063262 p.Pro280Gln LB/B rs436556 - PPP1R9A Q9ULJ8 VAR_051746 p.Met331Val LB/B rs10230714 - PPP1R9B Q96SB3 VAR_059776 p.Ala201Thr LB/B rs8079707 - PPP2CA P67775 VAR_051735 p.Val52Ala LB/B rs11552681 - PPP2CA P67775 VAR_082064 p.Gly60Val US rs1580641099 Houge-Janssens syndrome 3 (HJS3) [MIM:618354] PPP2CA P67775 VAR_082065 p.Asp88Gly LP/P rs1561737008 Houge-Janssens syndrome 3 (HJS3) [MIM:618354] PPP2CA P67775 VAR_082066 p.Gln122His LP/P rs764595667 Houge-Janssens syndrome 3 (HJS3) [MIM:618354] PPP2CA P67775 VAR_082068 p.Tyr127Cys LP/P rs1580637688 Houge-Janssens syndrome 3 (HJS3) [MIM:618354] PPP2CA P67775 VAR_082069 p.Asp131His LP/P rs1580637673 Houge-Janssens syndrome 3 (HJS3) [MIM:618354] PPP2CA P67775 VAR_082070 p.His191Arg LP/P rs915349596 Houge-Janssens syndrome 3 (HJS3) [MIM:618354] PPP2CA P67775 VAR_082072 p.Asp223His LP/P rs1580636668 Houge-Janssens syndrome 3 (HJS3) [MIM:618354] PPP2CA P67775 VAR_082073 p.Asp223Val LP/P rs1580636665 Houge-Janssens syndrome 3 (HJS3) [MIM:618354] PPP2CA P67775 VAR_082074 p.Tyr265Cys LP/P rs1561733474 Houge-Janssens syndrome 3 (HJS3) [MIM:618354] PPP2R1A P30153 VAR_073718 p.Val132Leu LP/P - Houge-Janssens syndrome 2 (HJS2) [MIM:616362] PPP2R1A P30153 VAR_074488 p.Pro179Leu LP/P rs786205228 Houge-Janssens syndrome 2 (HJS2) [MIM:616362] PPP2R1A P30153 VAR_074489 p.Arg182Trp LP/P rs786205227 Houge-Janssens syndrome 2 (HJS2) [MIM:616362] PPP2R1A P30153 VAR_074490 p.Arg258His LP/P rs863225094 Houge-Janssens syndrome 2 (HJS2) [MIM:616362] PPP2R1A P30153 VAR_088637 p.Met180Thr LP/P - Houge-Janssens syndrome 2 (HJS2) [MIM:616362] PPP2R1A P30153 VAR_088638 p.Met180Val LP/P - Houge-Janssens syndrome 2 (HJS2) [MIM:616362] PPP2R1A P30153 VAR_088639 p.Val470Ala US - Houge-Janssens syndrome 2 (HJS2) [MIM:616362] PPP2R1A P30153 VAR_088640 p.Arg498Leu LP/P - Houge-Janssens syndrome 2 (HJS2) [MIM:616362] PPP2R1B P30154 VAR_006384 p.Gly90Asp US rs1805076 A lung cancer patient PPP2R1B P30154 VAR_022895 p.Gly8Arg US rs142771326 A lung cancer patient PPP2R1B P30154 VAR_022896 p.Gly15Ala US - A colorectal cancer patient PPP2R1B P30154 VAR_022897 p.Pro65Ser US - A lung cancer patient PPP2R1B P30154 VAR_022898 p.Leu101Pro US - A colon adenocarcinoma PPP2R1B P30154 VAR_022899 p.Lys343Glu US - A lung cancer patient PPP2R1B P30154 VAR_022900 p.Ser365Pro US rs1442893893 A colorectal cancer patient PPP2R1B P30154 VAR_022901 p.Val448Ala US - A colon adenocarcinoma PPP2R1B P30154 VAR_022902 p.Val498Glu US - A colorectal cancer patient PPP2R1B P30154 VAR_022903 p.Leu499Ile US - A colorectal cancer patient PPP2R1B P30154 VAR_022904 p.Val500Gly US - A colorectal cancer patient PPP2R1B P30154 VAR_022905 p.Asp504Gly US rs973682124 A lung cancer patient PPP2R1B P30154 VAR_022906 p.Val545Ala US rs1318084062 A colon adenocarcinoma PPP2R2B Q00005 VAR_051738 p.Gly36Val LB/B rs11547494 - PPP2R2B Q00005 VAR_078654 p.Arg138Pro US - - PPP2R2D Q66LE6 VAR_057127 p.Gly358Ser LB/B rs34473884 - PPP2R3A Q06190 VAR_022095 p.Asp745Asn LB/B rs16843645 - PPP2R3A Q06190 VAR_051739 p.Asp67Gly LB/B rs9814557 - PPP2R3A Q06190 VAR_051740 p.Asn108Ser LB/B rs36020282 - PPP2R3A Q06190 VAR_051741 p.Ala171Ser LB/B rs6779903 - PPP2R3A Q06190 VAR_051742 p.Pro481Ala LB/B rs34901937 - PPP2R3A Q06190 VAR_051743 p.Ser642Gly LB/B rs17197552 - PPP2R3A Q06190 VAR_051744 p.Pro695Leu LB/B rs9826032 - PPP2R3A Q06190 VAR_061760 p.Asp67Asn LB/B rs57374999 - PPP2R3B Q9Y5P8 VAR_035109 p.Asp163Glu LB/B rs3813594 - PPP2R3B Q9Y5P8 VAR_055356 p.Ala519Val LB/B rs1133520 - PPP2R3C Q969Q6 VAR_082202 p.Leu103Pro LP/P rs754106837 Myoectodermal gonadal dysgenesis syndrome (MEGD) [MIM:618419] PPP2R3C Q969Q6 VAR_082203 p.Leu193Ser LP/P rs1566411552 Myoectodermal gonadal dysgenesis syndrome (MEGD) [MIM:618419] PPP2R3C Q969Q6 VAR_082204 p.Phe350Ser LP/P rs1566684983 Myoectodermal gonadal dysgenesis syndrome (MEGD) [MIM:618419] PPP2R5C Q13362 VAR_051745 p.Ala515Pro LB/B rs3742424 - PPP2R5D Q14738 VAR_069414 p.Pro53Ser LB/B rs757369209 - PPP2R5D Q14738 VAR_073708 p.Glu198Lys LP/P rs863225082 Houge-Janssens syndrome 1 (HJS1) [MIM:616355] PPP2R5D Q14738 VAR_073709 p.Pro201Arg LP/P rs876657383 Houge-Janssens syndrome 1 (HJS1) [MIM:616355] PPP2R5D Q14738 VAR_074491 p.Glu200Lys LP/P rs863225079 Houge-Janssens syndrome 1 (HJS1) [MIM:616355] PPP2R5D Q14738 VAR_074492 p.Trp207Arg LP/P rs869320691 Houge-Janssens syndrome 1 (HJS1) [MIM:616355] PPP3CA Q08209 VAR_080348 p.His92Arg LP/P rs1553925558 Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] PPP3CA Q08209 VAR_080349 p.His281Gln LP/P rs199706529 Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] PPP3CA Q08209 VAR_080350 p.Glu282Lys LP/P rs1553923787 Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] PPP3CA Q08209 VAR_080352 p.Ala447Thr US rs1553920374 Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] PPP3CA Q08209 VAR_081900 p.Asn150Ile LP/P - Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] PPP3CA Q08209 VAR_081901 p.Asp234Glu LP/P - Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] PPP3CA Q08209 VAR_081902 p.Phe470Leu LP/P rs1560567347 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development (ACCIID) [MIM:618265] PPP3CA Q08209 VAR_081903 p.Ala473Thr LP/P rs1560567337 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development (ACCIID) [MIM:618265] PPP3CC P48454 VAR_061758 p.Ala501Val LB/B rs28764007 - PPP4R1 Q8TF05 VAR_017807 p.Glu43Lys LB/B rs1056191 - PPP4R1 Q8TF05 VAR_017808 p.Ile470Val LB/B rs329003 - PPP4R1 Q8TF05 VAR_017809 p.Ser595Asn LB/B rs2306134 - PPP4R1 Q8TF05 VAR_051748 p.Ser593Asn LB/B rs2306134 - PPP4R2 Q9NY27 VAR_034811 p.Ser282Cys LB/B rs34742137 - PPP4R2 Q9NY27 VAR_051749 p.Pro174Leu LB/B rs2306983 - PPP4R3B Q5MIZ7 VAR_057734 p.Ser293Thr LB/B rs34999684 - PPP4R3B Q5MIZ7 VAR_065187 p.Ile503Val LB/B rs2903704 - PPP6C O00743 VAR_085528 p.His55Tyr US - - PPP6C O00743 VAR_085529 p.His114Tyr US - - PPP6C O00743 VAR_085530 p.Gly189Arg US - - PPP6R2 O75170 VAR_058402 p.Asp633Glu LB/B rs11555194 - PPP6R2 O75170 VAR_058403 p.Arg732Lys LB/B rs13057311 - PPP6R3 Q5H9R7 VAR_057720 p.Ala842Val LB/B rs34009811 - PPRC1 Q5VV67 VAR_034633 p.Ser536Gly LB/B rs17114388 - PPRC1 Q5VV67 VAR_034634 p.Pro834Arg LB/B rs17855877 - PPRC1 Q5VV67 VAR_074628 p.Arg1288Gln LB/B rs118161359 - PPT1 P50897 VAR_005548 p.His39Gln LP/P rs386833627 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005549 p.Gly42Glu LP/P rs386833631 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005550 p.Thr75Pro LP/P rs137852696 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005551 p.Asp79Gly LP/P rs137852697 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005552 p.Tyr109Asp LP/P rs386833642 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005553 p.Arg122Trp LP/P rs137852695 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005554 p.Ile134Thr LB/B rs1800205 - PPT1 P50897 VAR_005555 p.Gln177Glu LP/P rs386833650 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005556 p.Val181Leu LP/P rs148412181 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005557 p.Val181Met LP/P rs148412181 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005558 p.Leu219Gln LP/P rs137852698 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005559 p.Tyr247His LP/P rs386833665 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005560 p.Gly250Val LP/P rs386833666 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_018511 p.Gly108Arg LP/P rs137852701 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_058434 p.Trp38Cys LP/P rs386833626 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_066874 p.Cys45Tyr LP/P rs137852702 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_066875 p.Ser138Leu LP/P rs386833646 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_066876 p.Cys152Tyr LP/P rs386833647 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_066877 p.His187Arg LP/P rs386833657 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_066878 p.Pro189Arg LP/P rs386833658 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_066879 p.Leu222Pro LP/P rs386833661 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_066880 p.Val228Gly LP/P rs386833663 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_066881 p.Trp296Arg LP/P rs386833669 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_066882 p.Leu305Pro LP/P rs386833671 Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] PPT2 Q9UMR5 VAR_027107 p.Cys5Trp LB/B rs3134604 - PPT2 Q9UMR5 VAR_027108 p.Ala34Glu LB/B rs3096696 - PPY P01298 VAR_050615 p.Glu78Gly LB/B rs7215698 - PQBP1 O60828 VAR_036357 p.Arg224Trp US - A colorectal cancer sample PQBP1 O60828 VAR_071063 p.Tyr65Cys LP/P rs121917899 Renpenning syndrome 1 (RENS1) [MIM:309500] PQBP1 O60828 VAR_078695 p.Pro244Leu US rs878853145 - PRAC1 Q96KF2 VAR_051285 p.Ala4Val LB/B rs34734055 - PRAF2 O60831 VAR_050628 p.Leu56Phe LB/B rs34565429 - PRAG1 Q86YV5 VAR_041803 p.Leu122Ile LB/B rs55764617 - PRAG1 Q86YV5 VAR_041804 p.Arg137Gly LB/B rs56290960 - PRAG1 Q86YV5 VAR_041805 p.Val139Ile LB/B rs34346032 - PRAG1 Q86YV5 VAR_041806 p.Arg404Gln LB/B rs3896980 - PRAG1 Q86YV5 VAR_041807 p.Pro569Leu LB/B rs4840955 - PRAG1 Q86YV5 VAR_041808 p.Ser578Cys LB/B rs4840953 - PRAG1 Q86YV5 VAR_041809 p.Pro595Ala LB/B rs55994745 - PRAG1 Q86YV5 VAR_041810 p.Pro662Thr LB/B rs56351643 - PRAG1 Q86YV5 VAR_041811 p.Pro814Leu LB/B rs56207906 - PRAG1 Q86YV5 VAR_041812 p.His851Arg LB/B rs56215812 - PRAG1 Q86YV5 VAR_041813 p.Ser1003Leu LB/B rs56289289 - PRAG1 Q86YV5 VAR_041814 p.Val1041Met LB/B rs28533138 - PRAG1 Q86YV5 VAR_041815 p.Ala1113Thr LB/B rs12549973 - PRAG1 Q86YV5 VAR_041816 p.Arg1315His LB/B rs1314830862 - PRAM1 Q96QH2 VAR_029808 p.Lys57Gln LB/B rs4804305 - PRAM1 Q96QH2 VAR_029809 p.Pro73Gln LB/B rs4239541 - PRAM1 Q96QH2 VAR_029810 p.Val76Phe LB/B rs4239540 - PRAM1 Q96QH2 VAR_061692 p.Gly135Glu LB/B rs58466313 - PRAME P78395 VAR_021258 p.Trp7Arg LB/B rs1129172 - PRAME P78395 VAR_062137 p.Met218Val LB/B rs41277507 - PRAMEF1 O95521 VAR_034396 p.Glu252Gln LB/B rs1063776 - PRAMEF1 O95521 VAR_034397 p.Tyr302Cys LB/B rs5003730 - PRAMEF1 O95521 VAR_053604 p.Leu204Met LB/B rs1063767 - PRAMEF1 O95521 VAR_053605 p.Arg386Ser LB/B rs1052908 - PRAMEF1 O95521 VAR_060091 p.Pro218Ser LB/B rs1769774 - PRAMEF1 O95521 VAR_060092 p.Gly372Ala LB/B rs1063795 - PRAMEF1 O95521 VAR_062138 p.Arg213His LB/B rs1063769 - PRAMEF10 O60809 VAR_029104 p.Lys99Ile LB/B rs3121398 - PRAMEF10 O60809 VAR_029105 p.Arg144His LB/B rs2797709 - PRAMEF10 O60809 VAR_029106 p.Thr306Ala LB/B rs848424 - PRAMEF10 O60809 VAR_029107 p.Arg402Gly LB/B rs1736772 - PRAMEF12 O95522 VAR_053608 p.Thr53Lys LB/B rs17346571 - PRAMEF12 O95522 VAR_053609 p.Thr157Met LB/B rs1812242 - PRAMEF2 O60811 VAR_034400 p.Val67Gly LB/B rs3204790 - PRAMEF2 O60811 VAR_034401 p.Ser68Trp LB/B rs17038657 - PRAMEF2 O60811 VAR_034402 p.Thr72Arg LB/B rs9659529 - PRAMEF2 O60811 VAR_034403 p.Ala128Thr LB/B rs142476002 - PRAMEF2 O60811 VAR_034404 p.Thr141Met LB/B rs17038667 - PRAMEF2 O60811 VAR_034405 p.Tyr225Cys LB/B rs3204805 - PRAMEF2 O60811 VAR_034406 p.Thr233Asn LB/B rs17038692 - PRAMEF2 O60811 VAR_034407 p.Thr301Ala LB/B rs12139546 - PRAMEF2 O60811 VAR_034408 p.Cys302Tyr LB/B rs17404799 - PRAMEF2 O60811 VAR_034409 p.Asn304Tyr LB/B rs1063784 - PRAMEF2 O60811 VAR_034410 p.Glu308Gly LB/B rs12139550 - PRAMEF2 O60811 VAR_034411 p.Leu310Met LB/B rs1063787 - PRAMEF2 O60811 VAR_034412 p.Phe316Tyr LB/B rs1063788 - PRAMEF2 O60811 VAR_034413 p.Cys375Arg LB/B rs1063796 - PRAMEF2 O60811 VAR_053606 p.Glu83Lys LB/B rs9728577 - PRAMEF2 O60811 VAR_060093 p.Arg33Ser LB/B rs9661554 - PRAMEF4 O60810 VAR_053607 p.Asp85Glu LB/B rs4625290 - PRAP1 Q96NZ9 VAR_034815 p.Glu54Gly LB/B - - PRAP1 Q96NZ9 VAR_034816 p.Lys69Arg LB/B - - PRAP1 Q96NZ9 VAR_034817 p.Gly81Ser LB/B rs34780987 - PRAP1 Q96NZ9 VAR_034818 p.His101Arg LB/B rs4369319 - PRB1 P04280 VAR_080188 p.Ser337Ala LB/B - - PRB2 P02812 VAR_019695 p.Pro274Ser LB/B rs10845349 - PRB2 P02812 VAR_061693 p.Gln233Arg LB/B rs34305575 - PRB3 Q04118 VAR_019696 p.Arg49Cys LB/B - - PRB3 Q04118 VAR_055032 p.Pro207Gln LB/B rs113564509 - PRB4 P10163 VAR_031548 p.Arg185Gly LB/B rs11054244 - PRB4 P10163 VAR_031549 p.Pro186Arg LB/B rs11054243 - PRB4 P10163 VAR_031550 p.Pro200His LB/B rs12308244 - PRB4 P10163 VAR_031551 p.Ala272Pro LB/B rs1052808 - PRC1 O43663 VAR_047768 p.Ala187Glu LB/B rs7172758 - PRC1 O43663 VAR_047769 p.Tyr511Cys LB/B rs12911192 - PRCC Q92733 VAR_024341 p.Pro136Ser LB/B rs11264542 - PRCD Q00LT1 VAR_031122 p.Cys2Tyr LP/P rs121918369 Retinitis pigmentosa 36 (RP36) [MIM:610599] PRCD Q00LT1 VAR_031123 p.Arg17Cys LB/B rs375181336 - PRCD Q00LT1 VAR_031124 p.Val30Met US rs767439982 Retinitis pigmentosa 36 (RP36) [MIM:610599] PRCD Q00LT1 VAR_078540 p.Pro25Thr LP/P - Retinitis pigmentosa 36 (RP36) [MIM:610599] PRCP P42785 VAR_020464 p.Glu112Asp LB/B rs2229437 - PRCP P42785 VAR_029329 p.Thr444Ser LB/B rs2228312 - PRDM1 O75626 VAR_019983 p.Gly74Ser LB/B rs2185379 - PRDM1 O75626 VAR_024221 p.Asp203Glu LB/B rs811925 - PRDM1 O75626 VAR_083591 p.Pro84Arg US - - PRDM1 O75626 VAR_083592 p.Ile107Arg US - - PRDM10 Q9NQV6 VAR_019984 p.Thr573Ala LB/B rs2241571 - PRDM10 Q9NQV6 VAR_054418 p.Ala22Thr LB/B rs11221912 - PRDM10 Q9NQV6 VAR_088741 p.Cys677Tyr LP/P - Birt-Hogg-Dube syndrome 2 (BHD2) [MIM:620459] PRDM11 Q9NQV5 VAR_073689 p.Lys200Glu US rs111724149 A patient with diffuse large B-cell lymphoma PRDM11 Q9NQV5 VAR_073690 p.Arg285Ser US rs35090414 A patient with diffuse large B-cell lymphoma PRDM12 Q9H4Q4 VAR_074617 p.Asp31Tyr LP/P rs879255637 Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488] PRDM12 Q9H4Q4 VAR_074618 p.Ile102Asn LP/P rs879255636 Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488] PRDM12 Q9H4Q4 VAR_074619 p.Trp160Cys LP/P - Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488] PRDM12 Q9H4Q4 VAR_074620 p.Arg168Cys LP/P rs767397937 Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488] PRDM12 Q9H4Q4 VAR_074621 p.Glu172Asp LP/P rs755205487 Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488] PRDM12 Q9H4Q4 VAR_074622 p.His289Leu LP/P rs879255638 Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488] PRDM13 Q9H4Q3 VAR_087006 p.His619Leu US rs1173266789 Pontocerebellar hypoplasia 17 (PCH17) [MIM:619909] PRDM14 Q9GZV8 VAR_021895 p.Lys244Glu LB/B rs3750228 - PRDM15 P57071 VAR_014992 p.Val1342Ile LB/B rs3819158 - PRDM15 P57071 VAR_014993 p.Thr1376Ser LB/B rs2236695 - PRDM15 P57071 VAR_014994 p.Ser1481Pro LB/B rs3850706 - PRDM16 Q9HAZ2 VAR_031433 p.Ser533Pro LB/B rs870124 - PRDM16 Q9HAZ2 VAR_031434 p.Pro633Leu LB/B rs2493292 - PRDM16 Q9HAZ2 VAR_070212 p.Glu271Lys US rs200052869 Cardiomyopathy, dilated, 1LL (CMD1LL) [MIM:615373] PRDM16 Q9HAZ2 VAR_070213 p.Pro291Leu US rs397514744 Cardiomyopathy, dilated, 1LL (CMD1LL) [MIM:615373] PRDM16 Q9HAZ2 VAR_070214 p.Asn816Ser LP/P rs397514743 Left ventricular non-compaction 8 (LVNC8) [MIM:615373] PRDM16 Q9HAZ2 VAR_070215 p.Leu887Pro US rs202115331 Cardiomyopathy, dilated, 1LL (CMD1LL) [MIM:615373] PRDM16 Q9HAZ2 VAR_070216 p.Val1101Met LB/B rs201654872 - PRDM2 Q13029 VAR_052929 p.Asp283Glu LB/B rs2076324 - PRDM2 Q13029 VAR_052930 p.Ser450Asn LB/B rs17350795 - PRDM5 Q9NQX1 VAR_066393 p.Tyr107Cys LP/P rs387907111 Brittle cornea syndrome 2 (BCS2) [MIM:614170] PRDM6 Q9NQX0 VAR_077014 p.Cys263Ser US rs879255279 Patent ductus arteriosus 3 (PDA3) [MIM:617039] PRDM6 Q9NQX0 VAR_077015 p.Gln462Arg LP/P rs879253872 Patent ductus arteriosus 3 (PDA3) [MIM:617039] PRDM6 Q9NQX0 VAR_077016 p.Arg549Gln LP/P rs879255278 Patent ductus arteriosus 3 (PDA3) [MIM:617039] PRDM7 Q9NQW5 VAR_057461 p.Asp90Glu LB/B rs12925933 - PRDM7 Q9NQW5 VAR_057462 p.Arg131Lys LB/B rs2078478 - PRDM7 Q9NQW5 VAR_057463 p.Asn435Lys LB/B rs7206111 - PRDM8 Q9NQV8 VAR_075044 p.Phe261Leu LP/P rs863225286 Epilepsy, progressive myoclonic 10 (EPM10) [MIM:616640] PRDM9 Q9NQV7 VAR_054417 p.Tyr335His US - - PRDM9 Q9NQV7 VAR_082281 p.Thr681Ser LB/B rs6875787 - PRDM9 Q9NQV7 VAR_082282 p.Lys788Glu LB/B rs146505774 - PRDM9 Q9NQV7 VAR_082283 p.Asn790His LB/B rs77287813 - PRDM9 Q9NQV7 VAR_082284 p.Ser814Arg LB/B rs1445421439 - PRDX1 Q06830 VAR_025050 p.Arg62Gly LB/B rs34034070 - PRDX2 P32119 VAR_025051 p.Asp153Glu LB/B rs34012472 - PRDX3 P30048 VAR_025052 p.Ser55Arg LB/B rs34698541 - PRDX3 P30048 VAR_025053 p.Ala218Thr LB/B rs36064375 - PRDX3 P30048 VAR_025054 p.Thr234Ile LB/B rs35697338 - PRDX3 P30048 VAR_059546 p.Arg170Gln LB/B rs11554902 - PRDX3 P30048 VAR_087329 p.Ala142Gly US rs202061531 Spinocerebellar ataxia, autosomal recessive, 32 (SCAR32) [MIM:619862] PRDX3 P30048 VAR_087331 p.Asp190His LP/P - Corneal dystrophy, punctiform and polychromatic pre-Descemet (PPPCD) [MIM:619871] PRDX3 P30048 VAR_087332 p.Asp202Asn LP/P rs548327727 Spinocerebellar ataxia, autosomal recessive, 32 (SCAR32) [MIM:619862] PRDX5 P30044 VAR_025049 p.Tyr33Cys LB/B rs7938623 - PRDX5 P30044 VAR_036406 p.Phe157Leu US - A breast cancer sample PRELID2 Q8N945 VAR_053910 p.Asn99Ser LB/B rs9324996 - PRELP P51888 VAR_011976 p.Asn348His LB/B rs9439 - PRELP P51888 VAR_052012 p.Met157Val LB/B rs2233726 - PRELP P51888 VAR_052013 p.Asn334Ser LB/B rs2233732 - PRELP P51888 VAR_061804 p.Gly33Arg LB/B rs41313926 - PREP P48147 VAR_047790 p.Leu351Val LB/B rs12192054 - PREP P48147 VAR_047791 p.Val706Ile LB/B rs1051484 - PREX1 Q8TCU6 VAR_023210 p.Val1240Ile LB/B rs16993997 - PREX1 Q8TCU6 VAR_023211 p.Lys1340Glu LB/B rs2664521 - PREX1 Q8TCU6 VAR_023212 p.Ser1559Thr LB/B rs3936192 - PREX1 Q8TCU6 VAR_057191 p.Arg696Cys LB/B rs7271583 - PREX1 Q8TCU6 VAR_057192 p.Ala1118Thr LB/B rs6012504 - PREX1 Q8TCU6 VAR_061798 p.Val659Met LB/B rs55904123 - PREX1 Q8TCU6 VAR_061799 p.Gln786His LB/B rs41283558 - PREX2 Q70Z35 VAR_032163 p.Asp312Asn LB/B rs11784582 - PREX2 Q70Z35 VAR_035973 p.Val537Ile US rs147538692 A colorectal cancer sample PREX2 Q70Z35 VAR_035974 p.Ala1571Glu US - A colorectal cancer sample PRF1 P14222 VAR_010744 p.Val183Gly LP/P rs104894183 Hemophagocytic lymphohistiocytosis, familial, 2 (FHL2) [MIM:603553] PRF1 P14222 VAR_010745 p.Arg225Trp LP/P rs28933973 Hemophagocytic lymphohistiocytosis, familial, 2 (FHL2) [MIM:603553] PRF1 P14222 VAR_010746 p.Asn252Ser LP/P rs28933375 Hemophagocytic lymphohistiocytosis, familial, 2 (FHL2) [MIM:603553] PRF1 P14222 VAR_010747 p.Cys279Tyr LP/P rs104894182 Hemophagocytic lymphohistiocytosis, familial, 2 (FHL2) [MIM:603553] PRF1 P14222 VAR_010748 p.Pro345Leu LP/P rs28933374 Hemophagocytic lymphohistiocytosis, familial, 2 (FHL2) [MIM:603553] PRF1 P14222 VAR_010749 p.Gly429Glu LP/P rs104894181 Hemophagocytic lymphohistiocytosis, familial, 2 (FHL2) [MIM:603553] PRF1 P14222 VAR_010772 p.Val50Met LP/P rs776299562 Hemophagocytic lymphohistiocytosis, familial, 2 (FHL2) [MIM:603553] PRF1 P14222 VAR_010773 p.Arg123His LB/B rs139336186 - PRF1 P14222 VAR_010774 p.Ile224Asn LP/P - Hemophagocytic lymphohistiocytosis, familial, 2 (FHL2) [MIM:603553] PRF1 P14222 VAR_029773 p.Val135Met LB/B rs12263572 - PRF1 P14222 VAR_050482 p.Ala91Val LB/B rs35947132 - PRF1 P14222 VAR_061504 p.Arg4His LB/B rs35418374 - PRG2 P13727 VAR_036401 p.Arg179Cys US rs142359007 A colorectal cancer sample PRG2 P13727 VAR_060729 p.His206Tyr LB/B rs536455 - PRG3 Q9Y2Y8 VAR_050117 p.Cys3Arg LB/B rs669661 - PRG3 Q9Y2Y8 VAR_050118 p.Ile109Thr LB/B rs540687 - PRG4 Q92954 VAR_024023 p.Arg180Trp LB/B rs2273779 - PRG4 Q92954 VAR_051559 p.Asn1130Ser LB/B rs10158395 - PRG4 Q92954 VAR_051560 p.Ile1272Thr LB/B rs1293985 - PRG4 Q92954 VAR_051561 p.Thr1296Met LB/B rs12134934 - PRH1 P02810 VAR_005563 p.Asp20Asn LB/B rs1130404 - PRH1 P02810 VAR_005564 p.Asn66Asp LB/B rs1049112 - PRH1 P02810 VAR_005565 p.Gln163Lys LB/B rs74062407 - PRH1 P02810 VAR_023240 p.Ile42Leu LB/B rs2923234 - PRH1 P02810 VAR_023242 p.Arg119Cys LB/B rs200488155 - PRICKLE1 Q96MT3 VAR_054663 p.Arg104Gln LP/P rs113994140 Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437] PRICKLE1 Q96MT3 VAR_056164 p.Pro746Ser LB/B rs3827522 - PRICKLE1 Q96MT3 VAR_065580 p.Arg144His LP/P rs281865563 Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437] PRICKLE1 Q96MT3 VAR_065581 p.Tyr472His LP/P rs281865564 Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437] PRICKLE1 Q96MT3 VAR_066850 p.Ile69Thr LB/B rs141795695 - PRICKLE1 Q96MT3 VAR_066851 p.Asn81His LB/B rs796052934 - PRICKLE1 Q96MT3 VAR_066852 p.Val121Ile LB/B rs371720624 - PRICKLE1 Q96MT3 VAR_066853 p.Ala124Thr LB/B rs79087668 - PRICKLE1 Q96MT3 VAR_066854 p.Thr275Met LB/B rs559947948 - PRICKLE1 Q96MT3 VAR_066855 p.Arg682Cys LB/B rs768954477 - PRICKLE1 Q96MT3 VAR_066856 p.Ser739Phe LB/B rs138452760 - PRICKLE1 Q96MT3 VAR_066857 p.Asp771Asn LB/B rs146670726 - PRICKLE1 Q96MT3 VAR_066858 p.Ser799Cys US - - PRICKLE2 Q7Z3G6 VAR_065582 p.Arg148His US rs387906988 - PRICKLE2 Q7Z3G6 VAR_065583 p.Val153Ile US rs139747674 - PRICKLE2 Q7Z3G6 VAR_065584 p.Val605Phe US rs387906989 - PRICKLE3 O43900 VAR_036188 p.Glu558Asp US - A breast cancer sample PRICKLE3 O43900 VAR_050169 p.Arg343Cys LB/B rs7065449 - PRICKLE3 O43900 VAR_084628 p.Arg53Trp LP/P - Leber hereditary optic neuropathy, modifier (LOAM) [MIM:308905] PRICKLE4 Q2TBC4 VAR_056165 p.Ser266Arg LB/B rs28403585 - PRIM1 P49642 VAR_021898 p.Asp5Ala LB/B rs2277339 - PRIM1 P49642 VAR_087657 p.Cys301Arg LP/P - Primordial dwarfism-immunodeficiency-lipodystrophy syndrome (PDIL) [MIM:620005] PRIM2 P49643 VAR_051506 p.Gln265Leu LB/B rs3763183 - PRIM2 P49643 VAR_059742 p.Glu181Lys LB/B rs5011403 - PRIM2 P49643 VAR_059743 p.Asp204Gly LB/B rs6913546 - PRIM2 P49643 VAR_059744 p.Gly259Ser LB/B rs927192 - PRIM2 P49643 VAR_059745 p.Cys287Tyr LB/B rs9476080 - PRIM2 P49643 VAR_059747 p.Gln446His LB/B rs4294007 - PRIM2 P49643 VAR_059748 p.Pro465Ser LB/B rs1419333837 - PRIMA1 Q86XR5 VAR_035980 p.Ala22Val US - A colorectal cancer sample PRIMPOL Q96LW4 VAR_030878 p.Arg168Gln LB/B rs2463447 - PRIMPOL Q96LW4 VAR_030879 p.Thr505Lys LB/B rs14969 - PRIMPOL Q96LW4 VAR_070120 p.Tyr89Asp LP/P rs200857997 Myopia 22, autosomal dominant (MYP22) [MIM:615420] PRKAA1 Q13131 VAR_035622 p.Gln16Arg US rs928784854 A breast cancer sample PRKAA1 Q13131 VAR_058401 p.Met10Leu LB/B rs17855679 - PRKAA2 P54646 VAR_035623 p.Pro371Thr US - Breast cancer samples PRKAA2 P54646 VAR_035624 p.Ser523Gly US - A breast cancer sample PRKAA2 P54646 VAR_040355 p.Arg407Gln US - A gastric adenocarcinoma sample PRKACA P17612 VAR_040591 p.Leu41Val LB/B rs56029020 - PRKACA P17612 VAR_040592 p.Arg46Gln LB/B rs56085217 - PRKACA P17612 VAR_040593 p.Ser264Cys LB/B rs35635531 - PRKACA P17612 VAR_071707 p.Leu206Arg LP/P rs386352352 Primary pigmented nodular adrenocortical disease 4 (PPNAD4) [MIM:615830] PRKACA P17612 VAR_085198 p.Gly137Arg LP/P - Cardioacrofacial dysplasia 1 (CAFD1) [MIM:619142] PRKACB P22694 VAR_040594 p.Arg106Gln LB/B rs36117118 - PRKACB P22694 VAR_085199 p.Ser54Leu LP/P rs1663748771 Cardioacrofacial dysplasia 2 (CAFD2) [MIM:619143] PRKACB P22694 VAR_085200 p.His88Asn LP/P - Cardioacrofacial dysplasia 2 (CAFD2) [MIM:619143] PRKACB P22694 VAR_085201 p.His88Arg LP/P rs768056300 Cardioacrofacial dysplasia 2 (CAFD2) [MIM:619143] PRKACB P22694 VAR_085202 p.Gly235Arg LP/P rs1670492319 Cardioacrofacial dysplasia 2 (CAFD2) [MIM:619143] PRKACG P22612 VAR_033902 p.His268Asp LB/B rs3730386 - PRKACG P22612 VAR_040595 p.Ile251Asn LB/B rs56287972 - PRKACG P22612 VAR_072672 p.Ile74Met LP/P rs724159972 Bleeding disorder, platelet-type, 19 (BDPLT19) [MIM:616176] PRKAG1 P54619 VAR_033453 p.Thr89Ser LB/B rs1126930 - PRKAG1 P54619 VAR_033454 p.Lys329Asn LB/B rs34210356 - PRKAG2 Q9UGJ0 VAR_013264 p.Arg302Gln LP/P rs121908987 Cardiomyopathy, familial hypertrophic, 6 (CMH6) [MIM:600858] PRKAG2 Q9UGJ0 VAR_013264 p.Arg302Gln LP/P rs121908987 Wolff-Parkinson-White syndrome (WPW) [MIM:194200] PRKAG2 Q9UGJ0 VAR_013266 p.His383Arg LP/P rs121908988 Cardiomyopathy, familial hypertrophic, 6 (CMH6) [MIM:600858] PRKAG2 Q9UGJ0 VAR_013267 p.Thr400Asn LP/P rs28938173 Cardiomyopathy, familial hypertrophic, 6 (CMH6) [MIM:600858] PRKAG2 Q9UGJ0 VAR_013268 p.Asn488Ile LP/P rs121908989 Cardiomyopathy, familial hypertrophic, 6 (CMH6) [MIM:600858] PRKAG2 Q9UGJ0 VAR_013269 p.Arg531Gln LP/P rs121908991 Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740] PRKAG2 Q9UGJ0 VAR_032909 p.Arg531Gly LP/P rs121908990 Wolff-Parkinson-White syndrome (WPW) [MIM:194200] PRKAG2 Q9UGJ0 VAR_048250 p.Met6Leu LB/B rs3207363 - PRKAG3 Q9UGI9 VAR_023484 p.Pro71Ala LB/B rs692243 - PRKAG3 Q9UGI9 VAR_048251 p.Leu153Val LB/B rs35050588 - PRKAG3 Q9UGI9 VAR_048252 p.Arg340Trp LB/B rs33985460 - PRKAG3 Q9UGI9 VAR_069470 p.Glu76Gln LB/B rs864622003 - PRKAG3 Q9UGI9 VAR_069471 p.Asp103Gly LB/B rs371222838 - PRKAG3 Q9UGI9 VAR_069472 p.Gly113Val LB/B rs864622004 - PRKAG3 Q9UGI9 VAR_069473 p.Leu161Pro LB/B rs962993719 - PRKAG3 Q9UGI9 VAR_069474 p.Gly171Ser LB/B rs200004875 - PRKAG3 Q9UGI9 VAR_069475 p.Gly180Ser LB/B rs372752820 - PRKAG3 Q9UGI9 VAR_069476 p.Met197Thr LB/B rs776255177 - PRKAG3 Q9UGI9 VAR_069477 p.Glu211Gln LB/B rs776263291 - PRKAG3 Q9UGI9 VAR_069478 p.Arg225Gln LB/B rs370008874 - PRKAG3 Q9UGI9 VAR_069479 p.Arg225Trp LB/B rs138130157 - PRKAG3 Q9UGI9 VAR_069480 p.Gln260Arg LB/B rs41272689 - PRKAG3 Q9UGI9 VAR_069481 p.Ile269Thr LB/B rs367916025 - PRKAG3 Q9UGI9 VAR_069482 p.Arg307Cys LB/B rs864622005 - PRKAG3 Q9UGI9 VAR_069483 p.Arg340Gln LB/B rs551272603 - PRKAG3 Q9UGI9 VAR_069484 p.Arg446Met LB/B rs200750014 - PRKAG3 Q9UGI9 VAR_069485 p.Ala482Val LB/B rs34720726 - PRKAG3 Q9UGI9 VAR_069486 p.Asp485Asn LB/B rs149508864 - PRKAR1A P10644 VAR_046894 p.Ser9Asn LP/P - Carney complex 1 (CNC1) [MIM:160980] PRKAR1A P10644 VAR_046895 p.Arg74Cys LP/P rs137853303 Carney complex 1 (CNC1) [MIM:160980] PRKAR1A P10644 VAR_046896 p.Arg146Ser LP/P - Carney complex 1 (CNC1) [MIM:160980] PRKAR1A P10644 VAR_046897 p.Asp183Tyr LP/P - Carney complex 1 (CNC1) [MIM:160980] PRKAR1A P10644 VAR_046898 p.Ala213Asp LP/P rs281864786 Carney complex 1 (CNC1) [MIM:160980] PRKAR1A P10644 VAR_046899 p.Gly289Trp LP/P - Carney complex 1 (CNC1) [MIM:160980] PRKAR1A P10644 VAR_068241 p.Tyr373His LP/P rs387906693 Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] PRKAR1A P10644 VAR_069456 p.Ala213Thr LP/P - Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] PRKAR1A P10644 VAR_069457 p.Asp227Asn LB/B - - PRKAR1A P10644 VAR_069458 p.Thr239Ala LP/P - Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] PRKAR1A P10644 VAR_069459 p.Gln285Arg LP/P rs1555814719 Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] PRKAR1A P10644 VAR_069460 p.Gly289Glu LP/P - Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] PRKAR1A P10644 VAR_069461 p.Ile327Thr LP/P rs387906695 Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] PRKAR1A P10644 VAR_069462 p.Ala328Val LP/P - Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] PRKAR1A P10644 VAR_069463 p.Arg335Pro LP/P rs387906694 Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] PRKAR1A P10644 VAR_069464 p.Arg335Leu LP/P - Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] PRKAR1A P10644 VAR_069465 p.Tyr373Cys LP/P - Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] PRKAR1A P10644 VAR_075533 p.Tyr175Cys LP/P - Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] PRKAR1B P31321 VAR_086687 p.Gln167Leu US - Marbach-Schaaf neurodevelopmental syndrome (MASNS) [MIM:619680] PRKAR1B P31321 VAR_086688 p.Glu196Lys LP/P - Marbach-Schaaf neurodevelopmental syndrome (MASNS) [MIM:619680] PRKAR1B P31321 VAR_086689 p.Arg335Trp LP/P - Marbach-Schaaf neurodevelopmental syndrome (MASNS) [MIM:619680] PRKAR2B P31323 VAR_046549 p.Glu335Asp LB/B rs3729881 - PRKCA P17252 VAR_042301 p.Pro98Ser US - A colorectal adenocarcinoma sample PRKCA P17252 VAR_042302 p.Asp467Asn US - A glioblastoma multiforme sample PRKCA P17252 VAR_042303 p.Met489Val LB/B rs34406842 - PRKCA P17252 VAR_050558 p.Val568Ile LB/B rs6504459 - PRKCB P05771 VAR_042304 p.Val144Met US rs764534677 A colorectal adenocarcinoma sample PRKCB P05771 VAR_042305 p.Val496Met US rs1466858740 A glioblastoma multiforme sample PRKCB P05771 VAR_042306 p.Pro588His LB/B rs35631544 - PRKCD Q05655 VAR_006175 p.Phe375Ser LB/B rs1056998 - PRKCD Q05655 VAR_006176 p.Val593Met LB/B - - PRKCD Q05655 VAR_020610 p.Met494Val LB/B - - PRKCD Q05655 VAR_035347 p.Asn348Ser LB/B rs33911937 - PRKCD Q05655 VAR_035348 p.Leu410Phe LB/B rs34502209 - PRKCD Q05655 VAR_046009 p.Arg483Trp LB/B rs35891605 - PRKCE Q02156 VAR_035466 p.Glu143Lys US rs772834505 A colorectal cancer sample PRKCE Q02156 VAR_042307 p.Ala333Val LB/B rs55989965 - PRKCE Q02156 VAR_042308 p.Pro389Arg LB/B rs55767130 - PRKCE Q02156 VAR_042309 p.Thr563Met LB/B rs34077350 - PRKCE Q02156 VAR_050559 p.Ala654Thr LB/B rs35777875 - PRKCG P05129 VAR_008755 p.Arg141Cys LB/B - - PRKCG P05129 VAR_008756 p.His415Gln LB/B - - PRKCG P05129 VAR_008757 p.Ala523Asp LB/B - - PRKCG P05129 VAR_008758 p.Arg659Ser LB/B rs752933837 - PRKCG P05129 VAR_017060 p.His101Tyr LP/P rs121918511 Spinocerebellar ataxia 14 (SCA14) [MIM:605361] PRKCG P05129 VAR_017061 p.Ser119Pro LP/P rs121918512 Spinocerebellar ataxia 14 (SCA14) [MIM:605361] PRKCG P05129 VAR_017062 p.Gly128Asp LP/P rs121918513 Spinocerebellar ataxia 14 (SCA14) [MIM:605361] PRKCG P05129 VAR_080740 p.Gly63Arg LP/P - Spinocerebellar ataxia 14 (SCA14) [MIM:605361] PRKCG P05129 VAR_080741 p.Gly63Val LP/P rs386134159 Spinocerebellar ataxia 14 (SCA14) [MIM:605361] PRKCH P24723 VAR_034604 p.Val374Ile LB/B rs2230500 - PRKCH P24723 VAR_042312 p.Ala19Val LB/B rs55645551 - PRKCH P24723 VAR_042313 p.Lys65Arg LB/B rs55737090 - PRKCH P24723 VAR_042314 p.Arg149Gln LB/B rs55848048 - PRKCH P24723 VAR_042315 p.Arg359Gln LB/B rs55818778 - PRKCH P24723 VAR_042316 p.Thr575Ala LB/B rs1378993559 - PRKCH P24723 VAR_042317 p.Thr594Ile US - A colorectal adenocarcinoma sample PRKCH P24723 VAR_042318 p.Pro612Ser LB/B rs34159231 - PRKCH P24723 VAR_042438 p.Asp645Val LB/B rs35561533 - PRKCH P24723 VAR_060736 p.Asp497Tyr LB/B rs11846991 - PRKCI P41743 VAR_042322 p.Pro118Leu US - A metastatic melanoma sample PRKCI P41743 VAR_042323 p.Arg130Cys LB/B rs56154494 - PRKCQ Q04759 VAR_020401 p.Pro330Leu LB/B rs2236379 - PRKCQ Q04759 VAR_042319 p.Lys240Asn US - A colorectal adenocarcinoma sample PRKCQ Q04759 VAR_042320 p.Asp306Val LB/B rs45590231 - PRKCQ Q04759 VAR_042321 p.Asp354Asn LB/B rs34524148 - PRKCSH P14314 VAR_028761 p.Ser74Asn LB/B rs10406672 - PRKCSH P14314 VAR_028762 p.Ala291Thr LB/B rs11557488 - PRKCSH P14314 VAR_048658 p.Ala338Gly LB/B rs35847588 - PRKCZ Q05513 VAR_035467 p.Ser514Phe US - A colorectal cancer sample PRKCZ Q05513 VAR_042310 p.Arg84His LB/B rs56017162 - PRKCZ Q05513 VAR_042311 p.Arg519Cys US rs376894109 A colorectal adenocarcinoma sample PRKCZ Q05513 VAR_050560 p.Arg49His LB/B rs35271800 - PRKD1 Q15139 VAR_035468 p.His152Tyr US rs1383618278 A colorectal cancer sample PRKD1 Q15139 VAR_035469 p.Glu857Lys US - A colorectal cancer sample PRKD1 Q15139 VAR_042324 p.Ser225Pro LB/B - - PRKD1 Q15139 VAR_042325 p.Lys478Gln LB/B rs55852813 - PRKD1 Q15139 VAR_042326 p.Pro585Ser US - A metastatic melanoma sample PRKD1 Q15139 VAR_042327 p.Arg677Met US - A lung bronchoalveolar carcinoma sample PRKD1 Q15139 VAR_042328 p.Pro679Leu LB/B rs34588699 - PRKD1 Q15139 VAR_042329 p.His891Arg LB/B rs45582934 - PRKD1 Q15139 VAR_046988 p.Arg825Lys LB/B rs11161065 - PRKD1 Q15139 VAR_078602 p.Leu299Trp LP/P rs1057519636 Congenital heart defects and ectodermal dysplasia (CHDED) [MIM:617364] PRKD1 Q15139 VAR_078603 p.Gly592Arg LP/P rs1057519635 Congenital heart defects and ectodermal dysplasia (CHDED) [MIM:617364] PRKD2 Q9BZL6 VAR_042330 p.Val324Met LB/B rs45455991 - PRKD2 Q9BZL6 VAR_042331 p.Ala496Val LB/B rs55716765 - PRKD2 Q9BZL6 VAR_042332 p.Ser604Gly LB/B rs34325043 - PRKD2 Q9BZL6 VAR_042333 p.Trp773Arg LB/B rs55933311 - PRKD2 Q9BZL6 VAR_042334 p.Gly848Glu US - A lung adenocarcinoma sample PRKD2 Q9BZL6 VAR_042335 p.Gly870Glu US - A gastric adenocarcinoma sample PRKD2 Q9BZL6 VAR_061531 p.Ala835Val LB/B rs314665 - PRKD3 O94806 VAR_037147 p.Asn42Asp LB/B rs11896614 - PRKD3 O94806 VAR_037148 p.Ala128Thr LB/B rs17852819 - PRKD3 O94806 VAR_037149 p.Gln546Arg LB/B rs17856887 - PRKD3 O94806 VAR_042336 p.Val716Met US - A glioblastoma multiforme sample PRKD3 O94806 VAR_050561 p.Pro225Ser LB/B rs34280934 - PRKD3 O94806 VAR_061532 p.Leu445Ile LB/B rs55912911 - PRKDC P78527 VAR_019179 p.Ala6Ser LB/B rs8177999 - PRKDC P78527 VAR_019180 p.Met333Ile LB/B rs8178017 - PRKDC P78527 VAR_019181 p.Thr605Ser LB/B rs8178033 - PRKDC P78527 VAR_019182 p.Ile680Met LB/B rs8178040 - PRKDC P78527 VAR_019183 p.Pro695Ser LB/B rs8178046 - PRKDC P78527 VAR_019184 p.Asn1071Ser LB/B rs8178070 - PRKDC P78527 VAR_019185 p.Gly1314Val LB/B rs8178090 - PRKDC P78527 VAR_019186 p.Asp1588Val LB/B rs8178104 - PRKDC P78527 VAR_019187 p.Gln1603His LB/B rs8178106 - PRKDC P78527 VAR_019188 p.Ala2095Val LB/B rs8178147 - PRKDC P78527 VAR_019189 p.Lys2702Glu LB/B rs8178178 - PRKDC P78527 VAR_019190 p.Arg2899Cys LB/B rs4278157 - PRKDC P78527 VAR_019191 p.Gly3149Asp LB/B rs8178208 - PRKDC P78527 VAR_019192 p.Pro3201Ser LB/B rs8178216 - PRKDC P78527 VAR_019193 p.Gly3404Glu LB/B rs8178225 - PRKDC P78527 VAR_019194 p.Ile3434Thr LB/B rs7830743 - PRKDC P78527 VAR_019195 p.Asn3459Ser LB/B rs8178228 - PRKDC P78527 VAR_019196 p.Leu3562Met LB/B rs8178232 - PRKDC P78527 VAR_019197 p.Pro3836Leu LB/B rs8178245 - PRKDC P78527 VAR_019198 p.Met3932Val LB/B rs8178248 - PRKDC P78527 VAR_041602 p.Lys263Asn US rs758032015 A lung adenocarcinoma sample PRKDC P78527 VAR_041603 p.Val420Ile LB/B rs55925466 - PRKDC P78527 VAR_041604 p.Gly500Ser US - A metastatic melanoma sample PRKDC P78527 VAR_041605 p.Phe649Leu LB/B rs55811715 - PRKDC P78527 VAR_041606 p.Arg1136His US rs781401034 A colorectal adenocarcinoma sample PRKDC P78527 VAR_041607 p.Leu1190Val LB/B rs34598508 - PRKDC P78527 VAR_041608 p.Ala1237Thr LB/B rs191531119 - PRKDC P78527 VAR_041609 p.Leu1279Phe LB/B - - PRKDC P78527 VAR_041610 p.Arg1447Met US - A lung squamous cell carcinoma sample PRKDC P78527 VAR_041611 p.Ala1619Gly LB/B rs56182356 - PRKDC P78527 VAR_041612 p.Ala1680Val US rs55735910 A metastatic melanoma sample PRKDC P78527 VAR_041613 p.Ser2023Pro LB/B rs56042895 - PRKDC P78527 VAR_041614 p.Arg2598Gln LB/B rs55923149 - PRKDC P78527 VAR_041615 p.Ser2810Asn US - A metastatic melanoma sample PRKDC P78527 VAR_041616 p.Gly2941Ala US - A lung neuroendocrine carcinoma sample PRKDC P78527 VAR_041617 p.Glu3085Asp LB/B rs56135402 - PRKDC P78527 VAR_041618 p.Thr3198Ser LB/B rs55793951 - PRKDC P78527 VAR_041619 p.Leu3584Phe LB/B rs55866966 - PRKDC P78527 VAR_041620 p.Leu3800Ile LB/B rs56216442 - PRKDC P78527 VAR_041621 p.Gly3936Ser LB/B rs55670423 - PRKDC P78527 VAR_041622 p.Val3937Met LB/B rs56090750 - PRKDC P78527 VAR_050534 p.Pro3702Leu LB/B rs8178236 - PRKDC P78527 VAR_072569 p.Leu3062Arg LP/P rs587777685 Immunodeficiency 26 with or without neurologic abnormalities (IMD26) [MIM:615966] PRKDC P78527 VAR_072570 p.Ala3574Val LP/P rs587777686 Immunodeficiency 26 with or without neurologic abnormalities (IMD26) [MIM:615966] PRKG1 Q13976 VAR_046773 p.Ile249Val LB/B rs56082459 - PRKG1 Q13976 VAR_051632 p.Asn267Ser LB/B rs34997494 - PRKG1 Q13976 VAR_070434 p.Arg177Gln LP/P rs397515330 Aortic aneurysm, familial thoracic 8 (AAT8) [MIM:615436] PRKG1 Q13976 VAR_070435 p.Tyr474Phe LB/B rs149710600 - PRKG1 Q13976 VAR_070436 p.Gly666Ala LB/B rs750949508 - PRKG2 Q13237 VAR_040608 p.His106Arg LB/B rs34616910 - PRKG2 Q13237 VAR_040609 p.Trp716Arg US - A colorectal adenocarcinoma sample PRKG2 Q13237 VAR_051633 p.Thr22Ser LB/B rs34956759 - PRKN O60260 VAR_019733 p.Val15Met LP/P rs532703934 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019734 p.Arg33Gln LP/P rs147757966 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019735 p.Pro37Leu LP/P rs148990138 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019736 p.Arg42Pro LP/P rs368134308 Parkinson disease (PARK) [MIM:168600] PRKN O60260 VAR_019736 p.Arg42Pro LP/P rs368134308 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019737 p.Ala46Pro LP/P - Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019738 p.Ala82Glu LP/P rs55774500 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019739 p.Ala92Val LP/P rs566229879 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019740 p.Gln100His LB/B rs1256316516 - PRKN O60260 VAR_019741 p.Lys161Asn LP/P rs137853057 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019742 p.Ser167Asn LB/B rs1801474 - PRKN O60260 VAR_019743 p.Met192Val US rs9456735 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019744 p.Lys211Asn LP/P rs137853060 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019746 p.Cys212Tyr LP/P rs137853058 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019747 p.Thr240Met LP/P rs137853054 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019748 p.Thr240Arg LP/P rs137853054 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019749 p.Cys253Tyr LP/P rs747427602 Parkinson disease (PARK) [MIM:168600] PRKN O60260 VAR_019750 p.Arg256Cys US rs150562946 Parkinson disease (PARK) [MIM:168600] PRKN O60260 VAR_019750 p.Arg256Cys US rs150562946 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019751 p.Arg271Ser LB/B rs772622421 - PRKN O60260 VAR_019752 p.Arg275Trp LP/P rs34424986 Parkinson disease (PARK) [MIM:168600] PRKN O60260 VAR_019752 p.Arg275Trp LP/P rs34424986 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019753 p.Asp280Asn LP/P rs72480422 Parkinson disease (PARK) [MIM:168600] PRKN O60260 VAR_019754 p.Gly284Arg LP/P rs751037529 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019755 p.Cys289Gly LP/P rs55961220 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019756 p.Gly328Glu LP/P - Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019757 p.Arg334Cys LB/B rs199657839 - PRKN O60260 VAR_019758 p.Ala339Ser LB/B rs1554274880 - PRKN O60260 VAR_019759 p.Thr351Pro LP/P rs1554274861 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019760 p.Arg366Trp LB/B rs56092260 - PRKN O60260 VAR_019761 p.Val380Leu LB/B rs1801582 - PRKN O60260 VAR_019762 p.Asp394Asn LB/B rs1801334 - PRKN O60260 VAR_019763 p.Thr415Asn LP/P rs778125254 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019764 p.Gly430Asp LP/P rs191486604 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019765 p.Cys431Phe LP/P rs397514694 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019766 p.Pro437Leu LP/P rs149953814 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_019767 p.Cys441Arg LP/P rs778305273 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_054107 p.Met192Leu US rs9456735 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_062672 p.Gln311Arg US - - PRKN O60260 VAR_062673 p.Ala371Thr US - - PRKN O60260 VAR_070078 p.Val56Glu LP/P rs137853059 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_070079 p.Arg402Cys LP/P rs55830907 Parkinson disease 2 (PARK2) [MIM:600116] PRKN O60260 VAR_070080 p.Cys418Arg LP/P rs1554252200 Parkinson disease 2 (PARK2) [MIM:600116] PRKRA O75569 VAR_046213 p.Pro222Leu LP/P rs121434410 Dystonia 16 (DYT16) [MIM:612067] PRKRIP1 Q9H875 VAR_039882 p.Ser7Ala LB/B rs6951185 - PRKRIP1 Q9H875 VAR_039883 p.Asp106Tyr LB/B rs11556160 - PRKX P51817 VAR_061744 p.Val43Ala LB/B rs3752362 - PRLHR P49683 VAR_023948 p.Ile283Val LB/B rs1613448 - PRLHR P49683 VAR_029746 p.Asp302Gly LB/B rs8192523 - PRLR P16471 VAR_049172 p.Ile100Val LB/B rs2228482 - PRLR P16471 VAR_070894 p.Ile170Leu LP/P rs72478580 Multiple fibroadenomas of the breast (MFAB) [MIM:615554] PRLR P16471 VAR_070895 p.His212Arg LP/P rs398122522 Hyperprolactinemia (HPRL) [MIM:615555] PRM3 Q9NNZ6 VAR_034414 p.Arg100Gln LB/B rs429744 - PRMT1 Q99873 VAR_037501 p.Lys88Met LB/B rs1804486 - PRMT1 Q99873 VAR_037502 p.Leu168Phe LB/B rs11673683 - PRMT3 O60678 VAR_024584 p.Leu440Val LB/B rs3758805 - PRMT3 O60678 VAR_024585 p.Asn508Ser LB/B rs6483700 - PRMT3 O60678 VAR_030943 p.Ser470Cys LB/B rs11025585 - PRMT6 Q96LA8 VAR_057150 p.Ala194Val LB/B rs2232016 - PRMT7 Q9NVM4 VAR_076329 p.Arg32Thr LP/P rs149170494 Short stature, brachydactyly, impaired intellectual developmental, and seizures (SBIDDS) [MIM:617157] PRMT7 Q9NVM4 VAR_076330 p.Arg387Gly LP/P rs762515973 Short stature, brachydactyly, impaired intellectual developmental, and seizures (SBIDDS) [MIM:617157] PRMT7 Q9NVM4 VAR_076331 p.Trp494Arg LP/P rs751670999 Short stature, brachydactyly, impaired intellectual developmental, and seizures (SBIDDS) [MIM:617157] PRMT9 Q6P2P2 VAR_039954 p.Ser483Gly LB/B rs17023638 - PRMT9 Q6P2P2 VAR_039955 p.Cys747Tyr LB/B rs11557361 - PRND Q9UKY0 VAR_013765 p.Thr26Pro LB/B - - PRND Q9UKY0 VAR_013766 p.Pro56Leu LB/B rs35453518 - PRND Q9UKY0 VAR_013767 p.Thr174Met LB/B rs2245220 - PRND Q9UKY0 VAR_013769 p.Ser6Ile LB/B - - PRND Q9UKY0 VAR_013770 p.Ser22Pro LB/B - - PRND Q9UKY0 VAR_013771 p.His31Arg LB/B - - PRND Q9UKY0 VAR_013772 p.Phe70Leu LB/B - - PRND Q9UKY0 VAR_013773 p.Leu149Ser LB/B - - PRNP P04156 VAR_006464 p.Pro102Leu LP/P rs74315401 Gerstmann-Straussler disease (GSD) [MIM:137440] PRNP P04156 VAR_006465 p.Pro105Leu LP/P rs11538758 Gerstmann-Straussler disease (GSD) [MIM:137440] PRNP P04156 VAR_006466 p.Ala117Val LB/B rs74315402 - PRNP P04156 VAR_006467 p.Met129Val LB/B rs1799990 - PRNP P04156 VAR_006468 p.Asn171Ser LB/B rs16990018 - PRNP P04156 VAR_006469 p.Asp178Asn LP/P rs74315403 Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_006469 p.Asp178Asn LP/P rs74315403 Fatal familial insomnia (FFI) [MIM:600072] PRNP P04156 VAR_006470 p.Val180Ile LP/P rs74315408 Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_006471 p.Thr183Ala LP/P rs74315411 Spongiform encephalopathy with neuropsychiatric features (SENF) [MIM:606688] PRNP P04156 VAR_006472 p.Phe198Ser LP/P rs74315405 Gerstmann-Straussler disease (GSD) [MIM:137440] PRNP P04156 VAR_006473 p.Glu200Lys LP/P rs28933385 Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_006474 p.Arg208His LP/P rs74315412 Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_006475 p.Val210Ile LP/P rs74315407 Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_006476 p.Gln217Arg LP/P rs74315406 Gerstmann-Straussler disease (GSD) [MIM:137440] PRNP P04156 VAR_006477 p.Glu219Lys LB/B rs1800014 - PRNP P04156 VAR_006478 p.Met232Arg LP/P rs74315409 Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_008746 p.His187Arg LP/P rs74315413 Gerstmann-Straussler disease (GSD) [MIM:137440] PRNP P04156 VAR_008747 p.Thr188Arg LB/B rs372878791 - PRNP P04156 VAR_008748 p.Thr188Lys US - - PRNP P04156 VAR_008749 p.Glu196Lys LP/P - Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_008750 p.Asp202Asn LP/P rs761807915 Gerstmann-Straussler disease (GSD) [MIM:137440] PRNP P04156 VAR_008751 p.Val203Ile US rs776593792 Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_008752 p.Glu211Gln LP/P rs398122370 Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_008753 p.Gln212Pro LP/P rs751882709 Gerstmann-Straussler disease (GSD) [MIM:137440] PRNP P04156 VAR_008754 p.Pro238Ser LB/B - - PRNP P04156 VAR_014264 p.Gly131Val LP/P rs74315410 Gerstmann-Straussler disease (GSD) [MIM:137440] PRNP P04156 VAR_073722 p.Gly127Val LB/B rs267606980 - PRNT Q86SH4 VAR_039151 p.Thr50Ser LB/B rs7270737 - PROC P04070 VAR_006634 p.Trp14Gly US - - PROC P04070 VAR_006635 p.Arg32Cys LP/P - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006636 p.Arg38Trp LB/B rs769900251 - PROC P04070 VAR_006637 p.Arg42His LB/B rs369504169 - PROC P04070 VAR_006638 p.Arg42Cys LB/B rs774572099 - PROC P04070 VAR_006639 p.Ala43Thr LB/B rs767626189 - PROC P04070 VAR_006640 p.Glu49Asp US - - PROC P04070 VAR_006641 p.Arg51Cys LB/B rs764546127 - PROC P04070 VAR_006642 p.Arg57Trp LP/P rs757583846 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006643 p.Arg57Gly US - - PROC P04070 VAR_006644 p.Arg57Gln LB/B rs574949343 - PROC P04070 VAR_006645 p.Glu62Ala LP/P rs121918148 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006646 p.Val76Met LP/P rs121918149 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006647 p.Gly89Cys US - - PROC P04070 VAR_006648 p.His108Asn LB/B rs200234655 - PROC P04070 VAR_006649 p.Gly109Arg US - - PROC P04070 VAR_006651 p.Gly114Arg LP/P rs374476971 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006652 p.Phe118Leu LB/B rs1553424043 - PROC P04070 VAR_006656 p.Gly145Arg LP/P rs370813536 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006657 p.Cys147Tyr LB/B rs1247269491 - PROC P04070 VAR_006658 p.His149Pro LB/B rs121918159 - PROC P04070 VAR_006659 p.Ser161Arg LB/B rs1433503391 - PROC P04070 VAR_006660 p.Ala178Pro LP/P rs1254257945 Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] PROC P04070 VAR_006661 p.Cys183Arg LB/B rs748920874 - PROC P04070 VAR_006662 p.Arg189Trp LB/B rs146922325 - PROC P04070 VAR_006663 p.Arg194Cys LB/B rs371071104 - PROC P04070 VAR_006664 p.Pro210Leu LP/P rs121918145 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006665 p.Arg211Trp LP/P rs121918143 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006666 p.Arg211Gln LB/B rs199469476 - PROC P04070 VAR_006667 p.Arg220Pro US - - PROC P04070 VAR_006668 p.Arg220Trp LP/P rs121918152 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006669 p.Arg220Gln LP/P rs121918153 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006670 p.Gln226His LB/B rs121918155 - PROC P04070 VAR_006671 p.Ile243Thr LP/P rs774584131 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006672 p.His244Tyr LB/B rs759557871 - PROC P04070 VAR_006673 p.His253Gln LB/B rs1458669732 - PROC P04070 VAR_006674 p.Leu265Phe LB/B rs121918156 - PROC P04070 VAR_006675 p.Arg271Gln LB/B rs752290840 - PROC P04070 VAR_006676 p.Arg271Trp LB/B rs767112991 - PROC P04070 VAR_006677 p.Arg272Cys LP/P rs121918154 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006679 p.Pro289Leu LP/P rs121918151 Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] PROC P04070 VAR_006680 p.Ser294Asn LB/B rs200721675 - PROC P04070 VAR_006681 p.Asn298Asp US - - PROC P04070 VAR_006682 p.Ala301Thr LB/B rs1343264503 - PROC P04070 VAR_006683 p.Ala301Val LB/B rs121918144 - PROC P04070 VAR_006684 p.Ala309Thr LB/B rs121918146 - PROC P04070 VAR_006685 p.Ser312Leu LB/B rs121918160 - PROC P04070 VAR_006686 p.Ser312Pro US - - PROC P04070 VAR_006687 p.Pro321Leu LP/P rs1321566264 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006688 p.Gly324Arg LP/P - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006689 p.Arg328Cys LP/P rs201907715 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006690 p.Arg328His LP/P - Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] PROC P04070 VAR_006691 p.Gly334Ser LP/P rs121918150 Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] PROC P04070 VAR_006692 p.Thr340Met LP/P rs766261022 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006693 p.Gly343Asp US - - PROC P04070 VAR_006695 p.Val367Ala LP/P rs767730328 Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] PROC P04070 VAR_006696 p.Pro369Leu LP/P rs1211098698 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006697 p.Met385Ile LB/B rs1688692415 - PROC P04070 VAR_006698 p.Ala388Thr US - - PROC P04070 VAR_006699 p.Ala388Val LB/B rs769277939 - PROC P04070 VAR_006700 p.Gly392Arg LP/P rs756467027 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006701 p.Arg394Trp LB/B rs759316085 - PROC P04070 VAR_006702 p.Asp401Asn LP/P rs142742242 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006703 p.Gly418Asp LP/P - Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] PROC P04070 VAR_006704 p.Gly423Ser LP/P - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006705 p.Cys426Tyr LP/P - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006706 p.Gly433Ser LB/B rs1266965698 - PROC P04070 VAR_006707 p.Thr436Asn LP/P - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006708 p.Tyr441His LP/P rs753436021 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006709 p.Trp444Cys LP/P rs121918142 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006710 p.Ile445Met LB/B rs121918157 - PROC P04070 VAR_055074 p.Arg42Ser LP/P rs774572099 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_073145 p.Asp77Gly LP/P - Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] PROC P04070 VAR_073146 p.Ala163Glu LP/P - Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] PROC P04070 VAR_073147 p.Ala163Val LP/P - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_074296 p.Lys70Glu LB/B rs199469481 - PROC P04070 VAR_074297 p.Cys106Gly LB/B rs199469479 - PROC P04070 VAR_074298 p.Phe118Ala US - - PROC P04070 VAR_074299 p.Cys175Tyr LB/B rs199469474 - PROC P04070 VAR_074300 p.Phe181Val LB/B rs199469470 - PROC P04070 VAR_074301 p.Ser223Arg LB/B rs199469483 - PROC P04070 VAR_074302 p.Ala240Gly US - - PROC P04070 VAR_074303 p.Asp297His LP/P rs199469471 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_074304 p.Pro317Ser US - - PROC P04070 VAR_074305 p.Glu327Val LB/B rs199469480 - PROC P04070 VAR_074306 p.Thr357Ala US - - PROC P04070 VAR_074307 p.Val420Leu LP/P rs199469472 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROCA1 Q8NCQ7 VAR_043476 p.Asp245Ala LB/B rs1077127 - PROCA1 Q8NCQ7 VAR_043477 p.Glu320Lys LB/B rs3744637 - PROCR Q9UNN8 VAR_012282 p.Ser219Gly LB/B rs867186 - PRODH O43272 VAR_029563 p.Ala167Val LB/B rs761544165 - PRODH O43272 VAR_029564 p.Arg185Gln LB/B rs11913840 - PRODH O43272 VAR_029565 p.Arg185Trp LB/B rs4819756 - PRODH O43272 VAR_029566 p.Leu289Met LP/P rs137852934 Hyperprolinemia 1 (HYRPRO1) [MIM:239500] PRODH O43272 VAR_029567 p.Pro406Leu LB/B rs3970555 - PRODH O43272 VAR_029568 p.Asp426Asn LP/P - Hyperprolinemia 1 (HYRPRO1) [MIM:239500] PRODH O43272 VAR_029569 p.Val427Met LP/P rs2238731 Hyperprolinemia 1 (HYRPRO1) [MIM:239500] PRODH O43272 VAR_029570 p.Arg431His LP/P rs2904552 Hyperprolinemia 1 (HYRPRO1) [MIM:239500] PRODH O43272 VAR_029571 p.Leu441Pro US rs2904551 Hyperprolinemia 1 (HYRPRO1) [MIM:239500] PRODH O43272 VAR_029572 p.Arg453Cys US rs3970559 Hyperprolinemia 1 (HYRPRO1) [MIM:239500] PRODH O43272 VAR_029573 p.Ala455Ser US rs1807467 Hyperprolinemia 1 (HYRPRO1) [MIM:239500] PRODH O43272 VAR_029574 p.Thr466Met LB/B rs2870984 - PRODH O43272 VAR_029575 p.Ala472Thr LP/P rs2870983 Hyperprolinemia 1 (HYRPRO1) [MIM:239500] PRODH O43272 VAR_029576 p.Gln521Glu LB/B rs193919334 - PRODH O43272 VAR_029577 p.Gln521Arg US rs450046 Hyperprolinemia 1 (HYRPRO1) [MIM:239500] PRODH O43272 VAR_029874 p.Thr275Asn LB/B rs5747933 - PRODH O43272 VAR_029875 p.Gly444Asp LB/B rs765090516 - PRODH O43272 VAR_036566 p.Asn488Ser US rs139903009 A breast cancer sample PRODH O43272 VAR_064883 p.Pro8Leu LB/B rs181332931 - PRODH O43272 VAR_064884 p.Gln19Pro LB/B rs2008720 - PRODH O43272 VAR_064885 p.Pro30Ser LB/B rs3815655 - PRODH O43272 VAR_064886 p.Ala58Thr LB/B rs146648839 - PRODH2 Q9UF12 VAR_036852 p.Pro15Arg LB/B rs3848666 - PRODH2 Q9UF12 VAR_036853 p.Arg449Gln LB/B rs3761097 - PROK1 P58294 VAR_053610 p.Val67Ile LB/B rs7514102 - PROK2 Q9HC23 VAR_030955 p.Gly32Arg LP/P rs104893767 Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] PROK2 Q9HC23 VAR_030956 p.Arg73Cys LP/P rs121434272 Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] PROK2 Q9HC23 VAR_069970 p.Ala24Pro LP/P rs587777863 Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] PROK2 Q9HC23 VAR_072177 p.Cys34Tyr LP/P rs587777864 Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] PROK2 Q9HC23 VAR_072178 p.Ile50Met LP/P rs1388290870 Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] PROK2 Q9HC23 VAR_072991 p.Cys46Tyr LP/P rs1427017264 Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] PROKR1 Q8TCW9 VAR_024261 p.Ser40Gly LB/B rs7570797 - PROKR2 Q8NFJ6 VAR_030957 p.Arg85Cys LP/P rs141090506 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030958 p.Arg85His LP/P rs74315418 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030959 p.Arg164Gln LP/P rs751875578 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030960 p.Leu173Arg LP/P rs74315416 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030961 p.Trp178Ser LP/P rs201835496 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030962 p.Gln210Arg LP/P rs74315417 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030963 p.Arg268Cys LP/P rs78861628 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030964 p.Pro290Ser LP/P rs149992595 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030965 p.Met323Ile LP/P rs74315419 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030966 p.Val331Met LP/P rs117106081 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030967 p.Thr335Met LB/B rs755562438 - PROKR2 Q8NFJ6 VAR_069964 p.Val115Met LP/P rs138672528 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_069965 p.Ser202Gly LP/P rs200755554 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_072173 p.Tyr113His LP/P rs202203360 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_072174 p.Ser188Leu LP/P rs376239580 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_072175 p.Arg248Gln LP/P rs376142095 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_072176 p.Arg357Trp LP/P rs375036628 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_072978 p.Val158Ile LP/P rs368732206 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_072979 p.Val334Met LP/P rs371564610 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROM1 O43490 VAR_010382 p.Ala31Gly LB/B - - PROM1 O43490 VAR_010383 p.Ala31Ser LB/B - - PROM1 O43490 VAR_057961 p.Arg373Cys LP/P rs137853006 Cone-rod dystrophy 12 (CORD12) [MIM:612657] PROM1 O43490 VAR_057961 p.Arg373Cys LP/P rs137853006 Macular dystrophy, retinal, 2 (MCDR2) [MIM:608051] PROM1 O43490 VAR_057961 p.Arg373Cys LP/P rs137853006 Stargardt disease 4 (STGD4) [MIM:603786] PROM2 Q8N271 VAR_042749 p.Gln508Arg LB/B rs12992066 - PROP1 O75360 VAR_003768 p.Arg73Cys LP/P rs121917843 Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] PROP1 O75360 VAR_003769 p.Phe117Ile LP/P rs121917840 Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] PROP1 O75360 VAR_003770 p.Arg120Cys LP/P rs121917839 Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] PROP1 O75360 VAR_012746 p.Arg73His LP/P rs121917842 Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] PROP1 O75360 VAR_014531 p.Ala142Thr LB/B rs1800197 - PROP1 O75360 VAR_054972 p.Asn20Ser LB/B rs7445271 - PROP1 O75360 VAR_054973 p.Arg125Trp LP/P rs146918863 Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] PROP1 O75360 VAR_063235 p.Phe88Ser LP/P rs121917841 Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] PROP1 O75360 VAR_063236 p.Arg99Gln LP/P rs137853100 Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] PRORP O15091 VAR_054212 p.Asn437Ser LB/B rs11156878 - PRORP O15091 VAR_086903 p.Asn412Ser LP/P - Combined oxidative phosphorylation deficiency 54 (COXPD54) [MIM:619737] PRORP O15091 VAR_086904 p.Arg421Cys US - Combined oxidative phosphorylation deficiency 54 (COXPD54) [MIM:619737] PRORP O15091 VAR_086905 p.Ala434Asp US - Combined oxidative phosphorylation deficiency 54 (COXPD54) [MIM:619737] PRORP O15091 VAR_086906 p.Arg445Gln LP/P - Combined oxidative phosphorylation deficiency 54 (COXPD54) [MIM:619737] PRORP O15091 VAR_086907 p.Ala485Val LP/P - Combined oxidative phosphorylation deficiency 54 (COXPD54) [MIM:619737] PROS1 P07225 VAR_005566 p.Lys196Glu LP/P rs121918474 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_005567 p.Asn258Ser LP/P rs121918473 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_005568 p.Ser501Pro LB/B rs121918472 - PROS1 P07225 VAR_014116 p.Gly482Cys LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_014117 p.Tyr485Cys LP/P rs1323663956 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_014118 p.Ile559Met LB/B rs184798444 - PROS1 P07225 VAR_014119 p.Arg561Gly LP/P rs121918476 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_014666 p.Thr78Met LP/P rs6122 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_035981 p.Glu545Gly US rs1396452003 A colorectal cancer sample PROS1 P07225 VAR_046802 p.Leu15His LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046803 p.Val18Glu LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046804 p.Arg40Leu LP/P rs7614835 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046805 p.Arg41His LP/P rs963668412 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046806 p.Lys50Glu LP/P rs748630360 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046807 p.Gly52Asp LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046808 p.Glu67Ala LP/P rs766423432 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046809 p.Ala68Asp LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046810 p.Phe72Cys LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046811 p.Pro76Leu LB/B rs73846070 - PROS1 P07225 VAR_046812 p.Val87Leu LP/P rs557733421 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046813 p.Cys88Tyr LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046814 p.Arg90Cys LP/P rs765935815 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046815 p.Arg90His LP/P rs200886866 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046816 p.Gly95Glu LP/P rs144526169 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046817 p.Gly95Arg LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046818 p.Thr98Ser LB/B rs142805170 - PROS1 P07225 VAR_046819 p.Arg101Cys LP/P rs778731080 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046820 p.Arg111Ser LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046821 p.Cys121Tyr LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046822 p.Asp129Gly LP/P rs749024073 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046823 p.Thr144Asn LP/P rs146366248 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046824 p.Trp149Cys LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046825 p.Asp157Gly LP/P rs751090951 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046826 p.Cys161Gly LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046827 p.Asn166Tyr LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046828 p.Asn168Ser LB/B rs144430063 - PROS1 P07225 VAR_046829 p.Cys175Phe LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046830 p.Cys186Tyr LP/P rs779391826 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046831 p.Glu204Gly LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046832 p.Arg233Lys LB/B rs41267007 - PROS1 P07225 VAR_046833 p.Cys241Ser LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046834 p.Asp243Asn LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046835 p.Asp245Gly LP/P rs1211117206 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046836 p.Cys247Gly LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046837 p.Glu249Lys LP/P rs1455675811 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046838 p.Cys265Arg LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046839 p.Cys265Trp LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046840 p.Tyr266Cys LP/P rs777616039 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046841 p.Cys267Ser LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046842 p.Leu300Pro LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046843 p.Ser324Pro LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046844 p.Gly336Asp LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046845 p.Gly336Ser LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046846 p.Gly336Val LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046847 p.Leu339Pro LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046848 p.Leu351Pro LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046849 p.Arg355His LP/P rs780863931 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046850 p.Gly357Arg LP/P rs941433523 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046851 p.Lys364Glu LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046852 p.Asp376Asn LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046853 p.Gly381Asp LP/P rs1223579199 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046854 p.Gly381Val LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046855 p.Trp383Arg LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046856 p.Met385Val LB/B rs767653920 - PROS1 P07225 VAR_046857 p.Glu390Lys LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046858 p.Leu446Pro LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046859 p.Cys449Ser LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046860 p.Cys475Arg LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046862 p.Ser501Ala LP/P rs121918472 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046863 p.Val508Gly LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046864 p.Val508Met LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046865 p.Arg515Cys LP/P rs199469500 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046866 p.Arg515Pro LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046867 p.Gly521Asp LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046868 p.Ala525Pro LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046869 p.Leu526Ser LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046870 p.Thr532Ala LP/P rs371028997 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046871 p.Leu552Ser LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046872 p.Ile562Leu US rs1380889353 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046873 p.Cys568Tyr LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046874 p.Leu575Arg LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046875 p.Asn583His LB/B rs139479630 - PROS1 P07225 VAR_046876 p.Leu584Gln LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046877 p.Met611Lys LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046878 p.Met611Thr LP/P rs750531364 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046879 p.Ala616Pro LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046880 p.Leu622Arg LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046881 p.Thr630Ile LP/P rs202190731 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046882 p.Tyr636Cys LP/P rs368173480 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046883 p.Gly638Asp LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046884 p.Cys639Phe LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046885 p.Cys639Tyr LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046886 p.Met640Thr LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046887 p.Ile644Ser LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046888 p.His664Pro LP/P - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046889 p.Ser665Leu LP/P rs778685576 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046890 p.Cys666Arg LP/P rs1302089144 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046891 p.Pro667Leu LP/P rs1220553873 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_067302 p.Tyr234Cys LP/P rs387906675 Thrombophilia due to protein S deficiency, autosomal recessive (THPH6) [MIM:614514] PROSER1 Q86XN7 VAR_030253 p.Val571Ala LB/B rs3751379 - PROSER1 Q86XN7 VAR_030254 p.Ser847Thr LB/B rs17058955 - PROSER2 Q86WR7 VAR_023097 p.Ala412Val LB/B rs12253554 - PROSER3 Q2NL68 VAR_056845 p.Ser302Arg LB/B rs231219 - PROSER3 Q2NL68 VAR_061631 p.Lys365Asn LB/B rs231217 - PROX1 Q92786 VAR_049362 p.His584Arg LB/B rs12121210 - PROX2 Q3B8N5 VAR_069378 p.Arg474His US - - PROZ P22891 VAR_013124 p.Glu70Lys LB/B rs3024778 - PROZ P22891 VAR_013125 p.Arg295His LB/B rs3024772 - PRPF3 O43395 VAR_016877 p.Thr494Met LP/P rs121434241 Retinitis pigmentosa 18 (RP18) [MIM:601414] PRPF3 O43395 VAR_046735 p.Pro493Ser LP/P rs121434242 Retinitis pigmentosa 18 (RP18) [MIM:601414] PRPF3 O43395 VAR_051286 p.Lys12Asn LB/B rs12736964 - PRPF31 Q8WWY3 VAR_025630 p.Ala194Glu LP/P rs119475043 Retinitis pigmentosa 11 (RP11) [MIM:600138] PRPF31 Q8WWY3 VAR_025631 p.Ala216Pro LP/P rs119475042 Retinitis pigmentosa 11 (RP11) [MIM:600138] PRPF4 O43172 VAR_071872 p.Pro315Leu LP/P rs587777599 Retinitis pigmentosa 70 (RP70) [MIM:615922] PRPF4 O43172 VAR_074029 p.Arg192His LP/P rs41296057 Retinitis pigmentosa 70 (RP70) [MIM:615922] PRPF4B Q13523 VAR_035633 p.Phe658Leu US rs1230491406 A breast cancer sample PRPF4B Q13523 VAR_046969 p.Ile83Val LB/B rs9503893 - PRPF4B Q13523 VAR_047798 p.Ile584Val LB/B rs56267049 - PRPF6 O94906 VAR_065768 p.Arg729Trp LP/P rs387907100 Retinitis pigmentosa 60 (RP60) [MIM:613983] PRPF6 O94906 VAR_069766 p.Asn477Ser US rs1433048453 - PRPF8 Q6P2Q9 VAR_022622 p.Lys68Glu LB/B rs1043391 - PRPF8 Q6P2Q9 VAR_022623 p.Arg227His LB/B rs11559304 - PRPF8 Q6P2Q9 VAR_022624 p.Pro874Leu LB/B rs1043396 - PRPF8 Q6P2Q9 VAR_022625 p.Asn1293His LB/B rs1043399 - PRPF8 Q6P2Q9 VAR_022626 p.Pro2301Thr LP/P rs121434239 Retinitis pigmentosa 13 (RP13) [MIM:600059] PRPF8 Q6P2Q9 VAR_022627 p.Phe2304Leu LP/P rs121434240 Retinitis pigmentosa 13 (RP13) [MIM:600059] PRPF8 Q6P2Q9 VAR_022628 p.His2309Pro LP/P rs121434236 Retinitis pigmentosa 13 (RP13) [MIM:600059] PRPF8 Q6P2Q9 VAR_022629 p.His2309Arg LP/P rs121434236 Retinitis pigmentosa 13 (RP13) [MIM:600059] PRPF8 Q6P2Q9 VAR_022630 p.Arg2310Gly LP/P - Retinitis pigmentosa 13 (RP13) [MIM:600059] PRPF8 Q6P2Q9 VAR_022631 p.Arg2310Lys LP/P rs121434238 Retinitis pigmentosa 13 (RP13) [MIM:600059] PRPF8 Q6P2Q9 VAR_022632 p.Phe2314Leu LP/P - Retinitis pigmentosa 13 (RP13) [MIM:600059] PRPF8 Q6P2Q9 VAR_022633 p.Tyr2334Asn LP/P - Retinitis pigmentosa 13 (RP13) [MIM:600059] PRPH P41219 VAR_083259 p.Arg133Pro US rs267607528 Amyotrophic lateral sclerosis (ALS) [MIM:105400] PRPH P41219 VAR_083260 p.Asp141Tyr US rs58599399 Amyotrophic lateral sclerosis (ALS) [MIM:105400] PRPH2 P23942 VAR_006853 p.Arg13Trp LP/P rs61754402 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006854 p.Ile32Val LB/B rs61755767 - PRPH2 P23942 VAR_006855 p.Leu45Phe LP/P rs61755770 Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161] PRPH2 P23942 VAR_006855 p.Leu45Phe LP/P rs61755770 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006857 p.Gly68Arg LP/P rs61755774 Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150] PRPH2 P23942 VAR_006859 p.Leu126Arg LP/P - Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006860 p.Arg142Trp LP/P rs61755783 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006861 p.Lys153Arg LP/P rs61755785 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006863 p.Asp157Asn LP/P rs61755787 Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150] PRPH2 P23942 VAR_006864 p.Cys165Tyr LP/P rs61755788 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006865 p.Gly167Asp LP/P rs61755789 Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150] PRPH2 P23942 VAR_006866 p.Arg172Gly LP/P rs61755792 Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150] PRPH2 P23942 VAR_006867 p.Arg172Gln LB/B rs61755793 - PRPH2 P23942 VAR_006868 p.Arg172Trp LB/B rs61755792 - PRPH2 P23942 VAR_006869 p.Asp173Val LP/P rs61755794 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006870 p.Tyr184Ser LB/B rs62645926 - PRPH2 P23942 VAR_006871 p.Leu185Pro LP/P rs121918563 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006873 p.Gly208Asp LP/P rs139185976 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006874 p.Pro210Arg LP/P rs61755798 Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150] PRPH2 P23942 VAR_006874 p.Pro210Arg LP/P rs61755798 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006875 p.Pro210Ser LP/P rs61755797 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006876 p.Phe211Leu LP/P rs61755799 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006877 p.Ser212Gly LP/P rs61755800 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006878 p.Ser212Thr LP/P rs61755801 Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161] PRPH2 P23942 VAR_006879 p.Cys213Arg LP/P rs61755802 Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150] PRPH2 P23942 VAR_006880 p.Cys214Ser LP/P rs61755804 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006881 p.Pro216Leu LP/P rs61755806 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006882 p.Pro216Ser LP/P rs61755805 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006883 p.Pro219Arg LB/B rs61755808 - PRPH2 P23942 VAR_006885 p.Arg220Gln LP/P rs61755810 Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150] PRPH2 P23942 VAR_006886 p.Arg220Trp LP/P rs61755809 Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150] PRPH2 P23942 VAR_006887 p.Asn244Lys LP/P rs61755816 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006888 p.Asn244His LB/B rs61755815 - PRPH2 P23942 VAR_006889 p.Gly266Asp LP/P rs62645935 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006890 p.Val268Ile LP/P rs62645936 Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161] PRPH2 P23942 VAR_006891 p.Gln304Glu LB/B rs390659 - PRPH2 P23942 VAR_006892 p.Gly305Asp LP/P rs61748432 Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161] PRPH2 P23942 VAR_006893 p.Arg310Lys LB/B rs425876 - PRPH2 P23942 VAR_006894 p.Pro313Leu LB/B rs61748434 - PRPH2 P23942 VAR_006895 p.Asp338Gly LB/B rs434102 - PRPH2 P23942 VAR_032052 p.Gly167Ser LP/P rs527236098 Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150] PRPH2 P23942 VAR_032054 p.Arg195Leu LP/P rs121918567 Choroidal dystrophy, central areolar 2 (CACD2) [MIM:613105] PRPH2 P23942 VAR_071974 p.Cys213Phe LP/P - Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161] PRPH2 P23942 VAR_075758 p.Arg123Trp LP/P rs563581127 Choroidal dystrophy, central areolar 2 (CACD2) [MIM:613105] PRPH2 P23942 VAR_075759 p.Leu126Pro LP/P - Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_075760 p.Gly137Ser LB/B rs781256236 - PRPH2 P23942 VAR_075761 p.Tyr141Cys LP/P rs61755781 Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161] PRPH2 P23942 VAR_075761 p.Tyr141Cys LP/P rs61755781 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_075762 p.Ser198Arg LP/P rs375978676 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_075763 p.Val209Ile LP/P rs753657349 Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161] PRPH2 P23942 VAR_075764 p.Pro210Leu LP/P rs61755798 Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_075765 p.Pro216Ala LP/P - Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_075766 p.Pro216Arg LP/P - Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_075767 p.Pro221Leu LP/P - Choroidal dystrophy, central areolar 2 (CACD2) [MIM:613105] PRPH2 P23942 VAR_075768 p.Gly249Ser LP/P - Retinitis pigmentosa 7 (RP7) [MIM:608133] PRPS1 P60891 VAR_004163 p.Asn114Ser LP/P rs137852540 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] PRPS1 P60891 VAR_004164 p.Asp183His LP/P rs137852541 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] PRPS1 P60891 VAR_016044 p.Asp52His LP/P rs137852542 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] PRPS1 P60891 VAR_016045 p.Leu129Ile LP/P rs137852543 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] PRPS1 P60891 VAR_016046 p.Ala190Val LP/P rs137852544 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] PRPS1 P60891 VAR_016047 p.His193Gln LP/P rs137852545 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] PRPS1 P60891 VAR_036593 p.Asp203His US - A breast cancer sample PRPS1 P60891 VAR_036594 p.Val219Gly US - A breast cancer sample PRPS1 P60891 VAR_036595 p.His231Asp US - A colorectal cancer sample PRPS1 P60891 VAR_036941 p.Glu43Asp LP/P rs80338731 Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070] PRPS1 P60891 VAR_036942 p.Met115Thr LP/P rs80338732 Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070] PRPS1 P60891 VAR_036943 p.Gln133Pro LP/P rs80338675 ARTS syndrome (ARTS) [MIM:301835] PRPS1 P60891 VAR_036944 p.Leu152Pro LP/P rs80338676 ARTS syndrome (ARTS) [MIM:301835] PRPS1 P60891 VAR_063522 p.Asp65Asn LP/P rs180177151 Deafness, X-linked, 1 (DFNX1) [MIM:304500] PRPS1 P60891 VAR_063523 p.Ala87Thr LP/P rs180177152 Deafness, X-linked, 1 (DFNX1) [MIM:304500] PRPS1 P60891 VAR_063524 p.Ile290Thr LP/P rs180177153 Deafness, X-linked, 1 (DFNX1) [MIM:304500] PRPS1 P60891 VAR_063525 p.Gly306Arg LP/P rs180177154 Deafness, X-linked, 1 (DFNX1) [MIM:304500] PRPS1 P60891 VAR_072719 p.Ser16Pro LB/B rs869025594 - PRPS1 P60891 VAR_078489 p.Val142Leu LB/B rs398122855 - PRPS1L1 P21108 VAR_050062 p.Glu279Asp LB/B rs3800962 - PRR12 Q9ULL5 VAR_086263 p.Arg1169Trp LP/P rs1435355373 Neuroocular syndrome (NOC) [MIM:619539] PRR12 Q9ULL5 VAR_086265 p.Leu1970Pro LP/P - Neuroocular syndrome (NOC) [MIM:619539] PRR14 Q9BWN1 VAR_035389 p.Pro359Leu LB/B rs3747481 - PRR14L Q5THK1 VAR_059641 p.Asn455Ser LB/B rs140081 - PRR14L Q5THK1 VAR_059642 p.Leu740Pro LB/B rs140080 - PRR14L Q5THK1 VAR_059643 p.Met876Ile LB/B rs17821493 - PRR14L Q5THK1 VAR_059644 p.Thr961Ile LB/B rs140079 - PRR14L Q5THK1 VAR_059645 p.Asp963Asn LB/B rs9619227 - PRR14L Q5THK1 VAR_059646 p.Ser1151Pro LB/B rs12159328 - PRR14L Q5THK1 VAR_059647 p.Ser1221Leu LB/B rs140078 - PRR14L Q5THK1 VAR_059648 p.Leu1395Phe LB/B rs3804090 - PRR14L Q5THK1 VAR_059649 p.Val1784Ile LB/B rs16989427 - PRR14L Q5THK1 VAR_061637 p.Glu1316Lys LB/B rs61461793 - PRR15 Q8IV56 VAR_059710 p.Pro115Ser LB/B rs10271996 - PRR16 Q569H4 VAR_061694 p.Pro110Thr LB/B rs17853861 - PRR18 Q8N4B5 VAR_036642 p.Cys136Ser LB/B rs7757150 - PRR22 Q8IZ63 VAR_042962 p.Pro118Leu LB/B rs3745640 - PRR25 Q96S07 VAR_063210 p.Thr92Ser LB/B rs1005190 - PRR25 Q96S07 VAR_063211 p.Pro249Leu LB/B rs13337837 - PRR27 Q6MZM9 VAR_043927 p.Ile44Leu LB/B rs1612460 - PRR27 Q6MZM9 VAR_043928 p.Arg91Cys LB/B rs1613461 - PRR29 P0C7W0 VAR_069055 p.Thr24Ser LB/B rs62070903 - PRR3 P79522 VAR_052963 p.Gly61Ser LB/B rs3888778 - PRR30 Q53SZ7 VAR_037469 p.Arg194Gly LB/B rs17855664 - PRR30 Q53SZ7 VAR_037470 p.Arg222Cys LB/B rs3739097 - PRR32 B1ATL7 VAR_059650 p.Met193Thr LB/B rs4289953 - PRR32 B1ATL7 VAR_061638 p.Leu115Val LB/B rs12835991 - PRR34 Q9NV39 VAR_061635 p.Pro28Leu LB/B rs12159707 - PRR34 Q9NV39 VAR_061636 p.Gln137Arg LB/B rs59929908 - PRR4 Q16378 VAR_027926 p.Arg96Gln LB/B rs1063193 - PRR4 Q16378 VAR_027927 p.Gln120Arg LB/B rs1047699 - PRR5 P85299 VAR_062230 p.Val243Met LB/B rs36082900 - PRR5L Q6MZQ0 VAR_043006 p.Ala41Thr LB/B rs330261 - PRR5L Q6MZQ0 VAR_043007 p.Pro330Ser LB/B rs11033639 - PRR7 Q8TB68 VAR_042437 p.Pro127His LB/B rs17851889 - PRRC2A P48634 VAR_023215 p.Pro57Arg LB/B rs1062968 - PRRC2A P48634 VAR_023216 p.Pro106Leu LB/B rs2280801 - PRRC2A P48634 VAR_023217 p.Thr544Lys LB/B rs1046080 - PRRC2A P48634 VAR_023218 p.Gln694Lys LB/B rs2844469 - PRRC2A P48634 VAR_023219 p.Asp742Glu LB/B rs1046081 - PRRC2A P48634 VAR_023220 p.Gly1285Ala LB/B rs2736158 - PRRC2A P48634 VAR_023221 p.Gly1415Ala LB/B rs2857703 - PRRC2A P48634 VAR_023222 p.Leu1503Pro LB/B rs2272593 - PRRC2A P48634 VAR_023223 p.Arg1740His LB/B rs1046089 - PRRC2A P48634 VAR_023224 p.Gly1744Ala LB/B rs2844491 - PRRC2A P48634 VAR_023225 p.Val1775Met LB/B rs11538264 - PRRC2A P48634 VAR_023226 p.Leu1895Val LB/B rs3132453 - PRRC2A P48634 VAR_023227 p.Pro2006Ser LB/B rs10885 - PRRC2A P48634 VAR_023228 p.Pro2130Leu LB/B rs1046756 - PRRC2A P48634 VAR_035796 p.Thr1087Ile US rs771808977 A breast cancer sample PRRC2A P48634 VAR_035797 p.Arg1152His US rs151148973 A breast cancer sample PRRC2A P48634 VAR_045992 p.Asp82Val LB/B rs6921213 - PRRC2A P48634 VAR_045993 p.Arg477Cys LB/B rs17857493 - PRRC2A P48634 VAR_045994 p.Arg804Cys LB/B rs11538262 - PRRC2A P48634 VAR_045995 p.Ser1407Asn LB/B rs35464047 - PRRC2A P48634 VAR_045996 p.Gly1544Asp LB/B rs34175432 - PRRC2A P48634 VAR_045997 p.Arg1563Gln LB/B rs11538263 - PRRC2A P48634 VAR_045998 p.Val1774Met LB/B rs11538264 - PRRC2A P48634 VAR_056742 p.Arg2075Trp LB/B rs34137317 - PRRC2B Q5JSZ5 VAR_030289 p.Ser1630Thr LB/B rs10736851 - PRRC2B Q5JSZ5 VAR_030290 p.Leu1675Pro LB/B rs10751478 - PRRC2B Q5JSZ5 VAR_057735 p.Met417Val LB/B rs34553878 - PRRC2C Q9Y520 VAR_046290 p.Ala235Thr LB/B rs10913157 - PRRC2C Q9Y520 VAR_046291 p.Asn343Lys LB/B rs36013361 - PRRC2C Q9Y520 VAR_046292 p.Glu468Gly LB/B rs704839 - PRRC2C Q9Y520 VAR_046293 p.Ala906Thr LB/B rs760644 - PRRC2C Q9Y520 VAR_046294 p.Pro959Ser LB/B rs34269512 - PRRC2C Q9Y520 VAR_046295 p.Ser1624Cys LB/B rs235468 - PRRC2C Q9Y520 VAR_046296 p.Pro1771Ser LB/B rs1687056 - PRRC2C Q9Y520 VAR_046297 p.Leu1868Arg LB/B rs3820169 - PRRC2C Q9Y520 VAR_046298 p.Ala1885Thr LB/B rs12025905 - PRRC2C Q9Y520 VAR_046299 p.Pro1924Arg LB/B rs183523 - PRRC2C Q9Y520 VAR_059584 p.Thr2717Ala LB/B rs2421847 - PRRG1 O14668 VAR_036268 p.Phe60Ile US - A breast cancer sample PRRG2 O14669 VAR_020332 p.Gly116Cys LB/B rs2288920 - PRRG2 O14669 VAR_051442 p.Pro22Ser LB/B rs35016366 - PRRG3 Q9BZD7 VAR_046712 p.Asn153Ser LB/B rs4323608 - PRRG4 Q9BZD6 VAR_051443 p.Glu33Lys LB/B rs33962176 - PRRG4 Q9BZD6 VAR_051444 p.Cys143Arg LB/B rs34736080 - PRRG4 Q9BZD6 VAR_051445 p.Pro176Gln LB/B rs34139105 - PRRT1 Q99946 VAR_036212 p.Ala94Thr US rs1427187570 A breast cancer sample PRRT2 Q7Z6L0 VAR_067010 p.Pro138Ala LB/B rs79182085 - PRRT2 Q7Z6L0 VAR_067011 p.Asp147His LB/B rs79568162 - PRRT2 Q7Z6L0 VAR_067012 p.Ala214Pro LB/B rs745594874 - PRRT2 Q7Z6L0 VAR_067013 p.Gly237Arg LB/B rs199556853 - PRRT2 Q7Z6L0 VAR_067014 p.Arg245His LB/B rs754897123 - PRRT2 Q7Z6L0 VAR_067320 p.Pro215Arg LB/B rs200926711 - PRRT2 Q7Z6L0 VAR_067321 p.Pro216Leu LB/B rs76335820 - PRRT2 Q7Z6L0 VAR_067322 p.Arg266Trp LP/P rs387907128 Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200] PRRT2 Q7Z6L0 VAR_067323 p.Trp281Arg LP/P - Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200] PRRT2 Q7Z6L0 VAR_067324 p.Ala287Thr LP/P - Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200] PRRT2 Q7Z6L0 VAR_067325 p.Gly305Arg LP/P rs767799831 Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200] PRRT2 Q7Z6L0 VAR_067326 p.Arg308Cys LP/P rs932713001 Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200] PRRT2 Q7Z6L0 VAR_067327 p.Ser317Asn LP/P rs387907125 Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA) [MIM:602066] PRRT2 Q7Z6L0 VAR_068426 p.Gly323Glu LP/P - Seizures, benign familial infantile, 2 (BFIS2) [MIM:605751] PRRT3 Q5FWE3 VAR_027745 p.Gln138Glu LB/B rs279601 - PRRT3 Q5FWE3 VAR_027746 p.Leu860Ile LB/B rs2279794 - PRRT3 Q5FWE3 VAR_061695 p.Ser213Pro LB/B rs55847610 - PRRT3 Q5FWE3 VAR_061696 p.Leu233Phe LB/B rs55847233 - PRRT3 Q5FWE3 VAR_061697 p.Arg334Gly LB/B rs59465469 - PRRX1 P54821 VAR_066414 p.Phe113Ser LP/P rs387906667 Agnathia-otocephaly complex (AGOTC) [MIM:202650] PRSS1 P07477 VAR_006720 p.Asn29Ile LP/P rs111033566 Pancreatitis, hereditary (PCTT) [MIM:167800] PRSS1 P07477 VAR_006721 p.Arg122His LP/P rs267606982 Pancreatitis, hereditary (PCTT) [MIM:167800] PRSS1 P07477 VAR_011652 p.Asp22Gly LP/P rs397507442 Pancreatitis, hereditary (PCTT) [MIM:167800] PRSS1 P07477 VAR_011653 p.Lys23Arg LP/P rs111033567 Pancreatitis, hereditary (PCTT) [MIM:167800] PRSS1 P07477 VAR_011654 p.Leu104Pro LP/P rs1554499091 Pancreatitis, hereditary (PCTT) [MIM:167800] PRSS1 P07477 VAR_011655 p.Arg116Cys LP/P rs387906698 Pancreatitis, hereditary (PCTT) [MIM:167800] PRSS1 P07477 VAR_011656 p.Cys139Phe LP/P - Pancreatitis, hereditary (PCTT) [MIM:167800] PRSS1 P07477 VAR_011693 p.Ala16Val LP/P rs202003805 Pancreatitis, hereditary (PCTT) [MIM:167800] PRSS1 P07477 VAR_012712 p.Asn29Thr LP/P rs111033566 Pancreatitis, hereditary (PCTT) [MIM:167800] PRSS1 P07477 VAR_012713 p.Arg122Cys LP/P rs111033568 Pancreatitis, hereditary (PCTT) [MIM:167800] PRSS1 P07477 VAR_036299 p.Thr137Met US rs117497341 A colorectal cancer sample PRSS1 P07477 VAR_037908 p.Asn54Ser LP/P rs144422014 Pancreatitis, hereditary (PCTT) [MIM:167800] PRSS1 P07477 VAR_037909 p.Glu79Lys LP/P rs111033564 Pancreatitis, hereditary (PCTT) [MIM:167800] PRSS12 P56730 VAR_051835 p.Ala606Ser LB/B rs28661939 - PRSS12 P56730 VAR_051836 p.Arg833Gln LB/B rs17594503 - PRSS16 Q9NQE7 VAR_051826 p.Ser104Ile LB/B rs5030965 - PRSS16 Q9NQE7 VAR_051827 p.Ala204Gly LB/B rs35466700 - PRSS2 P07478 VAR_051858 p.Ala117Val LB/B rs11547028 - PRSS2 P07478 VAR_071761 p.Asp153His LB/B rs1804564 - PRSS21 Q9Y6M0 VAR_051840 p.Arg264Gln LB/B rs2072273 - PRSS3 P35030 VAR_046794 p.Thr188Ala LB/B rs855581 - PRSS3 P35030 VAR_046795 p.Tyr232Cys LB/B rs1048379 - PRSS3 P35030 VAR_059788 p.Thr224Ser LB/B rs1063273 - PRSS3 P35030 VAR_067459 p.Ala174Val LB/B rs11547028 - PRSS35 Q8N3Z0 VAR_034810 p.Arg224Gln LB/B rs504593 - PRSS37 A4D1T9 VAR_039985 p.Thr119Pro LB/B rs12669721 - PRSS38 A1L453 VAR_042531 p.Met204Val LB/B rs9426581 - PRSS41 Q7RTY9 VAR_064369 p.Ser286Gly LB/B rs746540699 - PRSS48 Q7RTY5 VAR_042920 p.Cys53Tyr LB/B rs36097019 - PRSS48 Q7RTY5 VAR_042921 p.Leu118Ser LB/B rs17027505 - PRSS48 Q7RTY5 VAR_042922 p.Arg290Cys LB/B rs13126069 - PRSS50 Q9UI38 VAR_051859 p.Gln75Pro LB/B rs34788938 - PRSS50 Q9UI38 VAR_051860 p.Val98Ile LB/B rs35866901 - PRSS54 Q6PEW0 VAR_032497 p.Ser182Gly LB/B rs3815803 - PRSS54 Q6PEW0 VAR_032498 p.Val240Ile LB/B rs1052276 - PRSS54 Q6PEW0 VAR_032499 p.Thr295Ala LB/B rs2241414 - PRSS55 Q6UWB4 VAR_042525 p.Pro44Arg LB/B rs4521726 - PRSS55 Q6UWB4 VAR_042526 p.Ala212Val LB/B rs4406360 - PRSS56 P0CW18 VAR_065076 p.Arg176Gly LP/P rs387907096 Microphthalmia, isolated, 6 (MCOP6) [MIM:613517] PRSS56 P0CW18 VAR_065077 p.Trp309Ser LP/P rs387907095 Microphthalmia, isolated, 6 (MCOP6) [MIM:613517] PRSS56 P0CW18 VAR_069226 p.Gly237Arg LP/P rs730882160 Microphthalmia, isolated, 6 (MCOP6) [MIM:613517] PRSS56 P0CW18 VAR_069227 p.Val302Phe LP/P rs74703359 Microphthalmia, isolated, 6 (MCOP6) [MIM:613517] PRSS56 P0CW18 VAR_069228 p.Gly320Arg LP/P rs730882158 Microphthalmia, isolated, 6 (MCOP6) [MIM:613517] PRSS56 P0CW18 VAR_069229 p.Cys395Arg LP/P rs730882161 Microphthalmia, isolated, 6 (MCOP6) [MIM:613517] PRSS56 P0CW18 VAR_069230 p.Pro599Ala LP/P rs61744404 Microphthalmia, isolated, 6 (MCOP6) [MIM:613517] PRSS57 Q6UWY2 VAR_051839 p.Pro143Leu LB/B rs8102982 - PRTG Q2VWP7 VAR_038467 p.Ile1062Leu LB/B rs1438914 - PRTG Q2VWP7 VAR_049916 p.Thr236Ala LB/B rs16976466 - PRTG Q2VWP7 VAR_049917 p.Val826Leu LB/B rs10518816 - PRTN3 P24158 VAR_011691 p.Val119Ile LB/B rs351111 - PRTN3 P24158 VAR_011713 p.Ala135Thr LB/B rs1042281 - PRTN3 P24158 VAR_011714 p.Thr136Ser LB/B rs1042282 - PRUNE1 Q86TP1 VAR_043728 p.Gly397Ser LB/B rs3738477 - PRUNE1 Q86TP1 VAR_059559 p.Gly397Arg LB/B rs3738477 - PRUNE1 Q86TP1 VAR_078986 p.Asp30Asn LP/P rs1057521927 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481] PRUNE1 Q86TP1 VAR_078987 p.Pro54Thr US rs1085308033 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481] PRUNE1 Q86TP1 VAR_078988 p.Asp106Asn LP/P rs773618224 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481] PRUNE1 Q86TP1 VAR_078989 p.Arg128Gln LP/P rs767769359 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481] PRUNE1 Q86TP1 VAR_078991 p.Arg297Trp LP/P rs752599948 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481] PRUNE2 Q8WUY3 VAR_069436 p.Glu806Lys LB/B rs375315668 - PRX Q9BXM0 VAR_013056 p.Ala406Thr LB/B rs117336941 - PRX Q9BXM0 VAR_013057 p.Glu495Gln LB/B rs146789340 - PRX Q9BXM0 VAR_013058 p.Val882Ala LB/B rs268671 - PRX Q9BXM0 VAR_013059 p.Ile921Met LB/B rs268673 - PRX Q9BXM0 VAR_013060 p.Lys935Glu LB/B - - PRX Q9BXM0 VAR_013061 p.Pro1083Arg LB/B rs3745202 - PRX Q9BXM0 VAR_013062 p.Gly1132Arg LB/B rs268674 - PRX Q9BXM0 VAR_013063 p.Glu1259Lys LB/B rs751742049 - PRX Q9BXM0 VAR_013065 p.Arg1411Cys LB/B rs533966999 - PRX Q9BXM0 VAR_069093 p.Asp651Asn LP/P rs3814290 Charcot-Marie-Tooth disease 4F (CMT4F) [MIM:614895] PRX Q9BXM0 VAR_073295 p.Val525Ala LB/B rs149715830 - PRX Q9BXM0 VAR_073296 p.Arg1335Gln US rs1384489319 - PRXL2C Q7RTV5 VAR_052598 p.Arg83Lys LB/B rs9886834 - PSAP P07602 VAR_006943 p.Thr217Ile LP/P rs121918103 Metachromatic leukodystrophy due to saposin B deficiency (MLDSAPB) [MIM:249900] PSAP P07602 VAR_006944 p.Cys241Ser LP/P rs121918104 Metachromatic leukodystrophy due to saposin B deficiency (MLDSAPB) [MIM:249900] PSAP P07602 VAR_006945 p.Cys388Phe LP/P - Gaucher disease, atypical, due to saposin C deficiency (GDSAPC) [MIM:610539] PSAP P07602 VAR_031823 p.Asn215His LP/P rs121918107 Metachromatic leukodystrophy due to saposin B deficiency (MLDSAPB) [MIM:249900] PSAP P07602 VAR_031899 p.Asn215Lys LP/P rs770171865 Metachromatic leukodystrophy due to saposin B deficiency (MLDSAPB) [MIM:249900] PSAP P07602 VAR_042441 p.Leu349Pro LP/P rs121918110 Gaucher disease, atypical, due to saposin C deficiency (GDSAPC) [MIM:610539] PSAP P07602 VAR_086130 p.Cys412Tyr LP/P - Parkinson disease 24, autosomal dominant (PARK24) [MIM:619491] PSAP P07602 VAR_086131 p.Gln453Pro LP/P - Parkinson disease 24, autosomal dominant (PARK24) [MIM:619491] PSAPL1 Q6NUJ1 VAR_051895 p.Ala268Ser LB/B rs3796905 - PSAPL1 Q6NUJ1 VAR_051896 p.Val296Met LB/B rs6850206 - PSAPL1 Q6NUJ1 VAR_061780 p.Ala41Ser LB/B rs11548325 - PSAPL1 Q6NUJ1 VAR_061781 p.Gly44Arg LB/B rs58482081 - PSAPL1 Q6NUJ1 VAR_061782 p.Ala59Thr LB/B rs56737582 - PSAT1 Q9Y617 VAR_037252 p.Asp100Ala LP/P rs118203967 Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992] PSAT1 Q9Y617 VAR_048235 p.Pro87Ala LB/B rs11540974 - PSAT1 Q9Y617 VAR_072571 p.Ala99Val LP/P rs587777778 Neu-Laxova syndrome 2 (NLS2) [MIM:616038] PSAT1 Q9Y617 VAR_072572 p.Ser179Leu LP/P rs587777777 Neu-Laxova syndrome 2 (NLS2) [MIM:616038] PSAT1 Q9Y617 VAR_088493 p.Ser43Arg LP/P - Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992] PSAT1 Q9Y617 VAR_088494 p.Arg61Trp LP/P - Neu-Laxova syndrome 2 (NLS2) [MIM:616038] PSAT1 Q9Y617 VAR_088495 p.Tyr70Asn US - Neu-Laxova syndrome 2 (NLS2) [MIM:616038] PSAT1 Q9Y617 VAR_088496 p.Gly79Trp LP/P - Neu-Laxova syndrome 2 (NLS2) [MIM:616038] PSAT1 Q9Y617 VAR_088497 p.Glu155Gln US - Neu-Laxova syndrome 2 (NLS2) [MIM:616038] PSAT1 Q9Y617 VAR_088498 p.Cys245Arg LP/P - Neu-Laxova syndrome 2 (NLS2) [MIM:616038] PSAT1 Q9Y617 VAR_088499 p.Arg342Trp LP/P rs202103028 Neu-Laxova syndrome 2 (NLS2) [MIM:616038] PSCA O43653 VAR_020173 p.Glu30Lys LB/B rs3736001 - PSD2 Q9BQI7 VAR_043346 p.Arg31Gln LB/B rs34880693 - PSD2 Q9BQI7 VAR_043347 p.Arg51Met LB/B rs3797902 - PSD2 Q9BQI7 VAR_043348 p.Gly363Arg LB/B rs35714177 - PSD3 Q9NYI0 VAR_036947 p.Thr186Met LB/B rs7016219 - PSD3 Q9NYI0 VAR_036948 p.Thr186Pro LB/B rs7003060 - PSD3 Q9NYI0 VAR_036949 p.Pro293Leu LB/B rs13263453 - PSD4 Q8NDX1 VAR_027712 p.Gly269Ala LB/B rs4849167 - PSD4 Q8NDX1 VAR_051921 p.Gly83Arg LB/B rs1562277 - PSD4 Q8NDX1 VAR_051922 p.Ser233Pro LB/B rs12472091 - PSD4 Q8NDX1 VAR_051923 p.Arg637Gln LB/B rs45487591 - PSD4 Q8NDX1 VAR_051924 p.Ile658Val LB/B rs45574835 - PSEN1 P49768 VAR_006413 p.Ala79Val LP/P rs63749824 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006414 p.Val82Leu LP/P rs63749967 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006415 p.Val96Phe LP/P rs63750601 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006416 p.Tyr115Cys LP/P rs63750450 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006417 p.Tyr115His LP/P - Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006418 p.Glu120Asp LP/P rs63751272 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006419 p.Glu120Lys LP/P rs63750800 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006420 p.Met139Ile LP/P rs63750522 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006421 p.Met139Thr LP/P rs63751106 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006422 p.Met139Val LP/P rs63751037 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006423 p.Ile143Phe LP/P rs63750322 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006424 p.Ile143Thr LP/P rs63750004 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006425 p.Met146Ile LP/P rs63750391 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006426 p.Met146Leu LP/P rs63750306 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006427 p.Met146Val LP/P rs63750306 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006428 p.His163Arg LP/P rs63750590 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006429 p.His163Tyr LP/P rs63749885 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006430 p.Ser169Leu LP/P rs63751210 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006431 p.Ser169Pro LP/P rs63750418 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006432 p.Leu171Pro LP/P rs63750963 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006433 p.Gly209Val LP/P rs63750053 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006434 p.Ile213Thr LP/P rs63751309 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006435 p.Ala231Thr LP/P rs63749836 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006436 p.Ala231Val LP/P rs63750799 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006437 p.Met233Thr LP/P rs63751024 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006438 p.Leu235Pro LP/P rs63749835 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006439 p.Ala246Glu LP/P rs63750526 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006440 p.Leu250Ser LP/P rs63751163 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006441 p.Ala260Val LP/P rs63751420 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006442 p.Leu262Phe LP/P rs63750248 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006443 p.Cys263Arg LP/P rs63750543 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006444 p.Pro264Leu LP/P rs63750301 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006445 p.Pro267Ser LP/P rs63751229 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006447 p.Arg269Gly LP/P rs63751019 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006448 p.Arg269His LP/P rs63750900 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006449 p.Arg278Thr LP/P rs63749891 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006450 p.Glu280Ala LP/P rs63750231 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006451 p.Glu280Gly LP/P rs63750231 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006452 p.Ala285Val LP/P rs63751139 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006453 p.Leu286Val LP/P rs63751235 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006454 p.Glu318Gly LB/B rs17125721 - PSEN1 P49768 VAR_006455 p.Gly378Glu LP/P - Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006456 p.Gly384Ala LP/P rs63750646 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006457 p.Leu392Val LP/P rs63751416 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006458 p.Cys410Tyr LP/P rs661 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006459 p.Ala426Pro US rs63751223 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006460 p.Pro436Gln LP/P rs121917808 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_008141 p.Pro436Ser LP/P rs63749925 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_009208 p.Phe105Leu LP/P rs63750321 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_009209 p.Pro117Leu LP/P rs63749805 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_009210 p.Gly209Arg LP/P rs63749880 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_009211 p.Met233Leu LP/P rs63751287 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_009212 p.Leu282Arg LP/P rs63750050 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_009213 p.Ala409Thr US rs63750227 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010120 p.Thr116Asn LP/P rs63750730 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010121 p.Asn135Asp LP/P rs63750353 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010122 p.Met139Lys LP/P rs63751106 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010123 p.Thr147Ile LP/P rs63750907 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010124 p.Trp165Cys LP/P rs63751484 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010125 p.Leu173Trp LP/P rs63750299 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010126 p.Leu219Pro LP/P rs63750761 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010127 p.Ser289Cys LP/P - Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010128 p.Ser390Ile LP/P rs63750883 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010129 p.Asn405Ser US rs63751254 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_011876 p.Phe205Leu LB/B rs1042864 - PSEN1 P49768 VAR_016214 p.Cys92Ser LP/P rs63751141 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_016215 p.Leu113Pro LP/P rs63751399 Frontotemporal dementia (FTD) [MIM:600274] PSEN1 P49768 VAR_016216 p.Leu166Pro LP/P rs63750265 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_016217 p.Leu174Met LP/P rs63751144 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_016218 p.Gly206Ala LP/P rs63750082 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_016219 p.Gly266Ser LP/P rs121917807 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_016220 p.Leu271Val LP/P rs63750886 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_025605 p.Ala431Glu LP/P rs63750083 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_064747 p.Tyr315Cys US - - PSEN1 P49768 VAR_064902 p.Asp333Gly LP/P rs121917809 Cardiomyopathy, dilated, 1U (CMD1U) [MIM:613694] PSEN1 P49768 VAR_070023 p.Leu134Arg US rs1595002439 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_070024 p.His214Tyr US rs63751003 - PSEN1 P49768 VAR_070025 p.Leu262Val LP/P - Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_070026 p.Ala396Thr US - Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075260 p.Arg35Gln US rs63750592 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075261 p.Ile83Thr LP/P - Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075263 p.Phe177Leu LP/P rs63749911 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075264 p.Phe177Ser US rs63749806 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075265 p.Ser178Pro US rs63750155 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075266 p.Gly206Ser LP/P rs63750569 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075267 p.Gly209Glu US rs63750053 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075268 p.Ile213Leu LP/P rs63750861 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075269 p.Gln222Arg US rs63750009 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075270 p.Val261Phe LP/P rs63750964 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075271 p.Thr274Arg US rs63750284 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075273 p.Thr354Ile US rs63751164 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075274 p.Arg358Gln US rs63751174 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075275 p.Ser365Tyr US rs63750941 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075276 p.Gly394Val US rs63750929 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075277 p.Ile408Thr LP/P rs906454643 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075278 p.Leu418Phe US rs63751316 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075280 p.Leu435Phe LP/P rs63750001 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_075282 p.Ile439Val US rs63750249 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081228 p.Leu85Pro LP/P rs63750599 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081229 p.Val89Leu LP/P rs63750815 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081230 p.Val94Met US rs63750831 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081231 p.Val97Leu US rs63750852 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081232 p.Thr116Ile LP/P rs63750730 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081233 p.Pro117Ser LP/P rs63750550 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081234 p.Val142Phe US - Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081235 p.Leu153Val LP/P rs63751441 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081236 p.Tyr154Cys US rs63751292 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081237 p.Tyr154Asn LP/P rs63750588 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081238 p.Tyr159Phe US rs778630379 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081240 p.Ser170Phe LP/P rs63750577 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081241 p.Gly183Val US rs63751068 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081241 p.Gly183Val US rs63751068 Pick disease of the brain (PIDB) [MIM:172700] PSEN1 P49768 VAR_081242 p.Glu184Asp LP/P rs63750311 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081243 p.Gly206Asp LP/P rs63750082 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081244 p.Gly217Arg LP/P rs267606983 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081245 p.Ile229Phe LP/P rs63749970 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081246 p.Leu235Arg LP/P - Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081247 p.Leu235Val LP/P rs63751130 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081248 p.Phe237Ile US rs63750858 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081249 p.Phe237Leu US rs63750858 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081250 p.Cys263Phe LP/P rs63751102 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081251 p.Ala275Val US rs1555355869 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081252 p.Arg278Ile LP/P rs63749891 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081253 p.Leu282Val LP/P rs63749937 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081254 p.Lys311Arg US rs115865530 - PSEN1 P49768 VAR_081255 p.Arg377Met US - Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081256 p.Gly378Val LP/P rs63750323 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081257 p.Leu381Phe LP/P rs63750687 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081258 p.Leu381Val LP/P rs63750687 Alzheimer disease 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_081259 p.Gly417Ala US - Alzheimer disease 3 (AD3) [MIM:607822] PSEN2 P49810 VAR_006461 p.Arg62His LP/P rs58973334 Alzheimer disease 4 (AD4) [MIM:606889] PSEN2 P49810 VAR_006462 p.Asn141Ile LP/P rs63750215 Alzheimer disease 4 (AD4) [MIM:606889] PSEN2 P49810 VAR_006463 p.Met239Val LP/P rs28936379 Alzheimer disease 4 (AD4) [MIM:606889] PSEN2 P49810 VAR_007958 p.Val148Ile LP/P rs63750812 Alzheimer disease 4 (AD4) [MIM:606889] PSEN2 P49810 VAR_009214 p.Thr122Pro LP/P rs63749851 Alzheimer disease 4 (AD4) [MIM:606889] PSEN2 P49810 VAR_009215 p.Met239Ile LP/P rs63749884 Alzheimer disease 4 (AD4) [MIM:606889] PSEN2 P49810 VAR_064903 p.Ser130Leu US rs63750197 Alzheimer disease 4 (AD4) [MIM:606889] PSEN2 P49810 VAR_064903 p.Ser130Leu US rs63750197 Cardiomyopathy, dilated, 1V (CMD1V) [MIM:613697] PSEN2 P49810 VAR_070027 p.Arg71Trp US rs140501902 Alzheimer disease 4 (AD4) [MIM:606889] PSEN2 P49810 VAR_081261 p.Thr122Arg LP/P rs28936380 Alzheimer disease 4 (AD4) [MIM:606889] PSEN2 P49810 VAR_081262 p.Glu126Lys US - Alzheimer disease 4 (AD4) [MIM:606889] PSEN2 P49810 VAR_081263 p.Asn141Tyr LP/P rs61761208 Alzheimer disease 4 (AD4) [MIM:606889] PSG1 P11464 VAR_056063 p.Glu41Gln LB/B rs707744 - PSG1 P11464 VAR_056064 p.Thr43Pro LB/B rs707745 - PSG1 P11464 VAR_056065 p.Glu47Lys LB/B rs1058956 - PSG1 P11464 VAR_056066 p.Thr63Ala LB/B rs1064479 - PSG1 P11464 VAR_056067 p.Arg73Lys LB/B rs1064480 - PSG1 P11464 VAR_056068 p.Glu87Gln LB/B rs1058661 - PSG1 P11464 VAR_056069 p.Ala101Val LB/B rs707748 - PSG1 P11464 VAR_056070 p.Val134Glu LB/B rs1058671 - PSG1 P11464 VAR_056071 p.Glu197Lys LB/B rs1058692 - PSG1 P11464 VAR_056072 p.Thr198Asn LB/B rs1058693 - PSG1 P11464 VAR_059408 p.Ile125Val LB/B rs1058960 - PSG11 Q9UQ72 VAR_056076 p.Ala176Thr LB/B rs1058085 - PSG11 Q9UQ72 VAR_060365 p.Asn264Asp LB/B rs10414166 - PSG11 Q9UQ72 VAR_061325 p.Val83Ile LB/B rs2471952 - PSG11 Q9UQ72 VAR_061326 p.Glu310Lys LB/B rs10412348 - PSG2 P11465 VAR_016039 p.Val20Leu LB/B rs3887660 - PSG2 P11465 VAR_049918 p.Thr176Ala LB/B rs16976431 - PSG2 P11465 VAR_049919 p.Gln179Leu LB/B rs1058086 - PSG2 P11465 VAR_049920 p.Thr335Arg LB/B rs1064937 - PSG3 Q16557 VAR_015679 p.Leu30Pro LB/B rs12185496 - PSG3 Q16557 VAR_026722 p.Leu23Ser LB/B rs11559136 - PSG3 Q16557 VAR_026723 p.Asn198Thr LB/B rs16976174 - PSG3 Q16557 VAR_049921 p.Lys199Asn LB/B rs17173152 - PSG3 Q16557 VAR_059409 p.Leu30Ser LB/B rs12185496 - PSG3 Q16557 VAR_061323 p.Ile290Asn LB/B rs28698193 - PSG4 Q00888 VAR_016040 p.Leu75Val LB/B rs3170216 - PSG4 Q00888 VAR_056073 p.Ser240Pro LB/B rs3859474 - PSG4 Q00888 VAR_056074 p.Val286Ala LB/B rs2355442 - PSG4 Q00888 VAR_060362 p.Gln11His LB/B rs11883278 - PSG4 Q00888 VAR_060363 p.Ser177Arg LB/B rs73548061 - PSG4 Q00888 VAR_060364 p.Lys267Glu LB/B rs1058718 - PSG5 Q15238 VAR_016041 p.Asn154Lys LB/B rs1058259 - PSG5 Q15238 VAR_060260 p.Leu18Val LB/B rs8107936 - PSG5 Q15238 VAR_060261 p.Thr168Ile LB/B rs5013158 - PSG5 Q15238 VAR_060262 p.Arg227His LB/B rs1058285 - PSG6 Q00889 VAR_011723 p.Leu155Phe LB/B rs1058674 - PSG6 Q00889 VAR_011724 p.Arg165Leu LB/B rs1058680 - PSG6 Q00889 VAR_011725 p.Ile167Thr LB/B rs1065505 - PSG6 Q00889 VAR_011726 p.Leu180Trp LB/B rs1065507 - PSG6 Q00889 VAR_011727 p.Leu181Met LB/B rs1065508 - PSG6 Q00889 VAR_011728 p.Asn185Ser LB/B rs1065509 - PSG6 Q00889 VAR_011729 p.Arg191Ser LB/B rs1058688 - PSG6 Q00889 VAR_011730 p.Lys196Glu LB/B rs1065511 - PSG6 Q00889 VAR_011731 p.Lys253Asn LB/B rs1065513 - PSG6 Q00889 VAR_011732 p.Leu257Ser LB/B rs1058710 - PSG6 Q00889 VAR_011733 p.Ala258Thr LB/B rs1065515 - PSG6 Q00889 VAR_011735 p.Ile404Ser LB/B rs1065525 - PSG6 Q00889 VAR_049922 p.His85Asp LB/B rs3198831 - PSG6 Q00889 VAR_049923 p.Met161Thr LB/B rs1058679 - PSG6 Q00889 VAR_061324 p.Met188Arg LB/B rs59587483 - PSG7 Q13046 VAR_056075 p.Tyr65His LB/B rs7245978 - PSG8 Q9UQ74 VAR_033620 p.Val349Asp LB/B rs1064490 - PSG8 Q9UQ74 VAR_049924 p.Gln315Pro LB/B rs11879884 - PSG9 Q00887 VAR_049925 p.Ile325Thr LB/B rs1135905 - PSG9 Q00887 VAR_049926 p.Gln374Leu LB/B rs2074923 - PSG9 Q00887 VAR_049927 p.His397Arg LB/B rs2072285 - PSG9 Q00887 VAR_058296 p.Ala176Thr LB/B rs763005161 - PSG9 Q00887 VAR_059410 p.Leu18Val LB/B rs8101191 - PSKH1 P11801 VAR_040614 p.Asn301Ser LB/B rs35552721 - PSKH2 Q96QS6 VAR_040615 p.Gly72Asp LB/B rs56407605 - PSKH2 Q96QS6 VAR_040616 p.Arg79Lys LB/B rs35315725 - PSKH2 Q96QS6 VAR_040617 p.Arg114Gln LB/B rs35915498 - PSKH2 Q96QS6 VAR_040618 p.Ser116Ile US - A lung adenocarcinoma sample PSKH2 Q96QS6 VAR_040619 p.Gln132Arg LB/B rs16879427 - PSKH2 Q96QS6 VAR_040620 p.Arg148Gln LB/B rs56356246 - PSKH2 Q96QS6 VAR_040621 p.Ala176Ser LB/B rs6998760 - PSKH2 Q96QS6 VAR_040622 p.Gly211Arg LB/B rs36074412 - PSKH2 Q96QS6 VAR_040623 p.Lys212Ile US rs778066815 A lung adenocarcinoma sample PSKH2 Q96QS6 VAR_040624 p.Thr225Ala LB/B rs34457516 - PSKH2 Q96QS6 VAR_040625 p.Ser266Arg LB/B rs34037815 - PSKH2 Q96QS6 VAR_040626 p.Ile336Val LB/B rs16876805 - PSMA1 P25786 VAR_067454 p.Gly37Val LB/B rs17850016 - PSMA2 P25787 VAR_036278 p.Leu110Val US - A colorectal cancer sample PSMA7 O14818 VAR_078692 p.Ala112Asp US - - PSMB1 P20618 VAR_051547 p.Pro11Ala LB/B rs12717 - PSMB1 P20618 VAR_051548 p.Ile208Asn LB/B rs10541 - PSMB1 P20618 VAR_087692 p.Tyr103His US - Neurodevelopmental disorder with microcephaly, hypotonia, and absent language (NEDMHAL) [MIM:620038] PSMB10 P40306 VAR_085404 p.Phe14Ser US - Proteasome-associated autoinflammatory syndrome 5 (PRAAS5) [MIM:619175] PSMB11 A5LHX3 VAR_051550 p.Gly49Ser LB/B rs34457782 - PSMB3 P49720 VAR_034415 p.Met34Leu LB/B rs4907 - PSMB4 P28070 VAR_012072 p.Met95Ile LB/B rs1804241 - PSMB4 P28070 VAR_013115 p.Ile234Thr LB/B rs4603 - PSMB5 P28074 VAR_051549 p.Arg24Cys LB/B rs11543947 - PSMB6 P28072 VAR_020030 p.Pro107Ala LB/B rs2304974 - PSMB7 Q99436 VAR_013292 p.Val39Ala LB/B rs4574 - PSMB8 P28062 VAR_006488 p.Gly8Arg LB/B rs114772012 - PSMB8 P28062 VAR_057046 p.Thr74Ser LB/B rs17220206 - PSMB8 P28062 VAR_065204 p.Gln49Lys LB/B rs2071543 - PSMB8 P28062 VAR_065291 p.Thr75Met LP/P rs748082671 Proteasome-associated autoinflammatory syndrome 1 (PRAAS1) [MIM:256040] PSMB8 P28062 VAR_066449 p.Gly201Val LP/P rs387906680 Proteasome-associated autoinflammatory syndrome 1 (PRAAS1) [MIM:256040] PSMB8 P28062 VAR_075256 p.Ala94Pro US - Proteasome-associated autoinflammatory syndrome 1 (PRAAS1) [MIM:256040] PSMB8 P28062 VAR_075257 p.Lys105Gln LP/P rs1554239543 Proteasome-associated autoinflammatory syndrome 1 (PRAAS1) [MIM:256040] PSMB9 P28065 VAR_013578 p.Arg60His LB/B rs17587 - PSMB9 P28065 VAR_051551 p.Gly9Glu LB/B rs35100697 - PSMB9 P28065 VAR_051552 p.Val32Ile LB/B rs241419 - PSMB9 P28065 VAR_051553 p.Arg173Cys LB/B rs17213861 - PSMB9 P28065 VAR_075258 p.Gly165Asp LP/P rs369359789 Proteasome-associated autoinflammatory syndrome 3 (PRAAS3) [MIM:617591] PSMC1 P62191 VAR_087793 p.Ile328Thr US - Birk-Aharoni syndrome (BKAH) [MIM:620071] PSMC3IP Q9P2W1 VAR_037841 p.Tyr163Asn LB/B rs2292754 - PSMC5 P62195 VAR_035901 p.Arg60Gln US - A colorectal cancer sample PSMC5 P62195 VAR_048119 p.Arg258Trp LB/B rs11543211 - PSMD12 O00232 VAR_051558 p.Val358Ala LB/B rs2230680 - PSMD13 Q9UNM6 VAR_024591 p.Asn13Ser LB/B rs1045288 - PSMD13 Q9UNM6 VAR_031094 p.Gly204Glu LB/B rs1794108 - PSMD13 Q9UNM6 VAR_031095 p.Leu205Phe LB/B rs1794109 - PSMD13 Q9UNM6 VAR_057050 p.Ser150Leu LB/B rs28927679 - PSMD2 Q13200 VAR_051554 p.Ala176Thr LB/B rs11545172 - PSMD2 Q13200 VAR_051555 p.Glu313Asp LB/B rs11545169 - PSMD2 Q13200 VAR_067451 p.Asn724Tyr LB/B rs17856236 - PSMD5 Q16401 VAR_051556 p.Glu21Gly LB/B rs2297575 - PSMD5 Q16401 VAR_051557 p.Leu72His LB/B rs17282618 - PSMD9 O00233 VAR_009953 p.Val17Ala LB/B rs2230681 - PSMD9 O00233 VAR_057047 p.Thr74Ile LB/B rs2291116 - PSMD9 O00233 VAR_057048 p.Arg134Trp LB/B rs1177573 - PSMD9 O00233 VAR_057049 p.Glu197Gly LB/B rs14259 - PSME1 Q06323 VAR_011993 p.Ser55Asn LB/B rs1803830 - PSME1 Q06323 VAR_011994 p.Thr244Lys LB/B rs14930 - PSME2 Q9UL46 VAR_063111 p.His89Pro LB/B rs7146672 - PSME4 Q14997 VAR_031189 p.Ile872Val LB/B rs2302878 - PSME4 Q14997 VAR_031190 p.Ser1371Thr LB/B rs805408 - PSME4 Q14997 VAR_059755 p.Thr1825Ala LB/B rs35903236 - PSMF1 Q92530 VAR_022153 p.His174Arg LB/B rs2235587 - PSMF1 Q92530 VAR_024564 p.Phe36Cys LB/B rs1803415 - PSMG1 O95456 VAR_054014 p.Ile166Val LB/B rs8131611 - PSMG2 Q969U7 VAR_085403 p.Asn225Lys US rs1323730269 Proteasome-associated autoinflammatory syndrome 4 (PRAAS4) [MIM:619183] PSORS1C1 Q9UIG5 VAR_017391 p.Pro24Thr LB/B rs1265097 - PSORS1C1 Q9UIG5 VAR_017392 p.Glu34Gln LB/B - - PSORS1C1 Q9UIG5 VAR_017393 p.Arg37His LB/B rs9263726 - PSORS1C1 Q9UIG5 VAR_017394 p.Pro133Leu LB/B rs1063646 - PSORS1C1 Q9UIG5 VAR_047088 p.Glu34Lys LB/B rs1265096 - PSORS1C1 Q9UIG5 VAR_047089 p.Pro43Ser LB/B rs9501057 - PSORS1C1 Q9UIG5 VAR_047090 p.Ser66Cys LB/B rs2233943 - PSORS1C2 Q9UIG4 VAR_017395 p.Gly25Asp LB/B rs2233950 - PSORS1C2 Q9UIG4 VAR_017396 p.Pro84Leu LB/B - - PSORS1C2 Q9UIG4 VAR_063104 p.Leu83Pro LB/B rs2233952 - PSPH P78330 VAR_022378 p.Asp32Asn LP/P rs104894035 Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023] PSPH P78330 VAR_022379 p.Met52Thr LP/P rs104894036 Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023] PSPH P78330 VAR_084508 p.Ala35Thr LP/P - Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023] PSRC1 Q6PGN9 VAR_051288 p.Arg312Gln LB/B rs34863121 - PSTK Q8IV42 VAR_028156 p.Gly206Arg LB/B rs3736582 - PSTPIP1 O43586 VAR_023515 p.Gln48His LB/B rs1141038 - PSTPIP1 O43586 VAR_023516 p.Glu106Lys LB/B rs1141039 - PSTPIP1 O43586 VAR_023517 p.Gln146His LB/B rs1141041 - PSTPIP1 O43586 VAR_023518 p.Arg149Leu LB/B rs1141042 - PSTPIP1 O43586 VAR_023519 p.Ala151Ser LB/B rs1141043 - PSTPIP1 O43586 VAR_023520 p.Glu155Asp LB/B rs1141044 - PSTPIP1 O43586 VAR_023521 p.Gln156His LB/B rs1141045 - PSTPIP1 O43586 VAR_023522 p.Ala230Thr LP/P rs121908130 PAPA syndrome (PAPAS) [MIM:604416] PSTPIP1 O43586 VAR_023523 p.Glu250Gln LP/P rs28939089 PAPA syndrome (PAPAS) [MIM:604416] PSTPIP1 O43586 VAR_070635 p.Glu250Lys LP/P rs28939089 PAPA syndrome (PAPAS) [MIM:604416] PSTPIP2 Q9H939 VAR_059708 p.Asn322Asp LB/B rs2276199 - PSTPIP2 Q9H939 VAR_059709 p.Asn322Ser LB/B rs16978507 - PTAFR P25105 VAR_011851 p.Ala224Asp LB/B rs5938 - PTAFR P25105 VAR_011852 p.Asn338Ser LB/B rs5939 - PTCD1 O75127 VAR_052936 p.Pro356Leu LB/B rs34714513 - PTCD1 O75127 VAR_052937 p.Val620Gly LB/B rs35633728 - PTCD3 Q96EY7 VAR_035154 p.Ala2Val LB/B rs13393659 - PTCD3 Q96EY7 VAR_035155 p.Ser681Gly LB/B rs2241433 - PTCH1 Q13635 VAR_007843 p.Leu175Pro LP/P - Basal cell nevus syndrome 1 (BCNS1) [MIM:109400] PTCH1 Q13635 VAR_007844 p.Phe376Ser LP/P - Basal cell nevus syndrome 1 (BCNS1) [MIM:109400] PTCH1 Q13635 VAR_007847 p.Arg1114Trp LP/P rs587776689 Basal cell carcinoma (BCC) [MIM:605462] PTCH1 Q13635 VAR_007847 p.Arg1114Trp LP/P rs587776689 Basal cell nevus syndrome 1 (BCNS1) [MIM:109400] PTCH1 Q13635 VAR_010974 p.Gly509Arg US - Basal cell nevus syndrome 1 (BCNS1) [MIM:109400] PTCH1 Q13635 VAR_010975 p.Gly509Val LP/P - Basal cell nevus syndrome 1 (BCNS1) [MIM:109400] PTCH1 Q13635 VAR_010976 p.Asp513Tyr LP/P - Basal cell nevus syndrome 1 (BCNS1) [MIM:109400] PTCH1 Q13635 VAR_010978 p.Val829Met US rs201125580 Squamous cell carcinoma PTCH1 Q13635 VAR_010979 p.Gly1069Arg LP/P - Basal cell nevus syndrome 1 (BCNS1) [MIM:109400] PTCH1 Q13635 VAR_010980 p.Ser1132Pro LP/P rs878853856 Basal cell nevus syndrome 1 (BCNS1) [MIM:109400] PTCH1 Q13635 VAR_010981 p.Ser1132Tyr LP/P - Basal cell nevus syndrome 1 (BCNS1) [MIM:109400] PTCH1 Q13635 VAR_010982 p.Glu1242Lys US rs779417284 Squamous cell carcinoma PTCH1 Q13635 VAR_010983 p.Pro1315Leu LB/B rs357564 - PTCH1 Q13635 VAR_010984 p.Glu1438Asp LP/P - Basal cell nevus syndrome 1 (BCNS1) [MIM:109400] PTCH1 Q13635 VAR_020440 p.Thr1195Ser LB/B rs2236405 - PTCH1 Q13635 VAR_020845 p.Thr230Pro LP/P - Basal cell nevus syndrome 1 (BCNS1) [MIM:109400] PTCH1 Q13635 VAR_020847 p.Pro1282Leu LB/B rs2227968 - PTCH1 Q13635 VAR_032952 p.Ala393Thr LP/P rs199476091 Holoprosencephaly 7 (HPE7) [MIM:610828] PTCH1 Q13635 VAR_032953 p.Ala443Gly LP/P rs878853845 Holoprosencephaly 7 (HPE7) [MIM:610828] PTCH1 Q13635 VAR_032954 p.Thr728Met LP/P rs115556836 Holoprosencephaly 7 (HPE7) [MIM:610828] PTCH1 Q13635 VAR_032955 p.Val751Gly LP/P - Holoprosencephaly 7 (HPE7) [MIM:610828] PTCH1 Q13635 VAR_032956 p.Ser827Gly LP/P rs199476092 Holoprosencephaly 7 (HPE7) [MIM:610828] PTCH1 Q13635 VAR_032957 p.Val908Gly LP/P rs199476093 Holoprosencephaly 7 (HPE7) [MIM:610828] PTCH1 Q13635 VAR_032958 p.Thr1052Met LP/P rs138911275 Holoprosencephaly 7 (HPE7) [MIM:610828] PTCH2 Q9Y6C5 VAR_018935 p.Glu346Gln LB/B rs11573578 - PTCH2 Q9Y6C5 VAR_018936 p.Glu493Lys LB/B rs11573581 - PTCH2 Q9Y6C5 VAR_018937 p.His622Tyr LB/B rs11573586 - PTCH2 Q9Y6C5 VAR_018938 p.Thr988Met LB/B rs11573590 - PTCH2 Q9Y6C5 VAR_018939 p.Val1019Met LB/B rs11573591 - PTCH2 Q9Y6C5 VAR_018940 p.Ile1121Met LB/B rs11573598 - PTCH2 Q9Y6C5 VAR_050466 p.Val995Met LB/B rs11573591 - PTCH2 Q9Y6C5 VAR_081391 p.Arg719Gln US rs121434397 - PTCHD1 Q96NR3 VAR_064872 p.Leu73Phe LB/B rs373105249 - PTCHD1 Q96NR3 VAR_064873 p.Ile173Val LB/B rs147324438 - PTCHD1 Q96NR3 VAR_064874 p.Val195Ile LB/B rs769407241 - PTCHD1 Q96NR3 VAR_064875 p.Pro251Leu LB/B - - PTCHD1 Q96NR3 VAR_064877 p.His359Arg LB/B rs1331109571 - PTCHD1 Q96NR3 VAR_064878 p.Ala470Asp LB/B - - PTCHD1 Q96NR3 VAR_064879 p.Glu479Gly LB/B - - PTCHD1 Q96NR3 VAR_064880 p.Asn497Lys LB/B rs35880456 - PTCHD1 Q96NR3 VAR_075876 p.Ser51Asn US - - PTCHD1 Q96NR3 VAR_075877 p.Arg82His LB/B rs371935424 - PTCHD1 Q96NR3 VAR_075878 p.Val882Ala LB/B rs1393748204 - PTCHD3 Q3KNS1 VAR_036918 p.Thr126Ala LB/B rs12098477 - PTCHD3 Q3KNS1 VAR_036919 p.Leu152Pro LB/B rs6482626 - PTCHD3 Q3KNS1 VAR_036920 p.Ala224Gly LB/B rs12098562 - PTCHD3 Q3KNS1 VAR_036921 p.Arg372Lys LB/B rs2152099 - PTCHD3 Q3KNS1 VAR_036922 p.Cys407Gly LB/B rs2484180 - PTCHD3 Q3KNS1 VAR_036923 p.Asp473Gly LB/B rs2429485 - PTCHD3 Q3KNS1 VAR_036924 p.Met521Thr LB/B rs2505327 - PTCHD3 Q3KNS1 VAR_036925 p.Ile584Met LB/B rs1638630 - PTCRA Q6ISU1 VAR_038957 p.Val106Ile LB/B rs9471966 - PTCRA Q6ISU1 VAR_038958 p.Ala183Thr LB/B rs36111725 - PTDSS1 P48651 VAR_048735 p.Thr423Asn LB/B rs7835798 - PTDSS1 P48651 VAR_070987 p.Leu265Pro LP/P rs587777090 Lenz-Majewski hyperostotic dwarfism (LMHD) [MIM:151050] PTDSS1 P48651 VAR_070988 p.Pro269Ser LP/P rs587777089 Lenz-Majewski hyperostotic dwarfism (LMHD) [MIM:151050] PTDSS1 P48651 VAR_070989 p.Gln353Arg LP/P rs587777088 Lenz-Majewski hyperostotic dwarfism (LMHD) [MIM:151050] PTEN P60484 VAR_007457 p.Arg15Ser US rs1064794096 Glioma PTEN P60484 VAR_007458 p.Gly36Glu US rs1554893792 Glioma PTEN P60484 VAR_007459 p.Leu42Arg US - Glioma PTEN P60484 VAR_007460 p.Leu57Trp US rs786202398 Glioma PTEN P60484 VAR_007461 p.Ile67Arg LP/P - Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_007462 p.Tyr68His LP/P rs398123317 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_007463 p.His123Arg LP/P rs121909222 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_007464 p.Cys124Arg LP/P rs121909223 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_007465 p.Gly129Glu LP/P rs121909218 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_007466 p.Gly129Arg US rs786204929 Glioblastoma PTEN P60484 VAR_007467 p.Arg130Leu LP/P rs121909229 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_007468 p.Arg130Gln LP/P rs121909229 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_007469 p.Met134Leu LP/P - Prostate cancer (PC) [MIM:176807] PTEN P60484 VAR_007470 p.Ser170Arg LP/P rs121909221 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_007807 p.Leu112Pro LP/P rs121909230 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_007807 p.Leu112Pro LP/P rs121909230 Lhermitte-Duclos disease (LDD) [MIM:158350] PTEN P60484 VAR_007808 p.Cys136Tyr LP/P rs786204859 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_008036 p.Met35Arg LP/P rs121909225 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_008734 p.Ala34Asp LP/P - Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_008735 p.Cys105Tyr LP/P rs587782343 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_008736 p.Ile135Val LP/P rs587782360 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_008738 p.Gly165Val LP/P rs786204863 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_008739 p.Gly165Glu LP/P - Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_008740 p.Pro246Leu LP/P rs587782350 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_008741 p.Lys289Glu LP/P rs562015640 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_008742 p.Val343Glu LP/P - Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_008743 p.Phe347Leu LP/P - Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_011587 p.Arg47Gly LP/P rs786204855 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_011588 p.Val119Leu US rs139767111 Multiple cancers PTEN P60484 VAR_011589 p.Val158Leu US - Multiple cancers PTEN P60484 VAR_018100 p.Asp19Asn US rs121909233 Malignant melanoma PTEN P60484 VAR_018101 p.His61Asp US rs121909236 - PTEN P60484 VAR_018102 p.Leu70Pro LP/P rs121909226 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_018103 p.Ala121Gly LP/P rs121909237 Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355] PTEN P60484 VAR_018104 p.Cys124Ser LP/P rs121909223 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_018105 p.Val217Ile US rs121909234 Malignant melanoma PTEN P60484 VAR_018106 p.Arg234Gln LP/P rs121909235 Glioma 2 (GLM2) [MIM:613028] PTEN P60484 VAR_025167 p.Val290Leu LB/B rs35600253 - PTEN P60484 VAR_026248 p.Ser10Asn US - - PTEN P60484 VAR_026249 p.Tyr16Cys US - - PTEN P60484 VAR_026250 p.Gly20Glu LB/B rs1064795967 - PTEN P60484 VAR_026251 p.Tyr27Ser LB/B rs886041877 - PTEN P60484 VAR_026252 p.Gly36Arg LB/B rs786204854 - PTEN P60484 VAR_026253 p.His61Arg LB/B rs398123316 - PTEN P60484 VAR_026254 p.Cys71Tyr LP/P - Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_026255 p.His93Tyr LP/P rs786204927 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_026256 p.Cys105Phe LP/P - Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_026257 p.Asp107Tyr US rs57374291 Glioblastoma PTEN P60484 VAR_026257 p.Asp107Tyr LP/P rs57374291 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_026258 p.Leu112Arg US - - PTEN P60484 VAR_026259 p.Ala121Pro US - Glioblastoma PTEN P60484 VAR_026260 p.His123Tyr LP/P rs786204931 Endometrial cancer (ENDMC) [MIM:608089] PTEN P60484 VAR_026261 p.Arg130Gly LB/B rs121909224 - PTEN P60484 VAR_026262 p.Val133Ile US - - PTEN P60484 VAR_026263 p.Tyr155Cys LP/P rs1060500126 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_026264 p.Gly165Arg US rs587782603 Glioblastoma PTEN P60484 VAR_026265 p.Thr167Pro US - Breast cancer PTEN P60484 VAR_026266 p.Ser170Asn US - - PTEN P60484 VAR_026267 p.Arg173Cys LB/B rs121913293 - PTEN P60484 VAR_026268 p.Arg173His LB/B rs121913294 - PTEN P60484 VAR_026269 p.Arg173Pro LB/B rs121913294 - PTEN P60484 VAR_026270 p.Tyr174Asn LB/B rs587782316 - PTEN P60484 VAR_026271 p.Val191Ala US - - PTEN P60484 VAR_026272 p.Ser227Phe LB/B rs905615413 - PTEN P60484 VAR_026273 p.Gly251Cys US - - PTEN P60484 VAR_026275 p.Asp331Gly LP/P - Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_026276 p.Phe341Val LP/P rs1554825652 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_026277 p.Lys342Asn LP/P rs398123314 Cowden syndrome 1 (CWS1) [MIM:158350] PTEN P60484 VAR_026278 p.Leu345Gln US - Glioblastoma PTEN P60484 VAR_026279 p.Thr348Ile US - - PTEN P60484 VAR_026280 p.Val369Gly US - - PTEN P60484 VAR_026281 p.Thr401Ile US - - PTEN P60484 VAR_032634 p.His93Arg LP/P rs121909238 Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309] PTEN P60484 VAR_032635 p.Gly132Val US rs121909241 One patient with clinical findings suggesting hamartoma tumor syndrome PTEN P60484 VAR_032636 p.Phe241Ser LP/P rs121909240 Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309] PTEN P60484 VAR_032637 p.Asp252Gly LP/P rs121909239 Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309] PTEN P60484 VAR_076551 p.Ala126Gly US - A patient with prostate cancer PTEN P60484 VAR_076762 p.Thr131Ile LP/P rs397514560 Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309] PTEN P60484 VAR_076763 p.Thr167Asn LP/P rs397514559 Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309] PTER Q96BW5 VAR_051610 p.Glu97Gly LB/B rs36023740 - PTF1A Q7RTS3 VAR_049548 p.Ser263Pro LB/B rs7918487 - PTGDR Q13258 VAR_033482 p.Arg7Cys LB/B rs41311442 - PTGDR Q13258 VAR_033483 p.Glu301Ala LB/B rs41312504 - PTGDR Q13258 VAR_054975 p.Gly198Glu LB/B rs41312444 - PTGDR Q13258 VAR_054976 p.Arg332Gln LB/B rs41312506 - PTGDR2 Q9Y5Y4 VAR_063131 p.Val204Ala LB/B rs2467642 - PTGDS P41222 VAR_004273 p.Arg56Gln LB/B rs11552179 - PTGER1 P34995 VAR_017190 p.Ala71Thr LB/B rs1057362 - PTGER1 P34995 VAR_029216 p.Thr223Met LB/B rs28364042 - PTGER1 P34995 VAR_029217 p.His256Arg LB/B rs7249305 - PTGER3 P43115 VAR_014694 p.Met169Leu LB/B rs5670 - PTGER3 P43115 VAR_014695 p.Pro375Leu LB/B rs5694 - PTGER3 P43115 VAR_029218 p.Asn366Ser LB/B rs13306014 - PTGER3 P43115 VAR_049436 p.Thr319Met LB/B rs13306020 - PTGES2 Q9H7Z7 VAR_049494 p.Arg298His LB/B rs13283456 - PTGFRN Q9P2B2 VAR_024496 p.Val837Ile LB/B rs10801922 - PTGFRN Q9P2B2 VAR_059388 p.Ser277Thr LB/B rs4546904 - PTGIR P43119 VAR_024260 p.Val25Met LB/B rs2229127 - PTGIR P43119 VAR_061226 p.Ser319Trp LB/B rs28590598 - PTGIS Q16647 VAR_010915 p.Pro38Leu LB/B rs1173082660 - PTGIS Q16647 VAR_010916 p.Ser118Arg LB/B rs5622 - PTGIS Q16647 VAR_010917 p.Arg379Ser LB/B rs56195291 - PTGIS Q16647 VAR_014634 p.Glu154Ala LB/B rs5623 - PTGIS Q16647 VAR_014635 p.Phe171Leu LB/B rs5624 - PTGIS Q16647 VAR_014636 p.Arg236Cys LB/B rs5626 - PTGIS Q16647 VAR_014637 p.Pro500Ser LB/B rs5584 - PTGIS Q16647 VAR_073186 p.Ala447Thr LB/B rs146531327 - PTGR1 Q14914 VAR_023111 p.Ala27Ser LB/B rs1053959 - PTGR3 Q8N4Q0 VAR_048202 p.Cys323Phe LB/B rs17056661 - PTGS1 P23219 VAR_013451 p.Trp8Arg LB/B rs1236913 - PTGS1 P23219 VAR_013452 p.Pro17Leu LB/B rs3842787 - PTGS1 P23219 VAR_013453 p.Lys359Arg LB/B rs5791 - PTGS1 P23219 VAR_013454 p.Ile443Val LB/B rs5792 - PTGS1 P23219 VAR_019161 p.Arg53His LB/B rs3842789 - PTGS1 P23219 VAR_019162 p.Arg149Leu LB/B rs10306140 - PTGS1 P23219 VAR_019163 p.Leu237Met LB/B rs5789 - PTGS1 P23219 VAR_028017 p.Val481Ile LB/B rs5794 - PTGS1 P23219 VAR_056663 p.Lys185Thr LB/B rs3842792 - PTGS1 P23219 VAR_056664 p.Lys341Arg LB/B rs3842799 - PTGS2 P35354 VAR_011980 p.Glu488Gly LB/B rs5272 - PTGS2 P35354 VAR_011981 p.Val511Ala LB/B rs5273 - PTGS2 P35354 VAR_016262 p.Arg228His LB/B rs3218622 - PTGS2 P35354 VAR_016263 p.Pro428Ala LB/B rs4648279 - PTGS2 P35354 VAR_016264 p.Gly587Arg LB/B rs3218625 - PTH P01270 VAR_006047 p.Cys18Arg LP/P rs104894271 Hypoparathyroidism, familial isolated, 1 (FIH1) [MIM:146200] PTH P01270 VAR_018464 p.Ser23Pro LP/P rs104894272 Hypoparathyroidism, familial isolated, 1 (FIH1) [MIM:146200] PTH1R Q03431 VAR_003582 p.His223Arg LP/P rs121434597 Metaphyseal chondrodysplasia, Jansen type (MCDJ) [MIM:156400] PTH1R Q03431 VAR_003583 p.Thr410Pro LP/P rs121434598 Metaphyseal chondrodysplasia, Jansen type (MCDJ) [MIM:156400] PTH1R Q03431 VAR_016062 p.Pro132Leu LP/P rs121434599 Chondrodysplasia Blomstrand type (BOCD) [MIM:215045] PTH1R Q03431 VAR_016063 p.Arg150Cys LB/B rs121434601 - PTH1R Q03431 VAR_016064 p.Ile458Arg LP/P rs121434600 Metaphyseal chondrodysplasia, Jansen type (MCDJ) [MIM:156400] PTH1R Q03431 VAR_038811 p.Thr410Arg LP/P rs121434602 Metaphyseal chondrodysplasia, Jansen type (MCDJ) [MIM:156400] PTHLH P12272 VAR_036433 p.Ser169Thr US - A breast cancer sample PTHLH P12272 VAR_063711 p.Leu44Pro LP/P rs267606986 Brachydactyly E2 (BDE2) [MIM:613382] PTHLH P12272 VAR_063712 p.Leu60Pro LP/P rs267606985 Brachydactyly E2 (BDE2) [MIM:613382] PTK2 Q05397 VAR_041682 p.His292Pro LB/B - - PTK2 Q05397 VAR_041683 p.His292Gln LB/B - - PTK2 Q05397 VAR_041684 p.Val793Ala US - A glioblastoma multiforme sample PTK2 Q05397 VAR_041685 p.Asp1030Glu LB/B - - PTK2 Q05397 VAR_041686 p.Lys1044Glu US - A metastatic melanoma sample PTK2B Q14289 VAR_020284 p.Lys838Thr LB/B rs751019 - PTK2B Q14289 VAR_041687 p.Gln359Glu LB/B rs56175011 - PTK2B Q14289 VAR_041688 p.Arg698His LB/B rs35174236 - PTK2B Q14289 VAR_041689 p.Leu808Pro LB/B rs55747955 - PTK2B Q14289 VAR_041690 p.Glu970Lys LB/B rs56263944 - PTK6 Q13882 VAR_041760 p.Leu16Phe US - - PTK6 Q13882 VAR_041761 p.Ala436Thr LB/B rs56145017 - PTK7 Q13308 VAR_041502 p.Arg276His LB/B rs56188167 - PTK7 Q13308 VAR_041503 p.Thr410Ser LB/B rs34021075 - PTK7 Q13308 VAR_041504 p.Glu745Asp LB/B rs9472017 - PTK7 Q13308 VAR_041505 p.Glu766Gln LB/B rs56216742 - PTK7 Q13308 VAR_041506 p.Ala777Val LB/B rs34764696 - PTK7 Q13308 VAR_041507 p.His783Arg LB/B rs55820547 - PTK7 Q13308 VAR_041508 p.Ala933Val US - A colorectal adenocarcinoma sample PTK7 Q13308 VAR_041509 p.Pro1029Thr LB/B rs55755163 - PTK7 Q13308 VAR_041510 p.Arg1038Gln LB/B rs34865794 - PTPA Q15257 VAR_028101 p.Lys28Arg LB/B rs17481693 - PTPA Q15257 VAR_028102 p.Arg208Gln LB/B rs4836639 - PTPA Q15257 VAR_028103 p.Ser357Leu LB/B rs2480452 - PTPDC1 A2A3K4 VAR_037455 p.Leu571Gln LB/B rs16909677 - PTPN1 P18031 VAR_022013 p.Gly381Ser LB/B rs16995304 - PTPN1 P18031 VAR_022014 p.Pro387Leu LB/B rs16995309 - PTPN11 Q06124 VAR_015601 p.Thr42Ala LP/P rs397507501 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015602 p.Gly60Ala LP/P rs397507509 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015603 p.Asp61Gly LP/P rs121918461 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015604 p.Asp61Asn LP/P rs397507510 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015605 p.Tyr62Asp LP/P rs121918460 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015606 p.Tyr63Cys LP/P rs121918459 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015607 p.Ala72Gly LP/P rs121918454 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015608 p.Ala72Ser LP/P rs121918453 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015609 p.Thr73Ile LP/P rs121918462 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015610 p.Glu76Asp LP/P rs397507514 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015611 p.Gln79Arg LP/P rs121918466 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015612 p.Asp106Ala LP/P rs397507517 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015613 p.Glu139Asp LP/P rs397507520 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015614 p.Tyr279Cys LP/P rs121918456 LEOPARD syndrome 1 (LPRD1) [MIM:151100] PTPN11 Q06124 VAR_015614 p.Tyr279Cys LP/P rs121918456 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015615 p.Ile282Val LP/P rs397507529 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015616 p.Phe285Ser LP/P rs121918463 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015617 p.Phe285Leu LP/P rs397507531 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015618 p.Asn308Ser LP/P rs121918455 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015619 p.Asn308Asp LP/P rs28933386 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015620 p.Ile309Val US rs201787206 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015621 p.Thr468Met LP/P rs121918457 LEOPARD syndrome 1 (LPRD1) [MIM:151100] PTPN11 Q06124 VAR_015622 p.Arg501Lys LP/P rs397507543 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015623 p.Ser502Thr LP/P rs121918458 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015624 p.Met504Val LP/P rs397507547 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015990 p.Gly60Val LB/B rs397507509 - PTPN11 Q06124 VAR_015991 p.Asp61Val LP/P rs121918461 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] PTPN11 Q06124 VAR_015992 p.Asp61Tyr LP/P rs397507510 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] PTPN11 Q06124 VAR_015993 p.Glu69Lys LP/P rs397507511 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] PTPN11 Q06124 VAR_015994 p.Phe71Lys US - Acute myeloid leukemia PTPN11 Q06124 VAR_015995 p.Phe71Leu LP/P rs397507512 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015996 p.Ala72Thr LP/P rs121918453 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] PTPN11 Q06124 VAR_015997 p.Ala72Val LP/P rs121918454 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] PTPN11 Q06124 VAR_015998 p.Glu76Ala LP/P rs121918465 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] PTPN11 Q06124 VAR_015999 p.Glu76Gly LP/P rs121918465 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] PTPN11 Q06124 VAR_016000 p.Glu76Lys LP/P rs121918464 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] PTPN11 Q06124 VAR_016001 p.Glu76Val LP/P rs121918465 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] PTPN11 Q06124 VAR_016002 p.Gly503Ala LP/P rs397507546 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] PTPN11 Q06124 VAR_016003 p.Gly503Arg LP/P rs397507545 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] PTPN11 Q06124 VAR_016003 p.Gly503Arg LP/P rs397507545 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_027183 p.Thr2Ile LP/P rs267606990 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_027184 p.Asn58Lys LP/P rs397507506 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_027185 p.Glu69Gln LP/P rs397507511 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_027186 p.Gln79Pro LP/P - Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_027187 p.Gln256Arg LP/P rs397507523 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_027188 p.Tyr279Ser LP/P rs121918456 LEOPARD syndrome 1 (LPRD1) [MIM:151100] PTPN11 Q06124 VAR_027189 p.Thr411Met LP/P rs121918467 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_027190 p.Ala461Thr LP/P rs121918468 LEOPARD syndrome 1 (LPRD1) [MIM:151100] PTPN11 Q06124 VAR_027191 p.Gly464Ala LP/P rs121918469 LEOPARD syndrome 1 (LPRD1) [MIM:151100] PTPN11 Q06124 VAR_027192 p.Arg498Leu LP/P rs397507542 LEOPARD syndrome 1 (LPRD1) [MIM:151100] PTPN11 Q06124 VAR_027193 p.Arg498Trp LP/P rs397507541 LEOPARD syndrome 1 (LPRD1) [MIM:151100] PTPN11 Q06124 VAR_027194 p.Gln506Pro LP/P rs397509345 LEOPARD syndrome 1 (LPRD1) [MIM:151100] PTPN11 Q06124 VAR_027195 p.Gln506Arg LP/P - Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_027196 p.Gln510Pro LP/P rs121918470 LEOPARD syndrome 1 (LPRD1) [MIM:151100] PTPN11 Q06124 VAR_027197 p.Leu560Phe US rs397516797 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_066060 p.Thr59Ala LP/P rs886043790 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_071706 p.Pro491Ser LP/P rs397507539 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_076499 p.Gln510Glu LP/P rs397507549 LEOPARD syndrome 1 (LPRD1) [MIM:151100] PTPN11 Q06124 VAR_076499 p.Gln510Glu LP/P rs397507549 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_078101 p.Leu261Phe LP/P rs397507525 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_078102 p.Leu261His LP/P rs765642157 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_078103 p.Leu262Phe LP/P - Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_078104 p.Leu262Arg LP/P rs397507526 Noonan syndrome 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_078105 p.Arg265Gln LP/P rs376607329 Noonan syndrome 1 (NS1) [MIM:163950] PTPN12 Q05209 VAR_006385 p.Lys61Arg US rs121434623 Colon cancer PTPN12 Q05209 VAR_019512 p.Val322Ile LB/B rs9640663 - PTPN12 Q05209 VAR_020297 p.Thr573Ala LB/B rs3750050 - PTPN12 Q05209 VAR_057129 p.Glu706Lys LB/B rs2230602 - PTPN13 Q12923 VAR_016200 p.Leu1419Pro LB/B rs749353184 - PTPN13 Q12923 VAR_016201 p.Ile1522Met LB/B rs2230600 - PTPN13 Q12923 VAR_024373 p.Glu1625Lys LB/B rs12500797 - PTPN13 Q12923 VAR_024374 p.Tyr2081Asp LB/B rs989902 - PTPN13 Q12923 VAR_048359 p.Phe1356Leu LB/B rs10033029 - PTPN13 Q12923 VAR_048360 p.Ser1744Pro LB/B rs17012064 - PTPN13 Q12923 VAR_048361 p.Ile2458Val LB/B rs34226837 - PTPN14 Q15678 VAR_035849 p.Gln159Glu US - A breast cancer sample PTPN14 Q15678 VAR_035850 p.His360Pro US rs112523432 A breast cancer sample PTPN14 Q15678 VAR_046995 p.Val505Phe LB/B rs12239356 - PTPN18 Q99952 VAR_047651 p.Met193Val LB/B rs3739124 - PTPN21 Q16825 VAR_055539 p.Lys906Asn LB/B rs12879993 - PTPN21 Q16825 VAR_060341 p.Leu385Phe LB/B rs2401751 - PTPN21 Q16825 VAR_060342 p.Val936Ala LB/B rs2274736 - PTPN22 Q9Y2R2 VAR_022605 p.Arg620Trp LB/B rs2476601 - PTPN22 Q9Y2R2 VAR_072629 p.Ser201Phe LB/B rs7416347 - PTPN22 Q9Y2R2 VAR_072630 p.Arg263Gln LB/B rs33996649 - PTPN22 Q9Y2R2 VAR_072631 p.Arg266Trp LB/B rs72650670 - PTPN23 Q9H3S7 VAR_022682 p.Ala944Thr LB/B rs6780013 - PTPN23 Q9H3S7 VAR_022683 p.Pro1099Ser LB/B rs149563514 - PTPN23 Q9H3S7 VAR_084289 p.Arg232Gln US rs577689618 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) [MIM:618890] PTPN23 Q9H3S7 VAR_084290 p.Met302Val US rs748601492 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) [MIM:618890] PTPN23 Q9H3S7 VAR_084291 p.Arg431Trp US rs150712932 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) [MIM:618890] PTPN23 Q9H3S7 VAR_084292 p.Pro532Leu LP/P rs1401681748 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) [MIM:618890] PTPN23 Q9H3S7 VAR_084293 p.Lys583Arg US rs147293860 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) [MIM:618890] PTPN23 Q9H3S7 VAR_084294 p.Asn634Lys LP/P - Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) [MIM:618890] PTPN23 Q9H3S7 VAR_084295 p.Pro829Leu US rs138076291 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) [MIM:618890] PTPN23 Q9H3S7 VAR_084297 p.His894Tyr US rs967738491 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) [MIM:618890] PTPN23 Q9H3S7 VAR_084298 p.Gln916Arg US rs770692989 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) [MIM:618890] PTPN23 Q9H3S7 VAR_084300 p.Gln1017His US rs201017613 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) [MIM:618890] PTPN23 Q9H3S7 VAR_084302 p.Glu1250Lys US rs148689441 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) [MIM:618890] PTPN23 Q9H3S7 VAR_084304 p.Arg1332Leu US rs730882229 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) [MIM:618890] PTPN3 P26045 VAR_055252 p.Asp77Asn LB/B rs35285139 - PTPN3 P26045 VAR_055253 p.Ala90Pro LB/B rs3793524 - PTPN3 P26045 VAR_055254 p.Thr409Ala LB/B rs10979858 - PTPN3 P26045 VAR_055255 p.Phe605Leu LB/B rs7859962 - PTPN3 P26045 VAR_055256 p.Asp763Asn LB/B rs10116806 - PTPN4 P29074 VAR_061033 p.Thr924Ser LB/B rs3189128 - PTPN5 P54829 VAR_054369 p.Pro170Ala LB/B rs4757707 - PTPN5 P54829 VAR_054370 p.His561Arg LB/B rs11024773 - PTPRA P18433 VAR_057134 p.Pro109Leu LB/B rs1178027 - PTPRB P23467 VAR_057135 p.Val395Ala LB/B rs36027530 - PTPRB P23467 VAR_057136 p.Asp415Glu LB/B rs2165627 - PTPRB P23467 VAR_057137 p.Thr939Met LB/B rs2304821 - PTPRB P23467 VAR_057138 p.Thr1032Ile LB/B rs34902691 - PTPRB P23467 VAR_057139 p.Gly1934Ala LB/B rs17226367 - PTPRB P23467 VAR_062251 p.Arg94Lys LB/B rs2252784 - PTPRB P23467 VAR_062252 p.Ser127Gly LB/B rs2465811 - PTPRC P08575 VAR_020303 p.Ser1285Arg LB/B rs2298872 - PTPRC P08575 VAR_035653 p.Glu230Ala US - A breast cancer sample PTPRC P08575 VAR_035654 p.Gly865Arg US - A breast cancer sample PTPRC P08575 VAR_036860 p.Thr193Ala LB/B rs4915154 - PTPRC P08575 VAR_051763 p.Ile296Leu LB/B rs2230606 - PTPRC P08575 VAR_051764 p.Thr423Ile LB/B rs6696162 - PTPRC P08575 VAR_051765 p.His570Gln LB/B rs12136658 - PTPRCAP Q14761 VAR_061698 p.Gly128Glu LB/B rs60969594 - PTPRD P23468 VAR_024581 p.Gln447Glu LB/B rs10977171 - PTPRD P23468 VAR_035645 p.Arg28Gln US rs1353675904 A colorectal cancer sample PTPRD P23468 VAR_035646 p.Leu276Pro US - A colorectal cancer sample PTPRD P23468 VAR_035647 p.Val901Ala US - A colorectal cancer sample PTPRD P23468 VAR_051761 p.Glu1078Asp LB/B rs7869444 - PTPRD P23468 VAR_061761 p.Arg995Cys LB/B rs35929428 - PTPRF P10586 VAR_020299 p.Tyr450Cys LB/B rs3748796 - PTPRF P10586 VAR_020300 p.Asp562Asn LB/B rs3748800 - PTPRF P10586 VAR_054766 p.Ala412Val LB/B rs1065775 - PTPRG P23470 VAR_020301 p.Gly574Ser LB/B rs2292245 - PTPRG P23470 VAR_031562 p.Gln639Arg LB/B rs9870460 - PTPRG P23470 VAR_070892 p.Tyr92His LB/B rs62620047 - PTPRH Q9HD43 VAR_038918 p.His348Tyr LB/B rs2288515 - PTPRH Q9HD43 VAR_038919 p.Leu543Phe LB/B rs16986309 - PTPRH Q9HD43 VAR_038920 p.Lys781Asn LB/B rs2288523 - PTPRH Q9HD43 VAR_038921 p.Glu823Lys LB/B rs890870 - PTPRH Q9HD43 VAR_038922 p.Ile1076Val LB/B rs2288419 - PTPRH Q9HD43 VAR_061762 p.Asp232Asn LB/B rs55870162 - PTPRH Q9HD43 VAR_061763 p.Val243Ile LB/B rs45535035 - PTPRH Q9HD43 VAR_061764 p.Gly831Asp LB/B rs36092369 - PTPRJ Q12913 VAR_015905 p.Arg214Cys US rs121434507 A colon cancer sample PTPRJ Q12913 VAR_015906 p.Gln276Pro US rs1566734 A colon cancer sample PTPRJ Q12913 VAR_024582 p.Arg326Gln LB/B rs1503185 - PTPRJ Q12913 VAR_038414 p.Ala293Thr LB/B rs2229701 - PTPRJ Q12913 VAR_038415 p.Val372Ile LB/B rs2229703 - PTPRJ Q12913 VAR_038416 p.Glu872Asp LB/B rs4752904 - PTPRJ Q12913 VAR_038417 p.Ile1235Thr LB/B rs11039554 - PTPRM P28827 VAR_046634 p.Ser39Arg LB/B rs35224276 - PTPRN Q16849 VAR_051762 p.Ser419Arg LB/B rs35314717 - PTPRN2 Q92932 VAR_020302 p.Ser325Asn LB/B rs1130499 - PTPRN2 Q92932 VAR_022015 p.Val343Met LB/B rs3752368 - PTPRN2 Q92932 VAR_027955 p.Ser140Thr LB/B rs3800855 - PTPRN2 Q92932 VAR_027956 p.Arg213His LB/B rs1130496 - PTPRN2 Q92932 VAR_035648 p.Glu716Lys US rs577236042 A colorectal cancer sample PTPRN2 Q92932 VAR_046301 p.Ser208Pro LB/B rs1130495 - PTPRN2 Q92932 VAR_046302 p.Leu388His LB/B rs7456452 - PTPRQ Q9UMZ3 VAR_034970 p.Thr1040Ile LB/B rs12316867 - PTPRQ Q9UMZ3 VAR_034971 p.Phe1098Leu LB/B rs6539524 - PTPRQ Q9UMZ3 VAR_034972 p.Ala1120Pro LB/B rs7975340 - PTPRQ Q9UMZ3 VAR_034973 p.Asn1244Asp LB/B rs17713202 - PTPRQ Q9UMZ3 VAR_034974 p.Ile1734Thr LB/B rs7963963 - PTPRQ Q9UMZ3 VAR_034975 p.Arg2121Lys LB/B rs1163042 - PTPRQ Q9UMZ3 VAR_063526 p.Arg281Gly LP/P - Deafness, autosomal recessive, 84A (DFNB84A) [MIM:613391] PTPRQ Q9UMZ3 VAR_069041 p.Gln471Glu LB/B rs61729287 - PTPRR Q15256 VAR_014283 p.Lys314Arg LB/B rs3803036 - PTPRR Q15256 VAR_057140 p.Tyr249His LB/B rs35987017 - PTPRR Q15256 VAR_057141 p.Val386Ile LB/B rs35387004 - PTPRR Q15256 VAR_057142 p.Val439Ile LB/B rs35390084 - PTPRS Q13332 VAR_035649 p.Thr996Met US rs775778266 A colorectal cancer sample PTPRS Q13332 VAR_047277 p.Cys1457Arg LB/B rs4807697 - PTPRT O14522 VAR_020746 p.Phe74Ser US - A colorectal cancer PTPRT O14522 VAR_020747 p.Ala209Thr US - Some colorectal cancers PTPRT O14522 VAR_020748 p.Lys218Thr US - A gastric cancer PTPRT O14522 VAR_020749 p.Phe248Ser US - A colorectal cancer PTPRT O14522 VAR_020750 p.Tyr280His US - A colorectal cancer PTPRT O14522 VAR_020751 p.Ile395Val US - A colorectal cancer PTPRT O14522 VAR_020752 p.Tyr412Phe US - A colorectal cancer PTPRT O14522 VAR_020753 p.Arg453Cys US rs1371429276 A gastric cancer PTPRT O14522 VAR_020754 p.Asn510Lys US rs749647294 A colorectal cancer PTPRT O14522 VAR_020755 p.Thr605Met US rs1217327426 A colorectal cancer PTPRT O14522 VAR_020756 p.Val648Gly US - A colorectal cancer PTPRT O14522 VAR_020757 p.Ala707Thr US - A colorectal cancer PTPRT O14522 VAR_020758 p.Ala707Val US - A colorectal cancer PTPRT O14522 VAR_020759 p.Leu708Pro US - A colorectal cancer PTPRT O14522 VAR_020760 p.Arg771Ile US - A lung cancer PTPRT O14522 VAR_020761 p.Asp905Gly US - A colorectal cancer PTPRT O14522 VAR_020762 p.Gln965Lys US - A colorectal cancer PTPRT O14522 VAR_020763 p.Ala1096Pro US - A colorectal cancer PTPRT O14522 VAR_020764 p.Asn1106Ile US - A colorectal cancer PTPRT O14522 VAR_020765 p.Arg1190Trp US rs370873414 A colorectal cancer PTPRT O14522 VAR_020766 p.Met1237Leu US - A colorectal cancer PTPRT O14522 VAR_020767 p.Val1247Met US rs761148007 A colorectal cancer PTPRT O14522 VAR_020768 p.Arg1324Leu US - A lung cancer PTPRT O14522 VAR_020769 p.Tyr1329Phe US rs1568910321 A colorectal cancer PTPRT O14522 VAR_020770 p.Thr1346Met US rs199947379 - PTPRT O14522 VAR_028795 p.Ala29Pro LB/B rs2867655 - PTPRT O14522 VAR_028796 p.Met76Val LB/B rs17811401 - PTPRT O14522 VAR_054144 p.Pro1213Leu US - An acute myeloid leukemia sample PTPRU Q92729 VAR_035650 p.His830Tyr US - A colorectal cancer sample PTPRU Q92729 VAR_035651 p.Arg835Trp US rs558954146 A colorectal cancer sample PTPRU Q92729 VAR_035652 p.Arg856Cys US rs763868325 A colorectal cancer sample PTPRU Q92729 VAR_055075 p.Thr60Asn LB/B rs35332573 - PTPRU Q92729 VAR_055076 p.Arg471Leu LB/B rs35745442 - PTPRU Q92729 VAR_055077 p.Asn940Ser LB/B rs2235937 - PTPRZ1 P23471 VAR_038942 p.Ile3Ser LB/B rs740965 - PTPRZ1 P23471 VAR_038943 p.Arg6Leu LB/B rs11980387 - PTPRZ1 P23471 VAR_038944 p.Gly1433Asp LB/B rs1147504 - PTRH2 Q9Y3E5 VAR_073386 p.Gln85Pro LP/P rs730882234 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 (IMNEPD1) [MIM:616263] PTRHD1 Q6GMV3 VAR_078547 p.Cys52Tyr US rs781442277 - PTRHD1 Q6GMV3 VAR_078548 p.His53Tyr US rs1057519631 - PTS Q03393 VAR_006816 p.Arg16Cys LP/P rs104894274 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006817 p.Arg25Gly LP/P rs1167104933 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006818 p.Arg25Gln LP/P rs104894273 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006819 p.Glu35Gly LP/P rs1328320990 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006820 p.Asn36Lys LP/P rs1449216377 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006821 p.Asn52Ser LP/P rs104894275 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006822 p.Val56Met LP/P rs104894277 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006824 p.Thr67Met LP/P rs370340361 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006825 p.Val70Asp LP/P rs1592880489 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006826 p.Pro87Leu LP/P rs765406631 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006827 p.Pro87Ser LP/P rs104894276 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006828 p.Asp96Asn LP/P rs104894280 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006829 p.Phe100Val LP/P - Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006830 p.Thr106Met LP/P rs200712908 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006831 p.Ile114Val LP/P rs1555198495 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006832 p.Lys129Glu LP/P rs1040441824 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006833 p.Asp136Val LP/P - Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_008040 p.Asn47Asp LP/P rs104894278 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_008041 p.Asp116Gly LP/P rs104894279 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_058265 p.Leu26Phe LP/P rs1317230624 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_058266 p.Val97Met LP/P rs750455879 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_058267 p.Tyr99Cys LP/P rs1555198458 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_058268 p.Val124Leu LP/P rs150726932 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTS Q03393 VAR_058269 p.Asp136Gly LP/P rs1859972447 Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] PTTG2 Q9NZH5 VAR_038956 p.Arg44Pro LB/B rs6811863 - PTX3 P26022 VAR_043140 p.His39Gln LB/B rs34655398 - PTX3 P26022 VAR_043141 p.Ala48Asp LB/B rs3816527 - PTX3 P26022 VAR_043142 p.Ala290Val LB/B rs35415718 - PTX3 P26022 VAR_043143 p.Glu313Lys LB/B rs4478039 - PTX4 Q96A99 VAR_039249 p.Arg92Trp LB/B rs2745101 - PTX4 Q96A99 VAR_039250 p.Arg220Gly LB/B rs2667673 - PTX4 Q96A99 VAR_039251 p.Arg234Gln LB/B rs12445920 - PTX4 Q96A99 VAR_039252 p.Arg281Lys LB/B rs2745098 - PTX4 Q96A99 VAR_039253 p.Ala317Ser LB/B rs13332460 - PTX4 Q96A99 VAR_060084 p.Gly2Glu LB/B rs2745103 - PTX4 Q96A99 VAR_062130 p.Ile444Val LB/B rs59554810 - PUDP Q08623 VAR_060625 p.Pro165Ala LB/B rs3747386 - PUDP Q08623 VAR_061094 p.Thr88Met LB/B rs1131197 - PUF60 Q9UHX1 VAR_070939 p.His169Tyr LP/P rs398123001 Verheij syndrome (VRJS) [MIM:615583] PUM1 Q14671 VAR_080784 p.Thr1033Ser LP/P rs771145682 Spinocerebellar ataxia 47 (SCA47) [MIM:617931] PUM1 Q14671 VAR_080785 p.Arg1137Trp LP/P rs1557541619 Spinocerebellar ataxia 47 (SCA47) [MIM:617931] PUM1 Q14671 VAR_080786 p.Arg1145Trp LP/P rs1557539450 Spinocerebellar ataxia 47 (SCA47) [MIM:617931] PUM2 Q8TB72 VAR_057100 p.Asn367Ser LB/B rs34032508 - PUM3 Q15397 VAR_023772 p.Arg289Pro LB/B rs2173904 - PUM3 Q15397 VAR_023773 p.Val297Leu LB/B rs2270891 - PUM3 Q15397 VAR_051613 p.Ser13Asn LB/B rs10968457 - PUM3 Q15397 VAR_051614 p.Ile264Val LB/B rs35869387 - PUM3 Q15397 VAR_051615 p.Thr414Ser LB/B rs3736390 - PUM3 Q15397 VAR_051616 p.Arg480Gln LB/B rs2270889 - PURA Q00577 VAR_072699 p.Ala89Pro LP/P rs587782999 Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF) [MIM:616158] PURA Q00577 VAR_072700 p.Lys97Glu LP/P rs587782994 Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF) [MIM:616158] PURA Q00577 VAR_072701 p.Leu100Pro LP/P rs587782995 Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF) [MIM:616158] PURA Q00577 VAR_072702 p.Met157Lys LP/P rs587782998 Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF) [MIM:616158] PURA Q00577 VAR_072703 p.Arg199Pro LP/P rs587783001 Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF) [MIM:616158] PURA Q00577 VAR_073993 p.Ile206Phe LP/P rs786204834 Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF) [MIM:616158] PURG Q9UJV8 VAR_036317 p.Lys316Thr US - A breast cancer sample PURG Q9UJV8 VAR_053613 p.Ser26Gly LB/B rs11574153 - PURG Q9UJV8 VAR_053614 p.Glu143Lys LB/B rs7464560 - PURG Q9UJV8 VAR_053615 p.Glu241Ala LB/B rs11574151 - PUS1 Q9Y606 VAR_021788 p.Arg144Trp LP/P rs104894371 Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM:600462] PUS1 Q9Y606 VAR_036447 p.Asp133Asn LB/B rs76655496 - PUS1 Q9Y606 VAR_086155 p.Gln101Arg US rs753164046 Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM:600462] PUS1 Q9Y606 VAR_086157 p.Arg295Gln US rs1045133170 Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM:600462] PUS1 Q9Y606 VAR_086158 p.Arg295Trp US rs869025309 Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM:600462] PUS10 Q3MIT2 VAR_035617 p.Thr484Ile US rs1486089321 A colorectal cancer sample PUS3 Q9BZE2 VAR_030836 p.Tyr3Asp LB/B rs622756 - PUS3 Q9BZE2 VAR_030837 p.Ala46Ser LB/B rs549990 - PUS3 Q9BZE2 VAR_030838 p.Glu460Asp LB/B rs3088241 - PUS7 Q96PZ0 VAR_082042 p.Asp503Tyr LP/P - Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature (IDDABS) [MIM:618342] PUS7 Q96PZ0 VAR_086160 p.Gly128Arg US - Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature (IDDABS) [MIM:618342] PUS7 Q96PZ0 VAR_086161 p.Thr387Met US - Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature (IDDABS) [MIM:618342] PUS7L Q9H0K6 VAR_038392 p.Ile92Met LB/B rs33999797 - PUS7L Q9H0K6 VAR_038393 p.Lys264Glu LB/B rs1057190 - PUS7L Q9H0K6 VAR_038394 p.Ile343Val LB/B rs34668377 - PUSL1 Q8N0Z8 VAR_034424 p.Arg103Gln LB/B rs12094447 - PUSL1 Q8N0Z8 VAR_051869 p.Arg197Trp LB/B rs34738574 - PVR P15151 VAR_003952 p.Ala67Thr LB/B rs1058402 - PVR P15151 VAR_011736 p.Ile340Met LB/B rs203710 - PVR P15151 VAR_049994 p.Ala295Thr LB/B rs35365841 - PVRIG Q6DKI7 VAR_043624 p.Asn81Asp LB/B rs2906645 - PWP1 Q13610 VAR_033808 p.Leu288Phe LB/B rs11547907 - PWP2 Q15269 VAR_028104 p.Asp25Asn LB/B rs2020945 - PWP2 Q15269 VAR_028105 p.Phe551Ile LB/B rs17856422 - PWP2 Q15269 VAR_053412 p.Glu174Lys LB/B rs35001460 - PWWP2B Q6NUJ5 VAR_037233 p.Arg89Cys LB/B rs11146363 - PWWP2B Q6NUJ5 VAR_037234 p.Arg98Gly LB/B rs10747057 - PWWP3A Q2TAK8 VAR_033195 p.Gly219Arg LB/B rs3826942 - PWWP3A Q2TAK8 VAR_033196 p.Gly551Ala LB/B rs34502536 - PWWP3B Q5H9M0 VAR_057776 p.Gly95Asp LB/B rs12392298 - PXDC1 Q5TGL8 VAR_034643 p.Gln184His LB/B rs226959 - PXDC1 Q5TGL8 VAR_034644 p.Pro189Gln LB/B rs17855666 - PXDC1 Q5TGL8 VAR_035619 p.Glu203Gln US rs368727869 A breast cancer sample PXDN Q92626 VAR_039048 p.Gln1261Arg LB/B rs6723697 - PXDN Q92626 VAR_050487 p.Arg1198Gln LB/B rs6723697 - PXDN Q92626 VAR_071389 p.Arg880Cys LP/P rs587777572 Anterior segment dysgenesis 7 (ASGD7) [MIM:269400] PXDNL A1KZ92 VAR_050488 p.Ile343Thr LB/B rs7833909 - PXDNL A1KZ92 VAR_050489 p.Arg583Gln LB/B rs16916235 - PXDNL A1KZ92 VAR_050490 p.Asp616Ala LB/B rs16916207 - PXDNL A1KZ92 VAR_050491 p.Met981Val LB/B rs2977020 - PXDNL A1KZ92 VAR_050492 p.Val1327Asp LB/B rs11774588 - PXDNL A1KZ92 VAR_050493 p.Arg1399Lys LB/B rs7827446 - PXDNL A1KZ92 VAR_050494 p.Asp1452Glu LB/B rs1052704 - PXK Q7Z7A4 VAR_033911 p.Ala525Val LB/B rs34579268 - PXK Q7Z7A4 VAR_033912 p.Ala535Val LB/B rs34579268 - PXK Q7Z7A4 VAR_041362 p.Ile426Val LB/B rs55973253 - PXK Q7Z7A4 VAR_041363 p.Lys481Arg LB/B rs56384862 - PXMP4 Q9Y6I8 VAR_015426 p.Val204Ile LB/B rs910397 - PXN P49023 VAR_065099 p.Ser73Gly LB/B rs4767884 - PYCR1 P32322 VAR_059068 p.Arg119Gly LP/P rs121918376 Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940] PYCR1 P32322 VAR_059069 p.Arg119His LP/P rs121918377 Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940] PYCR1 P32322 VAR_059070 p.Ala179Thr LP/P rs139751598 Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940] PYCR1 P32322 VAR_059071 p.Ala189Val LB/B - - PYCR1 P32322 VAR_059072 p.Gly206Arg LP/P rs121918375 Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940] PYCR1 P32322 VAR_059073 p.Gly206Trp LP/P rs121918375 Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940] PYCR1 P32322 VAR_059074 p.Arg251His LP/P rs121918378 Cutis laxa, autosomal recessive, 3B (ARCL3B) [MIM:614438] PYCR1 P32322 VAR_059075 p.Ala257Thr LP/P rs281875318 Cutis laxa, autosomal recessive, 3B (ARCL3B) [MIM:614438] PYCR1 P32322 VAR_059076 p.Arg266Gln LP/P rs121918374 Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940] PYCR1 P32322 VAR_067600 p.Gly248Glu LP/P rs281875319 Cutis laxa, autosomal recessive, 3B (ARCL3B) [MIM:614438] PYCR1 P32322 VAR_067601 p.Gly297Arg LB/B - - PYCR2 Q96C36 VAR_074608 p.Arg119Cys LP/P rs372781135 Leukodystrophy, hypomyelinating, 10 (HLD10) [MIM:616420] PYCR2 Q96C36 VAR_074609 p.Arg251Cys LP/P rs876657403 Leukodystrophy, hypomyelinating, 10 (HLD10) [MIM:616420] PYCR3 Q53H96 VAR_039828 p.Arg57Gln LB/B rs11549789 - PYCR3 Q53H96 VAR_039829 p.Val105Met LB/B rs2242089 - PYCR3 Q53H96 VAR_039830 p.Lys150Asn LB/B rs2242090 - PYDC2 Q56P42 VAR_046150 p.Gln81Arg LB/B rs293833 - PYGB P11216 VAR_020212 p.Asp502Asn LB/B rs2227891 - PYGB P11216 VAR_034428 p.Ala303Ser LB/B rs2228976 - PYGL P06737 VAR_007907 p.Val222Ile LB/B rs946616 - PYGL P06737 VAR_007908 p.Asn339Ser LP/P rs113993976 Glycogen storage disease 6 (GSD6) [MIM:232700] PYGL P06737 VAR_007909 p.Asn377Lys LP/P rs113993977 Glycogen storage disease 6 (GSD6) [MIM:232700] PYGL P06737 VAR_013095 p.Val231Glu LB/B rs1042195 - PYGL P06737 VAR_013096 p.Arg715Ser LB/B rs1042210 - PYGL P06737 VAR_034425 p.Arg425Pro LB/B rs2228499 - PYGL P06737 VAR_034426 p.Val698Gly LB/B rs35831273 - PYGL P06737 VAR_034427 p.Ile806Leu LB/B rs34313873 - PYGL P06737 VAR_069054 p.Asn845Ser LB/B rs78558135 - PYGM P11217 VAR_003431 p.Gly205Ser LP/P rs119103251 Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_003432 p.Leu397Pro LP/P rs1005687078 Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_003433 p.Lys543Thr LP/P rs119103252 Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_003434 p.Glu655Lys LP/P rs119103253 Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014002 p.Leu116Pro LP/P rs776680924 Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014003 p.Arg194Trp LP/P rs376581557 Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014004 p.Leu292Pro LP/P rs780375860 Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014005 p.Glu349Lys LP/P - Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014006 p.Thr488Asn LP/P rs1555134900 Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014007 p.Arg602Trp LP/P rs750195683 Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014008 p.Ala660Asp LP/P - Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014009 p.Gln666Glu LP/P rs119103256 Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014010 p.Asn685Tyr LP/P - Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014011 p.Gly686Arg LP/P rs144081869 Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014012 p.Ala687Pro LP/P - Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014013 p.Ala704Val LP/P rs1483102315 Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014015 p.Trp798Arg LP/P rs119103258 Glycogen storage disease 5 (GSD5) [MIM:232600] PYGM P11217 VAR_061198 p.Arg414Gly LB/B rs11231866 - PYGO1 Q9Y3Y4 VAR_051292 p.Pro299His LB/B rs11858624 - PYM1 Q9BRP8 VAR_032297 p.Glu66Gln LB/B rs3802998 - PYROXD1 Q8WU10 VAR_077902 p.Asn155Ser LP/P rs781565158 Myopathy, myofibrillar, 8 (MFM8) [MIM:617258] PYROXD1 Q8WU10 VAR_077903 p.Gln372His LP/P rs755208949 Myopathy, myofibrillar, 8 (MFM8) [MIM:617258] PYROXD2 Q8N2H3 VAR_026877 p.Pro428Ser LB/B rs17856170 - PYROXD2 Q8N2H3 VAR_026878 p.Met461Thr LB/B rs2147896 - PYROXD2 Q8N2H3 VAR_026879 p.Ala533Thr LB/B rs2296441 - PYY P10082 VAR_006382 p.Thr72Arg LB/B rs1058046 - PYY P10082 VAR_047407 p.Arg37Gly LB/B rs229969 - PYY P10082 VAR_047408 p.Asp95His LB/B rs465407 - PYY3 Q5JQD4 VAR_044033 p.Thr28Ile LB/B rs5953365 - PZP P20742 VAR_020005 p.Val813Ala LB/B rs2277413 - PZP P20742 VAR_021845 p.Val691Met LB/B rs3213832 - PZP P20742 VAR_024358 p.Ile1443Asn LB/B rs10842971 - PZP P20742 VAR_034429 p.Leu379Val LB/B rs12230214 - PZP P20742 VAR_036235 p.Arg1128His US rs200477595 A colorectal cancer sample PZP P20742 VAR_060733 p.Asn857Ser LB/B rs3213831 - PZP P20742 VAR_060734 p.Thr1205Pro LB/B rs2377741 - PZP P20742 VAR_060982 p.Thr1003Met LB/B rs57006764 - QARS1 P47897 VAR_071189 p.Gly45Val LP/P rs587777331 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760] QARS1 P47897 VAR_071190 p.Tyr57His LP/P rs587777333 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760] QARS1 P47897 VAR_071191 p.Arg403Trp LP/P rs587777332 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760] QARS1 P47897 VAR_071192 p.Arg515Trp LP/P rs587777334 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760] QDPR P09417 VAR_006960 p.Gly23Asp LP/P rs104893863 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006961 p.Trp36Arg LP/P rs104893865 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006962 p.Leu74Pro LP/P rs1158304986 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006963 p.Trp108Gly LP/P rs104893864 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006965 p.Pro145Leu LP/P rs1560312943 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006966 p.Tyr150Cys LP/P rs104893866 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006967 p.Gly151Ser LP/P - Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006968 p.His158Tyr LP/P rs750201480 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006969 p.Gly170Ser LP/P rs769460415 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006970 p.Phe212Cys LP/P rs777797545 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] QDPR P09417 VAR_008121 p.Leu14Pro LP/P rs756639609 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] QDPR P09417 VAR_008122 p.Gly17Val LP/P - Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] QDPR P09417 VAR_013027 p.Ser51Thr LB/B - - QDPR P09417 VAR_021767 p.Gly17Arg LP/P rs757483045 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] QDPR P09417 VAR_021768 p.Gly18Asp LP/P rs1278371188 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] QDPR P09417 VAR_021769 p.Gln66Arg LP/P rs1252488251 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] QDPR P09417 VAR_021770 p.Gly149Arg LP/P rs1028029163 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] QKI Q96PU8 VAR_036051 p.Arg336Gln US rs1258390251 A colorectal cancer sample QPCT Q16769 VAR_005569 p.Gln71Arg LB/B rs895245310 - QPCT Q16769 VAR_053956 p.Arg54Trp LB/B rs2255991 - QPCT Q16769 VAR_053957 p.His360Pro LB/B rs4670696 - QPCTL Q9NXS2 VAR_034937 p.Pro214Leu LB/B rs28708996 - QPRT Q15274 VAR_021915 p.Ala158Val LB/B rs2303255 - QPRT Q15274 VAR_050219 p.Thr195Ala LB/B rs9932770 - QRFP P83859 VAR_049184 p.Leu68His LB/B rs12340616 - QRFPR Q96P65 VAR_049437 p.Phe61Val LB/B rs17438900 - QRFPR Q96P65 VAR_049438 p.His149Gln LB/B rs11947418 - QRFPR Q96P65 VAR_049439 p.Leu344Ser LB/B rs2302310 - QRICH1 Q2TAL8 VAR_084457 p.Ser736Asn US - Ververi-Brady syndrome (VERBRAS) [MIM:617982] QRICH2 Q9H0J4 VAR_051295 p.Leu202Ser LB/B rs6501880 - QRICH2 Q9H0J4 VAR_051296 p.Ile630Thr LB/B rs6501878 - QRICH2 Q9H0J4 VAR_051297 p.His906Tyr LB/B rs2279054 - QRICH2 Q9H0J4 VAR_051298 p.His974Arg LB/B rs2279053 - QRICH2 Q9H0J4 VAR_051299 p.Glu1036Gln LB/B rs2279052 - QRICH2 Q9H0J4 VAR_059711 p.Ile630Val LB/B rs6501879 - QRICH2 Q9H0J4 VAR_059712 p.Val681Asp LB/B rs6501874 - QRICH2 Q9H0J4 VAR_082019 p.Val569Glu US - Spermatogenic failure 35 (SPGF35) [MIM:618341] QRICH2 Q9H0J4 VAR_082021 p.Gln1105Lys US - Spermatogenic failure 35 (SPGF35) [MIM:618341] QRICH2 Q9H0J4 VAR_082022 p.Gly1112Glu US rs757438651 Spermatogenic failure 35 (SPGF35) [MIM:618341] QRICH2 Q9H0J4 VAR_082024 p.Met1347Val US rs775768893 Spermatogenic failure 35 (SPGF35) [MIM:618341] QRICH2 Q9H0J4 VAR_082025 p.Arg1494His US rs144208097 Spermatogenic failure 35 (SPGF35) [MIM:618341] QRSL1 Q9H0R6 VAR_038389 p.Ala11Val LB/B rs36016898 - QRSL1 Q9H0R6 VAR_038390 p.Asn263Ser LB/B rs34221917 - QRSL1 Q9H0R6 VAR_076270 p.Gly117Glu LP/P rs1777047446 Combined oxidative phosphorylation deficiency 40 (COXPD40) [MIM:618835] QRSL1 Q9H0R6 VAR_076271 p.Gly133Val LP/P rs1562168768 Combined oxidative phosphorylation deficiency 40 (COXPD40) [MIM:618835] QRSL1 Q9H0R6 VAR_083985 p.Ala427Leu US rs1562173313 Combined oxidative phosphorylation deficiency 40 (COXPD40) [MIM:618835] QSER1 Q2KHR3 VAR_032535 p.Gln644Arg LB/B rs2297781 - QSER1 Q2KHR3 VAR_032536 p.Asn1018Ser LB/B rs7940077 - QSER1 Q2KHR3 VAR_032537 p.Asn1304Asp LB/B rs16923676 - QSER1 Q2KHR3 VAR_056975 p.Val385Ile LB/B rs1022586 - QSOX1 O00391 VAR_027429 p.Asn114Ser LB/B rs3894211 - QSOX1 O00391 VAR_027430 p.Gly200Ala LB/B rs17855475 - QSOX1 O00391 VAR_027431 p.Arg256Met LB/B rs4360492 - QSOX1 O00391 VAR_027432 p.Ala294Ser LB/B rs2278943 - QSOX1 O00391 VAR_027433 p.His444Arg LB/B rs12371 - QSOX1 O00391 VAR_027434 p.Asn591His LB/B rs3738115 - QSOX1 O00391 VAR_053652 p.Arg605Pro LB/B rs16855466 - QSOX2 Q6ZRP7 VAR_027435 p.Lys126Glu LB/B rs12380852 - R3HCC1 Q9Y3T6 VAR_035420 p.Ala96Thr LB/B rs6980542 - R3HCC1 Q9Y3T6 VAR_035421 p.Arg145Lys LB/B rs3808536 - R3HCC1 Q9Y3T6 VAR_035422 p.Val307Met LB/B rs2272761 - R3HCC1 Q9Y3T6 VAR_035423 p.Leu363Arg LB/B rs13530 - R3HCC1L Q7Z5L2 VAR_023092 p.His566Arg LB/B rs11189513 - R3HCC1L Q7Z5L2 VAR_023093 p.His656Arg LB/B rs1952061 - R3HCC1L Q7Z5L2 VAR_056898 p.Ser113Pro LB/B rs12775148 - R3HCC1L Q7Z5L2 VAR_056899 p.Lys238Asn LB/B rs7922159 - R3HCC1L Q7Z5L2 VAR_056900 p.Ser261Gly LB/B rs35373035 - R3HCC1L Q7Z5L2 VAR_056901 p.Asp535Ala LB/B rs34494334 - R3HCC1L Q7Z5L2 VAR_061652 p.Pro546Ser LB/B rs35122894 - R3HDM1 Q15032 VAR_025423 p.Met270Val LB/B rs961360 - R3HDM1 Q15032 VAR_025424 p.Gln632Pro LB/B rs2305165 - R3HDM2 Q9Y2K5 VAR_059713 p.Thr35Ala LB/B rs11832661 - R3HDML Q9H3Y0 VAR_032339 p.Phe15Cys LB/B rs11699901 - R3HDML Q9H3Y0 VAR_048834 p.Asp68Asn LB/B rs36117710 - RAB11B Q15907 VAR_080598 p.Val22Met LP/P rs1555690779 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) [MIM:617807] RAB11B Q15907 VAR_080599 p.Ala68Thr LP/P rs1555690804 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) [MIM:617807] RAB11FIP1 Q6WKZ4 VAR_022447 p.Met1185Thr LB/B rs7817179 - RAB11FIP1 Q6WKZ4 VAR_056977 p.Ala768Val LB/B rs16887092 - RAB11FIP1 Q6WKZ4 VAR_059714 p.Ala651Val LB/B rs12541651 - RAB11FIP1 Q6WKZ4 VAR_069365 p.Gln622Lys LB/B rs7341564 - RAB11FIP2 Q7L804 VAR_051316 p.Phe152Val LB/B rs34028100 - RAB14 P61106 VAR_012986 p.Ala4Thr LB/B - - RAB17 Q9H0T7 VAR_022102 p.Leu191Pro LB/B rs2280289 - RAB17 Q9H0T7 VAR_051711 p.Val19Ala LB/B rs3751112 - RAB17 Q9H0T7 VAR_051712 p.Ser184Gly LB/B rs34311889 - RAB18 Q9NP72 VAR_034432 p.Ala198Thr LB/B rs11015859 - RAB18 Q9NP72 VAR_051713 p.Asn113Ser LB/B rs12268932 - RAB18 Q9NP72 VAR_066495 p.Leu24Gln LP/P rs387906832 Warburg micro syndrome 3 (WARBM3) [MIM:614222] RAB18 Q9NP72 VAR_086022 p.Thr95Met US - Warburg micro syndrome 3 (WARBM3) [MIM:614222] RAB20 Q9NX57 VAR_017158 p.Asn134Ser LB/B rs426453 - RAB23 Q9ULC3 VAR_017159 p.Gly207Ser LB/B rs1040461 - RAB23 Q9ULC3 VAR_034901 p.Lys40Arg LB/B rs45442500 - RAB23 Q9ULC3 VAR_034902 p.Cys85Arg LP/P - Carpenter syndrome 1 (CRPT1) [MIM:201000] RAB23 Q9ULC3 VAR_034903 p.Ser101Ala LB/B rs45479896 - RAB23 Q9ULC3 VAR_065294 p.Met12Lys LP/P - Carpenter syndrome 1 (CRPT1) [MIM:201000] RAB27A P51159 VAR_010654 p.Trp73Gly LP/P rs28938176 Griscelli syndrome 2 (GS2) [MIM:607624] RAB27A P51159 VAR_011334 p.Leu130Pro LP/P rs104894498 Griscelli syndrome 2 (GS2) [MIM:607624] RAB27A P51159 VAR_011335 p.Ala152Pro LP/P rs104894499 Griscelli syndrome 2 (GS2) [MIM:607624] RAB27A P51159 VAR_028206 p.Thr62Ser LB/B rs1050930 - RAB27A P51159 VAR_028207 p.Leu84Phe LB/B rs4340274 - RAB27A P51159 VAR_028208 p.Thr85Pro LB/B rs719705 - RAB27B O00194 VAR_051714 p.Ala92Thr LB/B rs9966265 - RAB2B Q8WUD1 VAR_051709 p.Asn212Thr LB/B rs17106411 - RAB33A Q14088 VAR_006849 p.Met102Thr LB/B - - RAB33B Q9H082 VAR_068854 p.Lys46Gln LP/P rs587776958 Smith-McCort dysplasia 2 (SMC2) [MIM:615222] RAB33B Q9H082 VAR_068855 p.Asn148Lys LP/P rs886044716 Smith-McCort dysplasia 2 (SMC2) [MIM:615222] RAB34 Q9BZG1 VAR_015097 p.Val197Leu LB/B rs12125 - RAB34 Q9BZG1 VAR_088676 p.Gly202Val US - - RAB34 Q9BZG1 VAR_088677 p.Arg211His US - - RAB34 Q9BZG1 VAR_088678 p.Glu218Lys US - - RAB36 O95755 VAR_024189 p.Asn242Asp LB/B rs5759612 - RAB36 O95755 VAR_051715 p.Glu254Lys LB/B rs9624038 - RAB37 Q96AX2 VAR_034434 p.Ala188Pro LB/B rs34215331 - RAB38 P57729 VAR_036415 p.Lys111Thr US - A colorectal cancer sample RAB39B Q96DA2 VAR_073264 p.Thr168Lys LP/P rs587777874 Waisman syndrome (WSMN) [MIM:311510] RAB39B Q96DA2 VAR_078515 p.Gly192Arg LP/P rs864309527 Waisman syndrome (WSMN) [MIM:311510] RAB3D O95716 VAR_051710 p.Val64Ile LB/B rs3969860 - RAB3GAP1 Q15042 VAR_051716 p.Asn598Ser LB/B rs10445686 - RAB3GAP1 Q15042 VAR_086019 p.Thr18Pro LP/P rs587777154 Warburg micro syndrome 1 (WARBM1) [MIM:600118] RAB3GAP1 Q15042 VAR_086020 p.Glu24Val LP/P rs587777155 Warburg micro syndrome 1 (WARBM1) [MIM:600118] RAB3GAP2 Q9H2M9 VAR_021588 p.Thr863Ala LB/B rs12045447 - RAB3GAP2 Q9H2M9 VAR_021589 p.Ser1092Thr LB/B rs2289189 - RAB3GAP2 Q9H2M9 VAR_029881 p.Gly1052Cys LP/P rs121434310 Martsolf syndrome 1 (MARTS1) [MIM:212720] RAB3GAP2 Q9H2M9 VAR_086021 p.Arg426Cys LP/P rs587777167 Martsolf syndrome 1 (MARTS1) [MIM:212720] RAB3IL1 Q8TBN0 VAR_035203 p.Gln49Arg LB/B rs174477 - RAB3IL1 Q8TBN0 VAR_035204 p.His323Tyr LB/B rs3815045 - RAB40A Q8WXH6 VAR_034435 p.His45Leu LB/B rs1180895 - RAB40AL P0C0E4 VAR_068916 p.Asp59Gly LB/B rs145606134 - RAB5C P51148 VAR_036414 p.Arg40His US rs1280509335 A colorectal cancer sample RAB6C Q9H0N0 VAR_038161 p.Ala159Thr LB/B rs4662674 - RAB7A P51149 VAR_018722 p.Leu129Phe LP/P rs121909078 Charcot-Marie-Tooth disease, axonal, 2B (CMT2B) [MIM:600882] RAB7A P51149 VAR_018723 p.Val162Met LP/P rs121909079 Charcot-Marie-Tooth disease, axonal, 2B (CMT2B) [MIM:600882] RAB7A P51149 VAR_037886 p.Lys32Glu LB/B rs11549759 - RAB7A P51149 VAR_037887 p.Lys157Asn LP/P rs121909081 Charcot-Marie-Tooth disease, axonal, 2B (CMT2B) [MIM:600882] RAB7A P51149 VAR_037888 p.Asn161Thr LP/P rs121909080 Charcot-Marie-Tooth disease, axonal, 2B (CMT2B) [MIM:600882] RABEP1 Q15276 VAR_028106 p.Glu640Gly LB/B rs3026099 - RABEPK Q7Z6M1 VAR_031175 p.Arg60Gly LB/B rs17855990 - RABEPK Q7Z6M1 VAR_031176 p.Thr67Pro LB/B rs13302050 - RABEPK Q7Z6M1 VAR_031177 p.His73Tyr LB/B rs1128362 - RABEPK Q7Z6M1 VAR_031178 p.Asp313Gly LB/B rs17849326 - RABEPK Q7Z6M1 VAR_031179 p.Met333Ile LB/B rs15233 - RABEPK Q7Z6M1 VAR_050058 p.Pro58Ala LB/B rs13302059 - RABEPK Q7Z6M1 VAR_050059 p.Ser95Cys LB/B rs34991596 - RABGAP1L Q5R372 VAR_052533 p.Ser277Gly LB/B rs7339904 - RABGGTA Q92696 VAR_020406 p.Thr420Ala LB/B rs729421 - RABL3 Q5HYI8 VAR_083454 p.Arg184Gln LP/P rs61756477 Pancreatic cancer 5 (PNCA5) [MIM:618680] RABL6 Q3YEC7 VAR_030210 p.Glu382Gln LB/B rs2811741 - RAC1 P63000 VAR_014540 p.Asn26Asp LB/B rs5830 - RAC1 P63000 VAR_014541 p.Phe28Leu LB/B rs5832 - RAC1 P63000 VAR_014542 p.Ala59Thr LB/B rs5837 - RAC1 P63000 VAR_014543 p.Asp63Gly LB/B rs5831 - RAC1 P63000 VAR_014544 p.Val93Ile LB/B rs5825 - RAC1 P63000 VAR_014545 p.Val93Gly LB/B rs5826 - RAC1 P63000 VAR_014546 p.Thr108Ile LB/B rs5838 - RAC1 P63000 VAR_014547 p.Lys130Arg LB/B rs5828 - RAC1 P63000 VAR_014548 p.Lys133Glu LB/B rs5835 - RAC1 P63000 VAR_014549 p.Pro180Ser LB/B rs16063 - RAC1 P63000 VAR_014550 p.Val182Glu LB/B rs5836 - RAC1 P63000 VAR_033303 p.Thr135Ile LB/B rs11540455 - RAC1 P63000 VAR_080454 p.Cys18Tyr LP/P rs1554263326 Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751] RAC1 P63000 VAR_080455 p.Asn39Ser LP/P rs1554263624 Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751] RAC1 P63000 VAR_080456 p.Val51Leu US rs1554263625 Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751] RAC1 P63000 VAR_080457 p.Val51Met LP/P rs1554263625 Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751] RAC1 P63000 VAR_080458 p.Tyr64Asp LP/P rs1554263626 Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751] RAC1 P63000 VAR_080459 p.Pro73Leu LP/P - Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751] RAC1 P63000 VAR_080460 p.Cys157Tyr LP/P rs1554264268 Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751] RAC2 P15153 VAR_017452 p.Asp57Asn LP/P rs74315507 Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) [MIM:608203] RAC2 P15153 VAR_036569 p.Pro29Leu US - A breast cancer sample RAC2 P15153 VAR_085472 p.Pro34His US rs1927393826 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia (IMD73B) [MIM:618986] RAC2 P15153 VAR_085474 p.Glu62Lys LP/P rs1555908409 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia (IMD73B) [MIM:618986] RAC2 P15153 VAR_085475 p.Asn92Thr US rs1927078072 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia (IMD73B) [MIM:618986] RAC3 P60763 VAR_083040 p.Pro29Leu LP/P rs1568018697 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577] RAC3 P60763 VAR_083041 p.Gln61Leu LP/P rs1568018920 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577] RAC3 P60763 VAR_083042 p.Glu62Lys LP/P rs1064797229 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577] RAC3 P60763 VAR_083245 p.Ala59Gly LP/P rs1379395211 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577] RACGAP1 Q9H0H5 VAR_087032 p.Leu396Gln LP/P - Anemia, congenital dyserythropoietic, 3B, autosomal recessive (CDAN3B) [MIM:619789] RACGAP1 Q9H0H5 VAR_087033 p.Pro432Ser LP/P - Anemia, congenital dyserythropoietic, 3B, autosomal recessive (CDAN3B) [MIM:619789] RAD1 O60671 VAR_051718 p.Ala33Gly LB/B rs2308951 - RAD1 O60671 VAR_051719 p.Thr104Ser LB/B rs1805328 - RAD1 O60671 VAR_051720 p.Gly114Asp LB/B rs2308957 - RAD1 O60671 VAR_051721 p.Glu281Gly LB/B rs1805327 - RAD1 O60671 VAR_055376 p.His39Gln LB/B rs41271673 - RAD17 O75943 VAR_021574 p.Val32Ile LB/B rs17229831 - RAD17 O75943 VAR_021575 p.Arg487Leu LB/B rs17236478 - RAD17 O75943 VAR_021576 p.Lys535Glu LB/B rs17236485 - RAD17 O75943 VAR_021577 p.Leu557Arg LB/B rs1045051 - RAD18 Q9NS91 VAR_023423 p.Glu6Ala LB/B rs45520133 - RAD18 Q9NS91 VAR_023424 p.Arg302Gln LB/B rs373572 - RAD18 Q9NS91 VAR_023425 p.Ile307Val LB/B rs45569933 - RAD21 O60216 VAR_014281 p.Gly481Arg LB/B rs755168088 - RAD21 O60216 VAR_068691 p.Pro376Arg LP/P rs387907212 Cornelia de Lange syndrome 4 with or without midline brain defects (CDLS4) [MIM:614701] RAD21 O60216 VAR_068692 p.Cys585Arg LP/P rs387907213 Cornelia de Lange syndrome 4 with or without midline brain defects (CDLS4) [MIM:614701] RAD21 O60216 VAR_081285 p.Ala622Thr LP/P rs775266057 Mungan syndrome (MGS) [MIM:611376] RAD21L1 Q9H4I0 VAR_064917 p.Cys90Arg LB/B rs450739 - RAD21L1 Q9H4I0 VAR_064918 p.Ile152Leu LB/B rs203534 - RAD21L1 Q9H4I0 VAR_064919 p.His423Pro LB/B rs17717241 - RAD23A P54725 VAR_016251 p.Thr131Ala LB/B rs11558955 - RAD23A P54725 VAR_016252 p.Thr200Met LB/B rs4987202 - RAD23A P54725 VAR_020377 p.Arg179Gln LB/B rs4987203 - RAD23B P54727 VAR_014350 p.Ala249Val LB/B rs1805329 - RAD50 Q92878 VAR_020958 p.Lys616Glu LB/B rs1047380 - RAD50 Q92878 VAR_020959 p.Val697Ala LB/B rs1047382 - RAD50 Q92878 VAR_020960 p.Tyr964His LB/B rs1047386 - RAD50 Q92878 VAR_020961 p.Lys973Met LB/B rs1129482 - RAD50 Q92878 VAR_020962 p.Arg1038Gly LB/B rs1047387 - RAD50 Q92878 VAR_022085 p.Thr191Ile LB/B rs2230017 - RAD50 Q92878 VAR_025526 p.Ile94Leu LB/B rs28903085 - RAD50 Q92878 VAR_025527 p.Arg224His LB/B rs28903088 - RAD50 Q92878 VAR_029168 p.Val127Ile LB/B rs28903086 - RAD50 Q92878 VAR_029169 p.Arg193Trp LB/B rs28903087 - RAD50 Q92878 VAR_029170 p.Val842Ala LB/B rs28903093 - RAD50 Q92878 VAR_034436 p.Val315Leu LB/B rs28903090 - RAD50 Q92878 VAR_061779 p.Gly469Ala LB/B rs55653181 - RAD51 Q06609 VAR_010899 p.Arg150Gln LP/P rs121917739 Breast cancer (BC) [MIM:114480] RAD51 Q06609 VAR_076593 p.Ala293Thr LP/P rs1057519413 Fanconi anemia, complementation group R (FANCR) [MIM:617244] RAD51 Q06609 VAR_076870 p.Thr131Pro LP/P - Fanconi anemia, complementation group R (FANCR) [MIM:617244] RAD51AP1 Q96B01 VAR_056976 p.Lys68Gln LB/B rs34810644 - RAD51AP2 Q09MP3 VAR_043478 p.Val876Leu LB/B rs17380212 - RAD51AP2 Q09MP3 VAR_043479 p.Arg976His LB/B rs17314548 - RAD51AP2 Q09MP3 VAR_043480 p.Gly1037Asp LB/B rs834514 - RAD51B O15315 VAR_025243 p.Val9Met LB/B rs34583846 - RAD51B O15315 VAR_025244 p.Phe82Cys LB/B rs35282642 - RAD51B O15315 VAR_025245 p.Leu172Trp LB/B rs34094401 - RAD51B O15315 VAR_025246 p.Tyr180Cys LB/B rs28910275 - RAD51B O15315 VAR_025247 p.Lys243Arg LB/B rs34594234 - RAD51B O15315 VAR_025248 p.Ser250Ala LB/B rs33929366 - RAD51B O15315 VAR_035437 p.Val207Leu LB/B rs28908168 - RAD51B O15315 VAR_051730 p.Pro365Arg LB/B rs28908468 - RAD51C O43502 VAR_020518 p.Ile144Thr LB/B rs28363307 - RAD51C O43502 VAR_020519 p.Arg249Cys LB/B rs28363311 - RAD51C O43502 VAR_020520 p.Thr287Ala LP/P rs28363317 Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399] RAD51C O43502 VAR_063837 p.Gly3Arg LB/B rs376403182 - RAD51C O43502 VAR_063838 p.Gly125Val LP/P rs267606998 Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399] RAD51C O43502 VAR_063839 p.Ala126Thr LB/B rs61758784 - RAD51C O43502 VAR_063840 p.Leu138Phe LP/P rs267606999 Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399] RAD51C O43502 VAR_063841 p.Asp159Asn US - - RAD51C O43502 VAR_063842 p.Val169Ala LB/B rs587780256 - RAD51C O43502 VAR_063843 p.Gly264Ser LB/B rs147241704 - RAD51C O43502 VAR_063844 p.Gly264Val LB/B rs1283065191 - RAD51C O43502 VAR_063845 p.Arg366Gln LB/B rs577852020 - RAD51C O43502 VAR_064032 p.Arg258His LP/P rs267606997 Fanconi anemia complementation group O (FANCO) [MIM:613390] RAD51C O43502 VAR_068014 p.Ile52Leu LB/B rs730881927 - RAD51C O43502 VAR_068016 p.Gly114Val LB/B rs1555593767 - RAD51C O43502 VAR_068017 p.Gly162Glu LP/P rs35151472 Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399] RAD51C O43502 VAR_068018 p.Ala175Thr LB/B rs587780838 - RAD51C O43502 VAR_068019 p.Gln178Pro LP/P - Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399] RAD51C O43502 VAR_068020 p.Leu262Val LB/B rs149331537 - RAD51D O75771 VAR_020560 p.Arg24Ser LB/B rs28363257 - RAD51D O75771 VAR_020561 p.Arg165Gln LB/B rs4796033 - RAD51D O75771 VAR_020562 p.Ala225Thr LB/B rs28363282 - RAD51D O75771 VAR_020563 p.Arg232Gln LB/B rs28363283 - RAD51D O75771 VAR_020564 p.Glu233Gly LB/B rs28363284 - RAD51D O75771 VAR_079271 p.Cys9Ser LB/B rs140825795 - RAD52 P43351 VAR_019218 p.Arg70Trp LB/B rs11571421 - RAD52 P43351 VAR_019219 p.Gln221Glu LB/B rs4987206 - RAD52 P43351 VAR_019220 p.Ser287Asn LB/B rs11571463 - RAD54B Q9Y620 VAR_019563 p.Asp418Tyr US rs119490107 A colon cancer sample RAD54B Q9Y620 VAR_019564 p.Asn593Ser US rs114216685 A non-Hodgkin lymphoma sample RAD54B Q9Y620 VAR_034430 p.Leu30Val LB/B rs28910279 - RAD54B Q9Y620 VAR_037885 p.Asp97His LB/B rs2919661 - RAD54B Q9Y620 VAR_075089 p.Gly833Glu LB/B rs752511501 - RAD54B Q9Y620 VAR_075090 p.Ile899Val LB/B rs150017319 - RAD54L Q92698 VAR_019559 p.Pro63His US rs121908688 A colon adenocarcinoma sample RAD54L Q92698 VAR_019560 p.Lys151Glu LB/B rs2295466 - RAD54L Q92698 VAR_019561 p.Gly325Arg US rs121908690 A breast cancer sample RAD54L Q92698 VAR_019562 p.Val444Glu US rs121908689 A non-Hodgkin lymphoma sample RAD54L Q92698 VAR_055363 p.Asp21Gly LB/B rs28363192 - RAD54L Q92698 VAR_055364 p.Ile74Met LB/B rs28363209 - RAD54L Q92698 VAR_055365 p.Arg202Cys LB/B rs28363218 - RAD54L Q92698 VAR_055366 p.Arg380Gln LB/B rs28363234 - RAD54L Q92698 VAR_055367 p.Arg534Cys LB/B rs28363240 - RAD54L Q92698 VAR_055368 p.Ile583Thr LB/B rs28363243 - RAD54L2 Q9Y4B4 VAR_038302 p.Phe1369Leu LB/B rs35712917 - RAD9A Q99638 VAR_025410 p.Cys3Phe LB/B rs11575913 - RAD9A Q99638 VAR_025411 p.Ser100Ala LB/B rs2066492 - RAD9A Q99638 VAR_025412 p.His239Arg LB/B rs17880039 - RAD9A Q99638 VAR_025413 p.Met307Thr LB/B rs17882466 - RAD9A Q99638 VAR_051724 p.Leu71Gln LB/B rs2422490 - RADIL Q96JH8 VAR_023769 p.Ser886Gly LB/B rs414035 - RADIL Q96JH8 VAR_046192 p.Asp239Asn LB/B rs3763384 - RADIL Q96JH8 VAR_046193 p.His412Asp LB/B rs2292498 - RADIL Q96JH8 VAR_060193 p.Leu938Pro LB/B rs6966329 - RADX Q6NSI4 VAR_028816 p.Ile593Met LB/B rs5962707 - RAET1E Q8TD07 VAR_020271 p.Tyr82Asn LB/B rs2151910 - RAET1E Q8TD07 VAR_024534 p.Arg12His LB/B rs9383583 - RAET1E Q8TD07 VAR_024535 p.Arg128His LB/B rs6925151 - RAET1E Q8TD07 VAR_024536 p.Val237Leu LB/B rs2342767 - RAET1E Q8TD07 VAR_050408 p.Ala141Thr LB/B rs9383921 - RAET1E Q8TD07 VAR_050409 p.Thr142Ile LB/B rs9371533 - RAET1E Q8TD07 VAR_061483 p.Arg194Gly LB/B rs57292884 - RAET1G Q6H3X3 VAR_033449 p.Thr70Arg LB/B rs9397449 - RAET1L Q5VY80 VAR_039183 p.Arg26Gly LB/B rs1543547 - RAET1L Q5VY80 VAR_039184 p.Met85Thr LB/B rs912565 - RAET1L Q5VY80 VAR_039185 p.Leu106Arg LB/B rs1555696 - RAET1L Q5VY80 VAR_079132 p.Thr147Ile LB/B rs61730071 - RAF1 P04049 VAR_018840 p.Pro308Leu LB/B rs5746220 - RAF1 P04049 VAR_037807 p.Arg256Ser LP/P rs397516826 Noonan syndrome 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037808 p.Ser257Leu LP/P rs80338796 LEOPARD syndrome 2 (LPRD2) [MIM:611554] RAF1 P04049 VAR_037808 p.Ser257Leu LP/P rs80338796 Noonan syndrome 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037809 p.Ser259Phe LP/P rs397516827 Noonan syndrome 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037810 p.Thr260Ile US rs869025501 - RAF1 P04049 VAR_037811 p.Thr260Arg LP/P - Noonan syndrome 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037812 p.Pro261Ala LP/P rs121434594 Noonan syndrome 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037813 p.Pro261Leu LP/P rs397516828 Noonan syndrome 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037814 p.Pro261Ser LP/P rs121434594 Noonan syndrome 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037815 p.Val263Ala LP/P rs397516830 Noonan syndrome 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037816 p.Asp486Gly LP/P rs397516815 Noonan syndrome 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037817 p.Asp486Asn LP/P rs80338798 Noonan syndrome 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037818 p.Thr491Ile LP/P rs80338799 Noonan syndrome 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037819 p.Thr491Arg LP/P rs80338799 Noonan syndrome 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037820 p.Ser612Thr LP/P rs1448392469 Noonan syndrome 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037821 p.Leu613Val LP/P rs80338797 LEOPARD syndrome 2 (LPRD2) [MIM:611554] RAF1 P04049 VAR_037821 p.Leu613Val LP/P rs80338797 Noonan syndrome 5 (NS5) [MIM:611553] RAF1 P04049 VAR_041037 p.Ser259Ala US rs3730271 An ovarian serous carcinoma sample RAF1 P04049 VAR_041038 p.Gln335His US - A lung adenocarcinoma sample RAF1 P04049 VAR_071844 p.Ala237Thr LP/P rs587777588 Cardiomyopathy, dilated, 1NN (CMD1NN) [MIM:615916] RAF1 P04049 VAR_071845 p.Thr310Ala LP/P rs778155315 Cardiomyopathy, dilated, 1NN (CMD1NN) [MIM:615916] RAF1 P04049 VAR_071846 p.Pro332Ala LP/P rs1057403865 Cardiomyopathy, dilated, 1NN (CMD1NN) [MIM:615916] RAF1 P04049 VAR_071847 p.Leu603Pro LP/P rs587777586 Cardiomyopathy, dilated, 1NN (CMD1NN) [MIM:615916] RAF1 P04049 VAR_071848 p.His626Arg LP/P rs1553609795 Cardiomyopathy, dilated, 1NN (CMD1NN) [MIM:615916] RAF1 P04049 VAR_071849 p.Thr641Met LP/P rs587777587 Cardiomyopathy, dilated, 1NN (CMD1NN) [MIM:615916] RAG1 P15918 VAR_007800 p.Ala156Val LB/B rs1801203 - RAG1 P15918 VAR_007801 p.Arg244Gly LB/B rs199474683 - RAG1 P15918 VAR_007802 p.His249Arg LB/B rs3740955 - RAG1 P15918 VAR_007803 p.Arg624His LP/P rs199474680 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] RAG1 P15918 VAR_007804 p.Glu722Lys LP/P rs28933392 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] RAG1 P15918 VAR_008886 p.Arg396Cys LP/P rs104894289 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_008887 p.Arg396His LP/P rs104894291 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_008888 p.Asp429Gly LP/P rs104894292 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_008889 p.Arg561His LP/P rs104894284 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_008890 p.Arg561Cys LP/P rs104894285 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_008891 p.Arg737His LP/P rs104894286 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_008892 p.Lys820Arg LB/B rs2227973 - RAG1 P15918 VAR_008893 p.Leu885Arg LP/P rs199474691 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_008894 p.Tyr912Cys LP/P rs104894290 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_020113 p.Asp302Glu LB/B rs4151030 - RAG1 P15918 VAR_020114 p.Glu880Lys LB/B rs4151033 - RAG1 P15918 VAR_025971 p.Cys328Tyr LP/P rs121918571 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025972 p.Arg396Leu LP/P rs104894291 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025973 p.Ser401Pro LP/P rs199474682 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025974 p.Arg410Gln LP/P rs199474684 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025975 p.Val433Met LP/P rs199474679 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025975 p.Val433Met LP/P rs199474679 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] RAG1 P15918 VAR_025976 p.Met435Val LP/P rs141524540 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025977 p.Ala444Val LP/P rs199474685 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025978 p.Arg474His LP/P rs199474686 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025979 p.Arg507Trp LP/P rs104894298 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025980 p.Trp522Cys LP/P rs193922461 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025981 p.Arg559Ser LP/P rs199474681 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025981 p.Arg559Ser LP/P rs199474681 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] RAG1 P15918 VAR_025982 p.Arg624Cys LP/P rs199474688 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025983 p.Glu669Gly LP/P rs199474689 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025984 p.His753Leu LP/P rs199474687 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025985 p.Arg841Trp LP/P rs104894287 Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity (T-CMVA) [MIM:609889] RAG1 P15918 VAR_025986 p.Asn855Ile LB/B rs199474690 - RAG1 P15918 VAR_025987 p.Arg975Gln LP/P rs150739647 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025988 p.Gln981Pro LP/P rs104894288 Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity (T-CMVA) [MIM:609889] RAG1 P15918 VAR_029260 p.Ser169Leu LB/B rs4151027 - RAG1 P15918 VAR_029261 p.Arg247His LB/B rs4151029 - RAG1 P15918 VAR_029262 p.Arg449Lys LB/B rs4151031 - RAG1 P15918 VAR_029263 p.Pro525Ser LB/B rs4151032 - RAG1 P15918 VAR_029264 p.Asp887Asn LB/B rs4151034 - RAG1 P15918 VAR_045957 p.Arg314Trp LP/P rs121918568 Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] RAG1 P15918 VAR_045958 p.Arg778Gln LP/P rs121918569 Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] RAG1 P15918 VAR_045959 p.Arg975Trp LP/P rs121918570 Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] RAG1 P15918 VAR_067274 p.Leu454Gln LP/P rs199474677 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_067275 p.Arg474Cys LB/B rs199474678 - RAG1 P15918 VAR_067276 p.Arg699Trp LP/P rs199474676 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_078305 p.Cys358Tyr US - - RAG1 P15918 VAR_078306 p.His375Asp US rs773272902 - RAG1 P15918 VAR_078307 p.His612Arg US rs1850821995 - RAG2 P55895 VAR_005570 p.Arg229Gln LP/P rs121917894 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] RAG2 P55895 VAR_005571 p.Cys478Tyr LP/P rs121918573 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] RAG2 P55895 VAR_008895 p.Cys41Trp LP/P rs121917895 Omenn syndrome (OS) [MIM:603554] RAG2 P55895 VAR_008896 p.Met285Arg LP/P rs121917896 Omenn syndrome (OS) [MIM:603554] RAG2 P55895 VAR_045960 p.Thr77Asn LP/P rs121918574 Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] RAG2 P55895 VAR_045961 p.Glu293Gly LB/B rs16929093 - RAG2 P55895 VAR_045962 p.Gly451Ala LP/P rs121918575 Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] RAI1 Q7Z5J4 VAR_024344 p.Pro165Thr LB/B rs11649804 - RAI1 Q7Z5J4 VAR_051300 p.Gly90Ala LB/B rs3803763 - RAI1 Q7Z5J4 VAR_051301 p.Gln939Pro LB/B rs1759075 - RAI14 Q9P0K7 VAR_026673 p.Ala44Thr LB/B rs17521570 - RAI14 Q9P0K7 VAR_055517 p.Ser45Asn LB/B rs35941954 - RAI14 Q9P0K7 VAR_055518 p.Val499Leu LB/B rs10472941 - RAI14 Q9P0K7 VAR_055519 p.Ala870Ser LB/B rs1048944 - RAI2 Q9Y5P3 VAR_046100 p.Met252Val LB/B rs6527818 - RAI2 Q9Y5P3 VAR_046101 p.Ala342Pro LB/B rs17855524 - RALA P11233 VAR_085759 p.Val25Leu LP/P - Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) [MIM:619311] RALA P11233 VAR_085760 p.Val25Met LP/P rs1554297905 Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) [MIM:619311] RALA P11233 VAR_085761 p.Lys128Arg LP/P - Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) [MIM:619311] RALA P11233 VAR_085762 p.Asp130Gly LP/P - Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) [MIM:619311] RALA P11233 VAR_085763 p.Ser157Ala LP/P - Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) [MIM:619311] RALBP1 Q15311 VAR_049147 p.Ala617Val LB/B rs35867116 - RALGAPA1 Q6GYQ0 VAR_019804 p.Thr931Ala LB/B rs2274068 - RALGAPA1 Q6GYQ0 VAR_083730 p.Asn1076Ser LP/P rs1595085511 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (NEDHRIT) [MIM:618797] RALGAPA2 Q2PPJ7 VAR_049157 p.Ser492Asn LB/B rs6137081 - RALGDS Q12967 VAR_035822 p.Arg496Leu US - A colorectal cancer sample RALGPS1 Q5JS13 VAR_061785 p.Ser290Asn LB/B rs55918931 - RALGPS2 Q86X27 VAR_039468 p.Asn225Ser LB/B rs35161510 - RALY Q9UKM9 VAR_015223 p.Gln215Arg LB/B rs3180568 - RALY Q9UKM9 VAR_015224 p.Gly251Ser LB/B rs2281209 - RALY Q9UKM9 VAR_052215 p.Val139Met LB/B rs35191085 - RAMP3 O60896 VAR_024602 p.Trp56Arg LB/B rs2074654 - RAMP3 O60896 VAR_034437 p.Gly26Asp LB/B rs10272187 - RAMP3 O60896 VAR_053628 p.Met33Leu LB/B rs11550711 - RANBP1 P43487 VAR_036567 p.Glu16Asp US - A breast cancer sample RANBP1 P43487 VAR_053629 p.Ala145Val LB/B rs5746863 - RANBP2 P49792 VAR_014886 p.Pro1892Ala LB/B rs12770 - RANBP2 P49792 VAR_023939 p.Arg784Lys LB/B rs2912838 - RANBP2 P49792 VAR_029765 p.Val548Leu LB/B rs1057954 - RANBP2 P49792 VAR_029766 p.Glu580Lys LB/B rs1057956 - RANBP2 P49792 VAR_029767 p.Cys581Tyr LB/B rs1057957 - RANBP2 P49792 VAR_029768 p.Pro1870Leu LB/B rs2889846 - RANBP2 P49792 VAR_050575 p.Ser725Gly LB/B rs17414315 - RANBP2 P49792 VAR_050576 p.Pro1892Arg LB/B rs12770 - RANBP2 P49792 VAR_054997 p.Thr585Met LP/P rs121434502 Encephalopathy, acute, infection-induced, 3 (IIAE3) [MIM:608033] RANBP2 P49792 VAR_054998 p.Thr653Ile LP/P rs121434503 Encephalopathy, acute, infection-induced, 3 (IIAE3) [MIM:608033] RANBP2 P49792 VAR_054999 p.Ile656Val LP/P rs121434504 Encephalopathy, acute, infection-induced, 3 (IIAE3) [MIM:608033] RANBP3 Q9H6Z4 VAR_051303 p.Ala314Val LB/B rs10417885 - RANBP3L Q86VV4 VAR_037557 p.Thr70Arg LB/B rs1035480 - RANBP3L Q86VV4 VAR_037558 p.Ala111Asp LB/B rs35433829 - RANBP3L Q86VV4 VAR_037559 p.Ala271Val LB/B rs16902872 - RANGAP1 P46060 VAR_029240 p.Glu133Gln LB/B rs2229752 - RANGRF Q9HD47 VAR_080080 p.Glu83Asp US rs751751942 - RAP1GAP P47736 VAR_035547 p.Cys257Arg US - A breast cancer sample RAP1GAP P47736 VAR_035548 p.Tyr609Cys US rs147394161 A breast cancer sample RAP1GAP P47736 VAR_047792 p.Ala107Thr LB/B rs2275363 - RAP1GAP2 Q684P5 VAR_037553 p.Leu202Met LB/B rs17762452 - RAP1GDS1 P52306 VAR_049158 p.Lys314Glu LB/B rs34392334 - RAP1GDS1 P52306 VAR_069149 p.Ser56Thr LB/B rs17849535 - RAPGEF1 Q13905 VAR_069375 p.Arg1012Gln US - - RAPGEF3 O95398 VAR_047924 p.Ala16Pro LB/B rs11168230 - RAPGEF3 O95398 VAR_047925 p.Arg193Gly LB/B rs2016123 - RAPGEF3 O95398 VAR_047926 p.Gly374Ser LB/B rs12422983 - RAPGEF3 O95398 VAR_061784 p.Cys517Tyr LB/B rs61709815 - RAPGEF6 Q8TEU7 VAR_057168 p.Ser570Ala LB/B rs3756293 - RAPGEF6 Q8TEU7 VAR_057169 p.Ala594Pro LB/B rs34112735 - RAPGEF6 Q8TEU7 VAR_057170 p.Ile1353Val LB/B rs7717835 - RAPGEF6 Q8TEU7 VAR_057171 p.Val1559Glu LB/B rs1064539 - RAPGEF6 Q8TEU7 VAR_059793 p.Gln1452Arg LB/B rs1291602 - RAPH1 Q70E73 VAR_036009 p.Ala891Ser US - A breast cancer sample RAPH1 Q70E73 VAR_036010 p.Thr1228Ala US rs774304253 A breast cancer sample RAPSN Q13702 VAR_021216 p.Leu14Pro LP/P rs104894300 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11) [MIM:616326] RAPSN Q13702 VAR_021217 p.Asn88Lys LP/P rs104894299 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11) [MIM:616326] RAPSN Q13702 VAR_043897 p.Gln8Lys LB/B rs11556408 - RAPSN Q13702 VAR_043898 p.Val45Met LP/P rs121909254 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11) [MIM:616326] RAPSN Q13702 VAR_043899 p.Phe139Ser LP/P rs121909256 Fetal akinesia deformation sequence 2 (FADS2) [MIM:618388] RAPSN Q13702 VAR_043900 p.Glu162Lys LP/P rs121909255 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11) [MIM:616326] RAPSN Q13702 VAR_043901 p.Arg164Cys LP/P rs104894294 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11) [MIM:616326] RAPSN Q13702 VAR_043902 p.Ala189Val LP/P rs121909257 Fetal akinesia deformation sequence 2 (FADS2) [MIM:618388] RAPSN Q13702 VAR_043903 p.Leu283Pro LP/P rs104894293 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11) [MIM:616326] RAPSN Q13702 VAR_062142 p.Phe81Leu LB/B rs57878668 - RARB P10826 VAR_036060 p.Val90Ile US - A colorectal cancer sample RARB P10826 VAR_070780 p.Arg394Cys LP/P - Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524] RARB P10826 VAR_070781 p.Arg394Ser LP/P - Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524] RARB P10826 VAR_077141 p.Leu220Pro LP/P - Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524] RARB P10826 VAR_077142 p.Gly303Ala LP/P - Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524] RARG P13631 VAR_036061 p.Gly430Ser US - A breast cancer sample RARG P13631 VAR_038554 p.Ser427Leu LB/B rs2229774 - RARRES1 P49788 VAR_053612 p.Asp158Val LB/B rs11919919 - RARRES1 P49788 VAR_060094 p.Asp42Gly LB/B rs7621322 - RARS1 P54136 VAR_020106 p.Val3Ile LB/B rs244903 - RARS1 P54136 VAR_020107 p.Phe397Tyr LB/B rs2305734 - RARS1 P54136 VAR_052635 p.Arg135Gly LB/B rs1059443 - RARS1 P54136 VAR_072666 p.Asp2Gly LP/P rs672601372 Leukodystrophy, hypomyelinating, 9 (HLD9) [MIM:616140] RARS1 P54136 VAR_072667 p.Arg512Gln LP/P rs369398935 Leukodystrophy, hypomyelinating, 9 (HLD9) [MIM:616140] RARS2 Q5T160 VAR_037800 p.Lys291Arg LB/B rs17850652 - RARS2 Q5T160 VAR_037801 p.Ile331Val LB/B rs3757370 - RARS2 Q5T160 VAR_037802 p.Asp367Gly LB/B rs1108758 - RARS2 Q5T160 VAR_076278 p.Asp436Tyr US - - RARS2 Q5T160 VAR_076279 p.Leu441Phe US - - RARS2 Q5T160 VAR_085046 p.Val142Ala US rs761568260 - RARS2 Q5T160 VAR_085048 p.Met342Ile US rs34647222 - RARS2 Q5T160 VAR_088506 p.Ala10Val US - Pontocerebellar hypoplasia 6 (PCH6) [MIM:611523] RASA1 P20936 VAR_002650 p.Arg398Leu US rs137853214 Basal cell carcinomas RASA1 P20936 VAR_002651 p.Lys400Glu US rs137853215 Basal cell carcinomas RASA1 P20936 VAR_002652 p.Ile401Val US rs137853216 Basal cell carcinomas RASA1 P20936 VAR_017744 p.Cys540Tyr LP/P rs137853217 Capillary malformation-arteriovenous malformation 1 (CMAVM1) [MIM:608354] RASA1 P20936 VAR_072088 p.Tyr528Cys US rs145752649 Capillary malformation-arteriovenous malformation 1 (CMAVM1) [MIM:608354] RASA1 P20936 VAR_072089 p.Val530Asp LP/P - Capillary malformation-arteriovenous malformation 1 (CMAVM1) [MIM:608354] RASA1 P20936 VAR_072090 p.Ala626Glu LP/P rs745690594 Capillary malformation-arteriovenous malformation 1 (CMAVM1) [MIM:608354] RASA1 P20936 VAR_072091 p.Glu763Val US rs373098580 Capillary malformation-arteriovenous malformation 1 (CMAVM1) [MIM:608354] RASA4 O43374 VAR_027680 p.Met352Val LB/B rs144395384 - RASA4 O43374 VAR_027681 p.Arg432Pro LB/B rs886346 - RASAL1 O95294 VAR_031665 p.Val11Leu LB/B rs7960087 - RASAL1 O95294 VAR_031666 p.Thr58Met LB/B rs34598602 - RASAL1 O95294 VAR_031667 p.Arg321His LB/B rs1284879 - RASAL2 Q9UJF2 VAR_035541 p.Arg165Trp US rs765646105 A colorectal cancer sample RASAL2 Q9UJF2 VAR_035542 p.Glu379Asp US - A breast cancer sample RASAL3 Q86YV0 VAR_061179 p.Leu251Val LB/B rs58123634 - RASAL3 Q86YV0 VAR_061180 p.Arg594Cys LB/B rs56209154 - RASAL3 Q86YV0 VAR_061181 p.Pro825Thr LB/B rs57208996 - RASEF Q8IZ41 VAR_034858 p.Arg262Cys LB/B rs4146960 - RASGRF2 O14827 VAR_037595 p.Arg114His US rs779986744 A colorectal cancer sample RASGRF2 O14827 VAR_037596 p.Asp538Asn US rs1466151520 A breast cancer sample RASGRF2 O14827 VAR_037597 p.Leu713Trp LB/B rs16878472 - RASGRF2 O14827 VAR_037598 p.Asp1216Glu US - A breast cancer sample RASGRP1 O95267 VAR_083338 p.Thr214Ile LP/P rs1595848141 Immunodeficiency 64 with lymphoproliferation (IMD64) [MIM:618534] RASGRP2 Q7LDG7 VAR_038257 p.Gly493Ala LB/B rs2301562 - RASGRP2 Q7LDG7 VAR_071474 p.Gly248Trp LP/P rs587777529 Bleeding disorder, platelet-type, 18 (BDPLT18) [MIM:615888] RASGRP2 Q7LDG7 VAR_079616 p.Cys296Tyr LP/P - Bleeding disorder, platelet-type, 18 (BDPLT18) [MIM:615888] RASGRP2 Q7LDG7 VAR_079617 p.Gly305Asp LP/P - Bleeding disorder, platelet-type, 18 (BDPLT18) [MIM:615888] RASGRP2 Q7LDG7 VAR_079618 p.Ser381Phe LP/P rs767965347 Bleeding disorder, platelet-type, 18 (BDPLT18) [MIM:615888] RASGRP3 Q8IV61 VAR_051901 p.Thr393Ala LB/B rs13388394 - RASGRP4 Q8TDF6 VAR_038144 p.Ile18Thr LB/B rs892055 - RASGRP4 Q8TDF6 VAR_038145 p.Gln120Leu LB/B - - RASGRP4 Q8TDF6 VAR_038146 p.Val145Ala LB/B - - RASGRP4 Q8TDF6 VAR_038147 p.Arg261Cys LB/B - - RASGRP4 Q8TDF6 VAR_038148 p.Arg335Gly LB/B rs202008979 - RASGRP4 Q8TDF6 VAR_057172 p.Glu620Lys LB/B rs34377632 - RASIP1 Q5U651 VAR_051302 p.Arg601Cys LB/B rs2287922 - RASL10B Q96S79 VAR_036309 p.Val52Met US rs781851443 A breast cancer sample RASSF1 Q9NS23 VAR_019542 p.Lys21Gln LB/B rs4688725 - RASSF1 Q9NS23 VAR_019543 p.Arg53Cys LB/B rs201618726 - RASSF1 Q9NS23 VAR_019544 p.Asp133Glu LB/B rs76335415 - RASSF1 Q9NS23 VAR_019545 p.Ser135Phe LB/B rs934370004 - RASSF1 Q9NS23 VAR_019546 p.Ala137Ser LB/B rs2073498 - RASSF1 Q9NS23 VAR_019547 p.Tyr329Cys LB/B rs782655006 - RASSF1 Q9NS23 VAR_059794 p.His319Arg LB/B rs12488879 - RASSF10 A6NK89 VAR_042999 p.Gln194His LB/B rs4323847 - RASSF2 P50749 VAR_035825 p.Arg144His US rs758816530 A colorectal cancer sample RASSF3 Q86WH2 VAR_026724 p.Arg232His LB/B rs74098110 - RASSF4 Q9H2L5 VAR_034438 p.His10Tyr LB/B rs34692238 - RASSF4 Q9H2L5 VAR_034439 p.Arg88Gly LB/B rs870957 - RASSF6 Q6ZTQ3 VAR_026725 p.Ser163Pro LB/B rs12507775 - RASSF6 Q6ZTQ3 VAR_034440 p.Ala306Gly LB/B rs17804499 - RASSF7 Q02833 VAR_021859 p.Pro89Ala LB/B rs2242183 - RASSF7 Q02833 VAR_021860 p.Arg156Gln LB/B rs2242182 - RASSF9 O75901 VAR_034820 p.Ala285Thr LB/B rs7397266 - RAX Q9Y2V3 VAR_020150 p.Asp44Glu LB/B rs2271733 - RAX Q9Y2V3 VAR_034905 p.Arg192Gln LP/P rs121909127 Microphthalmia, syndromic 16 (MCOPS16) [MIM:611038] RAX Q9Y2V3 VAR_075630 p.Tyr160His US - Microphthalmia, syndromic 16 (MCOPS16) [MIM:611038] RAX Q9Y2V3 VAR_075631 p.Arg187Gln US - Microphthalmia, syndromic 16 (MCOPS16) [MIM:611038] RAX Q9Y2V3 VAR_075632 p.Arg188Gln US - Microphthalmia, syndromic 16 (MCOPS16) [MIM:611038] RAX2 Q96IS3 VAR_031907 p.Arg87Gln US rs121908280 Macular degeneration, age-related, 6 (ARMD6) [MIM:613757] RAX2 Q96IS3 VAR_031908 p.Gly137Arg US rs121908281 Cone-rod dystrophy 11 (CORD11) [MIM:610381] RAX2 Q96IS3 VAR_087740 p.Ser49Pro US - Retinitis pigmentosa 95 (RP95) [MIM:620102] RAX2 Q96IS3 VAR_087741 p.Pro52Arg LP/P - Retinitis pigmentosa 95 (RP95) [MIM:620102] RB1 P06400 VAR_005572 p.Glu72Gln LP/P - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005573 p.Glu137Asp LP/P rs3092902 Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005574 p.Ile185Thr LP/P - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005575 p.Arg358Gln LP/P rs767011440 Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005576 p.Met457Arg LP/P - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005578 p.His549Tyr LP/P rs1050717570 Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005579 p.Ser567Leu LP/P rs137853292 Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005580 p.Ala635Pro LP/P - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005581 p.Val654Glu LP/P - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005582 p.Arg661Trp LP/P rs137853294 Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005583 p.Leu662Pro LP/P - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005584 p.His673Pro LP/P - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005585 p.Gln685Pro LP/P - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005586 p.Cys706Tyr LP/P - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005587 p.Cys712Arg LP/P rs137853296 Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005588 p.Asn803Lys LP/P - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_010045 p.Gly310Glu US rs200844292 Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_010046 p.Arg358Gly LP/P - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_010048 p.Lys447Gln LP/P - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_010049 p.Lys530Arg LP/P rs1948534047 Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_010050 p.Leu657Pro LP/P - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_011580 p.Arg500Gly LP/P - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_011581 p.Lys616Glu LP/P - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_019379 p.Gln436Lys LB/B rs4151534 - RB1 P06400 VAR_019380 p.Ala525Gly LB/B rs4151539 - RB1 P06400 VAR_034442 p.Glu746Gly LB/B rs3092905 - RB1 P06400 VAR_051909 p.Asn133His LB/B rs3092900 - RB1 P06400 VAR_051910 p.Leu569Phe LB/B rs3092895 - RB1 P06400 VAR_051911 p.Asp697Glu LB/B rs3092903 - RB1 P06400 VAR_069376 p.Tyr173His LB/B - - RB1CC1 Q8TDY2 VAR_023776 p.Met234Thr LB/B rs17337252 - RB1CC1 Q8TDY2 VAR_033031 p.Arg1514Cys US rs113117391 A breast cancer sample RB1CC1 Q8TDY2 VAR_051309 p.Pro708Leu LB/B rs34016926 - RB1CC1 Q8TDY2 VAR_051310 p.Arg1216Lys LB/B rs35534432 - RB1CC1 Q8TDY2 VAR_051311 p.Asn1314Lys LB/B rs34701924 - RB1CC1 Q8TDY2 VAR_051312 p.Ser1424Phe LB/B rs35342973 - RBAK Q9NYW8 VAR_038438 p.Gly229Glu LB/B rs35352738 - RBBP6 Q7Z6E9 VAR_026216 p.Val555Ala LB/B rs16973840 - RBBP6 Q7Z6E9 VAR_051306 p.Asp43His LB/B rs16973796 - RBBP6 Q7Z6E9 VAR_051307 p.Lys1208Ile LB/B rs3743968 - RBBP8 Q99708 VAR_028308 p.His387Tyr LB/B rs1804732 - RBBP8 Q99708 VAR_051308 p.Lys357Asn LB/B rs34678569 - RBBP8 Q99708 VAR_075824 p.Arg100Trp LP/P rs373804633 Seckel syndrome 2 (SCKL2) [MIM:606744] RBBP8NL Q8NC74 VAR_056849 p.Asp348Asn LB/B rs3810553 - RBBP8NL Q8NC74 VAR_056850 p.Ala408Thr LB/B rs10888228 - RBBP8NL Q8NC74 VAR_056851 p.Glu607Lys LB/B rs6089366 - RBBP8NL Q8NC74 VAR_056852 p.Leu637Arg LB/B rs2236200 - RBCK1 Q9BYM8 VAR_071385 p.Ala18Pro LP/P - Polyglucosan body myopathy 1 with or without immunodeficiency (PGBM1) [MIM:615895] RBCK1 Q9BYM8 VAR_071386 p.Asn387Ser LP/P rs566912235 Polyglucosan body myopathy 1 with or without immunodeficiency (PGBM1) [MIM:615895] RBFA Q8N0V3 VAR_023233 p.Val122Met LB/B rs748338 - RBFA Q8N0V3 VAR_023234 p.Asn245His LB/B rs3744872 - RBFA Q8N0V3 VAR_023235 p.Lys276Gln LB/B rs3744873 - RBL1 P28749 VAR_034443 p.Ile1035Met LB/B rs8114297 - RBL2 Q08999 VAR_028437 p.Tyr210Cys LB/B rs17800727 - RBL2 Q08999 VAR_069377 p.Val99Phe LB/B - - RBM10 P98175 VAR_035486 p.Arg396His US - A colorectal cancer sample RBM11 P57052 VAR_024621 p.Leu116Val LB/B rs409782 - RBM12 Q9NTZ6 VAR_052217 p.Asn572Ser LB/B rs17092928 - RBM12 Q9NTZ6 VAR_052218 p.Pro921Leu LB/B rs6121012 - RBM12B Q8IXT5 VAR_047291 p.Ser250Phe LB/B rs17853906 - RBM12B Q8IXT5 VAR_047292 p.Arg605Cys LB/B rs17857188 - RBM12B Q8IXT5 VAR_052219 p.Asn864His LB/B rs16916188 - RBM19 Q9Y4C8 VAR_023114 p.His609Arg LB/B rs2290789 - RBM19 Q9Y4C8 VAR_023115 p.Ile623Thr LB/B rs2290788 - RBM19 Q9Y4C8 VAR_023116 p.Thr665Ala LB/B rs2290787 - RBM19 Q9Y4C8 VAR_023117 p.Arg921Gln LB/B rs2075387 - RBM19 Q9Y4C8 VAR_057246 p.Arg821Gly LB/B rs16943379 - RBM19 Q9Y4C8 VAR_059822 p.Gln602Glu LB/B rs7299217 - RBM20 Q5T481 VAR_042532 p.Pro173Thr LB/B rs7908490 - RBM20 Q5T481 VAR_042533 p.Ser768Trp LB/B rs1417635 - RBM20 Q5T481 VAR_063092 p.Arg634Gln LP/P rs267607001 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_063093 p.Arg636His LP/P rs267607004 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_063094 p.Arg636Ser LP/P rs267607002 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_063095 p.Ser637Gly LP/P rs267607005 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_063096 p.Pro638Leu LP/P rs267607003 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_068802 p.Val535Ile LP/P rs183007628 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_068803 p.Arg634Trp LP/P rs796734066 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_068804 p.Ser635Ala LP/P - Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_068805 p.Arg636Cys LP/P rs267607002 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_068806 p.Arg716Gln LP/P rs375798246 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086515 p.Pro52Thr US - Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086516 p.Leu83Ile US rs536357058 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086517 p.Thr177Ser US rs397516621 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086518 p.Met194Leu US - Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086519 p.Met196Val US - Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086520 p.Gly259Val US rs940901720 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086521 p.Arg392Trp US rs771764951 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086522 p.Ser455Leu US rs189569984 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086523 p.Gln598Pro LP/P - Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086524 p.Asp674Gly US rs1475557145 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086525 p.Asp888Asn US rs201370621 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086526 p.Met905Lys US rs1564664312 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086527 p.Glu913Lys LP/P rs397516607 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086528 p.Val914Ala LP/P rs794729154 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086530 p.Pro1039Ser US rs727503392 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086531 p.Arg1057Trp US rs199830512 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086532 p.Pro1081Arg US rs1268330519 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_086533 p.Glu1206Lys US rs757389650 Cardiomyopathy, dilated, 1DD (CMD1DD) [MIM:613172] RBM23 Q86U06 VAR_052221 p.Asp184Asn LB/B rs34246954 - RBM23 Q86U06 VAR_052222 p.Phe428Leu LB/B rs1127066 - RBM26 Q5T8P6 VAR_030137 p.Val718Asp LB/B rs10767 - RBM28 Q9NW13 VAR_045654 p.Glu253Gln LB/B rs11554671 - RBM28 Q9NW13 VAR_045655 p.Leu351Pro LP/P rs118204055 Alopecia, neurologic defects, and endocrinopathy syndrome (ANES) [MIM:612079] RBM33 Q96EV2 VAR_052223 p.Thr574Ala LB/B rs3735576 - RBM38 Q9H0Z9 VAR_015225 p.Ala178Val LB/B rs1065288 - RBM38 Q9H0Z9 VAR_015226 p.Ala200Asp LB/B rs1065289 - RBM38 Q9H0Z9 VAR_015227 p.Pro212His LB/B rs1065290 - RBM38 Q9H0Z9 VAR_059823 p.Val226Leu LB/B rs16980970 - RBM39 Q14498 VAR_015228 p.Ala2Val LB/B rs1803701 - RBM39 Q14498 VAR_083212 p.Met265Leu US - - RBM39 Q14498 VAR_083213 p.Gly268Glu US - - RBM39 Q14498 VAR_083214 p.Gly268Arg US - - RBM39 Q14498 VAR_083215 p.Gly268Val US - - RBM39 Q14498 VAR_083216 p.Gly268Trp US - - RBM39 Q14498 VAR_083217 p.Glu271Gly US - - RBM39 Q14498 VAR_083218 p.Glu271Gln US - - RBM39 Q14498 VAR_083219 p.Pro272Ser US - - RBM41 Q96IZ5 VAR_028897 p.His376Tyr LB/B rs17850127 - RBM43 Q6ZSC3 VAR_033722 p.Ile259Val LB/B rs35749426 - RBM44 Q6ZP01 VAR_033147 p.Asp52His LB/B rs13393001 - RBM44 Q6ZP01 VAR_033148 p.Asn892His LB/B rs10186505 - RBM44 Q6ZP01 VAR_057247 p.Asp51His LB/B rs13393001 - RBM47 A0AV96 VAR_054770 p.Met565Val LB/B rs278981 - RBM47 A0AV96 VAR_061832 p.Gly538Arg LB/B rs35529250 - RBM4B Q9BQ04 VAR_064766 p.Glu93Val LB/B - - RBM5 P52756 VAR_061831 p.Lys163Asn LB/B rs56783610 - RBM6 P78332 VAR_014226 p.Ser353Phe US rs61731329 A non-small cell lung cancer cell line RBM6 P78332 VAR_052216 p.Asn721Thr LB/B rs34707170 - RBM7 Q9Y580 VAR_082580 p.Pro79Arg US - - RBMX2 Q9Y388 VAR_033724 p.Arg287His LB/B rs5977266 - RBMXL2 O75526 VAR_055334 p.Leu15Phe LB/B rs17857474 - RBMXL2 O75526 VAR_055335 p.Thr134Ala LB/B rs11041171 - RBMXL2 O75526 VAR_055336 p.Tyr308Cys LB/B rs17854944 - RBMXL2 O75526 VAR_061833 p.Ala66Val LB/B rs11041170 - RBP3 P10745 VAR_035929 p.Arg530His US rs1354470616 A colorectal cancer sample RBP3 P10745 VAR_051315 p.Val884Met LB/B rs11204213 - RBP3 P10745 VAR_069669 p.Gly18Val LB/B rs864621997 - RBP3 P10745 VAR_069670 p.Arg122His LB/B rs41302693 - RBP3 P10745 VAR_069671 p.Val155Met LB/B rs782157576 - RBP3 P10745 VAR_069672 p.Ser163Pro LB/B rs35686775 - RBP3 P10745 VAR_069673 p.Val196Met LB/B rs782398712 - RBP3 P10745 VAR_069674 p.Arg267Gln LB/B rs200239015 - RBP3 P10745 VAR_069675 p.Val282Met LB/B rs782095820 - RBP3 P10745 VAR_069676 p.Thr321Ile LB/B rs376854254 - RBP3 P10745 VAR_069677 p.Ala325Thr LB/B rs368898051 - RBP3 P10745 VAR_069678 p.Arg346His LB/B rs111245635 - RBP3 P10745 VAR_069679 p.Ala379Thr LB/B rs781840247 - RBP3 P10745 VAR_069680 p.Ser433Leu LB/B rs375761633 - RBP3 P10745 VAR_069681 p.Arg443Ser LB/B rs864621999 - RBP3 P10745 VAR_069682 p.His505Leu LB/B rs201808774 - RBP3 P10745 VAR_069683 p.Gln518Arg LB/B rs563600593 - RBP3 P10745 VAR_069684 p.His523Gln LB/B rs148093336 - RBP3 P10745 VAR_069685 p.Arg535Cys LB/B rs143632019 - RBP3 P10745 VAR_069686 p.Arg544His LB/B rs41284962 - RBP3 P10745 VAR_069687 p.Val593Ala LB/B rs782233167 - RBP3 P10745 VAR_069688 p.Ile599Val LB/B rs144289912 - RBP3 P10745 VAR_069689 p.Asp614Asn LB/B rs149642039 - RBP3 P10745 VAR_069690 p.Ala615Val LB/B rs368920246 - RBP3 P10745 VAR_069691 p.Thr675Ile LB/B rs864622000 - RBP3 P10745 VAR_069692 p.Ala688Val LB/B rs200168559 - RBP3 P10745 VAR_069693 p.Val693Met LB/B rs112888313 - RBP3 P10745 VAR_069694 p.Pro723Leu LB/B rs148247227 - RBP3 P10745 VAR_069695 p.Gly741Ser LB/B rs143110000 - RBP3 P10745 VAR_069696 p.Arg747Cys LB/B rs782664364 - RBP3 P10745 VAR_069697 p.Asn785Lys LB/B rs864622001 - RBP3 P10745 VAR_069698 p.Arg833Cys LB/B rs142945423 - RBP3 P10745 VAR_069699 p.Gly835Ser LB/B rs782480179 - RBP3 P10745 VAR_069700 p.Thr903Arg LB/B rs373766942 - RBP3 P10745 VAR_069701 p.Ser921Arg LB/B rs548622709 - RBP3 P10745 VAR_069702 p.Glu956Lys LB/B rs781847641 - RBP3 P10745 VAR_069703 p.Thr963Ile LB/B rs200706310 - RBP3 P10745 VAR_069704 p.Ser1021Tyr LB/B rs148591757 - RBP3 P10745 VAR_069705 p.Val1059Ile LB/B rs864622002 - RBP3 P10745 VAR_069706 p.Asp1080Asn LP/P rs146150511 Retinitis pigmentosa 66 (RP66) [MIM:615233] RBP3 P10745 VAR_069707 p.Thr1194Met LB/B rs782099994 - RBP4 P02753 VAR_009276 p.Ile59Asn LP/P rs121918584 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) [MIM:615147] RBP4 P02753 VAR_009277 p.Gly93Asp LP/P rs121918585 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) [MIM:615147] RBP4 P02753 VAR_073856 p.Ala73Thr LP/P rs794726862 Microphthalmia, isolated, with coloboma, 10 (MCOPCB10) [MIM:616428] RBP4 P02753 VAR_073857 p.Ala75Thr LP/P rs794726861 Microphthalmia, isolated, with coloboma, 10 (MCOPCB10) [MIM:616428] RBP5 P82980 VAR_034445 p.Glu70Gln LB/B rs7969705 - RBP5 P82980 VAR_034446 p.Met115Leu LB/B rs2290237 - RBP5 P82980 VAR_049013 p.Asp19Asn LB/B rs10963 - RBPJ Q06330 VAR_028994 p.Lys291Glu LB/B rs1064372 - RBPJ Q06330 VAR_028995 p.Asp334His LB/B rs1064376 - RBPJ Q06330 VAR_028996 p.Arg419Gln LB/B rs1064384 - RBPJ Q06330 VAR_028997 p.Pro425Ser LB/B rs1064387 - RBPJ Q06330 VAR_028998 p.Ala456Val LB/B rs1064402 - RBPJ Q06330 VAR_057244 p.Ile408Val LB/B rs1064381 - RBPJ Q06330 VAR_068929 p.Glu63Gly LP/P rs387907270 Adams-Oliver syndrome 3 (AOS3) [MIM:614814] RBPJ Q06330 VAR_068930 p.Lys169Glu LP/P rs387907271 Adams-Oliver syndrome 3 (AOS3) [MIM:614814] RBSN Q9H1K0 VAR_052982 p.Leu591Pro LB/B rs9868848 - RBSN Q9H1K0 VAR_052983 p.Thr641Ala LB/B rs9851219 - RBSN Q9H1K0 VAR_052984 p.Met722Ile LB/B rs9830744 - RBSN Q9H1K0 VAR_072416 p.Gly425Arg US rs144008665 - RCAN3 Q9UKA8 VAR_033727 p.Thr236Asn LB/B rs16829813 - RCBTB1 Q8NDN9 VAR_024757 p.Ala24Val LB/B rs4942848 - RCBTB1 Q8NDN9 VAR_024830 p.Thr500Ile LB/B - - RCBTB1 Q8NDN9 VAR_077962 p.Val307Met LP/P rs368217569 Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175] RCBTB1 Q8NDN9 VAR_077963 p.Trp310Cys LP/P rs772592456 Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175] RCBTB1 Q8NDN9 VAR_077964 p.His325Tyr LP/P rs200826424 Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175] RCBTB1 Q8NDN9 VAR_077965 p.His384Arg US rs143970072 Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175] RCBTB1 Q8NDN9 VAR_077966 p.Leu388Phe LP/P rs879255547 Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175] RCBTB1 Q8NDN9 VAR_077967 p.Ser401Leu US rs556664001 Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175] RCBTB2 O95199 VAR_024758 p.Ala263Thr LB/B rs9332000 - RCBTB2 O95199 VAR_024759 p.Cys515Ser LB/B rs9332075 - RCC1L Q96I51 VAR_027972 p.Gly30Arg LB/B rs6955671 - RCCD1 A6NED2 VAR_043727 p.Ala8Ser LB/B rs4932380 - RCE1 Q9Y256 VAR_036407 p.Pro326Ala US - A breast cancer sample RCN1 Q15293 VAR_011965 p.Asp73Tyr LB/B rs1804281 - RCN1 Q15293 VAR_035460 p.Phe117Leu US - A colorectal cancer sample RCN3 Q96D15 VAR_033696 p.Arg250Trp LB/B rs34654230 - RCOR2 Q8IZ40 VAR_025516 p.Thr514Ala LB/B rs320108 - RCOR3 Q9P2K3 VAR_025517 p.Lys42Arg LB/B rs17856928 - RCSD1 Q6JBY9 VAR_039181 p.Gln384Arg LB/B rs34699420 - RD3 Q7Z3Z2 VAR_023050 p.Arg47Cys LB/B rs34049451 - RD3 Q7Z3Z2 VAR_031510 p.Trp6Arg LB/B rs35649846 - RD3 Q7Z3Z2 VAR_031511 p.Glu23Asp LB/B rs34422496 - RD3 Q7Z3Z2 VAR_031512 p.Gly35Arg LB/B rs530024772 - RD3 Q7Z3Z2 VAR_031513 p.Gly57Val LB/B rs767481165 - RD3 Q7Z3Z2 VAR_031514 p.Arg68Trp LB/B rs144697496 - RD3 Q7Z3Z2 VAR_031515 p.Lys130Met LB/B rs766015590 - RD3 Q7Z3Z2 VAR_031516 p.Arg167Lys LB/B rs74782684 - RD3 Q7Z3Z2 VAR_031517 p.Asp195Val LB/B rs143207434 - RDH12 Q96NR8 VAR_020858 p.Thr49Met LP/P rs28940314 Leber congenital amaurosis 13 (LCA13) [MIM:612712] RDH12 Q96NR8 VAR_020859 p.Ile51Asn LP/P rs104894473 Leber congenital amaurosis 13 (LCA13) [MIM:612712] RDH12 Q96NR8 VAR_020860 p.Leu99Ile LP/P rs28940315 Leber congenital amaurosis 13 (LCA13) [MIM:612712] RDH12 Q96NR8 VAR_020861 p.His151Asp LP/P rs104894475 Leber congenital amaurosis 13 (LCA13) [MIM:612712] RDH12 Q96NR8 VAR_020862 p.His151Asn LP/P rs104894475 Leber congenital amaurosis 13 (LCA13) [MIM:612712] RDH12 Q96NR8 VAR_020863 p.Ser175Pro LP/P rs104894472 Leber congenital amaurosis 13 (LCA13) [MIM:612712] RDH12 Q96NR8 VAR_020864 p.Tyr226Cys LP/P rs28940313 Leber congenital amaurosis 13 (LCA13) [MIM:612712] RDH12 Q96NR8 VAR_020865 p.Pro230Ala LP/P rs104894476 Leber congenital amaurosis 13 (LCA13) [MIM:612712] RDH12 Q96NR8 VAR_028281 p.Arg161Gln LB/B rs17852293 - RDH12 Q96NR8 VAR_064163 p.Ala47Thr LB/B rs761231974 - RDH12 Q96NR8 VAR_064164 p.Thr55Met LB/B rs766631462 - RDH12 Q96NR8 VAR_064165 p.Arg65Gln LB/B rs745471670 - RDH12 Q96NR8 VAR_064166 p.Gly76Arg LP/P rs368489658 Retinitis pigmentosa 53 (RP53) [MIM:612712] RDH12 Q96NR8 VAR_064167 p.Asp101Asn LB/B rs148334092 - RDH12 Q96NR8 VAR_064168 p.Asn125Lys US - - RDH12 Q96NR8 VAR_064169 p.Ala126Val LP/P rs202126574 Retinitis pigmentosa 53 (RP53) [MIM:612712] RDH12 Q96NR8 VAR_064170 p.Gly145Glu LB/B rs907600014 - RDH12 Q96NR8 VAR_064171 p.Thr155Ile LB/B rs121434337 - RDH12 Q96NR8 VAR_064172 p.Arg193Cys US rs148629905 - RDH12 Q96NR8 VAR_064173 p.Ala206Asp US - - RDH12 Q96NR8 VAR_064174 p.Ala206Val US rs1254096311 - RDH12 Q96NR8 VAR_064175 p.Pro230Leu US - - RDH12 Q96NR8 VAR_064176 p.Arg234His US rs750636662 - RDH12 Q96NR8 VAR_064177 p.Arg239Trp LB/B rs751589863 - RDH12 Q96NR8 VAR_064178 p.Leu274Pro US - - RDH12 Q96NR8 VAR_064179 p.Cys285Tyr LB/B rs973306929 - RDH12 Q96NR8 VAR_067193 p.Ala79Val LB/B rs763414313 - RDH12 Q96NR8 VAR_081222 p.Val146Asp US rs116649873 Retinitis pigmentosa 53 (RP53) [MIM:612712] RDH5 Q92781 VAR_009272 p.Ile33Val LB/B rs62638195 - RDH5 Q92781 VAR_009273 p.Ser73Phe LP/P rs62638185 Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_009274 p.Gly238Trp LP/P rs62638191 Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_016814 p.Gly35Ser LP/P rs759359491 Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_016815 p.Gly107Arg LP/P - Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_016816 p.Val132Met LP/P rs62638187 Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_016817 p.Val164Phe LP/P rs755168439 Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_016818 p.Val177Gly LP/P rs104894373 Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_016819 p.Cys267Trp LP/P - Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_016820 p.Arg280His LP/P rs62638193 Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_016821 p.Tyr281His LP/P rs62638194 Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_016822 p.Ala294Pro LP/P rs111033593 Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_052321 p.Arg21Gln LB/B rs3138143 - RDH5 Q92781 VAR_052322 p.Arg70Gly LB/B rs1058635 - RDH5 Q92781 VAR_068716 p.Leu105Ile LP/P rs765993603 Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_068717 p.Asp128Asn LP/P rs377029071 Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_068718 p.Arg157Trp LP/P rs104894374 Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_068719 p.Val264Gly LP/P - Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_075309 p.Tyr175Phe LP/P rs758411232 Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_081462 p.Met253Arg LP/P rs780377973 Fundus albipunctatus (FALBI) [MIM:136880] RDH5 Q92781 VAR_081472 p.Lys179Arg LP/P rs781112960 Fundus albipunctatus (FALBI) [MIM:136880] RDH8 Q9NYR8 VAR_035232 p.His136Gln LB/B rs1122206 - RDH8 Q9NYR8 VAR_035233 p.Met202Thr LB/B rs1644731 - RDM1 Q8NG50 VAR_034835 p.His32Arg LB/B rs2280786 - RDM1 Q8NG50 VAR_034836 p.Cys127Trp LB/B rs2251660 - RDX P35241 VAR_036857 p.Lys328Glu LB/B rs17854427 - RDX P35241 VAR_036858 p.Asp490Asn LB/B rs34471100 - RDX P35241 VAR_036859 p.Asp578Asn LP/P rs121918379 Deafness, autosomal recessive, 24 (DFNB24) [MIM:611022] REC114 Q7Z4M0 VAR_050893 p.Val148Met LB/B rs12102004 - REC114 Q7Z4M0 VAR_085251 p.Cys133Gly US rs1894381872 Oocyte/zygote/embryo maturation arrest 10 (OZEMA10) [MIM:619176] REC8 O95072 VAR_051722 p.Arg31Cys LB/B rs34075659 - REC8 O95072 VAR_051723 p.Pro294Leu LB/B rs35425516 - REC8 O95072 VAR_058128 p.Val411Phe LB/B rs17855369 - RECK O95980 VAR_034021 p.Val275Ile LB/B rs16932912 - RECQL P46063 VAR_016140 p.Lys487Thr LB/B rs6501 - RECQL P46063 VAR_016141 p.Asp495His LB/B rs6499 - RECQL P46063 VAR_034679 p.Val102Ile LB/B rs1065751 - RECQL P46063 VAR_051732 p.Val372Ile LB/B rs2230003 - RECQL P46063 VAR_088584 p.Ala459Ser LP/P rs1055710310 RECON progeroid syndrome (RECON) [MIM:620370] RECQL4 O94761 VAR_023295 p.Glu267Asp LB/B rs4244612 - RECQL4 O94761 VAR_023296 p.Arg355Gln LB/B rs374743591 - RECQL4 O94761 VAR_023297 p.Pro441Ser LB/B rs557142414 - RECQL4 O94761 VAR_023299 p.Arg1005Gln LB/B rs4251691 - RECQL4 O94761 VAR_025117 p.Gln54Arg LB/B rs35198096 - RECQL4 O94761 VAR_025118 p.Glu71Gly LB/B rs34642881 - RECQL4 O94761 VAR_025119 p.Ser92Pro LB/B rs2721190 - RECQL4 O94761 VAR_025120 p.Gly189Ser LB/B rs34371341 - RECQL4 O94761 VAR_025121 p.Ala273Thr LB/B rs34103564 - RECQL4 O94761 VAR_025122 p.Glu301Lys LB/B rs34633809 - RECQL4 O94761 VAR_025123 p.Arg522Cys LB/B rs35407712 - RECQL4 O94761 VAR_025124 p.Arg522His LB/B rs35842750 - RECQL4 O94761 VAR_025125 p.Pro591Leu LB/B rs2721191 - RECQL4 O94761 VAR_025126 p.Pro793Ser LB/B rs35098923 - RECQL4 O94761 VAR_025127 p.Val799Met LB/B rs34293591 - RECQL4 O94761 VAR_025128 p.Pro964Thr LB/B rs33972310 - RECQL4 O94761 VAR_025129 p.Glu976Lys LB/B rs35070885 - RECQL4 O94761 VAR_025130 p.Arg1004Trp LB/B rs36023964 - RECQL4 O94761 VAR_025131 p.Arg1021Gln LB/B rs34666647 - RECQL4 O94761 VAR_025132 p.Ala1045Thr LB/B rs35348691 - RECQL4 O94761 VAR_025133 p.Gly1105Asp LB/B rs36078464 - RECQL4 O94761 VAR_025134 p.Gly1105Ser LB/B rs34915097 - RECQL4 O94761 VAR_025135 p.Arg1106His LB/B rs34236392 - RECQL4 O94761 VAR_025136 p.Gly1113Arg LB/B rs35101495 - RECQL4 O94761 VAR_025137 p.Ser1148Phe LB/B rs35346077 - RECQL4 O94761 VAR_026590 p.Ser523Thr LB/B rs754735053 - RECQL4 O94761 VAR_026591 p.Arg1021Trp LP/P rs137853232 Baller-Gerold syndrome (BGS) [MIM:218600] RECQL4 O94761 VAR_057125 p.Pro793Leu LB/B rs1034558903 - RECQL4 O94761 VAR_083742 p.Pro103Leu LB/B rs199543866 - RECQL4 O94761 VAR_083745 p.Pro1170Leu LB/B rs772265082 - RECQL5 O94762 VAR_024272 p.Asp480Gly LB/B rs820196 - RECQL5 O94762 VAR_051733 p.Ser628Asn LB/B rs35566780 - REDIC1 Q86WS4 VAR_061610 p.Ile13Leu LB/B rs58302581 - REEP1 Q9H902 VAR_027351 p.Ala20Glu LP/P rs121918262 Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250] REEP1 Q9H902 VAR_067265 p.Pro19Leu LP/P - Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250] REEP1 Q9H902 VAR_067266 p.Ser23Phe LP/P - Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250] REEP1 Q9H902 VAR_067267 p.Trp42Arg LP/P - Neuronopathy, distal hereditary motor, autosomal recessive 6 (HMNR6) [MIM:620011] REEP1 Q9H902 VAR_067267 p.Trp42Arg LP/P - Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250] REEP1 Q9H902 VAR_067268 p.Asp56Asn US rs1060503493 Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250] REEP1 Q9H902 VAR_072609 p.Pro19Arg LP/P rs1060503496 Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250] REEP1 Q9H902 VAR_072610 p.Thr55Lys US rs1677004351 Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250] REEP1 Q9H902 VAR_072611 p.Leu107Pro LP/P - Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250] REEP2 Q9BRK0 VAR_070996 p.Val36Glu LP/P rs483352923 Spastic paraplegia 72A, autosomal dominant (SPG72A) [MIM:615625] REEP2 Q9BRK0 VAR_070997 p.Phe72Tyr LP/P rs483352925 Spastic paraplegia 72B, autosomal recessive (SPG72B) [MIM:620606] REEP3 Q6NUK4 VAR_048926 p.Gln171Arg LB/B rs10995569 - REEP6 Q96HR9 VAR_048927 p.Ala150Asp LB/B rs2271412 - REEP6 Q96HR9 VAR_077931 p.Pro128Leu LP/P rs1057519317 Retinitis pigmentosa 77 (RP77) [MIM:617304] REEP6 Q96HR9 VAR_077932 p.Leu135Pro LP/P rs1057519316 Retinitis pigmentosa 77 (RP77) [MIM:617304] REEP6 Q96HR9 VAR_081396 p.Glu75Lys LP/P rs144942685 Retinitis pigmentosa 77 (RP77) [MIM:617304] REG1B P48304 VAR_050121 p.Arg109His LB/B rs7586984 - REG4 Q9BYZ8 VAR_050122 p.Asn135His LB/B rs34996202 - RELB Q01201 VAR_051782 p.Thr396Met LB/B rs770682728 - RELCH Q9P260 VAR_037660 p.Gly929Glu US rs770815767 A colorectal cancer sample RELL2 Q8NC24 VAR_027496 p.Ser128Pro LB/B rs17855845 - RELL2 Q8NC24 VAR_027497 p.Leu133Ile LB/B rs14251 - RELL2 Q8NC24 VAR_027498 p.Gly196Arg LB/B rs17855844 - RELL2 Q8NC24 VAR_027499 p.Gln283Glu LB/B rs11742646 - RELN P78509 VAR_047977 p.Thr978Ala LB/B rs3025962 - RELN P78509 VAR_047978 p.Leu997Val LB/B rs362691 - RELN P78509 VAR_057712 p.Pro1703Arg LB/B rs2229860 - RELN P78509 VAR_073862 p.Pro672Leu LP/P rs201044262 Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436] RELN P78509 VAR_073863 p.Tyr723Cys LP/P rs768119894 Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436] RELN P78509 VAR_073864 p.Asp763Gly LP/P rs794727998 Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436] RELN P78509 VAR_073865 p.His798Asn LP/P rs794727996 Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436] RELN P78509 VAR_073866 p.Pro844Leu LP/P rs797045000 Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436] RELN P78509 VAR_073867 p.Gly2783Cys LP/P rs794727997 Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436] RELN P78509 VAR_073868 p.Glu3176Lys LP/P rs794727999 Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436] RELT Q969Z4 VAR_022614 p.Ala332Val LB/B rs12362779 - RELT Q969Z4 VAR_082198 p.Arg422Pro US rs762816338 Amelogenesis imperfecta 3C (AI3C) [MIM:618386] REM1 O75628 VAR_049498 p.His28Arg LB/B rs1006459 - REM1 O75628 VAR_049499 p.Pro59Ala LB/B rs2233829 - REM1 O75628 VAR_061232 p.Arg45Trp LB/B rs59730832 - REM2 Q8IYK8 VAR_055938 p.Gly96Ala LB/B rs8014119 - REN P00797 VAR_020375 p.Arg33Trp LB/B rs11571098 - REN P00797 VAR_020376 p.Gly217Arg LB/B rs11571117 - REN P00797 VAR_029171 p.Gln160Lys LB/B rs11571083 - REN P00797 VAR_035087 p.Arg230Lys LP/P rs121917742 Renal tubular dysgenesis (RTD) [MIM:267430] REN P00797 VAR_035088 p.Asp104Asn LP/P rs868694193 Renal tubular dysgenesis (RTD) [MIM:267430] REN P00797 VAR_063770 p.Leu16Arg LP/P rs121917743 Tubulointerstitial kidney disease, autosomal dominant, 4 (ADTKD4) [MIM:613092] RENBP P51606 VAR_029339 p.Gln169Arg LB/B rs2229241 - RENBP P51606 VAR_049182 p.Asp284Gly LB/B rs2269371 - REP15 Q6BDI9 VAR_039548 p.Asn101Asp LB/B rs929949 - REP15 Q6BDI9 VAR_039549 p.Glu206Asp LB/B rs12819160 - REPIN1 Q9BWE0 VAR_030364 p.Leu14Pro LB/B rs3735165 - REPIN1 Q9BWE0 VAR_030365 p.Pro88Ser LB/B rs11553624 - REPIN1 Q9BWE0 VAR_030366 p.Arg92His LB/B rs17173702 - REPIN1 Q9BWE0 VAR_030367 p.Ala97Val LB/B rs17173703 - REPIN1 Q9BWE0 VAR_052730 p.Gly49Arg LB/B rs35090619 - REPS1 Q96D71 VAR_080634 p.Val78Leu LP/P rs1554292444 Neurodegeneration with brain iron accumulation 7 (NBIA7) [MIM:617916] REPS1 Q96D71 VAR_080635 p.Ala113Glu LP/P rs201191394 Neurodegeneration with brain iron accumulation 7 (NBIA7) [MIM:617916] REPS2 Q8NFH8 VAR_069419 p.Ser321Cys LB/B - - RERE Q9P2R6 VAR_077007 p.Val471Ile US rs765016528 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) [MIM:616975] RERE Q9P2R6 VAR_077008 p.Gly1156Arg US rs766951273 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) [MIM:616975] RERE Q9P2R6 VAR_077009 p.Pro1262Arg US rs878853270 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) [MIM:616975] RERE Q9P2R6 VAR_077010 p.His1431Gln US rs869312871 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) [MIM:616975] RERGL Q9H628 VAR_039208 p.Met163Val LB/B rs941048 - RESF1 Q9HCM1 VAR_033268 p.Ile59Val LB/B rs7298803 - RESF1 Q9HCM1 VAR_033269 p.His106Gln LB/B rs2388981 - RESF1 Q9HCM1 VAR_033270 p.Ile202Val LB/B rs12320740 - RESF1 Q9HCM1 VAR_033271 p.Leu250Pro LB/B rs2166807 - RESF1 Q9HCM1 VAR_033272 p.Arg309Gln LB/B rs16919122 - RESF1 Q9HCM1 VAR_033273 p.Ser346Asn LB/B rs3207618 - RESF1 Q9HCM1 VAR_033274 p.Ser352Gly LB/B rs10771894 - RESF1 Q9HCM1 VAR_033275 p.Ser433Thr LB/B rs3759302 - RESF1 Q9HCM1 VAR_033276 p.Ser518Pro LB/B rs3759301 - RESF1 Q9HCM1 VAR_033277 p.Phe954Ser LB/B rs3809228 - RESF1 Q9HCM1 VAR_033278 p.Thr1010Lys LB/B rs16919127 - RESF1 Q9HCM1 VAR_033279 p.Ser1208Cys LB/B rs3759299 - RESF1 Q9HCM1 VAR_033280 p.Val1226Ile LB/B rs1057994 - RESF1 Q9HCM1 VAR_033281 p.Thr1338Ala LB/B rs3759296 - RESF1 Q9HCM1 VAR_061608 p.Pro147Ser LB/B rs61353224 - RESF1 Q9HCM1 VAR_061609 p.Met1479Thr LB/B rs56682866 - REST Q13127 VAR_029795 p.Val626Ile LB/B rs2228991 - REST Q13127 VAR_029796 p.Glu692Asp LB/B rs2227902 - REST Q13127 VAR_029797 p.Lys762Gln LB/B rs2227903 - REST Q13127 VAR_029798 p.Pro797Leu LB/B rs3796529 - REST Q13127 VAR_076333 p.Arg160Pro LP/P - Wilms tumor 6 (WT6) [MIM:616806] REST Q13127 VAR_076334 p.Asn290Tyr LP/P - Wilms tumor 6 (WT6) [MIM:616806] REST Q13127 VAR_076335 p.His322Arg LP/P rs869025312 Wilms tumor 6 (WT6) [MIM:616806] REST Q13127 VAR_076336 p.His412Gln LP/P - Wilms tumor 6 (WT6) [MIM:616806] RET P07949 VAR_006295 p.Ser32Leu LP/P rs76764689 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006296 p.Pro64Leu LP/P rs77596424 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006297 p.Gly93Ser US rs1477699803 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006298 p.Cys142Ser LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006299 p.Arg231His LP/P rs79661516 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006300 p.Glu251Lys LP/P rs562449603 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006301 p.Arg287Gln LP/P rs1564491460 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006302 p.Arg330Gln LP/P rs80236571 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006303 p.Phe393Leu LP/P rs78098482 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006304 p.Pro399Leu LP/P rs1554818362 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006305 p.Arg475Gln LP/P rs138624658 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006306 p.Cys609Tyr LP/P rs77939446 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006306 p.Cys609Tyr LP/P rs77939446 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006306 p.Cys609Tyr LP/P rs77939446 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006307 p.Cys609Trp LP/P rs377767396 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006308 p.Cys611Trp LP/P rs80069458 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006308 p.Cys611Trp LP/P rs80069458 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006309 p.Cys611Tyr LP/P rs377767397 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006310 p.Cys618Gly LP/P rs76262710 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006311 p.Cys618Arg LP/P rs76262710 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006311 p.Cys618Arg LP/P rs76262710 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006311 p.Cys618Arg LP/P rs76262710 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006312 p.Cys618Phe LP/P rs79781594 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006312 p.Cys618Phe LP/P rs79781594 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006313 p.Cys618Ser LP/P rs79781594 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006313 p.Cys618Ser LP/P rs79781594 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006313 p.Cys618Ser LP/P rs79781594 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006314 p.Cys618Tyr LP/P rs79781594 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006314 p.Cys618Tyr LP/P rs79781594 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006315 p.Cys620Gly LP/P rs77316810 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006315 p.Cys620Gly LP/P rs77316810 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006316 p.Cys620Arg LP/P rs77316810 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006316 p.Cys620Arg LP/P rs77316810 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006316 p.Cys620Arg LP/P rs77316810 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006317 p.Cys620Ser LP/P rs77503355 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006317 p.Cys620Ser LP/P rs77503355 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006318 p.Cys620Phe LP/P rs77503355 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006318 p.Cys620Phe LP/P rs77503355 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006319 p.Cys620Tyr LP/P rs77503355 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006320 p.Cys630Phe LP/P rs377767405 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006320 p.Cys630Phe LP/P rs377767405 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006321 p.Asp631Gly US rs121913308 Thyroid carcinoma RET P07949 VAR_006323 p.Cys634Gly LP/P rs75076352 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006323 p.Cys634Gly LP/P rs75076352 Pheochromocytoma (PCC) [MIM:171300] RET P07949 VAR_006324 p.Cys634Phe LP/P rs75996173 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006324 p.Cys634Phe LP/P rs75996173 Pheochromocytoma (PCC) [MIM:171300] RET P07949 VAR_006325 p.Cys634Tyr LP/P rs75996173 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006325 p.Cys634Tyr LP/P rs75996173 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006325 p.Cys634Tyr LP/P rs75996173 Pheochromocytoma (PCC) [MIM:171300] RET P07949 VAR_006326 p.Cys634Arg LP/P rs75076352 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006326 p.Cys634Arg LP/P rs75076352 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006326 p.Cys634Arg LP/P rs75076352 Pheochromocytoma (PCC) [MIM:171300] RET P07949 VAR_006327 p.Cys634Ser LP/P rs75076352 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006327 p.Cys634Ser LP/P rs75076352 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006327 p.Cys634Ser LP/P rs75076352 Pheochromocytoma (PCC) [MIM:171300] RET P07949 VAR_006328 p.Cys634Trp LP/P rs77709286 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006328 p.Cys634Trp LP/P rs77709286 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_006328 p.Cys634Trp LP/P rs77709286 Pheochromocytoma (PCC) [MIM:171300] RET P07949 VAR_006331 p.Ser690Pro LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006332 p.Gly691Ser LB/B rs1799939 - RET P07949 VAR_006334 p.Ser767Arg LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006335 p.Glu768Asp LP/P rs78014899 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006336 p.Val804Leu LP/P rs79658334 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006337 p.Val804Met LP/P rs79658334 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006338 p.Arg873Gln LP/P rs1451004715 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006339 p.Phe893Leu LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006340 p.Arg897Gln LP/P rs76087194 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006341 p.Lys907Glu LP/P rs377767430 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006342 p.Met918Thr LP/P rs74799832 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006342 p.Met918Thr LP/P rs74799832 Multiple neoplasia 2B (MEN2B) [MIM:162300] RET P07949 VAR_006343 p.Glu921Lys LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006345 p.Thr946Met LP/P - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006345 p.Thr946Met LP/P - Multiple neoplasia 2B (MEN2B) [MIM:162300] RET P07949 VAR_006346 p.Arg972Gly LP/P rs76534745 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006347 p.Pro973Leu LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006348 p.Met980Thr LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_006349 p.Arg982Cys LB/B rs17158558 - RET P07949 VAR_008966 p.Arg600Gln LB/B rs377767393 - RET P07949 VAR_009459 p.Pro20Leu LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009460 p.Arg77Cys LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009461 p.Cys157Tyr US - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009462 p.Phe174Ser LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009463 p.Arg180Pro LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009464 p.Cys197Tyr LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009465 p.Arg313Gln LP/P rs77702891 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009466 p.Asn359Lys US - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009467 p.Arg360Trp LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009468 p.Asn394Lys LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009470 p.Cys609Gly LP/P rs77558292 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_009471 p.Cys609Arg LP/P rs77558292 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_009472 p.Cys611Gly LP/P rs377767391 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_009473 p.Cys611Arg LP/P rs377767391 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_009474 p.Cys611Ser LP/P rs377767391 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_009475 p.Cys620Trp LP/P rs79890926 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009475 p.Cys620Trp LP/P rs79890926 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_009476 p.Gln626Lys LP/P rs1255575160 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009477 p.Cys630Ser LP/P rs377767405 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_009478 p.Cys630Tyr LP/P rs377767405 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_009480 p.Ala640Gly LP/P rs78935588 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_009481 p.Glu762Gln LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009482 p.Leu790Phe LP/P rs75030001 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_009482 p.Leu790Phe LP/P rs75030001 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_009483 p.Tyr791Phe LP/P rs77724903 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009483 p.Tyr791Phe LP/P rs77724903 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_009483 p.Tyr791Phe LP/P rs77724903 Multiple neoplasia 2A (MEN2A) [MIM:171400] RET P07949 VAR_009483 p.Tyr791Phe LP/P rs77724903 Pheochromocytoma (PCC) [MIM:171300] RET P07949 VAR_009484 p.Arg813Gln LP/P rs1318733775 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009485 p.Ala883Phe LP/P rs377767429 Multiple neoplasia 2B (MEN2B) [MIM:162300] RET P07949 VAR_009486 p.Ser891Ala LP/P rs75234356 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_009487 p.Ser922Tyr LB/B rs377767432 - RET P07949 VAR_009488 p.Pro1039Gln LB/B rs79853121 - RET P07949 VAR_009490 p.Leu1061Pro LP/P rs536486113 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009491 p.Met1064Thr LP/P rs149513065 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009492 p.Leu40Pro LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_009493 p.Ser765Pro LP/P rs75075748 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_011582 p.Arg844Leu LP/P rs55947360 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_012743 p.Ala639Gly LP/P - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_012744 p.Ala641Gly LP/P - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_012745 p.Ser922Phe LP/P rs377767432 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_018153 p.Arg67His LB/B rs192489011 - RET P07949 VAR_018154 p.Arg114His LB/B rs76397662 - RET P07949 VAR_018155 p.Ala432Glu US rs552057730 - RET P07949 VAR_018156 p.Asp489Asn LB/B rs9282834 - RET P07949 VAR_018157 p.Pro1039Leu LP/P rs79853121 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_035711 p.Val145Gly LP/P rs1588863999 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_035712 p.Gly593Glu US - A colorectal cancer sample RET P07949 VAR_041762 p.Arg163Gln US rs149403911 A colorectal adenocarcinoma sample RET P07949 VAR_041763 p.Thr278Asn LB/B rs35118262 - RET P07949 VAR_041764 p.Val292Met US rs34682185 - RET P07949 VAR_041765 p.Arg749Thr LB/B rs34288963 - RET P07949 VAR_041766 p.Tyr826Ser LB/B rs34617196 - RET P07949 VAR_041767 p.Phe1112Tyr US - A bladder transitional cell carcinoma sample RET P07949 VAR_044392 p.Pro198Thr US rs76736111 - RET P07949 VAR_044393 p.Val376Ala US - - RET P07949 VAR_044394 p.Asn394His US - - RET P07949 VAR_044395 p.Val778Ile US rs75686697 - RET P07949 VAR_044396 p.Gly894Ser US - - RET P07949 VAR_044397 p.Pro1049Leu US rs1490712863 - RET P07949 VAR_044398 p.Pro1067Ser US rs775583354 - RET P07949 VAR_067101 p.Arg114Cys US rs747483905 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067102 p.Pro155Leu LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067103 p.Arg175Pro LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067104 p.Thr278Ala LP/P rs541929171 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067105 p.Thr278Pro LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067106 p.Asp300Asn LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067107 p.Ser316Ile LP/P rs1060499894 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067108 p.Ser339Leu LP/P rs774829203 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067109 p.Asp353Tyr LP/P rs1837785429 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067110 p.Arg360Gln LP/P rs762472027 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067111 p.Val397Met LP/P rs183729115 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067112 p.Val412Met LP/P rs746970700 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067113 p.Gly423Arg LP/P rs767601598 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067114 p.Glu480Lys LP/P rs537874538 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067116 p.Glu595Gln LP/P rs1483605155 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067117 p.Pro679Leu LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067118 p.Arg694Gln LP/P rs141185224 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067119 p.Asn783Ser LP/P rs587778656 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067120 p.Gly830Arg LP/P rs200127630 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067121 p.Lys907Thr LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067122 p.Phe961Leu LP/P - Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067123 p.Leu1052Val LP/P rs1564501947 Hirschsprung disease 1 (HSCR1) [MIM:142623] RET P07949 VAR_067124 p.Tyr1062Cys LP/P rs587778659 Hirschsprung disease 1 (HSCR1) [MIM:142623] RETNLB Q9BQ08 VAR_051791 p.Pro20Leu LB/B rs11708527 - RETREG1 Q9H6L5 VAR_032422 p.Gln379Glu LB/B rs34432513 - RETREG1 Q9H6L5 VAR_068477 p.Gly216Arg US rs1579584286 - RETREG2 Q8NC44 VAR_022835 p.Pro419Gln LB/B rs3731900 - RETREG2 Q8NC44 VAR_033720 p.Arg374His LB/B rs3210652 - RETSAT Q6NUM9 VAR_025473 p.Ala533Val LB/B rs4832169 - RETSAT Q6NUM9 VAR_059243 p.Gly536Arg LB/B rs4832168 - RETSAT Q6NUM9 VAR_059244 p.Pro559Thr LB/B rs13384912 - REV1 Q9UBZ9 VAR_021249 p.Val138Met LB/B rs3087403 - REV1 Q9UBZ9 VAR_021250 p.Phe257Ser LB/B rs3087386 - REV1 Q9UBZ9 VAR_021251 p.Asn373Ser LB/B rs3087399 - REV1 Q9UBZ9 VAR_024436 p.Ala1003Thr LB/B rs3087401 - REV1 Q9UBZ9 VAR_029193 p.Asn306Asp LB/B rs28382882 - REV1 Q9UBZ9 VAR_029194 p.Met656Val LB/B rs3087394 - REV1 Q9UBZ9 VAR_029195 p.Leu660Trp LB/B rs3087398 - REV1 Q9UBZ9 VAR_029196 p.Asp700Asn LB/B rs28382941 - REV1 Q9UBZ9 VAR_029197 p.Arg704Gln LB/B rs28382942 - REV1 Q9UBZ9 VAR_029198 p.Pro902Ser LB/B rs28382960 - REV1 Q9UBZ9 VAR_029199 p.Pro902His LB/B rs28382961 - REV1 Q9UBZ9 VAR_029200 p.Ser921Ile LB/B rs3087396 - REV1 Q9UBZ9 VAR_029201 p.Pro1060Thr LB/B rs3087388 - REV1 Q9UBZ9 VAR_029202 p.Asn1074Lys LB/B rs3087393 - REV1 Q9UBZ9 VAR_029203 p.Asn1091Thr LB/B rs3087392 - REV1 Q9UBZ9 VAR_029204 p.Leu1102Pro LB/B rs3087400 - REV3L O60673 VAR_008516 p.Gln231His LB/B rs1053911 - REV3L O60673 VAR_008517 p.Ser389Thr LB/B - - REV3L O60673 VAR_008518 p.Lys1540Glu LB/B rs1053913 - REV3L O60673 VAR_008519 p.Ser2607Thr LB/B - - REV3L O60673 VAR_016147 p.Val3064Ile LB/B rs3204953 - REV3L O60673 VAR_022226 p.Gln397Pro LB/B rs3218579 - REV3L O60673 VAR_022227 p.Met693Thr LB/B rs3218593 - REV3L O60673 VAR_022228 p.Arg962Gln LB/B rs17539588 - REV3L O60673 VAR_022229 p.Tyr1156Cys LB/B rs458017 - REV3L O60673 VAR_022230 p.Thr1224Ile LB/B rs462779 - REV3L O60673 VAR_022231 p.Ser1302Thr LB/B rs3218597 - REV3L O60673 VAR_022232 p.Gln1309His LB/B rs3218595 - REV3L O60673 VAR_022233 p.Pro1339Thr LB/B rs17539616 - REV3L O60673 VAR_022234 p.Gln1469Pro LB/B rs3218572 - REV3L O60673 VAR_022235 p.Ser1576Leu LB/B rs3218582 - REV3L O60673 VAR_022236 p.Asp1713Asn LB/B rs3218585 - REV3L O60673 VAR_022237 p.Ser1724Thr LB/B rs17539644 - REV3L O60673 VAR_022238 p.Pro1791Ser LB/B rs17539651 - REV3L O60673 VAR_022239 p.Asp1812His LB/B rs3218599 - REV3L O60673 VAR_022240 p.Gly1923Arg LB/B rs3218604 - REV3L O60673 VAR_022241 p.Arg1970His LB/B rs3218606 - REV3L O60673 VAR_022242 p.Glu2015Val LB/B rs17539692 - REV3L O60673 VAR_022243 p.Ile2075Met LB/B rs17510963 - REV3L O60673 VAR_022244 p.Arg2762Gln LB/B rs3218592 - REV3L O60673 VAR_048883 p.Ser633Gly LB/B rs3218598 - REV3L O60673 VAR_048884 p.Ser1220Leu LB/B rs3218600 - REV3L O60673 VAR_048885 p.Thr1284Pro LB/B rs3218578 - REXO1 Q8N1G1 VAR_026587 p.Ser886Gly LB/B rs2396359 - REXO1 Q8N1G1 VAR_057148 p.Val408Ala LB/B rs10415018 - REXO1 Q8N1G1 VAR_057149 p.Ile804Val LB/B rs34831403 - REXO1 Q8N1G1 VAR_060444 p.Ser759Pro LB/B rs4807145 - REXO4 Q9GZR2 VAR_023067 p.Arg141Lys LB/B rs6597630 - REXO4 Q9GZR2 VAR_023068 p.Thr283Ala LB/B rs2285487 - RFC1 P35251 VAR_014860 p.Ile598Val LB/B rs2066791 - RFC1 P35251 VAR_016986 p.Arg613Leu LB/B rs1057747 - RFC1 P35251 VAR_020657 p.Glu692Asp LB/B rs11932767 - RFC1 P35251 VAR_020658 p.Gln955Lys LB/B rs17335452 - RFC1 P35251 VAR_020659 p.Ser1146Leu LB/B rs17288828 - RFC2 P35250 VAR_023126 p.Ala232Val LB/B rs3135684 - RFC3 P40938 VAR_018750 p.Leu16Val LB/B rs3135533 - RFC4 P35249 VAR_014307 p.Val292Ala LB/B rs2066497 - RFC4 P35249 VAR_036121 p.Thr354Ser US - A breast cancer sample RFC5 P40937 VAR_018749 p.Ala13Thr LB/B rs5745796 - RFPL1 O75677 VAR_020115 p.Met127Thr LB/B rs3804076 - RFPL1 O75677 VAR_039572 p.Trp94Arg LB/B rs16987627 - RFPL2 O75678 VAR_060534 p.Ala119Thr LB/B rs8135276 - RFPL2 O75678 VAR_060535 p.Cys141Tyr LB/B rs136478 - RFPL2 O75678 VAR_060536 p.Gln215His LB/B rs56240743 - RFPL2 O75678 VAR_060537 p.Thr290Ser LB/B rs136472 - RFPL2 O75678 VAR_060538 p.Ser324Gly LB/B rs136470 - RFPL2 O75678 VAR_060539 p.Arg341Cys LB/B rs136468 - RFPL2 O75678 VAR_060540 p.Val348Ile LB/B rs136467 - RFPL3 O75679 VAR_052091 p.Met83Thr LB/B rs16987625 - RFPL3 O75679 VAR_052092 p.Leu110Met LB/B rs9621427 - RFPL3 O75679 VAR_052093 p.Asp126Asn LB/B rs9619258 - RFPL3 O75679 VAR_059814 p.Tyr181Cys LB/B rs5749408 - RFPL4B Q6ZWI9 VAR_044525 p.Gly234Asp LB/B rs11153361 - RFT1 Q96AA3 VAR_037215 p.Ala185Thr LB/B rs35221142 - RFT1 Q96AA3 VAR_044334 p.Arg67Cys LP/P rs118203913 Congenital disorder of glycosylation 1N (CDG1N) [MIM:612015] RFT1 Q96AA3 VAR_062572 p.Lys152Glu LP/P rs763862849 Congenital disorder of glycosylation 1N (CDG1N) [MIM:612015] RFT1 Q96AA3 VAR_062573 p.Glu298Lys LP/P rs796053521 Congenital disorder of glycosylation 1N (CDG1N) [MIM:612015] RFTN1 Q14699 VAR_051317 p.Glu248Lys LB/B rs34276015 - RFTN1 Q14699 VAR_061699 p.Val421Ile LB/B rs11554130 - RFWD3 Q6PCD5 VAR_030700 p.Thr90Asn LB/B rs8058922 - RFWD3 Q6PCD5 VAR_030701 p.Arg392Lys LB/B rs17854997 - RFWD3 Q6PCD5 VAR_030702 p.Ile564Val LB/B rs7193541 - RFWD3 Q6PCD5 VAR_030703 p.Ile770Thr LB/B rs17854996 - RFWD3 Q6PCD5 VAR_078953 p.Ile639Lys LP/P rs1555524842 Fanconi anemia, complementation group W (FANCW) [MIM:617784] RFX1 P22670 VAR_059781 p.Thr370Ala LB/B rs2305780 - RFX2 P48378 VAR_036530 p.Ala37Gly US - A breast cancer sample RFX2 P48378 VAR_036531 p.Glu110Lys US rs748493309 A breast cancer sample RFX2 P48378 VAR_057151 p.Ala86Thr LB/B rs2288846 - RFX2 P48378 VAR_058416 p.Arg610Gln LB/B rs17852566 - RFX4 Q33E94 VAR_037873 p.Ser687Asn LB/B - - RFX4 Q33E94 VAR_057152 p.Ser698Ala LB/B rs17038766 - RFX5 P48382 VAR_015550 p.Arg149Gln LP/P rs137853099 Bare lymphocyte syndrome 2 (BLS2) [MIM:209920] RFX5 P48382 VAR_034448 p.Arg197Gln LB/B rs2233851 - RFX5 P48382 VAR_034449 p.Pro409Arg LB/B rs2233854 - RFX5 P48382 VAR_034450 p.Pro499Ser LB/B rs2233855 - RFX6 Q8HWS3 VAR_037709 p.Glu6Lys LB/B rs17853900 - RFX6 Q8HWS3 VAR_037710 p.Thr688Ala LB/B rs17857184 - RFX6 Q8HWS3 VAR_037711 p.Ser743Asn LB/B rs582803 - RFX6 Q8HWS3 VAR_061768 p.Ala17Glu LB/B rs9489056 - RFX6 Q8HWS3 VAR_062978 p.Arg181Gln LP/P rs267607013 Mitchell-Riley syndrome (MTCHRS) [MIM:615710] RFX6 Q8HWS3 VAR_062979 p.Ser217Pro LP/P rs267607012 Mitchell-Riley syndrome (MTCHRS) [MIM:615710] RFX6 Q8HWS3 VAR_074215 p.Val506Gly LP/P - Mitchell-Riley syndrome (MTCHRS) [MIM:615710] RFX7 Q2KHR2 VAR_044135 p.Gly531Val LB/B rs16976751 - RFX7 Q2KHR2 VAR_044136 p.Val774Leu LB/B rs3803460 - RFX7 Q2KHR2 VAR_044137 p.Leu1353Pro LB/B rs33984059 - RFX7 Q2KHR2 VAR_088512 p.Pro1028Leu US - Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities (MRD71) [MIM:620330] RFX7 Q2KHR2 VAR_088513 p.Pro1028Ser US - Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities (MRD71) [MIM:620330] RFX7 Q2KHR2 VAR_088514 p.Ile1029Val US - Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities (MRD71) [MIM:620330] RFXANK O14593 VAR_009941 p.Leu195Pro LP/P rs751386365 Bare lymphocyte syndrome 2 (BLS2) [MIM:209920] RFXANK O14593 VAR_014472 p.Gln251Glu LB/B rs1802498 - RFXANK O14593 VAR_048311 p.Glu48Asp LB/B rs34282046 - RGL1 Q9NZL6 VAR_035823 p.Tyr174Ser US - A breast cancer sample RGL1 Q9NZL6 VAR_035824 p.Val699Met US - A breast cancer sample RGL2 O15211 VAR_051903 p.Pro598Leu LB/B rs34022110 - RGL2 O15211 VAR_051904 p.Gly705Glu LB/B rs35273540 - RGL3 Q3MIN7 VAR_035298 p.His162Pro LB/B rs167479 - RGL3 Q3MIN7 VAR_035299 p.Ala164Val LB/B rs160838 - RGL3 Q3MIN7 VAR_035300 p.Arg615Cys LB/B rs2291516 - RGL4 Q8IZJ4 VAR_016244 p.Gln24Arg LB/B rs738786 - RGL4 Q8IZJ4 VAR_016245 p.His241Tyr LB/B rs2070446 - RGL4 Q8IZJ4 VAR_016246 p.Met342Arg LB/B rs2070449 - RGL4 Q8IZJ4 VAR_016247 p.Val378Ala LB/B rs1007298 - RGL4 Q8IZJ4 VAR_051905 p.Arg37Cys LB/B rs17003394 - RGL4 Q8IZJ4 VAR_051906 p.Thr216Met LB/B rs17003397 - RGL4 Q8IZJ4 VAR_051907 p.Glu297Lys LB/B rs17003398 - RGL4 Q8IZJ4 VAR_051908 p.Asp358Val LB/B rs8137247 - RGMA Q96B86 VAR_060105 p.Ala431Val LB/B rs4778078 - RGMA Q96B86 VAR_062144 p.Glu415Asp LB/B rs4238485 - RGR P47804 VAR_017034 p.Ser66Arg LP/P rs104894187 Retinitis pigmentosa 44 (RP44) [MIM:613769] RGR P47804 VAR_017055 p.Val132Leu LB/B rs370808520 - RGR P47804 VAR_017056 p.His152Asn LB/B rs150808273 - RGR P47804 VAR_017057 p.Ser241Phe LB/B rs61730895 - RGR P47804 VAR_017058 p.Ala234Thr LB/B rs377043137 - RGS10 O43665 VAR_011896 p.Ala102Val LB/B rs1802228 - RGS11 O94810 VAR_024606 p.Met427Thr LB/B rs739999 - RGS11 O94810 VAR_061770 p.Val351Met LB/B rs9806942 - RGS12 O14924 VAR_020208 p.Asn1124Ser LB/B rs2269497 - RGS12 O14924 VAR_034451 p.Ile225Val LB/B rs7679941 - RGS12 O14924 VAR_034452 p.Met277Leu LB/B rs16844152 - RGS13 O14921 VAR_034453 p.Leu150Phe LB/B rs16834603 - RGS16 O15492 VAR_046528 p.His137Arg LB/B rs1144566 - RGS2 P41220 VAR_079238 p.Gln2Leu US rs141030117 - RGS2 P41220 VAR_079239 p.Gln2Arg LB/B rs141030117 - RGS2 P41220 VAR_079240 p.Ser3Gly LB/B rs145125159 - RGS2 P41220 VAR_079241 p.Ala4Val LB/B rs142499684 - RGS2 P41220 VAR_079242 p.Met5Val LB/B rs193051407 - RGS2 P41220 VAR_079243 p.Lys18Asn LB/B rs74466425 - RGS2 P41220 VAR_079244 p.Gly23Asp LB/B rs148489044 - RGS2 P41220 VAR_079245 p.Asp40Tyr LB/B rs201233692 - RGS2 P41220 VAR_079246 p.Arg44His US rs200339834 - RGS2 P41220 VAR_079247 p.Gln50Lys LB/B rs80221024 - RGS2 P41220 VAR_079248 p.Pro55Leu LB/B rs140811638 - RGS2 P41220 VAR_079249 p.Gln78His US - - RGS2 P41220 VAR_079250 p.Ala99Gly LB/B rs139237239 - RGS2 P41220 VAR_079251 p.Ile110Val LB/B rs146862218 - RGS2 P41220 VAR_079252 p.Arg188His LB/B rs369752935 - RGS2 P41220 VAR_079253 p.Gln196Arg LB/B rs112707798 - RGS22 Q8NE09 VAR_051797 p.Arg397Met LB/B rs2446927 - RGS22 Q8NE09 VAR_051798 p.His943Tyr LB/B rs3133711 - RGS3 P49796 VAR_051794 p.Arg129Lys LB/B rs16933949 - RGS3 P49796 VAR_061769 p.Arg809Gln LB/B rs41305473 - RGS4 P49798 VAR_051795 p.Ala195Ser LB/B rs14665 - RGS7 P49802 VAR_057153 p.Met137Leu LB/B rs12746550 - RGS7 P49802 VAR_060604 p.Gln409His LB/B rs17851953 - RGS7BP Q6MZT1 VAR_032334 p.Ile255Val LB/B rs889248 - RGS9 O75916 VAR_017912 p.Trp299Arg LP/P rs121908449 Prolonged electroretinal response suppression 1 (PERRS1) [MIM:608415] RGS9 O75916 VAR_051796 p.Ser258Leu LB/B rs12452285 - RGS9BP Q6ZS82 VAR_032333 p.Ala96Ser LB/B rs259290 - RGSL1 A5PLK6 VAR_046356 p.Glu5Asp LB/B rs12083859 - RGSL1 A5PLK6 VAR_046357 p.Trp256Cys LB/B rs647224 - RHAG Q02094 VAR_006921 p.Ser79Asn LP/P rs121918586 Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] RHAG Q02094 VAR_015855 p.Val270Ile LB/B rs16879498 - RHAG Q02094 VAR_015856 p.Gly279Glu LP/P rs121918587 Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] RHAG Q02094 VAR_015857 p.Gly280Arg LP/P rs104893987 Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] RHAG Q02094 VAR_015858 p.Gly380Val LP/P rs121918589 Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] RHAG Q02094 VAR_047999 p.Asn242Asp LB/B rs1058063 - RHAG Q02094 VAR_076283 p.Ile61Arg LP/P rs863225469 Overhydrated hereditary stomatocytosis (OHST) [MIM:185000] RHAG Q02094 VAR_076284 p.Phe65Ser LP/P rs863225468 Overhydrated hereditary stomatocytosis (OHST) [MIM:185000] RHAG Q02094 VAR_076285 p.Gln106Glu LB/B rs1180686517 - RHAG Q02094 VAR_076286 p.Lys164Gln LB/B rs144305805 - RHAG Q02094 VAR_076287 p.Ser227Leu LB/B rs902283342 - RHBDD1 Q8TEB9 VAR_034454 p.Ala110Thr LB/B rs35731955 - RHBDD2 Q6NTF9 VAR_051581 p.Arg85His LB/B rs11547498 - RHBDD3 Q9Y3P4 VAR_021952 p.Thr86Met LB/B rs2272902 - RHBDD3 Q9Y3P4 VAR_051582 p.His227Arg LB/B rs2231397 - RHBDF1 Q96CC6 VAR_044006 p.Arg265Trp LB/B rs3213511 - RHBDF2 Q6PJF5 VAR_044125 p.Pro208Leu LB/B rs3744045 - RHBDF2 Q6PJF5 VAR_044126 p.Ala249Thr LB/B rs34814954 - RHBDF2 Q6PJF5 VAR_044127 p.Asp528Tyr LB/B rs11553545 - RHBDF2 Q6PJF5 VAR_067827 p.Ile186Thr LP/P rs387907129 Tylosis with esophageal cancer (TOC) [MIM:148500] RHBDF2 Q6PJF5 VAR_067828 p.Pro189Leu LP/P rs387907130 Tylosis with esophageal cancer (TOC) [MIM:148500] RHBDL2 Q9NX52 VAR_020328 p.Leu273Met LB/B rs2147914 - RHBDL3 P58872 VAR_024593 p.Val255Met LB/B rs4795690 - RHBG Q9H310 VAR_031497 p.Gly76Asp LB/B rs2245623 - RHBG Q9H310 VAR_031498 p.Val143Asp LB/B rs11586833 - RHBG Q9H310 VAR_031499 p.Gly315Arg LB/B rs3748569 - RHBG Q9H310 VAR_053637 p.Cys339Arg LB/B rs3748567 - RHCE P18577 VAR_006911 p.Cys16Trp LB/B - - RHCE P18577 VAR_006912 p.Ala36Thr LB/B rs145034271 - RHCE P18577 VAR_006913 p.Gln41Arg LB/B rs138268848 - RHCE P18577 VAR_006914 p.Leu60Ile LB/B rs181860403 - RHCE P18577 VAR_006915 p.Asn68Ser LB/B rs1053344 - RHCE P18577 VAR_006916 p.Pro103Ser LB/B rs676785 - RHCE P18577 VAR_006917 p.Ala226Pro LB/B rs609320 - RHCE P18577 VAR_006918 p.Leu245Val LB/B rs1053361 - RHCE P18577 VAR_013301 p.Arg154Thr LB/B - - RHCE P18577 VAR_013302 p.Gln233Glu LB/B rs142246017 - RHCE P18577 VAR_013303 p.Met238Val LB/B rs144163296 - RHCE P18577 VAR_055260 p.Ala127Val LB/B rs1053346 - RHCE P18577 VAR_055261 p.Gly128Asp LB/B rs1053347 - RHCE P18577 VAR_055262 p.Thr182Ser LB/B rs1053350 - RHCE P18577 VAR_055263 p.Asn198Lys LB/B rs1053354 - RHCE P18577 VAR_055264 p.His323Pro LB/B rs1053366 - RHCE P18577 VAR_055265 p.Ile325Ser LB/B rs1053367 - RHCE P18577 VAR_055266 p.His329Asp LB/B rs1053370 - RHCE P18577 VAR_055267 p.His329Arg LB/B rs1053371 - RHCE P18577 VAR_055268 p.Ser330Tyr LB/B rs1053372 - RHCE P18577 VAR_055269 p.Ile331Asn LB/B rs1053373 - RHCE P18577 VAR_057987 p.Arg263Gly LB/B rs1132763 - RHCE P18577 VAR_057988 p.Met267Lys LB/B rs1132764 - RHCE P18577 VAR_057989 p.Val398Glu LB/B rs630612 - RHCG Q9UBD6 VAR_031496 p.Arg202Cys LB/B rs17807723 - RHD Q02161 VAR_006919 p.Leu110Pro LB/B rs121912762 - RHD Q02161 VAR_006920 p.Met218Ile LB/B rs141540728 - RHD Q02161 VAR_013304 p.Phe223Val LB/B rs1053356 - RHD Q02161 VAR_013305 p.Glu233Gln LB/B rs1053359 - RHD Q02161 VAR_013306 p.Val238Met LB/B rs1053360 - RHD Q02161 VAR_013307 p.Val245Leu LB/B rs150073306 - RHD Q02161 VAR_034455 p.Trp16Cys LB/B rs772865539 - RHD Q02161 VAR_034456 p.Glu193Lys LB/B rs1053352 - RHD Q02161 VAR_034457 p.Thr201Arg LB/B rs1053355 - RHD Q02161 VAR_035615 p.Ser103Cys US - A breast cancer sample RHD Q02161 VAR_047996 p.Gly263Arg LB/B rs3118454 - RHD Q02161 VAR_047997 p.Val306Ile LB/B rs590813 - RHD Q02161 VAR_047998 p.Tyr311Cys LB/B rs590787 - RHD Q02161 VAR_086023 p.Ser3Cys US - - RHD Q02161 VAR_086024 p.Arg10Gln US - - RHD Q02161 VAR_086025 p.Ala149Asp US - - RHD Q02161 VAR_086026 p.Ser182Thr US - - RHD Q02161 VAR_086027 p.Lys198Asn US - - RHD Q02161 VAR_086028 p.Trp220Arg US - - RHD Q02161 VAR_086029 p.Val270Gly US - - RHD Q02161 VAR_086030 p.Ala276Pro US - - RHD Q02161 VAR_086031 p.Gly277Glu US - - RHD Q02161 VAR_086032 p.Gly282Asp US - - RHD Q02161 VAR_086033 p.Thr283Ile US - - RHD Q02161 VAR_086034 p.Ala294Pro US - - RHD Q02161 VAR_086035 p.Met295Ile US - - RHD Q02161 VAR_086036 p.Gly307Arg US - - RHD Q02161 VAR_086037 p.Gly339Glu US - - RHD Q02161 VAR_086038 p.Gly385Ala US - - RHD Q02161 VAR_086039 p.Trp393Arg US - - RHEB Q15382 VAR_036310 p.Glu139Lys US - A colorectal cancer sample RHO P08100 VAR_004765 p.Thr4Lys LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004766 p.Asn15Ser LP/P rs104893786 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004767 p.Thr17Met LP/P rs104893769 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004768 p.Pro23His LP/P rs104893768 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004769 p.Pro23Leu LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004770 p.Gln28His LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004771 p.Leu40Arg LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004772 p.Met44Thr LP/P rs774336493 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004773 p.Phe45Leu LP/P rs104893770 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004774 p.Leu46Arg LP/P rs2084757073 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004775 p.Gly51Ala LB/B rs149079952 - RHO P08100 VAR_004776 p.Gly51Arg LP/P rs104893792 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004777 p.Gly51Val LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004778 p.Pro53Arg LP/P rs28933395 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004779 p.Thr58Arg LP/P rs28933394 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004781 p.Val87Asp LP/P rs104893771 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004782 p.Gly89Asp LP/P rs104893772 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004783 p.Gly90Asp LP/P rs104893790 Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) [MIM:610445] RHO P08100 VAR_004784 p.Thr94Ile LP/P rs104893796 Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) [MIM:610445] RHO P08100 VAR_004785 p.Val104Ile US rs144317206 - RHO P08100 VAR_004786 p.Gly106Arg LP/P rs104893773 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004787 p.Gly106Trp LP/P rs104893773 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004788 p.Gly109Arg LP/P rs1415160298 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004789 p.Cys110Phe LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004790 p.Cys110Tyr LP/P rs104893787 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004791 p.Gly114Asp LP/P rs104893788 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004792 p.Leu125Arg LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004793 p.Ser127Phe LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004794 p.Leu131Pro LP/P rs1553781140 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004795 p.Arg135Gly LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004796 p.Arg135Leu LP/P rs104893774 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004797 p.Arg135Trp LP/P rs104893775 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004798 p.Cys140Ser LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004799 p.Glu150Lys LP/P rs104893791 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004800 p.Ala164Glu LP/P rs104893793 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004801 p.Ala164Val LP/P rs104893793 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004802 p.Cys167Arg LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004803 p.Pro171Leu LP/P rs2084776162 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004804 p.Pro171Gln LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004805 p.Pro171Ser LP/P rs104893794 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004806 p.Tyr178Cys LP/P rs104893776 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004807 p.Tyr178Asn LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004808 p.Glu181Lys LP/P rs775557680 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004809 p.Gly182Ser LP/P rs104893780 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004810 p.Ser186Pro LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004811 p.Gly188Glu LP/P rs1424131846 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004812 p.Gly188Arg LP/P rs527236100 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004813 p.Asp190Asn LP/P rs104893779 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004814 p.Asp190Gly LP/P rs104893777 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004815 p.Asp190Tyr LP/P rs104893779 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004816 p.Met207Arg LP/P rs104893782 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004817 p.Val209Met US rs567288669 - RHO P08100 VAR_004818 p.His211Pro LP/P rs28933993 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004819 p.His211Arg LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004820 p.Met216Lys LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004821 p.Phe220Cys LP/P rs766161322 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004822 p.Cys222Arg LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004825 p.Pro267Leu LP/P rs104893781 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004826 p.Pro267Arg LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004827 p.Ala292Glu LP/P rs104893789 Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) [MIM:610445] RHO P08100 VAR_004828 p.Lys296Glu LP/P rs29001653 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004829 p.Ser297Arg LP/P rs142285818 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004830 p.Thr342Met LP/P rs183318466 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004831 p.Val345Leu LP/P rs104893795 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004832 p.Val345Met LP/P rs104893795 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004833 p.Pro347Ala LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004834 p.Pro347Leu LP/P rs29001566 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004835 p.Pro347Gln LP/P rs29001566 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004836 p.Pro347Arg LP/P rs29001566 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_004837 p.Pro347Ser LP/P rs29001637 Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_068359 p.Pro180Ser LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHO P08100 VAR_068360 p.Ile214Asn LP/P - Retinitis pigmentosa 4 (RP4) [MIM:613731] RHOA P61586 VAR_083545 p.Glu47Lys LP/P - Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies (EDFAOB) [MIM:618727] RHOA P61586 VAR_083546 p.Pro71Ser LP/P - Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies (EDFAOB) [MIM:618727] RHOBTB2 Q9BYZ6 VAR_079030 p.Asn488Asp LP/P rs1554504678 Developmental and epileptic encephalopathy 64 (DEE64) [MIM:618004] RHOBTB2 Q9BYZ6 VAR_080812 p.Ala452Gly LP/P rs1554504656 Developmental and epileptic encephalopathy 64 (DEE64) [MIM:618004] RHOBTB2 Q9BYZ6 VAR_080813 p.Arg461His LP/P rs1554504663 Developmental and epileptic encephalopathy 64 (DEE64) [MIM:618004] RHOBTB2 Q9BYZ6 VAR_080814 p.Arg485Cys LP/P rs1563292586 Developmental and epileptic encephalopathy 64 (DEE64) [MIM:618004] RHOBTB2 Q9BYZ6 VAR_080815 p.Arg489Gln LP/P rs1554504684 Developmental and epileptic encephalopathy 64 (DEE64) [MIM:618004] RHOBTB2 Q9BYZ6 VAR_080816 p.Arg489Trp LP/P rs1554504681 Developmental and epileptic encephalopathy 64 (DEE64) [MIM:618004] RHOBTB3 O94955 VAR_018481 p.Pro21Arg LB/B rs2302980 - RHOBTB3 O94955 VAR_018482 p.Asn262Asp LB/B rs34899 - RHOBTB3 O94955 VAR_030490 p.Arg20Gln LB/B rs17855649 - RHOC P08134 VAR_051974 p.Asp120His LB/B rs11538959 - RHOD O00212 VAR_058408 p.Arg134Cys LB/B rs4930409 - RHOG P84095 VAR_088337 p.Glu171Lys US - - RHOT2 Q8IXI1 VAR_026637 p.Arg245Gln LB/B rs1139897 - RHOT2 Q8IXI1 VAR_026638 p.Arg425Cys LB/B rs3177338 - RHOU Q7L0Q8 VAR_051975 p.Thr121Ala LB/B rs3820264 - RHOXF1 Q8NHV9 VAR_049587 p.Arg172His US rs2301977 - RHOXF1 Q8NHV9 VAR_077002 p.Asp177His LB/B rs138060880 - RHOXF2 Q9BQY4 VAR_078297 p.Gly68Arg US rs148604152 - RHOXF2 Q9BQY4 VAR_078298 p.Leu176Phe US rs199871532 - RHOXF2 Q9BQY4 VAR_078299 p.Gly227Arg US rs1210761967 - RHOXF2 Q9BQY4 VAR_078300 p.Asp235Gly US rs6646602 - RHOXF2B P0C7M4 VAR_078301 p.Gly68Arg US rs781837897 - RHOXF2B P0C7M4 VAR_078302 p.Leu176Phe US rs3764830 - RHOXF2B P0C7M4 VAR_078303 p.Gly227Arg US - - RHOXF2B P0C7M4 VAR_078304 p.Asp235Gly US rs782251394 - RHPN2 Q8IUC4 VAR_061996 p.Arg70Gln LB/B rs28626308 - RHPN2 Q8IUC4 VAR_061997 p.Ala342Pro LB/B rs28407794 - RIBC2 Q9H4K1 VAR_028812 p.Arg253Cys LB/B rs2142661 - RIBC2 Q9H4K1 VAR_028813 p.Phe268Leu LB/B rs1022478 - RIBC2 Q9H4K1 VAR_028814 p.Arg335Gln LB/B rs2072770 - RIC1 Q4ADV7 VAR_083541 p.Arg1265Pro LP/P rs763515150 CATIFA syndrome (CATIFA) [MIM:618761] RIC3 Q7Z5B4 VAR_034943 p.Pro57His LB/B rs17855498 - RIC3 Q7Z5B4 VAR_036391 p.Gly346Val US - A colorectal cancer sample RIC3 Q7Z5B4 VAR_062208 p.Cys130Tyr LB/B rs55990541 - RICTOR Q6R327 VAR_051320 p.Ser837Phe LB/B rs2043112 - RIF1 Q5UIP0 VAR_022788 p.Gly836Ser LB/B rs2444263 - RIF1 Q5UIP0 VAR_022789 p.Val1362Met LB/B rs2123465 - RIF1 Q5UIP0 VAR_022790 p.Arg1686Gly LB/B rs3732305 - RIF1 Q5UIP0 VAR_022791 p.Val1862Ile LB/B rs2444258 - RIF1 Q5UIP0 VAR_022792 p.Asn2021Tyr LB/B rs2444257 - RIF1 Q5UIP0 VAR_022793 p.Met2165Arg LB/B rs16830057 - RIF1 Q5UIP0 VAR_022794 p.Leu2418Val LB/B rs1065177 - RIF1 Q5UIP0 VAR_035983 p.Glu1784Lys US - A breast cancer sample RIF1 Q5UIP0 VAR_035984 p.Asp1955His US - A breast cancer sample RIGI O95786 VAR_023747 p.Arg7Cys LB/B rs10813831 - RIGI O95786 VAR_023748 p.Asp580Glu LB/B rs17217280 - RIGI O95786 VAR_073667 p.Cys268Phe LP/P rs786204848 Singleton-Merten syndrome 2 (SGMRT2) [MIM:616298] RIGI O95786 VAR_073668 p.Glu373Ala LP/P rs786204847 Singleton-Merten syndrome 2 (SGMRT2) [MIM:616298] RILP Q96NA2 VAR_034417 p.Arg281Gln LB/B rs34982553 - RILP Q96NA2 VAR_051321 p.Ala81Thr LB/B rs9909321 - RIMBP2 O15034 VAR_057714 p.Pro593Arg LB/B rs2292664 - RIMBP2 O15034 VAR_057715 p.Asp888Asn LB/B rs11060869 - RIMBP3 Q9UFD9 VAR_028969 p.Arg1513Cys LB/B rs374395444 - RIMOC1 A6NDU8 VAR_044032 p.Gln20His LB/B rs12520325 - RIMS1 Q86UR5 VAR_016804 p.Arg820His US rs121918302 - RIN2 Q8WYP3 VAR_024694 p.Ser197Thr LB/B rs3803981 - RIN2 Q8WYP3 VAR_052945 p.Ala643Thr LB/B rs199603 - RIN3 Q8TB24 VAR_046645 p.Glu111Lys LB/B rs2274542 - RIN3 Q8TB24 VAR_046646 p.His215Pro LB/B rs3829947 - RIN3 Q8TB24 VAR_046647 p.Thr425Met LB/B rs3742717 - RIN3 Q8TB24 VAR_046648 p.Gly613Ala LB/B rs12434929 - RIN3 Q8TB24 VAR_052946 p.Thr425Ile LB/B rs3742717 - RIN3 Q8TB24 VAR_059960 p.His215Leu LB/B rs3829947 - RIN3 Q8TB24 VAR_059961 p.His215Arg LB/B rs3829947 - RING1 Q06587 VAR_076618 p.Arg95Gln LB/B rs1204881780 - RINL Q6ZS11 VAR_038926 p.Pro402Leu LB/B rs8110393 - RINT1 Q6NUQ1 VAR_034418 p.Phe668Ser LB/B rs35971380 - RINT1 Q6NUQ1 VAR_034419 p.Pro759Leu LB/B rs34310648 - RINT1 Q6NUQ1 VAR_051322 p.Ser40Cys LB/B rs11556986 - RINT1 Q6NUQ1 VAR_083238 p.Ala368Thr LP/P rs545894353 Infantile liver failure syndrome 3 (ILFS3) [MIM:618641] RINT1 Q6NUQ1 VAR_083239 p.Leu370Pro LP/P rs1562849964 Infantile liver failure syndrome 3 (ILFS3) [MIM:618641] RIOK1 Q9BRS2 VAR_061777 p.Val375Ile LB/B rs56067778 - RIOK2 Q9BVS4 VAR_031597 p.His144Tyr LB/B rs17849382 - RIOK2 Q9BVS4 VAR_031598 p.Gly349Arg LB/B rs160632 - RIOK2 Q9BVS4 VAR_031599 p.Asn397Ser LB/B rs12188395 - RIOK2 Q9BVS4 VAR_042347 p.Ser96Cys LB/B rs2544773 - RIOK2 Q9BVS4 VAR_042348 p.His144Arg LB/B rs35165987 - RIOK2 Q9BVS4 VAR_042349 p.Arg155His LB/B rs34916955 - RIOK2 Q9BVS4 VAR_042350 p.Val175Ile LB/B rs35713904 - RIOK2 Q9BVS4 VAR_042351 p.Ile216Thr US rs147608663 A renal clear cell carcinoma sample RIOK2 Q9BVS4 VAR_042352 p.Met244Val LB/B rs33996030 - RIOK2 Q9BVS4 VAR_042353 p.Glu409Asp LB/B rs35829000 - RIOK2 Q9BVS4 VAR_042354 p.Arg507His LB/B rs34555783 - RIOK3 O14730 VAR_042355 p.Leu336Val LB/B rs35401850 - RIOK3 O14730 VAR_042356 p.Arg441Gln LB/B rs33969048 - RIOK3 O14730 VAR_042357 p.Ser447Leu LB/B rs56282762 - RIOX1 Q9H6W3 VAR_057819 p.Phe218Ser LB/B rs758109 - RIOX1 Q9H6W3 VAR_060191 p.Gln239His LB/B rs34970526 - RIOX1 Q9H6W3 VAR_062422 p.Lys17Arg LB/B rs10144469 - RIOX1 Q9H6W3 VAR_062423 p.Val364Ala LB/B rs3813563 - RIOX2 Q8IUF8 VAR_036811 p.Ala386Thr LB/B rs2172257 - RIOX2 Q8IUF8 VAR_054079 p.Ala17Pro LB/B rs35391656 - RIOX2 Q8IUF8 VAR_062241 p.Pro201Leu LB/B rs56183666 - RIPK1 Q13546 VAR_021109 p.Glu234Lys LB/B rs17548383 - RIPK1 Q13546 VAR_041039 p.Ala64Val US rs774996232 A colorectal adenocarcinoma sample RIPK1 Q13546 VAR_041040 p.Val81Ile US rs758268804 A colorectal adenocarcinoma sample RIPK1 Q13546 VAR_041041 p.Ala220Val US rs759012409 A colorectal adenocarcinoma sample RIPK1 Q13546 VAR_041042 p.Ala404Ser LB/B rs34872409 - RIPK1 Q13546 VAR_041043 p.Ala443Val LB/B rs35722193 - RIPK1 Q13546 VAR_041044 p.Ala569Val LB/B rs55861377 - RIPK1 Q13546 VAR_058285 p.Ala438Val LB/B rs3173519 - RIPK1 Q13546 VAR_083518 p.Asp324His LP/P - Autoinflammation with episodic fever and lymphadenopathy (AIEFL) [MIM:618852] RIPK1 Q13546 VAR_083519 p.Asp324Asn LP/P rs1760720617 Autoinflammation with episodic fever and lymphadenopathy (AIEFL) [MIM:618852] RIPK1 Q13546 VAR_083520 p.Asp324Tyr LP/P - Autoinflammation with episodic fever and lymphadenopathy (AIEFL) [MIM:618852] RIPK1 Q13546 VAR_084135 p.Asp324Val LP/P rs1760720924 Autoinflammation with episodic fever and lymphadenopathy (AIEFL) [MIM:618852] RIPK2 O43353 VAR_041045 p.Ile259Thr LB/B rs2230801 - RIPK2 O43353 VAR_041046 p.Leu268Val LB/B rs35004667 - RIPK2 O43353 VAR_041047 p.Lys313Asn LB/B rs35395048 - RIPK3 Q9Y572 VAR_041048 p.Thr300Met LB/B rs34106261 - RIPK3 Q9Y572 VAR_041049 p.Pro492Gln LB/B rs3212254 - RIPK3 Q9Y572 VAR_051664 p.Glu260Val LB/B rs7153640 - RIPK4 P57078 VAR_030160 p.Ala12Gly LB/B rs6586239 - RIPK4 P57078 VAR_030161 p.Ser177Asn LB/B rs12482626 - RIPK4 P57078 VAR_041050 p.Ile462Asn LB/B rs55809511 - RIPK4 P57078 VAR_041051 p.Val463Met LB/B rs55645753 - RIPK4 P57078 VAR_041052 p.Asn562Tyr LB/B rs55829311 - RIPK4 P57078 VAR_041053 p.Arg669His LB/B rs56056485 - RIPK4 P57078 VAR_041054 p.Pro749Ser LB/B rs35537517 - RIPK4 P57078 VAR_067331 p.Ile81Asn LP/P rs387906922 Bartsocas-Papas syndrome (BPS) [MIM:263650] RIPK4 P57078 VAR_067332 p.Ile121Asn LP/P rs387906923 Bartsocas-Papas syndrome (BPS) [MIM:263650] RIPK4 P57078 VAR_067333 p.Thr184Ile LP/P - Bartsocas-Papas syndrome (BPS) [MIM:263650] RIPK4 P57078 VAR_081473 p.Gly163Asp US rs764278537 CHAND syndrome (CHANDS) [MIM:214350] RIPK4 P57078 VAR_081474 p.Glu284Lys US - CHAND syndrome (CHANDS) [MIM:214350] RIPK4 P57078 VAR_085697 p.Pro189Leu US - Bartsocas-Papas syndrome (BPS) [MIM:263650] RIPK4 P57078 VAR_085698 p.Ala496Pro US - Bartsocas-Papas syndrome (BPS) [MIM:263650] RIPK4 P57078 VAR_085699 p.Arg666His US rs763794698 Bartsocas-Papas syndrome (BPS) [MIM:263650] RIPOR2 Q9Y4F9 VAR_032572 p.Ala145Gly LB/B rs11967003 - RIPOR2 Q9Y4F9 VAR_032573 p.Val320Met LB/B rs35331811 - RIPOR2 Q9Y4F9 VAR_032574 p.Glu424Lys LB/B rs34016544 - RIPOR2 Q9Y4F9 VAR_032575 p.Ser452Cys LB/B rs34298086 - RIPOR2 Q9Y4F9 VAR_032576 p.Glu495Lys LB/B rs35514577 - RIPOR2 Q9Y4F9 VAR_032577 p.Arg520Cys LB/B rs35780910 - RIPOR2 Q9Y4F9 VAR_062193 p.Arg868Gln LB/B rs9461073 - RIPOR3 Q96MK2 VAR_053914 p.Leu580Pro LB/B rs6020624 - RIPOR3 Q96MK2 VAR_062194 p.Cys566Ser LB/B rs35965508 - RIT1 Q92963 VAR_070149 p.Ser35Thr LB/B rs869025189 - RIT1 Q92963 VAR_070150 p.Ala57Gly LP/P rs672601334 Noonan syndrome 8 (NS8) [MIM:615355] RIT1 Q92963 VAR_070151 p.Glu81Gly LP/P rs869025193 Noonan syndrome 8 (NS8) [MIM:615355] RIT1 Q92963 VAR_070152 p.Phe82Leu LP/P rs730881014 Noonan syndrome 8 (NS8) [MIM:615355] RIT1 Q92963 VAR_070153 p.Phe82Val LB/B rs869025194 - RIT1 Q92963 VAR_070154 p.Thr83Pro LB/B rs869025195 - RIT1 Q92963 VAR_070155 p.Tyr89His LB/B rs869025197 - RIT1 Q92963 VAR_070156 p.Met90Ile LP/P rs483352822 Noonan syndrome 8 (NS8) [MIM:615355] RIT1 Q92963 VAR_070157 p.Gly95Ala LP/P rs672601335 Noonan syndrome 8 (NS8) [MIM:615355] RITA1 Q96K30 VAR_033175 p.Thr220Lys LB/B rs34831139 - RITA1 Q96K30 VAR_050865 p.Ser113Trp LB/B rs16942601 - RLBP1 P12271 VAR_005140 p.Arg151Gln LP/P rs137853290 Retinitis punctata albescens (RPA) [MIM:136880] RLBP1 P12271 VAR_015172 p.Arg234Trp LP/P rs28933990 Bothnia retinal dystrophy (BRD) [MIM:607475] RLBP1 P12271 VAR_037317 p.Met226Lys LP/P rs137853291 Retinitis punctata albescens (RPA) [MIM:136880] RLF Q13129 VAR_052739 p.Arg668Lys LB/B rs35189918 - RLF Q13129 VAR_052740 p.Val932Ala LB/B rs35563960 - RLF Q13129 VAR_052741 p.Gly957Asp LB/B rs35042446 - RLF Q13129 VAR_052742 p.Glu1784Asp LB/B rs10889205 - RLF Q13129 VAR_061929 p.Pro1629Leu LB/B rs34123123 - RLF Q13129 VAR_061930 p.Gln1685Glu LB/B rs34141181 - RLIG1 Q8N999 VAR_035197 p.Pro23Leu LB/B rs11541954 - RLIG1 Q8N999 VAR_035198 p.Val238Leu LB/B rs9262 - RLIM Q9NVW2 VAR_074175 p.His590Pro LB/B - - RLIM Q9NVW2 VAR_077826 p.Tyr356Cys LP/P rs786205133 Tonne-Kalscheuer syndrome (TOKAS) [MIM:300978] RLIM Q9NVW2 VAR_077827 p.Arg387Cys LP/P - Tonne-Kalscheuer syndrome (TOKAS) [MIM:300978] RLIM Q9NVW2 VAR_077828 p.Pro587Arg LP/P - Tonne-Kalscheuer syndrome (TOKAS) [MIM:300978] RLIM Q9NVW2 VAR_077829 p.Arg599Cys LP/P - Tonne-Kalscheuer syndrome (TOKAS) [MIM:300978] RLN1 P04808 VAR_011962 p.Lys28Met LB/B rs397780021 - RLN2 P04090 VAR_034444 p.Met28Lys LB/B rs618066 - RLN2 P04090 VAR_050007 p.Val12Phe LB/B rs2020050 - RMDN1 Q96DB5 VAR_049028 p.Lys52Asn LB/B rs6980476 - RMDN2 Q96LZ7 VAR_032316 p.Gly259Asp LB/B rs4670800 - RMDN3 Q96TC7 VAR_049029 p.Gln33His LB/B rs11558807 - RMI1 Q9H9A7 VAR_025556 p.Tyr100His LB/B rs17855932 - RMI1 Q9H9A7 VAR_025557 p.Asn455Ser LB/B rs1982151 - RMND1 Q9NWS8 VAR_025754 p.Thr132Met LB/B rs3734800 - RMND1 Q9NWS8 VAR_051864 p.Ser42Ile LB/B rs11550103 - RMND1 Q9NWS8 VAR_051865 p.Arg47His LB/B rs6934360 - RMND1 Q9NWS8 VAR_069036 p.Arg417Gln LP/P rs397515421 Combined oxidative phosphorylation deficiency 11 (COXPD11) [MIM:614922] RNASE10 Q5GAN6 VAR_052198 p.Ser131Asn LB/B rs2067648 - RNASE11 Q8TAA1 VAR_052195 p.Pro5Ser LB/B rs17113756 - RNASE11 Q8TAA1 VAR_052196 p.Thr74Ser LB/B rs35818240 - RNASE13 Q5GAN3 VAR_036874 p.Ser139Ala LB/B rs2277847 - RNASE2 P10153 VAR_013150 p.His156Asn LB/B rs146887874 - RNASE2 P10153 VAR_059820 p.His100Gln LB/B rs8012891 - RNASE3 P12724 VAR_013149 p.Thr124Arg LB/B rs2073342 - RNASE3 P12724 VAR_014109 p.Arg72Cys LB/B rs151169198 - RNASE3 P12724 VAR_029017 p.Gly130Arg LB/B rs12147890 - RNASE4 P34096 VAR_024618 p.Thr16Ser LB/B rs3748338 - RNASE6 Q93091 VAR_012048 p.Arg89Gln LB/B rs1045922 - RNASE7 Q9H1E1 VAR_024619 p.Ala103Pro LB/B rs1263872 - RNASE7 Q9H1E1 VAR_024620 p.His116Tyr LB/B rs1243469 - RNASE8 Q8TDE3 VAR_052194 p.Pro10Ser LB/B rs12437266 - RNASE9 P60153 VAR_034473 p.Ser204Pro LB/B rs1243647 - RNASE9 P60153 VAR_052197 p.Phe148Ser LB/B rs12590446 - RNASEH1 O60930 VAR_023469 p.Leu4Phe LB/B rs1136545 - RNASEH1 O60930 VAR_074561 p.Val142Ile LP/P rs766294940 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 (PEOB2) [MIM:616479] RNASEH1 O60930 VAR_074562 p.Ala185Val LP/P rs1057517675 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 (PEOB2) [MIM:616479] RNASEH2A O75792 VAR_024617 p.Leu202Ser LB/B rs7247284 - RNASEH2A O75792 VAR_027377 p.Gly37Ser LP/P rs76857106 Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333] RNASEH2A O75792 VAR_027378 p.Ala258Gly LB/B rs15389 - RNASEH2A O75792 VAR_070624 p.Asn99Asp LB/B - - RNASEH2A O75792 VAR_070625 p.Arg108Trp LP/P rs76436818 Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333] RNASEH2A O75792 VAR_070626 p.Arg186Trp LP/P rs77103971 Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333] RNASEH2A O75792 VAR_070627 p.Asp205Glu LB/B rs62619782 - RNASEH2A O75792 VAR_070628 p.Phe230Leu LP/P rs79767407 Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333] RNASEH2A O75792 VAR_070629 p.Arg235Gln LP/P rs75718910 Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333] RNASEH2A O75792 VAR_070630 p.Thr240Met LP/P rs79843600 Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333] RNASEH2A O75792 VAR_070631 p.Glu260Gly LB/B rs770898096 - RNASEH2A O75792 VAR_070632 p.Arg291His LP/P rs75037667 Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333] RNASEH2B Q5TBB1 VAR_027280 p.Leu60Arg LP/P rs75325951 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_027281 p.His86Arg LP/P rs77931005 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_027282 p.Lys162Thr LP/P rs75971463 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_027283 p.Thr163Ile LP/P rs79310911 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_027284 p.Ala177Thr LP/P rs75184679 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_027285 p.Val185Gly LP/P rs74555752 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_027286 p.Tyr219His LP/P rs77391331 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_070611 p.Pro43His LP/P rs79564863 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_070612 p.Trp73Leu LP/P rs78071087 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_070613 p.Gly83Ser LP/P rs76158094 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_070614 p.Leu138Phe LP/P rs78705382 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_070615 p.Ser159Ile LP/P rs76219783 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_070616 p.Val183Met LP/P rs77377571 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_070617 p.Ser229Pro LP/P rs768565639 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2C Q8TDP1 VAR_027287 p.Arg69Trp LP/P rs78635798 Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329] RNASEH2C Q8TDP1 VAR_027288 p.Lys143Ile LP/P rs75146158 Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329] RNASEH2C Q8TDP1 VAR_070618 p.Arg13His LP/P rs75328625 Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329] RNASEH2C Q8TDP1 VAR_070619 p.Asp39Tyr LP/P rs773527127 Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329] RNASEH2C Q8TDP1 VAR_070620 p.Pro76Leu LP/P rs76091978 Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329] RNASEH2C Q8TDP1 VAR_070621 p.Pro138Leu LP/P - Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329] RNASEH2C Q8TDP1 VAR_070622 p.Pro151Ser LP/P rs78464826 Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329] RNASEL Q05823 VAR_012056 p.Arg462Gln LB/B rs486907 - RNASEL Q05823 VAR_012057 p.Asp541Glu LB/B rs627928 - RNASEL Q05823 VAR_013509 p.Gly59Ser LB/B rs151296858 - RNASEL Q05823 VAR_013510 p.Ser406Phe LB/B rs145787003 - RNASEL Q05823 VAR_042358 p.Ile97Leu LB/B rs56250729 - RNASEL Q05823 VAR_042359 p.Ala289Thr LB/B rs35553278 - RNASEL Q05823 VAR_042360 p.Arg592His LB/B rs35896902 - RNASET2 O00584 VAR_013004 p.Arg236Trp LB/B rs11159 - RNASET2 O00584 VAR_063596 p.Cys184Arg LP/P rs121918137 Leukoencephalopathy, cystic, without megalencephaly (LCWM) [MIM:612951] RND1 Q92730 VAR_020188 p.Pro44Arg LB/B rs2270577 - RNF10 Q8N5U6 VAR_028967 p.Leu332Phe LB/B rs17852961 - RNF10 Q8N5U6 VAR_028968 p.Glu433Asp LB/B rs16950277 - RNF11 Q9Y3C5 VAR_058272 p.Asp11Glu LB/B rs12077069 - RNF111 Q6ZNA4 VAR_031185 p.Asn9Lys LB/B rs2899642 - RNF111 Q6ZNA4 VAR_057216 p.Ala718Thr LB/B rs34086812 - RNF113B Q8IZP6 VAR_052104 p.Val92Met LB/B rs16955011 - RNF115 Q9Y4L5 VAR_052105 p.Gly194Arg LB/B rs11577731 - RNF123 Q5XPI4 VAR_027561 p.Pro51Arg LB/B rs2960546 - RNF123 Q5XPI4 VAR_052106 p.Arg387Gln LB/B rs35620248 - RNF123 Q5XPI4 VAR_052107 p.Lys596Glu LB/B rs35726701 - RNF123 Q5XPI4 VAR_052108 p.Arg854His LB/B rs34823813 - RNF125 Q96EQ8 VAR_073353 p.Met112Ile LP/P rs786201014 Tenorio syndrome (TNORS) [MIM:616260] RNF125 Q96EQ8 VAR_073354 p.Ser163Leu LP/P rs373764886 Tenorio syndrome (TNORS) [MIM:616260] RNF125 Q96EQ8 VAR_073355 p.Arg174Cys LP/P rs370242930 Tenorio syndrome (TNORS) [MIM:616260] RNF126 Q9BV68 VAR_057217 p.Val68Met LB/B rs2285751 - RNF13 O43567 VAR_082117 p.Leu311Ser LP/P - Developmental and epileptic encephalopathy 73 (DEE73) [MIM:618379] RNF13 O43567 VAR_082118 p.Leu312Pro LP/P - Developmental and epileptic encephalopathy 73 (DEE73) [MIM:618379] RNF13 O43567 VAR_086368 p.Ala114Pro US - - RNF13 O43567 VAR_086369 p.Cys243Tyr US - - RNF135 Q8IUD6 VAR_031165 p.His71Gln LB/B rs7225888 - RNF135 Q8IUD6 VAR_031166 p.Ser108Pro LB/B rs7211440 - RNF135 Q8IUD6 VAR_037652 p.Arg286His US rs121918162 - RNF135 Q8IUD6 VAR_063495 p.Arg115Lys LB/B rs111902263 - RNF135 Q8IUD6 VAR_063496 p.Trp415Cys LB/B rs61749868 - RNF138 Q8WVD3 VAR_052109 p.Lys81Arg LB/B rs7229690 - RNF144A P50876 VAR_035375 p.Thr4Ala LB/B rs364891 - RNF146 Q9NTX7 VAR_065249 p.Cys25Arg LB/B rs10081141 - RNF148 Q8N7C7 VAR_028855 p.Phe221Leu LB/B rs7790381 - RNF149 Q8NC42 VAR_029455 p.Ser9Gly LB/B rs11123868 - RNF149 Q8NC42 VAR_029456 p.Leu344Phe LB/B rs17856945 - RNF149 Q8NC42 VAR_029457 p.Asp356Glu LB/B rs13151 - RNF149 Q8NC42 VAR_035958 p.Glu7Lys US rs763258401 A breast cancer sample RNF157 Q96PX1 VAR_029458 p.Pro80His LB/B rs2289602 - RNF157 Q96PX1 VAR_029459 p.Gly208Arg LB/B rs11539879 - RNF157 Q96PX1 VAR_061817 p.Glu596Val LB/B rs59053255 - RNF167 Q9H6Y7 VAR_026996 p.Asn121Lys LB/B rs1127356 - RNF167 Q9H6Y7 VAR_086371 p.Lys97Asn US - - RNF167 Q9H6Y7 VAR_086372 p.Val98Gly US - - RNF167 Q9H6Y7 VAR_086373 p.Cys268Arg US - - RNF168 Q8IYW5 VAR_026997 p.Pro401Gln LB/B rs3796129 - RNF168 Q8IYW5 VAR_034466 p.Lys387Arg LB/B rs35774921 - RNF168 Q8IYW5 VAR_052110 p.Glu413Lys LB/B rs6790173 - RNF17 Q9BXT8 VAR_024613 p.Lys346Asn LB/B rs1451568 - RNF17 Q9BXT8 VAR_028132 p.Gly467Ser LB/B rs9581180 - RNF17 Q9BXT8 VAR_028133 p.Ser501Gly LB/B rs9507413 - RNF17 Q9BXT8 VAR_052098 p.Ala573Pro LB/B rs10161760 - RNF17 Q9BXT8 VAR_052099 p.His667Arg LB/B rs9511451 - RNF17 Q9BXT8 VAR_052100 p.Asn1110Lys LB/B rs3783082 - RNF17 Q9BXT8 VAR_052101 p.Glu1380Lys LB/B rs9507425 - RNF170 Q96K19 VAR_068219 p.Arg199Cys LP/P rs397514478 Ataxia, sensory, 1, autosomal dominant (SNAX1) [MIM:608984] RNF170 Q96K19 VAR_086712 p.Cys102Arg LP/P - Spastic paraplegia 85, autosomal recessive (SPG85) [MIM:619686] RNF170 Q96K19 VAR_086713 p.Cys107Trp LP/P - Spastic paraplegia 85, autosomal recessive (SPG85) [MIM:619686] RNF175 Q8N4F7 VAR_026998 p.Met159Val LB/B rs10517577 - RNF175 Q8N4F7 VAR_026999 p.Leu307Phe LB/B rs1337 - RNF175 Q8N4F7 VAR_027000 p.Ile315Met LB/B rs1339 - RNF175 Q8N4F7 VAR_027001 p.Ile322Asn LB/B rs2405432 - RNF181 Q9P0P0 VAR_033323 p.Tyr118His LB/B rs6643 - RNF182 Q8N6D2 VAR_035959 p.Val43Ala US - A colorectal cancer sample RNF182 Q8N6D2 VAR_035960 p.Pro58Leu US - A colorectal cancer sample RNF183 Q96D59 VAR_027095 p.Ala82Thr LB/B rs3750533 - RNF183 Q96D59 VAR_027096 p.Gln114Arg LB/B rs3750534 - RNF186 Q9NXI6 VAR_029460 p.Ala23Thr LB/B rs1541185 - RNF186 Q9NXI6 VAR_052111 p.Pro208Thr LB/B rs35541730 - RNF19A Q9NV58 VAR_028045 p.Gln835His LB/B rs9642785 - RNF2 Q99496 VAR_086207 p.Arg70His LP/P rs1651767648 Luo-Schoch-Yamamoto syndrome (LUSYAM) [MIM:619460] RNF2 Q99496 VAR_086208 p.Ser82Arg US - Luo-Schoch-Yamamoto syndrome (LUSYAM) [MIM:619460] RNF207 Q6ZRF8 VAR_052112 p.Ala421Thr LB/B rs12073329 - RNF207 Q6ZRF8 VAR_052113 p.Asn573Ser LB/B rs709209 - RNF207 Q6ZRF8 VAR_052114 p.Gly603Ala LB/B rs846111 - RNF207 Q6ZRF8 VAR_061818 p.Arg539Cys LB/B rs55823245 - RNF212 Q495C1 VAR_059815 p.Val263Ile LB/B rs17728127 - RNF213 Q63HN8 VAR_067020 p.Asp2554Glu LB/B rs138516230 - RNF213 Q63HN8 VAR_067021 p.Met3891Val US - - RNF213 Q63HN8 VAR_067022 p.Glu3915Gly LB/B rs61740658 - RNF213 Q63HN8 VAR_067023 p.Asn3962Asp US - - RNF213 Q63HN8 VAR_067024 p.Asp4013Asn LP/P - Moyamoya disease 2 (MYMY2) [MIM:607151] RNF213 Q63HN8 VAR_067025 p.Arg4062Gln US - - RNF213 Q63HN8 VAR_067026 p.Ala4399Thr LP/P rs148731719 Moyamoya disease 2 (MYMY2) [MIM:607151] RNF213 Q63HN8 VAR_067027 p.Val4567Met LB/B rs145282452 - RNF213 Q63HN8 VAR_067028 p.Pro4608Ser US - - RNF213 Q63HN8 VAR_067029 p.Val4765Met US - - RNF213 Q63HN8 VAR_067030 p.Arg4810Lys LP/P - Moyamoya disease 2 (MYMY2) [MIM:607151] RNF213 Q63HN8 VAR_067031 p.Asp4863Asn US - - RNF213 Q63HN8 VAR_067032 p.Glu4950Asp US - - RNF213 Q63HN8 VAR_067033 p.Ala5021Val LB/B rs138130613 - RNF213 Q63HN8 VAR_067034 p.Asp5160Glu US - - RNF213 Q63HN8 VAR_067035 p.Glu5176Gly US - - RNF213 Q63HN8 VAR_075636 p.Ala1622Val US - - RNF213 Q63HN8 VAR_075637 p.Arg3922Gln US - - RNF213 Q63HN8 VAR_075638 p.Val3933Met US - - RNF213 Q63HN8 VAR_075639 p.Cys3997Tyr US - - RNF213 Q63HN8 VAR_075640 p.Pro4007Arg US - - RNF213 Q63HN8 VAR_075641 p.Arg4019Cys US - - RNF213 Q63HN8 VAR_075642 p.Ile4076Val US - - RNF213 Q63HN8 VAR_075644 p.Ser4118Phe US - - RNF213 Q63HN8 VAR_075645 p.Arg4131Cys US - - RNF213 Q63HN8 VAR_075646 p.Lys4185Thr US - - RNF213 Q63HN8 VAR_075647 p.Asp4237Glu US - - RNF213 Q63HN8 VAR_075648 p.Gln4367Leu US - - RNF213 Q63HN8 VAR_075649 p.Thr4586Pro US - - RNF213 Q63HN8 VAR_075650 p.Leu4631Val US - - RNF213 Q63HN8 VAR_075651 p.Lys4732Thr US - - RNF213 Q63HN8 VAR_075652 p.Met5136Ile US - - RNF213 Q63HN8 VAR_075653 p.Val5163Ile US - - RNF213 Q63HN8 VAR_079573 p.Glu4042Lys US - - RNF213 Q63HN8 VAR_079574 p.Val4146Ala US - - RNF213 Q63HN8 VAR_079575 p.Trp4677Leu US - - RNF213 Q63HN8 VAR_085287 p.Cys118Arg US - - RNF213 Q63HN8 VAR_085288 p.Leu133Met US - - RNF213 Q63HN8 VAR_085289 p.Ile209Asn US - - RNF213 Q63HN8 VAR_085290 p.Pro395Leu US - - RNF213 Q63HN8 VAR_085291 p.Glu996Lys US - - RNF213 Q63HN8 VAR_085292 p.Ala1135Val US - - RNF213 Q63HN8 VAR_085293 p.Thr1705Lys US - - RNF213 Q63HN8 VAR_085294 p.Pro1721Leu US - - RNF213 Q63HN8 VAR_085295 p.Ala1844Thr US - - RNF213 Q63HN8 VAR_085296 p.Arg3846His US - - RNF213 Q63HN8 VAR_085297 p.Ala3927Thr US - - RNF213 Q63HN8 VAR_085299 p.His4014Asn US - - RNF213 Q63HN8 VAR_085300 p.Cys4017Ser US - - RNF213 Q63HN8 VAR_085301 p.Trp4024Arg US - - RNF213 Q63HN8 VAR_085302 p.Cys4032Arg US - - RNF213 Q63HN8 VAR_085303 p.Pro4033Leu US - - RNF213 Q63HN8 VAR_085304 p.His4051Pro US - - RNF213 Q63HN8 VAR_085305 p.His4058Pro US - - RNF213 Q63HN8 VAR_085306 p.Thr4114Arg US - - RNF213 Q63HN8 VAR_085307 p.Phe4120Leu US - - RNF213 Q63HN8 VAR_085308 p.Asp4122Val US - - RNF213 Q63HN8 VAR_085309 p.Lys4185Glu US - - RNF213 Q63HN8 VAR_085310 p.Ala4188Thr US - - RNF213 Q63HN8 VAR_085311 p.Thr4638Ile US - - RNF213 Q63HN8 VAR_085312 p.Gly4640Ser US - - RNF215 Q9Y6U7 VAR_032319 p.Ala322Thr LB/B rs5749088 - RNF216 Q9NWF9 VAR_070048 p.Arg660Cys LP/P rs1335215379 Gordon Holmes syndrome (GDHS) [MIM:212840] RNF216 Q9NWF9 VAR_070049 p.Arg694Cys LP/P rs387907368 Gordon Holmes syndrome (GDHS) [MIM:212840] RNF217 Q8TC41 VAR_024160 p.Val381Ile LB/B rs475076 - RNF220 Q5VTB9 VAR_086785 p.Arg363Gln LP/P - Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy (HLD23) [MIM:619688] RNF220 Q5VTB9 VAR_086786 p.Arg365Gln LP/P - Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy (HLD23) [MIM:619688] RNF31 Q96EP0 VAR_052102 p.Val1061Ile LB/B rs2277484 - RNF32 Q9H0A6 VAR_026982 p.Arg288Gln LB/B rs2302148 - RNF32 Q9H0A6 VAR_026983 p.His291Gln LB/B rs2302147 - RNF32 Q9H0A6 VAR_026984 p.Arg307Cys LB/B rs2302146 - RNF38 Q9H0F5 VAR_055400 p.Ala206Thr LB/B rs183475137 - RNF39 Q9H2S5 VAR_022723 p.Ser203Pro LB/B rs2074479 - RNF39 Q9H2S5 VAR_022724 p.Ala245Thr LB/B rs2301752 - RNF39 Q9H2S5 VAR_022725 p.Asp268Asn LB/B rs1057539 - RNF39 Q9H2S5 VAR_022726 p.Ala304Glu LB/B rs2301753 - RNF40 O75150 VAR_055021 p.Arg463His LB/B rs11556801 - RNF40 O75150 VAR_055022 p.Arg615Gln LB/B rs7195142 - RNF43 Q68DV7 VAR_030713 p.Ile47Val LB/B rs3744093 - RNF43 Q68DV7 VAR_030714 p.Arg117His LB/B rs2257205 - RNF43 Q68DV7 VAR_030715 p.Arg221Gln LB/B rs2285990 - RNF43 Q68DV7 VAR_030716 p.Pro231Leu LB/B rs2680701 - RNF43 Q68DV7 VAR_030717 p.Leu418Met LB/B rs2526374 - RNF43 Q68DV7 VAR_030718 p.Pro686Arg LB/B rs9652855 - RNF43 Q68DV7 VAR_052103 p.Arg343His LB/B rs34523089 - RNF6 Q9Y252 VAR_034465 p.Asn48Ser LB/B rs3910433 - RNF6 Q9Y252 VAR_052094 p.Val203Glu LB/B rs7990167 - RNF6 Q9Y252 VAR_052095 p.Ser623Asn LB/B rs17083436 - RNF6 Q9Y252 VAR_063490 p.Arg102Lys LB/B rs121434522 - RNF6 Q9Y252 VAR_063491 p.Ile164Thr LB/B rs61760897 - RNF6 Q9Y252 VAR_063492 p.Ala242Thr LB/B rs121434523 - RNF6 Q9Y252 VAR_063493 p.Gly244Asp LB/B rs121434524 - RNF6 Q9Y252 VAR_063494 p.Arg572Gln LB/B rs138379662 - RNF8 O76064 VAR_052096 p.Ala162Thr LB/B rs34338974 - RNF8 O76064 VAR_052097 p.Ile473Val LB/B rs1139944 - RNGTT O60942 VAR_046481 p.Arg594His LB/B rs17856595 - RNH1 P13489 VAR_014726 p.Pro170Leu LB/B rs17585 - RNH1 P13489 VAR_088811 p.Gln93His US - Encephalitis, acute, infection-induced, 12 (IIAE12) [MIM:620461] RNH1 P13489 VAR_088812 p.Cys209Tyr US - Encephalitis, acute, infection-induced, 12 (IIAE12) [MIM:620461] RNH1 P13489 VAR_088813 p.Leu296Pro US - Encephalitis, acute, infection-induced, 12 (IIAE12) [MIM:620461] RNH1 P13489 VAR_088814 p.Arg373Trp LP/P - Encephalitis, acute, infection-induced, 12 (IIAE12) [MIM:620461] RNLS Q5VYX0 VAR_023310 p.Glu37Asp LB/B rs2296545 - RNPC3 Q96LT9 VAR_081540 p.Pro474Thr LP/P rs370930012 Pituitary hormone deficiency, combined or isolated, 7 (CPHD7) [MIM:618160] RNPEP Q9H4A4 VAR_051566 p.Val579Ile LB/B rs3820439 - RNPEPL1 Q9HAU8 VAR_036046 p.Val478Met US rs1454498603 A colorectal cancer sample ROBO1 Q9Y6N7 VAR_019071 p.Ser1055Asn US rs919603543 A breast cancer sample ROBO1 Q9Y6N7 VAR_019072 p.Glu1533Asp US rs36055689 A breast cancer sample ROBO1 Q9Y6N7 VAR_053640 p.Val336Ala LB/B rs9647397 - ROBO1 Q9Y6N7 VAR_053641 p.Ser1091Asn LB/B rs35456279 - ROBO1 Q9Y6N7 VAR_088311 p.Pro176Ser LP/P - Neurooculorenal syndrome (NORS) [MIM:620305] ROBO1 Q9Y6N7 VAR_088313 p.Cys240Ser US - Pituitary hormone deficiency, combined or isolated, 8 (CPHD8) [MIM:620303] ROBO1 Q9Y6N7 VAR_088314 p.Val273Ala US - Neurooculorenal syndrome (NORS) [MIM:620305] ROBO1 Q9Y6N7 VAR_088317 p.Asp422Gly US - - ROBO1 Q9Y6N7 VAR_088318 p.Pro564Ser US - Pituitary hormone deficiency, combined or isolated, 8 (CPHD8) [MIM:620303] ROBO1 Q9Y6N7 VAR_088319 p.Ser689Pro US - Neurooculorenal syndrome (NORS) [MIM:620305] ROBO1 Q9Y6N7 VAR_088325 p.Ser1522Leu US - Nystagmus 8, congenital, autosomal recessive (NYS8) [MIM:257400] ROBO2 Q9HCK4 VAR_032960 p.Ile945Thr LP/P rs267607014 Vesicoureteral reflux 2 (VUR2) [MIM:610878] ROBO2 Q9HCK4 VAR_032961 p.Ala1236Thr LP/P rs267607015 Vesicoureteral reflux 2 (VUR2) [MIM:610878] ROBO3 Q96MS0 VAR_019073 p.Glu319Lys LP/P rs121918274 Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313] ROBO3 Q96MS0 VAR_019074 p.Arg703Pro LP/P rs121918271 Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313] ROBO3 Q96MS0 VAR_019075 p.Ser705Pro LP/P rs121918272 Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313] ROBO3 Q96MS0 VAR_019119 p.Leu5Pro LP/P rs121918275 Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313] ROBO3 Q96MS0 VAR_019120 p.Ile66Leu LP/P rs121918276 Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313] ROBO3 Q96MS0 VAR_019121 p.Gly361Glu LP/P rs121918270 Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313] ROBO3 Q96MS0 VAR_034474 p.Val423Met LB/B rs4935898 - ROBO3 Q96MS0 VAR_034475 p.Gln1369Arg LB/B rs35723495 - ROBO3 Q96MS0 VAR_053642 p.Arg416His LB/B rs3862618 - ROBO3 Q96MS0 VAR_062145 p.Pro868Leu LB/B rs55706177 - ROBO4 Q8WZ75 VAR_053644 p.Arg669Gln LB/B rs4408324 - ROBO4 Q8WZ75 VAR_062146 p.Gln54Arg LB/B rs59648931 - ROBO4 Q8WZ75 VAR_083093 p.Arg64Cys LP/P rs201393279 Aortic valve disease 3 (AOVD3) [MIM:618496] ROBO4 Q8WZ75 VAR_083094 p.Ala95Thr US rs138370967 Aortic valve disease 3 (AOVD3) [MIM:618496] ROBO4 Q8WZ75 VAR_083095 p.Thr232Met US rs150700978 Aortic valve disease 3 (AOVD3) [MIM:618496] ROBO4 Q8WZ75 VAR_083096 p.Val247Ala US rs779392207 Aortic valve disease 3 (AOVD3) [MIM:618496] ROBO4 Q8WZ75 VAR_083097 p.Tyr280Ser US rs755747435 Aortic valve disease 3 (AOVD3) [MIM:618496] ROBO4 Q8WZ75 VAR_083098 p.His411Gln US rs1565326476 Aortic valve disease 3 (AOVD3) [MIM:618496] ROBO4 Q8WZ75 VAR_083099 p.Asp510Val US rs1565325937 Aortic valve disease 3 (AOVD3) [MIM:618496] ROBO4 Q8WZ75 VAR_083101 p.Asp622His US rs138111911 Aortic valve disease 3 (AOVD3) [MIM:618496] ROBO4 Q8WZ75 VAR_083102 p.Ala749Leu US rs1565322176 Aortic valve disease 3 (AOVD3) [MIM:618496] ROCK1 Q13464 VAR_041055 p.Ser108Asn LB/B rs55811609 - ROCK1 Q13464 VAR_041056 p.Thr773Ser LB/B rs45562542 - ROCK1 Q13464 VAR_041057 p.Thr1112Pro LB/B rs35881519 - ROCK1 Q13464 VAR_041058 p.Pro1193Ser US rs1057520015 A lung neuroendocrine carcinoma sample ROCK1 Q13464 VAR_041059 p.Gln1217Glu LB/B rs201390233 - ROCK1 Q13464 VAR_041060 p.Arg1262Gln LB/B rs1045142 - ROCK1 Q13464 VAR_041061 p.Cys1264Arg LB/B rs2663698 - ROCK2 O75116 VAR_041062 p.Thr431Asn LB/B rs2230774 - ROCK2 O75116 VAR_041063 p.Asp601Val LB/B rs35768389 - ROCK2 O75116 VAR_041064 p.Ser1194Pro US - A metastatic melanoma sample ROCK2 O75116 VAR_057110 p.Lys1083Met LB/B rs34945852 - ROGDI Q9GZN7 VAR_038273 p.Glu59Lys LB/B rs2305659 - ROM1 Q03395 VAR_006896 p.Pro60Thr LB/B rs199757012 - ROM1 Q03395 VAR_006897 p.Thr108Met LB/B rs146358003 - ROM1 Q03395 VAR_006898 p.Arg229His LB/B rs150168119 - ROM1 Q03395 VAR_006899 p.Ala265Thr LB/B rs200272942 - ROM1 Q03395 VAR_006900 p.Met271Thr LB/B rs137950927 - ROM1 Q03395 VAR_008269 p.Arg16His LB/B rs143166696 - ROM1 Q03395 VAR_008270 p.Gly75Asp LB/B rs747140028 - ROM1 Q03395 VAR_008271 p.Gly118Ala LB/B rs1799959 - ROM1 Q03395 VAR_008272 p.Arg242Gln LB/B rs767877192 - ROMO1 P60602 VAR_014127 p.Ala28Pro LB/B rs1044521 - ROPN1L Q96C74 VAR_035442 p.Asn103Lys LB/B rs35573613 - ROPN1L Q96C74 VAR_035443 p.Pro156Arg LB/B rs17851209 - ROPN1L Q96C74 VAR_057789 p.Ala113Val LB/B rs2303986 - ROR1 Q01973 VAR_035713 p.Glu562Asp US rs760789417 A breast cancer sample ROR1 Q01973 VAR_041779 p.Gly144Glu US - A metastatic melanoma sample ROR1 Q01973 VAR_041780 p.Phe150Leu US - An ovarian mucinous carcinoma sample ROR1 Q01973 VAR_041781 p.Ile301Val US - A renal clear cell carcinoma sample ROR1 Q01973 VAR_041782 p.Thr518Met LB/B rs7527017 - ROR1 Q01973 VAR_041783 p.Arg567Ile US - A colorectal adenocarcinoma sample ROR1 Q01973 VAR_041784 p.Gly624Arg LB/B rs55832740 - ROR1 Q01973 VAR_041785 p.Tyr646Cys LB/B rs34109134 - ROR1 Q01973 VAR_041786 p.Ser776Asn US - A colorectal adenocarcinoma sample ROR1 Q01973 VAR_079530 p.Arg736Thr LP/P rs1553163562 Deafness, autosomal recessive, 108 (DFNB108) [MIM:617654] ROR2 Q01974 VAR_010768 p.Arg184Cys LP/P rs121909084 Robinow syndrome, autosomal recessive 1 (RRS1) [MIM:268310] ROR2 Q01974 VAR_010769 p.Arg189Trp LP/P rs199975149 Robinow syndrome, autosomal recessive 1 (RRS1) [MIM:268310] ROR2 Q01974 VAR_010770 p.Arg366Trp LP/P - Robinow syndrome, autosomal recessive 1 (RRS1) [MIM:268310] ROR2 Q01974 VAR_010771 p.Asn620Lys LP/P - Robinow syndrome, autosomal recessive 1 (RRS1) [MIM:268310] ROR2 Q01974 VAR_010911 p.Cys182Tyr LP/P - Robinow syndrome, autosomal recessive 1 (RRS1) [MIM:268310] ROR2 Q01974 VAR_010912 p.Thr245Ala LB/B rs10820900 - ROR2 Q01974 VAR_010913 p.Val819Ile LB/B rs10761129 - ROR2 Q01974 VAR_041787 p.Arg244Gln LB/B rs55737262 - ROR2 Q01974 VAR_041788 p.His349Asp LB/B rs55983376 - ROR2 Q01974 VAR_041789 p.Gly490Ala LB/B rs56197744 - ROR2 Q01974 VAR_041790 p.Arg530Gln LB/B rs35852786 - ROR2 Q01974 VAR_041791 p.Val542Met US rs140213020 A colorectal adenocarcinoma sample ROR2 Q01974 VAR_041792 p.Pro548Ser LB/B rs35764413 - ROR2 Q01974 VAR_041793 p.Ser557Leu LB/B rs56099091 - ROR2 Q01974 VAR_041794 p.Asp644Asn LB/B rs55798732 - ROR2 Q01974 VAR_041795 p.Asp672Asn LB/B rs55651110 - ROR2 Q01974 VAR_041796 p.Gly695Arg LB/B rs34431454 - ROR2 Q01974 VAR_041797 p.Arg738Cys LB/B rs56231927 - ROR2 Q01974 VAR_041798 p.Ser762Leu LB/B rs34491822 - ROR2 Q01974 VAR_041799 p.Asp935Glu LB/B rs41277835 - RORA P35398 VAR_081089 p.Cys90Ser US - Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060] RORA P35398 VAR_081090 p.Gly92Ala LP/P rs1555427498 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060] RORA P35398 VAR_081091 p.Lys94Arg LP/P rs1555427497 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060] RORA P35398 VAR_081092 p.Ser409Arg LP/P - Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060] RORA P35398 VAR_081093 p.Arg462Gln LP/P rs1433850094 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060] RORA P35398 VAR_081094 p.Thr476Ala LB/B rs190933482 - RORB Q92753 VAR_082062 p.Leu84Pro LP/P rs869312971 Epilepsy, idiopathic generalized 15 (EIG15) [MIM:618357] RORC P51449 VAR_073725 p.Ser38Leu LP/P rs774357869 Immunodeficiency 42 (IMD42) [MIM:616622] ROS1 P08922 VAR_030648 p.Thr145Pro LB/B rs1998206 - ROS1 P08922 VAR_030649 p.Arg167Gln LB/B rs2243380 - ROS1 P08922 VAR_030650 p.Ser1109Leu LB/B rs2229079 - ROS1 P08922 VAR_030651 p.Phe1439Ser LB/B rs17079086 - ROS1 P08922 VAR_030652 p.Asp1776His LB/B rs12664076 - ROS1 P08922 VAR_030653 p.Glu1902Lys LB/B rs9489124 - ROS1 P08922 VAR_030654 p.Arg2039His LB/B rs3752566 - ROS1 P08922 VAR_030655 p.Asp2213Asn LB/B rs529038 - ROS1 P08922 VAR_030656 p.Ser2229Cys LB/B rs619203 - ROS1 P08922 VAR_030657 p.Asn2240Lys LB/B rs210968 - ROS1 P08922 VAR_041442 p.Asn13Ser LB/B rs45606237 - ROS1 P08922 VAR_041443 p.Gly126Val LB/B rs34245787 - ROS1 P08922 VAR_041444 p.Pro224Ser LB/B rs55959124 - ROS1 P08922 VAR_041445 p.Tyr338Cys LB/B rs55707658 - ROS1 P08922 VAR_041446 p.Ser370Pro LB/B rs56274823 - ROS1 P08922 VAR_041447 p.Tyr419His US rs1444274116 A gastric adenocarcinoma sample ROS1 P08922 VAR_041448 p.Ile537Met LB/B rs28639589 - ROS1 P08922 VAR_041449 p.Ser653Phe LB/B rs34203286 - ROS1 P08922 VAR_041450 p.Gln865His US - A lung large cell carcinoma sample ROS1 P08922 VAR_041451 p.Tyr1239Phe LB/B rs56192249 - ROS1 P08922 VAR_041452 p.Tyr1353Ser LB/B rs35269727 - ROS1 P08922 VAR_041453 p.Cys1370Arg LB/B rs36106063 - ROS1 P08922 VAR_041454 p.Arg1506Gly LB/B rs35841892 - ROS1 P08922 VAR_041455 p.His1999Asn LB/B rs45569132 - ROS1 P08922 VAR_041456 p.Lys2003Arg US - A colorectal adenocarcinoma sample ROS1 P08922 VAR_041457 p.Phe2138Ser US - A gastric adenocarcinoma sample ROS1 P08922 VAR_041458 p.Asp2203Asn LB/B rs556427413 - ROS1 P08922 VAR_041459 p.Asp2213Glu LB/B rs75510639 - ROS1 P08922 VAR_041460 p.Lys2228Gln LB/B rs529156 - ROS1 P08922 VAR_049712 p.Asn790Ser LB/B rs34582164 - ROS1 P08922 VAR_049713 p.Lys2328Arg LB/B rs35932630 - RP1 P56715 VAR_007810 p.Arg872His LB/B rs444772 - RP1 P56715 VAR_007811 p.Asn985Tyr LB/B rs2293869 - RP1 P56715 VAR_007812 p.Ala1670Thr LB/B rs446227 - RP1 P56715 VAR_007813 p.Ser1691Pro LB/B rs414352 - RP1 P56715 VAR_007814 p.Cys2033Tyr LB/B rs61739567 - RP1 P56715 VAR_051323 p.Tyr251Cys LB/B rs16920614 - RP1 P56715 VAR_051324 p.Thr752Met LB/B rs28399531 - RP1 P56715 VAR_051325 p.Val945Leu LB/B rs16920621 - RP1 P56715 VAR_051326 p.Arg1595Gln LB/B rs35084330 - RP1 P56715 VAR_064182 p.Asp202Glu LP/P rs1805879513 Retinitis pigmentosa 1 (RP1) [MIM:180100] RP1 P56715 VAR_064183 p.Thr373Ile US rs77775126 Retinitis pigmentosa 1 (RP1) [MIM:180100] RP1 P56715 VAR_064466 p.Ile408Leu LB/B - - RP1 P56715 VAR_064467 p.Lys663Asn US rs372551375 Retinitis pigmentosa 1 (RP1) [MIM:180100] RP1 P56715 VAR_064468 p.Ala669Thr LP/P rs201725231 Retinitis pigmentosa 1 (RP1) [MIM:180100] RP1 P56715 VAR_064469 p.Gly706Arg LB/B rs199879316 - RP1 P56715 VAR_064470 p.Cys727Trp LB/B - - RP1 P56715 VAR_064471 p.Asp984Gly LP/P rs200135800 Retinitis pigmentosa 1 (RP1) [MIM:180100] RP1 P56715 VAR_064472 p.Lys1370Glu US rs186594858 Retinitis pigmentosa 1 (RP1) [MIM:180100] RP1 P56715 VAR_064473 p.Arg1652Leu US rs760740229 Retinitis pigmentosa 1 (RP1) [MIM:180100] RP1 P56715 VAR_064474 p.Leu1808Pro US rs371969576 Retinitis pigmentosa 1 (RP1) [MIM:180100] RP1 P56715 VAR_066948 p.Arg168Gly LB/B rs1422215201 - RP1 P56715 VAR_066949 p.Ala218Thr LB/B rs145691085 - RP1 P56715 VAR_066950 p.Arg376Leu LB/B rs1166678265 - RP1 P56715 VAR_066951 p.Lys900Asn LP/P - Retinitis pigmentosa 1 (RP1) [MIM:180100] RP1 P56715 VAR_066952 p.Asp1072Gly LB/B rs756775228 - RP1 P56715 VAR_066953 p.Leu1356Ser LB/B - - RP1 P56715 VAR_066954 p.Leu1417Pro LB/B rs139294220 - RP1 P56715 VAR_066955 p.Leu1425Pro LB/B rs1338252422 - RP1 P56715 VAR_066956 p.Pro1793Ser LB/B rs143088423 - RP1 P56715 VAR_066957 p.Phe1935Leu LB/B rs140137224 - RP1 P56715 VAR_066958 p.Asp2066Asn LB/B rs149282954 - RP1 P56715 VAR_066959 p.Thr2113Asn LP/P rs137887415 Retinitis pigmentosa 1 (RP1) [MIM:180100] RP1 P56715 VAR_068351 p.Leu172Arg LP/P rs180729424 Retinitis pigmentosa 1 (RP1) [MIM:180100] RP1L1 Q8IWN7 VAR_017700 p.Pro44Ala LB/B rs140397694 - RP1L1 Q8IWN7 VAR_017701 p.Arg56Cys LB/B rs150931842 - RP1L1 Q8IWN7 VAR_017702 p.Thr112Ser LB/B rs6601495 - RP1L1 Q8IWN7 VAR_017703 p.Arg136His LB/B rs189960401 - RP1L1 Q8IWN7 VAR_017704 p.Ala487Val LB/B rs74400517 - RP1L1 Q8IWN7 VAR_017705 p.Ala624Thr LB/B rs141846905 - RP1L1 Q8IWN7 VAR_017706 p.Leu792Pro LB/B rs35602868 - RP1L1 Q8IWN7 VAR_017707 p.Glu795Lys LB/B rs199746022 - RP1L1 Q8IWN7 VAR_017708 p.Arg860Trp LB/B rs62490856 - RP1L1 Q8IWN7 VAR_017709 p.Arg1146Trp LB/B rs4840502 - RP1L1 Q8IWN7 VAR_017710 p.Ala1285Ser LB/B - - RP1L1 Q8IWN7 VAR_017712 p.Glu1324Gly LB/B rs4240659 - RP1L1 Q8IWN7 VAR_017715 p.Gly1335Arg LB/B rs61503212 - RP1L1 Q8IWN7 VAR_017721 p.Ala1483Val LB/B rs62490855 - RP1L1 Q8IWN7 VAR_017722 p.Pro1495Arg LB/B rs4841399 - RP1L1 Q8IWN7 VAR_017723 p.Ser1505Leu LB/B rs202068070 - RP1L1 Q8IWN7 VAR_017725 p.Ala1709Val LB/B rs13267180 - RP1L1 Q8IWN7 VAR_017726 p.Gly1816Asp LB/B rs79019225 - RP1L1 Q8IWN7 VAR_017728 p.Asp1889Val LB/B rs28446662 - RP1L1 Q8IWN7 VAR_017729 p.Ala1946Glu LB/B rs11785822 - RP1L1 Q8IWN7 VAR_017730 p.Thr1954Ala LB/B rs11783478 - RP1L1 Q8IWN7 VAR_017731 p.Gly2069Val LB/B - - RP1L1 Q8IWN7 VAR_017732 p.Gln2088His LB/B rs11778341 - RP1L1 Q8IWN7 VAR_017733 p.Glu2140Lys LB/B rs72494282 - RP1L1 Q8IWN7 VAR_017734 p.Glu2171Lys LB/B rs4354268 - RP1L1 Q8IWN7 VAR_017735 p.Pro2199Leu LB/B rs75797924 - RP1L1 Q8IWN7 VAR_017736 p.Glu2242Gly LB/B - - RP1L1 Q8IWN7 VAR_017737 p.Gly2285Arg LB/B rs55642448 - RP1L1 Q8IWN7 VAR_017738 p.His2335Arg LB/B rs117007660 - RP1L1 Q8IWN7 VAR_047388 p.Arg1467Ser LB/B rs4840498 - RP1L1 Q8IWN7 VAR_056979 p.His222Pro LB/B rs4388421 - RP1L1 Q8IWN7 VAR_056981 p.Glu2091Lys LB/B rs1182974647 - RP1L1 Q8IWN7 VAR_065126 p.Arg45Trp LP/P rs267607017 Occult macular dystrophy (OCMD) [MIM:613587] RP1L1 Q8IWN7 VAR_065127 p.Trp960Arg LP/P rs267607018 Occult macular dystrophy (OCMD) [MIM:613587] RP1L1 Q8IWN7 VAR_068350 p.Ser1199Cys US rs863225442 Occult macular dystrophy (OCMD) [MIM:613587] RP1L1 Q8IWN7 VAR_080211 p.Gly514Ser LB/B rs74990397 - RP1L1 Q8IWN7 VAR_080217 p.Ala1319Gly LB/B rs4840501 - RP1L1 Q8IWN7 VAR_083926 p.Pro19His US rs748984657 Retinitis pigmentosa 88 (RP88) [MIM:618826] RP1L1 Q8IWN7 VAR_083927 p.Arg152Gln US rs200213603 Retinitis pigmentosa 88 (RP88) [MIM:618826] RP1L1 Q8IWN7 VAR_083929 p.Arg950His US rs201968725 Occult macular dystrophy (OCMD) [MIM:613587] RP1L1 Q8IWN7 VAR_083931 p.Gly1200Asp US rs964723839 Occult macular dystrophy (OCMD) [MIM:613587] RP2 O75695 VAR_008498 p.Cys108Gly LP/P - Retinitis pigmentosa 2 (RP2) [MIM:312600] RP2 O75695 VAR_008499 p.Arg118His LP/P rs28933687 Retinitis pigmentosa 2 (RP2) [MIM:312600] RP2 O75695 VAR_008500 p.Leu253Arg LP/P - Retinitis pigmentosa 2 (RP2) [MIM:312600] RP2 O75695 VAR_014535 p.Arg282Trp LB/B rs1805147 - RP2 O75695 VAR_014536 p.Asp338Tyr LB/B rs1805148 - RP2 O75695 VAR_018069 p.Cys67Tyr LP/P - Retinitis pigmentosa 2 (RP2) [MIM:312600] RP2 O75695 VAR_018070 p.Cys86Tyr LP/P - Retinitis pigmentosa 2 (RP2) [MIM:312600] RP2 O75695 VAR_018071 p.Pro95Leu US - Retinitis pigmentosa 2 (RP2) [MIM:312600] RP2 O75695 VAR_018072 p.Arg118Leu LP/P rs28933687 Retinitis pigmentosa 2 (RP2) [MIM:312600] RP2 O75695 VAR_018074 p.Glu138Gly LP/P - Retinitis pigmentosa 2 (RP2) [MIM:312600] RP2 O75695 VAR_018075 p.Leu188Pro LP/P - Retinitis pigmentosa 2 (RP2) [MIM:312600] RP2 O75695 VAR_026058 p.Arg118Cys LP/P rs1556318633 Retinitis pigmentosa 2 (RP2) [MIM:312600] RP2 O75695 VAR_053961 p.Lys144Arg LB/B rs3126141 - RP2 O75695 VAR_068353 p.Cys108Tyr LP/P - Retinitis pigmentosa 2 (RP2) [MIM:312600] RP9 Q8TA86 VAR_017252 p.His137Leu LP/P rs104894037 Retinitis pigmentosa 9 (RP9) [MIM:180104] RP9 Q8TA86 VAR_017253 p.Asp170Gly LP/P rs104894039 Retinitis pigmentosa 9 (RP9) [MIM:180104] RP9 Q8TA86 VAR_017254 p.Lys210Arg LB/B rs150987618 - RPA1 P27694 VAR_019236 p.Thr351Ala LB/B rs5030755 - RPA1 P27694 VAR_086965 p.Val227Ala US - Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 6 (PFBMFT6) [MIM:619767] RPA1 P27694 VAR_086966 p.Glu240Lys LP/P - Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 6 (PFBMFT6) [MIM:619767] RPA1 P27694 VAR_086967 p.Thr270Ala US - Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 6 (PFBMFT6) [MIM:619767] RPA2 P15927 VAR_023300 p.Tyr14Ser LB/B rs28988896 - RPA2 P15927 VAR_023301 p.Gly15Arg LB/B rs28988897 - RPA2 P15927 VAR_023302 p.Asn203Ser LB/B rs28904899 - RPA4 Q13156 VAR_019170 p.Ala33Thr LB/B rs2642219 - RPAIN Q86UA6 VAR_023947 p.Asn103Lys LB/B rs12761 - RPAP1 Q9BWH6 VAR_036469 p.Arg525Gln US rs372712659 A colorectal cancer sample RPAP1 Q9BWH6 VAR_057738 p.Lys165Met LB/B rs2297382 - RPAP1 Q9BWH6 VAR_057739 p.Arg429Gln LB/B rs2289741 - RPAP1 Q9BWH6 VAR_057740 p.Arg582Gly LB/B rs11630901 - RPAP1 Q9BWH6 VAR_060348 p.Glu506Lys LB/B rs1200345 - RPAP1 Q9BWH6 VAR_060349 p.Gln825Glu LB/B rs8027526 - RPAP1 Q9BWH6 VAR_060350 p.Arg1108Gly LB/B rs7170898 - RPAP3 Q9H6T3 VAR_057354 p.Asp564Tyr LB/B rs11168196 - RPE65 Q16518 VAR_017126 p.Leu22Pro LP/P rs61751277 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017127 p.Gly40Ser LP/P rs61751281 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017128 p.Arg44Gln LP/P rs61751282 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017129 p.His68Tyr LP/P rs61752866 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017130 p.Arg91Trp LP/P rs61752871 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017130 p.Arg91Trp LP/P rs61752871 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_017131 p.Arg91Gln LP/P rs61752873 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017132 p.Ala132Thr US rs61752878 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_017133 p.Tyr144Asp LP/P rs61752880 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017134 p.His182Tyr LP/P rs61752884 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017135 p.Val287Phe LP/P rs281865289 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017136 p.Asn321Lys LB/B rs149916178 - RPE65 Q16518 VAR_017137 p.Leu341Ser LP/P rs61752909 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_017138 p.Pro363Thr LP/P rs121917744 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017139 p.Tyr368His LP/P rs62653011 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_017140 p.Ala393Gly LP/P rs62635773 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017141 p.Glu417Gln LP/P rs62636299 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017142 p.Val452Gly LP/P rs62637004 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_018151 p.Tyr431Cys LP/P rs62636300 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_034477 p.Ala434Val LP/P rs34627040 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_037619 p.Arg515Trp LP/P rs121917745 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060809 p.Tyr79His LP/P rs61752869 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060810 p.Arg85His US rs61752870 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060811 p.Glu95Gln LP/P rs61752874 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060812 p.Glu102Lys LP/P rs62642584 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060812 p.Glu102Lys LP/P rs62642584 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060813 p.Glu148Asp LP/P rs61752882 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060814 p.Asp167Tyr LP/P rs61752883 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060814 p.Asp167Tyr LP/P rs61752883 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060815 p.His182Asn LP/P rs61752884 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060816 p.Tyr239Asp LP/P rs61752896 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060816 p.Tyr239Asp LP/P rs61752896 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060817 p.Lys294Thr LP/P rs61752901 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060818 p.Cys330Tyr LP/P rs61752908 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060819 p.Ala393Glu LP/P - Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060820 p.Tyr435Cys LP/P rs62636302 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060821 p.Gly436Val LP/P rs62637002 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060822 p.Pro470Leu LP/P rs774211361 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060823 p.Val473Asp LP/P rs62637007 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060824 p.Gly528Val LP/P rs1193631220 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_067160 p.Phe70Val LP/P - Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_067160 p.Phe70Val LP/P - Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_067161 p.Arg91Pro LP/P rs61752873 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_067162 p.Val99Ile US rs143056561 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_067163 p.His313Arg LP/P rs1375943362 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_067164 p.Gly333Arg US rs1459522532 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_067757 p.Asp477Gly US rs1571158279 Retinitis pigmentosa 87 with choroidal involvement (RP87) [MIM:618697] RPE65 Q16518 VAR_070172 p.Leu67Arg US rs1344724754 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_070173 p.Tyr368Cys US rs62653012 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_071672 p.Leu60Pro LP/P rs1266217912 Retinitis pigmentosa 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_081684 p.Gly40Asp LP/P - Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_083292 p.Thr101Ile LP/P rs1444234037 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_083293 p.Arg118Ser US rs61752876 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_083294 p.Thr162Pro US rs774309607 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_083295 p.Tyr318Asn LP/P rs61752905 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_083297 p.Leu408Pro LP/P rs62636298 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_083298 p.Val443Ala US rs1645824187 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_083300 p.Ser533Thr US rs577335767 Leber congenital amaurosis 2 (LCA2) [MIM:204100] RPF1 Q9H9Y2 VAR_022871 p.Ser9Gly LB/B rs2292191 - RPF1 Q9H9Y2 VAR_048421 p.Met223Ile LB/B rs7528067 - RPF2 Q9H7B2 VAR_033639 p.Ala41Gly LB/B rs9320350 - RPF2 Q9H7B2 VAR_033640 p.Gly60Ser LB/B rs6909298 - RPGR Q92834 VAR_006850 p.Phe130Cys LP/P rs62638644 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_006851 p.Pro235Ser LP/P rs62638651 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_006852 p.Gly275Ser LP/P rs62642057 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_008501 p.Gly60Val LP/P rs62638634 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_008503 p.Ile75Val LP/P rs111631988 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_008504 p.His98Gln LP/P rs62638636 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_008505 p.Gly215Val LP/P rs62650218 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_008506 p.Cys250Arg LP/P rs62650220 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_008507 p.Ala262Gly US rs138018739 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_008508 p.Arg425Lys LB/B rs1801687 - RPGR Q92834 VAR_008509 p.Ile431Val LB/B rs62635003 - RPGR Q92834 VAR_008510 p.Gly436Asp LP/P rs62635004 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_008511 p.Gly566Glu LB/B rs1801688 - RPGR Q92834 VAR_011561 p.Cys302Arg LP/P rs62640589 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_011563 p.Thr533Met LB/B rs41312104 - RPGR Q92834 VAR_013624 p.Ser76Ile LB/B rs1801685 - RPGR Q92834 VAR_013625 p.Thr99Asn LP/P rs62638637 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_013626 p.Ile289Val LP/P rs62640587 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018057 p.Gly43Glu LP/P rs62638630 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018058 p.Gly43Arg LP/P rs62638629 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018059 p.Arg127Gly LP/P rs62638643 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018060 p.Gly173Arg LP/P rs137852550 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018060 p.Gly173Arg LP/P rs137852550 Retinitis pigmentosa, X-linked, and sinorespiratory infections with or without deafness (RPSRDF) [MIM:300455] RPGR Q92834 VAR_018061 p.Cys250Tyr LP/P rs1601961064 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018063 p.Gly267Glu LP/P - Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018064 p.Cys302Tyr LP/P rs62640590 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018065 p.Asp312Asn LP/P - Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018066 p.Asp312Tyr LP/P - Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018067 p.Gly320Arg LP/P rs62640593 Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018068 p.Asn345Asp LB/B rs41305223 - RPGR Q92834 VAR_025949 p.Ser152Leu LP/P - Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_026127 p.Gly267Arg LP/P - Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_026128 p.Glu285Gly LP/P - Retinitis pigmentosa 3 (RP3) [MIM:300029] RPGR Q92834 VAR_033259 p.Gln184His LB/B rs5963403 - RPGRIP1 Q96KN7 VAR_017830 p.Lys192Glu LB/B rs6571751 - RPGRIP1 Q96KN7 VAR_017831 p.Ala547Ser LP/P rs10151259 Cone-rod dystrophy 13 (CORD13) [MIM:608194] RPGRIP1 Q96KN7 VAR_017832 p.Ser601Leu LB/B rs3748360 - RPGRIP1 Q96KN7 VAR_017833 p.Gly746Glu LP/P rs61751268 Leber congenital amaurosis 6 (LCA6) [MIM:613826] RPGRIP1 Q96KN7 VAR_017834 p.Arg827Leu LP/P rs28937883 Cone-rod dystrophy 13 (CORD13) [MIM:608194] RPGRIP1 Q96KN7 VAR_017835 p.Glu1033Gln LB/B rs3748361 - RPGRIP1 Q96KN7 VAR_017836 p.Asp1114Gly LP/P rs17103671 Leber congenital amaurosis 6 (LCA6) [MIM:613826] RPGRIP1 Q96KN7 VAR_057772 p.Pro96Gln LB/B rs1040904 - RPGRIP1 Q96KN7 VAR_057773 p.Ala960Pro LB/B rs35810926 - RPGRIP1 Q96KN7 VAR_057774 p.Gly1240Glu LB/B rs34725281 - RPGRIP1 Q96KN7 VAR_065720 p.Met32Leu LB/B - - RPGRIP1 Q96KN7 VAR_065721 p.Ser135Arg LB/B - - RPGRIP1 Q96KN7 VAR_065722 p.Ala318Val LB/B rs1325466987 - RPGRIP1 Q96KN7 VAR_065723 p.Arg363Thr US - - RPGRIP1 Q96KN7 VAR_065724 p.Pro585Ser LB/B rs147586703 - RPGRIP1 Q96KN7 VAR_065725 p.Gln589His LB/B rs34067949 - RPGRIP1 Q96KN7 VAR_065726 p.Arg598Gln LB/B rs74034910 - RPGRIP1 Q96KN7 VAR_065727 p.Cys603Ser LB/B - - RPGRIP1 Q96KN7 VAR_065728 p.Ala635Gly LB/B rs200325360 - RPGRIP1 Q96KN7 VAR_065729 p.Thr638Ile LB/B rs1010290273 - RPGRIP1 Q96KN7 VAR_065730 p.Ala764Val LB/B rs758652031 - RPGRIP1 Q96KN7 VAR_065731 p.Thr806Ile LB/B rs142796310 - RPGRIP1 Q96KN7 VAR_065732 p.Arg812His US - - RPGRIP1 Q96KN7 VAR_065733 p.Arg814Leu LB/B rs372647080 - RPGRIP1 Q96KN7 VAR_065734 p.Ala837Gly LB/B rs373515194 - RPGRIP1 Q96KN7 VAR_065735 p.Ile838Val LB/B rs772480252 - RPGRIP1 Q96KN7 VAR_065736 p.Ala841Thr LB/B - - RPGRIP1 Q96KN7 VAR_065737 p.Arg852Gln LB/B rs181758389 - RPGRIP1 Q96KN7 VAR_065738 p.Gly883Asp LB/B - - RPGRIP1 Q96KN7 VAR_067184 p.Ser432Phe LB/B rs190985984 - RPGRIP1 Q96KN7 VAR_067185 p.Ser601Trp LB/B rs3748360 - RPGRIP1 Q96KN7 VAR_067186 p.His631Pro LP/P - Leber congenital amaurosis 6 (LCA6) [MIM:613826] RPGRIP1 Q96KN7 VAR_067187 p.His1057Leu LB/B rs201521970 - RPGRIP1 Q96KN7 VAR_067188 p.Glu1130Gln US - - RPGRIP1 Q96KN7 VAR_076792 p.Asp876Gly LB/B rs61751274 - RPGRIP1 Q96KN7 VAR_076823 p.Val1211Glu LP/P - Leber congenital amaurosis 6 (LCA6) [MIM:613826] RPGRIP1L Q68CZ1 VAR_039393 p.Thr615Pro LP/P rs121918198 Joubert syndrome 7 (JBTS7) [MIM:611560] RPGRIP1L Q68CZ1 VAR_039394 p.Thr677Ile LP/P rs532768944 Joubert syndrome 7 (JBTS7) [MIM:611560] RPGRIP1L Q68CZ1 VAR_039395 p.Ala695Pro LP/P rs121918200 Joubert syndrome 7 (JBTS7) [MIM:611560] RPGRIP1L Q68CZ1 VAR_039396 p.Arg744Gln LB/B rs2302677 - RPGRIP1L Q68CZ1 VAR_039397 p.Gly1025Ser LB/B rs2111119 - RPGRIP1L Q68CZ1 VAR_039398 p.Asp1264Asn LB/B rs3213758 - RPGRIP1L Q68CZ1 VAR_063805 p.Ser659Pro LP/P rs267607020 COACH syndrome 3 (COACH3) [MIM:619113] RPGRIP1L Q68CZ1 VAR_065556 p.Ala1183Gly LB/B rs139974543 - RPGRIP1L Q68CZ1 VAR_066476 p.Ser199Gly US - - RPGRIP1L Q68CZ1 VAR_066477 p.Ala229Thr LB/B rs61747071 - RPGRIP1L Q68CZ1 VAR_066478 p.Leu447Ser LB/B rs138155747 - RPGRIP1L Q68CZ1 VAR_066479 p.Leu546Phe LB/B rs147331527 - RPGRIP1L Q68CZ1 VAR_066480 p.Val647Ile LB/B rs145572901 - RPGRIP1L Q68CZ1 VAR_066481 p.Arg937Leu LB/B rs776795273 - RPGRIP1L Q68CZ1 VAR_066482 p.Arg1236Cys LP/P rs151332923 Meckel syndrome 5 (MKS5) [MIM:611561] RPGRIP1L Q68CZ1 VAR_066483 p.Asp1264Tyr US - - RPGRIP1L Q68CZ1 VAR_069234 p.Gln550Arg LP/P rs772900011 Joubert syndrome 7 (JBTS7) [MIM:611560] RPGRIP1L Q68CZ1 VAR_076824 p.Glu393Lys LP/P rs375776718 Joubert syndrome 7 (JBTS7) [MIM:611560] RPGRIP1L Q68CZ1 VAR_076825 p.Cys633Arg LP/P rs898062661 Joubert syndrome 7 (JBTS7) [MIM:611560] RPIA P49247 VAR_019122 p.Ala135Val LP/P rs121918591 Ribose 5-phosphate isomerase deficiency (RPIAD) [MIM:608611] RPL10 P27635 VAR_006922 p.Ser202Asn LB/B rs4909 - RPL10 P27635 VAR_027795 p.Leu206Met LB/B rs387906727 - RPL10 P27635 VAR_027796 p.His213Gln LB/B rs782521991 - RPL10 P27635 VAR_079288 p.Ala64Val LP/P - Intellectual developmental disorder, X-linked, syndromic 35 (MRXS35) [MIM:300998] RPL10 P27635 VAR_079289 p.Lys78Glu LP/P rs1131692040 Intellectual developmental disorder, X-linked, syndromic 35 (MRXS35) [MIM:300998] RPL10 P27635 VAR_079290 p.Gly161Ser US rs1131692041 Intellectual developmental disorder, X-linked, syndromic 35 (MRXS35) [MIM:300998] RPL10A P62906 VAR_034458 p.Thr154Pro LB/B rs17838763 - RPL10L Q96L21 VAR_085860 p.His86Pro LP/P rs1883886214 Spermatogenic failure 63 (SPGF63) [MIM:619689] RPL11 P62913 VAR_055448 p.Leu20His LP/P - Diamond-Blackfan anemia 7 (DBA7) [MIM:612562] RPL13 P26373 VAR_051801 p.Ala112Thr LB/B rs9930567 - RPL13 P26373 VAR_051802 p.Thr170Pro LB/B rs1062450 - RPL13 P26373 VAR_083551 p.Arg183Pro LP/P - Spondyloepimetaphyseal dysplasia, Isidor-Toutain type (SEMDIST) [MIM:618728] RPL14 P50914 VAR_013633 p.Ala138Ser LB/B rs929099541 - RPL18 Q07020 VAR_081935 p.Leu51Ser US rs1568425218 Diamond-Blackfan anemia 18 (DBA18) [MIM:618310] RPL21 P46778 VAR_034459 p.Phe15Ser LB/B rs17085349 - RPL21 P46778 VAR_066030 p.Arg32Gln LP/P rs587777527 Hypotrichosis 12 (HYPT12) [MIM:615885] RPL22L1 Q6P5R6 VAR_061771 p.Val97Phe LB/B rs13462 - RPL23A P62750 VAR_069221 p.Ile99Thr US rs151327030 - RPL28 P46779 VAR_034460 p.Arg66Leu LB/B rs13502 - RPL3 P39023 VAR_069220 p.His11Arg US rs1569162425 - RPL35 P42766 VAR_081936 p.Lys77Asn US rs1564307664 Diamond-Blackfan anemia 19 (DBA19) [MIM:618312] RPL35A P18077 VAR_055447 p.Val33Ile LP/P rs116840808 Diamond-Blackfan anemia 5 (DBA5) [MIM:612528] RPL36 Q9Y3U8 VAR_051804 p.Lys67Glu LB/B rs11556110 - RPL36AL Q969Q0 VAR_051809 p.Ile66Val LB/B rs3088024 - RPL3L Q92901 VAR_034461 p.Pro291Leu LB/B rs34265469 - RPL3L Q92901 VAR_085880 p.Gly27Asp US rs770344400 Cardiomyopathy, dilated, 2D (CMD2D) [MIM:619371] RPL3L Q92901 VAR_085881 p.Arg116His US rs376654625 Cardiomyopathy, dilated, 2D (CMD2D) [MIM:619371] RPL3L Q92901 VAR_085882 p.Arg161Trp US rs143544112 Cardiomyopathy, dilated, 2D (CMD2D) [MIM:619371] RPL3L Q92901 VAR_085883 p.Thr189Met US rs924125081 Cardiomyopathy, dilated, 2D (CMD2D) [MIM:619371] RPL3L Q92901 VAR_085884 p.Asp308Asn US rs771732216 Cardiomyopathy, dilated, 2D (CMD2D) [MIM:619371] RPL3L Q92901 VAR_085885 p.Asp308Val US - Cardiomyopathy, dilated, 2D (CMD2D) [MIM:619371] RPL3L Q92901 VAR_085886 p.Arg343Trp US rs1465045317 Cardiomyopathy, dilated, 2D (CMD2D) [MIM:619371] RPL3L Q92901 VAR_087799 p.Ala51Thr US - Cardiomyopathy, dilated, 2D (CMD2D) [MIM:619371] RPL3L Q92901 VAR_087800 p.Val231Phe US - Cardiomyopathy, dilated, 2D (CMD2D) [MIM:619371] RPL5 P46777 VAR_052009 p.Tyr210Cys LB/B rs11540832 - RPL5 P46777 VAR_055450 p.Gly140Ser LP/P rs121434406 Diamond-Blackfan anemia 6 (DBA6) [MIM:612561] RPL5 P46777 VAR_055451 p.Ala285Val LP/P - Diamond-Blackfan anemia 6 (DBA6) [MIM:612561] RPL6 Q02878 VAR_025313 p.His227Arg LB/B rs17851813 - RPL6 Q02878 VAR_036437 p.Lys100Gln US - A colorectal cancer sample RPL6 Q02878 VAR_051810 p.Lys237Glu LB/B rs16942044 - RPL8 P62917 VAR_019658 p.Ile98Val LB/B rs11539893 - RPN2 P04844 VAR_054040 p.Leu597Phe LB/B rs34951322 - RPP21 Q9H633 VAR_019116 p.Gln77His LB/B rs6986 - RPP21 Q9H633 VAR_045986 p.Gln149Lys LB/B rs974963 - RPP30 P78346 VAR_051870 p.Gly12Asp LB/B rs11544145 - RPP38 P78345 VAR_023960 p.Glu88Asp LB/B rs1052157 - RPP38 P78345 VAR_023961 p.Ala114Val LB/B rs1132078 - RPP38 P78345 VAR_023962 p.Ala181Gly LB/B rs15772 - RPP38 P78345 VAR_029298 p.Ile212Thr LB/B rs10242 - RPP38 P78345 VAR_051811 p.Ile86Val LB/B rs3814171 - RPP38 P78345 VAR_051812 p.Ser202Arg LB/B rs12249258 - RPP38 P78345 VAR_051813 p.Arg250Gly LB/B rs34040166 - RPP38-DT Q8N326 VAR_050857 p.Arg70Lys LB/B rs7896053 - RPP40 O75818 VAR_055405 p.Val314Ile LB/B rs12332997 - RPRD1A Q96P16 VAR_037229 p.Gln21His US - A breast cancer sample RPRD2 Q5VT52 VAR_061700 p.Met351Val LB/B rs41273537 - RPS17 P08708 VAR_034478 p.Glu36Lys LB/B rs1043734 - RPS19 P39019 VAR_006924 p.Arg62Trp LP/P rs104894711 Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018437 p.Arg56Gln LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018438 p.Val15Phe LP/P rs104894717 Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018439 p.Leu18Pro LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018440 p.Pro47Leu LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018441 p.Trp52Arg LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018442 p.Thr55Met LP/P rs147508369 Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018443 p.Ala61Glu LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018444 p.Arg62Gln LP/P rs1555841301 Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018445 p.Arg101His LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018446 p.Gly120Arg LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018447 p.Leu131Pro LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_046145 p.Ala17Pro LP/P rs782329429 Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_046146 p.Leu18Arg LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_046148 p.Ser59Phe LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_046149 p.Leu131Arg LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_055438 p.Phe21Ser LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_055439 p.Trp52Cys LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_055440 p.Ala57Pro LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_055441 p.Leu64Pro LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_055442 p.Thr76Pro LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_055444 p.Gly127Glu LP/P rs786200936 Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_055445 p.Ala135Thr LP/P - Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] RPS19BP1 Q86WX3 VAR_051330 p.Glu124Ala LB/B rs17001278 - RPS23 P62266 VAR_079133 p.Arg67Lys LP/P rs1060505034 Brachycephaly, trichomegaly, and developmental delay (BTDD) [MIM:617412] RPS23 P62266 VAR_079134 p.Phe120Ile LP/P rs1060505035 Brachycephaly, trichomegaly, and developmental delay (BTDD) [MIM:617412] RPS26 P62854 VAR_063580 p.Asp33Asn LP/P rs267607023 Diamond-Blackfan anemia 10 (DBA10) [MIM:613309] RPS26 P62854 VAR_063581 p.Met115Thr LP/P - Diamond-Blackfan anemia 10 (DBA10) [MIM:613309] RPS29 P62273 VAR_071328 p.Ile31Phe LP/P rs587777568 Diamond-Blackfan anemia 13 (DBA13) [MIM:615909] RPS29 P62273 VAR_071329 p.Ile50Thr LP/P rs587777569 Diamond-Blackfan anemia 13 (DBA13) [MIM:615909] RPS6 P62753 VAR_025314 p.Lys221Arg LB/B rs17852447 - RPS6KA1 Q15418 VAR_021864 p.Lys335Thr LB/B rs2229712 - RPS6KA2 Q15349 VAR_040627 p.Glu311Lys US rs267600891 A metastatic melanoma sample RPS6KA2 Q15349 VAR_040628 p.Arg732Gln US rs376029388 A colorectal adenocarcinoma sample RPS6KA3 P51812 VAR_006188 p.Ile38Ser LB/B rs56218010 - RPS6KA3 P51812 VAR_006189 p.Gly75Val LP/P rs122454124 Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_006190 p.Val82Phe LP/P rs122454126 Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_006191 p.Arg114Trp LP/P rs122454127 Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_006192 p.His127Gln LP/P - Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_006193 p.Asp154Tyr LP/P - Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_006194 p.Ala225Val LP/P rs879027948 Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_006195 p.Ser227Ala LP/P rs122454125 Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_006196 p.Gly431Asp LP/P - Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_006197 p.Arg729Gln LP/P rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_035627 p.Ile416Val US rs148050184 A breast cancer sample RPS6KA3 P51812 VAR_040629 p.Tyr483Cys US rs1271090915 A gastric adenocarcinoma sample RPS6KA3 P51812 VAR_040630 p.Leu608Phe US - A glioblastoma multiforme sample RPS6KA3 P51812 VAR_040631 p.Arg723Cys LB/B rs35026425 - RPS6KA3 P51812 VAR_065892 p.Thr115Ser LP/P rs387906703 Intellectual developmental disorder, X-linked 19 (XLID19) [MIM:300844] RPS6KA3 P51812 VAR_065894 p.Ile189Lys LP/P rs122454130 Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_065896 p.Phe268Ser LP/P rs122454131 Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_065897 p.Arg383Trp LP/P rs122454129 Intellectual developmental disorder, X-linked 19 (XLID19) [MIM:300844] RPS6KA4 O75676 VAR_040632 p.Ser236Leu US rs746466314 A breast infiltrating ductal carcinoma sample RPS6KA4 O75676 VAR_040633 p.Ser758Ala LB/B rs17857342 - RPS6KA5 O75582 VAR_040634 p.Asp554Asn LB/B rs55911249 - RPS6KA5 O75582 VAR_040635 p.Pro574Leu LB/B rs34604933 - RPS6KA5 O75582 VAR_040636 p.Tyr599Cys LB/B rs55968863 - RPS6KA5 O75582 VAR_051634 p.His190Arg LB/B rs34699345 - RPS6KA6 Q9UK32 VAR_030670 p.Asp692Asn LB/B rs6616890 - RPS6KA6 Q9UK32 VAR_040637 p.Tyr140Cys US - A lung large cell carcinoma sample RPS6KA6 Q9UK32 VAR_040638 p.Ser258Thr US - A lung adenocarcinoma sample RPS6KB1 P23443 VAR_035628 p.Gly289Glu US - A colorectal cancer sample RPS6KB1 P23443 VAR_040639 p.Met225Ile LB/B - - RPS6KB1 P23443 VAR_040640 p.Arg272Cys LB/B rs766645749 - RPS6KB1 P23443 VAR_040641 p.Trp276Cys LB/B - - RPS6KB1 P23443 VAR_040642 p.Ser398Ala LB/B - - RPS6KB2 Q9UBS0 VAR_040643 p.Pro267Leu LB/B rs55987642 - RPS6KB2 Q9UBS0 VAR_040644 p.Val368Met LB/B rs55642995 - RPS6KB2 Q9UBS0 VAR_040645 p.Ala420Val LB/B rs13859 - RPS6KB2 Q9UBS0 VAR_040646 p.Thr443Met US rs374535834 An ovarian mucinous carcinoma sample RPS6KC1 Q96S38 VAR_040647 p.Pro42Thr LB/B rs56087470 - RPS6KC1 Q96S38 VAR_040648 p.Glu96Lys LB/B rs56032860 - RPS6KC1 Q96S38 VAR_040649 p.Pro319Leu LB/B rs56369827 - RPS6KC1 Q96S38 VAR_040650 p.Pro424Leu LB/B rs56183862 - RPS6KC1 Q96S38 VAR_040651 p.Ala546Pro LB/B rs35281247 - RPS6KC1 Q96S38 VAR_040652 p.Leu554Ile US - A lung neuroendocrine carcinoma sample RPS6KC1 Q96S38 VAR_040653 p.Asn575Ser LB/B rs56060894 - RPS6KC1 Q96S38 VAR_040654 p.Gly663Ala US - An ovarian mucinous carcinoma sample RPS6KC1 Q96S38 VAR_040655 p.Leu853Phe LB/B rs34080597 - RPS6KC1 Q96S38 VAR_040656 p.Cys1003Tyr US - A lung adenocarcinoma sample RPS6KC1 Q96S38 VAR_040657 p.Glu1022Lys US - A breast infiltrating ductal carcinoma sample RPS6KC1 Q96S38 VAR_051635 p.Pro561Arg LB/B rs17020314 - RPS6KL1 Q9Y6S9 VAR_041065 p.Arg21Gln LB/B rs7156590 - RPS6KL1 Q9Y6S9 VAR_041066 p.Pro121Leu LB/B rs2286913 - RPS6KL1 Q9Y6S9 VAR_041067 p.Arg332Trp LB/B rs55871101 - RPS8 P62241 VAR_051861 p.Arg110Gly LB/B rs11537870 - RPS9 P46781 VAR_036543 p.Val137Phe US - A breast cancer sample RPSA P08865 VAR_025522 p.Arg117Trp LB/B rs17856150 - RPSA P08865 VAR_075092 p.Thr54Asn LP/P rs397514762 Asplenia, isolated congenital (ICAS) [MIM:271400] RPSA P08865 VAR_075093 p.Leu58Phe LP/P rs397514763 Asplenia, isolated congenital (ICAS) [MIM:271400] RPSA P08865 VAR_075094 p.Arg180Gly LP/P rs397514760 Asplenia, isolated congenital (ICAS) [MIM:271400] RPSA P08865 VAR_075095 p.Arg180Trp LP/P rs397514760 Asplenia, isolated congenital (ICAS) [MIM:271400] RPSA P08865 VAR_075096 p.Met185Val LB/B rs1214087389 - RPSA P08865 VAR_075097 p.Arg186Cys LP/P rs397514761 Asplenia, isolated congenital (ICAS) [MIM:271400] RPSA P08865 VAR_075098 p.Val257Gly LB/B rs369708612 - RPSA P08865 VAR_075099 p.Ala278Thr LB/B rs143085301 - RPTN Q6XPR3 VAR_059177 p.Ser320Gly LB/B rs12117644 - RPUSD1 Q9UJJ7 VAR_034883 p.Glu124Gln LB/B rs2272898 - RPUSD1 Q9UJJ7 VAR_034884 p.Leu247Pro LB/B rs3751672 - RPUSD3 Q6P087 VAR_034885 p.Asp34His LB/B rs17855991 - RPUSD3 Q6P087 VAR_034886 p.Ala181Pro LB/B rs34244989 - RPUSD3 Q6P087 VAR_059763 p.Ala173Pro LB/B rs34244989 - RPUSD4 Q96CM3 VAR_034887 p.Gln44Arg LB/B rs2282580 - RPUSD4 Q96CM3 VAR_034888 p.Asp58Gly LB/B rs35468281 - RPUSD4 Q96CM3 VAR_034889 p.Glu155Asp LB/B rs34809853 - RPUSD4 Q96CM3 VAR_034890 p.Ala209Val LB/B rs35157957 - RRAD P55042 VAR_049497 p.Gln66Pro LB/B rs7198458 - RRAGC Q9HB90 VAR_076511 p.Ser75Tyr US - - RRAGC Q9HB90 VAR_088360 p.Lys74Arg US - - RRAGC Q9HB90 VAR_088361 p.Ser75Phe US - - RRAGC Q9HB90 VAR_088362 p.Ser75Asn US - - RRAGC Q9HB90 VAR_088363 p.Thr90Asn US - - RRAGC Q9HB90 VAR_088364 p.Ile99Phe US - - RRAGC Q9HB90 VAR_088365 p.Trp115Arg US - - RRAGC Q9HB90 VAR_088366 p.Asp116Gly US - - RRAGC Q9HB90 VAR_088367 p.Pro118Leu US - - RRAGD Q9NQL2 VAR_087904 p.Ser76Leu LP/P - Hypomagnesemia 7, renal, with or without dilated cardiomyopathy (HOMG7) [MIM:620152] RRAGD Q9NQL2 VAR_087905 p.Ser76Trp LP/P - Hypomagnesemia 7, renal, with or without dilated cardiomyopathy (HOMG7) [MIM:620152] RRAGD Q9NQL2 VAR_087906 p.Thr97Pro LP/P - Hypomagnesemia 7, renal, with or without dilated cardiomyopathy (HOMG7) [MIM:620152] RRAGD Q9NQL2 VAR_087907 p.Pro119Leu LP/P - Hypomagnesemia 7, renal, with or without dilated cardiomyopathy (HOMG7) [MIM:620152] RRAGD Q9NQL2 VAR_087908 p.Pro119Arg LP/P - Hypomagnesemia 7, renal, with or without dilated cardiomyopathy (HOMG7) [MIM:620152] RRAGD Q9NQL2 VAR_087909 p.Ile221Lys LP/P - Hypomagnesemia 7, renal, with or without dilated cardiomyopathy (HOMG7) [MIM:620152] RRAS2 P62070 VAR_006848 p.Gln72Leu LP/P rs113954997 Noonan syndrome 12 (NS12) [MIM:618624] RRAS2 P62070 VAR_083149 p.Gly23Val LP/P rs1591495779 Noonan syndrome 12 (NS12) [MIM:618624] RRAS2 P62070 VAR_083152 p.Ala70Thr LP/P rs782457908 Noonan syndrome 12 (NS12) [MIM:618624] RRAS2 P62070 VAR_083153 p.Gln72His LP/P - Noonan syndrome 12 (NS12) [MIM:618624] RRAS2 P62070 VAR_083154 p.Phe75Cys US - - RRBP1 Q9P2E9 VAR_056982 p.Arg1324Leu LB/B rs1132274 - RREB1 Q92766 VAR_033197 p.Gly195Arg LB/B rs1334576 - RREB1 Q92766 VAR_033198 p.Gly783Val LB/B rs9502564 - RREB1 Q92766 VAR_033199 p.Asp1171Asn LB/B rs9379084 - RREB1 Q92766 VAR_033200 p.Gly1384Arg LB/B rs2281833 - RREB1 Q92766 VAR_033201 p.Leu1467Pro LB/B rs2256596 - RREB1 Q92766 VAR_033202 p.Ser1499Tyr LB/B rs35742417 - RRM1 P23921 VAR_052052 p.Lys590Gln LB/B rs2228123 - RRM1 P23921 VAR_052053 p.Val778Ala LB/B rs2229196 - RRM2B Q7LG56 VAR_025699 p.Val115Leu US - Colorectal adenocarcinomas cell line RRM2B Q7LG56 VAR_046217 p.Trp64Arg LP/P rs515726182 Mitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075] RRM2B Q7LG56 VAR_046219 p.Glu194Gly LP/P rs515726191 Mitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075] RRM2B Q7LG56 VAR_046220 p.Glu194Lys LP/P rs121918308 Mitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075] RRM2B Q7LG56 VAR_046221 p.Ile224Ser LP/P rs515726196 Mitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075] RRM2B Q7LG56 VAR_046222 p.Cys236Phe LP/P rs121918309 Mitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075] RRM2B Q7LG56 VAR_046223 p.Met282Ile LP/P rs182614164 Mitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075] RRM2B Q7LG56 VAR_046224 p.Leu317Val LP/P rs515726198 Mitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075] RRM2B Q7LG56 VAR_065122 p.Arg110His LP/P rs267607025 Mitochondrial DNA depletion syndrome 8B (MTDPS8B) [MIM:612075] RRM2B Q7LG56 VAR_065123 p.Arg121His LP/P rs267607024 Mitochondrial DNA depletion syndrome 8B (MTDPS8B) [MIM:612075] RRM2B Q7LG56 VAR_076280 p.Pro33Ser US rs387906892 - RRM2B Q7LG56 VAR_086956 p.Glu262Asp LP/P rs1810682433 Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction (RCDFRD) [MIM:268315] RRN3 Q9NYV6 VAR_051886 p.Ile348Met LB/B rs2941256 - RRP1 P56182 VAR_053894 p.Ile194Val LB/B rs34224504 - RRP1 P56182 VAR_053895 p.Lys326Arg LB/B rs915770 - RRP12 Q5JTH9 VAR_057756 p.Gly1145Ser LB/B rs2275580 - RRP12 Q5JTH9 VAR_057757 p.Arg1281Gln LB/B rs1048445 - RRP15 Q9Y3B9 VAR_030112 p.Lys149Asn LB/B rs11118075 - RRP15 Q9Y3B9 VAR_030113 p.Lys230Arg LB/B rs3737978 - RRP15 Q9Y3B9 VAR_053813 p.Ala32Val LB/B rs34358288 - RRP1B Q14684 VAR_079135 p.Leu436Pro LB/B rs9306160 - RRP36 Q96EU6 VAR_027786 p.Ala78Gly LB/B rs3749903 - RRP7A Q9Y3A4 VAR_052227 p.Leu75Met LB/B rs8139383 - RRP7A Q9Y3A4 VAR_052228 p.Val85Ile LB/B rs1812240 - RRP7A Q9Y3A4 VAR_052229 p.Val88Ile LB/B rs11553441 - RRP7A Q9Y3A4 VAR_086134 p.Trp155Cys LP/P rs1356719738 Microcephaly 28, primary, autosomal recessive (MCPH28) [MIM:619453] RRP8 O43159 VAR_051034 p.Ala145Pro LB/B rs11040934 - RRP8 O43159 VAR_051035 p.Pro329Ser LB/B rs17834692 - RRP9 O43818 VAR_035887 p.Arg8Gly US rs1333637065 A breast cancer sample RRP9 O43818 VAR_035888 p.Ala342Glu US - A breast cancer sample RRS1 Q15050 VAR_020484 p.Arg191Leu LB/B rs3739336 - RRS1 Q15050 VAR_051887 p.Gln116His LB/B rs34077648 - RRS1 Q15050 VAR_051888 p.Lys126Arg LB/B rs3739335 - RS1 O15537 VAR_008180 p.Glu72Asp LP/P rs104894932 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008181 p.Glu72Lys LP/P rs104894928 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008182 p.Gly74Val LP/P rs104894933 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008183 p.Trp96Arg LP/P rs61752063 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008184 p.Arg102Trp LP/P rs61752067 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008185 p.Gly109Arg LP/P rs104894934 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008209 p.Leu12His LP/P rs62645879 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008210 p.Leu13Pro LP/P rs104894935 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008211 p.Cys59Ser LP/P rs62645889 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008212 p.Tyr65Cys LP/P rs62645892 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008213 p.Gly70Ala LP/P - Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008214 p.Gly70Ser LP/P rs62645894 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008215 p.Tyr89Cys LP/P rs61752060 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008216 p.Ala98Glu LP/P rs61752065 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008217 p.Arg102Gln LP/P rs61752068 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008218 p.Leu103Arg LP/P rs61752069 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008219 p.Phe108Cys LP/P rs61752072 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008220 p.Gly109Glu LP/P rs281865345 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008221 p.Gly109Trp LP/P rs104894934 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008222 p.Cys110Tyr LP/P rs61752075 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008223 p.Trp112Cys LP/P rs61752144 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008224 p.Leu113Phe LP/P rs61752145 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008225 p.Leu127Pro LP/P rs61752149 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008226 p.Gly135Val LP/P rs61752152 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008227 p.Ile136Thr LP/P rs61752153 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008228 p.Thr138Ala LP/P rs61752154 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008229 p.Gly140Glu LP/P rs61752157 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008230 p.Gly140Arg LP/P rs61752156 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008231 p.Arg141Cys LP/P rs61752158 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008232 p.Arg141Gly LP/P rs61752158 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008233 p.Arg141His LP/P rs61752159 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008234 p.Cys142Trp LP/P rs1800001 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008235 p.Asp143Val LP/P rs61753161 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008236 p.Glu146Asp LP/P rs61753163 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008237 p.Glu146Lys LP/P rs61753162 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008238 p.Tyr155Cys LP/P rs61753165 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008239 p.Asp158Asn LB/B rs1800002 - RS1 O15537 VAR_008240 p.Trp163Cys LP/P rs61753166 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008241 p.Gly178Asp LP/P rs61753169 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008242 p.Arg182Cys LP/P rs61753171 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008243 p.Pro192Arg LP/P rs61753175 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008244 p.Pro192Ser LP/P rs61753174 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008245 p.Pro193Leu LP/P rs281865352 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008246 p.Pro193Ser LP/P rs281865351 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008247 p.Arg197Cys LP/P rs281865354 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008248 p.Arg197His LP/P rs281865355 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008249 p.Ile199Thr LP/P rs281865356 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008251 p.Arg200Cys LP/P rs281865357 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008252 p.Arg200His LP/P rs281865358 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008253 p.Pro203Leu LP/P rs104894930 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008254 p.His207Gln LP/P rs281865360 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008255 p.Arg209His LP/P rs281865362 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008256 p.Arg213Trp LP/P rs281865365 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008257 p.Glu215Lys LP/P rs281865367 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008258 p.Glu215Gln LP/P rs281865367 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008259 p.Leu216Pro LP/P rs281865368 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008260 p.Cys219Gly LP/P rs281865369 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008261 p.Cys219Arg LP/P rs281865369 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008262 p.Cys223Arg LP/P rs104894929 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_012078 p.Lys222Asn LB/B rs1800004 - RS1 O15537 VAR_065326 p.Ser73Pro LP/P rs62645899 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_065327 p.Asp145His LP/P - Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_065328 p.Arg156Gly LP/P - Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_065329 p.Pro192Leu LP/P - Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_065330 p.Arg209Cys LP/P rs281865361 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_065331 p.Arg213Gln LP/P rs281865364 Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_080439 p.Glu72Gly LP/P - Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_080440 p.Trp206Cys LP/P - Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] RSAD1 Q9HA92 VAR_031777 p.Ala119Thr LB/B rs2290862 - RSAD1 Q9HA92 VAR_031778 p.Leu126Ser LB/B rs2290861 - RSAD1 Q9HA92 VAR_061126 p.Glu354Gln LB/B rs9891176 - RSAD2 Q8WXG1 VAR_036980 p.Leu42Arg LB/B rs17851586 - RSAD2 Q8WXG1 VAR_053974 p.Val52Ile LB/B rs2305257 - RSC1A1 Q92681 VAR_039679 p.Phe62Leu LB/B rs3766163 - RSC1A1 Q92681 VAR_039680 p.Cys191Trp LB/B rs34091519 - RSC1A1 Q92681 VAR_039681 p.Asn271Ser LB/B rs3738648 - RSF1 Q96T23 VAR_020885 p.Ser475Pro LB/B rs7950873 - RSF1 Q96T23 VAR_061741 p.Glu304Asp LB/B rs58758035 - RSPH1 Q8WYR4 VAR_070564 p.Gly103Asp LP/P rs587777060 Ciliary dyskinesia, primary, 24 (CILD24) [MIM:615481] RSPH10B2 B2RC85 VAR_037357 p.Glu836Lys LB/B rs17855578 - RSPH14 Q9UHP6 VAR_015443 p.Thr42Met LB/B rs35211242 - RSPH3 Q86UC2 VAR_037720 p.Asn201Ser LB/B rs16889320 - RSPH3 Q86UC2 VAR_037721 p.Arg213Gln LB/B rs34582178 - RSPH3 Q86UC2 VAR_037722 p.Arg398Gln LB/B rs10455840 - RSPH3 Q86UC2 VAR_037723 p.Met439Thr LB/B rs768994 - RSPH3 Q86UC2 VAR_037724 p.Glu484Lys LB/B rs12204826 - RSPH3 Q86UC2 VAR_037725 p.Gly518Asp LB/B rs3756987 - RSPH4A Q5TD94 VAR_037715 p.Thr149Ser LB/B rs13213314 - RSPH4A Q5TD94 VAR_037716 p.Arg556His LB/B rs6927567 - RSPH4A Q5TD94 VAR_037717 p.Leu589Pro LB/B rs784133 - RSPH4A Q5TD94 VAR_037718 p.Asn627His LB/B rs9488991 - RSPH4A Q5TD94 VAR_037719 p.Ala700Val LB/B rs9488992 - RSPH4A Q5TD94 VAR_055235 p.Pro87Ser LP/P rs767490154 Ciliary dyskinesia, primary, 11 (CILD11) [MIM:612649] RSPH4A Q5TD94 VAR_070565 p.Gly464Glu US rs753041231 Ciliary dyskinesia, primary, 11 (CILD11) [MIM:612649] RSPH6A Q9H0K4 VAR_037560 p.Ala50Val LB/B rs12459916 - RSPH9 Q9H1X1 VAR_050815 p.Val261Ile LB/B rs16896629 - RSPO2 Q6UXX9 VAR_026247 p.Leu186Pro LB/B rs601558 - RSPO2 Q6UXX9 VAR_081036 p.Arg69Cys LP/P rs758888137 Humerofemoral hypoplasia with radiotibial ray deficiency (HHRRD) [MIM:618022] RSPO4 Q2I0M5 VAR_030399 p.Gln65Arg LP/P rs74315420 Nail disorder, non-syndromic congenital, 4 (NDNC4) [MIM:206800] RSPO4 Q2I0M5 VAR_030400 p.Cys95Phe LP/P rs780506366 Nail disorder, non-syndromic congenital, 4 (NDNC4) [MIM:206800] RSPO4 Q2I0M5 VAR_030401 p.Cys107Arg LP/P rs74315421 Nail disorder, non-syndromic congenital, 4 (NDNC4) [MIM:206800] RSPO4 Q2I0M5 VAR_030402 p.Cys118Tyr LP/P rs74315422 Nail disorder, non-syndromic congenital, 4 (NDNC4) [MIM:206800] RSPO4 Q2I0M5 VAR_052665 p.Arg106Gln LB/B rs6140807 - RSPRY1 Q96DX4 VAR_075873 p.Gly41Cys LP/P rs864309652 Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type (SEMDFA) [MIM:616723] RSRC2 Q7L4I2 VAR_038133 p.His88Arg LB/B rs17886684 - RSRP1 Q9BUV0 VAR_034655 p.Tyr147His LB/B rs34619962 - RSRP1 Q9BUV0 VAR_034656 p.Glu239Gly LB/B rs1043879 - RTBDN Q9BSG5 VAR_049053 p.Gly198Ala LB/B rs13628 - RTCB Q9Y3I0 VAR_028853 p.Leu343Phe LB/B rs17849275 - RTCB Q9Y3I0 VAR_052485 p.Val153Ala LB/B rs11545747 - RTEL1 Q9NZ71 VAR_054970 p.Asn124Ser LB/B rs3848668 - RTEL1 Q9NZ71 VAR_054971 p.Gln1042His LB/B rs3208008 - RTEL1 Q9NZ71 VAR_069714 p.Glu251Lys LP/P rs398123019 Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] RTEL1 Q9NZ71 VAR_069715 p.Met492Ile LP/P rs370343781 Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] RTEL1 Q9NZ71 VAR_069716 p.Glu591Asp LP/P rs398123051 Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] RTEL1 Q9NZ71 VAR_069717 p.Ala621Thr LP/P rs398123052 Dyskeratosis congenita, autosomal dominant, 4 (DKCA4) [MIM:615190] RTEL1 Q9NZ71 VAR_069718 p.Arg684Gln LB/B rs35640778 - RTEL1 Q9NZ71 VAR_069719 p.Ile699Met LP/P rs398123048 Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] RTEL1 Q9NZ71 VAR_069720 p.Leu710Arg LP/P - Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] RTEL1 Q9NZ71 VAR_069721 p.Gly739Val LP/P rs398123016 Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] RTEL1 Q9NZ71 VAR_069722 p.Val745Met LP/P rs398123049 Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] RTEL1 Q9NZ71 VAR_069723 p.Gln829Pro LB/B - - RTEL1 Q9NZ71 VAR_069724 p.Gly849Asp LB/B rs190887884 - RTEL1 Q9NZ71 VAR_069725 p.Lys897Glu LP/P - Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] RTEL1 Q9NZ71 VAR_069726 p.Ala929Thr LB/B rs61736615 - RTEL1 Q9NZ71 VAR_069727 p.Arg957Trp LP/P rs398123018 Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] RTEL1 Q9NZ71 VAR_069728 p.Phe964Leu LP/P rs1470145133 Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] RTEL1 Q9NZ71 VAR_069729 p.Pro1034His LB/B rs115610405 - RTEL1 Q9NZ71 VAR_069730 p.Ala1059Thr LB/B rs115303435 - RTEL1 Q9NZ71 VAR_073795 p.Pro484Leu LP/P rs786205700 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 3 (PFBMFT3) [MIM:616373] RTEL1 Q9NZ71 VAR_073796 p.Pro647Leu LP/P rs1177091623 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 3 (PFBMFT3) [MIM:616373] RTEL1 Q9NZ71 VAR_073797 p.His1124Pro LP/P rs786205702 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 3 (PFBMFT3) [MIM:616373] RTF2 Q9BY42 VAR_028134 p.Thr159Ala LB/B rs6024909 - RTF2 Q9BY42 VAR_028135 p.Met171Val LB/B rs1059768 - RTKN2 Q8IZC4 VAR_050516 p.Lys101Thr LB/B rs3765004 - RTKN2 Q8IZC4 VAR_050517 p.His462Arg LB/B rs3125734 - RTL1 A6NKG5 VAR_043937 p.Glu848Gln LB/B rs11623267 - RTL10 Q7L3V2 VAR_034590 p.Arg116His LB/B rs17745302 - RTL10 Q7L3V2 VAR_034591 p.Asp123Tyr LB/B rs34027839 - RTL3 Q8N8U3 VAR_053752 p.Pro117Ser LB/B rs4077512 - RTL4 Q6ZR62 VAR_028917 p.Leu27Pro LB/B rs6568050 - RTL4 Q6ZR62 VAR_053756 p.Asp162Tyr LB/B rs7474140 - RTL5 Q5HYW3 VAR_051319 p.Ser420Arg LB/B rs6624595 - RTL8A Q9BWD3 VAR_060162 p.Ser48Cys LB/B rs2498776 - RTL8C A6ZKI3 VAR_053975 p.Ser60Asn LB/B rs1056977 - RTL8C O15255 VAR_037283 p.Ser152Trp LB/B rs5930670 - RTL9 Q8NET4 VAR_051318 p.Pro777Ser LB/B rs35495390 - RTN1 Q16799 VAR_053630 p.Gly247Glu LB/B rs35645652 - RTN1 Q16799 VAR_053631 p.Ile357Val LB/B rs35707243 - RTN2 O75298 VAR_053632 p.Arg425Gln LB/B rs35461805 - RTN2 O75298 VAR_067562 p.Ser367Phe LP/P rs140494585 Spastic paraplegia 12, autosomal dominant (SPG12) [MIM:604805] RTN3 O95197 VAR_031164 p.Ala6Glu LB/B rs11551944 - RTN3 O95197 VAR_057713 p.Asp501His LB/B rs7936660 - RTN4 Q9NQC3 VAR_035904 p.Leu429Val US - A colorectal cancer sample RTN4 Q9NQC3 VAR_053633 p.Asp357Val LB/B rs11677099 - RTN4 Q9NQC3 VAR_053634 p.Glu899Gln LB/B rs6757519 - RTN4 Q9NQC3 VAR_053635 p.Ser920Cys LB/B rs6757705 - RTN4IP1 Q8WWV3 VAR_076369 p.Arg103His LP/P rs372054380 Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures (OPA10) [MIM:616732] RTN4R Q9BZR6 VAR_079154 p.Arg119Trp LP/P rs74315508 Schizophrenia (SCZD) [MIM:181500] RTN4R Q9BZR6 VAR_079155 p.Arg196His LP/P rs74315509 Schizophrenia (SCZD) [MIM:181500] RTN4R Q9BZR6 VAR_079224 p.Val53Met LB/B rs145292678 - RTN4R Q9BZR6 VAR_079225 p.Arg68His LB/B rs145773589 - RTN4R Q9BZR6 VAR_079226 p.Gly141Ser LB/B rs760855779 - RTN4R Q9BZR6 VAR_079227 p.Arg227Cys US rs754793885 Schizophrenia (SCZD) [MIM:181500] RTN4R Q9BZR6 VAR_079228 p.Arg227His LB/B rs576939822 - RTN4R Q9BZR6 VAR_079229 p.Asp259Asn LB/B rs3747073 - RTN4R Q9BZR6 VAR_079230 p.Val263Met LB/B rs752810777 - RTN4R Q9BZR6 VAR_079231 p.Arg292His LP/P rs1432033565 Schizophrenia (SCZD) [MIM:181500] RTN4R Q9BZR6 VAR_079232 p.Gly314Ser LB/B rs112151786 - RTN4R Q9BZR6 VAR_079233 p.Pro329Leu LB/B rs757507039 - RTN4R Q9BZR6 VAR_079234 p.Val363Met LB/B rs149231717 - RTN4R Q9BZR6 VAR_079235 p.Arg377Gln LP/P rs779384862 Schizophrenia (SCZD) [MIM:181500] RTN4R Q9BZR6 VAR_079236 p.Arg377Trp LP/P rs748655075 Schizophrenia (SCZD) [MIM:181500] RTN4R Q9BZR6 VAR_079237 p.Arg399Trp US rs200119628 Schizophrenia (SCZD) [MIM:181500] RTP1 P59025 VAR_036122 p.Arg124Ser US - A breast cancer sample RTP1 P59025 VAR_053729 p.Ala212Gly LB/B rs35053281 - RTP1 P59025 VAR_053730 p.Gln229Glu LB/B rs6764714 - RTP2 Q5QGT7 VAR_021488 p.Gln82Arg LB/B rs11707167 - RTP4 Q96DX8 VAR_057732 p.Thr79Ile LB/B rs1047584 - RTP4 Q96DX8 VAR_057733 p.Ser168Asn LB/B rs35224605 - RTP5 Q14D33 VAR_060791 p.Gly101Glu LB/B rs7420371 - RTP5 Q14D33 VAR_069402 p.Gly412Asp LB/B - - RTTN Q86VV8 VAR_036848 p.Ser126Ala LB/B rs3911730 - RTTN Q86VV8 VAR_036849 p.Lys245Arg LB/B rs17082206 - RTTN Q86VV8 VAR_036850 p.His1742Arg LB/B rs285227 - RTTN Q86VV8 VAR_036851 p.Phe1761Ser LB/B rs4891392 - RTTN Q86VV8 VAR_069094 p.Cys27Tyr LP/P rs201884120 Microcephaly, short stature, and polymicrogyria with or without seizures (MSSP) [MIM:614833] RTTN Q86VV8 VAR_069095 p.Leu932Phe LP/P rs318240757 Microcephaly, short stature, and polymicrogyria with or without seizures (MSSP) [MIM:614833] RUBCNL Q9H714 VAR_022912 p.Gly152Arg LB/B rs1408184 - RUFY1 Q96T51 VAR_035985 p.Cys267Phe US - A breast cancer sample RUFY1 Q96T51 VAR_051327 p.His298Gln LB/B rs6879322 - RUFY2 Q8WXA3 VAR_060318 p.Cys573Ser LB/B rs11816774 - RUNDC1 Q96C34 VAR_031760 p.Val4Ile LB/B rs17853899 - RUNDC1 Q96C34 VAR_031761 p.Trp160Arg LB/B rs1708875 - RUNDC1 Q96C34 VAR_031762 p.Leu397Met LB/B rs17857183 - RUNDC1 Q96C34 VAR_051328 p.Glu566Lys LB/B rs3744241 - RUNDC3B Q96NL0 VAR_043473 p.Leu47Met LB/B rs17852065 - RUNDC3B Q96NL0 VAR_043474 p.Glu206Gly LB/B rs17852063 - RUNDC3B Q96NL0 VAR_043475 p.Leu440Pro LB/B rs17856673 - RUNX1 Q01196 VAR_012128 p.Arg139Gln LP/P rs1060499616 Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399] RUNX1 Q01196 VAR_012129 p.Arg174Gln LP/P rs74315450 Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399] RUNX1 Q01196 VAR_013177 p.Ser431Arg LB/B rs1055308 - RUNX1 Q01196 VAR_013178 p.Ser433Arg LB/B rs1055309 - RUNX1T1 Q06455 VAR_036321 p.Arg386Trp US rs1301792645 A colorectal cancer sample RUNX1T1 Q06455 VAR_036322 p.Arg395Trp US rs1448417558 A colorectal cancer sample RUNX1T1 Q06455 VAR_036323 p.Ala471Val US rs1462140811 A colorectal cancer sample RUNX2 Q13950 VAR_012132 p.Leu113Arg LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012133 p.Ser118Arg LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012134 p.Phe121Cys LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012135 p.Cys123Arg LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012137 p.Arg169Gln LP/P rs104893995 Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012138 p.Met175Arg LP/P rs104893989 Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012139 p.Arg190Gln LP/P rs1057521068 Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012140 p.Arg190Trp LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012141 p.Ser191Asn LP/P rs104893990 Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012142 p.Arg193Cys LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012143 p.Phe197Ser LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012144 p.Leu199Phe LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012145 p.Thr200Ala LP/P rs104893993 Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012146 p.Thr205Arg LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012147 p.Gln209Arg LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012148 p.Arg225Gln LP/P rs104893991 Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012149 p.Arg225Trp LP/P rs104893992 Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_012150 p.Gly511Ser LB/B rs11498198 - RUNX2 Q13950 VAR_064081 p.Gln53Leu LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064082 p.Ser118Asn LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064083 p.Arg131Cys LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064084 p.Arg131Gly LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064085 p.Arg131Ser LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064086 p.Leu136Pro LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064087 p.Val156Asp LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064088 p.Val156Gly LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064089 p.Arg169Pro LP/P rs104893995 Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064090 p.Met175Lys LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064091 p.Met175Val LP/P rs201647225 Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064092 p.Phe187Ser LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064093 p.Arg193Gln LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064094 p.Thr200Ile LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064095 p.Ile201Lys LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064096 p.Gln209His LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064097 p.Ala211Pro LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064098 p.Lys218Glu LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064099 p.Lys218Asn LP/P rs752933596 Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064100 p.Lys218Gln LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064101 p.Thr220Ile LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064102 p.Arg225Leu LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064103 p.Arg228Gly LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064104 p.Lys233Arg LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064105 p.Asp287Asn LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064106 p.Ala362Val LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064107 p.Thr420Ile LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_064108 p.Thr420Asn LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_079577 p.Arg186Thr LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUNX2 Q13950 VAR_079578 p.Arg193Gly LP/P - Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] RUSC1 Q9BVN2 VAR_036803 p.Ser362Phe LB/B rs12061020 - RUSC1 Q9BVN2 VAR_051329 p.Val493Ala LB/B rs35826120 - RUSC1-AS1 Q66K80 VAR_050704 p.Arg231Ser LB/B rs16836822 - RUSC2 Q8N2Y8 VAR_034653 p.Thr73Ala LB/B rs1535422 - RUSC2 Q8N2Y8 VAR_034654 p.Pro654Leu LB/B rs3750427 - RUSF1 Q96GQ5 VAR_031439 p.Tyr185Cys LB/B rs17855405 - RUSF1 Q96GQ5 VAR_036485 p.Gly43Glu US - A breast cancer sample RWDD3 Q9Y3V2 VAR_024346 p.Asn86Lys LB/B rs2296308 - RWDD3 Q9Y3V2 VAR_034420 p.Val47Ala LB/B rs259358 - RWDD4 Q6NW29 VAR_024928 p.Ile124Leu LB/B rs10015804 - RXFP2 Q8WXD0 VAR_015386 p.Thr222Pro LP/P rs121918303 Cryptorchidism (CRYPTO) [MIM:219050] RXFP2 Q8WXD0 VAR_015387 p.Ile604Val LB/B rs17076657 - RXFP4 Q8TDU9 VAR_021516 p.Leu329Ser LB/B rs2152051 - RXRA P19793 VAR_014620 p.Pro261Leu LB/B rs2234960 - RXRA P19793 VAR_014621 p.Ser336Ile LB/B rs1805345 - RXRA P19793 VAR_050582 p.Ala327Ser LB/B rs1805345 - RXRA P19793 VAR_050583 p.Ala398Val LB/B rs11542209 - RXYLT1 Q9Y2B1 VAR_069738 p.Tyr339Cys LP/P rs150736997 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 (MDDGA10) [MIM:615041] RXYLT1 Q9Y2B1 VAR_069739 p.Arg340Leu LP/P rs768721082 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 (MDDGA10) [MIM:615041] RXYLT1 Q9Y2B1 VAR_085411 p.Gly333Arg US rs777596548 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 (MDDGA10) [MIM:615041] RYK P34925 VAR_041800 p.Ser99Asn LB/B rs1131262 - RYK P34925 VAR_041801 p.Arg227Cys LB/B rs55740278 - RYK P34925 VAR_041802 p.Val243Ile US rs746238409 An ovarian mucinous carcinoma sample RYR1 P21817 VAR_005589 p.Cys35Arg LP/P rs193922747 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005590 p.Arg163Cys LP/P rs118192161 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_005590 p.Arg163Cys LP/P rs118192161 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005591 p.Gly248Arg US rs1801086 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005592 p.Gly341Arg LP/P rs121918592 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005593 p.Ile403Met LP/P rs118192116 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_005593 p.Ile403Met LP/P rs118192116 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005594 p.Arg471Cys LB/B rs1376393998 - RYR1 P21817 VAR_005595 p.Tyr522Ser LP/P rs118192162 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_005595 p.Tyr522Ser LP/P rs118192162 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005596 p.Arg552Trp LP/P rs193922770 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005597 p.Arg614Cys LP/P rs118192172 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_005597 p.Arg614Cys LP/P rs118192172 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005598 p.Arg614Leu LP/P rs193922772 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005599 p.Pro1787Leu LB/B rs34934920 - RYR1 P21817 VAR_005600 p.Gly2060Cys LB/B rs35364374 - RYR1 P21817 VAR_005601 p.Arg2163Cys LP/P rs118192175 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005602 p.Arg2163His LP/P rs118192163 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_005602 p.Arg2163His LP/P rs118192163 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005603 p.Val2168Met LP/P rs118192176 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_005603 p.Val2168Met LP/P rs118192176 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005604 p.Thr2206Met LP/P rs118192177 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005605 p.Gly2434Arg LP/P rs121918593 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005606 p.Arg2435His LP/P rs28933396 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_005606 p.Arg2435His LP/P rs28933396 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_008971 p.Arg533His LP/P rs144336148 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_008972 p.Arg2163Pro LP/P rs118192163 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_008973 p.Thr2206Arg LP/P rs118192177 King-Denborough syndrome (KDS) [MIM:619542] RYR1 P21817 VAR_008973 p.Thr2206Arg LP/P rs118192177 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_008974 p.Arg2435Leu LP/P rs28933396 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_008975 p.Arg2454Cys LP/P rs193922816 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_008976 p.Arg2454His LP/P rs118192122 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_008977 p.Arg2458Cys LP/P rs28933397 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_008978 p.Arg2458His LP/P rs121918594 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_032910 p.Arg109Trp LP/P rs118192173 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_032911 p.Met485Val LB/B rs147723844 - RYR1 P21817 VAR_032912 p.Arg1109Lys LB/B rs35719391 - RYR1 P21817 VAR_032913 p.Ser1342Gly LB/B rs34694816 - RYR1 P21817 VAR_032914 p.Ser1489Asn LB/B rs34404839 - RYR1 P21817 VAR_032915 p.Met2423Lys LP/P rs118192174 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_032916 p.Gln3756Glu LB/B rs4802584 - RYR1 P21817 VAR_045694 p.Leu13Val LP/P - Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_045695 p.Arg44Cys LP/P rs193922748 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045696 p.Glu160Gly LP/P rs193922752 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045697 p.Arg163Leu LP/P rs193922753 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045698 p.Gly165Arg LP/P rs193922754 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045699 p.Asp166Asn LP/P rs193922755 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045700 p.Arg177Cys LP/P rs193922757 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045701 p.Tyr178Cys LP/P - Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045702 p.Gly215Glu LP/P rs118192115 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_045703 p.Asp227Val LP/P rs193922760 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045704 p.Arg328Trp LP/P rs193922762 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045705 p.Arg401Cys LP/P rs193922764 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045706 p.Arg401His LP/P rs193922766 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045707 p.Arg401Ser LP/P - Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045708 p.Arg533Cys LP/P rs193922768 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045709 p.Gly1704Ser LP/P rs193922779 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_045710 p.Gly1832Ala LB/B rs193922784 - RYR1 P21817 VAR_045711 p.Met2101Lys LB/B rs746818096 - RYR1 P21817 VAR_045712 p.Val2117Leu LP/P rs193922788 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045713 p.Asp2129Glu LP/P rs117886618 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045714 p.Val2214Ile LP/P rs193922795 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045715 p.Val2280Ile LP/P rs193922797 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045716 p.Asn2342Ser LP/P rs147213895 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045717 p.Glu2344Asp US rs193922798 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045718 p.Val2346Met LP/P rs193922799 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045720 p.Glu2348Gly LP/P rs193922801 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045721 p.Ala2350Thr LP/P rs193922802 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045722 p.Arg2355Cys LP/P - Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045723 p.Ala2367Thr LP/P rs146306934 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045724 p.Ala2421Pro LP/P rs193922808 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_045725 p.Ala2428Thr LP/P rs193922809 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045726 p.Asp2431Asn LP/P rs193922810 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045727 p.Ala2437Val LP/P rs193922812 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045728 p.Arg2452Trp LP/P rs118192124 King-Denborough syndrome (KDS) [MIM:619542] RYR1 P21817 VAR_045728 p.Arg2452Trp LP/P rs118192124 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045729 p.Arg2676Trp LB/B rs193922826 - RYR1 P21817 VAR_045730 p.Thr2787Ser LB/B rs35180584 - RYR1 P21817 VAR_045731 p.Ala3118Val LB/B rs2915960 - RYR1 P21817 VAR_045732 p.Pro3527Ser LP/P rs118192164 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_045733 p.Arg3539His LP/P rs143987857 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_045734 p.Arg3772Gln LP/P rs193922839 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_045735 p.Ile3916Met LP/P rs193922840 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045736 p.Arg4136Ser LP/P rs193922849 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045738 p.Val4234Leu LP/P rs193922852 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045739 p.Arg4558Gln LP/P rs118192130 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_045740 p.Thr4637Ala LP/P rs118192166 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045741 p.Thr4637Ile LB/B rs118192134 - RYR1 P21817 VAR_045742 p.Gly4638Asp LP/P rs118192135 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045744 p.Leu4650Pro LP/P rs118192138 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_045745 p.His4651Pro LP/P rs118192139 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045746 p.Pro4668Ser LB/B rs193922863 - RYR1 P21817 VAR_045747 p.Phe4684Ser LP/P rs193922864 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045748 p.Lys4724Gln LP/P rs118192141 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_045749 p.Arg4737Gln LP/P rs193922868 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045750 p.Arg4737Trp US rs193922867 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045751 p.Leu4793Pro LP/P rs118192179 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045752 p.Tyr4796Cys LP/P rs118192167 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045753 p.Leu4814Phe LP/P rs118192142 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045754 p.Leu4824Pro LP/P rs193922874 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045755 p.Arg4825Cys LP/P rs118192180 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045756 p.Thr4826Ile LP/P rs121918595 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045757 p.Leu4838Val LP/P rs193922878 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045758 p.Val4842Met LP/P rs193922879 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_045759 p.Ala4846Val LP/P rs118192143 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_045760 p.Val4849Ile LP/P rs118192168 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_045760 p.Val4849Ile LP/P rs118192168 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045762 p.Arg4861Cys LP/P rs118192181 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045763 p.Arg4861His LP/P rs63749869 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045763 p.Arg4861His LP/P rs63749869 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045765 p.Tyr4864Cys LP/P rs118192146 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045766 p.Lys4876Arg LP/P rs113210953 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045767 p.Gly4891Arg LP/P rs118192149 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045768 p.Arg4893Gln LP/P rs118192151 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045769 p.Arg4893Trp LP/P rs118192150 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045770 p.Gly4897Val LP/P rs118192148 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045771 p.Ile4898Thr LP/P rs118192170 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045772 p.Gly4899Glu LP/P rs118192183 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045773 p.Gly4899Arg LP/P rs193922891 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045774 p.Ala4906Val LP/P rs118192153 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045775 p.Arg4914Gly LP/P rs118192184 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045776 p.Arg4914Thr LP/P rs118192154 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045778 p.Ile4938Met LP/P rs118192159 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045779 p.Asp4939Glu LP/P rs193922895 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045780 p.Ala4940Thr LP/P rs118192158 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_045781 p.Gly4942Val LP/P rs193922896 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045782 p.Pro4973Leu LP/P rs146876145 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_051890 p.Ala291Thr LB/B rs2229140 - RYR1 P21817 VAR_051891 p.Val2509Ile LB/B rs2071088 - RYR1 P21817 VAR_051892 p.Glu2779Lys LB/B rs2915952 - RYR1 P21817 VAR_058560 p.Leu13Arg LP/P rs193922744 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058561 p.Met226Lys LP/P rs112596687 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058562 p.Arg367Leu LP/P rs113332073 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058563 p.Arg530His LP/P rs111888148 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058564 p.Asp544Tyr LP/P rs113812662 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058565 p.Arg1043Cys LP/P rs111272095 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058566 p.Ala1352Gly LB/B rs112105381 - RYR1 P21817 VAR_058567 p.Ile2321Val LB/B rs34390345 - RYR1 P21817 VAR_058568 p.Arg2336His LP/P rs112563513 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058569 p.Glu2404Lys LP/P rs111364296 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058570 p.Leu2550Val LB/B rs193922821 - RYR1 P21817 VAR_058571 p.Asp2730Gly LP/P rs112196644 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058572 p.Glu2880Lys LP/P rs112772310 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058573 p.Ser3217Pro LP/P rs113422327 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058574 p.Glu3290Lys LP/P rs112151058 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058575 p.Glu3583Gln LB/B rs55876273 - RYR1 P21817 VAR_058576 p.Arg3772Trp LP/P rs763112609 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058577 p.Gly3806Arg LP/P rs111565359 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058578 p.Pro4501Leu LB/B rs73933023 - RYR1 P21817 VAR_058579 p.Ile4938Thr LP/P rs111657878 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_063846 p.Met402Thr LP/P rs118192117 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_063847 p.His2035Leu LP/P rs367543056 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_063848 p.Asn3326Lys LP/P rs367543057 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_063849 p.Cys3402Gly LP/P rs367543058 Congenital myopathy 1B, autosomal recessive (CMYP1B) [MIM:255320] RYR1 P21817 VAR_068510 p.His382Asn LP/P - Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_068511 p.Glu1058Lys LP/P rs1968107192 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_068512 p.Tyr1088Cys US - - RYR1 P21817 VAR_068513 p.Lys1393Arg US rs137933390 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_068514 p.Arg1679His LB/B rs146504767 - RYR1 P21817 VAR_068515 p.His2204Gln LP/P rs141646642 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_068516 p.Arg2508Gly LP/P rs118192178 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_068517 p.Arg3366His LP/P rs137932199 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_068518 p.Tyr3933Cys LP/P rs147136339 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_068518 p.Tyr3933Cys LP/P rs147136339 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_068519 p.Pro4493Ala LB/B rs149455643 - RYR1 P21817 VAR_068520 p.Gly4743Asp LP/P rs193922869 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_068521 p.Thr4882Met LP/P rs193922884 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_071721 p.Gly40Ala US - Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071722 p.Leu487Pro US rs1008860336 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071723 p.Val518Ala US rs1195513704 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071724 p.Asn899Lys LB/B rs201401814 - RYR1 P21817 VAR_071725 p.Val974Met LB/B rs748676912 - RYR1 P21817 VAR_071726 p.Arg975Trp US rs371278145 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_071727 p.Arg1043His US rs374776563 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071728 p.Asp1056His LP/P - Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071729 p.Asp1056Asn LP/P - Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071730 p.Arg1109Leu LB/B - - RYR1 P21817 VAR_071731 p.Arg1127His LP/P rs545579559 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071732 p.Lys1467Arg LP/P rs145573319 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071733 p.Ile1571Val LP/P rs146429605 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071734 p.Lys2013Gln LP/P - Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071735 p.Arg2248Cys LB/B rs763352221 - RYR1 P21817 VAR_071736 p.Arg2248His US rs140152019 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071738 p.Asn2351His US rs376176332 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071739 p.Val2354Met US rs746971794 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071740 p.Ile2358Leu US rs759306349 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071741 p.Ala2383Gln US - Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071742 p.Asp2400Gly LP/P rs976108591 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071743 p.Arg2593Gly LP/P rs756685891 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071744 p.Val2627Met LP/P - Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071745 p.His2976Tyr LB/B - - RYR1 P21817 VAR_071746 p.Glu3238Gly US rs200950673 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_071747 p.Pro3360Gln LB/B - - RYR1 P21817 VAR_071748 p.Pro3410Gln LP/P - Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071749 p.Asp3501Tyr LP/P rs763259167 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071750 p.Thr3711Arg US rs375915752 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071751 p.Gly4178Val US rs1568576165 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071752 p.Met4230Arg US rs1568581848 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071753 p.Gln4837Glu US rs1568604577 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_071754 p.Gly4897Ala LP/P - Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_071755 p.Ala4906Gly US rs118192153 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_075399 p.Arg2508Cys LP/P rs118192178 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_075399 p.Arg2508Cys LP/P rs118192178 King-Denborough syndrome (KDS) [MIM:619542] RYR1 P21817 VAR_075399 p.Arg2508Cys LP/P rs118192178 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_076568 p.Leu2963Pro LP/P rs756870293 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_076569 p.Asn4806Asp LP/P rs886039586 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia (CMYP1A) [MIM:117000] RYR1 P21817 VAR_077682 p.Gly2375Ala LB/B rs193922807 - RYR1 P21817 VAR_077683 p.Arg2508His LP/P rs193922818 Malignant hyperthermia 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_078775 p.Gly705Arg LB/B rs565825739 - RYR1 P21817 VAR_086256 p.Lys33Glu LP/P rs193922746 King-Denborough syndrome (KDS) [MIM:619542] RYR1 P21817 VAR_086257 p.Ser2776Phe US rs147707463 King-Denborough syndrome (KDS) [MIM:619542] RYR2 Q92736 VAR_011395 p.Leu433Pro LP/P rs121918602 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011396 p.Ser2246Leu LP/P rs121918597 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011397 p.Pro2328Ser LP/P rs121918603 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011398 p.Asn2386Ile LP/P rs121918601 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011399 p.Arg2474Ser LP/P rs121918598 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011400 p.Asn4104Lys LP/P rs121918599 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011401 p.Gln4201Arg LP/P rs121918605 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011402 p.Arg4497Cys LP/P rs121918600 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011403 p.Val4653Phe LP/P rs121918604 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011590 p.Gln2958Arg LB/B rs34967813 - RYR2 Q92736 VAR_022078 p.Gly1886Ser LB/B rs3766871 - RYR2 Q92736 VAR_023694 p.Val2306Ile LP/P rs794728746 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_023695 p.Pro4902Leu LP/P rs1475453069 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_023696 p.Arg4959Gln LP/P rs794728811 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044086 p.Pro164Ser LP/P rs764772142 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044087 p.Arg176Gln LP/P rs794728708 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044088 p.Arg414Leu LP/P rs371121679 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044089 p.Ile419Phe LP/P rs1349176732 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044090 p.Arg420Trp LP/P rs190140598 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044091 p.Val507Ile LB/B rs16835270 - RYR2 Q92736 VAR_044092 p.Glu2311Asp LP/P rs794728747 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044093 p.Ala2387Pro LP/P rs794728753 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044094 p.Tyr2392Cys LP/P rs772220753 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044095 p.Ala2403Thr LP/P rs1456929288 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044096 p.Thr2504Met LP/P rs769219555 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044097 p.Leu3778Phe LP/P rs1472508624 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044098 p.Gly3946Ser LP/P rs794728777 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044099 p.Asn4097Ser LP/P rs794728784 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044100 p.Glu4146Lys LP/P rs1349585791 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044101 p.Thr4158Pro LP/P rs1202962809 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044102 p.Phe4499Cys LP/P rs1457271141 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044103 p.Met4504Ile LP/P rs1323621379 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044104 p.Ala4510Thr LP/P rs397516510 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044105 p.Ala4607Pro LP/P rs1359163728 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044106 p.Gly4671Arg LP/P rs1188352725 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044107 p.Val4771Ile LP/P rs794728804 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044108 p.Ile4848Val LP/P rs1363298408 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044109 p.Ala4860Gly LP/P rs121918606 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (VACRDS) [MIM:115000] RYR2 Q92736 VAR_044110 p.Ile4867Met LP/P rs1218096653 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044111 p.Val4880Ala LP/P rs1242723821 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044112 p.Asn4895Asp LP/P rs1185619003 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044113 p.Glu4950Lys LP/P rs886039172 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_075283 p.His29Asp US - - RYR2 Q92736 VAR_078648 p.Gly4955Glu LB/B rs1553343100 - RYR2 Q92736 VAR_079513 p.Pro466Ala US rs376612295 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_079514 p.Cys3800Phe LP/P rs1239093704 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_079515 p.Ser4124Thr LP/P rs1385881911 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_079516 p.Gln4159Pro LP/P rs1234963411 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_079517 p.Ala4556Thr LP/P rs189345192 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] RYR2 Q92736 VAR_085649 p.Gln3774Leu LP/P - Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (VACRDS) [MIM:115000] RYR2 Q92736 VAR_085650 p.Thr4196Ile LP/P - Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (VACRDS) [MIM:115000] RYR2 Q92736 VAR_085651 p.Asp4646Ala LP/P rs1658967336 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (VACRDS) [MIM:115000] RYR2 Q92736 VAR_085652 p.Ser4938Phe LP/P - Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (VACRDS) [MIM:115000] RYR3 Q15413 VAR_011404 p.Tyr693Cys LB/B - - RYR3 Q15413 VAR_011405 p.Ile731Val LB/B rs2229116 - RYR3 Q15413 VAR_011406 p.Glu1380Gly LB/B - - RYR3 Q15413 VAR_024077 p.Arg261Ser LB/B - - RYR3 Q15413 VAR_024078 p.Val494Ile LB/B rs2077268 - RYR3 Q15413 VAR_057166 p.Ile358Thr LB/B rs2304380 - RYR3 Q15413 VAR_088349 p.Asp667Gly US - Congenital myopathy 20 (CMYP20) [MIM:620310] RYR3 Q15413 VAR_088350 p.Arg829His LB/B - - RYR3 Q15413 VAR_088351 p.Met2070Val US - Congenital myopathy 20 (CMYP20) [MIM:620310] RYR3 Q15413 VAR_088352 p.Arg2980Leu US - Congenital myopathy 20 (CMYP20) [MIM:620310] S100A3 P33764 VAR_061047 p.Arg3Lys LB/B rs36022742 - S100A5 P33763 VAR_001305 p.Asp54Gly LB/B rs3795393 - S100A6 P06703 VAR_011982 p.His27Arg LB/B rs11974 - S100A6 P06703 VAR_011983 p.Asn69Ser LB/B rs1802581 - S100A6 P06703 VAR_011984 p.Ile83Thr LB/B rs1802582 - S100A6 P06703 VAR_029281 p.Gly90Asp LB/B rs2228293 - S100A7 P31151 VAR_039118 p.Glu28Asp LB/B rs3014837 - S100A7A Q86SG5 VAR_048468 p.Ala84Thr LB/B rs3006414 - S100A7A Q86SG5 VAR_061048 p.Arg23His LB/B rs55985140 - S100A9 P06702 VAR_013008 p.His20Arg LB/B - - S100Z Q8WXG8 VAR_060484 p.Glu23Ala LB/B rs1320308 - S1PR1 P21453 VAR_046158 p.Ser15Leu LB/B rs4987250 - S1PR1 P21453 VAR_046159 p.Ala115Thr LB/B rs11542632 - S1PR1 P21453 VAR_046160 p.Pro332Arg LB/B rs7549921 - S1PR2 O95136 VAR_076391 p.Arg108Pro LP/P rs869312749 Deafness, autosomal recessive, 68 (DFNB68) [MIM:610419] S1PR2 O95136 VAR_076392 p.Tyr140Cys LP/P rs869312750 Deafness, autosomal recessive, 68 (DFNB68) [MIM:610419] S1PR3 Q99500 VAR_033465 p.Arg243Gln LB/B rs34075341 - S1PR4 O95977 VAR_022066 p.Arg365Leu LB/B rs3746072 - S1PR5 Q9H228 VAR_033466 p.Leu318Gln LB/B rs35483143 - SAA1 P0DJI8 VAR_006925 p.Gly15Ser LB/B rs1232745554 - SAA1 P0DJI8 VAR_006926 p.Ala70Val LB/B - - SAA1 P0DJI8 VAR_006927 p.Val75Ala LB/B - - SAA1 P0DJI8 VAR_006928 p.Asp78Asn LB/B rs557915415 - SAA1 P0DJI8 VAR_006931 p.Gly90Asp LB/B rs79681911 - SAA1 P0DJI8 VAR_057167 p.Phe86Leu LB/B rs1059559 - SAA1 P0DJI8 VAR_088562 p.Thr77Ser LB/B rs1671926 - SAA2 P0DJI9 VAR_006930 p.Arg89His LB/B rs2229338 - SAA4 P35542 VAR_051893 p.Cys89Tyr LB/B rs2460827 - SAAL1 Q96ER3 VAR_053846 p.Ile315Val LB/B rs35525096 - SAAL1 Q96ER3 VAR_053847 p.Ser426Gly LB/B rs28930681 - SAC3D1 A6NKF1 VAR_036755 p.Thr8Pro LB/B rs10160811 - SAC3D1 A6NKF1 VAR_036756 p.Leu186Pro LB/B rs3741390 - SAC3D1 A6NKF1 VAR_062213 p.Leu155Arg LB/B rs12271134 - SACM1L Q9NTJ5 VAR_038484 p.Tyr434Phe LB/B rs1468542 - SACS Q9NZJ4 VAR_010296 p.Val3369Ala LB/B rs17078605 - SACS Q9NZJ4 VAR_035986 p.Met1795Ile US - A colorectal cancer sample SACS Q9NZJ4 VAR_059716 p.Asn232Lys LB/B rs2031640 - SACS Q9NZJ4 VAR_059717 p.Ala694Thr LB/B rs17325713 - SACS Q9NZJ4 VAR_059718 p.Lys2017Asn LB/B rs35865691 - SACS Q9NZJ4 VAR_059719 p.Lys2958Arg LB/B rs11839380 - SACS Q9NZJ4 VAR_059720 p.Pro3678Ala LB/B rs17078601 - SACS Q9NZJ4 VAR_059721 p.Asn4217Asp LB/B rs35799469 - SACS Q9NZJ4 VAR_064801 p.Asp168Tyr LP/P - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064802 p.Thr201Lys LP/P - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064803 p.Leu308Phe LP/P - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064804 p.Leu556Pro LP/P - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064805 p.Leu802Pro LP/P - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064806 p.Cys991Arg LP/P - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064807 p.Phe1054Ser LP/P rs137853019 Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064808 p.Met1311Lys LP/P - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064809 p.Arg1575Pro LP/P - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064810 p.His1587Arg LP/P - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064811 p.Trp1946Arg LP/P rs137853017 Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064813 p.Arg2703Cys LP/P rs780332615 Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064814 p.Pro2798Gln LP/P rs140551762 Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064816 p.Trp3248Arg LP/P rs137853018 Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064817 p.Leu3481Pro LP/P - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064818 p.Arg3636Gln LP/P rs281865119 Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064819 p.Leu3645Pro LP/P - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064820 p.Pro3652Thr LP/P rs201505036 Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064821 p.Phe3653Ser LP/P - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064822 p.Ala4074Pro LP/P rs137853016 Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064823 p.Arg4331Gln LP/P rs773009784 Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064824 p.Glu4343Lys LP/P rs749383532 Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064825 p.Lys4508Thr LP/P - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064826 p.Asn4549Asp LP/P rs1178912631 Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_069775 p.Thr3702Ala US - - SACS Q9NZJ4 VAR_083891 p.Asn3750Ser US rs376188585 - SAG P10523 VAR_008263 p.Ile76Val LB/B rs7565275 - SAG P10523 VAR_008264 p.Arg84Cys LB/B rs115857633 - SAG P10523 VAR_008265 p.Thr125Met LB/B rs137886124 - SAG P10523 VAR_008266 p.Pro364Leu LB/B rs112613526 - SAG P10523 VAR_008267 p.Val378Ile LB/B rs200602069 - SAG P10523 VAR_008268 p.Arg384Cys LB/B rs1427707173 - SAG P10523 VAR_033524 p.Val403Ile LB/B rs1046974 - SAG P10523 VAR_048333 p.Val403Ala LB/B rs1046976 - SAG P10523 VAR_088068 p.Cys147Phe LP/P - Retinitis pigmentosa 96 (RP96) [MIM:620228] SAGE1 Q9NXZ1 VAR_032243 p.Asn741Lys LB/B rs35470903 - SAGE1 Q9NXZ1 VAR_032244 p.Leu805Ser LB/B rs4829799 - SALL1 Q9NSC2 VAR_013157 p.Ser159Gly LB/B rs13336129 - SALL1 Q9NSC2 VAR_013159 p.Gly1265Glu LB/B rs149302006 - SALL2 Q9Y467 VAR_014129 p.Ser75Cys LB/B rs2242527 - SALL2 Q9Y467 VAR_014130 p.Ser122Pro LB/B rs1263811 - SALL2 Q9Y467 VAR_014131 p.Arg746Gly LB/B rs1263810 - SALL3 Q9BXA9 VAR_014132 p.Leu593Val LB/B rs2447437 - SALL3 Q9BXA9 VAR_035552 p.Arg143His US - A colorectal cancer sample SALL3 Q9BXA9 VAR_059887 p.Thr533Ala LB/B rs7240860 - SALL4 Q9UJQ4 VAR_016042 p.Leu507Arg LB/B rs6126344 - SALL4 Q9UJQ4 VAR_016043 p.Ile798Leu LB/B rs6091375 - SALL4 Q9UJQ4 VAR_033054 p.His888Arg LP/P rs74315429 Duane-radial ray syndrome (DRRS) [MIM:607323] SAMD1 Q6SPF0 VAR_061701 p.Glu340Asp LB/B rs8062 - SAMD15 Q9P1V8 VAR_030890 p.Leu18Pro LB/B rs11844594 - SAMD15 Q9P1V8 VAR_030891 p.Lys370Glu LB/B rs4903576 - SAMD15 Q9P1V8 VAR_030892 p.Lys454Glu LB/B rs2193595 - SAMD15 Q9P1V8 VAR_061613 p.Met168Ile LB/B rs45527334 - SAMD3 Q8N6K7 VAR_030910 p.Glu94Lys LB/B rs17852709 - SAMD3 Q8N6K7 VAR_069418 p.Asp181Asn LB/B rs150968705 - SAMD7 Q7Z3H4 VAR_029586 p.Glu220Asp LB/B rs10513680 - SAMD9 Q5K651 VAR_031526 p.Ile143Thr LB/B rs6969691 - SAMD9 Q5K651 VAR_031527 p.Asn449Ser LB/B rs10239435 - SAMD9 Q5K651 VAR_031528 p.Val549Leu LB/B rs10279499 - SAMD9 Q5K651 VAR_031529 p.Lys1495Glu LP/P rs121918554 Tumoral calcinosis, normophosphatemic, familial (NFTC) [MIM:610455] SAMD9 Q5K651 VAR_077813 p.Arg1293Trp LP/P - MIRAGE syndrome (MIRAGE) [MIM:617053] SAMD9 Q5K651 VAR_077885 p.Arg459Gln LP/P - MIRAGE syndrome (MIRAGE) [MIM:617053] SAMD9 Q5K651 VAR_077886 p.Asp769Asn LP/P - MIRAGE syndrome (MIRAGE) [MIM:617053] SAMD9 Q5K651 VAR_077887 p.Asn834Tyr LP/P - MIRAGE syndrome (MIRAGE) [MIM:617053] SAMD9 Q5K651 VAR_077888 p.Glu974Lys LP/P rs1554336981 MIRAGE syndrome (MIRAGE) [MIM:617053] SAMD9 Q5K651 VAR_077889 p.Ala1195Val LP/P - MIRAGE syndrome (MIRAGE) [MIM:617053] SAMD9 Q5K651 VAR_077890 p.Pro1280Leu LP/P - MIRAGE syndrome (MIRAGE) [MIM:617053] SAMD9 Q5K651 VAR_077891 p.Gln1286Lys LP/P - MIRAGE syndrome (MIRAGE) [MIM:617053] SAMD9 Q5K651 VAR_085147 p.Lys676Glu LP/P - Monosomy 7 myelodysplasia and leukemia syndrome 2 (M7MLS2) [MIM:619041] SAMD9L Q8IVG5 VAR_030911 p.Val266Ile LB/B rs10488532 - SAMD9L Q8IVG5 VAR_030912 p.Phe289Ser LB/B rs2073793 - SAMD9L Q8IVG5 VAR_030913 p.Gly1137Ala LB/B rs17165111 - SAMD9L Q8IVG5 VAR_030914 p.Asn1516Thr LB/B rs10282508 - SAMD9L Q8IVG5 VAR_077034 p.His880Gln LP/P rs878855336 Ataxia-pancytopenia syndrome (ATXPC) [MIM:159550] SAMD9L Q8IVG5 VAR_077034 p.His880Gln LP/P rs878855336 Monosomy 7 myelodysplasia and leukemia syndrome 1 (M7MLS1) [MIM:252270] SAMD9L Q8IVG5 VAR_077035 p.Cys1196Ser US rs878855337 Ataxia-pancytopenia syndrome (ATXPC) [MIM:159550] SAMD9L Q8IVG5 VAR_085144 p.Arg986Cys LP/P - Monosomy 7 myelodysplasia and leukemia syndrome 1 (M7MLS1) [MIM:252270] SAMD9L Q8IVG5 VAR_085145 p.Arg1281Lys LP/P - Monosomy 7 myelodysplasia and leukemia syndrome 1 (M7MLS1) [MIM:252270] SAMD9L Q8IVG5 VAR_085146 p.Val1512Ala LP/P - Monosomy 7 myelodysplasia and leukemia syndrome 1 (M7MLS1) [MIM:252270] SAMD9L Q8IVG5 VAR_087095 p.Ser626Leu LP/P - Spinocerebellar ataxia 49 (SCA49) [MIM:619806] SAMHD1 Q9Y3Z3 VAR_058481 p.His123Pro LP/P rs121434520 Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_058482 p.Arg143Cys LP/P rs387906948 Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_058483 p.Arg143His LP/P rs369035155 Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_058484 p.Arg145Gln LP/P rs515726145 Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_058485 p.Ile201Asn LP/P rs138603088 Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_058485 p.Ile201Asn LP/P rs138603088 Chilblain lupus 2 (CHBL2) [MIM:614415] SAMHD1 Q9Y3Z3 VAR_058486 p.Gly209Ser LP/P rs121434516 Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_058487 p.Met254Val LP/P rs121434521 Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_058488 p.Leu369Ser LP/P rs515726139 Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_058489 p.Met385Val LP/P rs515726140 Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_070633 p.His167Tyr LP/P - Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_070634 p.Arg290His LP/P rs559553527 Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_078240 p.Ile448Thr LP/P rs774964432 Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] SAMM50 Q9Y512 VAR_013768 p.Ile345Val LB/B rs8418 - SAMM50 Q9Y512 VAR_057338 p.Asp110Gly LB/B rs3761472 - SAMSN1 Q9NSI8 VAR_051331 p.Gly63Ala LB/B rs34607574 - SAPCD1 Q5SSQ6 VAR_056889 p.Pro30Ser LB/B rs17201151 - SAPCD1 Q5SSQ6 VAR_056890 p.Pro99Leu LB/B rs6905572 - SAR1B Q9Y6B6 VAR_016806 p.Gly37Arg LP/P rs121917846 Chylomicron retention disease (CMRD) [MIM:246700] SAR1B Q9Y6B6 VAR_016807 p.Asp137Asn LP/P rs28942109 Chylomicron retention disease (CMRD) [MIM:246700] SAR1B Q9Y6B6 VAR_016808 p.Ser179Arg LP/P rs28942110 Chylomicron retention disease (CMRD) [MIM:246700] SAR1B Q9Y6B6 VAR_059051 p.Gly11Asp LP/P - Chylomicron retention disease (CMRD) [MIM:246700] SAR1B Q9Y6B6 VAR_059052 p.Asp75Gly LP/P rs1254114609 Chylomicron retention disease (CMRD) [MIM:246700] SARAF Q96BY9 VAR_054042 p.Pro78Thr LB/B rs11538828 - SARDH Q9UL12 VAR_019687 p.Arg614His LB/B rs2073817 - SARDH Q9UL12 VAR_019688 p.Met648Val LB/B rs886016 - SARDH Q9UL12 VAR_039077 p.Gly22Cys LB/B rs35559818 - SARDH Q9UL12 VAR_039078 p.Glu372Asp LB/B rs35218200 - SARDH Q9UL12 VAR_069272 p.Val71Phe LP/P rs397514504 Sarcosinemia (SARCOS) [MIM:268900] SARDH Q9UL12 VAR_069273 p.Pro287Leu LP/P rs149481147 Sarcosinemia (SARCOS) [MIM:268900] SARG Q9BW04 VAR_038775 p.Pro87Ser LB/B rs706846 - SARG Q9BW04 VAR_038776 p.Thr107Ala LB/B rs35299018 - SARG Q9BW04 VAR_038777 p.Asn157Thr LB/B rs34660159 - SARG Q9BW04 VAR_038778 p.Arg258Gly LB/B rs12062114 - SARG Q9BW04 VAR_038779 p.Asn434Ser LB/B rs35267170 - SARG Q9BW04 VAR_038780 p.Ser444Pro LB/B rs2842726 - SARG Q9BW04 VAR_038781 p.Phe514Ser LB/B rs11799966 - SARM1 Q6SZW1 VAR_061702 p.Pro23Arg LB/B rs7212814 - SARS1 P49591 VAR_078434 p.Asp172Asn LP/P rs1553178049 Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) [MIM:617709] SARS1 P49591 VAR_087457 p.Arg213Leu LP/P - Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) [MIM:617709] SARS1 P49591 VAR_088480 p.Arg302Cys LP/P - Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) [MIM:617709] SARS1 P49591 VAR_088481 p.Arg390Cys LP/P - Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) [MIM:617709] SARS2 Q9NP81 VAR_052645 p.Thr35Ala LB/B rs34264048 - SARS2 Q9NP81 VAR_052646 p.Ser83Leu LB/B rs34050897 - SARS2 Q9NP81 VAR_065820 p.Asp390Gly LP/P rs727502784 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome (HUPRAS) [MIM:613845] SART1 O43290 VAR_025319 p.Gly485Ala LB/B rs660118 - SART1 O43290 VAR_034504 p.Ser463Ala LB/B rs35036096 - SART1 O43290 VAR_051367 p.Arg245Cys LB/B rs688862 - SART3 Q15020 VAR_038683 p.Val591Met US rs118203954 - SART3 Q15020 VAR_038684 p.Glu621Asp LB/B rs2287546 - SART3 Q15020 VAR_038802 p.Asp23Glu LB/B rs2072579 - SASH1 O94885 VAR_031714 p.Pro298Gln LB/B rs35078400 - SASH1 O94885 VAR_031715 p.Gln884Arg LB/B rs208696 - SASH1 O94885 VAR_082102 p.Ser507Ala LP/P rs1562489143 Dyschromatosis universalis hereditaria 1 (DUH1) [MIM:127500] SASH1 O94885 VAR_082103 p.Glu509Lys LP/P rs1562489156 Dyschromatosis universalis hereditaria 1 (DUH1) [MIM:127500] SASH1 O94885 VAR_082104 p.Ser513Arg US rs1237876014 Dyschromatosis universalis hereditaria 1 (DUH1) [MIM:127500] SASH1 O94885 VAR_082105 p.Leu515Pro LP/P rs1562489224 Dyschromatosis universalis hereditaria 1 (DUH1) [MIM:127500] SASH1 O94885 VAR_082106 p.Ser519Asn LP/P rs1562489240 Dyschromatosis universalis hereditaria 1 (DUH1) [MIM:127500] SASH1 O94885 VAR_082107 p.Tyr551Asp LP/P rs1562490566 Dyschromatosis universalis hereditaria 1 (DUH1) [MIM:127500] SASH1 O94885 VAR_082108 p.Tyr551His LP/P rs1562490566 Dyschromatosis universalis hereditaria 1 (DUH1) [MIM:127500] SASH1 O94885 VAR_082109 p.Met595Thr US rs1562491501 Dyschromatosis universalis hereditaria 1 (DUH1) [MIM:127500] SASH1 O94885 VAR_082110 p.Glu617Lys LP/P rs587781245 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma (CAPOK) [MIM:618373] SASH3 O75995 VAR_087466 p.Arg347Cys LP/P - Immunodeficiency 102 (IMD102) [MIM:301082] SASS6 Q6UVJ0 VAR_021590 p.Ala259Val LB/B rs13375867 - SASS6 Q6UVJ0 VAR_073833 p.Ile62Thr LP/P rs876661307 Microcephaly 14, primary, autosomal recessive (MCPH14) [MIM:616402] SAT2 Q96F10 VAR_020465 p.Arg126Cys LB/B rs13894 - SATB1 Q01826 VAR_085437 p.Pro181Leu US - Den Hoed-de Boer-Voisin syndrome (DHDBV) [MIM:619229] SATB1 Q01826 VAR_085438 p.Met323Val LP/P - Den Hoed-de Boer-Voisin syndrome (DHDBV) [MIM:619229] SATB1 Q01826 VAR_085439 p.Ser366Leu US - - SATB1 Q01826 VAR_085440 p.Gln402Arg LP/P - Den Hoed-de Boer-Voisin syndrome (DHDBV) [MIM:619229] SATB1 Q01826 VAR_085441 p.Glu407Gly LP/P - Den Hoed-de Boer-Voisin syndrome (DHDBV) [MIM:619229] SATB1 Q01826 VAR_085442 p.Glu407Gln LP/P - Den Hoed-de Boer-Voisin syndrome (DHDBV) [MIM:619229] SATB1 Q01826 VAR_085444 p.Glu413Lys LP/P - Den Hoed-de Boer-Voisin syndrome (DHDBV) [MIM:619229] SATB1 Q01826 VAR_085445 p.Gln420Arg LP/P - Den Hoed-de Boer-Voisin syndrome (DHDBV) [MIM:619229] SATB1 Q01826 VAR_085446 p.Val519Leu US - - SATB1 Q01826 VAR_085447 p.Gln525Arg LP/P - Den Hoed-de Boer-Voisin syndrome (DHDBV) [MIM:619229] SATB1 Q01826 VAR_085448 p.Glu530Gly LP/P - Den Hoed-de Boer-Voisin syndrome (DHDBV) [MIM:619229] SATB1 Q01826 VAR_085449 p.Glu530Lys LP/P - Den Hoed-de Boer-Voisin syndrome (DHDBV) [MIM:619229] SATB1 Q01826 VAR_085450 p.Glu530Gln LP/P - Den Hoed-de Boer-Voisin syndrome (DHDBV) [MIM:619229] SATB1 Q01826 VAR_085451 p.Glu547Lys LP/P - Den Hoed-de Boer-Voisin syndrome (DHDBV) [MIM:619229] SATB1 Q01826 VAR_085452 p.Ala573Thr US - - SATB1 Q01826 VAR_085453 p.His577Arg LP/P - Den Hoed-de Boer-Voisin syndrome (DHDBV) [MIM:619229] SATB1 Q01826 VAR_085454 p.Gln619Arg US - Den Hoed-de Boer-Voisin syndrome (DHDBV) [MIM:619229] SATB1 Q01826 VAR_085455 p.Leu682Val US - Den Hoed-de Boer-Voisin syndrome (DHDBV) [MIM:619229] SATB2 Q9UPW6 VAR_059320 p.Ser263Pro LB/B rs12619995 - SATL1 Q86VE3 VAR_031438 p.Trp279Arg LB/B rs10126146 - SAV1 Q9H4B6 VAR_015880 p.Ala185Asp US - A colon cancer cell line SAXO1 Q8IYX7 VAR_023229 p.Lys27Glu LB/B rs7021572 - SAXO1 Q8IYX7 VAR_023230 p.Pro63Ser LB/B rs6475273 - SAXO1 Q8IYX7 VAR_057807 p.Asn385Ser LB/B rs34119945 - SAXO2 Q658L1 VAR_039359 p.Ser8Gly LB/B rs11631813 - SAXO2 Q658L1 VAR_039360 p.Pro34Leu LB/B rs16973457 - SAXO2 Q658L1 VAR_039361 p.Trp225Arg LB/B rs11630197 - SAXO4 Q7Z5V6 VAR_030271 p.Thr238Asn LB/B rs11230707 - SAXO4 Q7Z5V6 VAR_030272 p.Ser382Thr LB/B rs12787061 - SAXO5 Q8NA69 VAR_034664 p.Asp256Gly LB/B rs484870 - SAXO5 Q8NA69 VAR_034665 p.Tyr396Asn LB/B rs3826736 - SAXO5 Q8NA69 VAR_034666 p.Tyr434Asn LB/B rs475923 - SAXO5 Q8NA69 VAR_034667 p.Pro497Ser LB/B rs1133378 - SAXO5 Q8NA69 VAR_034668 p.Leu500Pro LB/B rs608144 - SBDS Q9Y3A5 VAR_015390 p.Asn8Lys US rs28942099 Shwachman-Diamond syndrome 1 (SDS1) [MIM:260400] SBDS Q9Y3A5 VAR_015391 p.Glu44Gly US rs1554341516 Shwachman-Diamond syndrome 1 (SDS1) [MIM:260400] SBDS Q9Y3A5 VAR_015392 p.Lys67Glu US rs1554341499 Shwachman-Diamond syndrome 1 (SDS1) [MIM:260400] SBDS Q9Y3A5 VAR_015393 p.Ile87Ser US rs1554341363 Shwachman-Diamond syndrome 1 (SDS1) [MIM:260400] SBDS Q9Y3A5 VAR_015394 p.Arg126Thr LP/P rs113993995 Shwachman-Diamond syndrome 1 (SDS1) [MIM:260400] SBDS Q9Y3A5 VAR_015395 p.Arg169Cys US rs113993996 Shwachman-Diamond syndrome 1 (SDS1) [MIM:260400] SBDS Q9Y3A5 VAR_015396 p.Ile212Thr LB/B rs79344818 - SBDS Q9Y3A5 VAR_071673 p.Lys33Thr LP/P rs373730800 Shwachman-Diamond syndrome 1 (SDS1) [MIM:260400] SBF1 O95248 VAR_070046 p.Met418Val LP/P rs587776986 Charcot-Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284] SBF1 O95248 VAR_070047 p.Thr1565Ala LP/P rs200488568 Charcot-Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284] SBF2 Q86WG5 VAR_051766 p.Pro303Leu LB/B rs16907355 - SBF2 Q86WG5 VAR_051767 p.Glu679Lys LB/B rs7102464 - SBF2 Q86WG5 VAR_051768 p.Gln1216Glu LB/B rs12574508 - SBK1 Q52WX2 VAR_041068 p.Lys92Glu US - An ovarian mucinous carcinoma sample SBK1 Q52WX2 VAR_041069 p.Asn250Thr LB/B rs56072383 - SBK1 Q52WX2 VAR_041070 p.Ala261Ser LB/B - - SBK1 Q52WX2 VAR_051665 p.Arg12His LB/B rs35448675 - SBK2 P0C263 VAR_041077 p.Glu20Lys LB/B rs34316437 - SBK2 P0C263 VAR_041078 p.Ala41Glu LB/B - - SBK2 P0C263 VAR_041079 p.Gly102Asp LB/B rs56158623 - SBNO1 A3KN83 VAR_037910 p.Thr634Ser US - A breast cancer sample SBNO1 A3KN83 VAR_037911 p.Ser728Asn LB/B rs1060105 - SBNO1 A3KN83 VAR_037912 p.Glu889Lys US - A breast cancer sample SBNO1 A3KN83 VAR_037913 p.Ser997Cys US - A breast cancer sample SBNO1 A3KN83 VAR_057794 p.Ser729Asn LB/B rs1060105 - SBSN Q6UWP8 VAR_069027 p.Ala419Gly LB/B rs10775583 - SBSPON Q8IVN8 VAR_042961 p.Trp186Arg LB/B rs2291219 - SBSPON Q8IVN8 VAR_061914 p.Phe58Leu LB/B rs59331088 - SC5D O75845 VAR_014423 p.Arg29Gln LP/P rs104894295 Lathosterolosis (LATHOS) [MIM:607330] SC5D O75845 VAR_014424 p.Gly211Asp LP/P rs104894296 Lathosterolosis (LATHOS) [MIM:607330] SC5D O75845 VAR_020829 p.Tyr46Ser LP/P rs104894297 Lathosterolosis (LATHOS) [MIM:607330] SCAF1 Q9H7N4 VAR_052235 p.Thr895Ala LB/B rs3745470 - SCAF1 Q9H7N4 VAR_052236 p.Met1146Thr LB/B rs2304208 - SCAF11 Q99590 VAR_059722 p.Phe657Tyr LB/B rs7315731 - SCAF11 Q99590 VAR_059723 p.Val1261Leu LB/B rs11574973 - SCAF4 O95104 VAR_052234 p.Ser846Tyr LB/B rs12152067 - SCAF8 Q9UPN6 VAR_052220 p.Ser865Asn LB/B rs34802160 - SCAI Q8N9R8 VAR_023236 p.Ala37Thr LB/B rs589292 - SCAMP3 O14828 VAR_011885 p.Leu38Arg LB/B rs760073 - SCAMP3 O14828 VAR_011886 p.Val235Ala LB/B rs1318328 - SCAMP3 O14828 VAR_011887 p.Ile239Asn LB/B rs909106 - SCAMP3 O14828 VAR_011888 p.Val242Asp LB/B rs909107 - SCAMP4 Q969E2 VAR_061783 p.Ala49Thr LB/B rs45562539 - SCAND2P Q9GZW5 VAR_021961 p.Ala185Thr LB/B rs698620 - SCAND2P Q9GZW5 VAR_034421 p.Pro110Thr LB/B rs16974462 - SCAND3 Q6R2W3 VAR_027012 p.Met155Val LB/B rs409029 - SCAND3 Q6R2W3 VAR_061703 p.Gln465Lys LB/B rs41270593 - SCAP Q12770 VAR_012203 p.Val798Ile LB/B rs12487736 - SCAPER Q9BY12 VAR_019978 p.Pro1089Thr LB/B rs1607017 - SCAPER Q9BY12 VAR_052806 p.Ala1140Thr LB/B rs3743176 - SCAPER Q9BY12 VAR_059910 p.Ala1139Thr LB/B rs3743176 - SCAPER Q9BY12 VAR_081682 p.Ser1219Asn US rs1305542291 Intellectual developmental disorder and retinitis pigmentosa (IDDRP) [MIM:618195] SCARA3 Q6AZY7 VAR_025228 p.Arg130Gln LB/B rs34791518 - SCARA3 Q6AZY7 VAR_025229 p.Met325Thr LB/B rs33930667 - SCARA3 Q6AZY7 VAR_025230 p.Arg423Gln LB/B rs3735754 - SCARA3 Q6AZY7 VAR_025231 p.Val428Ile LB/B rs34086286 - SCARA3 Q6AZY7 VAR_025232 p.Phe467Leu LB/B rs17057523 - SCARA3 Q6AZY7 VAR_025233 p.Pro551Ser LB/B rs35928641 - SCARA5 Q6ZMJ2 VAR_030915 p.Asp316His LB/B rs17058207 - SCARA5 Q6ZMJ2 VAR_052062 p.Ala45Thr LB/B rs17058374 - SCARB1 Q8WTV0 VAR_017098 p.Gly2Ser LB/B rs4238001 - SCARB1 Q8WTV0 VAR_017099 p.Val135Ile LB/B rs5891 - SCARB1 Q8WTV0 VAR_017100 p.Gly167Ser LB/B rs199588922 - SCARB1 Q8WTV0 VAR_017101 p.Cys511Arg LB/B rs2293440 - SCARB1 Q8WTV0 VAR_019507 p.Ser229Gly LB/B rs10396213 - SCARB1 Q8WTV0 VAR_064909 p.Pro297Ser LB/B rs387906791 - SCARB1 Q8WTV0 VAR_076314 p.Pro376Leu LB/B rs74830677 - SCARB2 Q14108 VAR_066744 p.His363Asn LP/P rs758857853 Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4) [MIM:254900] SCARB2 Q14108 VAR_066745 p.Glu471Gly LB/B rs755903502 - SCARF1 Q14162 VAR_047249 p.Ala425Val LB/B rs2272011 - SCARF1 Q14162 VAR_047250 p.Arg618Lys LB/B rs35455643 - SCARF1 Q14162 VAR_047251 p.Glu639Asp LB/B rs3744644 - SCARF1 Q14162 VAR_047252 p.Arg662Trp LB/B rs8072430 - SCARF1 Q14162 VAR_047253 p.Gly667Ser LB/B rs4790250 - SCARF1 Q14162 VAR_047254 p.Gly748Val LB/B rs3760460 - SCARF2 Q96GP6 VAR_015148 p.Glu778Asp LB/B rs759611 - SCARF2 Q96GP6 VAR_015149 p.Leu779Val LB/B rs759612 - SCARF2 Q96GP6 VAR_015150 p.Ala820Gly LB/B rs874100 - SCARF2 Q96GP6 VAR_015151 p.Ala838Gly LB/B rs874101 - SCARF2 Q96GP6 VAR_035837 p.Arg499Cys US - A breast cancer sample SCARF2 Q96GP6 VAR_055776 p.Thr425Ser LB/B rs2241230 - SCARF2 Q96GP6 VAR_055777 p.His522Leu LB/B rs12484828 - SCARF2 Q96GP6 VAR_059274 p.Pro174Ser LB/B rs361566 - SCARF2 Q96GP6 VAR_065302 p.Cys258Tyr LP/P rs387907086 Van den Ende-Gupta syndrome (VDEGS) [MIM:600920] SCCPDH Q8NBX0 VAR_034486 p.Gly418Arg LB/B rs7779 - SCD O00767 VAR_025994 p.Met224Leu LB/B rs2234970 - SCD5 Q86SK9 VAR_085092 p.Trp209Ser US rs192654796 Deafness, autosomal dominant, 79 (DFNA79) [MIM:619086] SCEL O95171 VAR_047920 p.Val336Leu LB/B rs34164479 - SCEL O95171 VAR_047921 p.Arg386Lys LB/B rs2274016 - SCEL O95171 VAR_047922 p.Lys480Arg LB/B rs8002725 - SCFD1 Q8WVM8 VAR_019616 p.Lys63Arg LB/B rs229150 - SCFD2 Q8WU76 VAR_024687 p.Leu512Ser LB/B rs7675987 - SCG2 P13521 VAR_031555 p.Tyr61His LB/B rs16864976 - SCG2 P13521 VAR_031556 p.Asp294Gly LB/B rs17852053 - SCG2 P13521 VAR_031557 p.Arg421Gly LB/B rs17856669 - SCG2 P13521 VAR_031558 p.Asp535Gly LB/B rs17852054 - SCG2 P13521 VAR_031559 p.Pro564Leu LB/B rs36043001 - SCG2 P13521 VAR_048755 p.Ala196Val LB/B rs1438157 - SCG3 Q8WXD2 VAR_013827 p.Ser125Asn LB/B rs2305710 - SCG3 Q8WXD2 VAR_034484 p.Met233Val LB/B rs35664837 - SCG3 Q8WXD2 VAR_067273 p.Val167Ala LB/B rs17851186 - SCGB1A1 P11684 VAR_012045 p.Arg56Gly LB/B rs1802634 - SCGB1A1 P11684 VAR_012046 p.Thr68Ala LB/B rs1802632 - SCGB1C1 Q8TD33 VAR_063102 p.Ile70Arg LB/B rs2686894 - SCGB1D2 O95969 VAR_020254 p.Pro53Leu LB/B rs2232950 - SCGB1D2 O95969 VAR_020255 p.Val80Ala LB/B rs2276427 - SCGB3A2 Q96PL1 VAR_036185 p.Lys33Asn US - A breast cancer sample SCGN O76038 VAR_042710 p.Ala216Val LB/B rs6942245 - SCHIP1 P0DPB3 VAR_032534 p.Ala481Val LB/B rs17850021 - SCHIP1 P0DPB3 VAR_051332 p.Glu101Lys LB/B rs3732851 - SCIN Q9Y6U3 VAR_057470 p.Phe455Leu LB/B rs17166250 - SCIN Q9Y6U3 VAR_057471 p.Leu578Phe LB/B rs1138957 - SCIN Q9Y6U3 VAR_059956 p.His61Arg LB/B rs2240572 - SCIN Q9Y6U3 VAR_059957 p.Ala443Pro LB/B rs35083013 - SCIN Q9Y6U3 VAR_059958 p.Lys500Arg LB/B rs35705332 - SCLT1 Q96NL6 VAR_038481 p.Ser441Cys LB/B rs10028124 - SCLY Q96I15 VAR_038464 p.Lys52Glu LB/B rs7597367 - SCLY Q96I15 VAR_038465 p.Ala175Thr LB/B rs3210400 - SCLY Q96I15 VAR_038466 p.Phe276Ser LB/B rs35637307 - SCML4 Q8N228 VAR_043669 p.Arg126Gln LB/B rs6934505 - SCN10A Q9Y5Y9 VAR_020605 p.Ser509Pro LB/B rs7630989 - SCN10A Q9Y5Y9 VAR_020606 p.Val1073Ala LB/B rs6795970 - SCN10A Q9Y5Y9 VAR_020607 p.Leu1092Pro LB/B rs12632942 - SCN10A Q9Y5Y9 VAR_020608 p.Met1713Val LB/B rs6599241 - SCN10A Q9Y5Y9 VAR_048696 p.Gly590Arg LB/B rs35332705 - SCN10A Q9Y5Y9 VAR_064748 p.Arg916Trp LB/B rs370208223 - SCN10A Q9Y5Y9 VAR_070878 p.Leu554Pro LP/P rs138404783 Episodic pain syndrome, familial, 2 (FEPS2) [MIM:615551] SCN10A Q9Y5Y9 VAR_070879 p.Pro939Leu LB/B rs202174472 - SCN10A Q9Y5Y9 VAR_070880 p.Gln940Leu LB/B - - SCN10A Q9Y5Y9 VAR_070881 p.Asp1056Asn LB/B rs751574392 - SCN10A Q9Y5Y9 VAR_070882 p.Ala1304Thr LP/P rs142173735 Episodic pain syndrome, familial, 2 (FEPS2) [MIM:615551] SCN10A Q9Y5Y9 VAR_070883 p.Cys1523Tyr LB/B rs142217269 - SCN10A Q9Y5Y9 VAR_070884 p.Gly1662Ser LB/B rs151090729 - SCN11A Q9UI33 VAR_030002 p.Gly481Glu LB/B rs13059805 - SCN11A Q9UI33 VAR_030003 p.Met777Arg LB/B rs4302324 - SCN11A Q9UI33 VAR_030004 p.Tyr1198His LB/B rs12638601 - SCN11A Q9UI33 VAR_048697 p.Val909Ile LB/B rs33985936 - SCN11A Q9UI33 VAR_070919 p.Arg225Cys LP/P rs138607170 Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552] SCN11A Q9UI33 VAR_070920 p.Ala808Gly LP/P rs483352921 Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552] SCN11A Q9UI33 VAR_070921 p.Leu811Pro LP/P rs483352920 Neuropathy, hereditary sensory and autonomic, 7 (HSAN7) [MIM:615548] SCN11A Q9UI33 VAR_075250 p.Val1184Ala LP/P - Neuropathy, hereditary sensory and autonomic, 7 (HSAN7) [MIM:615548] SCN11A Q9UI33 VAR_076679 p.Arg222His LP/P rs1230622899 Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552] SCN11A Q9UI33 VAR_076680 p.Arg222Ser LP/P - Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552] SCN11A Q9UI33 VAR_076681 p.Pro308Leu LB/B rs751477540 - SCN11A Q9UI33 VAR_076682 p.Ile381Thr LP/P rs606231280 Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552] SCN11A Q9UI33 VAR_076683 p.Lys419Asn LB/B rs150269814 - SCN11A Q9UI33 VAR_076684 p.Ala582Thr LB/B rs141228634 - SCN11A Q9UI33 VAR_076685 p.Ala681Asp LB/B - - SCN11A Q9UI33 VAR_076686 p.Gly699Arg LP/P rs145734191 Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552] SCN11A Q9UI33 VAR_076687 p.Ala842Pro LB/B rs1373209779 - SCN11A Q9UI33 VAR_076688 p.Leu1158Pro LP/P rs141686175 Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552] SCN11A Q9UI33 VAR_076689 p.Thr1609Ile LB/B rs72869687 - SCN11A Q9UI33 VAR_076690 p.Phe1689Leu LB/B rs201107889 - SCN1A P35498 VAR_010110 p.Thr875Met LP/P rs121918623 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_010110 p.Thr875Met LP/P rs121918623 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_010111 p.Arg1648His LP/P rs121918622 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_010111 p.Arg1648His LP/P rs121918622 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_014267 p.Asp188Val LP/P rs121917953 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_014268 p.Leu986Phe LP/P rs121918625 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_014269 p.Ala1067Thr LB/B rs2298771 - SCN1A P35498 VAR_014270 p.Trp1204Arg LP/P rs121917930 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_014271 p.Lys1270Thr LP/P rs121918626 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_014272 p.Val1353Leu LP/P rs121917954 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_014273 p.Ile1656Met LP/P rs121917955 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_025281 p.Gln1489Lys LP/P rs121918628 Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634] SCN1A P35498 VAR_025366 p.Met145Thr LP/P rs121918631 Febrile seizures, familial, 3A (FEB3A) [MIM:604403] SCN1A P35498 VAR_029660 p.Glu78Asp LP/P rs121917933 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029661 p.Arg101Gln LP/P rs121917918 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029661 p.Arg101Gln LP/P rs121917918 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029662 p.Ser103Gly LP/P rs121918743 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029663 p.Thr112Ile LP/P rs121918745 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029664 p.Gly177Glu LP/P rs121918770 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029665 p.Trp190Arg LP/P rs121918773 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029666 p.Ile227Ser LP/P rs121917937 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029667 p.Ile252Asn LP/P rs121918780 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029668 p.Gly265Trp LP/P rs121918749 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029669 p.Trp280Arg LP/P rs121917938 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029670 p.Thr297Ile LP/P rs121918771 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029671 p.Gly343Asp LP/P rs121918753 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029672 p.Arg393His LP/P rs121917927 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029672 p.Arg393His LP/P rs121917927 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029673 p.Tyr426Asn LP/P rs121917940 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029674 p.Arg542Gln US rs121918817 - SCN1A P35498 VAR_029675 p.Tyr790Cys LP/P rs121918782 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_029676 p.Thr808Ser LP/P rs121918758 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029677 p.Phe902Cys LP/P rs121918787 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029678 p.Arg931Cys LP/P rs121918788 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029679 p.Met934Ile LP/P rs121918774 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029680 p.His939Gln LP/P rs121918795 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029681 p.Val944Ala LP/P rs121917969 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029681 p.Val944Ala LP/P rs121917969 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029682 p.Arg946Cys LP/P rs121918775 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029683 p.Arg946His LP/P rs121917971 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029683 p.Arg946His LP/P rs121917971 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_029684 p.Cys959Arg LP/P rs121918796 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029685 p.Met960Val LP/P rs121918750 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029686 p.Gly979Arg LP/P rs121918754 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029687 p.Val983Ala LP/P rs121918756 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029688 p.Asn985Ile LP/P rs121918747 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029689 p.Asn1011Ile LP/P rs121918759 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029690 p.Ile1034Thr LB/B rs121918818 - SCN1A P35498 VAR_029691 p.Phe1038Leu LB/B - - SCN1A P35498 VAR_029692 p.Ser1231Arg LP/P rs121918746 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029693 p.Gly1233Arg LP/P rs121917911 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029694 p.Phe1263Leu LP/P rs121918752 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029695 p.Leu1265Pro LP/P rs121918794 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029697 p.Leu1355Pro LP/P rs121918776 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029698 p.Ala1326Pro LP/P rs121918803 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029699 p.Val1390Met LP/P rs121917986 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029700 p.Val1428Ala LP/P rs121918627 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_029701 p.Trp1434Arg LP/P rs121918789 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029702 p.Gln1450Arg LP/P rs121918790 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029703 p.Leu1461Ile LP/P rs121918772 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029704 p.Phe1463Ser LP/P rs121917946 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029706 p.Val1611Phe LP/P rs121918630 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029707 p.Pro1632Ser LP/P rs121918755 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029708 p.Arg1648Cys LP/P rs121918791 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029709 p.Arg1657Cys LP/P rs121918811 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_029710 p.Phe1661Ser LP/P rs121918797 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029711 p.Pro1668Ala LP/P rs121917948 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029712 p.Gly1674Arg LP/P rs121918792 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029713 p.Tyr1694Cys LP/P rs121918777 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029714 p.Ala1685Asp LP/P rs121918744 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029715 p.Ala1685Val LP/P rs121918744 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_029716 p.Phe1692Ser LP/P rs121918778 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029717 p.Thr1709Ile LP/P rs121918629 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029718 p.Gly1749Glu LP/P rs121918798 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029720 p.Met1780Thr LP/P rs121917952 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029721 p.Tyr1781Cys LP/P rs121918779 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029721 p.Tyr1781Cys LP/P rs121918779 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029723 p.Phe1808Leu LP/P rs121918757 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029724 p.Trp1812Gly LP/P rs121918751 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029726 p.Phe1831Ser LP/P rs121918748 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029727 p.Met1852Thr LP/P rs121918783 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_029728 p.Glu1881Asp LP/P rs121918804 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029729 p.Thr1909Ile LP/P rs121918793 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_029730 p.Ile1955Thr LB/B rs35735053 - SCN1A P35498 VAR_029731 p.Glu1957Gly LB/B rs121918802 - SCN1A P35498 VAR_043349 p.Tyr84Cys LP/P rs121917964 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_043350 p.Arg118Ser LP/P rs121917959 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_043351 p.Thr226Met LP/P rs121917984 Developmental and epileptic encephalopathy 6B (DEE6B) [MIM:619317] SCN1A P35498 VAR_043352 p.Ala239Thr LP/P rs121917985 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_043353 p.Asp366Glu LP/P rs121917958 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_043354 p.Arg377Gln LP/P rs121917957 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_043355 p.Arg393Cys LP/P rs121917929 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_043356 p.Ala395Pro LB/B rs121917988 - SCN1A P35498 VAR_043357 p.Val422Glu LB/B rs121917989 - SCN1A P35498 VAR_043358 p.Ser626Gly LP/P rs121917990 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_043359 p.Met973Val LP/P rs121917991 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_043360 p.Leu1207Pro LP/P rs121917963 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_043361 p.Glu1238Asp LP/P rs121917973 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_043362 p.Val1335Met LP/P rs121917960 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_043363 p.Trp1358Ser LP/P rs121917961 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_043364 p.Val1366Ile LP/P rs121918805 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_043364 p.Val1366Ile LP/P rs121918805 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_043365 p.Tyr1462Cys LP/P rs121917962 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_043366 p.Gly1480Val LB/B rs121917996 - SCN1A P35498 VAR_043367 p.Phe1543Ser LB/B rs121917992 - SCN1A P35498 VAR_043368 p.Arg1596Cys LP/P rs121917993 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_043369 p.Arg1636Gln LB/B rs121917995 - SCN1A P35498 VAR_043370 p.Arg1657His LB/B rs121917994 - SCN1A P35498 VAR_043371 p.Arg1928Gly LB/B rs121917956 - SCN1A P35498 VAR_057995 p.Arg946Ser LP/P rs121918775 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_057996 p.Gln1489His LP/P rs121918633 Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634] SCN1A P35498 VAR_057997 p.Phe1499Leu LP/P rs121918632 Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634] SCN1A P35498 VAR_057998 p.Asp1742Gly LP/P rs121918812 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_057999 p.Val1857Leu LP/P rs121918814 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_058000 p.Asp1866Tyr LP/P rs121918815 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_064229 p.Arg27Thr LP/P rs121917906 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_064230 p.Phe63Leu LP/P rs121917907 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064231 p.Phe90Ser LP/P rs121918733 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064231 p.Phe90Ser LP/P rs121918733 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_064232 p.Ile91Thr LP/P rs121918734 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064233 p.Arg101Trp LP/P rs121917965 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064234 p.Ile124Asn LP/P rs121918761 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064235 p.Ile171Lys LP/P rs121918766 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064236 p.Ala175Thr LP/P rs121918767 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064237 p.Asn191Tyr LP/P rs121918762 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064238 p.Asp194Asn LP/P rs121917935 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064239 p.Ala239Val LP/P rs121917909 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064240 p.Ser259Arg LP/P rs121918735 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064241 p.Tyr388His LP/P rs121918781 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_064242 p.Val406Phe LP/P rs121918768 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064243 p.Tyr413Asn LP/P rs121917967 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064244 p.Arg604His LB/B rs121918769 - SCN1A P35498 VAR_064245 p.Leu783Pro LP/P rs121917968 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064246 p.Arg862Gln LP/P rs121918785 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064247 p.Thr875Lys LP/P rs121918623 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064248 p.His939Tyr LP/P rs121918736 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064249 p.Val944Glu LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064250 p.Phe945Leu LP/P rs121917970 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064251 p.Gly950Glu LP/P rs121917972 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064252 p.Trp952Gly LP/P rs121918737 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064253 p.Glu954Lys LP/P rs121918786 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064254 p.Thr1210Lys LP/P rs121918738 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064255 p.Thr1260Pro LP/P rs121918739 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064256 p.Leu1287Pro LP/P rs121918740 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064257 p.Glu1308Asp US rs121917910 Febrile seizures, familial, 3A (FEB3A) [MIM:604403] SCN1A P35498 VAR_064258 p.Leu1309Phe LP/P rs121918801 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_064259 p.Asn1367Lys LP/P rs121918760 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064260 p.Cys1396Gly LP/P rs121917987 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064261 p.Gly1433Glu LP/P rs121918741 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064262 p.Gly1433Arg LP/P rs121917908 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064263 p.Gln1450Lys LP/P rs121918806 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064264 p.Leu1514Ser LP/P rs121918764 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064265 p.Ile1545Val LP/P rs121917975 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064266 p.Gly1586Glu LP/P rs121918742 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064267 p.Val1612Ile LP/P rs121918808 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064268 p.Val1637Glu LP/P rs121918810 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064269 p.Arg1645Gln LP/P rs121917976 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064270 p.Thr1658Met LP/P rs121917922 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064271 p.Met1664Lys LP/P rs121918765 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064272 p.Trp1726Arg LP/P rs121917979 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064273 p.Cys1756Gly LP/P rs121918809 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064274 p.Ile1782Met LP/P rs121918763 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064275 p.Ala1783Thr LP/P rs121917980 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064276 p.Glu1795Lys LP/P rs121918813 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_064295 p.Ser74Pro LP/P rs121917931 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_064296 p.Thr162Pro LP/P rs121917934 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064297 p.Thr217Lys LP/P rs121917936 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064298 p.Arg322Ile LP/P rs121917928 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064299 p.Arg356Gly LP/P rs121917920 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064300 p.Pro358Thr LP/P rs121917923 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064301 p.Phe383Leu LP/P rs121917939 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064302 p.Arg393Ser LP/P rs121917929 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064303 p.Phe403Leu LP/P rs121917966 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064304 p.Thr812Arg LP/P rs121917941 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064305 p.Glu846Lys LP/P rs121917942 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064306 p.Arg859Cys LP/P rs121918784 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064306 p.Arg859Cys LP/P rs121918784 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_064307 p.Leu942Pro LP/P rs121917943 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064308 p.Trp957Leu LP/P rs121917917 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064309 p.Thr1174Ser LP/P rs121918799 Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634] SCN1A P35498 VAR_064310 p.Ser1231Thr LP/P rs121918800 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064311 p.Arg1245Gln LP/P rs121917912 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064312 p.Asn1414Tyr LP/P rs121917925 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064313 p.Tyr1422Cys LP/P rs121917913 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064314 p.Leu1426Arg LP/P rs121917944 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064315 p.Pro1451Leu LP/P rs121917945 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064316 p.Gly1470Trp LP/P rs121917924 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064317 p.Leu1475Ser LP/P rs121917947 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064318 p.Arg1575Cys US rs121918807 - SCN1A P35498 VAR_064319 p.Cys1588Arg LP/P rs121917919 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064320 p.Asp1608Tyr LP/P rs121917915 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064321 p.Val1630Met LP/P rs121917914 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064322 p.Leu1649Gln LP/P - Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634] SCN1A P35498 VAR_064323 p.Thr1658Arg LP/P rs121917922 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064324 p.Phe1687Ser LP/P rs121917932 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_064325 p.Ser1713Asn LP/P rs121918816 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064326 p.Met1714Arg LP/P rs121917949 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064327 p.Cys1716Arg LP/P rs121917926 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064328 p.Gly1762Glu LP/P rs121917950 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064329 p.Ser1773Phe LP/P rs121917951 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064330 p.Glu1787Lys LP/P rs121917916 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064345 p.Ala1783Val LP/P rs121917921 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064346 p.Asp79His LP/P rs121917982 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064347 p.Thr199Arg LP/P rs121917983 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064348 p.Ala1441Pro LP/P rs121917974 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064349 p.Phe1707Val LP/P rs121917977 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064350 p.Thr1721Arg LP/P rs121917978 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_064351 p.Ile1922Thr LP/P rs121917981 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_072743 p.Glu289Val LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_072744 p.Met379Arg LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073442 p.Asp45Asn US rs531894715 - SCN1A P35498 VAR_073443 p.Gly58Val LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073444 p.Leu61Phe LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073445 p.Ile68Thr LP/P rs758871507 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073446 p.Asp79Asn LP/P rs121917982 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073447 p.Ala98Pro LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073448 p.Thr105Ile LP/P rs796053089 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073449 p.Leu108Arg LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073450 p.His127Asp LP/P rs148442069 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073451 p.Ile171Arg LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073452 p.Ala175Val LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073453 p.Phe178Ser LP/P - Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073454 p.Cys179Arg LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073455 p.Asn191Lys LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073456 p.Asp194Gly LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073457 p.Phe218Leu LP/P rs970867558 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073458 p.Ala223Glu LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073459 p.Thr226Arg LP/P rs121917984 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073460 p.Ile227Thr LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073461 p.Gly232Ser LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073462 p.Leu233Arg LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073463 p.Ser243Tyr LP/P rs794726755 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073464 p.Ile252Met LP/P - Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073465 p.Thr254Ile LP/P - Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073466 p.Cys277Arg LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073467 p.Trp280Cys LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073468 p.Pro281Ala LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073469 p.Pro281Leu LP/P rs796052964 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073470 p.Pro281Ser LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073471 p.His290Arg LP/P - Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073472 p.Ser291Gly LP/P - Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073473 p.Ala333Val LB/B - - SCN1A P35498 VAR_073474 p.Ser340Phe LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073475 p.Ala342Val LP/P rs794726797 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073476 p.Cys345Arg LP/P rs794726782 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073477 p.Cys351Trp LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073478 p.Gly355Asp LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073479 p.Asn357Ile LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073480 p.Asn359Ser LP/P rs794726713 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073480 p.Asn359Ser LP/P rs794726713 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073481 p.Thr363Pro LP/P rs1131691465 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073482 p.Thr363Arg LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073483 p.Leu378Gln LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073484 p.Asp382Asn US - - SCN1A P35498 VAR_073485 p.Trp384Arg LP/P rs1057523858 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073486 p.Met400Val LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073488 p.Phe403Val LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073489 p.Leu409Trp LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073490 p.Tyr426Cys LP/P rs796052973 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073491 p.Ser525Phe LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073492 p.Asp674Gly LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073493 p.Val699Ile LB/B rs1260934774 - SCN1A P35498 VAR_073494 p.Asn762Asp LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073495 p.Met785Thr LP/P rs796053095 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073496 p.Tyr790Phe LB/B rs121918782 - SCN1A P35498 VAR_073497 p.Thr812Ile LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073498 p.Leu842Arg LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073499 p.Ser843Arg LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073501 p.Arg859His LP/P rs398123588 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073502 p.Arg865Gly LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073503 p.Leu876Ile LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073504 p.Leu890Pro LP/P rs1553541473 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073505 p.Val896Phe LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073506 p.Val896Ile LP/P rs745378416 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073507 p.Val896Leu LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073508 p.Ile899Thr LP/P - Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073509 p.Ala924Thr LB/B rs141950573 - SCN1A P35498 VAR_073510 p.Cys927Phe LP/P rs794726811 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073511 p.Arg931His LB/B rs794726718 - SCN1A P35498 VAR_073512 p.Trp932Cys LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073513 p.His933Pro LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073514 p.Asn935His LP/P - Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073515 p.His939Pro US - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073516 p.Ser940Phe LP/P rs1057521080 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073517 p.Ile943Asn LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073518 p.Cys949Ser LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073519 p.Cys949Tyr LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073520 p.Gly950Arg LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073521 p.Met956Lys LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073522 p.Met960Thr LP/P - Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073523 p.Met973Lys LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073524 p.Met976Ile LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073524 p.Met976Ile LP/P - Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073525 p.Ile978Met US - Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073526 p.Gly979Val LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073527 p.Leu986Pro LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073528 p.Phe987Leu LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073529 p.Ser993Arg LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073530 p.Asp998Gly LP/P rs1484321812 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073532 p.Asp1006Glu LB/B rs375909896 - SCN1A P35498 VAR_073533 p.Glu1068Lys LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073534 p.Val1079Ile LB/B - - SCN1A P35498 VAR_073535 p.Pro1109Thr LB/B rs753452775 - SCN1A P35498 VAR_073536 p.Trp1204Ser LP/P - Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073537 p.Arg1208Lys LP/P rs1559149025 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073538 p.Arg1213Gln LP/P rs566081370 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073539 p.Glu1221Lys LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073540 p.Leu1230Phe LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073540 p.Leu1230Phe LP/P - Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073541 p.Asp1239Gly LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073542 p.Asp1239Tyr LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073543 p.Lys1249Asn LP/P - Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073544 p.Thr1250Met LP/P rs140731963 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073545 p.Tyr1254Cys LP/P - Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073546 p.Ala1255Asp LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073547 p.Glu1266Ala LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073548 p.Gly1275Val LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073549 p.Trp1284Ser LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073550 p.Asp1288Asn LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073551 p.Arg1316Gly LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073552 p.Arg1316Ser LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073553 p.Ala1320Val LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073554 p.Arg1325Thr LP/P - Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073555 p.Ala1326Asp US - - SCN1A P35498 VAR_073556 p.Ser1328Pro LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073556 p.Ser1328Pro LP/P - Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073557 p.Ala1339Val LP/P rs794726789 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073558 p.Ile1344Met LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073559 p.Val1350Gly LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073560 p.Phe1357Leu LP/P - Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073561 p.Trp1358Arg LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073562 p.Ala1370Pro LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073563 p.Cys1376Arg LP/P - Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073564 p.Asn1378His LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073565 p.Asn1378Thr LP/P rs1131691775 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073566 p.Phe1385Val LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073567 p.Asn1391Ser LP/P rs1553525062 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073568 p.His1393Pro LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073569 p.Thr1394Ile LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073570 p.Cys1396Tyr LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073571 p.Asn1414Asp LP/P - Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073572 p.Asp1416Gly LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073573 p.Asn1417Ser LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073574 p.Val1418Gly LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073575 p.Leu1423Phe LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073576 p.Gln1427Pro LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073577 p.Ala1429Asp LP/P - Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073579 p.Phe1431Ile LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073580 p.Gly1433Val LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073581 p.Ile1437Met LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073582 p.Pro1451Ser LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073583 p.Tyr1453Cys LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073584 p.Glu1454Lys LP/P rs1553522472 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073585 p.Tyr1462His LP/P rs1559119345 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073585 p.Tyr1462His LP/P rs1559119345 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073586 p.Phe1472Ser LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073588 p.Asn1476Lys LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073589 p.Ile1483Met US - - SCN1A P35498 VAR_073591 p.Asp1484Gly LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073592 p.Asn1485Tyr LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073593 p.Glu1503Lys LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073595 p.Met1511Lys LP/P - Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073596 p.Val1538Ile LP/P rs780360360 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073597 p.Asp1544Ala LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073598 p.Asp1544Gly LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073599 p.Met1555Arg LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073600 p.Glu1561Lys LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073601 p.Val1579Glu LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073602 p.Leu1592His LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073603 p.Leu1592Pro LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073604 p.Arg1596His LP/P rs575368466 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073605 p.Arg1596Leu LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073606 p.Asn1605Ser LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073607 p.Asp1608Gly LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073608 p.Met1619Val LP/P rs373967247 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073609 p.Val1630Leu LP/P rs121917914 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073610 p.Ile1638Asn LP/P rs1057521079 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073611 p.Ile1638Thr LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073612 p.Arg1639Gly LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073613 p.Arg1642Ser LP/P rs1131691581 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073614 p.Ala1653Glu LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073615 p.Leu1660Pro LP/P rs1131691675 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073616 p.Ala1662Val LP/P rs794726839 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073617 p.Leu1667Pro LP/P rs1131691774 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073618 p.Pro1668Leu LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073619 p.Asn1672Ile LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073620 p.Ile1673Thr LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073621 p.Leu1675Arg LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073622 p.Leu1677Phe LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073623 p.Ile1683Phe US - - SCN1A P35498 VAR_073624 p.Ile1683Thr LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073625 p.Tyr1684Asp LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073626 p.Tyr1684Ser LP/P - Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073627 p.Gly1688Trp LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073628 p.Met1714Lys LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073629 p.Ala1724Pro LP/P - Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073630 p.Gly1725Cys LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073631 p.Asp1727Gly LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073632 p.Pro1739Leu LP/P - Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073633 p.Cys1741Arg LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073634 p.Ile1763Asn LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073635 p.Phe1765Leu LP/P - Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073636 p.Ile1770Phe LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073637 p.Ile1770Asn LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073638 p.Ile1770Thr LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073639 p.Ile1771Phe LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073640 p.Ile1771Asn LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073641 p.Tyr1781His LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073642 p.Ile1782Ser LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073643 p.Asn1788Lys US rs1381184010 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073644 p.Ala1792Thr LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073645 p.Phe1808Ile LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073646 p.Trp1812Ser LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073648 p.Ala1832Pro LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073649 p.Leu1835Phe LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073650 p.Met1852Lys LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073651 p.Pro1855Leu LP/P rs1057517958 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_073652 p.Arg1861Trp LP/P - Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_073653 p.Ile1867Thr LP/P rs1131691773 Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A P35498 VAR_073654 p.Gly1880Glu LP/P rs201905405 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_075569 p.Val982Leu US - - SCN1A P35498 VAR_075570 p.Gly1674Ser US - - SCN1A P35498 VAR_075571 p.Met1977Leu US - - SCN1A P35498 VAR_077831 p.Gly1275Ala US - - SCN1A P35498 VAR_078192 p.Ser228Pro LP/P rs1057519530 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_078193 p.Glu616Asp LB/B rs1057519529 - SCN1A P35498 VAR_078194 p.Asn1605Ile LP/P rs1057519533 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_078611 p.Arg1988Trp US rs756519197 - SCN1A P35498 VAR_078725 p.Pro113Thr LP/P rs794726711 Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_078728 p.Pro1345Leu LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_078729 p.Ala1440Val US rs1559122124 - SCN1A P35498 VAR_085768 p.Arg187Gln US - - SCN1A P35498 VAR_085927 p.Val422Leu LP/P - Developmental and epileptic encephalopathy 6B (DEE6B) [MIM:619317] SCN1A P35498 VAR_085928 p.Arg862Gly LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_085929 p.Pro1345Ser LP/P - Developmental and epileptic encephalopathy 6B (DEE6B) [MIM:619317] SCN1A P35498 VAR_085930 p.Ala1669Glu LP/P - Dravet syndrome (DRVT) [MIM:607208] SCN1A P35498 VAR_088154 p.Asn541Ser US - - SCN1B Q07699 VAR_010165 p.Cys121Trp LP/P rs104894718 Generalized epilepsy with febrile seizures plus 1 (GEFSP1) [MIM:604233] SCN1B Q07699 VAR_062523 p.Asp25Asn LB/B rs786205837 - SCN1B Q07699 VAR_062524 p.Glu87Gln LB/B rs121434627 - SCN1B Q07699 VAR_062525 p.Val138Ile LB/B rs72558029 - SCN1B Q07699 VAR_062526 p.Lys208Ile LB/B rs780958012 - SCN1B Q07699 VAR_062527 p.Cys211Tyr LB/B rs150721582 - SCN1B Q07699 VAR_062528 p.Gly213Asp LB/B rs201209882 - SCN1B Q07699 VAR_067341 p.Arg125Leu LP/P rs759839781 Generalized epilepsy with febrile seizures plus 1 (GEFSP1) [MIM:604233] SCN1B Q07699 VAR_070219 p.Arg85His LP/P rs16969925 Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377] SCN1B Q07699 VAR_070220 p.Asp153Asn LP/P rs72550247 Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377] SCN1B Q07699 VAR_078019 p.Ile106Thr US - Developmental and epileptic encephalopathy 52 (DEE52) [MIM:617350] SCN1B Q07699 VAR_078020 p.Arg125Cys LP/P rs1135401736 Developmental and epileptic encephalopathy 52 (DEE52) [MIM:617350] SCN2A Q99250 VAR_029732 p.Arg19Lys LB/B rs17183814 - SCN2A Q99250 VAR_029733 p.Arg188Trp LP/P rs121917748 Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_029734 p.Arg223Gln LP/P rs121917752 Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_029735 p.Phe385Tyr LB/B rs2228988 - SCN2A Q99250 VAR_029736 p.Arg524Gln LB/B rs186154973 - SCN2A Q99250 VAR_029737 p.Val892Ile LP/P rs121917751 Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_029738 p.Leu1003Ile LP/P rs121917754 Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_029739 p.Arg1319Gln LP/P rs121917753 Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_029740 p.Leu1330Phe LP/P rs121917749 Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_029741 p.Leu1563Val LP/P rs121917750 Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_029742 p.Arg1902Thr US - - SCN2A Q99250 VAR_064331 p.Phe328Val US rs781204054 - SCN2A Q99250 VAR_065176 p.Met252Val LP/P rs387906687 Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_065177 p.Val261Met LP/P rs1057520413 Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_065178 p.Ala263Val LP/P rs387906686 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_065178 p.Ala263Val LP/P rs387906686 Episodic ataxia 9 (EA9) [MIM:618924] SCN2A Q99250 VAR_065179 p.Ala575Val LB/B rs986167267 - SCN2A Q99250 VAR_065180 p.Glu1211Lys LP/P rs387906684 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_065181 p.Ile1473Met LP/P rs387906685 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_069996 p.Glu169Gly LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_069997 p.Asn212Asp LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_069998 p.Val213Asp LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_069999 p.Thr236Ser LP/P rs1235044536 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_070000 p.Ala263Thr LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_070001 p.Arg853Gln LP/P rs794727152 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_070002 p.Asn876Thr LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_070003 p.Glu999Lys LP/P rs796053126 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_070004 p.Met1323Val LP/P rs1057519523 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_070005 p.Val1326Leu LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_070006 p.Ser1336Tyr LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_070007 p.Met1338Thr LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_070008 p.Lys1422Glu LB/B rs796053137 - SCN2A Q99250 VAR_070009 p.Thr1623Asn LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_070010 p.Arg1629Leu LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_072745 p.Val208Glu LP/P - Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_073428 p.Asp322Asn US - - SCN2A Q99250 VAR_073429 p.Arg1312Thr LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_075572 p.Ile172Val US rs1376337813 - SCN2A Q99250 VAR_078195 p.Trp191Gly LB/B rs1057519525 - SCN2A Q99250 VAR_078196 p.Val251Ile LP/P rs1057519528 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078197 p.Ala896Val LP/P rs1057519526 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078198 p.Ala1316Val LP/P rs796053130 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078199 p.Cys1344Tyr LP/P rs1057519527 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078200 p.Met1548Thr LP/P rs1057519524 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078201 p.Arg1882Gln LP/P rs794727444 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078448 p.Asp12Asn US - - SCN2A Q99250 VAR_078449 p.Asp82Gly US - - SCN2A Q99250 VAR_078451 p.Asn132Lys LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078452 p.Met136Ile LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078454 p.Thr218Lys US - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078455 p.Ala240Ser LP/P - Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_078456 p.Arg379His US - - SCN2A Q99250 VAR_078457 p.Glu430Gly LP/P rs796053183 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078458 p.Glu430Gln US - Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_078459 p.Arg850Pro US - - SCN2A Q99250 VAR_078460 p.Arg856Leu LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078461 p.Lys905Asn LP/P rs796053119 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078462 p.Lys908Arg LB/B rs2228980 - SCN2A Q99250 VAR_078463 p.Phe928Cys LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078464 p.Arg937Cys LB/B rs796053197 - SCN2A Q99250 VAR_078465 p.Arg937His LB/B rs1553579488 - SCN2A Q99250 VAR_078467 p.Asn976Lys US - - SCN2A Q99250 VAR_078468 p.Asn1001Lys LP/P - Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_078470 p.Met1128Thr US rs373780066 - SCN2A Q99250 VAR_078471 p.Val1282Phe US rs1184922927 - SCN2A Q99250 VAR_078472 p.Val1326Asp LP/P rs796053131 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078473 p.Leu1342Pro LP/P rs796053134 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078474 p.Cys1386Arg US - - SCN2A Q99250 VAR_078475 p.Thr1420Met LB/B rs1382026643 - SCN2A Q99250 VAR_078476 p.Gly1522Ala US rs147522594 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078476 p.Gly1522Ala US rs147522594 Episodic ataxia 9 (EA9) [MIM:618924] SCN2A Q99250 VAR_078477 p.Met1559Val US rs1163751310 - SCN2A Q99250 VAR_078478 p.Tyr1589Cys LP/P rs1553463119 Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_078479 p.Gly1593Arg LP/P rs886041259 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078480 p.Ile1596Ser US - Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_078482 p.Gly1634Val LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078483 p.Leu1660Trp LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078484 p.Asp1823Ala US rs138497939 - SCN2A Q99250 VAR_078485 p.Arg1882Gly LP/P rs796053166 Episodic ataxia 9 (EA9) [MIM:618924] SCN2A Q99250 VAR_078486 p.Arg1882Leu LP/P rs794727444 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078487 p.Arg1918His LB/B rs201718767 - SCN2A Q99250 VAR_078730 p.Gly211Asp LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078731 p.Arg220Gly LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078733 p.Asp649Asn US - - SCN2A Q99250 VAR_078734 p.Thr674Lys US - - SCN2A Q99250 VAR_078735 p.Ile873Met LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078736 p.Ser987Ile LP/P rs796053124 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078737 p.Glu999Val LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078738 p.Lys1260Glu LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078739 p.Lys1260Gln LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078740 p.Glu1321Lys US - Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_078741 p.Gly1372Arg US - - SCN2A Q99250 VAR_078744 p.Gln1479Pro LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078746 p.Gln1531Lys US - Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_078747 p.Lys1641Asn US rs767224097 Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_078748 p.Leu1650Pro LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078749 p.Gly1744Arg US - - SCN2A Q99250 VAR_078750 p.Leu1829Phe LP/P rs1553463676 Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_078751 p.His1853Arg LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_081430 p.Trp191Cys LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_081431 p.Val424Met US - - SCN2A Q99250 VAR_081432 p.Ala467Thr LB/B rs745774658 - SCN2A Q99250 VAR_081433 p.Thr773Ile LP/P - Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A Q99250 VAR_081434 p.Lys908Glu LP/P rs796053122 Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_081435 p.Gly1460Arg US - - SCN2A Q99250 VAR_081436 p.Gly1634Asp US rs796053159 Episodic ataxia 9 (EA9) [MIM:618924] SCN2B O60939 VAR_029131 p.Arg28Trp LP/P rs17121819 Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378] SCN2B O60939 VAR_029132 p.Arg47His LB/B rs17121818 - SCN2B O60939 VAR_070229 p.Arg28Gln LP/P rs72544145 Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378] SCN2B O60939 VAR_070230 p.Asp211Gly US rs587777023 - SCN3A Q9NY46 VAR_014275 p.Ser606Thr LB/B - - SCN3A Q9NY46 VAR_029744 p.Val1107Ala LB/B rs12474273 - SCN3A Q9NY46 VAR_029745 p.Leu1813Ser LB/B - - SCN3A Q9NY46 VAR_055640 p.Asp1803Asn LB/B rs3731762 - SCN3A Q9NY46 VAR_076435 p.Val1084Ile LB/B rs140990288 - SCN3A Q9NY46 VAR_080503 p.Leu247Pro LP/P - Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935] SCN3A Q9NY46 VAR_080504 p.Arg357Gln LP/P rs774195502 Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935] SCN3A Q9NY46 VAR_080505 p.Asp815Asn US rs755440336 Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935] SCN3A Q9NY46 VAR_080506 p.Ile875Thr LP/P rs1057518801 Developmental and epileptic encephalopathy 62 (DEE62) [MIM:617938] SCN3A Q9NY46 VAR_080507 p.Glu1160Lys LP/P rs377632429 Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935] SCN3A Q9NY46 VAR_080508 p.Pro1333Leu LP/P rs1057520753 Developmental and epileptic encephalopathy 62 (DEE62) [MIM:617938] SCN3A Q9NY46 VAR_080509 p.Met1372Val US rs758906955 Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935] SCN3A Q9NY46 VAR_080510 p.Arg1642Cys US rs1312429782 Developmental and epileptic encephalopathy 62 (DEE62) [MIM:617938] SCN3A Q9NY46 VAR_080511 p.Val1769Ala LP/P rs1553517274 Developmental and epileptic encephalopathy 62 (DEE62) [MIM:617938] SCN3A Q9NY46 VAR_080512 p.Lys1799Gln US rs1170839078 Developmental and epileptic encephalopathy 62 (DEE62) [MIM:617938] SCN3B Q9NY72 VAR_035521 p.Gln89Leu US - A colorectal cancer sample SCN3B Q9NY72 VAR_035522 p.Ala195Thr US rs375755770 A colorectal cancer sample SCN3B Q9NY72 VAR_049928 p.Ser97Asn LB/B rs35174956 - SCN3B Q9NY72 VAR_062529 p.Leu10Pro US rs121918282 Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120] SCN3B Q9NY72 VAR_062529 p.Leu10Pro US rs121918282 Brugada syndrome 7 (BRGDA7) [MIM:613120] SCN3B Q9NY72 VAR_065232 p.Val54Gly US rs587777555 - SCN3B Q9NY72 VAR_071314 p.Arg6Lys LP/P rs587777558 Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120] SCN3B Q9NY72 VAR_071315 p.Ala130Val LP/P rs587777556 Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120] SCN3B Q9NY72 VAR_071316 p.Met161Thr LP/P rs587777557 Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120] SCN4A P35499 VAR_001560 p.Met135Val LB/B - - SCN4A P35499 VAR_001561 p.Ser524Gly LB/B rs6504191 - SCN4A P35499 VAR_001562 p.Thr704Met LP/P rs80338957 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_001562 p.Thr704Met LP/P rs80338957 Periodic paralysis hyperkalemic (HYPP) [MIM:170500] SCN4A P35499 VAR_001563 p.Ser804Phe LP/P rs121908546 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_001564 p.Ala861Asp LB/B - - SCN4A P35499 VAR_001565 p.Ala1156Thr LP/P rs80338958 Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_001565 p.Ala1156Thr LP/P rs80338958 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_001565 p.Ala1156Thr LP/P rs80338958 Periodic paralysis hyperkalemic (HYPP) [MIM:170500] SCN4A P35499 VAR_001566 p.Val1293Ile LP/P rs121908551 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_001567 p.Gly1306Ala LP/P rs80338792 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_001568 p.Gly1306Glu LP/P rs80338792 Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_001568 p.Gly1306Glu LP/P rs80338792 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_001569 p.Gly1306Val LP/P rs80338792 Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_001569 p.Gly1306Val LP/P rs80338792 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_001570 p.Thr1313Met LP/P rs121908547 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_001571 p.Leu1433Arg LP/P rs121908550 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_001571 p.Leu1433Arg LP/P rs121908550 Periodic paralysis hyperkalemic (HYPP) [MIM:170500] SCN4A P35499 VAR_001572 p.Arg1448Cys LP/P rs121908544 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_001573 p.Arg1448His LP/P rs121908545 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_001574 p.Val1589Met LP/P rs121908548 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_001575 p.Met1592Val LP/P rs80338962 Periodic paralysis hyperkalemic (HYPP) [MIM:170500] SCN4A P35499 VAR_001575 p.Met1592Val LP/P rs80338962 Periodic paralysis normokalemic (NKPP) [MIM:170500] SCN4A P35499 VAR_017785 p.Ser246Leu LB/B rs80338951 - SCN4A P35499 VAR_017786 p.Val445Met LP/P rs121908552 Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_017787 p.Asn559Asp LB/B rs1047705 - SCN4A P35499 VAR_017788 p.Arg669His LP/P rs80338784 Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_017789 p.Arg672Gly LP/P rs80338785 Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_017790 p.Arg672His LP/P rs80338788 Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_017791 p.Arg672Ser LP/P rs80338785 Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_017792 p.Pro1158Ser LP/P rs121908555 Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_017793 p.Ile1160Val LP/P rs121908549 Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_017794 p.Asn1376Asp LB/B rs2058194 - SCN4A P35499 VAR_017795 p.Val1442Glu LP/P rs121908553 Myasthenic syndrome, congenital, 16 (CMS16) [MIM:614198] SCN4A P35499 VAR_022341 p.Ala1152Asp LP/P - Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_037104 p.Arg675Gly LP/P rs121908556 Periodic paralysis normokalemic (NKPP) [MIM:170500] SCN4A P35499 VAR_037105 p.Arg675Gln LP/P rs121908557 Periodic paralysis normokalemic (NKPP) [MIM:170500] SCN4A P35499 VAR_037106 p.Arg675Trp LP/P rs121908556 Periodic paralysis normokalemic (NKPP) [MIM:170500] SCN4A P35499 VAR_037107 p.Gly1456Glu LP/P rs121908554 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_054934 p.Ile141Val LP/P rs121908561 Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054935 p.Arg222Trp LP/P rs527236148 Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_054936 p.Gln270Lys LP/P rs1597985462 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_054937 p.Glu452Lys LP/P rs372631097 Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054938 p.Phe671Ser LP/P - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054939 p.Arg672Cys LP/P rs80338785 Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_054940 p.Ala715Thr LP/P rs749400108 Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054941 p.Val781Ile LB/B rs62070884 - SCN4A P35499 VAR_054942 p.Ser804Asn LP/P - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054943 p.Arg1132Gln LP/P rs80338789 Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_054944 p.Arg1135His LP/P rs527236150 Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_054945 p.Asn1297Lys LP/P rs121908560 Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054946 p.Ile1310Asn LP/P rs1567817380 Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054947 p.Leu1436Pro LP/P rs1598405334 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_054948 p.Arg1448Leu LP/P rs121908545 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_054949 p.Phe1473Ser LP/P - Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_054950 p.Met1476Ile LP/P rs121908559 Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054951 p.Ala1481Asp LP/P rs763893717 Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054952 p.Phe1705Ile LP/P rs1064794243 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_064987 p.Arg1129Gln LP/P rs527236149 Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_064987 p.Arg1129Gln LP/P rs527236149 Periodic paralysis normokalemic (NKPP) [MIM:170500] SCN4A P35499 VAR_065230 p.Arg225Trp LP/P rs764718003 Congenital myopathy 22A, classic (CMYP22A) [MIM:620351] SCN4A P35499 VAR_065230 p.Arg225Trp LP/P rs764718003 Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_065231 p.Ile693Thr LP/P rs80338956 Paramyotonia congenita (PMC) [MIM:168300] SCN4A P35499 VAR_074581 p.Gln1633Glu LP/P - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_074598 p.Pro72Leu US rs1303471186 - SCN4A P35499 VAR_075430 p.Arg104His LP/P rs1248025530 Congenital myopathy 22A, classic (CMYP22A) [MIM:620351] SCN4A P35499 VAR_075431 p.Met203Lys LP/P rs933258893 Congenital myopathy 22B, severe fetal (CMYP22B) [MIM:620369] SCN4A P35499 VAR_075432 p.Pro382Thr LP/P - Congenital myopathy 22B, severe fetal (CMYP22B) [MIM:620369] SCN4A P35499 VAR_075433 p.Asp1069Asn LP/P rs373150395 Congenital myopathy 22A, classic (CMYP22A) [MIM:620351] SCN4A P35499 VAR_075434 p.Arg1135Cys LP/P rs1287863349 Congenital myopathy 22A, classic (CMYP22A) [MIM:620351] SCN4A P35499 VAR_075434 p.Arg1135Cys LP/P rs1287863349 Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_075435 p.Cys1209Phe LP/P - Congenital myopathy 22A, classic (CMYP22A) [MIM:620351] SCN4A P35499 VAR_075436 p.Arg1454Trp LP/P rs879253789 Congenital myopathy 22A, classic (CMYP22A) [MIM:620351] SCN4A P35499 VAR_075436 p.Arg1454Trp LP/P rs879253789 Myasthenic syndrome, congenital, 16 (CMS16) [MIM:614198] SCN4A P35499 VAR_075437 p.Arg1457His LP/P rs863225046 Myasthenic syndrome, congenital, 16 (CMS16) [MIM:614198] SCN4A P35499 VAR_079519 p.Phe1290Leu LP/P - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_088556 p.Cys375Arg LP/P - Congenital myopathy 22A, classic (CMYP22A) [MIM:620351] SCN4A P35499 VAR_088557 p.Arg1142Gln LP/P - Congenital myopathy 22A, classic (CMYP22A) [MIM:620351] SCN4A P35499 VAR_088558 p.Asn1205Lys US - Congenital myopathy 22A, classic (CMYP22A) [MIM:620351] SCN4A P35499 VAR_088559 p.Gly1537Ser US rs571210585 - SCN4B Q8IWT1 VAR_043488 p.Leu179Phe LP/P rs121434386 Long QT syndrome 10 (LQT10) [MIM:611819] SCN4B Q8IWT1 VAR_071317 p.Val162Gly LP/P rs587777559 Atrial fibrillation, familial, 17 (ATFB17) [MIM:611819] SCN4B Q8IWT1 VAR_071318 p.Ile166Leu LP/P rs587777560 Atrial fibrillation, familial, 17 (ATFB17) [MIM:611819] SCN5A Q14524 VAR_001577 p.Asn1325Ser LP/P rs28937317 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_001578 p.Arg1623Gln LP/P rs137854600 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_001578 p.Arg1623Gln LP/P rs137854600 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_001579 p.Arg1644His LP/P rs28937316 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_001580 p.Asp1790Gly LP/P rs199473317 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_001581 p.Asp1839Gly LP/P rs199473321 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_008955 p.His558Arg LB/B rs1805124 - SCN5A Q14524 VAR_008956 p.Thr1304Met LP/P rs199473603 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_008957 p.Lys1500Asn LB/B rs199473265 - SCN5A Q14524 VAR_008958 p.Thr1645Met LP/P rs199473288 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_008959 p.Glu1784Lys LP/P rs137854601 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_008959 p.Glu1784Lys LP/P rs137854601 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_009935 p.Asp1114Asn LP/P rs199473195 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_009936 p.Leu1501Val LP/P rs199473266 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_009936 p.Leu1501Val LP/P rs199473266 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_009937 p.Arg1623Leu LP/P rs137854600 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_009938 p.Ser1787Asn LB/B rs199473316 - SCN5A Q14524 VAR_014464 p.Pro1090Leu LB/B rs1805125 - SCN5A Q14524 VAR_015682 p.Leu619Phe LP/P rs199473133 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_015682 p.Leu619Phe LP/P rs199473133 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_017670 p.Thr220Ile LP/P rs45620037 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017670 p.Thr220Ile LP/P rs45620037 Sick sinus syndrome 1 (SSS1) [MIM:608567] SCN5A Q14524 VAR_017671 p.Gly298Ser LP/P rs137854608 Progressive familial heart block 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_017672 p.Arg367His LP/P rs28937318 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017673 p.Gly514Cys LP/P rs137854606 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017673 p.Gly514Cys LP/P rs137854606 Progressive familial heart block 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_017674 p.Ala735Val LP/P rs137854611 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017674 p.Ala735Val LP/P rs137854611 Sick sinus syndrome 1 (SSS1) [MIM:608567] SCN5A Q14524 VAR_017675 p.Ser941Asn LP/P rs137854605 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_017676 p.Ala997Ser LP/P rs137854609 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_017677 p.Ser1103Tyr LB/B rs7626962 - SCN5A Q14524 VAR_017678 p.Arg1193Gln LP/P rs41261344 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017678 p.Arg1193Gln LP/P rs41261344 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_017679 p.Arg1232Trp LP/P rs199473207 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017679 p.Arg1232Trp LP/P rs199473207 Progressive familial heart block 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_017680 p.Pro1298Leu LP/P rs28937319 Sick sinus syndrome 1 (SSS1) [MIM:608567] SCN5A Q14524 VAR_017681 p.Gly1408Arg LP/P rs137854612 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017681 p.Gly1408Arg LP/P rs137854612 Sick sinus syndrome 1 (SSS1) [MIM:608567] SCN5A Q14524 VAR_017682 p.Arg1512Trp LP/P rs137854602 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017683 p.Asp1595Asn LP/P rs137854607 Progressive familial heart block 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_017684 p.Thr1620Met LP/P rs199473282 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017685 p.Ser1710Leu LP/P rs137854604 Familial paroxysmal ventricular fibrillation 1 (VF1) [MIM:603829] SCN5A Q14524 VAR_017687 p.Arg1826His LP/P rs137854610 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_017688 p.Ala1924Thr LP/P rs137854603 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_019123 p.Tyr1795Cys LP/P rs137854614 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_019124 p.Tyr1795His LP/P rs137854615 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026341 p.Arg27His LP/P rs199473045 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026341 p.Arg27His LP/P rs199473045 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_026342 p.Arg34Cys LB/B rs6791924 - SCN5A Q14524 VAR_026343 p.Lys126Glu LP/P rs185492581 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026344 p.Glu161Lys LP/P rs199473062 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026344 p.Glu161Lys LP/P rs199473062 Progressive familial heart block 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_026345 p.Thr187Ile LP/P rs199473558 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026346 p.Ala226Val LP/P rs199473561 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026347 p.Ile230Val LP/P rs199473074 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026348 p.Arg282His LP/P rs199473083 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026349 p.Val294Met LP/P rs199473086 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026350 p.Gly319Ser LP/P rs199473090 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026351 p.Gly351Val LP/P rs199473095 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026352 p.Asp356Asn LP/P rs199473565 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026353 p.Arg367Cys LP/P rs199473097 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026353 p.Arg367Cys LP/P rs199473097 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_026354 p.Met369Lys LP/P rs199473098 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026356 p.Gly552Arg LP/P rs3918389 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026357 p.Leu567Gln LP/P rs199473124 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026358 p.Gly615Glu LP/P rs12720452 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026358 p.Gly615Glu LP/P rs12720452 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_026359 p.His681Pro LP/P rs199473143 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026360 p.Ala735Glu LP/P rs137854611 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026361 p.Gly752Arg LP/P rs199473153 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026361 p.Gly752Arg LP/P rs199473153 Progressive familial heart block 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_026362 p.Phe851Leu LP/P rs199473586 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026363 p.Phe892Ile LP/P rs199473170 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026364 p.Cys896Ser LP/P rs199473173 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026365 p.Ser910Leu LP/P rs199473175 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026366 p.Arg965Cys LP/P rs199473180 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026367 p.Arg1027Gln LB/B rs763891399 - SCN5A Q14524 VAR_026368 p.Glu1053Lys LP/P rs137854617 Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_026368 p.Glu1053Lys LP/P rs137854617 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026368 p.Glu1053Lys LP/P rs137854617 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_026369 p.Glu1225Lys LP/P rs199473204 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026369 p.Glu1225Lys LP/P rs199473204 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_026370 p.Lys1236Asn LP/P rs199473208 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026371 p.Glu1240Gln LB/B rs199473211 - SCN5A Q14524 VAR_026372 p.Phe1250Leu LP/P rs45589741 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_026373 p.Asp1275Asn LP/P rs137854618 Atrial standstill 1 (ATRST1) [MIM:108770] SCN5A Q14524 VAR_026373 p.Asp1275Asn LP/P rs137854618 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026373 p.Asp1275Asn LP/P rs137854618 Cardiomyopathy, dilated, 1E (CMD1E) [MIM:601154] SCN5A Q14524 VAR_026373 p.Asp1275Asn LP/P rs137854618 Progressive familial heart block 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_026374 p.Phe1293Ser US rs41311127 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026375 p.Gly1319Val LP/P rs199473220 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026376 p.Phe1344Ser LP/P rs199473229 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026377 p.Ser1382Ile LP/P rs199473608 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026378 p.Val1405Leu LP/P rs199473239 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026379 p.Gly1406Arg LP/P rs199473240 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026382 p.Gly1502Ser LP/P rs199473267 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026383 p.Asp1714Gly LP/P rs199473628 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026384 p.Gly1740Arg LP/P rs199473304 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026385 p.Gly1743Glu LP/P rs199473629 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026386 p.Val1951Leu US rs41315493 Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_026386 p.Val1951Leu US rs41315493 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026386 p.Val1951Leu US rs41315493 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_036660 p.Gly9Val LP/P rs199473043 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_036661 p.Arg225Gln LP/P rs199473071 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_036662 p.Thr512Ile LP/P rs199473118 Progressive familial heart block 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_036663 p.Ser524Tyr LB/B rs41313691 - SCN5A Q14524 VAR_036664 p.Gly639Arg LP/P rs199473136 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_036665 p.Gly1262Ser US rs137854616 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_036666 p.Ser1333Tyr LP/P rs199473604 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_036666 p.Ser1333Tyr LP/P rs199473604 Sudden infant death syndrome (SIDS) [MIM:272120] SCN5A Q14524 VAR_036667 p.Ser1609Trp LP/P rs199473622 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_036668 p.Asp1819Asn LP/P rs137854619 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_047360 p.Leu618Phe LB/B rs45488304 - SCN5A Q14524 VAR_047361 p.Asp1041Asn LB/B rs45491996 - SCN5A Q14524 VAR_047362 p.Ala1180Val LB/B rs41310765 - SCN5A Q14524 VAR_055159 p.Arg43Gln LP/P rs199473047 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055160 p.Val95Ile LP/P rs199473054 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055161 p.Met138Ile LP/P rs199473060 Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055162 p.Leu212Pro LP/P rs199473070 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055163 p.Ser216Leu US rs41276525 Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055163 p.Ser216Leu US rs41276525 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055164 p.Arg225Trp LP/P rs199473072 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055164 p.Arg225Trp LP/P rs199473072 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055164 p.Arg225Trp LP/P rs199473072 Progressive familial heart block 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_055165 p.Val232Ile US rs45471994 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055166 p.Leu325Arg US rs199473092 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055167 p.Pro336Leu LP/P rs199473093 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055168 p.Thr353Ile LP/P rs199473096 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055169 p.Arg376His US rs199473101 Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055169 p.Arg376His US rs199473101 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055170 p.Asn406Lys LP/P rs199473108 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055171 p.Asn406Ser LP/P rs199473568 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055172 p.Glu428Lys LP/P rs199473111 Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055173 p.His445Asp LP/P rs199473112 Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055174 p.Leu461Val LB/B rs41313697 - SCN5A Q14524 VAR_055175 p.Asn470Lys LP/P rs199473115 Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055176 p.Arg481Trp LB/B rs144511230 - SCN5A Q14524 VAR_055177 p.Phe532Cys LP/P rs199473573 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055177 p.Phe532Cys LP/P rs199473573 Sudden infant death syndrome (SIDS) [MIM:272120] SCN5A Q14524 VAR_055178 p.Ala572Asp LP/P rs36210423 Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055178 p.Ala572Asp LP/P rs36210423 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055180 p.Glu655Lys LP/P rs199473579 Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055181 p.Arg680His LP/P rs199473142 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055182 p.Arg814Gln LP/P rs199473584 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055183 p.Arg878Cys LP/P rs199473168 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055184 p.Arg1023His LP/P rs199473592 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055185 p.Gly1084Ser US rs199473190 Sudden infant death syndrome (SIDS) [MIM:272120] SCN5A Q14524 VAR_055186 p.Thr1131Ile LP/P rs199473197 Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055187 p.Glu1295Lys LP/P rs199473218 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055188 p.Leu1308Phe LB/B rs41313031 - SCN5A Q14524 VAR_055189 p.Ala1330Pro LP/P rs199473224 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055190 p.Ala1330Thr LP/P rs199473224 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055191 p.Pro1332Leu US rs199473225 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055192 p.Arg1432Gly US rs199473245 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055193 p.Pro1438Leu US rs199473248 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055194 p.Phe1473Cys LP/P rs199473256 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055195 p.Phe1486Leu LP/P rs199473615 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055196 p.Tyr1494Asn LP/P rs199473261 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055198 p.Lys1527Arg LP/P rs199473270 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055199 p.Ala1569Pro LP/P rs199473273 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055201 p.Thr1620Lys LP/P rs199473282 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055201 p.Thr1620Lys LP/P rs199473282 Progressive familial heart block 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_055202 p.Arg1626Pro US rs199473283 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055203 p.Arg1644Cys LP/P rs199473287 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055204 p.Ala1649Val LP/P rs199473289 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055205 p.Met1652Arg LP/P rs199473291 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055206 p.Ile1660Val LP/P rs199473625 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055206 p.Ile1660Val LP/P rs199473625 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055207 p.Phe1705Ser LP/P rs199473627 Sudden infant death syndrome (SIDS) [MIM:272120] SCN5A Q14524 VAR_055208 p.Gly1743Arg LP/P rs199473305 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055209 p.Val1763Met LP/P rs199473631 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055210 p.Met1766Leu LP/P rs199473310 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055211 p.Ile1768Val LP/P rs199473311 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055212 p.Val1777Met LP/P rs199473314 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055213 p.Leu1825Pro LP/P rs79299226 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055214 p.Arg1826Cys LP/P rs199473635 Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055215 p.Cys1850Ser LP/P rs199473322 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055216 p.Met1875Thr LB/B rs199473324 - SCN5A Q14524 VAR_055217 p.Ser1904Leu LP/P rs150264233 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055218 p.Gly1935Ser US rs199473637 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055219 p.Val1951Met LP/P rs41315493 Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055220 p.Ile1968Ser LP/P rs199473639 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055221 p.Phe2004Leu LP/P rs41311117 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055221 p.Phe2004Leu LP/P rs41311117 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055222 p.Pro2006Ala US rs45489199 - SCN5A Q14524 VAR_065865 p.Asn1987Lys LP/P rs199473335 Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_068325 p.Arg18Trp US rs199473044 - SCN5A Q14524 VAR_068326 p.Val125Leu LP/P rs199473059 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_068327 p.Gln245Lys LP/P rs199473077 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_068328 p.Leu404Gln LP/P rs199473107 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_068329 p.Val411Met LP/P rs72549410 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_068330 p.Glu462Lys LP/P rs199473572 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_068331 p.Pro637Leu LP/P rs199473135 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_068332 p.Pro648Leu LP/P rs45609733 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_068332 p.Pro648Leu LP/P rs45609733 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_068333 p.Arg971Cys LP/P rs61737825 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_068334 p.Thr1069Met LP/P rs199473187 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_068335 p.Glu1231Lys LP/P rs199473598 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_068336 p.Ser1458Tyr LP/P rs199473253 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_068337 p.Gly1481Glu LP/P rs199473257 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_068338 p.Val1667Ile LP/P rs199473293 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_068338 p.Val1667Ile LP/P rs199473293 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_068339 p.Thr1779Met LP/P rs199473634 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_068339 p.Thr1779Met LP/P rs199473634 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_068340 p.Gln1909Arg LP/P rs199473326 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_068341 p.Ala1949Ser LP/P rs199473330 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_068342 p.Arg1958Gln US rs199473331 - SCN5A Q14524 VAR_068475 p.Asp1792Asn LP/P rs727504495 Sick sinus syndrome 1 (SSS1) [MIM:608567] SCN5A Q14524 VAR_074312 p.Arg18Gln US rs41311087 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074312 p.Arg18Gln US rs41311087 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074313 p.Arg34His LB/B rs199473046 - SCN5A Q14524 VAR_074314 p.Asn70Lys US rs199473050 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074315 p.Asp84Asn US rs199473051 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074316 p.Phe93Ser US rs199473052 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074317 p.Ile94Ser US rs199473053 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074318 p.Arg104Gln US rs199473554 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074319 p.Arg104Trp US rs199473055 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074320 p.Asn109Lys US rs199473056 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074321 p.Arg121Gln US rs199473058 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074322 p.Arg121Trp US rs199473556 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074323 p.Leu136Pro US rs199473557 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074324 p.Val146Met US rs199473061 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074325 p.Glu161Gln US rs199473062 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074326 p.Lys175Asn US rs199473063 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074327 p.Ala178Gly US rs199473065 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074328 p.Cys182Arg US rs199473066 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074329 p.Ala185Val US rs199473067 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074330 p.Ala204Val US rs199473559 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074331 p.Leu212Gln US rs199473070 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074332 p.Arg222Gln LP/P rs45546039 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074332 p.Arg222Gln LP/P rs45546039 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074333 p.Val223Leu US rs199473560 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074334 p.Val240Met LP/P rs199473076 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074334 p.Val240Met LP/P rs199473076 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074335 p.Gln270Lys US rs199473079 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074336 p.Leu276Gln US rs199473081 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074337 p.His278Asp US rs199473562 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074338 p.Arg282Cys US rs199473082 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074339 p.Ala286Ser LB/B rs61746118 - SCN5A Q14524 VAR_074340 p.Asn291Ser LB/B rs199473563 - SCN5A Q14524 VAR_074341 p.Leu299Met LB/B rs199473087 - SCN5A Q14524 VAR_074342 p.Val300Ile US rs199473088 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074343 p.Leu315Pro US rs199473564 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074344 p.Thr320Asn US rs199473091 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074345 p.Gly351Asp US rs199473095 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074346 p.Arg367Leu US rs28937318 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074347 p.Trp374Gly US rs199473566 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074348 p.Arg376Cys LB/B rs199473100 - SCN5A Q14524 VAR_074349 p.Gly386Glu US rs199473567 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074350 p.Gly386Arg US rs199473102 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074351 p.Val396Ala US rs199473103 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074352 p.Val396Leu US rs199473104 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074353 p.Glu439Lys US rs199473570 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074354 p.Ala447Gly LB/B rs199473113 - SCN5A Q14524 VAR_074355 p.Thr449Ala LB/B rs199473571 - SCN5A Q14524 VAR_074356 p.Arg475Ser LB/B rs199473116 - SCN5A Q14524 VAR_074357 p.Asp501Gly US rs199473117 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074358 p.Arg526His US rs45627438 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074359 p.Phe543Leu US rs199473122 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074360 p.Arg568His LB/B rs199473125 - SCN5A Q14524 VAR_074361 p.Gly579Arg US rs199473128 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074362 p.Asn592Lys LB/B rs199473130 - SCN5A Q14524 VAR_074363 p.Asp596Gly LB/B rs199473131 - SCN5A Q14524 VAR_074364 p.Val601Ala LB/B rs199473132 - SCN5A Q14524 VAR_074365 p.Arg620Cys US rs199473577 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074366 p.Thr632Met US rs199473134 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074367 p.Gly638Asp LB/B rs199473578 - SCN5A Q14524 VAR_074368 p.Pro640Ala US rs199473137 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074369 p.Ala647Asp US rs185638763 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074370 p.Pro656Leu LB/B rs41313681 - SCN5A Q14524 VAR_074371 p.Arg661Trp US rs199473139 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074372 p.Ala672Thr LB/B rs199473140 - SCN5A Q14524 VAR_074373 p.Cys683Gly US rs199473144 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074374 p.Arg689His US rs199473145 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074375 p.Gln692Lys LB/B rs45553235 - SCN5A Q14524 VAR_074376 p.Pro701Leu LP/P rs199473147 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074376 p.Pro701Leu LP/P rs199473147 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074377 p.Ser705Phe LB/B rs199473148 - SCN5A Q14524 VAR_074378 p.Pro717Leu US rs199473149 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074379 p.Glu746Lys US rs199473582 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074380 p.Gly758Glu US rs199473154 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074381 p.Met764Arg US rs199473156 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074382 p.Asp772Asn LP/P rs199473157 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074382 p.Asp772Asn LP/P rs199473157 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074383 p.Pro773Ser US rs199473158 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074384 p.Val789Ile US rs199473159 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074385 p.Arg808Pro US rs199473160 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074386 p.Leu839Pro US rs199473164 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074387 p.Glu867Gln US rs199473167 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074388 p.Arg878His US rs199473587 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074389 p.His886Pro US rs199473169 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074390 p.Arg893Cys US rs199473171 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074391 p.Arg893His US rs199473172 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074392 p.Glu901Lys US rs199473174 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074393 p.Cys915Arg US rs199473588 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074394 p.Leu917Arg US rs199473176 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074395 p.Val924Ile LB/B rs199473177 - SCN5A Q14524 VAR_074396 p.Asn927Ser US rs199473589 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074397 p.Leu928Pro US rs199473178 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074398 p.Leu935Pro US rs199473179 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074399 p.Arg965His US rs199473181 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074400 p.Arg986Gln LB/B rs41313667 - SCN5A Q14524 VAR_074401 p.Ala997Thr US rs137854609 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074402 p.Thr1016Met LB/B rs199473185 - SCN5A Q14524 VAR_074403 p.Gly1040Arg LB/B rs199473186 - SCN5A Q14524 VAR_074404 p.Asp1055Gly US rs199473593 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074405 p.Ser1079Tyr US rs199473188 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074406 p.Val1082Ala LB/B rs199473189 - SCN5A Q14524 VAR_074407 p.Val1098Leu LB/B rs199473191 - SCN5A Q14524 VAR_074408 p.Glu1107Lys LB/B rs199473193 - SCN5A Q14524 VAR_074409 p.Ala1113Val US rs199473194 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074410 p.Arg1116Trp LB/B rs199473196 - SCN5A Q14524 VAR_074411 p.Ser1140Thr US rs199473199 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074412 p.Ser1219Asn US rs199473597 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074413 p.Tyr1228His US rs199473205 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074414 p.Arg1232Gln US rs199473206 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074415 p.Leu1239Pro US rs199473210 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074416 p.Asp1243Asn US rs199473599 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074417 p.Val1249Asp US rs199473213 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074418 p.Val1251Met LB/B rs199473600 - SCN5A Q14524 VAR_074419 p.Glu1253Gly US rs199473214 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074420 p.Trp1271Cys US rs199473601 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074421 p.Ala1288Gly US rs199473217 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074422 p.Leu1311Pro US rs199473219 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074423 p.Val1323Gly US rs199473221 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074424 p.Phe1344Leu US rs199473228 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074425 p.Leu1346Ile US rs199473230 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074426 p.Leu1346Pro US rs199473231 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074427 p.Met1351Arg US rs199473232 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074428 p.Val1353Met US rs199473233 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074429 p.Gly1358Trp US rs199473234 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074430 p.Lys1359Asn US rs199473235 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074431 p.Phe1360Cys US rs199473236 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074432 p.Cys1363Tyr US rs199473237 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074433 p.Val1405Met US rs199473239 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074434 p.Gly1406Glu US rs199473609 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074435 p.Tyr1409Cys US rs199473610 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074436 p.Leu1412Phe US rs199473241 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074437 p.Lys1419Glu US rs199473242 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074438 p.Gly1420Arg US rs199473611 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074439 p.Ala1427Ser US rs199473244 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074440 p.Ala1428Val US rs199473612 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074441 p.Arg1432Ser LP/P rs199473246 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074441 p.Arg1432Ser LP/P rs199473246 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074442 p.Gly1433Val US rs199473247 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074443 p.Glu1441Gln US rs199473249 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074444 p.Ile1448Leu US rs199473250 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074445 p.Ile1448Thr US rs199473251 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074446 p.Tyr1449Cys US rs199473613 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074447 p.Val1451Asp US rs199473252 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074448 p.Asn1463Tyr US rs199473614 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074449 p.Val1468Phe US rs199473254 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074450 p.Ile1521Lys US rs199473617 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074451 p.Val1525Met US rs199473269 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074452 p.Glu1548Lys US rs199473271 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074453 p.Phe1571Cys US rs199473274 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074454 p.Glu1574Lys US rs199473620 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074455 p.Leu1582Pro US rs199473275 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074456 p.Arg1583Cys US rs45514691 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074457 p.Arg1583His US rs199473621 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074458 p.Val1604Met US rs199473280 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074459 p.Gln1613Leu US rs199473281 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074460 p.Arg1629Gln LP/P rs199473623 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074461 p.Gly1642Glu US rs199473624 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074462 p.Gly1661Arg US rs199473292 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074463 p.Ser1672Tyr US rs199473626 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074464 p.Ala1680Thr US rs199473294 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074465 p.Ala1698Thr US rs199473295 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074466 p.Thr1709Met US rs199473297 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074467 p.Thr1709Arg US rs199473297 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074468 p.Gly1712Ser US rs199473298 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074469 p.Asn1722Asp US rs199473299 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074470 p.Cys1728Arg US rs199473302 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074471 p.Cys1728Trp US rs193922726 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074472 p.Val1764Phe US rs199473309 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074473 p.Gln1832Glu US rs199473320 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074474 p.Ile1836Thr LB/B rs45563942 - SCN5A Q14524 VAR_074475 p.Val1861Ile US rs199473636 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074476 p.Lys1872Asn US rs199473323 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074477 p.Glu1901Lys LB/B rs199473325 - SCN5A Q14524 VAR_074478 p.Val1903Leu US rs864622270 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074479 p.Arg1919Cys LB/B rs199473328 - SCN5A Q14524 VAR_074480 p.Glu1938Lys US rs199473329 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074481 p.Pro1962Leu LB/B rs199473638 - SCN5A Q14524 VAR_074482 p.Ile1968Met LB/B rs199473333 - SCN5A Q14524 VAR_074483 p.Arg1991Gln LB/B rs199473336 - SCN5A Q14524 VAR_074484 p.Phe2004Val LP/P rs41311117 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_074484 p.Phe2004Val LP/P rs41311117 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074695 p.Glu30Gly US rs199473551 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074696 p.Glu48Lys US rs199473048 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074697 p.Pro52Ser US rs199473553 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074698 p.Arg53Gln US rs199473049 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074699 p.Arg104Gly US rs199473055 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074700 p.Ser115Gly US rs199473057 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074701 p.Val247Leu US rs199473078 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074702 p.Asn275Lys US rs199473080 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074703 p.Gly289Ser US rs199473084 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074704 p.Arg340Trp US rs199473094 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074705 p.Thr370Met US rs199473099 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074706 p.Ile397Thr US rs199473105 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074707 p.Leu409Val US rs199473109 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074708 p.Ala413Glu US rs199473569 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074709 p.Ala413Thr US rs199473110 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074711 p.Glu462Ala US rs199473114 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074712 p.Phe530Val US rs199473120 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074713 p.Arg535Gln US rs199473121 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074714 p.Arg569Trp US rs199473576 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074715 p.Ser571Ile US rs199473126 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074716 p.Ala572Ser US rs184442491 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074717 p.Ala572Val US rs36210423 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074718 p.Gln573Glu US rs199473127 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074719 p.Glu654Lys US rs199473138 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074720 p.Leu673Pro US rs199473141 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074721 p.Arg689Cys US rs199473580 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074722 p.Thr731Ile US rs199473150 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074723 p.Gln750Arg US rs199473152 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074724 p.Phe816Tyr US rs199473162 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074725 p.Ile848Phe US rs199473166 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074726 p.Gln960Lys US rs199473590 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074727 p.Arg965Leu US rs199473181 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074728 p.Cys981Phe US rs199473591 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074729 p.Cys1004Arg US rs199473183 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074730 p.Ala1100Val US rs199473192 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074731 p.Asp1166Asn US rs199473594 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074732 p.Tyr1199Ser US rs199473202 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074734 p.Leu1283Met US rs199473216 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074735 p.Ala1326Ser US rs199473222 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074736 p.Ile1334Val US rs199473226 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074737 p.Leu1338Val US rs199473227 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074738 p.Asn1472Ser US rs199473255 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074739 p.Met1487Leu US rs199473258 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074740 p.Thr1488Arg US rs199473259 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074741 p.Glu1489Asp US rs199473616 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074742 p.Lys1493Arg US rs199473260 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074743 p.Tyr1495Ser US rs199473262 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074744 p.Met1498Thr US rs199473263 - SCN5A Q14524 VAR_074745 p.Met1498Val US rs199473264 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074746 p.Lys1505Asn US rs199473268 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074747 p.Val1532Ile US rs199473618 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074748 p.Leu1560Phe US rs199473619 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074749 p.Ile1593Met US rs199473276 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074750 p.Phe1594Ser US rs199473277 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074751 p.Phe1596Ile US rs199473278 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074752 p.Arg1626His US rs199473283 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074753 p.Leu1650Phe US rs199473290 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074754 p.Met1652Thr US rs199473291 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074755 p.Thr1723Asn US rs199473300 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074756 p.Arg1739Trp US rs199473303 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074757 p.Leu1761Phe US rs199473307 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074758 p.Leu1761His US rs199473308 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074759 p.Tyr1767Cys US rs199473632 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074760 p.Arg1897Trp US rs45465995 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074761 p.Glu1901Gln US rs199473325 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074762 p.Arg1913His US rs199473327 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074763 p.Tyr1977Asn US rs199473334 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_074764 p.Arg2012Cys US rs199473640 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_076555 p.Leu812Gln LP/P - Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_076556 p.Lys817Glu LP/P - Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_076557 p.Asp1690Asn LP/P rs1060499900 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_076558 p.Gly1748Asp LP/P - Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_076559 p.His1849Arg LP/P rs794728898 Long QT syndrome 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_085793 p.Phe1571Leu LP/P rs1369632373 Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN7A Q01118 VAR_024410 p.Ile407Val LB/B rs11888208 - SCN7A Q01118 VAR_055641 p.Met600Leu LB/B rs34183637 - SCN7A Q01118 VAR_055642 p.Ala1313Val LB/B rs6760593 - SCN7A Q01118 VAR_055643 p.Arg1516Lys LB/B rs34799257 - SCN7A Q01118 VAR_055644 p.Val1596Leu LB/B rs3791251 - SCN7A Q01118 VAR_055645 p.Asp1657Gly LB/B rs35344714 - SCN7A Q01118 VAR_063120 p.Thr41Asn LB/B rs7565062 - SCN7A Q01118 VAR_063121 p.Met958Ile LB/B rs6738031 - SCN8A Q9UQD0 VAR_067539 p.Asn1768Asp LP/P rs202151337 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_071674 p.Val216Asp LP/P rs879255696 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_071675 p.Phe846Ser LP/P rs879255700 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_071676 p.Ile1327Val LP/P rs879255704 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_071677 p.Asn1466Lys LP/P rs587777722 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_071678 p.Asn1466Thr LP/P rs587777723 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_071679 p.Arg1617Gln LP/P rs587777721 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_071680 p.Ala1650Thr LP/P rs879255709 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_071681 p.Arg1872Trp LP/P rs796053228 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_072182 p.Arg223Gly LP/P rs672601319 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_072183 p.Thr767Ile LP/P rs797045013 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076598 p.Asp58Asn US - Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076599 p.Asn215Arg US - Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076600 p.Phe260Ser US rs879255697 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076601 p.Leu407Phe US rs879255698 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076602 p.Val410Leu US rs879255699 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076603 p.Glu479Val US - Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076604 p.Arg850Gln US rs587780586 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076605 p.Ala890Thr LP/P rs879255702 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076606 p.Val960Asp US rs879255703 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076607 p.Asn984Lys LP/P rs876657399 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076608 p.Leu1331Val US rs397514738 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076609 p.Gly1451Ser LP/P rs863223345 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076610 p.Ile1479Val US rs796053217 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076611 p.Val1592Leu US rs587780454 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076612 p.Ser1596Cys US rs879255705 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076613 p.Ile1605Arg US - Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076614 p.Gln1801Glu US rs879255710 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076615 p.Arg1872Leu LP/P rs796053229 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076616 p.Arg1872Gln LP/P rs796053229 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076617 p.Asn1877Ser LP/P rs587780455 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_076617 p.Asn1877Ser LP/P rs587780455 Seizures, benign familial infantile, 5 (BFIS5) [MIM:617080] SCN8A Q9UQD0 VAR_076927 p.Glu1483Lys LP/P rs879255652 Seizures, benign familial infantile, 5 (BFIS5) [MIM:617080] SCN8A Q9UQD0 VAR_078202 p.Asn307Ser US rs1057519557 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_078203 p.Ser978Gly LP/P rs1057519540 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_078204 p.Gly1475Arg LP/P rs796053216 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_078612 p.Arg662Cys US rs76222829 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_078613 p.Leu1279Val LP/P - Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_078752 p.Phe210Leu LP/P - Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_078753 p.Ala408Thr US - Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_078754 p.Ala1323Ser US - Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_078755 p.Phe1754Ser US - Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_078756 p.Leu1865Pro US - Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_079722 p.Ser232Pro LP/P - Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_079723 p.Arg850Glu LP/P - Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_079724 p.Val891Met LP/P rs1592149793 Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_079725 p.Val1598Ala LP/P - Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558] SCN8A Q9UQD0 VAR_082076 p.Pro1719Arg LP/P rs1565934070 Myoclonus, familial, 2 (MYOCL2) [MIM:618364] SCN9A Q15858 VAR_019947 p.Ile859Thr LP/P rs80356474 Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_019948 p.Leu869His LP/P rs80356475 Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_019949 p.Trp1161Arg LB/B rs6746030 - SCN9A Q15858 VAR_019950 p.Asp1919Gly LB/B rs3750904 - SCN9A Q15858 VAR_030444 p.Met932Leu LB/B rs12478318 - SCN9A Q15858 VAR_032014 p.Ser241Thr LP/P rs80356470 Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_032015 p.Arg1007Cys LP/P rs121908910 Paroxysmal extreme pain disorder (PEXPD) [MIM:167400] SCN9A Q15858 VAR_032016 p.Val1309Asp LP/P rs121908911 Paroxysmal extreme pain disorder (PEXPD) [MIM:167400] SCN9A Q15858 VAR_032017 p.Val1309Phe LP/P rs121908912 Paroxysmal extreme pain disorder (PEXPD) [MIM:167400] SCN9A Q15858 VAR_032018 p.Val1310Phe LP/P rs121908913 Paroxysmal extreme pain disorder (PEXPD) [MIM:167400] SCN9A Q15858 VAR_032019 p.Phe1460Val LP/P rs80356478 Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_032020 p.Ile1472Thr LP/P rs121908914 Paroxysmal extreme pain disorder (PEXPD) [MIM:167400] SCN9A Q15858 VAR_032021 p.Phe1473Val LP/P rs1553474394 Paroxysmal extreme pain disorder (PEXPD) [MIM:167400] SCN9A Q15858 VAR_032022 p.Thr1475Ile LP/P rs121908915 Paroxysmal extreme pain disorder (PEXPD) [MIM:167400] SCN9A Q15858 VAR_032023 p.Met1638Lys LP/P - Paroxysmal extreme pain disorder (PEXPD) [MIM:167400] SCN9A Q15858 VAR_055646 p.Met943Leu LB/B rs12478318 - SCN9A Q15858 VAR_064595 p.Gln10Arg LP/P rs267607030 Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_064596 p.Ile62Val US rs121908920 - SCN9A Q15858 VAR_064597 p.Pro149Gln US rs121908921 - SCN9A Q15858 VAR_064598 p.Phe216Ser LP/P rs80356469 Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_064599 p.Ile228Met LB/B rs71428908 - SCN9A Q15858 VAR_064600 p.Asn395Lys LP/P rs80356471 Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_064602 p.Ser490Asn LB/B rs58022607 - SCN9A Q15858 VAR_064603 p.Glu519Lys LB/B rs187453572 - SCN9A Q15858 VAR_064604 p.Asn641Tyr US rs121908918 - SCN9A Q15858 VAR_064605 p.Lys666Arg LB/B rs121908919 - SCN9A Q15858 VAR_064606 p.Ile695Met LB/B rs199588089 - SCN9A Q15858 VAR_064607 p.Cys710Tyr US rs201709980 - SCN9A Q15858 VAR_064608 p.Ile750Val LB/B rs182650126 - SCN9A Q15858 VAR_064609 p.Leu869Phe LP/P rs80356476 Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_064610 p.Arg907Gln LP/P rs1024152367 Indifference to pain, congenital, autosomal recessive (CIP) [MIM:243000] SCN9A Q15858 VAR_064611 p.Leu1134Phe LB/B rs200160858 - SCN9A Q15858 VAR_064612 p.Glu1171Gln US - - SCN9A Q15858 VAR_064613 p.Leu1278Val LB/B rs180922748 - SCN9A Q15858 VAR_072279 p.Leu1623Pro LP/P rs1131691776 Paroxysmal extreme pain disorder (PEXPD) [MIM:167400] SCN9A Q15858 VAR_072280 p.Ala1643Glu LP/P rs879253994 Paroxysmal extreme pain disorder (PEXPD) [MIM:167400] SCN9A Q15858 VAR_072280 p.Ala1643Glu LP/P rs879253994 Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_072281 p.Ala1643Thr LP/P - Primary erythermalgia (PERYTHM) [MIM:133020] SCNM1 Q9BWG6 VAR_087730 p.Pro51Gln LP/P - Orofaciodigital syndrome 19 (OFD19) [MIM:620107] SCNN1A P37088 VAR_015833 p.Trp493Arg LB/B rs5742912 - SCNN1A P37088 VAR_015834 p.Ser562Leu LP/P rs137852635 Pseudohypoaldosteronism 1B1, autosomal recessive (PHA1B1) [MIM:264350] SCNN1A P37088 VAR_015835 p.Thr663Ala LB/B rs2228576 - SCNN1A P37088 VAR_022142 p.Cys618Phe LB/B rs3741913 - SCNN1A P37088 VAR_026518 p.Gly327Cys LP/P rs974854786 Pseudohypoaldosteronism 1B1, autosomal recessive (PHA1B1) [MIM:264350] SCNN1A P37088 VAR_052035 p.Pro402His LB/B rs13306616 - SCNN1A P37088 VAR_060793 p.Phe61Leu LP/P rs61758859 Bronchiectasis with or without elevated sweat chloride 2 (BESC2) [MIM:613021] SCNN1A P37088 VAR_060794 p.Val114Ile LP/P rs61759861 Bronchiectasis with or without elevated sweat chloride 2 (BESC2) [MIM:613021] SCNN1A P37088 VAR_060795 p.Arg181Trp LB/B rs55797039 - SCNN1A P37088 VAR_060796 p.Ala334Thr LB/B rs11542844 - SCNN1A P37088 VAR_060797 p.Val573Ile LB/B rs59142484 - SCNN1A P37088 VAR_081179 p.Cys479Arg LP/P rs201873521 Liddle syndrome 3 (LIDLS3) [MIM:618126] SCNN1B P51168 VAR_007127 p.Gly37Ser LP/P rs137852706 Pseudohypoaldosteronism 1B2, autosomal recessive (PHA1B2) [MIM:620125] SCNN1B P51168 VAR_007128 p.Pro616Leu LP/P rs387906402 Liddle syndrome 1 (LIDLS1) [MIM:177200] SCNN1B P51168 VAR_007129 p.Pro616Ser LP/P - Liddle syndrome 1 (LIDLS1) [MIM:177200] SCNN1B P51168 VAR_014891 p.Gly442Val LB/B rs1799980 - SCNN1B P51168 VAR_014892 p.Thr594Met LB/B rs1799979 - SCNN1B P51168 VAR_015836 p.Ala336Pro LB/B - - SCNN1B P51168 VAR_015837 p.Val434Met LB/B rs201330438 - SCNN1B P51168 VAR_015838 p.Gly589Ser LB/B rs61759926 - SCNN1B P51168 VAR_015839 p.Arg597His LB/B rs140945152 - SCNN1B P51168 VAR_015840 p.Arg624Cys LB/B rs372132399 - SCNN1B P51168 VAR_015841 p.Glu632Gly LB/B - - SCNN1B P51168 VAR_026519 p.Arg563Gln LB/B rs149868979 - SCNN1B P51168 VAR_026520 p.Pro617Ser LP/P rs137852708 Liddle syndrome 1 (LIDLS1) [MIM:177200] SCNN1B P51168 VAR_026521 p.Pro618Arg LP/P rs137852705 Liddle syndrome 1 (LIDLS1) [MIM:177200] SCNN1B P51168 VAR_026522 p.Tyr620His LP/P rs137852707 Liddle syndrome 1 (LIDLS1) [MIM:177200] SCNN1B P51168 VAR_036480 p.Ala311Val US rs777888930 A colorectal cancer sample SCNN1B P51168 VAR_036481 p.Ala314Val US - A breast cancer sample SCNN1B P51168 VAR_036482 p.Leu387Val US - A breast cancer sample SCNN1B P51168 VAR_062401 p.Ser82Cys LP/P rs35731153 Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400] SCNN1B P51168 VAR_062402 p.Pro267Leu LP/P rs137852709 Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400] SCNN1B P51168 VAR_062403 p.Asn288Ser LP/P rs137852712 Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400] SCNN1B P51168 VAR_062404 p.Gly294Ser LP/P rs72654338 Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400] SCNN1B P51168 VAR_062405 p.Val348Met LP/P rs61759921 Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400] SCNN1B P51168 VAR_062406 p.Pro369Thr LP/P rs137852711 Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400] SCNN1B P51168 VAR_062407 p.Glu539Lys LP/P rs137852710 Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400] SCNN1D P51172 VAR_028209 p.Arg344Pro LB/B rs11260579 - SCNN1D P51172 VAR_028210 p.Glu544Gln LB/B rs2228579 - SCNN1D P51172 VAR_028211 p.Ala636Thr LB/B rs13306651 - SCNN1D P51172 VAR_028212 p.Cys696Tyr LB/B rs1053844 - SCNN1D P51172 VAR_028213 p.Gly726Ser LB/B rs6690013 - SCNN1D P51172 VAR_028214 p.Gly770Arg LB/B rs609805 - SCNN1G P51170 VAR_014893 p.Gly49Cys LB/B rs5733 - SCNN1G P51170 VAR_014894 p.Gly183Ser LB/B rs5736 - SCNN1G P51170 VAR_015842 p.Arg178Trp LB/B - - SCNN1G P51170 VAR_015843 p.Ala502Pro LB/B - - SCNN1G P51170 VAR_015844 p.Ala614Ser LB/B - - SCNN1G P51170 VAR_034485 p.Glu197Lys LB/B rs5738 - SCNN1G P51170 VAR_036483 p.Gly58Arg US rs1183385193 A colorectal cancer sample SCO1 O75880 VAR_012109 p.Pro174Leu LP/P rs104894630 Mitochondrial complex IV deficiency, nuclear type 4 (MC4DN4) [MIM:619048] SCO1 O75880 VAR_014537 p.Pro58Ser LB/B rs1802083 - SCO2 O43819 VAR_008874 p.Glu140Lys LP/P rs74315511 Mitochondrial complex IV deficiency, nuclear type 2 (MC4DN2) [MIM:604377] SCO2 O43819 VAR_008874 p.Glu140Lys LP/P rs74315511 Myopia 6 (MYP6) [MIM:608908] SCO2 O43819 VAR_008875 p.Ser225Phe LP/P rs80358232 Mitochondrial complex IV deficiency, nuclear type 2 (MC4DN2) [MIM:604377] SCO2 O43819 VAR_011738 p.Arg20Pro LB/B rs140523 - SCO2 O43819 VAR_013238 p.Arg171Trp LP/P rs28937598 Mitochondrial complex IV deficiency, nuclear type 2 (MC4DN2) [MIM:604377] SCO2 O43819 VAR_051912 p.Ala259Val LP/P rs8139305 Myopia 6 (MYP6) [MIM:608908] SCO2 O43819 VAR_070053 p.Arg114His LP/P rs145100473 Myopia 6 (MYP6) [MIM:608908] SCO2 O43819 VAR_070054 p.Cys133Tyr LP/P rs28937868 Mitochondrial complex IV deficiency, nuclear type 2 (MC4DN2) [MIM:604377] SCO2 O43819 VAR_074010 p.Arg112Trp US rs370130010 Myopia 6 (MYP6) [MIM:608908] SCO2 O43819 VAR_074011 p.Arg120Trp US rs375954523 Myopia 6 (MYP6) [MIM:608908] SCO2 O43819 VAR_076281 p.Gly193Ser LP/P rs759452074 Mitochondrial complex IV deficiency, nuclear type 2 (MC4DN2) [MIM:604377] SCO2 O43819 VAR_076282 p.Met258Thr LP/P rs1352878283 Mitochondrial complex IV deficiency, nuclear type 2 (MC4DN2) [MIM:604377] SCP2 P22307 VAR_035706 p.Ala155Asp US - A breast cancer sample SCP2D1 Q9UJQ7 VAR_024332 p.Pro99Ser LB/B rs1053839 - SCPEP1 Q9HB40 VAR_048684 p.Leu3Val LB/B rs34108204 - SCPEP1 Q9HB40 VAR_048685 p.Val241Ile LB/B rs16957938 - SCRG1 O75711 VAR_020329 p.Pro42Leu LB/B rs2306465 - SCRIB Q14160 VAR_019429 p.Pro422Leu LB/B rs6558394 - SCRIB Q14160 VAR_067219 p.Pro454Ser LP/P rs1302482009 Neural tube defects (NTD) [MIM:182940] SCRIB Q14160 VAR_067220 p.Arg1535Gln LP/P rs782428100 Neural tube defects (NTD) [MIM:182940] SCRN1 Q12765 VAR_029512 p.Gln338Arg LB/B rs17324153 - SCRN1 Q12765 VAR_057709 p.Ser189Asn LB/B rs35960711 - SCRN2 Q96FV2 VAR_029509 p.Lys103Arg LB/B rs17856536 - SCRN2 Q96FV2 VAR_029510 p.Met323Val LB/B rs7350974 - SCRN2 Q96FV2 VAR_029511 p.Ser411Gly LB/B rs17856535 - SCRN2 Q96FV2 VAR_035263 p.Glu273Gln LB/B rs35901087 - SCRN2 Q96FV2 VAR_035264 p.Gln330Arg LB/B rs34480825 - SCRN3 Q0VDG4 VAR_034487 p.Val179Ala LB/B rs6716400 - SCRN3 Q0VDG4 VAR_053611 p.Asp18Asn LB/B rs10497410 - SCRN3 Q0VDG4 VAR_069467 p.Leu108Ser LB/B - - SCRT1 Q9BWW7 VAR_045990 p.Ala133Ser LB/B rs7013127 - SCTR P47872 VAR_033970 p.Ala122Pro LB/B rs3731600 - SCTR P47872 VAR_049456 p.Asp110Asn LB/B rs6726491 - SCUBE1 Q8IWY4 VAR_028850 p.Gly398Arg LB/B rs129415 - SCUBE1 Q8IWY4 VAR_028851 p.Ser648Pro LB/B rs138993 - SCUBE2 Q9NQ36 VAR_028870 p.Thr591Met LB/B rs3751055 - SCUBE2 Q9NQ36 VAR_028871 p.Gln712His LB/B rs7395988 - SCUBE2 Q9NQ36 VAR_028872 p.Val752Gly LB/B rs12419343 - SCUBE2 Q9NQ36 VAR_028873 p.Thr791Ser LB/B rs3751057 - SCUBE2 Q9NQ36 VAR_028874 p.Pro843Arg LB/B rs3751059 - SCUBE3 Q8IX30 VAR_048994 p.Ser410Leu LB/B rs3800381 - SCUBE3 Q8IX30 VAR_085320 p.Cys97Trp LP/P rs1783419625 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 (SSFSC2) [MIM:619184] SCUBE3 Q8IX30 VAR_085321 p.Gly204Asp US rs1783620400 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 (SSFSC2) [MIM:619184] SCUBE3 Q8IX30 VAR_085323 p.Ile815Thr LP/P rs751478115 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 (SSFSC2) [MIM:619184] SCYL1 Q96KG9 VAR_041364 p.Pro479Leu LB/B rs55977709 - SCYL1 Q96KG9 VAR_041365 p.His495Tyr US - A metastatic melanoma sample SCYL1 Q96KG9 VAR_041366 p.Gln663His LB/B rs56076708 - SCYL1 Q96KG9 VAR_041367 p.Trp755Ser LB/B rs56077405 - SCYL2 Q6P3W7 VAR_041368 p.Pro357Leu LB/B rs33968174 - SCYL2 Q6P3W7 VAR_041369 p.Thr720Ser LB/B rs763873645 - SCYL2 Q6P3W7 VAR_041370 p.Gln863His US - A lung adenocarcinoma sample SCYL3 Q8IZE3 VAR_051690 p.Gly597Ala LB/B rs12143301 - SCYL3 Q8IZE3 VAR_051691 p.Gln621Arg LB/B rs4656197 - SDAD1 Q9NVU7 VAR_032312 p.Lys258Gln LB/B rs15481 - SDAD1 Q9NVU7 VAR_032313 p.Ala490Asp LB/B rs34627298 - SDAD1 Q9NVU7 VAR_032314 p.Ser575Cys LB/B rs2242471 - SDAD1 Q9NVU7 VAR_032315 p.Val660Ile LB/B rs17001276 - SDC1 P18827 VAR_052242 p.Thr76Met LB/B rs2230922 - SDC1 P18827 VAR_052243 p.Leu136Gln LB/B rs10205485 - SDC2 P34741 VAR_034675 p.Ala59Thr LB/B rs3816208 - SDC2 P34741 VAR_034676 p.Ser71Thr LB/B rs1042381 - SDC3 O75056 VAR_027251 p.Val208Ile LB/B rs2491132 - SDC3 O75056 VAR_027252 p.Asp303Asn LB/B rs4949184 - SDC3 O75056 VAR_027253 p.Thr329Ile LB/B rs2282440 - SDC4 P31431 VAR_021851 p.Phe12Leu LB/B rs2228384 - SDCBP O00560 VAR_013160 p.Asn69Ser LB/B rs1127509 - SDCBP2 Q9H190 VAR_036544 p.Arg191Gln US rs35367003 A colorectal cancer sample SDCBP2 Q9H190 VAR_053700 p.Val182Met LB/B rs2273959 - SDCBP2 Q9H190 VAR_053701 p.Arg223Cys LB/B rs1048621 - SDCBP2 Q9H190 VAR_053702 p.Gly242Arg LB/B rs4814111 - SDCCAG8 Q86SQ7 VAR_051333 p.Glu378Asp LB/B rs2275155 - SDE2 Q6IQ49 VAR_032068 p.Met312Ile LB/B rs34348128 - SDF2 Q99470 VAR_051913 p.Ala15Thr LB/B rs35404078 - SDF4 Q9BRK5 VAR_035461 p.Ala148Thr US rs766752243 A colorectal cancer sample SDF4 Q9BRK5 VAR_048659 p.Asn50Asp LB/B rs12745364 - SDHA P31040 VAR_002449 p.Arg554Trp LP/P rs9809219 Leigh syndrome (LS) [MIM:256000] SDHA P31040 VAR_016878 p.Ala524Val LP/P rs137852767 Leigh syndrome (LS) [MIM:256000] SDHA P31040 VAR_016879 p.Gly555Glu LP/P rs137852768 Cardiomyopathy, dilated, 1GG (CMD1GG) [MIM:613642] SDHA P31040 VAR_016879 p.Gly555Glu LP/P rs137852768 Mitochondrial complex II deficiency, nuclear type 1 (MC2DN1) [MIM:252011] SDHA P31040 VAR_049214 p.Phe33Val LB/B rs1061518 - SDHA P31040 VAR_049215 p.Asp38Val LB/B rs34635677 - SDHA P31040 VAR_049216 p.Glu240Gln LB/B rs1041946 - SDHA P31040 VAR_049217 p.Val657Ile LB/B rs6962 - SDHA P31040 VAR_059307 p.Val333Ile LB/B rs1062468 - SDHA P31040 VAR_065975 p.Arg589Trp LP/P rs387906780 Pheochromocytoma/paraganglioma syndrome 5 (PPGL5) [MIM:614165] SDHA P31040 VAR_071037 p.Tyr629Phe LB/B rs6960 - SDHA P31040 VAR_074022 p.Cys189Gly LP/P - Leigh syndrome (LS) [MIM:256000] SDHA P31040 VAR_085396 p.Thr508Ile LB/B rs151266052 - SDHA P31040 VAR_085397 p.Ser509Leu US rs397514541 Mitochondrial complex II deficiency, nuclear type 1 (MC2DN1) [MIM:252011] SDHA P31040 VAR_085584 p.Arg451Cys LP/P rs1553999752 Neurodegeneration with ataxia and late-onset optic atrophy (NDAXOA) [MIM:619259] SDHAF1 A6NFY7 VAR_058097 p.Arg55Pro LP/P rs137853193 Mitochondrial complex II deficiency, nuclear type 2 (MC2DN2) [MIM:619166] SDHAF1 A6NFY7 VAR_058098 p.Gly57Arg LP/P rs137853192 Mitochondrial complex II deficiency, nuclear type 2 (MC2DN2) [MIM:619166] SDHAF1 A6NFY7 VAR_085406 p.Gly57Glu LP/P rs1976655209 Mitochondrial complex II deficiency, nuclear type 2 (MC2DN2) [MIM:619166] SDHAF2 Q9NX18 VAR_058705 p.Gly78Arg LP/P rs113560320 Pheochromocytoma/paraganglioma syndrome 2 (PPGL2) [MIM:601650] SDHAF4 Q5VUM1 VAR_026890 p.Gln46Arg LB/B rs1048886 - SDHAF4 Q5VUM1 VAR_053598 p.Arg57Cys LB/B rs34711085 - SDHB P21912 VAR_017868 p.Pro197Arg LP/P rs74315367 Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_017869 p.Arg242His LP/P rs74315368 Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_018517 p.Leu87Ser LP/P rs727504457 Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_018518 p.Pro131Arg LP/P - Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_035064 p.Arg46Gly LP/P rs74315370 Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_035065 p.Cys101Tyr LP/P rs74315371 Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_035066 p.Cys192Arg LP/P rs786202732 Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_035067 p.Cys196Tyr LP/P rs876658367 Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_037620 p.Ser100Phe LP/P rs121917755 Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_037621 p.His132Pro LP/P rs74315372 Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_054374 p.Ala3Gly US rs11203289 - SDHB P21912 VAR_054375 p.Lys40Glu LB/B - - SDHB P21912 VAR_054376 p.Ala43Pro LP/P - Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_054377 p.Arg46Gln LP/P rs772551056 Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_054378 p.Gly53Arg LP/P rs1570958009 Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_054379 p.Leu65His LP/P rs876659329 Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_054380 p.Leu65Pro LP/P rs876659329 Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_054381 p.Ile127Asn LP/P - Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_054382 p.Ser163Pro US rs33927012 - SDHB P21912 VAR_054383 p.Arg230Cys LP/P rs138996609 Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] SDHB P21912 VAR_085398 p.Asp48Val LP/P rs202101384 Mitochondrial complex II deficiency, nuclear type 4 (MC2DN4) [MIM:619224] SDHB P21912 VAR_085399 p.Ala102Thr US rs777578399 Mitochondrial complex II deficiency, nuclear type 4 (MC2DN4) [MIM:619224] SDHB P21912 VAR_085400 p.Met103Thr LP/P rs1553177765 Mitochondrial complex II deficiency, nuclear type 4 (MC2DN4) [MIM:619224] SDHB P21912 VAR_085401 p.Arg230His LP/P rs587782604 Mitochondrial complex II deficiency, nuclear type 4 (MC2DN4) [MIM:619224] SDHB P21912 VAR_085402 p.Leu257Val LP/P rs761350633 Mitochondrial complex II deficiency, nuclear type 4 (MC2DN4) [MIM:619224] SDHD O14521 VAR_010038 p.Pro81Leu LP/P rs80338844 Pheochromocytoma/paraganglioma syndrome 1 (PPGL1) [MIM:168000] SDHD O14521 VAR_010039 p.Asp92Tyr LP/P rs80338845 Pheochromocytoma/paraganglioma syndrome 1 (PPGL1) [MIM:168000] SDHD O14521 VAR_010040 p.His102Leu LP/P rs104894302 Pheochromocytoma/paraganglioma syndrome 1 (PPGL1) [MIM:168000] SDHD O14521 VAR_017870 p.Gly12Ser LB/B rs34677591 - SDHD O14521 VAR_017871 p.His50Arg LB/B rs11214077 - SDHD O14521 VAR_017872 p.Tyr114Cys LP/P rs104894304 Pheochromocytoma/paraganglioma syndrome 1 (PPGL1) [MIM:168000] SDHD O14521 VAR_017873 p.Leu139Pro LP/P rs80338847 Pheochromocytoma/paraganglioma syndrome 1 (PPGL1) [MIM:168000] SDHD O14521 VAR_054384 p.His145Asn US rs121908984 - SDHD O14521 VAR_054385 p.Gly148Val LP/P rs1555187633 Pheochromocytoma/paraganglioma syndrome 1 (PPGL1) [MIM:168000] SDHD O14521 VAR_074105 p.Glu69Lys LP/P rs202198133 Mitochondrial complex II deficiency, nuclear type 3 (MC2DN3) [MIM:619167] SDHD O14521 VAR_074106 p.Asp92Gly LP/P rs786205436 Mitochondrial complex II deficiency, nuclear type 3 (MC2DN3) [MIM:619167] SDK1 Q7Z5N4 VAR_025529 p.Asp1016Asn LB/B rs11978101 - SDK1 Q7Z5N4 VAR_025530 p.His1641Arg LB/B rs671694 - SDK2 Q58EX2 VAR_080771 p.Gly376Ser US rs372925045 - SDR16C5 Q8N3Y7 VAR_035234 p.Arg62Trp LB/B rs4151643 - SDR39U1 Q9NRG7 VAR_057465 p.Gly181Val LB/B rs11538256 - SDR39U1 Q9NRG7 VAR_057466 p.Leu232Phe LB/B rs3211056 - SDR39U1 Q9NRG7 VAR_060623 p.Ile79Leu LB/B rs11625819 - SDR39U1 Q9NRG7 VAR_060624 p.Gln270Arg LB/B rs1043831 - SDR42E1 Q8WUS8 VAR_055344 p.Ser10Thr LB/B rs6564956 - SDR42E1 Q8WUS8 VAR_055345 p.Lys96Glu LB/B rs16956174 - SDR42E1 Q8WUS8 VAR_055346 p.Gly320Asp LB/B rs3813012 - SDR9C7 Q8NEX9 VAR_079292 p.Arg72Trp LP/P rs530109812 Ichthyosis, congenital, autosomal recessive 13 (ARCI13) [MIM:617574] SDR9C7 Q8NEX9 VAR_079293 p.Ile200Thr LP/P rs770729222 Ichthyosis, congenital, autosomal recessive 13 (ARCI13) [MIM:617574] SEBOX Q9HB31 VAR_037228 p.Leu181Ser LB/B rs9910163 - SEC13 P55735 VAR_053413 p.Ser172Leu LB/B rs34078590 - SEC14L1 Q92503 VAR_057173 p.Val37Met LB/B rs1049416 - SEC14L1 Q92503 VAR_060480 p.Ala97Gly LB/B rs1049422 - SEC14L1 Q92503 VAR_060481 p.Tyr98His LB/B rs1049423 - SEC14L1 Q92503 VAR_060482 p.Thr188Pro LB/B rs673918 - SEC14L2 O76054 VAR_024626 p.Arg11Lys LB/B rs757660 - SEC14L3 Q9UDX4 VAR_022097 p.Asp335Glu LB/B rs2240345 - SEC14L3 Q9UDX4 VAR_024627 p.Ile103Thr LB/B rs4820853 - SEC14L3 Q9UDX4 VAR_024628 p.Arg214His LB/B rs2269961 - SEC14L3 Q9UDX4 VAR_061787 p.Arg364Cys LB/B rs35764129 - SEC14L4 Q9UDX3 VAR_024629 p.Ser3Gly LB/B rs9608956 - SEC14L4 Q9UDX3 VAR_051914 p.Arg124Gly LB/B rs9606739 - SEC14L4 Q9UDX3 VAR_051915 p.Val200Met LB/B rs17738540 - SEC14L4 Q9UDX3 VAR_051916 p.Glu211Lys LB/B rs17738527 - SEC16A O15027 VAR_023332 p.Arg1039Cys LB/B rs3812594 - SEC16B Q96JE7 VAR_044130 p.His292Arg LB/B rs12040910 - SEC16B Q96JE7 VAR_044131 p.Gly730Arg LB/B rs943762 - SEC16B Q96JE7 VAR_044132 p.Gln845His LB/B rs7522194 - SEC16B Q96JE7 VAR_044133 p.Pro864Ala LB/B rs591120 - SEC16B Q96JE7 VAR_044134 p.Ser873Asn LB/B rs3813649 - SEC23A Q15436 VAR_031029 p.Leu211Val LB/B rs8018720 - SEC23A Q15436 VAR_031030 p.Phe382Leu LP/P rs118204000 Craniolenticulosutural dysplasia (CLSD) [MIM:607812] SEC23B Q15437 VAR_020318 p.His489Gln LB/B rs2273526 - SEC23B Q15437 VAR_034482 p.Pro433Leu LB/B rs17807673 - SEC23B Q15437 VAR_062294 p.Arg14Trp LP/P rs121918222 Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100] SEC23B Q15437 VAR_062295 p.Arg18His LB/B rs905074313 - SEC23B Q15437 VAR_062296 p.Glu109Lys LP/P rs121918221 Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100] SEC23B Q15437 VAR_062297 p.Asp239Gly US rs761034212 Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100] SEC23B Q15437 VAR_062298 p.Arg313His LB/B rs750888081 - SEC23B Q15437 VAR_062299 p.Ile318Thr LB/B rs953079477 - SEC23B Q15437 VAR_062300 p.Asp348Ala LP/P - Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100] SEC23B Q15437 VAR_062301 p.Met373Val LB/B rs17849992 - SEC23B Q15437 VAR_062302 p.Gln386Arg LB/B - - SEC23B Q15437 VAR_062303 p.Val426Ile LB/B rs41309927 - SEC23B Q15437 VAR_062304 p.Tyr462Cys LB/B rs780978419 - SEC23B Q15437 VAR_062305 p.Arg497Cys US rs727504145 Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100] SEC23B Q15437 VAR_062306 p.Ala524Val LB/B rs398124225 - SEC23B Q15437 VAR_062307 p.Arg530Trp LP/P rs121918223 Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100] SEC23B Q15437 VAR_062308 p.Ser603Leu LP/P - Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100] SEC23B Q15437 VAR_062309 p.Arg701Cys LP/P rs201270568 Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100] SEC23B Q15437 VAR_076424 p.Val164Leu US rs36023150 Cowden syndrome 7 (CWS7) [MIM:616858] SEC23B Q15437 VAR_076425 p.Val594Gly LP/P rs752366963 Cowden syndrome 7 (CWS7) [MIM:616858] SEC23B Q15437 VAR_086961 p.Ser436Leu US - Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100] SEC23IP Q9Y6Y8 VAR_019806 p.Lys644Glu LB/B rs2475298 - SEC24A O95486 VAR_037253 p.Ser261Gly LB/B rs7718102 - SEC24A O95486 VAR_037254 p.Thr302Ile LB/B rs17851746 - SEC24A O95486 VAR_037255 p.Thr396Met LB/B rs17851745 - SEC24B O95487 VAR_047934 p.Ala456Gly LB/B rs35705351 - SEC24C P53992 VAR_057174 p.Leu934Pro LB/B rs16930872 - SEC24C P53992 VAR_058690 p.Pro109Ser LB/B rs17851695 - SEC24D O94855 VAR_047472 p.Met42Thr LB/B rs10029206 - SEC24D O94855 VAR_047473 p.Pro193Leu LB/B rs6844109 - SEC24D O94855 VAR_047474 p.Phe496Ile LB/B rs11723368 - SEC24D O94855 VAR_073658 p.Gln978Pro LP/P rs786204846 Cole-Carpenter syndrome 2 (CLCRP2) [MIM:616294] SEC24D O94855 VAR_073659 p.Ser1015Phe LP/P rs760670617 Cole-Carpenter syndrome 2 (CLCRP2) [MIM:616294] SEC31A O94979 VAR_033225 p.Ile263Val LB/B rs34554214 - SEC31A O94979 VAR_033226 p.Pro841Leu LB/B rs35579207 - SEC31A O94979 VAR_033227 p.Pro1055Thr LB/B rs35739017 - SEC31A O94979 VAR_053414 p.Asn456Lys LB/B rs3797036 - SEC31B Q9NQW1 VAR_033228 p.Val89Ala LB/B rs3763695 - SEC31B Q9NQW1 VAR_033229 p.Tyr100Cys LB/B rs7074707 - SEC31B Q9NQW1 VAR_033230 p.Leu129Phe LB/B rs3793706 - SEC31B Q9NQW1 VAR_033231 p.Ser332Ala LB/B rs2295774 - SEC31B Q9NQW1 VAR_033232 p.Pro372Ser LB/B rs2295772 - SEC31B Q9NQW1 VAR_033233 p.Ser527Arg LB/B rs17113157 - SEC31B Q9NQW1 VAR_033234 p.Ala1169Ser LB/B rs2298075 - SEC31B Q9NQW1 VAR_053415 p.Arg433Gln LB/B rs2295771 - SEC31B Q9NQW1 VAR_053416 p.Arg478Thr LB/B rs11819496 - SEC61A1 P61619 VAR_077059 p.Val67Gly LP/P rs752745051 Tubulointerstitial kidney disease, autosomal dominant, 5 (ADTKD5) [MIM:617056] SEC61A1 P61619 VAR_077060 p.Thr185Ala LP/P rs879255648 Tubulointerstitial kidney disease, autosomal dominant, 5 (ADTKD5) [MIM:617056] SEC61A1 P61619 VAR_080231 p.Val85Asp LB/B rs1553721236 - SEC63 Q9UGP8 VAR_061146 p.Val556Ile LB/B rs17854547 - SECISBP2 Q96T21 VAR_025282 p.Arg540Gln LP/P rs119461976 Thyroid hormone metabolism, abnormal, 1 (THMA1) [MIM:609698] SECISBP2 Q96T21 VAR_061704 p.Gln428Glu LB/B rs45452691 - SEH1L Q96EE3 VAR_053417 p.Thr342Asn LB/B rs6505776 - SEL1L Q9UBV2 VAR_029303 p.Asp162Gly LB/B rs11499034 - SEL1L Q9UBV2 VAR_053963 p.Val714Ile LB/B rs1051193 - SEL1L2 Q5TEA6 VAR_035172 p.His687Gln LB/B rs2073290 - SEL1L2 Q5TEA6 VAR_053964 p.Gly477Ser LB/B rs11697581 - SEL1L3 Q68CR1 VAR_039369 p.Ile401Val LB/B rs16877591 - SEL1L3 Q68CR1 VAR_053965 p.Gln107Arg LB/B rs16877661 - SEL1L3 Q68CR1 VAR_053966 p.Ile554Val LB/B rs16877591 - SEL1L3 Q68CR1 VAR_053967 p.Trp1054Cys LB/B rs2286866 - SEL1L3 Q68CR1 VAR_053968 p.Pro1122Ser LB/B rs7671168 - SELE P16581 VAR_004191 p.Ser149Arg LB/B rs5361 - SELE P16581 VAR_011790 p.Cys130Trp LB/B rs5360 - SELE P16581 VAR_011791 p.Glu295Lys LB/B rs5364 - SELE P16581 VAR_011792 p.Glu421Gln LB/B rs5366 - SELE P16581 VAR_011793 p.His468Tyr LB/B rs5368 - SELE P16581 VAR_011794 p.Leu575Phe LB/B rs5355 - SELE P16581 VAR_014300 p.Ala21Ser LB/B rs3917407 - SELE P16581 VAR_014301 p.Met31Ile LB/B rs3917408 - SELE P16581 VAR_014302 p.Gln257Pro LB/B rs3917422 - SELE P16581 VAR_014303 p.Pro550Ser LB/B rs3917429 - SELE P16581 VAR_074189 p.Pro545Leu LB/B - - SELENBP1 Q13228 VAR_080207 p.Gly225Trp LP/P rs758495626 Extraoral halitosis due to methanethiol oxidase deficiency (EHMTO) [MIM:618148] SELENBP1 Q13228 VAR_080208 p.His329Tyr LP/P rs1553204840 Extraoral halitosis due to methanethiol oxidase deficiency (EHMTO) [MIM:618148] SELENOI Q9C0D9 VAR_083878 p.Arg112Pro LP/P rs933233143 Spastic paraplegia 81, autosomal recessive (SPG81) [MIM:618768] SELENOK Q9Y6D0 VAR_053921 p.Arg50Ser LB/B rs11562 - SELENON Q9NZV5 VAR_019635 p.Gly273Glu LP/P rs121908182 Congenital myopathy 3 with rigid spine (CMYP3) [MIM:602771] SELENON Q9NZV5 VAR_019636 p.His293Arg LP/P rs776738184 Congenital myopathy 3 with rigid spine (CMYP3) [MIM:602771] SELENON Q9NZV5 VAR_019637 p.Gly315Ser LP/P rs121908188 Congenital myopathy 3 with rigid spine (CMYP3) [MIM:602771] SELENON Q9NZV5 VAR_019638 p.Asn340Ile LP/P rs749911126 Congenital myopathy 3 with rigid spine (CMYP3) [MIM:602771] SELENON Q9NZV5 VAR_019639 p.Trp453Ser LP/P rs121908186 Congenital myopathy 3 with rigid spine (CMYP3) [MIM:602771] SELENON Q9NZV5 VAR_019640 p.Sec462Gly LP/P rs121908187 Congenital myopathy 3 with rigid spine (CMYP3) [MIM:602771] SELENON Q9NZV5 VAR_019641 p.Arg466Gln LP/P rs121908185 Congenital myopathy 3 with rigid spine (CMYP3) [MIM:602771] SELENON Q9NZV5 VAR_038845 p.Thr137Ala LB/B rs35019869 - SELENON Q9NZV5 VAR_038846 p.Cys142Tyr LB/B rs7349185 - SELENON Q9NZV5 VAR_038847 p.Asn502Lys LB/B rs2294228 - SELENON Q9NZV5 VAR_058462 p.Gly463Val LP/P - Congenital myopathy 3 with rigid spine (CMYP3) [MIM:602771] SELENON Q9NZV5 VAR_058463 p.Arg469Gln LP/P rs779162837 Congenital myopathy 3 with rigid spine (CMYP3) [MIM:602771] SELENON Q9NZV5 VAR_058464 p.Arg469Trp LP/P rs756927098 Congenital myopathy 3 with rigid spine (CMYP3) [MIM:602771] SELENOO Q9BVL4 VAR_059952 p.Val3Ala LB/B rs5771225 - SELENOO Q9BVL4 VAR_059953 p.Thr167Asn LB/B rs2272846 - SELENOO Q9BVL4 VAR_059954 p.Glu630Lys LB/B rs2272852 - SELENOO Q9BVL4 VAR_059955 p.Glu638Lys LB/B rs17013238 - SELENOP P49908 VAR_023256 p.Pro112Ser LB/B rs28919895 - SELENOP P49908 VAR_023257 p.Ala234Thr LB/B rs3877899 - SELENOP P49908 VAR_023258 p.Arg278Gln LB/B rs28919923 - SELENOP P49908 VAR_023259 p.Ser314Pro LB/B rs28919925 - SELENOP P49908 VAR_023260 p.Arg368Cys LB/B rs28919926 - SELENOV P59797 VAR_061790 p.Lys284Arg LB/B rs56149652 - SELL P14151 VAR_019134 p.Phe193Leu LB/B rs1131498 - SELL P14151 VAR_019135 p.Glu201Gln LB/B rs2229568 - SELL P14151 VAR_019136 p.Pro213Ser LB/B rs2229569 - SELL P14151 VAR_019137 p.Asn369Asp LB/B rs4987382 - SELP P16109 VAR_004192 p.Ser331Asn LB/B rs6131 - SELP P16109 VAR_004193 p.Asp603Asn LB/B rs6127 - SELP P16109 VAR_004194 p.Val640Leu LB/B rs6133 - SELP P16109 VAR_004195 p.Thr756Pro LB/B rs6136 - SELP P16109 VAR_013910 p.Val209Met LB/B rs6125 - SELP P16109 VAR_013911 p.Pro301Leu LB/B rs6124 - SELP P16109 VAR_013912 p.Met365Val LB/B rs6134 - SELP P16109 VAR_013913 p.Ser500Phe LB/B rs6130 - SELP P16109 VAR_019381 p.Gly179Arg LB/B rs3917718 - SELP P16109 VAR_019382 p.Cys230Phe LB/B rs3917869 - SELP P16109 VAR_019383 p.Thr274Ile LB/B rs3917724 - SELP P16109 VAR_019384 p.Ser385Leu LB/B rs3917742 - SELP P16109 VAR_019385 p.Glu542Lys LB/B rs3917769 - SELP P16109 VAR_019386 p.Ser619Ala LB/B rs2228672 - SELP P16109 VAR_019387 p.Gly631Val LB/B rs3917812 - SELP P16109 VAR_019388 p.Thr661Asn LB/B rs3917814 - SELP P16109 VAR_019389 p.Asn673Ser LB/B rs3917815 - SELPLG Q14242 VAR_019156 p.Met62Ile LB/B rs2228315 - SELPLG Q14242 VAR_019157 p.Pro246Ser LB/B rs8179142 - SELPLG Q14242 VAR_076761 p.Thr249Met LB/B rs756234416 - SEM1 P60896 VAR_012003 p.Asp17Gly LB/B rs1802882 - SEMA3A Q14563 VAR_036283 p.Ala131Thr US rs143007146 A breast cancer sample SEMA3A Q14563 VAR_064749 p.Pro396Ser LB/B rs866354226 - SEMA3A Q14563 VAR_069200 p.Arg66Trp LP/P rs199979628 Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897] SEMA3A Q14563 VAR_069201 p.Asn153Ser LP/P rs139295139 Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897] SEMA3A Q14563 VAR_069202 p.Ile400Val LP/P rs36026860 Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897] SEMA3A Q14563 VAR_069203 p.Val435Ile LP/P rs147436181 Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897] SEMA3A Q14563 VAR_069204 p.Thr688Ala LP/P rs318240751 Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897] SEMA3A Q14563 VAR_069205 p.Arg730Gln LP/P rs318240752 Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897] SEMA3A Q14563 VAR_069206 p.Arg733His LP/P rs318240753 Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897] SEMA3A Q14563 VAR_072986 p.Leu82Arg US - Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897] SEMA3A Q14563 VAR_072987 p.Met342Thr LP/P - Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897] SEMA3A Q14563 VAR_072988 p.Asp447Gly LP/P rs761486957 Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897] SEMA3A Q14563 VAR_072989 p.Arg484Trp US rs137871935 Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897] SEMA3A Q14563 VAR_072990 p.Ile657Met LP/P rs748219597 Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897] SEMA3B Q13214 VAR_014221 p.Arg348Cys US - A non-small cell lung cancer cell line SEMA3B Q13214 VAR_014222 p.Asp397His US - A non-small cell lung cancer cell line SEMA3B Q13214 VAR_014223 p.Thr415Ile US rs2071203 A non-small cell lung cancer cell line SEMA3C Q99985 VAR_020346 p.Val337Met LB/B rs1527482 - SEMA3C Q99985 VAR_051928 p.Phe302Ser LB/B rs35070362 - SEMA3D O95025 VAR_021513 p.Lys701Gln LB/B rs7800072 - SEMA3E O15041 VAR_080476 p.Arg208Pro LB/B rs61729612 - SEMA3E O15041 VAR_080477 p.Arg619Cys LB/B rs143631464 - SEMA3E O15041 VAR_080478 p.Ser703Leu US rs121918341 - SEMA3E O15041 VAR_080479 p.Ile717Val LB/B rs61729610 - SEMA3F Q13275 VAR_008855 p.Leu503Met LB/B rs1046956 - SEMA3F Q13275 VAR_011820 p.Ala474Gly LB/B rs1046955 - SEMA3G Q9NS98 VAR_030292 p.Ile232Thr LB/B rs2276833 - SEMA3G Q9NS98 VAR_051929 p.Ser180Asn LB/B rs35811072 - SEMA3G Q9NS98 VAR_051930 p.Val332Ile LB/B rs34540591 - SEMA4A Q9H3S1 VAR_028322 p.Asp345His LP/P rs267607033 Cone-rod dystrophy 10 (CORD10) [MIM:610283] SEMA4A Q9H3S1 VAR_028322 p.Asp345His LP/P rs267607033 Retinitis pigmentosa 35 (RP35) [MIM:610282] SEMA4A Q9H3S1 VAR_028323 p.Phe350Cys LP/P rs267607034 Cone-rod dystrophy 10 (CORD10) [MIM:610283] SEMA4A Q9H3S1 VAR_028323 p.Phe350Cys LP/P rs267607034 Retinitis pigmentosa 35 (RP35) [MIM:610282] SEMA4A Q9H3S1 VAR_028324 p.Arg510Gln LB/B rs2075164 - SEMA4A Q9H3S1 VAR_028325 p.Arg713Gln LB/B rs41265017 - SEMA4B Q9NPR2 VAR_010758 p.Ser797Ala LB/B rs3751655 - SEMA4D Q92854 VAR_030293 p.Ala72Thr LB/B rs13284404 - SEMA4D Q92854 VAR_057175 p.Ala327Thr LB/B rs11526468 - SEMA5A Q13591 VAR_030294 p.Val246Leu LB/B rs1806079 - SEMA5A Q13591 VAR_030295 p.Ser792Leu LB/B rs2290734 - SEMA5B Q9P283 VAR_037196 p.Gly42Ser US rs148102705 A breast cancer sample SEMA5B Q9P283 VAR_037197 p.Ile220Thr LB/B rs2276774 - SEMA5B Q9P283 VAR_037198 p.Ile223Met US - A breast cancer sample SEMA5B Q9P283 VAR_037199 p.Met742Thr LB/B rs2276781 - SEMA5B Q9P283 VAR_037200 p.Val840Asp LB/B rs2276782 - SEMA5B Q9P283 VAR_037201 p.Ser996Pro LB/B rs35306342 - SEMA5B Q9P283 VAR_037202 p.Asp1028Gly LB/B rs2303983 - SEMA6A Q9H2E6 VAR_030296 p.His518Tyr LB/B rs34966 - SEMA6A Q9H2E6 VAR_030297 p.Arg559His LB/B rs17432496 - SEMA6A Q9H2E6 VAR_030298 p.Asp567Glu LB/B rs12516652 - SEMA6C Q9H3T2 VAR_028144 p.Thr455Pro LB/B rs4971007 - SEMA6D Q8NFY4 VAR_051931 p.Asn307Ser LB/B rs3743279 - SEMA6D Q8NFY4 VAR_051932 p.Ser478Asn LB/B rs532598 - SEMA6D Q8NFY4 VAR_051933 p.Ser969Thr LB/B rs16960074 - SEMA7A O75326 VAR_029282 p.Ser115Thr LB/B rs16968733 - SEMA7A O75326 VAR_038836 p.Arg207Gln LB/B rs55637216 - SEMA7A O75326 VAR_038837 p.Arg207Trp LB/B rs56367230 - SEMA7A O75326 VAR_038838 p.Arg460His LB/B rs56204206 - SEMA7A O75326 VAR_038839 p.Arg461Cys LB/B rs56001514 - SEMA7A O75326 VAR_068679 p.Arg347Leu LB/B rs387907241 - SEMA7A O75326 VAR_087326 p.Arg148Trp LP/P - Cholestasis, progressive familial intrahepatic, 11 (PFIC11) [MIM:619874] SEMG1 P04279 VAR_005610 p.Ser79Thr LB/B rs2301366 - SEMG1 P04279 VAR_022679 p.Arg372Leu LB/B rs2233887 - SEMG1 P04279 VAR_053650 p.Glu58Gly LB/B rs11559137 - SEMG1 P04279 VAR_053651 p.His108Arg LB/B rs2233884 - SEMG2 Q02383 VAR_024630 p.Ser274Asn LB/B rs2233901 - SEMG2 Q02383 VAR_024631 p.Gly368Arg LB/B rs2071650 - SEMG2 Q02383 VAR_034489 p.Gln43Lys LB/B rs2233896 - SEMG2 Q02383 VAR_034490 p.Thr57Ala LB/B rs2233897 - SEMG2 Q02383 VAR_034491 p.His279Tyr LB/B rs2233903 - SENP1 Q9P0U3 VAR_029648 p.Ile193Val LB/B rs17854369 - SENP1 Q9P0U3 VAR_029649 p.Asp350Gly LB/B rs17854368 - SENP1 Q9P0U3 VAR_047547 p.Ala280Thr LB/B rs35130318 - SENP2 Q9HC62 VAR_029650 p.Thr301Lys LB/B rs6762208 - SENP3 Q9H4L4 VAR_051544 p.Trp515Arg LB/B rs9972914 - SENP5 Q96HI0 VAR_057045 p.Asn83Ser LB/B rs35434690 - SENP5 Q96HI0 VAR_061732 p.Leu340Phe LB/B rs34251880 - SENP6 Q9GZR1 VAR_016096 p.Tyr1106Cys LB/B rs9250 - SENP6 Q9GZR1 VAR_029653 p.Thr121Met LB/B rs17414086 - SENP6 Q9GZR1 VAR_029654 p.Glu637Lys LB/B rs1061347 - SENP6 Q9GZR1 VAR_029655 p.Arg717Pro LB/B rs12195603 - SENP6 Q9GZR1 VAR_051545 p.Ala820Val LB/B rs34045941 - SENP7 Q9BQF6 VAR_029651 p.Lys79Gln LB/B rs6809436 - SENP7 Q9BQF6 VAR_029652 p.Gln612His LB/B rs2433031 - SENP8 Q96LD8 VAR_023705 p.Thr207Ala LB/B rs930871 - SEPHS2 Q99611 VAR_052345 p.Pro269Ala LB/B rs1804600 - SEPSECS Q9HD40 VAR_065585 p.Ala239Thr LP/P rs267607035 Pontocerebellar hypoplasia 2D (PCH2D) [MIM:613811] SEPSECS Q9HD40 VAR_065586 p.Tyr334Cys LP/P rs267607036 Pontocerebellar hypoplasia 2D (PCH2D) [MIM:613811] SEPSECS Q9HD40 VAR_074163 p.Thr325Ser LP/P rs1461368206 Pontocerebellar hypoplasia 2D (PCH2D) [MIM:613811] SEPTIN1 Q8WYJ6 VAR_051934 p.Gly85Val LB/B rs34518080 - SEPTIN10 Q9P0V9 VAR_051936 p.Leu189Pro LB/B rs3829701 - SEPTIN12 Q8IYM1 VAR_057176 p.Gln213Arg LB/B rs6500633 - SEPTIN12 Q8IYM1 VAR_068097 p.Thr89Met LP/P rs199696526 Spermatogenic failure 10 (SPGF10) [MIM:614822] SEPTIN12 Q8IYM1 VAR_068098 p.Asp197Asn LP/P rs371195126 Spermatogenic failure 10 (SPGF10) [MIM:614822] SEPTIN14 Q6ZU15 VAR_085117 p.Ala123Thr US rs1417582759 - SEPTIN14 Q6ZU15 VAR_085118 p.Ile333Thr US rs185254020 - SEPTIN4 O43236 VAR_051935 p.Glu311Val LB/B rs17741424 - SEPTIN9 Q9UHD8 VAR_020667 p.Arg76Cys LB/B rs202079794 - SEPTIN9 Q9UHD8 VAR_020668 p.Pro145Leu LB/B rs34587622 - SEPTIN9 Q9UHD8 VAR_020669 p.Met576Val LB/B rs2627223 - SEPTIN9 Q9UHD8 VAR_033101 p.Arg106Trp LP/P rs80338761 Hereditary neuralgic amyotrophy (HNA) [MIM:162100] SEPTIN9 Q9UHD8 VAR_033102 p.Ser111Phe LP/P rs80338762 Hereditary neuralgic amyotrophy (HNA) [MIM:162100] SERAC1 Q96JX3 VAR_030342 p.Ser543Thr LB/B rs17849527 - SERAC1 Q96JX3 VAR_068442 p.Gly401Asp LP/P - 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) [MIM:614739] SERAC1 Q96JX3 VAR_068443 p.Gly404Glu LP/P - 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) [MIM:614739] SERAC1 Q96JX3 VAR_068445 p.Ser498Thr LP/P rs201941476 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) [MIM:614739] SERAC1 Q96JX3 VAR_080230 p.Gly526Glu US rs1554261079 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) [MIM:614739] SERF2 P84101 VAR_051937 p.Asp40Tyr LB/B rs11269 - SERGEF Q9UGK8 VAR_017156 p.Lys429Glu LB/B rs1528 - SERGEF Q9UGK8 VAR_017157 p.Gly457Glu LB/B rs10788 - SERHL Q9NQF3 VAR_056985 p.Glu3Lys LB/B rs3213549 - SERHL2 Q9H4I8 VAR_021962 p.Ser46Asn LB/B rs926333 - SERHL2 Q9H4I8 VAR_051334 p.Glu3Lys LB/B rs3213549 - SERHL2 Q9H4I8 VAR_051335 p.Cys306Arg LB/B rs137055 - SERINC1 Q9NRX5 VAR_052275 p.Leu199Val LB/B rs13210569 - SERINC1 Q9NRX5 VAR_052276 p.Phe216Val LB/B rs13210446 - SERINC1 Q9NRX5 VAR_052277 p.Ser225Gly LB/B rs17260829 - SERINC2 Q96SA4 VAR_061838 p.Gly303Ser LB/B rs34728687 - SERINC3 Q13530 VAR_014315 p.Thr437Ala LB/B - - SERPINA1 P01009 VAR_006978 p.Ser4Leu US - - SERPINA1 P01009 VAR_006979 p.Asp26Ala LB/B rs199422212 - SERPINA1 P01009 VAR_006980 p.Ala58Thr LB/B rs149319176 - SERPINA1 P01009 VAR_006981 p.Arg63Cys LB/B rs28931570 - SERPINA1 P01009 VAR_006982 p.Leu65Pro LB/B rs28931569 - SERPINA1 P01009 VAR_006983 p.Ser69Phe LB/B rs199687431 - SERPINA1 P01009 VAR_006985 p.Ser77Phe LB/B rs55819880 - SERPINA1 P01009 VAR_006986 p.Ala84Thr LB/B rs111850950 - SERPINA1 P01009 VAR_006987 p.Gly91Glu LB/B rs28931568 - SERPINA1 P01009 VAR_006988 p.Thr92Ile LB/B rs1490133295 - SERPINA1 P01009 VAR_006989 p.Pro112Thr LB/B rs886044322 - SERPINA1 P01009 VAR_006990 p.Ile116Asn LB/B rs28931572 - SERPINA1 P01009 VAR_006991 p.Arg125His LB/B rs709932 - SERPINA1 P01009 VAR_006992 p.Gly139Ser LB/B rs11558261 - SERPINA1 P01009 VAR_006993 p.Gly172Arg LB/B rs112030253 - SERPINA1 P01009 VAR_006994 p.Gly172Trp LB/B rs112030253 - SERPINA1 P01009 VAR_006995 p.Gln180Glu LB/B rs864622051 - SERPINA1 P01009 VAR_006996 p.Glu228Lys LB/B rs199422208 - SERPINA1 P01009 VAR_006997 p.Val237Ala LB/B rs6647 - SERPINA1 P01009 VAR_006998 p.Arg247Cys LB/B rs28929470 - SERPINA1 P01009 VAR_006999 p.Asp280Val LB/B rs121912714 - SERPINA1 P01009 VAR_007000 p.Glu288Val LB/B rs17580 - SERPINA1 P01009 VAR_007001 p.Ser354Phe LB/B rs201788603 - SERPINA1 P01009 VAR_007002 p.Ala360Thr LB/B rs1802959 - SERPINA1 P01009 VAR_007003 p.Asp365Asn LB/B rs143370956 - SERPINA1 P01009 VAR_007004 p.Glu366Lys LB/B rs28929474 - SERPINA1 P01009 VAR_007005 p.Met382Arg LB/B rs121912713 - SERPINA1 P01009 VAR_007006 p.Pro386His LB/B rs569384943 - SERPINA1 P01009 VAR_007007 p.Pro386Thr LB/B rs12233 - SERPINA1 P01009 VAR_007008 p.Glu387Lys LB/B rs121912712 - SERPINA1 P01009 VAR_007009 p.Pro393Leu LB/B rs199422209 - SERPINA1 P01009 VAR_007010 p.Glu400Asp LB/B rs1303 - SERPINA1 P01009 VAR_007011 p.Pro415His US - - SERPINA1 P01009 VAR_011620 p.Thr109Met LB/B rs199422213 - SERPINA1 P01009 VAR_051938 p.Thr37Ala LB/B rs11558262 - SERPINA10 Q9UK55 VAR_020325 p.Lys46Arg LB/B rs941590 - SERPINA10 Q9UK55 VAR_020326 p.Ser61Gly LB/B rs941591 - SERPINA10 Q9UK55 VAR_020327 p.Thr161Ser LB/B rs2232700 - SERPINA10 Q9UK55 VAR_038833 p.Gly139Arg LB/B rs56137907 - SERPINA10 Q9UK55 VAR_038834 p.Gly271Ser LB/B rs2232708 - SERPINA10 Q9UK55 VAR_038835 p.Gln384Pro LB/B - - SERPINA10 Q9UK55 VAR_051940 p.Leu158Gln LB/B rs2232699 - SERPINA10 Q9UK55 VAR_051941 p.Arg196His LB/B rs2232701 - SERPINA10 Q9UK55 VAR_051942 p.Gln384Arg LB/B rs2232710 - SERPINA10 Q9UK55 VAR_070192 p.Phe420Leu LB/B rs546304706 - SERPINA11 Q86U17 VAR_034511 p.Thr406Ser LB/B rs17752285 - SERPINA11 Q86U17 VAR_061791 p.Glu230Ala LB/B rs1885137 - SERPINA12 Q8IW75 VAR_051943 p.Gln142Lys LB/B rs17090972 - SERPINA12 Q8IW75 VAR_051944 p.Ile394Val LB/B rs34519784 - SERPINA12 Q8IW75 VAR_077875 p.Asp219Gly LB/B rs192558870 - SERPINA2 P20848 VAR_070190 p.Leu330Pro LB/B - - SERPINA2 P20848 VAR_070191 p.Glu342Lys LB/B - - SERPINA3 P01011 VAR_006973 p.Ala9Thr LB/B rs4934 - SERPINA3 P01011 VAR_006974 p.Leu78Pro LB/B rs1800463 - SERPINA3 P01011 VAR_006975 p.Ala167Gly LB/B - - SERPINA3 P01011 VAR_006976 p.Pro252Ala LB/B rs17473 - SERPINA3 P01011 VAR_006977 p.Met401Val LB/B rs755521612 - SERPINA3 P01011 VAR_011742 p.Asp407Gly LB/B rs10956 - SERPINA3 P01011 VAR_037902 p.Lys267Arg LB/B rs17853314 - SERPINA5 P05154 VAR_007100 p.Ala55Val LB/B rs6118 - SERPINA5 P05154 VAR_007101 p.Lys105Glu LB/B rs6119 - SERPINA5 P05154 VAR_013080 p.Ser44Gly LB/B rs2069975 - SERPINA5 P05154 VAR_013081 p.Ser64Asn LB/B rs6115 - SERPINA5 P05154 VAR_013082 p.Gly94Val LB/B rs2069976 - SERPINA5 P05154 VAR_013083 p.Leu115Pro LB/B rs2069999 - SERPINA5 P05154 VAR_013084 p.Gly217Arg LB/B rs6114 - SERPINA5 P05154 VAR_013900 p.Pro121Ala LB/B rs6120 - SERPINA6 P08185 VAR_007111 p.Leu115His LP/P rs113418909 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489] SERPINA6 P08185 VAR_016223 p.Asp389Asn LP/P rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489] SERPINA6 P08185 VAR_024350 p.Ser246Ala LB/B rs2228541 - SERPINA7 P05543 VAR_007102 p.Ser43Thr LB/B rs72554662 - SERPINA7 P05543 VAR_007103 p.Ile116Asn LB/B rs28933689 - SERPINA7 P05543 VAR_007104 p.Ala133Pro LB/B rs28933688 - SERPINA7 P05543 VAR_007105 p.Asp191Asn LB/B rs1050086 - SERPINA7 P05543 VAR_007106 p.Ala211Thr LB/B rs2234036 - SERPINA7 P05543 VAR_007107 p.Leu247Pro LB/B rs28937312 - SERPINA7 P05543 VAR_007108 p.Leu303Phe LB/B rs1804495 - SERPINA7 P05543 VAR_007109 p.His351Tyr LB/B rs72554659 - SERPINA7 P05543 VAR_007110 p.Pro383Leu LB/B rs72554658 - SERPINA9 Q86WD7 VAR_047344 p.Ala24Val LB/B rs4905204 - SERPINA9 Q86WD7 VAR_047345 p.Pro218Leu LB/B rs17090921 - SERPINA9 Q86WD7 VAR_047346 p.His236Gln LB/B rs28583900 - SERPINA9 Q86WD7 VAR_047347 p.Arg292Ile LB/B rs28618118 - SERPINA9 Q86WD7 VAR_047348 p.Val330Ala LB/B rs11628722 - SERPINB1 P30740 VAR_051945 p.Ala82Val LB/B rs34825616 - SERPINB10 P48595 VAR_022116 p.Arg246Cys LB/B rs963075 - SERPINB10 P48595 VAR_024353 p.Ile41Met LB/B rs8097425 - SERPINB10 P48595 VAR_024354 p.Ile99Thr LB/B rs724558 - SERPINB10 P48595 VAR_024355 p.Pro140Ser LB/B rs9967382 - SERPINB10 P48595 VAR_051949 p.Ser3Ala LB/B rs17072097 - SERPINB10 P48595 VAR_051950 p.Gly135Asp LB/B rs17072146 - SERPINB10 P48595 VAR_051951 p.Asp360Asn LB/B rs35453062 - SERPINB11 Q96P15 VAR_012472 p.Thr148Met LB/B rs17071550 - SERPINB11 Q96P15 VAR_012473 p.Ala181Thr LB/B - - SERPINB11 Q96P15 VAR_057177 p.Ile354Thr LB/B rs34811964 - SERPINB11 Q96P15 VAR_060331 p.Glu51Ala LB/B rs1395268 - SERPINB11 Q96P15 VAR_060332 p.Trp188Arg LB/B rs1506419 - SERPINB11 Q96P15 VAR_060333 p.Thr293Ile LB/B rs1395266 - SERPINB11 Q96P15 VAR_060334 p.Ser303Pro LB/B rs1395267 - SERPINB11 Q96P15 VAR_064572 p.Ala181Ile LB/B - - SERPINB12 Q96P63 VAR_034513 p.Lys227Glu LB/B rs35582068 - SERPINB12 Q96P63 VAR_034514 p.Asn289Thr LB/B rs35352345 - SERPINB12 Q96P63 VAR_051952 p.Asn338Ser LB/B rs11664907 - SERPINB13 Q9UIV8 VAR_024356 p.Gly293Ser LB/B rs1020694 - SERPINB2 P05120 VAR_011743 p.Asn120Asp LB/B rs6098 - SERPINB2 P05120 VAR_011744 p.Asn404Lys LB/B rs6103 - SERPINB2 P05120 VAR_011745 p.Ser413Cys LB/B rs6104 - SERPINB2 P05120 VAR_014173 p.Arg229His LB/B rs6100 - SERPINB2 P05120 VAR_051946 p.Gly374Ala LB/B rs34066931 - SERPINB3 P29508 VAR_024351 p.Gly351Ala LB/B rs3180227 - SERPINB3 P29508 VAR_024352 p.Thr357Ala LB/B rs1065205 - SERPINB5 P36952 VAR_022115 p.Ile319Val LB/B rs1455555 - SERPINB5 P36952 VAR_055223 p.Ser176Pro LB/B rs2289519 - SERPINB5 P36952 VAR_055224 p.Val187Leu LB/B rs2289520 - SERPINB6 P35237 VAR_037295 p.Met90Val LB/B rs2295769 - SERPINB6 P35237 VAR_037296 p.Gly153Ser LB/B rs2295766 - SERPINB7 O75635 VAR_034512 p.Arg266Gln LB/B rs17782413 - SERPINB8 P50452 VAR_047110 p.Arg68Gln LB/B rs1944270 - SERPINB8 P50452 VAR_047111 p.Lys158Asn LB/B rs1648493 - SERPINB8 P50452 VAR_051947 p.Thr304Ala LB/B rs3169983 - SERPINB8 P50452 VAR_051948 p.His359Arg LB/B rs3826616 - SERPINC1 P01008 VAR_007032 p.Val30Glu LB/B rs2227624 - SERPINC1 P01008 VAR_007033 p.Ile39Asn LP/P rs121909558 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007034 p.Met52Thr LB/B rs892712171 - SERPINC1 P01008 VAR_007035 p.Arg56Cys LP/P rs28929469 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007036 p.Pro73Leu LP/P rs121909551 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007037 p.Arg79Cys LP/P rs121909547 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007038 p.Arg79His LP/P rs121909552 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007039 p.Arg79Ser LP/P rs121909547 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007041 p.Arg89Cys LP/P rs147266200 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007042 p.Phe90Leu LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007044 p.Pro112Thr LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007045 p.Leu131Phe LP/P rs121909567 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007046 p.Leu131Val LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007047 p.Gln133Lys LP/P rs1411331203 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007049 p.Ser148Pro LP/P rs121909569 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007050 p.Gln150Pro LP/P rs765445413 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007051 p.His152Tyr LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007053 p.Leu158Pro LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007054 p.Arg161Gln LP/P rs121909563 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007055 p.Tyr190Cys US - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007056 p.Tyr198Cys LP/P rs1425532034 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007057 p.Ser214Tyr LP/P rs483352854 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007058 p.Asn219Lys LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007059 p.Asn219Asp LP/P rs121909571 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007060 p.Glu269Lys LP/P rs758087836 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007062 p.Met283Ile LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007063 p.Leu302Pro LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007064 p.Ile316Asn LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007065 p.Glu334Lys LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007067 p.Ser381Pro LP/P rs121909565 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007068 p.Arg391Gln LB/B rs201541724 - SERPINC1 P01008 VAR_007069 p.Ala414Thr LP/P rs121909557 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007070 p.Ala416Pro LP/P rs121909548 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007071 p.Ala416Ser LP/P rs121909548 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007072 p.Ala419Val LP/P rs121909568 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007073 p.Gly424Asp LP/P rs121909566 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007074 p.Arg425His LP/P rs121909549 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007075 p.Arg425Cys LP/P rs121909554 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007076 p.Arg425Pro LP/P rs121909549 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007077 p.Ser426Leu LP/P rs121909550 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007078 p.Phe434Cys LP/P rs1572084546 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007079 p.Phe434Ser LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007080 p.Phe434Leu LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007081 p.Ala436Thr LP/P rs121909546 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007082 p.Asn437Lys LP/P rs1301351856 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007083 p.Arg438Met LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007084 p.Pro439Leu LP/P rs121909555 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007085 p.Pro439Thr LP/P rs1487411568 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007086 p.Ile453Thr LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007087 p.Gly456Arg LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007088 p.Arg457Thr LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007090 p.Ala459Asp LP/P rs1572084448 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007091 p.Pro461Leu LP/P rs121909564 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007092 p.Cys462Phe LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_009258 p.Arg438Gly LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_012316 p.Tyr95Ser LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_012748 p.Leu23Pro LP/P rs387906575 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_012750 p.Asn167Thr LB/B rs121909570 - SERPINC1 P01008 VAR_013085 p.Thr147Ala LB/B rs2227606 - SERPINC1 P01008 VAR_027450 p.Tyr17Ser LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027451 p.Cys32Arg LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027452 p.Tyr95Cys LP/P rs907768931 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027453 p.Leu98Pro LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027454 p.Met121Lys LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027455 p.Cys127Arg LP/P rs121909573 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027456 p.Lys146Glu LP/P rs1170430756 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027457 p.Cys160Tyr LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027458 p.Leu178His LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027459 p.Phe179Leu LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027460 p.Tyr198His LP/P rs1572090114 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027461 p.Ser214Phe LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027463 p.Ser223Pro LP/P rs121909572 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027464 p.Thr243Ile LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027465 p.Ile251Thr LP/P rs1423630663 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027466 p.Trp257Arg LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027467 p.Phe261Leu LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027468 p.Met283Val LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027469 p.Ser323Pro LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027470 p.Ser397Pro LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027471 p.Asp398His LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027472 p.Ser412Arg LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027473 p.Leu441Pro LP/P rs1188571702 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_071199 p.Cys53Phe LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_071200 p.Gly125Asp LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_071201 p.Ser170Pro LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_071202 p.Ile218Asn LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_071203 p.Val248Gly LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_071204 p.Arg293Pro LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_071205 p.His401Arg LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_071206 p.Pro439Ala LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_086227 p.Pro112Ser LP/P - Antithrombin III deficiency (AT3D) [MIM:613118] SERPIND1 P05546 VAR_007112 p.Arg208His LP/P rs5907 Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] SERPIND1 P05546 VAR_011746 p.Ala7Thr LB/B rs5905 - SERPIND1 P05546 VAR_011747 p.His60Pro LB/B rs165867 - SERPIND1 P05546 VAR_011748 p.Lys237Arg LB/B rs1042435 - SERPIND1 P05546 VAR_011749 p.Thr442Met LB/B rs5904 - SERPIND1 P05546 VAR_051953 p.Ser87Asn LB/B rs34324685 - SERPIND1 P05546 VAR_051954 p.Leu129Val LB/B rs11542069 - SERPIND1 P05546 VAR_054977 p.Glu447Lys LP/P rs142451096 Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] SERPIND1 P05546 VAR_054978 p.Pro462Leu LP/P rs121912420 Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] SERPINE1 P05121 VAR_007099 p.Ala15Thr LB/B rs6092 - SERPINE1 P05121 VAR_011750 p.Val17Ile LB/B rs6090 - SERPINE1 P05121 VAR_013086 p.His25Pro LB/B rs2227647 - SERPINE1 P05121 VAR_013087 p.Arg209His LB/B rs2227669 - SERPINE1 P05121 VAR_013088 p.Thr255Asn LB/B rs2227685 - SERPINE2 P07093 VAR_036027 p.Lys204Asn US - A breast cancer sample SERPINE2 P07093 VAR_051955 p.Ile51Met LB/B rs3795875 - SERPINE3 A8MV23 VAR_044021 p.Asp143Asn LB/B rs17790811 - SERPINF1 P36955 VAR_009126 p.Thr72Met LB/B rs1136287 - SERPINF1 P36955 VAR_025500 p.Pro132Arg LB/B rs1804145 - SERPINF2 P08697 VAR_013252 p.Ala27Val LB/B - - SERPINF2 P08697 VAR_013253 p.Arg33Trp LB/B rs2070863 - SERPINF2 P08697 VAR_013255 p.Val411Met LP/P rs121965062 Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850] SERPINF2 P08697 VAR_013256 p.Arg434Lys LB/B rs1057335 - SERPINF2 P08697 VAR_047951 p.Ala2Val LB/B rs2070862 - SERPINF2 P08697 VAR_051956 p.Ala98Gly LB/B rs36021516 - SERPINF2 P08697 VAR_061792 p.Pro451Ser LB/B rs57360598 - SERPING1 P05155 VAR_007013 p.Gly429Arg LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_007014 p.Val454Glu LP/P rs121907949 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_007015 p.Ala456Glu LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_007016 p.Ala458Thr LP/P rs121907947 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_007017 p.Ala458Val LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_007018 p.Ala465Val LP/P rs121907950 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_007019 p.Arg466Cys LP/P rs28940870 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_007020 p.Arg466His LP/P rs121907948 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_007021 p.Arg466Leu LP/P rs121907948 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_007022 p.Arg466Ser LP/P rs28940870 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_007023 p.Thr467Pro LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_007024 p.Val473Met LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_007025 p.Gln474Glu LB/B - - SERPING1 P05155 VAR_007026 p.Phe477Ser LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_007027 p.Val480Met LB/B rs4926 - SERPING1 P05155 VAR_007028 p.Leu481Pro LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_007029 p.Leu481Arg LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_007030 p.Pro489Arg LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_007031 p.Pro498Ser LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_011751 p.Thr308Ser LB/B rs1803212 - SERPING1 P05155 VAR_027374 p.Asp39Glu LB/B rs11229062 - SERPING1 P05155 VAR_027375 p.Val56Ala LB/B rs11546660 - SERPING1 P05155 VAR_027376 p.Gly345Arg LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_027379 p.Cys130Tyr LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_027380 p.Thr394Pro LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_027381 p.Asp408Val LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_027382 p.Val473Glu LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_027383 p.Gly493Glu LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_027384 p.Pro498Arg LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_068832 p.Thr118Ala LP/P rs200534715 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_068833 p.Tyr154Cys LP/P rs281875168 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_068834 p.Ser170Phe LP/P rs281875169 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_068835 p.Gly184Arg LP/P rs281875170 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_068836 p.Leu230Pro LP/P rs281875171 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_068837 p.Ile232Lys LP/P rs281875172 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_068839 p.Trp299Arg LP/P rs281875173 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_068840 p.Leu430Gln LP/P rs281875174 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_068841 p.Met441Thr LP/P rs281875175 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_068842 p.Leu447Pro LP/P rs281875176 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_068843 p.Val473Gly LP/P rs281875177 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_068844 p.Asp497Gly LP/P rs281875178 Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_071701 p.Leu11Arg LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_071702 p.Trp265Arg LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_071703 p.Ile274Val LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPING1 P05155 VAR_071704 p.Gly493Arg LP/P - Angioedema, hereditary, 1 (HAE1) [MIM:106100] SERPINH1 P50454 VAR_028445 p.Ala41Pro LB/B rs7105528 - SERPINH1 P50454 VAR_063602 p.Leu78Pro LP/P rs137853892 Osteogenesis imperfecta 10 (OI10) [MIM:613848] SERPINI1 Q99574 VAR_008520 p.Ser49Pro LP/P rs121909051 Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB) [MIM:604218] SERPINI1 Q99574 VAR_008521 p.Ser52Arg LP/P - Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB) [MIM:604218] SERPINI2 O75830 VAR_024357 p.Glu148Gly LB/B rs9841174 - SERPINI2 O75830 VAR_051957 p.Leu6Val LB/B rs17246389 - SERTAD1 Q9UHV2 VAR_015881 p.Thr31Ala LB/B rs268687 - SERTAD4-AS1 Q5TG53 VAR_046125 p.Arg91Gln LB/B rs624270 - SESN1 Q9Y6P5 VAR_014210 p.Leu44Ile LB/B rs2273668 - SESN2 P58004 VAR_022101 p.Thr320Ala LB/B rs2274848 - SESN3 P58005 VAR_051958 p.Arg71Cys LB/B rs10160385 - SESN3 P58005 VAR_051959 p.Ile227Thr LB/B rs11021069 - SESTD1 Q86VW0 VAR_036963 p.Tyr49Phe LB/B rs17854501 - SESTD1 Q86VW0 VAR_051919 p.Val563Ala LB/B rs1047994 - SET Q01105 VAR_081147 p.Trp95Gly LP/P rs1554776500 Intellectual developmental disorder, autosomal dominant 58 (MRD58) [MIM:618106] SET Q01105 VAR_081148 p.His118Tyr LP/P rs1564360978 Intellectual developmental disorder, autosomal dominant 58 (MRD58) [MIM:618106] SETBP1 Q9Y6X0 VAR_020317 p.Pro1130Thr LB/B rs1064204 - SETBP1 Q9Y6X0 VAR_024347 p.Val231Leu LB/B rs11082414 - SETBP1 Q9Y6X0 VAR_035987 p.Arg1162Trp US rs778181199 A colorectal cancer sample SETBP1 Q9Y6X0 VAR_054646 p.Val1101Ile LB/B rs3744825 - SETBP1 Q9Y6X0 VAR_063806 p.Asp868Ala LP/P rs267607041 Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] SETBP1 Q9Y6X0 VAR_063807 p.Asp868Asn LP/P rs267607042 Leukemia, chronic myeloid, atypical (ACML) [MIM:608232] SETBP1 Q9Y6X0 VAR_063807 p.Asp868Asn LP/P rs267607042 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] SETBP1 Q9Y6X0 VAR_063807 p.Asp868Asn LP/P rs267607042 Myelodysplastic syndrome (MDS) [MIM:614286] SETBP1 Q9Y6X0 VAR_063807 p.Asp868Asn LP/P rs267607042 Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] SETBP1 Q9Y6X0 VAR_063808 p.Gly870Asp LP/P rs267607039 Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] SETBP1 Q9Y6X0 VAR_063809 p.Gly870Ser LP/P rs267607040 Leukemia, acute myelogenous (AML) [MIM:601626] SETBP1 Q9Y6X0 VAR_063809 p.Gly870Ser LP/P rs267607040 Leukemia, chronic myeloid, atypical (ACML) [MIM:608232] SETBP1 Q9Y6X0 VAR_063809 p.Gly870Ser LP/P rs267607040 Myelodysplastic syndrome (MDS) [MIM:614286] SETBP1 Q9Y6X0 VAR_063809 p.Gly870Ser LP/P rs267607040 Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] SETBP1 Q9Y6X0 VAR_063810 p.Ile871Thr LP/P rs267607038 Leukemia, chronic myeloid, atypical (ACML) [MIM:608232] SETBP1 Q9Y6X0 VAR_063810 p.Ile871Thr LP/P rs267607038 Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] SETBP1 Q9Y6X0 VAR_069848 p.Ser854Ala LP/P - Leukemia, acute myelogenous (AML) [MIM:601626] SETBP1 Q9Y6X0 VAR_069849 p.Glu858Lys LP/P rs1178702025 Leukemia, chronic myeloid, atypical (ACML) [MIM:608232] SETBP1 Q9Y6X0 VAR_069850 p.Asp868Gly US - - SETBP1 Q9Y6X0 VAR_069851 p.Asp868Tyr US - - SETBP1 Q9Y6X0 VAR_069852 p.Ser869Asn LP/P - Myelodysplastic syndrome (MDS) [MIM:614286] SETBP1 Q9Y6X0 VAR_069853 p.Ser869Arg US - - SETBP1 Q9Y6X0 VAR_069854 p.Gly870Arg LP/P - Leukemia, acute myelogenous (AML) [MIM:601626] SETBP1 Q9Y6X0 VAR_069855 p.Gly870Val US - - SETBP1 Q9Y6X0 VAR_069856 p.Ile871Ser LP/P rs267607038 Leukemia, acute myelogenous (AML) [MIM:601626] SETBP1 Q9Y6X0 VAR_069857 p.Thr873Arg LP/P - Myelodysplastic syndrome (MDS) [MIM:614286] SETBP1 Q9Y6X0 VAR_069858 p.Asp874Asn US - - SETBP1 Q9Y6X0 VAR_069859 p.Asp880Ala US - - SETBP1 Q9Y6X0 VAR_069860 p.Asp880Glu US - - SETBP1 Q9Y6X0 VAR_069861 p.Asp880Asn US - - SETBP1 Q9Y6X0 VAR_069862 p.Asp908Asn LB/B rs559186877 - SETBP1 Q9Y6X0 VAR_069863 p.Arg1321His LB/B rs149638556 - SETBP1 Q9Y6X0 VAR_069864 p.Val1377Leu LB/B rs77518617 - SETD1A O15047 VAR_059318 p.Asp639Asn LB/B rs897985 - SETD1A O15047 VAR_083962 p.Gln269Arg LP/P - Epilepsy, early-onset, 2, with or without developmental delay (EPEO2) [MIM:618832] SETD1A O15047 VAR_083963 p.Arg913Cys LP/P - Epilepsy, early-onset, 2, with or without developmental delay (EPEO2) [MIM:618832] SETD1A O15047 VAR_083964 p.Gly1369Arg LP/P rs781482552 Epilepsy, early-onset, 2, with or without developmental delay (EPEO2) [MIM:618832] SETD1A O15047 VAR_083965 p.Arg1392His LP/P rs772206552 Epilepsy, early-onset, 2, with or without developmental delay (EPEO2) [MIM:618832] SETD1A O15047 VAR_085008 p.Tyr1499Asp LP/P - Neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) [MIM:619056] SETD1B Q9UPS6 VAR_084717 p.Val129Gly LP/P - Intellectual developmental disorder with seizures and language delay (IDDSELD) [MIM:619000] SETD1B Q9UPS6 VAR_084720 p.Arg1885Trp LP/P - Intellectual developmental disorder with seizures and language delay (IDDSELD) [MIM:619000] SETD1B Q9UPS6 VAR_084721 p.Arg1902Cys LP/P - Intellectual developmental disorder with seizures and language delay (IDDSELD) [MIM:619000] SETD1B Q9UPS6 VAR_084722 p.Phe1945Leu LP/P - Intellectual developmental disorder with seizures and language delay (IDDSELD) [MIM:619000] SETD2 Q9BYW2 VAR_027839 p.Val768Leu LB/B rs9311404 - SETD2 Q9BYW2 VAR_027840 p.Ala1868Asp LB/B rs11721074 - SETD2 Q9BYW2 VAR_027841 p.Pro1962Leu LB/B rs4082155 - SETD2 Q9BYW2 VAR_061216 p.Glu902Gln LB/B rs58906143 - SETD2 Q9BYW2 VAR_069812 p.Asn1733Asp LP/P - Renal cell carcinoma (RCC) [MIM:144700] SETD2 Q9BYW2 VAR_069813 p.Ser1769Pro LP/P - Renal cell carcinoma (RCC) [MIM:144700] SETD2 Q9BYW2 VAR_076536 p.Leu1815Trp US rs869025570 Luscan-Lumish syndrome (LLS) [MIM:616831] SETD2 Q9BYW2 VAR_078707 p.Tyr488Cys US rs757781388 - SETD2 Q9BYW2 VAR_079054 p.Lys2Arg US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079055 p.Glu19Gly US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079057 p.Pro226Ser US rs780963440 Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079058 p.Val267Ile US rs186148199 Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079059 p.Ser470Pro US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079060 p.Thr499Ala US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079061 p.Met761Ile US rs188887061 Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079063 p.Ser800Asn US rs1169288572 Leukemia, acute myelogenous (AML) [MIM:601626] SETD2 Q9BYW2 VAR_079064 p.Ser1076Pro US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079065 p.Ser1093Gly US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079066 p.Thr1171Ala US rs540476365 Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079067 p.Asp1351Gly US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079068 p.Gly1365Glu US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079069 p.Asp1397Gly US rs754921650 Leukemia, acute myelogenous (AML) [MIM:601626] SETD2 Q9BYW2 VAR_079071 p.Asp1453Asn US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079072 p.Asp1493Asn US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079074 p.Leu1609Pro US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079075 p.Lys1654Gln US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079076 p.Thr1663Met US rs1478147351 Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079077 p.Leu1804Ser US - Leukemia, acute myelogenous (AML) [MIM:601626] SETD2 Q9BYW2 VAR_079078 p.Leu1821Pro US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079079 p.Val1915Ala US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079080 p.Glu1920Val US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079082 p.Arg2122Trp US - Leukemia, acute myelogenous (AML) [MIM:601626] SETD2 Q9BYW2 VAR_079083 p.Thr2214Ala US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079085 p.Pro2361Ser US - Leukemia, acute lymphoblastic (ALL) [MIM:613065] SETD2 Q9BYW2 VAR_079086 p.Phe2505Leu US - Leukemia, acute myelogenous (AML) [MIM:601626] SETD2 Q9BYW2 VAR_087881 p.Arg1740Gln LP/P - Intellectual developmental disorder, autosomal dominant 70 (MRD70) [MIM:620157] SETD2 Q9BYW2 VAR_087882 p.Arg1740Trp LP/P - Rabin-Pappas syndrome (RAPAS) [MIM:620155] SETD3 Q86TU7 VAR_028830 p.Asn278Asp LB/B rs1740231 - SETD4 Q9NVD3 VAR_021948 p.Ile387Val LB/B rs2835239 - SETD4 Q9NVD3 VAR_035988 p.Glu420Gly US - A colorectal cancer sample SETD5 Q9C0A6 VAR_051336 p.Arg77His LB/B rs41387348 - SETD5 Q9C0A6 VAR_051337 p.Arg119Ile LB/B rs11720526 - SETD5 Q9C0A6 VAR_051338 p.Met1137Val LB/B rs13327456 - SETD5 Q9C0A6 VAR_061705 p.Thr1308Ile LB/B rs11542009 - SETD5 Q9C0A6 VAR_078954 p.Ser175Gly LP/P - Intellectual developmental disorder, autosomal dominant 23 (MRD23) [MIM:615761] SETD5 Q9C0A6 VAR_078961 p.Tyr1071Cys US - Intellectual developmental disorder, autosomal dominant 23 (MRD23) [MIM:615761] SETD6 Q8TBK2 VAR_064590 p.Arg185Ser LB/B rs17852020 - SETD6 Q8TBK2 VAR_064591 p.Arg206Gly LB/B rs17852021 - SETD6 Q8TBK2 VAR_064592 p.Asp340Asn LB/B rs11865588 - SETD6 Q8TBK2 VAR_064593 p.Thr426Ala LB/B rs34965375 - SETD6 Q8TBK2 VAR_064594 p.Ala445Val LB/B rs36085499 - SETD9 Q8NE22 VAR_034875 p.Ser76Thr LB/B rs2257505 - SETD9 Q8NE22 VAR_034876 p.Lys209Glu LB/B rs40497 - SETDB1 Q15047 VAR_014284 p.Asn236Ser LB/B rs2271075 - SETDB1 Q15047 VAR_014285 p.Ala824Pro LB/B rs2814054 - SETDB1 Q15047 VAR_014286 p.Ala824Gly LB/B rs2691551 - SETDB1 Q15047 VAR_031281 p.Pro506Ser LB/B rs17852587 - SETDB2 Q96T68 VAR_016976 p.Val473Met LB/B rs2057413 - SETDB2 Q96T68 VAR_031282 p.Glu117Gly LB/B rs7998427 - SETX Q7Z333 VAR_018776 p.Thr3Ile LP/P rs28941475 Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433] SETX Q7Z333 VAR_018777 p.Trp305Cys LP/P rs1564548971 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002] SETX Q7Z333 VAR_018778 p.Arg332Trp LP/P rs29001665 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002] SETX Q7Z333 VAR_018779 p.Leu389Ser LP/P rs29001584 Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433] SETX Q7Z333 VAR_018780 p.Pro413Leu LP/P rs1564547645 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002] SETX Q7Z333 VAR_018781 p.Ala660Gly LB/B rs882709 - SETX Q7Z333 VAR_018782 p.Pro1061Leu LB/B rs12352982 - SETX Q7Z333 VAR_018783 p.Phe1152Cys LB/B rs3739922 - SETX Q7Z333 VAR_018784 p.Asp1192Glu LB/B rs1185193 - SETX Q7Z333 VAR_018785 p.Gly1252Arg LB/B rs1183768 - SETX Q7Z333 VAR_018786 p.Pro1331Leu LB/B rs11243731 - SETX Q7Z333 VAR_018787 p.Ile1386Val LB/B rs543573 - SETX Q7Z333 VAR_018788 p.Phe1756Ser LP/P rs762175796 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002] SETX Q7Z333 VAR_018789 p.Thr1855Ala LB/B rs2296871 - SETX Q7Z333 VAR_018790 p.Arg2136His LP/P rs121434378 Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433] SETX Q7Z333 VAR_018791 p.Pro2213Leu LP/P rs28940290 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002] SETX Q7Z333 VAR_018792 p.Ile2587Val LB/B rs1056899 - SETX Q7Z333 VAR_018793 p.Ser2612Gly LB/B rs3739927 - SETX Q7Z333 VAR_036646 p.Met274Ile LP/P rs997473183 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002] SETX Q7Z333 VAR_036647 p.Asn603Asp LP/P rs116205032 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002] SETX Q7Z333 VAR_036648 p.Gln653Lys LP/P rs116333061 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002] SETX Q7Z333 VAR_036649 p.Arg1294Cys LP/P rs267607044 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002] SETX Q7Z333 VAR_036650 p.Pro2368Arg LP/P rs1420833435 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002] SETX Q7Z333 VAR_056208 p.Lys1221Asn LB/B rs12344006 - SETX Q7Z333 VAR_059458 p.Thr1855Pro LB/B rs2296871 - SETX Q7Z333 VAR_071682 p.Ile331Lys LP/P rs1422277504 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002] SETX Q7Z333 VAR_071683 p.Pro496Leu LP/P rs1320071128 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002] SETX Q7Z333 VAR_071684 p.Lys992Arg LB/B rs61742937 - SETX Q7Z333 VAR_071685 p.Cys1554Gly LP/P rs112089123 Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433] SETX Q7Z333 VAR_071686 p.Lys2029Glu LP/P rs746525639 Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433] SETX Q7Z333 VAR_071687 p.Met2229Thr LP/P rs1471824334 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002] SETX Q7Z333 VAR_071688 p.Ile2547Thr LP/P rs151117904 Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433] SETX Q7Z333 VAR_072587 p.Met274Val LP/P rs753713810 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002] SETX Q7Z333 VAR_072588 p.Leu1976Arg LP/P rs121434379 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002] SEZ6 Q53EL9 VAR_044048 p.Val300Met LB/B rs1428430471 - SEZ6 Q53EL9 VAR_044049 p.Ala330Val LB/B rs754657367 - SEZ6 Q53EL9 VAR_044050 p.Thr546Ala LB/B rs1976165 - SEZ6 Q53EL9 VAR_044051 p.Val592Ala LB/B rs1397876475 - SEZ6 Q53EL9 VAR_044052 p.Tyr736Asn LB/B - - SEZ6 Q53EL9 VAR_044053 p.Leu756Val LB/B - - SEZ6 Q53EL9 VAR_044054 p.Met806Thr LB/B rs12941884 - SEZ6L Q9BYH1 VAR_020330 p.Met430Ile LB/B rs663048 - SEZ6L Q9BYH1 VAR_024348 p.Trp185Leu LB/B rs137203 - SEZ6L Q9BYH1 VAR_043338 p.Pro52Leu LB/B rs6004989 - SEZ6L Q9BYH1 VAR_043339 p.Gln671His LB/B rs586542 - SEZ6L2 Q6UXD5 VAR_065205 p.Arg74Pro LB/B rs11649499 - SF1 Q15637 VAR_017196 p.Ser357Thr LB/B - - SF3A1 Q15459 VAR_036290 p.Arg511Trp US rs765594577 A colorectal cancer sample SF3B3 Q15393 VAR_053647 p.Gly908Arg LB/B rs11551673 - SFI1 A8K8P3 VAR_043439 p.His13Leu LB/B rs5749290 - SFI1 A8K8P3 VAR_043440 p.Arg72His LB/B rs16989698 - SFI1 A8K8P3 VAR_043441 p.Gln167His LB/B rs7511430 - SFI1 A8K8P3 VAR_043442 p.Tyr322His LB/B rs5753700 - SFI1 A8K8P3 VAR_043443 p.Trp330Arg LB/B rs16989291 - SFI1 A8K8P3 VAR_043444 p.Arg549Gln LB/B rs2006771 - SFI1 A8K8P3 VAR_043445 p.Leu1087Pro LB/B rs12171042 - SFI1 A8K8P3 VAR_062234 p.Arg760His LB/B rs9621295 - SFMBT2 Q5VUG0 VAR_051362 p.Pro675Arg LB/B rs3740212 - SFN P31947 VAR_048095 p.Met155Ile LB/B rs11542705 - SFR1 Q86XK3 VAR_023098 p.Asp19Gly LB/B rs10786783 - SFRP2 Q96HF1 VAR_051963 p.Ala45Val LB/B rs4643790 - SFRP4 Q6FHJ7 VAR_051964 p.Pro320Thr LB/B rs1802073 - SFRP4 Q6FHJ7 VAR_051965 p.Arg340Lys LB/B rs1802074 - SFRP5 Q5T4F7 VAR_021412 p.Gly7Ala LB/B rs11815012 - SFSWAP Q12872 VAR_021789 p.Leu421Pro LB/B rs1982528 - SFSWAP Q12872 VAR_046442 p.Leu52Gln LB/B rs1051207 - SFSWAP Q12872 VAR_046443 p.Leu122Phe LB/B rs1051314 - SFSWAP Q12872 VAR_046444 p.Leu136Phe LB/B rs1131564 - SFSWAP Q12872 VAR_057248 p.Gly512Ser LB/B rs34541796 - SFSWAP Q12872 VAR_057249 p.Glu538Gly LB/B rs34744641 - SFSWAP Q12872 VAR_057250 p.Ala887Glu LB/B rs34729193 - SFT2D1 Q8WV19 VAR_034492 p.Ile109Val LB/B rs11551053 - SFT2D3 Q587I9 VAR_026558 p.Arg38Gly LB/B rs10206957 - SFTA2 Q6UW10 VAR_034423 p.Asn37Ser LB/B rs3131787 - SFTPA1 Q8IWL2 VAR_004184 p.Asn9Thr LB/B rs139899873 - SFTPA1 Q8IWL2 VAR_012231 p.Leu50Val LB/B rs1136450 - SFTPA1 Q8IWL2 VAR_012232 p.Arg219Trp LB/B rs4253527 - SFTPA1 Q8IWL2 VAR_012233 p.Gln223Lys LB/B rs1965708 - SFTPA1 Q8IWL2 VAR_021292 p.Val19Ala LB/B rs1059047 - SFTPA1 Q8IWL2 VAR_063517 p.Pro5Leu LB/B rs72659389 - SFTPA1 Q8IWL2 VAR_086118 p.Val178Met LP/P - Interstitial lung disease 1 (ILD1) [MIM:619611] SFTPA1 Q8IWL2 VAR_086119 p.Tyr208His LP/P - Interstitial lung disease 1 (ILD1) [MIM:619611] SFTPA1 Q8IWL2 VAR_086120 p.Trp211Arg LP/P - Interstitial lung disease 1 (ILD1) [MIM:619611] SFTPA1 Q8IWL2 VAR_086121 p.Val225Met US - Interstitial lung disease 1 (ILD1) [MIM:619611] SFTPA2 Q8IWL1 VAR_021293 p.Thr9Asn LB/B rs1059046 - SFTPA2 Q8IWL1 VAR_021294 p.Val50Leu LB/B rs192907309 - SFTPA2 Q8IWL1 VAR_021295 p.Ala91Pro LB/B rs17886395 - SFTPA2 Q8IWL1 VAR_021296 p.Gln223Lys LB/B rs1965708 - SFTPA2 Q8IWL1 VAR_063518 p.Leu12Trp LB/B rs72659394 - SFTPA2 Q8IWL1 VAR_063519 p.Phe198Ser LP/P rs121917738 Interstitial lung disease 2 (ILD2) [MIM:178500] SFTPA2 Q8IWL1 VAR_063520 p.Gly231Val LP/P rs121917737 Interstitial lung disease 2 (ILD2) [MIM:178500] SFTPA2 Q8IWL1 VAR_086122 p.Asn171Ile US - Interstitial lung disease 2 (ILD2) [MIM:178500] SFTPA2 Q8IWL1 VAR_086123 p.Val178Met LP/P - Interstitial lung disease 2 (ILD2) [MIM:178500] SFTPA2 Q8IWL1 VAR_086124 p.Tyr181Cys US - Interstitial lung disease 2 (ILD2) [MIM:178500] SFTPA2 Q8IWL1 VAR_086125 p.Trp233Cys LP/P - Interstitial lung disease 2 (ILD2) [MIM:178500] SFTPA2 Q8IWL1 VAR_086126 p.Trp233Leu LP/P - Interstitial lung disease 2 (ILD2) [MIM:178500] SFTPA2 Q8IWL1 VAR_086127 p.Trp233Arg LP/P - Interstitial lung disease 2 (ILD2) [MIM:178500] SFTPA2 Q8IWL1 VAR_086128 p.Cys238Ser LP/P - Interstitial lung disease 2 (ILD2) [MIM:178500] SFTPA2 Q8IWL1 VAR_086129 p.Arg242Gln US - Interstitial lung disease 2 (ILD2) [MIM:178500] SFTPB P07988 VAR_006948 p.Thr131Ile LB/B rs1130866 - SFTPB P07988 VAR_006949 p.Ala228Arg US - - SFTPB P07988 VAR_006950 p.Ala228Ile US - - SFTPB P07988 VAR_013099 p.Leu176Phe LB/B rs3024801 - SFTPB P07988 VAR_013100 p.Arg272His LB/B rs3024809 - SFTPB P07988 VAR_036856 p.Arg236Cys LP/P rs137853202 Pulmonary surfactant metabolism dysfunction 1 (SMDP1) [MIM:265120] SFTPC P11686 VAR_007453 p.Thr138Asn LB/B rs4715 - SFTPC P11686 VAR_016175 p.Ser186Asn LB/B rs1124 - SFTPC P11686 VAR_026753 p.Ile73Thr LP/P rs121917834 Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913] SFTPC P11686 VAR_026754 p.Ala116Asp LP/P rs121918559 Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913] SFTPC P11686 VAR_026755 p.Arg167Gln LP/P rs34957318 Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913] SFTPC P11686 VAR_026756 p.Leu188Gln LP/P rs121917835 Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913] SFTPC P11686 VAR_036855 p.Glu66Lys LP/P rs121917836 Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913] SFTPD P35247 VAR_020937 p.Met31Thr LB/B rs721917 - SFTPD P35247 VAR_020938 p.Leu123Val LB/B rs17878336 - SFTPD P35247 VAR_020939 p.Thr180Ala LB/B rs2243639 - SFTPD P35247 VAR_020940 p.Ser290Thr LB/B rs3088308 - SFTPD P35247 VAR_020941 p.Glu309Lys LB/B rs4469829 - SFXN1 Q9H9B4 VAR_051966 p.Asn26Ser LB/B rs17065105 - SFXN1 Q9H9B4 VAR_051967 p.Pro266Ser LB/B rs34907038 - SGCA Q16586 VAR_010387 p.Arg77Cys LP/P rs28933693 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010388 p.Arg98His LP/P rs137852621 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010389 p.Val175Ala LP/P rs137852622 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010390 p.Arg284Cys LP/P rs137852623 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010402 p.Pro30Leu LP/P rs886043256 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010403 p.Leu31Pro LP/P rs903823830 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010404 p.Arg34Cys LP/P rs758647756 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010405 p.Arg34His LP/P rs371675217 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010406 p.Tyr62His LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010407 p.Gly68Glu LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010408 p.Arg74Trp LP/P rs757888349 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010409 p.Leu89Pro LP/P rs1435014211 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010410 p.Gly91Arg LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010411 p.Ala93Val LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010412 p.Asp97Gly LP/P rs1555568396 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010413 p.Arg98Cys LP/P rs138945081 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010414 p.Ile103Thr LP/P rs1161291343 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010415 p.Ile124Thr LP/P rs768814872 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010416 p.Glu137Lys LP/P rs372210292 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010417 p.Leu158Phe LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010418 p.Val196Ile LP/P rs752695991 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010419 p.Pro205His LP/P rs757481230 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010420 p.Val242Ala LP/P rs1384158714 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010431 p.Leu173Pro LP/P rs143962150 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010432 p.Pro228Gln LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_010433 p.Val247Met LP/P rs143570936 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_037966 p.Glu137Gly LP/P rs397514451 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_081098 p.Leu76Phe LP/P rs1555568335 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCA Q16586 VAR_081099 p.Arg81Cys LP/P rs398123098 Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099] SGCB Q16585 VAR_010391 p.Arg91Leu LP/P rs104893869 Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286] SGCB Q16585 VAR_010392 p.Arg91Pro LP/P rs104893869 Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286] SGCB Q16585 VAR_010393 p.Met100Lys LP/P rs104893871 Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286] SGCB Q16585 VAR_010394 p.Leu108Arg LP/P rs104893870 Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286] SGCB Q16585 VAR_010395 p.Thr151Arg LP/P rs28936383 Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286] SGCB Q16585 VAR_010421 p.Gln11Glu LP/P rs752492870 Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286] SGCB Q16585 VAR_010422 p.Arg91Cys LP/P rs555514820 Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286] SGCB Q16585 VAR_010423 p.Ser114Phe LP/P rs150518260 Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286] SGCB Q16585 VAR_010424 p.Ile119Phe LP/P rs762412447 Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286] SGCB Q16585 VAR_010425 p.Gly139Asp LP/P rs1560567653 Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286] SGCB Q16585 VAR_010426 p.Gly167Ser LP/P rs779516489 Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286] SGCB Q16585 VAR_010427 p.Thr182Ala LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286] SGCB Q16585 VAR_010428 p.Tyr184Cys LB/B rs1365923535 - SGCD Q92629 VAR_010396 p.Glu261Lys LP/P rs121909297 Muscular dystrophy, limb-girdle, autosomal recessive 6 (LGMDR6) [MIM:601287] SGCD Q92629 VAR_010429 p.Arg96Gln LB/B rs45559835 - SGCD Q92629 VAR_013181 p.Ser150Ala LP/P rs121909298 Cardiomyopathy, dilated, 1L (CMD1L) [MIM:606685] SGCE O43556 VAR_026750 p.Leu196Arg LP/P rs121908491 Dystonia 11, myoclonic (DYT11) [MIM:159900] SGCE O43556 VAR_058088 p.Asn49Ser LB/B rs11548284 - SGCE O43556 VAR_058089 p.Pro399His LB/B rs17851923 - SGCE O43556 VAR_066732 p.Thr36Arg LP/P - Dystonia 11, myoclonic (DYT11) [MIM:159900] SGCE O43556 VAR_066733 p.His60Pro LP/P - Dystonia 11, myoclonic (DYT11) [MIM:159900] SGCE O43556 VAR_066734 p.His60Arg LP/P - Dystonia 11, myoclonic (DYT11) [MIM:159900] SGCE O43556 VAR_066735 p.Met92Thr LP/P - Dystonia 11, myoclonic (DYT11) [MIM:159900] SGCE O43556 VAR_066736 p.Trp100Gly LP/P - Dystonia 11, myoclonic (DYT11) [MIM:159900] SGCE O43556 VAR_066737 p.Gly112Arg LP/P - Dystonia 11, myoclonic (DYT11) [MIM:159900] SGCE O43556 VAR_066738 p.Tyr115Cys LP/P - Dystonia 11, myoclonic (DYT11) [MIM:159900] SGCE O43556 VAR_066739 p.Leu175Ser LP/P - Dystonia 11, myoclonic (DYT11) [MIM:159900] SGCE O43556 VAR_066740 p.Ser177Cys LP/P - Dystonia 11, myoclonic (DYT11) [MIM:159900] SGCE O43556 VAR_066741 p.Leu184Pro LP/P rs1064794321 Dystonia 11, myoclonic (DYT11) [MIM:159900] SGCE O43556 VAR_066742 p.Trp270Arg LP/P - Dystonia 11, myoclonic (DYT11) [MIM:159900] SGCE O43556 VAR_066743 p.Cys271Tyr LP/P rs372686312 Dystonia 11, myoclonic (DYT11) [MIM:159900] SGCG Q13326 VAR_010397 p.Arg116His LB/B rs17314986 - SGCG Q13326 VAR_010398 p.Cys283Tyr LP/P rs104894422 Muscular dystrophy, limb-girdle, autosomal recessive 5 (LGMDR5) [MIM:253700] SGCG Q13326 VAR_010399 p.Asn287Ser LB/B rs1800354 - SGCG Q13326 VAR_010430 p.Gly69Asp LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 5 (LGMDR5) [MIM:253700] SGCG Q13326 VAR_012202 p.Gly69Arg LP/P - Muscular dystrophy, limb-girdle, autosomal recessive 5 (LGMDR5) [MIM:253700] SGCG Q13326 VAR_081101 p.Leu71Ser LP/P rs143009120 Muscular dystrophy, limb-girdle, autosomal recessive 5 (LGMDR5) [MIM:253700] SGIP1 Q9BQI5 VAR_027297 p.Glu112Gln LB/B rs17490057 - SGIP1 Q9BQI5 VAR_027298 p.Lys131Arg LB/B rs7526812 - SGIP1 Q9BQI5 VAR_027299 p.Pro161Gln LB/B rs17855645 - SGIP1 Q9BQI5 VAR_027300 p.Lys575Glu LB/B rs17854026 - SGK1 O00141 VAR_041071 p.Val219Ile LB/B rs34133418 - SGK1 O00141 VAR_041072 p.Ala342Val LB/B rs55932330 - SGK2 Q9HBY8 VAR_041074 p.Glu199Lys US - A lung adenocarcinoma sample SGK2 Q9HBY8 VAR_041075 p.His289Tyr LB/B rs35793869 - SGK3 Q96BR1 VAR_035636 p.Ala92Val US - A breast cancer sample SGK3 Q96BR1 VAR_041076 p.Leu355Pro LB/B rs750700898 - SGMS2 Q8NHU3 VAR_052025 p.Thr21Met LB/B rs17038204 - SGMS2 Q8NHU3 VAR_082675 p.Ile62Ser US - Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia (CDLSMD) [MIM:126550] SGMS2 Q8NHU3 VAR_082676 p.Met64Arg US - Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia (CDLSMD) [MIM:126550] SGO1 Q5FBB7 VAR_051968 p.Val171Ala LB/B rs6806241 - SGO1 Q5FBB7 VAR_051969 p.Gln322Pro LB/B rs9868701 - SGO1 Q5FBB7 VAR_072709 p.Lys23Glu LP/P rs199815268 Chronic atrial and intestinal dysrhythmia (CAID) [MIM:616201] SGO2 Q562F6 VAR_024784 p.Gly9Asp LB/B rs1036533 - SGO2 Q562F6 VAR_024785 p.Ile496Val LB/B rs17448235 - SGO2 Q562F6 VAR_057178 p.Glu343Ala LB/B rs13417812 - SGO2 Q562F6 VAR_057179 p.Asn660Ser LB/B rs17532665 - SGO2 Q562F6 VAR_057180 p.Ile1099Thr LB/B rs11896759 - SGO2 Q562F6 VAR_057181 p.His1143Arg LB/B rs16833776 - SGPL1 O95470 VAR_048875 p.Val21Leu LB/B rs12770335 - SGPL1 O95470 VAR_079213 p.Arg222Gln LP/P rs769259446 RENI syndrome (RENI) [MIM:617575] SGPL1 O95470 VAR_079214 p.Arg222Trp LP/P rs1131692255 RENI syndrome (RENI) [MIM:617575] SGPL1 O95470 VAR_079215 p.Ser346Ile LP/P rs1131692256 RENI syndrome (RENI) [MIM:617575] SGPL1 O95470 VAR_079216 p.Tyr416Cys US rs779485098 RENI syndrome (RENI) [MIM:617575] SGPL1 O95470 VAR_081454 p.Ile184Thr LB/B rs201533115 - SGPL1 O95470 VAR_081455 p.Arg340Trp US rs1437439236 RENI syndrome (RENI) [MIM:617575] SGSH P51688 VAR_007388 p.Tyr40Asn LP/P rs1598758001 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007389 p.Ala44Thr LP/P rs1057521146 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007390 p.Ser66Trp LP/P rs104894637 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007391 p.Arg74Cys LP/P rs104894636 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007392 p.Arg74His LP/P rs778336949 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007393 p.Thr79Pro LP/P rs779703983 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007395 p.Gln85Arg LP/P - Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007396 p.Gly90Arg LP/P rs774010006 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007397 p.Gly122Arg LP/P rs761607612 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007398 p.Pro128Leu LP/P rs104894642 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007399 p.Val131Met LP/P rs370636303 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007400 p.Thr139Met LP/P rs775112689 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007401 p.Leu146Pro LP/P rs749358773 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007402 p.Arg150Gln LP/P rs104894638 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007403 p.Asp179Asn LP/P rs774773010 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007404 p.Arg182Cys LP/P rs529855742 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007405 p.Phe193Leu LP/P - Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007406 p.Arg206Pro LP/P rs104894643 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007407 p.Val226Ala LB/B - - SGSH P51688 VAR_007408 p.Pro227Arg LP/P rs774602372 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007409 p.Ala234Gly LP/P rs113641837 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007410 p.Asp235Val LP/P rs763800418 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007411 p.Arg245His LP/P rs104894635 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007412 p.Ser298Pro LP/P rs138504221 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007413 p.Thr321Ala LP/P rs758756630 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007414 p.Ala354Pro LP/P - Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007415 p.Val361Ile LB/B rs9894254 - SGSH P51688 VAR_007416 p.Ser364Arg LP/P rs1428699412 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007417 p.Glu369Lys LP/P rs104894640 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007418 p.Arg377Cys LP/P rs772311757 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007419 p.Arg377His LP/P rs746037899 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007420 p.Gln380Arg LP/P rs144143780 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007421 p.Leu386Arg LP/P - Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007422 p.Asn389Lys LP/P rs764057581 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007423 p.Glu447Lys LP/P rs104894639 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007424 p.Arg456His LB/B rs7503034 - SGSH P51688 VAR_052517 p.Met394Ile LB/B rs34297805 - SGSH P51688 VAR_054670 p.Asp32Glu LP/P rs139850991 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054671 p.Asp32Gly LP/P - Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054672 p.Asn42Lys LP/P - Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054673 p.His84Tyr LP/P - Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054674 p.Met88Thr LP/P rs1299601360 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054675 p.Ser106Arg LP/P - Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054676 p.Arg150Trp LP/P rs1479831530 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054677 p.Leu163Pro LP/P - Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054678 p.Gly191Arg LP/P rs753666460 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054679 p.Asp235Asn LP/P rs753472891 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054680 p.Gly251Ala LP/P rs144461610 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054681 p.Asp273Asn LP/P rs1046551417 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054682 p.Pro288Ser LP/P - Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054683 p.Pro293Ser LP/P rs143947056 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054684 p.Pro293Thr LP/P - Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054685 p.Glu300Val LP/P - Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054686 p.Arg304Leu LB/B rs745884647 - SGSH P51688 VAR_054687 p.Gln307Pro LP/P - Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054688 p.Ile322Ser LP/P - Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054689 p.Glu355Lys LP/P rs766938111 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054690 p.Tyr374His LP/P rs1237611456 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054692 p.Val387Met LB/B rs62620232 - SGSH P51688 VAR_054695 p.Arg433Gln LP/P rs104894641 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054696 p.Arg433Trp LP/P rs777267343 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054698 p.Val486Phe LP/P - Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_061884 p.Met372Ile LB/B rs58786455 - SGSH P51688 VAR_079427 p.Asp477Asn US rs1064795109 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] SGSM1 Q2NKQ1 VAR_031834 p.Thr802Pro LB/B rs6004350 - SGSM1 Q2NKQ1 VAR_031835 p.Arg873Lys LB/B rs2073201 - SGSM2 O43147 VAR_031795 p.Leu63Met LB/B rs17853891 - SGSM2 O43147 VAR_031796 p.Arg238Lys LB/B rs745400 - SGSM2 O43147 VAR_031797 p.Arg244Ser LB/B rs17853888 - SGSM2 O43147 VAR_031798 p.His329Arg LB/B rs17857178 - SGSM2 O43147 VAR_031799 p.Arg374Gln LB/B rs2248821 - SGSM2 O43147 VAR_031800 p.Asp968Val LB/B rs17857180 - SGSM3 Q96HU1 VAR_051345 p.Trp20Arg LB/B rs9611338 - SGSM3 Q96HU1 VAR_051346 p.His279Gln LB/B rs34243479 - SH2B1 Q9NRF2 VAR_039550 p.Thr484Ala LB/B rs7498665 - SH2B1 Q9NRF2 VAR_039551 p.Val541Ala LB/B rs17850682 - SH2B3 Q9UQQ2 VAR_024168 p.Trp262Arg LB/B rs3184504 - SH2B3 Q9UQQ2 VAR_046210 p.Phe182Leu LB/B rs7972796 - SH2B3 Q9UQQ2 VAR_080829 p.Ala215Val US - - SH2D1A O60880 VAR_005612 p.Arg32Thr LP/P rs111033624 Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_005613 p.Thr68Ile LP/P rs111033627 Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_005614 p.Pro101Leu LP/P rs111033626 Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_018307 p.Arg55Leu LP/P rs111033630 Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048005 p.Tyr7Cys LP/P rs1569527111 Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048006 p.His8Asp LP/P - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048007 p.Gly16Asp LP/P - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048008 p.Gly27Ser LP/P - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048009 p.Ser28Arg LP/P - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048010 p.Leu31Pro LP/P - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048011 p.Asp33Tyr LP/P - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048012 p.Cys42Trp LP/P - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048013 p.Gly49Val LP/P - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048014 p.Thr53Ile LP/P - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048015 p.Tyr54Cys LP/P - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048016 p.Ser57Pro US - - SH2D1A O60880 VAR_048017 p.Ile84Thr LP/P - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048018 p.Phe87Ser LP/P - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048019 p.Gln99Pro LP/P - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048020 p.Val102Gly LP/P - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_088139 p.Ala22Pro US - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_088140 p.Cys42Tyr US - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_088142 p.Arg55Gln US - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_088143 p.Glu67Gly US - Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1B O14796 VAR_051347 p.Ile36Thr LB/B rs35688243 - SH2D1B O14796 VAR_051348 p.Asn122Lys LB/B rs34001279 - SH2D2A Q9NP31 VAR_024349 p.Asn52Ser LB/B rs926103 - SH2D2A Q9NP31 VAR_056986 p.Arg272Cys LB/B rs12072861 - SH2D3A Q9BRG2 VAR_026054 p.Asn32Asp LB/B rs7258236 - SH2D3A Q9BRG2 VAR_035989 p.Glu265Gly US - A breast cancer sample SH2D3A Q9BRG2 VAR_051349 p.Asp223Gly LB/B rs12608960 - SH2D3C Q8N5H7 VAR_051352 p.Leu23Phe LB/B rs10760500 - SH2D4A Q9H788 VAR_026055 p.Glu216Gly LB/B rs4921637 - SH2D4A Q9H788 VAR_026056 p.Gly263Ala LB/B rs877386 - SH2D4A Q9H788 VAR_051350 p.Glu209Gly LB/B rs35647122 - SH2D4A Q9H788 VAR_051351 p.Ser275Asn LB/B rs34608771 - SH2D4B Q5SQS7 VAR_056987 p.His237Arg LB/B rs7075840 - SH2D4B Q5SQS7 VAR_056988 p.Ser239Leu LB/B rs11817391 - SH2D7 A6NKC9 VAR_060127 p.Met137Thr LB/B rs2289524 - SH2D7 A6NKC9 VAR_060128 p.Arg206Trp LB/B rs12593575 - SH3BGR P55822 VAR_028233 p.Val188Ala LB/B rs9974333 - SH3BGR P55822 VAR_057182 p.Asp23Glu LB/B rs11575939 - SH3BGR P55822 VAR_057183 p.Asp50Asn LB/B rs6517549 - SH3BP1 Q9Y3L3 VAR_033450 p.Pro511Leu LB/B rs929038 - SH3BP1 Q9Y3L3 VAR_033451 p.Ser656Phe LB/B rs2269548 - SH3BP2 P78314 VAR_013257 p.Arg415Pro LP/P rs121909149 Cherubism (CRBM) [MIM:118400] SH3BP2 P78314 VAR_013258 p.Arg415Gln LP/P rs121909149 Cherubism (CRBM) [MIM:118400] SH3BP2 P78314 VAR_013259 p.Pro418His LP/P rs121909146 Cherubism (CRBM) [MIM:118400] SH3BP2 P78314 VAR_013260 p.Pro418Leu LP/P rs121909146 Cherubism (CRBM) [MIM:118400] SH3BP2 P78314 VAR_013261 p.Pro418Arg LP/P rs121909146 Cherubism (CRBM) [MIM:118400] SH3BP2 P78314 VAR_013262 p.Gly420Glu LP/P rs28938171 Cherubism (CRBM) [MIM:118400] SH3BP2 P78314 VAR_013263 p.Gly420Arg LP/P rs28938170 Cherubism (CRBM) [MIM:118400] SH3BP4 Q9P0V3 VAR_030330 p.Met155Thr LB/B rs3731644 - SH3BP4 Q9P0V3 VAR_030331 p.Ala197Thr LB/B rs3731646 - SH3D21 A4FU49 VAR_043619 p.Ser217Ala LB/B rs12121759 - SH3D21 A4FU49 VAR_056763 p.Ala455Ser LB/B rs12121759 - SH3GLB2 Q9NR46 VAR_053078 p.Ala305Val LB/B rs17455482 - SH3GLB2 Q9NR46 VAR_053079 p.Pro319Leu LB/B rs17455475 - SH3KBP1 Q96B97 VAR_015667 p.Pro382Leu LB/B rs1310665369 - SH3PXD2A Q5TCZ1 VAR_030781 p.Lys659Gln LB/B rs11818820 - SH3PXD2A Q5TCZ1 VAR_030782 p.Arg1035Gln LB/B rs3781365 - SH3PXD2A Q5TCZ1 VAR_056993 p.Leu1073Pro LB/B rs12764700 - SH3PXD2B A1X283 VAR_046226 p.Tyr101Phe LB/B rs6880739 - SH3PXD2B A1X283 VAR_063764 p.Arg43Trp LP/P rs267607046 Frank-Ter Haar syndrome (FTHS) [MIM:249420] SH3RF1 Q7Z6J0 VAR_043342 p.Pro663Ser LB/B rs3811813 - SH3RF2 Q8TEC5 VAR_029788 p.Arg267Cys LB/B rs758037 - SH3RF2 Q8TEC5 VAR_029789 p.Trp592Arg LB/B rs2962525 - SH3RF2 Q8TEC5 VAR_029790 p.Val687Ile LB/B rs11435 - SH3RF2 Q8TEC5 VAR_029791 p.Gly710Ala LB/B rs1056149 - SH3RF2 Q8TEC5 VAR_052118 p.Phe16Ser LB/B rs34739859 - SH3RF2 Q8TEC5 VAR_052119 p.Phe174Val LB/B rs34942619 - SH3RF2 Q8TEC5 VAR_052120 p.Arg477Gln LB/B rs35165046 - SH3TC1 Q8TE82 VAR_021934 p.Arg785Cys LB/B rs1281149 - SH3TC1 Q8TE82 VAR_034127 p.Asp291Asn LB/B rs1281138 - SH3TC1 Q8TE82 VAR_034128 p.Leu437Pro LB/B rs1281145 - SH3TC1 Q8TE82 VAR_035866 p.Arg719His US rs201295499 A colorectal cancer sample SH3TC1 Q8TE82 VAR_035867 p.Ala1130Thr US rs1348201855 A colorectal cancer sample SH3TC2 Q8TF17 VAR_018267 p.Ala468Ser LB/B rs6875902 - SH3TC2 Q8TF17 VAR_018268 p.Arg529Gln LP/P rs863224454 Charcot-Marie-Tooth disease 4C (CMT4C) [MIM:601596] SH3TC2 Q8TF17 VAR_018269 p.Glu657Lys LP/P rs80338925 Charcot-Marie-Tooth disease 4C (CMT4C) [MIM:601596] SH3TC2 Q8TF17 VAR_018270 p.Arg658Cys LP/P rs80338926 Charcot-Marie-Tooth disease 4C (CMT4C) [MIM:601596] SH3TC2 Q8TF17 VAR_052622 p.Gly171Glu LB/B rs17722293 - SH3TC2 Q8TF17 VAR_052623 p.His696Arg LB/B rs17109261 - SH3TC2 Q8TF17 VAR_064421 p.Tyr169His LP/P rs80359890 Mononeuropathy of the median nerve mild (MNMN) [MIM:613353] SH3TC2 Q8TF17 VAR_087588 p.Gly1217Asp US rs758669363 Charcot-Marie-Tooth disease 4C (CMT4C) [MIM:601596] SHANK1 Q9Y566 VAR_022123 p.Val1504Ala LB/B rs3745521 - SHANK1 Q9Y566 VAR_036541 p.Ala569Asp US - A colorectal cancer sample SHANK1 Q9Y566 VAR_036542 p.Gly2026Arg US rs200040610 A colorectal cancer sample SHANK1 Q9Y566 VAR_055318 p.Ala6Val LB/B rs10423744 - SHANK2 Q9UPX8 VAR_085767 p.Ala1101Thr US rs868939163 - SHANK3 Q9BYB0 VAR_032804 p.Arg12Cys US rs1336089966 - SHANK3 Q9BYB0 VAR_032805 p.Ala198Gly LB/B rs1232069989 - SHANK3 Q9BYB0 VAR_032806 p.Ala224Thr LB/B rs766856815 - SHANK3 Q9BYB0 VAR_032807 p.Ile245Thr LB/B rs9616915 - SHANK3 Q9BYB0 VAR_032808 p.Arg300Cys US rs376862893 - SHANK3 Q9BYB0 VAR_065799 p.His493Gln LB/B - - SHANK3 Q9BYB0 VAR_065800 p.Arg536Trp LP/P rs387906933 Schizophrenia 15 (SCZD15) [MIM:613950] SHANK3 Q9BYB0 VAR_065801 p.Ala720Thr LB/B - - SHANK3 Q9BYB0 VAR_065802 p.Ser952Thr LB/B rs1340094921 - SHANK3 Q9BYB0 VAR_065803 p.Gly1010Val LB/B - - SHANK3 Q9BYB0 VAR_065804 p.Pro1134His LB/B rs769454362 - SHANK3 Q9BYB0 VAR_065805 p.Arg1298Lys LB/B rs201483867 - SHANK3 Q9BYB0 VAR_065806 p.Val1333Gly LB/B rs200087210 - SHANK3 Q9BYB0 VAR_065807 p.Ile1546Val LB/B rs1389307970 - SHANK3 Q9BYB0 VAR_065808 p.Pro1645Thr LB/B - - SHANK3 Q9BYB0 VAR_070259 p.Pro141Ala LP/P rs397514705 Phelan-McDermid syndrome (PHMDS) [MIM:606232] SHANK3 Q9BYB0 VAR_070260 p.Gln321Arg US - - SHANK3 Q9BYB0 VAR_070261 p.Ser341Leu US rs1314696433 - SHANK3 Q9BYB0 VAR_070262 p.Ala963Gly LB/B - - SHANK3 Q9BYB0 VAR_070263 p.Ala970Ser US rs530255181 - SHANK3 Q9BYB0 VAR_070264 p.Gly1011Val LB/B rs767058690 - SHANK3 Q9BYB0 VAR_070265 p.Ala1173Thr US rs139686326 - SHANK3 Q9BYB0 VAR_070266 p.Arg1231His LB/B rs750186589 - SHANK3 Q9BYB0 VAR_070267 p.Pro1263Leu US rs757572910 - SHANK3 Q9BYB0 VAR_070268 p.Leu1406Val US rs201973139 - SHANK3 Q9BYB0 VAR_070269 p.Met1443Thr US rs773395828 - SHANK3 Q9BYB0 VAR_070270 p.Ala1452Ser LP/P - Phelan-McDermid syndrome (PHMDS) [MIM:606232] SHANK3 Q9BYB0 VAR_070271 p.Gly1557Ser US rs1224063430 - SHANK3 Q9BYB0 VAR_070272 p.Ser1566Gly LB/B rs1481014682 - SHANK3 Q9BYB0 VAR_070273 p.Pro1654Thr US rs749130556 - SHARPIN Q9H0F6 VAR_047799 p.Ser282Thr LB/B rs11541804 - SHARPIN Q9H0F6 VAR_047800 p.Pro294Ser LB/B rs34674752 - SHARPIN Q9H0F6 VAR_047801 p.Pro311Arg LB/B rs35844464 - SHBG P04278 VAR_013129 p.Asp356Asn LB/B rs6259 - SHBG P04278 VAR_013946 p.Arg25His LB/B rs6260 - SHBG P04278 VAR_016182 p.Pro185Leu LB/B rs6258 - SHBG P04278 VAR_022002 p.Arg22His LB/B rs9282845 - SHC1 P29353 VAR_042428 p.Ala205Val LB/B rs8191981 - SHC1 P29353 VAR_051353 p.Met410Val LB/B rs8191979 - SHC4 Q6S5L8 VAR_043672 p.Asn52Asp LB/B rs17856991 - SHC4 Q6S5L8 VAR_043673 p.Lys244Glu LB/B rs17856990 - SHC4 Q6S5L8 VAR_043674 p.Gln400His LB/B rs16961728 - SHC4 Q6S5L8 VAR_043675 p.Asp447Gly LB/B rs17856992 - SHCBP1 Q8NEM2 VAR_051354 p.Met21Thr LB/B rs6598679 - SHCBP1 Q8NEM2 VAR_051355 p.Met60Arg LB/B rs11545690 - SHCBP1L Q9BZQ2 VAR_031836 p.Val491Met LB/B rs12138972 - SHD Q96IW2 VAR_027043 p.Gly138Ser LB/B rs2287714 - SHD Q96IW2 VAR_027044 p.Asn270Ser LB/B rs888930 - SHH Q15465 VAR_003619 p.Gly31Arg LP/P rs28936675 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_003620 p.Trp117Gly LP/P rs104894040 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_003621 p.Trp117Arg LP/P rs104894040 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009163 p.Asp88Val LP/P rs104894050 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009164 p.Gln100His LP/P rs587778792 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009165 p.Asn115Lys LP/P rs267607047 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009166 p.Glu188Gln LP/P rs587778799 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009167 p.Asp222Asn LP/P rs587778805 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009168 p.Val224Glu LP/P rs104894042 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009169 p.Ala226Thr LP/P rs104894043 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009170 p.Ser236Arg LP/P rs587778806 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009172 p.Gly290Asp LP/P rs104894047 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009174 p.Ala383Thr LP/P rs137853341 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009176 p.Pro424Ala LP/P rs104894048 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009177 p.Ser436Leu LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_017883 p.Ile111Phe LP/P rs104894049 Solitary median maxillary central incisor (SMMCI) [MIM:147250] SHH Q15465 VAR_023804 p.Arg6Thr LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_023806 p.Ala110Asp LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_023807 p.Thr150Arg LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_023809 p.Leu271Pro LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_023810 p.Val332Ala LP/P rs104894052 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_023810 p.Val332Ala LP/P rs104894052 Solitary median maxillary central incisor (SMMCI) [MIM:147250] SHH Q15465 VAR_023811 p.Pro347Gln LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_023812 p.Ile354Thr LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_023813 p.Arg381Pro LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_039888 p.Gly27Ala LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_039889 p.Ile111Asn LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_039890 p.His140Pro LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_039891 p.His140Gln LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_039892 p.Cys183Phe LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_039893 p.Thr267Ile LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_039894 p.Ala373Thr LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062592 p.Leu17Pro LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062593 p.Pro26Leu LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062594 p.Leu39Pro LP/P rs1428916820 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062595 p.Glu53Lys LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062596 p.Asp83Val LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062597 p.Ile84Phe LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062598 p.Cys102Arg LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062599 p.Cys102Tyr LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062600 p.Leu109Phe LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062601 p.Ala110Thr LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062602 p.Val124Met LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062603 p.Glu136Lys LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062604 p.Gly143Asp LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062605 p.Arg144Pro LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062606 p.Asp147Asn LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062607 p.Thr150Lys LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062608 p.Ser156Arg LP/P rs1554494372 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062609 p.Phe170Cys LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062610 p.Asp171His LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062611 p.Cys183Arg LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062612 p.Cys183Tyr LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062613 p.Ser184Leu LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062615 p.Gly196Glu LP/P rs752650571 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062616 p.Gly197Val LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062617 p.Cys198Phe LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062618 p.Cys198Ser LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062619 p.Leu218Pro LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062620 p.Gly231Val LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062621 p.Arg232Gly LP/P rs1347054935 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062622 p.Leu234Pro LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062623 p.Ser236Asn LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062624 p.Phe241Leu LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062625 p.Phe241Val LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062626 p.Ile255Asn LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062627 p.Ala275Glu LP/P rs556192490 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062628 p.Ser280Trp LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062629 p.Gly296Ala US rs955894039 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062630 p.Arg310Cys LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062631 p.Arg321Ser LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062632 p.Ala346Val LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062633 p.Pro347Leu LP/P rs886042458 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062634 p.Pro347Arg LP/P rs886042458 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062635 p.Ser362Leu LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062636 p.Cys363Tyr LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062637 p.Tyr364Cys LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062638 p.His374Arg LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062639 p.Ala376Asp LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062640 p.Phe377Ser LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062641 p.Leu382Pro LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062642 p.Ala391Thr US rs1131692264 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062646 p.Thr416Ala US rs1412744230 Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062647 p.Tyr435Asn LP/P - Holoprosencephaly 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062648 p.Gly456Arg US - Holoprosencephaly 3 (HPE3) [MIM:142945] SHISA3 A0PJX4 VAR_042687 p.Trp13Cys LB/B rs11733156 - SHISA4 Q96DD7 VAR_028811 p.Ile159Met LB/B rs2250377 - SHISA5 Q8N114 VAR_054031 p.Gly216Arg LB/B rs35750010 - SHISAL2B A6NKW6 VAR_053995 p.Ser5Arg LB/B rs16893053 - SHISAL2B A6NKW6 VAR_053996 p.Ala111Pro LB/B rs2305962 - SHKBP1 Q8TBC3 VAR_036714 p.Gln507Leu LB/B rs17855499 - SHLD1 Q8IYI0 VAR_032144 p.Ala23Val LB/B rs237422 - SHLD2 Q86V20 VAR_053997 p.Phe132Leu LB/B rs3129520 - SHLD2 Q86V20 VAR_053998 p.Ser550Cys LB/B rs11202365 - SHLD2 Q86V20 VAR_053999 p.Arg747His LB/B rs11816168 - SHMT1 P34896 VAR_022010 p.Leu474Phe LB/B rs1979277 - SHMT1 P34896 VAR_059795 p.Glu340Gln LB/B rs7215148 - SHMT2 P34897 VAR_085466 p.Pro157Ser US rs1426413125 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) [MIM:619121] SHMT2 P34897 VAR_085467 p.Thr186Arg US - Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) [MIM:619121] SHMT2 P34897 VAR_085468 p.Asn379Asp US rs2037432429 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) [MIM:619121] SHMT2 P34897 VAR_085469 p.Gly423Ser US rs751223752 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) [MIM:619121] SHMT2 P34897 VAR_085470 p.Gln435Pro US rs2037448764 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) [MIM:619121] SHMT2 P34897 VAR_085471 p.Pro499Ala LP/P rs2037465152 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) [MIM:619121] SHOC1 Q5VXU9 VAR_050829 p.Thr226Ser LB/B rs10981047 - SHOC1 Q5VXU9 VAR_050830 p.His416Arg LB/B rs7470491 - SHOC1 Q5VXU9 VAR_050831 p.Ile649Thr LB/B rs1322257 - SHOC1 Q5VXU9 VAR_050832 p.Met734Leu LB/B rs11791445 - SHOC1 Q5VXU9 VAR_050833 p.Arg788Lys LB/B rs7868266 - SHOC1 Q5VXU9 VAR_050834 p.Asn809Lys LB/B rs7036568 - SHOC1 Q5VXU9 VAR_050835 p.Tyr932Cys LB/B rs1407390 - SHOC1 Q5VXU9 VAR_050836 p.Leu968Pro LB/B rs6477845 - SHOC1 Q5VXU9 VAR_050837 p.Ile1162Thr LB/B rs1475110 - SHOC1 Q5VXU9 VAR_050838 p.Glu1174Gly LB/B rs7869279 - SHOC1 Q5VXU9 VAR_050839 p.Asn1380Lys LB/B rs1322254 - SHOC1 Q5VXU9 VAR_050840 p.Arg1425Cys LB/B rs10981009 - SHOC1 Q5VXU9 VAR_087418 p.Ala660Thr US - Spermatogenic failure 75 (SPGF75) [MIM:619949] SHOC1 Q5VXU9 VAR_087419 p.Arg1425His US - Spermatogenic failure 75 (SPGF75) [MIM:619949] SHOC2 Q9UQ13 VAR_060199 p.Ser2Gly LP/P rs267607048 Noonan syndrome-like disorder with loose anagen hair 1 (NSLH1) [MIM:607721] SHOC2 Q9UQ13 VAR_074030 p.Met173Ile LP/P rs730881020 Noonan syndrome-like disorder with loose anagen hair 1 (NSLH1) [MIM:607721] SHOX O15266 VAR_012346 p.Arg173Cys LP/P rs137852556 Leri-Weill dyschondrosteosis (LWD) [MIM:127300] SHOX O15266 VAR_019414 p.Leu132Val LP/P rs137852554 Leri-Weill dyschondrosteosis (LWD) [MIM:127300] SHOX O15266 VAR_019415 p.Arg153Leu LP/P rs137852555 Leri-Weill dyschondrosteosis (LWD) [MIM:127300] SHOX O15266 VAR_019416 p.Arg168Trp LP/P rs137852557 Langer mesomelic dysplasia (LMD) [MIM:249700] SHPK Q9UHJ6 VAR_042580 p.Glu215Lys LB/B rs150857 - SHPK Q9UHJ6 VAR_048591 p.Glu421Asp LB/B rs224496 - SHPK Q9UHJ6 VAR_048592 p.Leu434Met LB/B rs36125540 - SHPRH Q149N8 VAR_031857 p.Gln438Arg US rs1411096648 An ovarian cancer cell line SHPRH Q149N8 VAR_031858 p.Ser460Phe US - A melanoma cell line SHPRH Q149N8 VAR_031859 p.Asn1028Tyr US - A melanoma cell line SHPRH Q149N8 VAR_064750 p.Val1222Asp US - - SHQ1 Q6PI26 VAR_034962 p.Ser140Ile LB/B rs17855677 - SHQ1 Q6PI26 VAR_034963 p.Ser489Asn LB/B rs35178407 - SHQ1 Q6PI26 VAR_087400 p.Asp175Tyr LP/P - Dystonia 35, childhood-onset (DYT35) [MIM:619921] SHQ1 Q6PI26 VAR_087401 p.Glu292Lys LP/P - Neurodevelopmental disorder with dystonia and seizures (NEDDS) [MIM:619922] SHQ1 Q6PI26 VAR_087402 p.Arg335Cys US - Neurodevelopmental disorder with dystonia and seizures (NEDDS) [MIM:619922] SHQ1 Q6PI26 VAR_087403 p.Ala426Val US - Neurodevelopmental disorder with dystonia and seizures (NEDDS) [MIM:619922] SHROOM1 Q2M3G4 VAR_032061 p.Pro180Leu LB/B rs2292030 - SHROOM2 Q13796 VAR_024250 p.Leu1607Phe LB/B rs2073942 - SHROOM2 Q13796 VAR_036577 p.Asp1245His US rs1033602309 A breast cancer sample SHROOM2 Q13796 VAR_053896 p.Asp942Glu LB/B rs16985780 - SHROOM2 Q13796 VAR_053897 p.Ile1475Val LB/B rs12012202 - SHROOM3 Q8TF72 VAR_032062 p.Leu147His LB/B rs3821979 - SHROOM3 Q8TF72 VAR_032063 p.Gly279Ala LB/B rs344140 - SHROOM3 Q8TF72 VAR_032064 p.Pro469Ala LB/B rs344141 - SHROOM3 Q8TF72 VAR_032065 p.Pro1290Leu LB/B rs3733242 - SHROOM4 Q9ULL8 VAR_032257 p.Asp970Gly LB/B rs2281571 - SHROOM4 Q9ULL8 VAR_032258 p.Ser1089Leu US rs121434620 - SHROOM4 Q9ULL8 VAR_057770 p.Arg722His LB/B rs3761506 - SHROOM4 Q9ULL8 VAR_057771 p.Ile807Thr LB/B rs3761505 - SHROOM4 Q9ULL8 VAR_074639 p.Leu1367Phe LB/B rs28362302 - SHROOM4 Q9ULL8 VAR_075207 p.Pro627Ser LB/B rs150861758 - SHROOM4 Q9ULL8 VAR_079036 p.Arg146Trp US rs189694750 - SI P14410 VAR_007854 p.Gln1098Pro LP/P rs121912611 Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025367 p.Val15Phe LB/B rs9290264 - SI P14410 VAR_025368 p.Gln117Arg LP/P rs121912612 Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025369 p.Thr231Ala LB/B rs9283633 - SI P14410 VAR_025370 p.Leu341Pro LP/P rs267607049 Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025371 p.Val577Gly LP/P rs121912615 Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025372 p.Ser594Pro LP/P rs765433197 Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025373 p.Leu620Pro LP/P rs121912613 Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025374 p.Thr694Pro LP/P - Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025375 p.Gly1073Asp LP/P rs121912616 Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025376 p.Cys1229Tyr LP/P rs121912614 Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025377 p.Arg1367Gly LP/P rs143388292 Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025378 p.Met1523Ile LB/B rs4855271 - SI P14410 VAR_025379 p.Phe1745Cys LP/P rs79717168 Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_034522 p.Thr1802Ser LB/B rs9917722 - SIAE Q9HAT2 VAR_051356 p.Lys71Arg LB/B rs12282107 - SIAE Q9HAT2 VAR_051357 p.Ala467Val LB/B rs7941523 - SIAE Q9HAT2 VAR_064438 p.Ala3Gly LB/B rs144571829 - SIAE Q9HAT2 VAR_064439 p.Asn33Ser LB/B rs762824510 - SIAE Q9HAT2 VAR_064440 p.Arg62His LB/B rs377634657 - SIAE Q9HAT2 VAR_064441 p.Gly64Ser LB/B rs76655561 - SIAE Q9HAT2 VAR_064442 p.Met89Val LB/B rs78778622 - SIAE Q9HAT2 VAR_064443 p.Gln161Lys LB/B rs200739060 - SIAE Q9HAT2 VAR_064444 p.Cys196Phe LP/P rs143070599 Autoimmune disease 6 (AIS6) [MIM:613551] SIAE Q9HAT2 VAR_064445 p.Gly212Arg LP/P rs149466359 Autoimmune disease 6 (AIS6) [MIM:613551] SIAE Q9HAT2 VAR_064446 p.Arg230Trp LP/P rs200862001 Autoimmune disease 6 (AIS6) [MIM:613551] SIAE Q9HAT2 VAR_064447 p.Cys266Gly LP/P rs746914032 Autoimmune disease 6 (AIS6) [MIM:613551] SIAE Q9HAT2 VAR_064448 p.Gln309Pro LP/P rs757586703 Autoimmune disease 6 (AIS6) [MIM:613551] SIAE Q9HAT2 VAR_064449 p.Thr312Met LB/B rs144510878 - SIAE Q9HAT2 VAR_064450 p.Arg314His LB/B rs147649509 - SIAE Q9HAT2 VAR_064451 p.Tyr349Cys LP/P rs749579541 Autoimmune disease 6 (AIS6) [MIM:613551] SIAE Q9HAT2 VAR_064452 p.Arg393His LP/P rs552372846 Autoimmune disease 6 (AIS6) [MIM:613551] SIAE Q9HAT2 VAR_064453 p.Lys400Asn LB/B rs766047951 - SIAE Q9HAT2 VAR_064454 p.Phe404Ser LP/P rs201877149 Autoimmune disease 6 (AIS6) [MIM:613551] SIAE Q9HAT2 VAR_064455 p.His447Arg LB/B rs147161431 - SIAE Q9HAT2 VAR_064456 p.Met456Ile US - - SIAE Q9HAT2 VAR_064457 p.Gln462Arg LB/B rs143668140 - SIAE Q9HAT2 VAR_064458 p.Arg479Cys LP/P rs376857712 Autoimmune disease 6 (AIS6) [MIM:613551] SIAH1 Q8IUQ4 VAR_085780 p.Cys41Gly LP/P - Buratti-Harel syndrome (BURHAS) [MIM:619314] SIAH1 Q8IUQ4 VAR_085781 p.Pro50Leu LP/P - Buratti-Harel syndrome (BURHAS) [MIM:619314] SIAH1 Q8IUQ4 VAR_085782 p.Cys128Phe LP/P - Buratti-Harel syndrome (BURHAS) [MIM:619314] SIAH1 Q8IUQ4 VAR_085783 p.Thr168Ala LP/P - Buratti-Harel syndrome (BURHAS) [MIM:619314] SIAH1 Q8IUQ4 VAR_085784 p.Gly174Arg LP/P - Buratti-Harel syndrome (BURHAS) [MIM:619314] SIDT1 Q9NXL6 VAR_057184 p.Val78Met LB/B rs2271496 - SIDT1 Q9NXL6 VAR_057185 p.Thr363Ile LB/B rs33990195 - SIDT1 Q9NXL6 VAR_061793 p.Gly3Ser LB/B rs9879313 - SIDT2 Q8NBJ9 VAR_034493 p.Thr631Met LB/B rs12285035 - SIDT2 Q8NBJ9 VAR_034494 p.Val636Ile LB/B rs17120425 - SIGIRR Q6IA17 VAR_058702 p.Gln312Arg LB/B rs3210908 - SIGIRR Q6IA17 VAR_074164 p.Ser80Tyr LB/B rs117739035 - SIGIRR Q6IA17 VAR_074165 p.Pro115Arg LB/B rs111819059 - SIGLEC1 Q9BZZ2 VAR_014136 p.Lys239Arg LB/B rs625372 - SIGLEC1 Q9BZZ2 VAR_014137 p.His919Pro LB/B rs709012 - SIGLEC1 Q9BZZ2 VAR_014138 p.Ala1519Pro LB/B rs2853217 - SIGLEC1 Q9BZZ2 VAR_021926 p.Ala974Val LB/B rs3746638 - SIGLEC1 Q9BZZ2 VAR_021927 p.Ser1335Tyr LB/B rs3746636 - SIGLEC1 Q9BZZ2 VAR_024502 p.Val221Met LB/B rs6037651 - SIGLEC1 Q9BZZ2 VAR_049943 p.Val141Leu LB/B rs35953127 - SIGLEC1 Q9BZZ2 VAR_049944 p.Arg464His LB/B rs34924243 - SIGLEC1 Q9BZZ2 VAR_049945 p.Arg1487Trp LB/B rs16988873 - SIGLEC10 Q96LC7 VAR_019955 p.Ala226Val LB/B rs9304711 - SIGLEC10 Q96LC7 VAR_019956 p.Arg520Ser LB/B rs1833785 - SIGLEC12 Q96PQ1 VAR_014259 p.Pro81Thr LB/B rs2034891 - SIGLEC12 Q96PQ1 VAR_020088 p.Thr478Met LB/B rs3829658 - SIGLEC12 Q96PQ1 VAR_020089 p.Tyr494Ser LB/B rs3752135 - SIGLEC12 Q96PQ1 VAR_024501 p.His217Gln LB/B rs6509544 - SIGLEC12 Q96PQ1 VAR_049931 p.Pro81His LB/B rs2034891 - SIGLEC12 Q96PQ1 VAR_049932 p.Ala82Val LB/B rs3810110 - SIGLEC12 Q96PQ1 VAR_049933 p.Gly218Arg LB/B rs6509544 - SIGLEC12 Q96PQ1 VAR_049934 p.His398Tyr LB/B rs11668530 - SIGLEC12 Q96PQ1 VAR_049935 p.Tyr586Cys LB/B rs7245807 - SIGLEC12 Q96PQ1 VAR_061327 p.Pro546Gln LB/B rs57043266 - SIGLEC15 Q6ZMC9 VAR_033174 p.Phe273Leu LB/B rs2919643 - SIGLEC5 O15389 VAR_014249 p.Val72Ala LB/B rs1973019 - SIGLEC5 O15389 VAR_014250 p.Met215Val LB/B rs1807124 - SIGLEC5 O15389 VAR_014251 p.Phe322Ser LB/B rs2278831 - SIGLEC5 O15389 VAR_020087 p.Pro499Ala LB/B rs3829655 - SIGLEC5 O15389 VAR_049929 p.Arg358Trp LB/B rs8108074 - SIGLEC6 O43699 VAR_014252 p.Leu57Val LB/B rs2305773 - SIGLEC6 O43699 VAR_014253 p.Leu262Phe LB/B rs2005199 - SIGLEC7 Q9Y286 VAR_035523 p.Leu215Pro US - A colorectal cancer sample SIGLEC8 Q9NYZ4 VAR_021487 p.Ser170Pro LB/B rs10409962 - SIGLEC8 Q9NYZ4 VAR_049930 p.Arg388Gly LB/B rs3829659 - SIGLEC8 Q9NYZ4 VAR_064751 p.Val282Leu US - - SIGLEC9 Q9Y336 VAR_014254 p.Lys100Glu LB/B rs2075803 - SIGLEC9 Q9Y336 VAR_014255 p.Ser125Asn LB/B rs200658 - SIGLEC9 Q9Y336 VAR_014256 p.Asn147Lys LB/B rs273687 - SIGLEC9 Q9Y336 VAR_014257 p.Ala315Glu LB/B rs2258983 - SIGLEC9 Q9Y336 VAR_014258 p.Ala316Asp LB/B rs273688 - SIGLEC9 Q9Y336 VAR_033621 p.Lys131Gln LB/B rs16988910 - SIGLEC9 Q9Y336 VAR_033622 p.Val349Ala LB/B rs273690 - SIGMAR1 Q99720 VAR_029750 p.Gln2Pro LB/B rs1800866 - SIGMAR1 Q99720 VAR_029751 p.Arg211Gln LB/B rs192644838 - SIGMAR1 Q99720 VAR_067311 p.Glu102Gln LP/P rs387906829 Amyotrophic lateral sclerosis 16, juvenile (ALS16) [MIM:614373] SIGMAR1 Q99720 VAR_078816 p.Leu65Gln US rs140376902 Neuronopathy, distal hereditary motor, autosomal recessive 2 (HMNR2) [MIM:605726] SIK1 P57059 VAR_021255 p.Ala615Val LB/B rs430554 - SIK1 P57059 VAR_033910 p.Arg430Trp LB/B rs34164089 - SIK1 P57059 VAR_041087 p.Gly15Ser LB/B rs3746951 - SIK1 P57059 VAR_041088 p.Asp142Asn LB/B rs45491503 - SIK1 P57059 VAR_041089 p.Gly211Ser US - A glioblastoma multiforme sample SIK1 P57059 VAR_041090 p.Gly469Asp US - A metastatic melanoma sample SIK1 P57059 VAR_041091 p.Pro696Leu LB/B rs56386767 - SIK1 P57059 VAR_041092 p.Ala725Val LB/B rs35596465 - SIK1 P57059 VAR_073701 p.Pro287Thr LP/P rs786205159 Developmental and epileptic encephalopathy 30 (DEE30) [MIM:616341] SIK1 P57059 VAR_073702 p.Ser411Cys LP/P - Developmental and epileptic encephalopathy 30 (DEE30) [MIM:616341] SIK1 P57059 VAR_073703 p.Gly636Ser LP/P rs786205163 Developmental and epileptic encephalopathy 30 (DEE30) [MIM:616341] SIK2 Q9H0K1 VAR_041093 p.Thr458Ile LB/B rs35789057 - SIK2 Q9H0K1 VAR_041094 p.Arg809Gln LB/B rs34223841 - SIK2 Q9H0K1 VAR_041095 p.Pro825Leu LB/B rs55889697 - SIK2 Q9H0K1 VAR_051667 p.Pro828Leu LB/B rs45520245 - SIK2 Q9H0K1 VAR_051668 p.Pro829Ser LB/B rs45586732 - SIK3 Q9Y2K2 VAR_035634 p.His389Leu US rs376144593 A breast cancer sample SIK3 Q9Y2K2 VAR_035635 p.Ala1161Val US - A breast cancer sample SIK3 Q9Y2K2 VAR_051662 p.Asp1098Glu LB/B rs11216163 - SIK3 Q9Y2K2 VAR_051663 p.Pro1136Arg LB/B rs12225230 - SIK3 Q9Y2K2 VAR_081542 p.Arg187Cys LP/P rs1565460853 Spondyloepimetaphyseal dysplasia, Krakow type (SEMDK) [MIM:618162] SIL1 Q9H173 VAR_034495 p.Gln80Arg LB/B rs35581768 - SIM1 P81133 VAR_034496 p.Pro352Thr LB/B rs3734354 - SIM1 P81133 VAR_034497 p.Ala371Val LB/B rs3734355 - SIM1 P81133 VAR_049549 p.Leu175Phe LB/B rs438766 - SIM2 Q14190 VAR_024281 p.Leu483Met LB/B rs2073601 - SIMC1 Q8NDZ2 VAR_027568 p.Ser221Phe LB/B rs2001605 - SIMC1 Q8NDZ2 VAR_027569 p.Lys463Arg LB/B rs17857141 - SIMC1 Q8NDZ2 VAR_027570 p.His772Arg LB/B rs17853733 - SIMC1 Q8NDZ2 VAR_059603 p.Ser636Phe LB/B rs2001605 - SIN3A Q96ST3 VAR_062129 p.Met1156Leu LB/B rs60213317 - SINHCAF Q9NP50 VAR_049027 p.Arg117His LB/B rs2304459 - SIPA1 Q96FS4 VAR_049148 p.Arg80Gln LB/B rs35045265 - SIPA1 Q96FS4 VAR_049149 p.Ala106Ser LB/B rs3741379 - SIPA1 Q96FS4 VAR_049150 p.Glu174Asp LB/B rs34912782 - SIPA1 Q96FS4 VAR_049151 p.Ser182Phe LB/B rs3741378 - SIPA1L1 O43166 VAR_035549 p.Glu996Asp US - A breast cancer sample SIPA1L1 O43166 VAR_049152 p.Pro56Thr LB/B rs12884638 - SIPA1L2 Q9P2F8 VAR_049153 p.Thr49Ala LB/B rs16857502 - SIPA1L2 Q9P2F8 VAR_049154 p.Thr1322Ala LB/B rs2275307 - SIPA1L2 Q9P2F8 VAR_049155 p.Ser1403Leu LB/B rs1547742 - SIPA1L2 Q9P2F8 VAR_049156 p.Gly1639Ser LB/B rs2275303 - SIPA1L2 Q9P2F8 VAR_061183 p.Met1424Leu LB/B rs3210731 - SIPA1L3 O60292 VAR_025476 p.Gly1371Ser LB/B rs2304133 - SIPA1L3 O60292 VAR_025477 p.Pro1450Ala LB/B rs3745945 - SIPA1L3 O60292 VAR_075045 p.Asp148Tyr US rs138476311 - SIRPA P78324 VAR_015463 p.Ala20Pro LB/B - - SIRPA P78324 VAR_015464 p.Asp40Glu LB/B rs1349896458 - SIRPA P78324 VAR_015465 p.Leu44Ser LB/B rs143735290 - SIRPA P78324 VAR_015466 p.Thr50Ser LB/B rs17855609 - SIRPA P78324 VAR_015468 p.Thr52Ile LB/B rs17855610 - SIRPA P78324 VAR_015470 p.Arg54His LB/B rs17855611 - SIRPA P78324 VAR_015471 p.Ala57Val LB/B rs17855612 - SIRPA P78324 VAR_015472 p.Ile61Asn LB/B rs1371837011 - SIRPA P78324 VAR_015473 p.Trp68Arg LB/B - - SIRPA P78324 VAR_015474 p.Gly75Ala LB/B rs1057114 - SIRPA P78324 VAR_015475 p.Glu77Lys LB/B rs1182420620 - SIRPA P78324 VAR_015477 p.Asn81His LB/B - - SIRPA P78324 VAR_015478 p.Asp95Glu LB/B rs138283486 - SIRPA P78324 VAR_015479 p.Leu96Ser LB/B - - SIRPA P78324 VAR_015480 p.Asn100Glu LB/B rs386811662 - SIRPA P78324 VAR_015483 p.Arg107Ser LB/B rs17855615 - SIRPA P78324 VAR_015484 p.Gly109Ser LB/B rs17855616 - SIRPA P78324 VAR_015485 p.Arg125Gln LB/B rs767136065 - SIRPA P78324 VAR_015486 p.Val132Thr LB/B rs386811663 - SIRPA P78324 VAR_015487 p.Phe134Leu LB/B - - SIRPA P78324 VAR_015488 p.Gln163Asp US - - SIRPA P78324 VAR_015489 p.Thr181Ser LB/B - - SIRPA P78324 VAR_015490 p.Glu190Gln LB/B - - SIRPA P78324 VAR_015492 p.Lys214Asn LB/B - - SIRPA P78324 VAR_015493 p.Glu220Gly LB/B - - SIRPA P78324 VAR_015494 p.Val222Ile LB/B rs143385810 - SIRPA P78324 VAR_015495 p.Gln236Arg LB/B - - SIRPA P78324 VAR_015497 p.Arg251Gln LB/B rs377448893 - SIRPA P78324 VAR_015498 p.Gln261Leu LB/B - - SIRPA P78324 VAR_015499 p.Val263Met LB/B rs754806675 - SIRPA P78324 VAR_015500 p.Val271Ile LB/B - - SIRPA P78324 VAR_015501 p.Arg276Thr LB/B - - SIRPA P78324 VAR_015502 p.Val302Leu LB/B rs2422666 - SIRPA P78324 VAR_015503 p.Pro339Ser LB/B - - SIRPA P78324 VAR_015504 p.Pro353Leu LB/B rs138876160 - SIRPA P78324 VAR_015505 p.Gly357Ser LB/B rs1200233096 - SIRPA P78324 VAR_015506 p.Ser367Pro LB/B - - SIRPA P78324 VAR_015507 p.Arg370Gln LB/B rs778218860 - SIRPA P78324 VAR_015508 p.Ala389Glu LB/B - - SIRPA P78324 VAR_015509 p.Gln443Arg LB/B - - SIRPA P78324 VAR_015510 p.Pro460Leu LB/B rs1168490568 - SIRPA P78324 VAR_015511 p.Ala486Leu US - - SIRPA P78324 VAR_015512 p.Pro491Leu LB/B rs367629199 - SIRPB1 O00241 VAR_028789 p.Arg23Gly LB/B rs1535882 - SIRPB1 O00241 VAR_028790 p.Arg53His LB/B rs2746603 - SIRPB1 O00241 VAR_028791 p.Ile229Met LB/B rs2253427 - SIRPB1 O00241 VAR_028792 p.Ala363Pro LB/B rs2243603 - SIRPB1 Q5TFQ8 VAR_056077 p.Arg23Gly LB/B rs1535882 - SIRPB1 Q5TFQ8 VAR_059411 p.Thr51Ile LB/B rs1135196 - SIRPB2 Q5JXA9 VAR_043814 p.Gly153Glu LB/B rs6033876 - SIRPB2 Q5JXA9 VAR_043815 p.Glu215Ala LB/B rs6042507 - SIRPB2 Q5JXA9 VAR_043816 p.Leu304Phe LB/B rs8119290 - SIRPD Q9H106 VAR_056078 p.Asn55Asp LB/B rs2249317 - SIRPG Q9P1W8 VAR_049936 p.Val263Ala LB/B rs6043409 - SIRPG Q9P1W8 VAR_049937 p.Ser286Leu LB/B rs6034239 - SIRT1 Q96EB6 VAR_025148 p.Asp3Glu LB/B rs35671182 - SIRT1 Q96EB6 VAR_051976 p.Val484Asp LB/B rs1063111 - SIRT3 Q9NTG7 VAR_051977 p.Arg80Trp LB/B rs28365927 - SIRT3 Q9NTG7 VAR_051978 p.Val208Ile LB/B rs11246020 - SIRT3 Q9NTG7 VAR_051979 p.Gly369Ser LB/B rs3020901 - SIRT5 Q9NXA8 VAR_029042 p.Phe285Leu LB/B rs9464003 - SIRT5 Q9NXA8 VAR_051980 p.Glu305Gly LB/B rs34162626 - SIRT6 Q8N6T7 VAR_017154 p.Ser46Asn LB/B rs352493 - SIRT6 Q8N6T7 VAR_086083 p.Asp25Asn LB/B rs752121167 - SIRT6 Q8N6T7 VAR_086084 p.Glu36Val US - - SIRT6 Q8N6T7 VAR_086085 p.Asp63His LB/B rs779174928 - SIRT6 Q8N6T7 VAR_086086 p.Asp63Tyr US - - SIRT6 Q8N6T7 VAR_086087 p.Ala89Ser US - - SIRT6 Q8N6T7 VAR_086088 p.Asp116Asn LB/B rs964309225 - SIRT6 Q8N6T7 VAR_086090 p.Thr263Pro LB/B rs1259485520 - SIRT6 Q8N6T7 VAR_086091 p.Pro274Leu US - - SIX1 Q15475 VAR_031024 p.Arg110Trp LP/P rs80356459 Branchiootic syndrome 3 (BOS3) [MIM:608389] SIX1 Q15475 VAR_031025 p.Tyr129Cys LP/P rs104894478 Branchiootic syndrome 3 (BOS3) [MIM:608389] SIX1 Q15475 VAR_064948 p.Val17Glu LP/P rs397515562 Branchiootic syndrome 3 (BOS3) [MIM:608389] SIX1 Q15475 VAR_064949 p.His73Pro LP/P - Branchiootic syndrome 3 (BOS3) [MIM:608389] SIX1 Q15475 VAR_064950 p.Val106Gly LP/P rs397515560 Branchiootic syndrome 3 (BOS3) [MIM:608389] SIX1 Q15475 VAR_064951 p.Arg110Gln LP/P rs1064794308 Branchiootic syndrome 3 (BOS3) [MIM:608389] SIX1 Q15475 VAR_064952 p.Arg112Cys LP/P rs397515561 Branchiootic syndrome 3 (BOS3) [MIM:608389] SIX1 Q15475 VAR_064953 p.Trp122Arg LP/P rs121909770 Branchiootic syndrome 3 (BOS3) [MIM:608389] SIX1 Q15475 VAR_064954 p.Pro249Leu US rs368974927 - SIX1 Q15475 VAR_067446 p.Arg99Cys LB/B rs17850414 - SIX2 Q9NPC8 VAR_071207 p.Leu43Phe LB/B rs142188105 - SIX2 Q9NPC8 VAR_071208 p.Pro241Leu LB/B rs147806994 - SIX2 Q9NPC8 VAR_071209 p.Asp276Asn LB/B rs201675842 - SIX3 O95343 VAR_003771 p.Leu226Val LP/P rs121917878 Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_003772 p.Val250Ala LP/P rs121917880 Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_003773 p.Arg257Pro LP/P rs121917879 Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_023797 p.Val92Gly LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_023798 p.Ile105Val LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_023799 p.His173Pro LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_023800 p.Thr202Ile LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_023801 p.Pro231Arg LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_023802 p.Arg257Trp LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_038418 p.Gly69Asp LP/P rs121917881 Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071335 p.Gly37Cys LP/P rs199823175 Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071335 p.Gly37Cys LP/P rs199823175 Schizencephaly (SCHZC) [MIM:269160] SIX3 O95343 VAR_071336 p.Met79Val LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071337 p.Ala93Asp LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071338 p.Trp113Cys LP/P rs137853021 Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071339 p.Ser114Leu LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071340 p.Val138Asp LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071342 p.Phe157Ile LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071343 p.Ala167Ser LP/P rs387906868 Schizencephaly (SCHZC) [MIM:269160] SIX3 O95343 VAR_071344 p.Ala172Val LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071345 p.Tyr174His LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071346 p.Phe213Val LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071347 p.Arg218Pro LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071348 p.Arg218Trp LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071349 p.Gln227Pro LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071350 p.Gly244Cys LP/P rs989286015 Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071351 p.Phe254Leu LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071352 p.Arg257Gly LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071353 p.Arg258Leu LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071354 p.Arg262His LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071355 p.Arg269Met LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071356 p.Arg269Ser LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071357 p.Arg269Thr LP/P - Holoprosencephaly 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_071358 p.Pro297Leu LP/P rs780942050 Holoprosencephaly 2 (HPE2) [MIM:157170] SIX4 Q9UIU6 VAR_036441 p.Glu23Gln US - A breast cancer sample SIX4 Q9UIU6 VAR_036442 p.Gly446Asp US rs750515774 A breast cancer sample SIX4 Q9UIU6 VAR_036443 p.Asp780Glu US rs1264571513 A breast cancer sample SIX4 Q9UIU6 VAR_058281 p.His605Pro LB/B rs3742636 - SIX5 Q8N196 VAR_032941 p.Ala158Thr LP/P rs80356461 Branchiootorenal syndrome 2 (BOR2) [MIM:610896] SIX5 Q8N196 VAR_032942 p.Ala296Thr LP/P rs80356462 Branchiootorenal syndrome 2 (BOR2) [MIM:610896] SIX5 Q8N196 VAR_032943 p.Gly365Arg LP/P rs80356463 Branchiootorenal syndrome 2 (BOR2) [MIM:610896] SIX5 Q8N196 VAR_032944 p.Thr552Met LP/P rs80356464 Branchiootorenal syndrome 2 (BOR2) [MIM:610896] SIX5 Q8N196 VAR_032945 p.Leu556Val LB/B rs2014377 - SIX5 Q8N196 VAR_032946 p.Pro635Ser LB/B rs2014576 - SIX5 Q8N196 VAR_032947 p.Val693Met LB/B rs2341097 - SIX6 O95475 VAR_026241 p.Thr165Ala US rs104894480 - SIX6 O95475 VAR_031631 p.His141Asn LB/B rs33912345 - SIX6OS1 Q8N1H7 VAR_056983 p.Tyr125Cys LB/B rs1956551 - SIX6OS1 Q8N1H7 VAR_056984 p.Ser309Leu LB/B rs1033734 - SIX6OS1 Q8N1H7 VAR_059715 p.Val404Ile LB/B rs11625921 - SKA1 Q96BD8 VAR_030091 p.Val91Ile LB/B rs6507992 - SKA3 Q8IX90 VAR_023113 p.Thr254Ala LB/B rs17345690 - SKA3 Q8IX90 VAR_057831 p.Val58Ile LB/B rs11546983 - SKA3 Q8IX90 VAR_057832 p.Asp335Glu LB/B rs17279819 - SKAP1 Q86WV1 VAR_029811 p.Gly161Ser LB/B rs2278868 - SKAP1 Q86WV1 VAR_035343 p.Ser242Gly LB/B rs35288886 - SKAP2 O75563 VAR_029812 p.Ala202Ser LB/B rs1129771 - SKAP2 O75563 VAR_029813 p.Ser253Thr LB/B rs17154402 - SKI P12755 VAR_071170 p.Leu21Arg LP/P rs869312902 Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] SKI P12755 VAR_071171 p.Ser31Leu LP/P - Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] SKI P12755 VAR_071172 p.Leu32Pro LP/P - Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] SKI P12755 VAR_071173 p.Leu32Val LP/P rs387907304 Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] SKI P12755 VAR_071174 p.Gly34Cys LP/P rs387907306 Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] SKI P12755 VAR_071175 p.Gly34Asp LP/P rs387907305 Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] SKI P12755 VAR_071176 p.Gly34Ser LP/P rs387907306 Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] SKI P12755 VAR_071177 p.Gly34Val LP/P rs387907305 Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] SKI P12755 VAR_071178 p.Pro35Gln LP/P rs397514589 Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] SKI P12755 VAR_071179 p.Pro35Ser LP/P rs397514590 Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] SKI P12755 VAR_071182 p.Gly116Glu LP/P rs387907303 Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] SKI P12755 VAR_071183 p.Gly117Arg LP/P rs869312901 Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] SKI P12755 VAR_071659 p.Ser28Thr LP/P - Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] SKI P12755 VAR_071660 p.Gly34Ala LP/P - Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] SKIC2 Q15477 VAR_035944 p.Leu183Val US - A breast cancer sample SKIC2 Q15477 VAR_035945 p.Met765Ile US rs557829269 A colorectal cancer sample SKIC2 Q15477 VAR_055888 p.Arg324Trp LB/B rs36038685 - SKIC2 Q15477 VAR_055889 p.Asp887Asn LB/B rs3911893 - SKIC2 Q15477 VAR_055890 p.Val917Met LB/B rs106287 - SKIC2 Q15477 VAR_055891 p.Ala1071Val LB/B rs449643 - SKIC2 Q15477 VAR_060379 p.Gln151Arg LB/B rs438999 - SKIC2 Q15477 VAR_060380 p.Met214Leu LB/B rs437179 - SKIC2 Q15477 VAR_060381 p.Gly1153Arg LB/B rs2734329 - SKIC2 Q15477 VAR_060382 p.Val1238Gly LB/B rs2746400 - SKIC2 Q15477 VAR_067721 p.Val341Gly LP/P rs281875237 Trichohepatoenteric syndrome 2 (THES2) [MIM:614602] SKIC3 Q6PGP7 VAR_027705 p.Leu437Val LB/B rs17084873 - SKIC3 Q6PGP7 VAR_027706 p.Arg1296Ser LB/B rs2303650 - SKIC3 Q6PGP7 VAR_065298 p.Ala1077Asp US - - SKIC3 Q6PGP7 VAR_065299 p.Pro1270Ala LB/B rs146627706 - SKIC3 Q6PGP7 VAR_065300 p.Leu1485Arg US - - SKIC3 Q6PGP7 VAR_067957 p.Gly251Arg LP/P rs763816083 Trichohepatoenteric syndrome 1 (THES1) [MIM:222470] SKIC3 Q6PGP7 VAR_067958 p.Asp1283Asn LP/P - Trichohepatoenteric syndrome 1 (THES1) [MIM:222470] SKIC3 Q6PGP7 VAR_067959 p.Leu1505Ser LP/P rs376720108 Trichohepatoenteric syndrome 1 (THES1) [MIM:222470] SKIL P12757 VAR_011677 p.Ala38Val LB/B rs3772173 - SKOR1 P84550 VAR_079272 p.Lys73Gln LB/B rs776369126 - SKOR2 Q2VWA4 VAR_043438 p.Phe947Cys LB/B rs7235231 - SKP2 Q13309 VAR_016984 p.Pro85Leu LB/B rs3913486 - SKP2 Q13309 VAR_016985 p.Leu87Ile LB/B rs3913487 - SLA Q13239 VAR_061706 p.Pro15Thr LB/B rs4486183 - SLA2 Q9H6Q3 VAR_051361 p.Val210Met LB/B rs34834764 - SLAMF1 Q13291 VAR_021924 p.Phe11Leu LB/B rs2295612 - SLAMF1 Q13291 VAR_021925 p.Pro333Thr LB/B rs3796504 - SLAMF1 Q13291 VAR_035524 p.Leu81Phe US rs1373814964 A breast cancer sample SLAMF7 Q9NQ25 VAR_049938 p.His175Tyr LB/B rs35325048 - SLAMF7 Q9NQ25 VAR_049939 p.Thr302Met LB/B rs2295617 - SLAMF8 Q9P0V8 VAR_049940 p.Pro5Thr LB/B rs2494514 - SLAMF8 Q9P0V8 VAR_049941 p.Gly99Ser LB/B rs34687326 - SLAMF8 Q9P0V8 VAR_049942 p.Val129Met LB/B rs3795331 - SLAMF9 Q96A28 VAR_023580 p.Ile127Leu LB/B rs2789417 - SLAMF9 Q96A28 VAR_032812 p.Val86Met LB/B rs34540580 - SLAMF9 Q96A28 VAR_032813 p.Asp164His LB/B rs35438196 - SLAMF9 Q96A28 VAR_032814 p.Glu181Lys LB/B rs34884993 - SLC10A1 Q14973 VAR_022113 p.Ser267Phe LP/P rs2296651 Hypercholanemia, familial, 2 (FHCA2) [MIM:619256] SLC10A1 Q14973 VAR_085560 p.Arg21Cys LB/B rs200758433 - SLC10A1 Q14973 VAR_085561 p.Met39Thr LB/B rs536458730 - SLC10A1 Q14973 VAR_085562 p.Ser41Leu LB/B rs111885789 - SLC10A1 Q14973 VAR_085563 p.Ala64Thr LB/B rs202018997 - SLC10A1 Q14973 VAR_085564 p.Pro73Thr LB/B rs763683476 - SLC10A1 Q14973 VAR_085565 p.Ile88Thr LP/P rs148467625 Hypercholanemia, familial, 2 (FHCA2) [MIM:619256] SLC10A1 Q14973 VAR_085566 p.Leu138Pro LB/B rs543063679 - SLC10A1 Q14973 VAR_085567 p.Ile159Met LB/B rs144006534 - SLC10A1 Q14973 VAR_085568 p.Arg180Gln LB/B rs571796903 - SLC10A1 Q14973 VAR_085569 p.Gly190Glu LB/B rs553948182 - SLC10A1 Q14973 VAR_085570 p.Ser199Arg LP/P rs746174545 Hypercholanemia, familial, 2 (FHCA2) [MIM:619256] SLC10A1 Q14973 VAR_085571 p.Ile223Thr LB/B rs61745930 - SLC10A1 Q14973 VAR_085572 p.Ile232Thr LB/B rs190268737 - SLC10A1 Q14973 VAR_085573 p.Phe234Leu LB/B rs139931299 - SLC10A1 Q14973 VAR_085574 p.Ser241Phe LB/B rs150579813 - SLC10A1 Q14973 VAR_085575 p.Arg249Trp LB/B rs76966244 - SLC10A1 Q14973 VAR_085576 p.Arg252Cys LB/B rs141269120 - SLC10A1 Q14973 VAR_085577 p.Arg252His LP/P rs147226818 Hypercholanemia, familial, 2 (FHCA2) [MIM:619256] SLC10A1 Q14973 VAR_085578 p.Arg252Ser LB/B rs141269120 - SLC10A1 Q14973 VAR_085579 p.Thr258Ser LB/B rs541801766 - SLC10A1 Q14973 VAR_085580 p.Ile279Thr LB/B rs72547507 - SLC10A1 Q14973 VAR_085581 p.Gln293Glu LB/B rs189313778 - SLC10A1 Q14973 VAR_085582 p.Lys314Glu LB/B rs72547506 - SLC10A2 Q12908 VAR_004613 p.Ser171Ala LB/B rs188096 - SLC10A2 Q12908 VAR_004614 p.Leu243Pro LP/P rs121917848 Bile acid malabsorption, primary, 1 (PBAM1) [MIM:613291] SLC10A2 Q12908 VAR_004615 p.Thr262Met LP/P rs72547505 Bile acid malabsorption, primary, 1 (PBAM1) [MIM:613291] SLC10A2 Q12908 VAR_004616 p.Pro290Ser LB/B rs56398830 - SLC10A2 Q12908 VAR_024837 p.Val98Ile LB/B rs55971546 - SLC10A2 Q12908 VAR_024838 p.Val159Ile LB/B rs60380298 - SLC10A3 P09131 VAR_050229 p.Val354Ile LB/B rs35381503 - SLC10A5 Q5PT55 VAR_050230 p.Ile287Thr LB/B rs7012758 - SLC10A6 Q3KNW5 VAR_036904 p.Ser6Phe LB/B rs17694522 - SLC10A6 Q3KNW5 VAR_036905 p.Ile114Val LB/B rs13106574 - SLC10A7 Q0GE19 VAR_082056 p.Leu74Pro LP/P rs1560980659 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) [MIM:618363] SLC10A7 Q0GE19 VAR_082057 p.Gly112Asp LP/P rs1560973571 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) [MIM:618363] SLC10A7 Q0GE19 VAR_082058 p.Gly130Arg US rs1560973467 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) [MIM:618363] SLC10A7 Q0GE19 VAR_082060 p.Pro303Leu LP/P - Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) [MIM:618363] SLC11A1 P49279 VAR_004629 p.Gln30Arg LB/B rs751872662 - SLC11A1 P49279 VAR_004630 p.Ala318Val LB/B rs201565523 - SLC11A1 P49279 VAR_004631 p.Asp543Asn LB/B rs17235409 - SLC11A2 P49281 VAR_008882 p.Leu435Ile LB/B rs144863268 - SLC11A2 P49281 VAR_033012 p.Gly212Val LP/P rs121918367 Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1) [MIM:206100] SLC11A2 P49281 VAR_033013 p.Glu399Asp LP/P rs121918365 Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1) [MIM:206100] SLC11A2 P49281 VAR_033014 p.Arg416Cys LP/P rs121918366 Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1) [MIM:206100] SLC11A2 P49281 VAR_036434 p.Ala48Thr US rs760028045 A colorectal cancer sample SLC12A1 Q13621 VAR_010223 p.Val272Phe LP/P rs137853158 Bartter syndrome 1, antenatal (BARTS1) [MIM:601678] SLC12A1 Q13621 VAR_010224 p.Asp648Asn LP/P rs137853157 Bartter syndrome 1, antenatal (BARTS1) [MIM:601678] SLC12A1 Q13621 VAR_047257 p.Val958Ala LB/B rs1552311 - SLC12A2 P55011 VAR_085083 p.Ala327Val LP/P rs1761279419 Delpire-McNeill syndrome (DELMNES) [MIM:619083] SLC12A2 P55011 VAR_085084 p.Asn376Ile LP/P - Delpire-McNeill syndrome (DELMNES) [MIM:619083] SLC12A2 P55011 VAR_085085 p.Ala379Leu LP/P - Delpire-McNeill syndrome (DELMNES) [MIM:619083] SLC12A2 P55011 VAR_085086 p.Arg410Gln LP/P rs537215758 Delpire-McNeill syndrome (DELMNES) [MIM:619083] SLC12A2 P55011 VAR_085088 p.Glu979Lys LP/P rs1581138934 Deafness, autosomal dominant, 78 (DFNA78) [MIM:619081] SLC12A2 P55011 VAR_085089 p.Glu980Lys LP/P rs1763563407 Delpire-McNeill syndrome (DELMNES) [MIM:619083] SLC12A2 P55011 VAR_085090 p.Asp981Tyr LP/P rs1581138944 Deafness, autosomal dominant, 78 (DFNA78) [MIM:619081] SLC12A2 P55011 VAR_085091 p.Pro988Thr LP/P rs1581138965 Deafness, autosomal dominant, 78 (DFNA78) [MIM:619081] SLC12A3 P55017 VAR_007113 p.Arg209Trp LP/P rs28936388 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_007114 p.Pro349Leu LP/P rs121909383 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_007115 p.Cys421Arg LP/P rs28936387 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_007116 p.Asp486Asn LP/P rs753523115 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_007117 p.Gly496Cys LP/P rs777612082 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_007119 p.Ala588Val LP/P rs121909382 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_007120 p.Gly630Val LP/P rs121909384 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_007121 p.Arg655His LP/P rs121909380 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_007122 p.Arg655Leu LP/P rs121909380 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_007123 p.Ala728Thr LB/B rs36049418 - SLC12A3 P55017 VAR_007124 p.Gly741Arg LP/P rs138977195 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_007125 p.Leu850Pro LP/P rs121909379 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_007126 p.Arg955Gln LP/P rs202114767 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039475 p.Thr60Met LP/P rs371443644 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039476 p.Asp62Asn LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039477 p.Glu68Lys LP/P rs763210286 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039478 p.His69Asn LP/P rs780502516 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039479 p.His90Tyr LP/P rs1596883431 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039480 p.Arg145His LP/P rs374324018 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039481 p.Val153Met LP/P rs779074538 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039482 p.Ile154Phe LP/P rs748547209 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039483 p.Arg158Gln LP/P rs1274973729 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039484 p.Thr163Met LP/P rs267607050 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039485 p.Trp172Arg LP/P rs757792232 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039486 p.Ser178Leu LP/P rs772589653 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039487 p.Thr180Lys LP/P rs146158333 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039488 p.Gly186Asp LP/P rs759426055 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039489 p.Arg209Gln LP/P rs758035631 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039490 p.Leu215Pro LP/P rs780594361 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039491 p.Ala226Thr LP/P rs774753202 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039492 p.Gly230Asp LP/P rs375990084 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039493 p.Arg261His LP/P rs914588619 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039494 p.Ala264Gly LB/B rs1529927 - SLC12A3 P55017 VAR_039495 p.Ser283Tyr LP/P rs1380031877 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039496 p.Lys284Arg LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039497 p.Thr304Pro LP/P rs753840283 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039498 p.Ala313Val LP/P rs140551719 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039499 p.Gly316Val LP/P rs748920885 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039500 p.Arg321Trp LP/P rs150046661 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039501 p.Arg334Trp LP/P rs770702194 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039502 p.Gly342Ala LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039503 p.Gly374Val LP/P rs773669504 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039504 p.Arg399Cys LP/P rs775931992 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039505 p.Gly439Ser LP/P rs759377924 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039506 p.Gly463Glu LP/P rs1375515522 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039507 p.Ala464Thr LP/P rs201945662 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039508 p.Lys478Glu LP/P rs1355705043 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039509 p.Leu542Pro LP/P rs574357286 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039510 p.Ser555Leu LP/P rs148038173 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039511 p.Pro560His LP/P rs1402444800 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039512 p.Ala569Glu LP/P rs79351185 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039513 p.Ala569Val LP/P rs79351185 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039514 p.Val578Met LP/P rs139329616 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039515 p.Gly613Ser LP/P rs1222807128 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039516 p.Ser615Leu LP/P rs779160677 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039517 p.Ser615Trp LP/P rs779160677 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039518 p.Leu623Pro LP/P rs121909385 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039519 p.Arg642Cys LP/P rs200697179 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039520 p.Arg642Gly LP/P rs200697179 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039521 p.Arg642His LP/P rs147901432 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039522 p.Pro643Leu LP/P rs140012781 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039523 p.Thr649Arg LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039524 p.Arg655Cys LP/P rs747249619 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039525 p.Met672Ile LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039526 p.Val677Leu LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039527 p.Val677Met LP/P rs771326058 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039528 p.Gly729Val LP/P rs373901523 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039529 p.Gly731Arg LP/P rs752101663 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039530 p.Leu738Arg LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039531 p.Leu849His LP/P rs185927948 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039532 p.Arg852Cys LP/P rs373899077 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039533 p.Arg852His LP/P rs751929135 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039534 p.Arg852Ser LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039535 p.Gly867Ser LP/P rs370301695 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039536 p.Arg871His LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039537 p.Arg904Gln LB/B rs11643718 - SLC12A3 P55017 VAR_039538 p.Arg919Cys LB/B rs12708965 - SLC12A3 P55017 VAR_039539 p.Arg958Gly LP/P rs773428143 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_039540 p.Cys985Tyr LP/P rs199849117 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_060106 p.Arg854Lys LB/B rs8060046 - SLC12A3 P55017 VAR_075931 p.Asp62His LP/P rs757490496 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075932 p.Arg83Gln LP/P rs768527231 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075933 p.Arg83Trp LP/P rs201255508 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075934 p.Glu121Asp LP/P rs146632606 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075935 p.Arg135Cys LP/P rs749742102 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075936 p.Arg145Cys LP/P rs148945966 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075937 p.Ile150Met LP/P rs143714318 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075938 p.Leu157Pro LP/P rs775047246 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075939 p.Arg158Leu LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075940 p.Ala166Val LP/P rs779683214 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075941 p.Ile192Thr LP/P rs1231715433 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075942 p.Thr194Ile LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075943 p.Thr235Arg LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075944 p.Asp259Asn LP/P rs780461639 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075945 p.Leu272Pro LP/P rs568513106 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075946 p.Thr304Met LP/P rs755069436 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075947 p.Gly374Glu LP/P rs773669504 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075948 p.Thr382Met LP/P rs187885782 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075949 p.Thr392Ile LP/P rs748575829 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075951 p.Asn442Ser LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075952 p.Gly463Arg LP/P rs374163823 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075953 p.Ser475Cys LP/P rs373017321 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075954 p.Tyr489His LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075955 p.Arg507Cys LP/P rs369510226 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075956 p.Ala523Thr LP/P rs781137708 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075957 p.Asn534Ser LP/P rs780433336 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075958 p.Phe536Leu LP/P rs748650798 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075959 p.Ser546Gly LP/P rs1451284628 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075960 p.Pro560Arg LP/P rs1402444800 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075962 p.Val647Met LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075964 p.Pro735Arg LP/P rs757761069 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075965 p.Pro751Leu LP/P rs368068353 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075966 p.Ser824Thr LP/P rs146845953 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075967 p.Asp839Asn LP/P rs1298687889 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075968 p.Leu849Phe LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075969 p.Arg862Cys LP/P rs754505583 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075970 p.Met872Thr LP/P rs752124879 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075971 p.Arg887Gln LP/P rs369360334 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075972 p.Arg934Trp LP/P rs201721269 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075973 p.Arg935Trp US rs56125220 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075974 p.Gly980Arg LP/P rs34803727 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075975 p.Arg1009Gln LP/P rs370175770 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_075976 p.Gln1021Arg LP/P rs762026283 Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_088220 p.Gly212Ser LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_088221 p.Thr304Lys LP/P - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_088222 p.Asn359Lys US - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_088223 p.Leu537Phe US - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A3 P55017 VAR_088224 p.Gly1010Arg US - Gitelman syndrome (GTLMNS) [MIM:263800] SLC12A5 Q9H2X9 VAR_024994 p.Pro1100Leu LB/B rs17297532 - SLC12A5 Q9H2X9 VAR_027414 p.Pro407Ala LB/B rs16985442 - SLC12A5 Q9H2X9 VAR_036557 p.Gly847Asp US - A colorectal cancer sample SLC12A5 Q9H2X9 VAR_075078 p.Leu311His LP/P rs863225306 Developmental and epileptic encephalopathy 34 (DEE34) [MIM:616645] SLC12A5 Q9H2X9 VAR_075079 p.Leu426Pro LP/P rs863225304 Developmental and epileptic encephalopathy 34 (DEE34) [MIM:616645] SLC12A5 Q9H2X9 VAR_075080 p.Gly551Asp LP/P rs863225305 Developmental and epileptic encephalopathy 34 (DEE34) [MIM:616645] SLC12A5 Q9H2X9 VAR_075081 p.Arg975His LP/P rs142740233 Epilepsy, idiopathic generalized 14 (EIG14) [MIM:616685] SLC12A5 Q9H2X9 VAR_075082 p.Arg1071Trp LB/B rs369042030 - SLC12A5 Q9H2X9 VAR_075083 p.Arg1072Cys LP/P rs548424453 Epilepsy, idiopathic generalized 14 (EIG14) [MIM:616685] SLC12A6 Q9UHW9 VAR_014960 p.Phe415Ser LB/B rs2705339 - SLC12A6 Q9UHW9 VAR_087853 p.Arg207Cys LP/P rs121908429 Agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) [MIM:218000] SLC12A6 Q9UHW9 VAR_087854 p.Arg207His LP/P - Charcot-Marie-Tooth disease, axonal, 2II (CMT2II) [MIM:620068] SLC12A6 Q9UHW9 VAR_087855 p.Glu289Lys LP/P - Charcot-Marie-Tooth disease, axonal, 2II (CMT2II) [MIM:620068] SLC12A6 Q9UHW9 VAR_087858 p.Tyr679Cys LP/P - Charcot-Marie-Tooth disease, axonal, 2II (CMT2II) [MIM:620068] SLC12A6 Q9UHW9 VAR_087859 p.Tyr679Ser US - Charcot-Marie-Tooth disease, axonal, 2II (CMT2II) [MIM:620068] SLC12A6 Q9UHW9 VAR_087860 p.Thr991Ala LP/P - Charcot-Marie-Tooth disease, axonal, 2II (CMT2II) [MIM:620068] SLC12A7 Q9Y666 VAR_028748 p.Ala408Thr LB/B rs4526148 - SLC12A8 A0AV02 VAR_035199 p.Arg181Cys LB/B rs2993631 - SLC12A8 A0AV02 VAR_035200 p.Leu266Pro LB/B rs863642 - SLC12A8 A0AV02 VAR_035201 p.Lys541Arg LB/B rs6773138 - SLC12A8 A0AV02 VAR_035202 p.Arg664Gln LB/B rs2981482 - SLC12A8 A0AV02 VAR_062148 p.Ile281Val LB/B rs621383 - SLC13A1 Q9BZW2 VAR_022018 p.Asn174Ser LB/B rs2140516 - SLC13A1 Q9BZW2 VAR_029247 p.Phe42Leu LB/B rs28364181 - SLC13A1 Q9BZW2 VAR_029248 p.Val44Ile LB/B rs28364177 - SLC13A1 Q9BZW2 VAR_029249 p.Gln157Glu LB/B rs28364196 - SLC13A1 Q9BZW2 VAR_029250 p.Tyr205Cys LB/B rs28364231 - SLC13A1 Q9BZW2 VAR_029251 p.Arg277His LB/B rs28364200 - SLC13A1 Q9BZW2 VAR_029252 p.Val332Ala LB/B rs28364201 - SLC13A1 Q9BZW2 VAR_029253 p.Ile392Thr LB/B rs28364210 - SLC13A1 Q9BZW2 VAR_059804 p.Thr240Met LB/B rs10231144 - SLC13A2 Q13183 VAR_020399 p.Pro385Ser LB/B rs45546232 - SLC13A2 Q13183 VAR_020400 p.Ile550Val LB/B rs11567842 - SLC13A2 Q13183 VAR_029254 p.Leu44Phe LB/B rs45443898 - SLC13A2 Q13183 VAR_029255 p.Phe254Leu LB/B rs11568461 - SLC13A2 Q13183 VAR_029256 p.Ala310Pro LB/B rs11568441 - SLC13A2 Q13183 VAR_029257 p.Val477Met LB/B rs11568476 - SLC13A2 Q13183 VAR_052000 p.Met45Leu LB/B rs16964363 - SLC13A3 Q8WWT9 VAR_082121 p.Ala254Asp LP/P rs1568927501 Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (ARLIAK) [MIM:618384] SLC13A3 Q8WWT9 VAR_082122 p.Gly548Ser LP/P rs1568904872 Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (ARLIAK) [MIM:618384] SLC13A4 Q9UKG4 VAR_057193 p.Pro451Ser LB/B rs36004833 - SLC13A5 Q86YT5 VAR_078912 p.Thr142Met LP/P rs761917087 Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta (DEE25) [MIM:615905] SLC13A5 Q86YT5 VAR_078913 p.Gly219Arg LP/P rs144332569 Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta (DEE25) [MIM:615905] SLC13A5 Q86YT5 VAR_078914 p.Thr227Met LP/P rs587777577 Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta (DEE25) [MIM:615905] SLC13A5 Q86YT5 VAR_078916 p.Ser427Leu LP/P rs548065551 Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta (DEE25) [MIM:615905] SLC13A5 Q86YT5 VAR_078917 p.Leu488Pro LP/P rs587777578 Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta (DEE25) [MIM:615905] SLC13A5 Q86YT5 VAR_078918 p.Asp524His LP/P rs863225448 Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta (DEE25) [MIM:615905] SLC13A5 Q86YT5 VAR_084747 p.Gly219Glu LB/B rs150024888 - SLC13A5 Q86YT5 VAR_084748 p.Asp243Asn LB/B rs142262032 - SLC13A5 Q86YT5 VAR_084749 p.Leu420Pro LB/B rs150738356 - SLC13A5 Q86YT5 VAR_084750 p.Leu485Arg LB/B rs148049520 - SLC14A1 Q13336 VAR_005669 p.Asp280Asn LB/B rs1058396 - SLC14A1 Q13336 VAR_013752 p.Ser291Pro LB/B rs78242949 - SLC14A1 Q13336 VAR_022319 p.Glu44Lys LB/B rs2298720 - SLC14A1 Q13336 VAR_051483 p.Met167Val LB/B rs2298719 - SLC14A1 Q13336 VAR_051484 p.Trp171Arg LB/B rs9948825 - SLC14A1 Q13336 VAR_065466 p.Asn74Lys LB/B rs749037771 - SLC14A1 Q13336 VAR_065467 p.Gly299Glu LB/B rs538368217 - SLC14A1 Q13336 VAR_065468 p.Thr319Met LB/B rs565898944 - SLC14A2 Q15849 VAR_038690 p.Ala880Thr LB/B rs3745009 - SLC14A2 Q15849 VAR_057016 p.Thr37Ile LB/B rs34461862 - SLC14A2 Q15849 VAR_057017 p.Gly443Ser LB/B rs35245152 - SLC14A2 Q15849 VAR_057018 p.Val750Ile LB/B rs1123617 - SLC14A2 Q15849 VAR_060255 p.Ile132Val LB/B rs1484873 - SLC14A2 Q15849 VAR_060256 p.Arg510Gln LB/B rs9960464 - SLC15A1 P46059 VAR_020456 p.Val122Met LB/B rs8187820 - SLC15A1 P46059 VAR_020457 p.Gly419Ala LB/B rs4646227 - SLC15A1 P46059 VAR_020458 p.Thr451Asn LB/B rs8187838 - SLC15A1 P46059 VAR_022147 p.Ser117Asn LB/B rs2297322 - SLC15A1 P46059 VAR_022148 p.Val450Ile LB/B rs2274828 - SLC15A1 P46059 VAR_022149 p.Arg459Cys LB/B rs2274827 - SLC15A1 P46059 VAR_029321 p.Val21Ile LB/B rs8187818 - SLC15A1 P46059 VAR_029322 p.Phe28Tyr LB/B rs8187817 - SLC15A1 P46059 VAR_029323 p.Ser117Arg LB/B rs8187821 - SLC15A1 P46059 VAR_029324 p.Pro537Ser LB/B rs8187830 - SLC15A2 Q16348 VAR_047001 p.Arg57His LB/B rs1920305 - SLC15A2 Q16348 VAR_047002 p.Tyr73Cys LB/B rs1143667 - SLC15A2 Q16348 VAR_047003 p.Leu350Phe LB/B rs2257212 - SLC15A2 Q16348 VAR_047004 p.Pro409Ser LB/B rs1143671 - SLC15A2 Q16348 VAR_047005 p.Arg509Lys LB/B rs1143672 - SLC15A2 Q16348 VAR_047006 p.Ala609Gly LB/B rs1143668 - SLC15A2 Q16348 VAR_047008 p.Met704Leu LB/B rs1920314 - SLC15A3 Q8IY34 VAR_034592 p.Ile349Phe LB/B rs17855607 - SLC15A4 Q8N697 VAR_051611 p.Val239Ala LB/B rs33990080 - SLC15A5 A6NIM6 VAR_042979 p.His141Gln LB/B rs1799516 - SLC15A5 A6NIM6 VAR_042980 p.Pro271Leu LB/B rs1527014 - SLC15A5 A6NIM6 VAR_042981 p.Asp494Glu LB/B rs1671511 - SLC15A5 A6NIM6 VAR_042982 p.Glu508Lys LB/B rs3946358 - SLC16A1 P53985 VAR_010434 p.Lys204Glu LP/P rs80358222 Symptomatic deficiency in lactate transport (SDLT) [MIM:245340] SLC16A1 P53985 VAR_010435 p.Gly472Arg LP/P rs72552271 Symptomatic deficiency in lactate transport (SDLT) [MIM:245340] SLC16A1 P53985 VAR_010436 p.Asp490Glu LB/B rs1049434 - SLC16A1 P53985 VAR_054804 p.Ser85Gly LB/B rs11551867 - SLC16A1 P53985 VAR_072428 p.Arg313Gln LP/P rs606231302 Monocarboxylate transporter 1 deficiency (MCT1D) [MIM:616095] SLC16A10 Q8TF71 VAR_037874 p.Lys508Gln LB/B rs17072442 - SLC16A11 Q8NCK7 VAR_032157 p.Asp127Gly LB/B rs13342692 - SLC16A11 Q8NCK7 VAR_070544 p.Val113Ile LB/B rs117767867 - SLC16A11 Q8NCK7 VAR_070545 p.Gly340Ser LB/B rs75418188 - SLC16A11 Q8NCK7 VAR_070546 p.Pro443Thr LB/B rs75493593 - SLC16A12 Q6ZSM3 VAR_071890 p.Gly437Ser US rs759863805 - SLC16A2 P36021 VAR_022348 p.Ala150Val LP/P rs104894936 Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_022349 p.Leu397Pro LP/P rs122455132 Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_022350 p.Leu438Pro LP/P rs104894931 Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_057723 p.Ile323Leu LB/B rs12849411 - SLC16A2 P36021 VAR_059054 p.Ser120Phe LP/P rs113994162 Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_059056 p.Val161Met LP/P - Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_059057 p.Leu360Trp LP/P rs104894939 Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_059059 p.Gly490Arg LP/P rs794727799 Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_059060 p.Leu494Pro LP/P rs104894938 Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_074572 p.Gly147Arg LP/P rs1602140936 Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_074573 p.Ala150Thr LP/P rs373279555 Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_074574 p.Arg197His LP/P rs727504155 Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_074575 p.Gly208Cys LP/P - Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_074576 p.Pro247Leu LP/P - Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_074577 p.Arg371Cys LP/P rs587784384 Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_074578 p.Asp379Val LP/P - Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_074579 p.Pro463Leu LP/P - Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_074580 p.Gly484Asp LP/P - Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_075145 p.Ser216Phe LP/P rs398124232 Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_078497 p.Leu217Arg LP/P - Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_078498 p.Gly490Glu LP/P - Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A4 O15374 VAR_020309 p.Asn264His LB/B rs2271885 - SLC16A4 O15374 VAR_053655 p.Ala185Thr LB/B rs35157487 - SLC16A6 O15403 VAR_053656 p.Ile121Thr LB/B rs35397826 - SLC16A6 O15403 VAR_053657 p.Phe204Ile LB/B rs7222013 - SLC16A6 O15403 VAR_053658 p.Glu217Asp LB/B rs3744307 - SLC16A6 O15403 VAR_053659 p.Glu221Val LB/B rs4410141 - SLC16A7 O60669 VAR_031660 p.Thr445Ser LB/B rs3763980 - SLC16A8 O95907 VAR_053654 p.Val405Ala LB/B rs2076371 - SLC16A8 O95907 VAR_060107 p.Arg235Trp LB/B rs4289289 - SLC16A9 Q7RTY1 VAR_032619 p.Thr258Lys LB/B rs2242206 - SLC16A9 Q7RTY1 VAR_032620 p.Asp461Glu LB/B rs11006655 - SLC16A9 Q7RTY1 VAR_062149 p.Ala203Val LB/B rs56370926 - SLC17A1 Q14916 VAR_050060 p.Ser76Asn LB/B rs6933573 - SLC17A1 Q14916 VAR_050061 p.Thr269Ile LB/B rs1165196 - SLC17A3 O00476 VAR_024533 p.Ala100Thr LB/B rs1165165 - SLC17A3 O00476 VAR_034700 p.Gly201Arg LB/B rs56027330 - SLC17A3 O00476 VAR_046633 p.Pro300Leu LB/B rs11966370 - SLC17A3 O00476 VAR_068680 p.Asn68His LB/B rs387907257 - SLC17A3 O00476 VAR_068681 p.Phe226Ser LB/B rs387907256 - SLC17A4 Q9Y2C5 VAR_038709 p.Ala372Thr LB/B rs11754288 - SLC17A5 Q9NRA2 VAR_018684 p.Arg39Cys LP/P rs80338794 Salla disease (SD) [MIM:604369] SLC17A5 Q9NRA2 VAR_018685 p.Lys136Glu LP/P rs80338795 Salla disease (SD) [MIM:604369] SLC17A5 Q9NRA2 VAR_018686 p.His183Arg LP/P rs119491109 Infantile sialic acid storage disorder (ISSD) [MIM:269920] SLC17A5 Q9NRA2 VAR_018688 p.Pro334Arg LP/P rs119491110 Infantile sialic acid storage disorder (ISSD) [MIM:269920] SLC17A5 Q9NRA2 VAR_018689 p.Gly371Val LP/P rs777862172 Infantile sialic acid storage disorder (ISSD) [MIM:269920] SLC17A5 Q9NRA2 VAR_034746 p.Val296Ile LB/B rs16883930 - SLC17A5 Q9NRA2 VAR_087626 p.Gly328Glu LP/P rs386833996 Infantile sialic acid storage disorder (ISSD) [MIM:269920] SLC17A6 Q9P2U8 VAR_038710 p.Thr40Ser US - A breast cancer sample SLC17A6 Q9P2U8 VAR_038711 p.Asn551Ser LB/B rs7117340 - SLC17A7 Q9P2U7 VAR_042904 p.Pro431Arg LB/B rs17855709 - SLC17A8 Q8NDX2 VAR_042905 p.Thr8Ile LB/B rs45610843 - SLC17A8 Q8NDX2 VAR_054130 p.Ala211Val LP/P rs121918339 Deafness, autosomal dominant, 25 (DFNA25) [MIM:605583] SLC17A8 Q8NDX2 VAR_054131 p.Ala220Thr LB/B rs11568530 - SLC17A8 Q8NDX2 VAR_054132 p.Gly246Glu LB/B rs11568543 - SLC17A9 Q9BYT1 VAR_055326 p.Asn228Ser LB/B rs2427463 - SLC17A9 Q9BYT1 VAR_056128 p.Thr397Met LB/B rs7271712 - SLC17A9 Q9BYT1 VAR_071983 p.Arg9Cys LP/P rs548728088 Porokeratosis 8, disseminated superficial actinic type (POROK8) [MIM:616063] SLC17A9 Q9BYT1 VAR_071984 p.Arg311Gln LP/P rs606231251 Porokeratosis 8, disseminated superficial actinic type (POROK8) [MIM:616063] SLC18A1 P54219 VAR_012065 p.Ile136Thr LB/B rs1390938 - SLC18A1 P54219 VAR_020033 p.Ser98Thr LB/B rs2270637 - SLC18A1 P54219 VAR_021856 p.Thr4Pro LB/B rs2270641 - SLC18A1 P54219 VAR_024632 p.Ala74Val LB/B rs17215815 - SLC18A1 P54219 VAR_024633 p.Phe84Ser LB/B rs17215801 - SLC18A1 P54219 VAR_024634 p.Ala101Pro LB/B rs17222218 - SLC18A1 P54219 VAR_024635 p.Ile164Met LB/B rs17222092 - SLC18A1 P54219 VAR_024636 p.Val249Ile LB/B rs17215759 - SLC18A1 P54219 VAR_024637 p.Leu392Val LB/B rs17092104 - SLC18A1 P54219 VAR_029149 p.Phe82Cys LB/B rs17215822 - SLC18A1 P54219 VAR_029150 p.Gly140Arg LB/B rs17215808 - SLC18A1 P54219 VAR_029151 p.Ile202Thr LB/B rs17222120 - SLC18A1 P54219 VAR_052002 p.Arg11Gln LB/B rs17092144 - SLC18A1 P54219 VAR_087305 p.Gln10Arg LB/B rs150204882 - SLC18A1 P54219 VAR_087306 p.Arg138Leu LB/B rs148468662 - SLC18A2 Q05940 VAR_081069 p.Pro387Leu LP/P rs1392638187 Parkinsonism-dystonia 2, infantile-onset (PKDYS2) [MIM:618049] SLC18A3 Q16572 VAR_020034 p.Ala13Pro LB/B rs8187733 - SLC18A3 Q16572 VAR_020035 p.Arg29Trp LB/B rs8187734 - SLC18A3 Q16572 VAR_024638 p.Ala520Glu LB/B rs8187730 - SLC18A3 Q16572 VAR_029152 p.Arg11Gln LB/B rs8187732 - SLC18A3 Q16572 VAR_078030 p.Gly186Ala LP/P rs1057517665 Myasthenic syndrome, congenital, 21, presynaptic (CMS21) [MIM:617239] SLC18A3 Q16572 VAR_078031 p.Asp398His LP/P rs1057517666 Myasthenic syndrome, congenital, 21, presynaptic (CMS21) [MIM:617239] SLC18B1 Q6NT16 VAR_033185 p.Val204Ile LB/B rs6926101 - SLC18B1 Q6NT16 VAR_061382 p.Arg11Leu LB/B rs59989552 - SLC18B1 Q6NT16 VAR_063260 p.Ser30Pro LB/B rs41286192 - SLC19A1 P41440 VAR_020210 p.His27Arg LB/B rs1051266 - SLC19A1 P41440 VAR_052404 p.Ala558Val LB/B rs35786590 - SLC19A2 O60779 VAR_010248 p.Gly172Asp LP/P rs28937595 Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270] SLC19A2 O60779 VAR_010249 p.Asp93His LP/P - Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270] SLC19A2 O60779 VAR_010250 p.Ser143Phe LP/P rs761957186 Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270] SLC19A3 Q9BZV2 VAR_025992 p.Gly23Val LP/P rs121917882 Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) [MIM:607483] SLC19A3 Q9BZV2 VAR_025993 p.Thr422Ala LP/P rs121917884 Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) [MIM:607483] SLC19A3 Q9BZV2 VAR_052405 p.Val350Ala LB/B rs34507036 - SLC19A3 Q9BZV2 VAR_061864 p.Val174Ile LB/B rs59736804 - SLC1A1 P43005 VAR_023308 p.Phe50Tyr LB/B rs2228621 - SLC1A1 P43005 VAR_023309 p.Ala27Gly LB/B rs2229885 - SLC1A1 P43005 VAR_071954 p.Arg445Trp LP/P rs587777696 Dicarboxylic aminoaciduria (DCBXA) [MIM:222730] SLC1A2 P43004 VAR_077083 p.Gly82Arg LP/P rs886037942 Developmental and epileptic encephalopathy 41 (DEE41) [MIM:617105] SLC1A2 P43004 VAR_077084 p.Leu85Pro LP/P rs886037943 Developmental and epileptic encephalopathy 41 (DEE41) [MIM:617105] SLC1A2 P43004 VAR_080229 p.Pro289Arg LP/P rs781379291 Developmental and epileptic encephalopathy 41 (DEE41) [MIM:617105] SLC1A3 P43003 VAR_011877 p.Glu219Asp LB/B rs2032892 - SLC1A3 P43003 VAR_031733 p.Pro290Arg LP/P rs137852619 Episodic ataxia 6 (EA6) [MIM:612656] SLC1A4 P43007 VAR_011878 p.Gly37Arg LB/B rs1064512 - SLC1A4 P43007 VAR_011879 p.Val399Ile LB/B rs759458 - SLC1A4 P43007 VAR_075085 p.Glu256Lys LP/P rs201278558 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) [MIM:616657] SLC1A4 P43007 VAR_075086 p.Arg457Trp LP/P rs761533681 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) [MIM:616657] SLC1A5 Q15758 VAR_013517 p.Val512Leu LB/B rs3027961 - SLC1A5 Q15758 VAR_020439 p.Pro17Ala LB/B rs3027956 - SLC1A7 O00341 VAR_035707 p.Arg41Cys US rs375136400 A colorectal cancer sample SLC1A7 O00341 VAR_052488 p.Gln537Arg LB/B rs1288401 - SLC20A2 Q08357 VAR_067546 p.Gly498Arg LP/P - Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_067547 p.Glu575Lys LP/P rs387906653 Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_067548 p.Thr595Met LP/P rs387906654 Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_067549 p.Ser601Leu LP/P rs387906652 Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_067550 p.Ser601Trp LP/P rs387906652 Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_072255 p.Ile11Leu LP/P rs201836672 Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_072256 p.Asp28Asn LP/P rs1554561099 Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_072257 p.Ala51Val LP/P - Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_072258 p.Leu62Pro LP/P - Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_072259 p.Arg71His LP/P - Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_072260 p.Thr115Met LP/P rs775911275 Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_072261 p.Arg382Gln LP/P rs200010919 Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_072262 p.Ser434Trp LP/P rs1357615935 Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_072263 p.His502Gln LP/P - Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_072264 p.Pro568Leu LP/P rs763252801 Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_072265 p.Ser637Arg LP/P - Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_075396 p.Pro184Leu US - Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_075397 p.Asn194Ser US rs748252183 Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC20A2 Q08357 VAR_075398 p.Gly571Ser LP/P rs1388992742 Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600] SLC22A1 O15245 VAR_043319 p.Ser14Phe LB/B rs34447885 - SLC22A1 O15245 VAR_043320 p.Phe41Leu LB/B rs2297373 - SLC22A1 O15245 VAR_043321 p.Arg61Cys LB/B rs12208357 - SLC22A1 O15245 VAR_043322 p.Leu85Phe LB/B rs35546288 - SLC22A1 O15245 VAR_043323 p.Cys88Arg LB/B rs55918055 - SLC22A1 O15245 VAR_043324 p.Leu160Phe LB/B rs683369 - SLC22A1 O15245 VAR_043325 p.Ser189Leu LB/B rs34104736 - SLC22A1 O15245 VAR_043326 p.Gly220Val LB/B rs36103319 - SLC22A1 O15245 VAR_043327 p.Pro283Leu LB/B rs4646277 - SLC22A1 O15245 VAR_043328 p.Arg287Gly LB/B rs4646278 - SLC22A1 O15245 VAR_043329 p.Pro341Leu LB/B rs2282143 - SLC22A1 O15245 VAR_043330 p.Arg342His LB/B rs34205214 - SLC22A1 O15245 VAR_043331 p.Gly401Ser LB/B rs34130495 - SLC22A1 O15245 VAR_043332 p.Met408Val LB/B rs628031 - SLC22A1 O15245 VAR_043334 p.Met440Ile LB/B rs35956182 - SLC22A1 O15245 VAR_043335 p.Val461Ile LB/B rs34295611 - SLC22A1 O15245 VAR_043336 p.Gly465Arg LB/B rs34059508 - SLC22A1 O15245 VAR_043337 p.Arg488Met LB/B rs35270274 - SLC22A11 Q9NSA0 VAR_053962 p.Val155Gly LB/B rs12785832 - SLC22A12 Q96S37 VAR_036720 p.Gly65Trp LB/B rs12800450 - SLC22A12 Q96S37 VAR_036721 p.Arg90His LP/P rs121907896 Hypouricemia renal 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_036722 p.Arg92Cys LB/B rs144328876 - SLC22A12 Q96S37 VAR_036723 p.Val138Met LP/P rs149722479 Hypouricemia renal 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_036724 p.Gly164Ser LP/P rs201181059 Hypouricemia renal 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_036725 p.Thr217Met LP/P rs121907893 Hypouricemia renal 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_036726 p.Ala226Val LB/B rs145738825 - SLC22A12 Q96S37 VAR_036727 p.Arg284Gly US - - SLC22A12 Q96S37 VAR_036728 p.Gly290Cys US - - SLC22A12 Q96S37 VAR_036729 p.Gln297Glu US - - SLC22A12 Q96S37 VAR_036730 p.Glu298Asp LP/P rs121907894 Hypouricemia renal 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_036731 p.Ile305Ser US - - SLC22A12 Q96S37 VAR_036732 p.Gln312Leu LB/B - - SLC22A12 Q96S37 VAR_036734 p.Gln382Leu LP/P rs765990518 Hypouricemia renal 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_036735 p.Leu418Arg LP/P rs121907895 Hypouricemia renal 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_036736 p.Met430Thr LP/P rs2039413303 Hypouricemia renal 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_036737 p.Arg477His LP/P rs773677616 Hypouricemia renal 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_075344 p.Gly366Arg LP/P rs1047976958 Hypouricemia renal 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_084699 p.Ile75Thr US rs141570522 Hypouricemia renal 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_084700 p.Arg347Ser US rs374858585 Hypouricemia renal 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_084701 p.Val388Met US rs146388519 Hypouricemia renal 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_084702 p.Arg434Cys US rs145200251 Hypouricemia renal 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_084703 p.Arg434His US rs147647315 Hypouricemia renal 1 (RHUC1) [MIM:220150] SLC22A13 Q9Y226 VAR_025787 p.Val43Ile LB/B rs17853496 - SLC22A13 Q9Y226 VAR_025788 p.Leu443Phe LB/B rs17857080 - SLC22A13 Q9Y226 VAR_086737 p.Arg377Cys LB/B rs117371763 - SLC22A14 Q9Y267 VAR_055108 p.Pro108His LB/B rs9847584 - SLC22A14 Q9Y267 VAR_055109 p.Lys112Glu LB/B rs2073714 - SLC22A14 Q9Y267 VAR_055110 p.Ile144Thr LB/B rs194685 - SLC22A14 Q9Y267 VAR_055111 p.Ser245Leu LB/B rs1078846 - SLC22A14 Q9Y267 VAR_055112 p.Val284Met LB/B rs818818 - SLC22A14 Q9Y267 VAR_055113 p.Ser292Gly LB/B rs818817 - SLC22A14 Q9Y267 VAR_055114 p.Leu466Pro LB/B rs34256819 - SLC22A14 Q9Y267 VAR_055115 p.Ala512Val LB/B rs2070492 - SLC22A14 Q9Y267 VAR_055116 p.Pro560Arg LB/B rs240033 - SLC22A15 Q8IZD6 VAR_043813 p.Pro349Gln LB/B rs17852419 - SLC22A16 Q86VW1 VAR_038930 p.His49Arg LB/B rs714368 - SLC22A16 Q86VW1 VAR_038931 p.Val252Ala LB/B rs723685 - SLC22A16 Q86VW1 VAR_038932 p.Met409Thr LB/B rs12210538 - SLC22A16 Q86VW1 VAR_038933 p.Val431Ile LB/B rs35948062 - SLC22A18 Q96BI1 VAR_024061 p.Arg86Cys US - A rhabdomyosarcoma sample SLC22A18 Q96BI1 VAR_024062 p.Ser233Phe LP/P rs121909071 Lung cancer (LNCR) [MIM:211980] SLC22A18 Q96BI1 VAR_024063 p.Arg309Gln LB/B rs141165353 - SLC22A18 Q96BI1 VAR_055406 p.Ala6Thr LB/B rs1048046 - SLC22A18 Q96BI1 VAR_055407 p.Arg12Gln LB/B rs1048047 - SLC22A18 Q96BI1 VAR_055408 p.Trp324Cys LB/B rs1129782 - SLC22A18AS Q8N1D0 VAR_024064 p.Gly133Arg LB/B rs441071 - SLC22A18AS Q8N1D0 VAR_068886 p.Gly89Asp LB/B rs365605 - SLC22A2 O15244 VAR_039322 p.Pro54Ser LB/B rs8177504 - SLC22A2 O15244 VAR_039323 p.Met165Ile LB/B rs8177507 - SLC22A2 O15244 VAR_039324 p.Thr201Met LB/B rs145450955 - SLC22A2 O15244 VAR_039325 p.Ser270Ala LB/B rs316019 - SLC22A2 O15244 VAR_039326 p.Ala297Gly LB/B rs8177513 - SLC22A2 O15244 VAR_039327 p.Arg400Cys LB/B rs8177516 - SLC22A2 O15244 VAR_039328 p.Lys432Gln LB/B rs8177517 - SLC22A2 O15244 VAR_039329 p.Arg463Lys LB/B rs3907239 - SLC22A20P A6NK97 VAR_040065 p.Ala58Asp LB/B rs11605576 - SLC22A20P A6NK97 VAR_040066 p.Ala139Val LB/B rs12420456 - SLC22A25 Q6T423 VAR_042576 p.Ser250Gly LB/B rs11231409 - SLC22A25 Q6T423 VAR_042577 p.Arg300Thr LB/B rs11231397 - SLC22A25 Q6T423 VAR_057783 p.Arg89Cys LB/B rs35722529 - SLC22A25 Q6T423 VAR_057784 p.Gly448Ala LB/B rs17157907 - SLC22A25 Q6T423 VAR_060287 p.Met486Val LB/B rs6591771 - SLC22A3 O75751 VAR_020351 p.Thr44Met LB/B rs8187715 - SLC22A3 O75751 VAR_020352 p.Ala116Ser LB/B rs8187717 - SLC22A4 Q9H015 VAR_019528 p.Ile306Thr LB/B rs272893 - SLC22A4 Q9H015 VAR_019529 p.Gly462Glu LB/B rs4646201 - SLC22A4 Q9H015 VAR_019530 p.Leu503Phe LB/B rs1050152 - SLC22A5 O76082 VAR_009252 p.Arg169Gln LP/P rs121908889 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_009253 p.Tyr211Cys LP/P rs121908888 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_009254 p.Trp283Arg LP/P rs72552729 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_009255 p.Val446Phe LP/P rs72552733 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_009256 p.Glu452Lys LP/P rs72552734 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_009257 p.Pro478Leu LP/P rs72552735 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_020347 p.Phe17Leu LP/P rs11568520 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_020348 p.Leu144Phe LB/B rs10040427 - SLC22A5 O76082 VAR_020349 p.Val481Phe LB/B rs11568513 - SLC22A5 O76082 VAR_020350 p.Pro549Ser LB/B rs11568525 - SLC22A5 O76082 VAR_022564 p.Met179Leu US rs386134196 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_022565 p.Trp283Cys LP/P rs386134211 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_022566 p.Ser467Cys LP/P rs60376624 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_029315 p.Tyr449Asp US rs11568514 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_029316 p.Phe508Leu LB/B rs11568521 - SLC22A5 O76082 VAR_029317 p.Met530Val LB/B rs11568524 - SLC22A5 O76082 VAR_036816 p.Val481Ile LB/B rs11568513 - SLC22A5 O76082 VAR_064109 p.Gly12Ser US rs139203363 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064110 p.Gly15Trp LP/P rs267607052 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064111 p.Arg19Pro LP/P rs72552723 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064112 p.Asn32Ser LP/P rs72552725 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064113 p.Pro46Ser LP/P rs202088921 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064114 p.Thr66Pro LP/P - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064115 p.Arg75Pro LP/P rs757711838 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064116 p.Arg83Leu LP/P rs72552726 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064117 p.Gly96Ala LP/P rs377767450 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064118 p.Asp122Tyr LP/P rs201082652 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064119 p.Val123Gly LP/P rs748605096 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064120 p.Ala142Ser US rs151231558 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064121 p.Pro143Leu LP/P rs1178584184 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064122 p.Arg169Trp LP/P rs121908890 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064123 p.Met177Val LP/P rs145068530 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064124 p.Leu186Pro LP/P rs386134197 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064125 p.Ala214Val US rs386134199 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064126 p.Arg227His LP/P rs185551386 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064127 p.Phe230Leu LP/P rs756650860 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064128 p.Thr232Met LP/P rs114269482 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064129 p.Gly234Arg LP/P rs1457258524 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064130 p.Ala240Thr LP/P - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064131 p.Gly242Val LP/P rs72552728 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064132 p.Arg257Trp LP/P rs386134203 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064133 p.Thr264Arg LP/P rs201262157 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064134 p.Arg282Gln LP/P rs386134210 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064135 p.Ala301Asp LP/P rs72552730 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064136 p.Ile312Val US rs77300588 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064137 p.Trp351Arg LP/P rs68018207 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064138 p.Ser355Leu LP/P rs1385634398 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064139 p.Tyr358Asn LP/P rs61731073 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064140 p.Ser362Leu LP/P rs886042092 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064141 p.Pro398Leu LP/P rs144547521 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064142 p.Arg399Gln LP/P rs121908891 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064143 p.Arg399Trp LP/P rs267607054 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064144 p.Thr440Met LP/P rs72552732 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064145 p.Ala442Ile LP/P rs267607053 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064146 p.Phe443Val LP/P - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064147 p.Tyr447Cys LP/P rs386134218 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064148 p.Pro455Arg LP/P rs1408166345 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064149 p.Thr468Arg LP/P rs386134221 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064150 p.Arg471Cys LP/P rs749282641 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064151 p.Arg488Cys LP/P rs377216516 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064152 p.Leu507Ser LP/P rs1157198543 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_066843 p.Ser26Asn LP/P rs772578415 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_066844 p.Ser280Phe LP/P rs386134208 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_066845 p.Arg471Pro LP/P - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_066846 p.Arg488His US rs28383481 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079641 p.Pro16Leu LP/P - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079642 p.Leu20His US rs144020613 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079643 p.Ser28Ile LP/P rs72552724 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079644 p.Ala44Val LP/P rs199689597 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079645 p.Pro46Leu LP/P rs377767445 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079646 p.Cys50Tyr LP/P - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079647 p.Ser93Trp LP/P rs386134190 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079648 p.Leu95Val US rs386134191 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079649 p.Asp115Gly LP/P rs386134192 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079651 p.Glu131Asp US - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079654 p.Val151Met US rs386134193 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079655 p.Arg169Pro LP/P - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079656 p.Val175Met LP/P rs781721860 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079657 p.Met205Arg LP/P rs796052033 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079658 p.Asn210Ser LP/P rs386134198 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079659 p.Thr219Lys US - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079660 p.Ser225Leu LP/P rs386134205 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079661 p.Ser231Phe LP/P rs386134206 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079662 p.Pro247Arg LP/P - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079664 p.Arg254Gln US rs200699819 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079666 p.Thr264Met US rs201262157 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079667 p.Leu269Pro US - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079672 p.Glu317Lys US rs774792831 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079674 p.Ile348Thr US rs150544263 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079675 p.Leu363Pro LP/P rs386134214 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079678 p.Ser412Gly US - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079679 p.Val439Gly LP/P - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079680 p.Val448Leu LP/P rs386134219 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079681 p.Gly462Val LP/P - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079682 p.Ser470Phe LP/P rs386134222 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079683 p.Arg471His LP/P rs386134223 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_079684 p.Leu476Arg LP/P - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A6 Q4U2R8 VAR_039682 p.Leu7Pro LB/B rs1415632329 - SLC22A6 Q4U2R8 VAR_039683 p.Arg50His LB/B rs11568626 - SLC22A6 Q4U2R8 VAR_039684 p.Arg293Trp LB/B rs45607933 - SLC22A6 Q4U2R8 VAR_047878 p.Pro104Leu LB/B rs11568627 - SLC22A7 Q9Y694 VAR_047875 p.Arg303Lys LB/B rs70953684 - SLC22A7 Q9Y694 VAR_047876 p.Arg327Trp LB/B rs36040909 - SLC22A7 Q9Y694 VAR_047877 p.Gly507Val LB/B rs70953693 - SLC22A8 Q8TCC7 VAR_030146 p.Phe129Leu LB/B rs11568479 - SLC22A8 Q8TCC7 VAR_030147 p.Arg149Ser LB/B rs45566039 - SLC22A8 Q8TCC7 VAR_030148 p.Ile260Arg LB/B rs11568493 - SLC22A8 Q8TCC7 VAR_030149 p.Arg277Trp LB/B rs11568492 - SLC22A8 Q8TCC7 VAR_030150 p.Val281Ala LB/B rs45438191 - SLC22A8 Q8TCC7 VAR_030151 p.Ile305Phe LB/B rs11568482 - SLC22A8 Q8TCC7 VAR_030152 p.Ala389Val LB/B rs749944923 - SLC22A8 Q8TCC7 VAR_030153 p.Val448Ile LB/B rs11568486 - SLC22A9 Q8IVM8 VAR_036403 p.Ala393Val US - A breast cancer sample SLC22A9 Q8IVM8 VAR_036404 p.Met487Val US - A breast cancer sample SLC22A9 Q8IVM8 VAR_036405 p.Asn521Lys US rs770073076 A colorectal cancer sample SLC23A1 Q9UHI7 VAR_053451 p.Ile218Val LB/B rs34521685 - SLC23A1 Q9UHI7 VAR_053452 p.Met258Val LB/B rs35817838 - SLC23A1 Q9UHI7 VAR_053453 p.Val264Met LB/B rs33972313 - SLC23A1 Q9UHI7 VAR_062111 p.Ala421Ser LB/B rs6596474 - SLC24A1 O60721 VAR_050221 p.Thr37Ser LB/B rs3743171 - SLC24A1 O60721 VAR_050222 p.Val311Leu LB/B rs34363823 - SLC24A1 O60721 VAR_050223 p.Leu313Val LB/B rs35571449 - SLC24A3 Q9HC58 VAR_028024 p.Leu49Pro LB/B rs3790174 - SLC24A3 Q9HC58 VAR_028025 p.Val55Ile LB/B rs1569767 - SLC24A3 Q9HC58 VAR_028026 p.Val168Ile LB/B rs3790267 - SLC24A3 Q9HC58 VAR_028027 p.Gly271Ser LB/B rs6136807 - SLC24A4 Q8NFF2 VAR_042664 p.Val613Ile LB/B rs4900130 - SLC24A4 Q8NFF2 VAR_070183 p.Ser499Cys LP/P rs587777536 Amelogenesis imperfecta, hypomaturation type, 2A5 (AI2A5) [MIM:615887] SLC24A4 Q8NFF2 VAR_071475 p.Ala146Val LP/P rs587777537 Amelogenesis imperfecta, hypomaturation type, 2A5 (AI2A5) [MIM:615887] SLC24A5 Q71RS6 VAR_024922 p.Thr111Ala LB/B rs1426654 - SLC25A1 P53007 VAR_069490 p.Pro45Leu LP/P - Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A1 P53007 VAR_069491 p.Glu144Gln LP/P - Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A1 P53007 VAR_069492 p.Gly167Arg LP/P - Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A1 P53007 VAR_069493 p.Ser193Trp LP/P rs781925968 Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A1 P53007 VAR_069494 p.Met202Thr LP/P rs782335811 Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A1 P53007 VAR_069495 p.Arg282Cys LP/P rs431905509 Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A1 P53007 VAR_069496 p.Arg282Gly LP/P rs431905509 Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A1 P53007 VAR_069497 p.Tyr297Cys LP/P - Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A1 P53007 VAR_077511 p.Arg198His LP/P rs1331417017 Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A1 P53007 VAR_081661 p.Ala28Thr US - Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A1 P53007 VAR_081662 p.Ile40Asn LP/P - Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A1 P53007 VAR_081663 p.Glu47Lys LP/P rs1555923307 Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A1 P53007 VAR_081664 p.Gly93Asp LP/P - Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A1 P53007 VAR_081665 p.Gly130Asp LP/P rs368647424 Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A1 P53007 VAR_081666 p.Asn238Ser LP/P - Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A1 P53007 VAR_081667 p.Arg247Gln LP/P rs781908532 Myasthenic syndrome, congenital, 23, presynaptic (CMS23) [MIM:618197] SLC25A1 P53007 VAR_081669 p.Cys262Arg LP/P - Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A1 P53007 VAR_081670 p.Arg282His LP/P rs431905510 Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] SLC25A11 Q02978 VAR_082966 p.Glu141Lys LP/P rs1567651815 Pheochromocytoma/paraganglioma syndrome 6 (PPGL6) [MIM:618464] SLC25A11 Q02978 VAR_082967 p.Met147Val LP/P rs1203876038 Pheochromocytoma/paraganglioma syndrome 6 (PPGL6) [MIM:618464] SLC25A11 Q02978 VAR_082968 p.Pro239Thr LP/P rs1567650859 Pheochromocytoma/paraganglioma syndrome 6 (PPGL6) [MIM:618464] SLC25A12 O75746 VAR_047917 p.Arg473Gln LB/B rs35565687 - SLC25A12 O75746 VAR_063253 p.Gln590Arg LP/P rs121434396 Developmental and epileptic encephalopathy 39 with leukodystrophy (DEE39) [MIM:612949] SLC25A12 O75746 VAR_071976 p.Arg353Gln LP/P rs886037851 Developmental and epileptic encephalopathy 39 with leukodystrophy (DEE39) [MIM:612949] SLC25A13 Q9UJS0 VAR_016601 p.Glu601Lys LP/P rs80338727 Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD) [MIM:605814] SLC25A13 Q9UJS0 VAR_050126 p.Glu141Lys LB/B rs1131697 - SLC25A13 Q9UJS0 VAR_050127 p.Leu232Ile LB/B rs10255762 - SLC25A14 O95258 VAR_050138 p.Glu55Ala LB/B rs2143598 - SLC25A15 Q9Y619 VAR_012757 p.Gly27Glu LP/P rs1208994024 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970] SLC25A15 Q9Y619 VAR_012758 p.Gly27Arg LP/P rs104894430 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970] SLC25A15 Q9Y619 VAR_012759 p.Pro126Arg LP/P - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970] SLC25A15 Q9Y619 VAR_012760 p.Glu180Lys LP/P rs104894424 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970] SLC25A15 Q9Y619 VAR_012762 p.Gly190Asp LP/P rs202247804 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970] SLC25A15 Q9Y619 VAR_012763 p.Ile254Leu LB/B rs17849654 - SLC25A15 Q9Y619 VAR_012764 p.Arg275Gln LP/P rs104894431 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970] SLC25A15 Q9Y619 VAR_058948 p.Met37Arg LP/P rs121908533 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970] SLC25A15 Q9Y619 VAR_058949 p.Ala70Leu US rs1064793683 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970] SLC25A15 Q9Y619 VAR_058950 p.Leu71Gln LP/P rs121908534 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970] SLC25A15 Q9Y619 VAR_058951 p.Gly113Cys LP/P rs199894905 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970] SLC25A15 Q9Y619 VAR_058952 p.Phe188Leu LP/P rs141028076 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970] SLC25A15 Q9Y619 VAR_058953 p.Gly216Ser LP/P rs1417167600 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970] SLC25A15 Q9Y619 VAR_058954 p.Thr272Ile LP/P rs121908535 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970] SLC25A15 Q9Y619 VAR_058955 p.Met273Lys LP/P rs202247808 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970] SLC25A15 Q9Y619 VAR_058956 p.Leu283Phe LP/P rs202247809 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970] SLC25A15 Q9Y619 VAR_087078 p.Ala15Val LP/P rs202247806 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) [MIM:238970] SLC25A17 O43808 VAR_050139 p.His98Arg LB/B rs12159334 - SLC25A19 Q9HC21 VAR_014103 p.Gly177Ala LP/P rs119473030 Microcephaly, Amish type (MCPHA) [MIM:607196] SLC25A19 Q9HC21 VAR_065125 p.Gly125Ser LP/P rs387906944 Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4) [MIM:613710] SLC25A19 Q9HC21 VAR_087311 p.Gln192His LP/P - Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4) [MIM:613710] SLC25A2 Q9BXI2 VAR_017248 p.Gly159Cys LB/B rs10075302 - SLC25A2 Q9BXI2 VAR_017249 p.Val181Gly LB/B rs3749779 - SLC25A2 Q9BXI2 VAR_017250 p.Val226Ile LB/B rs3749780 - SLC25A20 O43772 VAR_021818 p.Arg133Trp LP/P rs748394731 Carnitine-acylcarnitine translocase deficiency (CACTD) [MIM:212138] SLC25A20 O43772 VAR_021819 p.Asp231His LP/P rs577331691 Carnitine-acylcarnitine translocase deficiency (CACTD) [MIM:212138] SLC25A20 O43772 VAR_021820 p.Gln238Arg LP/P rs28934589 Carnitine-acylcarnitine translocase deficiency (CACTD) [MIM:212138] SLC25A21 Q9BQT8 VAR_050131 p.Trp299Cys LB/B rs17104991 - SLC25A21 Q9BQT8 VAR_083870 p.Lys232Arg LP/P rs1389068504 Mitochondrial DNA depletion syndrome 18 (MTDPS18) [MIM:618811] SLC25A22 Q9H936 VAR_022737 p.Pro206Leu LP/P rs121918334 Developmental and epileptic encephalopathy 3 (DEE3) [MIM:609304] SLC25A24 Q6NUK1 VAR_080617 p.Arg217Cys LP/P rs1553253990 Fontaine progeroid syndrome (FPS) [MIM:612289] SLC25A24 Q6NUK1 VAR_080618 p.Arg217His LP/P rs1553253989 Fontaine progeroid syndrome (FPS) [MIM:612289] SLC25A25 Q6KCM7 VAR_087883 p.Gln315His US rs140777921 - SLC25A26 Q70HW3 VAR_058973 p.Thr208Met LB/B rs13874 - SLC25A26 Q70HW3 VAR_076305 p.Ala102Val LP/P rs869025314 Combined oxidative phosphorylation deficiency 28 (COXPD28) [MIM:616794] SLC25A26 Q70HW3 VAR_076306 p.Val148Gly LP/P rs869025313 Combined oxidative phosphorylation deficiency 28 (COXPD28) [MIM:616794] SLC25A26 Q70HW3 VAR_076307 p.Pro199Leu LP/P rs869025315 Combined oxidative phosphorylation deficiency 28 (COXPD28) [MIM:616794] SLC25A26 Q70HW3 VAR_080244 p.Ser41Asn LB/B rs146159281 - SLC25A26 Q70HW3 VAR_087910 p.Glu135Gly US - Combined oxidative phosphorylation deficiency 28 (COXPD28) [MIM:616794] SLC25A26 Q70HW3 VAR_087911 p.Arg142Gln US - Combined oxidative phosphorylation deficiency 28 (COXPD28) [MIM:616794] SLC25A27 O95847 VAR_050137 p.Ile197Thr LB/B rs35884480 - SLC25A27 O95847 VAR_069101 p.Ala145Val LB/B rs17853162 - SLC25A3 Q00325 VAR_032850 p.Gly72Glu LP/P rs104894375 Mitochondrial phosphate carrier deficiency (MPCD) [MIM:610773] SLC25A31 Q9H0C2 VAR_074177 p.Lys303Glu LB/B - - SLC25A32 Q9H2D1 VAR_050130 p.Arg117His LB/B rs17803441 - SLC25A32 Q9H2D1 VAR_076364 p.Arg147His LP/P rs142329098 Exercise intolerance, riboflavin-responsive (RREI) [MIM:616839] SLC25A32 Q9H2D1 VAR_082961 p.Gly55Val US rs1332049392 Neural tube defects (NTD) [MIM:182940] SLC25A32 Q9H2D1 VAR_082962 p.Thr71Ala US rs564720045 Neural tube defects (NTD) [MIM:182940] SLC25A32 Q9H2D1 VAR_082963 p.Ala128Thr US - Neural tube defects (NTD) [MIM:182940] SLC25A32 Q9H2D1 VAR_082965 p.Ser260Asn US - Neural tube defects (NTD) [MIM:182940] SLC25A32 Q9H2D1 VAR_088373 p.Tyr174Cys LP/P rs1563717284 Exercise intolerance, riboflavin-responsive (RREI) [MIM:616839] SLC25A32 Q9H2D1 VAR_088374 p.Lys235Arg LP/P rs1816220699 Exercise intolerance, riboflavin-responsive (RREI) [MIM:616839] SLC25A33 Q9BSK2 VAR_032861 p.Leu242Ile LB/B rs35819756 - SLC25A37 Q9NYZ2 VAR_043144 p.Ile87Val LB/B rs2942194 - SLC25A37 Q9NYZ2 VAR_043145 p.Arg96Gln LB/B rs3736032 - SLC25A38 Q96DW6 VAR_032862 p.Arg66Gly LB/B rs34127778 - SLC25A38 Q96DW6 VAR_058093 p.Gly130Glu LP/P rs762562272 Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2) [MIM:205950] SLC25A38 Q96DW6 VAR_058094 p.Arg134His LP/P - Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2) [MIM:205950] SLC25A38 Q96DW6 VAR_058095 p.Arg187Pro LP/P rs121918331 Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2) [MIM:205950] SLC25A38 Q96DW6 VAR_058096 p.Asp209His LP/P rs146864395 Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2) [MIM:205950] SLC25A39 Q9BZJ4 VAR_012756 p.Phe247Leu LB/B rs2011951 - SLC25A4 P12235 VAR_012111 p.Ala114Pro LP/P rs104893873 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283] SLC25A4 P12235 VAR_012112 p.Val289Met LP/P rs104893874 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283] SLC25A4 P12235 VAR_022459 p.Leu98Pro LP/P rs104893876 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283] SLC25A4 P12235 VAR_022460 p.Asp104Gly LP/P rs28999114 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283] SLC25A4 P12235 VAR_038814 p.Ala90Asp LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283] SLC25A4 P12235 VAR_038815 p.Ala123Asp LP/P rs121912683 Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type (MTDPS12B) [MIM:615418] SLC25A4 P12235 VAR_078071 p.Arg80His LP/P rs886041081 Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type (MTDPS12A) [MIM:617184] SLC25A4 P12235 VAR_078072 p.Arg235Gly LP/P rs886041082 Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type (MTDPS12A) [MIM:617184] SLC25A4 P12235 VAR_078073 p.Arg236Pro LP/P rs770816416 Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type (MTDPS12B) [MIM:615418] SLC25A40 Q8TBP6 VAR_032863 p.Thr123Ile LB/B rs724665 - SLC25A40 Q8TBP6 VAR_032864 p.Lys186Gln LB/B rs3213633 - SLC25A40 Q8TBP6 VAR_079372 p.Ser105Asn LB/B rs200954020 - SLC25A41 Q8N5S1 VAR_050132 p.Gly144Ser LB/B rs34488963 - SLC25A41 Q8N5S1 VAR_050133 p.Thr258Ser LB/B rs11883242 - SLC25A42 Q86VD7 VAR_032970 p.Ser39Pro LB/B rs17854359 - SLC25A42 Q86VD7 VAR_032971 p.Leu312Met LB/B rs17854358 - SLC25A42 Q86VD7 VAR_082152 p.Asn291Asp LP/P rs864321624 Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (MECREN) [MIM:618416] SLC25A43 Q8WUT9 VAR_032865 p.Pro334Leu LB/B rs3810755 - SLC25A44 Q96H78 VAR_050134 p.Ser52Ile LB/B rs11576750 - SLC25A45 Q8N413 VAR_032866 p.Met224Val LB/B rs624307 - SLC25A45 Q8N413 VAR_050135 p.Arg251Gln LB/B rs7108281 - SLC25A46 Q96AG3 VAR_075818 p.Gly249Asp US rs200725073 Neuropathy, hereditary motor and sensory, 6B, with optic atrophy (HMSN6B) [MIM:616505] SLC25A46 Q96AG3 VAR_075819 p.Pro333Leu LP/P rs1057518750 Neuropathy, hereditary motor and sensory, 6B, with optic atrophy (HMSN6B) [MIM:616505] SLC25A46 Q96AG3 VAR_075820 p.Glu335Asp US rs1057518748 Neuropathy, hereditary motor and sensory, 6B, with optic atrophy (HMSN6B) [MIM:616505] SLC25A46 Q96AG3 VAR_075821 p.Arg340Cys LP/P rs746681765 Neuropathy, hereditary motor and sensory, 6B, with optic atrophy (HMSN6B) [MIM:616505] SLC25A46 Q96AG3 VAR_085719 p.Leu138Arg US rs1057519295 Neuropathy, hereditary motor and sensory, 6B, with optic atrophy (HMSN6B) [MIM:616505] SLC25A46 Q96AG3 VAR_085720 p.Thr142Ile LP/P rs1057519296 Pontocerebellar hypoplasia 1E (PCH1E) [MIM:619303] SLC25A46 Q96AG3 VAR_085723 p.Leu341Pro LP/P rs1057519294 Pontocerebellar hypoplasia 1E (PCH1E) [MIM:619303] SLC25A5 P05141 VAR_030039 p.Leu111Arg LB/B rs371749 - SLC25A51 Q9H1U9 VAR_036333 p.Thr205Met US rs780199922 A breast cancer sample SLC25A52 Q3SY17 VAR_060299 p.Leu239Ile LB/B rs3859364 - SLC25A6 P12236 VAR_054819 p.Ser242Phe LB/B - - SLC26A1 Q9H2B4 VAR_046727 p.Gln556Arg LB/B rs3796622 - SLC26A1 Q9H2B4 VAR_077134 p.Ala56Thr US rs142573758 Nephrolithiasis, calcium oxalate, 1 (CAON1) [MIM:167030] SLC26A1 Q9H2B4 VAR_077135 p.Thr185Met LP/P rs139024319 Nephrolithiasis, calcium oxalate, 1 (CAON1) [MIM:167030] SLC26A1 Q9H2B4 VAR_077136 p.Ser358Leu LP/P rs148832260 Nephrolithiasis, calcium oxalate, 1 (CAON1) [MIM:167030] SLC26A1 Q9H2B4 VAR_088613 p.Pro237Leu US rs778482338 - SLC26A1 Q9H2B4 VAR_088614 p.Leu275Pro US - Hypersulfaturia (HYSULF) [MIM:620372] SLC26A1 Q9H2B4 VAR_088615 p.Leu348Pro LB/B rs148386572 - SLC26A1 Q9H2B4 VAR_088616 p.Pro461Leu US rs376705237 - SLC26A1 Q9H2B4 VAR_088617 p.Arg515Cys US rs375537240 - SLC26A10P Q8NG04 VAR_045599 p.Met130Thr LB/B rs971209 - SLC26A10P Q8NG04 VAR_045600 p.Ala193Thr LB/B rs923828 - SLC26A10P Q8NG04 VAR_045601 p.Leu546Val LB/B rs774895 - SLC26A10P Q8NG04 VAR_045678 p.Leu270Ser US - A colorectal cancer sample SLC26A11 Q86WA9 VAR_068239 p.Tyr122Cys LB/B rs765188926 - SLC26A2 P50443 VAR_007434 p.Gly255Glu LP/P rs104893917 Atelosteogenesis 2 (AO2) [MIM:256050] SLC26A2 P50443 VAR_007435 p.Arg279Trp LP/P rs104893915 Atelosteogenesis 2 (AO2) [MIM:256050] SLC26A2 P50443 VAR_007435 p.Arg279Trp LP/P rs104893915 Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900] SLC26A2 P50443 VAR_007437 p.Asn425Asp LP/P rs104893920 Achondrogenesis 1B (ACG1B) [MIM:600972] SLC26A2 P50443 VAR_007438 p.Gly678Val LP/P rs104893916 Achondrogenesis 1B (ACG1B) [MIM:600972] SLC26A2 P50443 VAR_007439 p.Ala715Val LP/P rs104893918 Atelosteogenesis 2 (AO2) [MIM:256050] SLC26A2 P50443 VAR_007439 p.Ala715Val LP/P rs104893918 Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900] SLC26A2 P50443 VAR_018654 p.Gln454Pro LB/B rs104893921 - SLC26A2 P50443 VAR_018655 p.Cys653Ser LP/P rs104893924 Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900] SLC26A2 P50443 VAR_020402 p.Thr689Ser LB/B rs3776070 - SLC26A2 P50443 VAR_058415 p.Ile574Thr LB/B rs30832 - SLC26A2 P50443 VAR_066835 p.Phe256Ser LP/P rs1419613966 Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900] SLC26A3 P40879 VAR_007428 p.Gly120Ser LP/P rs386833479 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_007429 p.His124Leu LP/P rs121913030 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_007430 p.Pro131Arg LP/P rs386833481 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_007431 p.Cys307Trp LB/B rs34407351 - SLC26A3 P40879 VAR_012777 p.Ser206Pro LP/P rs386833488 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_012778 p.Asp468Val LP/P rs386833454 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_053660 p.Arg68Gln LB/B rs10280704 - SLC26A3 P40879 VAR_053661 p.Arg554Gln LB/B rs2301635 - SLC26A3 P40879 VAR_053662 p.Asn753Ser LB/B rs35342296 - SLC26A3 P40879 VAR_066062 p.Pro129Leu LP/P rs386833480 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_066063 p.Pro131Leu LP/P rs386833481 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_066064 p.Met136Ile LP/P rs386833483 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_066065 p.Tyr204Asp LP/P rs386833487 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_066066 p.His220Pro LP/P rs386833489 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_066067 p.Cys343Tyr LP/P rs386833444 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_066069 p.Gly379Ala LP/P rs386833446 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_066070 p.Ser398Phe LP/P rs143839547 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_066071 p.Leu496Arg LP/P rs386833457 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_066072 p.Tyr520Cys LP/P rs386833462 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_066073 p.Lys521Asn LP/P rs386833463 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_066074 p.Ile544Asn LP/P rs386833467 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_066075 p.Asp652Asn LP/P rs140426439 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_077354 p.Ser134Asn LP/P - Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_077355 p.Arg175Ser LP/P rs386833484 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_077356 p.Ser394Ile LP/P rs1228273365 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_077357 p.Ser438Pro LP/P rs763669046 Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_077358 p.Gln495Pro LP/P - Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_077359 p.Cys508Arg LP/P - Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_077360 p.Ala547Glu LP/P - Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_077361 p.Ser654Pro LP/P - Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] SLC26A4 O43511 VAR_007440 p.Gly209Val LP/P rs111033303 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_007440 p.Gly209Val LP/P rs111033303 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_007441 p.Leu236Pro LP/P rs80338848 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_007441 p.Leu236Pro LP/P rs80338848 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_007442 p.Lys369Glu LP/P rs121908361 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_007443 p.Ala372Val LP/P rs121908364 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_007444 p.Glu384Gly US rs111033244 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_007445 p.Thr416Pro LP/P rs28939086 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_007445 p.Thr416Pro LP/P rs28939086 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_007446 p.Gly497Ser LP/P rs111033308 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_007447 p.Phe667Cys LP/P rs121908360 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_007448 p.Thr721Met LP/P rs121908363 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_007448 p.Thr721Met LP/P rs121908363 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_007449 p.His723Arg LP/P rs121908362 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_007449 p.His723Arg LP/P rs121908362 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_011623 p.Thr193Ile LP/P rs111033348 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_011624 p.Leu445Trp US rs111033307 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_011624 p.Leu445Trp US rs111033307 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021638 p.Arg24Gly LB/B rs1268256689 - SLC26A4 O43511 VAR_021639 p.Ser28Arg LP/P rs539699299 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021639 p.Ser28Arg LP/P rs539699299 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021640 p.Glu29Gln LP/P rs111033205 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021641 p.Tyr78Cys LP/P - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021642 p.Ser90Leu LP/P rs370588279 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021643 p.Gly102Arg LP/P rs1219724284 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021644 p.Ala104Val LB/B rs1203167658 - SLC26A4 O43511 VAR_021645 p.Tyr105Cys LP/P rs1442599990 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021646 p.Ala106Asp LP/P - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021647 p.Leu117Phe LP/P rs145254330 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021647 p.Leu117Phe LP/P rs145254330 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021648 p.Thr132Ile LP/P rs1554354370 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021649 p.Ser133Thr LP/P rs121908365 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021650 p.Ser137Pro LP/P rs1554354382 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021651 p.Val138Phe LP/P rs111033199 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021652 p.Gly139Ala LP/P - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021653 p.Val239Asp LP/P rs111033256 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021653 p.Val239Asp LP/P rs111033256 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021654 p.Ser252Pro LP/P rs1315422549 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021655 p.Asp271His LP/P - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021656 p.Phe335Leu LP/P rs111033212 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021656 p.Phe335Leu LP/P rs111033212 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021657 p.Ser391Asn LP/P - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021658 p.Asn392Tyr LP/P rs201562855 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021659 p.Arg409His LP/P rs111033305 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021660 p.Arg409Pro LP/P rs111033305 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021661 p.Thr410Met LP/P rs111033220 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021661 p.Thr410Met LP/P rs111033220 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021662 p.Ala411Pro LP/P rs1293971731 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021663 p.Gln421Arg LB/B rs201660407 - SLC26A4 O43511 VAR_021665 p.Gln446Arg LP/P rs768471577 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021665 p.Gln446Arg LP/P rs768471577 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021666 p.Ile455Phe LB/B rs375576481 - SLC26A4 O43511 VAR_021667 p.Asn457Lys LP/P rs1554359670 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021668 p.Val480Asp LP/P - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021669 p.Ile490Leu LP/P rs200511789 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021670 p.Tyr530His LP/P rs111033254 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021671 p.Ser552Ile LP/P - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021672 p.Tyr556Cys LP/P rs763006761 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021672 p.Tyr556Cys LP/P rs763006761 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021673 p.Tyr556His LP/P - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021674 p.Cys565Tyr LP/P rs111033257 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021675 p.Leu597Ser US rs55638457 - SLC26A4 O43511 VAR_021676 p.Val653Ala LP/P rs1554361015 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021677 p.Gly672Glu LP/P rs111033309 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021678 p.Leu676Gln LP/P rs111033318 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021679 p.Phe683Ser LB/B rs1060499808 - SLC26A4 O43511 VAR_021680 p.Ser694Pro LP/P rs981410021 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021681 p.Asp724Asn LP/P rs994170964 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_027238 p.Pro123Ser LP/P rs984967571 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_027239 p.Met147Val LP/P rs760413427 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_027240 p.Thr508Asn LP/P - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_027241 p.Gln514Arg LP/P rs111033316 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_027242 p.Tyr530Ser LP/P rs747636919 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_027242 p.Tyr530Ser LP/P rs747636919 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_027243 p.Val609Gly LB/B rs17154335 - SLC26A4 O43511 VAR_027244 p.Ser666Phe LP/P rs1584337274 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_027245 p.Gly740Ser LB/B rs17154353 - SLC26A4 O43511 VAR_027246 p.Arg776Cys US rs111033255 - SLC26A4 O43511 VAR_053663 p.Pro301Leu LB/B rs34373141 - SLC26A4 O43511 VAR_053664 p.Asn324Tyr LB/B rs36039758 - SLC26A4 O43511 VAR_053665 p.Asp687Tyr LB/B rs35548413 - SLC26A4 O43511 VAR_058580 p.Val402Met LP/P rs397516414 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_058580 p.Val402Met LP/P rs397516414 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_058581 p.Met775Thr LP/P rs1562845849 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_058581 p.Met775Thr LP/P rs1562845849 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_064988 p.Gly6Val LB/B rs111033423 - SLC26A4 O43511 VAR_064989 p.Thr99Met LB/B rs141142414 - SLC26A4 O43511 VAR_064990 p.Val144Ala US rs772023020 - SLC26A4 O43511 VAR_064991 p.Arg185Thr US rs542620119 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_064992 p.Val281Ile LP/P rs727505080 Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_064993 p.Asn558Lys LP/P - Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_079503 p.Ala227Pro LP/P - Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791] SLC26A6 Q9BXS9 VAR_012776 p.Val206Met LB/B rs13324142 - SLC26A7 Q8TE54 VAR_053666 p.Ile215Val LB/B rs16912250 - SLC26A7 Q8TE54 VAR_053667 p.Val381Gly LB/B rs34921316 - SLC26A8 Q96RN1 VAR_039464 p.Val73Met LB/B rs743923 - SLC26A8 Q96RN1 VAR_039465 p.Ile148Val LB/B rs17713154 - SLC26A8 Q96RN1 VAR_039466 p.Ser230Asn LB/B rs17707331 - SLC26A8 Q96RN1 VAR_039467 p.Ile639Val LB/B rs2295852 - SLC26A8 Q96RN1 VAR_070058 p.Arg87Gln LP/P rs140210148 Spermatogenic failure 3 (SPGF3) [MIM:606766] SLC26A8 Q96RN1 VAR_070059 p.Glu812Lys LP/P rs142724470 Spermatogenic failure 3 (SPGF3) [MIM:606766] SLC26A8 Q96RN1 VAR_070060 p.Arg954Cys LP/P rs398123027 Spermatogenic failure 3 (SPGF3) [MIM:606766] SLC26A9 Q7LBE3 VAR_039801 p.Val744Met LB/B rs3811428 - SLC26A9 Q7LBE3 VAR_039802 p.His748Arg LB/B rs16856462 - SLC26A9 Q7LBE3 VAR_068683 p.Tyr70Asn LB/B rs75021701 - SLC26A9 Q7LBE3 VAR_068684 p.Thr127Asn LB/B rs77497889 - SLC26A9 Q7LBE3 VAR_068685 p.Ile384Thr LB/B rs112659452 - SLC26A9 Q7LBE3 VAR_068686 p.Arg575Trp LB/B rs201823199 - SLC26A9 Q7LBE3 VAR_068687 p.Pro606Leu LB/B rs74146719 - SLC26A9 Q7LBE3 VAR_068688 p.Val622Leu LB/B rs34992672 - SLC27A2 O14975 VAR_046533 p.Lys48Gln LB/B rs1648348 - SLC27A3 Q5K4L6 VAR_048241 p.Gly63Ala LB/B rs34527123 - SLC27A3 Q5K4L6 VAR_048242 p.Arg392His LB/B rs35102232 - SLC27A4 Q6P1M0 VAR_023783 p.Gly209Ser LB/B rs2240953 - SLC27A4 Q6P1M0 VAR_063192 p.Ala92Thr LP/P rs137853132 Ichthyosis prematurity syndrome (IPS) [MIM:608649] SLC27A4 Q6P1M0 VAR_063193 p.Ser247Pro LP/P rs137853133 Ichthyosis prematurity syndrome (IPS) [MIM:608649] SLC27A4 Q6P1M0 VAR_063194 p.Gln300Arg LP/P rs137853134 Ichthyosis prematurity syndrome (IPS) [MIM:608649] SLC27A4 Q6P1M0 VAR_063195 p.Arg583His LP/P rs137853135 Ichthyosis prematurity syndrome (IPS) [MIM:608649] SLC27A4 Q6P1M0 VAR_064500 p.Arg374Cys LP/P rs768495407 Ichthyosis prematurity syndrome (IPS) [MIM:608649] SLC27A5 Q9Y2P5 VAR_048243 p.Met50Thr LB/B rs35350976 - SLC27A5 Q9Y2P5 VAR_048244 p.Arg53Trp LB/B rs34415062 - SLC27A6 Q9Y2P4 VAR_048245 p.Leu19Val LB/B rs2526247 - SLC28A1 O00337 VAR_009499 p.Glu34Gly LB/B - - SLC28A1 O00337 VAR_009501 p.Val189Ile LB/B rs2290272 - SLC28A1 O00337 VAR_009502 p.Asn409Ser LB/B rs1174011667 - SLC28A1 O00337 VAR_009503 p.Asp521Asn LB/B rs2242046 - SLC28A1 O00337 VAR_057194 p.Ala190Ser LB/B rs45523532 - SLC28A1 O00337 VAR_057195 p.Gln237Lys LB/B rs8187758 - SLC28A1 O00337 VAR_057196 p.Arg510Cys LB/B rs2242047 - SLC28A1 O00337 VAR_061802 p.Ser546Pro LP/P rs45584739 Uridine-cytidineuria (URCTU) [MIM:618477] SLC28A1 O00337 VAR_082636 p.Arg561Gln LP/P - Uridine-cytidineuria (URCTU) [MIM:618477] SLC28A2 O43868 VAR_022001 p.Leu163Trp LB/B rs2271437 - SLC28A2 O43868 VAR_024639 p.Pro22Leu LB/B rs11854484 - SLC28A2 O43868 VAR_024640 p.Ser75Arg LB/B rs1060896 - SLC28A2 O43868 VAR_024641 p.Ser245Thr LB/B rs10519020 - SLC28A2 O43868 VAR_024642 p.Phe355Ser LB/B rs17215633 - SLC28A2 O43868 VAR_024643 p.Leu462Phe LB/B rs17222057 - SLC28A2 O43868 VAR_028724 p.Gly509Glu LB/B rs9635306 - SLC28A2 O43868 VAR_036817 p.Leu12Pro LB/B rs567096708 - SLC28A2 O43868 VAR_036818 p.Arg142His LB/B rs115740452 - SLC28A2 O43868 VAR_036819 p.Glu172Asp LB/B rs113624548 - SLC28A2 O43868 VAR_036820 p.Glu385Lys LB/B rs376327143 - SLC28A2 O43868 VAR_036821 p.Met612Thr LB/B rs373539209 - SLC28A3 Q9HAS3 VAR_039665 p.Arg4Lys LB/B rs11568401 - SLC28A3 Q9HAS3 VAR_039666 p.Ser5Asn LB/B rs11568403 - SLC28A3 Q9HAS3 VAR_039667 p.Asp62His LB/B rs45621433 - SLC28A3 Q9HAS3 VAR_039668 p.Arg67Lys LB/B rs11568411 - SLC28A3 Q9HAS3 VAR_039669 p.Tyr113Cys LB/B rs10868138 - SLC28A3 Q9HAS3 VAR_039670 p.Leu131Phe LB/B - - SLC28A3 Q9HAS3 VAR_039671 p.Pro221Gln LB/B rs11140503 - SLC28A3 Q9HAS3 VAR_039672 p.Ile328Val LB/B rs11568418 - SLC28A3 Q9HAS3 VAR_039673 p.Arg349Gln LB/B rs45525131 - SLC28A3 Q9HAS3 VAR_039674 p.Gly367Arg LB/B rs11568388 - SLC28A3 Q9HAS3 VAR_039675 p.Leu418Ile LB/B rs11568405 - SLC28A3 Q9HAS3 VAR_039676 p.Tyr513Phe LB/B rs56350726 - SLC28A3 Q9HAS3 VAR_039677 p.Arg585His LB/B rs11568398 - SLC28A3 Q9HAS3 VAR_039678 p.Cys602Arg US - - SLC28A3 Q9HAS3 VAR_070606 p.Ala366Thr LB/B rs140138960 - SLC29A1 Q99808 VAR_036221 p.Ala293Thr US - A colorectal cancer sample SLC29A1 Q99808 VAR_036222 p.Ile455Val US rs767108156 A colorectal cancer sample SLC29A1 Q99808 VAR_053668 p.Ile216Thr LB/B rs45573936 - SLC29A1 Q99808 VAR_053669 p.Glu391Lys LB/B rs45458701 - SLC29A2 Q14542 VAR_029289 p.Asp5Tyr LB/B rs8187643 - SLC29A2 Q14542 VAR_029290 p.Asn68Lys LB/B rs8187644 - SLC29A2 Q14542 VAR_029291 p.Pro94Leu LB/B rs8187648 - SLC29A3 Q9BZD2 VAR_018662 p.Arg18Gly LB/B rs2277257 - SLC29A3 Q9BZD2 VAR_018663 p.Ser158Phe LB/B rs780668 - SLC29A3 Q9BZD2 VAR_018664 p.Val239Ile LB/B rs2252996 - SLC29A3 Q9BZD2 VAR_018665 p.Ile326Val LB/B rs2487068 - SLC29A3 Q9BZD2 VAR_018666 p.Val452Glu LB/B rs999940 - SLC29A3 Q9BZD2 VAR_057884 p.Gly427Ser LP/P rs121912583 Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782] SLC29A3 Q9BZD2 VAR_057885 p.Gly437Arg LP/P rs121912584 Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782] SLC29A3 Q9BZD2 VAR_067801 p.Met116Arg LP/P rs267607057 Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782] SLC29A3 Q9BZD2 VAR_067802 p.Arg134Cys LP/P rs1430557607 Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782] SLC29A3 Q9BZD2 VAR_067803 p.Gly163Val LB/B rs143557881 - SLC29A3 Q9BZD2 VAR_067804 p.Ser184Arg LP/P rs1023257012 Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782] SLC29A3 Q9BZD2 VAR_067805 p.Leu281Pro LB/B rs79737301 - SLC29A3 Q9BZD2 VAR_067806 p.Arg363Gln LP/P rs387907066 Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782] SLC29A3 Q9BZD2 VAR_067807 p.Arg363Trp LP/P rs387907067 Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782] SLC29A3 Q9BZD2 VAR_067808 p.Val407Met LB/B rs144517514 - SLC29A3 Q9BZD2 VAR_067809 p.Thr449Arg LP/P rs267607058 Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782] SLC29A4 Q7RTT9 VAR_040044 p.Val79Glu LB/B rs17854505 - SLC29A4 Q7RTT9 VAR_040045 p.Asn124Lys LB/B rs17855675 - SLC29A4 Q7RTT9 VAR_040046 p.Pro429Thr LB/B rs17857336 - SLC2A1 P11166 VAR_013182 p.Gly91Asp LP/P rs80359814 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_013183 p.Arg126His LP/P rs80359816 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_013184 p.Arg126Leu LP/P rs80359816 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_013185 p.Lys256Glu LP/P rs121909738 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_013283 p.Ser66Phe LP/P rs80359813 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_013284 p.Glu146Lys LP/P rs80359820 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_013285 p.Thr310Ile LP/P rs80359824 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_013286 p.Arg333Trp LP/P rs80359825 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_054755 p.Asn34Ile LP/P rs80359812 GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_054756 p.Asn34Ser LP/P rs80359812 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_054757 p.Arg126Cys LP/P rs80359818 Dystonia 9 (DYT9) [MIM:601042] SLC2A1 P11166 VAR_054757 p.Arg126Cys LP/P rs80359818 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_054757 p.Arg126Cys LP/P rs80359818 GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_054758 p.Gly130Ser LP/P rs80359819 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_054759 p.Arg153Cys LP/P - GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_054761 p.Ala275Thr LP/P rs121909740 GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_054763 p.Thr295Met LP/P rs80359823 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_054764 p.Gly314Ser LP/P rs121909739 GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_065206 p.Asn34Tyr LP/P - GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065207 p.Arg93Trp LP/P rs267607061 GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_065208 p.Ser95Ile LP/P rs267607060 GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_065209 p.Met96Val LP/P rs753161833 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065210 p.Arg153His LP/P rs794727642 GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_065211 p.Ala155Val LP/P - GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065212 p.Val165Ile LP/P rs1057520545 GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_065213 p.Arg212Cys LP/P rs387907312 Dystonia 9 (DYT9) [MIM:601042] SLC2A1 P11166 VAR_065213 p.Arg212Cys LP/P rs387907312 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065214 p.Arg212His LP/P rs886039517 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065215 p.Arg223Pro LP/P rs397514564 Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847] SLC2A1 P11166 VAR_065216 p.Arg223Trp LP/P rs796053248 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065217 p.Val303Leu LB/B rs1205631854 - SLC2A1 P11166 VAR_065218 p.Asn317Thr LP/P - GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_065219 p.Ser324Leu LP/P rs796053253 GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_065220 p.Glu329Gln LP/P - GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065221 p.Arg333Gln LP/P rs1553155986 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065221 p.Arg333Gln LP/P rs1553155986 GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_065222 p.Gly382Asp LP/P - GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065223 p.Ala405Asp LP/P - GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065224 p.Pro485Leu LP/P - GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065784 p.Ser294Pro LP/P - GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_069077 p.Arg92Trp LP/P rs202060209 GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_069078 p.Arg232Cys LP/P rs387907313 Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847] SLC2A1 P11166 VAR_069080 p.Arg468Trp LP/P rs267607059 GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_076226 p.Arg51His US rs201815571 Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847] SLC2A1 P11166 VAR_076227 p.Thr60Met US rs142986731 Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847] SLC2A1 P11166 VAR_076228 p.Met77Thr LP/P rs1187210267 Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847] SLC2A1 P11166 VAR_076229 p.Pro149Ala US - Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847] SLC2A1 P11166 VAR_076230 p.Arg218Ser LP/P - Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847] SLC2A1 P11166 VAR_076231 p.Arg223Gln US rs397514564 Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847] SLC2A1 P11166 VAR_076232 p.Glu243Val LP/P - Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847] SLC2A1 P11166 VAR_076233 p.Gly286Asp LP/P rs864309514 Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN) [MIM:608885] SLC2A1 P11166 VAR_076234 p.Asn411Ser LP/P rs398123069 Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847] SLC2A1 P11166 VAR_076236 p.Arg458Trp LP/P rs13306758 Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847] SLC2A10 O95528 VAR_024652 p.Thr518Ala LB/B rs6018008 - SLC2A10 O95528 VAR_029335 p.Ala206Thr LB/B rs2235491 - SLC2A10 O95528 VAR_029535 p.Ser81Arg LP/P rs80358230 Arterial tortuosity syndrome (ATORS) [MIM:208050] SLC2A10 O95528 VAR_029536 p.Ala106Ser LB/B rs6094438 - SLC2A10 O95528 VAR_029537 p.Ile537Val LB/B rs7348121 - SLC2A10 O95528 VAR_042417 p.Arg132Trp LP/P rs121908173 Arterial tortuosity syndrome (ATORS) [MIM:208050] SLC2A10 O95528 VAR_042418 p.Gly142Val LP/P rs864309480 Arterial tortuosity syndrome (ATORS) [MIM:208050] SLC2A10 O95528 VAR_042419 p.Arg225His LB/B rs34295241 - SLC2A10 O95528 VAR_042420 p.Arg231Gln LP/P rs771028960 Arterial tortuosity syndrome (ATORS) [MIM:208050] SLC2A10 O95528 VAR_042421 p.Gly246Glu LP/P rs564317065 Arterial tortuosity syndrome (ATORS) [MIM:208050] SLC2A10 O95528 VAR_042422 p.Gly426Trp LP/P rs121908172 Arterial tortuosity syndrome (ATORS) [MIM:208050] SLC2A10 O95528 VAR_042423 p.Glu437Lys LP/P rs763220502 Arterial tortuosity syndrome (ATORS) [MIM:208050] SLC2A10 O95528 VAR_042424 p.Gly445Glu LP/P rs753723351 Arterial tortuosity syndrome (ATORS) [MIM:208050] SLC2A11 Q9BYW1 VAR_046704 p.Asp60Asn LB/B rs7292659 - SLC2A11 Q9BYW1 VAR_046705 p.Arg232Gln LB/B rs9608213 - SLC2A11 Q9BYW1 VAR_046706 p.Ile420Phe LB/B rs34096096 - SLC2A11 Q9BYW1 VAR_061881 p.Arg301Gln LB/B rs36015336 - SLC2A11 Q9BYW1 VAR_061882 p.Lys469Glu LB/B rs60882514 - SLC2A14 Q8TDB8 VAR_059852 p.Gly506Glu LB/B rs10845981 - SLC2A2 P11168 VAR_007169 p.Pro68Leu LB/B rs7637863 - SLC2A2 P11168 VAR_014718 p.Val101Ile LB/B rs1800572 - SLC2A2 P11168 VAR_014719 p.Thr110Ile LB/B rs5400 - SLC2A2 P11168 VAR_014720 p.Leu478Val LB/B rs5397 - SLC2A2 P11168 VAR_018650 p.Val197Ile LB/B rs121909741 - SLC2A2 P11168 VAR_018651 p.Leu389Pro LP/P rs121909747 Fanconi-Bickel syndrome (FBS) [MIM:227810] SLC2A2 P11168 VAR_018652 p.Pro417Leu LP/P rs121909744 Fanconi-Bickel syndrome (FBS) [MIM:227810] SLC2A2 P11168 VAR_018653 p.Val423Glu LP/P rs28928874 Fanconi-Bickel syndrome (FBS) [MIM:227810] SLC2A2 P11168 VAR_052501 p.Ile404Thr LB/B rs2229608 - SLC2A3 P11169 VAR_052502 p.Val85Leu LB/B rs17728193 - SLC2A4 P14672 VAR_007170 p.Val383Ile LP/P rs121434581 Type 2 diabetes mellitus (T2D) [MIM:125853] SLC2A4 P14672 VAR_007171 p.Ile385Thr LB/B rs775242206 - SLC2A4 P14672 VAR_012060 p.Thr78Ser LB/B rs5434 - SLC2A4 P14672 VAR_020336 p.Ala358Val LB/B rs8192702 - SLC2A4 P14672 VAR_052503 p.Ser55Arg LB/B rs35198331 - SLC2A4RG Q9NR83 VAR_025005 p.Glu233Asp LB/B rs8957 - SLC2A5 P22732 VAR_081827 p.Ile296Val LB/B rs1451503051 - SLC2A6 Q9UGQ3 VAR_025426 p.Thr500Met LB/B rs3094378 - SLC2A7 Q6PXP3 VAR_052504 p.Val135Ile LB/B rs34545462 - SLC2A7 Q6PXP3 VAR_061879 p.Arg261Gln LB/B rs12402973 - SLC2A8 Q9NY64 VAR_061880 p.Ile253Thr LB/B rs34064803 - SLC2A9 Q9NRM0 VAR_012157 p.Gly25Arg LB/B rs2276961 - SLC2A9 Q9NRM0 VAR_012158 p.Val282Ile LB/B rs16890979 - SLC2A9 Q9NRM0 VAR_012159 p.Pro350Leu LB/B rs2280205 - SLC2A9 Q9NRM0 VAR_020337 p.Arg294His LB/B rs3733591 - SLC2A9 Q9NRM0 VAR_045648 p.Ser22Asn LB/B - - SLC2A9 Q9NRM0 VAR_045649 p.Glu191Asp LB/B rs376990050 - SLC2A9 Q9NRM0 VAR_045650 p.Gly216Arg LP/P rs561633150 Hypouricemia renal 2 (RHUC2) [MIM:612076] SLC2A9 Q9NRM0 VAR_045651 p.Thr275Met LB/B rs112404957 - SLC2A9 Q9NRM0 VAR_045652 p.Asp281His LB/B rs73225891 - SLC2A9 Q9NRM0 VAR_045653 p.Arg300His LB/B rs145688560 - SLC2A9 Q9NRM0 VAR_065772 p.Leu75Arg LP/P rs863225072 Hypouricemia renal 2 (RHUC2) [MIM:612076] SLC2A9 Q9NRM0 VAR_065773 p.Thr125Met LP/P rs181509591 Hypouricemia renal 2 (RHUC2) [MIM:612076] SLC2A9 Q9NRM0 VAR_065774 p.Arg171Cys US rs776127501 Hypouricemia renal 2 (RHUC2) [MIM:612076] SLC2A9 Q9NRM0 VAR_065775 p.Arg198Cys LP/P rs121908322 Hypouricemia renal 2 (RHUC2) [MIM:612076] SLC2A9 Q9NRM0 VAR_065776 p.Arg380Trp LP/P rs121908321 Hypouricemia renal 2 (RHUC2) [MIM:612076] SLC2A9 Q9NRM0 VAR_075343 p.Val169Met LB/B rs144196049 - SLC2A9 Q9NRM0 VAR_086380 p.Asn333Ser LP/P rs753482595 Hypouricemia renal 2 (RHUC2) [MIM:612076] SLC2A9 Q9NRM0 VAR_086381 p.Pro412Arg US rs121908323 Hypouricemia renal 2 (RHUC2) [MIM:612076] SLC30A10 Q6XR72 VAR_072573 p.Leu89Pro LP/P rs281860284 Hypermanganesemia with dystonia 1 (HMNDYT1) [MIM:613280] SLC30A10 Q6XR72 VAR_072575 p.Phe167Ser LB/B rs281860286 - SLC30A10 Q6XR72 VAR_072577 p.Leu349Pro LP/P rs281860291 Hypermanganesemia with dystonia 1 (HMNDYT1) [MIM:613280] SLC30A2 Q9BRI3 VAR_069309 p.His54Arg LP/P rs587776926 Zinc deficiency, transient neonatal (TNZD) [MIM:608118] SLC30A2 Q9BRI3 VAR_069310 p.Gly87Arg LP/P rs185398527 Zinc deficiency, transient neonatal (TNZD) [MIM:608118] SLC30A3 Q99726 VAR_077209 p.Arg298Cys LB/B rs146572471 - SLC30A8 Q8IWU4 VAR_031258 p.Arg325Gln LB/B rs16889462 - SLC30A8 Q8IWU4 VAR_031259 p.Arg325Trp LB/B rs13266634 - SLC30A9 Q6PML9 VAR_052003 p.Met50Val LB/B rs1047626 - SLC30A9 Q6PML9 VAR_052004 p.Thr97Ala LB/B rs2581423 - SLC30A9 Q6PML9 VAR_052005 p.Leu353Ser LB/B rs1801962 - SLC31A1 O15431 VAR_029338 p.Pro25Ala LB/B rs2233915 - SLC31A1 O15431 VAR_088353 p.Leu79Pro US - Neurodegeneration and seizures due to copper transport defect (NSCT) [MIM:620306] SLC31A1 O15431 VAR_088354 p.Arg95His US - Neurodegeneration and seizures due to copper transport defect (NSCT) [MIM:620306] SLC32A1 Q9H598 VAR_048121 p.Ser423Gly LB/B rs34517228 - SLC33A1 O00400 VAR_035776 p.Val400Ala US - A colorectal cancer sample SLC33A1 O00400 VAR_050631 p.Asp171Gly LB/B rs3804769 - SLC33A1 O00400 VAR_054850 p.Ser113Arg LP/P rs121909484 Spastic paraplegia 42, autosomal dominant (SPG42) [MIM:612539] SLC33A1 O00400 VAR_067915 p.Ala110Pro LP/P rs281875283 Huppke-Brendel syndrome (HPBDS) [MIM:614482] SLC34A1 Q06495 VAR_024765 p.Ala48Phe LP/P rs121918610 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1) [MIM:612286] SLC34A1 Q06495 VAR_024766 p.Val147Met LP/P rs121918611 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1) [MIM:612286] SLC34A1 Q06495 VAR_077914 p.Gly153Ala LP/P rs769409705 Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963] SLC34A1 Q06495 VAR_077915 p.Gly153Val LP/P rs769409705 Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963] SLC34A1 Q06495 VAR_077916 p.Leu155Pro LP/P rs369770760 Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963] SLC34A1 Q06495 VAR_077917 p.Arg215Trp LP/P rs577273266 Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963] SLC34A1 Q06495 VAR_077918 p.Cys336Gly LP/P rs876661338 Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963] SLC34A1 Q06495 VAR_077919 p.Val408Glu LP/P rs140649226 Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963] SLC34A1 Q06495 VAR_077920 p.Trp488Arg LP/P - Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963] SLC34A2 O95436 VAR_030677 p.Gly106Arg LP/P rs137853142 Pulmonary alveolar microlithiasis (PULAM) [MIM:265100] SLC34A2 O95436 VAR_030678 p.Asp634Gly LB/B rs6448389 - SLC34A2 O95436 VAR_034156 p.Val45Ala LB/B rs35426730 - SLC34A3 Q8N130 VAR_025706 p.Arg67His LB/B rs34372115 - SLC34A3 Q8N130 VAR_025707 p.Ser138Phe LP/P rs141734934 Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] SLC34A3 Q8N130 VAR_025708 p.Gly180Ala LB/B rs35643193 - SLC34A3 Q8N130 VAR_025709 p.Ser192Leu LP/P rs199690076 Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] SLC34A3 Q8N130 VAR_025710 p.Gly196Arg LP/P rs121918237 Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] SLC34A3 Q8N130 VAR_025711 p.Asp237Asn LB/B rs145877051 - SLC34A3 Q8N130 VAR_025712 p.Gly337Ser LB/B rs35699762 - SLC34A3 Q8N130 VAR_025713 p.Arg353Leu LP/P rs121918234 Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] SLC34A3 Q8N130 VAR_025714 p.Ala413Glu LP/P rs121918235 Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] SLC34A3 Q8N130 VAR_025715 p.Arg468Trp LP/P rs121918238 Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] SLC34A3 Q8N130 VAR_025716 p.Glu513Val LB/B rs28542318 - SLC35A1 P78382 VAR_086836 p.Gln101His LP/P - Congenital disorder of glycosylation 2F (CDG2F) [MIM:603585] SLC35A1 P78382 VAR_086837 p.Thr156Arg LP/P - Congenital disorder of glycosylation 2F (CDG2F) [MIM:603585] SLC35A1 P78382 VAR_086838 p.Glu196Lys LP/P - Congenital disorder of glycosylation 2F (CDG2F) [MIM:603585] SLC35A2 P78381 VAR_036579 p.Trp252Cys US - A breast cancer sample SLC35A2 P78381 VAR_069773 p.Val331Ile LP/P rs587776961 Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A2 P78381 VAR_071699 p.Ser213Phe LP/P rs587777436 Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A2 P78381 VAR_079035 p.Val258Met US rs1557042828 - SLC35A2 P78381 VAR_086839 p.Arg55Leu US - - SLC35A2 P78381 VAR_086840 p.Gly266Val LP/P - Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A2 P78381 VAR_086841 p.Tyr267Cys US rs869312860 - SLC35A2 P78381 VAR_086842 p.Gly282Arg US rs2063478987 - SLC35A2 P78381 VAR_086843 p.Ser304Pro US - - SLC35A2 P78381 VAR_087467 p.Arg55Pro LP/P - Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A2 P78381 VAR_087470 p.Val71Met LP/P - Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A2 P78381 VAR_087471 p.Cys82Phe LP/P rs1557043622 Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A2 P78381 VAR_087472 p.Leu101Pro LP/P - Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A2 P78381 VAR_087473 p.Ala116Pro LP/P rs1557043133 Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A2 P78381 VAR_087474 p.Pro118Arg LP/P - Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A2 P78381 VAR_087475 p.Tyr130Cys LP/P - Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A2 P78381 VAR_087477 p.Leu175Phe LP/P rs1283637638 Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A2 P78381 VAR_087480 p.Gly188Ser US rs1023107993 Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A2 P78381 VAR_087481 p.Leu233Pro LP/P - Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A2 P78381 VAR_087483 p.Gly273Asp LP/P rs1557042798 Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A2 P78381 VAR_087484 p.Leu303Pro LP/P - Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A2 P78381 VAR_087485 p.Ser312Tyr LP/P - Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A2 P78381 VAR_087486 p.Leu315Pro LP/P rs1131691973 Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896] SLC35A3 Q9Y2D2 VAR_087691 p.Arg25Cys LP/P - Arthrogryposis, impaired intellectual development, and seizures (AMRS) [MIM:615553] SLC35A5 Q9BS91 VAR_036945 p.Asn247Ile LB/B rs17849939 - SLC35B1 P78383 VAR_023778 p.Arg81His LB/B rs1135034 - SLC35B2 Q8TB61 VAR_022657 p.Leu342Val LB/B rs3734707 - SLC35C1 Q96A29 VAR_012347 p.Arg147Cys LP/P rs28939087 Congenital disorder of glycosylation 2C (CDG2C) [MIM:266265] SLC35C1 Q96A29 VAR_012348 p.Thr308Arg LP/P rs28937886 Congenital disorder of glycosylation 2C (CDG2C) [MIM:266265] SLC35C1 Q96A29 VAR_057302 p.Trp49Ser LB/B rs11538193 - SLC35C1 Q96A29 VAR_057303 p.Ile240Val LB/B rs7130656 - SLC35D1 Q9NTN3 VAR_042729 p.Ala82Thr LB/B rs10157422 - SLC35D1 Q9NTN3 VAR_087509 p.Thr65Pro LP/P rs267607062 Schneckenbecken dysplasia (SHNKND) [MIM:269250] SLC35D1 Q9NTN3 VAR_087510 p.Pro133Leu LB/B rs1558168052 - SLC35D2 Q76EJ3 VAR_037653 p.Ala184Ser LB/B rs1051763 - SLC35F3 Q8IY50 VAR_036700 p.Ser231Cys LB/B rs17853780 - SLC35G2 Q8TBE7 VAR_026907 p.Lys400Arg LB/B rs1052618 - SLC35G4 P0C7Q5 VAR_061556 p.Thr104Ala LB/B rs8087447 - SLC35G5 Q96KT7 VAR_059579 p.Gly46Asp LB/B rs6990563 - SLC35G5 Q96KT7 VAR_059580 p.Leu307Pro LB/B rs12681991 - SLC35G6 P0C7Q6 VAR_044335 p.Ala51Thr LB/B rs3760422 - SLC35G6 P0C7Q6 VAR_044336 p.Pro251Leu LB/B rs4491591 - SLC35G6 P0C7Q6 VAR_059581 p.Ala263Thr LB/B rs7209977 - SLC36A1 Q7Z2H8 VAR_048122 p.Phe362Leu LB/B rs9687945 - SLC36A2 Q495M3 VAR_039887 p.Ala445Val LB/B rs10042608 - SLC36A2 Q495M3 VAR_064795 p.Gly87Val LP/P rs77010315 Hyperglycinuria (HG) [MIM:138500] SLC36A2 Q495M3 VAR_064795 p.Gly87Val LP/P rs77010315 Iminoglycinuria (IG) [MIM:242600] SLC36A3 Q495N2 VAR_040006 p.Lys167Glu LB/B rs978012 - SLC36A3 Q495N2 VAR_040007 p.Pro185Ser LB/B rs12520516 - SLC36A3 Q495N2 VAR_040008 p.Arg190His LB/B rs17660042 - SLC36A3 Q495N2 VAR_040009 p.Glu415Asp LB/B rs13155282 - SLC36A3 Q495N2 VAR_040010 p.Ser421Phe LB/B rs13155520 - SLC36A4 Q6YBV0 VAR_036791 p.Leu209Ile LB/B rs17854446 - SLC36A4 Q6YBV0 VAR_036792 p.Pro376His LB/B rs17854445 - SLC36A4 Q6YBV0 VAR_036793 p.Leu429Ile LB/B rs17854443 - SLC37A1 P57057 VAR_017110 p.Asp247Asn LB/B rs768541152 - SLC37A1 P57057 VAR_017111 p.Val414Ile LB/B rs228104 - SLC37A2 Q8TED4 VAR_036794 p.Gly268Ser LB/B rs34485243 - SLC37A2 Q8TED4 VAR_061803 p.Ile96Val LB/B rs55752830 - SLC37A4 O43826 VAR_003184 p.Gly149Glu LP/P rs193302892 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_003185 p.Gly339Cys LP/P rs80356490 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_007850 p.Trp118Arg LP/P rs80356489 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_016840 p.Arg28His LP/P rs121908978 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025581 p.Gly20Asp LP/P rs193302881 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025582 p.Tyr24His LP/P rs193302887 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025583 p.Asn27Lys LP/P rs193302889 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025584 p.Arg28Cys LP/P rs193302882 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025585 p.Gly50Arg LP/P rs193302894 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025586 p.Ser54Arg LP/P rs193302898 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025587 p.Ser55Arg LP/P rs193302884 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025588 p.Gly68Arg LP/P rs193302885 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025589 p.Leu85Pro LP/P rs193302899 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025590 p.Gly88Asp LP/P rs193302886 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025591 p.Gln133Pro LP/P rs193302896 Glycogen storage disease 1C (GSD1C) [MIM:232240] SLC37A4 O43826 VAR_025592 p.Gly150Arg LP/P rs193302883 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025593 p.Pro153Leu LP/P rs193302890 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025594 p.Cys176Arg LP/P rs193302895 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025595 p.Cys183Arg LP/P rs193302893 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025596 p.Asn198Ile LB/B rs34203644 - SLC37A4 O43826 VAR_025597 p.Leu229Pro LP/P rs193302902 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025598 p.Ile278Asn LP/P rs193302900 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025599 p.Arg300His LP/P rs193302903 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025600 p.His301Pro LP/P rs193302891 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025601 p.Gly339Asp LP/P rs121908980 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025602 p.Ala367Thr LP/P rs80356492 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025603 p.Ala373Asp LP/P rs193302901 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025604 p.Gly376Ser LP/P rs193302897 Glycogen storage disease 1C (GSD1C) [MIM:232240] SLC37A4 O43826 VAR_032113 p.Pro191Leu LP/P rs193302888 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_066394 p.Gly50Glu LP/P rs193302877 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_066395 p.Ala148Val LP/P rs193302879 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_066396 p.Trp246Arg LP/P rs193302878 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_066397 p.Arg300Cys LP/P rs193302880 Glycogen storage disease 1B (GSD1B) [MIM:232220] SLC38A10 Q9HBR0 VAR_038927 p.Ala831Gly LB/B rs2725405 - SLC38A10 Q9HBR0 VAR_048126 p.Lys559Arg LB/B rs35546507 - SLC38A11 Q08AI6 VAR_039981 p.Ala194Thr LB/B rs4564790 - SLC38A2 Q96QD8 VAR_037235 p.Asn48Lys LB/B rs11183450 - SLC38A3 Q99624 VAR_087292 p.Arg208Gly US - Developmental and epileptic encephalopathy 102 (DEE102) [MIM:619881] SLC38A3 Q99624 VAR_087293 p.Ala296Thr US rs772451600 Developmental and epileptic encephalopathy 102 (DEE102) [MIM:619881] SLC38A3 Q99624 VAR_087295 p.Thr375Pro LP/P - Developmental and epileptic encephalopathy 102 (DEE102) [MIM:619881] SLC38A3 Q99624 VAR_087296 p.Pro387Gln US rs1559756568 Developmental and epileptic encephalopathy 102 (DEE102) [MIM:619881] SLC38A4 Q969I6 VAR_048123 p.Gly29Arg LB/B rs2429467 - SLC38A4 Q969I6 VAR_048124 p.Thr366Met LB/B rs11183610 - SLC38A5 Q8WUX1 VAR_037396 p.Met451Thr LB/B rs17281188 - SLC38A6 Q8IZM9 VAR_037247 p.Leu70Met LB/B rs976272 - SLC38A6 Q8IZM9 VAR_080631 p.Ser419Thr LB/B rs762713377 - SLC38A7 Q9NVC3 VAR_039015 p.Leu46Pro LB/B rs7193572 - SLC38A7 Q9NVC3 VAR_039016 p.Thr78Ile LB/B rs7191331 - SLC38A8 A6NNN8 VAR_048125 p.Ser220Thr LB/B rs11862366 - SLC38A8 A6NNN8 VAR_071252 p.Ile32Ser LP/P rs587777253 Foveal hypoplasia 2 (FVH2) [MIM:609218] SLC38A8 A6NNN8 VAR_071253 p.Met34Arg LP/P - Foveal hypoplasia 2 (FVH2) [MIM:609218] SLC38A8 A6NNN8 VAR_071254 p.Glu233Lys LP/P rs372929441 Foveal hypoplasia 2 (FVH2) [MIM:609218] SLC38A8 A6NNN8 VAR_071255 p.Val236Asp LP/P rs587777254 Foveal hypoplasia 2 (FVH2) [MIM:609218] SLC38A8 A6NNN8 VAR_071257 p.Gly412Arg LP/P rs587777256 Foveal hypoplasia 2 (FVH2) [MIM:609218] SLC38A9 Q8NBW4 VAR_042546 p.Ser182Thr LB/B rs4865615 - SLC39A10 Q9ULF5 VAR_034658 p.Thr87Ser LB/B rs13419724 - SLC39A11 Q8N1S5 VAR_036812 p.Thr111Ala LB/B rs2466517 - SLC39A12 Q504Y0 VAR_037516 p.Ser36Gly LB/B rs10764176 - SLC39A12 Q504Y0 VAR_037517 p.Thr244Met LB/B rs7899328 - SLC39A12 Q504Y0 VAR_037518 p.Val304Ile LB/B rs2478568 - SLC39A12 Q504Y0 VAR_037519 p.Phe435Leu LB/B rs11011935 - SLC39A12 Q504Y0 VAR_037520 p.Pro471Thr US - A breast cancer sample SLC39A13 Q96H72 VAR_037484 p.Glu28Gly LB/B rs2010519 - SLC39A13 Q96H72 VAR_037485 p.Pro346Leu LB/B rs35978122 - SLC39A13 Q96H72 VAR_087851 p.Gly74Asp US rs121434363 Ehlers-Danlos syndrome, spondylodysplastic type, 3 (EDSSPD3) [MIM:612350] SLC39A14 Q15043 VAR_037450 p.Leu33Pro LB/B rs896378 - SLC39A14 Q15043 VAR_077004 p.Phe98Val LP/P rs879253763 Hypermanganesemia with dystonia 2 (HMNDYT2) [MIM:617013] SLC39A14 Q15043 VAR_077005 p.Gly383Arg LP/P rs879253766 Hypermanganesemia with dystonia 2 (HMNDYT2) [MIM:617013] SLC39A14 Q15043 VAR_077006 p.Asn469Lys LP/P rs750281602 Hypermanganesemia with dystonia 2 (HMNDYT2) [MIM:617013] SLC39A14 Q15043 VAR_080794 p.Leu441Arg LP/P rs1554520924 Hyperostosis cranialis interna (HCIN) [MIM:144755] SLC39A2 Q9NP94 VAR_020265 p.Met80Val LB/B rs2234634 - SLC39A2 Q9NP94 VAR_020266 p.Gly129Glu LB/B rs6413532 - SLC39A2 Q9NP94 VAR_020267 p.His154Tyr LB/B rs2234637 - SLC39A2 Q9NP94 VAR_055452 p.Phe115Leu LB/B rs2234636 - SLC39A2 Q9NP94 VAR_057480 p.Leu48Pro LB/B rs2234633 - SLC39A3 Q9BRY0 VAR_037599 p.Phe100Leu LB/B rs11539244 - SLC39A3 Q9BRY0 VAR_037600 p.Pro257Leu LB/B rs35594294 - SLC39A4 Q6P5W5 VAR_023627 p.Ala58Thr LB/B rs2280838 - SLC39A4 Q6P5W5 VAR_023628 p.Pro84Leu LB/B rs117535951 - SLC39A4 Q6P5W5 VAR_023629 p.Arg95Cys LP/P rs121434292 Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023630 p.Asn106Lys LP/P rs121434290 Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023631 p.Ala114Thr LB/B rs17855765 - SLC39A4 Q6P5W5 VAR_023632 p.Pro200Leu LP/P rs121434287 Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023633 p.Arg251Trp US rs2977838 Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023634 p.Gln303His US rs121434293 Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023635 p.Cys309Tyr LP/P rs782110796 Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023636 p.Gly330Asp LP/P rs121434291 Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023637 p.Thr357Ala LB/B rs2272662 - SLC39A4 Q6P5W5 VAR_023638 p.Val372Pro LP/P - Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023639 p.Gly374Arg LP/P rs121434289 Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023640 p.Leu410Pro US - Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023641 p.Gly526Arg LP/P rs121434288 Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023642 p.Gly630Arg LP/P - Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_057481 p.Met158Thr LB/B rs1871533 - SLC39A4 Q6P5W5 VAR_057482 p.Glu284Lys LB/B rs7823979 - SLC39A4 Q6P5W5 VAR_057483 p.Val372Leu LB/B rs1871534 - SLC39A4 Q6P5W5 VAR_060487 p.Ala22Glu LB/B rs2280839 - SLC39A5 Q6ZMH5 VAR_071911 p.Met304Thr LP/P rs587777625 Myopia 24, autosomal dominant (MYP24) [MIM:615946] SLC39A5 Q6ZMH5 VAR_074009 p.Gly413Ala US - Myopia 24, autosomal dominant (MYP24) [MIM:615946] SLC39A6 Q13433 VAR_059964 p.Glu119Asp LB/B rs1789528 - SLC39A7 Q92504 VAR_050034 p.Asp87Asn LB/B rs34211188 - SLC39A7 Q92504 VAR_050035 p.Gly124Arg LB/B rs35690712 - SLC39A7 Q92504 VAR_050036 p.Glu280Gly LB/B rs1048778 - SLC39A7 Q92504 VAR_086723 p.Pro190Ala LP/P - Agammaglobulinemia 9, autosomal recessive (AGM9) [MIM:619693] SLC39A7 Q92504 VAR_086724 p.Leu217Pro LP/P - Agammaglobulinemia 9, autosomal recessive (AGM9) [MIM:619693] SLC39A7 Q92504 VAR_086725 p.Glu363Lys LP/P - Agammaglobulinemia 9, autosomal recessive (AGM9) [MIM:619693] SLC39A7 Q92504 VAR_086727 p.Thr395Ile US - Agammaglobulinemia 9, autosomal recessive (AGM9) [MIM:619693] SLC39A7 Q92504 VAR_086729 p.Gly458Ala US - Agammaglobulinemia 9, autosomal recessive (AGM9) [MIM:619693] SLC39A8 Q9C0K1 VAR_037551 p.Ala391Thr LB/B rs13107325 - SLC39A8 Q9C0K1 VAR_076241 p.Val33Met LP/P rs373562040 Congenital disorder of glycosylation 2N (CDG2N) [MIM:616721] SLC39A8 Q9C0K1 VAR_076242 p.Gly38Arg LP/P rs778210210 Congenital disorder of glycosylation 2N (CDG2N) [MIM:616721] SLC39A8 Q9C0K1 VAR_076243 p.Gly204Cys LP/P rs779241085 Congenital disorder of glycosylation 2N (CDG2N) [MIM:616721] SLC39A8 Q9C0K1 VAR_076244 p.Ser335Thr LP/P rs864309660 Congenital disorder of glycosylation 2N (CDG2N) [MIM:616721] SLC39A8 Q9C0K1 VAR_076245 p.Ile340Asn LP/P rs864309659 Congenital disorder of glycosylation 2N (CDG2N) [MIM:616721] SLC39A8 Q9C0K1 VAR_083148 p.Cys113Ser LB/B rs1444255127 - SLC39A9 Q9NUM3 VAR_034648 p.Glu64Asp LB/B rs2296723 - SLC39A9 Q9NUM3 VAR_034649 p.Met221Thr LB/B rs2232059 - SLC39A9 Q9NUM3 VAR_034650 p.Arg285Cys LB/B rs17855898 - SLC3A1 Q07837 VAR_011420 p.Pro128Gln LP/P rs576810133 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011421 p.Arg181Gln LP/P rs121912694 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011422 p.Glu268Lys LP/P rs757239030 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011423 p.Thr341Ala LP/P rs200287661 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011424 p.Arg365Trp LP/P rs765828196 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011425 p.Arg452Trp LP/P rs201502095 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011426 p.Tyr461His LP/P rs144162964 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011427 p.Met467Thr LP/P rs121912691 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011428 p.Met467Lys LP/P rs121912691 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011429 p.Tyr582His LP/P rs776729515 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011430 p.Pro615Thr LP/P rs121912696 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011431 p.Met618Ile LB/B rs698761 - SLC3A1 Q07837 VAR_011432 p.Phe648Ser LP/P rs1279289214 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011433 p.Thr652Arg LP/P rs121912695 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011434 p.Leu678Pro LP/P rs121912693 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_022600 p.Thr216Met LP/P rs369641941 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_022601 p.Arg362Cys LP/P rs375399468 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_022602 p.Pro508Ala LP/P rs1032513393 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038200 p.Tyr151Cys LP/P rs778354350 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038201 p.Asn253Lys LP/P - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038202 p.Arg362His LP/P rs121912697 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038203 p.Gly398Arg LP/P rs1297802490 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038204 p.Gly481Val LP/P - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038205 p.Glu482Lys LP/P - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038206 p.Gln510Arg LP/P rs778925791 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038207 p.Arg584Thr LP/P rs759696513 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038208 p.Phe599Ser LP/P rs146963107 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038209 p.Gly600Glu LP/P rs141944551 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_064040 p.Pro122Ser LP/P - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072283 p.Leu89Pro LP/P rs1453871309 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072284 p.Met123Arg LP/P rs1269139353 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072285 p.Tyr124Cys LP/P rs766947722 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072286 p.Ser130Pro LP/P - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072287 p.Asp137Gly LP/P - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072288 p.Gly140Arg LP/P rs768848958 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072289 p.Leu149Gln LP/P - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072290 p.Asp179Tyr LP/P rs747660493 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072291 p.Val183Ala US rs1233216697 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072292 p.Thr189Met LP/P rs140317484 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072293 p.Leu346Pro US - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072294 p.His348Pro LP/P rs756887216 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072295 p.Arg365Pro LP/P rs567478582 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072296 p.Asn410Lys LP/P rs1672093819 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072297 p.Pro441Arg LP/P - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072298 p.Ile445Thr US rs187962930 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072299 p.Arg452Gln LP/P rs750912461 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072300 p.Ser455Leu LP/P rs949704245 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072301 p.Arg456Cys LP/P rs139251285 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072302 p.Arg456His LP/P rs373852467 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072303 p.Ser507Leu LP/P - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072304 p.Ser547Trp LP/P rs368796166 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072305 p.Gly568Ser LP/P rs376639206 Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072306 p.Cys666Trp LP/P - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_072307 p.Cys673Arg US rs756823144 Cystinuria (CSNU) [MIM:220100] SLC40A1 Q9NP59 VAR_018980 p.Arg561Gly LB/B rs11568346 - SLC40A1 Q9NP59 VAR_020295 p.Gln248His LB/B rs11568350 - SLC40A1 Q9NP59 VAR_020296 p.Met432Val LB/B rs11568355 - SLC40A1 Q9NP59 VAR_022594 p.Ala77Asp LP/P rs28939076 Hemochromatosis 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_022595 p.Asn144His LP/P rs104893662 Hemochromatosis 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_022596 p.Asp157Gly LP/P rs104893663 Hemochromatosis 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_022598 p.Gln182His LP/P rs104893670 Hemochromatosis 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_022599 p.Gly323Val LP/P rs104893671 Hemochromatosis 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_029299 p.Pro443Leu LB/B rs45606432 - SLC40A1 Q9NP59 VAR_030057 p.Tyr64Asn LP/P rs1285653301 Hemochromatosis 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_030058 p.Gly80Ser LP/P rs978427853 Hemochromatosis 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_030059 p.Gly80Val LP/P rs104893673 Hemochromatosis 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_030060 p.Asn144Asp LP/P rs104893662 Hemochromatosis 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_030061 p.Asn144Thr LP/P rs1434101655 Hemochromatosis 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_030062 p.Asn174Ile LB/B rs1397119020 - SLC40A1 Q9NP59 VAR_030063 p.Asp181Val LP/P rs104893672 Hemochromatosis 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_030064 p.Gly267Asp LP/P rs104893664 Hemochromatosis 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_030065 p.Asp270Val LP/P rs368420430 Hemochromatosis 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_030066 p.Cys326Tyr US - - SLC40A1 Q9NP59 VAR_030067 p.Gly490Asp LP/P rs1060501102 Hemochromatosis 4 (HFE4) [MIM:606069] SLC41A1 Q8IVJ1 VAR_086146 p.Gly233Val LP/P - Nephronophthisis-like nephropathy 2 (NPHPL2) [MIM:619468] SLC41A1 Q8IVJ1 VAR_086248 p.Ala350Val LB/B rs1305279636 - SLC41A3 Q96GZ6 VAR_033296 p.Thr62Ala LB/B rs4234270 - SLC41A3 Q96GZ6 VAR_046667 p.Val71Met LB/B rs11543283 - SLC43A1 O75387 VAR_053670 p.Gly238Val LB/B rs17151933 - SLC43A1 O75387 VAR_053671 p.His443Tyr LB/B rs34746107 - SLC43A3 Q8NBI5 VAR_035156 p.Pro53Leu LB/B rs34799622 - SLC44A1 Q8WWI5 VAR_048837 p.Ser644Ala LB/B rs3199966 - SLC44A2 Q8IWA5 VAR_023404 p.Gln154Arg LB/B rs2288904 - SLC44A3 Q8N4M1 VAR_023405 p.Val438Ile LB/B rs859098 - SLC44A3 Q8N4M1 VAR_064752 p.Gly441Trp US - - SLC44A4 Q53GD3 VAR_023406 p.Arg6Leu LB/B rs2075798 - SLC44A4 Q53GD3 VAR_023407 p.Val187Ile LB/B rs2242665 - SLC44A4 Q53GD3 VAR_023408 p.Met326Val LB/B rs644827 - SLC44A4 Q53GD3 VAR_023409 p.Arg493Cys LB/B rs6915800 - SLC44A4 Q53GD3 VAR_036210 p.Ala347Thr US - A colorectal cancer sample SLC44A4 Q53GD3 VAR_036211 p.Thr411Met US rs563426936 A colorectal cancer sample SLC44A4 Q53GD3 VAR_047020 p.Asp123Val LB/B rs12661281 - SLC44A4 Q53GD3 VAR_047021 p.Gly128Glu LB/B rs17856465 - SLC44A4 Q53GD3 VAR_078848 p.Met156Val LP/P rs1135402753 Deafness, autosomal dominant, 72 (DFNA72) [MIM:617606] SLC44A4 Q53GD3 VAR_078849 p.Pro397Ser LB/B rs116706632 - SLC45A1 Q9Y2W3 VAR_079344 p.Ile90Thr LP/P rs141816307 Intellectual developmental disorder with neuropsychiatric features (IDDNPF) [MIM:617532] SLC45A1 Q9Y2W3 VAR_079345 p.Arg210Trp LP/P rs781036625 Intellectual developmental disorder with neuropsychiatric features (IDDNPF) [MIM:617532] SLC45A1 Q9Y2W3 VAR_079346 p.Ala244Val LP/P rs150539474 Intellectual developmental disorder with neuropsychiatric features (IDDNPF) [MIM:617532] SLC45A2 Q9UMX9 VAR_012162 p.Leu374Phe LB/B rs16891982 - SLC45A2 Q9UMX9 VAR_022710 p.Pro58Ala LP/P rs1290584600 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022711 p.Pro58Ser LP/P - Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022712 p.Asp157Asn LP/P rs121912621 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022713 p.Gly188Val LP/P - Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022714 p.Trp202Cys LP/P rs146802593 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022716 p.Glu272Lys LB/B rs26722 - SLC45A2 Q9UMX9 VAR_022717 p.Tyr317Cys LP/P - Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022718 p.Leu361Pro LP/P rs121912619 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022719 p.Ala477Thr LP/P rs1352999116 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022720 p.Ala486Val LP/P rs121912620 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022721 p.Thr500Pro LB/B rs11568737 - SLC45A2 Q9UMX9 VAR_022722 p.Val507Leu LB/B rs3733808 - SLC45A2 Q9UMX9 VAR_067071 p.Met42Ile LP/P rs1579564783 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_067072 p.Gly64Ser LP/P - Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_067073 p.Thr302Ser LP/P rs553073635 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_067074 p.Arg348Cys LP/P rs372465070 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_072602 p.Leu60Arg LP/P rs925113610 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_073166 p.Gly110Arg LP/P rs762813061 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_073167 p.Leu151Pro LP/P - Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_073168 p.Asp160His LP/P rs760780597 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_073169 p.His233Gln LP/P - Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_073170 p.Gly349Arg LP/P rs146930801 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_073171 p.Glu368Lys LP/P rs1307137184 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_073172 p.Phe418Leu LP/P rs144503724 Albinism, oculocutaneous, 4 (OCA4) [MIM:606574] SLC45A4 Q5BKX6 VAR_043164 p.Pro277Leu LB/B rs753778 - SLC45A4 Q5BKX6 VAR_043165 p.Asn718Asp LB/B rs3739238 - SLC46A1 Q96NT5 VAR_032825 p.Arg113Ser LP/P rs80338770 Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_032826 p.Gly147Arg LP/P rs80338771 Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_032827 p.Ser318Arg LP/P rs80338772 Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_032828 p.Arg376Trp LP/P rs80338773 Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_032829 p.Pro425Arg LP/P rs80338774 Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_050302 p.Thr295Ala LB/B rs34552966 - SLC46A1 Q96NT5 VAR_058210 p.Arg113Cys LP/P rs80338770 Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_067960 p.Asp156Tyr LP/P rs281875210 Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_067961 p.Ala335Asp LP/P rs281875208 Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_067962 p.Gly338Arg LP/P rs281875209 Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_067963 p.Arg376Gln LP/P rs281875211 Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_085918 p.Gly189Val LP/P - Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_085919 p.Phe392Val LP/P - Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_085920 p.Asn411Lys LP/P - Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A2 Q9BY10 VAR_021050 p.Ala366Val LB/B rs16917454 - SLC47A1 Q96FL8 VAR_037587 p.Val338Ile LB/B rs35790011 - SLC47A1 Q96FL8 VAR_087027 p.Val10Leu LB/B rs555657341 - SLC47A1 Q96FL8 VAR_087028 p.Gly64Asp US rs77630697 - SLC47A1 Q96FL8 VAR_087029 p.Ala310Val US rs1322335818 - SLC47A1 Q96FL8 VAR_087030 p.Asp328Ala US rs149774861 - SLC47A1 Q96FL8 VAR_087031 p.Asn474Ser US rs1480708114 - SLC47A2 Q86VL8 VAR_037358 p.Gly429Arg LB/B rs34399035 - SLC47A2 Q86VL8 VAR_086946 p.Lys64Asn US - - SLC47A2 Q86VL8 VAR_086947 p.Gly247Val US - - SLC49A3 Q6UXD7 VAR_030144 p.Ser170Pro LB/B rs11558585 - SLC4A1 P02730 VAR_000798 p.Glu40Lys US rs45562031 - SLC4A1 P02730 VAR_000799 p.Lys56Glu LB/B rs5036 - SLC4A1 P02730 VAR_000800 p.Pro327Arg LP/P rs28931583 Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_000802 p.Arg518Cys LP/P rs868742796 Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_000803 p.Pro548Leu LB/B rs879202054 - SLC4A1 P02730 VAR_000804 p.Thr552Ile LB/B - - SLC4A1 P02730 VAR_000805 p.Val557Met LB/B rs121912743 - SLC4A1 P02730 VAR_000806 p.Glu658Lys LB/B rs75731670 - SLC4A1 P02730 VAR_000808 p.Pro854Leu LB/B rs2285644 - SLC4A1 P02730 VAR_013784 p.Glu90Lys LP/P rs28929480 Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013785 p.Gly130Arg LP/P rs121912749 Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013786 p.Pro147Ser LP/P - Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013787 p.Ala285Asp LP/P - Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013788 p.Arg432Trp LB/B rs373768879 - SLC4A1 P02730 VAR_013789 p.Gly455Glu LP/P - Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013790 p.Glu480Lys LB/B rs121912756 - SLC4A1 P02730 VAR_013791 p.Val488Met LP/P rs28931584 Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013792 p.Arg490Cys LP/P rs1398477044 Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013793 p.Lys551Asn LB/B - - SLC4A1 P02730 VAR_013794 p.Tyr555His LB/B - - SLC4A1 P02730 VAR_013795 p.Pro561Ser LB/B - - SLC4A1 P02730 VAR_013796 p.Gly565Ala LB/B rs551784583 - SLC4A1 P02730 VAR_013797 p.Pro566Ala LB/B - - SLC4A1 P02730 VAR_013798 p.Pro566Ser LB/B rs1393742050 - SLC4A1 P02730 VAR_013799 p.Asn569Lys LB/B - - SLC4A1 P02730 VAR_013800 p.Arg646Gln LB/B rs121912757 - SLC4A1 P02730 VAR_013801 p.Arg646Trp LB/B rs121912758 - SLC4A1 P02730 VAR_013802 p.Arg656Cys LB/B rs372514760 - SLC4A1 P02730 VAR_013803 p.Arg656His LB/B rs758868427 - SLC4A1 P02730 VAR_013804 p.Leu707Pro LP/P - Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013805 p.Gly714Arg LP/P - Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013806 p.Arg760Gln LP/P rs121912755 Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013807 p.Arg760Trp LP/P rs373916826 Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013808 p.Gly771Asp LP/P rs121912741 Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013809 p.Ile783Asn LP/P - Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013810 p.Arg808Cys LP/P rs1167814744 Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013811 p.Arg808His LP/P rs866727908 Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013812 p.His834Pro LP/P - Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013813 p.Thr837Ala LP/P rs121912750 Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013814 p.Thr837Met LP/P - Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013815 p.Pro868Leu LB/B rs121912759 - SLC4A1 P02730 VAR_013816 p.Arg870Trp LP/P rs28931585 Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_014612 p.Asp38Ala LB/B rs5035 - SLC4A1 P02730 VAR_014613 p.Arg112Ser LB/B rs5037 - SLC4A1 P02730 VAR_014614 p.Ile442Phe LB/B rs5018 - SLC4A1 P02730 VAR_014615 p.Met586Leu LB/B rs5019 - SLC4A1 P02730 VAR_014616 p.Ile688Val LB/B rs5022 - SLC4A1 P02730 VAR_014617 p.Ser690Gly LB/B rs5023 - SLC4A1 P02730 VAR_014618 p.Arg832His LB/B rs5025 - SLC4A1 P02730 VAR_014619 p.Val862Ile LB/B rs5026 - SLC4A1 P02730 VAR_015104 p.Arg589Cys LP/P rs121912745 Renal tubular acidosis, distal, 1 (DRTA1) [MIM:179800] SLC4A1 P02730 VAR_015105 p.Arg589His LP/P rs121912744 Renal tubular acidosis, distal, 1 (DRTA1) [MIM:179800] SLC4A1 P02730 VAR_015106 p.Arg589Ser LP/P rs121912745 Renal tubular acidosis, distal, 1 (DRTA1) [MIM:179800] SLC4A1 P02730 VAR_015107 p.Ser613Phe LP/P rs121912746 Renal tubular acidosis, distal, 1 (DRTA1) [MIM:179800] SLC4A1 P02730 VAR_015108 p.Ala858Asp LP/P rs121912751 Renal tubular acidosis, distal, 1 (DRTA1) [MIM:179800] SLC4A1 P02730 VAR_015171 p.Gly701Asp LP/P rs121912748 Renal tubular acidosis, distal, 4, with hemolytic anemia (DRTA4) [MIM:611590] SLC4A1 P02730 VAR_015171 p.Gly701Asp LP/P rs121912748 Renal tubular acidosis, distal, with normal red cell morphology (dRTA-NRC) [MIM:611590] SLC4A1 P02730 VAR_025090 p.Glu508Lys LB/B rs45568837 - SLC4A1 P02730 VAR_036693 p.Asp45Glu LB/B rs34700496 - SLC4A1 P02730 VAR_039290 p.Glu68Lys LB/B rs13306787 - SLC4A1 P02730 VAR_039291 p.Leu73Met LB/B rs781490287 - SLC4A1 P02730 VAR_039292 p.Arg602His LP/P rs121912754 Renal tubular acidosis, distal, 4, with hemolytic anemia (DRTA4) [MIM:611590] SLC4A1 P02730 VAR_039293 p.Leu687Pro LP/P rs863225463 Cryohydrocytosis (CHC) [MIM:185020] SLC4A1 P02730 VAR_039294 p.Asp705Tyr LP/P - Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_039295 p.Ser731Pro LP/P rs863225461 Cryohydrocytosis (CHC) [MIM:185020] SLC4A1 P02730 VAR_039296 p.His734Arg LP/P rs863225462 Cryohydrocytosis (CHC) [MIM:185020] SLC4A1 P02730 VAR_039297 p.Ser773Pro LP/P rs121912753 Renal tubular acidosis, distal, with normal red cell morphology (dRTA-NRC) [MIM:611590] SLC4A1 P02730 VAR_058035 p.Pro27His LB/B - - SLC4A1 P02730 VAR_058036 p.Glu72Asp LB/B rs13306788 - SLC4A1 P02730 VAR_058037 p.Glu429Asp LB/B rs1048804130 - SLC4A1 P02730 VAR_058038 p.Gly455Arg LP/P - Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_058039 p.Arg490His LP/P rs1598299485 Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_058040 p.Pro561Ala LB/B - - SLC4A1 P02730 VAR_058041 p.Gly609Arg LP/P rs878853002 Renal tubular acidosis, distal, 1 (DRTA1) [MIM:179800] SLC4A1 P02730 VAR_058042 p.Met663Lys LP/P - Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_058043 p.Thr837Arg LP/P - Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_087559 p.Thr444Asn LP/P rs754973425 Renal tubular acidosis, distal, 4, with hemolytic anemia (DRTA4) [MIM:611590] SLC4A11 Q8NBS3 VAR_015521 p.Gln392His LB/B - - SLC4A11 Q8NBS3 VAR_015522 p.Lys393Asn LB/B - - SLC4A11 Q8NBS3 VAR_015523 p.Met467Thr LB/B - - SLC4A11 Q8NBS3 VAR_015524 p.Thr692Ala LB/B rs1180556979 - SLC4A11 Q8NBS3 VAR_030662 p.Gly448Asp LP/P rs121909389 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_030663 p.Ser473Leu LP/P rs121909388 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_030664 p.Arg739Gln LP/P rs121909387 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_030665 p.Arg853Cys LP/P rs121909391 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_034944 p.Asn134Ser LB/B rs34520315 - SLC4A11 Q8NBS3 VAR_034945 p.Ala144Thr LP/P rs752287261 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_034946 p.Ser197Pro LP/P rs121909395 Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400] SLC4A11 Q8NBS3 VAR_034947 p.Arg472Lys LP/P rs121909393 Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400] SLC4A11 Q8NBS3 VAR_034948 p.Arg788His LP/P rs766567944 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_034949 p.Val808Met LP/P rs757244518 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_034950 p.Thr817Met LP/P rs1422526172 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_034951 p.Leu827Pro LP/P rs121909394 Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400] SLC4A11 Q8NBS3 VAR_034952 p.Met832Ile LB/B rs34224785 - SLC4A11 Q8NBS3 VAR_034953 p.Met840Val LP/P rs121909396 Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400] SLC4A11 Q8NBS3 VAR_034954 p.Arg853His LP/P rs121909392 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_047806 p.Asn56Thr LB/B rs778688114 - SLC4A11 Q8NBS3 VAR_047807 p.Met75Val LB/B rs200940928 - SLC4A11 Q8NBS3 VAR_047808 p.Ala311Val LB/B rs760889152 - SLC4A11 Q8NBS3 VAR_047809 p.Glu383Lys LP/P rs267607065 Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_047810 p.Thr545Met LB/B rs755379986 - SLC4A11 Q8NBS3 VAR_047811 p.Ser549Leu LB/B rs754745672 - SLC4A11 Q8NBS3 VAR_047812 p.Gly693Glu LP/P rs267607064 Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_047813 p.Thr738Met LP/P rs267607066 Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_063713 p.Arg109His LP/P rs1276051624 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_063714 p.Ala253Val LP/P rs1298347142 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_063715 p.Cys370Arg LP/P - Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_063716 p.Arg739Trp LP/P rs757553189 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_063717 p.Pro757Leu LP/P rs1465111896 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_063718 p.Leu857Pro LP/P - Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_064422 p.Glu151Asp LP/P rs141836046 Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_064423 p.Arg266Pro LP/P - Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_064424 p.Tyr510Cys LP/P rs150571742 Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_064425 p.Val559Met LP/P rs144734280 Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_064426 p.Gly567Asp LP/P rs139078082 Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_064427 p.Gly726Arg LP/P rs143965185 Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_064428 p.Gly818Ser LP/P rs144586846 Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_064978 p.Arg193Trp LP/P rs566507872 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_064979 p.Ser197Leu LP/P rs759667344 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_064980 p.Arg217Cys LP/P rs762942751 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_064981 p.Gly378Arg LP/P rs780171125 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_064982 p.Thr385Lys LP/P - Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_064983 p.Gly402Asp LP/P - Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_064984 p.Leu457Arg LP/P - Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_064985 p.Thr568Lys LP/P - Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_067272 p.Glu127Lys LP/P rs1482631297 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_074015 p.Glu659Ala LP/P rs749826950 Corneal endothelial dystrophy (CHED) [MIM:217700] SLC4A11 Q8NBS3 VAR_075537 p.Trp224Ser LP/P rs746532062 Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_075538 p.Thr418Ile LP/P - Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_075539 p.Val491Ile LP/P rs532728316 Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268] SLC4A1AP Q9BWU0 VAR_024748 p.Pro85Thr LB/B rs9678851 - SLC4A1AP Q9BWU0 VAR_051219 p.Arg127Cys LB/B rs9679004 - SLC4A2 P04920 VAR_025168 p.Gly26Glu LB/B rs2303929 - SLC4A2 P04920 VAR_025169 p.Glu202Val LB/B rs2229551 - SLC4A2 P04920 VAR_025170 p.Arg311Trp LB/B rs35016052 - SLC4A2 P04920 VAR_025171 p.Leu1204Phe LB/B rs34918764 - SLC4A2 P04920 VAR_087349 p.Ala186Thr US - Osteopetrosis, autosomal recessive 9 (OPTB9) [MIM:620366] SLC4A2 P04920 VAR_087350 p.Val553Ala US - Osteopetrosis, autosomal recessive 9 (OPTB9) [MIM:620366] SLC4A3 P48751 VAR_055536 p.Ser226Leu LB/B rs36068948 - SLC4A3 P48751 VAR_059081 p.His157Pro LB/B rs597306 - SLC4A3 P48751 VAR_059082 p.Asp867Ala LB/B rs635311 - SLC4A3 P48751 VAR_088079 p.Arg343His LP/P - Short QT syndrome 7 (SQT7) [MIM:620231] SLC4A3 P48751 VAR_088080 p.Arg573Cys US - Short QT syndrome 7 (SQT7) [MIM:620231] SLC4A3 P48751 VAR_088081 p.Arg594Trp US - Short QT syndrome 7 (SQT7) [MIM:620231] SLC4A3 P48751 VAR_088082 p.Glu825Asp US - Short QT syndrome 7 (SQT7) [MIM:620231] SLC4A3 P48751 VAR_088083 p.Arg925His US - Short QT syndrome 7 (SQT7) [MIM:620231] SLC4A4 Q9Y6R1 VAR_024751 p.Arg342Ser LP/P rs121908856 Renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development (pRTA-OA) [MIM:604278] SLC4A4 Q9Y6R1 VAR_024752 p.Ser471Leu LP/P - Renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development (pRTA-OA) [MIM:604278] SLC4A4 Q9Y6R1 VAR_024753 p.Thr529Ser LP/P - Renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development (pRTA-OA) [MIM:604278] SLC4A4 Q9Y6R1 VAR_024754 p.Arg554His LP/P rs121908857 Renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development (pRTA-OA) [MIM:604278] SLC4A4 Q9Y6R1 VAR_024755 p.Ala843Val LP/P - Renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development (pRTA-OA) [MIM:604278] SLC4A4 Q9Y6R1 VAR_024756 p.Arg925Cys LP/P rs1203164637 Renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development (pRTA-OA) [MIM:604278] SLC4A4 Q9Y6R1 VAR_071661 p.Gly530Arg LP/P - Renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development (pRTA-OA) [MIM:604278] SLC4A4 Q9Y6R1 VAR_071662 p.Leu566Pro LP/P - Renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development (pRTA-OA) [MIM:604278] SLC4A5 Q9BY07 VAR_048350 p.Ser251Asn LB/B rs17009792 - SLC4A5 Q9BY07 VAR_061032 p.His253Tyr LB/B rs55651232 - SLC4A7 Q9Y6M7 VAR_055317 p.Glu326Lys LB/B rs3755652 - SLC4A8 Q2Y0W8 VAR_048351 p.Asp312Ala LB/B rs35966334 - SLC4A8 Q2Y0W8 VAR_048352 p.Ile898Val LB/B rs12318785 - SLC51A Q86UW1 VAR_042895 p.Val202Ile LB/B rs939885 - SLC52A1 Q9NWF4 VAR_028361 p.Gln70Arg LB/B rs346822 - SLC52A1 Q9NWF4 VAR_028362 p.Ala271Val LB/B rs346821 - SLC52A1 Q9NWF4 VAR_028363 p.Val296Met LB/B rs2304445 - SLC52A1 Q9NWF4 VAR_079006 p.Leu386Val LB/B rs187609896 - SLC52A2 Q9HAB3 VAR_068694 p.Gly306Arg LP/P rs398124641 Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] SLC52A2 Q9HAB3 VAR_077433 p.Trp31Ser LP/P rs797045199 Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] SLC52A2 Q9HAB3 VAR_077434 p.Ser52Phe LP/P rs397514657 Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] SLC52A2 Q9HAB3 VAR_077435 p.Leu123Pro LP/P rs397514538 Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] SLC52A2 Q9HAB3 VAR_077436 p.Pro141Thr LP/P rs377740960 Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] SLC52A2 Q9HAB3 VAR_077437 p.Ala284Asp LP/P rs398123067 Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] SLC52A2 Q9HAB3 VAR_077438 p.Tyr305Cys LP/P rs398123068 Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] SLC52A2 Q9HAB3 VAR_077439 p.Leu312Pro LP/P rs754320812 Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] SLC52A2 Q9HAB3 VAR_077440 p.Leu339Pro LP/P rs148234606 Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] SLC52A2 Q9HAB3 VAR_077441 p.Gly419Ser LP/P rs397514658 Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] SLC52A3 Q9NQ40 VAR_053565 p.Ile74Met LB/B rs35655964 - SLC52A3 Q9NQ40 VAR_053566 p.Asp174Gly LB/B rs6054614 - SLC52A3 Q9NQ40 VAR_053567 p.Pro267Leu LB/B rs3746804 - SLC52A3 Q9NQ40 VAR_053568 p.Thr278Met LB/B rs3746803 - SLC52A3 Q9NQ40 VAR_053569 p.Ile303Val LB/B rs3746802 - SLC52A3 Q9NQ40 VAR_063694 p.Glu36Lys LP/P rs267606686 Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_063695 p.Arg132Trp LP/P rs267606684 Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_063696 p.Phe224Leu LP/P rs267606685 Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_063698 p.Leu350Met LB/B rs76947760 - SLC52A3 Q9NQ40 VAR_063699 p.Ser411Arg LB/B rs910857 - SLC52A3 Q9NQ40 VAR_063700 p.Val413Ala LP/P rs267606687 Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_063701 p.Phe457Leu LP/P rs779750163 Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_077422 p.Trp17Arg LP/P rs797045190 Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_077423 p.Asn21Ser LP/P rs199588390 Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_077424 p.Pro28Thr LP/P rs267606688 Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_077425 p.Val58Asp LP/P rs797045192 Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_077426 p.Glu71Lys LP/P rs267606683 Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_077427 p.Pro220His US rs797045194 Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_077428 p.Arg266Trp US rs370499474 Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_077429 p.Ala312Val US rs752218005 Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_077430 p.Pro319Ser US rs797045195 Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_077431 p.Gly330Val US rs797045196 Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_077432 p.Gly375Asp US rs1219868273 Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] SLC5A1 P13866 VAR_007168 p.Asp28Asn LP/P rs121912668 Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_013630 p.Asp28Gly LP/P rs121912669 Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_021502 p.Arg135Trp LP/P - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_021503 p.Gly318Arg LP/P rs371505974 Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_021504 p.Ala468Val LP/P rs200406921 Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_029147 p.Asn51Ser LP/P rs17683011 Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_029148 p.Ala411Thr LP/P rs17683430 Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_086053 p.Ser159Pro LP/P - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_086054 p.Ala166Thr LP/P - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_086057 p.Trp276Leu LP/P - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_086058 p.Cys292Tyr LP/P - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_086059 p.Gln295Arg LP/P - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_086060 p.Arg300Ser LP/P - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_086061 p.Ala304Val LP/P - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_086062 p.Leu369Ser LP/P - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_086064 p.Arg379Gln LP/P - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_086065 p.Ala388Val LP/P - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_086066 p.Phe405Ser LP/P - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_086067 p.Gly426Arg LP/P - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_086068 p.Val470Asn LP/P - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_086069 p.Arg499His LP/P - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_086070 p.His615Gln LP/P - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A10 A0PJK1 VAR_052493 p.Ala522Val LB/B rs12604020 - SLC5A11 Q8WWX8 VAR_042896 p.Val182Ala LB/B rs11074656 - SLC5A11 Q8WWX8 VAR_042897 p.Phe258Leu LB/B rs35993597 - SLC5A11 Q8WWX8 VAR_042898 p.Gln452Arg LB/B rs17854935 - SLC5A11 Q8WWX8 VAR_042899 p.Met526Ile LB/B - - SLC5A11 Q8WWX8 VAR_052494 p.Thr47Pro LB/B rs36048966 - SLC5A11 Q8WWX8 VAR_061877 p.Val539Met LB/B rs35038575 - SLC5A12 Q1EHB4 VAR_043703 p.Val510Leu LB/B rs12278761 - SLC5A2 P31639 VAR_019310 p.Asn654Ser LP/P rs61742739 Renal glucosuria (GLYS) [MIM:233100] SLC5A3 P53794 VAR_061875 p.Ala50Thr LB/B rs8129891 - SLC5A3 P53794 VAR_061876 p.Lys566Gln LB/B rs4817617 - SLC5A4 Q9NY91 VAR_021997 p.Ala46Thr LB/B rs2235171 - SLC5A4 Q9NY91 VAR_052489 p.Thr4Met LB/B rs16990065 - SLC5A5 Q92911 VAR_010263 p.Gly93Arg LP/P rs121909178 Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] SLC5A5 Q92911 VAR_010264 p.Ala102Pro LB/B - - SLC5A5 Q92911 VAR_010265 p.Gln267Glu LP/P rs121909176 Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] SLC5A5 Q92911 VAR_010266 p.Thr354Pro LP/P rs121909174 Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] SLC5A5 Q92911 VAR_010267 p.Gly395Arg LP/P rs121909180 Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] SLC5A5 Q92911 VAR_010268 p.Thr536Gln US - - SLC5A5 Q92911 VAR_010269 p.Gly543Glu LP/P rs121909179 Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] SLC5A5 Q92911 VAR_010270 p.Ser556Gln US - - SLC5A5 Q92911 VAR_052490 p.Cys298Gly LB/B rs8108188 - SLC5A6 Q9Y289 VAR_052491 p.Ser481Phe LB/B rs1395 - SLC5A6 Q9Y289 VAR_052492 p.Ser492Asn LB/B rs1064845 - SLC5A6 Q9Y289 VAR_084536 p.Arg123Leu LP/P - Sodium-dependent multivitamin transporter deficiency (SMVTD) [MIM:618973] SLC5A6 Q9Y289 VAR_084537 p.Arg400Thr LP/P rs370950187 Sodium-dependent multivitamin transporter deficiency (SMVTD) [MIM:618973] SLC5A6 Q9Y289 VAR_087446 p.Tyr162Cys LP/P - Peripheral motor neuropathy, childhood-onset, biotin-responsive (COMNB) [MIM:619903] SLC5A6 Q9Y289 VAR_087447 p.Ser429Gly LP/P - Peripheral motor neuropathy, childhood-onset, biotin-responsive (COMNB) [MIM:619903] SLC5A7 Q9GZV3 VAR_020524 p.Ile89Val LB/B rs1013940 - SLC5A7 Q9GZV3 VAR_077854 p.Asp48Gly LP/P rs886039768 Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143] SLC5A7 Q9GZV3 VAR_077855 p.Gly65Glu LP/P rs886039765 Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143] SLC5A7 Q9GZV3 VAR_077856 p.Pro105Ser LP/P rs886039766 Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143] SLC5A7 Q9GZV3 VAR_077857 p.Tyr111His LP/P - Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143] SLC5A7 Q9GZV3 VAR_077858 p.Tyr175Cys US rs1331713195 Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143] SLC5A7 Q9GZV3 VAR_077859 p.Ile291Thr US rs375397889 Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143] SLC5A7 Q9GZV3 VAR_077860 p.Val344Leu US - Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143] SLC5A7 Q9GZV3 VAR_077861 p.Arg361Gln LP/P rs147656110 Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143] SLC5A7 Q9GZV3 VAR_077862 p.Phe418Val US - Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143] SLC5A7 Q9GZV3 VAR_077863 p.Arg446Gly LP/P - Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143] SLC5A8 Q8N695 VAR_057336 p.Val193Ile LB/B rs1709189 - SLC5A8 Q8N695 VAR_057337 p.Phe251Val LB/B rs11834933 - SLC5A9 Q2M3M2 VAR_043166 p.Val152Met LB/B rs212989 - SLC5A9 Q2M3M2 VAR_043167 p.Met207Thr LB/B rs12047252 - SLC5A9 Q2M3M2 VAR_043168 p.Ile269Met LB/B rs212991 - SLC5A9 Q2M3M2 VAR_068963 p.Val124Ile LB/B rs141515954 - SLC66A1 Q6ZP29 VAR_031409 p.Ser16Asn LB/B rs12140547 - SLC66A1L A1A4F0 VAR_050723 p.Val4Leu LB/B rs7616293 - SLC66A2 Q8N2U9 VAR_035979 p.Gly175Ala US - A colorectal cancer sample SLC6A1 P30531 VAR_055088 p.Pro521Gln LB/B rs17855574 - SLC6A1 P30531 VAR_073852 p.Arg44Gln LP/P rs794726859 Myoclonic-atonic epilepsy (MAE) [MIM:616421] SLC6A1 P30531 VAR_073853 p.Ala288Val LP/P rs794726860 Myoclonic-atonic epilepsy (MAE) [MIM:616421] SLC6A1 P30531 VAR_073854 p.Gly297Arg LP/P rs876657400 Myoclonic-atonic epilepsy (MAE) [MIM:616421] SLC6A1 P30531 VAR_073855 p.Ala334Pro LP/P rs749240316 Myoclonic-atonic epilepsy (MAE) [MIM:616421] SLC6A1 P30531 VAR_086249 p.Gly94Glu US - - SLC6A1 P30531 VAR_086250 p.Trp235Arg US - - SLC6A1 P30531 VAR_086251 p.Phe270Ser US - Myoclonic-atonic epilepsy (MAE) [MIM:616421] SLC6A1 P30531 VAR_086253 p.Tyr445Cys US - - SLC6A1 P30531 VAR_086255 p.Gly550Arg US - - SLC6A12 P48065 VAR_058704 p.Cys10Arg LB/B rs557881 - SLC6A13 Q9NSD5 VAR_011594 p.Val426Ile LB/B rs577294 - SLC6A15 Q9H2J7 VAR_052065 p.Ala400Val LB/B rs12424429 - SLC6A15 Q9H2J7 VAR_052066 p.Ile603Met LB/B rs3782369 - SLC6A16 Q9GZN6 VAR_052067 p.Ser108Arg LB/B rs35860981 - SLC6A16 Q9GZN6 VAR_064753 p.Glu236Lys US - - SLC6A17 Q9H1V8 VAR_061814 p.Ala57Thr LB/B rs12737742 - SLC6A17 Q9H1V8 VAR_073371 p.Gly162Arg LP/P rs775085213 Intellectual developmental disorder, autosomal recessive 48 (MRT48) [MIM:616269] SLC6A17 Q9H1V8 VAR_073372 p.Pro633Arg LP/P rs375380880 Intellectual developmental disorder, autosomal recessive 48 (MRT48) [MIM:616269] SLC6A18 Q96N87 VAR_027975 p.Cys12Ser LB/B rs7728667 - SLC6A18 Q96N87 VAR_027976 p.Thr32Ile LB/B rs7705355 - SLC6A18 Q96N87 VAR_027977 p.Pro478Leu LB/B rs4073918 - SLC6A18 Q96N87 VAR_057210 p.Ala4Asp LB/B rs34469326 - SLC6A18 Q96N87 VAR_064796 p.Gly79Ser LB/B rs113861454 - SLC6A18 Q96N87 VAR_064797 p.Gly496Arg LB/B rs147278493 - SLC6A19 Q695T7 VAR_023314 p.Arg57Cys LP/P rs762989809 Hartnup disorder (HND) [MIM:234500] SLC6A19 Q695T7 VAR_023315 p.Asp173Asn LP/P rs121434346 Hartnup disorder (HND) [MIM:234500] SLC6A19 Q695T7 VAR_023316 p.Arg240Gln LP/P rs758492838 Hartnup disorder (HND) [MIM:234500] SLC6A19 Q695T7 VAR_023317 p.Leu242Pro LP/P rs200745023 Hartnup disorder (HND) [MIM:234500] SLC6A19 Q695T7 VAR_023318 p.Val252Ile LB/B rs7732589 - SLC6A19 Q695T7 VAR_023319 p.Glu501Lys LP/P rs1236852017 Hartnup disorder (HND) [MIM:234500] SLC6A19 Q695T7 VAR_081070 p.Gly66Arg LP/P rs1251095994 Hartnup disorder (HND) [MIM:234500] SLC6A19 Q695T7 VAR_081071 p.Ala69Thr LP/P - Hartnup disorder (HND) [MIM:234500] SLC6A19 Q695T7 VAR_081072 p.Gly93Arg LP/P rs757679627 Hartnup disorder (HND) [MIM:234500] SLC6A19 Q695T7 VAR_081074 p.Pro265Leu LP/P rs148139045 Hartnup disorder (HND) [MIM:234500] SLC6A19 Q695T7 VAR_081075 p.Gly284Arg LP/P rs200842846 Hartnup disorder (HND) [MIM:234500] SLC6A19 Q695T7 VAR_081076 p.Arg328Cys LP/P rs142164435 Hartnup disorder (HND) [MIM:234500] SLC6A19 Q695T7 VAR_081077 p.Glu405Lys LP/P rs765501634 Hartnup disorder (HND) [MIM:234500] SLC6A19 Q695T7 VAR_081078 p.Asp517Gly LP/P rs745524993 Hartnup disorder (HND) [MIM:234500] SLC6A19 Q695T7 VAR_081079 p.Pro579Leu LP/P rs751554174 Hartnup disorder (HND) [MIM:234500] SLC6A2 P23975 VAR_010022 p.Ala457Pro LP/P rs121918126 Orthostatic intolerance (OI) [MIM:604715] SLC6A2 P23975 VAR_011756 p.Val69Ile LB/B rs1805064 - SLC6A2 P23975 VAR_011757 p.Thr99Ile LB/B rs1805065 - SLC6A2 P23975 VAR_011758 p.Val245Ile LB/B rs1805066 - SLC6A2 P23975 VAR_011759 p.Asn292Thr LB/B rs5563 - SLC6A2 P23975 VAR_011760 p.Val356Leu LB/B rs5565 - SLC6A2 P23975 VAR_011761 p.Ala369Pro LB/B rs5566 - SLC6A2 P23975 VAR_011762 p.Asn375Ser LB/B rs5567 - SLC6A2 P23975 VAR_011763 p.Lys463Arg LB/B rs5570 - SLC6A2 P23975 VAR_011764 p.Gly478Ser LB/B rs1805067 - SLC6A2 P23975 VAR_011765 p.Phe528Cys LB/B rs5558 - SLC6A2 P23975 VAR_011766 p.Tyr548His LB/B rs5559 - SLC6A2 P23975 VAR_014800 p.Val449Ile LB/B rs2234910 - SLC6A2 P23975 VAR_020048 p.Thr283Arg LB/B rs45564432 - SLC6A2 P23975 VAR_021861 p.Ile549Thr LB/B rs3743788 - SLC6A2 P23975 VAR_029157 p.Asn7Lys LB/B rs11568323 - SLC6A20 Q9NP91 VAR_021862 p.Ala9Gly LB/B rs2271615 - SLC6A20 Q9NP91 VAR_052068 p.Thr199Met LB/B rs17279437 - SLC6A3 Q01959 VAR_014180 p.Arg237Gln LB/B rs6345 - SLC6A3 Q01959 VAR_036158 p.Gly121Ser US rs760871529 A breast cancer sample SLC6A3 Q01959 VAR_036159 p.Arg544Ser US - A breast cancer sample SLC6A3 Q01959 VAR_063771 p.Leu368Gln LP/P rs267607068 Parkinsonism-dystonia 1, infantile-onset (PKDYS1) [MIM:613135] SLC6A3 Q01959 VAR_063772 p.Pro395Leu LP/P rs267607069 Parkinsonism-dystonia 1, infantile-onset (PKDYS1) [MIM:613135] SLC6A3 Q01959 VAR_064580 p.Val471Ile LB/B rs75916702 - SLC6A4 P31645 VAR_014181 p.Gly56Ala LB/B rs6355 - SLC6A4 P31645 VAR_014182 p.Lys605Asn LB/B rs6352 - SLC6A4 P31645 VAR_026751 p.Ile425Val LB/B rs28914832 - SLC6A4 P31645 VAR_029158 p.Lys201Asn LB/B rs2228673 - SLC6A4 P31645 VAR_036788 p.Ile425Leu LB/B rs28914832 - SLC6A4 P31645 VAR_036789 p.Phe465Leu LB/B rs28914833 - SLC6A4 P31645 VAR_036790 p.Leu550Val LB/B rs28914834 - SLC6A5 Q9Y345 VAR_011591 p.Gln184Arg US - - SLC6A5 Q9Y345 VAR_011592 p.Asp463Asn LB/B rs1805091 - SLC6A5 Q9Y345 VAR_011593 p.Val751Ala US - - SLC6A5 Q9Y345 VAR_036160 p.Val632Glu US - A breast cancer sample SLC6A5 Q9Y345 VAR_044163 p.Ala89Glu LB/B rs61736602 - SLC6A5 Q9Y345 VAR_044164 p.Gly102Ser LB/B rs1443547 - SLC6A5 Q9Y345 VAR_044165 p.Phe124Ser LB/B rs1443548 - SLC6A5 Q9Y345 VAR_044166 p.Ala132Gly LB/B rs34243519 - SLC6A5 Q9Y345 VAR_044167 p.Ala162Gly LB/B rs1443549 - SLC6A5 Q9Y345 VAR_044168 p.Leu306Val LP/P rs121908496 Hyperekplexia 3 (HKPX3) [MIM:614618] SLC6A5 Q9Y345 VAR_044169 p.Thr425Met LP/P rs121908498 Hyperekplexia 3 (HKPX3) [MIM:614618] SLC6A5 Q9Y345 VAR_044170 p.Lys457Asn LB/B rs3740870 - SLC6A5 Q9Y345 VAR_044171 p.Trp482Cys LP/P - Hyperekplexia 3 (HKPX3) [MIM:614618] SLC6A5 Q9Y345 VAR_044172 p.Tyr491Cys LP/P rs121908494 Hyperekplexia 3 (HKPX3) [MIM:614618] SLC6A5 Q9Y345 VAR_044173 p.Tyr499Phe LB/B rs7944684 - SLC6A5 Q9Y345 VAR_044174 p.Asn509Ser LP/P rs121908497 Hyperekplexia 3 (HKPX3) [MIM:614618] SLC6A5 Q9Y345 VAR_044175 p.Ser510Arg LP/P rs281864926 Hyperekplexia 3 (HKPX3) [MIM:614618] SLC6A5 Q9Y345 VAR_044176 p.Gly767Arg LB/B rs16906628 - SLC6A5 Q9Y345 VAR_082588 p.Pro429Leu LP/P rs745539706 Hyperekplexia 3 (HKPX3) [MIM:614618] SLC6A5 Q9Y345 VAR_087307 p.Tyr705Cys LB/B rs143918578 - SLC6A6 P31641 VAR_011767 p.Ile17Met LB/B rs1042350 - SLC6A6 P31641 VAR_011768 p.Leu18Val LB/B rs1042351 - SLC6A6 P31641 VAR_083336 p.Ala78Glu LP/P - Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) [MIM:145350] SLC6A6 P31641 VAR_083337 p.Gly399Val LP/P rs1700769766 Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) [MIM:145350] SLC6A7 Q99884 VAR_011390 p.Leu345Val LB/B rs1468564 - SLC6A8 P48029 VAR_020525 p.Gly87Arg LP/P rs122453115 Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] SLC6A8 P48029 VAR_020526 p.Gly381Arg LP/P rs122453114 Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] SLC6A8 P48029 VAR_020527 p.Pro390Leu LP/P - Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] SLC6A8 P48029 VAR_020529 p.Pro554Leu LP/P rs397515559 Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] SLC6A8 P48029 VAR_034483 p.Thr164Ser LB/B rs642454 - SLC6A8 P48029 VAR_063707 p.Gly132Val LP/P rs122453117 Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] SLC6A8 P48029 VAR_063708 p.Cys337Trp LP/P rs122453116 Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] SLC6A8 P48029 VAR_063709 p.Cys491Trp LP/P rs122453118 Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] SLC6A8 P48029 VAR_063710 p.Met560Val LB/B rs145438966 - SLC6A8 P48029 VAR_071791 p.Tyr80His LP/P - Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] SLC6A8 P48029 VAR_071792 p.Gly383Cys LP/P - Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] SLC6A8 P48029 VAR_071793 p.Ala448Asp LP/P - Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] SLC6A8 P48029 VAR_071794 p.Val539Ile LP/P rs782354054 Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] SLC6A8 P48029 VAR_074262 p.Arg186His LB/B rs372601430 - SLC6A8 P48029 VAR_074263 p.Val270Met LB/B rs146985734 - SLC6A8 P48029 VAR_074264 p.Lys294Gln LB/B rs376937460 - SLC6A8 P48029 VAR_074265 p.Phe314Leu LB/B rs144678921 - SLC6A8 P48029 VAR_074266 p.Ala318Thr LB/B rs373953317 - SLC6A8 P48029 VAR_074267 p.Thr550Ser LB/B rs199635059 - SLC6A8 P48029 VAR_074268 p.Val552Leu US rs372567920 Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] SLC6A8 P48029 VAR_074269 p.Phe564Leu LB/B rs201044530 - SLC6A8 P48029 VAR_074270 p.Ala611Thr LB/B rs146949376 - SLC6A8 P48029 VAR_074271 p.Glu624Lys LB/B rs368555229 - SLC6A8 P48029 VAR_075562 p.Lys4Arg LB/B rs1190261367 - SLC6A8 P48029 VAR_075563 p.Gly26Arg LB/B rs1233444890 - SLC6A8 P48029 VAR_075566 p.Arg391Trp LP/P rs1557045267 Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] SLC6A8 P48029 VAR_075567 p.Val629Ile LB/B rs781899045 - SLC6A8 P48029 VAR_086685 p.Cys181Arg US - Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] SLC6A9 P48067 VAR_078074 p.Ser407Gly LP/P rs1057519313 Glycine encephalopathy with normal serum glycine (GCENSG) [MIM:617301] SLC7A10 Q9NS82 VAR_014282 p.Glu112Asp LB/B rs79717007 - SLC7A10 Q9NS82 VAR_048158 p.Arg413Gln LB/B rs34663170 - SLC7A13 Q8TCU3 VAR_042716 p.Val249Met LB/B rs2976189 - SLC7A13 Q8TCU3 VAR_042717 p.Arg380Lys LB/B rs4419794 - SLC7A13 Q8TCU3 VAR_042718 p.Met452Thr LB/B rs9656982 - SLC7A13 Q8TCU3 VAR_042719 p.Glu470Lys LB/B rs9693999 - SLC7A14 Q8TBB6 VAR_035417 p.Gly330Arg LP/P rs2276717 Retinitis pigmentosa 68 (RP68) [MIM:615725] SLC7A14 Q8TBB6 VAR_071050 p.Ala132Val LP/P rs587777273 Retinitis pigmentosa 68 (RP68) [MIM:615725] SLC7A14 Q8TBB6 VAR_071051 p.Asn209Ser US rs765054383 Retinitis pigmentosa 68 (RP68) [MIM:615725] SLC7A14 Q8TBB6 VAR_071052 p.Met323Ile US - Retinitis pigmentosa 68 (RP68) [MIM:615725] SLC7A14 Q8TBB6 VAR_071053 p.Ser391Leu US rs375705180 Retinitis pigmentosa 68 (RP68) [MIM:615725] SLC7A14 Q8TBB6 VAR_071054 p.Cys464Phe LP/P rs79668755 Retinitis pigmentosa 68 (RP68) [MIM:615725] SLC7A14 Q8TBB6 VAR_071055 p.Arg695Cys US rs181011740 Retinitis pigmentosa 68 (RP68) [MIM:615725] SLC7A14 Q8TBB6 VAR_071056 p.Phe708Val LP/P rs587777272 Retinitis pigmentosa 68 (RP68) [MIM:615725] SLC7A2 P52569 VAR_030799 p.Val20Met LB/B rs12680645 - SLC7A2 P52569 VAR_030800 p.Cys376Phe LB/B rs1134975 - SLC7A2 P52569 VAR_030801 p.Ala531Thr LB/B rs62622371 - SLC7A2 P52569 VAR_058414 p.Gln547Leu LB/B rs1981498 - SLC7A3 Q8WY07 VAR_048154 p.Leu508Val LB/B rs6525447 - SLC7A3 Q8WY07 VAR_064754 p.Met356Lys US - - SLC7A4 O43246 VAR_048155 p.Thr28Ile LB/B rs2072550 - SLC7A4 O43246 VAR_048156 p.Ala349Thr LB/B rs2270384 - SLC7A4 O43246 VAR_060989 p.Phe608Tyr LB/B rs55700350 - SLC7A5 Q01650 VAR_048157 p.Asn230Lys LB/B rs1060250 - SLC7A5 Q01650 VAR_070119 p.Asp223Val LB/B rs17853937 - SLC7A6OS Q96CW6 VAR_032591 p.Val24Met LB/B rs35800405 - SLC7A6OS Q96CW6 VAR_032592 p.Gly45Asp LB/B rs3803650 - SLC7A6OS Q96CW6 VAR_032593 p.Ser116Ala LB/B rs8063446 - SLC7A6OS Q96CW6 VAR_032594 p.Tyr220Cys LB/B rs11548855 - SLC7A6OS Q96CW6 VAR_085257 p.Gln64Arg LP/P rs190706099 Epilepsy, progressive myoclonic 12 (EPM12) [MIM:619191] SLC7A7 Q9UM01 VAR_010261 p.Gly54Val LP/P rs121908677 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_010262 p.Leu334Arg LP/P rs72552272 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_010999 p.Gly338Asp LP/P rs386833795 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_011000 p.Ser386Arg LP/P rs386833799 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_030595 p.Met50Lys LP/P rs386833811 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_030596 p.Thr188Ile LP/P rs386833819 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_030597 p.Ser238Phe LP/P rs386833823 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_030598 p.Arg333Met LP/P rs386833829 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_030599 p.Ser489Pro LP/P rs386833810 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_036609 p.Pro413Ser US - A breast cancer sample SLC7A7 Q9UM01 VAR_039092 p.Thr5Ile LP/P rs386833792 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_039094 p.Ser53Leu LP/P rs386833793 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_039095 p.Ala91Val LB/B rs11568438 - SLC7A7 Q9UM01 VAR_039096 p.Leu124Pro LP/P rs386833814 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_039097 p.Ala140Pro LP/P rs386833815 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_039098 p.Phe152Leu LP/P rs386833816 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_039099 p.Arg159Cys LB/B rs11568437 - SLC7A7 Q9UM01 VAR_039100 p.Lys191Glu LP/P rs386833820 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_039101 p.Glu251Asp LP/P rs386833824 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_039102 p.Leu261Pro LP/P rs386833825 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_039103 p.Asn365Tyr LP/P rs386833797 Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A8 Q9UHI5 VAR_088247 p.Val302Ile LB/B rs142951280 - SLC7A8 Q9UHI5 VAR_088248 p.Thr402Met LB/B rs758342760 - SLC7A8 Q9UHI5 VAR_088249 p.Arg418Cys LB/B rs146946494 - SLC7A8 Q9UHI5 VAR_088250 p.Val460Glu US - - SLC7A9 P82251 VAR_010256 p.Gly105Arg LP/P rs121908480 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_010257 p.Val170Met LP/P rs121908479 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_010258 p.Ala182Thr LP/P rs79389353 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_010259 p.Gly195Arg LP/P rs121908482 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_010260 p.Gly259Arg LP/P rs121908483 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_014363 p.Ile44Thr LP/P rs121908485 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_014364 p.Pro261Leu LP/P rs121908486 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_014365 p.Ala354Thr LP/P rs939028046 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_015885 p.Val330Met LP/P rs201618022 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_018998 p.Pro52Leu LP/P rs1198613438 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_018999 p.Gly63Arg LP/P rs1395997436 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019000 p.Trp69Leu LP/P - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019001 p.Ala70Val LP/P rs769448665 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019002 p.Thr123Met LP/P rs79987078 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019003 p.Ala126Thr LP/P rs372306844 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019005 p.Ile187Phe LP/P rs368441237 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019007 p.Leu223Met LB/B rs1007160 - SLC7A9 P82251 VAR_019008 p.Trp230Arg LP/P - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019009 p.Ile241Thr LP/P rs777371504 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019011 p.Arg333Trp LP/P rs121908484 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019012 p.Ser379Arg LP/P rs142270619 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019013 p.Ala382Thr LP/P rs774878350 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_022603 p.Ala224Val LP/P rs140873167 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_022604 p.Ala331Val LP/P rs768466784 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_048153 p.Val142Ala LB/B rs12150889 - SLC7A9 P82251 VAR_072308 p.Val40Met US - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072309 p.Ser51Phe US - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072310 p.Val62Met LP/P rs964489627 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072311 p.Tyr99His US - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072312 p.Gly105Glu LP/P - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072313 p.Trp114Arg US - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072314 p.Ile120Leu US - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072315 p.Val188Met LP/P rs531029519 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072316 p.Asn227Asp LP/P - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072317 p.Tyr232Cys LP/P rs121908487 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072318 p.Arg250Lys LP/P rs766529640 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072319 p.Leu283Phe LP/P rs1357600282 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072320 p.Ser286Phe US rs755135545 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072321 p.Ala316Val LP/P - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072322 p.Gly319Arg LP/P - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072323 p.Ala324Glu US - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072324 p.Arg333Gln LP/P rs769576205 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072325 p.Lys401Glu US rs760264924 Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072326 p.Leu426Pro US - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_072327 p.Pro482Leu LP/P rs146815072 Cystinuria (CSNU) [MIM:220100] SLC8A1 P32418 VAR_014847 p.Glu692Val LB/B rs5557 - SLC8A2 Q9UPR5 VAR_050226 p.Val429Leu LB/B rs17759929 - SLC8A2 Q9UPR5 VAR_072078 p.Pro29Leu US rs201723439 - SLC8A3 P57103 VAR_036463 p.Glu612Gln US - A breast cancer sample SLC8B1 Q6J4K2 VAR_050224 p.Arg222Cys LB/B rs16942745 - SLC8B1 Q6J4K2 VAR_050225 p.Leu358Phe LB/B rs3764034 - SLC9A1 P19634 VAR_050231 p.Asn682Lys LB/B rs35703140 - SLC9A1 P19634 VAR_073439 p.Gly305Arg LP/P rs786204831 Lichtenstein-Knorr syndrome (LIKNS) [MIM:616291] SLC9A1 P19634 VAR_082153 p.Gly313Glu US - Lichtenstein-Knorr syndrome (LIKNS) [MIM:616291] SLC9A2 Q9UBY0 VAR_035964 p.Thr299Ser US rs1386751319 A breast cancer sample SLC9A2 Q9UBY0 VAR_035965 p.Arg806Gln US - A breast cancer sample SLC9A3 P48764 VAR_060593 p.Cys799Arg LB/B rs2247114 - SLC9A3 P48764 VAR_076419 p.Ala127Thr US rs1047334552 Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868] SLC9A3 P48764 VAR_076420 p.Ala269Thr LP/P rs869312807 Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868] SLC9A3 P48764 VAR_076421 p.Ala311Val LP/P rs869312806 Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868] SLC9A3 P48764 VAR_076422 p.Arg382Gln LP/P rs766076524 Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868] SLC9A3 P48764 VAR_088073 p.Glu347Lys US - Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868] SLC9A4 Q6AI14 VAR_056209 p.Gly116Ser LB/B rs17027275 - SLC9A4 Q6AI14 VAR_056210 p.Ile581Val LB/B rs6742280 - SLC9A6 Q92581 VAR_083536 p.Gly218Arg LP/P - Intellectual developmental disorder, X-linked, syndromic, Christianson type (MRXSCH) [MIM:300243] SLC9A6 Q92581 VAR_087516 p.Ala9Ser US - - SLC9A6 Q92581 VAR_087517 p.Leu188Pro LP/P - Intellectual developmental disorder, X-linked, syndromic, Christianson type (MRXSCH) [MIM:300243] SLC9A6 Q92581 VAR_087518 p.Gly383Asp LP/P - Intellectual developmental disorder, X-linked, syndromic, Christianson type (MRXSCH) [MIM:300243] SLC9A6 Q92581 VAR_087520 p.Arg568Gln US - - SLC9A7 Q96T83 VAR_082101 p.Leu515Phe LP/P - Intellectual developmental disorder, X-linked 108 (MRX108) [MIM:301024] SLC9A9 Q8IVB4 VAR_022114 p.Ile589Val LB/B rs2289491 - SLC9A9 Q8IVB4 VAR_050232 p.Ile540Val LB/B rs16853300 - SLC9B1 Q4ZJI4 VAR_061370 p.Gln33His LB/B rs2715591 - SLC9B2 Q86UD5 VAR_042751 p.Ile159Thr LB/B rs7672710 - SLC9B2 Q86UD5 VAR_042752 p.Val161Ala LB/B rs7672707 - SLC9B2 Q86UD5 VAR_042753 p.Phe357Cys LB/B rs2276976 - SLC9C1 Q4G0N8 VAR_033324 p.Ile158Val LB/B rs9828502 - SLC9C1 Q4G0N8 VAR_033325 p.Ile286Val LB/B rs9872691 - SLC9C1 Q4G0N8 VAR_033326 p.Ile348Met LB/B rs9809404 - SLC9C1 Q4G0N8 VAR_033327 p.Thr424Ala LB/B rs6768523 - SLC9C1 Q4G0N8 VAR_033328 p.Thr705Ile LB/B rs4434123 - SLC9C1 Q4G0N8 VAR_033329 p.Gln732Lys LB/B rs6781844 - SLC9C1 Q4G0N8 VAR_033330 p.Ser768Ile LB/B rs9288938 - SLC9C1 Q4G0N8 VAR_050233 p.Ile364Val LB/B rs9809384 - SLC9C1 Q4G0N8 VAR_061369 p.Gly826Ser LB/B rs28516377 - SLC9C2 Q5TAH2 VAR_033331 p.Thr481Met LB/B rs7551131 - SLC9C2 Q5TAH2 VAR_033332 p.Ala505Gly LB/B rs16846206 - SLC9C2 Q5TAH2 VAR_033333 p.Arg934Ser LB/B rs17854214 - SLCO1A2 P46721 VAR_020289 p.Asn128Tyr LB/B rs11568567 - SLCO1A2 P46721 VAR_020290 p.Asn135Ile LB/B rs45502302 - SLCO1A2 P46721 VAR_020291 p.Glu172Asp LB/B rs11568563 - SLCO1A2 P46721 VAR_020292 p.Ile355Val LB/B rs45628437 - SLCO1A2 P46721 VAR_020293 p.Thr668Ser LB/B rs11568557 - SLCO1A2 P46721 VAR_024644 p.Ile13Thr LB/B rs10841795 - SLCO1A2 P46721 VAR_036409 p.Val220Ile US - A colorectal cancer sample SLCO1A2 P46721 VAR_036823 p.Ala187Thr LB/B rs750165758 - SLCO1B1 Q9Y6L6 VAR_015070 p.Phe73Leu LB/B rs56101265 - SLCO1B1 Q9Y6L6 VAR_015071 p.Val82Ala LB/B rs56061388 - SLCO1B1 Q9Y6L6 VAR_015072 p.Asn130Asp LB/B rs2306283 - SLCO1B1 Q9Y6L6 VAR_015073 p.Arg152Lys LB/B - - SLCO1B1 Q9Y6L6 VAR_015074 p.Pro155Thr LB/B rs11045819 - SLCO1B1 Q9Y6L6 VAR_015075 p.Glu156Gly LB/B rs72559745 - SLCO1B1 Q9Y6L6 VAR_015076 p.Val174Ala LB/B rs4149056 - SLCO1B1 Q9Y6L6 VAR_015077 p.Leu193Arg LB/B rs72559746 - SLCO1B1 Q9Y6L6 VAR_015078 p.Asp241Asn LB/B rs751709893 - SLCO1B1 Q9Y6L6 VAR_015079 p.Ile353Thr LB/B rs55901008 - SLCO1B1 Q9Y6L6 VAR_015080 p.Asn432Asp LB/B rs56387224 - SLCO1B1 Q9Y6L6 VAR_015081 p.Asp462Gly LB/B rs72559748 - SLCO1B1 Q9Y6L6 VAR_015082 p.Gly488Ala LB/B rs59502379 - SLCO1B1 Q9Y6L6 VAR_015083 p.Asp655Gly LB/B rs56199088 - SLCO1B1 Q9Y6L6 VAR_015084 p.Glu667Gly LB/B rs55737008 - SLCO1B1 Q9Y6L6 VAR_057724 p.Asn151Ser LB/B rs2306282 - SLCO1B1 Q9Y6L6 VAR_057725 p.Leu643Phe LB/B rs34671512 - SLCO1B1 Q9Y6L6 VAR_060108 p.Ile245Val LB/B rs11045852 - SLCO1B3 Q9NPD5 VAR_024645 p.Ser112Ala LB/B rs4149117 - SLCO1B3 Q9NPD5 VAR_036410 p.Ile292Met US - A colorectal cancer sample SLCO1B3 Q9NPD5 VAR_036411 p.Met647Leu US rs556554798 A colorectal cancer sample SLCO1B3 Q9NPD5 VAR_053672 p.Met233Ile LB/B rs7311358 - SLCO1B3 Q9NPD5 VAR_053673 p.Val560Ala LB/B rs12299012 - SLCO1B3 Q9NPD5 VAR_062150 p.Gly256Ala LB/B rs60140950 - SLCO2A1 Q92959 VAR_053674 p.Ala396Thr LB/B rs34550074 - SLCO2A1 Q92959 VAR_067598 p.Gly222Arg LP/P rs774795340 Hypertrophic osteoarthropathy, primary, autosomal dominant (PHOAD) [MIM:167100] SLCO2A1 Q92959 VAR_067598 p.Gly222Arg LP/P rs774795340 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_067599 p.Gly255Glu LP/P rs387906806 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_068352 p.Phe557Ser LP/P - Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_068636 p.Ile85Phe LP/P rs387907296 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_068637 p.Arg97His LP/P rs1376989560 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_068638 p.Gly181Ala LP/P - Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_068639 p.Gly181Asp LP/P - Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_068640 p.Ser204Leu LP/P rs555934769 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_068641 p.Gly255Arg LP/P - Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_068642 p.Cys420Phe LP/P rs387907295 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_068643 p.Arg445Cys LB/B rs146970901 - SLCO2A1 Q92959 VAR_068644 p.Gln556His LP/P - Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_068645 p.Trp565Gly LP/P - Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_085956 p.Gly181Arg LP/P - Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_085958 p.Phe328Ser US - Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_085959 p.Gly369Asp US - Hypertrophic osteoarthropathy, primary, autosomal dominant (PHOAD) [MIM:167100] SLCO2A1 Q92959 VAR_085959 p.Gly369Asp US - Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_085960 p.Pro374Leu US - Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_085961 p.Gly379Glu US - Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_085962 p.Glu465Lys US rs779203269 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] SLCO2A1 Q92959 VAR_085963 p.Gly554Arg US - Hypertrophic osteoarthropathy, primary, autosomal dominant (PHOAD) [MIM:167100] SLCO2B1 O94956 VAR_020294 p.Ser486Phe LB/B rs2306168 - SLCO2B1 O94956 VAR_036412 p.Glu77Lys US rs865987804 A breast cancer sample SLCO2B1 O94956 VAR_053675 p.Val201Met LB/B rs35199625 - SLCO2B1 O94956 VAR_053676 p.Arg312Gln LB/B rs12422149 - SLCO2B1 O94956 VAR_053677 p.Thr392Ile LB/B rs1621378 - SLCO3A1 Q9UIG8 VAR_054853 p.Glu294Asp LB/B rs1517618 - SLCO4A1 Q96BD0 VAR_053678 p.Arg70Gln LB/B rs34419428 - SLCO4A1 Q96BD0 VAR_053679 p.Val78Ile LB/B rs1047099 - SLCO5A1 Q9H2Y9 VAR_022041 p.Leu33Phe LB/B rs3750266 - SLCO6A1 Q86UG4 VAR_036622 p.Ala27Val LB/B rs13190449 - SLCO6A1 Q86UG4 VAR_036623 p.Lys381Arg LB/B rs17150488 - SLCO6A1 Q86UG4 VAR_036624 p.Thr654Arg LB/B rs10055840 - SLCO6A1 Q86UG4 VAR_053680 p.Pro527Ala LB/B rs10073333 - SLF1 Q9BQI6 VAR_059120 p.Ser288Arg LB/B rs6891545 - SLF2 Q8IX21 VAR_023112 p.Ser541Tyr LB/B rs10883563 - SLF2 Q8IX21 VAR_087946 p.Asn861Ile LP/P - Atelis syndrome 1 (ATELS1) [MIM:620184] SLF2 Q8IX21 VAR_087993 p.Ser271Cys US - - SLFN11 Q7Z7L1 VAR_031492 p.Val121Phe LB/B rs12453150 - SLFN11 Q7Z7L1 VAR_031493 p.Asn301Asp LB/B rs4796077 - SLFN11 Q7Z7L1 VAR_031494 p.Tyr822Cys LB/B rs3803860 - SLFN11 Q7Z7L1 VAR_062186 p.Arg489Leu LB/B rs9898983 - SLFN12 Q8IYM2 VAR_031447 p.Ser43Arg LB/B rs1849733 - SLFN12 Q8IYM2 VAR_031448 p.Cys168Arg LB/B rs2586514 - SLFN12 Q8IYM2 VAR_053877 p.Ser448Pro LB/B rs12946189 - SLFN12L Q6IEE8 VAR_043551 p.Leu275Ser LB/B rs12451679 - SLFN12L Q6IEE8 VAR_043552 p.Ala373Gly LB/B rs2304967 - SLFN12L Q6IEE8 VAR_043553 p.Cys430Tyr LB/B rs777316634 - SLFN12L Q6IEE8 VAR_043554 p.Tyr518Ser LB/B rs3744372 - SLFN13 Q68D06 VAR_031449 p.Asn4Ser LB/B rs12943866 - SLFN13 Q68D06 VAR_031450 p.Ala50Thr LB/B rs7216628 - SLFN13 Q68D06 VAR_031451 p.Glu652Lys LB/B rs3744371 - SLFN13 Q68D06 VAR_053878 p.Pro433Leu LB/B rs16970912 - SLFN13 Q68D06 VAR_053879 p.Asp642Val LB/B rs11657183 - SLFN14 P0C7P3 VAR_044177 p.Gln93Arg LB/B rs10512472 - SLFN14 P0C7P3 VAR_044178 p.Lys385Glu LB/B rs321612 - SLFN14 P0C7P3 VAR_044179 p.Gly870Ser LB/B rs1350011 - SLFN14 P0C7P3 VAR_044180 p.Ser880Ile LB/B rs1350010 - SLFN14 P0C7P3 VAR_044181 p.Leu905Phe LB/B rs9907259 - SLFN14 P0C7P3 VAR_044182 p.Tyr912Phe LB/B rs8073060 - SLFN14 P0C7P3 VAR_075786 p.Lys218Glu LP/P rs869320716 Bleeding disorder, platelet-type, 20 (BDPLT20) [MIM:616913] SLFN14 P0C7P3 VAR_075787 p.Lys219Asn LP/P rs869320715 Bleeding disorder, platelet-type, 20 (BDPLT20) [MIM:616913] SLFN14 P0C7P3 VAR_075788 p.Val220Asp LP/P rs869320714 Bleeding disorder, platelet-type, 20 (BDPLT20) [MIM:616913] SLFN14 P0C7P3 VAR_076796 p.Arg223Trp LP/P rs757188030 Bleeding disorder, platelet-type, 20 (BDPLT20) [MIM:616913] SLFN5 Q08AF3 VAR_031445 p.Pro787Leu LB/B rs11651240 - SLFN5 Q08AF3 VAR_031446 p.Ala797Val LB/B rs2291189 - SLFN5 Q08AF3 VAR_053876 p.Val754Leu LB/B rs16970806 - SLFNL1 Q499Z3 VAR_031459 p.Ala30Thr LB/B rs1138293 - SLFNL1 Q499Z3 VAR_031460 p.Arg128Ser LB/B rs17851964 - SLFNL1 Q499Z3 VAR_031461 p.Arg144Thr LB/B rs3738368 - SLIT1 O75093 VAR_049003 p.Pro824Leu LB/B rs2817673 - SLIT2 O94813 VAR_018098 p.Ser636Pro LB/B - - SLIT2 O94813 VAR_018099 p.Ser1277Phe LB/B rs771375896 - SLIT3 O75094 VAR_020168 p.Glu994Gly LB/B rs2305993 - SLIT3 O75094 VAR_021905 p.Arg395Gln LB/B rs2288792 - SLIT3 O75094 VAR_024265 p.Gly618Ser LB/B rs10036727 - SLIT3 O75094 VAR_049004 p.Val371Ala LB/B rs891921 - SLIT3 O75094 VAR_049005 p.Arg810Gln LB/B rs36052924 - SLIT3 O75094 VAR_049006 p.Pro1064Ala LB/B rs10072243 - SLITRK1 Q96PX8 VAR_027755 p.Leu552Met LB/B rs7491932 - SLITRK1 Q96PX8 VAR_077626 p.Asn400Ile US - - SLITRK1 Q96PX8 VAR_077627 p.Thr418Ser LB/B rs150504822 - SLITRK1 Q96PX8 VAR_077628 p.Arg584Lys US rs1035448844 Trichotillomania (TTM) [MIM:613229] SLITRK1 Q96PX8 VAR_077629 p.Ser593Gly US rs1368546312 Trichotillomania (TTM) [MIM:613229] SLITRK2 Q9H156 VAR_027756 p.Ser601Pro LB/B rs2295336 - SLITRK2 Q9H156 VAR_077630 p.Val89Met US rs1402893590 - SLITRK2 Q9H156 VAR_077631 p.Ser549Phe US rs1239180055 - SLITRK2 Q9H156 VAR_088525 p.Ser9Ile US - - SLITRK2 Q9H156 VAR_088526 p.Gly15Glu US - - SLITRK2 Q9H156 VAR_088527 p.Leu74Ser LP/P - Intellectual developmental disorder, X-linked 111 (XLID111) [MIM:301107] SLITRK2 Q9H156 VAR_088528 p.Val201Ile US - - SLITRK2 Q9H156 VAR_088529 p.Glu210Lys US - Intellectual developmental disorder, X-linked 111 (XLID111) [MIM:301107] SLITRK2 Q9H156 VAR_088530 p.Pro311Ala US - - SLITRK2 Q9H156 VAR_088531 p.Thr312Ala LP/P - Intellectual developmental disorder, X-linked 111 (XLID111) [MIM:301107] SLITRK2 Q9H156 VAR_088532 p.Ser323Asn LB/B rs150059944 - SLITRK2 Q9H156 VAR_088533 p.Pro374Arg LP/P - Intellectual developmental disorder, X-linked 111 (XLID111) [MIM:301107] SLITRK2 Q9H156 VAR_088534 p.Arg426Cys LP/P - Intellectual developmental disorder, X-linked 111 (XLID111) [MIM:301107] SLITRK2 Q9H156 VAR_088536 p.Arg484Gln US - - SLITRK2 Q9H156 VAR_088537 p.Val511Met US - Intellectual developmental disorder, X-linked 111 (XLID111) [MIM:301107] SLITRK2 Q9H156 VAR_088538 p.Glu555Asp US - - SLITRK2 Q9H156 VAR_088539 p.Val589Ile LB/B rs368512221 - SLITRK2 Q9H156 VAR_088540 p.Arg792Cys US - - SLITRK3 O94933 VAR_027757 p.Ile605Val LB/B rs3828419 - SLITRK4 Q8IW52 VAR_036602 p.Val206Ile US rs143575705 - SLITRK4 Q8IW52 VAR_077632 p.Ile578Val US rs781863874 - SLITRK6 Q9H5Y7 VAR_027758 p.Leu25Phe LB/B rs12863734 - SLITRK6 Q9H5Y7 VAR_027759 p.Pro315Arg LB/B rs9547378 - SLITRK6 Q9H5Y7 VAR_027760 p.Gln414Arg LB/B rs17080147 - SLK Q9H2G2 VAR_041080 p.Gln405Lys US - A lung adenocarcinoma sample SLK Q9H2G2 VAR_041081 p.Cys552Tyr LB/B rs805657 - SLK Q9H2G2 VAR_041082 p.Glu604Gln US rs190220654 An ovarian serous carcinoma sample SLK Q9H2G2 VAR_041083 p.Ala658Gly LB/B rs56400929 - SLK Q9H2G2 VAR_041084 p.Ile679Thr LB/B rs34326537 - SLK Q9H2G2 VAR_041085 p.Lys683Asn LB/B rs35389916 - SLK Q9H2G2 VAR_041086 p.Thr697Ile LB/B rs3740469 - SLK Q9H2G2 VAR_051666 p.Gly666Glu LB/B rs7071400 - SLTM Q9NWH9 VAR_037088 p.Val235Leu LB/B rs7175939 - SLU7 O95391 VAR_032598 p.Ile111Val LB/B rs17856338 - SLU7 O95391 VAR_032599 p.Met229Thr LB/B rs2961944 - SLURP1 P55000 VAR_032871 p.Trp15Arg LP/P rs121908318 Mal de Meleda (MDM) [MIM:248300] SLURP1 P55000 VAR_032872 p.Arg71His LP/P rs1448017161 Mal de Meleda (MDM) [MIM:248300] SLURP1 P55000 VAR_032873 p.Cys77Arg LP/P rs121908319 Mal de Meleda (MDM) [MIM:248300] SLURP1 P55000 VAR_032874 p.Gly86Arg LP/P rs28937888 Mal de Meleda (MDM) [MIM:248300] SLURP1 P55000 VAR_032875 p.Cys99Tyr LP/P rs121908320 Mal de Meleda (MDM) [MIM:248300] SLURP1 P55000 VAR_077307 p.Arg71Pro LP/P - Mal de Meleda (MDM) [MIM:248300] SLURP1 P55000 VAR_077308 p.Pro82Ser US rs1181208026 Mal de Meleda (MDM) [MIM:248300] SLURP1 P55000 VAR_077309 p.Cys94Ser LP/P rs772388665 Mal de Meleda (MDM) [MIM:248300] SLURP1 P55000 VAR_077310 p.Leu98Pro LP/P - Mal de Meleda (MDM) [MIM:248300] SLX4 Q8IY92 VAR_019326 p.Pro1122Leu LB/B rs714181 - SLX4 Q8IY92 VAR_019327 p.Ser1271Phe LB/B rs3810813 - SLX4 Q8IY92 VAR_019729 p.Ala1221Val LB/B rs3827530 - SLX4 Q8IY92 VAR_046337 p.Ala1367Thr LB/B rs17136464 - SLX4 Q8IY92 VAR_046338 p.Pro1677Ser LB/B rs7196345 - SLX4 Q8IY92 VAR_068982 p.Leu38Phe LB/B rs141167501 - SLX4 Q8IY92 VAR_068983 p.Gly141Trp LB/B rs137976282 - SLX4 Q8IY92 VAR_068984 p.Val197Ala LB/B rs147826749 - SLX4 Q8IY92 VAR_068985 p.Arg204Cys LB/B rs79842542 - SLX4 Q8IY92 VAR_068986 p.Arg237Gln LB/B rs138615800 - SLX4 Q8IY92 VAR_068987 p.His284Arg LB/B - - SLX4 Q8IY92 VAR_068988 p.Pro378Thr US - - SLX4 Q8IY92 VAR_068989 p.Pro385Thr LB/B rs115694169 - SLX4 Q8IY92 VAR_068990 p.Met386Val LB/B rs113490934 - SLX4 Q8IY92 VAR_068991 p.Ala424Val LB/B rs551823420 - SLX4 Q8IY92 VAR_068992 p.Asn457Lys LB/B rs74319927 - SLX4 Q8IY92 VAR_068993 p.Lys458Glu LB/B rs149126845 - SLX4 Q8IY92 VAR_068994 p.Ala505Thr LB/B rs2040676569 - SLX4 Q8IY92 VAR_068995 p.Ser506Asn LB/B rs765859186 - SLX4 Q8IY92 VAR_068996 p.Val568Met LB/B rs371825444 - SLX4 Q8IY92 VAR_068997 p.Leu579Pro LB/B rs772504776 - SLX4 Q8IY92 VAR_068998 p.Leu671Ser LB/B rs77985244 - SLX4 Q8IY92 VAR_068999 p.Glu787Lys LB/B rs140600202 - SLX4 Q8IY92 VAR_069000 p.Ala870Val LB/B rs149584080 - SLX4 Q8IY92 VAR_069001 p.Val894Gly LB/B rs145137472 - SLX4 Q8IY92 VAR_069002 p.Pro929Leu LB/B rs117707719 - SLX4 Q8IY92 VAR_069003 p.Glu942Gln LB/B rs114014006 - SLX4 Q8IY92 VAR_069004 p.Ala952Met LB/B rs863224277 - SLX4 Q8IY92 VAR_069005 p.Pro975Leu LB/B rs114472821 - SLX4 Q8IY92 VAR_069006 p.Gln1007Lys LB/B rs138798067 - SLX4 Q8IY92 VAR_069007 p.Arg1060Trp LB/B rs144273492 - SLX4 Q8IY92 VAR_069008 p.Ser1123Tyr LB/B rs144647122 - SLX4 Q8IY92 VAR_069009 p.Ala1286Val LB/B rs149011965 - SLX4 Q8IY92 VAR_069010 p.Val1287Gly LB/B rs1596520811 - SLX4 Q8IY92 VAR_069011 p.Ser1342Gly LB/B rs140051968 - SLX4 Q8IY92 VAR_069012 p.Ile1421Phe LB/B rs141567438 - SLX4 Q8IY92 VAR_069013 p.Thr1476Ser LB/B rs372321470 - SLX4 Q8IY92 VAR_069014 p.Arg1550Trp LB/B rs77021998 - SLX4 Q8IY92 VAR_069015 p.Ala1694Val LB/B rs761226343 - SLX4 Q8IY92 VAR_069016 p.Arg1814Cys LB/B rs767720336 - SLX4 Q8IY92 VAR_069017 p.Asn1834Ser LB/B rs111738042 - SLX4IP Q5VYV7 VAR_035277 p.Arg317Gln LB/B rs6077853 - SLX9 Q9NSI2 VAR_021949 p.Val212Leu LB/B rs3737075 - SMAD1 Q15797 VAR_066869 p.Val3Ala US rs587777018 - SMAD2 Q15796 VAR_011375 p.Arg133Cys US - A colorectal carcinoma sample SMAD2 Q15796 VAR_011377 p.Leu440Arg US - A colorectal carcinoma sample SMAD2 Q15796 VAR_011378 p.Pro445His US - A colorectal carcinoma sample SMAD2 Q15796 VAR_011379 p.Asp450Glu US - A colorectal carcinoma sample SMAD2 Q15796 VAR_036473 p.Asp300Val US - A colorectal cancer sample SMAD2 Q15796 VAR_086574 p.Trp274Cys LP/P - Congenital heart defects, multiple types, 8, with or without heterotaxy (CHTD8) [MIM:619657] SMAD2 Q15796 VAR_086575 p.Ala278Val US - Loeys-Dietz syndrome 6 (LDS6) [MIM:619656] SMAD2 Q15796 VAR_086576 p.Cys312Ser LP/P - Congenital heart defects, multiple types, 8, with or without heterotaxy (CHTD8) [MIM:619657] SMAD2 Q15796 VAR_086577 p.Asn318Lys US - - SMAD2 Q15796 VAR_086578 p.Asn361Thr US - Loeys-Dietz syndrome 6 (LDS6) [MIM:619656] SMAD2 Q15796 VAR_086579 p.Gln388Arg US - Loeys-Dietz syndrome 6 (LDS6) [MIM:619656] SMAD2 Q15796 VAR_086580 p.Ser397Tyr US - Loeys-Dietz syndrome 6 (LDS6) [MIM:619656] SMAD2 Q15796 VAR_086581 p.Leu449Ser US - Loeys-Dietz syndrome 6 (LDS6) [MIM:619656] SMAD2 Q15796 VAR_086582 p.Gly457Arg LP/P - Loeys-Dietz syndrome 6 (LDS6) [MIM:619656] SMAD2 Q15796 VAR_086583 p.Ser467Leu US - - SMAD3 P84022 VAR_036474 p.Pro393Leu US - A colorectal cancer sample SMAD3 P84022 VAR_052021 p.Ile170Val LB/B rs35874463 - SMAD3 P84022 VAR_065578 p.Thr261Ile LP/P rs387906851 Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] SMAD3 P84022 VAR_065579 p.Arg287Trp LP/P rs387906850 Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] SMAD3 P84022 VAR_067047 p.Glu239Lys LP/P rs387906853 Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] SMAD3 P84022 VAR_067048 p.Arg279Lys LP/P rs387906852 Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] SMAD3 P84022 VAR_067051 p.Ala112Val LP/P rs387906854 Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] SMAD4 Q13485 VAR_011380 p.Asp493His US rs121912578 Pancreatic carcinoma SMAD4 Q13485 VAR_019571 p.Gly352Arg LP/P rs121912581 Juvenile polyposis syndrome (JPS) [MIM:174900] SMAD4 Q13485 VAR_019571 p.Gly352Arg LP/P rs121912581 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050] SMAD4 Q13485 VAR_019572 p.Arg361Cys LP/P rs80338963 Juvenile polyposis syndrome (JPS) [MIM:174900] SMAD4 Q13485 VAR_019573 p.Gly386Asp LP/P rs121912580 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050] SMAD4 Q13485 VAR_022833 p.Glu330Gly LP/P rs281875324 Juvenile polyposis syndrome (JPS) [MIM:174900] SMAD4 Q13485 VAR_036475 p.Pro130Ser US rs1555685186 A colorectal cancer sample SMAD4 Q13485 VAR_036476 p.Asp351Asn US rs1057519739 A colorectal cancer sample SMAD4 Q13485 VAR_036477 p.Arg361His US rs377767347 A colorectal cancer sample SMAD4 Q13485 VAR_066870 p.Asn13Ser US rs281875323 - SMAD4 Q13485 VAR_067602 p.Ile500Met LP/P rs281875320 Myhre syndrome (MYHRS) [MIM:139210] SMAD4 Q13485 VAR_067603 p.Ile500Thr LP/P rs281875321 Myhre syndrome (MYHRS) [MIM:139210] SMAD4 Q13485 VAR_067604 p.Ile500Val LP/P rs281875322 Myhre syndrome (MYHRS) [MIM:139210] SMAD5-AS1 Q9Y6J3 VAR_020103 p.Lys85Asn LB/B rs3764941 - SMAD6 O43541 VAR_068074 p.Ala325Thr LB/B rs199822239 - SMAD6 O43541 VAR_068075 p.Pro415Leu LP/P rs387907284 Aortic valve disease 2 (AOVD2) [MIM:614823] SMAD6 O43541 VAR_068076 p.Cys484Phe LP/P rs387907283 Aortic valve disease 2 (AOVD2) [MIM:614823] SMAD6 O43541 VAR_077592 p.Thr306Ala LP/P - Craniosynostosis 7 (CRS7) [MIM:617439] SMAD6 O43541 VAR_077593 p.Pro323Leu LP/P rs1374099442 Craniosynostosis 7 (CRS7) [MIM:617439] SMAD6 O43541 VAR_077594 p.Gly390Cys LP/P - Craniosynostosis 7 (CRS7) [MIM:617439] SMAD6 O43541 VAR_077595 p.Arg465Cys LP/P rs761888345 Craniosynostosis 7 (CRS7) [MIM:617439] SMAD6 O43541 VAR_078925 p.Glu287Lys US rs570279865 Craniosynostosis 7 (CRS7) [MIM:617439] SMAD6 O43541 VAR_078928 p.Ile490Thr LP/P rs1338294058 Craniosynostosis 7 (CRS7) [MIM:617439] SMAD6 O43541 VAR_084472 p.Ser187Leu US rs1359442505 Radioulnar synostosis, non-syndromic (RUS) [MIM:179300] SMAD6 O43541 VAR_084473 p.Gly204Ala US rs768542939 Aortic valve disease 2 (AOVD2) [MIM:614823] SMAD6 O43541 VAR_084474 p.Cys205Ser US rs1595757271 Radioulnar synostosis, non-syndromic (RUS) [MIM:179300] SMAD6 O43541 VAR_084475 p.Arg231Gly US rs1395007983 Aortic valve disease 2 (AOVD2) [MIM:614823] SMAD6 O43541 VAR_084476 p.Arg231Pro US rs1419095990 Aortic valve disease 2 (AOVD2) [MIM:614823] SMAD6 O43541 VAR_084477 p.Ser267Asn US rs1396117157 Radioulnar synostosis, non-syndromic (RUS) [MIM:179300] SMAD6 O43541 VAR_084481 p.Ala335Glu US rs900988907 Aortic valve disease 2 (AOVD2) [MIM:614823] SMAD6 O43541 VAR_084482 p.His339Pro US rs142278375 Radioulnar synostosis, non-syndromic (RUS) [MIM:179300] SMAD6 O43541 VAR_084484 p.Gln370Arg US rs1567115899 Radioulnar synostosis, non-syndromic (RUS) [MIM:179300] SMAD6 O43541 VAR_084487 p.Gly471Asp US rs1595805424 Radioulnar synostosis, non-syndromic (RUS) [MIM:179300] SMAD9 O15198 VAR_066871 p.Lys43Glu LP/P rs397514715 Pulmonary hypertension, primary, 2 (PPH2) [MIM:615342] SMAP1 Q8IYB5 VAR_048326 p.Ala212Val LB/B rs2273566 - SMAP2 Q8WU79 VAR_048327 p.Ala289Thr LB/B rs34845213 - SMARCA1 P28370 VAR_001242 p.Gln656Arg LB/B rs1134838 - SMARCA1 P28370 VAR_079028 p.Gly978Val US - - SMARCA2 P51531 VAR_049501 p.Gly1416Ala LB/B rs3793510 - SMARCA2 P51531 VAR_049502 p.Asp1546Glu LB/B rs2296212 - SMARCA2 P51531 VAR_068180 p.Gly752Ala LP/P rs281875198 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068181 p.Lys755Arg LP/P rs281875203 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068182 p.Thr756Ile LP/P rs281875191 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068183 p.Asp851His LP/P rs281875206 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068184 p.Glu852Asp LP/P rs281875193 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068185 p.Glu852Lys LP/P rs281875199 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068186 p.His854Asn LP/P - Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068187 p.His854Arg LP/P rs281875202 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068188 p.Arg855Gly LP/P rs281875207 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068189 p.Gly881Arg LP/P rs281875194 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068190 p.Gly881Val LP/P rs281875185 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068191 p.Pro883Leu LP/P rs281875188 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068192 p.His939Tyr LP/P rs281875190 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068193 p.Leu946Phe LP/P rs281875205 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068194 p.Leu946Ser LP/P rs281875200 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068195 p.Arg1105Cys LP/P rs281875192 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068196 p.Arg1105Pro LP/P rs281875197 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068197 p.Leu1135Pro LP/P rs281875195 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068198 p.Ser1146Arg LP/P rs281875204 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068199 p.Asp1158Val LP/P rs281875240 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068200 p.Arg1159Gly LP/P rs281875184 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068201 p.Arg1159Leu LP/P rs281875187 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068202 p.Arg1159Gln LP/P rs281875187 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068203 p.Arg1162His LP/P rs281875186 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068204 p.Ala1188Pro LP/P rs281875196 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068205 p.Ala1201Val LP/P rs281875189 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068206 p.Gly1202Cys LP/P rs281875239 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068207 p.Asp1205Gly LP/P rs281875201 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_068208 p.Arg1213Trp LP/P rs281875238 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_076936 p.Arg855Gln LP/P rs1471482709 Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_076937 p.Thr880Ile LP/P - Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_078815 p.Gln1241Glu LP/P - Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] SMARCA2 P51531 VAR_085660 p.His484Asn US - - SMARCA2 P51531 VAR_085661 p.Asn486Lys US - - SMARCA2 P51531 VAR_085662 p.Arg505Gln LP/P - Blepharophimosis-impaired intellectual development syndrome (BIS) [MIM:619293] SMARCA2 P51531 VAR_085663 p.Gly513Val LP/P - Blepharophimosis-impaired intellectual development syndrome (BIS) [MIM:619293] SMARCA2 P51531 VAR_085664 p.Arg525Cys LP/P - Blepharophimosis-impaired intellectual development syndrome (BIS) [MIM:619293] SMARCA2 P51531 VAR_085665 p.Arg525His LP/P - Blepharophimosis-impaired intellectual development syndrome (BIS) [MIM:619293] SMARCA2 P51531 VAR_085666 p.Leu529Val LP/P - Blepharophimosis-impaired intellectual development syndrome (BIS) [MIM:619293] SMARCA2 P51531 VAR_085667 p.Asp534Asn LP/P - Blepharophimosis-impaired intellectual development syndrome (BIS) [MIM:619293] SMARCA2 P51531 VAR_085668 p.Leu719Pro US - - SMARCA2 P51531 VAR_085669 p.Glu929Val LP/P - Blepharophimosis-impaired intellectual development syndrome (BIS) [MIM:619293] SMARCA2 P51531 VAR_085670 p.Ile932Thr US - - SMARCA2 P51531 VAR_085671 p.Arg937Cys LP/P - Blepharophimosis-impaired intellectual development syndrome (BIS) [MIM:619293] SMARCA2 P51531 VAR_085672 p.Arg937His LP/P - Blepharophimosis-impaired intellectual development syndrome (BIS) [MIM:619293] SMARCA2 P51531 VAR_085673 p.Arg937Leu LP/P - Blepharophimosis-impaired intellectual development syndrome (BIS) [MIM:619293] SMARCA2 P51531 VAR_085674 p.Lys1014Glu US - - SMARCA4 P51532 VAR_028215 p.Val561Glu LB/B rs1804579 - SMARCA4 P51532 VAR_028216 p.Met1036Ile LB/B rs1801514 - SMARCA4 P51532 VAR_068210 p.Thr859Met LP/P rs281875226 Coffin-Siris syndrome 4 (CSS4) [MIM:614609] SMARCA4 P51532 VAR_068211 p.Arg885Cys LP/P rs281875227 Coffin-Siris syndrome 4 (CSS4) [MIM:614609] SMARCA4 P51532 VAR_068212 p.Leu921Phe LP/P rs281875228 Coffin-Siris syndrome 4 (CSS4) [MIM:614609] SMARCA4 P51532 VAR_068213 p.Met1011Thr LP/P rs281875229 Coffin-Siris syndrome 4 (CSS4) [MIM:614609] SMARCA4 P51532 VAR_068214 p.Arg1157Gly LP/P rs281875230 Coffin-Siris syndrome 4 (CSS4) [MIM:614609] SMARCAD1 Q9H4L7 VAR_028037 p.Ser66Phe LB/B rs11723410 - SMARCAD1 Q9H4L7 VAR_028038 p.Leu135Phe LB/B rs2664891 - SMARCAD1 Q9H4L7 VAR_028039 p.Arg140Cys LB/B rs2632398 - SMARCAD1 Q9H4L7 VAR_028040 p.Ser245Tyr LB/B rs3103117 - SMARCAD1 Q9H4L7 VAR_028041 p.Ser247Asn LB/B rs11722476 - SMARCAD1 Q9H4L7 VAR_028042 p.Val301Ala LB/B rs7439869 - SMARCAD1 Q9H4L7 VAR_028043 p.Pro351Gln LB/B rs17854344 - SMARCAD1 Q9H4L7 VAR_028044 p.Val972Ala LB/B rs17857297 - SMARCAL1 Q9NZC9 VAR_021363 p.Ala43Thr LB/B rs2066524 - SMARCAL1 Q9NZC9 VAR_021364 p.Arg114His LB/B rs11555797 - SMARCAL1 Q9NZC9 VAR_021366 p.Ile207Phe LB/B rs6734114 - SMARCAL1 Q9NZC9 VAR_021367 p.Ser315Arg LB/B rs2066522 - SMARCAL1 Q9NZC9 VAR_021368 p.Glu377Gln LB/B rs2066518 - SMARCAL1 Q9NZC9 VAR_021369 p.Asp424Val LB/B rs2066520 - SMARCAL1 Q9NZC9 VAR_021370 p.Ala468Pro LP/P - Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021371 p.Ile548Asn LP/P rs119473036 Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021372 p.Ser579Leu LP/P - Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021373 p.Arg586Trp LP/P rs119473038 Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021374 p.Arg644Trp LP/P rs1313658611 Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021375 p.Arg645Cys LP/P rs119473037 Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021376 p.Lys647Gln LP/P - Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021377 p.Lys647Thr LP/P - Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021378 p.Asp649Asn LB/B rs2066523 - SMARCAL1 Q9NZC9 VAR_021379 p.Thr705Ile LP/P rs200644381 Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021380 p.Thr742Met LB/B rs2271336 - SMARCAL1 Q9NZC9 VAR_021381 p.Arg764Gln LP/P rs267607071 Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021382 p.Arg820His LP/P rs200666300 Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_036026 p.Leu432Val US - A breast cancer sample SMARCAL1 Q9NZC9 VAR_038370 p.Ala22Gly LB/B rs17851400 - SMARCB1 Q12824 VAR_068179 p.Arg377His LP/P rs387906812 Coffin-Siris syndrome 3 (CSS3) [MIM:614608] SMARCB1 Q12824 VAR_076934 p.Arg366Cys LP/P rs886039520 Coffin-Siris syndrome 3 (CSS3) [MIM:614608] SMARCB1 Q12824 VAR_076935 p.Arg374Gln LP/P rs1057517825 Coffin-Siris syndrome 3 (CSS3) [MIM:614608] SMARCB1 Q12824 VAR_080263 p.Arg37His US rs398122368 Coffin-Siris syndrome 3 (CSS3) [MIM:614608] SMARCC1 Q92922 VAR_020883 p.Pro1075His LB/B rs3772406 - SMARCC1 Q92922 VAR_083429 p.His526Pro LP/P rs1576408057 Hydrocephalus, congenital, 5 (HYC5) [MIM:620241] SMARCC1 Q92922 VAR_088112 p.Arg652Cys LP/P rs570056024 Hydrocephalus, congenital, 5 (HYC5) [MIM:620241] SMARCC2 Q8TAQ2 VAR_082077 p.Asn134Asp LP/P - Coffin-Siris syndrome 8 (CSS8) [MIM:618362] SMARCC2 Q8TAQ2 VAR_082079 p.Leu609Pro LP/P - Coffin-Siris syndrome 8 (CSS8) [MIM:618362] SMARCC2 Q8TAQ2 VAR_082080 p.Leu610Pro LP/P rs1565903367 Coffin-Siris syndrome 8 (CSS8) [MIM:618362] SMARCC2 Q8TAQ2 VAR_082081 p.Leu613Pro LP/P - Coffin-Siris syndrome 8 (CSS8) [MIM:618362] SMARCC2 Q8TAQ2 VAR_082082 p.Cys635Arg US - Coffin-Siris syndrome 8 (CSS8) [MIM:618362] SMARCC2 Q8TAQ2 VAR_082083 p.Met896Val US rs1565896447 Coffin-Siris syndrome 8 (CSS8) [MIM:618362] SMARCC2 Q8TAQ2 VAR_082084 p.Glu900Gly US - Coffin-Siris syndrome 8 (CSS8) [MIM:618362] SMARCD1 Q96GM5 VAR_083801 p.Asp330Glu US rs1592289150 Coffin-Siris syndrome 11 (CSS11) [MIM:618779] SMARCD1 Q96GM5 VAR_083802 p.Arg446Gly LP/P rs1592294569 Coffin-Siris syndrome 11 (CSS11) [MIM:618779] SMARCD1 Q96GM5 VAR_083804 p.Phe495Leu LP/P rs1592295914 Coffin-Siris syndrome 11 (CSS11) [MIM:618779] SMARCD3 Q6STE5 VAR_020884 p.Pro170Ser LB/B rs1050101 - SMARCE1 Q969G3 VAR_068215 p.Tyr73Cys LP/P rs387906857 Coffin-Siris syndrome 5 (CSS5) [MIM:616938] SMARCE1 Q969G3 VAR_076932 p.Tyr73Ser LP/P rs387906857 Coffin-Siris syndrome 5 (CSS5) [MIM:616938] SMC1A Q14683 VAR_026529 p.Glu493Ala LP/P rs122454122 Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_052438 p.Thr28Pro LB/B rs34530151 - SMC1A Q14683 VAR_062786 p.Phe133Val LP/P rs2075725792 Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062787 p.Glu141Lys LP/P rs587784420 Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062788 p.Arg196His LP/P rs1556890815 Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062791 p.Arg398Gln LP/P rs587784403 Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062792 p.Arg496Cys LP/P rs2075701790 Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062793 p.Arg496His LP/P rs122454123 Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062795 p.Arg693Gly LP/P - Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062796 p.Arg711Trp LP/P rs587784409 Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062797 p.Cys781Phe LP/P - Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062798 p.Arg790Gln LP/P rs797045993 Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062799 p.Arg816Gly LP/P - Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062800 p.Arg1049Gln LP/P rs587784416 Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062801 p.Tyr1085Cys LP/P rs587784418 Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062802 p.Phe1122Leu LP/P - Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062803 p.Arg1123Trp LP/P - Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_064542 p.Arg711Gln LP/P rs782176647 Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_064543 p.Ile784Thr LP/P rs387906702 Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_078274 p.Arg398Gly LP/P - Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_078275 p.Val651Met US - Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_078276 p.Arg693Gln LP/P rs587784408 Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_078277 p.Asn1166Thr US rs1556885810 Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_078278 p.Leu1189Phe US - Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_083975 p.Arg895Gly LP/P rs2075651835 Developmental and epileptic encephalopathy 85 with or without midline brain defects (DEE85) [MIM:301044] SMC1B Q8NDV3 VAR_045913 p.Val473Phe LB/B rs136603 - SMC1B Q8NDV3 VAR_045914 p.Leu1050Met LB/B rs5764698 - SMC1B Q8NDV3 VAR_057324 p.Arg758Gln LB/B rs9614653 - SMC1B Q8NDV3 VAR_057325 p.Ser1008Ala LB/B rs16993928 - SMC2 O95347 VAR_047489 p.Glu1009Lys LB/B rs4562395 - SMC4 Q9NTJ3 VAR_052439 p.Ser181Arg LB/B rs35214835 - SMC4 Q9NTJ3 VAR_052440 p.Asn356Ser LB/B rs33999879 - SMC4 Q9NTJ3 VAR_059843 p.Glu415Asp LB/B rs2164675 - SMC5 Q8IY18 VAR_029824 p.Val306Ile LB/B rs1180116 - SMC5 Q8IY18 VAR_029825 p.Cys308Arg LB/B rs1180117 - SMC5 Q8IY18 VAR_061869 p.His682Arg LB/B rs11142365 - SMC5 Q8IY18 VAR_087973 p.His990Asp LP/P - Atelis syndrome 2 (ATELS2) [MIM:620185] SMC6 Q96SB8 VAR_029826 p.Ala691Thr LB/B rs1065381 - SMC6 Q96SB8 VAR_029827 p.Ile1046Met LB/B rs10221907 - SMC6 Q96SB8 VAR_035875 p.Ala292Val US - A breast cancer sample SMC6 Q96SB8 VAR_052441 p.Arg464Gly LB/B rs35195207 - SMC6 Q96SB8 VAR_052442 p.Lys928Gln LB/B rs35257753 - SMCHD1 A6NHR9 VAR_042959 p.Val708Ile LB/B rs2276092 - SMCHD1 A6NHR9 VAR_042960 p.Lys879Asn LB/B rs633422 - SMCHD1 A6NHR9 VAR_051365 p.Ile960Val LB/B rs9961682 - SMCHD1 A6NHR9 VAR_069067 p.Tyr353Cys LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_069068 p.Arg479Pro LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_069069 p.Cys492Arg LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_069070 p.Pro690Ser LP/P rs397514623 Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_069071 p.Ser868Asn LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_069072 p.Phe1554Ser LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_078869 p.Leu107Pro LP/P rs1135402737 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078870 p.Met129Lys LP/P rs1135402738 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078871 p.Ala134Ser LP/P - Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078872 p.Ser135Cys LP/P rs1057519645 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078873 p.Ser135Ile LP/P rs1057519646 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078874 p.Ser135Asn LP/P rs1057519646 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078875 p.Glu136Asp LP/P rs1057519643 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078876 p.Glu136Gly LP/P - Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078877 p.Gly137Glu LP/P rs1057519644 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078877 p.Gly137Glu LP/P rs1057519644 Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_078879 p.Asn139His LP/P rs1135402739 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078880 p.Leu141Phe LP/P rs1057519641 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078881 p.Phe171Val LP/P rs1135402740 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078882 p.Leu194Phe LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_078884 p.Ala242Gly LP/P rs1135402741 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078885 p.His263Asp LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_078886 p.Trp342Ser LP/P - Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078888 p.Gln345Arg LP/P rs1057519639 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078889 p.His348Arg LP/P rs1057519640 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078890 p.Gln400Leu LP/P rs1057519642 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078891 p.Asp420Val LP/P rs1135402742 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078892 p.Gly425Arg LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_078894 p.Glu473Gln LP/P rs1135402743 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078895 p.Lys518Glu LP/P - Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078896 p.Thr523Lys LP/P rs1135402744 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078897 p.Asn524Ser LP/P rs1135402745 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078898 p.Thr527Met LP/P rs397518422 Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_078899 p.Arg552Gln LP/P rs886042392 Bosma arhinia microphthalmia syndrome (BAMS) [MIM:603457] SMCHD1 A6NHR9 VAR_078900 p.Gly716Ser LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_078902 p.Leu748Pro LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_078904 p.Asp849Asn LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_078906 p.Met1468Ile LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_080698 p.Ala110Thr LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_080700 p.Tyr283Cys LP/P rs886041921 Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_080701 p.Gly478Glu LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_080702 p.Val615Asp LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_080703 p.Arg1449Lys LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_080704 p.Gln1463Pro LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCHD1 A6NHR9 VAR_080705 p.Pro1485Leu LP/P - Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] SMCO1 Q147U7 VAR_050721 p.His20Tyr LB/B rs9869292 - SMCO1 Q147U7 VAR_050722 p.Arg64Trp LB/B rs11926701 - SMCO3 A2RU48 VAR_043558 p.Cys49Arg LB/B rs11609202 - SMCO3 A2RU48 VAR_043559 p.Lys75Arg LB/B rs2241221 - SMCR8 Q8TEV9 VAR_032309 p.Pro524Leu LB/B rs8080966 - SMCR8 Q8TEV9 VAR_032310 p.Arg556His LB/B rs1563632 - SMCR8 Q8TEV9 VAR_032311 p.Asn636Ser LB/B rs12449313 - SMDT1 Q9H4I9 VAR_034628 p.Arg46Gly LB/B rs17852210 - SMG1 Q96Q15 VAR_041623 p.Ala35Thr LB/B rs12051350 - SMG1 Q96Q15 VAR_041624 p.Arg126Cys LB/B rs752796432 - SMG1 Q96Q15 VAR_041625 p.Ser144Cys LB/B rs766737607 - SMG1 Q96Q15 VAR_041626 p.Asn151Tyr LB/B rs750788715 - SMG1 Q96Q15 VAR_041627 p.Asp160Asn LB/B - - SMG1 Q96Q15 VAR_041628 p.Ala167Val LB/B rs1382468496 - SMG1 Q96Q15 VAR_041629 p.Asp320Gly LB/B - - SMG1 Q96Q15 VAR_041630 p.Gly465Ser LB/B rs200419100 - SMG1 Q96Q15 VAR_041631 p.His546Arg LB/B rs376234691 - SMG1 Q96Q15 VAR_041632 p.Ala588Ser LB/B rs750840136 - SMG1 Q96Q15 VAR_041633 p.Ile612Lys LB/B rs17842615 - SMG1 Q96Q15 VAR_041634 p.Ser753Cys LB/B rs569679854 - SMG1 Q96Q15 VAR_041635 p.Ser809Cys LB/B rs919788709 - SMG1 Q96Q15 VAR_041636 p.Arg812Cys LB/B rs1233400465 - SMG1 Q96Q15 VAR_041637 p.Val829Ile LB/B - - SMG1 Q96Q15 VAR_041638 p.Asn832Asp LB/B rs80176913 - SMG1 Q96Q15 VAR_041639 p.Ala952Gly LB/B rs555078480 - SMG1 Q96Q15 VAR_041640 p.Asn969Ser LB/B rs1412788971 - SMG1 Q96Q15 VAR_041641 p.Phe1016Leu LB/B rs1394431566 - SMG1 Q96Q15 VAR_041642 p.Arg1029Gln LB/B - - SMG1 Q96Q15 VAR_041643 p.Thr1072Ser LB/B rs45516593 - SMG1 Q96Q15 VAR_041644 p.Asn1103His LB/B rs563883658 - SMG1 Q96Q15 VAR_041645 p.Pro1275Arg LB/B - - SMG1 Q96Q15 VAR_041646 p.Gln1292Pro LB/B rs375411122 - SMG1 Q96Q15 VAR_041647 p.Ile1332Val LB/B rs949474935 - SMG1 Q96Q15 VAR_041648 p.Ser1358Pro LB/B - - SMG1 Q96Q15 VAR_041649 p.Arg1418Thr LB/B rs17731779 - SMG1 Q96Q15 VAR_041650 p.Ser2171Cys US - A breast pleomorphic lobular carcinoma sample SMG1 Q96Q15 VAR_041651 p.Gly2258Ser LB/B rs35572280 - SMG1 Q96Q15 VAR_041652 p.Met2345Lys LB/B rs56276814 - SMG1 Q96Q15 VAR_041653 p.Gln2730Glu LB/B rs34960798 - SMG1 Q96Q15 VAR_041654 p.Gly2889Ser LB/B rs35952340 - SMG1 Q96Q15 VAR_041655 p.Pro2899Ala LB/B rs55782217 - SMG1 Q96Q15 VAR_041656 p.Ile3239Thr US - A breast infiltrating ductal carcinoma sample SMG1 Q96Q15 VAR_041657 p.Lys3583Gln US - A breast infiltrating ductal carcinoma sample SMG5 Q9UPR3 VAR_030828 p.Asn1004Asp LB/B rs17853821 - SMG6 Q86US8 VAR_018499 p.Arg291Pro LB/B rs1885986 - SMG6 Q86US8 VAR_018500 p.Lys294Gln LB/B rs216195 - SMG6 Q86US8 VAR_018501 p.Asn341Thr LB/B rs1885987 - SMG6 Q86US8 VAR_018502 p.Ala972Thr LB/B rs903160 - SMG6 Q86US8 VAR_018503 p.His1233Arg LB/B rs2273980 - SMG6 Q86US8 VAR_050978 p.Asn575Ser LB/B rs34047637 - SMG6 Q86US8 VAR_050979 p.Arg984Cys LB/B rs35173108 - SMG6 Q86US8 VAR_061648 p.Glu1189Lys LB/B rs58801957 - SMG7 Q92540 VAR_051363 p.Ser627Phe LB/B rs34221194 - SMG7 Q92540 VAR_051364 p.Val900Ile LB/B rs2298083 - SMG8 Q8ND04 VAR_035137 p.Pro280Leu LB/B rs8068240 - SMG8 Q8ND04 VAR_085550 p.His208Arg LP/P - Alzahrani-Kuwahara syndrome (ALKUS) [MIM:619268] SMG9 Q9H0W8 VAR_087655 p.Val184Ala US rs749498958 Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies (NEDITPO) [MIM:619995] SMIM1 B2RUZ4 VAR_069360 p.Met51Lys US rs1182690110 - SMIM1 B2RUZ4 VAR_069361 p.Met51Arg US - - SMIM11 P58511 VAR_054066 p.Lys51Arg LB/B rs34016792 - SMIM15 Q7Z3B0 VAR_039986 p.Leu23Phe LB/B rs4546328 - SMIM20 Q8N5G0 VAR_039968 p.Ala8Thr LB/B rs4521339 - SMIM23 A6NLE4 VAR_057736 p.Thr36Met LB/B rs10037031 - SMN1 Q16637 VAR_005615 p.Ala2Gly LP/P rs75030631 Spinal muscular atrophy 2 (SMA2) [MIM:253550] SMN1 Q16637 VAR_005615 p.Ala2Gly LP/P rs75030631 Spinal muscular atrophy 3 (SMA3) [MIM:253400] SMN1 Q16637 VAR_005616 p.Ser262Ile LP/P rs75660264 Spinal muscular atrophy 3 (SMA3) [MIM:253400] SMN1 Q16637 VAR_005617 p.Tyr272Cys LP/P rs104893922 Spinal muscular atrophy 1 (SMA1) [MIM:253300] SMN1 Q16637 VAR_005618 p.Thr274Ile LP/P rs76871093 Spinal muscular atrophy 2 (SMA2) [MIM:253550] SMN1 Q16637 VAR_005618 p.Thr274Ile LP/P rs76871093 Spinal muscular atrophy 3 (SMA3) [MIM:253400] SMN1 Q16637 VAR_005619 p.Gly275Ser LP/P rs77301881 Spinal muscular atrophy 3 (SMA3) [MIM:253400] SMN1 Q16637 VAR_005620 p.Gly279Val LP/P rs76163360 Spinal muscular atrophy 1 (SMA1) [MIM:253300] SMN1 Q16637 VAR_007990 p.Gly279Cys LP/P rs77969175 Spinal muscular atrophy 2 (SMA2) [MIM:253550] SMN1 Q16637 VAR_007990 p.Gly279Cys LP/P rs77969175 Spinal muscular atrophy 3 (SMA3) [MIM:253400] SMN1 Q16637 VAR_010051 p.Pro245Leu LP/P rs75586164 Spinal muscular atrophy 3 (SMA3) [MIM:253400] SMN1 Q16637 VAR_034803 p.Asp30Asn LP/P rs104893930 Spinal muscular atrophy 2 (SMA2) [MIM:253550] SMN1 Q16637 VAR_034804 p.Asp44Val LP/P rs104893931 Spinal muscular atrophy 3 (SMA3) [MIM:253400] SMN1 Q16637 VAR_034805 p.Gly95Arg LP/P rs104893927 Spinal muscular atrophy 3 (SMA3) [MIM:253400] SMN1 Q16637 VAR_034806 p.Ala111Gly LP/P rs104893935 Spinal muscular atrophy 2 (SMA2) [MIM:253550] SMN1 Q16637 VAR_034807 p.Ile116Phe LP/P rs104893933 Spinal muscular atrophy 1 (SMA1) [MIM:253300] SMN1 Q16637 VAR_034808 p.Gln136Glu LP/P rs104893934 Spinal muscular atrophy 1 (SMA1) [MIM:253300] SMN1 Q16637 VAR_034809 p.Ser262Gly LP/P rs104893932 Spinal muscular atrophy 3 (SMA3) [MIM:253400] SMO Q99835 VAR_007848 p.Trp535Leu US rs121918347 Basal cell carcinoma SMO Q99835 VAR_007849 p.Arg562Gln US rs121918348 Basal cell carcinoma samples SMO Q99835 VAR_037891 p.Asp473His LB/B rs17710891 - SMO Q99835 VAR_077087 p.Leu412Phe LP/P rs879255280 Curry-Jones syndrome (CRJS) [MIM:601707] SMOC1 Q9H4F8 VAR_034498 p.Val82Met LB/B rs10150925 - SMOC1 Q9H4F8 VAR_069326 p.Arg278Cys LP/P rs776638586 Ophthalmoacromelic syndrome (OAS) [MIM:206920] SMOC1 Q9H4F8 VAR_069327 p.Thr283Asn LP/P - Ophthalmoacromelic syndrome (OAS) [MIM:206920] SMOC1 Q9H4F8 VAR_069328 p.Arg286His LP/P rs1365818420 Ophthalmoacromelic syndrome (OAS) [MIM:206920] SMOX Q9NWM0 VAR_019531 p.His522Tyr LB/B - - SMOX Q9NWM0 VAR_036546 p.Gln340Lys US - A breast cancer sample SMOX Q9NWM0 VAR_059114 p.Arg301Pro LB/B rs6084654 - SMPD1 P17405 VAR_005058 p.Gly244Arg LP/P rs120074122 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_005059 p.Glu248Gln LP/P rs200763423 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_005060 p.Leu304Pro LP/P rs120074124 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_005061 p.Met384Ile LP/P rs120074121 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_005061 p.Met384Ile LP/P rs120074121 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_005062 p.Asn385Ser LP/P rs120074123 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_005063 p.Asn391Thr LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_005064 p.Trp393Gly LP/P rs120074125 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_005065 p.Ser438Arg LP/P rs267607073 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_005066 p.Arg498Leu LP/P rs120074117 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_005067 p.Gly579Ser LP/P rs120074119 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_011387 p.Cys159Arg LP/P rs727504166 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_011388 p.Tyr448Cys LP/P rs747143343 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_015287 p.Ser250Arg LP/P rs750779804 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_015287 p.Ser250Arg LP/P rs750779804 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_015288 p.His321Tyr LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_015289 p.Pro373Ser LP/P rs1342372980 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_015290 p.His423Tyr LP/P rs120074126 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_015291 p.Phe465Ser LP/P rs1319643225 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_015292 p.Pro477Leu LP/P rs753508874 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_015292 p.Pro477Leu LP/P rs753508874 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_015293 p.Tyr539His LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_038191 p.Val36Ala LB/B rs1050228 - SMPD1 P17405 VAR_054642 p.Val318Glu LB/B rs12575136 - SMPD1 P17405 VAR_054643 p.Thr324Ile LB/B rs1050233 - SMPD1 P17405 VAR_054644 p.Gly508Arg LB/B rs1050239 - SMPD1 P17405 VAR_060870 p.Asp51Val US rs748589919 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060871 p.Cys94Trp LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060872 p.Leu105Pro LP/P rs751269562 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060872 p.Leu105Pro LP/P rs751269562 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060873 p.Val132Ala LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060874 p.Leu139Pro LP/P rs797044797 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060875 p.Gly168Arg LP/P rs1847910654 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060876 p.Ile178Asn LP/P rs749780769 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060877 p.Pro186Leu LP/P rs1057517195 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060878 p.Ala198Pro LP/P rs797044798 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060879 p.Arg202Cys LP/P rs749595299 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060880 p.Leu227Met LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060881 p.Leu227Pro LP/P rs764317969 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060882 p.Arg230Cys LP/P rs989639224 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060882 p.Arg230Cys LP/P rs989639224 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060883 p.Arg230His LP/P rs141387770 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060884 p.Gly234Asp LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060885 p.Ala243Val LP/P rs1291958011 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060886 p.Trp246Cys LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060887 p.Gly247Ser LP/P rs587779408 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060887 p.Gly247Ser LP/P rs587779408 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060888 p.Glu248Lys LP/P rs200763423 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060889 p.Asp253Glu LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060890 p.Asp280Ala LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060891 p.Ala283Thr LP/P rs752148586 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060892 p.Arg291His US rs1803161 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060893 p.Gln294Lys LP/P rs120074128 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060894 p.Arg296Gln LB/B rs35824453 - SMPD1 P17405 VAR_060895 p.Tyr315His LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060896 p.Pro325Ala LP/P rs761308217 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060897 p.Pro332Arg LP/P rs202081954 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060898 p.Leu343Pro LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060899 p.Ala359Asp LP/P rs797044800 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060900 p.Tyr369Cys LP/P rs372287825 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060901 p.Arg378His LP/P rs559088058 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060902 p.Arg378Leu LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060903 p.Ser381Pro LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060905 p.Ala415Val LP/P rs1451199796 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060906 p.His423Arg LP/P rs767492080 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060907 p.Cys433Arg LP/P rs779528546 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060908 p.Leu434Pro LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060909 p.Trp437Cys LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060910 p.Leu452Pro LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060911 p.Ala454Val LP/P rs1402734026 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060912 p.Gly458Asp LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060913 p.Tyr469Ser LP/P rs267607074 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060914 p.Arg476Trp LP/P rs182812968 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060915 p.Phe482Leu LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060916 p.Ala484Glu LP/P rs267607075 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060917 p.Ala487Val LB/B rs141641266 - SMPD1 P17405 VAR_060918 p.Thr488Ala LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060919 p.Tyr490Asn LP/P rs398123477 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060920 p.Gly496Ser LP/P rs1554935371 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060921 p.Arg498Cys LP/P rs769904764 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060922 p.Arg498His LP/P rs120074117 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060923 p.Ser507Gly LB/B - - SMPD1 P17405 VAR_060924 p.His516Gln LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060925 p.Glu517Val LP/P rs142787001 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060926 p.Tyr519Cys LP/P rs371837210 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060927 p.Trp535Arg LP/P rs1554935555 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060927 p.Trp535Arg LP/P rs1554935555 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060928 p.Leu551Pro LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060929 p.Asp565Tyr LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060930 p.Lys578Asn LP/P rs747342458 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060932 p.Arg602His LP/P rs370129081 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060932 p.Arg602His LP/P rs370129081 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060933 p.Arg602Pro LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_068435 p.Trp211Arg LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_068436 p.Asp253His LP/P rs398123479 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_068437 p.Val314Met LP/P rs1228068212 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_068438 p.His427Arg LP/P rs794727629 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_068439 p.Ala453Asp LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_068440 p.Asn522Ser LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_068441 p.Gln525His LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_075322 p.Cys91His LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_075323 p.Leu163Pro LP/P rs780134410 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_075324 p.Cys228Arg LP/P rs1564923612 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_075325 p.Gly247Asp LP/P rs1590739350 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_075326 p.Thr258Ile LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_075327 p.Cys387Arg LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_075328 p.Arg476Gln US rs763566905 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_075330 p.Gly492Ser LP/P rs144873307 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_075331 p.Phe572Leu LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_075332 p.His577Asp US - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_075333 p.Gln598Arg LP/P rs1554935731 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_075334 p.Leu599Phe US rs138531908 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_075335 p.Arg610Cys US rs375915127 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_077311 p.Leu216Arg LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_077312 p.Pro255Ser LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_077313 p.Pro282Phe LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_077314 p.Gly319Arg LP/P rs757934797 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_077315 p.Asn320Asp US rs779927660 Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_077316 p.Thr324Pro US - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_077317 p.Leu343Arg LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_077318 p.Leu363Arg US - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_077319 p.Asn391His LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_077320 p.Trp393Arg LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_077321 p.Gly426Ser LP/P rs1554935136 Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_077322 p.Asn494Ile LP/P - Niemann-Pick disease A (NPDA) [MIM:257200] SMPD1 P17405 VAR_077323 p.Ser510Phe LB/B rs200652683 - SMPD1 P17405 VAR_077324 p.Ile520Leu LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_077325 p.Asn549Lys LP/P - Niemann-Pick disease B (NPDB) [MIM:607616] SMPD1 P17405 VAR_077326 p.Ser605Gly LB/B - - SMPD2 O60906 VAR_024181 p.Arg265Ser LB/B rs1476387 - SMPD2 O60906 VAR_050305 p.Pro3Leu LB/B rs1048197 - SMPD2 O60906 VAR_050306 p.Val223Ile LB/B rs9386806 - SMPD4 Q9NXE4 VAR_083331 p.Leu231Pro LP/P rs1688560182 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA) [MIM:618622] SMPD4 Q9NXE4 VAR_083332 p.Pro446Leu US rs747433356 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA) [MIM:618622] SMPD4 Q9NXE4 VAR_083333 p.Ala661Val US rs1461194496 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA) [MIM:618622] SMPDL3A Q92484 VAR_048338 p.His16Tyr LB/B rs12523814 - SMPDL3A Q92484 VAR_048339 p.Pro161Ser LB/B rs28385609 - SMPDL3B Q92485 VAR_048340 p.Arg381His LB/B rs34560878 - SMPX Q9UHP9 VAR_087073 p.Pro7Thr US - Myopathy, distal, 7, adult-onset, X-linked (MPD7) [MIM:301075] SMPX Q9UHP9 VAR_087074 p.Ala13Val US - Myopathy, distal, 7, adult-onset, X-linked (MPD7) [MIM:301075] SMPX Q9UHP9 VAR_087075 p.Pro27Ala US - Myopathy, distal, 7, adult-onset, X-linked (MPD7) [MIM:301075] SMPX Q9UHP9 VAR_087076 p.Ser78Asn US - Myopathy, distal, 7, adult-onset, X-linked (MPD7) [MIM:301075] SMR3A Q99954 VAR_056989 p.Gly28Arg LB/B rs10031844 - SMR3A Q99954 VAR_060392 p.Cys42Arg LB/B rs10024123 - SMR3A Q99954 VAR_060393 p.Pro132Leu LB/B rs6853742 - SMS P52788 VAR_071048 p.Asn60Ser LB/B rs1394834572 - SMS P52788 VAR_072748 p.Phe58Leu LP/P rs397515549 Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type (MRXSSR) [MIM:309583] SMS P52788 VAR_076449 p.Gly56Ser LP/P rs121434610 Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type (MRXSSR) [MIM:309583] SMS P52788 VAR_076450 p.Gly67Glu LP/P rs397515550 Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type (MRXSSR) [MIM:309583] SMS P52788 VAR_076451 p.Val132Gly LP/P rs267607076 Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type (MRXSSR) [MIM:309583] SMS P52788 VAR_076452 p.Tyr328Cys LP/P rs397515553 Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type (MRXSSR) [MIM:309583] SMTN P53814 VAR_035657 p.Arg637Gln US rs777851029 A colorectal cancer sample SMTN P53814 VAR_035658 p.Ala763Val US - A colorectal cancer sample SMTN P53814 VAR_038785 p.Gly455Asp LB/B rs1064178 - SMTN P53814 VAR_038786 p.Ala547Pro LB/B rs3205187 - SMTN P53814 VAR_038787 p.Ala559Val LB/B rs5997872 - SMTN P53814 VAR_038788 p.Ala580Thr LB/B rs12158015 - SMTN P53814 VAR_062223 p.Arg642Cys LB/B rs34292278 - SMTNL2 Q2TAL5 VAR_038498 p.Ala162Thr LB/B rs12449695 - SMTNL2 Q2TAL5 VAR_060164 p.Trp251Arg LB/B rs9916524 - SMUG1 Q53HV7 VAR_023243 p.Gly15Val LB/B rs2233920 - SMUG1 Q53HV7 VAR_023244 p.Arg105Trp LB/B rs3136389 - SMURF1 Q9HCE7 VAR_052959 p.Ser466Tyr LB/B rs13246077 - SMYD1 Q8NB12 VAR_052990 p.Gln164Pro LB/B rs1542087 - SMYD2 Q9NRG4 VAR_023442 p.Gly165Glu LB/B rs1134647 - SMYD2 Q9NRG4 VAR_052991 p.Ile430Met LB/B rs11120301 - SMYD4 Q8IYR2 VAR_025626 p.Arg131Ile LB/B rs7224496 - SMYD4 Q8IYR2 VAR_025627 p.Tyr727Cys LB/B rs9902398 - SMYD4 Q8IYR2 VAR_025628 p.Arg562Trp LB/B rs11549830 - SMYD4 Q8IYR2 VAR_057495 p.Asn101Asp LB/B rs9907701 - SMYD4 Q8IYR2 VAR_057496 p.Gly236Ser LB/B rs9913923 - SMYD4 Q8IYR2 VAR_057497 p.Ile374Met LB/B rs9890631 - SMYD4 Q8IYR2 VAR_057498 p.Pro382Arg LB/B rs3809875 - SMYD4 Q8IYR2 VAR_064755 p.Ala601Pro US - - SMYD4 Q8IYR2 VAR_084711 p.Gly345Asp LB/B rs759042432 - SMYD4 Q8IYR2 VAR_084712 p.Arg579Gln LB/B rs766983285 - SNAI1 O95863 VAR_019969 p.Val118Ala LB/B rs4647958 - SNAI1 O95863 VAR_069162 p.Ala66Val LB/B rs34261470 - SNAI2 O43623 VAR_009873 p.Asp119Glu LB/B rs748917911 - SNAI2 O43623 VAR_069163 p.Pro31Thr LB/B rs11544360 - SNAI2 O43623 VAR_069164 p.Thr234Ile LB/B rs13280993 - SNAP25 P60880 VAR_073698 p.Ile67Asn LP/P rs1555794286 Myasthenic syndrome, congenital, 18 (CMS18) [MIM:616330] SNAP47 Q5SQN1 VAR_035367 p.Arg48Gly LB/B rs2236359 - SNAP47 Q5SQN1 VAR_035368 p.Gly119Arg LB/B rs12239037 - SNAP47 Q5SQN1 VAR_035369 p.Val154Met LB/B rs2236358 - SNAP47 Q5SQN1 VAR_035370 p.Arg381Cys LB/B rs17851681 - SNAPC2 Q13487 VAR_011806 p.Leu118Val LB/B rs475002 - SNAPC3 Q92966 VAR_051366 p.Glu398Ala LB/B rs3087653 - SNAPC4 Q5SXM2 VAR_050193 p.His799Gln LB/B rs3812571 - SNAPC4 Q5SXM2 VAR_050194 p.Pro1448Ser LB/B rs3812561 - SNAPC4 Q5SXM2 VAR_059455 p.Asp44Asn LB/B rs7031489 - SNAPIN O95295 VAR_017423 p.Ser112Cys LB/B rs1802461 - SNCA P37840 VAR_007454 p.Ala53Thr LP/P rs104893877 Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601] SNCA P37840 VAR_007957 p.Ala30Pro LP/P rs104893878 Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601] SNCA P37840 VAR_022703 p.Glu46Lys LP/P rs104893875 Dementia, Lewy body (DLB) [MIM:127750] SNCA P37840 VAR_022703 p.Glu46Lys LP/P rs104893875 Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601] SNCA P37840 VAR_070171 p.His50Gln LP/P rs201106962 Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601] SNCAIP Q9Y6H5 VAR_025667 p.Arg621Cys US rs28937592 - SNCAIP Q9Y6H5 VAR_048312 p.Glu235Gly LB/B rs6867105 - SNCAIP Q9Y6H5 VAR_065358 p.Val44Ala LB/B rs56285021 - SNCAIP Q9Y6H5 VAR_065359 p.Glu706Gln LB/B - - SNCG O76070 VAR_007455 p.Glu110Val LB/B rs9864 - SND1-IT1 Q9HBX3 VAR_050818 p.Thr24Ala LB/B rs17151639 - SNED1 Q8TER0 VAR_034847 p.Leu1228Pro LB/B rs17440466 - SNED1 Q8TER0 VAR_034848 p.Arg1289Gln LB/B rs6721345 - SNED1 Q8TER0 VAR_034849 p.His1299Arg LB/B rs6708120 - SNED1 Q8TER0 VAR_034850 p.Ala1362Ser LB/B rs2108485 - SNIP1 Q8TAD8 VAR_067542 p.Glu366Gly LP/P rs387906986 Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures (NEDHCS) [MIM:614501] SNN O75324 VAR_018842 p.Val17Ile LB/B rs8191328 - SNN O75324 VAR_018843 p.Gly88Ser LB/B rs8191329 - SNRK Q9NRH2 VAR_041096 p.Leu260Ser LB/B rs35624204 - SNRK Q9NRH2 VAR_041097 p.Pro391Ser LB/B rs56104180 - SNRK Q9NRH2 VAR_041098 p.Gly611Ser US rs368877591 An ovarian mucinous carcinoma sample SNRK Q9NRH2 VAR_041099 p.Pro748Leu US - An ovarian serous carcinoma sample SNRK Q9NRH2 VAR_041100 p.Ile765Met US - A breast pleomorphic lobular carcinoma sample SNRNP200 O75643 VAR_035943 p.Phe1736Leu US - A colorectal cancer sample SNRNP200 O75643 VAR_063539 p.Ser1087Leu LP/P rs267607077 Retinitis pigmentosa 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_063540 p.Arg1090Leu LP/P rs397514574 Retinitis pigmentosa 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_065587 p.Arg681Cys LP/P rs959069360 Retinitis pigmentosa 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_065588 p.Arg681His LP/P rs527236113 Retinitis pigmentosa 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_065589 p.Val683Leu US rs527236114 Retinitis pigmentosa 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_065590 p.Tyr689Cys LP/P - Retinitis pigmentosa 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_071689 p.Cys502Arg LP/P - Retinitis pigmentosa 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_071690 p.Ala542Val LP/P rs2063918440 Retinitis pigmentosa 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_071691 p.Pro682Ser LP/P - Retinitis pigmentosa 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_071692 p.Ile698Val LP/P rs1457428682 Retinitis pigmentosa 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_071693 p.Gln885Glu LP/P rs397514575 Retinitis pigmentosa 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_071694 p.Arg1779His LP/P rs749546665 Retinitis pigmentosa 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_071695 p.Ala1995Thr LB/B rs201691299 - SNRNP27 Q8WVK2 VAR_025363 p.Thr81Ile LB/B - - SNRNP27 Q8WVK2 VAR_025364 p.Ser114Phe LB/B - - SNRNP48 Q6IEG0 VAR_033678 p.Pro45Leu LB/B rs2757594 - SNRNP48 Q6IEG0 VAR_050812 p.Arg281Gln LB/B rs3823184 - SNRPB P14678 VAR_052274 p.Ser79Pro LB/B rs11545672 - SNRPB P14678 VAR_073380 p.Asn55Ser LP/P - Cerebrocostomandibular syndrome (CCMS) [MIM:117650] SNRPB P14678 VAR_073381 p.Asn55Thr LP/P - Cerebrocostomandibular syndrome (CCMS) [MIM:117650] SNRPB P14678 VAR_073382 p.Ser56Arg LP/P - Cerebrocostomandibular syndrome (CCMS) [MIM:117650] SNRPB P14678 VAR_073383 p.Ser56Trp LP/P - Cerebrocostomandibular syndrome (CCMS) [MIM:117650] SNRPB2 P08579 VAR_035487 p.Lys19Gln US - A colorectal cancer sample SNRPE P62304 VAR_069619 p.Gly45Ser LP/P rs587776925 Hypotrichosis 11 (HYPT11) [MIM:615059] SNTA1 Q13424 VAR_014075 p.Leu364Phe LB/B rs1046815 - SNTA1 Q13424 VAR_062399 p.Ala257Gly LP/P rs56157422 Long QT syndrome 12 (LQT12) [MIM:612955] SNTA1 Q13424 VAR_062400 p.Ala390Val LP/P rs121434500 Long QT syndrome 12 (LQT12) [MIM:612955] SNTB2 Q13425 VAR_014076 p.Asp424Glu LB/B rs1058482 - SNTB2 Q13425 VAR_073697 p.Ser376Arg LB/B - - SNTG2 Q9NY99 VAR_034501 p.Ser168Tyr LB/B rs28505970 - SNTG2 Q9NY99 VAR_034502 p.Ser200Leu LB/B rs6751090 - SNTG2 Q9NY99 VAR_034503 p.Ile391Val LB/B rs13023962 - SNU13 P55769 VAR_034155 p.Thr19Asn LB/B rs1802521 - SNX1 Q13596 VAR_034507 p.Asp466Asn LB/B rs1802376 - SNX1 Q13596 VAR_052477 p.Ser115Tyr LB/B rs1049501 - SNX10 Q9Y5X0 VAR_046098 p.Ser187Ile LB/B rs1053042 - SNX10 Q9Y5X0 VAR_069299 p.Arg16Leu LP/P rs779298714 Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085] SNX10 Q9Y5X0 VAR_069300 p.Tyr32Ser LP/P rs771038257 Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085] SNX10 Q9Y5X0 VAR_069301 p.Arg51Pro LP/P - Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085] SNX10 Q9Y5X0 VAR_069302 p.Arg51Gln LP/P rs398123011 Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085] SNX13 Q9Y5W8 VAR_057333 p.Leu472Ser LB/B rs35113148 - SNX15 Q9NRS6 VAR_052478 p.Arg334Cys LB/B rs495820 - SNX16 P57768 VAR_052479 p.Pro98Leu LB/B rs16919654 - SNX18 Q96RF0 VAR_052480 p.Glu571Asp LB/B rs2548612 - SNX18 Q96RF0 VAR_052481 p.Lys593Thr LB/B rs13162502 - SNX19 Q92543 VAR_057334 p.Ser407Gly LB/B rs3190345 - SNX19 Q92543 VAR_060288 p.Val361Leu LB/B rs3751037 - SNX19 Q92543 VAR_060289 p.Asp396Glu LB/B rs1050081 - SNX19 Q92543 VAR_060290 p.Leu618Phe LB/B rs681982 - SNX19 Q92543 VAR_060291 p.Asn753Ser LB/B rs4414223 - SNX19 Q92543 VAR_060292 p.Leu878Arg LB/B rs2298566 - SNX20 Q7Z614 VAR_039927 p.Pro35Leu LB/B rs1131716 - SNX21 Q969T3 VAR_052482 p.Ala154Thr LB/B rs4638862 - SNX25 Q9H3E2 VAR_047057 p.Glu318Lys LB/B rs35700132 - SNX25 Q9H3E2 VAR_047058 p.Ile586Val LB/B rs3756275 - SNX25 Q9H3E2 VAR_047059 p.Thr725Ile LB/B rs34120554 - SNX27 Q96L92 VAR_059851 p.Glu459Lys LB/B rs11204871 - SNX30 Q5VWJ9 VAR_031771 p.Asp83His LB/B rs1485070286 - SNX30 Q5VWJ9 VAR_052483 p.Pro125Ala LB/B rs10117709 - SNX31 Q8N9S9 VAR_042900 p.Asp73His LB/B rs2187016 - SNX31 Q8N9S9 VAR_042901 p.Gln309Arg LB/B rs2248609 - SNX31 Q8N9S9 VAR_042902 p.Asp428Gly LB/B rs2022923 - SNX32 Q86XE0 VAR_039298 p.His155Asn LB/B rs17854065 - SNX32 Q86XE0 VAR_039299 p.Ala282Val LB/B rs17855647 - SNX32 Q86XE0 VAR_039300 p.Ser354Tyr LB/B rs17857243 - SNX7 Q9UNH6 VAR_057331 p.Phe186Leu LB/B rs35391040 - SNX7 Q9UNH6 VAR_057332 p.Ser278Asn LB/B rs12033678 - SNX8 Q9Y5X2 VAR_036259 p.Ala147Gly US - A colorectal cancer sample SOAT1 P35610 VAR_052031 p.Gln526Arg LB/B rs13306731 - SOAT2 O75908 VAR_020373 p.Glu14Gly LB/B rs9658625 - SOAT2 O75908 VAR_020374 p.Thr254Ile LB/B rs2272296 - SOBP A7XYQ1 VAR_062215 p.Ser683Gly LB/B rs9486659 - SOCS1 O15524 VAR_061808 p.Gln210His LB/B rs11549428 - SOCS1 O15524 VAR_085947 p.Arg22Trp LP/P - Autoinflammatory syndrome, familial, with or without immunodeficiency (AISIMD) [MIM:619375] SOCS1 O15524 VAR_085949 p.Pro123Arg LP/P - Autoinflammatory syndrome, familial, with or without immunodeficiency (AISIMD) [MIM:619375] SOCS1 O15524 VAR_085950 p.Tyr154His US - Autoinflammatory syndrome, familial, with or without immunodeficiency (AISIMD) [MIM:619375] SOCS2 O14508 VAR_052032 p.Ser52Asn LB/B rs3741676 - SOCS3 O14543 VAR_030033 p.His125Tyr LB/B rs1061489 - SOD1 P00441 VAR_007130 p.Ala5Thr LP/P rs121912444 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007131 p.Ala5Val LP/P rs121912442 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007132 p.Val8Glu LP/P rs1568807330 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007133 p.Val15Met LP/P rs1568807400 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007134 p.Gly17Ser LP/P rs121912453 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007135 p.Glu22Lys LP/P rs121912450 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007136 p.Gly38Arg LP/P rs121912431 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007137 p.Leu39Val LP/P rs121912432 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007138 p.Gly42Ser LP/P rs121912433 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007139 p.Gly42Asp LP/P rs121912434 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007140 p.His44Arg LP/P rs121912435 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007141 p.His47Arg LP/P rs121912443 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007142 p.His49Gln LP/P rs1568809175 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007143 p.Leu85Val LP/P rs121912452 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007144 p.Gly86Arg LP/P rs121912436 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007145 p.Asp91Ala LP/P rs80265967 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007146 p.Gly94Ala LP/P rs121912438 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007147 p.Gly94Cys LP/P rs121912437 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007148 p.Gly94Asp LP/P rs121912438 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007149 p.Gly94Arg LP/P rs121912437 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007150 p.Glu101Gly LP/P rs121912439 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007151 p.Asp102Gly LP/P rs1568810721 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007152 p.Asp102Asn LP/P rs1568810715 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007153 p.Leu107Val LP/P rs121912440 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007154 p.Ile113Thr LP/P rs74315452 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007155 p.Ile114Thr LP/P rs121912441 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007156 p.Arg116Gly LP/P rs1301635320 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007157 p.Asp126His LP/P rs1568811372 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007158 p.Ser135Asn LP/P rs121912451 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007159 p.Asn140Lys LP/P rs1804449 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007160 p.Leu145Phe LP/P rs1482760341 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007161 p.Val149Gly LP/P rs1476760624 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007162 p.Val149Ile LP/P rs567511139 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007163 p.Ile150Thr LP/P rs1424014997 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007164 p.Ile152Thr LP/P rs121912449 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_008717 p.Cys7Phe LP/P rs121912448 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_008718 p.Gly73Ser LP/P rs121912455 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_008719 p.Gly94Val LP/P rs121912438 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_008720 p.Ile105Phe LP/P rs121912445 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_008722 p.Asp125Val LP/P rs1568811366 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_008724 p.Leu145Ser LP/P rs121912446 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_008725 p.Ala146Thr LP/P rs121912447 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013518 p.Ala5Ser LP/P rs121912444 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013519 p.Leu9Gln LP/P rs1568807342 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013520 p.Leu9Val LP/P rs1568807333 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013521 p.Gly13Arg LP/P rs121912456 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013522 p.Val15Gly LP/P rs1202989817 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013523 p.Glu22Gly LP/P rs1568807435 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013524 p.Leu39Arg LP/P rs1555836520 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013525 p.Phe46Cys LP/P rs121912457 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013526 p.Glu50Lys LP/P rs1568809178 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013527 p.Asn66Ser LP/P rs1568810275 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013528 p.Leu68Arg LP/P rs1568810289 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013529 p.Asp77Tyr LP/P rs1601157750 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013530 p.Leu85Phe LP/P rs1315541036 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013531 p.Asn87Ser LP/P rs11556620 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013532 p.Ala90Val LP/P rs1280042397 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013533 p.Asp91Val LP/P rs80265967 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013534 p.Glu101Lys LP/P rs76731700 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013535 p.Ser106Leu LP/P rs1378590183 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013536 p.Gly109Val LP/P rs1359299834 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013537 p.Ile113Met LP/P rs1299542356 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013538 p.Gly115Ala LP/P rs1568810789 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013539 p.Leu127Ser LP/P rs121912454 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013540 p.Cys147Arg LP/P rs1568811515 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_016874 p.His81Arg LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045876 p.Phe21Cys LP/P rs1555836169 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045877 p.Gln23Leu LP/P rs1169198442 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045878 p.His49Arg LP/P rs1568809172 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045879 p.Thr55Arg LP/P rs986277034 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045880 p.Val88Ala LP/P rs1339283341 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045881 p.Ala90Thr LP/P rs1568810660 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045882 p.Val98Met LP/P rs1555836806 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045883 p.Val119Leu LP/P rs1235629842 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045884 p.Asp125Gly LP/P rs1568811366 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045885 p.Gly148Arg LP/P rs1568811520 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_065194 p.Ala96Gly LP/P rs1568810690 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_065560 p.Leu68Pro LP/P rs1568810289 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_077327 p.Cys112Tyr LP/P rs1601158483 Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] SOD2 P04179 VAR_007165 p.Ile82Thr LB/B rs1141718 - SOD2 P04179 VAR_016183 p.Val16Ala LB/B rs4880 - SOD2 P04179 VAR_019363 p.Ser10Ile LB/B rs5746096 - SOD2 P04179 VAR_019364 p.Glu66Val LB/B rs5746097 - SOD2 P04179 VAR_019365 p.Arg156Trp LB/B rs5746129 - SOD2 P04179 VAR_025898 p.Gly76Arg LB/B rs4987023 - SOD3 P08294 VAR_014705 p.Arg231Gly LB/B rs1799895 - SOD3 P08294 VAR_020776 p.Ala58Thr LB/B rs2536512 - SOD3 P08294 VAR_020777 p.Ala91Thr LB/B rs17879876 - SOHLH1 Q5JUK2 VAR_038281 p.Arg37Gln LB/B rs471525 - SOHLH1 Q5JUK2 VAR_038282 p.Pro269Ser LB/B rs3119932 - SOHLH1 Q5JUK2 VAR_064060 p.Cys31Arg US rs199935200 Spermatogenic failure 32 (SPGF32) [MIM:618115] SOHLH1 Q5JUK2 VAR_064061 p.Pro177Thr US rs201142743 Spermatogenic failure 32 (SPGF32) [MIM:618115] SOHLH2 Q9NX45 VAR_038283 p.Ser14Leu LB/B rs12873478 - SOHLH2 Q9NX45 VAR_038284 p.Ala339Thr LB/B rs2296968 - SON P18583 VAR_056990 p.Thr870Ala LB/B rs11908823 - SON P18583 VAR_056991 p.Arg1575Cys LB/B rs13047599 - SON P18583 VAR_065456 p.Pro473Ser LB/B rs35622138 - SON P18583 VAR_065457 p.Thr555Met LB/B rs13049658 - SON P18583 VAR_065458 p.Ser1202Leu LB/B rs13433428 - SON P18583 VAR_077864 p.Thr1637Ser US - ZTTK syndrome (ZTTKS) [MIM:617140] SON P18583 VAR_077865 p.Ser1843Tyr US - ZTTK syndrome (ZTTKS) [MIM:617140] SORBS1 Q9BX66 VAR_019653 p.Arg74Trp LB/B rs757431022 - SORBS1 Q9BX66 VAR_019654 p.Thr237Ala LB/B rs2281939 - SORBS1 Q9BX66 VAR_035661 p.Thr195Ala US - A breast cancer sample SORBS1 Q9BX66 VAR_047652 p.Leu61Pro LB/B rs943542 - SORBS1 Q9BX66 VAR_047653 p.Gly175Val LB/B rs7081076 - SORBS1 Q9BX66 VAR_047654 p.Tyr485Cys LB/B rs35808802 - SORBS2 O94875 VAR_045624 p.Ala1048Val LB/B rs725185 - SORBS3 O60504 VAR_055019 p.Ile556Thr LB/B rs2449331 - SORBS3 O60504 VAR_055020 p.Thr573Ala LB/B rs1047030 - SORBS3 O60504 VAR_057019 p.Pro255Leu LB/B rs3758036 - SORCS1 Q8WY21 VAR_036374 p.Lys223Asn US - A breast cancer sample SORCS2 Q96PQ0 VAR_060109 p.Gly345Arg LB/B rs34058821 - SORCS2 Q96PQ0 VAR_060110 p.Thr695Met LB/B rs16840892 - SORCS2 Q96PQ0 VAR_060111 p.Thr745Ile LB/B rs16840899 - SORD Q00796 VAR_000430 p.Gln239Leu LB/B rs1042079 - SORD Q00796 VAR_060351 p.Asn269Thr LB/B rs930337 - SORD Q00796 VAR_084362 p.Leu10Phe LP/P - Neuronopathy, distal hereditary motor, autosomal recessive 8 (HMNR8) [MIM:618912] SORD Q00796 VAR_084364 p.Arg110Pro LP/P - Neuronopathy, distal hereditary motor, autosomal recessive 8 (HMNR8) [MIM:618912] SORD Q00796 VAR_084365 p.His135Arg LP/P - Neuronopathy, distal hereditary motor, autosomal recessive 8 (HMNR8) [MIM:618912] SORD Q00796 VAR_084366 p.Ala153Asp US rs145813597 Neuronopathy, distal hereditary motor, autosomal recessive 8 (HMNR8) [MIM:618912] SORD Q00796 VAR_084369 p.Val322Ile US rs149975952 Neuronopathy, distal hereditary motor, autosomal recessive 8 (HMNR8) [MIM:618912] SORL1 Q92673 VAR_020360 p.Ala528Thr LB/B rs2298813 - SORL1 Q92673 VAR_034508 p.Gln1074Glu LB/B rs1699107 - SORL1 Q92673 VAR_034509 p.Val1967Ile LB/B rs1792120 - SORL1 Q92673 VAR_036371 p.Leu120Ser US - A breast cancer sample SORL1 Q92673 VAR_036372 p.Met1581Leu US - A breast cancer sample SORL1 Q92673 VAR_036373 p.Leu1972Val US rs766895956 A colorectal cancer sample SORL1 Q92673 VAR_070012 p.Tyr141Cys US - Alzheimer disease (AD) [MIM:104300] SORL1 Q92673 VAR_070013 p.Gly511Arg US - Alzheimer disease (AD) [MIM:104300] SORL1 Q92673 VAR_070014 p.Asn924Ser US rs377498269 Alzheimer disease (AD) [MIM:104300] SORL1 Q92673 VAR_070015 p.Asn1358Ser US rs747306346 Alzheimer disease (AD) [MIM:104300] SORL1 Q92673 VAR_070016 p.Gly1681Asp US rs1565352546 Alzheimer disease (AD) [MIM:104300] SORT1 Q99523 VAR_053681 p.Asp358Tyr LB/B rs2228605 - SOS1 Q07889 VAR_030423 p.Glu108Lys LP/P rs397517164 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030424 p.Thr266Lys LP/P rs137852812 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030425 p.Met269Arg LP/P rs137852813 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030426 p.Asp309Tyr LP/P rs397517180 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030427 p.Tyr337Cys LP/P rs724160007 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030428 p.Trp432Arg LP/P rs267607080 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030429 p.Glu433Lys LP/P rs397517147 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030430 p.Gly434Arg LP/P rs397517148 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030431 p.Cys441Tyr LP/P rs727504295 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030432 p.Ser548Arg LP/P rs397517149 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030433 p.Leu550Pro LP/P rs397517153 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030434 p.Arg552Gly LP/P rs137852814 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030435 p.Arg552Lys LP/P rs397517154 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030436 p.Arg552Ser LP/P rs267607079 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030437 p.Pro655Leu LB/B rs56219475 - SOS1 Q07889 VAR_030438 p.Tyr702His LP/P rs727505381 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030439 p.Trp729Leu LP/P - Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030440 p.Ile733Phe LP/P rs574088829 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030441 p.Glu846Lys LP/P rs397517159 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030442 p.Gln977Arg LB/B - - SOS1 Q07889 VAR_030443 p.His1320Arg LB/B - - SOS1 Q07889 VAR_064504 p.Met269Thr LP/P rs137852813 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_064505 p.Gln477Arg LP/P rs730881044 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_064506 p.Arg497Gln LP/P rs371314838 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066031 p.Thr37Ala LB/B rs150565592 - SOS1 Q07889 VAR_066032 p.Pro102Arg LP/P rs1553362937 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066033 p.Pro112Arg LP/P rs397517166 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066034 p.Lys170Glu LP/P rs397517172 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066035 p.Ile252Thr LP/P rs142094234 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066036 p.Thr378Ala LP/P rs397517146 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066037 p.Met422Val LP/P - Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066038 p.Glu424Lys LP/P rs730881041 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066041 p.Gly434Lys LP/P rs730881048 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066042 p.Ile437Thr LP/P rs397517150 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066043 p.Pro478Leu LB/B rs1553356111 - SOS1 Q07889 VAR_066044 p.Pro478Arg LP/P rs1553356111 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066045 p.Gly482Arg LP/P rs1431574387 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066046 p.Leu490Arg LP/P - Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066047 p.Thr549Lys LP/P rs730881046 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066048 p.Arg552Met LP/P rs397517154 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066049 p.Arg552Thr LP/P rs397517154 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066051 p.Leu569Val LB/B rs200786705 - SOS1 Q07889 VAR_066052 p.Phe623Ile LP/P rs727505093 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066053 p.Ala708Thr LB/B rs140811086 - SOS1 Q07889 VAR_066054 p.Ile784Thr LB/B rs1335137808 - SOS1 Q07889 VAR_066055 p.Pro894Arg LP/P rs1367714753 Noonan syndrome 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_066056 p.Asn1011Ser LB/B rs8192671 - SOS1 Q07889 VAR_066057 p.Arg1131Lys LB/B rs768113420 - SOS1 Q07889 VAR_066058 p.Leu1140Ile LB/B rs375550588 - SOS1 Q07889 VAR_066059 p.Thr1257Ala LB/B rs553805862 - SOS2 Q07890 VAR_034441 p.Leu672Ile LB/B rs34139502 - SOS2 Q07890 VAR_054327 p.Ser483Asn LB/B rs17122201 - SOS2 Q07890 VAR_054328 p.His508Tyr LB/B rs8010237 - SOS2 Q07890 VAR_075686 p.Met267Lys LP/P rs797045167 Noonan syndrome 9 (NS9) [MIM:616559] SOS2 Q07890 VAR_075687 p.Asn310Lys US - Noonan syndrome 9 (NS9) [MIM:616559] SOS2 Q07890 VAR_075688 p.Arg334His US rs373233749 Noonan syndrome 9 (NS9) [MIM:616559] SOS2 Q07890 VAR_075689 p.Thr376Ser LP/P rs869320687 Noonan syndrome 9 (NS9) [MIM:616559] SOS2 Q07890 VAR_075690 p.Thr449Ala LB/B rs768547025 - SOS2 Q07890 VAR_075691 p.Asp952Asn LB/B rs200387871 - SOS2 Q07890 VAR_075692 p.Pro1092Leu US rs1442962879 Noonan syndrome 9 (NS9) [MIM:616559] SOST Q9BQB4 VAR_063982 p.Cys167Arg LP/P - Sclerosteosis 1 (SOST1) [MIM:269500] SOST Q9BQB4 VAR_065766 p.Val21Leu LP/P rs387907169 Craniodiaphyseal dysplasia autosomal dominant (CDD) [MIM:122860] SOST Q9BQB4 VAR_065767 p.Val21Met LP/P rs387907169 Craniodiaphyseal dysplasia autosomal dominant (CDD) [MIM:122860] SOSTDC1 Q6X4U4 VAR_053682 p.Gln189His LB/B rs34016012 - SOWAHA Q2M3V2 VAR_059125 p.Arg124Pro LB/B rs40274 - SOWAHA Q2M3V2 VAR_060465 p.Leu545Phe LB/B rs40470 - SOWAHB A6NEL2 VAR_048280 p.Pro377Thr LB/B rs2703130 - SOWAHB A6NEL2 VAR_059126 p.Asp152Gly LB/B rs2703129 - SOWAHD A6NJG2 VAR_061019 p.Thr254Ala LB/B rs12841259 - SOX10 P56693 VAR_021386 p.Ser135Thr LP/P rs74315515 Waardenburg syndrome 2E (WS2E) [MIM:611584] SOX10 P56693 VAR_066747 p.Arg106Trp LP/P - Waardenburg syndrome 4C (WS4C) [MIM:613266] SOX10 P56693 VAR_066748 p.Met112Ile LP/P - Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136] SOX10 P56693 VAR_066748 p.Met112Ile LP/P - Waardenburg syndrome 2E (WS2E) [MIM:611584] SOX10 P56693 VAR_066749 p.Asn131His LP/P - Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136] SOX10 P56693 VAR_066750 p.Leu145Pro LP/P - Waardenburg syndrome 4C (WS4C) [MIM:613266] SOX10 P56693 VAR_066751 p.Lys150Asn LP/P - Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136] SOX10 P56693 VAR_066752 p.Ala157Val LP/P rs121909117 Waardenburg syndrome 4C (WS4C) [MIM:613266] SOX10 P56693 VAR_066753 p.Arg161His LP/P rs750566714 Waardenburg syndrome 2E (WS2E) [MIM:611584] SOX10 P56693 VAR_066754 p.Gln174Pro LP/P rs267607081 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136] SOX10 P56693 VAR_066755 p.Pro175Ala LP/P - Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136] SOX10 P56693 VAR_066756 p.Pro175Leu LP/P - Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136] SOX10 P56693 VAR_066757 p.Pro175Arg LP/P - Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136] SOX10 P56693 VAR_066758 p.Gly321Arg LP/P - Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136] SOX10 P56693 VAR_072981 p.Met108Thr US - - SOX10 P56693 VAR_072982 p.Phe111Val US - - SOX10 P56693 VAR_072983 p.Ser135Gly US - - SOX10 P56693 VAR_072984 p.Arg151Cys LB/B rs1463736052 - SOX10 P56693 VAR_072985 p.Arg161Cys US - - SOX11 P35716 VAR_071461 p.Ser60Pro LP/P rs587777480 Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_071462 p.Tyr116Cys LP/P rs587777479 Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088027 p.Gly47Ser US - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088028 p.His48Asp US - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088029 p.Ile49Asn LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088030 p.Lys50Asn LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088031 p.Lys50Gln LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088032 p.Arg51Gly LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088033 p.Arg51Leu LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088034 p.Arg51Gln LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088035 p.Arg51Trp LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088036 p.Pro52Leu LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088037 p.Met53Ile LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088038 p.Met53Arg LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088039 p.Met53Val LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088040 p.Ala55Thr LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088041 p.Phe56Leu LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088042 p.Met57Thr LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088044 p.Arg64Cys LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088045 p.Arg64Leu LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088046 p.Arg64Pro LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088047 p.Arg64Ser LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088048 p.His75Asp LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088049 p.Asn76Asp LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088050 p.Gly84Ser LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088051 p.Trp87Arg LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088052 p.Phe98Leu US - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088053 p.Arg100Pro LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088054 p.Ala102Val LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088055 p.Arg106Pro LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088056 p.His109Pro LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088057 p.Tyr113His LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088058 p.Pro120His LP/P - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088059 p.Ala142Gly US - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX11 P35716 VAR_088060 p.Ala176Glu US - Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866] SOX13 Q9UN79 VAR_062671 p.Pro532Ser LB/B rs34758764 - SOX17 Q9H6I2 VAR_065169 p.Gly178Cys LP/P rs267607082 Vesicoureteral reflux 3 (VUR3) [MIM:613674] SOX17 Q9H6I2 VAR_065170 p.Tyr259Asn LP/P rs267607083 Vesicoureteral reflux 3 (VUR3) [MIM:613674] SOX17 Q9H6I2 VAR_078774 p.Ala33Asp LB/B rs189384157 - SOX18 P35713 VAR_016210 p.Trp95Arg LP/P rs28936693 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823] SOX18 P35713 VAR_016211 p.Ala104Pro LP/P rs28936692 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823] SOX2 P48431 VAR_075627 p.Trp51Arg US - Microphthalmia, syndromic, 3 (MCOPS3) [MIM:206900] SOX2 P48431 VAR_075628 p.Arg74Pro US rs104893805 Microphthalmia, syndromic, 3 (MCOPS3) [MIM:206900] SOX2 P48431 VAR_075629 p.Trp79Ser US - Microphthalmia, syndromic, 3 (MCOPS3) [MIM:206900] SOX21 Q9Y651 VAR_049562 p.Gly230Arg LB/B rs6492735 - SOX3 P41225 VAR_026451 p.Ala43Thr LB/B rs73637709 - SOX30 O94993 VAR_024485 p.Val749Met LB/B rs889057 - SOX30 O94993 VAR_049563 p.Gln429Lys LB/B rs12188040 - SOX4 Q06945 VAR_083360 p.Ile59Ser LP/P rs1582601669 Intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF) [MIM:618506] SOX4 Q06945 VAR_083361 p.Phe66Leu LP/P rs1334099693 Intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF) [MIM:618506] SOX4 Q06945 VAR_083362 p.Lys105Asn LP/P rs1582601747 Intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF) [MIM:618506] SOX4 Q06945 VAR_083363 p.Ala112Pro LP/P rs1464282327 Intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF) [MIM:618506] SOX5 P35711 VAR_065754 p.Gln362Pro LB/B rs144670919 - SOX6 P35712 VAR_084742 p.Trp161Cys US - Tolchin-Le Caignec syndrome (TOLCAS) [MIM:618971] SOX6 P35712 VAR_084744 p.Met625Thr US - Tolchin-Le Caignec syndrome (TOLCAS) [MIM:618971] SOX6 P35712 VAR_084745 p.Trp659Arg US - Tolchin-Le Caignec syndrome (TOLCAS) [MIM:618971] SOX6 P35712 VAR_084746 p.Ser766Leu US - Tolchin-Le Caignec syndrome (TOLCAS) [MIM:618971] SOX9 P48436 VAR_003735 p.Pro108Leu LP/P - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_003736 p.Phe112Leu LP/P rs1407667250 Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_003737 p.Phe112Ser LP/P - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_003738 p.Ala119Val LP/P - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_003739 p.Trp143Arg LP/P - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_003740 p.Arg152Pro LP/P - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_003741 p.Pro170Arg LP/P - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_008529 p.Phe154Leu LP/P rs137853129 Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_008530 p.Ala158Thr LP/P rs137853130 Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_008531 p.His165Tyr LP/P rs28940282 Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_063642 p.Ala76Glu LP/P rs137853128 Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_063643 p.Met113Thr LP/P - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_063644 p.Met113Val LP/P - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_063645 p.His165Gln LP/P - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_063646 p.Pro170Leu LP/P rs1131691554 Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_063647 p.Lys173Glu LP/P rs104894647 Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_078491 p.His169Pro LP/P - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_078492 p.His169Gln LP/P rs2229989 Campomelic dysplasia (CMD1) [MIM:114290] SP1 P08047 VAR_019971 p.Thr737Ala LB/B rs3741665 - SP100 P23497 VAR_005621 p.Met433Val LB/B rs12724 - SP100 P23497 VAR_005622 p.Ser471Pro LB/B - - SP100 P23497 VAR_034510 p.Glu699Gly LB/B rs34700604 - SP110 Q9HB58 VAR_027170 p.Trp112Arg LB/B rs1129411 - SP110 Q9HB58 VAR_027171 p.Ala128Val LB/B rs11556887 - SP110 Q9HB58 VAR_027172 p.Ala206Val LB/B rs28930679 - SP110 Q9HB58 VAR_027173 p.Glu207Lys LB/B rs9061 - SP110 Q9HB58 VAR_027174 p.Glu212Gly LB/B rs1047254 - SP110 Q9HB58 VAR_027175 p.Met249Val LB/B rs3769838 - SP110 Q9HB58 VAR_027176 p.Glu267Gly LB/B rs1129425 - SP110 Q9HB58 VAR_027177 p.Gly299Arg LB/B rs1365776 - SP110 Q9HB58 VAR_027178 p.Thr367Met LB/B rs59573011 - SP110 Q9HB58 VAR_027179 p.Leu425Ser LB/B rs3948464 - SP110 Q9HB58 VAR_027180 p.Met523Thr LB/B rs1135791 - SP110 Q9HB58 VAR_027181 p.Met579Ile LB/B rs3948463 - SP110 Q9HB58 VAR_036029 p.Met8Thr US rs200067258 A breast cancer sample SP110 Q9HB58 VAR_036030 p.Gly683Ser US - A breast cancer sample SP110 Q9HB58 VAR_047051 p.Ser173Leu LB/B rs41552315 - SP110 Q9HB58 VAR_047052 p.Ser210Ala LB/B rs1063154 - SP140 Q13342 VAR_055555 p.Leu356Phe LB/B rs3820975 - SP140 Q13342 VAR_055556 p.Met512Thr LB/B rs4972945 - SP140 Q13342 VAR_055557 p.Glu516Lys LB/B rs4972946 - SP140 Q13342 VAR_055558 p.Arg558Cys LB/B rs11887179 - SP140L Q9H930 VAR_059144 p.Met88Thr LB/B rs4973318 - SP140L Q9H930 VAR_059145 p.Thr225Met LB/B rs28497362 - SP140L Q9H930 VAR_059146 p.Pro377Ser LB/B rs7590429 - SP3 Q02447 VAR_016123 p.Thr164Ala LB/B rs1047640 - SP4 Q02446 VAR_047975 p.Gln197Lys LB/B rs1042848 - SP5 Q6BEB4 VAR_052713 p.Ala75Thr LB/B rs3749036 - SP6 Q3SY56 VAR_052714 p.Val156Ile LB/B rs34309518 - SP6 Q3SY56 VAR_087744 p.Ala273Lys LP/P - Amelogenesis imperfecta 1K (AI1K) [MIM:620104] SP6 Q3SY56 VAR_087745 p.Ala273Met LP/P - Amelogenesis imperfecta 1K (AI1K) [MIM:620104] SPACA1 Q9HBV2 VAR_027258 p.Leu237Ser LB/B rs2276089 - SPACA3 Q8IXA5 VAR_028885 p.Cys80Tyr LB/B rs16967845 - SPACA3 Q8IXA5 VAR_028886 p.His100Arg LB/B rs28963 - SPACA3 Q8IXA5 VAR_050008 p.Ala128Thr LB/B rs35420663 - SPACA7 Q96KW9 VAR_030260 p.Val111Asp LB/B rs10816 - SPACA7 Q96KW9 VAR_035675 p.Arg25Trp US rs376712879 A colorectal cancer sample SPACA9 Q96E40 VAR_056817 p.Val104Ile LB/B rs2231406 - SPAG1 Q07617 VAR_054324 p.Glu331Lys LB/B rs17335870 - SPAG1 Q07617 VAR_054325 p.Met777Thr LB/B rs6511 - SPAG1 Q07617 VAR_054326 p.His827Tyr LB/B rs6510 - SPAG11B Q08648 VAR_005269 p.Arg77Gln LB/B rs2853658 - SPAG11B Q08648 VAR_053683 p.Asp89Gly LB/B rs2738035 - SPAG16 Q8N0X2 VAR_022366 p.Gln361His LB/B rs2042791 - SPAG16 Q8N0X2 VAR_022367 p.Lys425Thr LB/B rs12623569 - SPAG16 Q8N0X2 VAR_053418 p.Pro324Thr LB/B rs10167688 - SPAG17 Q6Q759 VAR_042863 p.Arg143Gln LB/B rs12133381 - SPAG17 Q6Q759 VAR_042864 p.Glu158Val LB/B rs17185492 - SPAG17 Q6Q759 VAR_042865 p.Thr1253Pro LB/B rs34366834 - SPAG17 Q6Q759 VAR_042866 p.Pro1348Leu LB/B rs10923472 - SPAG17 Q6Q759 VAR_042867 p.Asp1707Glu US - A colorectal cancer sample SPAG17 Q6Q759 VAR_085965 p.Arg1448Gln US rs752115449 Spermatogenic failure 55 (SPGF55) [MIM:619380] SPAG6 O75602 VAR_024282 p.Gln216Arg LB/B rs7074847 - SPAG6 O75602 VAR_035659 p.Val106Leu US - A breast cancer sample SPAG8 Q99932 VAR_056992 p.Ala69Thr LB/B rs13299596 - SPAG8 Q99932 VAR_069166 p.Pro226Leu LB/B rs17851728 - SPAG9 O60271 VAR_059364 p.Asn1320Ser LB/B rs9896965 - SPAM1 P38567 VAR_049213 p.Val47Ala LB/B rs34633019 - SPAM1 P38567 VAR_064756 p.Lys5Gln US - - SPANXB1 Q9NS25 VAR_021163 p.Leu74Val LB/B rs878856926 - SPANXC Q9NY87 VAR_032024 p.Val59Phe LB/B - - SPANXD Q9BXN6 VAR_034516 p.Val68Leu LB/B rs5953618 - SPANXN2 Q5MJ10 VAR_032025 p.Thr8Ile LB/B rs79543398 - SPANXN3 Q5MJ09 VAR_032026 p.Asn43Lys LB/B rs6654212 - SPANXN3 Q5MJ09 VAR_053684 p.Val89Ile LB/B rs5953851 - SPANXN4 Q5MJ08 VAR_032027 p.Lys48Asn LB/B rs10482390 - SPARC P09486 VAR_050431 p.Pro19Ser LB/B rs6874468 - SPARC P09486 VAR_059530 p.Asn70Ser LB/B rs13359508 - SPARC P09486 VAR_075142 p.Arg166His LP/P rs1057517662 Osteogenesis imperfecta 17 (OI17) [MIM:616507] SPARC P09486 VAR_075143 p.Glu263Lys LP/P rs1057517663 Osteogenesis imperfecta 17 (OI17) [MIM:616507] SPARCL1 Q14515 VAR_016107 p.Ala49Asp LB/B rs13051 - SPARCL1 Q14515 VAR_056578 p.Thr419Ala LB/B rs1130643 - SPARCL1 Q14515 VAR_058849 p.His106Asp LB/B rs1049544 - SPART Q8N0X7 VAR_079569 p.Met330Val LP/P rs1399213398 Spastic paraplegia 20, autosomal recessive (SPG20) [MIM:275900] SPART Q8N0X7 VAR_079570 p.Ala442Pro US - Spastic paraplegia 20, autosomal recessive (SPG20) [MIM:275900] SPAST Q9UBP0 VAR_010194 p.Ser44Leu LB/B rs121908515 - SPAST Q9UBP0 VAR_010195 p.Ser362Cys LP/P rs121908509 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_010196 p.Arg424Gly LP/P rs1553318169 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_010197 p.Cys448Tyr LP/P rs121908510 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_010198 p.Arg499Cys LP/P rs121908511 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_010199 p.Asp584His LP/P - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019439 p.Leu378Gln LP/P rs1553316816 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019440 p.Asn386Ser LP/P rs121908514 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019441 p.Met390Val LP/P rs797044850 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019442 p.Arg503Leu LP/P rs1553319087 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019444 p.Leu534Pro LP/P rs1553319317 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019445 p.Thr614Ile LP/P rs1573186691 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019448 p.Ile344Lys LP/P rs121908513 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019450 p.Ser407Arg LP/P rs1553317041 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019451 p.Ala551Tyr LP/P - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019452 p.Thr615Ile LP/P rs765941217 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_026758 p.Leu195Val LP/P rs1553400016 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_026759 p.Ile406Val LP/P rs587777757 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_026760 p.Asp493Gly LP/P rs1553318342 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_026761 p.Arg499His LP/P rs878854991 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_026762 p.Arg503Trp LP/P rs864622162 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_026763 p.Trp607Cys LP/P rs1553321266 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027205 p.Pro45Gln LB/B rs121908517 - SPAST Q9UBP0 VAR_027206 p.Gln347Lys LP/P rs1553315329 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027207 p.Pro361Leu LP/P rs1553315352 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027208 p.Gly370Arg LP/P - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027209 p.Phe381Cys LP/P rs1553316822 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027210 p.Asn386Lys LP/P rs1553316834 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027211 p.Lys388Arg LP/P rs1553316837 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027212 p.Ser399Leu LP/P rs1553317025 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027213 p.Leu426Val LP/P rs1060502227 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027214 p.Pro435Leu LP/P rs1553318182 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027215 p.Ser436Phe LP/P rs1553318184 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027216 p.Asp441Gly LP/P rs121908512 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027217 p.Arg459Gly LP/P rs1553318238 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027218 p.Arg460Cys LP/P rs878854990 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027219 p.Arg460Leu LP/P rs1553318241 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027220 p.Asp470Val LP/P rs121908516 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027221 p.Ala485Val LP/P rs536599683 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027222 p.Pro489Leu LP/P rs1553318331 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027223 p.Glu512Asp LP/P rs1553319093 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027224 p.Asp555Asn LP/P rs1553319546 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027225 p.Ala556Val LP/P - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027226 p.Gly559Asp LP/P rs864622179 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027227 p.Arg562Gly LP/P rs121908518 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027228 p.Arg562Gln LP/P rs863224923 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_035902 p.Val423Leu US rs1553318168 A breast cancer sample SPAST Q9UBP0 VAR_067563 p.Val162Ile LP/P rs141944844 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067564 p.Glu356Lys US rs1057519181 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067565 p.Pro365Ser US - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067566 p.Gly382Arg US rs1553316826 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067567 p.Ser407Ile US - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067568 p.Ser413Leu LP/P rs1553317045 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067569 p.Leu422Phe US rs1679543653 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067570 p.Ser445Asn US rs1131691838 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067571 p.Glu454Lys LP/P rs1553318230 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067572 p.Arg460Ser LP/P rs878854990 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067573 p.Val482Leu US rs1553318315 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067575 p.Leu534Val US rs1553319314 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067576 p.Arg562Pro US - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067628 p.Pro97Thr US rs372005558 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067629 p.Val201Asp US rs1553311831 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067630 p.Ser229Gly LB/B rs1182763020 - SPAST Q9UBP0 VAR_067632 p.Pro293Leu LP/P rs773193617 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067633 p.Leu314Ser US rs1553315215 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067634 p.Ile328Leu US - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067635 p.Leu360Val US rs1553315347 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067636 p.Arg364Thr LP/P rs1553315355 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067637 p.Leu378Arg LP/P rs1553316816 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067638 p.Leu380His LP/P rs1553316819 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067639 p.Leu391Pro LP/P rs1553316845 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067641 p.Ala409Thr LP/P rs1064793273 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067642 p.Ser410Arg LP/P rs1679266894 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067643 p.Leu426Phe LP/P rs1060502227 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067644 p.Ser436Pro LP/P - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067645 p.Asp441Asn LP/P rs1553318188 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067646 p.Thr463Ala LP/P rs1553318248 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067647 p.Glu464Ala US rs1553318251 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067648 p.Leu492Phe LP/P rs1553318337 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067649 p.Arg498Gly LP/P rs1553318350 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067651 p.Arg514Gly LP/P rs1553319286 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067652 p.Thr550Ile US rs1553319537 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067653 p.Asn579His US rs144594804 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_067654 p.Ile580Thr LP/P rs1553321202 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_075828 p.Ala95Thr LP/P rs1343258361 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_075834 p.Arg309His LP/P rs202152835 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_075835 p.Leu363Pro LP/P - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_075836 p.Arg364Met LP/P rs1553315355 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_075837 p.Phe368Leu LP/P - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_075838 p.Arg372Gly LP/P rs1553316807 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_075839 p.Gly377Glu LP/P - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_075840 p.Ile406Arg LP/P rs1553317038 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_075842 p.Asp441Val LP/P - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_075843 p.Arg450Ser LP/P rs1553318224 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_075845 p.Ser458Arg LP/P rs1036039694 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_075846 p.Leu461Pro LP/P rs1553318242 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_075848 p.Asp555Gly LP/P rs1553319548 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_075849 p.Gly559Arg LP/P rs878854992 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_075852 p.Ser595Arg LP/P rs1553321245 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_079314 p.Ile328Lys US - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_079315 p.Glu366Lys US rs1553315356 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_079316 p.Phe368Val US - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_079317 p.Arg372Thr US - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_079318 p.Asn386Tyr US - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_079319 p.Met390Thr US rs1131691977 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_079320 p.Glu418Ala US - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_079321 p.Asp470Tyr US rs1553318261 Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_079322 p.Ala485Thr US - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_079323 p.Arg498Met US - Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPATA1 Q5VX52 VAR_046284 p.Val175Leu LB/B rs10493753 - SPATA13 Q96N96 VAR_030776 p.Arg20Trp LB/B rs7330736 - SPATA13 Q96N96 VAR_080767 p.Arg89Trp US rs201402934 - SPATA16 Q9BXB7 VAR_038329 p.Asn50Ser LB/B rs16846624 - SPATA16 Q9BXB7 VAR_038330 p.Glu78Lys LB/B rs1515441 - SPATA16 Q9BXB7 VAR_038331 p.Glu90Gly LB/B rs11558933 - SPATA16 Q9BXB7 VAR_038332 p.Met133Val LB/B rs1515442 - SPATA16 Q9BXB7 VAR_038333 p.Gly147Glu LB/B rs16846616 - SPATA16 Q9BXB7 VAR_038334 p.Arg283Gln LP/P rs137853118 Spermatogenic failure 6 (SPGF6) [MIM:102530] SPATA16 Q9BXB7 VAR_038335 p.Met286Val LB/B - - SPATA16 Q9BXB7 VAR_038336 p.Val423Met LB/B rs373336427 - SPATA16 Q9BXB7 VAR_038337 p.Ala509Val LB/B rs115095786 - SPATA16 Q9BXB7 VAR_038338 p.Met526Thr LB/B rs62622782 - SPATA16 Q9BXB7 VAR_038339 p.Gln564Arg LB/B rs952207260 - SPATA17 Q96L03 VAR_051382 p.Asn16Ser LB/B rs34652544 - SPATA18 Q8TC71 VAR_028828 p.Ser227Pro LB/B rs3860707 - SPATA18 Q8TC71 VAR_028829 p.Lys483Arg LB/B rs11558773 - SPATA19 Q7Z5L4 VAR_027697 p.Ala50Val LB/B rs2282602 - SPATA2 Q9UM82 VAR_051368 p.Leu443Phe LB/B rs2072985 - SPATA20 Q8TB22 VAR_030777 p.Gln88Glu LB/B rs8076632 - SPATA20 Q8TB22 VAR_030778 p.Ser483Thr LB/B rs9913430 - SPATA20 Q8TB22 VAR_030779 p.Lys609Arg LB/B rs8065903 - SPATA21 Q7Z572 VAR_042711 p.Pro24Ser US rs1343712054 A breast cancer sample SPATA21 Q7Z572 VAR_042712 p.Ile53Leu LB/B rs12087671 - SPATA21 Q7Z572 VAR_042713 p.Gln184Arg LB/B rs4661746 - SPATA21 Q7Z572 VAR_042714 p.Val255Leu LB/B rs525409 - SPATA21 Q7Z572 VAR_042715 p.Asn390Lys LB/B rs12133574 - SPATA22 Q8NHS9 VAR_027693 p.Arg112Thr LB/B rs2291604 - SPATA22 Q8NHS9 VAR_027694 p.Val148Met LB/B rs1488690 - SPATA22 Q8NHS9 VAR_027695 p.Gln155Arg LB/B rs11556563 - SPATA22 Q8NHS9 VAR_027696 p.Ile160Thr LB/B rs1488689 - SPATA25 Q9BR10 VAR_015146 p.Pro94Leu LB/B rs3827040 - SPATA31E1 Q6ZUB1 VAR_022858 p.Thr335Pro LB/B rs7850542 - SPATA31E1 Q6ZUB1 VAR_022859 p.Asp682Glu LB/B rs4076795 - SPATA31E1 Q6ZUB1 VAR_022860 p.Asp704Glu LB/B rs4076794 - SPATA31E1 Q6ZUB1 VAR_022861 p.Asp1202Gly LB/B rs11789780 - SPATA31E1 Q6ZUB1 VAR_022862 p.Arg1350His LB/B rs11142017 - SPATA31E1 Q6ZUB1 VAR_053943 p.Val409Met LB/B rs34946554 - SPATA31E1 Q6ZUB1 VAR_053944 p.Lys586Glu LB/B rs35232271 - SPATA31E1 Q6ZUB1 VAR_053945 p.Thr671Met LB/B rs36079890 - SPATA31E1 Q6ZUB1 VAR_053946 p.Gly700Arg LB/B rs34017995 - SPATA31E1 Q6ZUB1 VAR_053947 p.Ala736Val LB/B rs34791830 - SPATA31E1 Q6ZUB1 VAR_053948 p.Pro924Leu LB/B rs34051334 - SPATA31E1 Q6ZUB1 VAR_053949 p.Val1019Glu LB/B rs10868670 - SPATA31E1 Q6ZUB1 VAR_062203 p.Thr208Ser LB/B rs28510722 - SPATA31F2P Q63HN1 VAR_036833 p.Asn72Lys LB/B rs521552 - SPATA31F2P Q63HN1 VAR_036834 p.Asp203Glu LB/B rs524512 - SPATA31G1 Q5VYM1 VAR_047239 p.Trp222Leu LB/B rs615474 - SPATA31G1 Q5VYM1 VAR_047240 p.Leu285Phe LB/B rs10117097 - SPATA31G1 Q5VYM1 VAR_047241 p.Leu437Val LB/B rs35523761 - SPATA31G1 Q5VYM1 VAR_047242 p.Ser623Thr LB/B rs2298312 - SPATA31G1 Q5VYM1 VAR_047243 p.Pro916Ser LB/B rs3739871 - SPATA31H1 Q68DN1 VAR_031313 p.Arg357Gly LB/B rs17006143 - SPATA31H1 Q68DN1 VAR_031314 p.Asp505Val LB/B rs13410886 - SPATA31H1 Q68DN1 VAR_031315 p.Thr655Ser LB/B rs1919125 - SPATA31H1 Q68DN1 VAR_031316 p.Ala660Glu LB/B rs1919126 - SPATA31H1 Q68DN1 VAR_031317 p.Val685Ala LB/B rs1919127 - SPATA31H1 Q68DN1 VAR_031318 p.Ile767Thr LB/B rs13416968 - SPATA31H1 Q68DN1 VAR_031319 p.Ile774Val LB/B rs1919128 - SPATA31H1 Q68DN1 VAR_031320 p.Ser1500Phe LB/B rs12618071 - SPATA31H1 Q68DN1 VAR_031321 p.His1559Tyr LB/B rs13392197 - SPATA31H1 Q68DN1 VAR_031322 p.Asn1613Ser LB/B rs13031957 - SPATA31H1 Q68DN1 VAR_031323 p.Ser1665Pro LB/B rs28381983 - SPATA32 Q96LK8 VAR_060279 p.Val142Met LB/B rs11651968 - SPATA33 Q96N06 VAR_050897 p.Ser45Leu LB/B rs13329897 - SPATA4 Q8NEY3 VAR_051369 p.Tyr149Cys LB/B rs17062589 - SPATA45 Q537H7 VAR_060195 p.Ile8Thr LB/B rs10864004 - SPATA46 Q5T0L3 VAR_030904 p.Ala69Val LB/B rs164181 - SPATA46 Q5T0L3 VAR_030905 p.Arg217His LB/B rs17853130 - SPATA6 Q9NWH7 VAR_030774 p.Arg333Trp LB/B rs1338314 - SPATA6 Q9NWH7 VAR_030775 p.Cys478Tyr LB/B rs1056042 - SPATA6 Q9NWH7 VAR_062174 p.Cys478Phe LB/B rs1056042 - SPATA6 Q9NWH7 VAR_062175 p.Cys478Ser LB/B rs1056042 - SPATA6L Q8N4H0 VAR_053838 p.Arg243Gly LB/B rs10974657 - SPATA6L Q8N4H0 VAR_053839 p.Ala310Thr LB/B rs16921613 - SPATA7 Q9P0W8 VAR_016912 p.Val74Met LB/B rs3179969 - SPATA7 Q9P0W8 VAR_051370 p.Asp2Asn LB/B rs4904448 - SPATA7 Q9P0W8 VAR_051371 p.Phe119Leu LB/B rs35137272 - SPATA7 Q9P0W8 VAR_051372 p.Ser165Asn LB/B rs17124662 - SPATA7 Q9P0W8 VAR_051373 p.Gly324Glu LB/B rs17124677 - SPATA7 Q9P0W8 VAR_051374 p.Arg534Gln LB/B rs10139784 - SPATA7 Q9P0W8 VAR_067191 p.Ile332Thr LB/B rs534658921 - SPATA9 Q9BWV2 VAR_051375 p.Lys209Glu LB/B rs34297786 - SPATC1L Q9H0A9 VAR_059639 p.Pro113Leu LB/B rs884134 - SPATC1L Q9H0A9 VAR_059640 p.Ser298Asn LB/B rs14378 - SPATS1 Q496A3 VAR_036631 p.Gly8Arg LB/B rs10948132 - SPDEF O95238 VAR_048955 p.Ala57Thr LB/B rs2233639 - SPDL1 Q96EA4 VAR_030307 p.Tyr508His LB/B rs3797713 - SPDL1 Q96EA4 VAR_030308 p.Leu586Ser LB/B rs3777084 - SPECC1 Q5M775 VAR_028800 p.Met293Leu LB/B rs2703806 - SPECC1 Q5M775 VAR_053055 p.Ser274Arg LB/B rs9908032 - SPECC1 Q5M775 VAR_053056 p.Asp769Asn LB/B rs35835131 - SPECC1L Q69YQ0 VAR_060448 p.Gly301Asp LB/B rs204710 - SPECC1L Q69YQ0 VAR_060449 p.Ser712Phe LB/B rs5760340 - SPECC1L Q69YQ0 VAR_060450 p.Thr717Ala LB/B rs6004132 - SPECC1L Q69YQ0 VAR_060451 p.Val943Ala LB/B rs11704759 - SPECC1L Q69YQ0 VAR_060452 p.Val951Met LB/B rs204718 - SPECC1L Q69YQ0 VAR_066872 p.Thr190Met LB/B rs142144652 - SPECC1L Q69YQ0 VAR_066873 p.Gln415Pro LP/P rs387907108 Facial clefting, oblique, 1 (OBLFC1) [MIM:600251] SPECC1L Q69YQ0 VAR_073384 p.Thr397Pro LP/P rs786201030 Teebi hypertelorism syndrome 1 (TBHS1) [MIM:145420] SPECC1L Q69YQ0 VAR_073385 p.Gly1083Ser LP/P rs786201031 Teebi hypertelorism syndrome 1 (TBHS1) [MIM:145420] SPECC1L Q69YQ0 VAR_081479 p.Glu420Asp US - Teebi hypertelorism syndrome 1 (TBHS1) [MIM:145420] SPEF2 Q9C093 VAR_034766 p.Asn71His LB/B rs6897513 - SPEF2 Q9C093 VAR_034767 p.Gly74Ser LB/B rs34307272 - SPEF2 Q9C093 VAR_034768 p.Arg366Lys LB/B rs16902381 - SPEF2 Q9C093 VAR_034769 p.Arg447Gln LB/B rs34852821 - SPEF2 Q9C093 VAR_034770 p.Asp500Asn LB/B rs34708521 - SPEF2 Q9C093 VAR_034771 p.Asn616Lys LB/B rs7710284 - SPEF2 Q9C093 VAR_034772 p.Glu655Gly LB/B rs12332369 - SPEF2 Q9C093 VAR_034773 p.Lys1482Asn LB/B rs2277044 - SPEF2 Q9C093 VAR_051376 p.Ala904Val LB/B rs13170082 - SPEF2 Q9C093 VAR_051377 p.Ala934Pro LB/B rs13170390 - SPEG Q15772 VAR_041101 p.Arg206His LB/B rs55821435 - SPEG Q15772 VAR_041102 p.Arg934Cys LB/B rs34398769 - SPEG Q15772 VAR_041103 p.Arg966Gln LB/B rs34861443 - SPEG Q15772 VAR_041104 p.Pro1103Leu LB/B rs56334571 - SPEG Q15772 VAR_041105 p.Ala1135Val LB/B rs55670811 - SPEG Q15772 VAR_041106 p.Glu1178Asp US rs757589345 A gastric adenocarcinoma sample SPEG Q15772 VAR_041107 p.Arg1234Trp LB/B rs55916864 - SPEG Q15772 VAR_041108 p.Arg1340Gln LB/B rs34994343 - SPEG Q15772 VAR_041109 p.Arg1621Cys LB/B rs55646900 - SPEG Q15772 VAR_041110 p.Arg1903Trp US rs762000831 An ovarian mucinous carcinoma sample SPEG Q15772 VAR_041111 p.Pro2687Thr LB/B rs13026308 - SPEG Q15772 VAR_041112 p.Val2742Met US rs566841339 A gastric adenocarcinoma sample SPEG Q15772 VAR_041113 p.His3079Arg LB/B rs12464085 - SPEG Q15772 VAR_059769 p.Pro2189Leu LB/B rs10755037 - SPEG Q15772 VAR_071808 p.Gly2757Val LP/P rs587777676 Myopathy, centronuclear, 5 (CNM5) [MIM:615959] SPEM2 Q0P670 VAR_032145 p.Ser108Ala LB/B rs13290 - SPEM2 Q0P670 VAR_032146 p.Gln376Arg LB/B rs3892554 - SPEN Q96T58 VAR_017119 p.Ala970Val LB/B rs848208 - SPEN Q96T58 VAR_017120 p.Leu1091Pro LB/B rs848209 - SPEN Q96T58 VAR_017121 p.Asn2360Asp LB/B rs848210 - SPEN Q96T58 VAR_035483 p.Asp990His US - A breast cancer sample SPEN Q96T58 VAR_035484 p.Arg1488Ile US - A breast cancer sample SPEN Q96T58 VAR_052208 p.Asp1363Glu LB/B rs12095818 - SPESP1 Q6UW49 VAR_023738 p.Gly191Glu LB/B rs3743093 - SPESP1 Q6UW49 VAR_031430 p.Leu133Phe LB/B rs3743091 - SPESP1 Q6UW49 VAR_056994 p.His134Gln LB/B rs16952684 - SPG11 Q96JI7 VAR_032307 p.Tyr396Cys LB/B rs3759875 - SPG11 Q96JI7 VAR_032308 p.Phe463Ser LB/B rs3759871 - SPG11 Q96JI7 VAR_058417 p.Phe1349Ile LP/P rs1567149547 Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360] SPG11 Q96JI7 VAR_078057 p.Ser412Leu US rs312262723 Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360] SPG11 Q96JI7 VAR_078058 p.Pro1208Leu US rs779830116 Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360] SPG11 Q96JI7 VAR_078059 p.Val1270Asp US rs1555451521 Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360] SPG11 Q96JI7 VAR_078061 p.Leu2300Pro US rs371334506 Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360] SPG11 Q96JI7 VAR_078062 p.Ala2334Pro US rs764647588 Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360] SPG7 Q9UQ90 VAR_017433 p.Thr503Ala LB/B rs2292954 - SPG7 Q9UQ90 VAR_017434 p.Arg688Gln LB/B rs12960 - SPG7 Q9UQ90 VAR_045898 p.Ser692Thr LP/P rs121918357 Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259] SPG7 Q9UQ90 VAR_048117 p.Phe623Cys LB/B rs17783943 - SPG7 Q9UQ90 VAR_048118 p.Asn730Asp LB/B rs35749032 - SPG7 Q9UQ90 VAR_059086 p.Ser645Thr LB/B rs2099104 - SPG7 Q9UQ90 VAR_063603 p.Ala2Thr LB/B rs535030441 - SPG7 Q9UQ90 VAR_063605 p.Phe284Pro US - - SPG7 Q9UQ90 VAR_063606 p.Arg294His LB/B rs115661328 - SPG7 Q9UQ90 VAR_063607 p.Gly349Ser LP/P rs141659620 Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259] SPG7 Q9UQ90 VAR_063608 p.Arg486Gln LB/B rs111475461 - SPG7 Q9UQ90 VAR_063609 p.Ala510Val LP/P rs61755320 Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259] SPG7 Q9UQ90 VAR_063610 p.Phe545Leu LB/B rs758338586 - SPG7 Q9UQ90 VAR_063612 p.Trp583Cys LP/P rs267607085 Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259] SPG7 Q9UQ90 VAR_063613 p.Ala603Thr LB/B rs370852816 - SPG7 Q9UQ90 VAR_063614 p.Ser635Leu LB/B rs864622507 - SPG7 Q9UQ90 VAR_063615 p.Asp650His US - - SPHK2 Q9NRA0 VAR_060112 p.Arg652Gln LB/B rs11881285 - SPHKAP Q2M3C7 VAR_039263 p.Gly425Arg LB/B rs4283414 - SPHKAP Q2M3C7 VAR_039264 p.Lys617Glu LB/B rs3811514 - SPHKAP Q2M3C7 VAR_039265 p.His847Gln LB/B rs3811515 - SPHKAP Q2M3C7 VAR_039266 p.Gln867Arg LB/B rs3828161 - SPHKAP Q2M3C7 VAR_059113 p.Ser1603Arg LB/B rs16824283 - SPI1 P17947 VAR_086813 p.His211Pro LP/P rs2095906547 Agammaglobulinemia 10, autosomal dominant (AGM10) [MIM:619707] SPI1 P17947 VAR_086814 p.Val241Gly LP/P rs2095906404 Agammaglobulinemia 10, autosomal dominant (AGM10) [MIM:619707] SPIB Q01892 VAR_061150 p.Ala104Pro LB/B rs11546996 - SPICE1 Q8N0Z3 VAR_050756 p.Leu275Val LB/B rs16861032 - SPICE1 Q8N0Z3 VAR_050757 p.Arg472Gly LB/B rs7614751 - SPIN1 Q9Y657 VAR_053690 p.Ala221Pro LB/B rs34794905 - SPINDOC Q9BUA3 VAR_061607 p.Glu58Gln LB/B rs35875163 - SPINK1 P00995 VAR_011688 p.Leu14Pro LP/P rs104893939 Pancreatitis, hereditary (PCTT) [MIM:167800] SPINK1 P00995 VAR_011689 p.Asn34Ser LP/P rs17107315 Pancreatitis, hereditary (PCTT) [MIM:167800] SPINK1 P00995 VAR_011689 p.Asn34Ser LP/P rs17107315 Tropical calcific pancreatitis (TCP) [MIM:608189] SPINK1 P00995 VAR_011690 p.Pro55Ser LB/B rs111966833 - SPINK1 P00995 VAR_032011 p.Leu12Phe LP/P rs35877720 Pancreatitis, hereditary (PCTT) [MIM:167800] SPINK1 P00995 VAR_032012 p.Arg67His LB/B rs35523678 - SPINK4 O60575 VAR_011898 p.Val7Ile LB/B rs706107 - SPINK5 Q9NQ38 VAR_015537 p.Lys420Glu LB/B rs2303067 - SPINK5 Q9NQ38 VAR_047115 p.Gln267Arg LB/B rs6892205 - SPINK5 Q9NQ38 VAR_047116 p.Ser368Asn LB/B rs2303063 - SPINK5 Q9NQ38 VAR_047117 p.Asp386Asn LB/B rs2303064 - SPINK5 Q9NQ38 VAR_047118 p.Val395Met LB/B rs17775319 - SPINK5 Q9NQ38 VAR_047119 p.Arg441His LB/B rs34393923 - SPINK5 Q9NQ38 VAR_047120 p.Ile588Met LB/B rs35877540 - SPINK5 Q9NQ38 VAR_047121 p.Arg711Gln LB/B rs3777134 - SPINK5 Q9NQ38 VAR_047122 p.Glu825Asp LB/B rs2303070 - SPINK5 Q9NQ38 VAR_047123 p.Ser887Arg LB/B rs28408445 - SPINK5 Q9NQ38 VAR_047124 p.Lys969Glu LB/B rs3188691 - SPINK5 Q9NQ38 VAR_047125 p.His972Arg LB/B rs17705005 - SPINK5 Q9NQ38 VAR_061337 p.Ala335Val LB/B rs34482796 - SPINK6 Q6UWN8 VAR_034020 p.Pro36Thr LB/B rs12186491 - SPINK8 P0C7L1 VAR_043978 p.Lys78Asn LB/B rs11718350 - SPINT1 O43278 VAR_050065 p.Tyr123Cys LB/B rs11549915 - SPINT1 O43278 VAR_050066 p.Thr142Arg LB/B rs12323939 - SPINT1 O43278 VAR_050067 p.Pro337Leu LB/B rs7165897 - SPINT2 O43291 VAR_012482 p.Val200Leu LB/B rs11548457 - SPINT2 O43291 VAR_058718 p.Tyr163Cys LP/P rs121908403 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies (DIAR3) [MIM:270420] SPINT3 P49223 VAR_059443 p.Leu77Ser LB/B rs6032259 - SPINT4 Q6UDR6 VAR_036795 p.Gly73Ser LB/B rs6017667 - SPINT4 Q6UDR6 VAR_050068 p.Ala30Glu LB/B rs16990631 - SPIRE1 Q08AE8 VAR_058695 p.Gln249Pro LB/B rs1785296 - SPMAP1 A8MV24 VAR_044022 p.Pro61Leu LB/B rs7210156 - SPMAP2 Q9P2T0 VAR_035286 p.Arg202Ile LB/B rs2303810 - SPMAP2 Q9P2T0 VAR_035287 p.Arg267Gln LB/B rs2278287 - SPMAP2 Q9P2T0 VAR_035288 p.His297Tyr LB/B rs10422863 - SPMAP2 Q9P2T0 VAR_035289 p.Asp353Asn LB/B rs3764656 - SPMIP2 Q96LM5 VAR_039901 p.Ala46Val LB/B rs17037864 - SPMIP2 Q96LM5 VAR_039902 p.Ser75Gly LB/B rs662473 - SPMIP2 Q96LM5 VAR_039903 p.Tyr84Cys LB/B rs17037858 - SPMIP2 Q96LM5 VAR_039904 p.Gly93Glu LB/B rs619128 - SPMIP2 Q96LM5 VAR_039905 p.Arg134His LB/B rs10517695 - SPMIP4 Q8N865 VAR_022781 p.Tyr82Cys LB/B rs2717858 - SPMIP4 Q8N865 VAR_022782 p.Ala158Thr LB/B rs12535348 - SPMIP4 Q8N865 VAR_022783 p.Thr187Ser LB/B rs2523072 - SPMIP4 Q8N865 VAR_022784 p.His300Arg LB/B rs2285738 - SPMIP4 Q8N865 VAR_056809 p.Glu13Lys LB/B rs11980216 - SPMIP4 Q8N865 VAR_056810 p.Arg86Cys LB/B rs3213642 - SPMIP4 Q8N865 VAR_056811 p.Pro238Gln LB/B rs11984293 - SPMIP4 Q8N865 VAR_056812 p.Ala249Thr LB/B rs17150982 - SPMIP4 Q8N865 VAR_060608 p.Pro143Gln LB/B rs17855102 - SPMIP4 Q8N865 VAR_060609 p.Asn518Asp LB/B rs17857512 - SPMIP5 Q8WW14 VAR_050854 p.Thr124Met LB/B rs11551267 - SPMIP6 Q8NCR6 VAR_034626 p.Pro233Gln LB/B rs17852663 - SPMIP8 Q6URK8 VAR_060223 p.Ser205Asn LB/B rs9934227 - SPMIP9 Q96LM6 VAR_035142 p.Asp24Asn LB/B rs35750657 - SPN P16150 VAR_051091 p.Thr22Ile LB/B rs2229653 - SPN P16150 VAR_051092 p.Thr93Ala LB/B rs2229654 - SPNS1 Q9H2V7 VAR_035157 p.Ala230Pro LB/B rs17855956 - SPNS3 Q6ZMD2 VAR_035158 p.Gly293Arg LB/B rs34457931 - SPNS3 Q6ZMD2 VAR_035159 p.Ala330Ser LB/B rs11655342 - SPNS3 Q6ZMD2 VAR_035968 p.Ala507Thr US rs368604785 A colorectal cancer sample SPO11 Q9Y5K1 VAR_023307 p.Thr36Ala LB/B rs28368062 - SPO11 Q9Y5K1 VAR_029246 p.Arg211Trp LB/B rs28368082 - SPO11 Q9Y5K1 VAR_052596 p.Met91Val LB/B rs3736832 - SPO11 Q9Y5K1 VAR_052597 p.Ala202Val LB/B rs17406460 - SPOCD1 Q6ZMY3 VAR_035660 p.Arg671Trp US rs1165078436 A breast cancer sample SPOCD1 Q6ZMY3 VAR_051379 p.Thr109Ala LB/B rs6664445 - SPOCD1 Q6ZMY3 VAR_051380 p.Arg436Trp LB/B rs6669563 - SPOCK2 Q92563 VAR_022020 p.Gly353Ser LB/B rs2306322 - SPOCK3 Q9BQ16 VAR_051562 p.Ile112Val LB/B rs9685645 - SPON2 Q9BUD6 VAR_019701 p.Leu40Pro LB/B rs922697 - SPON2 Q9BUD6 VAR_019702 p.Ala122Glu LB/B rs11247975 - SPON2 Q9BUD6 VAR_019703 p.Val242Leu LB/B rs2279279 - SPON2 Q9BUD6 VAR_055149 p.Arg38Gly LB/B rs6836335 - SPOP O43791 VAR_083851 p.Thr25Ala LP/P - Nabais Sa-de Vries syndrome 2 (NSDVS2) [MIM:618829] SPOP O43791 VAR_083852 p.Tyr83Cys LP/P - Nabais Sa-de Vries syndrome 2 (NSDVS2) [MIM:618829] SPOP O43791 VAR_083853 p.Arg121Gln LP/P - Nabais Sa-de Vries syndrome 1 (NSDVS1) [MIM:618828] SPOP O43791 VAR_083854 p.Gly132Val LP/P - Nabais Sa-de Vries syndrome 2 (NSDVS2) [MIM:618829] SPOP O43791 VAR_083855 p.Arg138Cys LP/P - Nabais Sa-de Vries syndrome 2 (NSDVS2) [MIM:618829] SPOP O43791 VAR_083856 p.Asp144Asn LP/P - Nabais Sa-de Vries syndrome 1 (NSDVS1) [MIM:618828] SPOPL Q6IQ16 VAR_053719 p.Arg45Gln LB/B rs36099753 - SPOUT1 Q5T280 VAR_026552 p.Thr130Arg LB/B rs6478854 - SPOUT1 Q5T280 VAR_026553 p.Ile369Thr LB/B rs2280843 - SPOUT1 Q5T280 VAR_050844 p.Ala63Val LB/B rs34500948 - SPP1 P10451 VAR_014717 p.Arg301His LB/B rs4660 - SPP1 P10451 VAR_050432 p.Ser224Asn LB/B rs7435825 - SPP2 Q13103 VAR_025698 p.Ser38Phe LB/B rs34347825 - SPPL2A Q8TCT8 VAR_051790 p.Val90Ile LB/B rs8034443 - SPPL2B Q8TCT7 VAR_059780 p.Ser574Pro LB/B rs10402284 - SPPL2C Q8IUH8 VAR_038048 p.Arg123Gln LB/B rs17763658 - SPPL2C Q8IUH8 VAR_038049 p.Arg303His LB/B rs242944 - SPPL2C Q8IUH8 VAR_038050 p.Arg461Pro LB/B rs12185233 - SPPL2C Q8IUH8 VAR_038051 p.Ile471Val LB/B rs12185268 - SPPL2C Q8IUH8 VAR_038052 p.Ser601Pro LB/B rs12373123 - SPPL2C Q8IUH8 VAR_038053 p.Gly620Arg LB/B rs12373139 - SPPL2C Q8IUH8 VAR_038054 p.Pro643Arg LB/B rs12373142 - SPPL2C Q8IUH8 VAR_057147 p.Thr659Ile LB/B rs16940694 - SPPL2C Q8IUH8 VAR_060590 p.Met626Val LB/B rs17852270 - SPR P35270 VAR_058007 p.Arg150Gly LP/P rs104893665 Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716] SPR P35270 VAR_058008 p.Pro163Leu LP/P rs104893666 Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716] SPRED1 Q7Z699 VAR_064827 p.Trp31Cys LP/P - Legius syndrome (LGSS) [MIM:611431] SPRED1 Q7Z699 VAR_064828 p.Val44Asp LP/P rs121434318 Legius syndrome (LGSS) [MIM:611431] SPRED2 Q7Z698 VAR_086930 p.Leu100Pro LP/P - Noonan syndrome 14 (NS14) [MIM:619745] SPRING1 Q9H741 VAR_033154 p.Gln55Arg LB/B rs10507274 - SPRN Q5BIV9 VAR_039152 p.Thr7Met LB/B rs2492666 - SPRR1A P35321 VAR_021097 p.His42Gln LB/B rs1611762 - SPRR1A P35321 VAR_021098 p.Val61Ile LB/B rs1611764 - SPRR1B P22528 VAR_002164 p.Gln23His LB/B - - SPRR1B P22528 VAR_002165 p.Val61Leu LB/B rs768218193 - SPRR1B P22528 VAR_002166 p.Ala80Pro LB/B - - SPRR1B P22528 VAR_021099 p.Thr11Ile LB/B rs3795382 - SPRR2B P35325 VAR_034518 p.Pro39Ser LB/B rs1404957316 - SPRR2D P22532 VAR_053049 p.Thr20Ala LB/B rs1846857 - SPRR3 Q9UBC9 VAR_023377 p.Leu149Val LB/B rs1055935 - SPRR3 Q9UBC9 VAR_053048 p.Thr156Met LB/B rs2075740 - SPRR4 Q96PI1 VAR_034517 p.Pro45Ser LB/B rs16834786 - SPRTN Q9H040 VAR_037556 p.Pro296Leu LB/B rs2437150 - SPRTN Q9H040 VAR_072708 p.Tyr117Cys LP/P rs527236213 Ruijs-Aalfs syndrome (RJALS) [MIM:616200] SPRY2 O43597 VAR_024647 p.Pro106Ser LB/B rs504122 - SPRY2 O43597 VAR_076288 p.Arg119Trp LP/P rs869025336 IgA nephropathy 3 (IGAN3) [MIM:616818] SPRY3 O43610 VAR_034519 p.Ala161Thr LB/B rs35474915 - SPRY4 Q9C004 VAR_069929 p.Thr77Met LP/P rs774674946 Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] SPRY4 Q9C004 VAR_069930 p.Asp82Asn LP/P rs568363732 Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] SPRY4 Q9C004 VAR_069931 p.Lys154Arg LP/P rs78310959 Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] SPRY4 Q9C004 VAR_069932 p.Cys186Tyr LP/P rs148983803 Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] SPRY4 Q9C004 VAR_069933 p.Ser218Tyr LP/P rs139512218 Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] SPRY4 Q9C004 VAR_069934 p.Val258Met LP/P rs200364529 Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] SPRY4 Q9C004 VAR_069935 p.Val281Ile LP/P rs142439525 Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] SPRYD4 Q8WW59 VAR_051381 p.Thr50Met LB/B rs2657881 - SPSB3 Q6PJ21 VAR_052034 p.Ser171Leu LB/B rs35816944 - SPTA1 P02549 VAR_001324 p.Ile24Ser LP/P - Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001325 p.Arg28His LP/P rs121918641 Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001326 p.Arg28Leu LP/P rs121918641 Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001327 p.Arg28Ser LP/P rs121918642 Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001328 p.Arg28Cys LP/P rs121918642 Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001329 p.Val31Ala LP/P rs773826036 Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001330 p.Arg34Trp LP/P rs201568233 Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001331 p.Arg41Trp LP/P rs121918640 Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001332 p.Arg45Ser LP/P rs121918637 Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001333 p.Arg45Thr LP/P - Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001334 p.Gly46Val LP/P rs121918638 Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001335 p.Lys48Arg LP/P rs121918644 Hereditary pyropoikilocytosis (HPP) [MIM:266140] SPTA1 P02549 VAR_001336 p.Leu49Phe LP/P rs121918639 Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001337 p.Gly151Asp LP/P rs199725919 Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001339 p.Leu207Pro LP/P rs121918643 Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001339 p.Leu207Pro LP/P rs121918643 Hereditary pyropoikilocytosis (HPP) [MIM:266140] SPTA1 P02549 VAR_001340 p.Leu260Pro LP/P rs121918634 Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001341 p.Ser261Pro LP/P rs121918636 Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001342 p.His469Pro LP/P - Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001344 p.Gln471Pro LP/P rs121918635 Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001345 p.Arg701His LB/B rs12090314 - SPTA1 P02549 VAR_001346 p.Asp791Glu LP/P rs7418956 Elliptocytosis 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001347 p.Ile809Val LB/B rs7547313 - SPTA1 P02549 VAR_001348 p.Thr853Arg LB/B rs35121052 - SPTA1 P02549 VAR_001349 p.Ala970Asp LB/B rs35948326 - SPTA1 P02549 VAR_001350 p.Leu1858Val LB/B rs3737515 - SPTA1 P02549 VAR_001351 p.Ala2025Gly US - - SPTA1 P02549 VAR_038506 p.Ser109Phe LB/B rs3737521 - SPTA1 P02549 VAR_038507 p.Asp152Asn LB/B rs16840544 - SPTA1 P02549 VAR_038508 p.Ala766Thr LB/B rs11265047 - SPTA1 P02549 VAR_038509 p.Ala957Val LB/B rs34706737 - SPTA1 P02549 VAR_038510 p.Ser1163Ala LB/B rs2482965 - SPTA1 P02549 VAR_038511 p.Arg1330Ile LB/B rs34214405 - SPTA1 P02549 VAR_038512 p.Cys1568Arg LB/B rs863931 - SPTA1 P02549 VAR_059199 p.Lys1693Gln LB/B rs857725 - SPTA1 P02549 VAR_059200 p.Asn1836Ser LB/B rs16830483 - SPTA1 P02549 VAR_059201 p.Ile2265Thr LB/B rs952094 - SPTAN1 Q13813 VAR_012227 p.Ile1300Thr LB/B rs1048236 - SPTAN1 Q13813 VAR_035454 p.Ser904Cys US - A breast cancer sample SPTAN1 Q13813 VAR_035455 p.Pro1017Ser US - A breast cancer sample SPTAN1 Q13813 VAR_035456 p.Arg1794Trp US - A breast cancer sample SPTAN1 Q13813 VAR_035457 p.Asp1918Asn US - A breast cancer sample SPTAN1 Q13813 VAR_038513 p.Asn385Ser LB/B rs2227863 - SPTB P11277 VAR_001352 p.Trp202Arg LP/P rs121918646 Spherocytosis 2 (SPH2) [MIM:616649] SPTB P11277 VAR_001353 p.Ser439Asn LB/B rs229587 - SPTB P11277 VAR_001354 p.Asn1151Asp LB/B rs77806 - SPTB P11277 VAR_001355 p.His1374Arg LB/B rs10132778 - SPTB P11277 VAR_001356 p.Arg1403Gln LB/B rs17180350 - SPTB P11277 VAR_001357 p.Ala2018Gly LP/P rs121918647 Elliptocytosis 3 (EL3) [MIM:617948] SPTB P11277 VAR_001358 p.Ser2019Pro LP/P rs121918648 Elliptocytosis 3 (EL3) [MIM:617948] SPTB P11277 VAR_001359 p.Ala2023Val LP/P rs367841692 Elliptocytosis 3 (EL3) [MIM:617948] SPTB P11277 VAR_001360 p.Trp2024Arg LP/P rs1225539653 Elliptocytosis 3 (EL3) [MIM:617948] SPTB P11277 VAR_001361 p.Leu2025Arg LP/P rs121918649 Elliptocytosis 3 (EL3) [MIM:617948] SPTB P11277 VAR_001362 p.Ala2053Pro LP/P rs121918645 Elliptocytosis 3 (EL3) [MIM:617948] SPTB P11277 VAR_038514 p.Ser613Ile LB/B rs3742601 - SPTB P11277 VAR_038515 p.Gly1408Arg LB/B rs17245552 - SPTB P11277 VAR_061084 p.Glu525Lys LB/B rs55752508 - SPTBN1 Q01082 VAR_032641 p.Asp1411His LB/B rs1052790 - SPTBN1 Q01082 VAR_086305 p.Thr59Ile LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086307 p.Gly205Asp LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086308 p.Gly205Ser LP/P rs1572690133 Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086309 p.Leu247His LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086310 p.Leu250Arg LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086311 p.Asp255Glu LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086312 p.Thr268Ala LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086313 p.Thr268Asn LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086314 p.Thr268Ser LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086315 p.Val271Met LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086316 p.His275Arg LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086317 p.Phe344Leu US - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086318 p.Arg411Gln LP/P rs1424773337 Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086319 p.Arg411Trp LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086320 p.Glu491Gln LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086321 p.Ala850Gly LP/P rs1029360897 Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086323 p.Arg1003Trp LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086324 p.Ala1086Thr LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086325 p.Glu1110Asp LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086326 p.Gly1398Ser US rs754643448 Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086327 p.Ser1674Pro LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1 Q01082 VAR_086329 p.Glu1886Gln LP/P - Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN2 O15020 VAR_026767 p.Leu253Pro LP/P rs121918306 Spinocerebellar ataxia 5 (SCA5) [MIM:600224] SPTBN2 O15020 VAR_026770 p.Ser825Gly LB/B rs4930388 - SPTBN2 O15020 VAR_026771 p.Val1034Ala LB/B rs506028 - SPTBN2 O15020 VAR_035458 p.Glu774Lys US - A colorectal cancer sample SPTBN2 O15020 VAR_048631 p.Glu835Lys LB/B rs36054877 - SPTBN2 O15020 VAR_070232 p.Arg480Trp LP/P rs397514749 Spinocerebellar ataxia 5 (SCA5) [MIM:600224] SPTBN4 Q9H254 VAR_048632 p.Gly1331Ser LB/B rs814501 - SPTBN5 Q9NRC6 VAR_022050 p.Arg1345His LB/B rs2290559 - SPTBN5 Q9NRC6 VAR_024395 p.Arg1367Thr LB/B rs2290558 - SPTBN5 Q9NRC6 VAR_024396 p.Gln2862Arg LB/B rs1456235 - SPTBN5 Q9NRC6 VAR_024397 p.Ala3275Gly LB/B rs1197660 - SPTLC1 O15269 VAR_011392 p.Cys133Trp LP/P rs119482082 Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400] SPTLC1 O15269 VAR_011393 p.Cys133Tyr LP/P rs119482081 Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400] SPTLC1 O15269 VAR_011394 p.Val144Asp LP/P rs119482083 Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400] SPTLC1 O15269 VAR_036610 p.Arg239Trp US rs542876370 A breast cancer sample SPTLC1 O15269 VAR_037889 p.Arg151Leu LB/B rs45461899 - SPTLC1 O15269 VAR_037890 p.Gly387Ala LB/B rs119482084 - SPTLC1 O15269 VAR_066245 p.Ser331Phe LP/P rs267607087 Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400] SPTLC1 O15269 VAR_066246 p.Ala352Val LP/P rs267607088 Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400] SPTLC1 O15269 VAR_068476 p.Ala310Gly US rs768841574 - SPTLC1 O15269 VAR_073294 p.Ser331Tyr LP/P rs267607087 Amyotrophic lateral sclerosis 27, juvenile (ALS27) [MIM:620285] SPTLC1 O15269 VAR_073294 p.Ser331Tyr LP/P rs267607087 Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400] SPTLC1 O15269 VAR_088446 p.Ala20Ser LP/P rs879254294 Amyotrophic lateral sclerosis 27, juvenile (ALS27) [MIM:620285] SPTLC1 O15269 VAR_088447 p.Tyr23Phe LP/P rs1554716504 Amyotrophic lateral sclerosis 27, juvenile (ALS27) [MIM:620285] SPTLC1 O15269 VAR_088448 p.Leu38Arg US - Amyotrophic lateral sclerosis 27, juvenile (ALS27) [MIM:620285] SPTLC2 O15270 VAR_064798 p.Val359Met LP/P rs267607090 Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640] SPTLC2 O15270 VAR_064799 p.Gly382Val LP/P rs267607089 Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640] SPTLC2 O15270 VAR_064800 p.Ile504Phe LP/P rs267607091 Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640] SPTLC2 O15270 VAR_069525 p.Ala182Pro LP/P rs864621998 Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640] SPTLC2 O15270 VAR_081286 p.Arg183Trp LP/P rs775437084 Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640] SPTLC3 Q9NUV7 VAR_048230 p.Leu140Val LB/B rs243887 - SPTSSA Q969W0 VAR_088800 p.Thr51Ile LP/P - Spastic paraplegia 90A, autosomal dominant (SPG90A) [MIM:620416] SPTY2D1 Q68D10 VAR_038298 p.Ser317Phe LB/B rs12795406 - SPTY2D1 Q68D10 VAR_038299 p.Arg447Gln LB/B rs16935599 - SPTY2D1 Q68D10 VAR_038300 p.Lys617Arg LB/B rs35411689 - SPZ1 Q9BXG8 VAR_031160 p.Val17Leu LB/B rs1862136 - SPZ1 Q9BXG8 VAR_031161 p.Glu302Lys LB/B rs6867419 - SQOR Q9Y6N5 VAR_014959 p.Ile264Thr LB/B rs1044032 - SQOR Q9Y6N5 VAR_085241 p.Glu213Lys LP/P - Sulfide:quinone oxidoreductase deficiency (SQORD) [MIM:619221] SQSTM1 Q13501 VAR_023590 p.Ala117Val LB/B rs147810437 - SQSTM1 Q13501 VAR_023591 p.Glu274Gln LB/B - - SQSTM1 Q13501 VAR_023592 p.Pro387Leu LP/P rs776749939 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_023592 p.Pro387Leu LP/P rs776749939 Paget disease of bone 3 (PDB3) [MIM:167250] SQSTM1 Q13501 VAR_023593 p.Pro392Leu LP/P rs104893941 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_023593 p.Pro392Leu LP/P rs104893941 Paget disease of bone 3 (PDB3) [MIM:167250] SQSTM1 Q13501 VAR_023594 p.Ser399Pro LP/P rs1561609625 Paget disease of bone 3 (PDB3) [MIM:167250] SQSTM1 Q13501 VAR_023595 p.Met404Thr LP/P rs1247551175 Paget disease of bone 3 (PDB3) [MIM:167250] SQSTM1 Q13501 VAR_023596 p.Met404Val LP/P rs771966860 Paget disease of bone 3 (PDB3) [MIM:167250] SQSTM1 Q13501 VAR_023597 p.Gly411Ser LP/P rs143511494 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_023597 p.Gly411Ser LP/P rs143511494 Paget disease of bone 3 (PDB3) [MIM:167250] SQSTM1 Q13501 VAR_023598 p.Gly425Arg LP/P rs757212984 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_023598 p.Gly425Arg LP/P rs757212984 Paget disease of bone 3 (PDB3) [MIM:167250] SQSTM1 Q13501 VAR_061707 p.Glu274Asp LB/B rs55793208 - SQSTM1 Q13501 VAR_068915 p.Lys238Glu LB/B rs11548633 - SQSTM1 Q13501 VAR_073899 p.Ala16Val LP/P rs1554162295 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073900 p.Ala17Val LB/B rs141502868 - SQSTM1 Q13501 VAR_073901 p.Ala33Val LP/P rs200396166 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073902 p.Asp80Glu LP/P rs148366738 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073903 p.Val90Met LP/P rs181263868 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073904 p.Lys103Arg LB/B rs748170760 - SQSTM1 Q13501 VAR_073905 p.Arg107Gln LB/B - - SQSTM1 Q13501 VAR_073906 p.Arg107Trp LP/P rs771903158 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073907 p.Asp108Tyr LB/B - - SQSTM1 Q13501 VAR_073908 p.Arg110His LB/B rs1267306593 - SQSTM1 Q13501 VAR_073909 p.Pro118Ser LB/B rs200152247 - SQSTM1 Q13501 VAR_073910 p.Arg119Gly LB/B rs548787835 - SQSTM1 Q13501 VAR_073911 p.Asn125Ser LB/B rs769325755 - SQSTM1 Q13501 VAR_073912 p.Asp129Asn LP/P rs753212399 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073913 p.Arg139Cys LB/B rs750256905 - SQSTM1 Q13501 VAR_073914 p.Val153Ile LP/P rs145056421 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073915 p.Ser180Leu LB/B rs1582008478 - SQSTM1 Q13501 VAR_073916 p.Arg212Cys LP/P rs201263163 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073917 p.Arg217His LB/B rs761822261 - SQSTM1 Q13501 VAR_073918 p.Gly219Val LP/P - Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073919 p.Ser226Pro LP/P rs765200636 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073920 p.Pro228Leu LP/P rs151191977 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073921 p.Pro232Thr LP/P rs1225746517 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073923 p.Asp258Asn LP/P rs774986849 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073925 p.Thr278Ile LB/B rs200445838 - SQSTM1 Q13501 VAR_073926 p.Ala308Val LB/B rs541356917 - SQSTM1 Q13501 VAR_073927 p.Ser318Pro LP/P - Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073928 p.Glu319Lys LB/B rs61748794 - SQSTM1 Q13501 VAR_073929 p.Arg321Cys LP/P rs140226523 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073930 p.Asp329Gly LP/P rs148294622 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073932 p.Pro348Leu LP/P rs772889843 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073933 p.Ser349Thr LB/B rs774512680 - SQSTM1 Q13501 VAR_073934 p.Ser370Pro LP/P rs143956614 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073935 p.Ala381Val LP/P rs772122047 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073936 p.Thr430Pro LP/P rs770118706 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1 Q13501 VAR_073937 p.Pro439Leu LB/B rs199854262 - SRA1 Q9HD15 VAR_052060 p.Gln20Glu LB/B rs35610885 - SRARP Q8NEQ6 VAR_033654 p.Leu112Phe LB/B rs34950166 - SRARP Q8NEQ6 VAR_035491 p.Gly52Trp US - A breast cancer sample SRARP Q8NEQ6 VAR_035492 p.Gly100Trp US - A breast cancer sample SRBD1 Q8N5C6 VAR_056995 p.Thr361Met LB/B rs6544834 - SRBD1 Q8N5C6 VAR_056996 p.Val798Phe LB/B rs3755073 - SRBD1 Q8N5C6 VAR_056997 p.Lys811Arg LB/B rs3755072 - SRC P12931 VAR_041830 p.Ala237Thr LB/B rs34881773 - SRC P12931 VAR_051699 p.Leu176Phe LB/B rs6018260 - SRC P12931 VAR_076919 p.Glu527Lys LP/P rs879255268 Thrombocytopenia 6 (THC6) [MIM:616937] SRD5A2 P31213 VAR_005609 p.Arg246Trp LP/P rs121434244 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013104 p.Ala49Thr LB/B rs9282858 - SRD5A2 P31213 VAR_013105 p.Leu55Gln LP/P rs121434245 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013106 p.Gly115Asp LP/P rs121434246 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013108 p.Gly183Ser LP/P rs121434247 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013109 p.Gly196Ser LP/P rs121434250 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013110 p.Glu197Asp LP/P rs121434253 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013111 p.Pro212Arg LP/P rs121434252 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013112 p.Ala228Thr LP/P rs121434249 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013113 p.His231Arg LP/P rs121434251 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013130 p.Gly85Asp LP/P rs1351269392 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013131 p.Leu89Val LB/B rs523349 - SRD5A2 P31213 VAR_013132 p.Glu200Lys LP/P rs756853742 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013133 p.Ser245Tyr LP/P rs145712014 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013134 p.Arg246Gln LP/P rs9332967 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_022302 p.Leu113Val LB/B rs28383048 - SRD5A2 P31213 VAR_025851 p.Arg145Trp LP/P rs759561106 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_025852 p.Pro181Leu LP/P rs1057517829 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_025853 p.Tyr235Phe LP/P rs772283403 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_025854 p.Gly123Arg LP/P rs1331249320 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_025855 p.Gln126Arg LP/P rs368386747 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_025856 p.Gly158Arg LP/P - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_025857 p.Ala207Asp LP/P rs767564684 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_037585 p.Leu224Met LB/B rs9332963 - SRD5A2 P31213 VAR_037586 p.Arg227Gln LP/P rs9332964 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_059791 p.Gly203Ser LB/B rs9332961 - SRD5A2 P31213 VAR_059792 p.Leu224His LB/B rs9332963 - SRD5A2 P31213 VAR_077546 p.Cys5Arg LB/B rs61748120 - SRD5A2 P31213 VAR_077547 p.Pro30Leu US - - SRD5A2 P31213 VAR_077548 p.Pro48Arg LB/B rs61748122 - SRD5A2 P31213 VAR_077549 p.Ala51Thr LB/B rs61748123 - SRD5A2 P31213 VAR_077550 p.Thr187Met LB/B rs61748125 - SRD5A2 P31213 VAR_077551 p.Phe194Leu LB/B rs61748126 - SRD5A2 P31213 VAR_077552 p.Phe234Leu LB/B rs9332966 - SRD5A2 P31213 VAR_087981 p.Gly34Arg US rs782032018 - SREBF1 P36956 VAR_038468 p.Asn306Ser LB/B rs17855793 - SREBF1 P36956 VAR_038469 p.Ala309Thr LB/B rs35188700 - SREBF1 P36956 VAR_038470 p.Val417Met LB/B rs2229590 - SREBF1 P36956 VAR_038471 p.Val580Met LB/B rs36215896 - SREBF1 P36956 VAR_038472 p.Arg746His LB/B rs2228461 - SREBF1 P36956 VAR_038473 p.Ser834Leu LB/B rs17855792 - SREBF1 P36956 VAR_038474 p.Thr1000Ala LB/B rs1042017 - SREBF1 P36956 VAR_038475 p.Ala1008Pro LB/B rs35014224 - SREBF1 P36956 VAR_085079 p.Arg527Cys LP/P rs2033690347 IFAP syndrome 2 (IFAP2) [MIM:619016] SREBF1 P36956 VAR_085079 p.Arg527Cys LP/P rs2033690347 Mucoepithelial dysplasia, hereditary (HMD) [MIM:158310] SREBF1 P36956 VAR_085080 p.Arg527His LP/P rs1428621525 Mucoepithelial dysplasia, hereditary (HMD) [MIM:158310] SREBF1 P36956 VAR_085082 p.Leu530Pro LP/P rs2033688284 IFAP syndrome 2 (IFAP2) [MIM:619016] SREBF2 Q12772 VAR_028440 p.Gly595Ala LB/B rs2228314 - SREBF2 Q12772 VAR_028441 p.Val623Met LB/B rs2229440 - SREBF2 Q12772 VAR_036394 p.Ala273Ser US - A breast cancer sample SREBF2 Q12772 VAR_036395 p.Asn347Lys US - A breast cancer sample SREBF2 Q12772 VAR_049550 p.Met536Leu LB/B rs17002714 - SREBF2 Q12772 VAR_049551 p.Arg860Ser LB/B rs2228313 - SRGAP1 Q7Z6B7 VAR_075879 p.Gln149His LP/P rs781626187 Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] SRGAP1 Q7Z6B7 VAR_075880 p.Ala275Thr LP/P rs797044990 Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] SRGAP1 Q7Z6B7 VAR_075881 p.Val512Ile LB/B rs74691643 - SRGAP1 Q7Z6B7 VAR_075882 p.Arg617Cys LP/P rs114817817 Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] SRGAP1 Q7Z6B7 VAR_075883 p.His875Arg LP/P rs61754221 Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] SRGAP2 O75044 VAR_055834 p.Arg874Gly LB/B rs17018890 - SRGAP3 O43295 VAR_035550 p.Leu623Ile US - A breast cancer sample SRGAP3 O43295 VAR_049159 p.Ile628Val LB/B rs2271207 - SRGN P10124 VAR_032761 p.Arg31Gln LB/B rs2229498 - SRM P19623 VAR_011807 p.Leu149Val LB/B rs1049932 - SRMS Q9H3Y6 VAR_041831 p.Arg73Cys LB/B rs56053583 - SRMS Q9H3Y6 VAR_041832 p.Gly75Arg LB/B rs55863722 - SRMS Q9H3Y6 VAR_041833 p.Ile88Val LB/B rs35558836 - SRMS Q9H3Y6 VAR_041834 p.Val301Leu LB/B rs310657 - SRMS Q9H3Y6 VAR_041835 p.Asp377Glu LB/B rs55838540 - SRMS Q9H3Y6 VAR_041836 p.Ala397Val LB/B rs6011889 - SRMS Q9H3Y6 VAR_041837 p.Pro452Leu LB/B rs8120713 - SRMS Q9H3Y6 VAR_041838 p.Ala453Thr LB/B rs310655 - SRMS Q9H3Y6 VAR_041839 p.Val457Leu LB/B rs310654 - SRMS Q9H3Y6 VAR_041840 p.Ser465Thr LB/B rs33933649 - SRMS Q9H3Y6 VAR_051700 p.Pro218Leu LB/B rs378483 - SRMS Q9H3Y6 VAR_051701 p.Val255Met LB/B rs34969822 - SRMS Q9H3Y6 VAR_051702 p.Pro325Leu LB/B rs8122355 - SRP14 P37108 VAR_028057 p.Pro51Ser LB/B rs1802601 - SRP14 P37108 VAR_028058 p.Ser68Ile LB/B rs1802600 - SRP14 P37108 VAR_028059 p.Pro124Ala LB/B rs7535 - SRP14 P37108 VAR_028060 p.Thr125Ala LB/B rs200831083 - SRP14 P37108 VAR_028061 p.Ala127Thr LB/B rs16924521 - SRP14 P37108 VAR_028062 p.Thr130Ala LB/B rs4814 - SRP19 P09132 VAR_027800 p.Ala4Thr LB/B rs17855423 - SRP54 P61011 VAR_083566 p.Gly113Arg LP/P - Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752] SRP54 P61011 VAR_083567 p.Thr115Ala LP/P - Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752] SRP54 P61011 VAR_083569 p.Cys118Tyr LP/P - Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752] SRP54 P61011 VAR_083570 p.Cys136Tyr LP/P - Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752] SRP54 P61011 VAR_083571 p.Ala223Asp LP/P - Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752] SRP54 P61011 VAR_083572 p.Gly226Glu LP/P - Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752] SRP54 P61011 VAR_083573 p.Gly274Asp LP/P - Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752] SRP72 O76094 VAR_068522 p.Arg207His LP/P rs387907189 Bone marrow failure syndrome 1 (BMFS1) [MIM:614675] SRPK1 Q96SB4 VAR_051669 p.Ile72Thr LB/B rs35519113 - SRPK2 P78362 VAR_041114 p.Pro43Leu LB/B rs34699980 - SRPK2 P78362 VAR_041115 p.Gly243Asp US - A glioblastoma multiforme sample SRPK2 P78362 VAR_041116 p.Thr426Pro LB/B rs55743527 - SRPK2 P78362 VAR_041117 p.Ser486Phe LB/B rs56112661 - SRPK2 P78362 VAR_041118 p.Pro515Thr LB/B rs56017595 - SRPK2 P78362 VAR_057111 p.Leu615Ile LB/B rs1050418 - SRPK2 P78362 VAR_060390 p.Ser608Asn LB/B rs1050413 - SRPK3 Q9UPE1 VAR_041119 p.Arg101Cys LB/B rs55910507 - SRPK3 Q9UPE1 VAR_041120 p.Gly114Glu LB/B rs35865042 - SRPK3 Q9UPE1 VAR_041121 p.Glu233Lys LB/B rs34497419 - SRPRB Q9Y5M8 VAR_057335 p.Val9Leu LB/B rs1107413 - SRPX P78539 VAR_005625 p.Pro225Ser LB/B rs1123773 - SRPX P78539 VAR_005626 p.Ser413Phe LB/B rs35318931 - SRPX2 O60687 VAR_030312 p.Tyr72Ser US rs121918364 Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked (RESDX) [MIM:300643] SRPX2 O60687 VAR_030313 p.Thr287Ser LB/B rs17851822 - SRPX2 O60687 VAR_030314 p.Asn327Ser US rs121918363 Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked (RESDX) [MIM:300643] SRRD Q9UH36 VAR_052064 p.Ala99Thr LB/B rs4820682 - SRRM1 Q8IYB3 VAR_024065 p.Arg170His LB/B rs17857102 - SRRM2 Q9UQ35 VAR_027259 p.Pro804Thr LB/B rs2240140 - SRRM2 Q9UQ35 VAR_027260 p.Ser883Cys LB/B rs17136053 - SRRM2 Q9UQ35 VAR_048868 p.Thr856Arg LB/B rs12185191 - SRRM4 A7MD48 VAR_037339 p.Ser243Asn LB/B rs7297606 - SRRM4 A7MD48 VAR_037340 p.Arg406Gln LB/B rs2723880 - SRRM4 A7MD48 VAR_037341 p.Arg547Ser LB/B rs2555273 - SRSF1 Q07955 VAR_035488 p.Pro89Ser US - A breast cancer sample SRSF4 Q08170 VAR_052230 p.Glu253Asp LB/B rs2230679 - SRSF4 Q08170 VAR_052231 p.Gly338Ala LB/B rs2230677 - SRSF4 Q08170 VAR_052232 p.Gly356Ser LB/B rs2230678 - SRSF4 Q08170 VAR_052233 p.Gln438Glu LB/B rs1049928 - SRSF5 Q13243 VAR_014713 p.Ala160Ser LB/B rs1057683 - SRSF6 Q13247 VAR_035489 p.Arg145Gln US - A colorectal cancer sample SRY Q05066 VAR_003717 p.Ser18Asn LP/P rs104894971 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003718 p.Val60Ala LP/P rs764249635 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003719 p.Val60Leu LP/P rs104894957 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003720 p.Arg62Gly LP/P - 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003721 p.Met64Ile LP/P rs104894969 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003722 p.Ile68Thr LP/P rs104894968 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003723 p.Met78Thr LP/P - 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003724 p.Ile90Met LP/P rs104894959 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003725 p.Ser91Gly LP/P - 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003726 p.Gly95Arg LP/P rs104894974 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003727 p.Leu101His LP/P - 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003728 p.Lys106Ile LP/P rs104894964 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003729 p.Pro108Arg LP/P - 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003730 p.Phe109Ser LP/P rs104894956 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003731 p.Ala113Thr LP/P rs104894966 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003732 p.Pro125Leu LP/P - 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003733 p.Tyr127Cys LP/P rs104894973 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003734 p.Arg133Trp LP/P rs104894976 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_017298 p.Met64Arg LP/P - 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_017299 p.Phe67Val LP/P - 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_017300 p.Arg76Ser LP/P - 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_017301 p.Asn87Tyr LP/P - 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_017302 p.Gly95Glu LP/P rs104894972 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_017303 p.Tyr127Phe LP/P rs104894973 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_017304 p.Pro131Arg LP/P - 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_030019 p.Ser3Leu LP/P - 46,XY sex reversal 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_078433 p.Arg75Met LP/P - 46,XY sex reversal 1 (SRXY1) [MIM:400044] SS18L1 O75177 VAR_053691 p.Ala321Thr LB/B rs36106901 - SS18L1 O75177 VAR_062534 p.Met189Ile LB/B rs17853304 - SSBP1 Q04837 VAR_084732 p.Arg38Gln LP/P - Optic atrophy 13 with retinal and foveal abnormalities (OPA13) [MIM:165510] SSBP1 Q04837 VAR_084733 p.Gly40Val LP/P - Optic atrophy 13 with retinal and foveal abnormalities (OPA13) [MIM:165510] SSBP1 Q04837 VAR_084734 p.Asn62Asp LP/P - Optic atrophy 13 with retinal and foveal abnormalities (OPA13) [MIM:165510] SSBP1 Q04837 VAR_084735 p.Arg107Gln LP/P - Optic atrophy 13 with retinal and foveal abnormalities (OPA13) [MIM:165510] SSBP1 Q04837 VAR_084736 p.Glu111Gln LP/P - Optic atrophy 13 with retinal and foveal abnormalities (OPA13) [MIM:165510] SSBP1 Q04837 VAR_084737 p.Ile132Val US rs777794675 - SSBP1 Q04837 VAR_084738 p.Ser141Asn LP/P - Optic atrophy 13 with retinal and foveal abnormalities (OPA13) [MIM:165510] SSC4D Q8WTU2 VAR_052063 p.Arg128His LB/B rs4728712 - SSH2 Q76I76 VAR_051758 p.Ser743Leu LB/B rs2289629 - SSH2 Q76I76 VAR_051759 p.Val763Ala LB/B rs6505140 - SSH2 Q76I76 VAR_051760 p.His1300Gln LB/B rs8080046 - SSH3 Q8TE77 VAR_057132 p.Glu239Val LB/B rs7114712 - SSH3 Q8TE77 VAR_057133 p.Arg600His LB/B rs1573536 - SSMEM1 Q8WWF3 VAR_029873 p.Arg88Trp LB/B rs4728190 - SSNA1 O43805 VAR_036343 p.Lys17Asn US rs1289962028 A breast cancer sample SSPN Q14714 VAR_051384 p.Ser186Asn LB/B rs12313670 - SSPN Q14714 VAR_051385 p.Val228Ile LB/B rs12313736 - SSPOP A2VEC9 VAR_052660 p.Gln146Arg LB/B rs709061 - SSPOP A2VEC9 VAR_052661 p.Val298Met LB/B rs17754559 - SSPOP A2VEC9 VAR_052662 p.Leu1274Pro LB/B rs709060 - SSPOP A2VEC9 VAR_059863 p.Val540Met LB/B rs855677 - SSPOP A2VEC9 VAR_059864 p.Ser1273Pro LB/B rs709060 - SSPOP A2VEC9 VAR_059865 p.Ser1425Gly LB/B rs855691 - SSPOP A2VEC9 VAR_059866 p.Pro1449Gln LB/B rs855692 - SSPOP A2VEC9 VAR_059867 p.Pro1454Arg LB/B rs2074704 - SSPOP A2VEC9 VAR_059868 p.Ser1779Pro LB/B rs893601 - SSPOP A2VEC9 VAR_059869 p.Leu1794Pro LB/B rs1635802 - SSPOP A2VEC9 VAR_059870 p.Arg1883Cys LB/B rs1076277 - SSPOP A2VEC9 VAR_059871 p.Thr2018Met LB/B rs4725314 - SSPOP A2VEC9 VAR_059872 p.Leu2892Val LB/B rs10260959 - SSPOP A2VEC9 VAR_059873 p.Arg3274Trp LB/B rs740109 - SSPOP A2VEC9 VAR_059874 p.Asn3513Ser LB/B rs10952230 - SSPOP A2VEC9 VAR_059875 p.Cys3894Trp LB/B rs1557955 - SSPOP A2VEC9 VAR_059876 p.Arg3911Cys LB/B rs745044 - SSPOP A2VEC9 VAR_059877 p.Ser4030Ile LB/B rs1005603 - SSPOP A2VEC9 VAR_059878 p.His4166Arg LB/B rs10233245 - SSPOP A2VEC9 VAR_059879 p.Arg4332Cys LB/B rs1008336 - SSPOP A2VEC9 VAR_059880 p.His4790Arg LB/B rs1004200 - SSPOP A2VEC9 VAR_059881 p.Glu4944Lys LB/B rs12534509 - SSPOP A2VEC9 VAR_061915 p.Met2453Thr LB/B rs2074689 - SSPOP A2VEC9 VAR_061916 p.Arg2542Gln LB/B rs59522380 - SSPOP A2VEC9 VAR_061917 p.Gln4109His LB/B rs12536873 - SSPOP A2VEC9 VAR_075709 p.Arg1002Trp US rs199648588 - SSPOP A2VEC9 VAR_075710 p.Arg2799Cys US rs181269877 - SSR1 P43307 VAR_022427 p.Leu28Ser LB/B rs10004 - SSR4 P51571 VAR_064161 p.Gly144Arg LB/B rs782018895 - SSRP1 Q08945 VAR_052495 p.Leu225Val LB/B rs768436 - SSRP1 Q08945 VAR_052496 p.Glu458Gln LB/B rs11540304 - SST P61278 VAR_034499 p.Ala11Val LB/B rs35603672 - SST P61278 VAR_034500 p.Asn61Thr LB/B rs33934967 - SSTR3 P32745 VAR_011853 p.Ser411Thr LB/B rs229568 - SSTR3 P32745 VAR_020072 p.Ser251Phe LB/B rs6413537 - SSTR3 P32745 VAR_029219 p.Ala33Val LB/B rs4988466 - SSTR3 P32745 VAR_029220 p.Arg336Cys LB/B rs4988469 - SSTR3 P32745 VAR_029221 p.Arg414His LB/B rs4988471 - SSTR3 P32745 VAR_049440 p.Pro37Leu LB/B rs34943557 - SSTR4 P31391 VAR_011703 p.Asn83Thr LB/B rs1065191 - SSTR4 P31391 VAR_021560 p.Phe284Val LB/B rs3746726 - SSTR4 P31391 VAR_021561 p.Phe321Ser LB/B rs2567608 - SSTR4 P31391 VAR_049441 p.Gly236Asp LB/B rs35601930 - SSTR5 P35346 VAR_020073 p.Pro335Leu LB/B rs169068 - SSTR5 P35346 VAR_029222 p.Gly37Arg LB/B rs4988482 - SSTR5 P35346 VAR_029223 p.Leu48Met LB/B rs4988483 - SSTR5 P35346 VAR_029224 p.Ala52Val LB/B rs4988484 - SSTR5 P35346 VAR_029225 p.Pro109Ser LB/B rs4988487 - SSTR5 P35346 VAR_029226 p.Thr333Met LB/B rs12596873 - SSTR5 P35346 VAR_033484 p.Trp105Arg LB/B rs34803074 - SSTR5 P35346 VAR_033485 p.Leu251Ser LB/B rs34474910 - SSTR5 P35346 VAR_033486 p.Arg339Lys LB/B rs35072648 - SSTR5 P35346 VAR_049442 p.Arg234Cys LB/B rs34070276 - SSTR5 P35346 VAR_049443 p.Val267Ile LB/B rs35125411 - SSTR5 P35346 VAR_049444 p.Gly357Arg LB/B rs34947461 - SSUH2 Q9Y2M2 VAR_033659 p.Pro50Leu LB/B rs2276800 - SSUH2 Q9Y2M2 VAR_078099 p.Pro140Gln LB/B rs140981580 - SSX1 Q16384 VAR_088251 p.Tyr55Cys US - Spermatogenic failure, X-linked, 5 (SPGFX5) [MIM:301099] SSX2IP Q9Y2D8 VAR_056726 p.Cys578Arg LB/B rs1057746 - SSX5 O60225 VAR_027805 p.Glu19Gln LB/B rs4824675 - SSX6P Q7RTT6 VAR_053692 p.Arg90Cys LB/B rs5952474 - SSX6P Q7RTT6 VAR_053693 p.Lys138Gln LB/B rs17327911 - SSX7 Q7RTT5 VAR_053694 p.Leu43Ser LB/B rs3122210 - SSX9P Q7RTT3 VAR_053695 p.Cys72Arg LB/B rs4598385 - SSX9P Q7RTT3 VAR_060113 p.Ser97Pro LB/B rs6609702 - ST13 P50502 VAR_011900 p.Met297Ile LB/B rs710193 - ST13P4 Q8IZP2 VAR_023644 p.Ser71Leu LB/B - - ST14 Q9Y5Y6 VAR_032847 p.Met285Ile LB/B rs7126904 - ST14 Q9Y5Y6 VAR_032848 p.Arg381Ser LB/B rs17667603 - ST14 Q9Y5Y6 VAR_032849 p.Gly827Arg LP/P rs137852931 Ichthyosis, congenital, autosomal recessive 11 (ARCI11) [MIM:602400] ST18 O60284 VAR_052732 p.Arg515Cys LB/B rs2303460 - ST20 Q9HBF5 VAR_044034 p.Pro57Leu LB/B rs7257 - ST20-AS1 Q8NBB2 VAR_050885 p.Val62Ala LB/B rs2733102 - ST3GAL1 Q11201 VAR_049225 p.Asn111Ser LB/B rs116342938 - ST3GAL3 Q11203 VAR_066594 p.Ala13Asp LP/P rs387906943 Intellectual developmental disorder, autosomal recessive 12 (MRT12) [MIM:611090] ST3GAL3 Q11203 VAR_066595 p.Asp370Tyr LP/P - Intellectual developmental disorder, autosomal recessive 12 (MRT12) [MIM:611090] ST3GAL3 Q11203 VAR_069319 p.Ala320Pro LP/P - Developmental and epileptic encephalopathy 15 (DEE15) [MIM:615006] ST3GAL5 Q9UNP4 VAR_025510 p.His104Arg LB/B rs1138484 - ST3GAL6 Q9Y274 VAR_049227 p.Ala311Thr LB/B rs28489284 - ST6GAL2 Q96JF0 VAR_038046 p.Gly154Arg LB/B rs3796110 - ST6GAL2 Q96JF0 VAR_038047 p.Ile341Val LB/B rs12615112 - ST6GALNAC1 Q9NSC7 VAR_021514 p.Val80Ala LB/B rs8077382 - ST6GALNAC1 Q9NSC7 VAR_049226 p.Ile424Val LB/B rs35948039 - ST6GALNAC1 Q9NSC7 VAR_086492 p.Thr207Pro US rs146032525 - ST6GALNAC1 Q9NSC7 VAR_086493 p.Arg341Cys US rs548273650 - ST6GALNAC1 Q9NSC7 VAR_086494 p.Arg391Gln US - - ST6GALNAC1 Q9NSC7 VAR_086495 p.Thr462Met US rs150096642 - ST6GALNAC3 Q8NDV1 VAR_055846 p.Leu223Ile LB/B rs1184626 - ST7 Q9NRC1 VAR_043932 p.Ala186Thr LB/B rs201219065 - ST7 Q9NRC1 VAR_043933 p.Ile361Val LB/B rs1362000016 - ST7L Q8TDW4 VAR_043934 p.Arg451Gln LB/B rs6658555 - ST7L Q8TDW4 VAR_043935 p.Ala455Thr LB/B rs3736764 - ST7L Q8TDW4 VAR_043936 p.Gly571Asp LB/B rs12069022 - ST8SIA3 O43173 VAR_020249 p.Lys91Thr LB/B rs3745060 - ST8SIA4 Q92187 VAR_036169 p.Glu92Gly US - A colorectal cancer sample ST8SIA4 Q92187 VAR_068976 p.Arg7Lys LB/B rs199768560 - STAB1 Q9NY15 VAR_019078 p.Met2506Thr LB/B rs13303 - STAB1 Q9NY15 VAR_055774 p.Gly1127Arg LB/B rs2286786 - STAB1 Q9NY15 VAR_055775 p.Ile2282Val LB/B rs4434138 - STAB1 Q9NY15 VAR_060338 p.Leu672Met LB/B rs12636502 - STAB1 Q9NY15 VAR_060339 p.Met912Val LB/B rs9835659 - STAB1 Q9NY15 VAR_060340 p.Ala1833Pro LB/B rs7630214 - STAB2 Q8WWQ8 VAR_019541 p.Pro510His LB/B rs1609860 - STAB2 Q8WWQ8 VAR_048995 p.Ile110Val LB/B rs17034186 - STAB2 Q8WWQ8 VAR_048996 p.Glu306Lys LB/B rs12319476 - STAB2 Q8WWQ8 VAR_048997 p.Arg787Gln LB/B rs17034336 - STAB2 Q8WWQ8 VAR_048998 p.Arg881His LB/B rs7973658 - STAB2 Q8WWQ8 VAR_048999 p.Asn1736Thr LB/B rs17034433 - STAB2 Q8WWQ8 VAR_049000 p.Pro2039Thr LB/B rs7306642 - STAB2 Q8WWQ8 VAR_049001 p.Leu2401Val LB/B rs2271637 - STAB2 Q8WWQ8 VAR_049002 p.Tyr2519Ser LB/B rs3751197 - STAC Q99469 VAR_034505 p.Asn262Ser LB/B rs7634545 - STAC3 Q96MF2 VAR_071313 p.Trp284Ser LP/P rs140291094 Congenital myopathy 13 (CMYP13) [MIM:255995] STAG1 Q8WVM7 VAR_046968 p.Gln1132His LB/B rs34149860 - STAG1 Q8WVM7 VAR_079487 p.Gln214Arg LP/P rs1553738694 Intellectual developmental disorder, autosomal dominant 47 (MRD47) [MIM:617635] STAG1 Q8WVM7 VAR_079488 p.Arg216Gly LP/P rs1553738686 Intellectual developmental disorder, autosomal dominant 47 (MRD47) [MIM:617635] STAG1 Q8WVM7 VAR_079489 p.His220Arg LP/P rs1057519153 Intellectual developmental disorder, autosomal dominant 47 (MRD47) [MIM:617635] STAG1 Q8WVM7 VAR_079490 p.Lys333Gln LP/P rs1553728634 Intellectual developmental disorder, autosomal dominant 47 (MRD47) [MIM:617635] STAG1 Q8WVM7 VAR_079491 p.Leu351Trp LP/P rs1553727865 Intellectual developmental disorder, autosomal dominant 47 (MRD47) [MIM:617635] STAG1 Q8WVM7 VAR_079492 p.Arg373Gln LP/P rs1376334317 Intellectual developmental disorder, autosomal dominant 47 (MRD47) [MIM:617635] STAG1 Q8WVM7 VAR_079493 p.His478Pro LP/P rs1553722309 Intellectual developmental disorder, autosomal dominant 47 (MRD47) [MIM:617635] STAG1 Q8WVM7 VAR_079494 p.Lys979Arg LP/P rs1471479119 Intellectual developmental disorder, autosomal dominant 47 (MRD47) [MIM:617635] STAG1 Q8WVM7 VAR_082291 p.Val85Ile US rs1559904167 - STAG1 Q8WVM7 VAR_082292 p.Arg377Cys LB/B rs1559824939 - STAG2 Q8N3U4 VAR_060114 p.Asn699Lys LB/B rs6655782 - STAG2 Q8N3U4 VAR_082295 p.Tyr159Cys LP/P - Mullegama-Klein-Martinez syndrome (MKMS) [MIM:301022] STAG2 Q8N3U4 VAR_082296 p.Ser327Asn LP/P - Mullegama-Klein-Martinez syndrome (MKMS) [MIM:301022] STAG2 Q8N3U4 VAR_082298 p.Arg604Gln US - Mullegama-Klein-Martinez syndrome (MKMS) [MIM:301022] STAG2 Q8N3U4 VAR_082300 p.Lys1009Asn LP/P - Mullegama-Klein-Martinez syndrome (MKMS) [MIM:301022] STAG3 Q9UJ98 VAR_086738 p.Arg321His LP/P - Premature ovarian failure 8 (POF8) [MIM:615723] STAG3 Q9UJ98 VAR_086738 p.Arg321His LP/P - Spermatogenic failure 61 (SPGF61) [MIM:619672] STAG3 Q9UJ98 VAR_086739 p.Leu421Arg LP/P - Spermatogenic failure 61 (SPGF61) [MIM:619672] STAG3L4 Q8TBR4 VAR_039255 p.Glu116Gln LB/B rs1045513 - STAM Q92783 VAR_036348 p.Gly212Asp US rs1554827317 A colorectal cancer sample STAMBP O95630 VAR_069806 p.Arg14Pro LP/P - Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261] STAMBP O95630 VAR_069807 p.Arg38Cys LP/P rs143739249 Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261] STAMBP O95630 VAR_069808 p.Glu42Gly LP/P rs397509387 Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261] STAMBP O95630 VAR_069809 p.Tyr63Cys LP/P rs781694797 Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261] STAMBP O95630 VAR_069810 p.Phe100Tyr LP/P rs397514697 Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261] STAMBP O95630 VAR_069811 p.Thr313Ile LP/P rs202100019 Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261] STAMBPL1 Q96FJ0 VAR_051817 p.Ser196Asn LB/B rs12254856 - STAMBPL1 Q96FJ0 VAR_051818 p.Glu204Lys LB/B rs34270879 - STAMBPL1 Q96FJ0 VAR_051819 p.Ala210Thr LB/B rs9988723 - STAP2 Q9UGK3 VAR_055239 p.Asp93Asn LB/B rs7247504 - STAR P49675 VAR_005627 p.Arg182Leu LP/P rs104894086 Adrenal hyperplasia 1 (AH1) [MIM:201710] STAR P49675 VAR_005628 p.Ala203Asp LB/B rs1042854 - STAR P49675 VAR_014236 p.Glu169Gly LP/P rs1254559989 Adrenal hyperplasia 1 (AH1) [MIM:201710] STAR P49675 VAR_014237 p.Glu169Lys LP/P rs747169620 Adrenal hyperplasia 1 (AH1) [MIM:201710] STAR P49675 VAR_014238 p.Arg217Thr LP/P rs137852689 Adrenal hyperplasia 1 (AH1) [MIM:201710] STAR P49675 VAR_014239 p.Ala218Val LP/P rs137852690 Adrenal hyperplasia 1 (AH1) [MIM:201710] STAR P49675 VAR_014240 p.Met225Thr LP/P rs1446362214 Adrenal hyperplasia 1 (AH1) [MIM:201710] STAR P49675 VAR_014242 p.Leu275Pro LP/P rs762245736 Adrenal hyperplasia 1 (AH1) [MIM:201710] STAR P49675 VAR_034520 p.Arg121Trp LB/B rs34908868 - STARD13 Q9Y3M8 VAR_022098 p.Lys250Arg LB/B rs3742321 - STARD13 Q9Y3M8 VAR_037494 p.Thr175Met LB/B rs9568878 - STARD13 Q9Y3M8 VAR_037495 p.Arg383Pro LB/B rs34425674 - STARD13 Q9Y3M8 VAR_037496 p.Asn798Ser LB/B rs35144435 - STARD3 Q14849 VAR_027877 p.Arg117Gln LB/B rs1877031 - STARD3 Q14849 VAR_027878 p.Gly216Ala LB/B rs11556624 - STARD5 Q9NSY2 VAR_052071 p.Gly74Ser LB/B rs4384572 - STARD6 P59095 VAR_024651 p.Glu159Lys LB/B rs2917782 - STARD7 Q9NQZ5 VAR_020345 p.Arg140Pro LB/B rs2276650 - STARD8 Q92502 VAR_036588 p.Gly188Ser US rs139380533 A breast cancer sample STARD8 Q92502 VAR_036589 p.Glu242Lys US - A breast cancer sample STARD8 Q92502 VAR_061816 p.Arg327Gln LB/B rs55962426 - STARD9 Q9P2P6 VAR_037257 p.Arg1172Cys LB/B rs12594837 - STARD9 Q9P2P6 VAR_037258 p.Pro1720Leu LB/B rs7161810 - STARD9 Q9P2P6 VAR_037259 p.Ala2205Val LB/B rs16957055 - STARD9 Q9P2P6 VAR_037260 p.Arg2677His LB/B rs8030587 - STARD9 Q9P2P6 VAR_037261 p.Thr2855Ile LB/B rs8031218 - STARD9 Q9P2P6 VAR_037262 p.Pro2869Ser LB/B rs11857283 - STARD9 Q9P2P6 VAR_037263 p.Arg3015Gly LB/B rs3742995 - STARD9 Q9P2P6 VAR_037264 p.Asn3383Asp LB/B rs3742993 - STARD9 Q9P2P6 VAR_037266 p.Tyr3469Cys LB/B rs16957061 - STARD9 Q9P2P6 VAR_059811 p.Arg835Cys LB/B rs12594837 - STAT1 P42224 VAR_018265 p.Leu600Pro LP/P rs137852678 Immunodeficiency 31B (IMD31B) [MIM:613796] STAT1 P42224 VAR_018266 p.Leu706Ser LP/P rs137852677 Immunodeficiency 31A (IMD31A) [MIM:614892] STAT1 P42224 VAR_034521 p.Ile30Thr LB/B rs34255470 - STAT1 P42224 VAR_036001 p.Pro491Ala US - A breast cancer sample STAT1 P42224 VAR_065815 p.Lys201Asn LP/P rs587776870 Immunodeficiency 31B (IMD31B) [MIM:613796] STAT1 P42224 VAR_065816 p.Glu320Gln LP/P rs137852680 Immunodeficiency 31A (IMD31A) [MIM:614892] STAT1 P42224 VAR_065817 p.Gln463His LP/P rs137852679 Immunodeficiency 31A (IMD31A) [MIM:614892] STAT1 P42224 VAR_065934 p.Asp165Gly LP/P rs387906764 Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_065935 p.Asp165His LP/P rs387906767 Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_065936 p.Tyr170Asn LP/P rs387906766 Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_065937 p.Cys174Arg LP/P rs387906763 Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_065938 p.Met202Ile LP/P - Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_065939 p.Met202Val LP/P rs387906762 Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_065940 p.Ala267Val LP/P rs387906759 Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_065941 p.Gln271Pro LP/P rs387906768 Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_065942 p.Arg274Gln LP/P rs387906760 Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_065943 p.Arg274Trp LP/P rs387906758 Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_065944 p.Lys286Ile LP/P rs387906761 Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_065945 p.Thr288Ala LP/P rs387906765 Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_068713 p.Lys637Glu LP/P rs587777705 Immunodeficiency 31A (IMD31A) [MIM:614892] STAT1 P42224 VAR_068714 p.Lys673Arg LP/P rs587777704 Immunodeficiency 31A (IMD31A) [MIM:614892] STAT1 P42224 VAR_075494 p.Asn179Lys LP/P rs587777628 Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_075495 p.Lys278Glu LP/P rs863223398 Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_075496 p.Gln285Arg LP/P rs587777629 Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_075497 p.Lys298Asn LP/P - Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_075498 p.Gly384Asp LP/P rs796065052 Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_075499 p.Thr385Met LP/P rs587777630 Immunodeficiency 31C (IMD31C) [MIM:614162] STAT1 P42224 VAR_075500 p.Tyr701Cys LP/P - Immunodeficiency 31B (IMD31B) [MIM:613796] STAT2 P52630 VAR_014896 p.Gln66His LB/B rs2066816 - STAT2 P52630 VAR_014897 p.Leu220Pro LB/B rs2066817 - STAT2 P52630 VAR_014898 p.Thr448Met LB/B rs2066815 - STAT2 P52630 VAR_014899 p.Ile464Val LB/B rs2066811 - STAT2 P52630 VAR_014900 p.Ser501Ile LB/B rs2066809 - STAT2 P52630 VAR_014901 p.Met594Ile LB/B rs2066807 - STAT2 P52630 VAR_019213 p.Gln826His LB/B rs2229363 - STAT2 P52630 VAR_052072 p.Cys246Ser LB/B rs2228259 - STAT2 P52630 VAR_084450 p.Arg148Gln LP/P - Pseudo-TORCH syndrome 3 (PTORCH3) [MIM:618886] STAT2 P52630 VAR_084451 p.Arg148Trp LP/P rs1458224681 Pseudo-TORCH syndrome 3 (PTORCH3) [MIM:618886] STAT3 P40763 VAR_018679 p.Met143Ile LB/B rs17878478 - STAT3 P40763 VAR_018683 p.Gln32Lys LB/B rs1803125 - STAT3 P40763 VAR_037365 p.Arg382Leu LP/P rs113994136 Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3 P40763 VAR_037366 p.Arg382Gln LP/P rs113994136 Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3 P40763 VAR_037367 p.Arg382Trp LP/P rs113994135 Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3 P40763 VAR_037368 p.Phe384Leu LP/P - Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3 P40763 VAR_037369 p.Phe384Ser LP/P - Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3 P40763 VAR_037370 p.Thr389Ile LP/P rs397514766 Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3 P40763 VAR_037371 p.Arg423Gln LP/P rs113994137 Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3 P40763 VAR_037372 p.His437Tyr LP/P - Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3 P40763 VAR_037374 p.Phe561Tyr LB/B rs1064116 - STAT3 P40763 VAR_037375 p.Ser611Asn LP/P - Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3 P40763 VAR_037376 p.Phe621Val LP/P - Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3 P40763 VAR_037377 p.Thr622Ile LP/P - Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3 P40763 VAR_037378 p.Val637Leu LP/P - Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3 P40763 VAR_037379 p.Val637Met LP/P rs113994139 Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3 P40763 VAR_037381 p.Tyr657Cys LP/P rs193922721 Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3 P40763 VAR_071885 p.Lys392Arg LP/P rs587777648 Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] STAT3 P40763 VAR_071886 p.Asn646Lys LP/P rs587777649 Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] STAT3 P40763 VAR_071887 p.Lys658Asn LP/P rs587777650 Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] STAT3 P40763 VAR_071888 p.Thr716Met LP/P rs869312892 Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] STAT3 P40763 VAR_075414 p.Asn395Tyr US - Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3 P40763 VAR_075415 p.Asn425Tyr US - Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3 P40763 VAR_078445 p.Pro330Ser LP/P - Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] STAT4 Q14765 VAR_020190 p.Ile115Val LB/B rs3024839 - STAT4 Q14765 VAR_036002 p.Glu112Gln US - A breast cancer sample STAT4 Q14765 VAR_047939 p.Arg584Trp LB/B rs3024933 - STAT4 Q14765 VAR_088806 p.His623Tyr LP/P - Disabling pansclerotic morphea of childhood (DPMC) [MIM:620443] STAT4 Q14765 VAR_088807 p.Ala635Val LP/P - Disabling pansclerotic morphea of childhood (DPMC) [MIM:620443] STAT4 Q14765 VAR_088808 p.Ala650Asp LP/P - Disabling pansclerotic morphea of childhood (DPMC) [MIM:620443] STAT5A P42229 VAR_052073 p.Arg389His LB/B rs2230134 - STAT5B P51692 VAR_018728 p.Ala630Pro LP/P rs121908501 Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive (GHISID1) [MIM:245590] STAT5B P51692 VAR_052074 p.Ala130Val LB/B rs2277619 - STAT5B P51692 VAR_067368 p.Phe646Ser LP/P - Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive (GHISID1) [MIM:245590] STAT5B P51692 VAR_085463 p.Gln177Pro LP/P rs1555549674 Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant (GHISID2) [MIM:618985] STAT5B P51692 VAR_085464 p.Gln474Arg LP/P rs1555548680 Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant (GHISID2) [MIM:618985] STAT5B P51692 VAR_085465 p.Ala478Val LP/P rs1555548678 Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant (GHISID2) [MIM:618985] STAT6 P42226 VAR_013094 p.Met181Arg LB/B rs3024952 - STAT6 P42226 VAR_059812 p.Asp419Asn LB/B rs11172102 - STAU2 Q9NUL3 VAR_023394 p.Val198Met LB/B rs949493 - STEAP1 Q9UHE8 VAR_053696 p.His47Gln LB/B rs4015375 - STEAP1 Q9UHE8 VAR_053697 p.Phe169Leu LB/B rs2888782 - STEAP1B Q6NZ63 VAR_039339 p.Ile7Val LB/B rs7787814 - STEAP1B Q6NZ63 VAR_039340 p.Gln29Arg LB/B rs16881810 - STEAP1B Q6NZ63 VAR_039341 p.Arg166Met LB/B rs16881812 - STEAP1B Q6NZ63 VAR_039342 p.Ile210Thr LB/B rs16881817 - STEAP2 Q8NFT2 VAR_057727 p.Gly214Glu LB/B rs13228098 - STEAP2 Q8NFT2 VAR_057728 p.Arg456Gln LB/B rs194524 - STEAP2 Q8NFT2 VAR_060387 p.Phe17Cys LB/B rs194520 - STEAP2 Q8NFT2 VAR_060388 p.Asp40Tyr LB/B rs17863046 - STEAP2 Q8NFT2 VAR_060389 p.Met475Ile LB/B rs194525 - STEAP3 Q658P3 VAR_031975 p.Ala184Thr LB/B rs17013371 - STEAP4 Q687X5 VAR_031976 p.Gly75Asp LB/B rs1981529 - STEAP4 Q687X5 VAR_031977 p.Ala122Thr LB/B rs34741656 - STH Q8IWL8 VAR_019548 p.Gln7Arg LB/B rs62063857 - STIL Q15468 VAR_029870 p.Ala86Val LB/B rs3125630 - STIL Q15468 VAR_029871 p.His984Arg LB/B rs13376679 - STIL Q15468 VAR_029872 p.Pro1012Arg LB/B - - STIL Q15468 VAR_051386 p.Ala1145Val LB/B rs3766317 - STIL Q15468 VAR_072404 p.Leu798Trp LP/P rs398122976 Microcephaly 7, primary, autosomal recessive (MCPH7) [MIM:612703] STIM1 Q13586 VAR_061878 p.Pro538Ser LB/B rs35960304 - STIM1 Q13586 VAR_069892 p.His72Gln LP/P rs397515436 Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565] STIM1 Q13586 VAR_069893 p.Asp84Gly LP/P rs397514675 Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565] STIM1 Q13586 VAR_069894 p.His109Asn LP/P rs397514676 Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565] STIM1 Q13586 VAR_069895 p.His109Arg LP/P rs397514677 Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565] STIM1 Q13586 VAR_069896 p.Arg429Cys LP/P rs397514671 Immunodeficiency 10 (IMD10) [MIM:612783] STIM1 Q13586 VAR_071476 p.Arg304Trp LP/P rs483352867 Stormorken syndrome (STRMK) [MIM:185070] STIM1 Q13586 VAR_071477 p.Arg426Cys LB/B rs1057519505 - STIM1 Q13586 VAR_074037 p.Ile115Phe LP/P rs527236030 Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565] STIM1 Q13586 VAR_074037 p.Ile115Phe LP/P rs527236030 Stormorken syndrome (STRMK) [MIM:185070] STIM1 Q13586 VAR_075619 p.Asn80Thr LP/P rs748277951 Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565] STIM1 Q13586 VAR_075620 p.Gly81Asp LP/P - Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565] STIM1 Q13586 VAR_075621 p.Leu96Val LP/P - Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565] STIM1 Q13586 VAR_075622 p.Phe108Ile LP/P - Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565] STIM1 Q13586 VAR_075623 p.Phe108Leu LP/P - Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565] STING1 Q86WV6 VAR_029863 p.Arg71His LB/B rs11554776 - STING1 Q86WV6 VAR_029864 p.His232Arg LB/B rs1131769 - STING1 Q86WV6 VAR_029865 p.Arg293Gln LB/B rs7380824 - STING1 Q86WV6 VAR_071878 p.Val147Leu LP/P rs587777611 STING-associated vasculopathy, infantile-onset (SAVI) [MIM:615934] STING1 Q86WV6 VAR_071879 p.Asn154Ser LP/P rs587777609 STING-associated vasculopathy, infantile-onset (SAVI) [MIM:615934] STING1 Q86WV6 VAR_071880 p.Val155Met LP/P rs587777610 STING-associated vasculopathy, infantile-onset (SAVI) [MIM:615934] STING1 Q86WV6 VAR_081660 p.Arg284Ser US - - STK10 O94804 VAR_023827 p.Lys277Glu LP/P rs757545210 Testicular germ cell tumor (TGCT) [MIM:273300] STK10 O94804 VAR_041131 p.Arg268Cys LB/B rs35826078 - STK10 O94804 VAR_041132 p.Arg322Trp LB/B rs56214442 - STK10 O94804 VAR_041133 p.Thr336Ile LB/B rs55972616 - STK10 O94804 VAR_041134 p.Asn467Ser LB/B rs56063773 - STK10 O94804 VAR_041135 p.Met710Thr LB/B rs34936670 - STK10 O94804 VAR_041136 p.Ser853Leu LB/B rs56066852 - STK10 O94804 VAR_041137 p.Ser905Thr LB/B rs55791916 - STK10 O94804 VAR_041138 p.Cys947Tyr LB/B rs56355550 - STK10 O94804 VAR_051671 p.Pro480Leu LB/B rs34505340 - STK10 O94804 VAR_051672 p.Pro520Leu LB/B rs17074311 - STK10 O94804 VAR_051673 p.Ser942Asn LB/B rs1128204 - STK11 Q15831 VAR_006202 p.Leu67Pro LP/P rs137853077 Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11 Q15831 VAR_007921 p.Asp194Asn LP/P rs121913315 Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11 Q15831 VAR_007922 p.Arg297Lys LP/P rs1568710381 Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11 Q15831 VAR_033138 p.Tyr49Asp US rs137853080 Melanoma STK11 Q15831 VAR_033139 p.Gly135Arg US rs137853081 Melanoma STK11 Q15831 VAR_033140 p.Gly163Asp LP/P rs137853078 Testicular germ cell tumor (TGCT) [MIM:273300] STK11 Q15831 VAR_033141 p.Asp194Tyr US rs121913315 Melanoma STK11 Q15831 VAR_033142 p.Trp239Cys LP/P rs137853082 Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11 Q15831 VAR_033144 p.Pro315Ser US rs786202431 Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11 Q15831 VAR_041139 p.Arg87Lys US rs1568690463 A metastatic melanoma sample STK11 Q15831 VAR_065627 p.Glu14Lys US - Cervical cancer STK11 Q15831 VAR_065628 p.Glu16Gly LP/P - Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11 Q15831 VAR_065629 p.Val66Met US rs1599915144 Cervical carcinoma STK11 Q15831 VAR_065630 p.Arg86Gly US rs1057520039 Sporadic cancer STK11 Q15831 VAR_065631 p.Gln123Arg US rs764449808 Sporadic cancer STK11 Q15831 VAR_065632 p.Phe157Ser US - Sporadic cancer STK11 Q15831 VAR_065633 p.Leu160Pro US - Cervical cancer STK11 Q15831 VAR_065634 p.Gln170Pro US - Sporadic cancer STK11 Q15831 VAR_065635 p.Gly171Ser US rs1599926499 Colorectal cancer STK11 Q15831 VAR_065636 p.His174Arg US - Sporadic cancer STK11 Q15831 VAR_065637 p.Asp176Tyr US - Sporadic cancer STK11 Q15831 VAR_065638 p.Ile177Asn US rs1057520041 Sporadic cancer STK11 Q15831 VAR_065639 p.Asn181Glu US rs1568707668 Sporadic cancer STK11 Q15831 VAR_065640 p.Asp194Val US rs121913316 Lung cancer STK11 Q15831 VAR_065641 p.Glu199Lys US rs121913317 Colorectal cancer STK11 Q15831 VAR_065642 p.Glu199Gln US - Sporadic cancer STK11 Q15831 VAR_065643 p.Ala205Thr US rs730881981 Sporadic cancer STK11 Q15831 VAR_065644 p.Asp208Asn US rs1555738372 Colorectal cancer STK11 Q15831 VAR_065645 p.Gly215Asp US rs1057520038 Colorectal cancer STK11 Q15831 VAR_065646 p.Ser216Phe US rs1057520017 Sporadic cancer STK11 Q15831 VAR_065647 p.Glu223Val US - Sporadic cancer STK11 Q15831 VAR_065648 p.Thr230Pro US - Sporadic cancer STK11 Q15831 VAR_065649 p.Phe231Leu US rs929783669 Cervical cancer STK11 Q15831 VAR_065650 p.Ser232Pro US - Sporadic cancer STK11 Q15831 VAR_065651 p.Leu245Arg US - Sporadic cancer STK11 Q15831 VAR_065652 p.Thr250Pro US - Sporadic cancer STK11 Q15831 VAR_065653 p.Tyr272His US - Sporadic cancer STK11 Q15831 VAR_065654 p.Asp277Tyr US - Sporadic cancer STK11 Q15831 VAR_065655 p.Pro281Leu US rs121913322 Ovarian carcinoma STK11 Q15831 VAR_065656 p.Leu285Gln US - Sporadic cancer STK11 Q15831 VAR_065657 p.Pro314His US - Colorectal cancer STK11 Q15831 VAR_065658 p.Pro324Leu US rs367807476 Gastric carcinoma STK11 Q15831 VAR_065659 p.Phe354Leu US rs59912467 Colorectal cancer STK11 Q15831 VAR_065660 p.Thr367Met US rs587782835 Colorectal cancer STK11 Q15831 VAR_071058 p.Asp176Asn LP/P rs730881979 Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11 Q15831 VAR_071059 p.Trp308Cys LP/P rs1057520042 Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11IP Q8N1F8 VAR_038529 p.Arg382His LB/B rs17855575 - STK11IP Q8N1F8 VAR_038530 p.Arg399Gly LB/B rs17855576 - STK11IP Q8N1F8 VAR_038531 p.Val552Ile LB/B rs673951 - STK11IP Q8N1F8 VAR_038532 p.Ser741Phe LB/B rs627530 - STK11IP Q8N1F8 VAR_038533 p.Ile1074Val LB/B rs17853279 - STK16 O75716 VAR_041140 p.His41Arg LB/B rs34799131 - STK16 O75716 VAR_041141 p.Glu55Lys LB/B rs35947471 - STK16 O75716 VAR_041142 p.Ile77Val LB/B rs34282267 - STK16 O75716 VAR_041143 p.Arg266Trp LB/B rs17849638 - STK16 O75716 VAR_041144 p.Pro277Leu LB/B rs35454203 - STK17A Q9UEE5 VAR_019991 p.Lys362Glu LB/B rs1044141 - STK17A Q9UEE5 VAR_032823 p.Glu286Gln LB/B rs3779062 - STK17A Q9UEE5 VAR_041145 p.Glu126Asp LB/B rs56286238 - STK17A Q9UEE5 VAR_041146 p.Met167Thr LB/B rs35940029 - STK17B O94768 VAR_041147 p.Ser320Phe LB/B rs34740616 - STK19 P49842 VAR_042362 p.Ser197Gly LB/B rs616634 - STK19 P49842 VAR_042363 p.Ala217Val LB/B rs7743647 - STK24 Q9Y6E0 VAR_041148 p.Ala414Val LB/B rs55953606 - STK24 Q9Y6E0 VAR_041149 p.Leu426Ile LB/B rs55897869 - STK25 O00506 VAR_051674 p.Gln64His LB/B rs34341643 - STK26 Q9P289 VAR_040844 p.Gln9Arg LB/B rs56035648 - STK26 Q9P289 VAR_040845 p.Gly36Trp US - A gastric adenocarcinoma sample STK26 Q9P289 VAR_040846 p.Arg45Cys LB/B rs56044451 - STK3 Q13188 VAR_041122 p.Val60Leu US - An ovarian clear cell carcinoma sample STK3 Q13188 VAR_051670 p.Phe418Cys LB/B rs36047674 - STK31 Q9BXU1 VAR_031600 p.Gln71His LB/B rs6945306 - STK31 Q9BXU1 VAR_031601 p.Glu261Lys LB/B rs10264952 - STK31 Q9BXU1 VAR_031602 p.Lys268Asn LB/B rs10264967 - STK31 Q9BXU1 VAR_031603 p.Thr362Pro LB/B rs35545265 - STK31 Q9BXU1 VAR_031604 p.Gly410Glu LB/B rs4722266 - STK31 Q9BXU1 VAR_031605 p.Lys1009Thr LB/B rs33998018 - STK31 Q9BXU1 VAR_041150 p.Ser125Phe LB/B rs56268851 - STK31 Q9BXU1 VAR_041151 p.Ile277Lys LB/B rs55950645 - STK31 Q9BXU1 VAR_041152 p.Ala393Thr LB/B rs56244148 - STK31 Q9BXU1 VAR_041153 p.Ala489Pro LB/B rs34414354 - STK31 Q9BXU1 VAR_041154 p.Ala600Thr LB/B rs55796076 - STK31 Q9BXU1 VAR_041155 p.Asn621Lys LB/B rs10263079 - STK31 Q9BXU1 VAR_041156 p.Ser623Ile LB/B rs10247878 - STK31 Q9BXU1 VAR_041157 p.His684Arg LB/B rs41273999 - STK31 Q9BXU1 VAR_041158 p.His684Tyr US - A lung neuroendocrine carcinoma sample STK31 Q9BXU1 VAR_041159 p.Glu709Lys LB/B rs56181834 - STK31 Q9BXU1 VAR_041160 p.Val860Leu US - A lung small cell carcinoma sample STK31 Q9BXU1 VAR_041161 p.Thr1000Met LB/B rs55794023 - STK31 Q9BXU1 VAR_041162 p.Thr1010Ser LB/B rs56391043 - STK31 Q9BXU1 VAR_051675 p.Arg385Cys LB/B rs35995607 - STK32A Q8WU08 VAR_041163 p.Lys58Met LB/B rs35852718 - STK32A Q8WU08 VAR_041164 p.Ser89Phe US - A metastatic melanoma sample STK32A Q8WU08 VAR_041165 p.Met316Ile US - A lung neuroendocrine carcinoma sample STK32B Q9NY57 VAR_025899 p.Arg198Gly LB/B rs3733182 - STK32B Q9NY57 VAR_041166 p.Gly35Glu US - A metastatic melanoma sample STK32B Q9NY57 VAR_041167 p.Arg244His LB/B rs35207488 - STK32B Q9NY57 VAR_041168 p.Asp310Val LB/B rs56259884 - STK32B Q9NY57 VAR_041169 p.Lys342Thr LB/B rs55961955 - STK32C Q86UX6 VAR_025900 p.Thr334Ala LB/B rs17854384 - STK32C Q86UX6 VAR_035637 p.Arg376His US rs764558009 A colorectal cancer sample STK32C Q86UX6 VAR_041170 p.Ala454Thr LB/B rs56109103 - STK32C Q86UX6 VAR_041171 p.Glu467Lys LB/B rs55812591 - STK32C Q86UX6 VAR_084657 p.Val151Leu US - - STK33 Q9BYT3 VAR_041172 p.Glu98Asp LB/B rs34525052 - STK33 Q9BYT3 VAR_041173 p.Leu160Val US - A lung large cell carcinoma sample STK33 Q9BYT3 VAR_041174 p.Asp436Glu LB/B rs3751096 - STK33 Q9BYT3 VAR_041175 p.Ala437Thr LB/B rs3751095 - STK33 Q9BYT3 VAR_041176 p.Ala458Glu LB/B rs35296353 - STK33 Q9BYT3 VAR_061746 p.Lys60Glu LB/B rs60786172 - STK36 Q9NRP7 VAR_025727 p.Lys463Asn LB/B rs17856747 - STK36 Q9NRP7 VAR_025728 p.Ser767Thr LB/B rs17856748 - STK36 Q9NRP7 VAR_025729 p.Gly1003Asp LB/B rs1863704 - STK36 Q9NRP7 VAR_041177 p.Ile90Met LB/B rs55706732 - STK36 Q9NRP7 VAR_041178 p.Arg240Trp LB/B rs35038757 - STK36 Q9NRP7 VAR_041179 p.Lys295Arg LB/B rs1863703 - STK36 Q9NRP7 VAR_041180 p.Asp329Asn LB/B rs34027859 - STK36 Q9NRP7 VAR_041181 p.Leu462Val LB/B rs45586733 - STK36 Q9NRP7 VAR_041182 p.Phe476Ser LB/B rs34128793 - STK36 Q9NRP7 VAR_041183 p.Arg477Trp LB/B rs16859180 - STK36 Q9NRP7 VAR_041184 p.Arg583Gln LB/B rs1344642 - STK36 Q9NRP7 VAR_041185 p.Ser660Cys US rs1244829273 A breast pleomorphic lobular carcinoma sample STK36 Q9NRP7 VAR_041186 p.Leu672Pro LB/B rs35448374 - STK36 Q9NRP7 VAR_041187 p.Ser767Tyr US - An ovarian papillary serous adenocarcinoma sample STK36 Q9NRP7 VAR_041188 p.Thr816Ala LB/B rs34271431 - STK36 Q9NRP7 VAR_041189 p.Arg839Gln LB/B rs13023540 - STK36 Q9NRP7 VAR_041190 p.Leu840Val LB/B rs36099639 - STK36 Q9NRP7 VAR_041191 p.Tyr1111Cys LB/B rs56278660 - STK36 Q9NRP7 VAR_041192 p.Arg1112Gln LB/B rs12993599 - STK36 Q9NRP7 VAR_041193 p.Gln1138Lys US - An ovarian serous carcinoma sample STK36 Q9NRP7 VAR_041194 p.Pro1185Ser US - - STK36 Q9NRP7 VAR_041195 p.His1313Pro LB/B - - STK36 Q9NRP7 VAR_057112 p.Gln638Pro LB/B rs6709303 - STK36 Q9NRP7 VAR_061747 p.Val1004Ile LB/B rs55633575 - STK38 Q15208 VAR_041196 p.Glu18Lys US - A metastatic melanoma sample STK38 Q15208 VAR_041197 p.Asp145Asn LB/B rs56005153 - STK38 Q15208 VAR_041198 p.Lys267Arg LB/B rs56105564 - STK38L Q9Y2H1 VAR_041199 p.Gly99Ala US - - STK4 Q13043 VAR_027040 p.Val312Met LB/B rs17420378 - STK4 Q13043 VAR_041123 p.His162Asn LB/B rs55850759 - STK4 Q13043 VAR_041124 p.Arg310Gln LB/B rs35447878 - STK4 Q13043 VAR_041125 p.Ile355Thr LB/B rs35944046 - STK4 Q13043 VAR_041126 p.Pro416Leu LB/B rs33963346 - STK40 Q8N2I9 VAR_041200 p.Ala10Val LB/B rs56314546 - STK40 Q8N2I9 VAR_041201 p.Met133Thr US rs755089893 A colorectal adenocarcinoma sample STK40 Q8N2I9 VAR_041202 p.Arg211Gln US rs539738963 A colorectal adenocarcinoma sample STK40 Q8N2I9 VAR_041203 p.Ala395Thr LB/B rs3795498 - STKLD1 Q8NE28 VAR_025611 p.Glu473Lys LB/B rs3124747 - STKLD1 Q8NE28 VAR_025612 p.Arg568Gln LB/B rs17150554 - STKLD1 Q8NE28 VAR_041371 p.Gly139Asp US - A glioblastoma multiforme sample STN1 Q9H668 VAR_022364 p.Thr151Ala LB/B rs2487999 - STN1 Q9H668 VAR_022365 p.Ser248Cys LB/B rs10786775 - STN1 Q9H668 VAR_078499 p.Arg135Thr LP/P rs1057519583 Cerebroretinal microangiopathy with calcifications and cysts 2 (CRMCC2) [MIM:617341] STN1 Q9H668 VAR_078500 p.Asp157Tyr LP/P rs765462548 Cerebroretinal microangiopathy with calcifications and cysts 2 (CRMCC2) [MIM:617341] STOML2 Q9UJZ1 VAR_026830 p.Leu129Pro LB/B rs17856326 - STON1 Q9Y6Q2 VAR_020183 p.Arg127Thr LB/B rs940389 - STON1 Q9Y6Q2 VAR_020184 p.Gln544His LB/B rs3828341 - STON1 Q9Y6Q2 VAR_020185 p.Gln607His LB/B rs3792234 - STON1 Q9Y6Q2 VAR_052156 p.Lys8Asn LB/B rs17039250 - STON2 Q8WXE9 VAR_020182 p.Ser307Pro LB/B rs3813535 - STON2 Q8WXE9 VAR_021912 p.Ser851Ala LB/B rs2241621 - STON2 Q8WXE9 VAR_046643 p.Arg646His LB/B rs34323725 - STON2 Q8WXE9 VAR_046644 p.Thr694Ala LB/B rs35689202 - STOX1 Q6ZVD7 VAR_023784 p.Arg18Pro LP/P rs556362193 Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404] STOX1 Q6ZVD7 VAR_023785 p.Tyr153His LB/B rs1341667 - STOX1 Q6ZVD7 VAR_023786 p.Glu608Asp LB/B rs10509305 - STOX1 Q6ZVD7 VAR_023787 p.Asn825Ile LP/P rs41278532 Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404] STOX1 Q6ZVD7 VAR_051388 p.Ala863Thr LB/B rs7904300 - STPG1 Q5TH74 VAR_035614 p.Ser254Phe US - A breast cancer sample STPG2 Q8N412 VAR_037359 p.Cys111Trp LB/B rs13131259 - STPG2 Q8N412 VAR_037360 p.Phe112Val LB/B rs13131258 - STPG2 Q8N412 VAR_037361 p.Tyr125His LB/B rs17558193 - STPG2 Q8N412 VAR_037362 p.Ile178Val LB/B rs2903150 - STPG2 Q8N412 VAR_037363 p.Lys279Arg LB/B rs7654193 - STPG2 Q8N412 VAR_037364 p.Val420Ala LB/B rs17026871 - STPG3 Q8N7X2 VAR_039898 p.Ser126Gly LB/B rs28657439 - STPG4 Q8N801 VAR_050715 p.Leu17Met LB/B rs815804 - STPG4 Q8N801 VAR_050716 p.Gln31Arg LB/B rs17036300 - STRA6 Q9BX79 VAR_037168 p.Pro90Leu LP/P rs118203961 Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186] STRA6 Q9BX79 VAR_037169 p.Pro293Leu LP/P rs118203958 Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186] STRA6 Q9BX79 VAR_037170 p.Thr321Pro LP/P rs118203962 Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186] STRA6 Q9BX79 VAR_037171 p.Gly339Ser LB/B rs17852249 - STRA6 Q9BX79 VAR_037172 p.Leu517Phe LB/B rs11545567 - STRA6 Q9BX79 VAR_037173 p.Met527Ile LB/B rs736118 - STRA6 Q9BX79 VAR_037174 p.Thr644Met LP/P rs118203960 Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186] STRA6 Q9BX79 VAR_037175 p.Arg655Cys LP/P rs118203959 Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186] STRA6 Q9BX79 VAR_060203 p.Gly217Glu LB/B rs909629751 - STRA6 Q9BX79 VAR_060204 p.Gln438Arg LB/B rs869025269 - STRA6 Q9BX79 VAR_060205 p.Arg638Pro LB/B rs144691445 - STRA6 Q9BX79 VAR_066849 p.Gly304Lys LP/P rs151341424 Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186] STRA8 Q7Z7C7 VAR_081144 p.Thr25Ile US - - STRADA Q7RTN6 VAR_041377 p.Arg13Trp LB/B rs35808156 - STRADA Q7RTN6 VAR_041378 p.Ser60Ile LB/B rs56271007 - STRADA Q7RTN6 VAR_041379 p.Pro64Ser LB/B rs55695051 - STRADB Q9C0K7 VAR_041335 p.Gly155Glu US - A metastatic melanoma sample STRADB Q9C0K7 VAR_041336 p.Pro386Leu LB/B rs35636836 - STRBP Q96SI9 VAR_035662 p.Gly280Arg US - A breast cancer sample STRC Q7RTU9 VAR_051389 p.Leu1640Phe LB/B rs2920791 - STRIP1 Q5VSL9 VAR_076430 p.Lys628Asn LB/B - - STRIP2 Q9ULQ0 VAR_049021 p.Arg383Gln LB/B rs2242030 - STRN3 Q13033 VAR_054337 p.Asn471Ser LB/B rs2273171 - STRN4 Q9NRL3 VAR_053419 p.Val568Ile LB/B rs10409124 - STS P08842 VAR_007240 p.Ser341Leu LP/P rs137853167 Ichthyosis, X-linked (IXL) [MIM:308100] STS P08842 VAR_007241 p.Trp372Arg LP/P rs137853165 Ichthyosis, X-linked (IXL) [MIM:308100] STS P08842 VAR_007242 p.Cys446Tyr LP/P rs137853166 Ichthyosis, X-linked (IXL) [MIM:308100] STS P08842 VAR_014020 p.Trp372Ser LP/P rs137853168 Ichthyosis, X-linked (IXL) [MIM:308100] STS P08842 VAR_014021 p.Gly380Arg LP/P - Ichthyosis, X-linked (IXL) [MIM:308100] STS P08842 VAR_014022 p.His444Arg LP/P rs137853169 Ichthyosis, X-linked (IXL) [MIM:308100] STS P08842 VAR_014023 p.Gln560Pro LP/P - Ichthyosis, X-linked (IXL) [MIM:308100] STS P08842 VAR_081729 p.Val476Met LB/B rs183370963 - STT3A P46977 VAR_070944 p.Val626Ala LP/P rs587777216 Congenital disorder of glycosylation 1W, autosomal recessive (CDG1WAR) [MIM:615596] STT3A P46977 VAR_086762 p.His46Arg LP/P - Congenital disorder of glycosylation 1W, autosomal dominant (CDG1WAD) [MIM:619714] STT3A P46977 VAR_086763 p.Arg160Gln LP/P - Congenital disorder of glycosylation 1W, autosomal dominant (CDG1WAD) [MIM:619714] STT3A P46977 VAR_086764 p.Arg329Cys US - Congenital disorder of glycosylation 1W, autosomal dominant (CDG1WAD) [MIM:619714] STT3A P46977 VAR_086765 p.Arg405Cys LP/P - Congenital disorder of glycosylation 1W, autosomal dominant (CDG1WAD) [MIM:619714] STT3A P46977 VAR_086766 p.Arg405His LP/P - Congenital disorder of glycosylation 1W, autosomal dominant (CDG1WAD) [MIM:619714] STT3A P46977 VAR_086767 p.Tyr530Ser US - Congenital disorder of glycosylation 1W, autosomal dominant (CDG1WAD) [MIM:619714] STT3A P46977 VAR_086768 p.Thr546Ile US - Congenital disorder of glycosylation 1W, autosomal dominant (CDG1WAD) [MIM:619714] STUB1 Q9UNE7 VAR_071293 p.Ala79Asp LP/P rs587777347 Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] STUB1 Q9UNE7 VAR_071294 p.Ala79Thr LP/P rs587777346 Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] STUB1 Q9UNE7 VAR_071295 p.Leu123Val LP/P rs587777344 Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] STUB1 Q9UNE7 VAR_071296 p.Asn130Ile LP/P rs587777341 Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] STUB1 Q9UNE7 VAR_071297 p.Trp147Cys LP/P rs587777342 Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] STUB1 Q9UNE7 VAR_071298 p.Leu165Phe LP/P rs587777340 Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] STUB1 Q9UNE7 VAR_071299 p.Ser236Thr LP/P - Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] STUB1 Q9UNE7 VAR_071300 p.Met240Thr LP/P rs587777345 Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] STUB1 Q9UNE7 VAR_071301 p.Thr246Met LP/P rs587777343 Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] STUB1 Q9UNE7 VAR_072348 p.Glu28Lys LP/P - Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] STUB1 Q9UNE7 VAR_072349 p.Asn65Ser LP/P rs690016544 Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] STUB1 Q9UNE7 VAR_072350 p.Lys145Gln LP/P rs146251364 Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] STUB1 Q9UNE7 VAR_085041 p.Pro57Ser US - - STX11 O75558 VAR_011995 p.Glu31Gln LB/B rs1802414 - STX11 O75558 VAR_011996 p.Leu204His LB/B rs1133248 - STX11 O75558 VAR_029769 p.Arg49Gln LB/B rs17073498 - STX11 O75558 VAR_029770 p.Thr277Ala LB/B rs9496891 - STX12 Q86Y82 VAR_035643 p.Pro88Arg US - A breast cancer sample STX18 Q9P2W9 VAR_052250 p.Asp32Tyr LB/B rs13134070 - STX18 Q9P2W9 VAR_052251 p.Ser51Gly LB/B rs36109375 - STX18 Q9P2W9 VAR_052252 p.Ser228Thr LB/B rs33952588 - STX1B P61266 VAR_072675 p.Val216Glu LP/P rs724159974 Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] STX1B P61266 VAR_072676 p.Gly226Arg LP/P rs727502806 Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] STX2 P32856 VAR_014850 p.Ser42Thr LB/B rs17564 - STX2 P32856 VAR_057259 p.Lys54Arg LB/B rs7301926 - STX3 Q13277 VAR_028189 p.Glu83Asp LB/B rs12282741 - STX3 Q13277 VAR_052246 p.Gly276Ser LB/B rs34563654 - STX3 Q13277 VAR_052247 p.Ser285Pro LB/B rs34753750 - STX3 Q13277 VAR_086135 p.Glu41Gly US rs797045154 - STX5 Q13190 VAR_035642 p.Gln79His US - A breast cancer sample STX5 Q13190 VAR_052248 p.Pro51Leu LB/B rs3802945 - STX5 Q13190 VAR_052249 p.Gln72His LB/B rs11231241 - STX5 Q13190 VAR_081529 p.Ile138Val US rs746774052 - STX5 Q13190 VAR_088766 p.Met55Val LP/P - Congenital disorder of glycosylation 2AA (CDG2AA) [MIM:620454] STXBP1 P61764 VAR_046205 p.Val84Asp LP/P rs121918320 Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_046206 p.Cys180Tyr LP/P rs121918318 Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_046207 p.Met443Arg LP/P rs121918319 Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_046208 p.Gly544Asp LP/P rs121918317 Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_071814 p.Glu283Lys LP/P rs587777310 Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_071815 p.Asp285Tyr LP/P - Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_071816 p.His445Pro LP/P - Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_073148 p.Val84Ile LB/B rs34830702 - STXBP1 P61764 VAR_073149 p.Leu183Arg LP/P - Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_073150 p.Ala251Thr LP/P - Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_073151 p.Arg406His LP/P rs886041246 Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_073152 p.Gln431Leu US - - STXBP1 P61764 VAR_073153 p.Pro480Leu LP/P rs796053368 Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_073154 p.Thr574Pro LP/P - Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_078218 p.Arg406Cys LP/P rs796053367 Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_078631 p.Ser42Phe LP/P - Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_078632 p.Ser80Pro LB/B rs1840867221 - STXBP1 P61764 VAR_078633 p.Arg190Trp LP/P rs796053355 Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_078634 p.Cys354Arg LP/P rs886041337 Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_078635 p.Gly544Cys US rs1842044505 - STXBP1 P61764 VAR_078636 p.Thr570Ala US - - STXBP1 P61764 VAR_078758 p.Leu281Pro LP/P - Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1 P61764 VAR_078759 p.Arg292His LP/P rs796053361 Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP2 Q15833 VAR_014934 p.Ile526Val LB/B rs6791 - STXBP2 Q15833 VAR_063814 p.Leu209Pro LP/P rs121918541 Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease (FHL5) [MIM:613101] STXBP2 Q15833 VAR_063816 p.Arg292His LP/P rs746897867 Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease (FHL5) [MIM:613101] STXBP2 Q15833 VAR_063817 p.Arg405Gln LP/P rs773360200 Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease (FHL5) [MIM:613101] STXBP2 Q15833 VAR_063818 p.Arg405Trp LP/P rs769717341 Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease (FHL5) [MIM:613101] STXBP2 Q15833 VAR_063819 p.Pro477Leu LP/P rs121918540 Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease (FHL5) [MIM:613101] STXBP3 O00186 VAR_017570 p.Glu433Gly LB/B rs1044136 - STXBP3 O00186 VAR_017571 p.Cys546Gly LB/B rs1044137 - STXBP3 O00186 VAR_052470 p.Arg295Gln LB/B rs2275344 - STXBP4 Q6ZWJ1 VAR_056999 p.Cys120Arg LB/B rs34870302 - STXBP4 Q6ZWJ1 VAR_063103 p.Gly92Arg LB/B rs1156287 - STXBP5 Q5T5C0 VAR_035235 p.Asn436Ser LB/B rs1039084 - STXBP5L Q9Y2K9 VAR_050076 p.Thr568Ser LB/B rs17249244 - STXBP5L Q9Y2K9 VAR_050077 p.Val855Ile LB/B rs17740066 - STXBP5L Q9Y2K9 VAR_081642 p.Val1043Ile US rs767675000 - STYK1 Q6J9G0 VAR_022245 p.Ser204Gly LB/B rs3759259 - STYK1 Q6J9G0 VAR_030766 p.Arg71Gly LB/B rs6650202 - STYK1 Q6J9G0 VAR_041841 p.Arg210Trp LB/B rs34981955 - STYK1 Q6J9G0 VAR_041842 p.Leu237Ser LB/B rs55877878 - STYK1 Q6J9G0 VAR_041843 p.Arg379His LB/B rs34638573 - STYK1 Q6J9G0 VAR_041844 p.Val395Ile US - A glioblastoma multiforme sample STYK1 Q6J9G0 VAR_041845 p.Val400Leu LB/B rs55766125 - STYXL2 Q5VZP5 VAR_034964 p.Glu265Asp LB/B rs267745 - STYXL2 Q5VZP5 VAR_034965 p.Arg466His LB/B rs6668826 - STYXL2 Q5VZP5 VAR_034966 p.Ala505Thr LB/B rs3795605 - STYXL2 Q5VZP5 VAR_034967 p.Lys855Gln LB/B rs267746 - STYXL2 Q5VZP5 VAR_034968 p.Thr1124Asn LB/B rs2281959 - SUB1 P53999 VAR_032870 p.Ser11Gly LB/B rs17850527 - SUCLA2 Q9P2R7 VAR_013459 p.Ser199Thr LB/B rs7320366 - SUCLA2 Q9P2R7 VAR_046214 p.Val13Met LB/B rs35201084 - SUCLA2 Q9P2R7 VAR_046215 p.Gly118Arg LP/P rs121908537 Mitochondrial DNA depletion syndrome 5 (MTDPS5) [MIM:612073] SUCLA2 Q9P2R7 VAR_046216 p.Arg284Cys LP/P rs121908538 Mitochondrial DNA depletion syndrome 5 (MTDPS5) [MIM:612073] SUCLA2 Q9P2R7 VAR_070123 p.Asp251Asn LP/P rs397515462 Mitochondrial DNA depletion syndrome 5 (MTDPS5) [MIM:612073] SUCLG1 P53597 VAR_065120 p.Met14Leu LP/P rs796052053 Mitochondrial DNA depletion syndrome 9 (MTDPS9) [MIM:245400] SUCLG1 P53597 VAR_065121 p.Pro170Arg LP/P rs267607099 Mitochondrial DNA depletion syndrome 9 (MTDPS9) [MIM:245400] SUCLG1 P53597 VAR_065157 p.Gly85Ala LP/P rs267607097 Mitochondrial DNA depletion syndrome 9 (MTDPS9) [MIM:245400] SUCLG1 P53597 VAR_076432 p.Gly37Ala LB/B rs369610897 - SUCLG2 Q96I99 VAR_052499 p.Lys347Arg LB/B rs9843840 - SUCLG2 Q96I99 VAR_052500 p.Arg381Trp LB/B rs7623258 - SUFU Q9UMX1 VAR_021566 p.Pro15Leu LB/B rs28942088 - SUFU Q9UMX1 VAR_021567 p.Ala340Ser LB/B rs34135067 - SUFU Q9UMX1 VAR_080418 p.Gly19Val LB/B - - SUFU Q9UMX1 VAR_080419 p.Ile37Val LB/B rs745793517 - SUFU Q9UMX1 VAR_080420 p.Val77Met LB/B - - SUFU Q9UMX1 VAR_080421 p.His176Arg LP/P rs1554852272 Joubert syndrome 32 (JBTS32) [MIM:617757] SUFU Q9UMX1 VAR_080422 p.Arg289Gln LB/B rs149016373 - SUFU Q9UMX1 VAR_080423 p.Ile293Val LB/B rs574002050 - SUFU Q9UMX1 VAR_080425 p.Pro382Leu LB/B rs1401882800 - SUFU Q9UMX1 VAR_080426 p.Ile406Thr LP/P rs1554854758 Joubert syndrome 32 (JBTS32) [MIM:617757] SUFU Q9UMX1 VAR_080427 p.Lys442Arg LB/B rs772598739 - SUFU Q9UMX1 VAR_080428 p.Ser481Asn LB/B - - SUGCT Q9HAC7 VAR_054852 p.Arg329Trp LP/P rs137852860 Glutaric aciduria 3 (GA3) [MIM:231690] SUGP1 Q8IWZ8 VAR_051339 p.Arg290His LB/B rs17751061 - SUGP1 Q8IWZ8 VAR_051340 p.Gln568His LB/B rs1044980 - SUGP2 Q8IX01 VAR_023711 p.Gly206Ser LB/B rs4808907 - SUGP2 Q8IX01 VAR_051341 p.Met552Thr LB/B rs10404860 - SUGP2 Q8IX01 VAR_051342 p.Gln649Arg LB/B rs10414535 - SUGP2 Q8IX01 VAR_051343 p.Gln722Arg LB/B rs34540303 - SUGP2 Q8IX01 VAR_051344 p.Arg881Gln LB/B rs35646935 - SULF2 Q8IWU5 VAR_036494 p.Tyr531His US - A breast cancer sample SULF2 Q8IWU5 VAR_036495 p.Asp573Asn US - A breast cancer sample SULF2 Q8IWU5 VAR_052518 p.Arg674His LB/B rs10048853 - SULF2 Q8IWU5 VAR_061885 p.Ala76Thr LB/B rs56218501 - SULT1A1 P50225 VAR_007425 p.Arg213His LB/B rs1042028 - SULT1A1 P50225 VAR_009302 p.Arg37Gln LB/B rs72547527 - SULT1A1 P50225 VAR_009303 p.Val223Met LB/B rs1801030 - SULT1A1 P50225 VAR_014889 p.Asn235Thr LB/B rs35728980 - SULT1A1 P50225 VAR_028721 p.Glu151Asp LB/B rs1042014 - SULT1A1 P50225 VAR_057339 p.Glu151Gln LB/B rs1042011 - SULT1A1 P50225 VAR_061886 p.Glu282Lys LB/B rs36043491 - SULT1A2 P50226 VAR_007426 p.Ile7Thr LB/B rs1136703 - SULT1A2 P50226 VAR_007427 p.Asn235Thr LB/B rs1059491 - SULT1A2 P50226 VAR_057340 p.Pro19Leu LB/B rs10797300 - SULT1A2 P50226 VAR_057341 p.Tyr62Phe LB/B rs4987024 - SULT1A2 P50226 VAR_057342 p.Asn239Ser LB/B rs45472392 - SULT1A2 P50226 VAR_061887 p.Lys282Glu LB/B rs27742 - SULT1A3 P0DMM9 VAR_071108 p.Pro101His LB/B rs751527244 - SULT1A3 P0DMM9 VAR_071109 p.Pro101Leu LB/B rs751527244 - SULT1A3 P0DMM9 VAR_071110 p.Arg144Cys LB/B rs1293732453 - SULT1A3 P0DMM9 VAR_071111 p.Lys234Asn LB/B rs1328799050 - SULT1A4 P0DMN0 VAR_071112 p.Pro101His LB/B rs1460887051 - SULT1A4 P0DMN0 VAR_071113 p.Pro101Leu LB/B rs1460887051 - SULT1A4 P0DMN0 VAR_071114 p.Arg144Cys US - - SULT1A4 P0DMN0 VAR_071115 p.Lys234Asn US - - SULT1B1 O43704 VAR_085176 p.Leu145Val LB/B rs11569736 - SULT1C2 O00338 VAR_021986 p.Tyr128His LB/B rs17036091 - SULT1C2 O00338 VAR_021987 p.Ser255Ala LB/B rs17036104 - SULT1C2 O00338 VAR_061888 p.Arg282Thr LB/B rs45515691 - SULT1C3 Q6IMI6 VAR_033732 p.Tyr148Cys LB/B rs17035911 - SULT1C3 Q6IMI6 VAR_033733 p.Gly179Arg LB/B rs2219078 - SULT1C3 Q6IMI6 VAR_033734 p.Met194Thr LB/B rs6722745 - SULT1C3 Q6IMI6 VAR_052519 p.Ala88Thr LB/B rs11903659 - SULT1C4 O75897 VAR_025404 p.Asp5Glu LB/B rs1402467 - SULT1C4 O75897 VAR_061889 p.Ile68Met LB/B rs41322445 - SULT1E1 P49888 VAR_018907 p.Asp22Tyr LB/B rs11569705 - SULT2A1 Q06520 VAR_052520 p.Ala63Pro LB/B rs11569681 - SULT2A1 Q06520 VAR_052521 p.Ala261Thr LB/B rs11569679 - SULT2A1 Q06520 VAR_083881 p.Lys44Glu LB/B rs772897551 - SULT2A1 Q06520 VAR_083882 p.Pro76Thr LB/B rs775030275 - SULT2A1 Q06520 VAR_083883 p.Glu147Lys LB/B rs751309613 - SULT2A1 Q06520 VAR_083884 p.Glu148Lys LB/B rs368067020 - SULT2A1 Q06520 VAR_083885 p.Leu246Pro LB/B rs757338859 - SULT2A1 Q06520 VAR_083886 p.Phe258Leu LB/B rs746239667 - SULT2A1 Q06520 VAR_083887 p.Gln262Glu LB/B rs753928755 - SULT2B1 O00204 VAR_020887 p.Leu51Ser LB/B rs16982149 - SULT2B1 O00204 VAR_020888 p.Pro345Leu LB/B rs17842463 - SULT2B1 O00204 VAR_021988 p.Val240Ile LB/B rs2302947 - SULT2B1 O00204 VAR_079210 p.Pro149Leu US rs1114167424 Ichthyosis, congenital, autosomal recessive 14 (ARCI14) [MIM:617571] SULT2B1 O00204 VAR_079211 p.Arg274Gln US rs762765702 Ichthyosis, congenital, autosomal recessive 14 (ARCI14) [MIM:617571] SULT6B1 Q6IMI4 VAR_052522 p.Ala61Thr LB/B rs45552433 - SULT6B1 Q6IMI4 VAR_052523 p.Val75Asp LB/B rs45626240 - SULT6B1 Q6IMI4 VAR_052524 p.Lys88Glu LB/B rs45493492 - SULT6B1 Q6IMI4 VAR_052525 p.Glu167Val LB/B rs7425881 - SULT6B1 Q6IMI4 VAR_052526 p.Arg181Ser LB/B rs45439591 - SULT6B1 Q6IMI4 VAR_052527 p.Lys296Arg LB/B rs45495394 - SULT6B1 Q6IMI4 VAR_059853 p.Leu150Phe LB/B rs10205833 - SUMF1 Q8NBK3 VAR_016052 p.Ser63Asn LB/B rs2819590 - SUMF1 Q8NBK3 VAR_016053 p.Ser155Pro LP/P rs137852850 Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_016054 p.Cys218Tyr LP/P rs137852854 Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_016055 p.Ala279Val LP/P rs137852849 Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_016056 p.Cys336Arg LP/P rs137852848 Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_016057 p.Arg345Cys LP/P rs137852852 Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_016058 p.Ala348Pro LP/P rs137852853 Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_016059 p.Arg349Gln LP/P rs137852847 Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_016060 p.Arg349Trp LP/P rs137852846 Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_019050 p.Leu20Phe LP/P rs200142963 Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_019051 p.Ala177Pro LP/P - Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_019052 p.Arg224Trp LP/P rs759888604 Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_019053 p.Asn259Ile LP/P rs764215221 Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_019054 p.Pro266Leu LP/P rs763243827 Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_042602 p.Trp179Ser LP/P rs757323641 Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_080468 p.Gly247Arg LP/P rs1057517363 Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_080469 p.Gly263Val LP/P rs387906976 Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF2 Q8NBJ7 VAR_046951 p.Asp51Glu LB/B rs4245575 - SUMF2 Q8NBJ7 VAR_080774 p.Tyr228Cys US rs778487055 - SUMO2 P61956 VAR_047508 p.Asp16Asn LB/B rs17850328 - SUMO3 P55854 VAR_052692 p.Pro38Ser LB/B rs1051311 - SUMO4 Q6EEV6 VAR_023740 p.Val55Met LB/B rs237025 - SUN1 O94901 VAR_059828 p.His118Tyr LB/B rs6461378 - SUN1 O94901 VAR_071065 p.Ala203Val LB/B rs144929525 - SUN1 O94901 VAR_071066 p.Ala587Val LB/B rs114701323 - SUN2 Q9UH99 VAR_024624 p.Gly671Ser LB/B rs2072797 - SUN2 Q9UH99 VAR_052282 p.Thr33Ala LB/B rs2072799 - SUN2 Q9UH99 VAR_052283 p.Leu89Arg LB/B rs35496634 - SUN2 Q9UH99 VAR_052284 p.Arg348Cys LB/B rs138708 - SUN3 Q8TAQ9 VAR_037458 p.Ile127Val LB/B rs17852360 - SUN3 Q8TAQ9 VAR_037459 p.Leu177Val LB/B rs7797657 - SUN5 Q8TC36 VAR_015147 p.Glu16Lys LB/B rs3746387 - SUN5 Q8TC36 VAR_026677 p.Glu39Asp LB/B rs1133358 - SUN5 Q8TC36 VAR_026678 p.Ala174Thr LB/B rs17123951 - SUN5 Q8TC36 VAR_052285 p.Ile120Val LB/B rs35216976 - SUN5 Q8TC36 VAR_077983 p.Gly114Arg LP/P - Spermatogenic failure 16 (SPGF16) [MIM:617187] SUN5 Q8TC36 VAR_077984 p.Met162Lys US rs886041023 Spermatogenic failure 16 (SPGF16) [MIM:617187] SUN5 Q8TC36 VAR_077985 p.Val261Met US rs886041024 Spermatogenic failure 16 (SPGF16) [MIM:617187] SUN5 Q8TC36 VAR_077986 p.Thr275Met LP/P rs756459525 Spermatogenic failure 16 (SPGF16) [MIM:617187] SUN5 Q8TC36 VAR_077987 p.Asn348Ile LP/P rs758335571 Spermatogenic failure 16 (SPGF16) [MIM:617187] SUN5 Q8TC36 VAR_077988 p.Arg356Cys US rs754130052 Spermatogenic failure 16 (SPGF16) [MIM:617187] SUOX P51687 VAR_002200 p.Arg217Gln LP/P rs121908007 Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300] SUOX P51687 VAR_002201 p.Ala265Asp LP/P rs121908008 Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300] SUOX P51687 VAR_002202 p.Ser427Tyr LP/P - Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300] SUOX P51687 VAR_002203 p.Gly530Asp LP/P rs121908009 Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300] SUOX P51687 VAR_015724 p.Ile258Leu LP/P - Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300] SUOX P51687 VAR_015725 p.Arg268Gln LP/P rs1041681662 Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300] SUOX P51687 VAR_015726 p.Gly362Ser LP/P rs757559168 Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300] SUOX P51687 VAR_015727 p.Arg366His LP/P rs776690106 Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300] SUOX P51687 VAR_015728 p.Lys379Arg LP/P rs777114729 Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300] SUOX P51687 VAR_015729 p.Gln396Arg LP/P - Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300] SUOX P51687 VAR_015730 p.Trp450Arg LP/P - Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300] SUPT16H Q9Y5B9 VAR_086185 p.Ile162Val US - Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum (NEDDFAC) [MIM:619480] SUPT16H Q9Y5B9 VAR_086186 p.Leu432Pro US - Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum (NEDDFAC) [MIM:619480] SUPT16H Q9Y5B9 VAR_086187 p.Asn571Ser US - Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum (NEDDFAC) [MIM:619480] SUPT16H Q9Y5B9 VAR_086188 p.Arg734Trp US - Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum (NEDDFAC) [MIM:619480] SUPT20H Q8NEM7 VAR_055798 p.Met154Val LB/B rs7324275 - SUPT20H Q8NEM7 VAR_055799 p.Thr773Met LB/B rs9469 - SUPT3H O75486 VAR_057000 p.Asp242Ala LB/B rs16872923 - SUPV3L1 Q8IYB8 VAR_037076 p.Pro30Thr LB/B rs34596380 - SUPV3L1 Q8IYB8 VAR_061214 p.Ser2Phe LB/B rs33998366 - SURF1 Q15526 VAR_007450 p.Gly124Glu LP/P rs28933402 Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) [MIM:220110] SURF1 Q15526 VAR_007451 p.Asp202His LB/B rs72619327 - SURF1 Q15526 VAR_007452 p.Ile246Thr LP/P - Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) [MIM:220110] SURF1 Q15526 VAR_015258 p.Gly124Arg LP/P rs782033035 Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) [MIM:220110] SURF1 Q15526 VAR_015259 p.Tyr274Asp LP/P rs121918658 Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) [MIM:220110] SURF1 Q15526 VAR_036340 p.Asn89Lys US - A breast cancer sample SURF1 Q15526 VAR_068648 p.Ala56Gly LP/P rs116779216 Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) [MIM:220110] SURF1 Q15526 VAR_068649 p.Leu90Pro LP/P rs782024654 Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) [MIM:220110] SURF1 Q15526 VAR_068650 p.Val177Gly LP/P - Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) [MIM:220110] SURF1 Q15526 VAR_068651 p.Gly205Glu LP/P - Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) [MIM:220110] SURF1 Q15526 VAR_068652 p.Met235Thr LP/P rs1319811735 Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) [MIM:220110] SURF1 Q15526 VAR_068653 p.Ala248Asp LP/P - Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) [MIM:220110] SURF1 Q15526 VAR_068654 p.Gly257Arg LP/P - Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) [MIM:220110] SURF1 Q15526 VAR_068682 p.Trp227Arg US rs398122806 Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) [MIM:220110] SURF1 Q15526 VAR_076315 p.Arg192Trp US rs782190413 Charcot-Marie-Tooth disease 4K (CMT4K) [MIM:616684] SURF1 Q15526 VAR_083394 p.Asn178Tyr US rs587753385 Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) [MIM:220110] SURF1 Q15526 VAR_083395 p.Gly257Val LP/P rs1030336089 Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) [MIM:220110] SURF1 Q15526 VAR_083396 p.Pro258Ser US - Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) [MIM:220110] SURF2 Q15527 VAR_014785 p.Gly213Ser LB/B rs12763 - SURF2 Q15527 VAR_057001 p.Arg221Gln LB/B rs7863933 - SURF6 O75683 VAR_014532 p.Arg163Trp LB/B rs886090 - SURF6 O75683 VAR_014533 p.Thr175Met LB/B rs886089 - SURF6 O75683 VAR_014534 p.Thr311Met LB/B rs1800867 - SURF6 O75683 VAR_052199 p.Arg193Gln LB/B rs34657219 - SURF6 O75683 VAR_052200 p.Asn201His LB/B rs35316446 - SUSD1 Q6UWL2 VAR_027743 p.His524Gln LB/B rs17855713 - SUSD1 Q6UWL2 VAR_051390 p.Gln201Glu LB/B rs17829458 - SUSD2 Q9UGT4 VAR_027416 p.Arg59Gln LB/B rs56289213 - SUSD2 Q9UGT4 VAR_027417 p.Ser110Thr LB/B rs9680526 - SUSD2 Q9UGT4 VAR_027418 p.Asn466Ser LB/B rs8141797 - SUSD3 Q96L08 VAR_027744 p.Lys136Glu LB/B rs1131773 - SUSD3 Q96L08 VAR_035663 p.Ser140Thr US - A breast cancer sample SUSD5 O60279 VAR_030217 p.Leu52Phe LB/B rs9637517 - SUSD5 O60279 VAR_030218 p.Arg228Lys LB/B rs9872477 - SUSD5 O60279 VAR_051391 p.Phe40Leu LB/B rs9637517 - SUSD5 O60279 VAR_051392 p.Arg216Lys LB/B rs9872477 - SUSD5 O60279 VAR_051393 p.Glu378Asp LB/B rs6810039 - SUV39H2 Q9H5I1 VAR_036344 p.Asp383His US - A breast cancer sample SUZ12 Q15022 VAR_028100 p.Asn216Ile LB/B rs17339444 - SUZ12 Q15022 VAR_078318 p.Glu610Val LP/P rs1131692177 Imagawa-Matsumoto syndrome (IMMAS) [MIM:618786] SUZ12 Q15022 VAR_083817 p.Arg535Gln US - Imagawa-Matsumoto syndrome (IMMAS) [MIM:618786] SUZ12 Q15022 VAR_083818 p.Gln599His LP/P rs1567840381 Imagawa-Matsumoto syndrome (IMMAS) [MIM:618786] SUZ12 Q15022 VAR_083819 p.Phe603Leu LP/P rs1598192095 Imagawa-Matsumoto syndrome (IMMAS) [MIM:618786] SV2C Q496J9 VAR_050303 p.Thr482Ser LB/B rs2270927 - SV2C Q496J9 VAR_050304 p.Asp543Asn LB/B rs31244 - SVEP1 Q4LDE5 VAR_039153 p.Gly332Ala LB/B rs3818764 - SVEP1 Q4LDE5 VAR_039154 p.Gly428Ser LB/B rs10980419 - SVEP1 Q4LDE5 VAR_039155 p.Val507Ile LB/B rs872665 - SVEP1 Q4LDE5 VAR_039156 p.Gln581His LB/B rs10817033 - SVEP1 Q4LDE5 VAR_039157 p.Ile637Val LB/B rs13286541 - SVEP1 Q4LDE5 VAR_039158 p.Lys899Arg LB/B rs10817025 - SVEP1 Q4LDE5 VAR_039159 p.Ile1157Val LB/B rs7038903 - SVEP1 Q4LDE5 VAR_039160 p.Leu1330Met LB/B rs10817021 - SVEP1 Q4LDE5 VAR_039161 p.Lys1416Gln LB/B rs1889323 - SVEP1 Q4LDE5 VAR_039162 p.Met1444Leu LB/B rs7863519 - SVEP1 Q4LDE5 VAR_039163 p.Leu1648Val LB/B rs7852962 - SVEP1 Q4LDE5 VAR_039164 p.Glu1810Ala LB/B rs2986671 - SVEP1 Q4LDE5 VAR_039165 p.Arg1953Lys LB/B rs17204832 - SVEP1 Q4LDE5 VAR_039166 p.Thr2607Ala LB/B rs3802433 - SVEP1 Q4LDE5 VAR_039167 p.Ala2750Val LB/B rs7030192 - SVEP1 Q4LDE5 VAR_039168 p.Ile2922Val LB/B rs16914996 - SVEP1 Q4LDE5 VAR_039169 p.Phe3161Ile LB/B rs3739451 - SVEP1 Q4LDE5 VAR_039170 p.Pro3230Thr LB/B rs16914992 - SVEP1 Q4LDE5 VAR_039171 p.Thr3559Met LB/B rs17204533 - SVIL O95425 VAR_020791 p.Val189Ala LB/B rs10160013 - SVIL O95425 VAR_020792 p.Pro1235Ala LB/B rs2368406 - SVIL O95425 VAR_024691 p.Ser1688Pro LB/B rs11007612 - SVIL O95425 VAR_057467 p.Val1041Leu LB/B rs7070135 - SVIL O95425 VAR_057468 p.Ile2005Val LB/B rs7921306 - SVIL O95425 VAR_057469 p.Ala2041Val LB/B rs17694739 - SVIL O95425 VAR_058308 p.Val422Ile LB/B rs1247696 - SVOPL Q8N434 VAR_033188 p.Phe385Cys LB/B rs2305816 - SWAP70 Q9UH65 VAR_026717 p.Gln505Glu LB/B rs415895 - SWAP70 Q9UH65 VAR_059548 p.Arg230Gly LB/B rs397686 - SWSAP1 Q6NVH7 VAR_033151 p.Asp171Gly LB/B rs317926 - SWT1 Q5T5J6 VAR_027652 p.Ile148Val LB/B rs10489579 - SWT1 Q5T5J6 VAR_027653 p.His536Arg LB/B rs6698109 - SWT1 Q5T5J6 VAR_027654 p.Leu638Phe LB/B rs2295950 - SWT1 Q5T5J6 VAR_027655 p.Asn821Asp LB/B rs12041704 - SYCE1 Q8N0S2 VAR_029385 p.Glu132Asp LB/B rs8181357 - SYCE1 Q8N0S2 VAR_029386 p.Lys183Arg LB/B rs3747881 - SYCE1 Q8N0S2 VAR_029387 p.Pro317Ala LB/B rs1313001903 - SYCE3 A1L190 VAR_060126 p.Leu88Pro LB/B rs6009989 - SYCN Q0VAF6 VAR_033284 p.Leu111Met LB/B rs2082416 - SYCP1 Q15431 VAR_046993 p.Glu78Asp LB/B rs12563933 - SYCP1 Q15431 VAR_046994 p.Glu805Asp LB/B rs1053812 - SYCP2 Q9BX26 VAR_014115 p.Pro523Leu LB/B rs1359836 - SYCP2 Q9BX26 VAR_054059 p.Thr353Lys LB/B rs13039338 - SYCP2 Q9BX26 VAR_054060 p.Thr751Ile LB/B rs6071006 - SYCP2 Q9BX26 VAR_054061 p.Val1155Ala LB/B rs6128714 - SYCP2L Q5T4T6 VAR_043169 p.Val94Ile LB/B rs6456746 - SYCP2L Q5T4T6 VAR_043170 p.Asn647Asp LB/B rs3798751 - SYCP2L Q5T4T6 VAR_043171 p.Pro672Ser LB/B rs1225746 - SYCP2L Q5T4T6 VAR_069417 p.Arg291Trp LB/B rs905595849 - SYDE1 Q6ZW31 VAR_062661 p.Arg408Gln US rs772906202 A pancreatic ductal adenocarcinoma sample SYDE2 Q5VT97 VAR_037419 p.Ile484Met LB/B rs12090608 - SYDE2 Q5VT97 VAR_037420 p.Val569Ile LB/B rs817443 - SYDE2 Q5VT97 VAR_037421 p.Val1157Ile LB/B rs709786 - SYF2 O95926 VAR_062162 p.Ala89Val LB/B rs35324907 - SYK P43405 VAR_033838 p.Arg45His LB/B rs16906862 - SYK P43405 VAR_085995 p.Pro342Thr LP/P - Immunodeficiency 82 with systemic inflammation (IMD82) [MIM:619381] SYK P43405 VAR_085996 p.Ala353Thr LP/P - Immunodeficiency 82 with systemic inflammation (IMD82) [MIM:619381] SYK P43405 VAR_085997 p.Met450Ile LP/P - Immunodeficiency 82 with systemic inflammation (IMD82) [MIM:619381] SYK P43405 VAR_085998 p.Ser550Phe LP/P - Immunodeficiency 82 with systemic inflammation (IMD82) [MIM:619381] SYK P43405 VAR_085999 p.Ser550Tyr LP/P - Immunodeficiency 82 with systemic inflammation (IMD82) [MIM:619381] SYN1 P17600 VAR_086821 p.Ser79Trp LP/P rs2057941303 Intellectual developmental disorder, X-linked 50 (XLID50) [MIM:300115] SYN1 P17600 VAR_086822 p.Ala550Thr US rs397514680 Intellectual developmental disorder, X-linked 50 (XLID50) [MIM:300115] SYN1 P17600 VAR_086824 p.Thr567Ala LB/B rs200533370 - SYN2 Q92777 VAR_059825 p.Thr506Ala LB/B rs794999 - SYN3 O14994 VAR_068906 p.Ser470Asn LB/B rs5998526 - SYNDIG1 Q9H7V2 VAR_053733 p.Gly54Arg LB/B rs6083553 - SYNE1 Q8NF91 VAR_015548 p.Gly8323Ala LB/B rs2252755 - SYNE1 Q8NF91 VAR_036250 p.Val3671Met US rs567753957 A colorectal cancer sample SYNE1 Q8NF91 VAR_036251 p.Glu4210Asp US - A colorectal cancer sample SYNE1 Q8NF91 VAR_036252 p.Arg4223His US rs140492158 A colorectal cancer sample SYNE1 Q8NF91 VAR_036253 p.Leu5507Arg US - A colorectal cancer sample SYNE1 Q8NF91 VAR_036254 p.Arg8468His US rs143049227 A colorectal cancer sample SYNE1 Q8NF91 VAR_056211 p.Gln655Arg US rs9397509 - SYNE1 Q8NF91 VAR_056212 p.Leu885Val LB/B rs17082709 - SYNE1 Q8NF91 VAR_056213 p.Val1035Ala LB/B rs214976 - SYNE1 Q8NF91 VAR_056214 p.Ser2030Gly LB/B rs35763277 - SYNE1 Q8NF91 VAR_056215 p.Ala2795Val LB/B rs214950 - SYNE1 Q8NF91 VAR_056216 p.Lys3874Thr LB/B rs13210127 - SYNE1 Q8NF91 VAR_056217 p.Ser3954Thr LB/B rs7775119 - SYNE1 Q8NF91 VAR_056218 p.Glu4060Asp LB/B rs4645434 - SYNE1 Q8NF91 VAR_056219 p.Lys4121Asn LB/B rs28385621 - SYNE1 Q8NF91 VAR_056220 p.Lys4121Arg LB/B rs9479297 - SYNE1 Q8NF91 VAR_056221 p.Glu4203Lys LB/B rs2130262 - SYNE1 Q8NF91 VAR_056222 p.Val4546Ile LB/B rs4870093 - SYNE1 Q8NF91 VAR_056223 p.Ser4596Thr LB/B rs6911096 - SYNE1 Q8NF91 VAR_056224 p.Leu4944Met LB/B rs2306916 - SYNE1 Q8NF91 VAR_056225 p.Leu5015Met LB/B rs2306916 - SYNE1 Q8NF91 VAR_056226 p.Met5377Leu LB/B rs35987150 - SYNE1 Q8NF91 VAR_056227 p.Thr5426Met LB/B rs2306914 - SYNE1 Q8NF91 VAR_056228 p.Met6566Ile LB/B rs35654757 - SYNE1 Q8NF91 VAR_056229 p.Thr6664Ile LB/B rs35079654 - SYNE1 Q8NF91 VAR_056230 p.Gln6951His LB/B rs3945783 - SYNE1 Q8NF91 VAR_056231 p.Phe7302Val LB/B rs2147377 - SYNE1 Q8NF91 VAR_056232 p.Ser7506Gly LB/B rs35763277 - SYNE1 Q8NF91 VAR_056233 p.Asn8161His LB/B rs36215251 - SYNE1 Q8NF91 VAR_056234 p.Ala8168Ser LB/B rs17082236 - SYNE1 Q8NF91 VAR_056235 p.Thr8687Ile LB/B rs35591210 - SYNE1 Q8NF91 VAR_056236 p.Leu8741Met LB/B rs2295190 - SYNE1 Q8NF91 VAR_062974 p.Arg8095His LP/P rs119103246 Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) [MIM:612998] SYNE1 Q8NF91 VAR_062975 p.Val8387Leu US rs119103247 Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) [MIM:612998] SYNE1 Q8NF91 VAR_062976 p.Glu8461Lys LP/P rs119103248 Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) [MIM:612998] SYNE1 Q8NF91 VAR_070561 p.Ala3088Thr US rs398123005 - SYNE1 Q8NF91 VAR_070562 p.Leu3892Ser US rs180727534 - SYNE1 Q8NF91 VAR_074190 p.Arg1062Ser LB/B - - SYNE2 Q8WXH0 VAR_027947 p.Pro8Ser LB/B rs2275017 - SYNE2 Q8WXH0 VAR_027948 p.Ile574Thr LB/B rs9944035 - SYNE2 Q8WXH0 VAR_027949 p.Asn2358Ser LB/B rs4027404 - SYNE2 Q8WXH0 VAR_027950 p.Ala2394Thr LB/B rs4027405 - SYNE2 Q8WXH0 VAR_027951 p.Gly2801Ser LB/B rs1890908 - SYNE2 Q8WXH0 VAR_036255 p.Val5940Ile US - A breast cancer sample SYNE2 Q8WXH0 VAR_036256 p.Tyr6200Cys US - A breast cancer sample SYNE2 Q8WXH0 VAR_050238 p.Ser432Arg LB/B rs35554503 - SYNE2 Q8WXH0 VAR_050239 p.Arg1393Trp LB/B rs17751301 - SYNE2 Q8WXH0 VAR_050240 p.Met1969Thr LB/B rs4902264 - SYNE2 Q8WXH0 VAR_050241 p.Ala2284Val LB/B rs4027402 - SYNE2 Q8WXH0 VAR_050242 p.Ala2347Glu LB/B rs34625768 - SYNE2 Q8WXH0 VAR_050243 p.Ser2359Gly LB/B rs7157465 - SYNE2 Q8WXH0 VAR_050244 p.Ser2359Asn LB/B rs4027404 - SYNE2 Q8WXH0 VAR_050245 p.Ala2395Thr LB/B rs4027405 - SYNE2 Q8WXH0 VAR_050246 p.Val2490Gly LB/B rs34393543 - SYNE2 Q8WXH0 VAR_050247 p.Ile2564Val LB/B rs11628107 - SYNE2 Q8WXH0 VAR_050248 p.Ser2802Gly LB/B rs1890908 - SYNE2 Q8WXH0 VAR_050249 p.Ile2942Val LB/B rs3829767 - SYNE2 Q8WXH0 VAR_050250 p.Glu3026Asp LB/B rs34843668 - SYNE2 Q8WXH0 VAR_050251 p.Asn3130Ser LB/B rs11847087 - SYNE2 Q8WXH0 VAR_050252 p.Asp3253His LB/B rs8010911 - SYNE2 Q8WXH0 VAR_050253 p.His3309Arg LB/B rs8010699 - SYNE2 Q8WXH0 VAR_050254 p.Lys3523Gln LB/B rs35203186 - SYNE2 Q8WXH0 VAR_050255 p.Asn3982His LB/B rs10137972 - SYNE2 Q8WXH0 VAR_050256 p.Arg4041His LB/B rs17101661 - SYNE2 Q8WXH0 VAR_050257 p.Pro4912Ala LB/B rs17766354 - SYNE2 Q8WXH0 VAR_050258 p.Glu4913Lys LB/B rs12881815 - SYNE2 Q8WXH0 VAR_050259 p.His5086Tyr LB/B rs2039475 - SYNE2 Q8WXH0 VAR_050260 p.Leu5186Met LB/B rs10151658 - SYNE2 Q8WXH0 VAR_050261 p.Asp5547Asn LB/B rs17179194 - SYNE2 Q8WXH0 VAR_050262 p.Ala6155Val LB/B rs2275014 - SYNE2 Q8WXH0 VAR_050263 p.Lys6681Glu LB/B rs35315070 - SYNE2 Q8WXH0 VAR_050264 p.Arg6697Trp LB/B rs35700578 - SYNE2 Q8WXH0 VAR_062977 p.Thr6211Met LP/P rs36215895 Emery-Dreifuss muscular dystrophy 5, autosomal dominant (EDMD5) [MIM:612999] SYNE3 Q6ZMZ3 VAR_031231 p.Thr668Met LB/B rs9671369 - SYNE3 Q6ZMZ3 VAR_031232 p.Arg864His LB/B rs17092216 - SYNE3 Q6ZMZ3 VAR_031233 p.Ala923Val LB/B rs12434757 - SYNE3 Q6ZMZ3 VAR_031234 p.Ile946Val LB/B rs10130647 - SYNE4 Q8N205 VAR_035284 p.Ser224Leu LB/B rs34818970 - SYNE4 Q8N205 VAR_035285 p.Gln278His LB/B rs2285422 - SYNGAP1 Q96PV0 VAR_065078 p.Asp201Glu LB/B rs768682743 - SYNGAP1 Q96PV0 VAR_065079 p.Arg749Gln LB/B - - SYNGAP1 Q96PV0 VAR_065080 p.Thr790Asn LB/B rs552867155 - SYNGAP1 Q96PV0 VAR_065081 p.Gly991Arg LB/B rs145472959 - SYNGAP1 Q96PV0 VAR_065082 p.Ile1115Thr LB/B rs191549504 - SYNGAP1 Q96PV0 VAR_065083 p.Pro1283Leu LB/B rs1396355432 - SYNGAP1 Q96PV0 VAR_065084 p.Thr1310Met LB/B rs796430835 - SYNGAP1 Q96PV0 VAR_069232 p.Trp362Arg LP/P - Intellectual developmental disorder, autosomal dominant 5 (MRD5) [MIM:612621] SYNGAP1 Q96PV0 VAR_069233 p.Pro562Leu LP/P rs397514670 Intellectual developmental disorder, autosomal dominant 5 (MRD5) [MIM:612621] SYNGAP1 Q96PV0 VAR_078233 p.Arg170Gln LB/B rs1057519546 - SYNGAP1 Q96PV0 VAR_078234 p.Ala195Pro LB/B rs1057519545 - SYNGR1 O43759 VAR_060490 p.Asp222Gly US - - SYNGR4 O95473 VAR_052245 p.Arg27Trp LB/B rs919804 - SYNJ1 O43426 VAR_047308 p.Lys295Arg LB/B rs2254562 - SYNJ1 O43426 VAR_047309 p.Val1366Ala LB/B rs9980589 - SYNJ1 O43426 VAR_049603 p.Pro1547Leu LB/B rs2230767 - SYNJ1 O43426 VAR_070905 p.Arg219Gln LP/P rs398122403 Parkinson disease 20, early-onset (PARK20) [MIM:615530] SYNJ1 O43426 VAR_070906 p.Ser1383Arg US rs769099271 Parkinson disease 20, early-onset (PARK20) [MIM:615530] SYNJ1 O43426 VAR_078803 p.Arg420Pro LP/P rs1060499619 Parkinson disease 20, early-onset (PARK20) [MIM:615530] SYNJ1 O43426 VAR_078804 p.Tyr849Cys LP/P rs1057524877 Developmental and epileptic encephalopathy 53 (DEE53) [MIM:617389] SYNJ1 O43426 VAR_078805 p.Met981Ile LP/P rs115683257 Developmental and epileptic encephalopathy 53 (DEE53) [MIM:617389] SYNJ1 O43426 VAR_078806 p.Tyr1018Ser LP/P - Developmental and epileptic encephalopathy 53 (DEE53) [MIM:617389] SYNJ2 O15056 VAR_024507 p.Glu1468Gly LB/B rs2502601 - SYNJ2BP P57105 VAR_051394 p.Val9Ile LB/B rs4356408 - SYNM O15061 VAR_012295 p.Val272Ala LB/B rs2305445 - SYNM O15061 VAR_012296 p.Val330Ile LB/B rs5030691 - SYNM O15061 VAR_012297 p.Arg338Trp LB/B - - SYNM O15061 VAR_012298 p.Pro567Leu LB/B rs3743244 - SYNM O15061 VAR_012299 p.Glu612Ala LB/B rs5030692 - SYNM O15061 VAR_012300 p.Pro761Leu LB/B rs3743247 - SYNM O15061 VAR_012301 p.Arg946Trp LB/B rs5030694 - SYNM O15061 VAR_012302 p.Gln976Arg LB/B rs5030695 - SYNM O15061 VAR_012303 p.Pro1059Leu LB/B rs5030697 - SYNM O15061 VAR_012304 p.Arg1067Pro LB/B rs5030698 - SYNM O15061 VAR_012305 p.Ser1077Leu LB/B rs5030699 - SYNM O15061 VAR_012306 p.Glu1386Gly LB/B rs2292288 - SYNM O15061 VAR_012307 p.Phe1462Cys LB/B rs2292287 - SYNM O15061 VAR_059378 p.Arg355Trp LB/B rs3743242 - SYNM O15061 VAR_059379 p.Gly462Ser LB/B rs3134595 - SYNM O15061 VAR_059380 p.Gly1130Ser LB/B rs9920074 - SYNM O15061 VAR_059381 p.Gly1345Ala LB/B rs7167599 - SYNPO2 Q9UMS6 VAR_019670 p.Thr573Ala LB/B rs7698598 - SYNPO2 Q9UMS6 VAR_057256 p.Gly154Ala LB/B rs12645298 - SYNPO2 Q9UMS6 VAR_057257 p.Gln174His LB/B rs17263971 - SYNPO2 Q9UMS6 VAR_057258 p.Ala179Thr LB/B rs17050152 - SYNPO2L Q9H987 VAR_019671 p.Pro707Leu LB/B rs3812629 - SYNPO2L Q9H987 VAR_047065 p.Ser833Tyr LB/B rs34163229 - SYNPO2L Q9H987 VAR_061835 p.Pro508His LB/B rs57006992 - SYNRG Q9UMZ2 VAR_051395 p.Ala40Gly LB/B rs12944821 - SYNRG Q9UMZ2 VAR_051396 p.Thr222Ala LB/B rs12602536 - SYNRG Q9UMZ2 VAR_080768 p.Arg1183His US rs370465279 - SYP P08247 VAR_062983 p.Leu2Gln LB/B rs200470034 - SYP P08247 VAR_062984 p.Ser158Leu LB/B - - SYP P08247 VAR_062985 p.Asp166Asn LB/B - - SYP P08247 VAR_062986 p.Gly217Arg LP/P rs137852561 Intellectual developmental disorder, X-linked 96 (XLID96) [MIM:300802] SYP P08247 VAR_062987 p.Asp248Asn LB/B rs782086106 - SYP P08247 VAR_062988 p.Asp277Glu US - Intellectual developmental disorder, X-linked 96 (XLID96) [MIM:300802] SYP P08247 VAR_062989 p.Gly293Ser US rs139475570 Intellectual developmental disorder, X-linked 96 (XLID96) [MIM:300802] SYP P08247 VAR_079223 p.Glu72Gln LB/B - - SYT1 P21579 VAR_072911 p.Ile368Thr LP/P rs1135402761 Baker-Gordon syndrome (BAGOS) [MIM:618218] SYT1 P21579 VAR_081536 p.Met303Lys LP/P - Baker-Gordon syndrome (BAGOS) [MIM:618218] SYT1 P21579 VAR_081537 p.Asp304Gly LP/P - Baker-Gordon syndrome (BAGOS) [MIM:618218] SYT1 P21579 VAR_081538 p.Asp366Glu LP/P - Baker-Gordon syndrome (BAGOS) [MIM:618218] SYT1 P21579 VAR_081539 p.Asn371Lys LP/P - Baker-Gordon syndrome (BAGOS) [MIM:618218] SYT10 Q6XYQ8 VAR_034529 p.Thr420Ser LB/B rs35190376 - SYT10 Q6XYQ8 VAR_034530 p.His488Pro LB/B rs34190017 - SYT10 Q6XYQ8 VAR_034531 p.Ala505Val LB/B rs34361405 - SYT10 Q6XYQ8 VAR_059826 p.Ser172Ile LB/B rs12317722 - SYT11 Q9BT88 VAR_047656 p.Gln48His LB/B rs822522 - SYT11 Q9BT88 VAR_047657 p.Gly231Val LB/B rs17853892 - SYT12 Q8IV01 VAR_034532 p.Asn170His LB/B rs11227664 - SYT14 Q8NB59 VAR_066663 p.Gly138Glu LB/B rs759296305 - SYT14 Q8NB59 VAR_066664 p.Gly439Asp LP/P rs387907033 Spinocerebellar ataxia, autosomal recessive, 11 (SCAR11) [MIM:614229] SYT14P1 Q58G82 VAR_038691 p.Thr97Met LB/B rs3819257 - SYT16 Q17RD7 VAR_028930 p.Val10Ala LB/B rs8019076 - SYT16 Q17RD7 VAR_028931 p.Arg131Leu LB/B rs17099370 - SYT2 Q8N9I0 VAR_072578 p.Asp307Ala LP/P rs587777781 Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant (CMS7A) [MIM:616040] SYT2 Q8N9I0 VAR_072579 p.Pro308Leu LP/P rs587777782 Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant (CMS7A) [MIM:616040] SYT2 Q8N9I0 VAR_086140 p.Leu365Pro LP/P - Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant (CMS7A) [MIM:616040] SYT3 Q9BQG1 VAR_036389 p.Ser474Phe US - A breast cancer sample SYT4 Q9H2B2 VAR_052239 p.Ser142Asn LB/B rs16977447 - SYT5 O00445 VAR_034528 p.Arg111Gln LB/B rs11542503 - SYT5 O00445 VAR_052240 p.Glu4Asp LB/B rs2301279 - SYT7 O43581 VAR_052241 p.Ile332Asn LB/B rs407740 - SYT8 Q8NBV8 VAR_046952 p.Cys106Arg LB/B rs564271 - SYT8 Q8NBV8 VAR_046953 p.Phe115Ile LB/B rs34141314 - SYT8 Q8NBV8 VAR_061834 p.His3Gln LB/B rs57344881 - SYT9 Q86SS6 VAR_036390 p.Asp445Asn US - A colorectal cancer sample SYT9 Q86SS6 VAR_065760 p.Val154Met LB/B rs78477754 - SYT9 Q86SS6 VAR_065761 p.Ile238Val LB/B rs1001166978 - SYT9 Q86SS6 VAR_065762 p.Leu353Val LB/B rs117876446 - SYTL3 Q4VX76 VAR_037137 p.Pro414Ser LB/B rs901363 - SYTL3 Q4VX76 VAR_037138 p.Val540Ile LB/B rs2291388 - SYTL3 Q4VX76 VAR_037139 p.Leu587Gln LB/B rs3123101 - SYTL4 Q96C24 VAR_016076 p.Ile420Val LB/B rs2022039 - SYTL5 Q8TDW5 VAR_024601 p.Ile275Val LB/B rs4827331 - SYTL5 Q8TDW5 VAR_061753 p.Arg302Cys LB/B rs57226394 - SZT2 Q5T011 VAR_078574 p.Ser499Ile LP/P rs886041034 Developmental and epileptic encephalopathy 18 (DEE18) [MIM:615476] TAAR1 Q96RJ0 VAR_049445 p.Arg23Cys LB/B rs8192618 - TAAR1 Q96RJ0 VAR_049446 p.Thr252Ala LB/B rs6926857 - TAAR5 O14804 VAR_055923 p.Thr272Met LB/B rs34746740 - TAAR5 O14804 VAR_055924 p.Arg330Cys LB/B rs35839363 - TAAR6 Q96RI8 VAR_019794 p.Ile37Thr LB/B rs17061399 - TAAR6 Q96RI8 VAR_019795 p.Gly165Ser LB/B rs17061401 - TAAR6 Q96RI8 VAR_019796 p.Tyr173Cys LB/B rs17061404 - TAAR6 Q96RI8 VAR_019797 p.Ala228Val LB/B rs17061409 - TAAR6 Q96RI8 VAR_019798 p.Val265Ile LB/B rs8192624 - TAAR6 Q96RI8 VAR_019799 p.Cys291Tyr LB/B rs8192625 - TAAR6 Q96RI8 VAR_019800 p.Val326Ile LB/B rs17061419 - TAAR6 Q96RI8 VAR_061227 p.Tyr99Cys LB/B rs41298395 - TAAR8 Q969N4 VAR_049447 p.Ser153Asn LB/B rs8192626 - TAAR8 Q969N4 VAR_049448 p.Asp328Ala LB/B rs8192627 - TAAR8 Q969N4 VAR_066638 p.Val211Asp LB/B rs187426282 - TAAR9 Q96RI9 VAR_049449 p.Ala278Thr LB/B rs9389004 - TAB1 Q15750 VAR_039271 p.Asp224Glu LB/B rs17001096 - TAB2 Q9NYJ8 VAR_063774 p.Pro208Ser LP/P rs267607101 Congenital heart defects, multiple types, 2 (CHTD2) [MIM:614980] TAB2 Q9NYJ8 VAR_063775 p.Gln230Lys LP/P rs267607100 Congenital heart defects, multiple types, 2 (CHTD2) [MIM:614980] TAB2 Q9NYJ8 VAR_077348 p.Glu569Lys US rs886039238 - TAB3 Q8N5C8 VAR_055294 p.Arg394Trp LB/B rs5927629 - TAC3 Q9UHF0 VAR_069176 p.Met90Thr LP/P rs121918123 Hypogonadotropic hypogonadism 10 with or without anosmia (HH10) [MIM:614839] TAC3 Q9UHF0 VAR_069969 p.Arg80Ser LP/P rs727505372 Hypogonadotropic hypogonadism 10 with or without anosmia (HH10) [MIM:614839] TACC1 O75410 VAR_053703 p.Pro187Leu LB/B rs34235313 - TACC1 O75410 VAR_053704 p.Ile243Thr LB/B rs6980553 - TACC1 O75410 VAR_053705 p.Glu255Gly LB/B rs10107016 - TACC2 O95359 VAR_020478 p.Asn2102Ser LB/B rs3750843 - TACC2 O95359 VAR_020479 p.Val2197Ala LB/B rs2295873 - TACC2 O95359 VAR_020480 p.Leu2261His LB/B rs2295876 - TACC2 O95359 VAR_020481 p.Val2718Ile LB/B rs2295878 - TACC2 O95359 VAR_020482 p.Ala2732Thr LB/B rs2295879 - TACC2 O95359 VAR_029803 p.Ile2078Thr LB/B rs7083331 - TACC2 O95359 VAR_029804 p.Ala2210Val LB/B rs2295874 - TACC2 O95359 VAR_029805 p.Gln2900Lys LB/B rs1063627 - TACC2 O95359 VAR_036381 p.Leu798Val US - A breast cancer sample TACC2 O95359 VAR_036382 p.Ala1347Ser US - A breast cancer sample TACC2 O95359 VAR_053706 p.Val170Ile LB/B rs11200385 - TACC2 O95359 VAR_053707 p.Leu830Phe LB/B rs10887063 - TACC2 O95359 VAR_053708 p.Trp1103Arg LB/B rs7073433 - TACC2 O95359 VAR_053709 p.Ala1425Thr LB/B rs4752642 - TACC2 O95359 VAR_053710 p.Pro1492Leu LB/B rs7920896 - TACC2 O95359 VAR_053711 p.Glu1916Lys LB/B rs12765679 - TACC2 O95359 VAR_053712 p.Pro2216Leu LB/B rs2295875 - TACC2 O95359 VAR_053713 p.Glu2271Asp LB/B rs11200483 - TACC3 Q9Y6A5 VAR_053714 p.Glu143Lys LB/B rs34205238 - TACC3 Q9Y6A5 VAR_053715 p.Cys275Tyr LB/B rs17132047 - TACC3 Q9Y6A5 VAR_053716 p.Gly287Ser LB/B rs1063743 - TACC3 Q9Y6A5 VAR_053717 p.Gly514Glu LB/B rs17680881 - TACO1 Q9BSH4 VAR_052934 p.Gly145Ser LB/B rs35252424 - TACR1 P25103 VAR_026826 p.Tyr192His LB/B rs200685841 - TACR2 P21452 VAR_014680 p.Arg375His LB/B rs2229170 - TACR2 P21452 VAR_016159 p.Ile23Thr LB/B rs5030920 - TACR2 P21452 VAR_061221 p.Ala47Thr LB/B rs57500981 - TACR2 P21452 VAR_061222 p.Met245Lys LB/B rs55953810 - TACR2 P21452 VAR_061223 p.Thr363Ala LB/B rs57900755 - TACR2 P21452 VAR_061224 p.His395Arg LB/B rs58692969 - TACR3 P29371 VAR_049422 p.Lys286Arg LB/B rs2276973 - TACR3 P29371 VAR_049423 p.Ala449Thr LB/B rs17033889 - TACR3 P29371 VAR_069177 p.Gly93Asp LP/P rs121918124 Hypogonadotropic hypogonadism 11 with or without anosmia (HH11) [MIM:614840] TACR3 P29371 VAR_069178 p.Pro353Ser LP/P rs121918125 Hypogonadotropic hypogonadism 11 with or without anosmia (HH11) [MIM:614840] TACR3 P29371 VAR_069963 p.Arg364Gln LP/P rs150288991 Hypogonadotropic hypogonadism 11 with or without anosmia (HH11) [MIM:614840] TACR3 P29371 VAR_072976 p.Phe137Val LP/P - Hypogonadotropic hypogonadism 11 with or without anosmia (HH11) [MIM:614840] TACR3 P29371 VAR_072977 p.Met346Val LP/P rs200148989 Hypogonadotropic hypogonadism 11 with or without anosmia (HH11) [MIM:614840] TACSTD2 P09758 VAR_012451 p.Asp173Ala LB/B rs35075952 - TACSTD2 P09758 VAR_016981 p.Asp216Glu LB/B rs14008 - TACSTD2 P09758 VAR_051407 p.Glu147Asp LB/B rs1062964 - TADA1 Q96BN2 VAR_038352 p.Arg198Gln LB/B rs2272792 - TADA2A O75478 VAR_047466 p.Pro6Ser LB/B rs7211875 - TADA2A O75478 VAR_047467 p.Met115Val LB/B rs1054865 - TADA2A O75478 VAR_047468 p.Ile351Met LB/B rs2522969 - TAF1 P21675 VAR_020678 p.Leu290Val LB/B rs28382158 - TAF1 P21675 VAR_041930 p.Ala318Gly LB/B rs35317750 - TAF1 P21675 VAR_041931 p.Gly474Asp US - A colorectal adenocarcinoma sample TAF1 P21675 VAR_041932 p.Glu672Lys US - A metastatic melanoma sample TAF1 P21675 VAR_041933 p.Met712Ile US - A lung bronchoalveolar carcinoma sample TAF1 P21675 VAR_048433 p.Val1404Ile LB/B rs7050748 - TAF1 P21675 VAR_076394 p.Pro596Ser LP/P rs864321630 Intellectual developmental disorder, X-linked, syndromic 33 (MRXS33) [MIM:300966] TAF1 P21675 VAR_076395 p.Cys807Arg LP/P rs864321628 Intellectual developmental disorder, X-linked, syndromic 33 (MRXS33) [MIM:300966] TAF1 P21675 VAR_076396 p.Asp976His LP/P rs864321631 Intellectual developmental disorder, X-linked, syndromic 33 (MRXS33) [MIM:300966] TAF1 P21675 VAR_076397 p.Arg1246Trp LP/P rs864321629 Intellectual developmental disorder, X-linked, syndromic 33 (MRXS33) [MIM:300966] TAF1 P21675 VAR_076398 p.Ile1337Thr LP/P rs864321627 Intellectual developmental disorder, X-linked, syndromic 33 (MRXS33) [MIM:300966] TAF1 P21675 VAR_076399 p.Arg1452His US - Intellectual developmental disorder, X-linked, syndromic 33 (MRXS33) [MIM:300966] TAF1 P21675 VAR_076400 p.Asn1517His US - Intellectual developmental disorder, X-linked, syndromic 33 (MRXS33) [MIM:300966] TAF1 P21675 VAR_077838 p.Asn493Asp US rs200177996 - TAF1 P21675 VAR_077839 p.Arg1190Cys US rs1569301036 - TAF10 Q12962 VAR_013706 p.Ile92Thr LB/B rs3176311 - TAF11 Q15544 VAR_016333 p.Thr68Arg LB/B rs15922 - TAF11 Q15544 VAR_052261 p.Ser155Phe LB/B rs11537996 - TAF13 Q15543 VAR_079046 p.Leu31His LP/P rs1060505030 Intellectual developmental disorder, autosomal recessive 60 (MRT60) [MIM:617432] TAF13 Q15543 VAR_079047 p.Met40Lys LP/P rs1060505029 Intellectual developmental disorder, autosomal recessive 60 (MRT60) [MIM:617432] TAF1A Q15573 VAR_052253 p.Ile98Met LB/B rs17163271 - TAF1B Q53T94 VAR_029378 p.Ala6Ser LB/B rs2303914 - TAF1B Q53T94 VAR_029379 p.Val282Ile LB/B rs396190 - TAF1B Q53T94 VAR_029380 p.Thr351Ala LB/B rs1054565 - TAF1B Q53T94 VAR_029381 p.Glu462Asp LB/B rs1820965 - TAF1B Q53T94 VAR_029382 p.Thr487Met LB/B rs16867245 - TAF1B Q53T94 VAR_057260 p.Arg292His LB/B rs16867223 - TAF1C Q15572 VAR_023245 p.Ser304Phe LB/B rs4150145 - TAF1C Q15572 VAR_023246 p.Arg357His LB/B rs4150147 - TAF1C Q15572 VAR_023247 p.Ser387Leu LB/B rs4150151 - TAF1C Q15572 VAR_023248 p.His518Tyr LB/B rs4150165 - TAF1C Q15572 VAR_023249 p.Pro573Leu LB/B rs4150170 - TAF1C Q15572 VAR_023250 p.Leu575Met LB/B rs2230129 - TAF1C Q15572 VAR_023251 p.Ala591Gly LB/B rs4150172 - TAF1C Q15572 VAR_023252 p.Gly635Ser LB/B rs4150173 - TAF1C Q15572 VAR_023253 p.Thr791Met LB/B rs4150175 - TAF1C Q15572 VAR_023254 p.Pro793Leu LB/B rs2230131 - TAF1C Q15572 VAR_023255 p.Arg816His LB/B rs4150176 - TAF1C Q15572 VAR_057261 p.Gly523Arg LB/B rs4150167 - TAF1C Q15572 VAR_057262 p.Pro808Ser LB/B rs3743640 - TAF1C Q15572 VAR_058966 p.Cys91Tyr LB/B rs4782591 - TAF1L Q8IZX4 VAR_041934 p.Gly47Ala US - A lung small cell carcinoma sample TAF1L Q8IZX4 VAR_041935 p.Gln171Glu LB/B rs56352331 - TAF1L Q8IZX4 VAR_041936 p.Gly256Ala LB/B rs55991718 - TAF1L Q8IZX4 VAR_041937 p.Met371Val LB/B rs17219559 - TAF1L Q8IZX4 VAR_041938 p.Ile532Asn LB/B rs56128445 - TAF1L Q8IZX4 VAR_041939 p.Pro637Ser LB/B rs56157814 - TAF1L Q8IZX4 VAR_041940 p.Leu750Phe US - A lung adenocarcinoma sample TAF1L Q8IZX4 VAR_041941 p.Leu762Ile US - A lung adenocarcinoma sample TAF1L Q8IZX4 VAR_041942 p.Glu794Asp US - A lung adenocarcinoma sample TAF1L Q8IZX4 VAR_041943 p.Arg845Gln LB/B rs34787787 - TAF1L Q8IZX4 VAR_041944 p.Arg1016Cys LB/B rs35905429 - TAF1L Q8IZX4 VAR_041945 p.Lys1038Asn LB/B rs55767137 - TAF1L Q8IZX4 VAR_041946 p.Thr1169Ile LB/B rs55976674 - TAF1L Q8IZX4 VAR_041947 p.Val1312Leu LB/B rs55824107 - TAF1L Q8IZX4 VAR_041948 p.Arg1356Cys LB/B rs56107531 - TAF1L Q8IZX4 VAR_041949 p.Pro1389Ser LB/B rs56393725 - TAF1L Q8IZX4 VAR_041950 p.Ile1411Val LB/B rs34500740 - TAF1L Q8IZX4 VAR_041951 p.Ala1540Thr LB/B rs55782058 - TAF1L Q8IZX4 VAR_041952 p.His1549Tyr US rs1587670372 A glioblastoma multiforme sample TAF1L Q8IZX4 VAR_041953 p.Lys1731Asn LB/B rs34241003 - TAF1L Q8IZX4 VAR_041954 p.Pro1810Leu LB/B rs56342342 - TAF1L Q8IZX4 VAR_041955 p.His1824Gln US - A lung adenocarcinoma sample TAF1L Q8IZX4 VAR_048435 p.Ile1805Val LB/B rs16918393 - TAF2 Q6P1X5 VAR_027854 p.Pro8Leu LB/B rs17818842 - TAF2 Q6P1X5 VAR_027855 p.Ser447Thr LB/B rs9297605 - TAF2 Q6P1X5 VAR_027856 p.Ser1122Asn LB/B rs956749 - TAF2 Q6P1X5 VAR_027857 p.Thr1139Ala LB/B rs956748 - TAF2 Q6P1X5 VAR_057263 p.Glu686Lys LB/B rs34154779 - TAF2 Q6P1X5 VAR_070945 p.Thr186Arg US rs398124656 Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity (NEDFCF) [MIM:615599] TAF2 Q6P1X5 VAR_070946 p.Pro416His US rs398124655 Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity (NEDFCF) [MIM:615599] TAF2 Q6P1X5 VAR_070947 p.Trp649Arg LP/P rs398124645 Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity (NEDFCF) [MIM:615599] TAF3 Q5VWG9 VAR_052254 p.Ser349Thr LB/B rs17366712 - TAF3 Q5VWG9 VAR_052255 p.Asn442Ser LB/B rs4747647 - TAF3 Q5VWG9 VAR_052256 p.Val696Ala LB/B rs1244229 - TAF3 Q5VWG9 VAR_052257 p.Val696Leu LB/B rs10795583 - TAF4 O00268 VAR_052258 p.Pro651Leu LB/B rs6089604 - TAF4B Q92750 VAR_052259 p.Ile249Val LB/B rs16942219 - TAF4B Q92750 VAR_061836 p.Asn539Ser LB/B rs12963653 - TAF5 Q15542 VAR_018462 p.Ser130Ala LB/B rs10883859 - TAF6 P49848 VAR_014349 p.Cys36Ser LB/B rs4134897 - TAF6 P49848 VAR_077840 p.Arg46Cys LP/P rs727503778 Alazami-Yuan syndrome (ALYUS) [MIM:617126] TAF6 P49848 VAR_077841 p.Ile71Thr LP/P rs374993554 Alazami-Yuan syndrome (ALYUS) [MIM:617126] TAF7 Q15545 VAR_005629 p.Ser178Arg LB/B - - TAF7L Q5H9L4 VAR_036695 p.Leu34Pro LB/B rs5951328 - TAF7L Q5H9L4 VAR_036696 p.Glu61Lys LB/B rs147493489 - TAF7L Q5H9L4 VAR_036697 p.Ser308Gly LB/B rs35899692 - TAF7L Q5H9L4 VAR_036699 p.Arg458His LB/B rs41310729 - TAF7L Q5H9L4 VAR_086590 p.Asp136Gly US rs138089236 - TAF9 Q16594 VAR_016279 p.Thr6Met LB/B rs4252233 - TAF9 Q16594 VAR_052260 p.Gln210His LB/B rs11542580 - TAFAZZIN Q16635 VAR_014110 p.Arg94Ser LP/P rs104894942 Barth syndrome (BTHS) [MIM:302060] TAFAZZIN Q16635 VAR_014111 p.Cys118Arg LP/P rs104894937 Barth syndrome (BTHS) [MIM:302060] TAFAZZIN Q16635 VAR_014112 p.Gly167Arg LP/P rs132630277 Barth syndrome (BTHS) [MIM:302060] TAFAZZIN Q16635 VAR_068434 p.Gly210Arg LP/P rs387907218 Barth syndrome (BTHS) [MIM:302060] TAFAZZIN Q16635 VAR_084500 p.Arg57Leu LP/P - Barth syndrome (BTHS) [MIM:302060] TAFAZZIN Q16635 VAR_084501 p.His69Gln LP/P rs1557191125 Barth syndrome (BTHS) [MIM:302060] TAFAZZIN Q16635 VAR_084503 p.Ile179Asn LP/P - Barth syndrome (BTHS) [MIM:302060] TAFAZZIN Q16635 VAR_084504 p.Leu180Arg LP/P - Barth syndrome (BTHS) [MIM:302060] TAFAZZIN Q16635 VAR_084505 p.Leu182Pro LP/P - Barth syndrome (BTHS) [MIM:302060] TAFAZZIN Q16635 VAR_084506 p.His184Arg LP/P - Barth syndrome (BTHS) [MIM:302060] TAGAP Q8N103 VAR_049146 p.Gly346Asp LB/B rs35263580 - TAGLN Q01995 VAR_048670 p.Asn182Ser LB/B rs12284316 - TAGLN2 P37802 VAR_047903 p.Leu69Gln LB/B rs17849636 - TALDO1 P37837 VAR_086514 p.Arg192Cys LP/P - Transaldolase deficiency (TALDOD) [MIM:606003] TAMM41 Q96BW9 VAR_027276 p.Asn116Ser LB/B rs7641243 - TAMM41 Q96BW9 VAR_053649 p.Ile179Val LB/B rs11551661 - TAMM41 Q96BW9 VAR_087807 p.Ser86Pro US rs199871047 Combined oxidative phosphorylation deficiency 56 (COXPD56) [MIM:620139] TAMM41 Q96BW9 VAR_087808 p.Tyr110Cys US - Combined oxidative phosphorylation deficiency 56 (COXPD56) [MIM:620139] TAMM41 Q96BW9 VAR_087809 p.Pro137Leu US rs775491404 Combined oxidative phosphorylation deficiency 56 (COXPD56) [MIM:620139] TANC1 Q9C0D5 VAR_038435 p.Asn251Ser LB/B rs12466551 - TANC1 Q9C0D5 VAR_038436 p.Gly1511Ser LB/B rs13421084 - TANC1 Q9C0D5 VAR_038437 p.Thr1573Ala LB/B rs4664277 - TANC1 Q9C0D5 VAR_061022 p.Pro30Ser LB/B rs34588551 - TANC2 Q9HCD6 VAR_069374 p.Arg760Cys LP/P rs1282488329 Intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS) [MIM:618906] TANC2 Q9HCD6 VAR_079853 p.Gly1280Val US - - TANC2 Q9HCD6 VAR_084328 p.Arg755His US rs775421108 Intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS) [MIM:618906] TANC2 Q9HCD6 VAR_084329 p.Ala794Val US rs2047545401 Intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS) [MIM:618906] TANC2 Q9HCD6 VAR_084330 p.Arg961Gln US rs374131489 Intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS) [MIM:618906] TANC2 Q9HCD6 VAR_084334 p.His1689Arg US rs2049010059 Intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS) [MIM:618906] TANGO2 Q6ICL3 VAR_028742 p.Asp125Asn LB/B rs17855650 - TANGO2 Q6ICL3 VAR_028743 p.Glu200Lys LB/B rs17854107 - TANGO2 Q6ICL3 VAR_028744 p.Asp245Glu LB/B rs16982614 - TANGO2 Q6ICL3 VAR_076912 p.Gly154Arg LP/P rs752298579 Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) [MIM:616878] TANGO2 Q6ICL3 VAR_085628 p.Leu20Pro LP/P - Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) [MIM:616878] TANGO2 Q6ICL3 VAR_085629 p.Leu20Arg LP/P rs1191958022 Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) [MIM:616878] TANGO2 Q6ICL3 VAR_085630 p.Arg26Lys US rs1057520382 Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) [MIM:616878] TANGO2 Q6ICL3 VAR_085632 p.Thr74Pro US rs1235314092 Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) [MIM:616878] TANGO2 Q6ICL3 VAR_085635 p.Gly89Cys US rs1313698326 Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) [MIM:616878] TANGO2 Q6ICL3 VAR_085639 p.Thr236Ile US - Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) [MIM:616878] TANK Q92844 VAR_051409 p.Gly292Arg LB/B rs10183668 - TANK Q92844 VAR_051410 p.Pro358Leu LB/B rs2229759 - TANK Q92844 VAR_051411 p.Arg394Gln LB/B rs3769969 - TAOK1 Q7L7X3 VAR_041204 p.Ala855Thr LB/B rs34151057 - TAOK1 Q7L7X3 VAR_086415 p.Glu17Gly LP/P - Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) [MIM:619575] TAOK1 Q7L7X3 VAR_086416 p.Ser111Phe LP/P rs2030976698 Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) [MIM:619575] TAOK1 Q7L7X3 VAR_086417 p.Arg150Ile LP/P - Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) [MIM:619575] TAOK1 Q7L7X3 VAR_086418 p.Leu167Arg LP/P - Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) [MIM:619575] TAOK1 Q7L7X3 VAR_086420 p.Met231Val US - Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) [MIM:619575] TAOK1 Q7L7X3 VAR_086421 p.Lys298Glu LP/P - Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) [MIM:619575] TAOK1 Q7L7X3 VAR_086422 p.Asp305Ala LP/P - Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) [MIM:619575] TAOK1 Q7L7X3 VAR_086423 p.Leu315Phe US - Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) [MIM:619575] TAOK1 Q7L7X3 VAR_086425 p.Leu548Pro LP/P - Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) [MIM:619575] TAOK3 Q9H2K8 VAR_023691 p.Ser47Asn LB/B rs428073 - TAOK3 Q9H2K8 VAR_041205 p.Pro20Thr US - A lung adenocarcinoma sample TAOK3 Q9H2K8 VAR_041206 p.Ser392Tyr US - A lung small cell carcinoma sample TAOK3 Q9H2K8 VAR_041207 p.Cys727Tyr LB/B rs55857273 - TAP1 Q03518 VAR_000092 p.Ile333Val LB/B rs1057141 - TAP1 Q03518 VAR_000093 p.Asp637Gly LB/B rs1135216 - TAP1 Q03518 VAR_013151 p.Ala370Val LB/B rs2127679 - TAP1 Q03518 VAR_013152 p.Val458Leu LB/B rs41550019 - TAP1 Q03518 VAR_013153 p.Val518Ile LB/B rs41561219 - TAP1 Q03518 VAR_013154 p.Arg648Gln LB/B rs1057149 - TAP1 Q03518 VAR_013173 p.Arg659Gln US rs121917702 A lung cancer cell line deficient in MHC class I presentation TAP1 Q03518 VAR_016801 p.Pro7Ser LB/B rs375389015 - TAP1 Q03518 VAR_016802 p.Gly17Arg LB/B rs57640466 - TAP1 Q03518 VAR_016803 p.Gly419Cys LB/B rs2228110 - TAP1 Q03518 VAR_047514 p.Gln708Arg LB/B rs1057149 - TAP1 Q03518 VAR_048137 p.Leu110Val LB/B rs2228108 - TAP1 Q03518 VAR_048138 p.Ser286Phe LB/B rs2228111 - TAP1 Q03518 VAR_060987 p.Val244Leu LB/B rs36229525 - TAP2 Q03519 VAR_000094 p.Val379Ile LB/B rs1800454 - TAP2 Q03519 VAR_000095 p.Ala565Thr LB/B rs2228396 - TAP2 Q03519 VAR_000096 p.Arg651Cys LB/B rs4148876 - TAP2 Q03519 VAR_000097 p.Thr665Ala LB/B rs241447 - TAP2 Q03519 VAR_014997 p.Ala374Thr LB/B rs111303994 - TAP2 Q03519 VAR_014998 p.Val467Ile LB/B rs150253319 - TAP2 Q03519 VAR_014999 p.Ala513Ser LB/B - - TAP2 Q03519 VAR_015000 p.Met577Val LB/B rs2228391 - TAP2 Q03519 VAR_036873 p.Arg56Lys LB/B rs17220192 - TAPBP O15533 VAR_010253 p.Thr260Arg LB/B rs2071888 - TAPBPL Q9BX59 VAR_033627 p.Gly151Arg LB/B rs7295376 - TAPBPL Q9BX59 VAR_056090 p.Thr334Met LB/B rs1045546 - TAPBPL Q9BX59 VAR_071757 p.Ala42Val LB/B rs2041385 - TAPBPL Q9BX59 VAR_071758 p.Met146Val LB/B rs2532501 - TAPBPL Q9BX59 VAR_071759 p.Thr165Ala LB/B rs2532500 - TAPBPL Q9BX59 VAR_071760 p.Ala169Val LB/B rs2041387 - TAPT1 Q6NXT6 VAR_042568 p.Glu465Lys LB/B rs35606284 - TAPT1 Q6NXT6 VAR_042569 p.Asn522Ser LB/B rs16893137 - TAPT1 Q6NXT6 VAR_076497 p.Asp353Val LP/P rs869312980 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG) [MIM:616897] TARBP1 Q13395 VAR_030101 p.Leu221Pro LB/B rs12082990 - TARBP1 Q13395 VAR_030102 p.Ala425Thr LB/B rs10910439 - TARBP1 Q13395 VAR_030103 p.Ser678Gly LB/B rs4920246 - TARBP1 Q13395 VAR_030104 p.Asn743Ser LB/B rs2273872 - TARBP1 Q13395 VAR_030105 p.His864Pro LB/B rs4272658 - TARBP1 Q13395 VAR_030106 p.Phe997Leu LB/B rs12135427 - TARBP1 Q13395 VAR_030107 p.Thr1038Ile LB/B rs3820602 - TARBP1 Q13395 VAR_030108 p.Ile1359Val LB/B rs3738616 - TARBP1 Q13395 VAR_030109 p.Ile1461Val LB/B rs2275654 - TARBP1 Q13395 VAR_061907 p.Asp513Gly LB/B rs35562024 - TARBP2 Q15633 VAR_046992 p.Ser251Phe LB/B rs1126500 - TARDBP Q13148 VAR_045656 p.Ala90Val LB/B rs80356715 - TARDBP Q13148 VAR_045657 p.Asp169Gly LP/P rs80356717 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045658 p.Gly287Ser LP/P rs80356719 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045659 p.Gly290Ala LP/P rs121908395 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045660 p.Gly294Ala LP/P rs80356721 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045661 p.Gly298Ser LP/P rs4884357 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045662 p.Ala315Thr LP/P rs80356726 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045663 p.Gln331Lys LP/P rs80356727 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045664 p.Met337Val LP/P rs80356730 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045665 p.Gly348Cys LP/P rs80356733 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045666 p.Arg361Ser LP/P rs80356735 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045667 p.Ala382Thr LP/P rs367543041 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045668 p.Asn390Asp LP/P rs80356741 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045669 p.Asn390Ser LP/P rs80356742 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058611 p.Asn267Ser LP/P rs80356718 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058612 p.Gly294Val LP/P rs80356721 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058613 p.Gly295Arg LP/P rs80356723 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058614 p.Gly295Ser LP/P rs80356723 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058615 p.Ser332Asn LP/P rs80356728 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058616 p.Gly335Asp LP/P rs80356729 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058617 p.Ser379Cys LP/P rs80356739 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058618 p.Ser379Pro LP/P rs80356738 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058619 p.Ser393Leu LP/P rs80356743 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_062767 p.Gln343Arg LP/P rs80356731 Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_067499 p.Gly357Arg LP/P - Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_067500 p.Arg361Thr LP/P - Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_083737 p.Ala321Val LP/P - Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_083738 p.Gly348Val LP/P - Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARM1 B6A8C7 VAR_063151 p.Ser37Pro LB/B rs17305269 - TARM1 B6A8C7 VAR_063152 p.His111Arg LB/B rs80087697 - TARM1 B6A8C7 VAR_063153 p.Arg258Trp LB/B rs77768804 - TARS1 P26639 VAR_034533 p.Gly21Asp LB/B rs34334786 - TARS1 P26639 VAR_083226 p.Leu227Pro LP/P - Trichothiodystrophy 7, non-photosensitive (TTD7) [MIM:618546] TARS1 P26639 VAR_083227 p.Lys276Glu LP/P - Trichothiodystrophy 7, non-photosensitive (TTD7) [MIM:618546] TARS2 Q9BW92 VAR_071853 p.Pro282Leu LP/P rs587777593 Combined oxidative phosphorylation deficiency 21 (COXPD21) [MIM:615918] TAS1R1 Q7RTX1 VAR_036707 p.Lys347Glu LB/B rs10864628 - TAS1R1 Q7RTX1 VAR_036708 p.Ala372Thr LB/B rs34160967 - TAS1R1 Q7RTX1 VAR_036709 p.Arg507Gln LB/B rs35118458 - TAS1R2 Q8TE23 VAR_020787 p.Ala574Thr LB/B rs6662276 - TAS1R2 Q8TE23 VAR_027901 p.Ser9Cys LB/B rs9701796 - TAS1R2 Q8TE23 VAR_027902 p.Arg838Lys LB/B rs9988418 - TAS1R2 Q8TE23 VAR_061199 p.Ile191Val LB/B rs35874116 - TAS1R2 Q8TE23 VAR_061200 p.Arg317Gly LB/B rs34447754 - TAS1R2 Q8TE23 VAR_061201 p.Ile486Val LB/B rs28374389 - TAS1R2 Q8TE23 VAR_061202 p.Ile595Thr LB/B rs41273167 - TAS1R3 Q7RTX0 VAR_020788 p.Cys757Arg LB/B rs307377 - TAS2R1 Q9NYW7 VAR_020198 p.Arg111His LB/B rs41469 - TAS2R1 Q9NYW7 VAR_020199 p.Arg206Trp LB/B rs2234233 - TAS2R1 Q9NYW7 VAR_053340 p.Cys141Tyr LB/B rs2234232 - TAS2R10 Q9NYW0 VAR_030009 p.Thr156Met LB/B rs597468 - TAS2R13 Q9NYV9 VAR_021853 p.Asn259Ser LB/B rs1015443 - TAS2R13 Q9NYV9 VAR_036432 p.Asn149Ser US - A breast cancer sample TAS2R14 Q9NYV8 VAR_053347 p.Thr86Ala LB/B rs16925868 - TAS2R14 Q9NYV8 VAR_062085 p.Leu201Phe LB/B rs35804287 - TAS2R16 Q9NYV7 VAR_020205 p.Arg222His LB/B rs860170 - TAS2R16 Q9NYV7 VAR_034539 p.Asn172Lys LB/B rs846664 - TAS2R16 Q9NYV7 VAR_080835 p.Val101Met LB/B rs28371571 - TAS2R16 Q9NYV7 VAR_080836 p.Ile114Val LB/B rs28371574 - TAS2R16 Q9NYV7 VAR_080837 p.Leu116Pro LB/B rs28371575 - TAS2R16 Q9NYV7 VAR_080838 p.Pro161Ser LB/B rs28371576 - TAS2R16 Q9NYV7 VAR_080839 p.Gln177Pro LB/B rs28371577 - TAS2R16 Q9NYV7 VAR_080840 p.Asn216Asp LB/B rs28371578 - TAS2R16 Q9NYV7 VAR_080841 p.Ala221Val LB/B rs28371579 - TAS2R16 Q9NYV7 VAR_080842 p.Val235Met LB/B rs28371580 - TAS2R16 Q9NYV7 VAR_080843 p.Phe240Val LB/B rs28371581 - TAS2R19 P59542 VAR_053354 p.Lys126Gln LB/B rs12424373 - TAS2R19 P59542 VAR_053355 p.Arg299Cys LB/B rs10772420 - TAS2R20 P59543 VAR_053356 p.Lys79Glu LB/B rs7135018 - TAS2R20 P59543 VAR_053357 p.His143Gln LB/B rs12226920 - TAS2R20 P59543 VAR_053358 p.His148Asn LB/B rs12226919 - TAS2R20 P59543 VAR_053359 p.Ile236Val LB/B rs10845281 - TAS2R20 P59543 VAR_053360 p.Phe252Ser LB/B rs10845280 - TAS2R20 P59543 VAR_053361 p.Arg255Leu LB/B rs10845279 - TAS2R30 P59541 VAR_070809 p.Phe252Leu LB/B rs2599404 - TAS2R31 P59538 VAR_030684 p.Arg35Trp LB/B rs10845295 - TAS2R31 P59538 VAR_030685 p.Leu162Met LB/B rs10743938 - TAS2R31 P59538 VAR_030686 p.Gln217Glu LB/B rs10845294 - TAS2R31 P59538 VAR_030687 p.Ala227Val LB/B rs10845293 - TAS2R31 P59538 VAR_030688 p.Val240Ile LB/B rs10772423 - TAS2R31 P59538 VAR_062090 p.Pro276Arg LB/B rs12318612 - TAS2R38 P59533 VAR_017860 p.Ala49Pro LB/B rs713598 - TAS2R38 P59533 VAR_017861 p.Ala262Val LB/B rs1726866 - TAS2R38 P59533 VAR_017862 p.Ile296Val LB/B rs10246939 - TAS2R39 P59534 VAR_053348 p.Ser193Phe LB/B rs35474877 - TAS2R39 P59534 VAR_053349 p.Lys197Glu LB/B rs34169190 - TAS2R4 Q9NYW5 VAR_020200 p.Thr74Met LB/B rs2234000 - TAS2R4 Q9NYW5 VAR_020201 p.Val96Leu LB/B rs2234001 - TAS2R4 Q9NYW5 VAR_020202 p.Ser171Asn LB/B rs2234002 - TAS2R4 Q9NYW5 VAR_034535 p.Arg3Gln LB/B rs2233995 - TAS2R4 Q9NYW5 VAR_034536 p.Phe7Ser LB/B rs2233998 - TAS2R4 Q9NYW5 VAR_053341 p.Phe62Leu LB/B rs2233999 - TAS2R4 Q9NYW5 VAR_053342 p.Ile191Val LB/B rs2234003 - TAS2R40 P59535 VAR_053350 p.Val23Leu LB/B rs17164164 - TAS2R40 P59535 VAR_053351 p.Ser187Tyr LB/B rs10260248 - TAS2R41 P59536 VAR_060211 p.Pro127Leu LB/B rs10278721 - TAS2R42 Q7RTR8 VAR_053352 p.Phe196Ser LB/B rs5020531 - TAS2R42 Q7RTR8 VAR_053353 p.Cys265Tyr LB/B rs1451772 - TAS2R42 Q7RTR8 VAR_062086 p.Tyr175Phe LB/B rs35969491 - TAS2R42 Q7RTR8 VAR_062087 p.Trp255Gly LB/B rs1669413 - TAS2R42 Q7RTR8 VAR_062088 p.Gln292Arg LB/B rs1669412 - TAS2R42 Q7RTR8 VAR_062089 p.Pro311Ala LB/B rs1650017 - TAS2R46 P59540 VAR_062091 p.Leu228Met LB/B rs2708380 - TAS2R5 Q9NYW4 VAR_020203 p.Ser26Ile LB/B rs2227264 - TAS2R5 Q9NYW4 VAR_024184 p.Arg213Gln LB/B rs2234015 - TAS2R5 Q9NYW4 VAR_034537 p.Pro113Leu LB/B rs2234014 - TAS2R5 Q9NYW4 VAR_034538 p.Tyr167Cys LB/B rs34529840 - TAS2R5 Q9NYW4 VAR_053343 p.Gly20Ser LB/B rs2234013 - TAS2R5 Q9NYW4 VAR_053344 p.Arg294Leu LB/B rs2234016 - TAS2R50 P59544 VAR_024187 p.Cys203Tyr LB/B rs1376251 - TAS2R7 Q9NYW3 VAR_021852 p.Thr263Ser LB/B rs3759251 - TAS2R7 Q9NYW3 VAR_024185 p.Met304Ile LB/B rs619381 - TAS2R7 Q9NYW3 VAR_062084 p.Thr263Met LB/B rs11838055 - TAS2R8 Q9NYW2 VAR_024186 p.Met308Val LB/B rs2537817 - TAS2R9 Q9NYW1 VAR_020204 p.Val187Ala LB/B rs3741845 - TAS2R9 Q9NYW1 VAR_053345 p.Lys170Gln LB/B rs11054043 - TAS2R9 Q9NYW1 VAR_053346 p.Leu238Val LB/B rs11054042 - TASOR Q9UK61 VAR_033350 p.Ala831Gly LB/B rs17056999 - TASOR Q9UK61 VAR_033351 p.Thr1046Arg LB/B rs9835332 - TASOR Q9UK61 VAR_033352 p.Ile1435Val LB/B rs2291498 - TASOR Q9UK61 VAR_055092 p.Val998Ile LB/B rs2291498 - TASOR Q9UK61 VAR_059595 p.Gln38Pro LB/B rs958755 - TASOR2 Q5VWN6 VAR_034838 p.Arg1075Pro LB/B rs2797491 - TASOR2 Q5VWN6 VAR_034839 p.Val1679Ala LB/B rs2669142 - TASOR2 Q5VWN6 VAR_034840 p.Ser2404Asn LB/B rs2797501 - TASOR2 Q5VWN6 VAR_050848 p.Cys499Gly LB/B rs2254067 - TASOR2 Q5VWN6 VAR_050849 p.Ala630Asp LB/B rs4748636 - TASOR2 Q5VWN6 VAR_050850 p.Val1206Met LB/B rs3814196 - TASOR2 Q5VWN6 VAR_050851 p.Pro1578Ser LB/B rs17143175 - TASOR2 Q5VWN6 VAR_050852 p.Thr1782Ile LB/B rs11593253 - TASOR2 Q5VWN6 VAR_050853 p.Lys2288Arg LB/B rs2275774 - TASOR2 Q5VWN6 VAR_061601 p.Ser724Tyr LB/B rs56856085 - TASOR2 Q5VWN6 VAR_061602 p.Ile807Val LB/B rs45575338 - TASP1 Q9H6P5 VAR_084462 p.Thr234Met LP/P rs904200599 Suleiman-El-Hattab syndrome (SULEHS) [MIM:618950] TAT P17735 VAR_000560 p.Gly362Val LP/P rs587776511 Tyrosinemia 2 (TYRSN2) [MIM:276600] TAT P17735 VAR_048226 p.Asn70Asp LB/B rs16973344 - TATDN2 Q93075 VAR_047028 p.His217Arg LB/B rs2241314 - TATDN2 Q93075 VAR_047029 p.Val256Ile LB/B rs394558 - TATDN2 Q93075 VAR_047030 p.Pro358Leu LB/B rs2075352 - TAX1BP1 Q86VP1 VAR_026286 p.Leu307Ile LB/B rs11540483 - TAX1BP1 Q86VP1 VAR_035665 p.Gln457Arg US - A breast cancer sample TAX1BP1 Q86VP1 VAR_051415 p.Ser58Asn LB/B rs7809260 - TAX1BP3 O14907 VAR_073966 p.Ile33Thr US rs1057517690 - TBATA Q96M53 VAR_022998 p.Arg237Gln LB/B rs2254174 - TBC1D1 Q86TI0 VAR_028089 p.Ser14Pro LB/B rs2279027 - TBC1D1 Q86TI0 VAR_028090 p.Thr55Ile LB/B rs4008480 - TBC1D1 Q86TI0 VAR_028091 p.Val228Gly LB/B rs10501 - TBC1D1 Q86TI0 VAR_028092 p.Tyr685Ser LB/B rs7677030 - TBC1D1 Q86TI0 VAR_028093 p.Arg1136Gln LB/B rs13110318 - TBC1D1 Q86TI0 VAR_054392 p.Arg125Trp LB/B rs35859249 - TBC1D10A Q9BXI6 VAR_052541 p.Arg411His LB/B rs4823086 - TBC1D13 Q9NVG8 VAR_070804 p.Val190Ala LB/B rs1572912 - TBC1D14 Q9P2M4 VAR_059856 p.Glu446Gln LB/B rs11731231 - TBC1D14 Q9P2M4 VAR_067442 p.Leu41Val LB/B rs34860182 - TBC1D16 Q8TBP0 VAR_052542 p.Glu476Lys LB/B rs34845477 - TBC1D17 Q9HA65 VAR_024655 p.Leu99Pro LB/B rs3745486 - TBC1D17 Q9HA65 VAR_060276 p.Gly84Asp LB/B rs8109661 - TBC1D19 Q8N5T2 VAR_030602 p.Ser241Gly LB/B rs16878555 - TBC1D19 Q8N5T2 VAR_030603 p.Ser509Phe LB/B rs17852970 - TBC1D2 Q9BYX2 VAR_046707 p.Pro241Thr LB/B rs879368 - TBC1D2 Q9BYX2 VAR_046708 p.Leu253Ser LB/B rs879369 - TBC1D2 Q9BYX2 VAR_046709 p.Gly261Val LB/B rs1573025 - TBC1D20 Q96BZ9 VAR_052543 p.Asn79Ser LB/B rs36088178 - TBC1D21 Q8IYX1 VAR_034544 p.Arg113Gln LB/B rs16958445 - TBC1D23 Q9NUY8 VAR_080040 p.Arg518Gln US - Pontocerebellar hypoplasia 11 (PCH11) [MIM:617695] TBC1D24 Q9ULP9 VAR_064365 p.Asp147His LP/P rs267607103 Familial infantile myoclonic epilepsy (FIME) [MIM:605021] TBC1D24 Q9ULP9 VAR_064366 p.Phe251Leu LP/P rs267607104 Familial infantile myoclonic epilepsy (FIME) [MIM:605021] TBC1D24 Q9ULP9 VAR_064367 p.Ala515Val LP/P rs267607105 Familial infantile myoclonic epilepsy (FIME) [MIM:605021] TBC1D24 Q9ULP9 VAR_070102 p.Phe229Ser LP/P rs397514713 Developmental and epileptic encephalopathy 16 (DEE16) [MIM:615338] TBC1D24 Q9ULP9 VAR_070890 p.Phe295Leu LB/B rs72768728 - TBC1D24 Q9ULP9 VAR_070912 p.Gln20Glu LP/P rs201257588 Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (DOORS) [MIM:220500] TBC1D24 Q9ULP9 VAR_070913 p.Arg40Cys LP/P rs398122966 Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (DOORS) [MIM:220500] TBC1D24 Q9ULP9 VAR_070914 p.Gly110Ser US rs747821285 Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (DOORS) [MIM:220500] TBC1D24 Q9ULP9 VAR_070915 p.Arg242Cys LP/P rs398122965 Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (DOORS) [MIM:220500] TBC1D24 Q9ULP9 VAR_070916 p.Leu333Phe LP/P rs797044548 Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (DOORS) [MIM:220500] TBC1D24 Q9ULP9 VAR_070994 p.Asp70Tyr LP/P rs587777147 Deafness, autosomal recessive, 86 (DFNB86) [MIM:614617] TBC1D24 Q9ULP9 VAR_070995 p.Arg293Pro LP/P rs199700840 Deafness, autosomal recessive, 86 (DFNB86) [MIM:614617] TBC1D24 Q9ULP9 VAR_072107 p.Ser178Leu LP/P rs483352866 Deafness, autosomal dominant, 65 (DFNA65) [MIM:616044] TBC1D24 Q9ULP9 VAR_078184 p.Ala113Asp LP/P rs770820144 Developmental and epileptic encephalopathy 16 (DEE16) [MIM:615338] TBC1D24 Q9ULP9 VAR_078185 p.Leu159Pro LP/P rs863223337 Developmental and epileptic encephalopathy 16 (DEE16) [MIM:615338] TBC1D24 Q9ULP9 VAR_083254 p.Thr182Met US rs763670146 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp (EPRPDC) [MIM:608105] TBC1D24 Q9ULP9 VAR_083255 p.Arg360His LP/P rs765965968 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp (EPRPDC) [MIM:608105] TBC1D24 Q9ULP9 VAR_083256 p.Ala500Val LP/P rs564477999 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp (EPRPDC) [MIM:608105] TBC1D24 Q9ULP9 VAR_083257 p.Gly501Arg LP/P rs1596973014 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp (EPRPDC) [MIM:608105] TBC1D24 Q9ULP9 VAR_083258 p.Gly511Arg US rs1251822607 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp (EPRPDC) [MIM:608105] TBC1D25 Q3MII6 VAR_057345 p.Asn277Ser LB/B rs2293948 - TBC1D26 Q86UD7 VAR_043563 p.Ala206Val LB/B rs11650318 - TBC1D26 Q86UD7 VAR_047676 p.Gly234Ser LB/B rs17855672 - TBC1D3 Q8IZP1 VAR_063088 p.Gln526Pro LB/B rs1567681955 - TBC1D30 Q9Y2I9 VAR_039261 p.Gln296His LB/B rs11615287 - TBC1D30 Q9Y2I9 VAR_039262 p.Val752Ile LB/B rs939875 - TBC1D30 Q9Y2I9 VAR_052544 p.Asn596Asp LB/B rs2290527 - TBC1D30 Q9Y2I9 VAR_059857 p.Asn759Asp LB/B rs2290527 - TBC1D31 Q96DN5 VAR_027960 p.Arg414His LB/B rs16897967 - TBC1D31 Q96DN5 VAR_027961 p.Val709Phe LB/B rs16898023 - TBC1D31 Q96DN5 VAR_057632 p.Ala1065Thr LB/B rs34994118 - TBC1D32 Q96NH3 VAR_046958 p.Arg82Gln LB/B rs7767455 - TBC1D32 Q96NH3 VAR_046959 p.Ile280Val LB/B rs9490157 - TBC1D32 Q96NH3 VAR_046960 p.Thr375Lys LB/B rs9387944 - TBC1D32 Q96NH3 VAR_046961 p.Ile599Val LB/B rs7745023 - TBC1D4 O60343 VAR_052534 p.Thr1147Met LB/B rs9600455 - TBC1D4 O60343 VAR_052535 p.Val1275Ala LB/B rs557337 - TBC1D4 O60343 VAR_054862 p.Leu1284Ile LB/B rs11616741 - TBC1D4 O60343 VAR_059855 p.Val819Ile LB/B rs1062087 - TBC1D4 O60343 VAR_061891 p.Pro619Leu LB/B rs56223054 - TBC1D4 O60343 VAR_061892 p.Val1119Ala LB/B rs58232698 - TBC1D5 Q92609 VAR_052536 p.Ile696Val LB/B rs1138454 - TBC1D7 Q9P0N9 VAR_052537 p.Leu67Trp LB/B rs543580 - TBC1D7 Q9P0N9 VAR_052538 p.Ala136Thr LB/B rs9381921 - TBC1D8 O95759 VAR_022128 p.Arg1079Gly LB/B rs746924 - TBC1D8 O95759 VAR_022129 p.Met1108Val LB/B rs3739011 - TBC1D8 O95759 VAR_024654 p.Gly954Arg LB/B rs1062062 - TBC1D8 O95759 VAR_047500 p.Thr317Ala LB/B rs2289953 - TBC1D8 O95759 VAR_060542 p.Phe1073Leu LB/B rs1057580 - TBC1D8B Q0IIM8 VAR_082286 p.Gln246His LP/P rs761410195 Nephrotic syndrome 20 (NPHS20) [MIM:301028] TBC1D8B Q0IIM8 VAR_082287 p.Phe291Ser LP/P rs1602413491 Nephrotic syndrome 20 (NPHS20) [MIM:301028] TBC1D9 Q6ZT07 VAR_052539 p.Glu7Lys LB/B rs13108827 - TBC1D9 Q6ZT07 VAR_052540 p.Glu779Lys LB/B rs13118702 - TBC1D9B Q66K14 VAR_032440 p.Leu240Pro LB/B rs1057078 - TBC1D9B Q66K14 VAR_032441 p.Val706Ile LB/B rs10037618 - TBC1D9B Q66K14 VAR_032442 p.Lys1119Thr LB/B rs30386 - TBC1D9B Q66K14 VAR_036196 p.Pro1086Gln US - A breast cancer sample TBCC Q15814 VAR_020448 p.Pro169Ser LB/B rs2234027 - TBCC Q15814 VAR_024653 p.Pro180Ser LB/B rs2234028 - TBCC Q15814 VAR_026822 p.Val65Ala LB/B rs2234026 - TBCC Q15814 VAR_026823 p.Gly157Asp LB/B rs7742995 - TBCC Q15814 VAR_026824 p.Ala279Thr LB/B rs12175072 - TBCC Q15814 VAR_067423 p.Glu86Asp LB/B rs144361927 - TBCCD1 Q9NVR7 VAR_035123 p.Lys149Arg LB/B rs7619912 - TBCD Q9BTW9 VAR_057264 p.Met617Thr LB/B rs2292971 - TBCD Q9BTW9 VAR_057265 p.Ser923Asn LB/B rs3214033 - TBCD Q9BTW9 VAR_057266 p.Gly943Val LB/B rs8072406 - TBCD Q9BTW9 VAR_057267 p.Leu1185Pro LB/B rs2292969 - TBCD Q9BTW9 VAR_077968 p.Leu229Arg LP/P rs778417127 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] TBCD Q9BTW9 VAR_077969 p.Thr374Met LP/P rs953299085 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] TBCD Q9BTW9 VAR_077970 p.Arg377Gln LP/P rs764085684 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] TBCD Q9BTW9 VAR_077971 p.Met387Arg LP/P rs886041086 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] TBCD Q9BTW9 VAR_077972 p.Ala475Thr LP/P rs775014444 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] TBCD Q9BTW9 VAR_077973 p.Ala586Val LP/P rs1567999844 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] TBCD Q9BTW9 VAR_077974 p.Ala626Thr LP/P rs749225304 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] TBCD Q9BTW9 VAR_077975 p.Arg772Cys LP/P rs181969865 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] TBCD Q9BTW9 VAR_077976 p.Ala921Thr LP/P rs886041085 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] TBCD Q9BTW9 VAR_077977 p.Pro937Arg LP/P rs886041087 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] TBCD Q9BTW9 VAR_077978 p.Thr994Met US rs867484272 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] TBCD Q9BTW9 VAR_077979 p.Val1105Met US rs764003906 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] TBCD Q9BTW9 VAR_077980 p.Pro1122Leu LP/P rs755177846 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] TBCE Q15813 VAR_032921 p.Val205Ala LB/B rs16832611 - TBCE Q15813 VAR_032922 p.Ser333Thr LB/B rs35579976 - TBCE Q15813 VAR_032923 p.Glu409Gly LB/B rs16832619 - TBCE Q15813 VAR_077878 p.Ile155Asn LP/P rs780472451 Encephalopathy, progressive, with amyotrophy and optic atrophy (PEAMO) [MIM:617207] TBCK Q8TEA7 VAR_030123 p.Gln266Glu LB/B rs3775091 - TBCK Q8TEA7 VAR_030124 p.Lys489Asn LB/B rs2305685 - TBCK Q8TEA7 VAR_041380 p.Arg66Leu LB/B rs35784409 - TBCK Q8TEA7 VAR_041381 p.Ile151Met LB/B rs35835241 - TBCK Q8TEA7 VAR_041382 p.Asp265Asn LB/B rs34770077 - TBCK Q8TEA7 VAR_041383 p.Thr425Met LB/B rs34307452 - TBCK Q8TEA7 VAR_041384 p.Met471Ile LB/B rs34961213 - TBCK Q8TEA7 VAR_041385 p.Arg503Ile US - A colorectal adenocarcinoma sample TBCK Q8TEA7 VAR_041386 p.Arg692Cys LB/B rs35790205 - TBCK Q8TEA7 VAR_041387 p.Ile806Val US - A head & Neck squamous cell carcinoma sample TBCK Q8TEA7 VAR_077816 p.Arg511His LP/P rs869320711 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (IHPRF3) [MIM:616900] TBCK Q8TEA7 VAR_077817 p.Leu551Pro LP/P - Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (IHPRF3) [MIM:616900] TBK1 Q9UHD2 VAR_024746 p.Asn388Asp LB/B rs17857028 - TBK1 Q9UHD2 VAR_024747 p.Lys570Gln LB/B rs17853341 - TBK1 Q9UHD2 VAR_041208 p.Arg271Gln LB/B rs56196591 - TBK1 Q9UHD2 VAR_041209 p.Lys291Glu LB/B rs34774243 - TBK1 Q9UHD2 VAR_041210 p.Asp296His US - A breast pleomorphic lobular carcinoma sample TBK1 Q9UHD2 VAR_041211 p.Gly410Arg US rs1262765773 A colorectal adenocarcinoma sample TBK1 Q9UHD2 VAR_041212 p.Val464Ala LB/B rs35635889 - TBK1 Q9UHD2 VAR_069754 p.Ser151Phe LB/B rs55824172 - TBK1 Q9UHD2 VAR_069755 p.Leu306Ile US rs201970436 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439] TBK1 Q9UHD2 VAR_073938 p.Arg47His LP/P - Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439] TBK1 Q9UHD2 VAR_073939 p.Tyr105Cys LP/P rs1366668789 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439] TBK1 Q9UHD2 VAR_073940 p.Ile305Thr LP/P rs770942184 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439] TBK1 Q9UHD2 VAR_073941 p.Arg308Gln LP/P - Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439] TBK1 Q9UHD2 VAR_073942 p.Arg357Gln LP/P rs758357594 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439] TBK1 Q9UHD2 VAR_073943 p.Lys401Glu LP/P rs756751089 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439] TBK1 Q9UHD2 VAR_073944 p.Met559Arg LP/P - Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439] TBK1 Q9UHD2 VAR_073945 p.Ala571Val LP/P rs765035140 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439] TBK1 Q9UHD2 VAR_073946 p.Met598Val LP/P rs899858451 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439] TBK1 Q9UHD2 VAR_073948 p.Glu696Lys LP/P rs748112833 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439] TBK1 Q9UHD2 VAR_080517 p.Asp50Ala LP/P rs1010930015 Encephalopathy, acute, infection-induced, 8, herpes-specific (IIAE8) [MIM:617900] TBK1 Q9UHD2 VAR_080518 p.Gly159Ala LP/P rs1555202947 Encephalopathy, acute, infection-induced, 8, herpes-specific (IIAE8) [MIM:617900] TBK1 Q9UHD2 VAR_080519 p.Ile207Val US rs1555203557 Encephalopathy, acute, infection-induced, 8, herpes-specific (IIAE8) [MIM:617900] TBK1 Q9UHD2 VAR_084111 p.Phe24Ser US - - TBK1 Q9UHD2 VAR_084112 p.Val152Leu US - - TBK1 Q9UHD2 VAR_084114 p.Arg384Gln US - - TBK1 Q9UHD2 VAR_084115 p.Asn388Ser US - - TBK1 Q9UHD2 VAR_084116 p.Ile397Thr US - - TBK1 Q9UHD2 VAR_084117 p.Leu508Ile US - - TBK1 Q9UHD2 VAR_084118 p.Ile522Met US - - TBK1 Q9UHD2 VAR_084119 p.Ala533Thr US - - TBK1 Q9UHD2 VAR_084120 p.Glu653Gln US - - TBK1 Q9UHD2 VAR_084121 p.Pro659Ser US - - TBL1X O60907 VAR_083286 p.Asn416Tyr US - Hypothyroidism, congenital, non-goitrous, 8 (CHNG8) [MIM:301033] TBL1X O60907 VAR_083287 p.Ala417Thr US - Hypothyroidism, congenital, non-goitrous, 8 (CHNG8) [MIM:301033] TBL1X O60907 VAR_083288 p.Trp420Arg US - Hypothyroidism, congenital, non-goitrous, 8 (CHNG8) [MIM:301033] TBL1X O60907 VAR_083289 p.His504Tyr US - Hypothyroidism, congenital, non-goitrous, 8 (CHNG8) [MIM:301033] TBL1X O60907 VAR_083290 p.Tyr509Cys US - Hypothyroidism, congenital, non-goitrous, 8 (CHNG8) [MIM:301033] TBL1XR1 Q9BZK7 VAR_076753 p.Gly70Asp LP/P rs786205859 Intellectual developmental disorder, autosomal dominant 41 (MRD41) [MIM:616944] TBL1XR1 Q9BZK7 VAR_076754 p.Ala116Ser LB/B rs372813783 - TBL1XR1 Q9BZK7 VAR_076755 p.Tyr245Cys LP/P rs878854401 Intellectual developmental disorder, autosomal dominant 41 (MRD41) [MIM:616944] TBL1XR1 Q9BZK7 VAR_076756 p.Leu282Pro LP/P - Intellectual developmental disorder, autosomal dominant 41 (MRD41) [MIM:616944] TBL1XR1 Q9BZK7 VAR_076757 p.Gly405Glu US rs747932785 - TBL1XR1 Q9BZK7 VAR_076758 p.Asn407Ser US rs781011308 - TBL1XR1 Q9BZK7 VAR_076759 p.Tyr446Cys LP/P rs878854402 Pierpont syndrome (PRPTS) [MIM:602342] TBL1Y Q9BQ87 VAR_082113 p.Asp69Val US rs199659121 Deafness, Y-linked 2 (DFNY2) [MIM:400047] TBL2 Q9Y4P3 VAR_053420 p.Val345Ile LB/B rs35607697 - TBL3 Q12788 VAR_014479 p.Ser457Pro LB/B rs17605 - TBL3 Q12788 VAR_054320 p.Gln293Arg LB/B rs2230086 - TBL3 Q12788 VAR_054321 p.Glu294Gln LB/B rs8052713 - TBR1 Q16650 VAR_052264 p.His289Gln LB/B rs12994035 - TBR1 Q16650 VAR_078646 p.Trp271Arg LP/P rs1553510301 Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053] TBR1 Q16650 VAR_081757 p.Gln178Glu US rs771354583 Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053] TBR1 Q16650 VAR_081758 p.Lys228Glu LP/P - Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053] TBR1 Q16650 VAR_081759 p.Trp271Cys LP/P rs1559060428 Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053] TBR1 Q16650 VAR_081760 p.Val356Met US rs147026901 Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053] TBR1 Q16650 VAR_081761 p.Asn374His LP/P rs1684182454 Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053] TBR1 Q16650 VAR_081762 p.Lys389Glu LP/P rs1553510677 Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053] TBR1 Q16650 VAR_081763 p.Gln418Arg US rs1173646549 Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053] TBR1 Q16650 VAR_081764 p.Pro542Arg US - Intellectual developmental disorder with autism and speech delay (IDDAS) [MIM:606053] TBRG4 Q969Z0 VAR_030071 p.Ala22Ser LB/B rs2304694 - TBRG4 Q969Z0 VAR_030072 p.Pro57Leu LB/B rs2304693 - TBX1 O43435 VAR_024657 p.Thr350Met LB/B rs4819522 - TBX1 O43435 VAR_034545 p.Gly310Ser LP/P rs41298838 DiGeorge syndrome (DGS) [MIM:188400] TBX1 O43435 VAR_035025 p.Phe148Tyr LP/P rs28939675 Conotruncal heart malformations (CTHM) [MIM:217095] TBX1 O43435 VAR_035025 p.Phe148Tyr LP/P rs28939675 Velocardiofacial syndrome (VCFS) [MIM:192430] TBX1 O43435 VAR_035026 p.His194Gln LP/P rs74315522 Velocardiofacial syndrome (VCFS) [MIM:192430] TBX1 O43435 VAR_036065 p.Gly337Glu US - A colorectal cancer sample TBX10 O75333 VAR_021984 p.Lys101Thr LB/B rs3758938 - TBX10 O75333 VAR_052262 p.Gln160His LB/B rs11227873 - TBX15 Q96SF7 VAR_055341 p.His156Asn LB/B rs10494217 - TBX18 O95935 VAR_052263 p.Gly48Arg LB/B rs172562 - TBX18 O95935 VAR_074629 p.Lys163Glu LP/P rs797045022 Congenital anomalies of kidney and urinary tract 2 (CAKUT2) [MIM:143400] TBX18 O95935 VAR_074630 p.Ala164Thr LB/B - - TBX18 O95935 VAR_074631 p.His524Tyr LP/P rs760905589 Congenital anomalies of kidney and urinary tract 2 (CAKUT2) [MIM:143400] TBX18 O95935 VAR_074632 p.Pro526Ser LB/B - - TBX19 O60806 VAR_018387 p.Ser128Phe LP/P rs74315377 ACTH deficiency, isolated (IAD) [MIM:201400] TBX2 Q13207 VAR_081780 p.Arg20Gln US rs1364709483 Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) [MIM:618223] TBX2 Q13207 VAR_081781 p.Arg305His LP/P rs1555877071 Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) [MIM:618223] TBX20 Q9UMR3 VAR_036995 p.Ile152Met LP/P rs137852954 Atrial septal defect 4 (ASD4) [MIM:611363] TBX20 Q9UMR3 VAR_073144 p.Ile121Met LP/P rs267607106 Atrial septal defect 4 (ASD4) [MIM:611363] TBX21 Q9UL17 VAR_020252 p.His33Gln LB/B rs2240017 - TBX21 Q9UL17 VAR_029275 p.Ile339Val LB/B rs12721471 - TBX22 Q9Y458 VAR_015383 p.Gly118Cys LP/P rs104894944 Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400] TBX22 Q9Y458 VAR_015384 p.Thr260Met LP/P rs104894943 Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400] TBX22 Q9Y458 VAR_021829 p.Leu214Pro LP/P rs104894946 Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400] TBX22 Q9Y458 VAR_021830 p.Asn264Tyr LP/P rs28935177 Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400] TBX22 Q9Y458 VAR_021831 p.Met121Val LP/P - Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400] TBX22 Q9Y458 VAR_021832 p.Pro183Leu LP/P - Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400] TBX22 Q9Y458 VAR_021833 p.Glu187Lys LB/B rs34244923 - TBX22 Q9Y458 VAR_036066 p.Val16Ala US - A colorectal cancer sample TBX22 Q9Y458 VAR_036067 p.Ala51Thr US - A colorectal cancer sample TBX22 Q9Y458 VAR_036068 p.Asp307Asn US rs750292974 A colorectal cancer sample TBX22 Q9Y458 VAR_069416 p.Phe249Tyr LB/B - - TBX3 O15119 VAR_009601 p.Leu143Pro LP/P - Ulnar-mammary syndrome (UMS) [MIM:181450] TBX3 O15119 VAR_009602 p.Tyr149Ser LP/P - Ulnar-mammary syndrome (UMS) [MIM:181450] TBX4 P57082 VAR_020251 p.Gly6Ala LB/B rs3744448 - TBX4 P57082 VAR_021983 p.Ala314Val LB/B rs3744438 - TBX4 P57082 VAR_026745 p.Gly248Val LP/P rs28938474 Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS) [MIM:147891] TBX4 P57082 VAR_026746 p.Gln531Arg LP/P rs28936696 Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS) [MIM:147891] TBX4 P57082 VAR_026772 p.Ala35Val LB/B rs148424252 - TBX4 P57082 VAR_078493 p.Pro282Thr LB/B - - TBX5 Q99593 VAR_007456 p.Arg237Gln LP/P rs104894378 Holt-Oram syndrome (HOS) [MIM:142900] TBX5 Q99593 VAR_009701 p.Gly80Arg LP/P rs104894381 Holt-Oram syndrome (HOS) [MIM:142900] TBX5 Q99593 VAR_009702 p.Arg237Trp LP/P rs104894382 Holt-Oram syndrome (HOS) [MIM:142900] TBX5 Q99593 VAR_015381 p.Gln49Lys LP/P rs104894383 Holt-Oram syndrome (HOS) [MIM:142900] TBX5 Q99593 VAR_015382 p.Ile54Thr LP/P rs104894384 Holt-Oram syndrome (HOS) [MIM:142900] TBX5 Q99593 VAR_074599 p.Ala143Thr LB/B rs374906778 - TBX5 Q99593 VAR_074600 p.Ser154Ala US - - TBX5 Q99593 VAR_076642 p.His170Asp US - - TBX5 Q99593 VAR_076673 p.Pro132Ser US - - TBX6 O95947 VAR_027836 p.Ser178Phe LB/B rs12925839 - TBX6 O95947 VAR_027837 p.Pro179Ser LB/B rs12925838 - TBX6 O95947 VAR_061837 p.Gly162Ser LB/B rs56098093 - TBX6 O95947 VAR_078494 p.Met111Ile US - - TBX6 O95947 VAR_078495 p.Pro145Leu US rs202193096 Spondylocostal dysostosis 5 (SCDO5) [MIM:122600] TBX6 O95947 VAR_078496 p.Arg150Cys US rs949681104 - TBXA2R P21731 VAR_003515 p.Arg60Leu LP/P rs34377097 Bleeding disorder, platelet-type, 13 (BDPLT13) [MIM:614009] TBXA2R P21731 VAR_014688 p.Cys68Ser LB/B rs5743 - TBXA2R P21731 VAR_014689 p.Val80Glu LB/B rs5744 - TBXA2R P21731 VAR_014690 p.Glu94Val LB/B rs5746 - TBXA2R P21731 VAR_014691 p.Ala160Thr LB/B rs5749 - TBXA2R P21731 VAR_014692 p.Val176Glu LB/B rs5750 - TBXA2R P21731 VAR_014693 p.Val217Ile LB/B rs5751 - TBXAS1 P24557 VAR_010919 p.Asp160Glu LB/B rs5768 - TBXAS1 P24557 VAR_010920 p.Asn245Ser LB/B rs55856189 - TBXAS1 P24557 VAR_010921 p.Leu356Val LB/B rs4529 - TBXAS1 P24557 VAR_010922 p.Gln416Glu LB/B rs4528 - TBXAS1 P24557 VAR_010923 p.Glu449Lys LB/B rs8192868 - TBXAS1 P24557 VAR_010924 p.Thr450Asn LB/B rs5763 - TBXAS1 P24557 VAR_010925 p.Arg465Gln LB/B rs41311778 - TBXAS1 P24557 VAR_014157 p.Arg60His LB/B rs6138 - TBXAS1 P24557 VAR_014158 p.Leu162Ile LB/B rs6137 - TBXAS1 P24557 VAR_014159 p.Ile331Thr LB/B rs6140 - TBXAS1 P24557 VAR_014160 p.Arg424Cys LB/B rs5762 - TBXAS1 P24557 VAR_014161 p.Ala429Thr LB/B rs4526 - TBXAS1 P24557 VAR_014647 p.Lys257Glu LB/B rs5769 - TBXAS1 P24557 VAR_014648 p.Arg260Gly LB/B rs5770 - TBXAS1 P24557 VAR_014649 p.Gln316Lys LB/B rs5771 - TBXAS1 P24557 VAR_016158 p.Gly389Val LB/B rs5760 - TBXAS1 P24557 VAR_018378 p.Val124Ile LB/B rs8192833 - TBXAS1 P24557 VAR_018379 p.Glu388Lys LB/B rs3735354 - TBXAS1 P24557 VAR_018380 p.Arg501Gln LB/B rs8192864 - TBXAS1 P24557 VAR_036294 p.Arg85Trp US rs1016604233 A breast cancer sample TBXAS1 P24557 VAR_044386 p.Leu82Pro LP/P rs140005285 Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095] TBXAS1 P24557 VAR_044387 p.Leu357Val LB/B rs4529 - TBXAS1 P24557 VAR_044388 p.Arg412Gln LP/P rs199422117 Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095] TBXAS1 P24557 VAR_044389 p.Gly481Trp LP/P rs199422116 Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095] TBXAS1 P24557 VAR_044390 p.Leu487Pro LP/P rs199422114 Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095] TBXAS1 P24557 VAR_044391 p.Leu512Pro LB/B rs13306050 - TBXAS1 P24557 VAR_055565 p.Glu387Lys LB/B rs3735354 - TBXAS1 P24557 VAR_055566 p.Pro511Leu LB/B rs13306050 - TBXAS1 P24557 VAR_058465 p.Leu70Pro LB/B rs13306050 - TBXAS1 P24557 VAR_058466 p.Leu70Val LB/B rs4529 - TBXT O15178 VAR_020250 p.Asn369Ser LB/B rs3816300 - TBXT O15178 VAR_021982 p.Gly177Asp LB/B rs2305089 - TBXT O15178 VAR_024656 p.Gly356Ser LB/B rs3127328 - TBXT O15178 VAR_032457 p.Val367Met LB/B rs35292451 - TBXT O15178 VAR_032458 p.Glu402Lys LB/B rs34517945 - TBXT O15178 VAR_063239 p.Val358Ile LB/B rs77703807 - TBXT O15178 VAR_071251 p.His171Arg LP/P rs587777303 Sacral agenesis with vertebral anomalies (SAVA) [MIM:615709] TBXT O15178 VAR_082154 p.Gly156Cys US rs1779123176 Neural tube defects (NTD) [MIM:182940] TC2N Q8N9U0 VAR_051405 p.Lys151Thr LB/B rs2402073 - TC2N Q8N9U0 VAR_051406 p.Ser172Asn LB/B rs8020529 - TCAIM Q8N3R3 VAR_050720 p.His4Pro LB/B rs35830741 - TCAP O15273 VAR_015397 p.Arg87Gln US rs121434298 - TCAP O15273 VAR_026650 p.Arg70Trp LP/P rs775636212 Cardiomyopathy, familial hypertrophic, 25 (CMH25) [MIM:607487] TCAP O15273 VAR_026651 p.Pro90Leu US rs727504427 Cardiomyopathy, familial hypertrophic, 25 (CMH25) [MIM:607487] TCAP O15273 VAR_029445 p.Leu74His LB/B rs17851031 - TCAP O15273 VAR_029446 p.Glu132Gln LB/B rs748358368 - TCAP O15273 VAR_029447 p.Thr137Ile LP/P rs773317399 Cardiomyopathy, familial hypertrophic, 25 (CMH25) [MIM:607487] TCAP O15273 VAR_029448 p.Arg153His LP/P rs149585781 Cardiomyopathy, familial hypertrophic, 25 (CMH25) [MIM:607487] TCAP O15273 VAR_051421 p.Arg106Cys LB/B rs45578741 - TCEAL1 Q15170 VAR_057270 p.Arg5Cys LB/B rs34421776 - TCEAL1 Q15170 VAR_087931 p.Cys90Tyr LP/P - Hijazi-Reis syndrome (HIJRS) [MIM:301094] TCEAL1 Q15170 VAR_087932 p.Asp116Asn US - Hijazi-Reis syndrome (HIJRS) [MIM:301094] TCEAL2 Q9H3H9 VAR_034546 p.Asp19Gly LB/B rs34924423 - TCEAL2 Q9H3H9 VAR_034547 p.Gly68Ala LB/B rs5944856 - TCEAL3 Q969E4 VAR_059829 p.Gln87Glu LB/B rs12009847 - TCEANC Q8N8B7 VAR_028970 p.Ser163Leu LB/B rs2361159 - TCERG1L Q5VWI1 VAR_037601 p.Pro339Gln LB/B rs17857275 - TCERG1L Q5VWI1 VAR_037602 p.Lys437Thr US rs1480561756 A colorectal cancer sample TCERG1L Q5VWI1 VAR_037603 p.Glu529Lys LB/B rs17857276 - TCERG1L Q5VWI1 VAR_037604 p.Gln566Lys LB/B rs17854242 - TCF12 Q99081 VAR_049543 p.Gly300Ser LB/B rs12442879 - TCF12 Q99081 VAR_070096 p.Leu600Pro LP/P - Craniosynostosis 3 (CRS3) [MIM:615314] TCF12 Q99081 VAR_070097 p.Gln614Glu LP/P rs886037641 Craniosynostosis 3 (CRS3) [MIM:615314] TCF12 Q99081 VAR_072271 p.Leu483Arg LP/P rs36060670 Craniosynostosis 3 (CRS3) [MIM:615314] TCF19 Q9Y242 VAR_017741 p.Met211Val LB/B rs2073721 - TCF19 Q9Y242 VAR_017742 p.Pro241Leu LB/B rs2073724 - TCF19 Q9Y242 VAR_051604 p.Pro109Ser LB/B rs7750641 - TCF20 Q9UGU0 VAR_025427 p.Thr485Asn LB/B rs6002656 - TCF20 Q9UGU0 VAR_025428 p.Ser722Gly LB/B rs5758651 - TCF20 Q9UGU0 VAR_025429 p.Met1165Ile LB/B rs17002890 - TCF20 Q9UGU0 VAR_025430 p.Ser1325Asn LB/B rs17002888 - TCF20 Q9UGU0 VAR_051419 p.Met405Val LB/B rs34030679 - TCF20 Q9UGU0 VAR_051420 p.Tyr1910Cys LB/B rs17002865 - TCF20 Q9UGU0 VAR_082677 p.Ser16Thr LB/B - - TCF20 Q9UGU0 VAR_082682 p.Lys512Glu US - Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA) [MIM:618430] TCF20 Q9UGU0 VAR_082691 p.Pro1557Leu US - Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA) [MIM:618430] TCF20 Q9UGU0 VAR_082694 p.Lys1710Arg US - Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA) [MIM:618430] TCF20 Q9UGU0 VAR_082696 p.His1909Tyr LP/P - Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA) [MIM:618430] TCF20 Q9UGU0 VAR_082697 p.Pro1937Leu US - Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA) [MIM:618430] TCF20 Q9UGU0 VAR_082698 p.Pro1942His US - Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA) [MIM:618430] TCF23 Q7RTU1 VAR_038325 p.Arg25Gln LB/B rs11126879 - TCF23 Q7RTU1 VAR_038326 p.Thr40Ser LB/B rs4502371 - TCF3 P15923 VAR_036396 p.Ala8Val US rs376780559 A colorectal cancer sample TCF3 P15923 VAR_049552 p.Leu120Pro LB/B rs35354874 - TCF3 P15923 VAR_049553 p.Thr198Ala LB/B rs11879402 - TCF3 P15923 VAR_049554 p.Gly431Ser LB/B rs1052692 - TCF4 P15884 VAR_034704 p.Arg576Gln LP/P rs121909121 Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_034705 p.Arg576Trp LP/P rs121909120 Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_049545 p.Met450Ile LB/B rs11660217 - TCF4 P15884 VAR_058632 p.Asp535Gly LP/P - Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_058633 p.Arg572Gly LP/P - Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_058634 p.Ala610Val LP/P - Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_066839 p.Gly358Val LP/P - Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_066840 p.Arg574Pro LP/P rs121909123 Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_066841 p.Arg578His LP/P - Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_066970 p.Arg565Trp LP/P - Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_066971 p.Arg572Gln LP/P rs1057521070 Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_066972 p.Arg574His LP/P rs121909123 Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_066973 p.Arg578Pro LP/P - Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_066974 p.Ala583Pro LP/P - Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_079726 p.Pro29Thr US - - TCF7L1 Q9HCS4 VAR_035938 p.Thr147Asn US - A breast cancer sample TCF7L1 Q9HCS4 VAR_049561 p.Gly533Arg LB/B rs11547160 - TCF7L2 Q9NQB0 VAR_035939 p.Arg465Cys US - A colorectal cancer sample TCF7L2 Q9NQB0 VAR_047126 p.Lys346Asn LB/B rs2757884 - TCFL5 Q9UL49 VAR_049555 p.Glu380Asp LB/B rs34304654 - TCFL5 Q9UL49 VAR_061263 p.Asn272Asp LB/B rs17854409 - TCHH Q07283 VAR_047519 p.Leu63Arg LB/B rs2515663 - TCHH Q07283 VAR_047520 p.Val237Leu LB/B rs3134814 - TCHH Q07283 VAR_047521 p.Arg552Ser LB/B rs6680692 - TCHH Q07283 VAR_047522 p.Leu790Met LB/B rs11803731 - TCHH Q07283 VAR_047523 p.Leu1258Val LB/B rs2496253 - TCHH Q07283 VAR_047524 p.Lys1902Gln LB/B rs1131471 - TCHH Q07283 VAR_064757 p.Arg1400Pro US - - TCHHL1 Q5QJ38 VAR_044083 p.Ala193Gly LB/B rs16833835 - TCHP Q9BT92 VAR_053924 p.Lys127Arg LB/B rs10774978 - TCHP Q9BT92 VAR_053925 p.Glu417Lys LB/B rs16940680 - TCHP Q9BT92 VAR_064056 p.Ser44Pro US rs202208566 A gastric carcinoma sample TCHP Q9BT92 VAR_064057 p.Glu93Lys US rs200027650 A pancreatic carcinoma sample TCIM Q9NR00 VAR_050819 p.Val10Ile LB/B rs6474226 - TCIRG1 Q13488 VAR_019569 p.Gly405Arg LP/P rs137853150 Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700] TCIRG1 Q13488 VAR_019570 p.Arg444Leu LP/P rs137853151 Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700] TCIRG1 Q13488 VAR_020988 p.Ala141Pro LP/P - Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700] TCIRG1 Q13488 VAR_020990 p.Asp517Asn LP/P rs369264588 Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700] TCIRG1 Q13488 VAR_020991 p.Pro775Arg LP/P - Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700] TCIRG1 Q13488 VAR_054340 p.Arg56Trp LB/B rs36027301 - TCIRG1 Q13488 VAR_054341 p.Pro161Leu LB/B rs34227834 - TCL1A P56279 VAR_053718 p.Val56Ile LB/B rs17093294 - TCL1B O95988 VAR_020467 p.Gly93Arg LB/B rs1064017 - TCN1 P20061 VAR_031923 p.Arg35His LB/B rs34528912 - TCN1 P20061 VAR_031924 p.Asp301Tyr LB/B rs34324219 - TCN2 P20062 VAR_001638 p.Met198Thr LB/B - - TCN2 P20062 VAR_001639 p.Ile219Leu LB/B - - TCN2 P20062 VAR_001640 p.Arg259Pro LB/B rs1801198 - TCN2 P20062 VAR_001641 p.Leu376Ser LB/B rs1131603 - TCN2 P20062 VAR_054539 p.Ile23Val LB/B rs9606756 - TCN2 P20062 VAR_054540 p.Phe89Leu LB/B rs35915865 - TCN2 P20062 VAR_054541 p.Arg215Trp LB/B rs35838082 - TCN2 P20062 VAR_054542 p.Arg227Gln LB/B rs17849434 - TCN2 P20062 VAR_054543 p.Ser348Phe LB/B rs9621049 - TCN2 P20062 VAR_054544 p.Arg399Gln LB/B rs4820889 - TCOF1 Q13428 VAR_005630 p.Trp53Arg LP/P - Treacher Collins syndrome 1 (TCS1) [MIM:154500] TCOF1 Q13428 VAR_005631 p.Pro516Leu LB/B rs138645438 - TCOF1 Q13428 VAR_005632 p.Val887Ala LB/B rs7713638 - TCOF1 Q13428 VAR_005633 p.Ala1390Val LB/B rs15251 - TCOF1 Q13428 VAR_005634 p.Asp1432Gly LB/B rs151344580 - TCOF1 Q13428 VAR_029869 p.Ala665Pro LB/B rs2071240 - TCOF1 Q13428 VAR_035666 p.Arg1030Lys US rs1206146416 A colorectal cancer sample TCOF1 Q13428 VAR_057002 p.Ala221Pro LB/B rs11541811 - TCOF1 Q13428 VAR_059729 p.Pro1176Arg LB/B rs1136103 - TCOF1 Q13428 VAR_059730 p.Gly1280Arg LB/B rs11541812 - TCOF1 Q13428 VAR_061709 p.Gly1431Ala LB/B rs45491898 - TCP1 P17987 VAR_036258 p.Val7Leu US rs537218073 A breast cancer sample TCP10L Q8TDR4 VAR_016099 p.His145Arg LB/B rs9622 - TCP10L Q8TDR4 VAR_049089 p.Arg194His LB/B rs16989521 - TCP11 Q8WWU5 VAR_039692 p.Gly253Ala LB/B rs2234045 - TCP11 Q8WWU5 VAR_039693 p.Arg429Gln LB/B rs2234051 - TCP11L1 Q9NUJ3 VAR_037726 p.His109Gln LB/B rs16923785 - TCP11L1 Q9NUJ3 VAR_037727 p.Lys178Arg LB/B rs2273549 - TCP11L2 Q8N4U5 VAR_037728 p.Ala41Thr LB/B rs4964460 - TCP11L2 Q8N4U5 VAR_037729 p.Ala82Ser LB/B rs11837375 - TCP11L2 Q8N4U5 VAR_037730 p.Asp261Asn LB/B rs17218950 - TCTE1 Q5JU00 VAR_040073 p.Pro35Leu LB/B rs324146 - TCTE1 Q5JU00 VAR_040074 p.His53Arg LB/B rs17853373 - TCTE1 Q5JU00 VAR_040075 p.Phe261Ser LB/B rs2297336 - TCTN3 Q6NUS6 VAR_068823 p.Gly314Arg LP/P rs793888508 Joubert syndrome 18 (JBTS18) [MIM:614815] TCTN3 Q6NUS6 VAR_077521 p.Thr95Pro US rs749447795 - TDG Q13569 VAR_018892 p.Gly199Ser LB/B rs4135113 - TDG Q13569 VAR_018893 p.Val367Met LB/B rs2888805 - TDG Q13569 VAR_050140 p.Gly381Glu LB/B rs3953597 - TDG Q13569 VAR_059450 p.Val367Leu LB/B rs2888805 - TDO2 P48775 VAR_080251 p.Met108Ile LP/P rs1553957997 Hypertryptophanemia (HYPTRP) [MIM:600627] TDP1 Q9NUW8 VAR_017144 p.His493Arg LP/P rs119467003 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 (SCAN1) [MIM:607250] TDP1 Q9NUW8 VAR_017145 p.Pro566Leu LB/B rs767298655 - TDP1 Q9NUW8 VAR_025817 p.Glu95Asp LB/B rs35114462 - TDP1 Q9NUW8 VAR_025818 p.Pro101Leu LB/B rs35455108 - TDP1 Q9NUW8 VAR_025819 p.Ala134Thr LB/B rs28365054 - TDP1 Q9NUW8 VAR_025820 p.Asp187Gly LB/B rs35271143 - TDP1 Q9NUW8 VAR_025821 p.Arg304Gln LB/B rs34452707 - TDP1 Q9NUW8 VAR_025822 p.Thr569Ala LB/B rs35973343 - TDP2 O95551 VAR_022634 p.Gln249Glu LB/B rs2294689 - TDP2 O95551 VAR_022635 p.Arg268Gln LB/B rs17249952 - TDP2 O95551 VAR_051464 p.Ser166Gly LB/B rs35977478 - TDP2 O95551 VAR_076867 p.Ile307Val LB/B rs77273535 - TDRD1 Q9BXT4 VAR_057321 p.Val864Leu LB/B rs7914059 - TDRD1 Q9BXT4 VAR_057322 p.Tyr1138Cys LB/B rs34112549 - TDRD10 Q5VZ19 VAR_029817 p.Arg181Gln LB/B rs12750774 - TDRD10 Q5VZ19 VAR_029818 p.Val215Ile LB/B rs3811448 - TDRD5 Q8NAT2 VAR_031209 p.Met104Thr LB/B rs12066948 - TDRD5 Q8NAT2 VAR_031210 p.Lys358Glu LB/B rs6704505 - TDRD5 Q8NAT2 VAR_036706 p.Glu722Lys LB/B rs35448215 - TDRD5 Q8NAT2 VAR_052422 p.Phe239Val LB/B rs12069976 - TDRD6 O60522 VAR_029050 p.Arg192Gln LB/B rs7750596 - TDRD6 O60522 VAR_029051 p.Thr398Ala LB/B rs3799277 - TDRD6 O60522 VAR_029052 p.Gln1014Glu LB/B rs9381472 - TDRD6 O60522 VAR_052423 p.Ile795Met LB/B rs9463234 - TDRD7 Q8NHU6 VAR_019070 p.Val150Ala LB/B rs2045732 - TDRD7 Q8NHU6 VAR_033044 p.Pro456Leu LB/B rs17852595 - TDRKH Q9Y2W6 VAR_055980 p.Gly257Ala LB/B rs17853082 - TEAD1 P28347 VAR_031530 p.Tyr421His LP/P rs11567847 Sveinsson chorioretinal atrophy (SCRA) [MIM:108985] TEAD3 Q99594 VAR_052278 p.Thr254Met LB/B rs35080860 - TEAD4 Q15561 VAR_052279 p.Pro323Ser LB/B rs11550887 - TEC P42680 VAR_041850 p.Arg44Gln LB/B rs35374286 - TEC P42680 VAR_041851 p.Arg563Lys US - A lung adenocarcinoma sample TECPR1 Q7Z6L1 VAR_060190 p.Ser733Tyr LB/B rs35623371 - TECPR1 Q7Z6L1 VAR_062238 p.Pro944Leu LB/B rs11762014 - TECPR2 O15040 VAR_046529 p.Val320Ile LB/B rs1309353 - TECPR2 O15040 VAR_046530 p.Ala386Thr LB/B rs11845676 - TECPR2 O15040 VAR_046531 p.Pro439Ser LB/B rs2273906 - TECPR2 O15040 VAR_046532 p.Ile683Val LB/B rs10149146 - TECR Q9NZ01 VAR_065918 p.Pro182Leu LP/P rs199469705 Intellectual developmental disorder, autosomal recessive 14 (MRT14) [MIM:614020] TECRL Q5HYJ1 VAR_074183 p.Tyr169His LB/B - - TECRL Q5HYJ1 VAR_078556 p.Arg196Gln US rs773204795 Ventricular tachycardia, catecholaminergic polymorphic, 3 (CPVT3) [MIM:614021] TECTA O75443 VAR_018968 p.Arg371Gly LB/B rs612969 - TECTA O75443 VAR_018969 p.Val932Ala LB/B rs520805 - TECTA O75443 VAR_018970 p.Cys1057Ser LP/P rs121909059 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_018971 p.Cys1619Ser LP/P rs121909060 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_018972 p.Ser1724Asn LB/B rs526433 - TECTA O75443 VAR_018973 p.Leu1820Phe LP/P rs281865415 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_018974 p.Gly1824Asp LP/P rs267607107 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_018975 p.Cys1837Gly LP/P rs121909061 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_018976 p.Tyr1870Cys LP/P rs121909058 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_018977 p.Arg2021His LP/P rs121909062 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_018978 p.Ser2100Thr LB/B - - TECTA O75443 VAR_036423 p.Arg284His US rs886047837 A breast cancer sample TECTA O75443 VAR_036424 p.Ile771Asn US - A breast cancer sample TECTA O75443 VAR_036425 p.Asn813Thr US - A breast cancer sample TECTA O75443 VAR_057500 p.Gln19Arg LB/B rs35507522 - TECTA O75443 VAR_057501 p.Ser1584Thr LB/B rs34963131 - TECTA O75443 VAR_059965 p.Ser1878Arg LB/B rs202045605 - TECTA O75443 VAR_066076 p.Asp197Asn LP/P - Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066077 p.Phe211Ser LP/P - Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066078 p.Val317Glu LP/P - Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066079 p.Ser362Cys LP/P rs779123206 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066080 p.Asn465Lys LP/P - Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066081 p.Thr562Met LP/P rs779401654 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066082 p.Thr815Met LP/P rs111759871 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066083 p.Asn886Ser LP/P rs146175803 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066084 p.Cys1036Tyr LP/P rs772606235 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066085 p.Ala1098Val LP/P rs761524812 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066086 p.Asp1136His LP/P rs147890616 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066087 p.Pro1248Leu LP/P rs138768918 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066088 p.Cys1509Gly LP/P - Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066089 p.Cys1517Arg LP/P - Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066090 p.Pro1791Arg LP/P rs754213928 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066091 p.Cys1837Arg LP/P rs121909061 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066092 p.Thr1866Met LP/P rs140236996 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066093 p.His1867Arg LP/P - Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066094 p.Arg1890Cys LP/P rs121909063 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066095 p.Cys1898Arg LP/P - Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066096 p.Arg1947Cys LP/P rs1428598791 Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_066097 p.Ile2009Thr LP/P - Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] TEDC2 Q7L2K0 VAR_032115 p.Arg346Lys LB/B rs34948268 - TEDDM1 Q5T9Z0 VAR_035356 p.Tyr130His LB/B rs6674281 - TEFM Q96QE5 VAR_045689 p.Ile348Val LB/B rs2433 - TEFM Q96QE5 VAR_088801 p.Arg34Trp US - Combined oxidative phosphorylation deficiency 58 (COXPD58) [MIM:620451] TEFM Q96QE5 VAR_088802 p.Pro157Ala LP/P - Combined oxidative phosphorylation deficiency 58 (COXPD58) [MIM:620451] TEFM Q96QE5 VAR_088803 p.Ile159Lys LP/P - Combined oxidative phosphorylation deficiency 58 (COXPD58) [MIM:620451] TEFM Q96QE5 VAR_088805 p.Lys188Arg US - Combined oxidative phosphorylation deficiency 58 (COXPD58) [MIM:620451] TEK Q02763 VAR_006352 p.Arg849Trp LP/P rs80338908 Dominantly inherited venous malformations (VMCM) [MIM:600195] TEK Q02763 VAR_008716 p.Tyr897Ser LP/P rs80338909 Dominantly inherited venous malformations (VMCM) [MIM:600195] TEK Q02763 VAR_024578 p.Val486Ile LB/B rs1334811 - TEK Q02763 VAR_035714 p.Lys117Asn US - Breast cancer samples TEK Q02763 VAR_041855 p.Ile148Thr LB/B rs35969327 - TEK Q02763 VAR_041856 p.Ala226Val LB/B rs35814893 - TEK Q02763 VAR_041857 p.Val600Leu LB/B rs35030851 - TEK Q02763 VAR_041858 p.Leu634Phe LB/B rs35378598 - TEK Q02763 VAR_041859 p.Val676Ile LB/B rs56367117 - TEK Q02763 VAR_041860 p.Ala724Thr LB/B rs4631561 - TEK Q02763 VAR_041861 p.Pro883Ala US rs1490428165 An ovarian serous carcinoma sample TEK Q02763 VAR_041862 p.Ala1124Val US - A renal clear cell carcinoma sample TEK Q02763 VAR_048002 p.Gln346Pro LB/B rs682632 - TEK Q02763 VAR_048003 p.Thr391Ile LB/B rs34032300 - TEK Q02763 VAR_066606 p.Tyr897Cys LP/P rs80338909 Dominantly inherited venous malformations (VMCM) [MIM:600195] TEK Q02763 VAR_066607 p.Arg915His LP/P rs387906745 Dominantly inherited venous malformations (VMCM) [MIM:600195] TEK Q02763 VAR_066608 p.Arg918Cys LP/P rs1825683100 Dominantly inherited venous malformations (VMCM) [MIM:600195] TEK Q02763 VAR_066609 p.Val919Leu LP/P - Dominantly inherited venous malformations (VMCM) [MIM:600195] TEK Q02763 VAR_066610 p.Ala925Ser LP/P - Dominantly inherited venous malformations (VMCM) [MIM:600195] TEK Q02763 VAR_066611 p.Lys1100Asn LP/P - Dominantly inherited venous malformations (VMCM) [MIM:600195] TEK Q02763 VAR_078046 p.Cys233Tyr LP/P - Glaucoma 3, primary congenital, E (GLC3E) [MIM:617272] TEK Q02763 VAR_078047 p.Lys294Asn US rs146169480 Glaucoma 3, primary congenital, E (GLC3E) [MIM:617272] TEK Q02763 VAR_078048 p.Tyr611Cys LP/P rs1306527531 Glaucoma 3, primary congenital, E (GLC3E) [MIM:617272] TEK Q02763 VAR_078049 p.Tyr897Phe US - - TEK Q02763 VAR_078050 p.Tyr897His US - - TEK Q02763 VAR_078051 p.Leu914Phe LB/B rs1825682849 - TEK Q02763 VAR_078052 p.Arg915Cys LB/B rs1825682922 - TEK Q02763 VAR_078053 p.Arg915Leu US - - TEK Q02763 VAR_078054 p.Ser917Ile US - - TEKT1 Q969V4 VAR_022150 p.Arg254Cys LB/B rs3744395 - TEKT1 Q969V4 VAR_022151 p.Val332Ile LB/B rs2271233 - TEKT1 Q969V4 VAR_034548 p.Ile146Val LB/B rs34431552 - TEKT2 Q9UIF3 VAR_034549 p.Arg46Cys LB/B rs12043423 - TEKT2 Q9UIF3 VAR_053720 p.Ile114Thr LB/B rs419653 - TEKT3 Q9BXF9 VAR_024658 p.Gly282Ala LB/B rs230898 - TEKT3 Q9BXF9 VAR_024659 p.Val296Ala LB/B rs6502446 - TEKT3 Q9BXF9 VAR_034550 p.Glu410Asp LB/B rs35855709 - TEKT3 Q9BXF9 VAR_053721 p.Arg3His LB/B rs7226363 - TEKT3 Q9BXF9 VAR_088218 p.Arg183Gln US rs139570101 Spermatogenic failure 81 (SPGF81) [MIM:620277] TEKT3 Q9BXF9 VAR_088219 p.Gln251Pro US - Spermatogenic failure 81 (SPGF81) [MIM:620277] TEKT4 Q8WW24 VAR_029085 p.Thr83Met LB/B rs4854235 - TEKT4 Q8WW24 VAR_029086 p.Lys102Asn LB/B rs17802433 - TEKT4 Q8WW24 VAR_029087 p.Asn409Lys LB/B rs17120062 - TEKT4 Q8WW24 VAR_035941 p.Cys272Ser US - A breast cancer sample TEKT4 Q8WW24 VAR_062151 p.Ser100Gly LB/B rs11164112 - TEKT5 Q96M29 VAR_053722 p.Ala59Thr LB/B rs16957557 - TEKT5 Q96M29 VAR_053723 p.His196Arg LB/B rs16957546 - TEKT5 Q96M29 VAR_053724 p.Met239Thr LB/B rs17684500 - TEKT5 Q96M29 VAR_053725 p.Gln315Arg LB/B rs2719710 - TEKTIP1 A6NCJ1 VAR_061253 p.Pro83Leu LB/B rs12608919 - TEKTIP1 A6NCJ1 VAR_061254 p.Ala137Val LB/B rs6510758 - TEKTL1 Q8IYK2 VAR_030875 p.Asp434Glu LB/B rs17855585 - TEKTL1 Q8IYK2 VAR_030876 p.Ser444Thr LB/B rs8111625 - TEKTL1 Q8IYK2 VAR_030877 p.Pro499Thr LB/B rs8112667 - TEKTL1 Q8IYK2 VAR_056774 p.Val245Met LB/B rs35352238 - TEKTL1 Q8IYK2 VAR_056775 p.Met248Thr LB/B rs34375549 - TELO2 Q9Y4R8 VAR_038752 p.Glu7Gly LB/B rs2667661 - TELO2 Q9Y4R8 VAR_038753 p.Gln146Arg LB/B rs2235624 - TELO2 Q9Y4R8 VAR_038754 p.Gln674Arg LB/B rs2248128 - TELO2 Q9Y4R8 VAR_061839 p.Glu7Gln LB/B rs2667660 - TELO2 Q9Y4R8 VAR_061840 p.Ala511Val LB/B rs58099766 - TELO2 Q9Y4R8 VAR_077025 p.Pro260Leu LP/P rs369656775 You-Hoover-Fong syndrome (YHFS) [MIM:616954] TELO2 Q9Y4R8 VAR_077026 p.Cys367Phe LP/P rs202020308 You-Hoover-Fong syndrome (YHFS) [MIM:616954] TELO2 Q9Y4R8 VAR_077027 p.Arg609His LP/P rs754162070 You-Hoover-Fong syndrome (YHFS) [MIM:616954] TELO2 Q9Y4R8 VAR_077028 p.Asp720Val LP/P rs878853271 You-Hoover-Fong syndrome (YHFS) [MIM:616954] TELO2 Q9Y4R8 VAR_077029 p.Val766Met LP/P rs371675497 You-Hoover-Fong syndrome (YHFS) [MIM:616954] TENM1 Q9UKZ4 VAR_036596 p.Leu342Phe US - A breast cancer sample TENM1 Q9UKZ4 VAR_036597 p.Val1216Ile US rs137882910 A breast cancer sample TENM1 Q9UKZ4 VAR_036598 p.Phe1482Val US - A colorectal cancer sample TENM1 Q9UKZ4 VAR_036599 p.Gln2235His US - A breast cancer sample TENM1 Q9UKZ4 VAR_036600 p.Leu2396Phe US - A colorectal cancer sample TENM1 Q9UKZ4 VAR_053792 p.Tyr40His LB/B rs36065191 - TENM1 Q9UKZ4 VAR_053793 p.Met371Thr LB/B rs2213591 - TENM1 Q9UKZ4 VAR_053794 p.Met632Val LB/B rs16999334 - TENM1 Q9UKZ4 VAR_053795 p.Lys641Glu LB/B rs6649271 - TENM1 Q9UKZ4 VAR_076255 p.Ala174Asp LB/B rs139486546 - TENM2 Q9NT68 VAR_028946 p.Val1719Phe LB/B rs11957063 - TENM2 Q9NT68 VAR_060129 p.Asn728Ser LB/B rs6862925 - TENM3 Q9P273 VAR_053796 p.Ser385Cys LB/B rs3749509 - TENM3 Q9P273 VAR_083251 p.Ala1349Gly US rs1243762658 Microphthalmia, syndromic, 15 (MCOPS15) [MIM:615145] TENM3 Q9P273 VAR_083252 p.Arg2563Trp US rs755000701 Microphthalmia, syndromic, 15 (MCOPS15) [MIM:615145] TENM4 Q6N022 VAR_060130 p.Val396Ile LB/B rs3812723 - TENM4 Q6N022 VAR_060131 p.Glu506Gln LB/B rs17137261 - TENM4 Q6N022 VAR_062167 p.Arg14Gln LB/B rs58537389 - TENM4 Q6N022 VAR_076521 p.Val1138Met LP/P rs538881762 Tremor, hereditary essential 5 (ETM5) [MIM:616736] TENM4 Q6N022 VAR_076522 p.Thr1367Asn LP/P rs763485258 Tremor, hereditary essential 5 (ETM5) [MIM:616736] TENM4 Q6N022 VAR_076523 p.Ala1442Thr LP/P rs375681722 Tremor, hereditary essential 5 (ETM5) [MIM:616736] TENM4 Q6N022 VAR_076654 p.Arg53Pro US rs760852624 Tremor, hereditary essential 5 (ETM5) [MIM:616736] TENM4 Q6N022 VAR_076655 p.Ala474Asp US - Tremor, hereditary essential 5 (ETM5) [MIM:616736] TENM4 Q6N022 VAR_076656 p.Arg518Gln US rs201191369 Tremor, hereditary essential 5 (ETM5) [MIM:616736] TENM4 Q6N022 VAR_076657 p.Val1128Met US rs556858741 Tremor, hereditary essential 5 (ETM5) [MIM:616736] TENM4 Q6N022 VAR_076658 p.Lys1535Gln US rs770111861 Tremor, hereditary essential 5 (ETM5) [MIM:616736] TENM4 Q6N022 VAR_076659 p.Arg1632His US rs199687168 Tremor, hereditary essential 5 (ETM5) [MIM:616736] TENM4 Q6N022 VAR_076660 p.Gly1763Arg US rs201995608 Tremor, hereditary essential 5 (ETM5) [MIM:616736] TENM4 Q6N022 VAR_076661 p.Met2451Ile US rs201769315 Tremor, hereditary essential 5 (ETM5) [MIM:616736] TENM4 Q6N022 VAR_085138 p.Gly519Glu US rs1591072819 - TENT4A Q5XG87 VAR_021175 p.Asn576Ser LB/B rs28381415 - TENT4A Q5XG87 VAR_021176 p.Gly646Ser LB/B rs28381418 - TENT5A Q96IP4 VAR_028979 p.Thr313Ala LB/B - - TENT5A Q96IP4 VAR_080798 p.His127Arg US rs1187611948 Osteogenesis imperfecta 18 (OI18) [MIM:617952] TENT5A Q96IP4 VAR_080799 p.Asp231Gly US rs1554200371 Osteogenesis imperfecta 18 (OI18) [MIM:617952] TENT5C Q5VWP2 VAR_060132 p.His67Gln LB/B rs1630312 - TENT5D Q8NEK8 VAR_028980 p.Asp185Glu LB/B rs1113265 - TEP1 Q99973 VAR_018490 p.Ser116Pro LB/B rs1760897 - TEP1 Q99973 VAR_018491 p.Asn307Lys LB/B rs1760898 - TEP1 Q99973 VAR_018492 p.Arg1055Cys LB/B rs1760903 - TEP1 Q99973 VAR_018493 p.Ser1195Pro LB/B rs1760904 - TEP1 Q99973 VAR_018494 p.Ser1447Thr LB/B rs1713457 - TEP1 Q99973 VAR_018495 p.Cys1468Tyr LB/B rs1713456 - TEP1 Q99973 VAR_018496 p.Val2214Ile LB/B rs1713449 - TEP1 Q99973 VAR_018497 p.Ile2486Met LB/B rs938886 - TEP1 Q99973 VAR_018498 p.His2562Arg LB/B rs2104978 - TEP1 Q99973 VAR_047631 p.Thr137Met LB/B rs10083536 - TEP1 Q99973 VAR_047632 p.Lys368Arg LB/B rs2228035 - TEP1 Q99973 VAR_047633 p.Lys434Asn LB/B rs17111188 - TEP1 Q99973 VAR_047634 p.Ser510Leu LB/B rs4982051 - TEP1 Q99973 VAR_047635 p.Ala553Gly LB/B rs76466486 - TEP1 Q99973 VAR_047636 p.Arg933His LB/B rs34179031 - TEP1 Q99973 VAR_047637 p.Arg1155Gln LB/B rs2228041 - TEP1 Q99973 VAR_047638 p.Arg1351Gln LB/B rs12886088 - TEP1 Q99973 VAR_047639 p.Gly1408Arg LB/B rs2229100 - TEP1 Q99973 VAR_047640 p.Arg1661Gln LB/B rs34401320 - TEP1 Q99973 VAR_047641 p.Arg1772Gln LB/B rs8022805 - TEP1 Q99973 VAR_047642 p.Ala2310Ser LB/B rs35929175 - TERB1 Q8NA31 VAR_086535 p.Glu326Gly US - Spermatogenic failure 60 (SPGF60) [MIM:619646] TERB1 Q8NA31 VAR_087422 p.Ala79Val US - Spermatogenic failure 60 (SPGF60) [MIM:619646] TERB2 Q8NHR7 VAR_029614 p.Pro31Arg LB/B rs11638723 - TERB2 Q8NHR7 VAR_076385 p.Ser103Arg LB/B - - TERB2 Q8NHR7 VAR_076386 p.His190Asn LB/B rs1248475666 - TERF2 Q15554 VAR_050196 p.Ser455Gly LB/B rs35874485 - TERF2IP Q9NYB0 VAR_050195 p.Lys324Glu LB/B rs4888444 - TERT O14746 VAR_025149 p.His412Tyr LP/P rs34094720 Aplastic anemia (AA) [MIM:609135] TERT O14746 VAR_025149 p.His412Tyr LP/P rs34094720 Dyskeratosis congenita, autosomal recessive, 4 (DKCB4) [MIM:613989] TERT O14746 VAR_025149 p.His412Tyr LP/P rs34094720 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_025150 p.Ala1062Thr LB/B rs35719940 - TERT O14746 VAR_036863 p.Ala202Thr LP/P rs121918661 Aplastic anemia (AA) [MIM:609135] TERT O14746 VAR_036863 p.Ala202Thr LP/P rs121918661 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_036864 p.Ala279Thr LB/B rs61748181 - TERT O14746 VAR_036866 p.Val694Met LP/P rs121918662 Aplastic anemia (AA) [MIM:609135] TERT O14746 VAR_036866 p.Val694Met LP/P rs121918662 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_036867 p.Tyr772Cys LP/P rs121918663 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_036868 p.Arg865His LP/P rs121918666 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_036869 p.Lys902Asn LP/P rs121918665 Dyskeratosis congenita, autosomal dominant, 2 (DKCA2) [MIM:613989] TERT O14746 VAR_036870 p.Val1090Met LP/P rs121918664 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_053726 p.Ser948Arg LB/B rs34062885 - TERT O14746 VAR_062535 p.Leu55Gln LP/P rs387907247 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_062536 p.Lys570Asn LP/P - Aplastic anemia (AA) [MIM:609135] TERT O14746 VAR_062537 p.Gly682Asp LP/P rs199422295 Aplastic anemia (AA) [MIM:609135] TERT O14746 VAR_062538 p.Pro721Arg LP/P rs199422299 Dyskeratosis congenita, autosomal recessive, 4 (DKCB4) [MIM:613989] TERT O14746 VAR_062539 p.Thr726Met LP/P rs149566858 Aplastic anemia (AA) [MIM:609135] TERT O14746 VAR_062540 p.Arg811Cys LP/P rs199422301 Dyskeratosis congenita, autosomal recessive, 4 (DKCB4) [MIM:613989] TERT O14746 VAR_062541 p.Arg901Trp LP/P rs199422304 Dyskeratosis congenita, autosomal recessive, 4 (DKCB4) [MIM:613989] TERT O14746 VAR_062542 p.Arg979Trp LP/P rs199422305 Dyskeratosis congenita, autosomal dominant, 2 (DKCA2) [MIM:613989] TERT O14746 VAR_062543 p.Thr1110Met US rs199422306 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_062544 p.Phe1127Leu LP/P rs1176273130 Dyskeratosis congenita, autosomal dominant, 2 (DKCA2) [MIM:613989] TERT O14746 VAR_062780 p.Pro65Ala LB/B rs544215765 - TERT O14746 VAR_062781 p.Val299Met LB/B rs756624928 - TERT O14746 VAR_062782 p.Arg522Lys LB/B rs1751108994 - TERT O14746 VAR_062783 p.Arg631Gln LP/P rs199422294 Aplastic anemia (AA) [MIM:609135] TERT O14746 VAR_062784 p.Pro785Leu LP/P rs483352771 Aplastic anemia (AA) [MIM:609135] TERT O14746 VAR_068792 p.Val170Met LP/P rs387907248 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_068793 p.Pro704Ser LP/P rs199422297 Dyskeratosis congenita, autosomal recessive, 4 (DKCB4) [MIM:613989] TERT O14746 VAR_068794 p.Ala716Thr LP/P rs387907249 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_068795 p.Val791Ile LP/P rs141425941 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_068796 p.Leu841Phe LP/P - Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_068797 p.Val867Met LP/P rs201159197 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_068798 p.Lys902Arg LP/P rs387907250 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_068799 p.Pro923Leu LP/P rs387907251 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_068800 p.Val1025Phe LP/P - Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_084996 p.Arg381Pro LB/B rs777343359 - TES Q9UGI8 VAR_050170 p.Ala221Val LB/B rs2272193 - TESK1 Q15569 VAR_035638 p.His539Tyr US rs1373248755 Breast cancer samples TESK1 Q15569 VAR_041213 p.Gly574Ser LB/B rs55673450 - TESK2 Q96S53 VAR_041214 p.Gly11Ala US rs1428512439 A breast infiltrating ductal carcinoma sample TESMIN Q9Y4I5 VAR_054067 p.Cys223Arg LB/B rs12365708 - TESMIN Q9Y4I5 VAR_062236 p.Val260Ala LB/B rs35773957 - TESPA1 A2RU30 VAR_049513 p.Glu496Lys LB/B rs997173 - TET1 Q8NFU7 VAR_027734 p.Asp162Gly LB/B rs10823229 - TET1 Q8NFU7 VAR_027735 p.Ser193Thr LB/B rs12773594 - TET1 Q8NFU7 VAR_027736 p.Ala256Val LB/B rs12221107 - TET1 Q8NFU7 VAR_027737 p.Asn1018Ser LB/B rs16925541 - TET1 Q8NFU7 VAR_027738 p.Ile1123Met LB/B rs3998860 - TET1 Q8NFU7 VAR_080763 p.Lys2056Asn US - - TET2 Q6N021 VAR_039841 p.Pro29Arg LB/B rs12498609 - TET2 Q6N021 VAR_039842 p.Val218Met LB/B rs6843141 - TET2 Q6N021 VAR_039843 p.Pro363Leu LB/B rs17253672 - TET2 Q6N021 VAR_039844 p.Ala912Gly LB/B rs4145756 - TET2 Q6N021 VAR_058130 p.Arg123His LB/B rs773565437 - TET2 Q6N021 VAR_058131 p.Ala308Thr US rs569067880 Acute myeloid leukemia samples TET2 Q6N021 VAR_058131 p.Ala308Thr US rs569067880 Chronic myelomonocytic leukemia TET2 Q6N021 VAR_058132 p.Gly355Asp LB/B rs61744960 - TET2 Q6N021 VAR_058133 p.Pro399Leu US - - TET2 Q6N021 VAR_058134 p.Gly429Arg LB/B rs201642693 - TET2 Q6N021 VAR_058135 p.Ser817Thr LB/B rs753786455 - TET2 Q6N021 VAR_058136 p.His924Arg LB/B rs34485921 - TET2 Q6N021 VAR_058137 p.His949Arg LB/B rs778464072 - TET2 Q6N021 VAR_058138 p.Arg1167Thr US - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058139 p.Ile1175Val US - - TET2 Q6N021 VAR_058141 p.Arg1261Leu US - - TET2 Q6N021 VAR_058143 p.Phe1287Leu US - - TET2 Q6N021 VAR_058144 p.Trp1291Arg US - - TET2 Q6N021 VAR_058145 p.Lys1299Glu US - - TET2 Q6N021 VAR_058146 p.Lys1299Asn US - Chronic myelomonocytic leukemia samples TET2 Q6N021 VAR_058147 p.Arg1302Gly US - Chronic myelomonocytic leukemia samples TET2 Q6N021 VAR_058148 p.Glu1318Gly US - Chronic myelomonocytic leukemia samples TET2 Q6N021 VAR_058149 p.Pro1367Ser US - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058150 p.Cys1396Trp US - - TET2 Q6N021 VAR_058151 p.Leu1398Arg US - - TET2 Q6N021 VAR_058152 p.His1757Asp US - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058153 p.Cys1811Arg US - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058154 p.Gln1828Leu US - - TET2 Q6N021 VAR_058155 p.Gly1869Trp LB/B rs1453845082 - TET2 Q6N021 VAR_058156 p.Leu1872Pro US - - TET2 Q6N021 VAR_058157 p.Ile1873Thr US rs116519313 Chronic myelomonocytic leukemia TET2 Q6N021 VAR_058158 p.His1881Arg LB/B rs1417392445 - TET2 Q6N021 VAR_058159 p.Arg1896Met US - A primary acute myeloid leukemia sample TET2 Q6N021 VAR_058160 p.Ser1898Phe US rs767475870 A secondary acute myeloid leukemia sample TET2 Q6N021 VAR_058161 p.Val1900Ala LB/B - - TET2 Q6N021 VAR_058163 p.Gly1913Asp US - - TET2 Q6N021 VAR_058164 p.Ala1919Val LB/B rs1163887807 - TET2 Q6N021 VAR_058165 p.Arg1926His US rs1316795626 A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058166 p.Pro1941Ser US rs1283441077 A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058167 p.Pro1962Leu LB/B rs200971953 - TET2 Q6N021 VAR_058168 p.Arg1966His US rs754215085 A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058169 p.Arg1974Met US rs1406914931 A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058170 p.Arg2000Lys LB/B - - TET2 Q6N021 VAR_058171 p.Leu34Phe LB/B rs111948941 - TET2 Q6N021 VAR_058172 p.Ser145Asn US rs114619974 A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058173 p.Pro174His LB/B rs146031219 - TET2 Q6N021 VAR_058174 p.Asn312Ser US - An acute myeloid leukemia sample TET2 Q6N021 VAR_058175 p.Ser460Phe US rs376570662 A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058176 p.Asp666Gly US - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058177 p.Tyr867His LB/B rs144386291 - TET2 Q6N021 VAR_058178 p.Pro941Ser US rs532738858 A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058179 p.Glu1073Val LB/B - - TET2 Q6N021 VAR_058180 p.Gln1084Pro LB/B rs75056899 - TET2 Q6N021 VAR_058181 p.Cys1135Tyr LB/B rs769422572 - TET2 Q6N021 VAR_058182 p.Ser1204Cys US - - TET2 Q6N021 VAR_058183 p.Arg1214Trp LB/B rs761811530 - TET2 Q6N021 VAR_058184 p.Asp1242Val US - - TET2 Q6N021 VAR_058185 p.Tyr1245Ser US - - TET2 Q6N021 VAR_058186 p.Arg1261Cys LB/B rs898441677 - TET2 Q6N021 VAR_058187 p.Arg1261His US rs771761785 A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058188 p.Val1417Phe US rs749210253 A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058189 p.Met1701Ile LB/B rs62623390 - TET2 Q6N021 VAR_058190 p.Val1718Leu LB/B rs142312318 - TET2 Q6N021 VAR_058191 p.Leu1721Trp LB/B rs34402524 - TET2 Q6N021 VAR_058192 p.Pro1723Ser LB/B rs146348065 - TET2 Q6N021 VAR_058193 p.Ile1762Val LB/B rs2454206 - TET2 Q6N021 VAR_058194 p.His1778Arg LB/B rs62621450 - TET2 Q6N021 VAR_058195 p.Cys1875Arg US - - TET2 Q6N021 VAR_058196 p.His1881Gln US - - TET2 Q6N021 VAR_058197 p.Arg1896Ser US - - TET2 Q6N021 VAR_058198 p.Asp1242Arg US - - TET2 Q6N021 VAR_085544 p.His1382Arg LP/P - Immunodeficiency 75 with lymphoproliferation (IMD75) [MIM:619126] TET3 O43151 VAR_062235 p.Arg712Gln LB/B rs57955681 - TET3 O43151 VAR_083831 p.Arg752Cys US rs534089911 Beck-Fahrner syndrome (BEFAHRS) [MIM:618798] TET3 O43151 VAR_083832 p.Thr851Met LP/P rs1573856970 Beck-Fahrner syndrome (BEFAHRS) [MIM:618798] TET3 O43151 VAR_083833 p.Val908Leu LP/P rs1227643933 Beck-Fahrner syndrome (BEFAHRS) [MIM:618798] TET3 O43151 VAR_083834 p.Phe1072Cys LP/P rs1573906351 Beck-Fahrner syndrome (BEFAHRS) [MIM:618798] TET3 O43151 VAR_083835 p.Ala1076Thr LP/P rs1573906389 Beck-Fahrner syndrome (BEFAHRS) [MIM:618798] TET3 O43151 VAR_083836 p.Val1089Met LP/P rs1174857008 Beck-Fahrner syndrome (BEFAHRS) [MIM:618798] TET3 O43151 VAR_083837 p.Pro1677Leu LP/P rs1691236972 Beck-Fahrner syndrome (BEFAHRS) [MIM:618798] TEX101 Q9BY14 VAR_059883 p.Gly99Val LB/B rs35033974 - TEX11 Q8IYF3 VAR_034635 p.Lys130Arg LB/B rs6525433 - TEX11 Q8IYF3 VAR_034636 p.Glu451Lys LB/B rs4844247 - TEX11 Q8IYF3 VAR_073889 p.Met171Val LP/P rs143246552 Spermatogenic failure, X-linked, 2 (SPGFX2) [MIM:309120] TEX11 Q8IYF3 VAR_073890 p.Ala698Thr LP/P rs140984555 Spermatogenic failure, X-linked, 2 (SPGFX2) [MIM:309120] TEX14 Q8IWB6 VAR_041388 p.Asp88Gly LB/B rs56292204 - TEX14 Q8IWB6 VAR_041389 p.Lys321Glu US - A gastric adenocarcinoma sample TEX14 Q8IWB6 VAR_041390 p.Ser443Cys LB/B - - TEX14 Q8IWB6 VAR_041391 p.Ile559Met LB/B - - TEX15 Q9BXT5 VAR_060394 p.Cys104Arg LB/B rs323347 - TEX15 Q9BXT5 VAR_060395 p.Pro383Leu LB/B rs9297162 - TEX15 Q9BXT5 VAR_060396 p.Ile1035Val LB/B rs323346 - TEX15 Q9BXT5 VAR_060397 p.Asn1311Ser LB/B rs323345 - TEX15 Q9BXT5 VAR_060398 p.Leu1337Val LB/B rs323344 - TEX15 Q9BXT5 VAR_060399 p.Lys1439Arg LB/B rs323343 - TEX15 Q9BXT5 VAR_061711 p.Asp2138Asn LB/B rs60474250 - TEX2 Q8IWB9 VAR_061712 p.Thr158Ile LB/B rs28605685 - TEX26 Q8N6G2 VAR_029615 p.Lys231Asn LB/B rs9533168 - TEX264 Q9Y6I9 VAR_061718 p.Gly292Glu LB/B rs11553574 - TEX35 Q5T0J7 VAR_027656 p.Glu55Gly LB/B rs16852957 - TEX35 Q5T0J7 VAR_027657 p.Ala146Gly LB/B rs12079481 - TEX35 Q5T0J7 VAR_027658 p.Leu171Arg LB/B rs3813636 - TEX35 Q5T0J7 VAR_059592 p.Leu171Pro LB/B rs3813636 - TEX36 Q5VZQ5 VAR_059615 p.Glu38Gln LB/B rs9422915 - TEX38 Q6PEX7 VAR_039405 p.Asp104Glu LB/B rs614486 - TEX38 Q6PEX7 VAR_039406 p.Ala199Val LB/B rs1025806 - TEX44 Q53QW1 VAR_036894 p.Val11Leu LB/B rs16828251 - TEX44 Q53QW1 VAR_036895 p.Gln79Arg LB/B rs16828254 - TEX44 Q53QW1 VAR_036896 p.Glu168Lys LB/B rs16828257 - TEX44 Q53QW1 VAR_036897 p.Ser261Pro LB/B rs10933378 - TEX47 Q8TBZ9 VAR_039351 p.Asp48His LB/B rs2373396 - TEX47 Q8TBZ9 VAR_039352 p.Ile126Val LB/B rs2293583 - TEX47 Q8TBZ9 VAR_039353 p.Cys186Ser LB/B rs34276371 - TEX47 Q8TBZ9 VAR_039354 p.Glu221Lys LB/B rs2373397 - TEX47 Q8TBZ9 VAR_039355 p.Glu221Ala LB/B rs2373398 - TEX55 Q96M34 VAR_028841 p.Asn45Thr LB/B rs4687838 - TEX55 Q96M34 VAR_028842 p.Asp99Gly LB/B rs11550908 - TEX55 Q96M34 VAR_028843 p.Gln193His LB/B rs9859242 - TEX55 Q96M34 VAR_028844 p.Gly312Ser LB/B rs4077930 - TEX55 Q96M34 VAR_028845 p.Asp473Glu LB/B rs9289122 - TEX55 Q96M34 VAR_061574 p.Ser447Leu LB/B rs56317615 - TF P02787 VAR_007544 p.Asp296Gly LB/B rs8177238 - TF P02787 VAR_007545 p.His319Arg LB/B rs41295774 - TF P02787 VAR_011997 p.Gly142Ser LB/B rs1799830 - TF P02787 VAR_011998 p.Gly277Ser LB/B rs1799899 - TF P02787 VAR_011999 p.Trp377Cys LB/B rs1804498 - TF P02787 VAR_012000 p.Pro589Ser LB/B rs1049296 - TF P02787 VAR_012001 p.Thr645Pro LB/B rs1130537 - TF P02787 VAR_012997 p.Ala477Pro LP/P rs121918679 Atransferrinemia (ATRAF) [MIM:209300] TF P02787 VAR_012998 p.Lys646Glu LB/B rs121918678 - TF P02787 VAR_012999 p.Gly671Glu LB/B rs121918677 - TF P02787 VAR_029280 p.Ser55Arg LB/B rs8177318 - TF P02787 VAR_034569 p.Arg42Leu LB/B rs41298293 - TF P02787 VAR_034570 p.Ala76Val LB/B rs41298977 - TF P02787 VAR_034571 p.Gly562Val LB/B rs41296590 - TF P02787 VAR_038810 p.Asp77Asn LP/P rs121918681 Atransferrinemia (ATRAF) [MIM:209300] TF P02787 VAR_058199 p.Val448Ile LB/B rs2692696 - TFAM Q00059 VAR_016124 p.Ser12Thr LB/B rs1937 - TFAM Q00059 VAR_077842 p.Pro178Leu LP/P rs757075712 Mitochondrial DNA depletion syndrome 15, hepatocerebral type (MTDPS15) [MIM:617156] TFAP2A P05549 VAR_045838 p.Leu249Pro LP/P - Branchiooculofacial syndrome (BOFS) [MIM:113620] TFAP2A P05549 VAR_045839 p.Arg254Gly LP/P rs151344528 Branchiooculofacial syndrome (BOFS) [MIM:113620] TFAP2A P05549 VAR_045840 p.Arg255Gly LP/P rs121909574 Branchiooculofacial syndrome (BOFS) [MIM:113620] TFAP2A P05549 VAR_045841 p.Gly262Glu LP/P rs121909575 Branchiooculofacial syndrome (BOFS) [MIM:113620] TFAP2B Q92481 VAR_011318 p.Ala275Asp LP/P rs80338914 Char syndrome (CHAR) [MIM:169100] TFAP2B Q92481 VAR_011319 p.Arg300Cys LP/P rs80338917 Char syndrome (CHAR) [MIM:169100] TFAP2B Q92481 VAR_016977 p.Pro73Arg LP/P rs80338910 Char syndrome (CHAR) [MIM:169100] TFAP2B Q92481 VAR_016978 p.Arg236Cys LP/P rs80338912 Char syndrome (CHAR) [MIM:169100] TFAP2B Q92481 VAR_016979 p.Arg236Ser LP/P rs80338912 Char syndrome (CHAR) [MIM:169100] TFAP2B Q92481 VAR_016980 p.Arg285Gln LP/P rs80338915 Char syndrome (CHAR) [MIM:169100] TFAP2D Q7Z6R9 VAR_036975 p.Val214Phe US - A breast cancer sample TFAP4 Q01664 VAR_059346 p.Gln218His LB/B rs251732 - TFB1M Q8WVM0 VAR_071246 p.Ala120Pro LB/B rs144355958 - TFB1M Q8WVM0 VAR_071247 p.Thr211Ala LB/B rs769497533 - TFB1M Q8WVM0 VAR_071248 p.Arg256Gln LB/B rs73579353 - TFB2M Q9H5Q4 VAR_030097 p.Pro156Leu LB/B rs11585481 - TFB2M Q9H5Q4 VAR_030098 p.His264Tyr LB/B rs12037377 - TFB2M Q9H5Q4 VAR_071249 p.Ser48Phe LB/B rs148620105 - TFB2M Q9H5Q4 VAR_071250 p.Ala64Thr LB/B rs143880306 - TFDP1 Q14186 VAR_029293 p.Asp401Asn LB/B rs4150823 - TFDP2 Q14188 VAR_002272 p.Ile64Thr LB/B rs748095099 - TFDP2 Q14188 VAR_020567 p.Pro81Ser LB/B rs11569200 - TFE3 P19532 VAR_027501 p.Ser96Cys LB/B rs5953258 - TFE3 P19532 VAR_027502 p.Thr313Ala LB/B rs3027470 - TFE3 P19532 VAR_086338 p.Arg117Gln LP/P - Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies (MRXSPF) [MIM:301066] TFE3 P19532 VAR_086339 p.Gln119Pro LP/P - Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies (MRXSPF) [MIM:301066] TFE3 P19532 VAR_086340 p.Glu184Gly LP/P - Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies (MRXSPF) [MIM:301066] TFE3 P19532 VAR_086341 p.Pro186Leu LP/P - Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies (MRXSPF) [MIM:301066] TFE3 P19532 VAR_086342 p.Thr187Lys LP/P - Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies (MRXSPF) [MIM:301066] TFE3 P19532 VAR_086343 p.Thr187Met LP/P rs2064742925 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies (MRXSPF) [MIM:301066] TFE3 P19532 VAR_086344 p.Thr187Pro LP/P - Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies (MRXSPF) [MIM:301066] TFE3 P19532 VAR_086345 p.Thr187Arg LP/P - Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies (MRXSPF) [MIM:301066] TFE3 P19532 VAR_086346 p.Tyr189Cys LP/P rs2064742830 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies (MRXSPF) [MIM:301066] TFE3 P19532 VAR_086347 p.His190Gln LP/P - Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies (MRXSPF) [MIM:301066] TFE3 P19532 VAR_086348 p.Leu191Pro LP/P - Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies (MRXSPF) [MIM:301066] TFE3 P19532 VAR_086349 p.Gln201Pro LP/P - Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies (MRXSPF) [MIM:301066] TFEC O14948 VAR_037661 p.Gln6His LB/B rs35695387 - TFEC O14948 VAR_037662 p.Gly100Ser LB/B rs35170691 - TFEC O14948 VAR_037663 p.Leu146Val US - A colorectal cancer sample TFF1 P04155 VAR_015281 p.Thr32Ile US - A gastric carcinoma sample TFF1 P04155 VAR_015282 p.Thr32Lys US - A gastric carcinoma sample TFF1 P04155 VAR_015283 p.Ala34Asp US rs961505229 A gastric carcinoma sample TFF1 P04155 VAR_015284 p.Glu37Lys US - A gastric carcinoma sample TFF1 P04155 VAR_015285 p.Val46Ile US - - TFF1 P04155 VAR_015286 p.Gly55Val US rs1203145163 A gastric carcinoma sample TFF1 P04155 VAR_053563 p.Thr22Ile LB/B rs34795821 - TFF2 Q03403 VAR_053564 p.Arg3Trp LB/B rs7277409 - TFG Q92734 VAR_035668 p.Ala149Ser US - A colorectal cancer sample TFG Q92734 VAR_054322 p.Ala211Val LB/B rs430945 - TFG Q92734 VAR_054323 p.Thr364Pro LB/B rs6772054 - TFG Q92734 VAR_068917 p.Pro285Leu LP/P rs207482230 Neuropathy, hereditary motor and sensory, Okinawa type (HMSNO) [MIM:604484] TFG Q92734 VAR_070986 p.Arg106Cys LP/P rs587777175 Spastic paraplegia 57, autosomal recessive (SPG57) [MIM:615658] TFG Q92734 VAR_078075 p.Arg106His LP/P rs376971794 Spastic paraplegia 57, autosomal recessive (SPG57) [MIM:615658] TFG Q92734 VAR_082155 p.Arg107Pro US - Spastic paraplegia 57, autosomal recessive (SPG57) [MIM:615658] TFIP11 Q9UBB9 VAR_054069 p.Asn177Ser LB/B rs6005062 - TFPI P10646 VAR_012004 p.Val292Met LB/B rs5940 - TFPI2 P48307 VAR_012005 p.Val102Ala LB/B rs1804202 - TFPI2 P48307 VAR_050064 p.Arg231Gln LB/B rs12669450 - TFR2 Q9UP52 VAR_012738 p.Met172Lys LP/P rs80338879 Hemochromatosis 3 (HFE3) [MIM:604250] TFR2 Q9UP52 VAR_034122 p.Asp230Glu LB/B rs41303465 - TFR2 Q9UP52 VAR_034123 p.Ile238Met LB/B rs34242818 - TFR2 Q9UP52 VAR_034124 p.Arg752His LB/B rs41295942 - TFR2 Q9UP52 VAR_042515 p.Val22Ile LP/P rs80338876 Hemochromatosis 3 (HFE3) [MIM:604250] TFR2 Q9UP52 VAR_042516 p.Arg455Gln LB/B rs41303501 - TFR2 Q9UP52 VAR_042517 p.Gln690Pro LP/P rs80338889 Hemochromatosis 3 (HFE3) [MIM:604250] TFRC P02786 VAR_012737 p.Gly142Ser LB/B rs3817672 - TFRC P02786 VAR_051806 p.Leu212Val LB/B rs41301381 - TFRC P02786 VAR_051807 p.Gly420Ser LB/B rs41295879 - TFRC P02786 VAR_051808 p.Arg677His LB/B rs41298067 - TFRC P02786 VAR_076365 p.Tyr20His LP/P rs863225436 Immunodeficiency 46 (IMD46) [MIM:616740] TG P01266 VAR_002365 p.Gln870His LB/B rs2229843 - TG P01266 VAR_010212 p.Gln135His LB/B rs2069546 - TG P01266 VAR_010213 p.Ser734Ala LP/P rs180223 Autoimmune thyroid disease 3 (AITD3) [MIM:608175] TG P01266 VAR_010214 p.Gln830Glu LB/B rs2076737 - TG P01266 VAR_010215 p.Met1028Val US rs853326 Autoimmune thyroid disease 3 (AITD3) [MIM:608175] TG P01266 VAR_010216 p.Cys1264Arg LP/P rs2076738 Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] TG P01266 VAR_010217 p.Asp1312Gly LB/B rs2069556 - TG P01266 VAR_010218 p.Asp1838Asn LB/B rs2069561 - TG P01266 VAR_010219 p.Cys1996Ser LP/P rs2076739 Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] TG P01266 VAR_010220 p.Arg1999Trp LP/P rs2076740 Autoimmune thyroid disease 3 (AITD3) [MIM:608175] TG P01266 VAR_010220 p.Arg1999Trp LP/P rs2076740 Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] TG P01266 VAR_010221 p.Trp2501Arg LB/B rs2069569 - TG P01266 VAR_010222 p.Arg2530Gln LB/B rs1133076 - TG P01266 VAR_016190 p.Gln515Glu LB/B rs180222 - TG P01266 VAR_016852 p.Ser604Asp LB/B rs2069547 - TG P01266 VAR_016853 p.Gly653Asp LB/B rs2069548 - TG P01266 VAR_016855 p.His1043Tyr LB/B rs143983705 - TG P01266 VAR_016856 p.Ile1059Thr LB/B rs1016185504 - TG P01266 VAR_016857 p.Trp1437Arg LB/B rs2069558 - TG P01266 VAR_016858 p.Pro1463His LB/B - - TG P01266 VAR_016859 p.Ala1936Thr LB/B rs2069562 - TG P01266 VAR_016860 p.Asp2091Glu LB/B - - TG P01266 VAR_016861 p.Pro2149Leu LB/B rs2069564 - TG P01266 VAR_016862 p.Gln2170Arg LB/B rs2069565 - TG P01266 VAR_016863 p.Arg2242His LB/B rs2069566 - TG P01266 VAR_049077 p.Pro777Leu LB/B rs3739274 - TG P01266 VAR_049078 p.Gly815Arg LB/B rs16904774 - TG P01266 VAR_049079 p.Arg988Pro LB/B rs16893332 - TG P01266 VAR_049080 p.Leu1063Met LB/B rs11992497 - TG P01266 VAR_049081 p.Ser1222Leu LB/B rs12549018 - TG P01266 VAR_049082 p.Thr1740Lys LB/B rs16904791 - TG P01266 VAR_049083 p.Arg2455His LB/B rs2272707 - TG P01266 VAR_049084 p.Leu2469Pro LB/B rs2069568 - TG P01266 VAR_049085 p.Phe2526Leu LB/B rs12114109 - TG P01266 VAR_049086 p.Asn2616Ser LB/B rs10091530 - TG P01266 VAR_061173 p.Met1974Thr LB/B rs56230101 - TG P01266 VAR_063034 p.Cys183Tyr LP/P - Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] TG P01266 VAR_063035 p.Cys1897Tyr LP/P rs121912649 Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] TG P01266 VAR_063036 p.Ala2234Asp LP/P rs370991693 Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] TG P01266 VAR_063037 p.Arg2336Gln LP/P rs121912650 Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] TG P01266 VAR_063038 p.Gly2375Arg LP/P rs137854434 Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] TGDS O95455 VAR_049122 p.Gly15Ser LB/B rs34991132 - TGDS O95455 VAR_072682 p.Glu90Gly LP/P rs724160004 Catel-Manzke syndrome (CATMANS) [MIM:616145] TGDS O95455 VAR_072683 p.Phe98Leu LP/P rs727502808 Catel-Manzke syndrome (CATMANS) [MIM:616145] TGDS O95455 VAR_072684 p.Ala100Ser LP/P rs140430952 Catel-Manzke syndrome (CATMANS) [MIM:616145] TGDS O95455 VAR_072685 p.Tyr234His LP/P rs544436734 Catel-Manzke syndrome (CATMANS) [MIM:616145] TGDS O95455 VAR_072686 p.Asn298Asp LP/P rs724160005 Catel-Manzke syndrome (CATMANS) [MIM:616145] TGFA P01135 VAR_024271 p.Val109Met LB/B rs11466259 - TGFB1 P01137 VAR_016171 p.Pro10Leu LB/B rs1800470 - TGFB1 P01137 VAR_016172 p.Arg25Pro LB/B rs1800471 - TGFB1 P01137 VAR_016173 p.Thr263Ile LB/B rs1800472 - TGFB1 P01137 VAR_017607 p.Tyr81His LP/P - Camurati-Engelmann disease (CAEND) [MIM:131300] TGFB1 P01137 VAR_017608 p.Arg218Cys LP/P - Camurati-Engelmann disease (CAEND) [MIM:131300] TGFB1 P01137 VAR_017609 p.Arg218His LP/P - Camurati-Engelmann disease (CAEND) [MIM:131300] TGFB1 P01137 VAR_017610 p.His222Asp LP/P - Camurati-Engelmann disease (CAEND) [MIM:131300] TGFB1 P01137 VAR_017611 p.Cys225Arg LP/P - Camurati-Engelmann disease (CAEND) [MIM:131300] TGFB1 P01137 VAR_067303 p.Cys223Gly LP/P - Camurati-Engelmann disease (CAEND) [MIM:131300] TGFB1 P01137 VAR_067304 p.Cys223Arg LP/P - Camurati-Engelmann disease (CAEND) [MIM:131300] TGFB1 P01137 VAR_081584 p.Arg45Cys LP/P - Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) [MIM:618213] TGFB1 P01137 VAR_081585 p.Arg110Cys LP/P - Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) [MIM:618213] TGFB1 P01137 VAR_081586 p.Cys387Arg LP/P - Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) [MIM:618213] TGFB1I1 O43294 VAR_032831 p.Gln129His LB/B rs45475699 - TGFB2 P61812 VAR_012708 p.Arg91His LB/B rs10482721 - TGFB2 P61812 VAR_018923 p.Val207Leu LB/B rs10482810 - TGFB2 P61812 VAR_068932 p.Arg299Trp LP/P rs863223792 Loeys-Dietz syndrome 4 (LDS4) [MIM:614816] TGFB2 P61812 VAR_068933 p.Arg302Cys LP/P rs869312903 Loeys-Dietz syndrome 4 (LDS4) [MIM:614816] TGFB2 P61812 VAR_068934 p.Pro338His LP/P rs387907278 Loeys-Dietz syndrome 4 (LDS4) [MIM:614816] TGFB2 P61812 VAR_072740 p.Arg320Cys LB/B rs1553303352 - TGFB3 P10600 VAR_016315 p.Thr60Met LB/B rs4252315 - TGFB3 P10600 VAR_070924 p.Cys409Tyr LP/P rs398122984 Loeys-Dietz syndrome 5 (LDS5) [MIM:615582] TGFBI Q15582 VAR_005077 p.Arg124His LP/P rs121909211 Corneal dystrophy, Avellino type (CDA) [MIM:607541] TGFBI Q15582 VAR_005078 p.Arg124Leu LP/P rs121909211 Corneal dystrophy, Reis-Bucklers type (CDRB) [MIM:608470] TGFBI Q15582 VAR_005079 p.Pro501Thr LP/P rs121909212 Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471] TGFBI Q15582 VAR_005080 p.Leu527Arg LP/P rs1050842080 Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_005082 p.Arg555Gln LP/P rs121909209 Corneal dystrophy, Thiel-Behnke type (CDTB) [MIM:602082] TGFBI Q15582 VAR_005083 p.Arg555Trp LP/P rs121909208 Corneal dystrophy, Groenouw type 1 (CDGG1) [MIM:121900] TGFBI Q15582 VAR_012444 p.Arg124Ser LP/P rs121909210 Corneal dystrophy, Groenouw type 1 (CDGG1) [MIM:121900] TGFBI Q15582 VAR_012446 p.Leu518Pro LP/P - Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_012447 p.Asn544Ser LB/B rs777288957 - TGFBI Q15582 VAR_012448 p.Ala546Thr LP/P - Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471] TGFBI Q15582 VAR_012449 p.Asn622His US - - TGFBI Q15582 VAR_012450 p.His626Arg LP/P rs1052006472 Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_014335 p.Ile200Phe LB/B rs45455404 - TGFBI Q15582 VAR_018484 p.Leu518Arg LP/P - Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_018485 p.Thr538Arg LP/P - Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_018486 p.Asn622Lys LP/P - Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471] TGFBI Q15582 VAR_018487 p.Gly623Asp LP/P rs121909215 Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_018488 p.His626Pro LP/P - Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_018489 p.Val631Asp US - - TGFBI Q15582 VAR_031531 p.Val113Ile LB/B rs757933370 - TGFBI Q15582 VAR_031532 p.Asp123His LB/B rs541270955 - TGFBI Q15582 VAR_031533 p.Leu269Phe LB/B rs199852470 - TGFBI Q15582 VAR_031534 p.Arg496Gly LB/B rs10057190 - TGFBI Q15582 VAR_031535 p.Val505Asp LP/P - Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_031536 p.Leu509Arg LP/P rs121909216 Corneal dystrophy, epithelial basement membrane (EBMD) [MIM:121820] TGFBI Q15582 VAR_031537 p.Val539Asp LB/B rs1382893670 - TGFBI Q15582 VAR_031538 p.Phe540Ser LP/P rs121909214 Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471] TGFBI Q15582 VAR_031539 p.Ala546Asp LP/P rs267607109 Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_031540 p.Pro551Gln LP/P rs267607110 Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_031541 p.Leu569Arg LP/P - Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_031543 p.His572Arg LP/P - Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_031544 p.Gly594Val US - - TGFBI Q15582 VAR_031546 p.Arg666Ser US rs121909217 Corneal dystrophy, epithelial basement membrane (EBMD) [MIM:121820] TGFBI Q15582 VAR_077904 p.Arg124Cys LP/P rs121909210 Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200] TGFBR1 P36897 VAR_022344 p.Thr200Ile LP/P rs121918712 Loeys-Dietz syndrome 1 (LDS1) [MIM:609192] TGFBR1 P36897 VAR_022345 p.Met318Arg LP/P rs121918710 Loeys-Dietz syndrome 1 (LDS1) [MIM:609192] TGFBR1 P36897 VAR_022346 p.Asp400Gly LP/P rs121918711 Loeys-Dietz syndrome 1 (LDS1) [MIM:609192] TGFBR1 P36897 VAR_022347 p.Arg487Pro LP/P rs113605875 Loeys-Dietz syndrome 1 (LDS1) [MIM:609192] TGFBR1 P36897 VAR_029481 p.Lys232Glu LP/P - Loeys-Dietz syndrome 1 (LDS1) [MIM:609192] TGFBR1 P36897 VAR_029482 p.Ser241Leu LP/P rs111854391 Loeys-Dietz syndrome 1 (LDS1) [MIM:609192] TGFBR1 P36897 VAR_029483 p.Asn267His US - - TGFBR1 P36897 VAR_029484 p.Arg487Gln LP/P rs113605875 Loeys-Dietz syndrome 1 (LDS1) [MIM:609192] TGFBR1 P36897 VAR_029485 p.Arg487Trp LP/P rs111426349 Loeys-Dietz syndrome 1 (LDS1) [MIM:609192] TGFBR1 P36897 VAR_041412 p.Val153Ile LB/B rs56014374 - TGFBR1 P36897 VAR_041413 p.Tyr291Cys LB/B rs35974499 - TGFBR1 P36897 VAR_054160 p.Ile139Val LB/B rs148176750 - TGFBR1 P36897 VAR_065826 p.Cys41Tyr LP/P - Multiple self-healing squamous epithelioma (MSSE) [MIM:132800] TGFBR1 P36897 VAR_065827 p.Asn45Ser LP/P rs387906696 Multiple self-healing squamous epithelioma (MSSE) [MIM:132800] TGFBR1 P36897 VAR_065828 p.Gly52Arg LP/P rs587776865 Multiple self-healing squamous epithelioma (MSSE) [MIM:132800] TGFBR1 P36897 VAR_065829 p.Pro83Leu LP/P rs757374917 Multiple self-healing squamous epithelioma (MSSE) [MIM:132800] TGFBR1 P36897 VAR_066720 p.Asp266Tyr LP/P - Loeys-Dietz syndrome 1 (LDS1) [MIM:609192] TGFBR1 P36897 VAR_066721 p.Asp351Gly LP/P - Loeys-Dietz syndrome 1 (LDS1) [MIM:609192] TGFBR1 P36897 VAR_066722 p.Thr375Arg LP/P rs1827743139 Loeys-Dietz syndrome 1 (LDS1) [MIM:609192] TGFBR2 P37173 VAR_008156 p.Thr315Met LP/P rs34833812 Hereditary non-polyposis colorectal cancer 6 (HNPCC6) [MIM:614331] TGFBR2 P37173 VAR_015816 p.Glu526Gln LP/P rs121918714 Esophageal cancer (ESCR) [MIM:133239] TGFBR2 P37173 VAR_017606 p.Val191Ile LB/B rs56105708 - TGFBR2 P37173 VAR_020510 p.Met36Val LB/B rs17025864 - TGFBR2 P37173 VAR_022351 p.Leu308Pro LP/P rs28934568 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_022352 p.Tyr336Asn LP/P rs104893812 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_022353 p.Ala355Pro LP/P rs104893813 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_022354 p.Gly357Trp LP/P rs104893814 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_022355 p.Val387Met US rs35766612 A breast tumor TGFBR2 P37173 VAR_022356 p.Asn435Ser US - A breast tumor TGFBR2 P37173 VAR_022357 p.Val447Ala US - A breast tumor TGFBR2 P37173 VAR_022358 p.Ser449Phe LP/P rs104893807 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_022359 p.Leu452Met US - A breast tumor TGFBR2 P37173 VAR_022360 p.Arg528Cys LP/P rs104893810 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_022361 p.Arg528His LP/P rs104893815 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_022362 p.Arg537Cys LP/P rs104893809 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_028063 p.Val439Ala LB/B rs1050833 - TGFBR2 P37173 VAR_029760 p.Arg460Cys LP/P rs104893811 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_029761 p.Arg460His LP/P rs104893816 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_036070 p.Ile73Val US - A colorectal cancer sample TGFBR2 P37173 VAR_041414 p.Cys61Arg US - A gastric adenocarcinoma sample TGFBR2 P37173 VAR_041415 p.His328Tyr US - A lung neuroendocrine carcinoma sample TGFBR2 P37173 VAR_041416 p.Met373Ile LB/B rs35719192 - TGFBR2 P37173 VAR_041417 p.Asn490Ser US - A gastric adenocarcinoma sample TGFBR2 P37173 VAR_066724 p.His377Arg LP/P rs1553630274 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_066725 p.Asp446Asn LP/P rs886039551 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_066726 p.Met457Lys LP/P - Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_066727 p.Gly509Val LP/P rs863223853 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_066728 p.Ile510Phe LP/P - Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_066729 p.Ile510Ser LP/P - Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_066730 p.Cys514Arg LP/P rs193922664 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_066731 p.Trp521Arg LP/P rs1575166666 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_076167 p.Arg190His LP/P rs780542125 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_076168 p.Asp247Val LP/P rs761231369 Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_076169 p.Thr325Pro LP/P - Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_076170 p.Gly357Arg LP/P - Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2 P37173 VAR_076171 p.Thr530Ile LP/P - Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR3 Q03167 VAR_014920 p.Ser15Phe LB/B rs1805110 - TGFBR3 Q03167 VAR_020891 p.Ser14Asn LB/B rs17884205 - TGFBR3 Q03167 VAR_020892 p.Trp163Leu LB/B rs17885124 - TGFBR3 Q03167 VAR_020893 p.Ala635Thr LB/B rs17882578 - TGFBR3 Q03167 VAR_020894 p.Gly765Arg LB/B rs17882828 - TGFBR3 Q03167 VAR_057499 p.Phe351Ile LB/B rs11466592 - TGFBR3 Q03167 VAR_066625 p.Pro777Ser LB/B rs2228363 - TGFBRAP1 Q8WUH2 VAR_045822 p.His725Arg LB/B rs2241797 - TGIF1 Q15583 VAR_009961 p.Ser157Cys LP/P rs121909066 Holoprosencephaly 4 (HPE4) [MIM:142946] TGIF1 Q15583 VAR_009962 p.Pro192Arg LP/P rs121909067 Holoprosencephaly 4 (HPE4) [MIM:142946] TGIF1 Q15583 VAR_009963 p.Thr280Ala LP/P rs121909068 Holoprosencephaly 4 (HPE4) [MIM:142946] TGIF1 Q15583 VAR_009964 p.Ser291Phe LP/P rs121909069 Holoprosencephaly 4 (HPE4) [MIM:142946] TGIF1 Q15583 VAR_020151 p.Pro292Leu LB/B rs2229333 - TGIF1 Q15583 VAR_023803 p.Gln236Leu LP/P rs28939693 Holoprosencephaly 4 (HPE4) [MIM:142946] TGIF1 Q15583 VAR_047363 p.Pro289Ser LB/B rs11571512 - TGIF1 Q15583 VAR_061268 p.Pro292Ser LB/B rs4468717 - TGIF2LX Q8IUE1 VAR_017867 p.Val197Ile LB/B rs2290380 - TGM1 P22735 VAR_007476 p.Arg142His LP/P rs121918718 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_007477 p.Arg143Cys LP/P rs531650682 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_007478 p.Arg143His LP/P rs121918719 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_007479 p.Gly218Ser LP/P rs121918732 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_007480 p.Val379Leu LP/P rs121918720 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_007481 p.Arg396Leu LP/P rs121918721 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_015220 p.Ser42Tyr LP/P rs41295338 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_015221 p.Arg323Gln LP/P rs121918717 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_015222 p.Arg389His LP/P rs121918723 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_020918 p.Asp102Val LP/P rs398122901 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_020919 p.Asn289Thr LP/P rs121918730 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_020920 p.Arg307Trp LP/P rs121918731 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_024660 p.Asp802Val LB/B rs2228337 - TGM1 P22735 VAR_029268 p.Asp132Asn LB/B rs2229462 - TGM1 P22735 VAR_052550 p.Val518Met LB/B rs35312232 - TGM1 P22735 VAR_052551 p.Arg607Cys LB/B rs2229464 - TGM1 P22735 VAR_052552 p.Ser755Leu LB/B rs35926651 - TGM1 P22735 VAR_055374 p.Val372Ile LB/B rs41293794 - TGM1 P22735 VAR_058638 p.Cys53Ser LP/P - Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058639 p.Gly94Asp LP/P rs121918729 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058640 p.Arg126Cys LP/P rs397514524 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058641 p.Arg126His LP/P rs200491579 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058642 p.Tyr134Cys LP/P rs147916609 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058643 p.Arg142Cys LP/P rs121918716 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058644 p.Arg142Pro LP/P - Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058645 p.Gly144Glu LP/P rs1465243895 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058646 p.Gly144Arg LP/P rs778635368 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058647 p.Ser160Cys LP/P rs121918728 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058648 p.Leu205Gln LP/P rs878853259 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058649 p.Val209Phe LP/P - Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058650 p.Arg225His LP/P rs549195122 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058651 p.Arg225Pro LP/P rs549195122 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058652 p.Ile243Ser LP/P - Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058653 p.Pro249Leu LP/P - Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058654 p.Arg264Gln LP/P rs781006633 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058655 p.Arg264Trp LP/P rs201868387 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058656 p.Ser272Pro LP/P rs764040146 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058657 p.Tyr276Asn LP/P rs397514523 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058658 p.Gly278Arg LP/P rs121918725 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058659 p.Glu285Lys LP/P rs749721551 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058660 p.Arg286Gln LP/P rs121918727 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058661 p.Phe293Val LP/P - Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058662 p.Ile304Phe LP/P rs753798494 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058663 p.Arg307Gly LP/P rs121918731 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058664 p.Arg315Cys LP/P rs397514525 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058665 p.Arg315His LP/P rs143473912 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058666 p.Arg315Leu LP/P rs143473912 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058667 p.Arg323Trp LP/P rs771820315 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058668 p.Asn330His LP/P - Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058669 p.Ser331Pro LP/P - Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058670 p.Trp342Arg LP/P - Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058671 p.Ser358Arg LP/P rs779287673 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058672 p.Val359Met LP/P rs202037016 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058673 p.Tyr365Asp LP/P - Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058674 p.Leu366Pro LP/P - Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058675 p.Gly382Arg LP/P - Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058676 p.Val383Met LP/P rs121918722 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058677 p.Arg389Pro LP/P rs121918723 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058678 p.Gly392Asp LP/P rs121918726 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058679 p.Arg396His LP/P rs121918721 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058680 p.Arg396Ser LP/P - Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058681 p.Phe401Val LP/P rs991194429 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058682 p.Asp430Val LP/P rs1555306103 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058683 p.Gly473Ser LP/P rs904122716 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058684 p.Asp490Gly LP/P rs121918724 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058685 p.Glu520Gly LP/P rs142404759 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058686 p.Tyr544Cys LP/P rs1044429462 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058687 p.Arg687Cys LP/P rs147516124 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058688 p.Arg687His LP/P - Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_058689 p.Arg764Cys LP/P rs201853046 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM1 P22735 VAR_075227 p.Ser212Phe LP/P rs1555306304 Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300] TGM2 P21980 VAR_036554 p.Gly660Val US - A colorectal cancer sample TGM2 P21980 VAR_037998 p.Met330Arg US rs141603506 - TGM2 P21980 VAR_037999 p.Ile331Asn US - - TGM2 P21980 VAR_052553 p.Arg76His LB/B rs41274720 - TGM2 P21980 VAR_052554 p.Pro536Ser LB/B rs45556333 - TGM2 P21980 VAR_055357 p.Arg214His LB/B rs45530133 - TGM2 P21980 VAR_055358 p.Gln324Arg LB/B rs45567334 - TGM2 P21980 VAR_055359 p.Arg436Trp LB/B rs45629036 - TGM3 Q08188 VAR_040067 p.Thr13Lys LB/B rs214803 - TGM3 Q08188 VAR_040068 p.Ile163Leu LB/B rs6048066 - TGM3 Q08188 VAR_040069 p.Ser249Asn LB/B rs214814 - TGM3 Q08188 VAR_040070 p.Lys562Arg LB/B rs1042617 - TGM3 Q08188 VAR_040071 p.Gly654Arg LB/B rs214830 - TGM3 Q08188 VAR_055360 p.Leu687Met LB/B rs45581032 - TGM4 P49221 VAR_052555 p.Glu100Asp LB/B rs2271087 - TGM4 P49221 VAR_052556 p.Tyr244His LB/B rs9818345 - TGM4 P49221 VAR_052557 p.Ser249Thr LB/B rs937838 - TGM4 P49221 VAR_052558 p.Glu313Lys LB/B rs1995641 - TGM4 P49221 VAR_052559 p.Arg372Cys LB/B rs3749195 - TGM4 P49221 VAR_052560 p.Arg372His LB/B rs13326552 - TGM4 P49221 VAR_052561 p.Ile376Val LB/B rs17077022 - TGM4 P49221 VAR_052562 p.Val409Ile LB/B rs9876921 - TGM4 P49221 VAR_052563 p.Glu437Gln LB/B rs1395388 - TGM5 O43548 VAR_013248 p.Pro67Ser LB/B rs757598618 - TGM5 O43548 VAR_013249 p.Ala352Gly LB/B rs28756768 - TGM5 O43548 VAR_025848 p.Thr109Met LB/B rs113463533 - TGM5 O43548 VAR_025849 p.Gly113Cys LP/P rs112292549 Peeling skin syndrome 2 (PSS2) [MIM:609796] TGM5 O43548 VAR_052564 p.Val504Met LB/B rs7171797 - TGM5 O43548 VAR_052565 p.Gln521Arg LB/B rs35985214 - TGM6 O95932 VAR_013250 p.Met58Val LB/B rs2076405 - TGM6 O95932 VAR_065360 p.Asp327Gly LP/P rs387907098 Spinocerebellar ataxia 35 (SCA35) [MIM:613908] TGM6 O95932 VAR_065361 p.Leu517Trp LP/P rs387907097 Spinocerebellar ataxia 35 (SCA35) [MIM:613908] TGM6 O95932 VAR_072179 p.Arg111Cys LP/P rs372250159 Spinocerebellar ataxia 35 (SCA35) [MIM:613908] TGM6 O95932 VAR_072180 p.Asp510His LP/P rs201964784 Spinocerebellar ataxia 35 (SCA35) [MIM:613908] TGM6 O95932 VAR_080737 p.Thr426Asn LP/P - Spinocerebellar ataxia 35 (SCA35) [MIM:613908] TGOLN2 O43493 VAR_034724 p.Leu10Val LB/B rs1128140 - TGOLN2 O43493 VAR_034725 p.Ala86Gly LB/B rs1044962 - TGOLN2 O43493 VAR_034726 p.Gln91Leu LB/B rs1044963 - TGOLN2 O43493 VAR_034727 p.Lys103Gln LB/B rs1044964 - TGOLN2 O43493 VAR_034728 p.Gln105Pro LB/B rs1573051515 - TGOLN2 O43493 VAR_034729 p.Arg259Trp LB/B rs4247303 - TGOLN2 O43493 VAR_034730 p.Glu322Gly LB/B rs1044969 - TGS1 Q96RS0 VAR_024734 p.Ile16Thr LB/B rs1818 - TGS1 Q96RS0 VAR_024735 p.Ile160Val LB/B rs3213971 - TGS1 Q96RS0 VAR_024736 p.Ile511Thr LB/B rs10100659 - TGS1 Q96RS0 VAR_024737 p.Val576Ile LB/B rs16922259 - TGS1 Q96RS0 VAR_024738 p.Phe754Cys LB/B rs7823773 - TGS1 Q96RS0 VAR_056241 p.Pro299Ser LB/B rs11986329 - TGS1 Q96RS0 VAR_056242 p.Thr595Ala LB/B rs10109493 - TH P07101 VAR_014025 p.Val112Met LB/B rs6356 - TH P07101 VAR_014026 p.Arg233His LP/P rs80338892 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_014027 p.Leu236Pro LP/P rs121917763 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_014028 p.Thr276Pro LP/P rs28934581 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_014029 p.Thr314Met LP/P rs121917764 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_014030 p.Arg337His LP/P rs28934580 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_014031 p.Gln412Lys LP/P rs121917762 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_014032 p.Thr494Met LP/P rs45471299 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_014033 p.Val499Met LB/B rs1800033 - TH P07101 VAR_071715 p.Pro251Leu LP/P - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_071716 p.Cys279Phe LP/P rs1273610334 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_071717 p.Arg296Gln LP/P rs199961079 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_071718 p.Gly315Ser LP/P rs1288483479 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_071719 p.Ile382Thr LP/P rs1554922725 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_071720 p.Gly428Arg LP/P rs1264884607 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072862 p.Ser19Cys US rs766704202 - TH P07101 VAR_072863 p.Cys207Tyr LP/P - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072864 p.Asp227Gly LP/P - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072865 p.Ala241Thr LP/P rs1260455415 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072866 p.His246Tyr LP/P - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072867 p.Gly247Ser LP/P rs762304556 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072868 p.Glu259Gly LP/P - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072869 p.Gly294Arg LP/P rs755536257 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072870 p.Pro301Ala LP/P - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072871 p.Phe309Ser LP/P - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072872 p.Arg319Pro LP/P - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072873 p.Arg328Trp LP/P rs1428589694 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072874 p.Cys359Phe LP/P rs121917765 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072875 p.Phe375Leu LP/P rs763198914 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072876 p.Ala376Val LP/P - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072877 p.Ala385Val LP/P rs763039181 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072878 p.Leu387Met LP/P - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072879 p.Ile394Thr LP/P - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072880 p.Thr399Met LP/P rs1057520384 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072881 p.Gly408Arg LP/P rs745551241 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072882 p.Gly414Arg LP/P rs370962049 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072883 p.Arg441Pro LP/P rs367874223 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072884 p.Ser467Gly LP/P - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072885 p.Pro492Leu LP/P rs767635052 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072886 p.Asp498Gly LP/P rs771351747 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_072887 p.Leu510Gln LP/P - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] THADA Q6YHU6 VAR_054070 p.Glu63Gly LB/B rs10210191 - THADA Q6YHU6 VAR_054071 p.Val699Ile LB/B rs17031056 - THADA Q6YHU6 VAR_054072 p.Thr1187Ala LB/B rs7578597 - THADA Q6YHU6 VAR_054073 p.Thr1385Ser LB/B rs33979934 - THADA Q6YHU6 VAR_054074 p.Pro1451Ser LB/B rs17334247 - THADA Q6YHU6 VAR_054075 p.Cys1605Tyr LB/B rs35720761 - THADA Q6YHU6 VAR_054076 p.Cys1668Arg LB/B rs17030648 - THAP1 Q9NVV9 VAR_054788 p.Phe81Leu LP/P rs118204013 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_065880 p.Asn12Lys LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_065881 p.Ser21Thr LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_065882 p.Arg29Pro LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_065883 p.Ala39Thr LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_065884 p.Thr59Ile LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_065885 p.Lys89Arg LP/P rs267607111 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_065886 p.Asn136Lys LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_065887 p.Cys170Arg LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066677 p.Ser6Phe LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066678 p.Ser6Pro LP/P rs1586459410 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066679 p.Tyr8Cys LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066680 p.Gly9Cys LP/P rs267607112 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066681 p.Arg13His LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066682 p.Lys16Glu LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066683 p.Asp17Gly LP/P rs766483829 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066684 p.His23Pro LP/P rs387907177 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066685 p.Lys24Glu LP/P rs387907176 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066686 p.Pro26Leu LP/P rs1802674870 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066687 p.Pro26Arg LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066688 p.Arg29Gln LP/P rs767952378 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066689 p.Pro30Arg LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066690 p.Leu32His LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066691 p.Cys54Phe LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066692 p.His57Asn LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066694 p.Leu72Arg LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066695 p.Asn75Ile LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066696 p.Ile80Val LP/P rs372080941 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066697 p.Cys83Arg LP/P rs768017019 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066698 p.Phe132Ser LP/P rs950435041 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066699 p.Asn136Ser LP/P rs769988455 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066700 p.Tyr137Cys LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066701 p.Met143Val LP/P rs374512193 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066702 p.Ile149Thr LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066703 p.His150Pro LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066704 p.Ala166Thr LP/P rs138918468 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066705 p.Arg169Gln LP/P rs767519301 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066706 p.Glu174Gly LP/P rs759392096 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066707 p.Leu180Ser LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066708 p.Gln187Lys LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_066709 p.Asp192Asn LP/P rs377725442 Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_067356 p.Ala7Asp LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_067357 p.Ser21Cys LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_072272 p.Glu56Gly LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP1 Q9NVV9 VAR_079366 p.Leu177Pro LP/P - Dystonia 6, torsion (DYT6) [MIM:602629] THAP2 Q9H0W7 VAR_034551 p.Thr170Met LB/B rs17110155 - THAP4 Q8WY91 VAR_027161 p.Ser121Gly LB/B rs7424328 - THAP7 Q9BT49 VAR_060277 p.Ala115Pro LB/B rs426938 - THAP8 Q8NA92 VAR_020264 p.Lys112Arg LB/B rs3810450 - THAP8 Q8NA92 VAR_034552 p.Arg70His LB/B rs3810449 - THAP8 Q8NA92 VAR_034553 p.Pro157Ser LB/B rs34250145 - THAP8 Q8NA92 VAR_052288 p.Arg185Gln LB/B rs10421966 - THAP8 Q8NA92 VAR_052289 p.Arg189Trp LB/B rs10420353 - THAP9 Q9H5L6 VAR_038486 p.Met284Ile LB/B rs1031639 - THAP9 Q9H5L6 VAR_038487 p.Leu299Phe LB/B rs897945 - THAP9 Q9H5L6 VAR_038488 p.Asn812Asp LB/B rs6535411 - THAP9 Q9H5L6 VAR_061842 p.Val833Ile LB/B rs35532215 - THBD P07204 VAR_011368 p.Ala43Thr LP/P rs1800576 Hemolytic uremic syndrome, atypical, 6 (AHUS6) [MIM:612926] THBD P07204 VAR_011369 p.Gly79Ala LB/B rs1800577 - THBD P07204 VAR_011370 p.Ala473Val LB/B rs1042579 - THBD P07204 VAR_011371 p.Asp486Tyr LP/P rs41348347 Hemolytic uremic syndrome, atypical, 6 (AHUS6) [MIM:612926] THBD P07204 VAR_011371 p.Asp486Tyr LP/P rs41348347 Thrombophilia due to thrombomodulin defect (THPH12) [MIM:614486] THBD P07204 VAR_011372 p.Pro495Ser LP/P rs1800578 Hemolytic uremic syndrome, atypical, 6 (AHUS6) [MIM:612926] THBD P07204 VAR_011373 p.Pro501Leu LP/P rs1800579 Hemolytic uremic syndrome, atypical, 6 (AHUS6) [MIM:612926] THBD P07204 VAR_049011 p.Ala162Pro LB/B rs36110902 - THBD P07204 VAR_063223 p.Asp53Gly LP/P rs121918667 Hemolytic uremic syndrome, atypical, 6 (AHUS6) [MIM:612926] THBD P07204 VAR_063224 p.Val81Leu LP/P rs772288987 Hemolytic uremic syndrome, atypical, 6 (AHUS6) [MIM:612926] THBD P07204 VAR_063673 p.Asp34Glu LP/P - Hemolytic uremic syndrome, atypical, 6 (AHUS6) [MIM:612926] THBD P07204 VAR_063674 p.Ala236Gly LP/P rs758686992 Hemolytic uremic syndrome, atypical, 6 (AHUS6) [MIM:612926] THBS1 P07996 VAR_028938 p.Thr523Ala LB/B rs2292305 - THBS1 P07996 VAR_028939 p.Asn700Ser LB/B rs2228262 - THBS1 P07996 VAR_052657 p.Ser24Ala LB/B rs41515347 - THBS2 P35442 VAR_045842 p.Thr133Ser LB/B rs36088849 - THBS2 P35442 VAR_045843 p.Leu375Phe LB/B rs35404985 - THBS3 P49746 VAR_035808 p.Arg955Gly US - A breast cancer sample THBS3 P49746 VAR_052658 p.Ser279Gly LB/B rs35154152 - THBS4 P35443 VAR_019951 p.Leu55Gln LB/B rs17881847 - THBS4 P35443 VAR_019952 p.Ala387Pro LB/B rs1866389 - THBS4 P35443 VAR_019953 p.Ala420Val LB/B rs17882372 - THBS4 P35443 VAR_019954 p.Val646Ile LB/B rs2229396 - THBS4 P35443 VAR_052659 p.Val737Ile LB/B rs2229398 - THEM4 Q5T1C6 VAR_037865 p.Leu17Arg LB/B rs3748805 - THEM4 Q5T1C6 VAR_037866 p.Ser38Cys LB/B rs144257719 - THEM5 Q8N1Q8 VAR_031764 p.Tyr55Ser LB/B rs16833597 - THEM5 Q8N1Q8 VAR_031765 p.Asp197Gly LB/B rs6587625 - THEM5 Q8N1Q8 VAR_031766 p.Leu206Val LB/B rs6587624 - THEM6 Q8WUY1 VAR_032034 p.Glu93Gln LB/B rs17851711 - THEMIS Q8N1K5 VAR_027846 p.Val284Gly LB/B rs11968051 - THEMIS Q8N1K5 VAR_027847 p.Ile630Val LB/B rs675531 - THEMIS2 Q5TEJ8 VAR_051060 p.Val431Leu LB/B rs35995543 - THEMIS2 Q5TEJ8 VAR_051061 p.Lys511Glu LB/B rs3766400 - THG1L Q9NWX6 VAR_031871 p.Leu232Pro LB/B rs2270812 - THG1L Q9NWX6 VAR_083901 p.Val55Ala LP/P rs201920319 Spinocerebellar ataxia, autosomal recessive, 28 (SCAR28) [MIM:618800] THG1L Q9NWX6 VAR_083902 p.Leu294Pro US rs1581444231 - THNSL1 Q8IYQ7 VAR_052545 p.Leu154Pro LB/B rs35827877 - THNSL1 Q8IYQ7 VAR_052546 p.Ala248Glu LB/B rs34929144 - THNSL1 Q8IYQ7 VAR_058869 p.Gln399Arg LB/B rs41279894 - THNSL1 Q8IYQ7 VAR_061893 p.Pro239Arg LB/B rs41279890 - THNSL2 Q86YJ6 VAR_054635 p.Gly41Glu LB/B rs4129190 - THNSL2 Q86YJ6 VAR_054636 p.Val108Ile LB/B rs35541720 - THNSL2 Q86YJ6 VAR_054637 p.Thr204Asn LB/B rs34136143 - THNSL2 Q86YJ6 VAR_054638 p.Arg324Gly LB/B rs17855905 - THOC1 Q96FV9 VAR_088179 p.Leu183Val LP/P - Deafness, autosomal dominant, 86 (DFNA86) [MIM:620280] THOC2 Q8NI27 VAR_075718 p.Leu313Phe LP/P rs797045019 Intellectual developmental disorder, X-linked 12 (XLID12) [MIM:300957] THOC2 Q8NI27 VAR_075719 p.Leu438Pro LP/P rs797045018 Intellectual developmental disorder, X-linked 12 (XLID12) [MIM:300957] THOC2 Q8NI27 VAR_075720 p.Ile800Thr LP/P rs797045021 Intellectual developmental disorder, X-linked 12 (XLID12) [MIM:300957] THOC2 Q8NI27 VAR_075721 p.Ser1012Pro LP/P rs797045020 Intellectual developmental disorder, X-linked 12 (XLID12) [MIM:300957] THOC3 Q96J01 VAR_081223 p.Cys326Phe LB/B - - THOC5 Q13769 VAR_021410 p.Val579Ile LB/B rs1049534 - THOC5 Q13769 VAR_035692 p.Thr380Lys US rs1264823745 A breast cancer sample THOC5 Q13769 VAR_035693 p.Gly499Ser US rs1280359906 A breast cancer sample THOC5 Q13769 VAR_037134 p.Thr475Ser LB/B rs8141153 - THOC5 Q13769 VAR_037135 p.Val525Ile LB/B rs737976 - THOC6 Q86W42 VAR_069779 p.Gly46Arg LP/P rs587777030 Beaulieu-Boycott-Innes syndrome (BBIS) [MIM:613680] THPO P40225 VAR_011795 p.Leu14Pro LB/B rs1042346 - THPO P40225 VAR_011796 p.Gly116Glu LB/B rs1126665 - THRA P10827 VAR_074559 p.Ala263Val LP/P rs1555545033 Hypothyroidism, congenital, non-goitrous, 6 (CHNG6) [MIM:614450] THRA P10827 VAR_074560 p.Asn359Tyr LP/P - Hypothyroidism, congenital, non-goitrous, 6 (CHNG6) [MIM:614450] THRAP3 Q9Y2W1 VAR_024552 p.Ala201Val LB/B rs6425977 - THRB P10828 VAR_004632 p.Ala234Thr LP/P rs121918694 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004633 p.Arg243Trp LP/P rs121918707 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004634 p.Arg316His LP/P rs121918695 Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650] THRB P10828 VAR_004635 p.Ala317Thr LP/P rs121918690 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004636 p.Arg320Cys LP/P rs121918696 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004637 p.Arg320His LP/P rs121918693 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004638 p.Gly332Arg LP/P rs28999969 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004640 p.Arg338Trp LP/P rs121918697 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004641 p.Gln340His LP/P rs121918688 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004642 p.Lys342Ile LP/P - Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004643 p.Gly345Val LP/P rs28999970 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004644 p.Gly345Ser LP/P rs121918686 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004645 p.Gly345Arg LP/P rs121918686 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004646 p.Gly347Glu LP/P rs28999971 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004647 p.Val348Glu LP/P - Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004648 p.Thr426Ile LP/P - Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004649 p.Arg438His LP/P rs121918698 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004650 p.Met442Val LP/P rs121918691 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004651 p.Lys443Glu LP/P rs121918692 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004652 p.Cys446Arg LP/P rs121918703 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004653 p.Pro453His LP/P rs121918687 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004654 p.Pro453Ser LP/P rs28933408 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_004655 p.Pro453Thr LP/P rs28933408 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_011784 p.Thr337Ile LB/B rs1054624 - THRB P10828 VAR_050577 p.Asp216Gly LB/B rs9865746 - THRB P10828 VAR_058508 p.Arg429Gln LP/P rs1553609210 Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650] THRB P10828 VAR_059041 p.Ala268Gly LP/P - Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_059042 p.Asn331Asp LP/P - Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_059043 p.Ala335Pro LP/P - Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_059044 p.Leu341Pro LP/P - Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_059045 p.Leu346Phe LP/P - Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_059046 p.Ile431Met LP/P rs1553609195 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_059047 p.Pro447Thr LP/P - Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_059048 p.Pro453Leu LP/P - Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB P10828 VAR_059049 p.Phe459Cys LP/P rs121918702 Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THSD1 Q9NS62 VAR_027474 p.Val125Gly LB/B rs13313279 - THSD1 Q9NS62 VAR_027475 p.Arg224Gly LB/B rs9536062 - THSD1 Q9NS62 VAR_027476 p.Lys768Arg LB/B rs9536041 - THSD1 Q9NS62 VAR_061920 p.Asp491His LB/B rs56013270 - THSD1 Q9NS62 VAR_083714 p.Leu5Phe LP/P rs1380388780 Aneurysm, intracranial berry, 12 (ANIB12) [MIM:618734] THSD1 Q9NS62 VAR_083716 p.Arg460Trp US rs776400380 Aneurysm, intracranial berry, 12 (ANIB12) [MIM:618734] THSD1 Q9NS62 VAR_083717 p.Glu466Gly US rs201805081 Aneurysm, intracranial berry, 12 (ANIB12) [MIM:618734] THSD1 Q9NS62 VAR_083718 p.Gly600Glu US rs141140186 Aneurysm, intracranial berry, 12 (ANIB12) [MIM:618734] THSD1 Q9NS62 VAR_083719 p.Pro639Leu LP/P rs1024014523 Aneurysm, intracranial berry, 12 (ANIB12) [MIM:618734] THSD1 Q9NS62 VAR_083720 p.Thr653Ile US rs371717283 Aneurysm, intracranial berry, 12 (ANIB12) [MIM:618734] THSD1 Q9NS62 VAR_083721 p.Ser775Pro US rs780150341 Aneurysm, intracranial berry, 12 (ANIB12) [MIM:618734] THSD1 Q9NS62 VAR_088151 p.Cys206Tyr US - Lymphatic malformation 13 (LMPHM13) [MIM:620244] THSD4 Q6ZMP0 VAR_087397 p.Tyr321Asn US - Aortic aneurysm, familial thoracic 12 (AAT12) [MIM:619825] THSD4 Q6ZMP0 VAR_087398 p.Gly753Asp US - Aortic aneurysm, familial thoracic 12 (AAT12) [MIM:619825] THSD4 Q6ZMP0 VAR_087399 p.Arg781Trp US - Aortic aneurysm, familial thoracic 12 (AAT12) [MIM:619825] THSD7A Q9UPZ6 VAR_057366 p.Phe238Leu LB/B rs2074599 - THSD7A Q9UPZ6 VAR_057367 p.Asp771Glu LB/B rs2285744 - THSD7A Q9UPZ6 VAR_068676 p.Asn583His LB/B rs47 - THSD7A Q9UPZ6 VAR_068677 p.Asp906Glu LB/B rs1432 - THSD7A Q9UPZ6 VAR_068678 p.Asp1652Glu LB/B rs56264449 - THTPA Q9BU02 VAR_062152 p.His176Arg LB/B rs34015250 - THUMPD1 Q9NXG2 VAR_037645 p.Glu311Asp LB/B rs11074471 - THUMPD1 Q9NXG2 VAR_087582 p.Gly45Ser US - Neurodevelopmental disorder with speech delay and variable ocular anomalies (NEDSOA) [MIM:619989] THUMPD1 Q9NXG2 VAR_087585 p.Pro164Ser LP/P - Neurodevelopmental disorder with speech delay and variable ocular anomalies (NEDSOA) [MIM:619989] THUMPD3 Q9BV44 VAR_028976 p.Arg459Gln LB/B rs1129174 - TIA1 P31483 VAR_069897 p.Glu384Lys LP/P rs747068278 Welander distal myopathy (WDM) [MIM:604454] TIA1 P31483 VAR_085357 p.Val294Met US rs144296151 Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia (ALS26) [MIM:619133] TIA1 P31483 VAR_085358 p.Met334Ile US rs747006488 Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia (ALS26) [MIM:619133] TIA1 P31483 VAR_085359 p.Gly355Arg US rs372889101 Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia (ALS26) [MIM:619133] TIA1 P31483 VAR_085360 p.Val360Met US rs201905164 Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia (ALS26) [MIM:619133] TIA1 P31483 VAR_085361 p.Pro362Leu LP/P rs757332023 Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia (ALS26) [MIM:619133] TIA1 P31483 VAR_085362 p.Ala381Thr US rs768554955 Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia (ALS26) [MIM:619133] TIAM1 Q13009 VAR_035977 p.Arg678Cys US rs1192824496 A colorectal cancer sample TIAM1 Q13009 VAR_035978 p.Ala1339Val US rs1319513413 Neurodevelopmental disorder with language delay and seizures (NEDLDS) [MIM:619908] TIAM1 Q13009 VAR_051991 p.Gly247Arg LB/B rs2070418 - TIAM1 Q13009 VAR_051992 p.Gly247Val LB/B rs2070417 - TIAM1 Q13009 VAR_051993 p.Gln844His LB/B rs16987932 - TIAM1 Q13009 VAR_067424 p.Arg1007His LB/B rs77092908 - TIAM1 Q13009 VAR_071102 p.Asp1023Val LB/B rs75483199 - TIAM1 Q13009 VAR_087427 p.Arg23Cys US - Neurodevelopmental disorder with language delay and seizures (NEDLDS) [MIM:619908] TIAM1 Q13009 VAR_087428 p.Gly328Val US - Neurodevelopmental disorder with language delay and seizures (NEDLDS) [MIM:619908] TIAM1 Q13009 VAR_087429 p.Gly382Arg US - Neurodevelopmental disorder with language delay and seizures (NEDLDS) [MIM:619908] TIAM1 Q13009 VAR_087430 p.Leu862Phe US - Neurodevelopmental disorder with language delay and seizures (NEDLDS) [MIM:619908] TIAM1 Q13009 VAR_087431 p.Ala1547Glu US - Neurodevelopmental disorder with language delay and seizures (NEDLDS) [MIM:619908] TIAM2 Q8IVF5 VAR_038534 p.Arg1101Cys LB/B rs11751128 - TIAM2 Q8IVF5 VAR_038535 p.Asp1572Glu LB/B rs1571767 - TIAM2 Q8IVF5 VAR_051994 p.Arg332His LB/B rs931312 - TIAM2 Q8IVF5 VAR_051995 p.Arg913His LB/B rs7770537 - TIAM2 Q8IVF5 VAR_051996 p.Ser1089Pro LB/B rs4259257 - TICAM1 Q8IUC6 VAR_038789 p.Met46Ile US - A breast cancer sample TICAM1 Q8IUC6 VAR_051416 p.Arg75Cys LB/B rs11466719 - TICAM1 Q8IUC6 VAR_051417 p.Leu275Val LB/B rs11466721 - TICAM1 Q8IUC6 VAR_051418 p.Ala666Thr LB/B rs11466724 - TICAM1 Q8IUC6 VAR_069082 p.Ser186Leu LP/P rs146550489 Encephalopathy, acute, infection-induced, 6, herpes-specific (IIAE6) [MIM:614850] TICAM1 Q8IUC6 VAR_084053 p.Thr4Ile LB/B rs114566317 - TICAM1 Q8IUC6 VAR_084054 p.Ser60Cys LB/B rs201782115 - TICAM1 Q8IUC6 VAR_084055 p.Arg71Gln LB/B rs372818181 - TICAM1 Q8IUC6 VAR_084056 p.Val80Met LB/B rs199816697 - TICAM1 Q8IUC6 VAR_084057 p.Ala111Thr LB/B rs201291933 - TICAM1 Q8IUC6 VAR_084059 p.Thr157Met LB/B rs770166865 - TICAM1 Q8IUC6 VAR_084060 p.Val302Leu US - - TICAM1 Q8IUC6 VAR_084061 p.Thr377Ile LB/B rs147816959 - TICAM1 Q8IUC6 VAR_084062 p.Leu386Pro US - - TICAM1 Q8IUC6 VAR_084063 p.Gln392Lys US - - TICAM1 Q8IUC6 VAR_084064 p.Ser465Asn US - - TICAM1 Q8IUC6 VAR_084065 p.Asp557Asn LB/B rs143066432 - TICAM1 Q8IUC6 VAR_084066 p.Met595Leu LB/B rs561021962 - TICAM1 Q8IUC6 VAR_084067 p.Gly598Trp LB/B rs150224968 - TICAM1 Q8IUC6 VAR_084068 p.Gln702Arg US - - TICRR Q7Z2Z1 VAR_034631 p.Arg628Cys LB/B rs3743372 - TICRR Q7Z2Z1 VAR_050886 p.Arg287Cys LB/B rs10775247 - TICRR Q7Z2Z1 VAR_050887 p.Arg402Trp LB/B rs11629584 - TICRR Q7Z2Z1 VAR_050888 p.Val747Ala LB/B rs12905387 - TICRR Q7Z2Z1 VAR_050889 p.Ser923Cys LB/B rs16943377 - TICRR Q7Z2Z1 VAR_050890 p.Arg1523Cys LB/B rs894157 - TICRR Q7Z2Z1 VAR_050891 p.Ser1718Thr LB/B rs1866928 - TICRR Q7Z2Z1 VAR_050892 p.Arg1885Cys LB/B rs3743372 - TIE1 P35590 VAR_041852 p.Val448Met LB/B rs56302794 - TIE1 P35590 VAR_041853 p.Ala1104Val LB/B rs35573981 - TIE1 P35590 VAR_041854 p.Arg1109His US rs34993202 Lymphatic malformation 11 (LMPHM11) [MIM:619401] TIE1 P35590 VAR_085888 p.Arg481Cys US rs139244400 Lymphatic malformation 11 (LMPHM11) [MIM:619401] TIE1 P35590 VAR_085889 p.Glu1061Lys US rs760492428 Lymphatic malformation 11 (LMPHM11) [MIM:619401] TIFA Q96CG3 VAR_051422 p.Thr19Met LB/B rs6834237 - TIGD2 Q4W5G0 VAR_053036 p.His475Arg LB/B rs2280099 - TIGD4 Q8IY51 VAR_030042 p.Ile439Val LB/B rs4696354 - TIGD4 Q8IY51 VAR_057509 p.Ala432Thr LB/B rs34432931 - TIGD4 Q8IY51 VAR_057510 p.Gln489Arg LB/B rs35581576 - TIGD5 Q53EQ6 VAR_030043 p.Met568Ile LB/B rs10282929 - TIGD6 Q17RP2 VAR_030044 p.Arg59Trp LB/B rs9324636 - TIGD6 Q17RP2 VAR_030045 p.Gln327Arg LB/B rs10875553 - TIGIT Q495A1 VAR_056079 p.Ile33Val LB/B rs13098836 - TIMD4 Q96H15 VAR_049946 p.Val240Ala LB/B rs6873053 - TIMD4 Q96H15 VAR_049947 p.Val365Met LB/B rs7731575 - TIMELESS Q9UNS1 VAR_021483 p.Ile455Leu LB/B rs774027 - TIMELESS Q9UNS1 VAR_021484 p.Arg831Gln LB/B rs774047 - TIMELESS Q9UNS1 VAR_021485 p.Pro1018Leu LB/B rs2291739 - TIMELESS Q9UNS1 VAR_036435 p.Ala429Asp US - A breast cancer sample TIMELESS Q9UNS1 VAR_036436 p.Gln1008Glu US rs151188513 A breast cancer sample TIMELESS Q9UNS1 VAR_047879 p.Ala129Ser LB/B rs72478986 - TIMELESS Q9UNS1 VAR_047880 p.Asn471Ser LB/B rs72478993 - TIMELESS Q9UNS1 VAR_047881 p.Met870Val LB/B rs61733875 - TIMELESS Q9UNS1 VAR_047882 p.Arg922His LB/B rs72478999 - TIMELESS Q9UNS1 VAR_047883 p.Arg924Trp LB/B rs72479000 - TIMELESS Q9UNS1 VAR_047884 p.Ile1017Thr LB/B rs61376834 - TIMM10B Q9Y5J6 VAR_025665 p.Gly90Ser LB/B rs17850713 - TIMM10B Q9Y5J6 VAR_061843 p.Ala66Ser LB/B rs60702727 - TIMM17A Q99595 VAR_052305 p.Val113Ile LB/B rs4648 - TIMM21 Q9BVV7 VAR_052306 p.Gly79Ser LB/B rs3737512 - TIMM22 Q9Y584 VAR_084015 p.Val33Leu LP/P - Combined oxidative phosphorylation deficiency 43 (COXPD43) [MIM:618851] TIMM50 Q3ZCQ8 VAR_078568 p.Arg114Trp US rs1300848445 3-methylglutaconic aciduria 9 (MGCA9) [MIM:617698] TIMM50 Q3ZCQ8 VAR_078569 p.Thr149Met US rs1244226820 3-methylglutaconic aciduria 9 (MGCA9) [MIM:617698] TIMM8A O60220 VAR_010237 p.Cys66Trp LP/P rs80356560 Mohr-Tranebjaerg syndrome (MTS) [MIM:304700] TIMMDC1 Q9NPL8 VAR_027885 p.Asn76Asp LB/B rs11539377 - TIMMDC1 Q9NPL8 VAR_061572 p.Val217Ile LB/B rs57168946 - TIMP3 P35625 VAR_007508 p.Ser179Cys LP/P rs137853300 Sorsby fundus dystrophy (SFD) [MIM:136900] TIMP3 P35625 VAR_007509 p.Tyr191Cys LP/P rs137853299 Sorsby fundus dystrophy (SFD) [MIM:136900] TIMP3 P35625 VAR_007510 p.Ser204Cys LP/P rs137853298 Sorsby fundus dystrophy (SFD) [MIM:136900] TIMP3 P35625 VAR_008290 p.Gly189Cys LP/P rs137853301 Sorsby fundus dystrophy (SFD) [MIM:136900] TIMP3 P35625 VAR_010901 p.Gly190Cys LP/P - Sorsby fundus dystrophy (SFD) [MIM:136900] TINAG Q9UJW2 VAR_047091 p.Thr3Ala LB/B rs16885197 - TINAG Q9UJW2 VAR_047092 p.Gln22Arg LB/B rs2297980 - TINAG Q9UJW2 VAR_047093 p.Ser158Pro LB/B rs1058768 - TINAG Q9UJW2 VAR_047094 p.Val413Ile LB/B rs34011963 - TINAG Q9UJW2 VAR_047095 p.Ile433Leu LB/B rs3736352 - TINAGL1 Q9GZM7 VAR_051514 p.Ala69Ser LB/B rs17497479 - TINF2 Q9BSI4 VAR_043914 p.Lys280Glu LP/P rs121918543 Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) [MIM:613990] TINF2 Q9BSI4 VAR_043915 p.Arg282His LP/P rs121918544 Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) [MIM:613990] TINF2 Q9BSI4 VAR_043915 p.Arg282His LP/P rs121918544 Dyskeratosis congenita, autosomal dominant, 5 (DKCA5) [MIM:268130] TINF2 Q9BSI4 VAR_043916 p.Arg282Ser LP/P rs121918545 Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) [MIM:613990] TINF2 Q9BSI4 VAR_051423 p.Ala43Thr LB/B rs35653076 - TINF2 Q9BSI4 VAR_051424 p.Gly237Asp LB/B rs17102313 - TINF2 Q9BSI4 VAR_051425 p.Pro241Ser LB/B rs17102311 - TIPARP Q7Z3E1 VAR_027155 p.Arg406Ser LB/B rs17854621 - TIPIN Q9BVW5 VAR_035194 p.Arg53Pro LB/B rs9806123 - TIPIN Q9BVW5 VAR_035195 p.Ala111Gly LB/B rs2063690 - TIPIN Q9BVW5 VAR_035196 p.Ala267Ser LB/B rs3759786 - TIPIN Q9BVW5 VAR_053952 p.Leu260Pro LB/B rs3759787 - TIPIN Q9BVW5 VAR_054483 p.Asn270Ser LB/B rs780014564 - TIPIN Q9BVW5 VAR_062207 p.Asn270Asp LB/B rs34848112 - TIRAP P58753 VAR_019143 p.Ala9Pro LB/B rs8177369 - TIRAP P58753 VAR_019144 p.Arg13Trp LB/B rs8177399 - TIRAP P58753 VAR_019145 p.Asp96Asn LB/B rs8177400 - TIRAP P58753 VAR_019146 p.Ser180Leu LB/B rs8177374 - TIRAP P58753 VAR_036691 p.Ser55Asn LB/B rs3802813 - TIRAP P58753 VAR_061713 p.Val197Ile LB/B rs7932976 - TJP1 Q07157 VAR_025153 p.Asn471Ser LB/B rs2229517 - TJP1 Q07157 VAR_025154 p.Ile790Val LB/B rs2229515 - TJP1 Q07157 VAR_025155 p.Pro930Leu LB/B rs45529137 - TJP1 Q07157 VAR_025156 p.His1110Arg LB/B rs45567033 - TJP1 Q07157 VAR_025157 p.Asp1347Ala LB/B rs2291166 - TJP1 Q07157 VAR_025158 p.Asn1605Ser LB/B rs45578638 - TJP2 Q9UDY2 VAR_016004 p.Val48Ala LP/P rs121918299 Hypercholanemia, familial, 1 (FHCA1) [MIM:607748] TJP2 Q9UDY2 VAR_030798 p.Asp482Glu LB/B rs2309428 - TJP2 Q9UDY2 VAR_046675 p.Met668Ile LB/B rs34774441 - TJP2 Q9UDY2 VAR_046676 p.Ser711Pro LB/B rs35797487 - TJP2 Q9UDY2 VAR_046677 p.Lys822Asn LB/B rs1049624 - TJP2 Q9UDY2 VAR_046678 p.Asn829Asp LB/B rs1049625 - TJP3 O95049 VAR_056114 p.Met898Thr LB/B rs1046268 - TK2 O00142 VAR_019419 p.Ile53Met LP/P rs137854432 Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560] TK2 O00142 VAR_019420 p.Thr108Met LP/P rs137854431 Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560] TK2 O00142 VAR_019421 p.His121Asn LP/P rs137854429 Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560] TK2 O00142 VAR_019422 p.Ile212Asn LP/P rs137854430 Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560] TK2 O00142 VAR_023790 p.Thr64Met LP/P rs281865487 Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560] TK2 O00142 VAR_023791 p.Arg183Trp LP/P rs137886900 Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560] TK2 O00142 VAR_023791 p.Arg183Trp LP/P rs137886900 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 (PEOB3) [MIM:617069] TK2 O00142 VAR_023792 p.Arg192Lys LP/P rs281865496 Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560] TK2 O00142 VAR_072789 p.Met117Val LP/P - Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560] TK2 O00142 VAR_072790 p.Ala139Val LP/P rs281865494 Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560] TK2 O00142 VAR_076984 p.Thr188Ala LP/P rs281865495 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 (PEOB3) [MIM:617069] TKFC Q3LXA3 VAR_028108 p.Ala185Thr LB/B rs2260655 - TKFC Q3LXA3 VAR_054780 p.Ala334Gly LB/B rs35723406 - TKFC Q3LXA3 VAR_083849 p.Gly445Ser LP/P rs1590578831 Triokinase and FMN cyclase deficiency syndrome (TKFCD) [MIM:618805] TKFC Q3LXA3 VAR_083850 p.Arg543Ile LP/P rs547013163 Triokinase and FMN cyclase deficiency syndrome (TKFCD) [MIM:618805] TKT P29401 VAR_052634 p.Ile181Val LB/B rs17052920 - TKT P29401 VAR_077030 p.Arg318Cys LP/P rs782092363 Short stature, developmental delay, and congenital heart defects (SDDHD) [MIM:617044] TKTL1 P51854 VAR_029867 p.Leu24Phe LB/B rs17855509 - TKTL1 P51854 VAR_029868 p.Ile152Thr LB/B rs17852259 - TKTL1 P51854 VAR_087456 p.Arg317Lys LB/B rs111811311 - TKTL2 Q9H0I9 VAR_031990 p.Arg442Gln LB/B rs3811750 - TKTL2 Q9H0I9 VAR_031991 p.Gln590His LB/B rs11735477 - TLCD3B Q71RH2 VAR_086272 p.Gly56Ser US rs745587834 Cone-rod dystrophy 22 (CORD22) [MIM:619531] TLDC2 A0PJX2 VAR_050439 p.Gly102Arg LB/B rs3748460 - TLE2 Q04725 VAR_069063 p.Ser381Gly LB/B rs199788562 - TLE3 Q04726 VAR_053421 p.Ala229Val LB/B rs1057864 - TLE5 Q08117 VAR_011958 p.Ala168Glu LB/B rs1802578 - TLE6 Q9H808 VAR_076246 p.Ser510Tyr LP/P rs767222404 Oocyte/zygote/embryo maturation arrest 15 (OZEMA15) [MIM:616814] TLE6 Q9H808 VAR_084162 p.Gln74His US - Oocyte/zygote/embryo maturation arrest 15 (OZEMA15) [MIM:616814] TLE6 Q9H808 VAR_084163 p.Asp130Asn US rs769137034 Oocyte/zygote/embryo maturation arrest 15 (OZEMA15) [MIM:616814] TLE6 Q9H808 VAR_084164 p.Ala240Gly US - Oocyte/zygote/embryo maturation arrest 15 (OZEMA15) [MIM:616814] TLE6 Q9H808 VAR_084165 p.Thr298Arg US - Oocyte/zygote/embryo maturation arrest 15 (OZEMA15) [MIM:616814] TLE6 Q9H808 VAR_084166 p.Arg338His US rs763793074 Oocyte/zygote/embryo maturation arrest 15 (OZEMA15) [MIM:616814] TLE6 Q9H808 VAR_084167 p.Arg409Gln US rs1310808966 Oocyte/zygote/embryo maturation arrest 15 (OZEMA15) [MIM:616814] TLE6 Q9H808 VAR_084169 p.Val503Ile US rs551247575 Oocyte/zygote/embryo maturation arrest 15 (OZEMA15) [MIM:616814] TLE6 Q9H808 VAR_084170 p.Asp522His US - Oocyte/zygote/embryo maturation arrest 15 (OZEMA15) [MIM:616814] TLE6 Q9H808 VAR_084171 p.Glu541Lys US rs1176718387 Oocyte/zygote/embryo maturation arrest 15 (OZEMA15) [MIM:616814] TLK1 Q9UKI8 VAR_041215 p.Arg121Cys LB/B - - TLK2 Q86UE8 VAR_041216 p.His6Arg LB/B rs45550140 - TLK2 Q86UE8 VAR_041217 p.Glu54Asp LB/B - - TLK2 Q86UE8 VAR_041218 p.Ala95Gly LB/B rs2598147 - TLK2 Q86UE8 VAR_041219 p.Ala108Gly LB/B - - TLK2 Q86UE8 VAR_041220 p.Arg109Leu LB/B rs1555617262 - TLK2 Q86UE8 VAR_041221 p.Phe173Leu US rs1331331651 A gastric adenocarcinoma sample TLK2 Q86UE8 VAR_041222 p.Arg262Gln LB/B rs762409144 - TLK2 Q86UE8 VAR_081022 p.Gly297Asp US rs1555639254 Intellectual developmental disorder, autosomal dominant 57 (MRD57) [MIM:618050] TLK2 Q86UE8 VAR_081025 p.Arg339Gln US rs1567948287 Intellectual developmental disorder, autosomal dominant 57 (MRD57) [MIM:618050] TLK2 Q86UE8 VAR_081026 p.Arg339Trp US rs1567948262 Intellectual developmental disorder, autosomal dominant 57 (MRD57) [MIM:618050] TLK2 Q86UE8 VAR_081027 p.Glu447Lys US rs1567959483 Intellectual developmental disorder, autosomal dominant 57 (MRD57) [MIM:618050] TLK2 Q86UE8 VAR_081028 p.His493Arg LP/P rs1567974030 Intellectual developmental disorder, autosomal dominant 57 (MRD57) [MIM:618050] TLK2 Q86UE8 VAR_081029 p.His518Arg LP/P rs1567995650 Intellectual developmental disorder, autosomal dominant 57 (MRD57) [MIM:618050] TLK2 Q86UE8 VAR_081030 p.Arg568Trp LP/P rs1283838287 Intellectual developmental disorder, autosomal dominant 57 (MRD57) [MIM:618050] TLK2 Q86UE8 VAR_081032 p.Asp629Asn LP/P rs1568006217 Intellectual developmental disorder, autosomal dominant 57 (MRD57) [MIM:618050] TLK2 Q86UE8 VAR_081033 p.Pro680Arg LP/P rs1568018905 Intellectual developmental disorder, autosomal dominant 57 (MRD57) [MIM:618050] TLK2 Q86UE8 VAR_087041 p.Asp551Gly US rs2082811958 Intellectual developmental disorder, autosomal dominant 57 (MRD57) [MIM:618050] TLK2 Q86UE8 VAR_087042 p.Ser617Leu LP/P rs2082914686 Intellectual developmental disorder, autosomal dominant 57 (MRD57) [MIM:618050] TLL1 O43897 VAR_036142 p.Leu688Val US - A breast cancer sample TLL1 O43897 VAR_051585 p.Thr958Ala LB/B rs2291822 - TLL1 O43897 VAR_062519 p.Met182Leu LP/P rs137852951 Atrial septal defect 6 (ASD6) [MIM:613087] TLL1 O43897 VAR_062520 p.Val238Ala LP/P rs137852952 Atrial septal defect 6 (ASD6) [MIM:613087] TLL1 O43897 VAR_062521 p.Ile629Val LP/P rs137852953 Atrial septal defect 6 (ASD6) [MIM:613087] TLN1 Q9Y490 VAR_023751 p.Ser1227Leu LB/B rs2295795 - TLN1 Q9Y490 VAR_023752 p.Arg1919Trp LB/B rs17854239 - TLN1 Q9Y490 VAR_055538 p.Ala1984Thr LB/B rs35642290 - TLN2 Q9Y4G6 VAR_014432 p.Ala1148Ser LB/B rs2280279 - TLN2 Q9Y4G6 VAR_014433 p.Phe2266Leu LB/B rs3816988 - TLN2 Q9Y4G6 VAR_055313 p.Val340Ala LB/B rs11634784 - TLN2 Q9Y4G6 VAR_055314 p.Val1877Ile LB/B rs7182971 - TLN2 Q9Y4G6 VAR_055315 p.Thr2144Ile LB/B rs11633796 - TLN2 Q9Y4G6 VAR_059136 p.Ala1148Thr LB/B rs2280279 - TLN2 Q9Y4G6 VAR_076545 p.Ser339Leu US rs1343670062 - TLR1 Q15399 VAR_018474 p.His118Tyr LB/B rs5743612 - TLR1 Q15399 VAR_031916 p.Arg80Thr LB/B rs5743611 - TLR1 Q15399 VAR_031917 p.Asn248Ser LB/B rs4833095 - TLR1 Q15399 VAR_031918 p.His305Leu LB/B rs3923647 - TLR1 Q15399 VAR_031919 p.Pro315Leu LB/B rs5743613 - TLR1 Q15399 VAR_031920 p.Val587Gly LB/B rs5743617 - TLR1 Q15399 VAR_031921 p.Ser602Ile LB/B rs5743618 - TLR1 Q15399 VAR_052358 p.Leu631Arg LB/B rs5743619 - TLR1 Q15399 VAR_052359 p.Pro733Leu LB/B rs5743621 - TLR1 Q15399 VAR_066340 p.Ser44Pro LB/B rs76600635 - TLR1 Q15399 VAR_066341 p.Ile75Thr LB/B rs137853170 - TLR1 Q15399 VAR_066342 p.His352Asn LB/B rs76796448 - TLR1 Q15399 VAR_066343 p.Ile460Val LB/B rs137853171 - TLR1 Q15399 VAR_066344 p.Val542Ala LB/B rs137853172 - TLR1 Q15399 VAR_066345 p.Tyr554Cys LB/B rs137853173 - TLR1 Q15399 VAR_066346 p.Val651Ala LB/B rs137853174 - TLR1 Q15399 VAR_066347 p.Val674Ala LB/B - - TLR1 Q15399 VAR_066348 p.His720Pro LB/B rs113706342 - TLR10 Q9BXR5 VAR_024669 p.Ala163Ser LB/B rs11466649 - TLR10 Q9BXR5 VAR_024670 p.Asn241His LB/B rs11096957 - TLR10 Q9BXR5 VAR_024671 p.Met326Thr LB/B rs11466653 - TLR10 Q9BXR5 VAR_024672 p.Ile369Leu LB/B rs11096955 - TLR10 Q9BXR5 VAR_024673 p.Gly381Asp LB/B rs11466655 - TLR10 Q9BXR5 VAR_024674 p.Arg525Trp LB/B rs11466658 - TLR10 Q9BXR5 VAR_028125 p.Leu167Pro LB/B rs11466650 - TLR10 Q9BXR5 VAR_028126 p.Val298Ile LB/B rs11466651 - TLR10 Q9BXR5 VAR_028127 p.Arg469Gly LB/B rs11466656 - TLR10 Q9BXR5 VAR_028128 p.Ile473Thr LB/B rs11466657 - TLR10 Q9BXR5 VAR_028129 p.Tyr736Cys LB/B rs11466660 - TLR10 Q9BXR5 VAR_028130 p.Ile775Leu LB/B rs4129009 - TLR10 Q9BXR5 VAR_028131 p.Arg799Gln LB/B rs4129008 - TLR10 Q9BXR5 VAR_059832 p.Ile775Phe LB/B rs4129009 - TLR10 Q9BXR5 VAR_059833 p.Ile775Val LB/B rs4129009 - TLR10 Q9BXR5 VAR_059834 p.Arg799Leu LB/B rs4129008 - TLR10 Q9BXR5 VAR_059835 p.Arg799Pro LB/B rs4129008 - TLR2 O60603 VAR_024663 p.Pro631His LB/B rs5743704 - TLR2 O60603 VAR_026765 p.Thr411Ile LB/B rs5743699 - TLR2 O60603 VAR_026766 p.Arg579His LB/B rs5743703 - TLR2 O60603 VAR_031236 p.Arg677Trp LB/B rs121917864 - TLR2 O60603 VAR_031237 p.Arg753Gln LB/B rs5743708 - TLR2 O60603 VAR_052360 p.Tyr715Asn LB/B rs5743706 - TLR2 O60603 VAR_066349 p.Asn89Asp LB/B rs137853176 - TLR2 O60603 VAR_066350 p.Arg571His LB/B rs61735277 - TLR2 O60603 VAR_066351 p.Ser636Arg LB/B rs137853177 - TLR3 O15455 VAR_021976 p.Leu412Phe LB/B rs3775291 - TLR3 O15455 VAR_024664 p.Ser737Thr LB/B rs5743318 - TLR3 O15455 VAR_052361 p.Asn284Ile LB/B rs5743316 - TLR3 O15455 VAR_052362 p.Tyr307Asp LB/B rs5743317 - TLR3 O15455 VAR_054887 p.Pro554Ser LP/P rs121434431 Immunodeficiency 83, susceptibility to viral infections (IMD83) [MIM:613002] TLR3 O15455 VAR_084046 p.Ser134Pro US - - TLR3 O15455 VAR_084047 p.Arg251Gly LB/B rs780051344 - TLR3 O15455 VAR_084048 p.Phe732Leu LB/B rs988586598 - TLR3 O15455 VAR_084051 p.Arg867Gln LB/B rs199768900 - TLR3 O15455 VAR_084052 p.Met870Val US - - TLR4 O00206 VAR_012739 p.Asp299Gly LB/B rs4986790 - TLR4 O00206 VAR_012740 p.Thr399Ile LB/B rs4986791 - TLR4 O00206 VAR_018729 p.Gln188Arg LB/B rs5030713 - TLR4 O00206 VAR_018730 p.Cys246Ser LB/B rs5030714 - TLR4 O00206 VAR_018731 p.Asn329Ser LB/B rs5030715 - TLR4 O00206 VAR_018732 p.Phe443Leu LB/B rs5030716 - TLR4 O00206 VAR_018733 p.Glu474Lys LB/B rs5030718 - TLR4 O00206 VAR_018734 p.Gln510His LB/B rs5030719 - TLR4 O00206 VAR_018735 p.Lys694Arg LB/B rs5030722 - TLR4 O00206 VAR_018736 p.Arg763His LB/B rs5030723 - TLR4 O00206 VAR_018737 p.Gln834His LB/B - - TLR4 O00206 VAR_020334 p.Phe342Tyr LB/B rs5031050 - TLR4 O00206 VAR_020335 p.Ser400Asn LB/B rs4987233 - TLR4 O00206 VAR_021977 p.Thr175Ala LB/B rs16906079 - TLR4 O00206 VAR_037668 p.Leu385Phe LB/B rs11536884 - TLR4 O00206 VAR_047563 p.Cys306Trp LB/B rs2770145 - TLR4 O00206 VAR_047564 p.Val310Gly LB/B rs2770144 - TLR4 O00206 VAR_074187 p.Glu287Asp LB/B - - TLR5 O60602 VAR_018399 p.Asn592Ser LB/B rs2072493 - TLR5 O60602 VAR_018400 p.Phe616Leu LB/B rs5744174 - TLR5 O60602 VAR_032455 p.Thr82Ile LB/B rs764535 - TLR5 O60602 VAR_032456 p.Pro112Ala LB/B rs5744166 - TLR5 O60602 VAR_061856 p.Asn143Thr LB/B rs5744167 - TLR5 O60602 VAR_061857 p.Gln181Lys LB/B rs45528236 - TLR5 O60602 VAR_061858 p.Leu769Phe LB/B rs56243703 - TLR5 O60602 VAR_070457 p.Ile644Phe LB/B rs5744175 - TLR6 Q9Y2C9 VAR_057289 p.Ile120Thr LB/B rs5743808 - TLR6 Q9Y2C9 VAR_057290 p.Leu194Pro LB/B rs5743809 - TLR6 Q9Y2C9 VAR_057291 p.Arg247Lys LB/B rs35220466 - TLR6 Q9Y2C9 VAR_057292 p.Val327Met LB/B rs3796508 - TLR6 Q9Y2C9 VAR_057293 p.His345Tyr LB/B rs5743813 - TLR6 Q9Y2C9 VAR_057294 p.Val427Ala LB/B rs5743815 - TLR6 Q9Y2C9 VAR_057295 p.Val465Ile LB/B rs5743816 - TLR6 Q9Y2C9 VAR_057296 p.Ala474Thr LB/B rs5743817 - TLR6 Q9Y2C9 VAR_057297 p.Met783Val LB/B rs5743822 - TLR6 Q9Y2C9 VAR_063110 p.Ser249Pro LB/B rs5743810 - TLR6 Q9Y2C9 VAR_066352 p.Leu128Val LB/B rs137853178 - TLR6 Q9Y2C9 VAR_066353 p.Ala210Gly LB/B rs137853180 - TLR6 Q9Y2C9 VAR_066354 p.Ala210Thr LB/B rs137853179 - TLR6 Q9Y2C9 VAR_066355 p.Ile283Val LB/B rs137853181 - TLR6 Q9Y2C9 VAR_066356 p.Asp442Ala LB/B rs137853182 - TLR6 Q9Y2C9 VAR_066357 p.Ala474Val LB/B rs1302799168 - TLR6 Q9Y2C9 VAR_066358 p.Gly592Val LB/B rs75244616 - TLR6 Q9Y2C9 VAR_066359 p.Asn690Thr LB/B rs114855575 - TLR6 Q9Y2C9 VAR_066360 p.Gln708His LB/B rs137853183 - TLR7 Q9NYK1 VAR_024665 p.Ala448Val LB/B rs5743781 - TLR7 Q9NYK1 VAR_034554 p.Gln11Leu LB/B rs179008 - TLR7 Q9NYK1 VAR_084629 p.Val795Phe LP/P rs200553089 Immunodeficiency 74, COVID19-related, X-linked (IMD74) [MIM:301051] TLR7 Q9NYK1 VAR_087534 p.Arg28Gly LP/P - Systemic lupus erythematosus 17 (SLEB17) [MIM:301080] TLR7 Q9NYK1 VAR_087535 p.Tyr264His LP/P - Systemic lupus erythematosus 17 (SLEB17) [MIM:301080] TLR7 Q9NYK1 VAR_087536 p.Phe507Leu LP/P - Systemic lupus erythematosus 17 (SLEB17) [MIM:301080] TLR8 Q9NR97 VAR_024667 p.Met10Val LB/B rs5744077 - TLR8 Q9NR97 VAR_052363 p.Arg715Gln LB/B rs5744082 - TLR8 Q9NR97 VAR_087088 p.Pro432Leu LP/P - Immunodeficiency 98 with autoinflammation, X-linked (IMD98) [MIM:301078] TLR8 Q9NR97 VAR_087089 p.Phe494Leu LP/P - Immunodeficiency 98 with autoinflammation, X-linked (IMD98) [MIM:301078] TLR8 Q9NR97 VAR_087090 p.Gly572Asp LP/P rs1385657144 Immunodeficiency 98 with autoinflammation, X-linked (IMD98) [MIM:301078] TLR8 Q9NR97 VAR_087091 p.Gly572Val LP/P - Immunodeficiency 98 with autoinflammation, X-linked (IMD98) [MIM:301078] TLR9 Q9NR96 VAR_024668 p.Arg5Cys LB/B rs5743842 - TLR9 Q9NR96 VAR_034555 p.Arg863Gln LB/B rs5743845 - TLR9 Q9NR96 VAR_036077 p.Arg901His US rs755472700 A colorectal cancer sample TLR9 Q9NR96 VAR_036078 p.Thr933Met US rs746622200 A colorectal cancer sample TLR9 Q9NR96 VAR_052364 p.His79Gln LB/B rs5743843 - TLR9 Q9NR96 VAR_052365 p.Ala882Thr LB/B rs5743846 - TM4SF19 Q96DZ7 VAR_057280 p.Val162Ile LB/B rs35643777 - TM4SF19 Q96DZ7 VAR_060546 p.Gln8Pro LB/B rs6785339 - TM4SF20 Q53R12 VAR_027673 p.Ala27Val LB/B rs7574414 - TM6SF1 Q9BZW5 VAR_012844 p.Ile17Thr LB/B rs1062232 - TM6SF1 Q9BZW5 VAR_024661 p.Pro59Ser LB/B rs1989 - TM6SF2 Q9BZW4 VAR_062153 p.Glu167Lys LB/B rs58542926 - TM7SF2 O76062 VAR_012716 p.Thr299Ile LB/B rs1129195 - TM7SF2 O76062 VAR_052153 p.Ala119Val LB/B rs11539360 - TM7SF3 Q9NS93 VAR_034556 p.Pro179Arg LB/B rs34735713 - TM7SF3 Q9NS93 VAR_051437 p.Pro248Leu LB/B rs10771314 - TM9SF1 O15321 VAR_024662 p.Arg215His LB/B rs10583 - TM9SF1 O15321 VAR_053728 p.Leu18Met LB/B rs11549700 - TMA16 Q96EY4 VAR_039349 p.Gln65Pro LB/B rs2304802 - TMA16 Q96EY4 VAR_039350 p.Ile176Thr LB/B rs1561736 - TMA16 Q96EY4 VAR_054013 p.Arg12Gln LB/B rs34907234 - TMBIM1 Q969X1 VAR_017382 p.Pro21Leu LB/B rs2292553 - TMBIM4 Q9HC24 VAR_014946 p.Ile88Thr LB/B rs8793 - TMBIM4 Q9HC24 VAR_055547 p.Ala2Val LB/B rs11176070 - TMC1 Q8TDI8 VAR_014125 p.Asp572Asn LP/P rs121908072 Deafness, autosomal dominant, 36 (DFNA36) [MIM:606705] TMC1 Q8TDI8 VAR_014126 p.Met654Val LP/P rs121908074 Deafness, autosomal recessive, 7 (DFNB7) [MIM:600974] TMC1 Q8TDI8 VAR_052333 p.Glu81Lys LB/B rs1796993 - TMC1 Q8TDI8 VAR_052334 p.Arg141Trp LB/B rs11143384 - TMC1 Q8TDI8 VAR_052335 p.Met486Thr LB/B rs17058153 - TMC2 Q8TDI7 VAR_023360 p.Arg123Lys LB/B rs6050063 - TMC2 Q8TDI7 VAR_030621 p.Ser573Cys LB/B rs16987592 - TMC2 Q8TDI7 VAR_030622 p.Glu800Gln LB/B rs768537423 - TMC2 Q8TDI7 VAR_057281 p.Gln205Arg LB/B rs11908093 - TMC2 Q8TDI7 VAR_057282 p.Trp217Arg LB/B rs34884202 - TMC2 Q8TDI7 VAR_057283 p.Ser589Cys LB/B rs16987592 - TMC2 Q8TDI7 VAR_057284 p.Glu816Gln LB/B rs6115242 - TMC3 Q7Z5M5 VAR_066557 p.Val196Ile LB/B rs7497202 - TMC3 Q7Z5M5 VAR_066558 p.Cys893Tyr LB/B rs11636318 - TMC3 Q7Z5M5 VAR_066559 p.Arg1012Lys LB/B rs8031046 - TMC3 Q7Z5M5 VAR_066560 p.Asp1099Asn LB/B rs4417518 - TMC4 Q7Z404 VAR_032621 p.Gly17Glu LB/B rs641738 - TMC4 Q7Z404 VAR_032622 p.Gln689Glu LB/B rs36657 - TMC5 Q6UXY8 VAR_057285 p.Ser328Asn LB/B rs16972013 - TMC5 Q6UXY8 VAR_061850 p.Ala355Thr LB/B rs36019638 - TMC6 Q7Z403 VAR_023963 p.Trp125Arg LB/B rs2748427 - TMC6 Q7Z403 VAR_052336 p.Leu153Phe LB/B rs12449858 - TMC6 Q7Z403 VAR_061851 p.Gly191Asp LB/B rs34712518 - TMC7 Q7Z402 VAR_032278 p.Arg59Trp LB/B rs17854512 - TMC7 Q7Z402 VAR_032279 p.Gly254Glu LB/B rs4072393 - TMC7 Q7Z402 VAR_032280 p.Thr635Ile LB/B rs11864159 - TMC7 Q7Z402 VAR_061852 p.Thr355Ser LB/B rs55796412 - TMC8 Q8IU68 VAR_023964 p.Asn306Ile LB/B rs7208422 - TMC8 Q8IU68 VAR_052337 p.Val501Ile LB/B rs11651675 - TMCC1 O94876 VAR_047918 p.Ser165Gly LB/B rs784689 - TMCC3 Q9ULS5 VAR_063144 p.Tyr16Asp LB/B rs1274523 - TMCC3 Q9ULS5 VAR_063145 p.Pro232Gln LB/B rs17854038 - TMCO3 Q6UWJ1 VAR_050037 p.Ala443Thr LB/B rs2260335 - TMCO3 Q6UWJ1 VAR_050038 p.Ala445Thr LB/B rs7319493 - TMCO3 Q6UWJ1 VAR_076964 p.Pro14Leu US rs185071949 - TMCO4 Q5TGY1 VAR_035169 p.Gln72Lys LB/B rs10917536 - TMCO4 Q5TGY1 VAR_035170 p.Arg478His LB/B rs4515815 - TMCO6 Q96DC7 VAR_035171 p.Thr299Ser LB/B rs17208187 - TMED1 Q13445 VAR_036533 p.Asp102Asn US - A breast cancer sample TMED10 P49755 VAR_012051 p.Ser64Tyr LB/B rs4929 - TMED10 P49755 VAR_049111 p.Arg152Gly LB/B rs17103066 - TMED3 Q9Y3Q3 VAR_049110 p.Asp86Asn LB/B rs3784543 - TMED5 Q9Y3A6 VAR_017150 p.Thr175Ile LB/B rs1060622 - TMED8 Q6PL24 VAR_049112 p.Gln5Lys LB/B rs3742737 - TMED9 Q9BVK6 VAR_061178 p.Thr16Ser LB/B rs57960711 - TMEFF1 Q8IYR6 VAR_032060 p.Val189Ile LB/B rs35624603 - TMEM102 Q8N9M5 VAR_029595 p.Ala110Val LB/B rs3809718 - TMEM104 Q8NE00 VAR_028831 p.Val58Met LB/B rs2016126 - TMEM104 Q8NE00 VAR_028832 p.Ala439Thr LB/B rs3803784 - TMEM105 Q8N8V8 VAR_051426 p.Arg122Trp LB/B rs9916085 - TMEM106B Q9NUM4 VAR_026849 p.Thr185Ser LB/B rs3173615 - TMEM106B Q9NUM4 VAR_081068 p.Asp252Asn LP/P rs1554310600 Leukodystrophy, hypomyelinating, 16 (HLD16) [MIM:617964] TMEM106C Q9BVX2 VAR_026868 p.Ser175Phe LB/B rs2286025 - TMEM106C Q9BVX2 VAR_052338 p.Val103Phe LB/B rs35000511 - TMEM107 Q6UX40 VAR_079328 p.Glu45Gly LP/P rs1555526172 Orofaciodigital syndrome 16 (OFD16) [MIM:617563] TMEM108 Q6UXF1 VAR_051427 p.Pro84Leu LB/B rs34111099 - TMEM114 B3SHH9 VAR_058707 p.Ile35Thr LB/B rs1048548807 - TMEM114 B3SHH9 VAR_058708 p.Ala147Val LB/B rs141472774 - TMEM114 B3SHH9 VAR_058709 p.Phe206Leu LB/B - - TMEM116 Q8NCL8 VAR_027659 p.Cys22Gly LB/B rs3752630 - TMEM117 Q9H0C3 VAR_027660 p.Arg90His LB/B rs1948516 - TMEM119 Q4V9L6 VAR_027663 p.Ile72Thr LB/B rs7975237 - TMEM120A Q9BXJ8 VAR_036933 p.Gln86Arg LB/B rs17852664 - TMEM120A Q9BXJ8 VAR_036934 p.Thr201Ala LB/B rs17855697 - TMEM123 Q8N131 VAR_053023 p.Val71Met LB/B rs2155587 - TMEM123 Q8N131 VAR_053024 p.Val86Phe LB/B rs11547915 - TMEM123 Q8N131 VAR_053025 p.Ala158Thr LB/B rs12288849 - TMEM125 Q96AQ2 VAR_035669 p.Arg107Leu US - A breast cancer sample TMEM125 Q96AQ2 VAR_051428 p.Ala112Asp LB/B rs35880191 - TMEM126A Q9H061 VAR_053817 p.Arg64His LB/B rs11556797 - TMEM126B Q8IUX1 VAR_031188 p.Ala198Val LB/B rs17850847 - TMEM126B Q8IUX1 VAR_081465 p.Gly212Val LP/P rs141542003 Mitochondrial complex I deficiency, nuclear type 29 (MC1DN29) [MIM:618250] TMEM127 O75204 VAR_063595 p.Val90Met LP/P rs121908823 Pheochromocytoma (PCC) [MIM:171300] TMEM127 O75204 VAR_072273 p.Trp53Ser LP/P rs121908818 Pheochromocytoma (PCC) [MIM:171300] TMEM127 O75204 VAR_072274 p.Asp70Asn LP/P rs121908819 Pheochromocytoma (PCC) [MIM:171300] TMEM127 O75204 VAR_072275 p.Gly73Arg LP/P rs121908820 Pheochromocytoma (PCC) [MIM:171300] TMEM127 O75204 VAR_072276 p.Arg94Trp LP/P rs121908824 Pheochromocytoma (PCC) [MIM:171300] TMEM127 O75204 VAR_072277 p.Cys140Arg LP/P rs121908827 Pheochromocytoma (PCC) [MIM:171300] TMEM127 O75204 VAR_072278 p.Cys140Tyr LP/P rs121908828 Pheochromocytoma (PCC) [MIM:171300] TMEM128 Q5BJH2 VAR_080190 p.Leu16Ile LB/B rs6854167 - TMEM129 A0AVI4 VAR_032803 p.Leu83Ile LB/B rs798752 - TMEM130 Q8N3G9 VAR_030740 p.Glu407Val LB/B rs17161477 - TMEM131L A2VDJ0 VAR_042551 p.Ile604Val LB/B rs7669418 - TMEM131L A2VDJ0 VAR_042552 p.Met645Thr LB/B rs17370297 - TMEM131L A2VDJ0 VAR_042553 p.Ser1110Tyr LB/B rs755078 - TMEM131L A2VDJ0 VAR_042554 p.Asn1254Ser LB/B rs35018723 - TMEM131L A2VDJ0 VAR_042555 p.Ala1392Pro LB/B rs35543386 - TMEM132A Q24JP5 VAR_032262 p.Arg699His LB/B rs524523 - TMEM132A Q24JP5 VAR_032263 p.Ala969Val LB/B rs2469887 - TMEM132B Q14DG7 VAR_031786 p.Ala658Val LB/B rs16919359 - TMEM132C Q8N3T6 VAR_039832 p.His161Arg LB/B rs11059681 - TMEM132C Q8N3T6 VAR_039833 p.Val232Met LB/B rs12307622 - TMEM132C Q8N3T6 VAR_039834 p.Val272Ile LB/B rs1683723 - TMEM132C Q8N3T6 VAR_039835 p.Val444Ile LB/B rs4272850 - TMEM132C Q8N3T6 VAR_039836 p.Thr730Ser LB/B rs12426596 - TMEM132C Q8N3T6 VAR_039837 p.Phe799Ile LB/B rs12301587 - TMEM132C Q8N3T6 VAR_039838 p.Gly810Arg LB/B rs12424159 - TMEM132D Q14C87 VAR_032264 p.Leu878Phe LB/B rs555131 - TMEM132D Q14C87 VAR_053887 p.Glu436Gln LB/B rs12816729 - TMEM132D Q14C87 VAR_053888 p.Asp460His LB/B rs12816538 - TMEM132E Q6IEE7 VAR_073717 p.Arg510Gln LP/P rs139895222 Deafness, autosomal recessive, 99 (DFNB99) [MIM:618481] TMEM132E-DT A2RUQ5 VAR_046187 p.Gly98Arg LB/B rs58529418 - TMEM132E-DT A2RUQ5 VAR_046188 p.Arg155Lys LB/B rs887230 - TMEM135 Q86UB9 VAR_031787 p.Pro193His LB/B rs17854687 - TMEM135 Q86UB9 VAR_031788 p.Gly218Arg LB/B rs2276102 - TMEM135 Q86UB9 VAR_031789 p.Gly430Ala LB/B rs11235097 - TMEM138 Q9NPI0 VAR_067059 p.His96Arg LP/P rs387907132 Joubert syndrome 16 (JBTS16) [MIM:614465] TMEM138 Q9NPI0 VAR_067060 p.Ala126Thr LP/P rs387907134 Joubert syndrome 16 (JBTS16) [MIM:614465] TMEM138 Q9NPI0 VAR_067061 p.Ala127Val LP/P rs387907133 Joubert syndrome 16 (JBTS16) [MIM:614465] TMEM138 Q9NPI0 VAR_067062 p.Tyr130Cys LP/P rs387907135 Joubert syndrome 16 (JBTS16) [MIM:614465] TMEM140 Q9NV12 VAR_030262 p.Pro6Ser LB/B rs292500 - TMEM140 Q9NV12 VAR_030263 p.Arg7Gln LB/B rs3800592 - TMEM140 Q9NV12 VAR_030264 p.Gln11Glu LB/B rs11558290 - TMEM140 Q9NV12 VAR_030265 p.Phe29Leu LB/B rs292501 - TMEM140 Q9NV12 VAR_035670 p.Ala112Glu US rs292502 A colorectal cancer sample TMEM143 Q96AN5 VAR_032058 p.Asp143Asn LB/B rs34488893 - TMEM144 Q7Z5S9 VAR_032544 p.Asp157Gly LB/B rs34277853 - TMEM145 Q8NBT3 VAR_060400 p.Leu256Met LB/B rs7254227 - TMEM147 Q9BVK8 VAR_051429 p.Tyr132His LB/B rs1269215 - TMEM147 Q9BVK8 VAR_087576 p.Gly7Arg LP/P - Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly (NEDFLPH) [MIM:620075] TMEM147 Q9BVK8 VAR_087579 p.Ile133Asn LP/P - Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly (NEDFLPH) [MIM:620075] TMEM147 Q9BVK8 VAR_087581 p.Arg166Trp LP/P - Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly (NEDFLPH) [MIM:620075] TMEM14A Q9Y6G1 VAR_052497 p.Cys37Arg LB/B rs11543266 - TMEM14C Q9P0S9 VAR_046947 p.Ser106Arg LB/B rs1045961 - TMEM14C Q9P0S9 VAR_046948 p.Phe108Leu LB/B rs1045964 - TMEM14C Q9P0S9 VAR_046949 p.Asn109Ile LB/B rs1045967 - TMEM14C Q9P0S9 VAR_046950 p.His112Asp LB/B rs1045986 - TMEM14DP A8MWL7 VAR_045605 p.Arg108Cys LB/B rs5030881 - TMEM14EP Q6UXP3 VAR_046161 p.Leu82Pro LB/B rs13077912 - TMEM150B A6NC51 VAR_046343 p.Leu199Phe LB/B rs7246479 - TMEM151A Q8N4L1 VAR_088183 p.Cys45Gly US - Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088184 p.Cys45Arg US - Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088185 p.Leu47Pro US rs370848469 Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088187 p.Gly56Arg LP/P - Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088188 p.Pro68Leu US rs777876882 Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088190 p.Thr166Lys US - Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088191 p.Arg167Cys US - Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088192 p.Phe193Ser US - Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088193 p.Tyr235Cys US - Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088196 p.Leu253Pro US - Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088197 p.Glu257Lys US rs939052973 Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088198 p.Val264Ala US rs916841534 Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088199 p.Val272Ala US rs774742558 Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088200 p.Pro276Leu US rs761037709 Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088201 p.Pro276Arg US rs761037709 Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088202 p.Tyr282Cys US rs1441346523 Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088203 p.Phe288Ser US - Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088204 p.Ser297Thr US - Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088205 p.Thr308Ala LB/B - - TMEM151A Q8N4L1 VAR_088206 p.His310Tyr US - Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088207 p.Phe319Leu US - Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088208 p.Ser322Asn LB/B - - TMEM151A Q8N4L1 VAR_088209 p.Gly332Arg LB/B - - TMEM151A Q8N4L1 VAR_088210 p.Asp342Glu LB/B - - TMEM151A Q8N4L1 VAR_088212 p.Cys351Arg US - Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088213 p.Pro358Leu US - Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088214 p.Ser361Pro US - Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088215 p.Glu362Gly US - Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245] TMEM151A Q8N4L1 VAR_088216 p.Arg393Gly LB/B rs749310041 - TMEM154 Q6P9G4 VAR_031755 p.Ser93Phe LB/B rs17855714 - TMEM156 Q8N614 VAR_031756 p.Tyr48Cys LB/B rs35576563 - TMEM156 Q8N614 VAR_031757 p.Met212Thr LB/B rs2276887 - TMEM156 Q8N614 VAR_051430 p.Ser105Pro LB/B rs11542133 - TMEM160 Q9NX00 VAR_030600 p.Gly120Ser LB/B rs11083857 - TMEM161A Q9NX61 VAR_036537 p.Glu85Val US - A breast cancer sample TMEM163 Q8TC26 VAR_088115 p.Ser61Arg LB/B rs531340951 - TMEM163 Q8TC26 VAR_088116 p.Leu76Pro LP/P - Leukodystrophy, hypomyelinating, 25 (HLD25) [MIM:620243] TMEM163 Q8TC26 VAR_088117 p.Leu76Arg LP/P - Leukodystrophy, hypomyelinating, 25 (HLD25) [MIM:620243] TMEM163 Q8TC26 VAR_088118 p.Ser95Cys LB/B rs202199940 - TMEM163 Q8TC26 VAR_088119 p.Arg138Cys LP/P - Leukodystrophy, hypomyelinating, 25 (HLD25) [MIM:620243] TMEM163 Q8TC26 VAR_088120 p.His146Arg US - Leukodystrophy, hypomyelinating, 25 (HLD25) [MIM:620243] TMEM163 Q8TC26 VAR_088121 p.Ser193Pro LB/B rs113424259 - TMEM163 Q8TC26 VAR_088122 p.Glu286Lys LB/B rs371768391 - TMEM164 Q5U3C3 VAR_035671 p.Tyr276His US - A colorectal cancer sample TMEM164 Q5U3C3 VAR_054035 p.Ser204Asn LB/B rs34026111 - TMEM165 Q9HC07 VAR_068446 p.Arg126Cys LP/P rs387907222 Congenital disorder of glycosylation 2K (CDG2K) [MIM:614727] TMEM165 Q9HC07 VAR_068447 p.Arg126His LP/P rs387907221 Congenital disorder of glycosylation 2K (CDG2K) [MIM:614727] TMEM165 Q9HC07 VAR_068448 p.Gly304Arg LP/P rs886037631 Congenital disorder of glycosylation 2K (CDG2K) [MIM:614727] TMEM165 Q9HC07 VAR_088436 p.Glu108Gly LP/P - Congenital disorder of glycosylation 2K (CDG2K) [MIM:614727] TMEM168 Q9H0V1 VAR_087377 p.Arg539Gln US - - TMEM17 Q86X19 VAR_028864 p.Gly26Ser LB/B rs17854454 - TMEM17 Q86X19 VAR_075897 p.Asn102Lys US rs201339749 - TMEM171 Q8WVE6 VAR_057003 p.Phe23Leu LB/B rs638333 - TMEM171 Q8WVE6 VAR_057004 p.Arg86Gly LB/B rs637450 - TMEM171 Q8WVE6 VAR_057005 p.Asn139Lys LB/B rs636926 - TMEM175 Q9BSA9 VAR_053873 p.Gln65Pro LB/B rs34884217 - TMEM175 Q9BSA9 VAR_053874 p.Met393Thr LB/B rs34311866 - TMEM176A Q96HP8 VAR_031032 p.Thr122Ala LB/B rs741064 - TMEM176A Q96HP8 VAR_031033 p.Leu187Phe LB/B rs10378 - TMEM176A Q96HP8 VAR_031034 p.Thr208Ala LB/B rs9088 - TMEM176B Q3YBM2 VAR_031035 p.Pro55Ser LB/B rs11546671 - TMEM176B Q3YBM2 VAR_031036 p.Thr70Ala LB/B rs28434777 - TMEM176B Q3YBM2 VAR_031037 p.Ser94Arg LB/B rs3173833 - TMEM176B Q3YBM2 VAR_031038 p.Ala134Thr LB/B rs2072443 - TMEM176B Q3YBM2 VAR_031039 p.Arg180Trp LB/B rs17256042 - TMEM176B Q3YBM2 VAR_057766 p.Gly40Glu LB/B rs10240587 - TMEM177 Q53S58 VAR_031421 p.Gly29Ala LB/B rs11684353 - TMEM177 Q53S58 VAR_031422 p.Ile32Val LB/B rs13011768 - TMEM177 Q53S58 VAR_031423 p.Asp267Glu LB/B rs1983406 - TMEM178A Q8NBL3 VAR_032296 p.Leu107Val LB/B rs17852679 - TMEM182 Q6ZP80 VAR_032773 p.Trp223Arg LB/B rs887987 - TMEM183A Q8IXX5 VAR_023205 p.Arg10Met LB/B rs11558253 - TMEM183A Q8IXX5 VAR_023206 p.Ala80Thr LB/B rs6678040 - TMEM183BP Q1AE95 VAR_030867 p.Met193Val LB/B rs7630407 - TMEM184A Q6ZMB5 VAR_060120 p.Ser390Gly LB/B rs3779607 - TMEM184A Q6ZMB5 VAR_062157 p.Ala18Val LB/B rs17852421 - TMEM185A Q8NFB2 VAR_033922 p.Met179Val LB/B rs1398828734 - TMEM185A Q8NFB2 VAR_033923 p.Cys243Ser LB/B rs200553350 - TMEM187 Q14656 VAR_051431 p.Ser70Leu LB/B rs2266890 - TMEM187 Q14656 VAR_051432 p.Met78Val LB/B rs7350355 - TMEM187 Q14656 VAR_051433 p.Arg138Gln LB/B rs36085378 - TMEM199 Q8N511 VAR_033749 p.Val158Ile LB/B rs12572 - TMEM199 Q8N511 VAR_033750 p.Leu166Val LB/B rs36106147 - TMEM199 Q8N511 VAR_075770 p.Ala7Gly LP/P rs369488804 Congenital disorder of glycosylation 2P (CDG2P) [MIM:616829] TMEM199 Q8N511 VAR_075771 p.Ala14Pro LP/P rs869025586 Congenital disorder of glycosylation 2P (CDG2P) [MIM:616829] TMEM199 Q8N511 VAR_075772 p.Arg31Pro LP/P rs782531869 Congenital disorder of glycosylation 2P (CDG2P) [MIM:616829] TMEM202 A6NGA9 VAR_051434 p.Met204Leu LB/B rs16956904 - TMEM204 Q9BSN7 VAR_051435 p.Gly57Ala LB/B rs1057612 - TMEM207 Q6UWW9 VAR_051436 p.Leu57Val LB/B rs35161724 - TMEM208 Q9BTX3 VAR_039958 p.Asp82Tyr LB/B rs17851038 - TMEM208 Q9BTX3 VAR_053933 p.Leu102Pro LB/B rs11553801 - TMEM209 Q96SK2 VAR_042918 p.Pro469Arg LB/B rs17857472 - TMEM209 Q96SK2 VAR_042919 p.His505Arg LB/B rs17854938 - TMEM214 Q6NUQ4 VAR_039370 p.Val351Met LB/B rs1124649 - TMEM216 Q9P0N5 VAR_063388 p.Arg73Leu LP/P rs201108965 Joubert syndrome 2 (JBTS2) [MIM:608091] TMEM216 Q9P0N5 VAR_064028 p.Arg73Cys LP/P rs779526456 Joubert syndrome 2 (JBTS2) [MIM:608091] TMEM216 Q9P0N5 VAR_064029 p.Arg73His LP/P rs201108965 Joubert syndrome 2 (JBTS2) [MIM:608091] TMEM216 Q9P0N5 VAR_064029 p.Arg73His LP/P rs201108965 Meckel syndrome 2 (MKS2) [MIM:603194] TMEM216 Q9P0N5 VAR_064030 p.Gly77Ala LP/P rs386833830 Meckel syndrome 2 (MKS2) [MIM:603194] TMEM216 Q9P0N5 VAR_064031 p.Leu114Arg LP/P rs386833831 Meckel syndrome 2 (MKS2) [MIM:603194] TMEM216 Q9P0N5 VAR_068170 p.Leu89Phe LP/P rs780098806 Joubert syndrome 2 (JBTS2) [MIM:608091] TMEM218 A2RU14 VAR_086385 p.Gly9Val US - Joubert syndrome 39 (JBTS39) [MIM:619562] TMEM218 A2RU14 VAR_086387 p.Arg80Cys LP/P - Joubert syndrome 39 (JBTS39) [MIM:619562] TMEM218 A2RU14 VAR_086388 p.Arg80His LP/P - Joubert syndrome 39 (JBTS39) [MIM:619562] TMEM218 A2RU14 VAR_086402 p.Arg37Ser LP/P - Joubert syndrome 39 (JBTS39) [MIM:619562] TMEM222 Q9H0R3 VAR_086147 p.Gly72Ser LP/P - Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities (NEDMOSBA) [MIM:619470] TMEM222 Q9H0R3 VAR_086149 p.Val148Met US - Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities (NEDMOSBA) [MIM:619470] TMEM222 Q9H0R3 VAR_086150 p.Gly176Arg US - Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities (NEDMOSBA) [MIM:619470] TMEM223 A0PJW6 VAR_039357 p.Thr28Ala LB/B rs2584918 - TMEM223 A0PJW6 VAR_039358 p.Val196Gly LB/B rs11827177 - TMEM225 Q6GV28 VAR_051260 p.Cys196Arg LB/B rs1939927 - TMEM225 Q6GV28 VAR_061690 p.Ser134Asn LB/B rs10893099 - TMEM230 Q96A57 VAR_076713 p.Tyr29Cys US rs1056737920 Parkinson disease (PARK) [MIM:168600] TMEM230 Q96A57 VAR_076714 p.Arg78Leu US rs764786986 Parkinson disease (PARK) [MIM:168600] TMEM230 Q96A57 VAR_076715 p.Arg108Cys LB/B rs143571424 - TMEM231 Q9H6L2 VAR_038543 p.Leu6Val LB/B rs3743601 - TMEM231 Q9H6L2 VAR_069044 p.Asp209Asn LP/P rs200799769 Joubert syndrome 20 (JBTS20) [MIM:614970] TMEM231 Q9H6L2 VAR_070456 p.Gln272Pro LP/P rs397514754 Meckel syndrome 11 (MKS11) [MIM:615397] TMEM237 Q96Q45 VAR_067019 p.Asp155Ala US - - TMEM240 Q5SV17 VAR_071906 p.Thr80Met LP/P rs606231454 Spinocerebellar ataxia 21 (SCA21) [MIM:607454] TMEM240 Q5SV17 VAR_071907 p.Arg116Cys LP/P rs606231453 Spinocerebellar ataxia 21 (SCA21) [MIM:607454] TMEM240 Q5SV17 VAR_071908 p.Glu149Lys LP/P rs546291208 Spinocerebellar ataxia 21 (SCA21) [MIM:607454] TMEM240 Q5SV17 VAR_071909 p.Pro170Leu LP/P rs606231451 Spinocerebellar ataxia 21 (SCA21) [MIM:607454] TMEM240 Q5SV17 VAR_071910 p.Arg171Trp LP/P rs606231455 Spinocerebellar ataxia 21 (SCA21) [MIM:607454] TMEM241 Q24JQ0 VAR_035406 p.Leu131Phe LB/B rs8099409 - TMEM244 Q5VVB8 VAR_026549 p.Phe80Leu LB/B rs4629709 - TMEM244 Q5VVB8 VAR_026550 p.Glu86Gly LB/B rs9492393 - TMEM244 Q5VVB8 VAR_026551 p.Phe111Val LB/B rs7776426 - TMEM244 Q5VVB8 VAR_033681 p.Asn60Ile LB/B rs7760577 - TMEM245 Q9H330 VAR_056815 p.Ala314Thr LB/B rs2271877 - TMEM245 Q9H330 VAR_056816 p.Thr787Ala LB/B rs3750455 - TMEM245 Q9H330 VAR_059604 p.Asp9Glu LB/B rs12001627 - TMEM25 Q86YD3 VAR_021391 p.Gln342Arg LB/B rs12289253 - TMEM25 Q86YD3 VAR_033623 p.Trp25Cys LB/B rs35915434 - TMEM255A Q5JRV8 VAR_029637 p.Pro345Gln LB/B rs17854410 - TMEM260 Q9NX78 VAR_057823 p.Ala245Ser LB/B rs17776256 - TMEM260 Q9NX78 VAR_057824 p.Ser565Asn LB/B rs1041316 - TMEM260 Q9NX78 VAR_088292 p.Cys98Tyr LP/P - Structural heart defects and renal anomalies syndrome (SHDRA) [MIM:617478] TMEM260 Q9NX78 VAR_088293 p.Arg115Lys US rs747632686 Structural heart defects and renal anomalies syndrome (SHDRA) [MIM:617478] TMEM260 Q9NX78 VAR_088294 p.Cys453Arg LP/P rs752523485 Structural heart defects and renal anomalies syndrome (SHDRA) [MIM:617478] TMEM260 Q9NX78 VAR_088296 p.Glu582Gln US - Structural heart defects and renal anomalies syndrome (SHDRA) [MIM:617478] TMEM266 Q2M3C6 VAR_026880 p.Arg391His LB/B rs937732 - TMEM266 Q2M3C6 VAR_026881 p.Pro427Leu LB/B rs937733 - TMEM270 Q6UE05 VAR_036813 p.Ile14Asn LB/B rs11770052 - TMEM270 Q6UE05 VAR_036814 p.Ala70Asp LB/B rs17852792 - TMEM270 Q6UE05 VAR_036815 p.Trp78Arg LB/B rs13227841 - TMEM270 Q6UE05 VAR_061720 p.Gly67Val LB/B rs56933025 - TMEM273 Q5T292 VAR_035409 p.Pro83Leu LB/B rs12257132 - TMEM38B Q9NVV0 VAR_032811 p.Cys254Ser LB/B rs35232724 - TMEM39A Q9NV64 VAR_030871 p.Ala487Thr LB/B rs1132200 - TMEM39A Q9NV64 VAR_036095 p.Ser247Leu US - A breast cancer sample TMEM41B Q5BJD5 VAR_084309 p.Ile266Leu US - - TMEM41B Q5BJD5 VAR_084310 p.Ile266Val US - - TMEM43 Q9BTV4 VAR_031751 p.Lys168Asn LB/B rs4685076 - TMEM43 Q9BTV4 VAR_031752 p.Met179Thr LB/B rs2340917 - TMEM43 Q9BTV4 VAR_031753 p.Tyr233Cys LB/B rs35924492 - TMEM43 Q9BTV4 VAR_031754 p.Ala318Val LB/B rs11924644 - TMEM43 Q9BTV4 VAR_044438 p.Ser358Leu LP/P rs63750743 Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5) [MIM:604400] TMEM43 Q9BTV4 VAR_069794 p.Glu85Lys LP/P rs397514044 Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302] TMEM43 Q9BTV4 VAR_069795 p.Ile91Val LP/P rs144811578 Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302] TMEM44 Q2T9K0 VAR_031775 p.His24Asn LB/B rs1675955 - TMEM44 Q2T9K0 VAR_066998 p.Arg232His LB/B rs12695036 - TMEM44 Q2T9K0 VAR_066999 p.Gln284Arg LB/B rs922282 - TMEM45B Q96B21 VAR_029866 p.Thr59Ile LB/B rs558813 - TMEM50A O95807 VAR_007851 p.Phe141Leu LB/B - - TMEM50A O95807 VAR_013121 p.Ala58Val LB/B rs3093647 - TMEM51 Q9NW97 VAR_051446 p.Val34Ala LB/B rs17405421 - TMEM51 Q9NW97 VAR_051447 p.Arg92Gln LB/B rs3766158 - TMEM52 Q8NDY8 VAR_031653 p.Met141Thr LB/B rs28640257 - TMEM52 Q8NDY8 VAR_051448 p.Met141Val LB/B rs4459050 - TMEM54 Q969K7 VAR_052342 p.Leu110Phe LB/B rs10914632 - TMEM59 Q9BXS4 VAR_063397 p.Ala46Val LB/B rs41294776 - TMEM60 Q9H2L4 VAR_051449 p.Val42Gly LB/B rs34580932 - TMEM61 Q8N0U2 VAR_028820 p.Glu40Lys LB/B rs3737832 - TMEM63A O94886 VAR_031191 p.Val622Met LB/B rs1009668 - TMEM63A O94886 VAR_061813 p.Phe121Ile LB/B rs57306966 - TMEM63A O94886 VAR_083043 p.Gly168Glu LP/P rs1576101665 Leukodystrophy, hypomyelinating, 19, transient infantile (HLD19) [MIM:618688] TMEM63A O94886 VAR_083044 p.Ile462Asn LP/P rs1576080546 Leukodystrophy, hypomyelinating, 19, transient infantile (HLD19) [MIM:618688] TMEM63A O94886 VAR_083045 p.Gly567Ser LP/P rs1576074651 Leukodystrophy, hypomyelinating, 19, transient infantile (HLD19) [MIM:618688] TMEM63B Q5T3F8 VAR_031192 p.Val307Met LB/B rs4714759 - TMEM63C Q9P1W3 VAR_031193 p.Met654Val LB/B rs2287384 - TMEM65 Q6PI78 VAR_060384 p.Ile97Val LB/B rs17854113 - TMEM67 Q5HYA8 VAR_025474 p.Gln376Pro LP/P rs137853106 Meckel syndrome 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_025475 p.Ile604Val LB/B rs3134031 - TMEM67 Q5HYA8 VAR_031987 p.Tyr513Cys LP/P rs137853107 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_031987 p.Tyr513Cys LP/P rs137853107 Joubert syndrome 6 (JBTS6) [MIM:610688] TMEM67 Q5HYA8 VAR_031987 p.Tyr513Cys LP/P rs137853107 Meckel syndrome 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_031988 p.Gly545Glu LP/P rs267607114 Joubert syndrome 6 (JBTS6) [MIM:610688] TMEM67 Q5HYA8 VAR_062310 p.Tyr54Cys US rs386834188 Meckel syndrome 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_062311 p.Gly218Ala LB/B rs202036490 - TMEM67 Q5HYA8 VAR_062312 p.Ser245Phe US rs386834206 Meckel syndrome 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_062313 p.Met252Thr LP/P rs202149403 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_062313 p.Met252Thr LP/P rs202149403 Joubert syndrome 6 (JBTS6) [MIM:610688] TMEM67 Q5HYA8 VAR_062313 p.Met252Thr LP/P rs202149403 Meckel syndrome 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_062314 p.Asp261Asn LB/B rs35793208 - TMEM67 Q5HYA8 VAR_062315 p.Trp296Cys US rs386834208 Meckel syndrome 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_062316 p.Ser320Cys LB/B rs111619594 - TMEM67 Q5HYA8 VAR_062317 p.Leu437Val LB/B rs35765535 - TMEM67 Q5HYA8 VAR_062318 p.Arg440Gln LP/P rs386834182 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_062318 p.Arg440Gln LP/P rs386834182 Meckel syndrome 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_062319 p.Cys615Arg LP/P rs201893408 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_062319 p.Cys615Arg LP/P rs201893408 Meckel syndrome 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_062319 p.Cys615Arg LP/P rs201893408 Nephronophthisis 11 (NPHP11) [MIM:613550] TMEM67 Q5HYA8 VAR_062320 p.Leu966Pro LP/P rs386834199 Meckel syndrome 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_063783 p.Pro82Arg US rs772437766 Joubert syndrome 6 (JBTS6) [MIM:610688] TMEM67 Q5HYA8 VAR_063784 p.Pro82Ser US rs762543032 Joubert syndrome 6 (JBTS6) [MIM:610688] TMEM67 Q5HYA8 VAR_063785 p.Lys99Asn US rs797046045 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063786 p.Pro130Arg LP/P rs863225226 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063787 p.Arg172Gln US rs750950408 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063788 p.Asn242Ser LP/P - COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063788 p.Asn242Ser LP/P - Joubert syndrome 6 (JBTS6) [MIM:610688] TMEM67 Q5HYA8 VAR_063789 p.Met257Val US rs863225227 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063790 p.Leu349Ser LP/P rs386834180 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063790 p.Leu349Ser LP/P rs386834180 Meckel syndrome 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_063791 p.Pro358Leu LP/P rs863225232 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063791 p.Pro358Leu LP/P rs863225232 Joubert syndrome 6 (JBTS6) [MIM:610688] TMEM67 Q5HYA8 VAR_063792 p.Thr372Lys LP/P rs863225235 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063793 p.Gln376Glu LP/P rs863225231 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063794 p.Arg441Cys US rs752362727 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063795 p.Pro485Ser US rs863225228 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063796 p.Phe590Ser LP/P rs267607115 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063797 p.Phe637Leu US rs863225225 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063798 p.Ser728Gly LP/P - COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063799 p.His782Arg LP/P rs777137476 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063800 p.Arg820Ser LP/P - COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063801 p.Ile833Thr LP/P rs267607119 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063801 p.Ile833Thr LP/P rs267607119 Joubert syndrome 6 (JBTS6) [MIM:610688] TMEM67 Q5HYA8 VAR_063802 p.Gln841Pro US rs863225234 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_063803 p.Phe942Cys US rs863225233 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_064185 p.Trp290Leu LP/P rs267607117 Nephronophthisis 11 (NPHP11) [MIM:613550] TMEM67 Q5HYA8 VAR_064186 p.Gly821Arg LP/P rs267607116 Nephronophthisis 11 (NPHP11) [MIM:613550] TMEM67 Q5HYA8 VAR_064187 p.Gly821Ser LP/P rs267607116 Nephronophthisis 11 (NPHP11) [MIM:613550] TMEM67 Q5HYA8 VAR_075699 p.Asp711Ala LP/P rs781383498 Joubert syndrome 6 (JBTS6) [MIM:610688] TMEM67 Q5HYA8 VAR_076871 p.Asn90Lys US - - TMEM67 Q5HYA8 VAR_076872 p.Glu124Lys LB/B rs375824494 - TMEM67 Q5HYA8 VAR_076873 p.Asp301Glu LB/B rs756906837 - TMEM67 Q5HYA8 VAR_076874 p.Arg441Leu LP/P rs386834183 Meckel syndrome 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_076875 p.Gly569Asp LB/B rs1017800436 - TMEM67 Q5HYA8 VAR_076876 p.Ala616Val LB/B rs757204749 - TMEM67 Q5HYA8 VAR_076877 p.Trp668Arg LP/P rs386834189 Meckel syndrome 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_076878 p.Leu739Arg US - - TMEM67 Q5HYA8 VAR_076879 p.Gly786Glu LP/P rs386834193 Meckel syndrome 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_076880 p.Tyr843Cys LP/P rs386834194 Meckel syndrome 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_079632 p.Gly132Ala LP/P rs1490496033 COACH syndrome 1 (COACH1) [MIM:216360] TMEM67 Q5HYA8 VAR_081743 p.Asp430Gly LP/P - RHYNS syndrome (RHYNS) [MIM:602152] TMEM67 Q5HYA8 VAR_087308 p.Asp359Glu US - - TMEM67 Q5HYA8 VAR_087309 p.Arg549Cys LP/P - Meckel syndrome 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_087310 p.Gly786Ala LP/P - Meckel syndrome 3 (MKS3) [MIM:607361] TMEM70 Q9BUB7 VAR_027686 p.Ala34Pro LB/B rs8075 - TMEM70 Q9BUB7 VAR_027687 p.Thr250Ala LB/B rs1053079 - TMEM70 Q9BUB7 VAR_027688 p.Asp259Glu LB/B rs1053077 - TMEM70 Q9BUB7 VAR_034565 p.Asn228Lys LB/B rs35564486 - TMEM70 Q9BUB7 VAR_068847 p.Thr210Pro LP/P - Mitochondrial complex V deficiency, nuclear type 2 (MC5DN2) [MIM:614052] TMEM74B Q9NUR3 VAR_033757 p.Leu33Met LB/B rs35393697 - TMEM79 Q9BSE2 VAR_028815 p.Val147Met LB/B rs6684514 - TMEM81 Q6P7N7 VAR_032353 p.Arg77Gln LB/B rs4951168 - TMEM81 Q6P7N7 VAR_032354 p.Phe100Ser LB/B rs16855059 - TMEM82 A0PJX8 VAR_036917 p.Arg284His LB/B rs11580250 - TMEM86A Q8N2M4 VAR_034564 p.Val215Ala LB/B rs7945285 - TMEM86B Q8N661 VAR_052343 p.Ala176Thr LB/B rs35608872 - TMEM86B Q8N661 VAR_052344 p.His199Arg LB/B rs4644955 - TMEM87B Q96K49 VAR_078997 p.Asn456Asp US rs369634007 - TMEM88 Q6PEY1 VAR_027702 p.Leu44Phe LB/B rs2270518 - TMEM89 A2RUT3 VAR_051450 p.Pro61Thr LB/B rs9834639 - TMEM92 Q6UXU6 VAR_027703 p.Ser90Thr LB/B rs6504642 - TMEM92 Q6UXU6 VAR_027704 p.Ser90Asn LB/B rs6504642 - TMEM92 Q6UXU6 VAR_061715 p.Ala4Thr LB/B rs9894445 - TMEM94 Q12767 VAR_019508 p.Ile1040Thr LB/B rs8073809 - TMEM98 Q9Y2Y6 VAR_051451 p.Trp83Arg LB/B rs35124349 - TMEM98 Q9Y2Y6 VAR_071807 p.Ala193Pro LP/P rs587777690 Nanophthalmos 4 (NNO4) [MIM:615972] TMEM98 Q9Y2Y6 VAR_081643 p.His196Pro LP/P rs869312733 Nanophthalmos 4 (NNO4) [MIM:615972] TMF1 P82094 VAR_024284 p.Asp798His LB/B rs1532918 - TMF1 P82094 VAR_051439 p.Gln430Glu LB/B rs35447207 - TMF1 P82094 VAR_051440 p.Cys448Tyr LB/B rs34428015 - TMF1 P82094 VAR_051441 p.Gln682Arg LB/B rs3736422 - TMIE Q8NEW7 VAR_021524 p.Arg81Cys LP/P rs28942096 Deafness, autosomal recessive, 6 (DFNB6) [MIM:600971] TMIE Q8NEW7 VAR_021525 p.Arg84Trp LP/P rs28942097 Deafness, autosomal recessive, 6 (DFNB6) [MIM:600971] TMIE Q8NEW7 VAR_021526 p.Arg92Trp LP/P rs28941781 Deafness, autosomal recessive, 6 (DFNB6) [MIM:600971] TMIGD2 Q96BF3 VAR_030469 p.Ala202Pro LB/B rs28477168 - TMIGD2 Q96BF3 VAR_061328 p.Trp168Leu LB/B rs58237134 - TMLHE Q9NVH6 VAR_076251 p.Asp244His LP/P rs869320708 Autism, X-linked 6 (AUTSX6) [MIM:300872] TMLHE Q9NVH6 VAR_076252 p.Glu369Asp US rs782001959 Autism, X-linked 6 (AUTSX6) [MIM:300872] TMOD2 Q9NZR1 VAR_052399 p.Pro63Ala LB/B rs34791185 - TMOD4 Q9NZQ9 VAR_052400 p.Asn336Ser LB/B rs11800088 - TMPO P42166 VAR_005635 p.Gln599Glu LB/B rs17459334 - TMPO P42166 VAR_049773 p.Leu238Arg LB/B rs35998138 - TMPO P42166 VAR_049774 p.Ser293Ala LB/B rs35645287 - TMPO P42166 VAR_049775 p.Thr317Ser LB/B rs35969221 - TMPO P42166 VAR_049776 p.Lys416Glu LB/B rs11838270 - TMPO P42166 VAR_049777 p.Lys478Asn LB/B rs35761089 - TMPO P42166 VAR_049778 p.Arg690Cys LB/B rs17028450 - TMPO P42167 VAR_014786 p.Leu427Phe LB/B rs1058288 - TMPO P42167 VAR_049779 p.Ala287Pro LB/B rs7133258 - TMPRSS11A Q6ZMR5 VAR_034797 p.Gln290Arg LB/B rs353163 - TMPRSS11B Q86T26 VAR_034798 p.Ile242Val LB/B rs12331141 - TMPRSS11B Q86T26 VAR_034799 p.Thr348Ser LB/B rs2319797 - TMPRSS11B Q86T26 VAR_047675 p.Asp325Ala LB/B rs2319796 - TMPRSS11E Q9UL52 VAR_051847 p.Tyr303Cys LB/B rs976002 - TMPRSS11F Q6ZWK6 VAR_034800 p.Ala4Thr LB/B rs10030708 - TMPRSS11F Q6ZWK6 VAR_046636 p.Asp124Asn LB/B rs1438391 - TMPRSS12 Q86WS5 VAR_051848 p.Tyr19His LB/B rs10876100 - TMPRSS12 Q86WS5 VAR_051849 p.Glu62Lys LB/B rs829121 - TMPRSS12 Q86WS5 VAR_051850 p.Ala127Thr LB/B rs861204 - TMPRSS12 Q86WS5 VAR_088098 p.His22Arg US - - TMPRSS12 Q86WS5 VAR_088099 p.Arg53Trp US rs771915335 - TMPRSS12 Q86WS5 VAR_088100 p.Ala88Ser US rs369846570 - TMPRSS12 Q86WS5 VAR_088101 p.Ala156Thr US rs368879346 - TMPRSS12 Q86WS5 VAR_088102 p.Gly212Arg US rs1257577798 - TMPRSS12 Q86WS5 VAR_088103 p.Arg332Cys US rs199914713 - TMPRSS15 P98073 VAR_020175 p.Glu641Lys LB/B rs2273204 - TMPRSS15 P98073 VAR_021940 p.Lys77Arg LB/B rs2824804 - TMPRSS15 P98073 VAR_024292 p.Asn660His LB/B rs11088674 - TMPRSS15 P98073 VAR_031686 p.Thr65Ile LB/B rs35987974 - TMPRSS15 P98073 VAR_031687 p.Glu134Gln LB/B rs2824790 - TMPRSS15 P98073 VAR_031688 p.Ser545Cys LB/B rs8134187 - TMPRSS15 P98073 VAR_031689 p.Pro732Ser LB/B rs2824721 - TMPRSS15 P98073 VAR_031690 p.Tyr828Cys LB/B rs8130110 - TMPRSS2 O15393 VAR_011692 p.Lys449Asn LB/B rs1056602 - TMPRSS2 O15393 VAR_027674 p.Val160Met LB/B rs12329760 - TMPRSS2 O15393 VAR_038002 p.Ser254Cys LB/B - - TMPRSS2 O15393 VAR_038003 p.Glu329Gln LB/B rs775137340 - TMPRSS2 O15393 VAR_038004 p.Asp491Asn LB/B rs779875214 - TMPRSS2 O15393 VAR_084538 p.Ala28Thr LB/B - - TMPRSS2 O15393 VAR_084539 p.Gly74Arg LB/B - - TMPRSS3 P57727 VAR_010781 p.Val53Ile LB/B rs928302 - TMPRSS3 P57727 VAR_011678 p.Trp251Cys LP/P rs137852999 Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072] TMPRSS3 P57727 VAR_011679 p.Pro404Leu LP/P rs28939084 Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072] TMPRSS3 P57727 VAR_013101 p.Ile253Val LB/B rs2839500 - TMPRSS3 P57727 VAR_013490 p.Asp103Gly LP/P rs387906915 Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072] TMPRSS3 P57727 VAR_013491 p.Arg109Trp LP/P rs201632198 Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072] TMPRSS3 P57727 VAR_013492 p.Gly111Ser LB/B rs35227181 - TMPRSS3 P57727 VAR_013493 p.Asp173Asn LB/B rs766000719 - TMPRSS3 P57727 VAR_013494 p.Cys194Phe LP/P rs1333651774 Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072] TMPRSS3 P57727 VAR_013495 p.Cys407Arg LP/P rs773780151 Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072] TMPRSS3 P57727 VAR_013496 p.Ala426Thr LP/P rs56264519 Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072] TMPRSS3 P57727 VAR_025354 p.Arg216Leu LP/P rs137853000 Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072] TMPRSS4 Q9NRS4 VAR_024293 p.Arg177Gln LB/B rs1894176 - TMPRSS4 Q9NRS4 VAR_046505 p.Lys198Glu LB/B rs12270001 - TMPRSS4 Q9NRS4 VAR_046506 p.Val208Gly LB/B rs1941635 - TMPRSS5 Q9H3S3 VAR_038005 p.Asp31Val US - - TMPRSS5 Q9H3S3 VAR_038006 p.Arg46Gln LB/B rs11601425 - TMPRSS5 Q9H3S3 VAR_038007 p.Val125Met LB/B rs7939917 - TMPRSS5 Q9H3S3 VAR_038008 p.Ala249Val LB/B rs1263487635 - TMPRSS5 Q9H3S3 VAR_038009 p.Ala317Ser US - - TMPRSS5 Q9H3S3 VAR_038010 p.Pro337Ser LB/B - - TMPRSS5 Q9H3S3 VAR_038011 p.Phe369Leu LB/B rs7110736 - TMPRSS6 Q8IU80 VAR_036296 p.Arg223His US rs749106338 A breast cancer sample TMPRSS6 Q8IU80 VAR_036297 p.Arg234Ser US - A breast cancer sample TMPRSS6 Q8IU80 VAR_044434 p.Glu262Lys LB/B rs2235324 - TMPRSS6 Q8IU80 VAR_044435 p.Gly442Arg LP/P rs137853119 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_044436 p.Asp521Asn LP/P rs137853120 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_044437 p.Arg774Cys LP/P rs776069764 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_051841 p.Lys253Glu LB/B rs2235324 - TMPRSS6 Q8IU80 VAR_051842 p.Ser288Leu LB/B rs5995378 - TMPRSS6 Q8IU80 VAR_051843 p.Val736Ala LB/B rs855791 - TMPRSS6 Q8IU80 VAR_051844 p.Gly763Asp LB/B rs11703011 - TMPRSS6 Q8IU80 VAR_064075 p.Tyr141Cys LP/P rs1430692214 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_064076 p.Ile212Thr LP/P rs776877803 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_064077 p.Arg271Gln LP/P rs776180387 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_064078 p.Ser304Leu LP/P rs1373272804 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_064079 p.Cys510Ser LP/P - Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_068665 p.Glu114Lys LP/P rs199474803 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_068666 p.Ala118Asp LP/P rs267607121 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_068667 p.Gly228Asp LB/B rs754848810 - TMPRSS6 Q8IU80 VAR_068668 p.Leu235Pro LP/P rs199474802 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_068669 p.Tyr418Cys LP/P rs199474804 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_068670 p.Arg446Trp LB/B rs117576908 - TMPRSS6 Q8IU80 VAR_068671 p.Glu522Lys LP/P rs387907018 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_068672 p.Gly603Arg LP/P rs769083817 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_068673 p.Leu674Phe LB/B - - TMPRSS6 Q8IU80 VAR_068674 p.Pro765Ala LP/P rs199474805 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_068675 p.Val795Ile LB/B rs139105452 - TMPRSS6 Q8IU80 VAR_072901 p.Trp247Cys LP/P - Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_072902 p.Thr287Asn LP/P rs1449962575 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_072903 p.Cys335Phe LP/P - Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_072904 p.Cys510Arg LP/P - Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_072905 p.Asp521Gly LP/P - Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_072906 p.Trp590Arg LP/P rs770897887 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_072907 p.Arg597Trp LP/P rs773272073 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_072908 p.Ala605Gly LP/P - Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_072909 p.Leu606Arg LP/P - Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_072910 p.Ser623Thr LP/P - Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS9 Q7Z410 VAR_021508 p.Ser30Thr LB/B rs891174 - TMPRSS9 Q7Z410 VAR_021509 p.Ser793Asn LB/B rs735911 - TMPRSS9 Q7Z410 VAR_021510 p.Glu938Lys LB/B rs7247162 - TMPRSS9 Q7Z410 VAR_033650 p.Arg73Trp LB/B rs17685098 - TMPRSS9 Q7Z410 VAR_051845 p.Thr4Ala LB/B rs8100709 - TMPRSS9 Q7Z410 VAR_051846 p.Ala456Thr LB/B rs10153474 - TMPRSS9 Q7Z410 VAR_061774 p.Ser659Thr LB/B rs60568869 - TMSB10 P63313 VAR_052304 p.Met7Arg LB/B rs1804515 - TMT1A Q9H8H3 VAR_050296 p.Ala134Thr LB/B rs28372674 - TMTC1 Q8IUR5 VAR_031112 p.Val814Leu LB/B rs17854190 - TMTC2 Q8N394 VAR_031113 p.Ala315Thr LB/B rs1201791 - TMTC2 Q8N394 VAR_031114 p.Tyr443Ser LB/B rs17010106 - TMTC2 Q8N394 VAR_053852 p.Asp741Tyr LB/B rs428398 - TMTC3 Q6ZXV5 VAR_077900 p.His67Asp LP/P - Lissencephaly 8 (LIS8) [MIM:617255] TMTC3 Q6ZXV5 VAR_077901 p.Gly384Glu LP/P - Lissencephaly 8 (LIS8) [MIM:617255] TMTC4 Q5T4D3 VAR_031117 p.Val286Met LB/B rs3809371 - TMTC4 Q5T4D3 VAR_031118 p.Val419Ile LB/B rs946837 - TMTC4 Q5T4D3 VAR_036455 p.Met655Val US rs144940475 A breast cancer sample TMUB2 Q71RG4 VAR_052695 p.Arg228His LB/B rs9895154 - TMX2 Q9Y320 VAR_083593 p.Arg53Cys LP/P rs145634348 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) [MIM:618730] TMX2 Q9Y320 VAR_083594 p.Asp55Ala US rs1398376742 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) [MIM:618730] TMX2 Q9Y320 VAR_083595 p.Gly56Arg US rs367990143 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) [MIM:618730] TMX2 Q9Y320 VAR_083596 p.Asp62His US - Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) [MIM:618730] TMX2 Q9Y320 VAR_083597 p.Asp109Gly US rs750470937 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) [MIM:618730] TMX2 Q9Y320 VAR_083598 p.Ile117Val US rs748116606 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) [MIM:618730] TMX2 Q9Y320 VAR_083599 p.Ala178Thr US - Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) [MIM:618730] TMX2 Q9Y320 VAR_083600 p.Arg205Gln LP/P rs370455806 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) [MIM:618730] TMX2 Q9Y320 VAR_083601 p.Arg231Trp LP/P rs759161110 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) [MIM:618730] TMX3 Q96JJ7 VAR_022451 p.Pro61Ser LB/B rs11557684 - TMX3 Q96JJ7 VAR_088490 p.Arg39Gln US - - TMX3 Q96JJ7 VAR_088491 p.Asp108Asn LB/B - - TMX4 Q9H1E5 VAR_052578 p.Tyr215Cys LB/B rs1135711 - TMX4 Q9H1E5 VAR_052579 p.Gly303Arg LB/B rs2076015 - TNC P24821 VAR_014665 p.Glu2008Gln LB/B rs13321 - TNC P24821 VAR_020169 p.Ala1781Thr LB/B rs2274750 - TNC P24821 VAR_024266 p.Gln539Arg LB/B rs1757095 - TNC P24821 VAR_024267 p.Val605Ile LB/B rs3827816 - TNC P24821 VAR_024268 p.Gln680Arg LB/B rs1061494 - TNC P24821 VAR_055778 p.Gly213Ser LB/B rs7020958 - TNC P24821 VAR_055779 p.Asp850His LB/B rs3748169 - TNC P24821 VAR_060738 p.Ile1677Leu LB/B rs2104772 - TNC P24821 VAR_070984 p.Val1773Met LP/P rs137933052 Deafness, autosomal dominant, 56 (DFNA56) [MIM:615629] TNC P24821 VAR_070985 p.Thr1796Ser LP/P rs431905513 Deafness, autosomal dominant, 56 (DFNA56) [MIM:615629] TNF P01375 VAR_011927 p.Ala94Thr LB/B rs1800620 - TNF P01375 VAR_019378 p.Pro84Leu LB/B rs4645843 - TNFAIP2 Q03169 VAR_020772 p.Gln282Glu LB/B rs1132339 - TNFAIP2 Q03169 VAR_020773 p.Thr565Ile LB/B rs2229727 - TNFAIP2 Q03169 VAR_020774 p.Thr580Met LB/B rs2234146 - TNFAIP3 P21580 VAR_020447 p.Ala125Val LB/B rs5029941 - TNFAIP3 P21580 VAR_022143 p.Phe127Cys LB/B rs2230926 - TNFAIP3 P21580 VAR_029319 p.Ala766Pro LB/B rs5029957 - TNFAIP3 P21580 VAR_076302 p.Cys243Tyr LP/P - Autoinflammatory syndrome, familial, Behcet-like 1 (AIFBL1) [MIM:616744] TNFAIP6 P98066 VAR_013005 p.Gln144Arg LB/B rs1046668 - TNFAIP8 O95379 VAR_032047 p.Ser151Cys LB/B rs3203922 - TNFAIP8L1 Q8WVP5 VAR_032048 p.Ala118Val LB/B rs17851549 - TNFAIP8L3 Q5GJ75 VAR_042860 p.Ala38Thr LB/B rs17647084 - TNFRSF10A O00220 VAR_016149 p.Thr33Ile LB/B rs20577 - TNFRSF10A O00220 VAR_016150 p.His141Arg LB/B rs17620 - TNFRSF10A O00220 VAR_016151 p.Arg209Thr LB/B rs20575 - TNFRSF10A O00220 VAR_016152 p.Glu228Ala LB/B rs20576 - TNFRSF10A O00220 VAR_052349 p.Gly11Val LB/B rs34737614 - TNFRSF10A O00220 VAR_052350 p.Pro105Arg LB/B rs11986840 - TNFRSF10A O00220 VAR_052351 p.Asn297His LB/B rs17088980 - TNFRSF10A O00220 VAR_052352 p.Arg441Lys LB/B rs2230229 - TNFRSF10B O14763 VAR_016153 p.Pro32Leu LB/B rs1129424 - TNFRSF10B O14763 VAR_016154 p.Ala67Val LB/B rs1047266 - TNFRSF10B O14763 VAR_059831 p.Val191Ala LB/B rs13265018 - TNFRSF10C O14798 VAR_046534 p.Thr199Asn LB/B rs12550828 - TNFRSF10C O14798 VAR_046535 p.Ile229Thr LB/B rs9644063 - TNFRSF10D Q9UBN6 VAR_011417 p.Pro35Ser LB/B rs11135703 - TNFRSF10D Q9UBN6 VAR_011418 p.Leu310Ser LB/B rs1133782 - TNFRSF10D Q9UBN6 VAR_057288 p.Thr345Pro LB/B rs34622674 - TNFRSF10D Q9UBN6 VAR_061854 p.Arg276His LB/B rs55636833 - TNFRSF11A Q9Y6Q6 VAR_011518 p.Ala192Val LB/B rs1805034 - TNFRSF11A Q9Y6Q6 VAR_046788 p.Gly53Arg LP/P rs121908659 Osteopetrosis, autosomal recessive 7 (OPTB7) [MIM:612301] TNFRSF11A Q9Y6Q6 VAR_046789 p.Arg129Cys LP/P rs121908657 Osteopetrosis, autosomal recessive 7 (OPTB7) [MIM:612301] TNFRSF11A Q9Y6Q6 VAR_046790 p.His141Tyr LB/B rs35211496 - TNFRSF11A Q9Y6Q6 VAR_046791 p.Arg170Gly LP/P rs121908655 Osteopetrosis, autosomal recessive 7 (OPTB7) [MIM:612301] TNFRSF11A Q9Y6Q6 VAR_046792 p.Cys175Arg LP/P rs121908656 Osteopetrosis, autosomal recessive 7 (OPTB7) [MIM:612301] TNFRSF11A Q9Y6Q6 VAR_046793 p.Ala244Ser LP/P rs121908658 Osteopetrosis, autosomal recessive 7 (OPTB7) [MIM:612301] TNFRSF11B O00300 VAR_013439 p.Asn3Lys LB/B rs2073618 - TNFRSF11B O00300 VAR_018957 p.Val104Met LB/B rs11573906 - TNFRSF13B O14836 VAR_024027 p.Cys104Arg LP/P rs34557412 Immunodeficiency, common variable, 2 (CVID2) [MIM:240500] TNFRSF13B O14836 VAR_024027 p.Cys104Arg LP/P rs34557412 Immunoglobulin A deficiency 2 (IGAD2) [MIM:609529] TNFRSF13B O14836 VAR_024028 p.Ala181Gly LP/P - Immunodeficiency, common variable, 2 (CVID2) [MIM:240500] TNFRSF13B O14836 VAR_024029 p.Arg202His LP/P rs104894649 Immunodeficiency, common variable, 2 (CVID2) [MIM:240500] TNFRSF13B O14836 VAR_052353 p.Pro251Leu LB/B rs34562254 - TNFRSF13B O14836 VAR_064758 p.His56Asn US - - TNFRSF13C Q96RJ3 VAR_063888 p.Gly64Val LB/B rs547352394 - TNFRSF13C Q96RJ3 VAR_063890 p.His159Tyr LB/B rs61756766 - TNFRSF14 Q92956 VAR_013007 p.Lys17Arg LB/B rs4870 - TNFRSF14 Q92956 VAR_013440 p.Val241Ile LB/B rs2234167 - TNFRSF14 Q92956 VAR_018955 p.Ala117Thr LB/B rs2234163 - TNFRSF14 Q92956 VAR_018956 p.Gly174Glu LB/B rs11573986 - TNFRSF17 Q02223 VAR_012234 p.Ala153Thr LB/B rs150352299 - TNFRSF17 Q02223 VAR_018755 p.Ala54Val LB/B rs11570146 - TNFRSF17 Q02223 VAR_018756 p.Ile65Val LB/B rs11570147 - TNFRSF17 Q02223 VAR_018757 p.Phe75Val LB/B rs11570148 - TNFRSF17 Q02223 VAR_018758 p.Asn81Ser LB/B rs373496 - TNFRSF17 Q02223 VAR_018759 p.Cys165Ser LB/B rs11570159 - TNFRSF17 Q02223 VAR_061855 p.Glu176Asp LB/B rs34546237 - TNFRSF18 Q9Y5U5 VAR_052354 p.Thr43Arg LB/B rs11466676 - TNFRSF18 Q9Y5U5 VAR_052355 p.Glu64Lys LB/B rs11466687 - TNFRSF18 Q9Y5U5 VAR_052356 p.Asp83Asn LB/B rs11466688 - TNFRSF18 Q9Y5U5 VAR_052357 p.Val173Met LB/B rs11466693 - TNFRSF19 Q9NS68 VAR_024278 p.Ser31Thr LB/B rs9550987 - TNFRSF19 Q9NS68 VAR_024279 p.Val405Ile LB/B rs3751362 - TNFRSF19 Q9NS68 VAR_070812 p.Ala159Val LB/B rs61756242 - TNFRSF1A P19438 VAR_011813 p.Pro305Thr LB/B rs1804532 - TNFRSF1A P19438 VAR_013410 p.Cys59Arg LP/P rs104895217 Periodic fever, familial, autosomal dominant (FPF) [MIM:142680] TNFRSF1A P19438 VAR_013411 p.Cys62Tyr LP/P rs104895218 Periodic fever, familial, autosomal dominant (FPF) [MIM:142680] TNFRSF1A P19438 VAR_013412 p.Thr79Met LP/P rs104895219 Periodic fever, familial, autosomal dominant (FPF) [MIM:142680] TNFRSF1A P19438 VAR_013413 p.Cys81Phe LP/P rs104895220 Periodic fever, familial, autosomal dominant (FPF) [MIM:142680] TNFRSF1A P19438 VAR_013414 p.Cys117Arg LP/P rs104895221 Periodic fever, familial, autosomal dominant (FPF) [MIM:142680] TNFRSF1A P19438 VAR_013415 p.Cys117Tyr LP/P rs104895222 Periodic fever, familial, autosomal dominant (FPF) [MIM:142680] TNFRSF1A P19438 VAR_019302 p.Cys59Ser LP/P rs104895223 Periodic fever, familial, autosomal dominant (FPF) [MIM:142680] TNFRSF1A P19438 VAR_019303 p.Cys62Gly LP/P rs104895225 Periodic fever, familial, autosomal dominant (FPF) [MIM:142680] TNFRSF1A P19438 VAR_019304 p.Cys99Ser LP/P rs104895228 Periodic fever, familial, autosomal dominant (FPF) [MIM:142680] TNFRSF1A P19438 VAR_019305 p.Arg121Pro LP/P rs4149584 Periodic fever, familial, autosomal dominant (FPF) [MIM:142680] TNFRSF1A P19438 VAR_019329 p.His51Gln LP/P rs104895254 Periodic fever, familial, autosomal dominant (FPF) [MIM:142680] TNFRSF1A P19438 VAR_019330 p.Pro75Leu LP/P rs4149637 Periodic fever, familial, autosomal dominant (FPF) [MIM:142680] TNFRSF1A P19438 VAR_019331 p.Ser115Gly LP/P - Periodic fever, familial, autosomal dominant (FPF) [MIM:142680] TNFRSF1A P19438 VAR_019332 p.Arg121Gln US rs4149584 Periodic fever, familial, autosomal dominant (FPF) [MIM:142680] TNFRSF1B P20333 VAR_015434 p.Met196Arg LB/B rs1061622 - TNFRSF1B P20333 VAR_015435 p.Glu232Lys LB/B rs5746026 - TNFRSF1B P20333 VAR_017176 p.Val187Met LB/B rs2228494 - TNFRSF1B P20333 VAR_017177 p.Ala236Thr LB/B rs5746027 - TNFRSF1B P20333 VAR_017178 p.Leu264Pro LB/B rs2229700 - TNFRSF1B P20333 VAR_017179 p.Thr269Pro LB/B rs17879042 - TNFRSF1B P20333 VAR_017180 p.Gln295Arg LB/B rs5746032 - TNFRSF1B P20333 VAR_017181 p.Pro301Arg LB/B rs17883432 - TNFRSF25 Q93038 VAR_011814 p.Arg370Leu LB/B rs1064590 - TNFRSF25 Q93038 VAR_011815 p.Arg381His LB/B rs1059333 - TNFRSF25 Q93038 VAR_018826 p.Arg23Gln LB/B rs35771371 - TNFRSF25 Q93038 VAR_018827 p.Asp159Gly LB/B rs11800462 - TNFRSF25 Q93038 VAR_018828 p.Pro254Arg LB/B rs34529016 - TNFRSF4 P43489 VAR_025164 p.Arg10Cys LB/B rs35304565 - TNFRSF4 P43489 VAR_070942 p.Arg65Cys LP/P rs587777075 Immunodeficiency 16 (IMD16) [MIM:615593] TNFRSF8 P28908 VAR_018753 p.Cys273Tyr LB/B rs2230624 - TNFRSF8 P28908 VAR_018754 p.Ser402Gly LB/B rs2230625 - TNFRSF8 P28908 VAR_054213 p.Cys273Phe LB/B rs2230624 - TNFRSF8 P28908 VAR_055257 p.Cys297Arg LB/B rs1763642 - TNFRSF8 P28908 VAR_055258 p.Pro314Ser LB/B rs2275170 - TNFRSF8 P28908 VAR_055259 p.Gln466Arg LB/B rs35511003 - TNFRSF9 Q07011 VAR_018920 p.Ala56Thr LB/B rs9657963 - TNFRSF9 Q07011 VAR_018921 p.Lys115Asn LB/B rs9657965 - TNFRSF9 Q07011 VAR_018922 p.Ala176Asp LB/B rs9657979 - TNFRSF9 Q07011 VAR_035478 p.Glu250Gly US rs776878260 A colorectal cancer sample TNFRSF9 Q07011 VAR_088225 p.Gly109Ser US - Immunodeficiency 109 with lymphoproliferation (IMD109) [MIM:620282] TNFSF10 P50591 VAR_052584 p.Val33Ile LB/B rs6763816 - TNFSF10 P50591 VAR_052585 p.Asp47Glu LB/B rs16845759 - TNFSF11 O14788 VAR_037424 p.Met199Lys LP/P rs121909072 Osteopetrosis, autosomal recessive 2 (OPTB2) [MIM:259710] TNFSF13 O75888 VAR_052586 p.Gly67Arg LB/B rs11552708 - TNFSF13 O75888 VAR_052587 p.Asn96Ser LB/B rs3803800 - TNFSF13B Q9Y275 VAR_013483 p.Ala105Thr LB/B rs201543678 - TNFSF14 O43557 VAR_027677 p.Ser32Leu LB/B rs2291667 - TNFSF14 O43557 VAR_027678 p.Leu120Val LB/B rs17851606 - TNFSF14 O43557 VAR_027679 p.Lys214Glu LB/B rs344560 - TNFSF15 O95150 VAR_043130 p.Phe110Leu LB/B rs16931745 - TNFSF9 P41273 VAR_011928 p.Pro17Ala LB/B rs442511 - TNIK Q9UKE5 VAR_041231 p.Lys778Glu LB/B rs55778284 - TNIK Q9UKE5 VAR_041232 p.Gly910Glu LB/B rs35090763 - TNIK Q9UKE5 VAR_041233 p.Ala999Thr LB/B rs17857452 - TNIP1 Q15025 VAR_051453 p.Pro103Ser LB/B rs2303018 - TNIP1 Q15025 VAR_051454 p.Ala146Val LB/B rs2233289 - TNIP1 Q15025 VAR_051455 p.Pro151Ala LB/B rs2233290 - TNIP1 Q15025 VAR_051456 p.Arg233Gln LB/B rs2233292 - TNIP1 Q15025 VAR_051457 p.Ala260Val LB/B rs2233295 - TNIP1 Q15025 VAR_067965 p.Arg263Trp US rs117663772 Patients with gastrointestinal diffuse large cell lymphoma TNIP1 Q15025 VAR_067966 p.Thr286Met US rs185683917 Patients with gastrointestinal diffuse large cell lymphoma TNIP1 Q15025 VAR_067967 p.Ile374Thr US rs748495842 Patients with gastrointestinal diffuse large cell lymphoma TNIP1 Q15025 VAR_067968 p.Glu476Lys US - Patients with gastrointestinal diffuse large cell lymphoma TNIP2 Q8NFZ5 VAR_039463 p.Ala396Val LB/B rs2269495 - TNIP2 Q8NFZ5 VAR_067969 p.Gln249His LB/B rs116129895 - TNIP2 Q8NFZ5 VAR_067970 p.Glu255Lys LB/B rs116412781 - TNIP3 Q96KP6 VAR_057006 p.Lys99Glu LB/B rs10000692 - TNK1 Q13470 VAR_041863 p.Val278Ile LB/B rs55939858 - TNK1 Q13470 VAR_041864 p.Arg339Lys US - A lung adenocarcinoma sample TNK1 Q13470 VAR_041865 p.Thr514Lys LB/B rs55641092 - TNK1 Q13470 VAR_041866 p.Arg539Cys LB/B rs36046975 - TNK1 Q13470 VAR_041867 p.Ser546Cys LB/B rs56093628 - TNK1 Q13470 VAR_041868 p.Val598Met LB/B rs6503018 - TNK2 Q07912 VAR_032792 p.Arg34Leu US - A lung adenocarcinoma sample TNK2 Q07912 VAR_032793 p.Lys71Arg LB/B rs56036945 - TNK2 Q07912 VAR_032794 p.Arg99Gln US rs113498671 An ovarian mucinous carcinoma sample TNK2 Q07912 VAR_032795 p.Arg99Trp LB/B rs3747673 - TNK2 Q07912 VAR_032796 p.Thr152Met LB/B rs56161912 - TNK2 Q07912 VAR_032797 p.Glu346Lys US rs970946035 An ovarian endometrioid cancer sample TNK2 Q07912 VAR_032798 p.Met409Ile US - A gastric adenocarcinoma sample TNK2 Q07912 VAR_032799 p.Pro507Ser LB/B rs35759128 - TNK2 Q07912 VAR_032800 p.Pro725Leu LB/B rs56260729 - TNK2 Q07912 VAR_032801 p.Arg748Gln LB/B rs57872314 - TNK2 Q07912 VAR_032802 p.Arg1038His LB/B rs13433937 - TNK2 Q07912 VAR_057115 p.Pro802Leu LB/B rs3749333 - TNK2 Q07912 VAR_076966 p.Val638Met US rs201407161 - TNKS1BP1 Q9C0C2 VAR_028141 p.Thr322Ser LB/B rs4939134 - TNKS1BP1 Q9C0C2 VAR_032615 p.Ser714Asn LB/B rs34203865 - TNN Q9UQP3 VAR_024269 p.Pro930Leu LB/B rs2285215 - TNN Q9UQP3 VAR_033832 p.Asp289Asn LB/B rs16847812 - TNN Q9UQP3 VAR_033833 p.Thr499Met LB/B rs17374761 - TNN Q9UQP3 VAR_033834 p.Trp807Arg LB/B rs6696455 - TNN Q9UQP3 VAR_033835 p.Thr941Met LB/B rs10798333 - TNN Q9UQP3 VAR_049007 p.Arg79Gly LB/B rs2072032 - TNN Q9UQP3 VAR_049008 p.Arg440Ser LB/B rs6664276 - TNN Q9UQP3 VAR_049009 p.Asp1135Glu LB/B rs10158841 - TNN Q9UQP3 VAR_049010 p.Ala1156Val LB/B rs2072036 - TNN Q9UQP3 VAR_059275 p.Met859Val LB/B rs6694078 - TNNC1 P63316 VAR_019776 p.Leu29Gln LP/P rs267607123 Cardiomyopathy, familial hypertrophic, 13 (CMH13) [MIM:613243] TNNC1 P63316 VAR_043988 p.Gly159Asp LP/P rs104893823 Cardiomyopathy, dilated, 1Z (CMD1Z) [MIM:611879] TNNC1 P63316 VAR_063070 p.Ala8Val LP/P rs267607125 Cardiomyopathy, familial hypertrophic, 13 (CMH13) [MIM:613243] TNNC1 P63316 VAR_063071 p.Cys84Tyr LP/P rs267607126 Cardiomyopathy, familial hypertrophic, 13 (CMH13) [MIM:613243] TNNC1 P63316 VAR_063072 p.Glu134Asp LP/P rs397516847 Cardiomyopathy, familial hypertrophic, 13 (CMH13) [MIM:613243] TNNC1 P63316 VAR_063073 p.Asp145Glu LP/P rs267607124 Cardiomyopathy, familial hypertrophic, 13 (CMH13) [MIM:613243] TNNC2 P02585 VAR_087978 p.Asp34Tyr LP/P - Congenital myopathy 15 (CMYP15) [MIM:620161] TNNC2 P02585 VAR_087979 p.Met79Ile LP/P - Congenital myopathy 15 (CMYP15) [MIM:620161] TNNI1 P19237 VAR_052403 p.Arg67Trp LB/B rs2296695 - TNNI2 P48788 VAR_016087 p.Arg174Gln LP/P rs104894311 Arthrogryposis, distal, 2B1 (DA2B1) [MIM:601680] TNNI3 P19429 VAR_007603 p.Arg145Gly LP/P rs104894724 Cardiomyopathy, familial hypertrophic, 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_007604 p.Lys206Gln LP/P rs104894725 Cardiomyopathy, familial hypertrophic, 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_016078 p.Pro82Ser LB/B rs77615401 - TNNI3 P19429 VAR_016079 p.Leu144Gln LP/P rs121917760 Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] TNNI3 P19429 VAR_016080 p.Arg145Trp LP/P rs104894724 Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] TNNI3 P19429 VAR_016081 p.Ala171Thr LP/P rs121917761 Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] TNNI3 P19429 VAR_016082 p.Lys178Glu LP/P rs104894730 Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] TNNI3 P19429 VAR_016083 p.Asp190His LP/P - Cardiomyopathy, familial hypertrophic, 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_016083 p.Asp190His LP/P - Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] TNNI3 P19429 VAR_016084 p.Arg192His LP/P rs104894729 Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] TNNI3 P19429 VAR_016085 p.Asp196Asn LP/P rs104894727 Cardiomyopathy, familial hypertrophic, 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_019872 p.Arg141Gln LP/P rs397516347 Cardiomyopathy, familial hypertrophic, 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_019873 p.Ala157Val LP/P rs397516353 Cardiomyopathy, familial hypertrophic, 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_019874 p.Arg162Pro LP/P rs397516354 Cardiomyopathy, familial hypertrophic, 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_019876 p.Arg186Gln LP/P rs397516357 Cardiomyopathy, familial hypertrophic, 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_029453 p.Arg79Cys LB/B rs3729712 - TNNI3 P19429 VAR_029454 p.Ser166Phe LP/P rs727504242 Cardiomyopathy, familial hypertrophic, 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_042745 p.Arg162Gln LP/P rs397516354 Cardiomyopathy, familial hypertrophic, 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_042746 p.Arg204His LP/P rs727504275 Cardiomyopathy, familial hypertrophic, 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_043989 p.Ala2Val LP/P rs397516359 Cardiomyopathy, dilated, 2A (CMD2A) [MIM:611880] TNNI3 P19429 VAR_063548 p.Lys36Gln LP/P rs267607130 Cardiomyopathy, dilated, 1FF (CMD1FF) [MIM:613286] TNNI3 P19429 VAR_063549 p.Asn185Lys LP/P rs267607129 Cardiomyopathy, dilated, 1FF (CMD1FF) [MIM:613286] TNNI3 P19429 VAR_067264 p.Ala116Gly LP/P rs777177571 Cardiomyopathy, dilated, 1FF (CMD1FF) [MIM:613286] TNNI3K Q59H18 VAR_035639 p.Arg629Gly US - A colorectal cancer sample TNNI3K Q59H18 VAR_038821 p.Ala785Gly LB/B rs45578635 - TNNI3K Q59H18 VAR_038822 p.Asp833Tyr LB/B rs45614933 - TNNI3K Q59H18 VAR_041223 p.Asp151His LB/B rs34874695 - TNNI3K Q59H18 VAR_041224 p.Pro263Leu LB/B rs34521608 - TNNI3K Q59H18 VAR_041225 p.Phe309Leu LB/B - - TNNI3K Q59H18 VAR_041226 p.Ser430Leu US - A colorectal adenocarcinoma sample TNNI3K Q59H18 VAR_041227 p.Val510Leu LB/B rs34335537 - TNNI3K Q59H18 VAR_041228 p.Thr637Met LB/B rs2274260 - TNNI3K Q59H18 VAR_041229 p.Ile686Thr LB/B rs3737564 - TNNI3K Q59H18 VAR_041230 p.Met798Ile US rs201613442 A head & Neck squamous cell carcinoma sample TNNI3K Q59H18 VAR_072650 p.Gly526Asp LP/P rs606231469 Cardiac conduction disease with or without dilated cardiomyopathy (CCDD) [MIM:616117] TNNT1 P13805 VAR_088550 p.Asp65Ala US - Nemaline myopathy 5C, autosomal dominant (NEM5C) [MIM:620389] TNNT1 P13805 VAR_088551 p.Leu96Pro LP/P - Nemaline myopathy 5B, autosomal recessive, childhood-onset (NEM5B) [MIM:620386] TNNT1 P13805 VAR_088552 p.Glu104Val US - Nemaline myopathy 5C, autosomal dominant (NEM5C) [MIM:620389] TNNT1 P13805 VAR_088555 p.Ala242Pro LP/P - Nemaline myopathy 5B, autosomal recessive, childhood-onset (NEM5B) [MIM:620386] TNNT2 P45379 VAR_007605 p.Ile89Asn LP/P rs121964855 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_007606 p.Arg102Gln LP/P rs121964856 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_007607 p.Phe120Ile LP/P rs121964858 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_007609 p.Glu173Lys LP/P - Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_007610 p.Glu254Asp LP/P rs45466197 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_007611 p.Lys263Arg LB/B rs3730238 - TNNT2 P45379 VAR_007612 p.Arg288Cys LP/P rs121964857 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_007613 p.Arg288Pro LP/P rs397516484 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_009194 p.Arg104Leu LP/P rs397516457 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_013021 p.Arg139Lys LB/B rs2996496 - TNNT2 P45379 VAR_013022 p.Ser249Thr LB/B rs2996495 - TNNT2 P45379 VAR_016195 p.Arg102Leu LP/P rs121964856 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_016196 p.Arg102Trp LP/P rs397516456 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_016197 p.Ala114Val LP/P rs727504245 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_016198 p.Arg151Trp LP/P rs74315379 Cardiomyopathy, dilated, 1D (CMD1D) [MIM:601494] TNNT2 P45379 VAR_016199 p.Ser189Phe LP/P rs727504246 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_019877 p.Phe80Leu LP/P rs886039053 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_019878 p.Phe120Val LP/P rs121964858 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_019879 p.Asn281Ile LP/P rs863225119 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_019880 p.Arg296Cys LP/P rs367785431 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_029450 p.Arg140Lys LB/B rs2996496 - TNNT2 P45379 VAR_029451 p.Asn279Tyr LB/B rs4523540 - TNNT2 P45379 VAR_042747 p.Arg140Cys LP/P rs397516463 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_042748 p.Ile221Thr LB/B rs45520032 - TNNT2 P45379 VAR_043983 p.Arg141Trp LP/P rs74315380 Cardiomyopathy, dilated, 1D (CMD1D) [MIM:601494] TNNT2 P45379 VAR_043984 p.Arg215Leu LP/P rs121964860 Cardiomyopathy, dilated, 1D (CMD1D) [MIM:601494] TNNT2 P45379 VAR_057310 p.Ile231Thr LB/B rs45520032 - TNNT2 P45379 VAR_067259 p.Ala38Val LP/P rs200754249 Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] TNNT3 P45378 VAR_026453 p.Arg74His LP/P rs121434638 Arthrogryposis, distal, 2B2 (DA2B2) [MIM:618435] TNNT3 P45378 VAR_082280 p.Arg74Cys LP/P rs199474721 Arthrogryposis, distal, 2B2 (DA2B2) [MIM:618435] TNP2 Q05952 VAR_052157 p.Arg131Trp LB/B rs11640138 - TNPO2 O14787 VAR_069373 p.Trp370Cys LP/P - Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) [MIM:619556] TNPO2 O14787 VAR_086356 p.Gln28Arg LP/P - Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) [MIM:619556] TNPO2 O14787 VAR_086357 p.Gln32Arg LP/P - Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) [MIM:619556] TNPO2 O14787 VAR_086358 p.Pro61Arg LP/P - Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) [MIM:619556] TNPO2 O14787 VAR_086359 p.Lys118Asn LP/P - Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) [MIM:619556] TNPO2 O14787 VAR_086360 p.Asp156Asn LP/P - Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) [MIM:619556] TNPO2 O14787 VAR_086361 p.Trp370Arg LP/P - Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) [MIM:619556] TNPO2 O14787 VAR_086363 p.Pro514Leu LP/P - Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) [MIM:619556] TNPO2 O14787 VAR_086364 p.Ala546Val LP/P - Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) [MIM:619556] TNPO2 O14787 VAR_086365 p.Ser548Phe LP/P - Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) [MIM:619556] TNPO2 O14787 VAR_086367 p.Trp727Cys LP/P - Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) [MIM:619556] TNPO3 Q9Y5L0 VAR_071822 p.Arg818Pro LP/P rs587777431 Muscular dystrophy, limb-girdle, autosomal dominant 2 (LGMDD2) [MIM:608423] TNR Q92752 VAR_021479 p.Ile17Val LB/B rs859398 - TNR Q92752 VAR_021906 p.Ala128Ser LB/B rs2239819 - TNR Q92752 VAR_021907 p.Gly293Ser LB/B rs3752516 - TNR Q92752 VAR_030737 p.Arg643Lys LB/B rs859427 - TNR Q92752 VAR_055780 p.Ser302Asn LB/B rs35736986 - TNR Q92752 VAR_086585 p.Ala397Thr US - Neurodevelopmental disorder, non-progressive, with spasticity and transient opisthotonus (NEDSTO) [MIM:619653] TNR Q92752 VAR_086586 p.Asp532Asn US - Neurodevelopmental disorder, non-progressive, with spasticity and transient opisthotonus (NEDSTO) [MIM:619653] TNR Q92752 VAR_086588 p.Ser1119Arg US - Neurodevelopmental disorder, non-progressive, with spasticity and transient opisthotonus (NEDSTO) [MIM:619653] TNR Q92752 VAR_086589 p.Arg1192Trp LP/P - Neurodevelopmental disorder, non-progressive, with spasticity and transient opisthotonus (NEDSTO) [MIM:619653] TNRC18 O15417 VAR_042722 p.Ala1193Gly LB/B rs12671708 - TNRC6A Q8NDV7 VAR_057251 p.Asn185Lys LB/B rs11639856 - TNRC6A Q8NDV7 VAR_057252 p.Ala592Thr LB/B rs6497759 - TNRC6A Q8NDV7 VAR_057253 p.Pro788Ser LB/B rs3803716 - TNRC6A Q8NDV7 VAR_057254 p.Glu1268Lys LB/B rs2112782 - TNRC6B Q9UPQ9 VAR_051452 p.Ser517Cys LB/B rs17001767 - TNRC6B Q9UPQ9 VAR_085416 p.Val1357Gly US - Global developmental delay with speech and behavioral abnormalities (GDSBA) [MIM:619243] TNRC6C Q9HCJ0 VAR_052237 p.Pro1027Arg LB/B rs34293811 - TNS1 Q9HBL0 VAR_047066 p.Ile436Met LB/B rs11680854 - TNS1 Q9HBL0 VAR_047067 p.Arg591Cys LB/B rs3815849 - TNS1 Q9HBL0 VAR_047068 p.Thr653Ile LB/B rs3796033 - TNS1 Q9HBL0 VAR_047070 p.Trp1301Arg LB/B rs2571445 - TNS1 Q9HBL0 VAR_047071 p.Val1708Ile LB/B rs918949 - TNS1 Q9HBL0 VAR_048004 p.Phe1197Leu US - A breast cancer sample TNS2 Q63HR2 VAR_033043 p.Ser353Thr LB/B rs11170389 - TNS2 Q63HR2 VAR_052547 p.Ala670Thr LB/B rs11558984 - TNS3 Q68CZ2 VAR_034593 p.Gln600His LB/B rs2293362 - TNS3 Q68CZ2 VAR_034594 p.Gly679Ser LB/B rs7808646 - TNS3 Q68CZ2 VAR_052548 p.Glu1034Lys LB/B rs3807590 - TNS4 Q8IZW8 VAR_027264 p.Leu179Pro LB/B rs3764424 - TNS4 Q8IZW8 VAR_027265 p.Ser498Asn LB/B rs2290207 - TNS4 Q8IZW8 VAR_036515 p.Arg642Cys US rs148022611 A colorectal cancer sample TNS4 Q8IZW8 VAR_055292 p.Thr327Lys LB/B rs33923045 - TNXB P22105 VAR_020170 p.Pro2301His LB/B rs2269428 - TNXB P22105 VAR_020171 p.Gly2495Ser LB/B rs2269429 - TNXB P22105 VAR_020172 p.Gly2518Glu LB/B rs1009382 - TNXB P22105 VAR_021908 p.Arg511His LB/B rs204896 - TNXB P22105 VAR_024270 p.His1161Arg LB/B rs185819 - TNXB P22105 VAR_044347 p.Thr302Ala LB/B rs1150752 - TNXB P22105 VAR_046499 p.Arg29Trp LP/P rs368512272 Ehlers-Danlos syndrome, classic-like (EDSCLL) [MIM:606408] TNXB P22105 VAR_046500 p.Val1108Met LP/P rs121912575 Ehlers-Danlos syndrome, classic-like (EDSCLL) [MIM:606408] TNXB P22105 VAR_046501 p.Leu3988Ile LB/B rs7742632 - TNXB P22105 VAR_055781 p.Gly641Cys LB/B rs17201609 - TNXB P22105 VAR_055782 p.Arg650His LB/B rs17201602 - TNXB P22105 VAR_055783 p.Ser873Ala LB/B rs204900 - TNXB P22105 VAR_055784 p.Pro2363His LB/B rs2269428 - TNXB P22105 VAR_059276 p.Glu1905Lys LB/B rs17207923 - TNXB P22105 VAR_059277 p.Pro2412Leu LB/B rs12524664 - TNXB P22105 VAR_072580 p.Thr1244Arg LP/P - Vesicoureteral reflux 8 (VUR8) [MIM:615963] TNXB P22105 VAR_072581 p.Val3212Ile LP/P rs1473257039 Vesicoureteral reflux 8 (VUR8) [MIM:615963] TNXB P22105 VAR_072582 p.Arg4074Cys LP/P rs587777682 Ehlers-Danlos syndrome, classic-like (EDSCLL) [MIM:606408] TOB1 P50616 VAR_037840 p.Lys319Arg LB/B rs3316 - TOE1 Q96GM8 VAR_048752 p.Arg341His LB/B rs9429157 - TOE1 Q96GM8 VAR_061109 p.Glu381Lys LB/B rs61323219 - TOE1 Q96GM8 VAR_078809 p.Glu220Lys LP/P rs1570621473 Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969] TOE1 Q96GM8 VAR_078850 p.Arg73Ser LP/P rs774056037 Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969] TOE1 Q96GM8 VAR_078851 p.Ala103Thr LP/P rs371848318 Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969] TOE1 Q96GM8 VAR_078852 p.Phe148Tyr LP/P rs148067486 Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969] TOE1 Q96GM8 VAR_078853 p.Val173Gly LP/P rs777030573 Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969] TOE1 Q96GM8 VAR_078855 p.Phe239Ser LP/P rs778263701 Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969] TOE1 Q96GM8 VAR_078856 p.Arg253Trp LP/P rs368182654 Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969] TOE1 Q96GM8 VAR_078857 p.His319Gln LP/P rs758153898 Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969] TOE1 Q96GM8 VAR_078858 p.His319Tyr LP/P rs750266350 Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969] TOE1 Q96GM8 VAR_078859 p.Ser496Phe LP/P rs1570626350 Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969] TOGARAM1 Q9Y4F4 VAR_027739 p.Glu416Gln LB/B rs3825629 - TOGARAM1 Q9Y4F4 VAR_027740 p.Leu511Val LB/B rs3742591 - TOGARAM1 Q9Y4F4 VAR_085346 p.Arg368Trp LP/P - Joubert syndrome 37 (JBTS37) [MIM:619185] TOGARAM1 Q9Y4F4 VAR_085347 p.Ala371Asp US rs370676288 Joubert syndrome 37 (JBTS37) [MIM:619185] TOGARAM1 Q9Y4F4 VAR_085348 p.Leu375Pro LP/P rs150433582 Joubert syndrome 37 (JBTS37) [MIM:619185] TOGARAM1 Q9Y4F4 VAR_085351 p.Arg1311Cys LP/P rs759684383 Joubert syndrome 37 (JBTS37) [MIM:619185] TOGARAM2 Q6ZUX3 VAR_054091 p.Ala55Thr LB/B rs13009279 - TOGARAM2 Q6ZUX3 VAR_054092 p.Gln265Arg LB/B rs12623297 - TOGARAM2 Q6ZUX3 VAR_054093 p.Gln362Arg LB/B rs11127202 - TOGARAM2 Q6ZUX3 VAR_054094 p.Ile441Val LB/B rs1109758 - TOGARAM2 Q6ZUX3 VAR_054095 p.Val535Ala LB/B rs6721861 - TOGARAM2 Q6ZUX3 VAR_054096 p.Thr941Ala LB/B rs895591 - TOGARAM2 Q6ZUX3 VAR_054097 p.Gly944Val LB/B rs7577483 - TOGARAM2 Q6ZUX3 VAR_062242 p.Arg724Cys LB/B rs60403047 - TOLLIP Q9H0E2 VAR_034557 p.Ala222Ser LB/B rs5744015 - TOLLIP Q9H0E2 VAR_079499 p.Asp161Asn LB/B rs1037270334 - TOM1 O60784 VAR_034567 p.Met264Val LB/B rs34371697 - TOM1 O60784 VAR_053845 p.Arg84His LB/B rs11558473 - TOM1 O60784 VAR_086655 p.Gly307Asp LP/P - Immunodeficiency 85 (IMD85) [MIM:619510] TOM1L1 O75674 VAR_047469 p.Arg108Ser LB/B rs16955377 - TOMM20 Q15388 VAR_052366 p.Pro117Leu LB/B rs16991984 - TOMM20 Q15388 VAR_052367 p.Val134Leu LB/B rs778955929 - TOMM34 Q15785 VAR_059860 p.Arg293Lys LB/B rs6094061 - TOMM40L Q969M1 VAR_035815 p.Asp100Asn US - A colorectal cancer sample TOMT Q8WZ04 VAR_047554 p.Leu16Pro US rs891068154 Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451] TOMT Q8WZ04 VAR_047555 p.Arg158His US rs758115449 Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451] TOMT Q8WZ04 VAR_047556 p.Arg208Gln LB/B rs61741195 - TOMT Q8WZ04 VAR_054955 p.Arg81Gln LP/P rs137853185 Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451] TOMT Q8WZ04 VAR_054956 p.Trp105Arg LP/P rs137853186 Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451] TOMT Q8WZ04 VAR_054957 p.Glu110Lys LP/P rs137853187 Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451] TOMT Q8WZ04 VAR_079506 p.Arg52Trp US rs1372399805 Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451] TONSL Q96HA7 VAR_042411 p.Val488Met LB/B rs2229314 - TONSL Q96HA7 VAR_042412 p.Gly493Ser LB/B rs2229315 - TONSL Q96HA7 VAR_042413 p.Ala714Val LB/B rs7830832 - TONSL Q96HA7 VAR_042414 p.Pro1276Leu LB/B rs4925856 - TONSL Q96HA7 VAR_083007 p.Arg42His US rs778155094 Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510] TONSL Q96HA7 VAR_083010 p.Ser174Asn LP/P - Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510] TONSL Q96HA7 VAR_083011 p.Glu199Lys LP/P rs1335783881 Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510] TONSL Q96HA7 VAR_083012 p.Asp364His US - Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510] TONSL Q96HA7 VAR_083013 p.Glu487Lys US rs563710728 Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510] TONSL Q96HA7 VAR_083014 p.Glu494Lys US rs775551492 Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510] TONSL Q96HA7 VAR_083016 p.Glu539Lys LP/P rs370196996 Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510] TONSL Q96HA7 VAR_083017 p.Arg558Gln LP/P rs777654833 Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510] TONSL Q96HA7 VAR_083018 p.Val613Leu US rs778625348 Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510] TONSL Q96HA7 VAR_083019 p.Thr653Met LP/P rs755055463 Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510] TONSL Q96HA7 VAR_083022 p.Arg934Trp LP/P rs755575416 Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510] TONSL Q96HA7 VAR_083024 p.Gly973Arg LP/P rs1342198195 Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510] TONSL Q96HA7 VAR_083025 p.Ser1197Pro LP/P rs1586681982 Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510] TONSL Q96HA7 VAR_083026 p.Glu1288Gln US rs1554878402 Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510] TONSL Q96HA7 VAR_086303 p.Gln430Arg US rs776042221 Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510] TONSL Q96HA7 VAR_086304 p.Leu1090Arg US rs137933176 Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510] TOP1 P11387 VAR_007530 p.Asp533Gly US rs267607131 CPT-resistant leukemia TOP1 P11387 VAR_007531 p.Thr729Ala US - CPT-resistant lung cancer TOP1 P11387 VAR_010666 p.Met370Thr US - CPT-resistant leukemia TOP1 P11387 VAR_010667 p.Asn722Ser US - CPT-resistant leukemia TOP1 P11387 VAR_036555 p.Lys326Arg US - Breast cancer TOP1 P11387 VAR_052592 p.Gly214Ser LB/B rs6029542 - TOP1MT Q969P6 VAR_021863 p.Arg525Trp LB/B rs2293925 - TOP1MT Q969P6 VAR_052593 p.Val256Ile LB/B rs11544484 - TOP2A P11388 VAR_007532 p.Arg450Gln LB/B rs746765101 - TOP2A P11388 VAR_007533 p.Arg487Lys LB/B rs267607133 - TOP2A P11388 VAR_029245 p.Thr1324Lys LB/B rs28969502 - TOP2A P11388 VAR_052594 p.Gly1386Asp LB/B rs34300454 - TOP2A P11388 VAR_052595 p.Ala1515Ser LB/B rs11540720 - TOP2B Q02880 VAR_079273 p.His63Tyr LB/B rs886039770 - TOP2B Q02880 VAR_086569 p.Ser488Leu LP/P - B-cell immunodeficiency, distal limb anomalies, and urogenital malformations (BILU) [MIM:609296] TOP2B Q02880 VAR_086570 p.Ala490Pro LP/P - B-cell immunodeficiency, distal limb anomalies, and urogenital malformations (BILU) [MIM:609296] TOP2B Q02880 VAR_086572 p.Gly638Ser LP/P - B-cell immunodeficiency, distal limb anomalies, and urogenital malformations (BILU) [MIM:609296] TOP3A Q13472 VAR_007529 p.Cys596Tyr LB/B - - TOP3A Q13472 VAR_052588 p.Asp459Asn LB/B rs28671051 - TOP3A Q13472 VAR_052589 p.Asp742Asn LB/B rs9909732 - TOP3A Q13472 VAR_052590 p.Asn773Asp LB/B rs9911283 - TOP3A Q13472 VAR_081105 p.Met100Val LP/P rs376902371 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 (PEOB5) [MIM:618098] TOP3A Q13472 VAR_081107 p.Ala176Val LP/P - Microcephaly, growth restriction, and increased sister chromatid exchange 2 (MGRISCE2) [MIM:618097] TOP3B O95985 VAR_052591 p.Asp365Asn LB/B rs9610728 - TOP6BL Q8N6T0 VAR_082606 p.Ser336Pro US - Hydatidiform mole, recurrent, 4 (HYDM4) [MIM:618432] TOPAZ1 Q8N9V7 VAR_039224 p.Cys43Arg LB/B rs9833423 - TOPAZ1 Q8N9V7 VAR_039225 p.Pro88Gln LB/B rs7645375 - TOPAZ1 Q8N9V7 VAR_039226 p.Val196Ile LB/B rs9284879 - TOPAZ1 Q8N9V7 VAR_039227 p.Gln483Arg LB/B rs17076541 - TOPAZ1 Q8N9V7 VAR_039228 p.Pro673Ala LB/B rs17646517 - TOPAZ1 Q8N9V7 VAR_039229 p.Lys796Glu LB/B rs17076545 - TOPAZ1 Q8N9V7 VAR_039230 p.Gln1352Arg LB/B rs11921568 - TOPBP1 Q92547 VAR_057007 p.Asn955Ser LB/B rs10935070 - TOPBP1 Q92547 VAR_059733 p.Ser817Leu LB/B rs17301766 - TOPBP1 Q92547 VAR_059734 p.Asn1042Ser LB/B rs10935070 - TOPORS Q9NS56 VAR_037629 p.Ala154Thr LB/B rs17855104 - TOPORS Q9NS56 VAR_037630 p.Glu517Lys LB/B rs17855103 - TOPORS Q9NS56 VAR_037631 p.Asn749Asp LB/B rs17857515 - TOPORS Q9NS56 VAR_037632 p.Pro812Arg LB/B rs36034138 - TOR1A O14656 VAR_010788 p.Asp264His LB/B - - TOR1A O14656 VAR_020449 p.Asp216His LB/B rs1801968 - TOR1A O14656 VAR_070932 p.Phe205Ile LP/P rs267607134 Dystonia 1, torsion, autosomal dominant (DYT1) [MIM:128100] TOR1A O14656 VAR_070933 p.Arg288Gln LP/P rs727502811 Dystonia 1, torsion, autosomal dominant (DYT1) [MIM:128100] TOR1A O14656 VAR_084706 p.Gly318Ser LP/P rs2030965698 Arthrogryposis multiplex congenita 5 (AMC5) [MIM:618947] TOR1AIP1 Q5JTV8 VAR_025717 p.Met146Thr LB/B rs1281378 - TOR1AIP1 Q5JTV8 VAR_025718 p.Pro276Arg LB/B rs609521 - TOR1AIP1 Q5JTV8 VAR_034566 p.Gln293His LB/B rs17279712 - TOR1AIP1 Q5JTV8 VAR_035818 p.Val190Ile US rs775134055 A breast cancer sample TOR1B O14657 VAR_059220 p.Ala54Thr LB/B rs10988518 - TOR2A Q5JU69 VAR_055661 p.Lys203Glu LB/B rs538066 - TOR3A Q9H497 VAR_025697 p.Phe13Leu LB/B rs2296377 - TOX O94900 VAR_064759 p.Ala267Thr US - - TOX2 Q96NM4 VAR_049560 p.Val223Ala LB/B rs6103584 - TOX3 O15405 VAR_055952 p.Val128Met LB/B rs16951186 - TOX3 O15405 VAR_055953 p.Gln572Pro LB/B rs13332816 - TP53 P04637 VAR_005851 p.Asp7His US rs587782646 A sporadic cancer TP53 P04637 VAR_005852 p.Leu35Phe US rs121912661 Sporadic cancers TP53 P04637 VAR_005853 p.Leu43Ser US - A sporadic cancer TP53 P04637 VAR_005854 p.Trp53Cys US - Sporadic cancers TP53 P04637 VAR_005855 p.Pro60Ser US - A sporadic cancer TP53 P04637 VAR_005856 p.Pro72Arg LB/B rs1042522 - TP53 P04637 VAR_005857 p.Ala79Thr US - A sporadic cancer TP53 P04637 VAR_005858 p.Pro87Gln US - Sporadic cancers TP53 P04637 VAR_005859 p.Ser94Thr US - Sporadic cancers TP53 P04637 VAR_005860 p.Arg110Cys US rs587781371 Sporadic cancers TP53 P04637 VAR_005861 p.Arg110Leu US rs11540654 A familial cancer not matching LFS TP53 P04637 VAR_005862 p.Arg110Pro US rs11540654 Sporadic cancers TP53 P04637 VAR_005863 p.Phe113Cys US - Sporadic cancers TP53 P04637 VAR_005864 p.Thr125Met US rs786201057 Sporadic cancers TP53 P04637 VAR_005865 p.Tyr126Asp US rs886039483 Sporadic cancers TP53 P04637 VAR_005866 p.Tyr126Asn US rs886039483 Sporadic cancers TP53 P04637 VAR_005867 p.Ser127Phe US rs730881999 Sporadic cancers TP53 P04637 VAR_005868 p.Pro128Ser US - Sporadic cancers TP53 P04637 VAR_005869 p.Ala129Asp US - Sporadic cancers TP53 P04637 VAR_005870 p.Leu130Arg US - Sporadic cancers TP53 P04637 VAR_005871 p.Asn131Ser US - Sporadic cancers TP53 P04637 VAR_005872 p.Asn131Lys US rs769270327 Sporadic cancers TP53 P04637 VAR_005873 p.Lys132Met US rs1057519996 Sporadic cancers TP53 P04637 VAR_005874 p.Lys132Gln US rs747342068 Sporadic cancers TP53 P04637 VAR_005875 p.Met133Thr LP/P rs28934873 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005876 p.Cys135Ser US rs1057519975 Sporadic cancers TP53 P04637 VAR_005877 p.Cys135Phe US rs587781991 Sporadic cancers TP53 P04637 VAR_005878 p.Gln136Glu US rs1555526268 Sporadic cancers TP53 P04637 VAR_005879 p.Gln136Lys US - A sporadic cancer TP53 P04637 VAR_005880 p.Leu137Gln US - Sporadic cancers TP53 P04637 VAR_005881 p.Ala138Pro LP/P rs28934875 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005882 p.Lys139Asn US - Sporadic cancers TP53 P04637 VAR_005884 p.Cys141Gly US rs1057519978 Sporadic cancers TP53 P04637 VAR_005885 p.Cys141Phe US rs587781288 Sporadic cancers TP53 P04637 VAR_005886 p.Cys141Tyr LP/P rs587781288 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005887 p.Val143Ala US - Sporadic cancers TP53 P04637 VAR_005888 p.Gln144Pro US rs786203071 Sporadic cancers TP53 P04637 VAR_005889 p.Leu145Pro US rs587782197 Sporadic cancers TP53 P04637 VAR_005890 p.Leu145Gln US - Sporadic cancers TP53 P04637 VAR_005891 p.Val147Asp US - Sporadic cancers TP53 P04637 VAR_005892 p.Val147Gly US rs1453167097 Sporadic cancers TP53 P04637 VAR_005893 p.Ser149Pro US - Sporadic cancers TP53 P04637 VAR_005894 p.Pro151Ala US rs28934874 Sporadic cancers TP53 P04637 VAR_005895 p.Pro151Ser LP/P rs28934874 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005896 p.Pro151Thr LP/P rs28934874 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005897 p.Pro152Leu LP/P rs587782705 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005898 p.Pro152Ser US rs767328513 Sporadic cancers TP53 P04637 VAR_005899 p.Pro153Thr US - Sporadic cancers TP53 P04637 VAR_005900 p.Gly154Val US rs762846821 A brain tumor with no family history TP53 P04637 VAR_005901 p.Thr155Ala US rs772683278 Sporadic cancers TP53 P04637 VAR_005902 p.Arg156Pro US - Sporadic cancers TP53 P04637 VAR_005903 p.Val157Asp US - Sporadic cancers TP53 P04637 VAR_005904 p.Val157Phe US rs121912654 Sporadic cancers TP53 P04637 VAR_005905 p.Arg158Cys US rs587780068 Sporadic cancers TP53 P04637 VAR_005906 p.Arg158Gly LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005907 p.Arg158His LP/P rs587782144 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005908 p.Met160Ile US rs772354334 Sporadic cancers TP53 P04637 VAR_005909 p.Ala161Ser US - Sporadic cancers TP53 P04637 VAR_005910 p.Ile162Ser US rs587780069 Sporadic cancers TP53 P04637 VAR_005911 p.Ile162Val US - Sporadic cancers TP53 P04637 VAR_005912 p.Tyr163His US rs786203436 Sporadic cancers TP53 P04637 VAR_005913 p.Lys164Asn US rs1131691034 Sporadic cancers TP53 P04637 VAR_005914 p.Lys164Gln US - Sporadic cancers TP53 P04637 VAR_005915 p.Gln165Leu US - Sporadic cancers TP53 P04637 VAR_005916 p.Gln165Arg US - Sporadic cancers TP53 P04637 VAR_005917 p.Ser166Leu US rs1555526101 Sporadic cancers TP53 P04637 VAR_005918 p.His168Arg US rs867114783 Sporadic cancers TP53 P04637 VAR_005919 p.Met169Ile US - Sporadic cancers TP53 P04637 VAR_005920 p.Met169Thr US - Sporadic cancers TP53 P04637 VAR_005921 p.Thr170Met US rs779000871 Sporadic cancers TP53 P04637 VAR_005922 p.Thr170Ser US - Sporadic cancers TP53 P04637 VAR_005923 p.Val172Ala US - Sporadic cancers TP53 P04637 VAR_005924 p.Val173Glu US rs1057519747 Sporadic cancers TP53 P04637 VAR_005925 p.Val173Leu US rs876660754 Sporadic cancers TP53 P04637 VAR_005926 p.Val173Met LP/P rs876660754 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005927 p.Arg174Lys US rs1064796681 Sporadic cancers TP53 P04637 VAR_005928 p.Arg175Cys US rs138729528 Sporadic cancers TP53 P04637 VAR_005929 p.Arg175Gly LP/P rs138729528 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005930 p.Arg175Leu LP/P rs28934578 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005931 p.Arg175Pro US - Sporadic cancers TP53 P04637 VAR_005932 p.Arg175His LP/P rs28934578 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005933 p.Cys176Phe US rs786202962 Sporadic cancers TP53 P04637 VAR_005934 p.Cys176Trp US rs1057519980 Sporadic cancers TP53 P04637 VAR_005935 p.Pro177Leu US rs751477326 Sporadic cancers TP53 P04637 VAR_005937 p.Arg181Leu US rs397514495 A familial cancer not matching LFS TP53 P04637 VAR_005938 p.Cys182Ser US - Sporadic cancers TP53 P04637 VAR_005939 p.Asp184Tyr US - Sporadic cancers TP53 P04637 VAR_005940 p.Asp186Tyr US - A sporadic cancer TP53 P04637 VAR_005941 p.Gly187Cys US - Sporadic cancers TP53 P04637 VAR_005942 p.Gly187Ser US rs776167460 Sporadic cancers TP53 P04637 VAR_005943 p.Ala189Pro US - Sporadic cancers TP53 P04637 VAR_005944 p.Pro190Leu US rs876660825 Sporadic cancers TP53 P04637 VAR_005945 p.Pro191Thr US - Sporadic cancers TP53 P04637 VAR_005946 p.Gln192Arg US rs730882002 Sporadic cancers TP53 P04637 VAR_005947 p.His193Asp US rs876658468 Sporadic cancers TP53 P04637 VAR_005948 p.His193Arg LP/P rs786201838 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005949 p.Leu194Pro US rs1057519998 Sporadic cancers TP53 P04637 VAR_005950 p.Leu194Arg US rs1057519998 Sporadic cancers TP53 P04637 VAR_005951 p.Ile195Thr US rs760043106 Sporadic cancers TP53 P04637 VAR_005952 p.Glu198Lys US - Sporadic cancers TP53 P04637 VAR_005953 p.Tyr205Cys US rs1057520007 Sporadic cancers TP53 P04637 VAR_005954 p.Tyr205Asp US rs1057520008 Sporadic cancers TP53 P04637 VAR_005955 p.Arg213Gln LP/P rs587778720 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005956 p.Val216Met US rs730882025 Sporadic cancers TP53 P04637 VAR_005957 p.Tyr220Cys LP/P rs121912666 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005958 p.Tyr220His US rs530941076 Sporadic cancers TP53 P04637 VAR_005959 p.Tyr220Ser US rs121912666 A brain tumor with no family history TP53 P04637 VAR_005960 p.Asp228Glu US - Sporadic cancers TP53 P04637 VAR_005961 p.Thr230Ile US - Sporadic cancers TP53 P04637 VAR_005962 p.Ile232Thr US rs587781589 Sporadic cancers TP53 P04637 VAR_005963 p.Tyr234Cys LP/P rs587780073 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005964 p.Tyr234His US rs864622237 Sporadic cancers TP53 P04637 VAR_005965 p.Met237Ile LP/P rs587782664 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005966 p.Cys238Phe US rs730882005 Sporadic cancers TP53 P04637 VAR_005967 p.Cys238Tyr US rs730882005 A familial cancer not matching LFS TP53 P04637 VAR_005968 p.Ser240Ile US - Sporadic cancers TP53 P04637 VAR_005969 p.Ser241Phe LP/P rs28934573 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005970 p.Cys242Phe US rs121912655 Sporadic cancers TP53 P04637 VAR_005971 p.Gly245Ala US rs121912656 Sporadic cancers TP53 P04637 VAR_005972 p.Gly245Cys LP/P rs28934575 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005973 p.Gly245Asp LP/P rs121912656 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005974 p.Gly245Ser LP/P rs28934575 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005975 p.Gly245Val LP/P rs121912656 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005976 p.Met246Arg US rs587780074 Sporadic cancers TP53 P04637 VAR_005977 p.Met246Thr US rs587780074 Sporadic cancers TP53 P04637 VAR_005978 p.Met246Val LP/P rs483352695 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005980 p.Asn247Ile US rs786201762 Sporadic cancers TP53 P04637 VAR_005981 p.Arg248Gly US rs121912651 Sporadic cancers TP53 P04637 VAR_005982 p.Arg248Leu US rs11540652 Sporadic cancers TP53 P04637 VAR_005983 p.Arg248Gln LP/P rs11540652 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005984 p.Arg248Trp LP/P rs121912651 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005985 p.Arg249Gly US rs587782082 Sporadic cancers TP53 P04637 VAR_005986 p.Arg249Ser US rs28934571 Sporadic cancers TP53 P04637 VAR_005987 p.Ile251Asn US - Sporadic cancers TP53 P04637 VAR_005988 p.Leu252Pro LP/P rs121912653 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005989 p.Leu257Pro US - Sporadic cancers TP53 P04637 VAR_005990 p.Glu258Asp US - Sporadic cancers TP53 P04637 VAR_005991 p.Glu258Lys LP/P rs121912652 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005992 p.Val272Leu LP/P rs121912657 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005993 p.Arg273Cys LP/P rs121913343 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005994 p.Arg273Gly LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005995 p.Arg273His LP/P rs28934576 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005997 p.Val274Phe US rs1057520005 Sporadic cancers TP53 P04637 VAR_005998 p.Cys275Tyr LP/P rs863224451 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005999 p.Cys275Trp US rs1555525279 Sporadic cancers TP53 P04637 VAR_006000 p.Cys277Gly US rs1064795369 Sporadic cancers TP53 P04637 VAR_006001 p.Pro278Ala US rs17849781 Sporadic cancers TP53 P04637 VAR_006002 p.Pro278His US rs876659802 Sporadic cancers TP53 P04637 VAR_006003 p.Pro278Leu LP/P rs876659802 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006004 p.Pro278Ser LP/P rs17849781 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006005 p.Pro278Thr LP/P rs17849781 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006006 p.Gly279Glu US rs1064793881 Sporadic cancers TP53 P04637 VAR_006007 p.Arg280Lys US rs121912660 A familial cancer not matching LFS TP53 P04637 VAR_006008 p.Arg280Ile US rs121912660 Sporadic cancers TP53 P04637 VAR_006009 p.Arg280Thr US rs121912660 Sporadic cancers TP53 P04637 VAR_006010 p.Asp281Ala US rs587781525 Sporadic cancers TP53 P04637 VAR_006011 p.Asp281Glu US rs1057519984 Sporadic cancers TP53 P04637 VAR_006012 p.Asp281Gly US rs587781525 A brain tumor with no family history TP53 P04637 VAR_006013 p.Asp281His US rs764146326 Sporadic cancers TP53 P04637 VAR_006014 p.Asp281Val US rs587781525 A familial cancer not matching LFS TP53 P04637 VAR_006015 p.Arg282Leu US rs730882008 Sporadic cancers TP53 P04637 VAR_006016 p.Arg282Trp LP/P rs28934574 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006017 p.Arg283Cys LP/P rs149633775 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006018 p.Arg283Gly US - Sporadic cancers TP53 P04637 VAR_006019 p.Arg283His US rs371409680 A brain tumor with no family history TP53 P04637 VAR_006020 p.Arg283Pro US - Sporadic cancers TP53 P04637 VAR_006021 p.Thr284Ala US - Sporadic cancers TP53 P04637 VAR_006022 p.Thr284Pro US rs1204379654 Sporadic cancers TP53 P04637 VAR_006023 p.Glu285Lys US rs112431538 Sporadic cancers TP53 P04637 VAR_006024 p.Glu285Gln LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006025 p.Glu285Val US rs121912667 Sporadic cancers TP53 P04637 VAR_006026 p.Glu286Ala LP/P rs1057519985 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006027 p.Glu286Asp US - Sporadic cancers TP53 P04637 VAR_006028 p.Glu286Gly US rs1057519985 Sporadic cancers TP53 P04637 VAR_006029 p.Glu286Lys US rs786201059 Sporadic cancers TP53 P04637 VAR_006030 p.Glu286Gln US rs786201059 Sporadic cancers TP53 P04637 VAR_006031 p.His296Pro US - A sporadic cancer TP53 P04637 VAR_006032 p.Pro300Arg US - A sporadic cancer TP53 P04637 VAR_006033 p.Pro301Leu US rs1555525067 Sporadic cancers TP53 P04637 VAR_006034 p.Gly302Glu US rs1060501202 Sporadic cancers TP53 P04637 VAR_006035 p.Gly302Val US - A sporadic cancer TP53 P04637 VAR_006036 p.Arg306Gln US rs1048095040 Sporadic cancers TP53 P04637 VAR_006037 p.Ala307Thr US - Sporadic cancers TP53 P04637 VAR_006038 p.Pro309Ser LP/P rs1555525012 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006039 p.Gly325Val LP/P rs121912659 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006040 p.Gly334Val US - Sporadic cancers TP53 P04637 VAR_006041 p.Arg337Cys LP/P rs587782529 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_012977 p.Val157Ile US rs121912654 Sporadic cancers TP53 P04637 VAR_014632 p.Pro47Ser LB/B rs1800371 - TP53 P04637 VAR_015819 p.Lys292Ile LP/P rs121912663 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_017908 p.Ile254Asn US - Sporadic cancers TP53 P04637 VAR_017909 p.Ile254Thr US - Sporadic cancers TP53 P04637 VAR_022316 p.Glu339Lys US rs17882252 A sporadic cancer TP53 P04637 VAR_022317 p.Ser366Ala US rs17881470 A familial cancer not matching LFS TP53 P04637 VAR_033033 p.Phe113Val US rs587781642 Sporadic cancers TP53 P04637 VAR_033034 p.Ala138Val US rs750600586 Sporadic cancers TP53 P04637 VAR_033035 p.Tyr163Cys LP/P rs148924904 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_033036 p.Ser241Ala US rs1057520002 Sporadic cancers TP53 P04637 VAR_033037 p.Arg249Met US rs587782329 Sporadic cancers TP53 P04637 VAR_033038 p.Ile251Ser US rs730882027 Sporadic cancers TP53 P04637 VAR_033039 p.Asp259Tyr US - Sporadic cancers TP53 P04637 VAR_035016 p.Arg337His LP/P rs121912664 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_036504 p.Phe134Leu US rs267605077 Sporadic cancers TP53 P04637 VAR_036505 p.Pro177Arg US rs751477326 Sporadic cancers TP53 P04637 VAR_036506 p.Arg213Pro LP/P rs587778720 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_036507 p.Arg267Trp US rs55832599 Sporadic cancers TP53 P04637 VAR_036508 p.Glu271Lys US rs1060501191 Sporadic cancers TP53 P04637 VAR_036509 p.Arg273Leu LP/P rs28934576 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044020 p.Met246Leu US rs483352695 Sporadic cancers TP53 P04637 VAR_044543 p.Gln5His US - A sporadic cancer TP53 P04637 VAR_044544 p.Ser6Leu US - A sporadic cancer TP53 P04637 VAR_044545 p.Pro8Ser US - A sporadic cancer TP53 P04637 VAR_044546 p.Val10Ile US rs535274413 A sporadic cancer TP53 P04637 VAR_044547 p.Glu11Lys US rs201382018 Sporadic cancers TP53 P04637 VAR_044548 p.Glu11Gln US rs201382018 Sporadic cancers TP53 P04637 VAR_044549 p.Ser15Arg US - A sporadic cancer TP53 P04637 VAR_044550 p.Gln16Leu US - A sporadic cancer TP53 P04637 VAR_044551 p.Glu17Asp US - A sporadic cancer TP53 P04637 VAR_044552 p.Lys24Asn US - A sporadic cancer TP53 P04637 VAR_044553 p.Glu28Ala US - A sporadic cancer TP53 P04637 VAR_044554 p.Val31Ile US rs201753350 Sporadic cancers TP53 P04637 VAR_044555 p.Ser33Thr US - A sporadic cancer TP53 P04637 VAR_044556 p.Pro34Leu US - A sporadic cancer TP53 P04637 VAR_044557 p.Pro36Leu US rs587781866 A sporadic cancer TP53 P04637 VAR_044558 p.Ser37Pro US - A sporadic cancer TP53 P04637 VAR_044559 p.Ser37Thr US - A sporadic cancer TP53 P04637 VAR_044560 p.Ala39Pro US - A sporadic cancer TP53 P04637 VAR_044561 p.Ala39Val US rs1353016807 A sporadic cancer TP53 P04637 VAR_044562 p.Asp42Tyr US - A sporadic cancer TP53 P04637 VAR_044563 p.Met44Ile US rs1060501190 A sporadic cancer TP53 P04637 VAR_044564 p.Met44Thr US - A sporadic cancer TP53 P04637 VAR_044565 p.Met44Val US - A sporadic cancer TP53 P04637 VAR_044566 p.Leu45Met US - A sporadic cancer TP53 P04637 VAR_044567 p.Ser46Phe US - Sporadic cancers TP53 P04637 VAR_044568 p.Ser46Pro US rs876659630 Sporadic cancers TP53 P04637 VAR_044569 p.Pro47Leu US - Sporadic cancers TP53 P04637 VAR_044570 p.Asp48Gly US - A sporadic cancer TP53 P04637 VAR_044571 p.Asp49His US rs587780728 Sporadic cancers TP53 P04637 VAR_044572 p.Asp49Asn US rs587780728 A sporadic cancer TP53 P04637 VAR_044573 p.Asp49Tyr US - Sporadic cancers TP53 P04637 VAR_044574 p.Gln52His US - A sporadic cancer TP53 P04637 VAR_044575 p.Trp53Gly US - A sporadic cancer TP53 P04637 VAR_044576 p.Phe54Leu US rs1555526742 A sporadic cancer TP53 P04637 VAR_044577 p.Phe54Tyr US - A sporadic cancer TP53 P04637 VAR_044578 p.Glu56Lys US - Sporadic cancers TP53 P04637 VAR_044579 p.Glu56Val US - A sporadic cancer TP53 P04637 VAR_044580 p.Pro58Gln US - A sporadic cancer TP53 P04637 VAR_044581 p.Pro58Thr US - A sporadic cancer TP53 P04637 VAR_044582 p.Gly59Cys US rs1237722021 Sporadic cancers TP53 P04637 VAR_044583 p.Gly59Asp US - Sporadic cancers TP53 P04637 VAR_044584 p.Pro60Leu US - Sporadic cancers TP53 P04637 VAR_044585 p.Pro60Gln US - A sporadic cancer TP53 P04637 VAR_044586 p.Asp61Gly US rs1460793472 Sporadic cancers TP53 P04637 VAR_044587 p.Asp61Asn US - Sporadic cancers TP53 P04637 VAR_044588 p.Glu62Asp US - A sporadic cancer TP53 P04637 VAR_044589 p.Ala63Thr US rs876658902 A sporadic cancer TP53 P04637 VAR_044590 p.Ala63Val US rs372201428 A sporadic cancer TP53 P04637 VAR_044591 p.Arg65Thr US rs1060501210 A sporadic cancer TP53 P04637 VAR_044592 p.Met66Ile US rs1555526711 A sporadic cancer TP53 P04637 VAR_044593 p.Met66Arg US - A sporadic cancer TP53 P04637 VAR_044594 p.Pro67Leu US - Sporadic cancers TP53 P04637 VAR_044595 p.Pro67Arg US - A sporadic cancer TP53 P04637 VAR_044596 p.Pro67Ser US - Sporadic cancers TP53 P04637 VAR_044597 p.Glu68Gly US - Sporadic cancers TP53 P04637 VAR_044598 p.Glu68Gln US - A sporadic cancer TP53 P04637 VAR_044599 p.Ala69Asp US - A sporadic cancer TP53 P04637 VAR_044600 p.Ala69Gly US rs756233241 Sporadic cancers TP53 P04637 VAR_044601 p.Ala69Thr US - A sporadic cancer TP53 P04637 VAR_044602 p.Ala69Val US rs756233241 A sporadic cancer TP53 P04637 VAR_044603 p.Ala70Thr US - A sporadic cancer TP53 P04637 VAR_044604 p.Pro71Thr US - A sporadic cancer TP53 P04637 VAR_044605 p.Val73Glu US - A sporadic cancer TP53 P04637 VAR_044606 p.Val73Leu US - Sporadic cancers TP53 P04637 VAR_044607 p.Val73Met US rs587782423 Sporadic cancers TP53 P04637 VAR_044608 p.Ala74Thr US - A sporadic cancer TP53 P04637 VAR_044609 p.Pro75Leu US - Sporadic cancers TP53 P04637 VAR_044610 p.Pro75Arg US - Sporadic cancers TP53 P04637 VAR_044611 p.Pro75Ser US - A sporadic cancer TP53 P04637 VAR_044612 p.Ala76Gly US - A sporadic cancer TP53 P04637 VAR_044613 p.Ala76Thr US - A sporadic cancer TP53 P04637 VAR_044614 p.Pro77Ala US - Sporadic cancers TP53 P04637 VAR_044615 p.Ala78Val US - Sporadic cancers TP53 P04637 VAR_044616 p.Ala79Gly US - A sporadic cancer TP53 P04637 VAR_044617 p.Ala79Val US - Sporadic cancers TP53 P04637 VAR_044618 p.Pro80Leu US - A sporadic cancer TP53 P04637 VAR_044619 p.Pro80Ser US rs1060501204 A sporadic cancer TP53 P04637 VAR_044620 p.Thr81Ile US - Sporadic cancers TP53 P04637 VAR_044621 p.Pro82Leu LP/P rs534447939 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044622 p.Pro82Ser US - Sporadic cancers TP53 P04637 VAR_044623 p.Ala83Glu US rs201717599 A sporadic cancer TP53 P04637 VAR_044624 p.Ala83Val US rs201717599 Sporadic cancers TP53 P04637 VAR_044625 p.Ala84Gly US - Sporadic cancers TP53 P04637 VAR_044626 p.Ala84Val US - Sporadic cancers TP53 P04637 VAR_044627 p.Pro85Leu US - Sporadic cancers TP53 P04637 VAR_044628 p.Pro85Ser US - Sporadic cancers TP53 P04637 VAR_044629 p.Ala86Val US - A sporadic cancer TP53 P04637 VAR_044630 p.Ala88Thr US - A sporadic cancer TP53 P04637 VAR_044631 p.Ala88Val US rs1555526631 Sporadic cancers TP53 P04637 VAR_044632 p.Pro89Leu US rs730881994 Sporadic cancers TP53 P04637 VAR_044633 p.Pro89Ser US - Sporadic cancers TP53 P04637 VAR_044634 p.Ser90Phe US rs1555526625 Sporadic cancers TP53 P04637 VAR_044635 p.Ser90Tyr US - A sporadic cancer TP53 P04637 VAR_044636 p.Trp91Cys US - A sporadic cancer TP53 P04637 VAR_044637 p.Pro92Ala US - A sporadic cancer TP53 P04637 VAR_044638 p.Pro92Leu US rs1210700121 A sporadic cancer TP53 P04637 VAR_044639 p.Pro92Ser US - A sporadic cancer TP53 P04637 VAR_044640 p.Leu93Met US - A sporadic cancer TP53 P04637 VAR_044641 p.Leu93Pro US - A sporadic cancer TP53 P04637 VAR_044642 p.Ser94Leu US - Sporadic cancers TP53 P04637 VAR_044643 p.Ser95Phe US - Sporadic cancers TP53 P04637 VAR_044644 p.Ser95Thr US - A sporadic cancer TP53 P04637 VAR_044645 p.Ser96Cys US - A sporadic cancer TP53 P04637 VAR_044646 p.Ser96Phe US - Sporadic cancers TP53 P04637 VAR_044647 p.Ser96Pro US - A sporadic cancer TP53 P04637 VAR_044648 p.Val97Ala US - A sporadic cancer TP53 P04637 VAR_044649 p.Val97Phe US - A sporadic cancer TP53 P04637 VAR_044650 p.Val97Ile US rs730882023 Familial cancer not matching LFS TP53 P04637 VAR_044651 p.Pro98Leu US rs1245723119 Sporadic cancers TP53 P04637 VAR_044652 p.Pro98Ser US - Sporadic cancers TP53 P04637 VAR_044653 p.Ser99Phe US - Sporadic cancers TP53 P04637 VAR_044654 p.Ser99Pro US - A sporadic cancer TP53 P04637 VAR_044655 p.Gln100Arg US - A sporadic cancer TP53 P04637 VAR_044656 p.Lys101Asn US rs878854069 A sporadic cancer TP53 P04637 VAR_044657 p.Lys101Arg US - Sporadic cancers TP53 P04637 VAR_044658 p.Thr102Ile US rs786202717 Sporadic cancers TP53 P04637 VAR_044659 p.Gln104His US - Sporadic cancers TP53 P04637 VAR_044660 p.Gln104Leu US - A sporadic cancer TP53 P04637 VAR_044661 p.Gly105Cys LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044662 p.Gly105Asp US rs587781504 Sporadic cancers TP53 P04637 VAR_044663 p.Gly105Arg US rs1060501195 Sporadic cancers TP53 P04637 VAR_044664 p.Gly105Ser US rs1060501195 A sporadic cancer TP53 P04637 VAR_044665 p.Gly105Val US - Sporadic cancers TP53 P04637 VAR_044666 p.Ser106Gly US - A sporadic cancer TP53 P04637 VAR_044667 p.Ser106Arg US rs1555526581 A familial cancer not matching LFS TP53 P04637 VAR_044668 p.Tyr107Cys US rs587782447 A sporadic cancer TP53 P04637 VAR_044669 p.Tyr107Asp US - Sporadic cancers TP53 P04637 VAR_044670 p.Tyr107His US rs368771578 A sporadic cancer TP53 P04637 VAR_044671 p.Gly108Asp US - A sporadic cancer TP53 P04637 VAR_044672 p.Gly108Ser US rs587782461 Sporadic cancers TP53 P04637 VAR_044673 p.Phe109Cys US - Sporadic cancers TP53 P04637 VAR_044674 p.Phe109Leu US - A sporadic cancer TP53 P04637 VAR_044675 p.Phe109Ser US rs1064796722 Sporadic cancers TP53 P04637 VAR_044676 p.Arg110Gly US - A sporadic cancer TP53 P04637 VAR_044677 p.Arg110His US rs11540654 Sporadic cancers TP53 P04637 VAR_044678 p.Arg110Ser US rs587781371 A sporadic cancer TP53 P04637 VAR_044679 p.Leu111Met US - A sporadic cancer TP53 P04637 VAR_044680 p.Leu111Pro US rs1057519997 Sporadic cancers TP53 P04637 VAR_044681 p.Leu111Gln US rs1057519997 Sporadic cancers TP53 P04637 VAR_044682 p.Leu111Arg US rs1057519997 Sporadic cancers TP53 P04637 VAR_044683 p.Gly112Asp US - Sporadic cancers TP53 P04637 VAR_044684 p.Gly112Ser US rs1423803759 Sporadic cancers TP53 P04637 VAR_044685 p.Phe113Ile US - A sporadic cancer TP53 P04637 VAR_044686 p.Phe113Leu US - Sporadic cancers TP53 P04637 VAR_044687 p.Phe113Ser US - Sporadic cancers TP53 P04637 VAR_044688 p.His115Tyr US - Sporadic cancers TP53 P04637 VAR_044689 p.Ser116Cys US - Sporadic cancers TP53 P04637 VAR_044690 p.Ser116Phe US - A sporadic cancer TP53 P04637 VAR_044691 p.Ser116Pro US - A sporadic cancer TP53 P04637 VAR_044692 p.Gly117Glu US rs755238756 Sporadic cancers TP53 P04637 VAR_044693 p.Gly117Arg US rs1555526518 Sporadic cancers TP53 P04637 VAR_044694 p.Thr118Ala US - A sporadic cancer TP53 P04637 VAR_044695 p.Thr118Ile US rs1064794141 Sporadic cancers TP53 P04637 VAR_044696 p.Thr118Arg US - A sporadic cancer TP53 P04637 VAR_044697 p.Ala119Asp US - A sporadic cancer TP53 P04637 VAR_044698 p.Ala119Thr US - A sporadic cancer TP53 P04637 VAR_044699 p.Lys120Glu US rs121912658 Sporadic cancers TP53 P04637 VAR_044700 p.Lys120Met US - Sporadic cancers TP53 P04637 VAR_044701 p.Lys120Gln US rs121912658 A sporadic cancer TP53 P04637 VAR_044702 p.Lys120Arg US - Sporadic cancers TP53 P04637 VAR_044703 p.Ser121Phe US - Sporadic cancers TP53 P04637 VAR_044704 p.Val122Leu US - A sporadic cancer TP53 P04637 VAR_044705 p.Thr123Ile US rs1555526486 A sporadic cancer TP53 P04637 VAR_044706 p.Thr123Asn US - A sporadic cancer TP53 P04637 VAR_044707 p.Cys124Gly US rs730881997 A sporadic cancer TP53 P04637 VAR_044708 p.Cys124Arg US - Sporadic cancers TP53 P04637 VAR_044709 p.Cys124Ser US rs730881997 Sporadic cancers TP53 P04637 VAR_044710 p.Cys124Trp US - A sporadic cancer TP53 P04637 VAR_044711 p.Cys124Tyr US - A sporadic cancer TP53 P04637 VAR_044712 p.Thr125Ala US - A sporadic cancer TP53 P04637 VAR_044713 p.Thr125Lys US rs786201057 Sporadic cancers TP53 P04637 VAR_044714 p.Thr125Pro US rs1057520003 A sporadic cancer TP53 P04637 VAR_044715 p.Thr125Arg US rs786201057 Sporadic cancers TP53 P04637 VAR_044716 p.Tyr126Cys US rs1555526335 A familial cancer not matching LFS TP53 P04637 VAR_044717 p.Tyr126Phe US - A sporadic cancer TP53 P04637 VAR_044718 p.Tyr126His US - Sporadic cancers TP53 P04637 VAR_044719 p.Tyr126Ser US - Sporadic cancers TP53 P04637 VAR_044720 p.Ser127Cys US rs730881999 A sporadic cancer TP53 P04637 VAR_044721 p.Ser127Pro US - Sporadic cancers TP53 P04637 VAR_044722 p.Ser127Thr US - Sporadic cancers TP53 P04637 VAR_044723 p.Ser127Tyr US - Sporadic cancers TP53 P04637 VAR_044724 p.Pro128Ala US - Sporadic cancers TP53 P04637 VAR_044725 p.Pro128Leu US - Sporadic cancers TP53 P04637 VAR_044726 p.Pro128Arg US - Sporadic cancers TP53 P04637 VAR_044727 p.Ala129Gly US - A sporadic cancer TP53 P04637 VAR_044728 p.Ala129Thr US rs1438095083 Sporadic cancers TP53 P04637 VAR_044729 p.Ala129Val US rs137852792 Sporadic cancers TP53 P04637 VAR_044730 p.Leu130Phe US rs863224683 Sporadic cancers TP53 P04637 VAR_044731 p.Leu130His US - Sporadic cancers TP53 P04637 VAR_044732 p.Leu130Ile US - A sporadic cancer TP53 P04637 VAR_044733 p.Leu130Pro US rs1131691013 Sporadic cancers TP53 P04637 VAR_044734 p.Leu130Val US rs863224683 Sporadic cancers TP53 P04637 VAR_044735 p.Asn131Asp US - A sporadic cancer TP53 P04637 VAR_044736 p.Asn131His US - Sporadic cancers TP53 P04637 VAR_044737 p.Asn131Ile US rs1131691037 Sporadic cancers TP53 P04637 VAR_044738 p.Asn131Thr US - A sporadic cancer TP53 P04637 VAR_044739 p.Asn131Tyr US rs587782160 Sporadic cancers TP53 P04637 VAR_044740 p.Lys132Glu LP/P rs747342068 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044741 p.Lys132Asn US rs866775781 Sporadic cancers TP53 P04637 VAR_044742 p.Lys132Arg US rs1057519996 Sporadic cancers TP53 P04637 VAR_044743 p.Lys132Thr US rs1057519996 Sporadic cancers TP53 P04637 VAR_044744 p.Met133Ile US rs1064795139 Sporadic cancers TP53 P04637 VAR_044745 p.Met133Lys US - Sporadic cancers TP53 P04637 VAR_044746 p.Met133Leu US - Sporadic cancers TP53 P04637 VAR_044747 p.Met133Arg LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044748 p.Met133Val US rs1057280220 Sporadic cancers TP53 P04637 VAR_044749 p.Phe134Cys US rs780442292 Sporadic cancers TP53 P04637 VAR_044750 p.Phe134Ile US - Sporadic cancers TP53 P04637 VAR_044751 p.Phe134Ser US - Sporadic cancers TP53 P04637 VAR_044752 p.Phe134Val US - Sporadic cancers TP53 P04637 VAR_044753 p.Cys135Gly US rs1057519975 Sporadic cancers TP53 P04637 VAR_044754 p.Cys135Arg US rs1057519975 Sporadic cancers TP53 P04637 VAR_044755 p.Cys135Trp US rs1057519976 Sporadic cancers TP53 P04637 VAR_044756 p.Cys135Tyr US rs587781991 Sporadic cancers TP53 P04637 VAR_044757 p.Gln136His US rs758781593 Sporadic cancers TP53 P04637 VAR_044758 p.Gln136Pro US - Sporadic cancers TP53 P04637 VAR_044759 p.Gln136Arg US - Sporadic cancers TP53 P04637 VAR_044760 p.Leu137Met US - Sporadic cancers TP53 P04637 VAR_044761 p.Leu137Pro US - Sporadic cancers TP53 P04637 VAR_044762 p.Leu137Val US - Sporadic cancers TP53 P04637 VAR_044763 p.Ala138Asp US - Sporadic cancers TP53 P04637 VAR_044764 p.Ala138Ser LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044765 p.Ala138Thr US - Sporadic cancers TP53 P04637 VAR_044766 p.Lys139Glu US rs1212996409 Sporadic cancers TP53 P04637 VAR_044767 p.Lys139Gln US - Sporadic cancers TP53 P04637 VAR_044768 p.Lys139Arg US - Sporadic cancers TP53 P04637 VAR_044769 p.Lys139Thr US - Sporadic cancers TP53 P04637 VAR_044770 p.Thr140Ala US - Sporadic cancers TP53 P04637 VAR_044771 p.Thr140Ile US - Sporadic cancers TP53 P04637 VAR_044772 p.Thr140Asn US rs786202561 A sporadic cancer TP53 P04637 VAR_044773 p.Thr140Pro US - A sporadic cancer TP53 P04637 VAR_044774 p.Thr140Ser US - Sporadic cancers TP53 P04637 VAR_044775 p.Cys141Arg US rs1057519978 Sporadic cancers TP53 P04637 VAR_044776 p.Cys141Ser US rs1057519978 Sporadic cancers TP53 P04637 VAR_044777 p.Cys141Trp US rs1057519977 Sporadic cancers TP53 P04637 VAR_044778 p.Pro142Ala US - Sporadic cancers TP53 P04637 VAR_044779 p.Pro142His US - Sporadic cancers TP53 P04637 VAR_044780 p.Pro142Leu US rs779196500 Sporadic cancers TP53 P04637 VAR_044781 p.Pro142Arg US - A sporadic cancer TP53 P04637 VAR_044782 p.Pro142Ser US - Sporadic cancers TP53 P04637 VAR_044783 p.Pro142Thr US - Sporadic cancers TP53 P04637 VAR_044784 p.Val143Glu US - Sporadic cancers TP53 P04637 VAR_044785 p.Val143Gly US rs1555526241 Sporadic cancers TP53 P04637 VAR_044786 p.Val143Leu US rs587782620 Sporadic cancers TP53 P04637 VAR_044787 p.Val143Met US rs587782620 Sporadic cancers TP53 P04637 VAR_044788 p.Gln144His US rs786201419 Sporadic cancers TP53 P04637 VAR_044789 p.Gln144Lys US - Sporadic cancers TP53 P04637 VAR_044790 p.Gln144Leu LP/P rs786203071 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044791 p.Gln144Arg US - Sporadic cancers TP53 P04637 VAR_044792 p.Leu145Met US - Sporadic cancers TP53 P04637 VAR_044793 p.Leu145Arg US - Sporadic cancers TP53 P04637 VAR_044794 p.Leu145Val US - Sporadic cancers TP53 P04637 VAR_044795 p.Trp146Cys US - A sporadic cancer TP53 P04637 VAR_044796 p.Trp146Gly US rs786203064 Sporadic cancers TP53 P04637 VAR_044797 p.Trp146Leu US - Sporadic cancers TP53 P04637 VAR_044798 p.Trp146Arg US - Sporadic cancers TP53 P04637 VAR_044799 p.Trp146Ser US - Sporadic cancers TP53 P04637 VAR_044800 p.Val147Ala US - Sporadic cancers TP53 P04637 VAR_044801 p.Val147Glu US - Sporadic cancers TP53 P04637 VAR_044802 p.Val147Phe US - A sporadic cancer TP53 P04637 VAR_044803 p.Val147Ile US rs1555526226 Sporadic cancers TP53 P04637 VAR_044804 p.Asp148Ala US rs1046611742 A sporadic cancer TP53 P04637 VAR_044805 p.Asp148Glu US - Sporadic cancers TP53 P04637 VAR_044806 p.Asp148Gly US - A sporadic cancer TP53 P04637 VAR_044807 p.Asp148Asn US - Sporadic cancers TP53 P04637 VAR_044808 p.Asp148Val US - Sporadic cancers TP53 P04637 VAR_044809 p.Asp148Tyr US rs1131691007 Sporadic cancers TP53 P04637 VAR_044810 p.Ser149Phe US rs1555526214 Sporadic cancers TP53 P04637 VAR_044811 p.Ser149Thr US - Sporadic cancers TP53 P04637 VAR_044812 p.Thr150Ala US - A sporadic cancer TP53 P04637 VAR_044813 p.Thr150Ile US - Sporadic cancers TP53 P04637 VAR_044814 p.Thr150Lys US - Sporadic cancers TP53 P04637 VAR_044815 p.Thr150Asn US - A sporadic cancer TP53 P04637 VAR_044816 p.Thr150Pro US - A sporadic cancer TP53 P04637 VAR_044817 p.Thr150Arg US - A sporadic cancer TP53 P04637 VAR_044818 p.Pro151His US rs1057520000 Sporadic cancers TP53 P04637 VAR_044819 p.Pro151Leu US - Sporadic cancers TP53 P04637 VAR_044820 p.Pro151Arg US rs1057520000 Sporadic cancers TP53 P04637 VAR_044821 p.Pro152Ala US - Sporadic cancers TP53 P04637 VAR_044822 p.Pro152Gln US - Sporadic cancers TP53 P04637 VAR_044823 p.Pro152Arg US - Sporadic cancers TP53 P04637 VAR_044824 p.Pro152Thr US - Sporadic cancers TP53 P04637 VAR_044825 p.Pro153Ala US - Sporadic cancers TP53 P04637 VAR_044826 p.Pro153His US - A sporadic cancer TP53 P04637 VAR_044827 p.Pro153Leu US - Sporadic cancers TP53 P04637 VAR_044828 p.Pro153Arg US - A sporadic cancer TP53 P04637 VAR_044829 p.Pro153Ser US rs1064795860 Sporadic cancers TP53 P04637 VAR_044830 p.Gly154Ala US - Sporadic cancers TP53 P04637 VAR_044831 p.Gly154Cys US - A sporadic cancer TP53 P04637 VAR_044832 p.Gly154Asp US rs762846821 Sporadic cancers TP53 P04637 VAR_044833 p.Gly154Ser US rs137852789 Sporadic cancers TP53 P04637 VAR_044834 p.Thr155Ile US - Sporadic cancers TP53 P04637 VAR_044835 p.Thr155Met US - A sporadic cancer TP53 P04637 VAR_044836 p.Thr155Asn LP/P rs786202752 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044837 p.Thr155Pro US - Sporadic cancers TP53 P04637 VAR_044838 p.Thr155Ser US rs786202752 Sporadic cancers TP53 P04637 VAR_044839 p.Arg156Cys US rs563378859 Sporadic cancers TP53 P04637 VAR_044840 p.Arg156Gly US - Sporadic cancers TP53 P04637 VAR_044841 p.Arg156His LP/P rs371524413 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044842 p.Arg156Leu US - Sporadic cancers TP53 P04637 VAR_044843 p.Arg156Ser US - Sporadic cancers TP53 P04637 VAR_044844 p.Val157Ala US rs1131691023 Sporadic cancers TP53 P04637 VAR_044845 p.Val157Gly US - Sporadic cancers TP53 P04637 VAR_044846 p.Val157Leu US - Sporadic cancers TP53 P04637 VAR_044847 p.Arg158Leu US - Sporadic cancers TP53 P04637 VAR_044848 p.Arg158Pro US rs587782144 Sporadic cancers TP53 P04637 VAR_044849 p.Arg158Gln US - A sporadic cancer TP53 P04637 VAR_044850 p.Arg158Ser US - Sporadic cancers TP53 P04637 VAR_044851 p.Ala159Asp US - Sporadic cancers TP53 P04637 VAR_044852 p.Ala159Gly US - Sporadic cancers TP53 P04637 VAR_044853 p.Ala159Pro US rs730882000 Sporadic cancers TP53 P04637 VAR_044854 p.Ala159Ser US - Sporadic cancers TP53 P04637 VAR_044855 p.Ala159Thr US rs730882000 Sporadic cancers TP53 P04637 VAR_044856 p.Ala159Val US rs1555526131 Sporadic cancers TP53 P04637 VAR_044857 p.Met160Lys US - Sporadic cancers TP53 P04637 VAR_044858 p.Met160Thr US - A sporadic cancer TP53 P04637 VAR_044859 p.Met160Val US rs377274728 Sporadic cancers TP53 P04637 VAR_044860 p.Ala161Asp US rs1064795691 Sporadic cancers TP53 P04637 VAR_044861 p.Ala161Gly US - Sporadic cancers TP53 P04637 VAR_044862 p.Ala161Pro US - Sporadic cancers TP53 P04637 VAR_044863 p.Ala161Thr US rs193920817 Sporadic cancers TP53 P04637 VAR_044864 p.Ala161Val US - Sporadic cancers TP53 P04637 VAR_044865 p.Ile162Phe US - Sporadic cancers TP53 P04637 VAR_044866 p.Ile162Met US - Sporadic cancers TP53 P04637 VAR_044867 p.Ile162Asn US - A breast cancer with no family history TP53 P04637 VAR_044868 p.Ile162Thr US - Sporadic cancers TP53 P04637 VAR_044869 p.Tyr163Asp US rs786203436 Sporadic cancers TP53 P04637 VAR_044870 p.Tyr163Phe US - A sporadic cancer TP53 P04637 VAR_044871 p.Tyr163Asn US rs786203436 Sporadic cancers TP53 P04637 VAR_044872 p.Tyr163Ser US - Sporadic cancers TP53 P04637 VAR_044873 p.Lys164Glu US rs879254249 Sporadic cancers TP53 P04637 VAR_044874 p.Lys164Met US - Sporadic cancers TP53 P04637 VAR_044875 p.Lys164Arg US - Sporadic cancers TP53 P04637 VAR_044876 p.Lys164Thr US - Sporadic cancers TP53 P04637 VAR_044877 p.Gln165Glu US - Sporadic cancers TP53 P04637 VAR_044878 p.Gln165His US - A sporadic cancer TP53 P04637 VAR_044879 p.Gln165Pro US - Sporadic cancers TP53 P04637 VAR_044880 p.Ser166Ala US - Sporadic cancers TP53 P04637 VAR_044881 p.Ser166Gly US - A sporadic cancer TP53 P04637 VAR_044882 p.Ser166Pro US - Sporadic cancers TP53 P04637 VAR_044883 p.Ser166Thr US - Sporadic cancers TP53 P04637 VAR_044884 p.Gln167His US - Sporadic cancers TP53 P04637 VAR_044885 p.Gln167Lys LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044886 p.Gln167Leu US - Sporadic cancers TP53 P04637 VAR_044887 p.Gln167Arg US - Sporadic cancers TP53 P04637 VAR_044888 p.His168Asp US - Sporadic cancers TP53 P04637 VAR_044889 p.His168Leu US - Sporadic cancers TP53 P04637 VAR_044890 p.His168Asn US - Sporadic cancers TP53 P04637 VAR_044891 p.His168Pro US - Sporadic cancers TP53 P04637 VAR_044892 p.His168Gln US - Sporadic cancers TP53 P04637 VAR_044893 p.His168Tyr US - Sporadic cancers TP53 P04637 VAR_044894 p.Met169Lys US - Sporadic cancers TP53 P04637 VAR_044895 p.Met169Val US - Sporadic cancers TP53 P04637 VAR_044896 p.Thr170Ala US rs587780729 Sporadic cancers TP53 P04637 VAR_044897 p.Thr170Lys US - A sporadic cancer TP53 P04637 VAR_044898 p.Thr170Pro US - A sporadic cancer TP53 P04637 VAR_044899 p.Glu171Ala US - A sporadic cancer TP53 P04637 VAR_044900 p.Glu171Asp US - Sporadic cancers TP53 P04637 VAR_044901 p.Glu171Gly US - Sporadic cancers TP53 P04637 VAR_044902 p.Glu171Lys US rs587781845 Sporadic cancers TP53 P04637 VAR_044903 p.Glu171Gln US - A sporadic cancer TP53 P04637 VAR_044904 p.Glu171Val US - Sporadic cancers TP53 P04637 VAR_044905 p.Val172Asp US - Sporadic cancers TP53 P04637 VAR_044906 p.Val172Phe LP/P rs1131691043 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044907 p.Val172Gly US rs1131691021 Sporadic cancers TP53 P04637 VAR_044908 p.Val172Ile US - Sporadic cancers TP53 P04637 VAR_044909 p.Val173Ala US rs1057519747 Sporadic cancers TP53 P04637 VAR_044910 p.Val173Gly US rs1057519747 Sporadic cancers TP53 P04637 VAR_044911 p.Arg174Gly LP/P rs864622115 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044912 p.Arg174Met US - Sporadic cancers TP53 P04637 VAR_044913 p.Arg174Ser US - Sporadic cancers TP53 P04637 VAR_044914 p.Arg174Thr US - A sporadic cancer TP53 P04637 VAR_044915 p.Arg174Trp US - Sporadic cancers TP53 P04637 VAR_044916 p.Arg175Gln US - A sporadic cancer TP53 P04637 VAR_044917 p.Arg175Ser US - Sporadic cancers TP53 P04637 VAR_044918 p.Cys176Gly US - Sporadic cancers TP53 P04637 VAR_044919 p.Cys176Arg US - Sporadic cancers TP53 P04637 VAR_044920 p.Cys176Ser US rs967461896 Sporadic cancers TP53 P04637 VAR_044921 p.Cys176Tyr US rs786202962 Sporadic cancers TP53 P04637 VAR_044922 p.Pro177Ala US - A sporadic cancer TP53 P04637 VAR_044923 p.Pro177His US - Sporadic cancers TP53 P04637 VAR_044924 p.Pro177Ser US rs147002414 Sporadic cancers TP53 P04637 VAR_044925 p.Pro177Thr US - A sporadic cancer TP53 P04637 VAR_044926 p.His178Asp US - Sporadic cancers TP53 P04637 VAR_044927 p.His178Leu US - A sporadic cancer TP53 P04637 VAR_044928 p.His178Asn US rs1064795203 Sporadic cancers TP53 P04637 VAR_044929 p.His178Pro US rs1555526004 Sporadic cancers TP53 P04637 VAR_044930 p.His178Gln US - Sporadic cancers TP53 P04637 VAR_044931 p.His178Arg US - Sporadic cancers TP53 P04637 VAR_044932 p.His178Tyr US - Sporadic cancers TP53 P04637 VAR_044933 p.His179Asp US rs587780070 Sporadic cancers TP53 P04637 VAR_044934 p.His179Leu US rs1057519991 Sporadic cancers TP53 P04637 VAR_044935 p.His179Asn US rs587780070 Sporadic cancers TP53 P04637 VAR_044936 p.His179Pro US rs1057519991 Sporadic cancers TP53 P04637 VAR_044937 p.His179Gln US rs876660821 Sporadic cancers TP53 P04637 VAR_044938 p.His179Arg US rs1057519991 Sporadic cancers TP53 P04637 VAR_044939 p.His179Tyr LP/P rs587780070 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044940 p.Glu180Ala US - A sporadic cancer TP53 P04637 VAR_044941 p.Glu180Asp US - Sporadic cancers TP53 P04637 VAR_044942 p.Glu180Gly US - A sporadic cancer TP53 P04637 VAR_044943 p.Glu180Lys LP/P rs879253911 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044944 p.Glu180Gln US - Sporadic cancers TP53 P04637 VAR_044945 p.Glu180Val US - A sporadic cancer TP53 P04637 VAR_044946 p.Arg181Cys LP/P rs587782596 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044947 p.Arg181Gly US - Sporadic cancers TP53 P04637 VAR_044948 p.Arg181His LP/P rs397514495 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044949 p.Arg181Pro US - A familial cancer not matching LFS TP53 P04637 VAR_044950 p.Arg181Ser US rs587782596 Sporadic cancers TP53 P04637 VAR_044951 p.Cys182Arg US - Sporadic cancers TP53 P04637 VAR_044952 p.Cys182Tyr US - Sporadic cancers TP53 P04637 VAR_044953 p.Ser183Leu US rs1555525970 Sporadic cancers TP53 P04637 VAR_044954 p.Ser183Pro US - Sporadic cancers TP53 P04637 VAR_044955 p.Asp184Gly US rs1060501209 Sporadic cancers TP53 P04637 VAR_044956 p.Asp184His US - Sporadic cancers TP53 P04637 VAR_044957 p.Asp184Val US - Sporadic cancers TP53 P04637 VAR_044958 p.Ser185Cys US - A sporadic cancer TP53 P04637 VAR_044959 p.Ser185Gly US - Sporadic cancers TP53 P04637 VAR_044960 p.Ser185Ile US - Sporadic cancers TP53 P04637 VAR_044961 p.Ser185Asn US rs150607408 A sporadic cancer TP53 P04637 VAR_044962 p.Ser185Arg US - Sporadic cancers TP53 P04637 VAR_044963 p.Ser185Thr US - A sporadic cancer TP53 P04637 VAR_044964 p.Asp186Glu US rs375275361 A sporadic cancer TP53 P04637 VAR_044965 p.Asp186Gly US - Sporadic cancers TP53 P04637 VAR_044966 p.Asp186His US - Sporadic cancers TP53 P04637 VAR_044967 p.Asp186Asn US rs1060501206 Sporadic cancers TP53 P04637 VAR_044968 p.Asp186Val US - Sporadic cancers TP53 P04637 VAR_044969 p.Gly187Asp US - Sporadic cancers TP53 P04637 VAR_044970 p.Gly187Arg US - Sporadic cancers TP53 P04637 VAR_044971 p.Gly187Val US - Sporadic cancers TP53 P04637 VAR_044972 p.Leu188Pro US rs1199893366 A sporadic cancer TP53 P04637 VAR_044973 p.Leu188Val US - Sporadic cancers TP53 P04637 VAR_044974 p.Ala189Asp US - A sporadic cancer TP53 P04637 VAR_044975 p.Ala189Gly US - Sporadic cancers TP53 P04637 VAR_044976 p.Ala189Ser US rs1555525921 A sporadic cancer TP53 P04637 VAR_044977 p.Ala189Thr US - Sporadic cancers TP53 P04637 VAR_044978 p.Ala189Val US rs121912665 A familial cancer not matching LFS TP53 P04637 VAR_044979 p.Pro190Ala US - Sporadic cancers TP53 P04637 VAR_044980 p.Pro190His US - A sporadic cancer TP53 P04637 VAR_044981 p.Pro190Arg US rs876660825 Sporadic cancers TP53 P04637 VAR_044982 p.Pro190Ser US - Sporadic cancers TP53 P04637 VAR_044983 p.Pro190Thr US rs876660254 Sporadic cancers TP53 P04637 VAR_044984 p.Pro191His US rs587778718 Sporadic cancers TP53 P04637 VAR_044985 p.Pro191Leu US rs587778718 Sporadic cancers TP53 P04637 VAR_044986 p.Pro191Arg US rs587778718 Sporadic cancers TP53 P04637 VAR_044987 p.Pro191Ser US rs868590738 Sporadic cancers TP53 P04637 VAR_044988 p.Gln192His US - Sporadic cancers TP53 P04637 VAR_044989 p.Gln192Lys US - A sporadic cancer TP53 P04637 VAR_044990 p.Gln192Leu US - Sporadic cancers TP53 P04637 VAR_044991 p.Gln192Pro US - Sporadic cancers TP53 P04637 VAR_044992 p.His193Leu US rs786201838 Sporadic cancers TP53 P04637 VAR_044993 p.His193Asn US rs876658468 Sporadic cancers TP53 P04637 VAR_044994 p.His193Pro US rs786201838 Sporadic cancers TP53 P04637 VAR_044995 p.His193Gln US - Sporadic cancers TP53 P04637 VAR_044996 p.His193Tyr US rs876658468 Sporadic cancers TP53 P04637 VAR_044997 p.Leu194Phe US rs587780071 Sporadic cancers TP53 P04637 VAR_044998 p.Leu194His US rs1057519998 Sporadic cancers TP53 P04637 VAR_044999 p.Leu194Ile US - Sporadic cancers TP53 P04637 VAR_045000 p.Leu194Val US - Sporadic cancers TP53 P04637 VAR_045001 p.Ile195Phe US rs942158624 Sporadic cancers TP53 P04637 VAR_045002 p.Ile195Asn US rs760043106 Sporadic cancers TP53 P04637 VAR_045003 p.Ile195Ser US rs760043106 Sporadic cancers TP53 P04637 VAR_045004 p.Ile195Val US - A sporadic cancer TP53 P04637 VAR_045005 p.Arg196Gly US rs397516435 Sporadic cancers TP53 P04637 VAR_045006 p.Arg196Leu US rs483352697 Sporadic cancers TP53 P04637 VAR_045007 p.Arg196Pro LP/P rs483352697 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045008 p.Arg196Gln US rs483352697 Sporadic cancers TP53 P04637 VAR_045009 p.Arg196Ser US - A sporadic cancer TP53 P04637 VAR_045010 p.Val197Glu US - A familial cancer not matching LFS TP53 P04637 VAR_045011 p.Val197Gly US - Sporadic cancers TP53 P04637 VAR_045012 p.Val197Leu US rs786204041 Sporadic cancers TP53 P04637 VAR_045013 p.Val197Met LP/P rs786204041 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045014 p.Glu198Asp US - A sporadic cancer TP53 P04637 VAR_045015 p.Glu198Gly US - Sporadic cancers TP53 P04637 VAR_045016 p.Glu198Gln US - Sporadic cancers TP53 P04637 VAR_045017 p.Glu198Val US - A sporadic cancer TP53 P04637 VAR_045018 p.Gly199Ala US - A sporadic cancer TP53 P04637 VAR_045019 p.Gly199Glu US - Sporadic cancers TP53 P04637 VAR_045020 p.Gly199Arg US - Sporadic cancers TP53 P04637 VAR_045021 p.Gly199Val US rs1555525857 Sporadic cancers TP53 P04637 VAR_045022 p.Asn200Asp US - Sporadic cancers TP53 P04637 VAR_045023 p.Asn200Ile US - Sporadic cancers TP53 P04637 VAR_045024 p.Asn200Lys US - A sporadic cancer TP53 P04637 VAR_045025 p.Asn200Ser US - Sporadic cancers TP53 P04637 VAR_045026 p.Asn200Thr US - A sporadic cancer TP53 P04637 VAR_045027 p.Leu201Phe US rs730882024 Sporadic cancers TP53 P04637 VAR_045028 p.Leu201Pro US - A sporadic cancer TP53 P04637 VAR_045029 p.Leu201Ser US - A sporadic cancer TP53 P04637 VAR_045030 p.Arg202Cys US rs587780072 Sporadic cancers TP53 P04637 VAR_045031 p.Arg202Gly US rs587780072 Sporadic cancers TP53 P04637 VAR_045032 p.Arg202His US rs587778719 Sporadic cancers TP53 P04637 VAR_045033 p.Arg202Leu US rs587778719 Sporadic cancers TP53 P04637 VAR_045034 p.Arg202Pro US - Sporadic cancers TP53 P04637 VAR_045035 p.Arg202Ser US - Sporadic cancers TP53 P04637 VAR_045036 p.Val203Ala US - Sporadic cancers TP53 P04637 VAR_045037 p.Val203Glu US - Sporadic cancers TP53 P04637 VAR_045038 p.Val203Leu US - Sporadic cancers TP53 P04637 VAR_045039 p.Val203Met US rs730882003 Sporadic cancers TP53 P04637 VAR_045040 p.Glu204Ala US - Sporadic cancers TP53 P04637 VAR_045041 p.Glu204Asp US - Sporadic cancers TP53 P04637 VAR_045042 p.Glu204Gly US rs1260903787 Sporadic cancers TP53 P04637 VAR_045043 p.Glu204Lys US - Sporadic cancers TP53 P04637 VAR_045044 p.Glu204Gln US - A sporadic cancer TP53 P04637 VAR_045045 p.Glu204Val US - A sporadic cancer TP53 P04637 VAR_045046 p.Tyr205His US rs1057520008 Sporadic cancers TP53 P04637 VAR_045047 p.Tyr205Asn US rs1057520008 Sporadic cancers TP53 P04637 VAR_045048 p.Tyr205Ser US rs1057520007 Sporadic cancers TP53 P04637 VAR_045049 p.Leu206Phe US - A sporadic cancer TP53 P04637 VAR_045050 p.Leu206Met US - A sporadic cancer TP53 P04637 VAR_045051 p.Asp207Glu US - Sporadic cancers TP53 P04637 VAR_045052 p.Asp207Gly US - Sporadic cancers TP53 P04637 VAR_045053 p.Asp207His US - Sporadic cancers TP53 P04637 VAR_045054 p.Asp207Asn US rs923100890 Sporadic cancers TP53 P04637 VAR_045055 p.Asp207Val US - A sporadic cancer TP53 P04637 VAR_045056 p.Asp207Tyr US - A sporadic cancer TP53 P04637 VAR_045057 p.Asp208Glu US - Sporadic cancers TP53 P04637 VAR_045058 p.Asp208Gly US - Sporadic cancers TP53 P04637 VAR_045059 p.Asp208His US - A sporadic cancer TP53 P04637 VAR_045060 p.Asp208Asn US - Sporadic cancers TP53 P04637 VAR_045061 p.Asp208Val US rs1464727668 Sporadic cancers TP53 P04637 VAR_045062 p.Asp208Tyr US - A sporadic cancer TP53 P04637 VAR_045063 p.Arg209Ile US - Sporadic cancers TP53 P04637 VAR_045064 p.Arg209Lys US - Sporadic cancers TP53 P04637 VAR_045065 p.Arg209Ser US - A sporadic cancer TP53 P04637 VAR_045066 p.Arg209Thr US - Sporadic cancers TP53 P04637 VAR_045067 p.Asn210Asp US - Sporadic cancers TP53 P04637 VAR_045068 p.Asn210His US - Sporadic cancers TP53 P04637 VAR_045069 p.Asn210Ile US - A sporadic cancer TP53 P04637 VAR_045070 p.Asn210Lys US - A sporadic cancer TP53 P04637 VAR_045071 p.Asn210Ser US - Sporadic cancers TP53 P04637 VAR_045072 p.Asn210Thr US - A sporadic cancer TP53 P04637 VAR_045073 p.Asn210Tyr US rs1060501200 A familial cancer not matching LFS TP53 P04637 VAR_045074 p.Thr211Ala US rs1060501198 Sporadic cancers TP53 P04637 VAR_045075 p.Thr211Ile US - Sporadic cancers TP53 P04637 VAR_045076 p.Thr211Asn US - Sporadic cancers TP53 P04637 VAR_045077 p.Thr211Pro US - A sporadic cancer TP53 P04637 VAR_045078 p.Thr211Ser US - Sporadic cancers TP53 P04637 VAR_045079 p.Phe212Ile US rs1064795766 Sporadic cancers TP53 P04637 VAR_045080 p.Phe212Leu US - Sporadic cancers TP53 P04637 VAR_045081 p.Phe212Ser US - Sporadic cancers TP53 P04637 VAR_045082 p.Phe212Val US - A sporadic cancer TP53 P04637 VAR_045083 p.Phe212Tyr US - Sporadic cancers TP53 P04637 VAR_045084 p.Arg213Gly US rs397516436 Sporadic cancers TP53 P04637 VAR_045085 p.Arg213Leu US rs587778720 Sporadic cancers TP53 P04637 VAR_045086 p.Arg213Trp US - Sporadic cancers TP53 P04637 VAR_045087 p.His214Asp US - Sporadic cancers TP53 P04637 VAR_045088 p.His214Pro US rs1057519992 A sporadic cancer TP53 P04637 VAR_045089 p.His214Arg US rs1057519992 Sporadic cancers TP53 P04637 VAR_045090 p.His214Tyr US - Sporadic cancers TP53 P04637 VAR_045091 p.Ser215Cys US - Sporadic cancers TP53 P04637 VAR_045092 p.Ser215Gly US rs886039484 Sporadic cancers TP53 P04637 VAR_045093 p.Ser215Ile US rs587782177 Sporadic cancers TP53 P04637 VAR_045094 p.Ser215Asn US rs587782177 Sporadic cancers TP53 P04637 VAR_045095 p.Ser215Arg US rs1057520001 Sporadic cancers TP53 P04637 VAR_045096 p.Ser215Thr US rs587782177 Sporadic cancers TP53 P04637 VAR_045097 p.Val216Ala US - Sporadic cancers TP53 P04637 VAR_045098 p.Val216Glu US rs1057520004 Sporadic cancers TP53 P04637 VAR_045099 p.Val216Gly US rs1057520004 Sporadic cancers TP53 P04637 VAR_045100 p.Val216Leu US rs730882025 Sporadic cancers TP53 P04637 VAR_045101 p.Val217Ala US - Sporadic cancers TP53 P04637 VAR_045102 p.Val217Glu US - Sporadic cancers TP53 P04637 VAR_045103 p.Val217Gly US - Sporadic cancers TP53 P04637 VAR_045104 p.Val217Ile US - A sporadic cancer TP53 P04637 VAR_045105 p.Val217Leu US - Sporadic cancers TP53 P04637 VAR_045106 p.Val218Ala US - Sporadic cancers TP53 P04637 VAR_045107 p.Val218Glu US - Sporadic cancers TP53 P04637 VAR_045108 p.Val218Gly US rs1555525743 Sporadic cancers TP53 P04637 VAR_045109 p.Val218Leu US - Sporadic cancers TP53 P04637 VAR_045110 p.Val218Met US rs878854072 Sporadic cancers TP53 P04637 VAR_045111 p.Pro219His US - A sporadic cancer TP53 P04637 VAR_045112 p.Pro219Leu US rs1420675064 Sporadic cancers TP53 P04637 VAR_045113 p.Pro219Arg US - A sporadic cancer TP53 P04637 VAR_045114 p.Pro219Ser US rs879253894 A familial cancer not matching LFS TP53 P04637 VAR_045115 p.Pro219Thr US - Sporadic cancers TP53 P04637 VAR_045116 p.Tyr220Asp US rs530941076 Sporadic cancers TP53 P04637 VAR_045117 p.Tyr220Phe US - A sporadic cancer TP53 P04637 VAR_045118 p.Tyr220Asn US rs530941076 Sporadic cancers TP53 P04637 VAR_045119 p.Glu221Ala US - Sporadic cancers TP53 P04637 VAR_045120 p.Glu221Asp US - Sporadic cancers TP53 P04637 VAR_045121 p.Glu221Gly US - Sporadic cancers TP53 P04637 VAR_045122 p.Glu221Lys US rs786201592 Sporadic cancers TP53 P04637 VAR_045123 p.Glu221Gln US - Sporadic cancers TP53 P04637 VAR_045124 p.Pro222Ala US - A sporadic cancer TP53 P04637 VAR_045125 p.Pro222Leu US rs146340390 Sporadic cancers TP53 P04637 VAR_045126 p.Pro222Gln US - Sporadic cancers TP53 P04637 VAR_045127 p.Pro222Arg US - A sporadic cancer TP53 P04637 VAR_045128 p.Pro222Ser US rs1060501203 Sporadic cancers TP53 P04637 VAR_045129 p.Pro222Thr US - Sporadic cancers TP53 P04637 VAR_045130 p.Pro223His US rs138983188 Sporadic cancers TP53 P04637 VAR_045131 p.Pro223Leu US rs138983188 Sporadic cancers TP53 P04637 VAR_045132 p.Pro223Arg US - A sporadic cancer TP53 P04637 VAR_045133 p.Pro223Ser US - A sporadic cancer TP53 P04637 VAR_045134 p.Pro223Thr US - A sporadic cancer TP53 P04637 VAR_045135 p.Glu224Asp US rs267605076 Sporadic cancers TP53 P04637 VAR_045136 p.Glu224Gly US - Sporadic cancers TP53 P04637 VAR_045137 p.Glu224Lys US rs1555525707 Sporadic cancers TP53 P04637 VAR_045138 p.Glu224Val US - A sporadic cancer TP53 P04637 VAR_045139 p.Val225Ala US - Sporadic cancers TP53 P04637 VAR_045140 p.Val225Asp US - A sporadic cancer TP53 P04637 VAR_045141 p.Val225Phe US - Sporadic cancers TP53 P04637 VAR_045142 p.Val225Gly US - A sporadic cancer TP53 P04637 VAR_045143 p.Val225Ile US - Sporadic cancers TP53 P04637 VAR_045144 p.Val225Leu US rs746504075 A sporadic cancer TP53 P04637 VAR_045145 p.Gly226Ala US - Sporadic cancers TP53 P04637 VAR_045146 p.Gly226Ser US - Sporadic cancers TP53 P04637 VAR_045147 p.Gly226Val US rs970212462 Sporadic cancers TP53 P04637 VAR_045148 p.Ser227Cys US - Sporadic cancers TP53 P04637 VAR_045149 p.Ser227Phe US - Sporadic cancers TP53 P04637 VAR_045150 p.Ser227Pro US - A sporadic cancer TP53 P04637 VAR_045151 p.Ser227Thr LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045152 p.Asp228Ala US - Sporadic cancers TP53 P04637 VAR_045153 p.Asp228Gly US - Sporadic cancers TP53 P04637 VAR_045154 p.Asp228His US - Sporadic cancers TP53 P04637 VAR_045155 p.Asp228Asn US - Sporadic cancers TP53 P04637 VAR_045156 p.Asp228Val US - Sporadic cancers TP53 P04637 VAR_045157 p.Asp228Tyr US - Sporadic cancers TP53 P04637 VAR_045158 p.Cys229Gly US - A sporadic cancer TP53 P04637 VAR_045159 p.Cys229Arg US rs1064794312 Sporadic cancers TP53 P04637 VAR_045160 p.Cys229Ser US - Sporadic cancers TP53 P04637 VAR_045161 p.Cys229Tyr US rs1064793603 Sporadic cancers TP53 P04637 VAR_045162 p.Thr230Ala US - Sporadic cancers TP53 P04637 VAR_045163 p.Thr230Asn US - Sporadic cancers TP53 P04637 VAR_045164 p.Thr230Pro US - Sporadic cancers TP53 P04637 VAR_045165 p.Thr230Ser US - Sporadic cancers TP53 P04637 VAR_045166 p.Thr231Ala US - Sporadic cancers TP53 P04637 VAR_045167 p.Thr231Ile US rs1555525564 Sporadic cancers TP53 P04637 VAR_045168 p.Thr231Asn US - Sporadic cancers TP53 P04637 VAR_045169 p.Thr231Ser US - Sporadic cancers TP53 P04637 VAR_045170 p.Ile232Phe US - Sporadic cancers TP53 P04637 VAR_045171 p.Ile232Leu US rs1555525562 Sporadic cancers TP53 P04637 VAR_045172 p.Ile232Asn US - Sporadic cancers TP53 P04637 VAR_045173 p.Ile232Ser US - Sporadic cancers TP53 P04637 VAR_045174 p.Ile232Val US - Sporadic cancers TP53 P04637 VAR_045175 p.His233Asp LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045176 p.His233Leu US - Sporadic cancers TP53 P04637 VAR_045177 p.His233Pro US - A sporadic cancer TP53 P04637 VAR_045178 p.His233Gln US - Sporadic cancers TP53 P04637 VAR_045179 p.His233Tyr US - Sporadic cancers TP53 P04637 VAR_045180 p.Tyr234Asp US rs864622237 Sporadic cancers TP53 P04637 VAR_045181 p.Tyr234Phe US - A sporadic cancer TP53 P04637 VAR_045182 p.Tyr234Asn US rs864622237 Sporadic cancers TP53 P04637 VAR_045183 p.Tyr234Ser US rs587780073 Sporadic cancers TP53 P04637 VAR_045184 p.Asn235His US - A sporadic cancer TP53 P04637 VAR_045185 p.Asn235Ile US rs144340710 Sporadic cancers TP53 P04637 VAR_045186 p.Asn235Ser LP/P rs144340710 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045187 p.Asn235Thr US - Sporadic cancers TP53 P04637 VAR_045188 p.Asn235Tyr US rs786204145 Sporadic cancers TP53 P04637 VAR_045189 p.Tyr236Cys LP/P rs730882026 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045190 p.Tyr236Asp US rs587782289 Sporadic cancers TP53 P04637 VAR_045191 p.Tyr236Phe US - A sporadic cancer TP53 P04637 VAR_045192 p.Tyr236His US rs587782289 Sporadic cancers TP53 P04637 VAR_045193 p.Tyr236Asn US rs587782289 Sporadic cancers TP53 P04637 VAR_045194 p.Tyr236Ser US rs730882026 Sporadic cancers TP53 P04637 VAR_045195 p.Met237Lys US rs765848205 Sporadic cancers TP53 P04637 VAR_045196 p.Met237Leu US - Sporadic cancers TP53 P04637 VAR_045197 p.Met237Arg US rs765848205 Sporadic cancers TP53 P04637 VAR_045198 p.Met237Thr US - Sporadic cancers TP53 P04637 VAR_045199 p.Met237Val US rs730882004 Sporadic cancers TP53 P04637 VAR_045200 p.Cys238Gly LP/P rs1057519981 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045201 p.Cys238Arg US rs1057519981 Sporadic cancers TP53 P04637 VAR_045202 p.Cys238Ser LP/P rs730882005 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045203 p.Cys238Trp US rs193920789 Sporadic cancers TP53 P04637 VAR_045204 p.Asn239Asp US rs876660807 Sporadic cancers TP53 P04637 VAR_045205 p.Asn239His US - A sporadic cancer TP53 P04637 VAR_045206 p.Asn239Ile US - A sporadic cancer TP53 P04637 VAR_045207 p.Asn239Lys US rs1057522275 Sporadic cancers TP53 P04637 VAR_045208 p.Asn239Ser US rs1057519999 Sporadic cancers TP53 P04637 VAR_045209 p.Asn239Thr US rs1057519999 Sporadic cancers TP53 P04637 VAR_045210 p.Asn239Tyr US - Sporadic cancers TP53 P04637 VAR_045211 p.Ser240Cys US - Sporadic cancers TP53 P04637 VAR_045212 p.Ser240Gly US - Sporadic cancers TP53 P04637 VAR_045213 p.Ser240Asn US - Sporadic cancers TP53 P04637 VAR_045214 p.Ser240Pro US - A sporadic cancer TP53 P04637 VAR_045215 p.Ser240Arg US - Sporadic cancers TP53 P04637 VAR_045216 p.Ser240Thr US - Sporadic cancers TP53 P04637 VAR_045217 p.Ser241Cys US rs28934573 Sporadic cancers TP53 P04637 VAR_045218 p.Ser241Pro US rs1057520002 Sporadic cancers TP53 P04637 VAR_045219 p.Ser241Tyr US rs28934573 Sporadic cancers TP53 P04637 VAR_045220 p.Cys242Gly US rs1057519982 Sporadic cancers TP53 P04637 VAR_045221 p.Cys242Arg US - Sporadic cancers TP53 P04637 VAR_045222 p.Cys242Ser US rs121912655 Sporadic cancers TP53 P04637 VAR_045223 p.Cys242Trp US rs375874539 Sporadic cancers TP53 P04637 VAR_045224 p.Cys242Tyr US rs121912655 A familial cancer not matching LFS TP53 P04637 VAR_045225 p.Met243Ile US - Sporadic cancers TP53 P04637 VAR_045226 p.Met243Lys US - Sporadic cancers TP53 P04637 VAR_045227 p.Met243Leu US rs786203117 Sporadic cancers TP53 P04637 VAR_045228 p.Met243Arg US - Sporadic cancers TP53 P04637 VAR_045229 p.Met243Thr US rs730882006 Sporadic cancers TP53 P04637 VAR_045230 p.Met243Val US rs786203117 Sporadic cancers TP53 P04637 VAR_045231 p.Gly244Cys US rs1057519989 Sporadic cancers TP53 P04637 VAR_045232 p.Gly244Asp LP/P rs1057517983 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045233 p.Gly244Glu US - A sporadic cancer TP53 P04637 VAR_045234 p.Gly244Arg US rs1057519989 Sporadic cancers TP53 P04637 VAR_045235 p.Gly244Ser US rs1057519989 Sporadic cancers TP53 P04637 VAR_045236 p.Gly244Val LP/P rs985033810 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045237 p.Gly245Glu US - A sporadic cancer TP53 P04637 VAR_045238 p.Gly245Arg US rs28934575 Sporadic cancers TP53 P04637 VAR_045239 p.Met246Ile US rs1019340046 Sporadic cancers TP53 P04637 VAR_045240 p.Met246Lys US - Sporadic cancers TP53 P04637 VAR_045241 p.Asn247Asp US rs1452189221 Sporadic cancers TP53 P04637 VAR_045242 p.Asn247Lys US - Sporadic cancers TP53 P04637 VAR_045243 p.Asn247Ser US rs786201762 Sporadic cancers TP53 P04637 VAR_045244 p.Asn247Tyr US - Sporadic cancers TP53 P04637 VAR_045245 p.Arg248Cys US - A sporadic cancer TP53 P04637 VAR_045246 p.Arg248Pro US rs11540652 Sporadic cancers TP53 P04637 VAR_045247 p.Arg249Ile US - A sporadic cancer TP53 P04637 VAR_045248 p.Arg249Lys US rs587782329 Sporadic cancers TP53 P04637 VAR_045249 p.Arg249Thr US rs587782329 Sporadic cancers TP53 P04637 VAR_045250 p.Arg249Trp US rs587782082 Sporadic cancers TP53 P04637 VAR_045251 p.Pro250Ala US - Sporadic cancers TP53 P04637 VAR_045252 p.Pro250His US - Sporadic cancers TP53 P04637 VAR_045253 p.Pro250Gln US - Sporadic cancers TP53 P04637 VAR_045254 p.Pro250Ser US - Sporadic cancers TP53 P04637 VAR_045255 p.Pro250Thr US - Sporadic cancers TP53 P04637 VAR_045256 p.Ile251Phe US - Sporadic cancers TP53 P04637 VAR_045257 p.Ile251Leu US rs730882007 Sporadic cancers TP53 P04637 VAR_045258 p.Ile251Met LP/P rs878854074 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045259 p.Ile251Thr US - Sporadic cancers TP53 P04637 VAR_045260 p.Ile251Val US - Sporadic cancers TP53 P04637 VAR_045261 p.Leu252Phe US - Sporadic cancers TP53 P04637 VAR_045262 p.Leu252His US - A sporadic cancer TP53 P04637 VAR_045263 p.Leu252Ile US - Sporadic cancers TP53 P04637 VAR_045264 p.Leu252Val US - A sporadic cancer TP53 P04637 VAR_045265 p.Thr253Ala US - Sporadic cancers TP53 P04637 VAR_045266 p.Thr253Ile US - Sporadic cancers TP53 P04637 VAR_045267 p.Thr253Asn US rs1555525465 Sporadic cancers TP53 P04637 VAR_045268 p.Thr253Ser US - Sporadic cancers TP53 P04637 VAR_045269 p.Ile254Phe US - A sporadic cancer TP53 P04637 VAR_045270 p.Ile254Leu US - A sporadic cancer TP53 P04637 VAR_045271 p.Ile254Met US - A sporadic cancer TP53 P04637 VAR_045272 p.Ile254Ser US rs1330865474 Sporadic cancers TP53 P04637 VAR_045273 p.Ile254Val US rs746601313 Sporadic cancers TP53 P04637 VAR_045274 p.Ile255Phe US rs1057519995 Sporadic cancers TP53 P04637 VAR_045275 p.Ile255Met US - Sporadic cancers TP53 P04637 VAR_045276 p.Ile255Asn US rs876659675 Sporadic cancers TP53 P04637 VAR_045277 p.Ile255Ser US rs876659675 Sporadic cancers TP53 P04637 VAR_045278 p.Ile255Thr US rs876659675 Sporadic cancers TP53 P04637 VAR_045279 p.Ile255Val US - Sporadic cancers TP53 P04637 VAR_045280 p.Thr256Ile US - A brain tumor with no family history TP53 P04637 VAR_045281 p.Thr256Lys US - Sporadic cancers TP53 P04637 VAR_045282 p.Thr256Pro US - Sporadic cancers TP53 P04637 VAR_045283 p.Thr256Ser US - Sporadic cancers TP53 P04637 VAR_045284 p.Leu257Gln LP/P rs28934577 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045285 p.Leu257Arg US rs28934577 Sporadic cancers TP53 P04637 VAR_045286 p.Leu257Val US - Sporadic cancers TP53 P04637 VAR_045287 p.Glu258Ala US - Sporadic cancers TP53 P04637 VAR_045288 p.Glu258Gly US rs1060501201 Sporadic cancers TP53 P04637 VAR_045289 p.Glu258Gln US - Sporadic cancers TP53 P04637 VAR_045290 p.Glu258Val US - Sporadic cancers TP53 P04637 VAR_045291 p.Asp259Glu US - Sporadic cancers TP53 P04637 VAR_045292 p.Asp259Gly US rs745425759 Sporadic cancers TP53 P04637 VAR_045293 p.Asp259His US - Sporadic cancers TP53 P04637 VAR_045294 p.Asp259Asn US - Sporadic cancers TP53 P04637 VAR_045295 p.Asp259Val US - Sporadic cancers TP53 P04637 VAR_045296 p.Ser260Ala US - Sporadic cancers TP53 P04637 VAR_045297 p.Ser260Cys US - Sporadic cancers TP53 P04637 VAR_045298 p.Ser260Phe US - Sporadic cancers TP53 P04637 VAR_045299 p.Ser260Pro US - Sporadic cancers TP53 P04637 VAR_045300 p.Ser260Thr US - A sporadic cancer TP53 P04637 VAR_045301 p.Ser260Tyr US rs876658916 Sporadic cancers TP53 P04637 VAR_045302 p.Ser261Cys US - A sporadic cancer TP53 P04637 VAR_045303 p.Ser261Gly US - Sporadic cancers TP53 P04637 VAR_045304 p.Ser261Ile US - Sporadic cancers TP53 P04637 VAR_045305 p.Ser261Asn US - A sporadic cancer TP53 P04637 VAR_045306 p.Ser261Arg US - Sporadic cancers TP53 P04637 VAR_045307 p.Gly262Cys US rs200579969 A sporadic cancer TP53 P04637 VAR_045308 p.Gly262Ser US rs200579969 Sporadic cancers TP53 P04637 VAR_045309 p.Gly262Val US rs1131691025 Sporadic cancers TP53 P04637 VAR_045310 p.Asn263Asp US rs72661119 Sporadic cancers TP53 P04637 VAR_045311 p.Asn263His US - Sporadic cancers TP53 P04637 VAR_045312 p.Asn263Ile US - Sporadic cancers TP53 P04637 VAR_045313 p.Asn263Lys US - A sporadic cancer TP53 P04637 VAR_045314 p.Asn263Ser US - A sporadic cancer TP53 P04637 VAR_045315 p.Leu264Ile US - Sporadic cancers TP53 P04637 VAR_045316 p.Leu264Pro US rs1555525353 A sporadic cancer TP53 P04637 VAR_045317 p.Leu264Gln US - A sporadic cancer TP53 P04637 VAR_045318 p.Leu264Arg US - Sporadic cancers TP53 P04637 VAR_045319 p.Leu264Val US - A sporadic cancer TP53 P04637 VAR_045320 p.Leu265Met US - Sporadic cancers TP53 P04637 VAR_045321 p.Leu265Pro LP/P rs879253942 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045322 p.Leu265Gln US - Sporadic cancers TP53 P04637 VAR_045323 p.Gly266Ala US - Sporadic cancers TP53 P04637 VAR_045324 p.Gly266Glu US rs193920774 Sporadic cancers TP53 P04637 VAR_045325 p.Gly266Arg US rs1057519990 Sporadic cancers TP53 P04637 VAR_045326 p.Gly266Val US rs193920774 Sporadic cancers TP53 P04637 VAR_045327 p.Arg267Gly US - Sporadic cancers TP53 P04637 VAR_045328 p.Arg267His US - A sporadic cancer TP53 P04637 VAR_045329 p.Arg267Pro US rs587780075 Sporadic cancers TP53 P04637 VAR_045330 p.Arg267Gln LP/P rs587780075 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045331 p.Asn268His US - Sporadic cancers TP53 P04637 VAR_045332 p.Asn268Ile US - Sporadic cancers TP53 P04637 VAR_045333 p.Asn268Lys US - A sporadic cancer TP53 P04637 VAR_045334 p.Asn268Ser US - Sporadic cancers TP53 P04637 VAR_045335 p.Asn268Tyr US - A sporadic cancer TP53 P04637 VAR_045336 p.Ser269Cys US - Sporadic cancers TP53 P04637 VAR_045337 p.Ser269Gly US - Sporadic cancers TP53 P04637 VAR_045338 p.Ser269Asn US - Sporadic cancers TP53 P04637 VAR_045339 p.Ser269Arg US - Sporadic cancers TP53 P04637 VAR_045340 p.Ser269Thr US - A sporadic cancer TP53 P04637 VAR_045341 p.Phe270Cys US rs1057519986 Sporadic cancers TP53 P04637 VAR_045342 p.Phe270Ile US rs1057519988 Sporadic cancers TP53 P04637 VAR_045343 p.Phe270Leu US rs1057519987 Sporadic cancers TP53 P04637 VAR_045344 p.Phe270Ser US rs1057519986 Sporadic cancers TP53 P04637 VAR_045345 p.Phe270Val US rs1057519988 Sporadic cancers TP53 P04637 VAR_045346 p.Phe270Tyr US - Sporadic cancers TP53 P04637 VAR_045347 p.Glu271Ala US - Sporadic cancers TP53 P04637 VAR_045348 p.Glu271Asp US - Sporadic cancers TP53 P04637 VAR_045349 p.Glu271Gly US - Sporadic cancers TP53 P04637 VAR_045350 p.Glu271Gln US - Sporadic cancers TP53 P04637 VAR_045351 p.Val272Ala US - A familial cancer not matching LFS TP53 P04637 VAR_045352 p.Val272Glu US rs876660333 Sporadic cancers TP53 P04637 VAR_045353 p.Val272Gly US rs876660333 Sporadic cancers TP53 P04637 VAR_045354 p.Val272Met US rs121912657 Sporadic cancers TP53 P04637 VAR_045355 p.Arg273Pro US rs28934576 Sporadic cancers TP53 P04637 VAR_045356 p.Arg273Gln US - Sporadic cancers TP53 P04637 VAR_045357 p.Arg273Ser US rs121913343 A familial cancer not matching LFS TP53 P04637 VAR_045358 p.Val274Ala US rs1057520006 Sporadic cancers TP53 P04637 VAR_045359 p.Val274Asp US rs1057520006 Sporadic cancers TP53 P04637 VAR_045360 p.Val274Ile US - Sporadic cancers TP53 P04637 VAR_045361 p.Val274Leu US rs1057520005 Sporadic cancers TP53 P04637 VAR_045362 p.Cys275Phe US rs863224451 Sporadic cancers TP53 P04637 VAR_045363 p.Cys275Gly US - Sporadic cancers TP53 P04637 VAR_045364 p.Cys275Arg US rs1057519983 Sporadic cancers TP53 P04637 VAR_045365 p.Cys275Ser US rs863224451 Sporadic cancers TP53 P04637 VAR_045366 p.Ala276Asp US rs786202082 Sporadic cancers TP53 P04637 VAR_045367 p.Ala276Gly US rs786202082 Sporadic cancers TP53 P04637 VAR_045368 p.Ala276Pro US rs1131691029 Sporadic cancers TP53 P04637 VAR_045369 p.Ala276Ser US - Sporadic cancers TP53 P04637 VAR_045370 p.Ala276Thr US - Sporadic cancers TP53 P04637 VAR_045371 p.Ala276Val US - Sporadic cancers TP53 P04637 VAR_045372 p.Cys277Phe US rs763098116 Sporadic cancers TP53 P04637 VAR_045373 p.Cys277Arg US rs1064795369 Sporadic cancers TP53 P04637 VAR_045374 p.Cys277Ser US - Sporadic cancers TP53 P04637 VAR_045375 p.Cys277Tyr US rs763098116 An osteosarcoma with no family history TP53 P04637 VAR_045376 p.Pro278Arg US rs876659802 Sporadic cancers TP53 P04637 VAR_045377 p.Gly279Arg US rs1555525248 Sporadic cancers TP53 P04637 VAR_045378 p.Gly279Val US - Sporadic cancers TP53 P04637 VAR_045379 p.Gly279Trp US - Sporadic cancers TP53 P04637 VAR_045380 p.Arg280Gly US rs753660142 Sporadic cancers TP53 P04637 VAR_045381 p.Arg280Pro US - A sporadic cancer TP53 P04637 VAR_045382 p.Arg280Ser US - Sporadic cancers TP53 P04637 VAR_045383 p.Asp281Tyr US rs764146326 Sporadic cancers TP53 P04637 VAR_045384 p.Arg282Gly LP/P rs28934574 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045385 p.Arg282His US - A sporadic cancer TP53 P04637 VAR_045386 p.Arg282Pro US rs730882008 Sporadic cancers TP53 P04637 VAR_045387 p.Arg282Gln US rs730882008 A familial cancer not matching LFS TP53 P04637 VAR_045388 p.Arg283Leu US - Sporadic cancers TP53 P04637 VAR_045389 p.Arg283Ser US rs149633775 A sporadic cancer TP53 P04637 VAR_045390 p.Thr284Ile US rs863224685 Sporadic cancers TP53 P04637 VAR_045391 p.Thr284Lys US - Sporadic cancers TP53 P04637 VAR_045392 p.Glu285Ala US - A sporadic cancer TP53 P04637 VAR_045393 p.Glu285Asp US - Sporadic cancers TP53 P04637 VAR_045394 p.Glu285Gly US - Sporadic cancers TP53 P04637 VAR_045395 p.Glu286Val US rs1057519985 Sporadic cancers TP53 P04637 VAR_045396 p.Glu287Asp US rs748891343 Sporadic cancers TP53 P04637 VAR_045397 p.Glu287Gly US - Sporadic cancers TP53 P04637 VAR_045398 p.Glu287Lys US rs587782006 Sporadic cancers TP53 P04637 VAR_045399 p.Glu287Val US - Sporadic cancers TP53 P04637 VAR_045400 p.Asn288Asp US - A sporadic cancer TP53 P04637 VAR_045401 p.Asn288Lys US - Sporadic cancers TP53 P04637 VAR_045402 p.Asn288Ser US - Sporadic cancers TP53 P04637 VAR_045403 p.Asn288Thr US - Sporadic cancers TP53 P04637 VAR_045404 p.Asn288Tyr US - Sporadic cancers TP53 P04637 VAR_045405 p.Leu289Phe US - Sporadic cancers TP53 P04637 VAR_045406 p.Leu289His US - Sporadic cancers TP53 P04637 VAR_045407 p.Leu289Pro US - Sporadic cancers TP53 P04637 VAR_045408 p.Leu289Arg US - A sporadic cancer TP53 P04637 VAR_045409 p.Leu289Val US rs1555525154 Sporadic cancers TP53 P04637 VAR_045410 p.Arg290Cys US rs770374782 Sporadic cancers TP53 P04637 VAR_045411 p.Arg290His LP/P rs55819519 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045412 p.Arg290Leu LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045413 p.Lys291Glu US rs1555525126 Sporadic cancers TP53 P04637 VAR_045414 p.Lys291Met US - Sporadic cancers TP53 P04637 VAR_045415 p.Lys291Asn US rs372613518 Sporadic cancers TP53 P04637 VAR_045416 p.Lys291Arg US rs781490101 Sporadic cancers TP53 P04637 VAR_045417 p.Lys291Thr US - Sporadic cancers TP53 P04637 VAR_045418 p.Lys292Glu US - Sporadic cancers TP53 P04637 VAR_045419 p.Lys292Asn US - Sporadic cancers TP53 P04637 VAR_045420 p.Lys292Gln US - A sporadic cancer TP53 P04637 VAR_045421 p.Lys292Arg US rs121912663 Sporadic cancers TP53 P04637 VAR_045422 p.Lys292Thr US - Sporadic cancers TP53 P04637 VAR_045423 p.Gly293Ala US - A sporadic cancer TP53 P04637 VAR_045424 p.Gly293Arg US rs587780076 Sporadic cancers TP53 P04637 VAR_045425 p.Gly293Val US - Sporadic cancers TP53 P04637 VAR_045426 p.Gly293Trp US rs587780076 A brain tumor with no family history TP53 P04637 VAR_045427 p.Glu294Ala US - A sporadic cancer TP53 P04637 VAR_045428 p.Glu294Asp US rs1305324490 Sporadic cancers TP53 P04637 VAR_045429 p.Glu294Gly US - Sporadic cancers TP53 P04637 VAR_045430 p.Glu294Gln US - Sporadic cancers TP53 P04637 VAR_045431 p.Glu294Val US - Sporadic cancers TP53 P04637 VAR_045432 p.Pro295His US - A sporadic cancer TP53 P04637 VAR_045433 p.Pro295Leu US rs751713111 Sporadic cancers TP53 P04637 VAR_045434 p.Pro295Arg US rs751713111 A sporadic cancer TP53 P04637 VAR_045435 p.Pro295Ser US rs1131691006 Sporadic cancers TP53 P04637 VAR_045436 p.His296Asp US - Sporadic cancers TP53 P04637 VAR_045437 p.His296Asn US - Sporadic cancers TP53 P04637 VAR_045438 p.His296Gln US - Sporadic cancers TP53 P04637 VAR_045439 p.His296Arg US rs483352696 A sporadic cancer TP53 P04637 VAR_045440 p.His296Tyr US rs672601296 Sporadic cancers TP53 P04637 VAR_045441 p.His297Asp US - A sporadic cancer TP53 P04637 VAR_045442 p.His297Asn US - A sporadic cancer TP53 P04637 VAR_045443 p.His297Pro US - Sporadic cancers TP53 P04637 VAR_045444 p.His297Arg US rs876659477 Sporadic cancers TP53 P04637 VAR_045445 p.His297Tyr US - Sporadic cancers TP53 P04637 VAR_045446 p.Glu298Ala US - A sporadic cancer TP53 P04637 VAR_045447 p.Glu298Asp US - Sporadic cancers TP53 P04637 VAR_045448 p.Glu298Lys US rs201744589 Sporadic cancers TP53 P04637 VAR_045449 p.Glu298Gln US rs201744589 Sporadic cancers TP53 P04637 VAR_045450 p.Glu298Val US - Sporadic cancers TP53 P04637 VAR_045451 p.Leu299Pro US - Sporadic cancers TP53 P04637 VAR_045452 p.Leu299Gln US - Sporadic cancers TP53 P04637 VAR_045453 p.Leu299Arg US - A sporadic cancer TP53 P04637 VAR_045454 p.Leu299Val US - A sporadic cancer TP53 P04637 VAR_045455 p.Pro300Ala US - Sporadic cancers TP53 P04637 VAR_045456 p.Pro300Leu US rs909643864 Sporadic cancers TP53 P04637 VAR_045457 p.Pro300Ser US - Sporadic cancers TP53 P04637 VAR_045458 p.Pro301Ala US - Sporadic cancers TP53 P04637 VAR_045459 p.Pro301Gln US - Sporadic cancers TP53 P04637 VAR_045460 p.Pro301Ser US - Sporadic cancers TP53 P04637 VAR_045461 p.Gly302Ala US - A sporadic cancer TP53 P04637 VAR_045462 p.Gly302Arg US rs863224686 A sporadic cancer TP53 P04637 VAR_045463 p.Ser303Cys US - Sporadic cancers TP53 P04637 VAR_045464 p.Ser303Ile US - Sporadic cancers TP53 P04637 VAR_045465 p.Ser303Asn US rs876658714 Sporadic cancers TP53 P04637 VAR_045466 p.Ser303Thr US - Sporadic cancers TP53 P04637 VAR_045467 p.Thr304Ala US rs587782654 Sporadic cancers TP53 P04637 VAR_045468 p.Thr304Ile US - Sporadic cancers TP53 P04637 VAR_045469 p.Thr304Asn US - A sporadic cancer TP53 P04637 VAR_045470 p.Lys305Glu US - A sporadic cancer TP53 P04637 VAR_045471 p.Lys305Met US - A familial cancer not matching LFS TP53 P04637 VAR_045472 p.Lys305Asn US - Sporadic cancers TP53 P04637 VAR_045473 p.Lys305Arg US - Sporadic cancers TP53 P04637 VAR_045474 p.Lys305Thr US - A sporadic cancer TP53 P04637 VAR_045475 p.Arg306Pro LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045476 p.Ala307Pro US - A sporadic cancer TP53 P04637 VAR_045477 p.Ala307Ser US - Sporadic cancers TP53 P04637 VAR_045478 p.Leu308Met US - Sporadic cancers TP53 P04637 VAR_045479 p.Leu308Val US - A sporadic cancer TP53 P04637 VAR_045480 p.Pro309Arg US - A sporadic cancer TP53 P04637 VAR_045481 p.Asn310Ile US - A sporadic cancer TP53 P04637 VAR_045482 p.Asn310Thr US - Sporadic cancers TP53 P04637 VAR_045483 p.Asn311His US rs1555525007 Sporadic cancers TP53 P04637 VAR_045484 p.Asn311Lys US - A sporadic cancer TP53 P04637 VAR_045485 p.Asn311Ser US rs56184981 A sporadic cancer TP53 P04637 VAR_045486 p.Asn311Thr US rs56184981 Sporadic cancers TP53 P04637 VAR_045487 p.Thr312Ile US - Sporadic cancers TP53 P04637 VAR_045488 p.Thr312Ser US rs145151284 Sporadic cancers TP53 P04637 VAR_045489 p.Ser313Cys US - A sporadic cancer TP53 P04637 VAR_045490 p.Ser313Ile US - A sporadic cancer TP53 P04637 VAR_045491 p.Ser313Asn US - A sporadic cancer TP53 P04637 VAR_045492 p.Ser313Arg US rs1367492395 A sporadic cancer TP53 P04637 VAR_045493 p.Ser314Phe US rs751440465 A sporadic cancer TP53 P04637 VAR_045494 p.Ser315Cys US - A sporadic cancer TP53 P04637 VAR_045495 p.Ser315Phe US - A sporadic cancer TP53 P04637 VAR_045496 p.Ser315Pro US - A sporadic cancer TP53 P04637 VAR_045497 p.Pro316Leu US rs1555524979 A sporadic cancer TP53 P04637 VAR_045498 p.Pro316Thr US rs772773208 A sporadic cancer TP53 P04637 VAR_045499 p.Gln317His US rs1060501199 A kidney cancer with no family history TP53 P04637 VAR_045500 p.Gln317Lys US rs764735889 Sporadic cancers TP53 P04637 VAR_045501 p.Gln317Pro US - A sporadic cancer TP53 P04637 VAR_045502 p.Gln317Arg US rs1159579789 Sporadic cancers TP53 P04637 VAR_045503 p.Pro318Leu US rs1555524975 Sporadic cancers TP53 P04637 VAR_045504 p.Lys319Glu US - Sporadic cancers TP53 P04637 VAR_045505 p.Lys319Asn US - A sporadic cancer TP53 P04637 VAR_045506 p.Lys319Arg US - A sporadic cancer TP53 P04637 VAR_045507 p.Lys320Asn US - Sporadic cancers TP53 P04637 VAR_045508 p.Lys321Glu US - Kidney cancer TP53 P04637 VAR_045509 p.Lys321Arg US - A sporadic cancer TP53 P04637 VAR_045510 p.Pro322Leu US - Sporadic cancers TP53 P04637 VAR_045511 p.Pro322Arg US - Sporadic cancers TP53 P04637 VAR_045512 p.Leu323Met US - A sporadic cancer TP53 P04637 VAR_045513 p.Leu323Pro US - A sporadic cancer TP53 P04637 VAR_045514 p.Leu323Arg US - A sporadic cancer TP53 P04637 VAR_045515 p.Asp324Glu US - Sporadic cancers TP53 P04637 VAR_045516 p.Asp324Tyr US - A sporadic cancer TP53 P04637 VAR_045517 p.Gly325Ala US - A sporadic cancer TP53 P04637 VAR_045518 p.Gly325Glu US - Sporadic cancers TP53 P04637 VAR_045519 p.Glu326Gly US - A sporadic cancer TP53 P04637 VAR_045520 p.Tyr327His US - A sporadic cancer TP53 P04637 VAR_045521 p.Tyr327Ser US - A sporadic cancer TP53 P04637 VAR_045522 p.Phe328Leu US - A sporadic cancer TP53 P04637 VAR_045523 p.Phe328Ser US - Sporadic cancers TP53 P04637 VAR_045524 p.Phe328Val US - A sporadic cancer TP53 P04637 VAR_045525 p.Thr329Ile US rs969930693 A sporadic cancer TP53 P04637 VAR_045526 p.Thr329Ser US - A sporadic cancer TP53 P04637 VAR_045527 p.Leu330His US - Sporadic cancers TP53 P04637 VAR_045528 p.Leu330Arg US - Sporadic cancers TP53 P04637 VAR_045529 p.Gln331His US rs11575996 Sporadic cancers TP53 P04637 VAR_045530 p.Gln331Pro US - Sporadic cancers TP53 P04637 VAR_045531 p.Gln331Arg US rs1064795056 Sporadic cancers TP53 P04637 VAR_045532 p.Ile332Val US - A sporadic cancer TP53 P04637 VAR_045533 p.Gly334Trp US rs730882028 A sporadic cancer TP53 P04637 VAR_045534 p.Arg335Gly US - A sporadic cancer TP53 P04637 VAR_045535 p.Arg335His US rs771939956 A sporadic cancer TP53 P04637 VAR_045536 p.Arg335Leu US - A sporadic cancer TP53 P04637 VAR_045537 p.Arg337Leu US rs121912664 Sporadic cancers TP53 P04637 VAR_045538 p.Arg337Pro US rs121912664 Sporadic cancers TP53 P04637 VAR_045539 p.Phe338Ile US - A sporadic cancer TP53 P04637 VAR_045540 p.Phe338Leu US rs150293825 A sporadic cancer TP53 P04637 VAR_045541 p.Glu339Gln US rs17882252 A sporadic cancer TP53 P04637 VAR_045542 p.Phe341Cys US - Sporadic cancers TP53 P04637 VAR_045543 p.Arg342Leu US - A sporadic cancer TP53 P04637 VAR_045544 p.Arg342Pro US rs375338359 Sporadic cancers TP53 P04637 VAR_045545 p.Glu343Gly US - Sporadic cancers TP53 P04637 VAR_045546 p.Leu344Pro LP/P rs121912662 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045547 p.Leu344Arg US - A sporadic cancer TP53 P04637 VAR_045548 p.Glu346Ala US - A sporadic cancer TP53 P04637 VAR_045549 p.Ala347Gly US - A sporadic cancer TP53 P04637 VAR_045550 p.Ala347Thr US - Sporadic cancers TP53 P04637 VAR_045551 p.Leu348Phe US - A sporadic cancer TP53 P04637 VAR_045552 p.Leu348Ser US - A sporadic cancer TP53 P04637 VAR_045553 p.Glu349Asp US - A sporadic cancer TP53 P04637 VAR_045554 p.Asp352His US - A sporadic cancer TP53 P04637 VAR_045555 p.Ala353Thr US - A sporadic cancer TP53 P04637 VAR_045556 p.Gln354Glu US - A sporadic cancer TP53 P04637 VAR_045557 p.Gln354Lys US rs755394212 A sporadic cancer TP53 P04637 VAR_045558 p.Gly356Ala US - A sporadic cancer TP53 P04637 VAR_045559 p.Gly356Trp US - A sporadic cancer TP53 P04637 VAR_045560 p.Glu358Asp US - A sporadic cancer TP53 P04637 VAR_045561 p.Glu358Lys US rs587782237 A sporadic cancer TP53 P04637 VAR_045562 p.Gly360Ala LB/B rs35993958 - TP53 P04637 VAR_045563 p.Gly360Val US rs35993958 A sporadic cancer TP53 P04637 VAR_045564 p.Arg363Lys US rs876660285 A sporadic cancer TP53 P04637 VAR_045565 p.Ala364Pro US - A sporadic cancer TP53 P04637 VAR_045566 p.Ala364Thr US - A sporadic cancer TP53 P04637 VAR_045567 p.Ala364Val US - A sporadic cancer TP53 P04637 VAR_045568 p.His365Tyr US rs267605075 A familial cancer not matching LFS TP53 P04637 VAR_045569 p.Lys370Gln US - A sporadic cancer TP53 P04637 VAR_045570 p.Ser376Ala US - A sporadic cancer TP53 P04637 VAR_045571 p.Ser376Thr US - A sporadic cancer TP53 P04637 VAR_045572 p.Arg379His US rs863224682 Sporadic cancers TP53 P04637 VAR_045573 p.Phe385Leu US rs1555524094 A sporadic cancer TP53 P04637 VAR_045574 p.Gly389Trp US rs587783064 A sporadic cancer TP53 P04637 VAR_045575 p.Ser392Leu US - A sporadic cancer TP53 P04637 VAR_045783 p.Gly59Asn US - A sporadic cancer TP53 P04637 VAR_045784 p.Pro72Cys US rs730882014 Sporadic cancers TP53 P04637 VAR_045785 p.Pro72Gly US - Sporadic cancers TP53 P04637 VAR_045786 p.Pro72His US rs1042522 Sporadic cancers TP53 P04637 VAR_045787 p.Pro72Leu US - A sporadic cancer TP53 P04637 VAR_045788 p.Phe113Gly US - A sporadic cancer TP53 P04637 VAR_045789 p.Tyr126Gly US - A sporadic cancer TP53 P04637 VAR_045790 p.Lys132Leu US - A sporadic cancer TP53 P04637 VAR_045791 p.Lys132Trp US - A sporadic cancer TP53 P04637 VAR_045792 p.Cys135Thr US - A sporadic cancer TP53 P04637 VAR_045793 p.Cys141Ala US - A sporadic cancer TP53 P04637 VAR_045794 p.Pro142Phe US - Sporadic cancers TP53 P04637 VAR_045795 p.Pro153Phe US - A sporadic cancer TP53 P04637 VAR_045796 p.Gly154Ile US - Sporadic cancers TP53 P04637 VAR_045797 p.Arg158Phe US - A sporadic cancer TP53 P04637 VAR_045798 p.Arg158Tyr US - A sporadic cancer TP53 P04637 VAR_045799 p.Ala159Phe US rs730882022 A sporadic cancer TP53 P04637 VAR_045800 p.Ala161Phe US - A sporadic cancer TP53 P04637 VAR_045801 p.His168Val US - A sporadic cancer TP53 P04637 VAR_045802 p.Val173Trp US - A sporadic cancer TP53 P04637 VAR_045803 p.Pro177Phe US - Sporadic cancers TP53 P04637 VAR_045804 p.Pro177Ile US - A sporadic cancer TP53 P04637 VAR_045805 p.Gly187Asn US - A sporadic cancer TP53 P04637 VAR_045806 p.Ile195Tyr US - A sporadic cancer TP53 P04637 VAR_045807 p.Asn200Pro US - A sporadic cancer TP53 P04637 VAR_045808 p.Val203Trp US - A sporadic cancer TP53 P04637 VAR_045809 p.Asp208Ile US - A sporadic cancer TP53 P04637 VAR_045810 p.Ser215Lys US - Sporadic cancers TP53 P04637 VAR_045811 p.Val216Trp US - A sporadic cancer TP53 P04637 VAR_045812 p.Pro219Cys US - A sporadic cancer TP53 P04637 VAR_045844 p.Gly226Asn US - A sporadic cancer TP53 P04637 VAR_045845 p.Asp228Pro US - A sporadic cancer TP53 P04637 VAR_045846 p.Cys229Asn US - A sporadic cancer TP53 P04637 VAR_045847 p.Tyr234Lys US - A sporadic cancer TP53 P04637 VAR_045848 p.Tyr234Gln US - A sporadic cancer TP53 P04637 VAR_045849 p.Asn235Met US - A sporadic cancer TP53 P04637 VAR_045850 p.Cys238His US - A sporadic cancer TP53 P04637 VAR_045851 p.Gly245Phe US - Sporadic cancers TP53 P04637 VAR_045852 p.Gly245His US - A sporadic cancer TP53 P04637 VAR_045853 p.Gly245Leu US - Sporadic cancers TP53 P04637 VAR_045854 p.Gly245Asn US - Sporadic cancers TP53 P04637 VAR_045855 p.Asn247Phe US - A sporadic cancer TP53 P04637 VAR_045856 p.Arg249Asn US - A sporadic cancer TP53 P04637 VAR_045857 p.Pro250Phe US - Sporadic cancers TP53 P04637 VAR_045858 p.Pro250Asn US - Sporadic cancers TP53 P04637 VAR_045859 p.Ile254Asp US - Sporadic cancers TP53 P04637 VAR_045860 p.Glu258Leu US - A sporadic cancer TP53 P04637 VAR_045861 p.Asp259Pro US - A sporadic cancer TP53 P04637 VAR_045862 p.Asp259Ser US - A sporadic cancer TP53 P04637 VAR_045863 p.Gly262His US - A sporadic cancer TP53 P04637 VAR_045864 p.Asn268Phe US - A sporadic cancer TP53 P04637 VAR_045865 p.Glu271Pro US - A sporadic cancer TP53 P04637 VAR_045866 p.Glu271Arg US - A sporadic cancer TP53 P04637 VAR_045867 p.Arg273Asn US - A sporadic cancer TP53 P04637 VAR_045868 p.Arg273Tyr US - A sporadic cancer TP53 P04637 VAR_045869 p.Pro278Phe US - Sporadic cancers TP53 P04637 VAR_045870 p.Asp281Arg US - A sporadic cancer TP53 P04637 VAR_045871 p.Glu286Leu US - A sporadic cancer TP53 P04637 VAR_045872 p.Lys292Gly US - A sporadic cancer TP53 P04637 VAR_045873 p.His296Cys US - Sporadic cancers TP53 P04637 VAR_045874 p.Leu323Gly US - A sporadic cancer TP53 P04637 VAR_045875 p.Asp324Ser US - A sporadic cancer TP53 P04637 VAR_047169 p.Asp184Asn US rs72661117 Sporadic cancers TP53 P04637 VAR_047172 p.Ile195Leu US - A sporadic cancer TP53 P04637 VAR_047175 p.Tyr205Phe US rs1057520007 Sporadic cancers TP53 P04637 VAR_047177 p.His214Gln US rs587781386 Sporadic cancers TP53 P04637 VAR_047178 p.Val217Met LB/B rs35163653 - TP53 P04637 VAR_047179 p.Pro223Ala US - A sporadic cancer TP53 P04637 VAR_047180 p.Gly226Asp US - Sporadic cancers TP53 P04637 VAR_047181 p.His233Arg US rs879254233 Sporadic cancers TP53 P04637 VAR_047182 p.Asn235Asp US - An adrenocortical carcinoma with no family history TP53 P04637 VAR_047183 p.Ser241Thr LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_047186 p.Gly244Ala US rs985033810 Sporadic cancers TP53 P04637 VAR_047189 p.Asn247Thr US - Sporadic cancers TP53 P04637 VAR_047192 p.Pro250Leu US rs1064794311 Sporadic cancers TP53 P04637 VAR_047193 p.Thr253Pro US - Sporadic cancers TP53 P04637 VAR_047194 p.Asp259Ala US - A sporadic cancer TP53 P04637 VAR_047196 p.Gly262Asp US - Sporadic cancers TP53 P04637 VAR_047197 p.Leu265Arg US - Sporadic cancers TP53 P04637 VAR_047198 p.Ser269Ile US - A sporadic cancer TP53 P04637 VAR_047199 p.Glu271Val US - An osteosarcoma with no family history TP53 P04637 VAR_047200 p.Val274Gly US rs1057520006 Sporadic cancers TP53 P04637 VAR_047201 p.Cys277Trp US - Sporadic cancers TP53 P04637 VAR_047202 p.Asp281Asn LP/P rs764146326 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_047204 p.Glu287Ala US - A sporadic cancer TP53 P04637 VAR_047205 p.Lys291Gln US - Sporadic cancers TP53 P04637 VAR_047206 p.Glu294Lys US - Sporadic cancers TP53 P04637 VAR_047207 p.His296Leu US - Sporadic cancers TP53 P04637 VAR_047208 p.Pro301Thr US - A sporadic cancer TP53 P04637 VAR_047209 p.Thr304Ser US - A sporadic cancer TP53 P04637 VAR_047210 p.Gln317Leu US - A sporadic cancer TP53 P04637 VAR_047211 p.Leu323Val US rs1432281680 A sporadic cancer TP53 P04637 VAR_047212 p.Leu330Pro US - A sporadic cancer TP53 P04637 VAR_047213 p.Arg342Gln US rs375338359 Sporadic cancers TP53 P04637 VAR_047214 p.Gln354Arg US rs752142489 Sporadic cancers TP53 P04637 VAR_047215 p.His365Arg US - A sporadic cancer TP53AIP1 Q9HCN2 VAR_059735 p.Ala7Val LB/B rs35942033 - TP53BP1 Q12888 VAR_022172 p.Asp353Glu LB/B rs560191 - TP53BP1 Q12888 VAR_022173 p.Gly412Ser LB/B rs689647 - TP53BP1 Q12888 VAR_022174 p.Met648Val LB/B rs45443496 - TP53BP1 Q12888 VAR_022175 p.Gln699Arg LB/B rs34823068 - TP53BP1 Q12888 VAR_022176 p.Glu1014Gly LB/B rs45470395 - TP53BP1 Q12888 VAR_022177 p.Val1026Ala LB/B rs45482998 - TP53BP1 Q12888 VAR_022178 p.Lys1136Gln LB/B rs2602141 - TP53BP1 Q12888 VAR_022179 p.Ala1170Gly LB/B rs45500399 - TP53BP1 Q12888 VAR_022180 p.Ile1174Val LB/B rs3803339 - TP53BP1 Q12888 VAR_034558 p.Asp841Gly LB/B rs34185035 - TP53BP1 Q12888 VAR_034559 p.Glu1137Lys LB/B rs34740611 - TP53BP1 Q12888 VAR_034560 p.Arg1442Gln LB/B rs2230449 - TP53BP1 Q12888 VAR_038689 p.Gly1488Trp LB/B rs11554564 - TP53I3 Q53FA7 VAR_033032 p.Met180Lys US rs899619458 A breast cancer sample TP53I3 Q53FA7 VAR_048201 p.Glu223Lys LB/B rs35176319 - TP53INP1 Q96A56 VAR_051404 p.Cys75Arg LB/B rs11991800 - TP53RK Q96S44 VAR_014427 p.Ala25Thr LB/B - - TP53RK Q96S44 VAR_030870 p.Thr129Ala LB/B rs11550540 - TP53RK Q96S44 VAR_041881 p.Arg123Gln LB/B rs34983477 - TP53RK Q96S44 VAR_041882 p.Thr145Ala LB/B rs56008408 - TP53RK Q96S44 VAR_080371 p.Gly42Asp LP/P rs773814837 Galloway-Mowat syndrome 4 (GAMOS4) [MIM:617730] TP53RK Q96S44 VAR_080372 p.Thr81Arg LP/P rs1432218739 Galloway-Mowat syndrome 4 (GAMOS4) [MIM:617730] TP53RK Q96S44 VAR_080373 p.Arg243Leu LP/P rs776588426 Galloway-Mowat syndrome 4 (GAMOS4) [MIM:617730] TP53TG5 Q9Y2B4 VAR_051397 p.Arg57His LB/B rs2231616 - TP53TG5 Q9Y2B4 VAR_051398 p.Val172Ala LB/B rs2231619 - TP53TG5 Q9Y2B4 VAR_051399 p.Arg191His LB/B rs2231620 - TP53TG5 Q9Y2B4 VAR_051400 p.His219Gln LB/B rs2231622 - TP53TG5 Q9Y2B4 VAR_051401 p.Pro221Leu LB/B rs2231623 - TP53TG5 Q9Y2B4 VAR_051402 p.Val257Ala LB/B rs2231627 - TP53TG5 Q9Y2B4 VAR_051403 p.His275Asn LB/B rs2231628 - TP63 Q9H3D4 VAR_020866 p.Ser184Leu US - Head/neck cancer TP63 Q9H3D4 VAR_020867 p.Ala187Pro US - Lung carcinoma TP63 Q9H3D4 VAR_020868 p.Gln204Leu US - Cervical cancer TP63 Q9H3D4 VAR_020869 p.Lys233Glu LP/P rs121908838 Split-hand/foot malformation 4 (SHFM4) [MIM:605289] TP63 Q9H3D4 VAR_020870 p.Arg243Gln LP/P rs121908836 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_020871 p.Arg243Trp LP/P rs121908835 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_020872 p.Pro279His US - Colon cancer TP63 Q9H3D4 VAR_020873 p.Arg318His LP/P rs121908840 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_020873 p.Arg318His LP/P rs121908840 Rapp-Hodgkin syndrome (RHS) [MIM:129400] TP63 Q9H3D4 VAR_020874 p.Arg319Cys LP/P rs121908839 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_020875 p.Arg337Gln LP/P rs113993967 Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285] TP63 Q9H3D4 VAR_020876 p.Arg343Gln LP/P rs121908841 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_020877 p.Cys345Arg LP/P rs121908837 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_020878 p.Asp351Gly LP/P rs121908844 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_020879 p.Leu553Phe LP/P rs121908842 Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260] TP63 Q9H3D4 VAR_020880 p.Ser560Ala US - Ovarian cancer TP63 Q9H3D4 VAR_020881 p.Cys561Gly LP/P rs121908843 Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260] TP63 Q9H3D4 VAR_032737 p.Lys232Glu LP/P rs1560274243 Split-hand/foot malformation 4 (SHFM4) [MIM:605289] TP63 Q9H3D4 VAR_032738 p.Arg266Gln LP/P rs121908849 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032739 p.Cys308Tyr LP/P - Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032740 p.Ser311Asn LP/P - Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032741 p.Arg318Cys LP/P rs1205536026 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032742 p.Arg318Gln LP/P - Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032743 p.Arg319His LP/P rs886039442 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032743 p.Arg319His LP/P rs886039442 Split-hand/foot malformation 4 (SHFM4) [MIM:605289] TP63 Q9H3D4 VAR_032744 p.Arg319Ser LP/P - Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032745 p.Arg343Trp LP/P rs886041251 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032746 p.Cys347Ser LP/P - Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032747 p.Pro348Ser LP/P - Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032748 p.Asp351His LP/P - Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_035126 p.Ser129Leu LB/B rs193287780 - TP63 Q9H3D4 VAR_035127 p.Arg352Gly LP/P rs121908847 Orofacial cleft 8 (OFC8) [MIM:618149] TP63 Q9H3D4 VAR_035128 p.Ile549Thr LP/P rs121908845 Rapp-Hodgkin syndrome (RHS) [MIM:129400] TP63 Q9H3D4 VAR_035129 p.Ser580Pro LP/P rs121908846 Rapp-Hodgkin syndrome (RHS) [MIM:129400] TP63 Q9H3D4 VAR_035130 p.Asp603His LB/B rs767906723 - TP63 Q9H3D4 VAR_088375 p.Tyr18Cys US - Premature ovarian failure 21 (POF21) [MIM:620311] TP63 Q9H3D4 VAR_088376 p.Arg97Pro US - Premature ovarian failure 21 (POF21) [MIM:620311] TP63 Q9H3D4 VAR_088377 p.Ser285Asn US - Premature ovarian failure 21 (POF21) [MIM:620311] TP63 Q9H3D4 VAR_088378 p.Thr538Ala US - Premature ovarian failure 21 (POF21) [MIM:620311] TP63 Q9H3D4 VAR_088379 p.Thr567Ile US - Premature ovarian failure 21 (POF21) [MIM:620311] TP63 Q9H3D4 VAR_088383 p.Arg643Gln LP/P - Premature ovarian failure 21 (POF21) [MIM:620311] TP63 Q9H3D4 VAR_088384 p.Leu646Pro LP/P - Premature ovarian failure 21 (POF21) [MIM:620311] TP63 Q9H3D4 VAR_088385 p.Arg647Cys LP/P - Premature ovarian failure 21 (POF21) [MIM:620311] TP63 Q9H3D4 VAR_088386 p.Arg655Gln LP/P - Premature ovarian failure 21 (POF21) [MIM:620311] TPCN2 Q8NHX9 VAR_030492 p.Lys376Arg LB/B rs3750965 - TPCN2 Q8NHX9 VAR_030493 p.Leu564Pro LB/B rs2376558 - TPCN2 Q8NHX9 VAR_030494 p.Gly734Glu LB/B rs3829241 - TPCN2 Q8NHX9 VAR_047956 p.Met484Leu LB/B rs35264875 - TPD52 P55327 VAR_061860 p.Asp52Tyr LB/B rs35099105 - TPD52L1 Q16890 VAR_034568 p.Arg62Lys LB/B rs6905231 - TPD52L3 Q96J77 VAR_033372 p.Phe118Leu LB/B rs3847262 - TPGS2 Q68CL5 VAR_027410 p.Arg47Cys LB/B rs2303507 - TPH2 Q8IWU9 VAR_026749 p.Arg441His LB/B rs120074175 - TPH2 Q8IWU9 VAR_046136 p.Pro206Ser LB/B rs17110563 - TPH2 Q8IWU9 VAR_058938 p.Leu36Pro LB/B rs199775778 - TPH2 Q8IWU9 VAR_058939 p.Leu36Val LB/B rs34115267 - TPH2 Q8IWU9 VAR_058940 p.Ser41Tyr LB/B rs78162420 - TPH2 Q8IWU9 VAR_058941 p.Arg55Cys LB/B rs75558144 - TPH2 Q8IWU9 VAR_058942 p.Arg303Trp LP/P rs120074176 Attention deficit-hyperactivity disorder 7 (ADHD7) [MIM:613003] TPH2 Q8IWU9 VAR_058943 p.Ala328Val LB/B rs2887147 - TPH2 Q8IWU9 VAR_058944 p.Asp479Glu LB/B rs7488262 - TPH2 Q8IWU9 VAR_065019 p.Arg433Gly US - - TPH2 Q8IWU9 VAR_065020 p.Gln468Arg LB/B rs1317926854 - TPH2 Q8IWU9 VAR_088473 p.Ala328Glu LB/B rs2887147 - TPI1 P60174 VAR_007534 p.Cys42Tyr LP/P rs121964848 Triosephosphate isomerase deficiency (TPID) [MIM:615512] TPI1 P60174 VAR_007535 p.Gly73Ala LP/P - Triosephosphate isomerase deficiency (TPID) [MIM:615512] TPI1 P60174 VAR_007536 p.Glu105Asp LP/P rs121964845 Triosephosphate isomerase deficiency (TPID) [MIM:615512] TPI1 P60174 VAR_007537 p.Gly123Arg LB/B rs121964846 - TPI1 P60174 VAR_007538 p.Val155Met LP/P rs188138723 Triosephosphate isomerase deficiency (TPID) [MIM:615512] TPI1 P60174 VAR_007539 p.Ile171Val LP/P rs121964849 Triosephosphate isomerase deficiency (TPID) [MIM:615512] TPI1 P60174 VAR_007540 p.Val232Met LP/P rs1555132614 Triosephosphate isomerase deficiency (TPID) [MIM:615512] TPI1 P60174 VAR_007541 p.Phe241Leu LP/P rs121964847 Triosephosphate isomerase deficiency (TPID) [MIM:615512] TPK1 Q9H3S4 VAR_067391 p.Leu40Pro LP/P rs387906936 Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:614458] TPK1 Q9H3S4 VAR_067392 p.Asn50His LP/P rs387906935 Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:614458] TPK1 Q9H3S4 VAR_067393 p.Asn219Ser LP/P rs371271054 Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:614458] TPM1 P09493 VAR_007601 p.Asp175Asn LP/P rs104894503 Cardiomyopathy, familial hypertrophic, 3 (CMH3) [MIM:115196] TPM1 P09493 VAR_007602 p.Glu180Gly LP/P rs104894502 Cardiomyopathy, familial hypertrophic, 3 (CMH3) [MIM:115196] TPM1 P09493 VAR_013135 p.Ala63Val LP/P rs199476306 Cardiomyopathy, familial hypertrophic, 3 (CMH3) [MIM:115196] TPM1 P09493 VAR_029452 p.Glu180Val LP/P rs104894502 Cardiomyopathy, familial hypertrophic, 3 (CMH3) [MIM:115196] TPM1 P09493 VAR_043986 p.Glu40Lys LP/P rs104894501 Cardiomyopathy, dilated, 1Y (CMD1Y) [MIM:611878] TPM1 P09493 VAR_043987 p.Glu54Lys LP/P rs104894505 Cardiomyopathy, dilated, 1Y (CMD1Y) [MIM:611878] TPM1 P09493 VAR_070121 p.Glu192Lys LP/P rs199476315 Left ventricular non-compaction 9 (LVNC9) [MIM:611878] TPM1 P09493 VAR_070122 p.Lys248Glu LP/P rs199476319 Left ventricular non-compaction 9 (LVNC9) [MIM:611878] TPM2 P07951 VAR_013468 p.Glu117Ala LP/P - Congenital myopathy 23 (CMYP23) [MIM:609285] TPM2 P07951 VAR_013469 p.Gln147Pro LP/P rs104894128 Congenital myopathy 23 (CMYP23) [MIM:609285] TPM2 P07951 VAR_016086 p.Arg91Gly LP/P rs104894127 Arthrogryposis, distal, 1A (DA1A) [MIM:108120] TPM2 P07951 VAR_052402 p.Glu273Lys LB/B rs3180843 - TPM2 P07951 VAR_070978 p.Glu41Lys LP/P rs137853306 Congenital myopathy 23 (CMYP23) [MIM:609285] TPM2 P07951 VAR_070981 p.Arg133Trp LP/P rs137853305 Arthrogryposis, distal, 1A (DA1A) [MIM:108120] TPM2 P07951 VAR_070981 p.Arg133Trp LP/P rs137853305 Arthrogryposis, distal, 2B4 (DA2B4) [MIM:108120] TPM2 P07951 VAR_070981 p.Arg133Trp LP/P rs137853305 Congenital myopathy 23 (CMYP23) [MIM:609285] TPM2 P07951 VAR_070983 p.Asn202Lys LP/P rs137853307 Congenital myopathy 23 (CMYP23) [MIM:609285] TPM2 P07951 VAR_071485 p.Asp2Val LP/P rs199476145 Congenital myopathy 23 (CMYP23) [MIM:609285] TPM2 P07951 VAR_071486 p.Ala3Gly LP/P - Congenital myopathy 23 (CMYP23) [MIM:609285] TPM2 P07951 VAR_071488 p.Asp14Val LP/P rs1825151618 Congenital myopathy 23 (CMYP23) [MIM:609285] TPM2 P07951 VAR_071489 p.Gln93His LP/P rs727504180 Congenital myopathy 23 (CMYP23) [MIM:609285] TPM2 P07951 VAR_071490 p.Gln93Arg LP/P rs199476151 Arthrogryposis, distal, 1A (DA1A) [MIM:108120] TPM2 P07951 VAR_071491 p.Glu117Lys LP/P rs104894129 Arthrogryposis, distal, 1A (DA1A) [MIM:108120] TPM2 P07951 VAR_071491 p.Glu117Lys LP/P rs104894129 Congenital myopathy 23 (CMYP23) [MIM:609285] TPM2 P07951 VAR_071492 p.Lys128Glu LP/P rs1563929143 Congenital myopathy 23 (CMYP23) [MIM:609285] TPM2 P07951 VAR_071493 p.Arg133Pro LP/P rs199476152 Congenital myopathy 23 (CMYP23) [MIM:609285] TPM2 P07951 VAR_071494 p.Leu143Pro LP/P - Congenital myopathy 23 (CMYP23) [MIM:609285] TPM2 P07951 VAR_071495 p.Leu148Pro LP/P - Congenital myopathy 23 (CMYP23) [MIM:609285] TPM2 P07951 VAR_071496 p.Ala155Thr LP/P rs1563929039 Congenital myopathy 23 (CMYP23) [MIM:609285] TPM2 P07951 VAR_071498 p.Tyr261Cys LP/P rs1824676022 Arthrogryposis, distal, 1A (DA1A) [MIM:108120] TPM2 P07951 VAR_071498 p.Tyr261Cys LP/P rs1824676022 Congenital myopathy 23 (CMYP23) [MIM:609285] TPM2 P07951 VAR_082273 p.Gln103Arg US rs1563929383 Arthrogryposis, distal, 2B4 (DA2B4) [MIM:108120] TPM3 P06753 VAR_013460 p.Met9Arg LP/P rs80358247 Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] TPM3 P06753 VAR_070066 p.Leu100Met LP/P rs121964853 Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] TPM3 P06753 VAR_070067 p.Arg168Cys LP/P rs121964854 Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] TPM3 P06753 VAR_070068 p.Arg168Gly LP/P rs121964854 Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] TPM3 P06753 VAR_070069 p.Arg168His LP/P rs121964852 Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] TPM3 P06753 VAR_070070 p.Lys169Glu LP/P rs199474715 Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] TPM3 P06753 VAR_070071 p.Arg245Gly LP/P rs199474718 Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] TPM3 P06753 VAR_071499 p.Ala4Val LP/P rs199474711 Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] TPM3 P06753 VAR_071500 p.Ser88Phe LP/P - Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] TPM3 P06753 VAR_071501 p.Arg91Cys LB/B rs1571418855 - TPM3 P06753 VAR_071502 p.Arg91Pro LP/P rs199474713 Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] TPM3 P06753 VAR_071503 p.Leu100Val LP/P rs121964853 Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] TPM3 P06753 VAR_071504 p.Leu149Ile LP/P - Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] TPM3 P06753 VAR_071505 p.Glu151Ala LP/P - Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] TPM3 P06753 VAR_071506 p.Glu174Ala LP/P rs199474716 Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] TPM3 P06753 VAR_071507 p.Glu241Lys LP/P rs199474717 Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] TPM3 P06753 VAR_071508 p.Arg245Ile LP/P rs797046047 Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] TPM3 P06753 VAR_071509 p.Thr253Lys LB/B rs1553248515 - TPM4 P67936 VAR_036535 p.Glu204Gln US - A breast cancer sample TPMT P51580 VAR_005636 p.Leu49Ser LB/B rs72552740 - TPMT P51580 VAR_005637 p.Ala80Pro LB/B rs1800462 - TPMT P51580 VAR_005638 p.Ala154Thr LB/B rs1800460 - TPMT P51580 VAR_005639 p.Tyr180Phe LB/B rs75543815 - TPMT P51580 VAR_005640 p.His227Gln LB/B rs72552736 - TPMT P51580 VAR_005641 p.Tyr240Cys LB/B rs1142345 - TPMT P51580 VAR_008715 p.Arg215His LB/B rs56161402 - TPMT P51580 VAR_052368 p.Gln179His LB/B rs6921269 - TPO P07202 VAR_006057 p.Ala257Ser LB/B rs4927611 - TPO P07202 VAR_006058 p.Ala373Ser LB/B rs2280132 - TPO P07202 VAR_006059 p.Ser398Thr LB/B rs2175977 - TPO P07202 VAR_006060 p.Tyr453Asp LP/P rs121908083 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_006061 p.Thr725Pro LB/B rs732609 - TPO P07202 VAR_006062 p.Glu799Lys LP/P rs121908085 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_013138 p.Arg648Gln LP/P rs121908086 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_015375 p.Ile447Phe LP/P rs104893669 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021622 p.Ala53Pro LP/P - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021623 p.Asp240Asn LP/P rs1427024341 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021624 p.Asn307Thr LP/P - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021625 p.Ala326Thr LP/P rs371367459 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021626 p.Val433Met LP/P rs1035791118 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021627 p.Leu458Pro LP/P rs1231870370 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021628 p.Arg491His LP/P rs201165648 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021629 p.Gly493Ser LP/P rs778515113 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021630 p.Pro499Leu LP/P rs1169072188 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021631 p.Trp527Cys LP/P rs779434941 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021632 p.Gln660Glu LP/P rs121908088 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021633 p.Arg665Trp LP/P rs776742629 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021634 p.Arg693Trp LP/P rs121908087 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021635 p.Gly771Arg LP/P rs138931129 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021636 p.Asp796Tyr LP/P - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021637 p.Cys808Arg LP/P rs935058009 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_025784 p.Glu378Lys LP/P rs1297312788 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_027229 p.Gly533Cys LP/P - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_027231 p.Gly590Ser LP/P rs121908084 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_027232 p.Val618Met LB/B rs10189135 - TPO P07202 VAR_027233 p.Met706Val LB/B rs13431173 - TPO P07202 VAR_027234 p.Leu793Pro LB/B rs28991293 - TPO P07202 VAR_027235 p.Val839Ile LP/P rs146351101 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_027236 p.Arg846Trp LB/B rs28913014 - TPO P07202 VAR_027237 p.Val847Ala LB/B rs1126799 - TPO P07202 VAR_078336 p.Arg412His US rs1173922703 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPP1 O14773 VAR_005642 p.Arg175His LB/B rs764922748 - TPP1 O14773 VAR_005643 p.Cys365Arg LP/P rs119455953 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_005644 p.Cys365Tyr LP/P rs119455954 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_005645 p.Arg447His LP/P rs119455956 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009603 p.Gly77Arg LP/P rs121908195 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009604 p.Gln100Arg LB/B rs1800746 - TPP1 O14773 VAR_009605 p.Arg206Cys LP/P rs28940573 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009606 p.Ile287Asn LP/P rs121908196 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009607 p.Glu343Lys LP/P rs121908197 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009608 p.Val385Asp LP/P rs121908198 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009609 p.Gly389Glu LP/P rs121908199 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009610 p.Gln422His LP/P rs121908200 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009611 p.Ala454Glu LP/P rs121908201 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009612 p.Ser475Leu LP/P rs121908202 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016790 p.Arg127Gln LP/P rs121908204 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016791 p.Ser153Pro LP/P rs1554902028 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016792 p.Arg206His LP/P rs121908209 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016793 p.Val277Met LP/P rs121908207 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016794 p.Gln278Pro LP/P rs796053439 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016795 p.Gly284Val LP/P rs119455957 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016796 p.Asn286Ser LP/P rs119455958 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016797 p.Thr353Pro LP/P rs121908206 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016798 p.Lys428Asn LP/P - Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016799 p.Gly473Arg LP/P rs121908203 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016800 p.Phe481Cys LP/P - Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_037572 p.Ser62Leu LB/B rs2734715 - TPP1 O14773 VAR_037573 p.Arg185Cys LB/B rs34758634 - TPP1 O14773 VAR_058435 p.Gly482Arg LP/P rs121908208 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_063640 p.Pro202Leu LP/P rs121908205 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_063641 p.Pro544Ser LP/P rs121908210 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_066883 p.Ser62Thr LP/P - Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_066884 p.Tyr209His LP/P rs1218678626 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_066885 p.Arg266Gln LP/P rs757953998 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_066886 p.Arg339Gln LP/P rs765380155 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_066887 p.Ser382Arg LP/P - Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_066888 p.Ala448Val LP/P - Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_066889 p.Gly501Cys LP/P - Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_066890 p.Asn504Tyr LP/P - Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_066891 p.Trp548Arg LP/P rs1348967263 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_070917 p.Val466Gly LP/P rs398122959 Spinocerebellar ataxia, autosomal recessive, 7 (SCAR7) [MIM:609270] TPP1 O14773 VAR_072749 p.Gln278Arg LP/P rs796053439 Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] TPP2 P29144 VAR_085640 p.Cys28Gly US rs1879008406 - TPP2 P29144 VAR_085641 p.Gly500Asp LP/P rs1882325267 Immunodeficiency 78 with autoimmunity and developmental delay (IMD78) [MIM:619220] TPP2 P29144 VAR_085642 p.Thr676Ile US rs760347832 - TPPP2 P59282 VAR_059147 p.Arg133Leu LB/B rs9624 - TPR P12270 VAR_020429 p.Ser960Asn LB/B rs3753565 - TPR P12270 VAR_047289 p.Val1428Gly LB/B rs35550453 - TPR P12270 VAR_047290 p.Thr1707Ala LB/B rs35766045 - TPRKB Q9Y3C4 VAR_080355 p.Leu136Pro LP/P rs1553433412 Galloway-Mowat syndrome 5 (GAMOS5) [MIM:617731] TPRKB Q9Y3C4 VAR_080356 p.Tyr149Cys LP/P rs1233885358 Galloway-Mowat syndrome 5 (GAMOS5) [MIM:617731] TPSAB1 Q15661 VAR_014557 p.Ala18Val LB/B rs562518617 - TPSAB1 Q15661 VAR_014558 p.Gly23Val LB/B rs141519544 - TPSAB1 Q15661 VAR_014559 p.Ala85Thr LB/B rs201351744 - TPSAB1 Q15661 VAR_014560 p.Thr141Ala LB/B rs149113013 - TPSAB1 Q15661 VAR_014561 p.Asp162Asn LB/B rs143210825 - TPSAB1 Q15661 VAR_014562 p.Pro170Ser LB/B rs201345428 - TPSAB1 Q15661 VAR_014563 p.Thr215Ser LB/B rs2234905 - TPSAB1 Q15661 VAR_014564 p.Arg216Gln LB/B rs2234906 - TPSAB1 Q15661 VAR_016102 p.Asn132Lys LB/B rs144979264 - TPSAB1 Q15661 VAR_051830 p.His136Arg LB/B rs1064780 - TPSAB1 Q15661 VAR_064277 p.Asn3Ser LB/B rs371929937 - TPSAB1 Q15661 VAR_064278 p.Arg15Pro LB/B rs761476435 - TPSAB1 Q15661 VAR_064279 p.Arg28Gln LB/B rs146223687 - TPSAB1 Q15661 VAR_064280 p.Val29Ala LB/B rs112944038 - TPSAB1 Q15661 VAR_064281 p.His51Arg LB/B rs1060281 - TPSAB1 Q15661 VAR_064282 p.Gly52Asp LB/B rs17841227 - TPSAB1 Q15661 VAR_064283 p.Pro53Arg LB/B rs17841226 - TPSAB1 Q15661 VAR_064284 p.Val76Leu LB/B rs151324823 - TPSAB1 Q15661 VAR_064285 p.Thr115Ile LB/B rs199625169 - TPSAB1 Q15661 VAR_064286 p.Ala116Ile LB/B - - TPSAB1 Q15661 VAR_064287 p.Ile118Thr LB/B rs202044288 - TPSAB1 Q15661 VAR_064288 p.Val133Ile LB/B rs200334042 - TPSAB1 Q15661 VAR_064289 p.Thr141Met LB/B - - TPSAB1 Q15661 VAR_064290 p.Arg168Pro LB/B rs202156919 - TPSAB1 Q15661 VAR_064291 p.Val205Ile LB/B rs1060284 - TPSAB1 Q15661 VAR_064292 p.Gln221Lys LB/B rs201192435 - TPSAB1 Q15661 VAR_064293 p.Gly245Asp LB/B rs145402040 - TPSAB1 Q15661 VAR_064294 p.Tyr263Asn LB/B rs200355084 - TPSB2 P20231 VAR_088016 p.Arg51His LB/B rs752157957 - TPSB2 P20231 VAR_088017 p.Asp52Gly LB/B rs775724245 - TPSB2 P20231 VAR_088018 p.Arg53Pro LB/B rs200873299 - TPSD1 Q9BZJ3 VAR_016870 p.Pro22Arg LB/B rs3865205 - TPSD1 Q9BZJ3 VAR_016871 p.Val25Ala LB/B rs1800984 - TPSD1 Q9BZJ3 VAR_016872 p.Val83Met LB/B rs1141967 - TPSG1 Q9NRR2 VAR_012097 p.Val60Met LB/B rs760357 - TPSG1 Q9NRR2 VAR_012098 p.Ile126Met LB/B - - TPSG1 Q9NRR2 VAR_012099 p.Ser132Thr LB/B - - TPSG1 Q9NRR2 VAR_012100 p.Leu204Ile LB/B - - TPSG1 Q9NRR2 VAR_012101 p.Phe288Leu LB/B rs1004041 - TPSG1 Q9NRR2 VAR_025012 p.Trp160Ser LB/B rs4984638 - TPSG1 Q9NRR2 VAR_061773 p.Thr239Ile LB/B rs11248860 - TPT1 P13693 VAR_052273 p.Val146Phe LB/B rs3087989 - TPTE P56180 VAR_025400 p.Leu470Pro LB/B rs150482 - TPTE P56180 VAR_036516 p.Arg144Gln US rs144333919 A breast cancer sample TPTE P56180 VAR_057347 p.Arg195Gln LB/B rs1810856 - TPTE P56180 VAR_057348 p.Gly549Glu LB/B rs169758 - TPTE P56180 VAR_061895 p.Tyr482Ser LB/B rs9996 - TPTE P56180 VAR_065097 p.Lys386Glu LB/B rs212146 - TPTE2 Q6XPS3 VAR_047501 p.Val367Ile LB/B rs2497218 - TPTE2 Q6XPS3 VAR_057349 p.Ile444Val LB/B rs2497218 - TPX2 Q9ULW0 VAR_036269 p.Thr464Asn US - A colorectal cancer sample TRA P0DSE1 VAR_081650 p.Gly110Ala LB/B - - TRABD2A Q86V40 VAR_039920 p.Arg143His LB/B rs1863772 - TRABD2A Q86V40 VAR_039921 p.Arg428Gln LB/B rs2288352 - TRABD2A Q86V40 VAR_039922 p.Pro430Leu LB/B rs1649292 - TRAF1 Q13077 VAR_054161 p.Met139Thr LB/B rs113495277 - TRAF3 Q13114 VAR_052149 p.Met129Thr LB/B rs1131877 - TRAF3 Q13114 VAR_069081 p.Arg118Trp LP/P rs143813189 Encephalopathy, acute, infection-induced, 5, herpes-specific (IIAE5) [MIM:614849] TRAF3IP1 Q8TDR0 VAR_034841 p.Asn228Ser LB/B rs3769110 - TRAF3IP1 Q8TDR0 VAR_034842 p.Arg239Trp LB/B rs34723381 - TRAF3IP1 Q8TDR0 VAR_034843 p.Met620Leu LB/B rs3739070 - TRAF3IP1 Q8TDR0 VAR_051185 p.Lys295Asn LB/B rs12464423 - TRAF3IP1 Q8TDR0 VAR_061685 p.Thr416Ser LB/B rs58277463 - TRAF3IP1 Q8TDR0 VAR_075068 p.Ile17Ser LP/P - Senior-Loken syndrome 9 (SLSN9) [MIM:616629] TRAF3IP1 Q8TDR0 VAR_075069 p.Val125Ala LP/P rs886037896 Senior-Loken syndrome 9 (SLSN9) [MIM:616629] TRAF3IP1 Q8TDR0 VAR_075070 p.Val125Met LP/P rs886037898 Senior-Loken syndrome 9 (SLSN9) [MIM:616629] TRAF3IP1 Q8TDR0 VAR_075071 p.Met520Arg LP/P rs750055952 Senior-Loken syndrome 9 (SLSN9) [MIM:616629] TRAF3IP2 O43734 VAR_024307 p.His332Gln LB/B rs1043730 - TRAF3IP2 O43734 VAR_031227 p.Arg83Trp LB/B rs13190932 - TRAF3IP2 O43734 VAR_047349 p.Asp19Asn LB/B rs33980500 - TRAF3IP2 O43734 VAR_070904 p.Thr536Ile LP/P rs397518485 Candidiasis, familial, 8 (CANDF8) [MIM:615527] TRAF3IP3 Q9Y228 VAR_024283 p.Gln373Glu LB/B rs669694 - TRAF3IP3 Q9Y228 VAR_035664 p.Pro529Ser US - A colorectal cancer sample TRAF4 Q9BUZ4 VAR_025805 p.Ala173Thr LB/B rs35932778 - TRAF4 Q9BUZ4 VAR_052150 p.Arg178Gly LB/B rs1044066 - TRAF5 O00463 VAR_020117 p.Asn186His LB/B rs2271458 - TRAF5 O00463 VAR_052151 p.Val120Gly LB/B rs3946808 - TRAF5 O00463 VAR_052152 p.Leu358Val LB/B rs2230780 - TRAF5 O00463 VAR_071060 p.His268Tyr LB/B rs200398415 - TRAF7 Q6Q0C0 VAR_081685 p.Lys346Glu LP/P rs1567252467 Cardiac, facial, and digital anomalies with developmental delay (CAFDADD) [MIM:618164] TRAF7 Q6Q0C0 VAR_081686 p.Arg371Gly LP/P rs1567252659 Cardiac, facial, and digital anomalies with developmental delay (CAFDADD) [MIM:618164] TRAF7 Q6Q0C0 VAR_081687 p.Thr601Ala LP/P rs1567254067 Cardiac, facial, and digital anomalies with developmental delay (CAFDADD) [MIM:618164] TRAF7 Q6Q0C0 VAR_081688 p.Arg655Gln LP/P rs1331463984 Cardiac, facial, and digital anomalies with developmental delay (CAFDADD) [MIM:618164] TRAIP Q9BWF2 VAR_076530 p.Arg18Cys LP/P rs864622784 Seckel syndrome 9 (SCKL9) [MIM:616777] TRAK1 Q9UPV9 VAR_081639 p.Leu329Pro US rs770281448 Developmental and epileptic encephalopathy 68 (DEE68) [MIM:618201] TRAK2 O60296 VAR_014201 p.Val142Ile LB/B rs13022344 - TRAK2 O60296 VAR_014434 p.Thr528Ile LB/B rs2244438 - TRAK2 O60296 VAR_051458 p.Ile863Asn LB/B rs34594680 - TRANK1 O15050 VAR_046117 p.Pro703Leu LB/B rs17201603 - TRANK1 O15050 VAR_046118 p.Glu1090Gly LB/B rs11712950 - TRANK1 O15050 VAR_061021 p.Pro153Leu LB/B rs17201603 - TRAP1 Q12931 VAR_016108 p.Arg307Gly LB/B rs13926 - TRAP1 Q12931 VAR_049625 p.Asp395Glu LB/B rs1136948 - TRAP1 Q12931 VAR_049626 p.Arg692His LB/B rs2791 - TRAP1 Q12931 VAR_061272 p.Glu572Lys LB/B rs55766649 - TRAPPC1 Q9Y5R8 VAR_013028 p.Arg129Gly US rs200476704 A melanoma TRAPPC10 P48553 VAR_009514 p.Val257Glu LB/B - - TRAPPC10 P48553 VAR_009515 p.Ile633Met LB/B rs915877 - TRAPPC10 P48553 VAR_009516 p.Val726Met LB/B rs2071152 - TRAPPC10 P48553 VAR_084045 p.Pro929Leu LP/P - Neurodevelopmental disorder with microcephaly, short stature, and speech delay (NEDMISS) [MIM:620027] TRAPPC11 Q7Z392 VAR_070158 p.Gly980Arg LP/P rs397509417 Muscular dystrophy, limb-girdle, autosomal recessive 18 (LGMDR18) [MIM:615356] TRAPPC11 Q7Z392 VAR_078126 p.Pro381Ala US - - TRAPPC11 Q7Z392 VAR_078127 p.Thr1104Ala US rs78663235 - TRAPPC11 Q7Z392 VAR_087914 p.Gln284Pro US - Muscular dystrophy, limb-girdle, autosomal recessive 18 (LGMDR18) [MIM:615356] TRAPPC12 Q8WVT3 VAR_028442 p.Ser301Gly LB/B rs11686212 - TRAPPC12 Q8WVT3 VAR_035869 p.Glu717Gln US - A breast cancer sample TRAPPC12 Q8WVT3 VAR_080390 p.Ala627Val US rs768950892 Encephalopathy, progressive, early-onset, with brain atrophy and spasticity (PEBAS) [MIM:617669] TRAPPC14 Q8WVR3 VAR_050817 p.Arg295His LB/B rs2293477 - TRAPPC2 P0DI81 VAR_012358 p.Asp47Tyr LP/P - Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400] TRAPPC2 P0DI81 VAR_012359 p.Ser73Leu LP/P rs769218264 Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400] TRAPPC2 P0DI81 VAR_012360 p.Val130Asp LP/P - Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400] TRAPPC2 P0DI81 VAR_012361 p.Phe83Ser LP/P rs104894948 Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400] TRAPPC2L Q9UL33 VAR_081978 p.Asp37Tyr LP/P rs766510287 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis (PEERB) [MIM:618331] TRAPPC4 Q9Y296 VAR_052397 p.Asp78Ala LB/B rs11640 - TRAPPC5 Q8IUR0 VAR_052398 p.Ser52Ala LB/B rs6952 - TRAPPC8 Q9Y2L5 VAR_036270 p.Arg537Gln US rs754569032 A breast cancer sample TRAPPC8 Q9Y2L5 VAR_057814 p.Asn74Ser LB/B rs34292533 - TRAPPC8 Q9Y2L5 VAR_057815 p.Gln708Glu LB/B rs16962530 - TRAPPC8 Q9Y2L5 VAR_057816 p.Ile1189Val LB/B rs36034613 - TRAPPC8 Q9Y2L5 VAR_060250 p.Leu137Ser LB/B rs6506948 - TRAPPC8 Q9Y2L5 VAR_060251 p.Ser517Gly LB/B rs17857486 - TRAPPC8 Q9Y2L5 VAR_060252 p.Arg954His LB/B rs2170562 - TRAPPC8 Q9Y2L5 VAR_060253 p.Thr1146Ala LB/B rs3737374 - TRAPPC8 Q9Y2L5 VAR_060254 p.Ser1298Pro LB/B rs633500 - TRARG1 Q8IXB3 VAR_029589 p.His3Tyr LB/B rs75616699 - TRARG1 Q8IXB3 VAR_029590 p.Pro15Ser LB/B rs111587833 - TRARG1 Q8IXB3 VAR_029591 p.Ala18Thr LB/B rs111701043 - TRARG1 Q8IXB3 VAR_029592 p.Phe20Ser LB/B rs6502774 - TRARG1 Q8IXB3 VAR_029593 p.Glu34Asp LB/B rs75025906 - TRARG1 Q8IXB3 VAR_029594 p.Ser57Gly LB/B rs6502776 - TRAT1 Q6PIZ9 VAR_062195 p.Asp137Gly LB/B rs57744779 - TRAT1 Q6PIZ9 VAR_062196 p.Ser148Pro LB/B rs61585973 - TRB P0DSE2 VAR_081651 p.Ile114Ser LB/B - - TRBV7-9 P04435 VAR_080347 p.Lys30Asn LB/B - - TRDMT1 O14717 VAR_051961 p.His101Tyr LB/B rs11254413 - TRDN Q13061 VAR_057008 p.Thr128Ser LB/B rs9490809 - TRDN Q13061 VAR_057009 p.Ser339Asn LB/B rs35766971 - TRDN Q13061 VAR_057010 p.Val404Gly LB/B rs28494009 - TRDN Q13061 VAR_057011 p.Asp419Glu LB/B rs17737379 - TRDN Q13061 VAR_057012 p.Leu470Met LB/B rs6569336 - TRDN Q13061 VAR_057013 p.Ile540Met LB/B rs7771303 - TRDN Q13061 VAR_065263 p.Leu201Val LB/B rs6902416 - TRDN Q13061 VAR_065264 p.Lys396Asn LB/B rs6901953 - TRDN Q13061 VAR_065265 p.Ile438Ser LB/B rs2873479 - TRDN Q13061 VAR_067350 p.Thr59Arg LP/P rs397515459 Cardiac arrhythmia syndrome, with or without skeletal muscle weakness (CARDAR) [MIM:615441] TREH O43280 VAR_049205 p.Thr389Ala LB/B rs2276065 - TREH O43280 VAR_049206 p.Tyr449His LB/B rs11827611 - TREH O43280 VAR_049207 p.Arg486Trp LB/B rs2276064 - TREH O43280 VAR_049208 p.Ala558Pro LB/B rs6589671 - TREH O43280 VAR_061191 p.Ala561Pro LB/B rs6589670 - TREM1 Q9NP99 VAR_019333 p.Thr25Ser LB/B rs2234237 - TREM1 Q9NP99 VAR_033624 p.Phe214Leu LB/B rs2234245 - TREM1 Q9NP99 VAR_035525 p.Arg97Ser US - A breast cancer sample TREM1 Q9NP99 VAR_049949 p.Lys135Thr LB/B rs34727391 - TREM2 Q9NZC2 VAR_019334 p.Asp134Gly US rs28939079 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (PLOSL2) [MIM:618193] TREM2 Q9NZC2 VAR_019335 p.Lys186Asn US rs28937876 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (PLOSL2) [MIM:618193] TREM2 Q9NZC2 VAR_033625 p.His157Tyr LB/B rs2234255 - TREM2 Q9NZC2 VAR_033626 p.Leu211Pro LB/B rs2234256 - TREM2 Q9NZC2 VAR_061329 p.Thr96Lys LB/B rs2234253 - TREM2 Q9NZC2 VAR_061330 p.Thr96Arg LB/B rs2234253 - TREM2 Q9NZC2 VAR_077696 p.Ala192Thr LB/B rs150277350 - TREM2 Q9NZC2 VAR_081680 p.Val126Gly LP/P rs121908402 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (PLOSL2) [MIM:618193] TREM2 Q9NZC2 VAR_081812 p.Val27Met US rs768745050 - TREM2 Q9NZC2 VAR_081813 p.Ala28Val US rs2234252 - TREM2 Q9NZC2 VAR_081814 p.Ser31Phe US rs746216516 - TREM2 Q9NZC2 VAR_081815 p.Tyr38Cys LB/B rs797044603 - TREM2 Q9NZC2 VAR_081816 p.Arg47Cys US rs753325601 - TREM2 Q9NZC2 VAR_081817 p.Arg47His US rs75932628 - TREM2 Q9NZC2 VAR_081818 p.Arg62His LB/B rs143332484 - TREM2 Q9NZC2 VAR_081819 p.Thr66Met LB/B rs201258663 - TREM2 Q9NZC2 VAR_081820 p.Asp87Asn LB/B rs142232675 - TREM2 Q9NZC2 VAR_081821 p.Ala130Ser US - - TREM2 Q9NZC2 VAR_081822 p.Arg136Gln US rs149622783 - TREM2 Q9NZC2 VAR_081823 p.Arg136Trp US rs772641807 - TREM2 Q9NZC2 VAR_081824 p.Glu151Lys US rs79011726 - TREM2 Q9NZC2 VAR_081825 p.Ser162Arg LB/B rs371702633 - TREM2 Q9NZC2 VAR_081826 p.Thr223Ile LB/B rs138355759 - TREML1 Q86YW5 VAR_035526 p.Leu6Val US - A breast cancer sample TREML1 Q86YW5 VAR_049950 p.His231Pro LB/B rs34254490 - TREML2 Q5T2D2 VAR_055418 p.Val50Met LB/B rs35512890 - TREML2 Q5T2D2 VAR_055419 p.Ser144Gly LB/B rs3747742 - TREML2 Q5T2D2 VAR_055420 p.Val285Ile LB/B rs35521209 - TREML2 Q5T2D2 VAR_059412 p.Gly19Cys LB/B rs4418164 - TREML4 Q6UXN2 VAR_035390 p.Trp73Arg LB/B rs9369265 - TREML4 Q6UXN2 VAR_035391 p.Thr146Lys LB/B rs9471515 - TREML4 Q6UXN2 VAR_035392 p.Thr168Ile LB/B rs7769759 - TRERF1 Q96PN7 VAR_050197 p.Thr431Ala LB/B rs35162277 - TRERF1 Q96PN7 VAR_050198 p.Cys834Ser LB/B rs2295275 - TRERF1 Q96PN7 VAR_050199 p.Asn1019Thr LB/B rs35978318 - TRERF1 Q96PN7 VAR_050200 p.Asp1187Asn LB/B rs11751765 - TRERF1 Q96PN7 VAR_061362 p.Val766Ile LB/B rs59159203 - TREX1 Q9NSU2 VAR_028319 p.Arg114His LP/P rs72556554 Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750] TREX1 Q9NSU2 VAR_028319 p.Arg114His LP/P rs72556554 Systemic lupus erythematosus (SLE) [MIM:152700] TREX1 Q9NSU2 VAR_028321 p.Val201Asp LP/P rs78408272 Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750] TREX1 Q9NSU2 VAR_032940 p.Asp200Asn LP/P rs78846775 Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750] TREX1 Q9NSU2 VAR_037948 p.Asp18Asn LP/P rs121908117 Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750] TREX1 Q9NSU2 VAR_037948 p.Asp18Asn LP/P rs121908117 Chilblain lupus 1 (CHBL1) [MIM:610448] TREX1 Q9NSU2 VAR_037949 p.Ala158Val LP/P rs762011967 Systemic lupus erythematosus (SLE) [MIM:152700] TREX1 Q9NSU2 VAR_037950 p.Gly227Ser LP/P rs113107733 Systemic lupus erythematosus (SLE) [MIM:152700] TREX1 Q9NSU2 VAR_037951 p.Arg240Ser LP/P rs72556555 Systemic lupus erythematosus (SLE) [MIM:152700] TREX1 Q9NSU2 VAR_037952 p.Ala247Pro LP/P rs112741962 Systemic lupus erythematosus (SLE) [MIM:152700] TREX1 Q9NSU2 VAR_037953 p.Glu266Gly LB/B rs55999987 - TREX1 Q9NSU2 VAR_037954 p.Pro290Leu LP/P rs148833270 Systemic lupus erythematosus (SLE) [MIM:152700] TREX1 Q9NSU2 VAR_037955 p.Tyr305Cys LP/P rs370504038 Systemic lupus erythematosus (SLE) [MIM:152700] TREX1 Q9NSU2 VAR_037956 p.Gly306Ala LP/P rs780022923 Systemic lupus erythematosus (SLE) [MIM:152700] TREX1 Q9NSU2 VAR_070899 p.Val122Ala LP/P rs79993407 Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750] TREX1 Q9NSU2 VAR_070900 p.Glu198Lys LP/P rs1416519719 Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750] TREX1 Q9NSU2 VAR_070901 p.Asp200His LP/P - Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750] TREX1 Q9NSU2 VAR_070901 p.Asp200His LP/P - Systemic lupus erythematosus (SLE) [MIM:152700] TREX1 Q9NSU2 VAR_070902 p.Thr303Pro LP/P rs76224909 Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750] TREX2 Q9BQ50 VAR_025211 p.Arg137Cys LB/B rs35132777 - TRH P20396 VAR_014787 p.Leu8Val LB/B rs5658 - TRHR P34981 VAR_011857 p.Asn10Lys LB/B rs5774 - TRHR P34981 VAR_049450 p.Ile168Met LB/B rs13306060 - TRHR P34981 VAR_083282 p.Pro81Arg LP/P - Hypothyroidism, congenital, non-goitrous, 7 (CHNG7) [MIM:618573] TRHR P34981 VAR_083284 p.Ile131Thr LP/P - Hypothyroidism, congenital, non-goitrous, 7 (CHNG7) [MIM:618573] TRIB1 Q96RU8 VAR_042364 p.Ser173Arg LB/B rs56285697 - TRIB1 Q96RU8 VAR_042365 p.Thr215Met LB/B rs34349706 - TRIB1 Q96RU8 VAR_042366 p.Val267Ile LB/B rs56056430 - TRIB1 Q96RU8 VAR_042367 p.Arg298Cys LB/B rs55953723 - TRIB1 Q96RU8 VAR_042368 p.Glu360Ala LB/B rs35454769 - TRIB1 Q96RU8 VAR_042369 p.Glu360Asp LB/B rs16900603 - TRIB1 Q96RU8 VAR_042370 p.Phe371Leu US - A lung large cell carcinoma sample TRIB2 Q92519 VAR_042371 p.His4Arg LB/B rs55813198 - TRIB3 Q96RU7 VAR_023965 p.Gln84Arg LB/B rs2295490 - TRIB3 Q96RU7 VAR_042372 p.Thr60Ile US rs757496714 A glioblastoma multiforme sample TRIB3 Q96RU7 VAR_042373 p.Arg153His LB/B rs35051116 - TRIB3 Q96RU7 VAR_042374 p.Arg274His LB/B rs56291463 - TRIB3 Q96RU7 VAR_042375 p.Glu347Lys LB/B rs56342286 - TRIL Q7L0X0 VAR_046307 p.Asn240Ser LB/B rs740250 - TRIL Q7L0X0 VAR_046308 p.Ala347Thr LB/B rs3735561 - TRIL Q7L0X0 VAR_046309 p.Gly369Asp LB/B rs3735562 - TRIL Q7L0X0 VAR_075695 p.Gly666Arg LB/B - - TRIM10 Q9UDY6 VAR_052127 p.Arg65His LB/B rs12212092 - TRIM10 Q9UDY6 VAR_052128 p.Val119Met LB/B rs17194446 - TRIM13 O60858 VAR_013512 p.Ser355Thr LB/B rs1056543 - TRIM14 Q14142 VAR_048399 p.Val219Met LB/B rs2296079 - TRIM15 Q9C019 VAR_014228 p.Ile29Val LB/B rs17194460 - TRIM15 Q9C019 VAR_052129 p.Ala42Thr LB/B rs17194467 - TRIM15 Q9C019 VAR_052130 p.Glu84Gln LB/B rs17194474 - TRIM15 Q9C019 VAR_052131 p.Leu235Val LB/B rs34823152 - TRIM15 Q9C019 VAR_052132 p.Ser324Asn LB/B rs929156 - TRIM16 O95361 VAR_017412 p.Glu121Asp LB/B rs2074890 - TRIM16 O95361 VAR_031668 p.Gly561Val LB/B rs1060903 - TRIM16 O95361 VAR_052133 p.Arg493Trp LB/B rs3174720 - TRIM2 Q9C040 VAR_070874 p.Glu227Val LP/P rs587777063 Charcot-Marie-Tooth disease, axonal, 2R (CMT2R) [MIM:615490] TRIM21 P19474 VAR_013749 p.Pro52Ala LB/B rs1042302 - TRIM21 P19474 VAR_013750 p.Gly96Arg LB/B rs2975162 - TRIM21 P19474 VAR_013751 p.Glu231Lys LB/B rs2554934 - TRIM21 P19474 VAR_061821 p.Gln88Lys LB/B rs58403334 - TRIM22 Q8IYM9 VAR_052134 p.Asp155Asn LB/B rs7935564 - TRIM22 Q8IYM9 VAR_052135 p.Thr232Ala LB/B rs2291843 - TRIM22 Q8IYM9 VAR_052136 p.Arg242Thr LB/B rs1063303 - TRIM22 Q8IYM9 VAR_052137 p.Arg321Lys LB/B rs12364019 - TRIM23 P36406 VAR_048320 p.Asp480Asn LB/B rs34046496 - TRIM24 O15164 VAR_042382 p.Ile320Thr US - An ovarian serous carcinoma sample TRIM24 O15164 VAR_042383 p.Thr403Asn US - A lung squamous cell carcinoma sample TRIM24 O15164 VAR_042384 p.Ser762Asn LB/B - - TRIM24 O15164 VAR_042385 p.Arg1009Ser LB/B rs34585297 - TRIM24 O15164 VAR_052148 p.Asn796Ser LB/B rs35356723 - TRIM25 Q14258 VAR_024614 p.Val89Gly LB/B rs7212260 - TRIM25 Q14258 VAR_024615 p.Pro358Leu LB/B rs205498 - TRIM26 Q12899 VAR_052138 p.Gln197His LB/B rs17194565 - TRIM28 Q13263 VAR_042386 p.Thr794Met LB/B rs56229738 - TRIM29 Q14134 VAR_035962 p.Ser514Phe US rs112973609 A breast cancer sample TRIM3 O75382 VAR_052124 p.Leu298Arg LB/B rs10128723 - TRIM31 Q9BZY9 VAR_019962 p.Glu421Lys LB/B rs1116221 - TRIM31 Q9BZY9 VAR_022728 p.Arg118Cys LB/B rs3734838 - TRIM31 Q9BZY9 VAR_022729 p.Val232Ile LB/B rs2523989 - TRIM31 Q9BZY9 VAR_052139 p.Pro17Arg LB/B rs36063651 - TRIM31 Q9BZY9 VAR_052140 p.Leu235Pro LB/B rs35775852 - TRIM32 Q13049 VAR_018725 p.Asp487Asn LP/P rs111033570 Muscular dystrophy, limb-girdle, autosomal recessive 8 (LGMDR8) [MIM:254110] TRIM32 Q13049 VAR_038807 p.Pro130Ser LP/P rs111033571 Bardet-Biedl syndrome 11 (BBS11) [MIM:615988] TRIM32 Q13049 VAR_038808 p.Thr257Arg LB/B rs3747834 - TRIM32 Q13049 VAR_038809 p.Arg408Cys LB/B rs3747835 - TRIM32 Q13049 VAR_042939 p.Arg394His LP/P rs121434447 Muscular dystrophy, limb-girdle, autosomal recessive 8 (LGMDR8) [MIM:254110] TRIM32 Q13049 VAR_066295 p.Arg299Gln US rs766439806 - TRIM33 Q9UPN9 VAR_024616 p.Ile840Thr LB/B rs6537825 - TRIM33 Q9UPN9 VAR_029494 p.Val67Ala LB/B rs6691166 - TRIM33 Q9UPN9 VAR_042376 p.Met580Ile US - A glioblastoma multiforme sample TRIM33 Q9UPN9 VAR_042377 p.Leu696Ser LB/B rs56151583 - TRIM33 Q9UPN9 VAR_042378 p.Glu811Lys US - A lung adenocarcinoma sample TRIM33 Q9UPN9 VAR_042379 p.Pro885Ser US - A glioblastoma multiforme sample TRIM33 Q9UPN9 VAR_042380 p.Val961Met LB/B rs55688622 - TRIM33 Q9UPN9 VAR_042381 p.Pro1090Thr LB/B rs55784699 - TRIM34 Q9BYJ4 VAR_019825 p.Thr276Ser LB/B rs6578670 - TRIM34 Q9BYJ4 VAR_019826 p.Asp282His LB/B rs3740997 - TRIM34 Q9BYJ4 VAR_052141 p.Asn404Lys LB/B rs16933844 - TRIM36 Q9NQ86 VAR_020490 p.Asp678Asn LB/B rs2974617 - TRIM36 Q9NQ86 VAR_023197 p.Lys428Arg LB/B rs79290430 - TRIM36 Q9NQ86 VAR_023198 p.Asn456Ser LB/B rs17137481 - TRIM36 Q9NQ86 VAR_057221 p.Gln725Glu LB/B rs3749745 - TRIM36 Q9NQ86 VAR_079581 p.Asp518Asn LP/P - Anencephaly 1 (ANPH1) [MIM:206500] TRIM37 O94972 VAR_052142 p.Val838Ile LB/B rs7222388 - TRIM37 O94972 VAR_060217 p.Leu76Pro LP/P rs386834004 Mulibrey nanism (MUL) [MIM:253250] TRIM37 O94972 VAR_060218 p.Thr108Ala LB/B rs17853504 - TRIM37 O94972 VAR_060219 p.Cys109Ser LP/P rs121908391 Mulibrey nanism (MUL) [MIM:253250] TRIM37 O94972 VAR_060220 p.Gly322Val LP/P rs386834009 Mulibrey nanism (MUL) [MIM:253250] TRIM37 O94972 VAR_075470 p.Gln432Arg LB/B rs1458302547 - TRIM38 O00635 VAR_013513 p.Gly421Arg LB/B rs10317 - TRIM4 Q9C037 VAR_046715 p.Pro367Ser LB/B rs35432946 - TRIM4 Q9C037 VAR_046716 p.Ser474Cys LB/B rs33998596 - TRIM40 Q6P9F5 VAR_055309 p.Lys142Gln LB/B rs12528473 - TRIM40 Q6P9F5 VAR_055310 p.Glu215Lys LB/B rs757259 - TRIM40 Q6P9F5 VAR_057222 p.Glu244Lys LB/B rs757259 - TRIM41 Q8WV44 VAR_027914 p.Ala78Thr LB/B rs6601178 - TRIM41 Q8WV44 VAR_027915 p.Asp438Gly LB/B rs2241371 - TRIM42 Q8IWZ5 VAR_034468 p.Val475Met LB/B rs28594654 - TRIM42 Q8IWZ5 VAR_034469 p.Ala579Glu LB/B rs9876490 - TRIM42 Q8IWZ5 VAR_052143 p.Lys244Arg LB/B rs698673 - TRIM44 Q96DX7 VAR_077852 p.Ser64Tyr LB/B rs377117775 - TRIM44 Q96DX7 VAR_077853 p.Gly155Arg LP/P rs886039241 Aniridia 3 (AN3) [MIM:617142] TRIM45 Q9H8W5 VAR_019931 p.Cys375Tyr LB/B rs749902 - TRIM45 Q9H8W5 VAR_019932 p.Arg413Gln LB/B rs3738413 - TRIM45 Q9H8W5 VAR_019933 p.Met496Thr LB/B rs1289658 - TRIM45 Q9H8W5 VAR_044128 p.Arg353Gln LB/B rs34863850 - TRIM47 Q96LD4 VAR_057223 p.Glu500Ala LB/B rs1047043 - TRIM49 P0CI25 VAR_061824 p.Gly373Arg LB/B rs12417980 - TRIM49B A6NDI0 VAR_042601 p.Leu398Met LB/B rs2696914 - TRIM5 Q9C035 VAR_017397 p.His43Tyr LB/B rs3740996 - TRIM5 Q9C035 VAR_017398 p.Arg136Gln LB/B rs10838525 - TRIM5 Q9C035 VAR_030154 p.Val112Phe LB/B rs11601507 - TRIM5 Q9C035 VAR_030155 p.Gly249Asp LB/B rs11038628 - TRIM5 Q9C035 VAR_030156 p.His419Tyr LB/B rs28381981 - TRIM5 Q9C035 VAR_030157 p.Pro479Leu LB/B rs7104422 - TRIM5 Q9C035 VAR_060707 p.Gly31Ser LB/B rs59896509 - TRIM5 Q9C035 VAR_060708 p.Cys58Tyr LB/B rs61432120 - TRIM5 Q9C035 VAR_060709 p.Gly110Glu LB/B rs56348930 - TRIM5 Q9C035 VAR_060710 p.Cys467Ser LB/B rs59218593 - TRIM50 Q86XT4 VAR_020491 p.Pro8Leu LB/B rs6980124 - TRIM50 Q86XT4 VAR_085709 p.Arg13Trp LB/B - - TRIM55 Q9BYV6 VAR_052144 p.Lys343Arg LB/B rs7843605 - TRIM55 Q9BYV6 VAR_074078 p.Cys50Tyr US - - TRIM55 Q9BYV6 VAR_074079 p.Ile54Val LB/B rs1320007526 - TRIM55 Q9BYV6 VAR_074080 p.Pro79Ala US rs769797275 - TRIM55 Q9BYV6 VAR_074081 p.Leu241Met US - - TRIM55 Q9BYV6 VAR_074082 p.Ser252Phe LB/B - - TRIM55 Q9BYV6 VAR_074083 p.Asn257Lys LB/B rs61741078 - TRIM55 Q9BYV6 VAR_074084 p.Val258Ile LB/B rs1279027783 - TRIM55 Q9BYV6 VAR_074085 p.Glu336Gln LB/B rs770907206 - TRIM55 Q9BYV6 VAR_074086 p.Pro392Thr US rs200545859 - TRIM55 Q9BYV6 VAR_074087 p.Thr418Ile LB/B - - TRIM55 Q9BYV6 VAR_074088 p.Lys452Asn US rs755876598 - TRIM55 Q9BYV6 VAR_074089 p.Pro458Leu LB/B - - TRIM55 Q9BYV6 VAR_074090 p.Ala488Thr LB/B rs770146015 - TRIM55 Q9BYV6 VAR_074091 p.Thr506Ser US rs781152511 - TRIM58 Q8NG06 VAR_030036 p.Trp3Ser LB/B rs11204523 - TRIM58 Q8NG06 VAR_030037 p.Val322Ile LB/B rs1339847 - TRIM58 Q8NG06 VAR_030038 p.Thr374Met LB/B rs3811444 - TRIM6 Q9C030 VAR_061823 p.Glu154Lys LB/B rs57856328 - TRIM63 Q969Q1 VAR_020116 p.Lys237Glu LB/B rs2275950 - TRIM63 Q969Q1 VAR_074092 p.Ser5Leu US rs762015648 - TRIM63 Q969Q1 VAR_074093 p.Ser61Arg LB/B - - TRIM63 Q969Q1 VAR_074094 p.Phe73Ser US rs758754060 - TRIM63 Q969Q1 VAR_074095 p.Arg86Cys US rs529429430 - TRIM63 Q969Q1 VAR_074096 p.Arg86His US rs1338320582 - TRIM63 Q969Q1 VAR_074097 p.Ile101Phe US - - TRIM63 Q969Q1 VAR_074098 p.Glu126Asp LB/B rs142601731 - TRIM63 Q969Q1 VAR_074099 p.Thr232Met US rs376414719 - TRIM63 Q969Q1 VAR_074100 p.Asp254Asn LB/B - - TRIM63 Q969Q1 VAR_074101 p.Met305Ile LB/B - - TRIM63 Q969Q1 VAR_074102 p.Ala318Asp US rs201397530 - TRIM63 Q969Q1 VAR_074103 p.Ala321Asp LB/B - - TRIM63 Q969Q1 VAR_074104 p.Gly351Arg LB/B rs202001619 - TRIM65 Q6PJ69 VAR_057224 p.Gly364Arg LB/B rs34593741 - TRIM65 Q6PJ69 VAR_057225 p.Gly366Ser LB/B rs9892938 - TRIM65 Q6PJ69 VAR_060245 p.Val222Gly LB/B rs7222757 - TRIM65 Q6PJ69 VAR_060246 p.Leu509Pro LB/B rs3760128 - TRIM68 Q6AZZ1 VAR_027415 p.Cys442Tyr LB/B rs2231975 - TRIM68 Q6AZZ1 VAR_063007 p.Arg457His LB/B rs2231976 - TRIM68 Q6AZZ1 VAR_063008 p.Tyr466Ser LB/B rs7109316 - TRIM69 Q86WT6 VAR_030704 p.Val31Ala LB/B rs3759880 - TRIM69 Q86WT6 VAR_057226 p.Asp12Asn LB/B rs2444007 - TRIM69 Q86WT6 VAR_057227 p.Asp15Asn LB/B rs2470911 - TRIM69 Q86WT6 VAR_057228 p.Lys104Arg LB/B rs17588988 - TRIM69 Q86WT6 VAR_057229 p.Thr161Met LB/B rs3100139 - TRIM69 Q86WT6 VAR_057230 p.Ala190Val LB/B rs3759880 - TRIM7 Q9C029 VAR_017399 p.Ala18Ser LB/B rs3857300 - TRIM7 Q9C029 VAR_017400 p.Pro73Ser LB/B rs2770946 - TRIM7 Q9C029 VAR_017401 p.Gln95Glu LB/B rs2770945 - TRIM7 Q9C029 VAR_052125 p.Val258Ala LB/B rs416574 - TRIM7 Q9C029 VAR_052126 p.Gly363Ser LB/B rs254460 - TRIM71 Q2Q1W2 VAR_083426 p.Arg608His LP/P rs1575362216 Hydrocephalus, congenital, 4 (HYC4) [MIM:618667] TRIM71 Q2Q1W2 VAR_083427 p.Arg796His LP/P rs1575362492 Hydrocephalus, congenital, 4 (HYC4) [MIM:618667] TRIM74 Q86UV6 VAR_039576 p.Trp13Arg LB/B rs121966 - TRIM9 Q9C026 VAR_016202 p.Leu653Phe LB/B rs2275462 - TRIML1 Q8N9V2 VAR_035963 p.Asp21His US - A breast cancer sample TRIML1 Q8N9V2 VAR_052145 p.Glu132Lys LB/B rs13131525 - TRIO O75962 VAR_041899 p.Ser291Thr LB/B rs55772118 - TRIO O75962 VAR_041900 p.Thr1644Met LB/B rs55687522 - TRIO O75962 VAR_041901 p.His1690Arg LB/B rs56292586 - TRIO O75962 VAR_041902 p.Val1978Met US - A metastatic melanoma sample TRIO O75962 VAR_041903 p.Thr2242Met LB/B rs55916212 - TRIO O75962 VAR_059802 p.Asp348Glu LB/B rs16903367 - TRIO O75962 VAR_059803 p.Ala1613Thr LB/B rs16903474 - TRIO O75962 VAR_069371 p.Asp1368Val US - - TRIO O75962 VAR_069372 p.Thr2563Met US rs751663099 - TRIO O75962 VAR_077093 p.Arg924Ser US rs772072746 Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) [MIM:617061] TRIO O75962 VAR_077094 p.Asn1080Ile LP/P rs879255628 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly (MRD63) [MIM:618825] TRIO O75962 VAR_077095 p.Tyr1238His US rs756004023 Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) [MIM:617061] TRIO O75962 VAR_077096 p.Arg1428Gln LP/P rs879255626 Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) [MIM:617061] TRIO O75962 VAR_077097 p.Pro1461Thr LP/P rs879255627 Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) [MIM:617061] TRIO O75962 VAR_077098 p.Ala1922Thr US - Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) [MIM:617061] TRIO O75962 VAR_077099 p.Ser1939Asn US - Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) [MIM:617061] TRIO O75962 VAR_077100 p.Leu2201Val US rs771342869 Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) [MIM:617061] TRIO O75962 VAR_077101 p.Glu2247Asp US rs1258664728 Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) [MIM:617061] TRIO O75962 VAR_077102 p.Arg2707Gln US rs768858988 Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) [MIM:617061] TRIO O75962 VAR_083916 p.Thr1075Ile LP/P - Intellectual developmental disorder, autosomal dominant 63, with macrocephaly (MRD63) [MIM:618825] TRIO O75962 VAR_083917 p.Arg1078Gly LP/P - Intellectual developmental disorder, autosomal dominant 63, with macrocephaly (MRD63) [MIM:618825] TRIO O75962 VAR_083918 p.Arg1078Gln LP/P - Intellectual developmental disorder, autosomal dominant 63, with macrocephaly (MRD63) [MIM:618825] TRIO O75962 VAR_083919 p.Arg1078Trp LP/P rs1554065887 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly (MRD63) [MIM:618825] TRIO O75962 VAR_083920 p.Glu1299Lys LP/P - Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) [MIM:617061] TRIO O75962 VAR_083921 p.Pro1461Leu LP/P - Intellectual developmental disorder, autosomal dominant 63, with macrocephaly (MRD63) [MIM:618825] TRIO O75962 VAR_083922 p.His1469Arg LP/P rs1554070777 Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) [MIM:617061] TRIOBP Q9H2D6 VAR_025719 p.Gly1019Arg LP/P rs549095193 Deafness, autosomal recessive, 28 (DFNB28) [MIM:609823] TRIOBP Q9H2D6 VAR_051412 p.Asn863Lys LB/B rs9610841 - TRIOBP Q9H2D6 VAR_051413 p.Glu1372Asp LB/B rs8140207 - TRIOBP Q9H2D6 VAR_051414 p.Trp1377Arg LB/B rs8140958 - TRIOBP Q9H2D6 VAR_059725 p.Ser217Asn LB/B rs12628603 - TRIOBP Q9H2D6 VAR_059726 p.Ser493Asn LB/B rs4821700 - TRIOBP Q9H2D6 VAR_059727 p.Phe1187Leu LB/B rs5756795 - TRIOBP Q9H2D6 VAR_059728 p.His1300Arg LB/B rs739138 - TRIOBP Q9H2D6 VAR_061708 p.Thr817Ser LB/B rs41302575 - TRIP11 Q15643 VAR_054151 p.Thr1846Ile LB/B rs141259390 - TRIP11 Q15643 VAR_055861 p.Met39Leu LB/B rs17127898 - TRIP11 Q15643 VAR_055862 p.Glu506Ala LB/B rs2273186 - TRIP11 Q15643 VAR_055863 p.Val795Leu LB/B rs34699762 - TRIP11 Q15643 VAR_055864 p.Asp884Gly LB/B rs34967261 - TRIP11 Q15643 VAR_055865 p.Ile1040Val LB/B rs34805848 - TRIP11 Q15643 VAR_055866 p.Met1503Val LB/B rs34839498 - TRIP11 Q15643 VAR_055867 p.Arg1576His LB/B rs35007347 - TRIP11 Q15643 VAR_055868 p.Glu1749Ala LB/B rs2273183 - TRIP11 Q15643 VAR_055869 p.Arg1752Lys LB/B rs11851376 - TRIP11 Q15643 VAR_060344 p.Glu1107Asp LB/B rs4619320 - TRIP11 Q15643 VAR_060345 p.Asp1413Ala LB/B rs12884523 - TRIP11 Q15643 VAR_060346 p.Gly1827Ser LB/B rs1051340 - TRIP11 Q15643 VAR_079175 p.Val559Ala LB/B - - TRIP11 Q15643 VAR_082011 p.Asp410Tyr LP/P rs1566863801 Odontochondrodysplasia 1 (ODCD1) [MIM:184260] TRIP11 Q15643 VAR_082017 p.Met1806Val LP/P rs1566843321 Odontochondrodysplasia 1 (ODCD1) [MIM:184260] TRIP12 Q14669 VAR_080431 p.Pro5Leu US rs1300458163 Clark-Baraitser syndrome (CLABARS) [MIM:617752] TRIP12 Q14669 VAR_080434 p.Ala761Val LP/P rs373429636 Clark-Baraitser syndrome (CLABARS) [MIM:617752] TRIP12 Q14669 VAR_080436 p.Asp1557His LP/P - Clark-Baraitser syndrome (CLABARS) [MIM:617752] TRIP12 Q14669 VAR_080437 p.Arg1595Gln LP/P rs1553602821 Clark-Baraitser syndrome (CLABARS) [MIM:617752] TRIP12 Q14669 VAR_080438 p.Ser1840Leu LP/P rs866079762 Clark-Baraitser syndrome (CLABARS) [MIM:617752] TRIP13 Q15645 VAR_084761 p.His26Arg LP/P rs780778324 Oocyte/zygote/embryo maturation arrest 9 (OZEMA9) [MIM:619011] TRIP13 Q15645 VAR_084762 p.Arg173Gln US rs759712974 Oocyte/zygote/embryo maturation arrest 9 (OZEMA9) [MIM:619011] TRIP13 Q15645 VAR_084763 p.Ile198Val US rs1754056948 Oocyte/zygote/embryo maturation arrest 9 (OZEMA9) [MIM:619011] TRIP13 Q15645 VAR_084764 p.Val247Met US rs1203102465 Oocyte/zygote/embryo maturation arrest 9 (OZEMA9) [MIM:619011] TRIP13 Q15645 VAR_084765 p.Glu303Lys US rs772834014 Oocyte/zygote/embryo maturation arrest 9 (OZEMA9) [MIM:619011] TRIP6 Q15654 VAR_013309 p.Leu296Phe LB/B rs17855370 - TRIP6 Q15654 VAR_050171 p.Val230Ile LB/B rs2075756 - TRIP6 Q15654 VAR_062262 p.Arg111Gln LB/B rs2437100 - TRIT1 Q9H3H1 VAR_020486 p.Phe202Leu LB/B rs3738671 - TRIT1 Q9H3H1 VAR_080746 p.Ile283Ser US rs199622789 Combined oxidative phosphorylation deficiency 35 (COXPD35) [MIM:617873] TRIT1 Q9H3H1 VAR_080747 p.Lys286Glu US rs1060505019 Combined oxidative phosphorylation deficiency 35 (COXPD35) [MIM:617873] TRIT1 Q9H3H1 VAR_080748 p.Arg323Gln LP/P rs1047420796 Combined oxidative phosphorylation deficiency 35 (COXPD35) [MIM:617873] TRIT1 Q9H3H1 VAR_080750 p.His419Pro US rs566435653 Combined oxidative phosphorylation deficiency 35 (COXPD35) [MIM:617873] TRIT1 Q9H3H1 VAR_085917 p.Glu409Lys US rs764506732 Combined oxidative phosphorylation deficiency 35 (COXPD35) [MIM:617873] TRMO Q9BU70 VAR_032527 p.Ser7Pro LB/B rs3183927 - TRMO Q9BU70 VAR_032528 p.Val252Ala LB/B rs35606344 - TRMO Q9BU70 VAR_032529 p.Val324Met LB/B rs2282192 - TRMT10A Q8TBZ6 VAR_037222 p.Pro82Gln US - A breast cancer sample TRMT10A Q8TBZ6 VAR_037223 p.Arg133Gln LB/B rs10007569 - TRMT10A Q8TBZ6 VAR_072420 p.Gly206Arg LP/P rs587777744 Microcephaly, short stature, and impaired glucose metabolism 1 (MSSGM1) [MIM:616033] TRMT10B Q6PF06 VAR_037224 p.Val234Gly LB/B rs36023446 - TRMT10B Q6PF06 VAR_037225 p.Val242Ala LB/B rs12337034 - TRMT10C Q7L0Y3 VAR_057355 p.Pro56Arg LB/B rs3762735 - TRMT10C Q7L0Y3 VAR_057356 p.Lys164Asn LB/B rs16844031 - TRMT10C Q7L0Y3 VAR_076993 p.Arg181Leu LP/P rs199730889 Combined oxidative phosphorylation deficiency 30 (COXPD30) [MIM:616974] TRMT10C Q7L0Y3 VAR_076994 p.Thr272Ala LP/P rs875989831 Combined oxidative phosphorylation deficiency 30 (COXPD30) [MIM:616974] TRMT11 Q7Z4G4 VAR_025786 p.Leu230Gln LB/B rs17854915 - TRMT12 Q53H54 VAR_031291 p.Trp28Arg LB/B rs3812475 - TRMT13 Q9NUP7 VAR_057806 p.Ala48Val LB/B rs687513 - TRMT2A Q8IZ69 VAR_033721 p.Ser602Arg LB/B rs447017 - TRMT2A Q8IZ69 VAR_035482 p.Pro604Ser US - A breast cancer sample TRMT2B Q96GJ1 VAR_037355 p.Ser12Arg LB/B rs7064613 - TRMT44 Q8IYL2 VAR_027515 p.Arg352Gly LB/B rs1880024 - TRMT44 Q8IYL2 VAR_066601 p.Met300Leu LB/B rs73211375 - TRMT44 Q8IYL2 VAR_066602 p.Ile455Val LB/B rs34873641 - TRMT44 Q8IYL2 VAR_066603 p.Gly641Ala LB/B rs150441746 - TRMT5 Q32P41 VAR_028898 p.Pro217Ser LB/B rs7142228 - TRMT5 Q32P41 VAR_028899 p.Leu255Pro LB/B rs2882686 - TRMT5 Q32P41 VAR_028900 p.Glu294Ala LB/B rs2296928 - TRMT5 Q32P41 VAR_075655 p.Arg291His LP/P rs746738473 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay (PNSED) [MIM:616539] TRMT5 Q32P41 VAR_075656 p.Met386Val LP/P rs1057517685 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay (PNSED) [MIM:616539] TRMT6 Q9UJA5 VAR_053789 p.Glu293Lys LB/B rs6139876 - TRMT6 Q9UJA5 VAR_053790 p.Glu299Gly LB/B rs451571 - TRMT6 Q9UJA5 VAR_053791 p.Pro333Leu LB/B rs35203742 - TRMT61A Q96FX7 VAR_026053 p.Val66Ala LB/B - - TRMT9B Q9P272 VAR_056243 p.Pro219Thr LB/B rs505480 - TRMT9B Q9P272 VAR_056244 p.Ile265Thr LB/B rs3739308 - TRMT9B Q9P272 VAR_056245 p.His337Leu LB/B rs34995506 - TRMT9B Q9P272 VAR_061378 p.His150Arg LB/B rs528255 - TRMT9B Q9P272 VAR_061379 p.Cys207Gly LB/B rs3739310 - TRMT9B Q9P272 VAR_061380 p.Gly304Glu LB/B rs502882 - TRMT9B Q9P272 VAR_061381 p.Arg451Gly LB/B rs608052 - TRMT9B Q9P272 VAR_077832 p.Leu93Phe US rs757023992 - TRMU O75648 VAR_027268 p.Ala10Ser LB/B rs11090865 - TRMU O75648 VAR_046380 p.Arg25Ser LB/B rs2272938 - TRMU O75648 VAR_046381 p.Glu148Lys LB/B rs34012206 - TRMU O75648 VAR_046382 p.Arg398Cys LB/B rs34152016 - TRMU O75648 VAR_063428 p.Gly14Ser LB/B rs751248771 - TRMU O75648 VAR_063429 p.Tyr77His LP/P rs118203990 Liver failure, infantile, transient (LFIT) [MIM:613070] TRMU O75648 VAR_063430 p.Gly272Asp LP/P rs118203991 Liver failure, infantile, transient (LFIT) [MIM:613070] TRMU O75648 VAR_063431 p.Val279Met LB/B rs387907022 - TRNP1 Q6NT89 VAR_043545 p.Trp27Arg LB/B rs6689941 - TRNT1 Q96Q11 VAR_048698 p.Pro23Leu LB/B rs334773 - TRNT1 Q96Q11 VAR_072421 p.Thr154Ile LP/P rs606231290 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_072422 p.Met158Val LP/P rs771781629 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_072423 p.Leu166Ser LP/P rs606231289 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_072424 p.Arg190Ile LP/P rs606231287 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_072425 p.Ile223Thr LP/P rs370011798 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_072426 p.Ile326Thr LP/P - Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_072427 p.Lys416Glu LP/P rs199931785 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_088001 p.Met30Val US - Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_088002 p.Arg99Trp LP/P - Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_088003 p.Ile101Thr US - Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_088004 p.Thr110Ile LP/P - Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_088005 p.Glu121Asp US - Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_088006 p.Asp128Gly LP/P - Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_088007 p.Ala148Val LP/P - Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_088008 p.Ile155Thr LP/P - Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_088009 p.Asp163Val LP/P - Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_088010 p.Tyr173Phe LP/P - Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_088012 p.Arg203Lys LP/P - Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_088013 p.His215Arg LP/P - Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRNT1 Q96Q11 VAR_088014 p.Leu313Ser US - Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] TRO Q12816 VAR_053510 p.Ser738Gly LB/B rs17297490 - TRO Q12816 VAR_062122 p.Arg65Trp LB/B rs60674633 - TRO Q12816 VAR_076264 p.Gly951Ser LB/B rs1211752617 - TRPA1 O75762 VAR_020660 p.Arg3Cys LB/B rs13268757 - TRPA1 O75762 VAR_020661 p.Glu179Lys LB/B rs920829 - TRPA1 O75762 VAR_020662 p.Lys186Asn LB/B rs7819749 - TRPA1 O75762 VAR_020663 p.His1018Arg LB/B rs959976 - TRPA1 O75762 VAR_047471 p.Arg58Thr LB/B rs16937976 - TRPA1 O75762 VAR_069737 p.Asn855Ser LP/P rs398123010 Episodic pain syndrome, familial, 1 (FEPS1) [MIM:615040] TRPC3 Q13507 VAR_073835 p.Arg847His LP/P rs754235477 Spinocerebellar ataxia 41 (SCA41) [MIM:616410] TRPC4 Q9UBN4 VAR_036452 p.Glu138Lys US - A breast cancer sample TRPC5 Q9UL62 VAR_052369 p.Arg702His LB/B rs36047478 - TRPC5 Q9UL62 VAR_069415 p.Pro667Thr US - - TRPC6 Q9Y210 VAR_026730 p.Pro112Gln LP/P rs121434390 Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_026731 p.Asn143Ser LP/P rs121434391 Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_026732 p.Ser270Thr LP/P rs121434392 Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_026733 p.Arg895Cys LP/P rs121434394 Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_026734 p.Glu897Lys LP/P rs121434395 Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_038419 p.Asn157Thr LB/B rs35857503 - TRPC6 Q9Y210 VAR_061861 p.Ala404Val LB/B rs36111323 - TRPC6 Q9Y210 VAR_067247 p.Asn125Ser US rs146776939 Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_067248 p.His218Leu LP/P rs779430565 Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_067249 p.Arg895Leu LP/P - Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_079784 p.Pro15Ser LB/B rs3802829 - TRPC6 Q9Y210 VAR_079786 p.Gly109Ser LP/P - Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_079787 p.Arg175Gln LP/P rs1451194842 Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_079788 p.Arg360His US rs777715086 Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_079789 p.Leu395Ala US - Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_079790 p.Gly757Asp LP/P - Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_079791 p.Leu780Pro US rs771594597 Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965] TRPM1 Q7Z4N2 VAR_052370 p.Ser32Asn LB/B rs2241493 - TRPM1 Q7Z4N2 VAR_052371 p.Val605Met LB/B rs17815774 - TRPM1 Q7Z4N2 VAR_052372 p.Asn1229Thr LB/B rs17227996 - TRPM1 Q7Z4N2 VAR_052373 p.Arg1305His LB/B rs13380059 - TRPM1 Q7Z4N2 VAR_052374 p.Val1395Ile LB/B rs3784588 - TRPM1 Q7Z4N2 VAR_052375 p.Arg1422Gly LB/B rs3784587 - TRPM1 Q7Z4N2 VAR_052376 p.His1498Gln LB/B rs12898290 - TRPM1 Q7Z4N2 VAR_063173 p.Arg6Trp LB/B - - TRPM1 Q7Z4N2 VAR_063174 p.Tyr56Cys LP/P - Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063175 p.Tyr72Cys LP/P rs200514769 Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063176 p.Arg74Cys LP/P rs774365264 Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063177 p.Leu99Pro LP/P rs191205969 Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063178 p.Leu364Arg LP/P rs372608320 Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063179 p.Pro399Thr LB/B rs141540242 - TRPM1 Q7Z4N2 VAR_063180 p.Arg473Pro LP/P - Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063181 p.Gly534Arg LP/P rs748043795 Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063182 p.Met541Lys LP/P rs1261040173 Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063183 p.Pro611His LP/P rs267607139 Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063184 p.Arg721Gln LP/P rs781460164 Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063185 p.Glu883Gly LP/P rs574652148 Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063186 p.Met962Thr US - - TRPM1 Q7Z4N2 VAR_063187 p.Ile1002Phe LP/P rs369484186 Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063188 p.Gln1161His LB/B rs182549235 - TRPM1 Q7Z4N2 VAR_063189 p.Pro1379Thr LB/B rs61734298 - TRPM1 Q7Z4N2 VAR_063190 p.Arg1422Trp LB/B - - TRPM1 Q7Z4N2 VAR_063191 p.Arg1438Gly US - - TRPM2 O94759 VAR_020032 p.Asp543Glu LB/B rs1556314 - TRPM2 O94759 VAR_025216 p.Asn52Lys LB/B rs45625933 - TRPM2 O94759 VAR_025217 p.Val166Ile LB/B rs45544142 - TRPM2 O94759 VAR_025218 p.Val385Met LB/B rs45485992 - TRPM2 O94759 VAR_025219 p.Asp780Glu LB/B rs9974927 - TRPM2 O94759 VAR_025220 p.Gln1189Arg LB/B rs9978351 - TRPM2 O94759 VAR_025221 p.Arg1199Trp LB/B rs45611537 - TRPM2 O94759 VAR_025222 p.Ser1201Gly LB/B rs45519835 - TRPM2 O94759 VAR_025223 p.Asn1249Ser LB/B rs45513700 - TRPM2 O94759 VAR_025224 p.Thr1347Met LB/B rs45589233 - TRPM2 O94759 VAR_025225 p.Glu1359Lys LB/B rs45570639 - TRPM2 O94759 VAR_025226 p.Ile1368Met LB/B rs45613636 - TRPM2 O94759 VAR_025227 p.Ala1438Ser LB/B rs45578242 - TRPM3 Q9HCF6 VAR_021257 p.Arg1695Gln LB/B rs6560142 - TRPM3 Q9HCF6 VAR_057305 p.Thr1653Ile LB/B rs13440436 - TRPM3 Q9HCF6 VAR_057306 p.Asn1732Thr LB/B rs17535963 - TRPM3 Q9HCF6 VAR_061862 p.Arg1717Lys LB/B rs41287373 - TRPM3 Q9HCF6 VAR_088074 p.Ile65Met LP/P - Cataract 50 with or without glaucoma (CTRCT50) [MIM:620253] TRPM3 Q9HCF6 VAR_088075 p.Val1015Met LP/P - Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS) [MIM:620224] TRPM3 Q9HCF6 VAR_088076 p.Pro1115Gln LP/P - Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS) [MIM:620224] TRPM3 Q9HCF6 VAR_088077 p.Ser1380Thr US - Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS) [MIM:620224] TRPM4 Q8TD43 VAR_064042 p.Glu7Lys LP/P rs267607142 Progressive familial heart block 1B (PFHB1B) [MIM:604559] TRPM4 Q8TD43 VAR_066761 p.Ala101Thr LB/B rs113984787 - TRPM4 Q8TD43 VAR_066762 p.Tyr103Cys LB/B rs144781529 - TRPM4 Q8TD43 VAR_066763 p.Gln131His LP/P rs172146854 Progressive familial heart block 1B (PFHB1B) [MIM:604559] TRPM4 Q8TD43 VAR_066764 p.Arg164Trp LP/P rs387907216 Progressive familial heart block 1B (PFHB1B) [MIM:604559] TRPM4 Q8TD43 VAR_066765 p.Arg252His LB/B rs146564314 - TRPM4 Q8TD43 VAR_066766 p.Gln293Arg LP/P rs172147855 Progressive familial heart block 1B (PFHB1B) [MIM:604559] TRPM4 Q8TD43 VAR_066767 p.Ala432Thr LP/P rs201907325 Progressive familial heart block 1B (PFHB1B) [MIM:604559] TRPM4 Q8TD43 VAR_066769 p.Asp561Ala LB/B rs56355369 - TRPM4 Q8TD43 VAR_066770 p.Gly582Ser LP/P rs172149856 Progressive familial heart block 1B (PFHB1B) [MIM:604559] TRPM4 Q8TD43 VAR_066771 p.Tyr790His LP/P rs172150857 Progressive familial heart block 1B (PFHB1B) [MIM:604559] TRPM4 Q8TD43 VAR_066772 p.Gly844Asp LP/P rs200038418 Progressive familial heart block 1B (PFHB1B) [MIM:604559] TRPM4 Q8TD43 VAR_066773 p.Gln854Arg LB/B rs172155862 - TRPM4 Q8TD43 VAR_066774 p.Lys914Arg LP/P rs172151858 Progressive familial heart block 1B (PFHB1B) [MIM:604559] TRPM4 Q8TD43 VAR_066775 p.Pro970Ser LP/P rs172152859 Progressive familial heart block 1B (PFHB1B) [MIM:604559] TRPM4 Q8TD43 VAR_066776 p.Pro1204Leu LB/B rs150391806 - TRPM4 Q8TD43 VAR_083166 p.Ile1033Met LP/P rs1278993777 Erythrokeratodermia variabilis et progressiva 6 (EKVP6) [MIM:618531] TRPM4 Q8TD43 VAR_083167 p.Ile1040Thr LP/P rs1369949906 Erythrokeratodermia variabilis et progressiva 6 (EKVP6) [MIM:618531] TRPM5 Q9NZQ8 VAR_042578 p.Val254Ala LB/B rs3986599 - TRPM5 Q9NZQ8 VAR_052377 p.Asn235Ser LB/B rs886277 - TRPM5 Q9NZQ8 VAR_052378 p.Val335Leu LB/B rs34350821 - TRPM5 Q9NZQ8 VAR_052379 p.Ala456Thr LB/B rs34551253 - TRPM5 Q9NZQ8 VAR_059836 p.Arg578Gln LB/B rs4929982 - TRPM6 Q9BX84 VAR_019963 p.Ser141Leu LP/P rs121912625 Hypomagnesemia 1 (HOMG1) [MIM:602014] TRPM6 Q9BX84 VAR_019964 p.Asn1071Asp LB/B rs2274922 - TRPM6 Q9BX84 VAR_019965 p.Val1393Ile LB/B rs3750425 - TRPM6 Q9BX84 VAR_019966 p.Lys1584Glu LB/B rs2274924 - TRPM6 Q9BX84 VAR_042387 p.Gly75Val US rs1193127627 A lung adenocarcinoma sample TRPM6 Q9BX84 VAR_042388 p.Met338Ile LB/B rs56155062 - TRPM6 Q9BX84 VAR_042389 p.Trp1007Cys US - A lung large cell carcinoma sample TRPM6 Q9BX84 VAR_042390 p.His1243Arg LB/B rs55694430 - TRPM6 Q9BX84 VAR_042391 p.Gln1274Arg LB/B rs34608911 - TRPM6 Q9BX84 VAR_042392 p.Gln1663Arg LB/B rs55679040 - TRPM6 Q9BX84 VAR_042393 p.Leu1673Ser LB/B rs56254742 - TRPM6 Q9BX84 VAR_042394 p.Thr1724Ile LB/B rs56290308 - TRPM6 Q9BX84 VAR_052380 p.Phe948Leu LB/B rs13290391 - TRPM6 Q9BX84 VAR_071480 p.Leu708Pro LP/P - Hypomagnesemia 1 (HOMG1) [MIM:602014] TRPM6 Q9BX84 VAR_071481 p.Glu872Gly LP/P - Hypomagnesemia 1 (HOMG1) [MIM:602014] TRPM6 Q9BX84 VAR_071482 p.Tyr1053Cys LP/P - Hypomagnesemia 1 (HOMG1) [MIM:602014] TRPM6 Q9BX84 VAR_071483 p.Leu1143Pro LP/P - Hypomagnesemia 1 (HOMG1) [MIM:602014] TRPM6 Q9BX84 VAR_071484 p.Ser1754Asn LP/P - Hypomagnesemia 1 (HOMG1) [MIM:602014] TRPM7 Q96QT4 VAR_019967 p.Thr1482Ile LB/B rs8042919 - TRPM7 Q96QT4 VAR_042395 p.Gly68Val LB/B rs56064201 - TRPM7 Q96QT4 VAR_042396 p.Ser406Cys US - An ovarian serous carcinoma sample TRPM7 Q96QT4 VAR_042397 p.Ile459Thr LB/B rs55924090 - TRPM7 Q96QT4 VAR_042398 p.Lys574Asn LB/B rs56040619 - TRPM7 Q96QT4 VAR_042399 p.Thr720Ser US rs1040254222 A breast infiltrating ductal carcinoma sample TRPM7 Q96QT4 VAR_042400 p.Met830Val US - A gastric adenocarcinoma sample TRPM7 Q96QT4 VAR_042401 p.Phe949Tyr LB/B rs55681028 - TRPM7 Q96QT4 VAR_042402 p.Gln1064Arg LB/B rs56298128 - TRPM7 Q96QT4 VAR_042403 p.Ile1211Thr LB/B rs56090496 - TRPM7 Q96QT4 VAR_042404 p.Ala1254Val LB/B rs56288221 - TRPM7 Q96QT4 VAR_042405 p.Asp1306Glu LB/B rs55970334 - TRPM7 Q96QT4 VAR_042406 p.Arg1444Lys LB/B rs55840070 - TRPM7 Q96QT4 VAR_052381 p.Ala1033Gly LB/B rs34530969 - TRPM7 Q96QT4 VAR_052382 p.Ile1145Val LB/B rs34711809 - TRPM7 Q96QT4 VAR_086707 p.Gly1046Asp LB/B rs2059709974 - TRPM8 Q7Z2W7 VAR_052383 p.Arg247Thr LB/B rs13004520 - TRPM8 Q7Z2W7 VAR_052384 p.Tyr251Cys LB/B rs17868387 - TRPM8 Q7Z2W7 VAR_052385 p.Met462Thr LB/B rs28902173 - TRPM8 Q7Z2W7 VAR_052386 p.Thr732Ile LB/B rs17862932 - TRPM8 Q7Z2W7 VAR_052387 p.Asn821Ser LB/B rs28902201 - TRPM8 Q7Z2W7 VAR_059837 p.Ser419Asn LB/B rs7593557 - TRPS1 Q9UHF7 VAR_012807 p.Val894Asp LP/P - Tricho-rhino-phalangeal syndrome 3 (TRPS3) [MIM:190351] TRPS1 Q9UHF7 VAR_012808 p.Thr901Pro LP/P rs121908433 Tricho-rhino-phalangeal syndrome 3 (TRPS3) [MIM:190351] TRPS1 Q9UHF7 VAR_012809 p.Arg908Pro LP/P - Tricho-rhino-phalangeal syndrome 3 (TRPS3) [MIM:190351] TRPS1 Q9UHF7 VAR_012810 p.Arg908Gln LP/P rs121908435 Tricho-rhino-phalangeal syndrome 3 (TRPS3) [MIM:190351] TRPS1 Q9UHF7 VAR_012811 p.Ala919Thr LP/P rs1057518972 Tricho-rhino-phalangeal syndrome 3 (TRPS3) [MIM:190351] TRPS1 Q9UHF7 VAR_038197 p.Ser654Leu LB/B rs7002384 - TRPS1 Q9UHF7 VAR_038198 p.Arg952Cys LP/P rs28939069 Tricho-rhino-phalangeal syndrome 1 (TRPS1) [MIM:190350] TRPS1 Q9UHF7 VAR_038199 p.Arg952His LP/P rs28939070 Tricho-rhino-phalangeal syndrome 1 (TRPS1) [MIM:190350] TRPT1 Q86TN4 VAR_030134 p.Phe3Leu LB/B rs12788168 - TRPT1 Q86TN4 VAR_030135 p.His172Arg LB/B rs1059440 - TRPT1 Q86TN4 VAR_030136 p.Arg221Cys LB/B rs11549690 - TRPV1 Q8NER1 VAR_022246 p.Ile585Val LB/B rs8065080 - TRPV1 Q8NER1 VAR_057307 p.Pro91Ser LB/B rs222749 - TRPV1 Q8NER1 VAR_057308 p.Thr469Ile LB/B rs224534 - TRPV1 Q8NER1 VAR_057309 p.Thr505Ala LB/B rs17633288 - TRPV1 Q8NER1 VAR_071244 p.Met315Ile LB/B rs222747 - TRPV2 Q9Y5S1 VAR_024678 p.Gly17Ala LB/B rs3813768 - TRPV2 Q9Y5S1 VAR_059838 p.Asn764Ser LB/B rs8071215 - TRPV3 Q8NET8 VAR_052388 p.Ile25Val LB/B rs322965 - TRPV3 Q8NET8 VAR_052389 p.Arg117Gly LB/B rs322937 - TRPV3 Q8NET8 VAR_052390 p.Thr774Ile LB/B rs7212634 - TRPV3 Q8NET8 VAR_067920 p.Gly573Cys LP/P rs199473704 Olmsted syndrome 1 (OLMS1) [MIM:614594] TRPV3 Q8NET8 VAR_067921 p.Gly573Ser LP/P rs199473704 Olmsted syndrome 1 (OLMS1) [MIM:614594] TRPV3 Q8NET8 VAR_067922 p.Trp692Gly LP/P rs199473705 Olmsted syndrome 1 (OLMS1) [MIM:614594] TRPV3 Q8NET8 VAR_073832 p.Gln580Pro LP/P rs786205869 Palmoplantar keratoderma, non-epidermolytic, focal 2 (FNEPPK2) [MIM:616400] TRPV4 Q9HBA0 VAR_052391 p.Pro19Ser LB/B rs3742030 - TRPV4 Q9HBA0 VAR_054805 p.Arg616Gln LP/P rs121912632 Brachyolmia 3 (BCYM3) [MIM:113500] TRPV4 Q9HBA0 VAR_054806 p.Val620Ile LP/P rs121912633 Brachyolmia 3 (BCYM3) [MIM:113500] TRPV4 Q9HBA0 VAR_062331 p.Ile331Phe LP/P rs121912636 Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_062332 p.Asp333Gly LP/P rs121912634 Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_062333 p.Arg594His LP/P rs77975504 Parastremmatic dwarfism (PSTD) [MIM:168400] TRPV4 Q9HBA0 VAR_062333 p.Arg594His LP/P rs77975504 Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_062334 p.Ala716Ser LP/P rs121912635 Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_062335 p.Pro799Leu LP/P rs121912637 Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_063528 p.Arg269Cys LP/P rs267607146 Charcot-Marie-Tooth disease, axonal, 2C (CMT2C) [MIM:606071] TRPV4 Q9HBA0 VAR_063529 p.Arg269His LP/P rs267607144 Charcot-Marie-Tooth disease, axonal, 2C (CMT2C) [MIM:606071] TRPV4 Q9HBA0 VAR_063529 p.Arg269His LP/P rs267607144 Neuronopathy, distal hereditary motor, autosomal dominant 8 (HMND8) [MIM:600175] TRPV4 Q9HBA0 VAR_063530 p.Arg316Cys LP/P rs267607145 Charcot-Marie-Tooth disease, axonal, 2C (CMT2C) [MIM:606071] TRPV4 Q9HBA0 VAR_063530 p.Arg316Cys LP/P rs267607145 Scapuloperoneal spinal muscular atrophy (SPSMA) [MIM:181405] TRPV4 Q9HBA0 VAR_063541 p.Arg315Trp LP/P rs267607143 Charcot-Marie-Tooth disease, axonal, 2C (CMT2C) [MIM:606071] TRPV4 Q9HBA0 VAR_064517 p.Thr89Ile LP/P rs397514473 Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064518 p.Glu183Lys LB/B rs387906324 - TRPV4 Q9HBA0 VAR_064519 p.Lys197Arg LP/P rs387906903 Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064520 p.Leu199Phe LP/P rs515726167 Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064521 p.Glu278Lys LP/P rs267607148 Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_064522 p.Thr295Ala LP/P rs515726171 Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064523 p.Ile331Thr LP/P rs515726172 Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064524 p.Val342Phe LP/P rs515726152 Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064526 p.Phe592Leu LP/P rs515726158 Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064527 p.Leu596Pro LP/P rs515726159 Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_064528 p.Gly600Trp LP/P rs515726160 Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_064529 p.Tyr602Cys LB/B rs267607150 - TRPV4 Q9HBA0 VAR_064530 p.Ile604Met LP/P rs515726161 Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064531 p.Phe617Leu LP/P rs515726162 Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064532 p.Leu618Pro LP/P rs515726163 Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064533 p.Met625Ile LP/P rs515726164 Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_064534 p.Leu709Met LP/P rs116571438 Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_064535 p.Arg775Lys LP/P - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064536 p.Cys777Tyr LP/P rs515726165 Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_064537 p.Glu797Lys LP/P rs267607149 Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064537 p.Glu797Lys LP/P rs267607149 Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_064538 p.Pro799Ala LP/P rs267607147 Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064539 p.Pro799Arg LP/P rs121912637 Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064540 p.Pro799Ser LP/P rs267607147 Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_067989 p.Pro97Arg LP/P rs876661124 Neuronopathy, distal hereditary motor, autosomal dominant 8 (HMND8) [MIM:600175] TRPV4 Q9HBA0 VAR_067990 p.Arg232Cys LP/P rs387906904 Charcot-Marie-Tooth disease, axonal, 2C (CMT2C) [MIM:606071] TRPV4 Q9HBA0 VAR_067990 p.Arg232Cys LP/P rs387906904 Neuronopathy, distal hereditary motor, autosomal dominant 8 (HMND8) [MIM:600175] TRPV4 Q9HBA0 VAR_067991 p.Arg316His LP/P rs387906905 Charcot-Marie-Tooth disease, axonal, 2C (CMT2C) [MIM:606071] TRPV4 Q9HBA0 VAR_067993 p.Ser542Tyr LP/P rs387906902 Charcot-Marie-Tooth disease, axonal, 2C (CMT2C) [MIM:606071] TRPV4 Q9HBA0 VAR_068498 p.Gly270Val LP/P rs387907220 Digital arthropathy-brachydactyly, familial (FDAB) [MIM:606835] TRPV4 Q9HBA0 VAR_068499 p.Arg271Pro LP/P rs387907219 Digital arthropathy-brachydactyly, familial (FDAB) [MIM:606835] TRPV4 Q9HBA0 VAR_068500 p.Phe273Leu LP/P rs515726170 Digital arthropathy-brachydactyly, familial (FDAB) [MIM:606835] TRPV5 Q9NQA5 VAR_022247 p.Ala8Val LB/B rs4252372 - TRPV5 Q9NQA5 VAR_022248 p.His154Arg LB/B rs4236480 - TRPV5 Q9NQA5 VAR_022249 p.Thr563Ala LB/B rs4252499 - TRPV5 Q9NQA5 VAR_022250 p.Leu712Phe LB/B rs4252509 - TRPV6 Q9H1D0 VAR_022251 p.Cys197Arg LB/B rs4987657 - TRPV6 Q9H1D0 VAR_022252 p.Met418Val LB/B rs4987667 - TRPV6 Q9H1D0 VAR_022253 p.Met721Thr LB/B rs4987682 - TRPV6 Q9H1D0 VAR_052393 p.Arg399Gln LB/B rs4987665 - TRPV6 Q9H1D0 VAR_081865 p.Ala18Ser LP/P rs17881456 Hyperparathyroidism, transient neonatal (HRPTTN) [MIM:618188] TRPV6 Q9H1D0 VAR_081866 p.Cys212Tyr LP/P rs1586190048 Hyperparathyroidism, transient neonatal (HRPTTN) [MIM:618188] TRPV6 Q9H1D0 VAR_081867 p.Ile223Thr LP/P rs529924080 Hyperparathyroidism, transient neonatal (HRPTTN) [MIM:618188] TRPV6 Q9H1D0 VAR_081868 p.Arg425Gln LP/P rs1281361203 Hyperparathyroidism, transient neonatal (HRPTTN) [MIM:618188] TRPV6 Q9H1D0 VAR_081869 p.Gly428Arg LP/P rs1327315227 Hyperparathyroidism, transient neonatal (HRPTTN) [MIM:618188] TRPV6 Q9H1D0 VAR_081870 p.Gly451Glu LP/P - Hyperparathyroidism, transient neonatal (HRPTTN) [MIM:618188] TRPV6 Q9H1D0 VAR_081871 p.Arg483Trp LP/P rs755916513 Hyperparathyroidism, transient neonatal (HRPTTN) [MIM:618188] TRRAP Q9Y4A5 VAR_028359 p.Arg878Leu LB/B rs17161510 - TRRAP Q9Y4A5 VAR_041658 p.Arg893Cys US - An ovarian serous carcinoma sample TRRAP Q9Y4A5 VAR_041659 p.Ser1070Gly LB/B rs55920979 - TRRAP Q9Y4A5 VAR_041660 p.Arg1669His US rs373632999 A colorectal adenocarcinoma sample TRRAP Q9Y4A5 VAR_041661 p.Arg1724His US rs782203759 A gastric adenocarcinoma sample TRRAP Q9Y4A5 VAR_041662 p.Ala1925Val LB/B rs56197298 - TRRAP Q9Y4A5 VAR_041663 p.Pro1932Leu US - Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_041664 p.Arg1947Leu US - An ovarian mucinous carcinoma sample TRRAP Q9Y4A5 VAR_041665 p.Trp2139Gly LB/B rs34185633 - TRRAP Q9Y4A5 VAR_041666 p.Arg2302Trp US rs528967912 A colorectal adenocarcinoma sample TRRAP Q9Y4A5 VAR_041667 p.Ser2433Gly LB/B rs35634065 - TRRAP Q9Y4A5 VAR_041668 p.Pro2690Leu US rs753661271 A lung large cell carcinoma sample TRRAP Q9Y4A5 VAR_041669 p.Glu2750Asp LB/B rs55755466 - TRRAP Q9Y4A5 VAR_041670 p.Lys2801Glu LB/B rs56341061 - TRRAP Q9Y4A5 VAR_041671 p.Thr2931Met US rs1294404368 A colorectal adenocarcinoma sample TRRAP Q9Y4A5 VAR_067754 p.Ser722Phe LB/B rs147405090 - TRRAP Q9Y4A5 VAR_082969 p.Leu805Phe US rs1562940289 Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_082970 p.Phe860Leu US - Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_082971 p.Arg893Leu US - Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_082972 p.Ile1031Met LP/P - Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_082973 p.Arg1035Gln US - Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_082974 p.Ser1037Arg US - Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_082975 p.Ala1043Thr LP/P rs1562945106 Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_082976 p.Glu1104Gly LP/P rs1790257064 Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_082977 p.Glu1106Lys LP/P rs1584324956 Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_082978 p.Gly1111Trp US - Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_082979 p.Gly1159Arg LP/P rs1790288810 Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_082980 p.Arg1859Cys LP/P rs1791432323 Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_082981 p.Trp1866Cys US rs1562957576 Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_082982 p.Trp1866Arg LP/P rs1562957569 Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_082983 p.Gly1883Arg LP/P - Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_082984 p.Arg2004Gln US rs1562959030 Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_082985 p.Arg3757Gln US rs987263983 Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454] TRRAP Q9Y4A5 VAR_083794 p.Arg171Cys US rs200157211 Deafness, autosomal dominant, 75 (DFNA75) [MIM:618778] TRRAP Q9Y4A5 VAR_083795 p.Asp394Asn US rs1554407965 Deafness, autosomal dominant, 75 (DFNA75) [MIM:618778] TRUB1 Q8WWH5 VAR_027748 p.Arg167Lys LB/B rs7099565 - TRUB1 Q8WWH5 VAR_051607 p.Glu103Ala LB/B rs34393297 - TRUB2 O95900 VAR_027749 p.Val93Leu LB/B rs2072394 - TRUB2 O95900 VAR_051608 p.Pro79Leu LB/B rs2231630 - TRUB2 O95900 VAR_051609 p.Thr209Ser LB/B rs2231637 - TSACC Q96A04 VAR_061567 p.Ser54Leu LB/B rs41265043 - TSBP1 Q5SRN2 VAR_022875 p.Cys30Arg LB/B rs3129941 - TSBP1 Q5SRN2 VAR_022876 p.Tyr36His LB/B rs9268384 - TSBP1 Q5SRN2 VAR_022877 p.Tyr69Cys LB/B rs9268368 - TSBP1 Q5SRN2 VAR_022878 p.Pro128Leu LB/B rs1033500 - TSBP1 Q5SRN2 VAR_022879 p.Ile150Phe LB/B rs1265754 - TSBP1 Q5SRN2 VAR_022880 p.Ser170Pro LB/B rs9405090 - TSBP1 Q5SRN2 VAR_022881 p.Ser227Pro LB/B rs560505 - TSBP1 Q5SRN2 VAR_022882 p.Ile315Val LB/B rs3749966 - TSBP1 Q5SRN2 VAR_022883 p.Lys400Gln LB/B rs7775397 - TSBP1 Q5SRN2 VAR_033068 p.Pro161Leu LB/B rs1003878 - TSBP1 Q5SRN2 VAR_056793 p.Leu266Trp LB/B rs4947338 - TSBP1 Q5SRN2 VAR_056794 p.Pro274Ser LB/B rs34498363 - TSBP1 Q5SRN2 VAR_056795 p.Ala433Thr LB/B rs16870005 - TSBP1 Q5SRN2 VAR_056796 p.Gly479Val LB/B rs7751028 - TSC1 Q92574 VAR_009397 p.Glu51Asp US rs118203342 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_009398 p.Arg190Ser LB/B - - TSC1 Q92574 VAR_009399 p.Leu191His LP/P rs118203403 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_009401 p.Met224Arg LP/P rs118203426 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_009402 p.Met322Thr LB/B rs1073123 - TSC1 Q92574 VAR_009403 p.Thr417Ile US rs77464996 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_009404 p.Glu577Asp LB/B rs118203571 - TSC1 Q92574 VAR_009406 p.Lys587Arg LB/B rs118203576 - TSC1 Q92574 VAR_009407 p.Gln654Glu LP/P rs75820036 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_009408 p.Ala726Glu LP/P rs118203655 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_009409 p.His732Tyr LB/B rs118203657 - TSC1 Q92574 VAR_009410 p.Glu809Gln LB/B rs118203692 - TSC1 Q92574 VAR_009411 p.Ser829Arg LB/B rs118203699 - TSC1 Q92574 VAR_009412 p.Thr899Ser LP/P rs76801599 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_009413 p.Gly1035Ser LB/B rs118203742 - TSC1 Q92574 VAR_009414 p.Gly1108Ser LB/B rs118203753 - TSC1 Q92574 VAR_054386 p.His68Arg US rs118203347 A bladder tumor TSC1 Q92574 VAR_054387 p.Leu72Pro LP/P rs118203354 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_054388 p.Phe158Cys US rs118203385 A bladder tumor TSC1 Q92574 VAR_054389 p.His206Asp US - A bladder tumor TSC1 Q92574 VAR_054390 p.Phe216Leu US rs1323541164 A bladder tumor TSC1 Q92574 VAR_054391 p.Arg500Gln LP/P rs118203538 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070636 p.Leu61Arg US rs118203345 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070637 p.Leu117Pro LP/P rs118203368 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070638 p.Val126Ile US rs397514843 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070640 p.Gly132Asp US rs397514784 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070641 p.Val133Ile US rs118203381 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070642 p.Phe158Ser US rs118203385 - TSC1 Q92574 VAR_070643 p.Leu180Pro LP/P rs118203396 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070644 p.Arg204Pro LB/B rs397514834 - TSC1 Q92574 VAR_070645 p.Arg246Lys US rs118203436 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070646 p.Gly305Arg US rs118203468 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070647 p.Gly305Trp US rs118203468 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070648 p.Arg336Gln US rs397514808 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070649 p.Pro362Ser US rs397514864 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070650 p.Leu411Ile US rs397514840 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070651 p.Pro448Ser LB/B rs118203518 - TSC1 Q92574 VAR_070652 p.Arg509Gln LB/B rs118203543 - TSC1 Q92574 VAR_070653 p.Ala523Pro US rs118203548 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070654 p.Ala567Val LB/B rs397514880 - TSC1 Q92574 VAR_070655 p.Asp693His US rs397514800 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070656 p.Leu698Arg US rs397514802 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070657 p.Gln701His US rs118203639 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070658 p.Asn762Ser US rs118203670 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070659 p.Arg811Gly US rs397514814 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070660 p.Ala883Thr US rs118203721 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070661 p.Leu978Val US rs397514859 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_070663 p.Arg1097His LB/B rs118203750 - TSC1 Q92574 VAR_070664 p.Asp1146Tyr US rs397514806 Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_078844 p.Arg22Trp LP/P rs749030456 Focal cortical dysplasia 2 (FCORD2) [MIM:607341] TSC1 Q92574 VAR_078846 p.Arg204Cys LP/P rs1060505021 Focal cortical dysplasia 2 (FCORD2) [MIM:607341] TSC2 P49815 VAR_005646 p.Leu292Pro LP/P rs45517138 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005647 p.Tyr407Asp LP/P rs45517156 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005648 p.Met449Ile LP/P rs45443091 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005649 p.Ala607Thr LB/B rs45517203 - TSC2 P49815 VAR_005650 p.Arg611Gln LP/P rs28934872 Lymphangioleiomyomatosis (LAM) [MIM:606690] TSC2 P49815 VAR_005650 p.Arg611Gln LP/P rs28934872 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005651 p.Arg611Trp LP/P rs45469298 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005652 p.Leu826Met LP/P rs45517238 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005653 p.Arg905Gln LP/P rs45517259 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005654 p.Arg905Trp LP/P rs45517258 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005655 p.Asp1084Glu LP/P rs45517286 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005656 p.Arg1200Trp LP/P rs45438205 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005657 p.Pro1227Leu LP/P - Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005658 p.Arg1240Trp LP/P - Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005659 p.Asp1295Val LP/P - Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005661 p.Tyr1549Cys LP/P rs45517355 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005663 p.Asn1643Ile LP/P rs45517380 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005664 p.Tyr1650Cys LP/P rs45501091 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005665 p.Asp1690Tyr LP/P rs137854882 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005666 p.Ala1712Glu LP/P - Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005667 p.Leu1750Phe LP/P rs45459299 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008019 p.Pro94Thr LB/B rs1051616 - TSC2 P49815 VAR_008020 p.Cys227Tyr LP/P rs45517122 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008021 p.Asn331Lys LP/P rs45517153 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008022 p.Asn486Ile LP/P rs45486599 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008023 p.Ile490Val LB/B rs45517175 - TSC2 P49815 VAR_008024 p.Ala536Val LB/B rs45517187 - TSC2 P49815 VAR_008025 p.Phe615Ser LB/B rs45481105 - TSC2 P49815 VAR_008026 p.Pro816Leu LP/P rs45517236 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008027 p.Val1144Met LP/P rs45517294 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008028 p.Pro1315Ser LP/P rs397514916 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008029 p.Arg1329His LB/B rs45517323 - TSC2 P49815 VAR_008030 p.Pro1709Leu LP/P rs45517393 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008031 p.Arg1743Gln LP/P rs45507199 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008032 p.His1773Pro LP/P rs45517418 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008033 p.Glu1783Gln LP/P rs777166275 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009415 p.His137Arg US rs45517107 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009416 p.Leu160Val LB/B rs45517109 - TSC2 P49815 VAR_009417 p.Lys258Asn LP/P rs137854875 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009418 p.Arg261Pro LP/P rs45502703 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009419 p.Arg261Trp LB/B rs45517130 - TSC2 P49815 VAR_009420 p.Met286Thr LB/B rs45517136 - TSC2 P49815 VAR_009421 p.Met286Val LB/B rs1800748 - TSC2 P49815 VAR_009422 p.Gly294Glu LP/P rs45487497 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009424 p.Leu309Gln LB/B rs137853986 - TSC2 P49815 VAR_009425 p.Leu320Phe US rs1131825 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009426 p.Leu361Pro LP/P rs45517147 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009428 p.Arg367Gln LB/B rs1800725 - TSC2 P49815 VAR_009429 p.Pro378Leu LB/B rs45517154 - TSC2 P49815 VAR_009430 p.Gly440Ser LB/B rs45484298 - TSC2 P49815 VAR_009431 p.Ile463Val LB/B rs45517171 - TSC2 P49815 VAR_009432 p.Asn525Ser LP/P rs45457694 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009433 p.Ala583Thr LB/B rs1800729 - TSC2 P49815 VAR_009434 p.His593Arg LB/B rs45517198 - TSC2 P49815 VAR_009435 p.Lys599Met LP/P rs45517202 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009436 p.Ala614Asp LP/P rs45454398 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009437 p.Asp647Asn US rs45509392 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009439 p.Cys696Tyr LP/P rs45486196 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009440 p.Leu717Arg LP/P rs45517214 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009441 p.Val769Glu US rs45499191 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009442 p.Met895Val LP/P rs45470695 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009443 p.Val963Met US rs45517275 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009444 p.Ser1282Gly LB/B rs45446700 - TSC2 P49815 VAR_009445 p.Pro1497Arg LP/P rs45497997 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009446 p.Ser1498Asn LP/P rs137854879 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009447 p.Leu1594Met US rs45511204 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009448 p.His1620Tyr LP/P rs45446901 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009449 p.Asn1643Lys LP/P rs45517381 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009450 p.Asn1651Ser LP/P rs45517382 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009451 p.Pro1675Leu LP/P rs45483392 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009452 p.Asn1681Lys LP/P rs45476793 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009453 p.Ser1704Thr LP/P rs45474691 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009454 p.Arg1743Pro LP/P rs45507199 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009455 p.Leu1744Pro LP/P rs45517413 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009457 p.Gly1787Ser LB/B rs45517419 - TSC2 P49815 VAR_009458 p.Gly1791Ser LB/B rs45517421 - TSC2 P49815 VAR_018600 p.Ala862Val LB/B rs45517249 - TSC2 P49815 VAR_018601 p.Ala1429Ser LB/B rs45474795 - TSC2 P49815 VAR_018602 p.Pro1450Arg LB/B rs45517338 - TSC2 P49815 VAR_018603 p.Ser1653Phe LP/P rs45517383 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_022919 p.Leu1027Pro LP/P rs45438192 Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_022920 p.Ser1341Arg LB/B rs45462593 - TSC2 P49815 VAR_022921 p.Asp1636Asn LB/B rs45482398 - TSC2 P49815 VAR_022922 p.Val1673Leu LB/B rs45490993 - TSC2 P49815 VAR_057014 p.Ala1141Val LB/B rs34870424 - TSC2 P49815 VAR_057015 p.Ser1774Thr LB/B rs9209 - TSC2 P49815 VAR_060584 p.Leu619Phe LB/B rs1131826 - TSC2 P49815 VAR_060585 p.Ser802Arg LB/B rs1051621 - TSC2 P49815 VAR_078847 p.Val1547Ile LP/P rs745895675 Focal cortical dysplasia 2 (FCORD2) [MIM:607341] TSC22D1 Q15714 VAR_057311 p.Pro652Ser LB/B rs9525983 - TSC22D2 O75157 VAR_052408 p.Ala419Thr LB/B rs879634 - TSC22D4 Q9Y3Q8 VAR_036284 p.Val329Met US - A breast cancer sample TSEN15 Q8WW01 VAR_019457 p.Gly19Asp LB/B rs2274432 - TSEN15 Q8WW01 VAR_019458 p.Gln59His LB/B rs1046934 - TSEN15 Q8WW01 VAR_077061 p.Trp76Gly LP/P rs730882223 Pontocerebellar hypoplasia 2F (PCH2F) [MIM:617026] TSEN15 Q8WW01 VAR_077062 p.His116Tyr LP/P rs879253780 Pontocerebellar hypoplasia 2F (PCH2F) [MIM:617026] TSEN15 Q8WW01 VAR_077063 p.Tyr152Cys LP/P rs879253779 Pontocerebellar hypoplasia 2F (PCH2F) [MIM:617026] TSEN2 Q8NCE0 VAR_048931 p.Arg41His LB/B rs12495784 - TSEN2 Q8NCE0 VAR_048932 p.Arg126His LB/B rs33955793 - TSEN2 Q8NCE0 VAR_054810 p.Tyr309Cys LP/P rs113994149 Pontocerebellar hypoplasia 2B (PCH2B) [MIM:612389] TSEN34 Q9BSV6 VAR_054811 p.Arg58Trp LP/P rs113994150 Pontocerebellar hypoplasia 2C (PCH2C) [MIM:612390] TSEN34 Q9BSV6 VAR_061149 p.Leu112Val LB/B rs17849378 - TSEN54 Q7Z6J9 VAR_019459 p.Glu4Asp LB/B rs7216673 - TSEN54 Q7Z6J9 VAR_019461 p.His38Gln LB/B rs8079373 - TSEN54 Q7Z6J9 VAR_019462 p.Lys347Asn LB/B rs9911502 - TSEN54 Q7Z6J9 VAR_019463 p.Ala437Val LB/B rs8064529 - TSEN54 Q7Z6J9 VAR_054812 p.Ser93Pro LP/P rs113994151 Pontocerebellar hypoplasia 4 (PCH4) [MIM:225753] TSEN54 Q7Z6J9 VAR_054813 p.Ala307Ser LP/P rs113994152 Pontocerebellar hypoplasia 2A (PCH2A) [MIM:277470] TSEN54 Q7Z6J9 VAR_054813 p.Ala307Ser LP/P rs113994152 Pontocerebellar hypoplasia 4 (PCH4) [MIM:225753] TSEN54 Q7Z6J9 VAR_057721 p.Ile137Leu LB/B rs11559205 - TSEN54 Q7Z6J9 VAR_057722 p.Gly525Arg LB/B rs11870627 - TSEN54 Q7Z6J9 VAR_073350 p.Glu85Val US rs1179247981 - TSEN54 Q7Z6J9 VAR_073351 p.Tyr119Asp LP/P - Pontocerebellar hypoplasia 2A (PCH2A) [MIM:277470] TSFM P43897 VAR_068973 p.Arg312Trp LP/P rs121909485 Combined oxidative phosphorylation deficiency 3 (COXPD3) [MIM:610505] TSFM P43897 VAR_077697 p.Cys240Ser LP/P rs750799705 Combined oxidative phosphorylation deficiency 3 (COXPD3) [MIM:610505] TSG101 Q99816 VAR_034572 p.Met167Ile LB/B rs34385327 - TSGA10IP Q3SY00 VAR_042855 p.Ala210Val LB/B rs565921 - TSGA10IP Q3SY00 VAR_042856 p.Arg237Ser LB/B rs7927388 - TSGA10IP Q3SY00 VAR_042857 p.Ser292Asn LB/B rs7927826 - TSGA10IP Q3SY00 VAR_042858 p.Arg305Pro LB/B rs7927841 - TSGA10IP Q3SY00 VAR_042859 p.Met521Val LB/B rs491973 - TSHB P01222 VAR_054769 p.Thr14Ala LB/B rs10776792 - TSHB P01222 VAR_087376 p.Thr73Pro LP/P - Hypothyroidism, congenital, non-goitrous, 4 (CHNG4) [MIM:275100] TSHR P16473 VAR_003564 p.Asp36His LB/B rs61747482 - TSHR P16473 VAR_003565 p.Pro52Thr LB/B rs2234919 - TSHR P16473 VAR_003566 p.Lys183Arg LP/P - Familial gestational hyperthyroidism (HTFG) [MIM:603373] TSHR P16473 VAR_003567 p.Phe197Ile US - Papillary cancer TSHR P16473 VAR_003568 p.Asp219Glu US - Papillary cancer TSHR P16473 VAR_003569 p.Ser281Ile US - - TSHR P16473 VAR_003570 p.Ser281Asn LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_003571 p.Ser505Asn LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_003572 p.Arg528His LB/B - - TSHR P16473 VAR_003573 p.Asp619Gly US - - TSHR P16473 VAR_003574 p.Ala623Ile US - - TSHR P16473 VAR_003575 p.Leu629Phe LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_003576 p.Asn715Asp US - Papillary cancer TSHR P16473 VAR_003577 p.Lys723Met US - Papillary cancer TSHR P16473 VAR_003578 p.Asp727Glu LB/B rs1991517 - TSHR P16473 VAR_011519 p.Cys41Ser LP/P - Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011520 p.Arg109Gln LP/P - Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011521 p.Pro162Ala LP/P rs121908863 Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011522 p.Ile167Asn LP/P - Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011523 p.Ser281Thr US - - TSHR P16473 VAR_011524 p.Arg310Cys LP/P - Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011525 p.Cys390Trp LP/P - Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011526 p.Asp410Asn LP/P - Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011527 p.Gly431Ser LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011528 p.Arg450His LP/P - Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011529 p.Met453Thr LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011530 p.Met463Val LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011531 p.Ile486Phe LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011532 p.Ile486Met LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011533 p.Gly498Ser LP/P - Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011534 p.Ser505Arg LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011535 p.Val509Ala LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011536 p.Leu512Arg US - - TSHR P16473 VAR_011537 p.Phe525Leu LP/P - Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011538 p.Ala553Thr LP/P - Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011539 p.Ile568Thr LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011540 p.Val597Leu US - - TSHR P16473 VAR_011541 p.Ile606Met LB/B - - TSHR P16473 VAR_011542 p.Ala623Val US - - TSHR P16473 VAR_011543 p.Ile630Leu US - - TSHR P16473 VAR_011544 p.Phe631Cys US - - TSHR P16473 VAR_011545 p.Phe631Leu LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011546 p.Thr632Ala LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011547 p.Thr632Ile LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011548 p.Asp633Ala US - - TSHR P16473 VAR_011549 p.Asp633Glu LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011550 p.Asp633His LB/B rs28937584 - TSHR P16473 VAR_011551 p.Asp633Tyr US - - TSHR P16473 VAR_011552 p.Pro639Ser LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011553 p.Ala647Val LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011554 p.Asn650Tyr LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011556 p.Asn670Ser LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011557 p.Cys672Tyr LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011558 p.Leu677Val US - Thyroid carcinoma TSHR P16473 VAR_011559 p.Ala703Gly LB/B - - TSHR P16473 VAR_011560 p.Gln720Glu LB/B - - TSHR P16473 VAR_017295 p.Leu467Pro LP/P - Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_017296 p.Thr477Ile LP/P - Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_017297 p.Cys600Arg LP/P - Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_021495 p.Leu252Pro LP/P - Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_021496 p.Ser425Ile US - - TSHR P16473 VAR_021497 p.Leu512Gln US - - TSHR P16473 VAR_021498 p.Ala593Asn US - - TSHR P16473 VAR_021499 p.Val597Phe LP/P - Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_021500 p.Pro639Ala US - - TSHR P16473 VAR_021501 p.Val656Phe US - - TSHR P16473 VAR_055925 p.Glu34Lys LB/B rs45499704 - TSHR P16473 VAR_075585 p.Asn432Asp LP/P - Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_075586 p.Pro449Leu LP/P - Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] TSHZ1 Q6ZSZ6 VAR_061926 p.Leu666Pro LB/B rs55679337 - TSHZ2 Q9NRE2 VAR_026679 p.Arg113Ser LB/B rs739869 - TSHZ2 Q9NRE2 VAR_026680 p.Ala681Thr LB/B rs6097319 - TSHZ3 Q63HK5 VAR_052708 p.Pro687Leu LB/B rs4805664 - TSHZ3 Q63HK5 VAR_063635 p.Glu469Gly LB/B rs143453460 - TSKS Q9UJT2 VAR_036272 p.Gly19Arg US rs149529240 A colorectal cancer sample TSKS Q9UJT2 VAR_051459 p.Glu167Lys LB/B rs34701020 - TSKS Q9UJT2 VAR_051460 p.Asp382Gly LB/B rs2304202 - TSKU Q8WUA8 VAR_026726 p.Asp344Glu LB/B rs1149621 - TSKU Q8WUA8 VAR_028725 p.Arg208Cys LB/B rs3740772 - TSKU Q8WUA8 VAR_028726 p.Ser248Asn LB/B rs11236938 - TSKU Q8WUA8 VAR_028727 p.Val308Ile LB/B rs3740771 - TSNARE1 Q96NA8 VAR_051461 p.Arg55Pro LB/B rs33970858 - TSNARE1 Q96NA8 VAR_051462 p.Thr118Ala LB/B rs10100935 - TSNARE1 Q96NA8 VAR_051463 p.Val268Ile LB/B rs10435683 - TSNARE1 Q96NA8 VAR_055146 p.Phe18Leu LB/B rs7814359 - TSPAN1 O60635 VAR_034573 p.Val87Met LB/B rs2234268 - TSPAN1 O60635 VAR_052327 p.Ser38Phe LB/B rs2234267 - TSPAN10 Q9H1Z9 VAR_057277 p.Arg187His LB/B rs34896443 - TSPAN10 Q9H1Z9 VAR_061849 p.Tyr218His LB/B rs34379910 - TSPAN11 A1L157 VAR_037337 p.Val190Ala LB/B rs2075333 - TSPAN12 O95859 VAR_062253 p.Leu57Ser LB/B rs17852934 - TSPAN12 O95859 VAR_063576 p.Leu101His LP/P rs267607152 Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310] TSPAN12 O95859 VAR_063577 p.Gly188Arg LP/P rs267607151 Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310] TSPAN12 O95859 VAR_063578 p.Met210Arg LP/P - Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310] TSPAN12 O95859 VAR_063579 p.Ala237Pro LP/P rs267607154 Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310] TSPAN12 O95859 VAR_068899 p.Thr49Met LP/P rs538591733 Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310] TSPAN12 O95859 VAR_068900 p.Tyr138Cys LP/P rs587777283 Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310] TSPAN12 O95859 VAR_068901 p.Leu223Pro LP/P - Vitreoretinopathy, exudative 5 (EVR5) [MIM:613310] TSPAN16 Q9UKR8 VAR_052329 p.Tyr53Asp LB/B rs34162761 - TSPAN16 Q9UKR8 VAR_052330 p.Leu55Pro LB/B rs17001344 - TSPAN16 Q9UKR8 VAR_052331 p.Ser233Cys LB/B rs318687 - TSPAN17 Q96FV3 VAR_057278 p.Ile140Thr LB/B rs17624798 - TSPAN18 Q96SJ8 VAR_057279 p.Val133Ile LB/B rs2291334 - TSPAN2 O60636 VAR_052328 p.Arg118Leu LB/B rs9659602 - TSPAN4 O14817 VAR_036616 p.Ile67Met US - A breast cancer sample TSPAN6 O43657 VAR_014494 p.Ala108Thr LB/B rs1802288 - TSPAN7 P41732 VAR_009259 p.Pro172His LP/P rs104894951 Intellectual developmental disorder, X-linked 58 (XLID58) [MIM:300210] TSPAN7 P41732 VAR_037905 p.Glu53Lys LB/B rs17851592 - TSPAN7 P41732 VAR_037906 p.Ala127Thr LB/B rs17851593 - TSPAN8 P19075 VAR_012054 p.Ser213Ala LB/B rs1051334 - TSPAN8 P19075 VAR_020093 p.Gly73Ala LB/B rs3763978 - TSPAN8 P19075 VAR_061848 p.Val35Ile LB/B rs17849952 - TSPEAR Q8WU66 VAR_036271 p.Ala166Thr US rs782068174 A colorectal cancer sample TSPEAR Q8WU66 VAR_081734 p.Val576Phe US rs782543541 Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis (ECTD14) [MIM:618180] TSPEAR Q8WU66 VAR_081735 p.Tyr618Asn US rs781868760 Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis (ECTD14) [MIM:618180] TSPEAR Q8WU66 VAR_081736 p.Asp639Asn US rs138480801 Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis (ECTD14) [MIM:618180] TSPEAR Q8WU66 VAR_081736 p.Asp639Asn US rs138480801 Tooth agenesis, selective, 10 (STHAG10) [MIM:620173] TSPEAR Q8WU66 VAR_087915 p.Cys80Trp US - Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis (ECTD14) [MIM:618180] TSPEAR Q8WU66 VAR_087916 p.Pro178Leu US - Deafness, autosomal recessive, 98 (DFNB98) [MIM:614861] TSPEAR Q8WU66 VAR_087919 p.Val388Ala US - Deafness, autosomal recessive, 98 (DFNB98) [MIM:614861] TSPEAR Q8WU66 VAR_087920 p.Arg444Gln US - Tooth agenesis, selective, 10 (STHAG10) [MIM:620173] TSPEAR Q8WU66 VAR_087921 p.Arg444Trp US - Tooth agenesis, selective, 10 (STHAG10) [MIM:620173] TSPEAR Q8WU66 VAR_087922 p.Leu490Gln US - Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis (ECTD14) [MIM:618180] TSPEAR Q8WU66 VAR_087924 p.Gly525Asp US - Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis (ECTD14) [MIM:618180] TSPEAR Q8WU66 VAR_087926 p.Ser585Ile US - Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis (ECTD14) [MIM:618180] TSPEAR Q8WU66 VAR_087927 p.Phe626Ser US - Tooth agenesis, selective, 10 (STHAG10) [MIM:620173] TSPO B1AH88 VAR_059840 p.His53Arg LB/B rs6971 - TSPO P30536 VAR_013617 p.Thr147Ala LB/B rs6971 - TSPO P30536 VAR_013618 p.Arg162His LB/B rs6972 - TSPO P30536 VAR_018868 p.Glu169Gln LB/B rs9333342 - TSPOAP1 O95153 VAR_017446 p.Gln514Arg LB/B rs2072145 - TSPOAP1 O95153 VAR_017447 p.Ala586Thr LB/B rs2072147 - TSPOAP1 O95153 VAR_017448 p.His1118Leu LB/B rs3744099 - TSPOAP1 O95153 VAR_017449 p.Ala1140Pro LB/B rs2680704 - TSPOAP1 O95153 VAR_017450 p.Arg1253Cys LB/B rs3744101 - TSPOAP1 O95153 VAR_017451 p.Gly1830Glu LB/B rs2301868 - TSPOAP1 O95153 VAR_031662 p.Gln817Arg LB/B rs9913145 - TSPOAP1 O95153 VAR_031663 p.Trp851Arg LB/B rs9905604 - TSPOAP1 O95153 VAR_031664 p.His1728Arg LB/B rs11079346 - TSPOAP1 O95153 VAR_070193 p.Gly652Arg LB/B rs373894175 - TSPOAP1 O95153 VAR_088765 p.Gly1808Ser LP/P - Dystonia 22, adult-onset (DYT22AO) [MIM:620456] TSPY1 Q01534 VAR_016227 p.Pro195Arg LB/B - - TSPY1 Q01534 VAR_016228 p.Ile216Phe LB/B - - TSPY26P Q9H489 VAR_020256 p.Pro246His LB/B rs3813922 - TSPYL1 Q9H0U9 VAR_016229 p.Pro62Ser LB/B rs3828743 - TSPYL1 Q9H0U9 VAR_016230 p.Ala74Pro LB/B rs3749895 - TSPYL1 Q9H0U9 VAR_046722 p.Ala181Thr LB/B rs3749894 - TSPYL2 Q9H2G4 VAR_075536 p.Ile262Met US - - TSPYL4 Q9UJ04 VAR_050228 p.Arg30Leu LB/B rs2232470 - TSPYL5 Q86VY4 VAR_035393 p.Thr120Ser LB/B rs2635164 - TSPYL5 Q86VY4 VAR_035394 p.Ile365Val LB/B rs17854366 - TSPYL6 Q8N831 VAR_035395 p.Ala60Val LB/B rs6743719 - TSPYL6 Q8N831 VAR_035396 p.Gly109Ser LB/B rs843704 - TSPYL6 Q8N831 VAR_035397 p.Pro116Leu LB/B rs13424808 - TSPYL6 Q8N831 VAR_035398 p.Arg246Cys LB/B rs17189743 - TSR1 Q2NL82 VAR_037211 p.Ser386Gly LB/B rs2281726 - TSR1 Q2NL82 VAR_037212 p.Asn719Ser LB/B rs2273983 - TSR1 Q2NL82 VAR_037213 p.Lys727Gln LB/B rs35019711 - TSR1 Q2NL82 VAR_037214 p.His750Gln LB/B rs35343613 - TSR2 Q969E8 VAR_073396 p.Glu64Gly LP/P rs786203996 Diamond-Blackfan anemia 14, with mandibulofacial dysostosis (DBA14) [MIM:300946] TSSC4 Q9Y5U2 VAR_057826 p.His17Pro LB/B rs2234278 - TSSC4 Q9Y5U2 VAR_057827 p.Arg230Ser LB/B rs2234280 - TSSC4 Q9Y5U2 VAR_057828 p.Gly262Arg LB/B rs2234281 - TSSC4 Q9Y5U2 VAR_060194 p.Arg124Gln LB/B rs1008265 - TSSC4 Q9Y5U2 VAR_063128 p.His274Pro LB/B rs2234283 - TSSK1B Q9BXA7 VAR_041235 p.Ala50Thr LB/B rs747955728 - TSSK1B Q9BXA7 VAR_041236 p.His83Tyr LB/B rs55930004 - TSSK1B Q9BXA7 VAR_041237 p.Val233Leu LB/B rs55940513 - TSSK1B Q9BXA7 VAR_041238 p.Arg237Cys LB/B rs55738530 - TSSK1B Q9BXA7 VAR_041239 p.Gly288Trp LB/B rs34696815 - TSSK1B Q9BXA7 VAR_041240 p.Gly293Glu LB/B rs11953478 - TSSK2 Q96PF2 VAR_041241 p.Lys27Arg LB/B rs3747052 - TSSK2 Q96PF2 VAR_041242 p.Met61Val LB/B rs35532431 - TSSK2 Q96PF2 VAR_041243 p.Tyr197Cys LB/B rs56279111 - TSSK2 Q96PF2 VAR_041244 p.Thr280Met LB/B rs1052763 - TSSK2 Q96PF2 VAR_051677 p.Glu244Lys LB/B rs35048893 - TSSK2 Q96PF2 VAR_059770 p.Cys245Ser LB/B rs8140743 - TSSK3 Q96PN8 VAR_041245 p.Ala140Thr LB/B rs55786268 - TSSK3 Q96PN8 VAR_041246 p.Ser235Leu LB/B rs35457991 - TSSK3 Q96PN8 VAR_051678 p.Ile71Val LB/B rs35508255 - TSSK4 Q6SA08 VAR_041247 p.His33Tyr LB/B rs36036137 - TSSK4 Q6SA08 VAR_041248 p.Tyr89Cys LB/B rs34083933 - TSSK4 Q6SA08 VAR_041249 p.Val145Met LB/B rs35468205 - TSSK4 Q6SA08 VAR_041250 p.Gln196Arg LB/B rs1270764 - TSSK4 Q6SA08 VAR_041251 p.Thr327Met LB/B rs35244223 - TST Q16762 VAR_051799 p.Glu102Asp LB/B rs35156365 - TST Q16762 VAR_051800 p.Glu228Gly LB/B rs1049270 - TSTD2 Q5T7W7 VAR_050842 p.Arg83Gln LB/B rs2773347 - TSTD2 Q5T7W7 VAR_050843 p.Ala109Asp LB/B rs10817858 - TTBK1 Q5TCY1 VAR_041252 p.Pro613Leu LB/B rs34993661 - TTBK1 Q5TCY1 VAR_041253 p.Gly623Ala LB/B rs3800294 - TTBK1 Q5TCY1 VAR_041254 p.Pro649Arg LB/B rs35175743 - TTBK1 Q5TCY1 VAR_041255 p.Asp741Glu LB/B rs56377340 - TTBK1 Q5TCY1 VAR_041256 p.Glu744Asp LB/B rs3800295 - TTBK1 Q5TCY1 VAR_041257 p.Ser806Phe US - A lung large cell carcinoma sample TTBK1 Q5TCY1 VAR_041258 p.Pro855Ser US rs267601046 A metastatic melanoma sample TTBK1 Q5TCY1 VAR_041259 p.Lys1145Arg LB/B rs3800297 - TTBK1 Q5TCY1 VAR_041260 p.Leu1184Ser LB/B rs3800298 - TTBK2 Q6IQ55 VAR_041261 p.Leu8Pro LB/B rs6493068 - TTBK2 Q6IQ55 VAR_041262 p.Arg120Gln LB/B rs35328266 - TTBK2 Q6IQ55 VAR_041263 p.Thr313Ala LB/B rs56017612 - TTBK2 Q6IQ55 VAR_041264 p.Val440Met LB/B rs56311523 - TTBK2 Q6IQ55 VAR_041265 p.Arg500Pro LB/B rs56039839 - TTBK2 Q6IQ55 VAR_041266 p.Asp635Gly US - A lung small cell carcinoma sample TTBK2 Q6IQ55 VAR_041267 p.Thr1062Ile LB/B rs55833708 - TTBK2 Q6IQ55 VAR_041268 p.Thr1084Met LB/B rs34348991 - TTBK2 Q6IQ55 VAR_041269 p.Val1097Ala LB/B rs55796513 - TTBK2 Q6IQ55 VAR_041270 p.Pro1122Arg LB/B rs56142516 - TTBK2 Q6IQ55 VAR_041271 p.Lys1241Thr LB/B rs36104367 - TTBK2 Q6IQ55 VAR_069052 p.Glu842Gly US rs202004988 - TTBK2 Q6IQ55 VAR_069053 p.Arg1110His US rs146279300 - TTBK2 Q6IQ55 VAR_076383 p.Lys367Ile LB/B rs764753481 - TTBK2 Q6IQ55 VAR_076384 p.Gly724Glu LB/B rs201524659 - TTC1 Q99614 VAR_081225 p.Asn290Ser LB/B rs553283797 - TTC12 Q9H892 VAR_031431 p.Met73Leu LB/B rs723077 - TTC12 Q9H892 VAR_031432 p.Met468Leu LB/B rs35852218 - TTC12 Q9H892 VAR_061903 p.Val563Ala LB/B rs35303225 - TTC12 Q9H892 VAR_083925 p.Met567Arg LP/P rs372955658 Ciliary dyskinesia, primary, 45 (CILD45) [MIM:618801] TTC16 Q8NEE8 VAR_025542 p.Met405Thr LB/B rs17852941 - TTC16 Q8NEE8 VAR_025543 p.Glu588Gly LB/B rs13298768 - TTC16 Q8NEE8 VAR_025544 p.Ala872Ser LB/B rs17852943 - TTC16 Q8NEE8 VAR_052626 p.Tyr809Cys LB/B rs4837178 - TTC17 Q96AE7 VAR_034135 p.Ile145Leu LB/B rs12099204 - TTC17 Q96AE7 VAR_052627 p.Asn270His LB/B rs16937479 - TTC21A Q8NDW8 VAR_032879 p.Arg91Gln LB/B rs1112438 - TTC21A Q8NDW8 VAR_032880 p.Val108Leu LB/B rs17855763 - TTC21A Q8NDW8 VAR_032881 p.Arg290Lys LB/B rs1274972 - TTC21A Q8NDW8 VAR_032882 p.Glu293Lys LB/B rs1274971 - TTC21A Q8NDW8 VAR_032883 p.Arg622Trp LB/B rs35581078 - TTC21A Q8NDW8 VAR_032884 p.Arg719Gln LB/B rs9861353 - TTC21A Q8NDW8 VAR_032885 p.Arg1055Leu LB/B rs35934336 - TTC21A Q8NDW8 VAR_032886 p.Ser1160Arg LB/B rs34201693 - TTC21A Q8NDW8 VAR_032887 p.Arg1316Lys LB/B rs704959 - TTC21A Q8NDW8 VAR_059861 p.Arg719His LB/B rs9861353 - TTC21A Q8NDW8 VAR_082207 p.Tyr114Cys LP/P rs750057655 Spermatogenic failure 37 (SPGF37) [MIM:618429] TTC21B Q7Z4L5 VAR_032888 p.Val201Met LB/B rs1432273 - TTC21B Q7Z4L5 VAR_032889 p.Thr276Ala LB/B rs7592429 - TTC21B Q7Z4L5 VAR_032890 p.Pro463Ser LB/B rs16851307 - TTC21B Q7Z4L5 VAR_032891 p.Leu473Phe LB/B rs2163649 - TTC21B Q7Z4L5 VAR_032892 p.Lys846Arg LB/B rs7595010 - TTC21B Q7Z4L5 VAR_065514 p.Phe60Tyr US rs371571631 - TTC21B Q7Z4L5 VAR_065515 p.Lys66Arg LB/B - - TTC21B Q7Z4L5 VAR_065516 p.Trp150Arg LP/P - Nephronophthisis 12 (NPHP12) [MIM:613820] TTC21B Q7Z4L5 VAR_065517 p.Lys157Glu US - - TTC21B Q7Z4L5 VAR_065518 p.Pro209Leu LP/P rs140511594 Nephronophthisis 12 (NPHP12) [MIM:613820] TTC21B Q7Z4L5 VAR_065519 p.Gln222Leu US rs80026831 - TTC21B Q7Z4L5 VAR_065520 p.Thr231Ser LP/P rs149925563 Nephronophthisis 12 (NPHP12) [MIM:613820] TTC21B Q7Z4L5 VAR_065520 p.Thr231Ser LP/P rs149925563 Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4) [MIM:613819] TTC21B Q7Z4L5 VAR_065521 p.Asp242Asn LB/B rs74447004 - TTC21B Q7Z4L5 VAR_065522 p.Tyr255Cys LB/B rs377061787 - TTC21B Q7Z4L5 VAR_065523 p.Met280Val US rs112868646 - TTC21B Q7Z4L5 VAR_065524 p.Ala327Ser US - - TTC21B Q7Z4L5 VAR_065525 p.Tyr347Cys US rs779121249 - TTC21B Q7Z4L5 VAR_065526 p.Arg411Gly LB/B rs185089786 - TTC21B Q7Z4L5 VAR_065527 p.Gln412Arg LB/B rs199873923 - TTC21B Q7Z4L5 VAR_065528 p.Asp424Glu LB/B rs533077805 - TTC21B Q7Z4L5 VAR_065529 p.His566Arg US rs146320075 Nephronophthisis 12 (NPHP12) [MIM:613820] TTC21B Q7Z4L5 VAR_065530 p.Ser591Asn LP/P - Joubert syndrome 11 (JBTS11) [MIM:613820] TTC21B Q7Z4L5 VAR_065531 p.Arg616Cys LB/B rs139441507 - TTC21B Q7Z4L5 VAR_065532 p.Ile624Val LB/B rs77106136 - TTC21B Q7Z4L5 VAR_065533 p.His645Arg LB/B rs200291881 - TTC21B Q7Z4L5 VAR_065534 p.Ser724Thr LB/B rs759317777 - TTC21B Q7Z4L5 VAR_065535 p.Pro753Leu US rs539769126 - TTC21B Q7Z4L5 VAR_065536 p.Asp755Tyr LP/P - Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4) [MIM:613819] TTC21B Q7Z4L5 VAR_065537 p.Leu795Pro LP/P rs387907060 Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4) [MIM:613819] TTC21B Q7Z4L5 VAR_065538 p.Met844Val US rs766811699 - TTC21B Q7Z4L5 VAR_065539 p.Arg867Cys LP/P rs746700857 Joubert syndrome 11 (JBTS11) [MIM:613820] TTC21B Q7Z4L5 VAR_065540 p.Arg867His LB/B rs76726265 - TTC21B Q7Z4L5 VAR_065541 p.Gln869Arg US rs137926033 - TTC21B Q7Z4L5 VAR_065542 p.Arg939Gln LB/B rs751382210 - TTC21B Q7Z4L5 VAR_065543 p.Arg939Trp LB/B rs151227843 - TTC21B Q7Z4L5 VAR_065544 p.Leu1002Val US rs146496725 - TTC21B Q7Z4L5 VAR_065545 p.Met1011Val LB/B rs761842893 - TTC21B Q7Z4L5 VAR_065546 p.Tyr1035Cys LB/B rs757541819 - TTC21B Q7Z4L5 VAR_065547 p.Asp1041Asn US - - TTC21B Q7Z4L5 VAR_065548 p.Thr1103Arg LB/B rs1482808126 - TTC21B Q7Z4L5 VAR_065549 p.Tyr1167Cys LP/P rs1040877016 Nephronophthisis 12 (NPHP12) [MIM:613820] TTC21B Q7Z4L5 VAR_065550 p.Met1186Val LP/P rs376308209 Joubert syndrome 11 (JBTS11) [MIM:613820] TTC21B Q7Z4L5 VAR_065551 p.Ile1208Ser LB/B rs189519760 - TTC21B Q7Z4L5 VAR_065552 p.Asp1284His LB/B rs139537546 - TTC21B Q7Z4L5 VAR_065553 p.Arg1311Gly LB/B - - TTC21B Q7Z4L5 VAR_068172 p.Met1011Thr LP/P rs777427926 Joubert syndrome 11 (JBTS11) [MIM:613820] TTC22 Q5TAA0 VAR_029585 p.Leu14Val LB/B rs671108 - TTC23L Q6PF05 VAR_043539 p.His22Arg LB/B rs6451173 - TTC23L Q6PF05 VAR_043540 p.Lys67Glu LB/B rs6866035 - TTC23L Q6PF05 VAR_043541 p.Thr150Met LB/B rs34566695 - TTC23L Q6PF05 VAR_043542 p.Asn153Asp LB/B rs35769440 - TTC23L Q6PF05 VAR_043543 p.Lys247Asn LB/B rs34702907 - TTC23L Q6PF05 VAR_043544 p.Arg325Lys LB/B rs35665026 - TTC24 A2A3L6 VAR_036643 p.Glu231Gly LB/B rs6682716 - TTC24 A2A3L6 VAR_036644 p.Pro532Ala LB/B rs17392348 - TTC24 A2A3L6 VAR_036645 p.Asn550Ser LB/B rs12090808 - TTC27 Q6P3X3 VAR_033207 p.Tyr476Cys LB/B rs2273660 - TTC27 Q6P3X3 VAR_033208 p.Arg525His LB/B rs2273664 - TTC27 Q6P3X3 VAR_052628 p.Arg586His LB/B rs17012268 - TTC27 Q6P3X3 VAR_061905 p.Thr498Met LB/B rs34188947 - TTC29 Q8NA56 VAR_033179 p.Leu94Pro LB/B rs35123039 - TTC29 Q8NA56 VAR_033180 p.His140Tyr LB/B rs17610219 - TTC29 Q8NA56 VAR_033181 p.Ala276Thr LB/B rs10013280 - TTC3 P53804 VAR_020312 p.Met840Thr LB/B rs1053808 - TTC3 P53804 VAR_024676 p.Asp1751His LB/B rs1053966 - TTC3 P53804 VAR_035868 p.Lys1289Met US - A breast cancer sample TTC3 P53804 VAR_044428 p.Pro1154Ser LB/B rs1053840 - TTC3 P53804 VAR_082645 p.Ser1038Cys LB/B rs377155188 - TTC31 Q49AM3 VAR_047357 p.Ala28Val LB/B rs6707475 - TTC31 Q49AM3 VAR_047358 p.Thr205Pro LB/B rs35852562 - TTC33 Q6PID6 VAR_032317 p.Leu69Met LB/B rs837105 - TTC36 A6NLP5 VAR_042972 p.Ile78Met LB/B rs7111428 - TTC38 Q5R3I4 VAR_039344 p.Phe243Leu LB/B rs130642 - TTC39B Q5VTQ0 VAR_032926 p.Ile420Val LB/B rs1407977 - TTC39B Q5VTQ0 VAR_054078 p.Thr128Pro LB/B rs10961917 - TTC4 O95801 VAR_031713 p.Ser47Thr LB/B rs1147990 - TTC5 Q8N0Z6 VAR_034131 p.Gln14His LB/B rs34675160 - TTC5 Q8N0Z6 VAR_055293 p.Gln47Arg LB/B rs3742945 - TTC5 Q8N0Z6 VAR_085226 p.Tyr210Cys US - Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism (NEDCAFD) [MIM:619244] TTC5 Q8N0Z6 VAR_085227 p.Ala231Val US rs749799203 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism (NEDCAFD) [MIM:619244] TTC6 Q86TZ1 VAR_024677 p.Thr140Ile LB/B rs4901284 - TTC6 Q86TZ1 VAR_034132 p.Ile87Ser LB/B rs12896790 - TTC6 Q86TZ1 VAR_034133 p.Ala98Thr LB/B rs17768654 - TTC6 Q86TZ1 VAR_034134 p.Thr376Ser LB/B rs17107176 - TTC7A Q9ULT0 VAR_016602 p.Val538Leu LB/B rs2304290 - TTC7A Q9ULT0 VAR_052624 p.Val545Ile LB/B rs6755258 - TTC7A Q9ULT0 VAR_069636 p.Leu823Pro LP/P rs587776972 Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) [MIM:243150] TTC7A Q9ULT0 VAR_075126 p.Glu71Lys LP/P rs147914967 Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) [MIM:243150] TTC7A Q9ULT0 VAR_075129 p.Leu346Pro LP/P - Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) [MIM:243150] TTC7A Q9ULT0 VAR_075130 p.Leu399Pro LP/P - Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) [MIM:243150] TTC7A Q9ULT0 VAR_075132 p.Ser539Leu LP/P rs776906926 Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) [MIM:243150] TTC7A Q9ULT0 VAR_075133 p.Ala551Asp LP/P - Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) [MIM:243150] TTC7A Q9ULT0 VAR_075134 p.Lys606Arg LP/P rs139010200 Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) [MIM:243150] TTC7A Q9ULT0 VAR_075135 p.Ser672Pro LP/P rs149602485 Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) [MIM:243150] TTC7A Q9ULT0 VAR_075139 p.Ala832Thr LP/P rs876657393 Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) [MIM:243150] TTC9 Q92623 VAR_060330 p.Pro103Ala LB/B rs4902834 - TTC9B Q8N6N2 VAR_052625 p.Leu223Pro LB/B rs11553464 - TTF1 Q15361 VAR_027563 p.Glu35Lys LB/B rs11550314 - TTF1 Q15361 VAR_027564 p.Ala290Ser LB/B rs8999 - TTF1 Q15361 VAR_027565 p.Val303Ala LB/B rs3739914 - TTF1 Q15361 VAR_027566 p.Gly360Val LB/B rs3739915 - TTF1 Q15361 VAR_027567 p.Arg401Gln LB/B rs3739916 - TTF1 Q15361 VAR_050201 p.Glu473Lys LB/B rs12336746 - TTF1 Q15361 VAR_061363 p.Ala885Val LB/B rs1752676 - TTF2 Q9UNY4 VAR_023393 p.Lys167Glu LB/B rs998532 - TTF2 Q9UNY4 VAR_034431 p.Lys213Arg LB/B rs7535524 - TTF2 Q9UNY4 VAR_061234 p.Glu256Gly LB/B rs34334470 - TTF2 Q9UNY4 VAR_061235 p.Lys1134Arg LB/B rs41276572 - TTF2 Q9UNY4 VAR_061236 p.Asp1155His LB/B rs34236116 - TTI1 O43156 VAR_014082 p.Ala671Val LB/B rs1057238 - TTI1 O43156 VAR_014083 p.Ala979Thr LB/B rs1064275 - TTI1 O43156 VAR_034033 p.Arg450His LB/B rs36059660 - TTI1 O43156 VAR_034034 p.Arg1028Lys LB/B rs34900517 - TTI1 O43156 VAR_049509 p.Lys751Glu LB/B rs6091654 - TTI2 Q6NXR4 VAR_030886 p.Glu63Gly LB/B rs2304748 - TTI2 Q6NXR4 VAR_030887 p.Leu425Arg LB/B rs3736497 - TTI2 Q6NXR4 VAR_070671 p.Ile436Asn LP/P rs398122367 Intellectual developmental disorder, autosomal recessive 39 (MRT39) [MIM:615541] TTK P33981 VAR_037141 p.Ala97Val LB/B rs2230513 - TTK P33981 VAR_037142 p.Asp758Asn LB/B rs2230512 - TTLL1 O95922 VAR_052409 p.Ser168Leu LB/B rs6003030 - TTLL10 Q6ZVT0 VAR_039806 p.Ala130Thr US rs139755178 A colorectal cancer sample TTLL10 Q6ZVT0 VAR_039807 p.Val249Ala LB/B rs13374146 - TTLL10 Q6ZVT0 VAR_039808 p.Ser448Asn LB/B rs1320571 - TTLL10 Q6ZVT0 VAR_058480 p.Gly578Asp LB/B rs2274791 - TTLL12 Q14166 VAR_052413 p.Arg84Trp LB/B rs138951 - TTLL12 Q14166 VAR_052414 p.Asn95Ser LB/B rs13058467 - TTLL12 Q14166 VAR_052415 p.Val297Met LB/B rs11704935 - TTLL12 Q14166 VAR_052416 p.Val464Met LB/B rs34074034 - TTLL13 A6NNM8 VAR_057318 p.Ala126Thr LB/B rs12912620 - TTLL13 A6NNM8 VAR_057319 p.Thr262Ile LB/B rs2063743 - TTLL2 Q9BWV7 VAR_028119 p.Gly3Arg LB/B rs12526094 - TTLL2 Q9BWV7 VAR_028120 p.Thr127Ala LB/B rs11540664 - TTLL2 Q9BWV7 VAR_028121 p.Leu202Pro LB/B rs6936639 - TTLL2 Q9BWV7 VAR_028122 p.Arg425Gly LB/B rs909545 - TTLL2 Q9BWV7 VAR_028123 p.Gly445Ser LB/B rs9457304 - TTLL2 Q9BWV7 VAR_028124 p.Gln529His LB/B rs12528714 - TTLL2 Q9BWV7 VAR_057312 p.Pro63Ser LB/B rs34350976 - TTLL2 Q9BWV7 VAR_057313 p.Ile356Val LB/B rs34286114 - TTLL2 Q9BWV7 VAR_057314 p.Val559Ile LB/B rs34931196 - TTLL2 Q9BWV7 VAR_061866 p.Lys441Thr LB/B rs41266331 - TTLL3 Q9Y4R7 VAR_020207 p.Met502Arg LB/B rs2290305 - TTLL3 Q9Y4R7 VAR_036054 p.Gly454Ser US - A colorectal cancer sample TTLL3 Q9Y4R7 VAR_036055 p.Met476Ile US - A colorectal cancer sample TTLL3 Q9Y4R7 VAR_052410 p.Glu174Lys LB/B rs3806669 - TTLL3 Q9Y4R7 VAR_052411 p.Asn418His LB/B rs2290302 - TTLL3 Q9Y4R7 VAR_052412 p.Ala689Thr LB/B rs1057278 - TTLL4 Q14679 VAR_013140 p.Arg418His LB/B rs2114664 - TTLL4 Q14679 VAR_031464 p.Asn17Ser LB/B rs11542786 - TTLL4 Q14679 VAR_031465 p.Glu34Gln LB/B rs3731877 - TTLL4 Q14679 VAR_031466 p.Leu364Pro LB/B rs3731875 - TTLL4 Q14679 VAR_031467 p.Gly518Ser LB/B rs17851914 - TTLL4 Q14679 VAR_031468 p.Ser524Gly LB/B rs17851915 - TTLL4 Q14679 VAR_031469 p.Ala852Ser LB/B rs17856640 - TTLL4 Q14679 VAR_057315 p.Thr1138Ile LB/B rs9989776 - TTLL5 Q6EMB2 VAR_057895 p.Ala149Val LB/B rs2303345 - TTLL5 Q6EMB2 VAR_057896 p.Glu203Asp LB/B rs17856074 - TTLL5 Q6EMB2 VAR_057897 p.Ala592Thr LB/B rs11848004 - TTLL5 Q6EMB2 VAR_057898 p.Ala1223Ser LB/B rs10130991 - TTLL5 Q6EMB2 VAR_057899 p.Pro1231Thr LB/B rs11844617 - TTLL5 Q6EMB2 VAR_057900 p.Phe1267Ser LB/B rs1133834 - TTLL5 Q6EMB2 VAR_071327 p.Glu543Lys LP/P rs199882533 Cone-rod dystrophy 19 (CORD19) [MIM:615860] TTLL6 Q8N841 VAR_039993 p.Glu712Asp LB/B rs2032844 - TTLL8 A6PVC2 VAR_057316 p.Arg191His LB/B rs17013076 - TTLL8 A6PVC2 VAR_057317 p.Glu294Lys LB/B rs9628315 - TTLL8 A6PVC2 VAR_061867 p.Leu127Trp LB/B rs59727397 - TTLL9 Q3SXZ7 VAR_039805 p.Tyr76Cys LB/B rs17093689 - TTMP Q5BVD1 VAR_027203 p.Ile111Val LB/B rs16859190 - TTMP Q5BVD1 VAR_027204 p.Gly144Ser LB/B rs340167 - TTMP Q5BVD1 VAR_059736 p.Leu66Pro LB/B rs16859172 - TTN Q8WZ42 VAR_026634 p.Arg279Trp LP/P rs138060032 Myopathy, myofibrillar, 9, with early respiratory failure (MFM9) [MIM:603689] TTN Q8WZ42 VAR_026635 p.Thr4215Pro LB/B rs2562829 - TTN Q8WZ42 VAR_026636 p.Leu4283Phe LB/B rs1883085 - TTN Q8WZ42 VAR_026685 p.Val54Met LP/P rs139517732 Cardiomyopathy, dilated, 1G (CMD1G) [MIM:604145] TTN Q8WZ42 VAR_026686 p.Arg328Cys LB/B rs16866538 - TTN Q8WZ42 VAR_026687 p.Arg740Leu LP/P rs28933405 Cardiomyopathy, familial hypertrophic, 9 (CMH9) [MIM:613765] TTN Q8WZ42 VAR_026688 p.Ala743Val LP/P rs267607157 Cardiomyopathy, dilated, 1G (CMD1G) [MIM:604145] TTN Q8WZ42 VAR_026689 p.Trp976Arg LP/P rs267607155 Cardiomyopathy, dilated, 1G (CMD1G) [MIM:604145] TTN Q8WZ42 VAR_026690 p.Ser3799Tyr LP/P - Cardiomyopathy, dilated, 1G (CMD1G) [MIM:604145] TTN Q8WZ42 VAR_026691 p.Arg4084Gln LB/B rs200431386 - TTN Q8WZ42 VAR_026692 p.Ser4465Asn LP/P rs281864908 Cardiomyopathy, dilated, 1G (CMD1G) [MIM:604145] TTN Q8WZ42 VAR_026693 p.Arg32996Gln LP/P rs199642423 Cardiomyopathy, dilated, 1G (CMD1G) [MIM:604145] TTN Q8WZ42 VAR_026694 p.Ile34306Asn LP/P rs281864928 Tardive tibial muscular dystrophy (TMD) [MIM:600334] TTN Q8WZ42 VAR_026695 p.Leu34315Pro LP/P rs267607156 Tardive tibial muscular dystrophy (TMD) [MIM:600334] TTN Q8WZ42 VAR_040078 p.Asp60Tyr LB/B rs35683768 - TTN Q8WZ42 VAR_040079 p.Val115Met US rs564777385 A metastatic melanoma sample TTN Q8WZ42 VAR_040080 p.Arg360Thr LB/B rs56128843 - TTN Q8WZ42 VAR_040081 p.Val498Ile LB/B rs72647851 - TTN Q8WZ42 VAR_040082 p.Thr799Met US rs149061352 A colorectal adenocarcinoma sample TTN Q8WZ42 VAR_040083 p.Thr811Ile LB/B rs35813871 - TTN Q8WZ42 VAR_040084 p.Arg922His LB/B rs56046320 - TTN Q8WZ42 VAR_040085 p.Glu937Asp US - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040086 p.Ala1081Thr LB/B rs55914517 - TTN Q8WZ42 VAR_040087 p.Gly1137Arg LB/B rs72647870 - TTN Q8WZ42 VAR_040088 p.Lys1201Glu LB/B rs10497520 - TTN Q8WZ42 VAR_040089 p.Val1202Ala LB/B rs150667217 - TTN Q8WZ42 VAR_040090 p.Ser1295Leu LB/B rs1552280 - TTN Q8WZ42 VAR_040091 p.Gly1345Asp LB/B rs36021856 - TTN Q8WZ42 VAR_040092 p.Ala1347Thr US rs267599092 A metastatic melanoma sample TTN Q8WZ42 VAR_040093 p.Arg1350His US rs539470256 A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040094 p.Val1353Leu LB/B rs36062108 - TTN Q8WZ42 VAR_040095 p.Ile1393Val LB/B rs16866531 - TTN Q8WZ42 VAR_040096 p.Arg1416Cys LB/B rs72647875 - TTN Q8WZ42 VAR_040097 p.Arg1441Pro LB/B rs72647876 - TTN Q8WZ42 VAR_040098 p.Ile1544Val LB/B rs72647877 - TTN Q8WZ42 VAR_040099 p.Arg1572Gln LB/B rs12476289 - TTN Q8WZ42 VAR_040100 p.Arg1658Gly LB/B rs56270960 - TTN Q8WZ42 VAR_040101 p.Arg1664Gln US rs375029799 An ovarian mucinous carcinoma sample TTN Q8WZ42 VAR_040102 p.Gly1692Asp US rs370004591 A lung squamous cell carcinoma sample TTN Q8WZ42 VAR_040103 p.Pro1744Leu LB/B rs75686037 - TTN Q8WZ42 VAR_040104 p.Ser1772Gly LB/B rs150725992 - TTN Q8WZ42 VAR_040105 p.Thr1907Ile US - A colorectal adenocarcinoma sample TTN Q8WZ42 VAR_040106 p.Arg1998His LB/B rs144135510 - TTN Q8WZ42 VAR_040107 p.Pro2107Leu US - A colorectal adenocarcinoma sample TTN Q8WZ42 VAR_040108 p.Ile2118Thr LB/B rs56404770 - TTN Q8WZ42 VAR_040109 p.Ala2164Thr LB/B rs56285559 - TTN Q8WZ42 VAR_040110 p.Asp2240Tyr LB/B - - TTN Q8WZ42 VAR_040111 p.Gly2392Ser LB/B rs4894048 - TTN Q8WZ42 VAR_040112 p.Leu2432Phe US rs571572592 A lung neuroendocrine carcinoma sample TTN Q8WZ42 VAR_040113 p.Met2610Ile LB/B rs56142888 - TTN Q8WZ42 VAR_040114 p.Ile2771Met US rs576644663 A breast infiltrating ductal carcinoma sample TTN Q8WZ42 VAR_040115 p.Val2823Phe LB/B rs33917087 - TTN Q8WZ42 VAR_040116 p.Ser2831Asn LB/B rs2306636 - TTN Q8WZ42 VAR_040117 p.Val2930Ile LB/B rs56373393 - TTN Q8WZ42 VAR_040118 p.Lys3154Arg LB/B rs4893853 - TTN Q8WZ42 VAR_040119 p.Gln3191Glu LB/B rs33997263 - TTN Q8WZ42 VAR_040120 p.Pro3238Leu US rs397517792 A bladder carcinoma sample TTN Q8WZ42 VAR_040121 p.Val3250Gly LB/B rs55634230 - TTN Q8WZ42 VAR_040122 p.Val3261Met LB/B rs2291311 - TTN Q8WZ42 VAR_040123 p.Arg3367Gln LB/B rs34819099 - TTN Q8WZ42 VAR_040124 p.Glu3482Lys US - A metastatic melanoma sample TTN Q8WZ42 VAR_040125 p.Pro3491Ser LB/B rs2627037 - TTN Q8WZ42 VAR_040126 p.Glu3570Lys US - A breast pleomorphic lobular carcinoma sample TTN Q8WZ42 VAR_040127 p.Leu3590Val LB/B rs55853696 - TTN Q8WZ42 VAR_040128 p.Ile3762Val LB/B rs34070843 - TTN Q8WZ42 VAR_040129 p.Ile3877Phe LB/B rs34618570 - TTN Q8WZ42 VAR_040130 p.Ile3965Leu LB/B rs56244420 - TTN Q8WZ42 VAR_040131 p.Gly4238Trp LB/B rs56030296 - TTN Q8WZ42 VAR_040132 p.Ile4291Thr US - A colorectal adenocarcinoma sample TTN Q8WZ42 VAR_040133 p.Gly4303Asp LB/B rs55857742 - TTN Q8WZ42 VAR_040134 p.Asp4427Glu LB/B rs55906845 - TTN Q8WZ42 VAR_040135 p.Gly12310Glu LB/B rs55723264 - TTN Q8WZ42 VAR_040136 p.His12383Arg LB/B rs2288563 - TTN Q8WZ42 VAR_040137 p.Val12469Ala LB/B rs34706299 - TTN Q8WZ42 VAR_040138 p.Arg12642Cys US rs199684560 A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040139 p.Glu12657Lys US rs778634417 A Wilms tumor TTN Q8WZ42 VAR_040140 p.Lys12679Glu LB/B rs6723526 - TTN Q8WZ42 VAR_040141 p.Ser12720Phe US - A metastatic melanoma sample TTN Q8WZ42 VAR_040142 p.Arg12798Cys LB/B rs200914097 - TTN Q8WZ42 VAR_040143 p.Glu13049Gly LB/B - - TTN Q8WZ42 VAR_040144 p.Glu13083Lys US rs1458591077 A metastatic melanoma sample TTN Q8WZ42 VAR_040145 p.Arg13096Leu LB/B rs373298007 - TTN Q8WZ42 VAR_040146 p.Gln13099Arg US - A lung small cell carcinoma sample TTN Q8WZ42 VAR_040147 p.Val13297Ala LB/B rs571522834 - TTN Q8WZ42 VAR_040148 p.Ile13399Met LB/B rs74580375 - TTN Q8WZ42 VAR_040149 p.Ala13418Thr LB/B rs144668626 - TTN Q8WZ42 VAR_040150 p.Glu13428Val LB/B rs114331773 - TTN Q8WZ42 VAR_040151 p.Ile13430Thr LB/B rs184078045 - TTN Q8WZ42 VAR_040152 p.Arg13434Lys US - A breast pleomorphic lobular carcinoma sample TTN Q8WZ42 VAR_040153 p.Asp13469Asn LB/B rs17354992 - TTN Q8WZ42 VAR_040154 p.Lys13495Asn LB/B rs72677225 - TTN Q8WZ42 VAR_040155 p.Asn13785Ser US - A breast pleomorphic lobular carcinoma sample TTN Q8WZ42 VAR_040156 p.Gln13870His US - A lung small cell carcinoma sample TTN Q8WZ42 VAR_040157 p.Val14109Ile LB/B rs72677232 - TTN Q8WZ42 VAR_040158 p.Arg14131Gln LB/B rs72677233 - TTN Q8WZ42 VAR_040159 p.Pro14208Thr LB/B rs146181477 - TTN Q8WZ42 VAR_040160 p.Leu14728Val US - A lung adenocarcinoma sample TTN Q8WZ42 VAR_040161 p.Ser14999Thr LB/B rs55663050 - TTN Q8WZ42 VAR_040162 p.Asn15021Thr LB/B rs36043230 - TTN Q8WZ42 VAR_040163 p.Ala15520Val LB/B rs16866412 - TTN Q8WZ42 VAR_040164 p.Arg15555Ile US rs751398376 A colorectal adenocarcinoma sample TTN Q8WZ42 VAR_040165 p.Arg15620Gln LB/B rs201825412 - TTN Q8WZ42 VAR_040166 p.Ser15629Ile LB/B rs200650668 - TTN Q8WZ42 VAR_040167 p.Tyr15635Cys US - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040168 p.Arg15700Gln LB/B rs370390570 - TTN Q8WZ42 VAR_040169 p.Leu15705Pro LB/B rs755155531 - TTN Q8WZ42 VAR_040170 p.Ile15837Met LB/B rs554368924 - TTN Q8WZ42 VAR_040171 p.Arg16058His LB/B rs72646808 - TTN Q8WZ42 VAR_040172 p.Lys16067Ile LB/B rs2303832 - TTN Q8WZ42 VAR_040173 p.Ile16090Thr LB/B rs72646809 - TTN Q8WZ42 VAR_040174 p.Arg16195His US rs373526624 A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040175 p.Arg16409Cys LB/B rs55734111 - TTN Q8WZ42 VAR_040176 p.Arg16424Pro LB/B - - TTN Q8WZ42 VAR_040177 p.Ile16629Met LB/B rs55809450 - TTN Q8WZ42 VAR_040178 p.Lys16877Arg LB/B rs72646823 - TTN Q8WZ42 VAR_040179 p.Asn17060Asp LB/B rs1001238 - TTN Q8WZ42 VAR_040180 p.Ile17637Val LB/B rs56025724 - TTN Q8WZ42 VAR_040181 p.Arg17838His LB/B rs2288569 - TTN Q8WZ42 VAR_040182 p.Asp17866Asn LB/B - - TTN Q8WZ42 VAR_040183 p.Gly17906Glu US rs374713701 A metastatic melanoma sample TTN Q8WZ42 VAR_040184 p.Glu18094Ala LB/B rs769852851 - TTN Q8WZ42 VAR_040185 p.Gly18109Ser LB/B rs200732032 - TTN Q8WZ42 VAR_040186 p.Arg18164Thr US - An ovarian serous carcinoma sample TTN Q8WZ42 VAR_040187 p.Pro18221Leu LB/B rs16866406 - TTN Q8WZ42 VAR_040188 p.Ala18222Thr LB/B - - TTN Q8WZ42 VAR_040189 p.Arg18726Gln LB/B rs141973925 - TTN Q8WZ42 VAR_040190 p.Val18835Ala US rs1336054298 A breast infiltrating ductal carcinoma sample TTN Q8WZ42 VAR_040191 p.Arg18881Lys US rs1204056923 A metastatic melanoma sample TTN Q8WZ42 VAR_040192 p.Asn18939Ser LB/B rs1470758075 - TTN Q8WZ42 VAR_040193 p.Arg19000Gln LB/B rs199895260 - TTN Q8WZ42 VAR_040194 p.Leu19060Gln US rs1383995916 A lung large cell carcinoma sample TTN Q8WZ42 VAR_040195 p.Arg19091Lys US - A lung large cell carcinoma sample TTN Q8WZ42 VAR_040196 p.Pro19224Ser US - A colorectal adenocarcinoma sample TTN Q8WZ42 VAR_040197 p.Thr19367Ile LB/B rs72646850 - TTN Q8WZ42 VAR_040198 p.Glu19392Lys US - A lung neuroendocrine carcinoma sample TTN Q8WZ42 VAR_040199 p.Ala19480Ser US - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040200 p.Asp19495Gly LB/B rs773075736 - TTN Q8WZ42 VAR_040201 p.Arg19665His LB/B rs202240487 - TTN Q8WZ42 VAR_040202 p.Thr19762Ile LB/B rs2042996 - TTN Q8WZ42 VAR_040203 p.Gly19947Arg LB/B rs181717727 - TTN Q8WZ42 VAR_040204 p.Val19956Met LB/B rs150661999 - TTN Q8WZ42 VAR_040205 p.Arg19992Gln LB/B rs141965360 - TTN Q8WZ42 VAR_040206 p.Arg20057Cys LB/B rs72646861 - TTN Q8WZ42 VAR_040207 p.Ser20075Leu LB/B rs13021201 - TTN Q8WZ42 VAR_040208 p.Thr20179Lys LB/B - - TTN Q8WZ42 VAR_040209 p.Ala20198Thr LB/B rs56378177 - TTN Q8WZ42 VAR_040210 p.Ala20198Val LB/B rs55948748 - TTN Q8WZ42 VAR_040211 p.Arg20331His LB/B rs200217934 - TTN Q8WZ42 VAR_040212 p.Ala20408Thr US - A metastatic melanoma sample TTN Q8WZ42 VAR_040213 p.Arg20564Lys LB/B rs72646869 - TTN Q8WZ42 VAR_040214 p.Val20718Ile LB/B rs2303838 - TTN Q8WZ42 VAR_040215 p.Ser20726Pro LB/B rs72646873 - TTN Q8WZ42 VAR_040216 p.Thr20892Asn LB/B - - TTN Q8WZ42 VAR_040217 p.Ser20894Arg LB/B rs750847940 - TTN Q8WZ42 VAR_040218 p.Asp21125Glu LB/B rs534340303 - TTN Q8WZ42 VAR_040219 p.Pro21403Ser LB/B rs55980498 - TTN Q8WZ42 VAR_040220 p.Arg21730Cys LB/B rs56141309 - TTN Q8WZ42 VAR_040221 p.Arg21747Gln LB/B rs55853138 - TTN Q8WZ42 VAR_040222 p.Cys21851Arg US rs55713867 A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040223 p.Gly21925Arg LB/B rs55801134 - TTN Q8WZ42 VAR_040224 p.Arg21995His LB/B rs56071233 - TTN Q8WZ42 VAR_040225 p.Ala22045Val LB/B rs55903402 - TTN Q8WZ42 VAR_040226 p.Arg22149His LB/B rs55677134 - TTN Q8WZ42 VAR_040227 p.Val22160Ile LB/B rs55885640 - TTN Q8WZ42 VAR_040228 p.Ile22261Thr LB/B rs55837610 - TTN Q8WZ42 VAR_040229 p.Lys22306Asn LB/B rs56019808 - TTN Q8WZ42 VAR_040230 p.Arg22357His LB/B rs10164753 - TTN Q8WZ42 VAR_040231 p.Leu22408Pro LB/B rs56399205 - TTN Q8WZ42 VAR_040232 p.Gln22537His US - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040233 p.Pro22584Leu LB/B rs55992239 - TTN Q8WZ42 VAR_040234 p.Leu22646Pro US - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040235 p.Thr22670Ala LB/B rs56201325 - TTN Q8WZ42 VAR_040236 p.Ala22770Asp LB/B rs55991022 - TTN Q8WZ42 VAR_040237 p.Ala22801Thr US rs764005465 A metastatic melanoma sample TTN Q8WZ42 VAR_040238 p.Arg22823Trp US rs369098292 A metastatic melanoma sample TTN Q8WZ42 VAR_040239 p.Glu22968Gln LB/B rs55762754 - TTN Q8WZ42 VAR_040240 p.Pro23074Leu LB/B rs55713856 - TTN Q8WZ42 VAR_040241 p.Leu23079Phe US - A metastatic melanoma sample TTN Q8WZ42 VAR_040242 p.Asp23282Asn US - A breast infiltrating ductal carcinoma sample TTN Q8WZ42 VAR_040243 p.His23303Tyr US - A metastatic melanoma sample TTN Q8WZ42 VAR_040244 p.Arg23306Cys LB/B rs744426 - TTN Q8WZ42 VAR_040245 p.Ala23515Ser US - A lung squamous cell carcinoma sample TTN Q8WZ42 VAR_040246 p.Glu23551Gln US - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040247 p.Ser23807Asn LB/B rs3813243 - TTN Q8WZ42 VAR_040248 p.Asp23872Asn US - An ovarian serous carcinoma sample TTN Q8WZ42 VAR_040249 p.Val23891Ala LB/B rs55984930 - TTN Q8WZ42 VAR_040250 p.Tyr23933His LB/B rs3813245 - TTN Q8WZ42 VAR_040251 p.Thr23939Met LB/B rs56372592 - TTN Q8WZ42 VAR_040252 p.Phe23952Leu US - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040253 p.Ala24098Gly LB/B rs56391938 - TTN Q8WZ42 VAR_040254 p.Asn24119Ser LB/B rs3813246 - TTN Q8WZ42 VAR_040255 p.Val24133Ile LB/B rs56340968 - TTN Q8WZ42 VAR_040256 p.Val24159Ala US - Neck squamous cell carcinoma sample TTN Q8WZ42 VAR_040257 p.Thr24239Ala LB/B rs56018860 - TTN Q8WZ42 VAR_040258 p.Glu24265Lys LB/B rs56341835 - TTN Q8WZ42 VAR_040259 p.Ile24584Thr LB/B rs12463674 - TTN Q8WZ42 VAR_040260 p.Ile24781Thr LB/B rs3731745 - TTN Q8WZ42 VAR_040261 p.Arg24799His LB/B rs56044609 - TTN Q8WZ42 VAR_040262 p.Asp24954His LB/B rs56307213 - TTN Q8WZ42 VAR_040263 p.Thr24980Met LB/B rs3731746 - TTN Q8WZ42 VAR_040264 p.Arg25659His LB/B rs55850344 - TTN Q8WZ42 VAR_040265 p.Ala25679Thr LB/B rs56365600 - TTN Q8WZ42 VAR_040266 p.Pro25720Ala LB/B rs56137800 - TTN Q8WZ42 VAR_040267 p.Thr25821Lys LB/B rs55933739 - TTN Q8WZ42 VAR_040268 p.Glu25859Lys US rs375422359 A metastatic melanoma sample TTN Q8WZ42 VAR_040269 p.Asn25879Lys LB/B rs56264840 - TTN Q8WZ42 VAR_040270 p.Ala25923Val LB/B rs55634791 - TTN Q8WZ42 VAR_040271 p.Val26045Ile LB/B rs56309296 - TTN Q8WZ42 VAR_040272 p.Lys26059Glu US - A lung small cell carcinoma sample TTN Q8WZ42 VAR_040273 p.Ile26134Val LB/B rs3829746 - TTN Q8WZ42 VAR_040274 p.Arg26477Cys LB/B rs56057221 - TTN Q8WZ42 VAR_040275 p.Asp26843Tyr LB/B rs56330345 - TTN Q8WZ42 VAR_040276 p.Lys27346Arg LB/B rs1186947794 - TTN Q8WZ42 VAR_040277 p.Arg27652Cys LB/B rs191482653 - TTN Q8WZ42 VAR_040278 p.Gly27728Val LB/B rs55898359 - TTN Q8WZ42 VAR_040279 p.Phe27754Leu LB/B rs55940667 - TTN Q8WZ42 VAR_040280 p.Ile27755Thr LB/B rs9808377 - TTN Q8WZ42 VAR_040281 p.Ile27929Val LB/B rs139506970 - TTN Q8WZ42 VAR_040282 p.Ile28132Leu LB/B rs77853750 - TTN Q8WZ42 VAR_040283 p.Arg28168Gln LB/B rs72648238 - TTN Q8WZ42 VAR_040284 p.Arg28538His LB/B rs149567378 - TTN Q8WZ42 VAR_040285 p.Ile28572Thr LB/B rs114026724 - TTN Q8WZ42 VAR_040286 p.Ala28948Thr LB/B rs148617456 - TTN Q8WZ42 VAR_040287 p.Ile28986Val LB/B rs535151633 - TTN Q8WZ42 VAR_040288 p.Gly28993Glu LB/B rs376628842 - TTN Q8WZ42 VAR_040289 p.Leu28998Val LB/B rs373049260 - TTN Q8WZ42 VAR_040290 p.Val29070Met LB/B rs747122 - TTN Q8WZ42 VAR_040291 p.Ile29090Val LB/B rs16866391 - TTN Q8WZ42 VAR_040292 p.Arg29419Cys LB/B rs750303653 - TTN Q8WZ42 VAR_040293 p.Leu29479Pro LB/B rs1310673663 - TTN Q8WZ42 VAR_040294 p.Ser29880Leu US - A colorectal adenocarcinoma sample TTN Q8WZ42 VAR_040295 p.Asp29976Glu LB/B rs72648256 - TTN Q8WZ42 VAR_040296 p.Ser30042Gly LB/B rs72648257 - TTN Q8WZ42 VAR_040297 p.Arg30107Cys LB/B rs142525903 - TTN Q8WZ42 VAR_040298 p.Ser30125Phe LB/B rs191484894 - TTN Q8WZ42 VAR_040299 p.Leu30211Pro LB/B rs62621206 - TTN Q8WZ42 VAR_040300 p.Ile30412Thr LB/B rs62621236 - TTN Q8WZ42 VAR_040301 p.Thr30617Ser US - A renal chromophobe cancer sample TTN Q8WZ42 VAR_040302 p.Thr30674Ile LB/B rs56027402 - TTN Q8WZ42 VAR_040303 p.Val30809Ile US rs397517769 A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040304 p.Phe30818Ile LB/B rs56009327 - TTN Q8WZ42 VAR_040305 p.Glu30825Lys LB/B rs55915651 - TTN Q8WZ42 VAR_040306 p.Ile30856Thr LB/B rs55660660 - TTN Q8WZ42 VAR_040307 p.Gly30887Asp LB/B rs56066673 - TTN Q8WZ42 VAR_040308 p.Gly30887Ser LB/B rs56233675 - TTN Q8WZ42 VAR_040309 p.Arg30897His LB/B rs3731749 - TTN Q8WZ42 VAR_040310 p.Arg30907His LB/B rs55676195 - TTN Q8WZ42 VAR_040311 p.Arg30946His LB/B rs55704830 - TTN Q8WZ42 VAR_040312 p.Ile31081Phe LB/B rs72648270 - TTN Q8WZ42 VAR_040313 p.Arg31107Cys LB/B rs72648272 - TTN Q8WZ42 VAR_040314 p.Ala31124Gly LB/B rs72648273 - TTN Q8WZ42 VAR_040315 p.Asn31156Ser LB/B rs149001703 - TTN Q8WZ42 VAR_040316 p.Pro31246Thr LB/B rs55653324 - TTN Q8WZ42 VAR_040317 p.Arg31330His LB/B rs4894028 - TTN Q8WZ42 VAR_040318 p.Cys31690Arg LB/B rs56061641 - TTN Q8WZ42 VAR_040319 p.Arg31724Gln LB/B rs55742743 - TTN Q8WZ42 VAR_040320 p.Val31725Ile LB/B rs55675869 - TTN Q8WZ42 VAR_040321 p.Gly31732Ser LB/B rs55880786 - TTN Q8WZ42 VAR_040322 p.Val31886Ile LB/B rs2278196 - TTN Q8WZ42 VAR_040323 p.Arg32097Cys LB/B rs56273463 - TTN Q8WZ42 VAR_040324 p.Thr32171Asn US - A lung large cell carcinoma sample TTN Q8WZ42 VAR_040325 p.Val32248Ile LB/B rs34924609 - TTN Q8WZ42 VAR_040326 p.Gln32281His LB/B rs55886356 - TTN Q8WZ42 VAR_040327 p.Arg32323His LB/B rs55669553 - TTN Q8WZ42 VAR_040328 p.Arg32411Trp US rs756924372 A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040329 p.Ile32558Val LB/B rs56347248 - TTN Q8WZ42 VAR_040330 p.Met32610Val LB/B rs56173891 - TTN Q8WZ42 VAR_040331 p.Gly32637Val LB/B rs3731752 - TTN Q8WZ42 VAR_040332 p.Val32922Ala LB/B rs55945684 - TTN Q8WZ42 VAR_040333 p.Leu32943Arg US - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040334 p.Arg32953His LB/B rs3829747 - TTN Q8WZ42 VAR_040335 p.Val33213Leu LB/B rs55866005 - TTN Q8WZ42 VAR_040336 p.Arg33242Cys US rs1003158162 A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040337 p.Thr33387Met LB/B rs56001826 - TTN Q8WZ42 VAR_040338 p.Glu33419Asp LB/B rs56308529 - TTN Q8WZ42 VAR_040339 p.Val33536Met LB/B rs55865284 - TTN Q8WZ42 VAR_040340 p.Lys33568Gln LB/B rs56365812 - TTN Q8WZ42 VAR_040341 p.Glu33616Lys LB/B rs56324595 - TTN Q8WZ42 VAR_040342 p.Pro33620Leu LB/B rs16866380 - TTN Q8WZ42 VAR_040343 p.Glu33886Val LB/B rs55725279 - TTN Q8WZ42 VAR_040344 p.Ile33899Thr LB/B rs55880440 - TTN Q8WZ42 VAR_040345 p.Leu33904Pro US - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040346 p.Thr33955Ile LB/B rs55842557 - TTN Q8WZ42 VAR_040347 p.Val34115Ala LB/B rs16866378 - TTN Q8WZ42 VAR_056081 p.Ser1249Leu LB/B rs1552280 - TTN Q8WZ42 VAR_056082 p.Asn3026Ile LB/B rs11900987 - TTN Q8WZ42 VAR_056083 p.Ser3419Asn LB/B rs2291310 - TTN Q8WZ42 VAR_056084 p.Pro3637Ser LB/B rs757223770 - TTN Q8WZ42 VAR_056085 p.Ala8288Val LB/B rs16866412 - TTN Q8WZ42 VAR_056086 p.Ile8474Thr LB/B rs4893852 - TTN Q8WZ42 VAR_056087 p.Val16575Met LB/B rs3813243 - TTN Q8WZ42 VAR_056088 p.Arg20359Lys LB/B rs9808036 - TTN Q8WZ42 VAR_056089 p.Ala24098Thr LB/B rs4894028 - TTN Q8WZ42 VAR_069432 p.Gly16046Val LB/B rs780672348 - TTN Q8WZ42 VAR_069433 p.Glu32742Gln LB/B rs148525155 - TTN Q8WZ42 VAR_074293 p.Thr2963Pro LB/B rs200875815 - TTN Q8WZ42 VAR_074294 p.Arg14750Gln LB/B rs200944827 - TTPA P49638 VAR_005668 p.His101Gln LP/P rs121917849 Ataxia with vitamin E deficiency (AVED) [MIM:277460] TTPA P49638 VAR_007858 p.Arg192His LP/P rs121917850 Ataxia with vitamin E deficiency (AVED) [MIM:277460] TTPA P49638 VAR_022388 p.Arg59Trp LP/P rs397515522 Ataxia with vitamin E deficiency (AVED) [MIM:277460] TTPA P49638 VAR_022389 p.Ala120Thr LP/P rs143010236 Ataxia with vitamin E deficiency (AVED) [MIM:277460] TTPA P49638 VAR_022390 p.Glu141Lys LP/P rs397515524 Ataxia with vitamin E deficiency (AVED) [MIM:277460] TTPA P49638 VAR_022391 p.Arg221Trp LP/P rs35916840 Ataxia with vitamin E deficiency (AVED) [MIM:277460] TTPA P49638 VAR_022392 p.Gly246Arg LP/P rs397515526 Ataxia with vitamin E deficiency (AVED) [MIM:277460] TTPA P49638 VAR_037973 p.Thr172Ser LB/B rs34647756 - TTPAL Q9BTX7 VAR_061788 p.Ala278Gly LB/B rs59069332 - TTR P02766 VAR_007546 p.Gly26Ser LB/B rs1800458 - TTR P02766 VAR_007547 p.Cys30Arg LP/P rs121918083 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007548 p.Asp38Glu LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007549 p.Asp38Gly LP/P rs121918098 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007550 p.Val40Ile LP/P rs121918093 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007551 p.Pro44Ser LP/P rs11541790 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007552 p.Val50Ala LP/P rs79977247 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007553 p.Val50Leu LP/P rs28933979 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007554 p.Val50Met LP/P rs28933979 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007555 p.Phe53Ile LP/P rs121918068 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007556 p.Phe53Leu LP/P rs121918068 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007557 p.Ala56Pro LP/P rs121918077 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007558 p.Glu62Gly LP/P rs11541796 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007559 p.Ala65Asp LP/P rs730881169 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007560 p.Ala65Thr LP/P rs121918078 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007561 p.Gly67Ala LP/P rs121918090 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007562 p.Gly67Arg LP/P rs387906523 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007563 p.Gly67Val LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007564 p.Thr69Ala LP/P rs121918081 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007565 p.Ser70Ile LP/P rs121918080 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007566 p.Ser70Arg LP/P rs386134269 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007567 p.Ser72Pro LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007568 p.Glu74Gly LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007569 p.Leu75Pro LP/P rs121918079 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007570 p.Leu78His LP/P rs121918069 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007571 p.Leu78Arg LP/P rs121918069 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007572 p.Thr79Lys LP/P rs730881163 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007573 p.Thr80Ala LP/P rs121918070 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007574 p.Glu81Lys LP/P rs121918086 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007575 p.Phe84Leu LP/P rs121918091 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007576 p.Ile88Leu LP/P rs121918085 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007577 p.Tyr89His LP/P rs121918100 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007578 p.Lys90Asn LP/P rs267607160 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007579 p.Val91Ala LP/P rs121918084 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007580 p.Ile93Val LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007581 p.Asp94His LB/B rs730881164 - TTR P02766 VAR_007582 p.Ser97Tyr LP/P rs121918071 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007583 p.Ile104Asn LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007584 p.Ile104Ser LP/P rs121918072 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007585 p.Glu109Gln LP/P rs121918082 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007586 p.His110Asn LB/B rs121918074 - TTR P02766 VAR_007587 p.Ala111Ser LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007588 p.Ala117Gly LP/P rs121918087 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007589 p.Gly121Ser LB/B rs755337715 - TTR P02766 VAR_007590 p.Pro122Arg LB/B - - TTR P02766 VAR_007591 p.Arg124Cys LB/B rs745834030 - TTR P02766 VAR_007592 p.Ile127Val LP/P rs121918089 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007593 p.Ala129Thr LP/P rs267607159 Hyperthyroxinemia, dystransthyretinemic (DTTRH) [MIM:145680] TTR P02766 VAR_007594 p.Leu131Met LP/P rs121918073 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007595 p.Tyr134Cys LP/P rs121918075 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007596 p.Tyr136Ser LP/P rs730881167 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007597 p.Tyr136Val US - - TTR P02766 VAR_007598 p.Tyr134His LP/P rs121918088 Carpal tunnel syndrome 1 (CTS1) [MIM:115430] TTR P02766 VAR_007599 p.Thr139Met LB/B rs28933981 - TTR P02766 VAR_007600 p.Val142Ile LP/P rs76992529 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_010658 p.Val48Met LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_010659 p.Glu109Lys LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038959 p.Leu32Pro LP/P rs121918094 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038960 p.Met33Ile LB/B - - TTR P02766 VAR_038961 p.Ser43Asn LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038962 p.Val50Gly LP/P rs79977247 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038963 p.Phe53Cys US - - TTR P02766 VAR_038964 p.Phe53Val LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038965 p.Arg54Thr LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038966 p.Lys55Asn LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038967 p.Asp58Ala LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038968 p.Asp58Val LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038969 p.Trp61Leu LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038970 p.Glu62Asp LP/P rs11541796 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038971 p.Phe64Ser LP/P rs104894665 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038972 p.Ala65Ser LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038973 p.Gly67Glu LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038974 p.Thr69Ile LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038975 p.Gly73Glu LP/P rs121918097 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038976 p.Glu74Lys LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038977 p.Leu75Gln LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038978 p.Glu81Gly LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038979 p.Tyr98Phe LP/P rs958191819 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038980 p.Ile104Thr LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038981 p.Val114Ala US - - TTR P02766 VAR_038982 p.Ala117Ser LP/P rs267607161 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038983 p.Arg124His LB/B rs121918095 - TTR P02766 VAR_038984 p.Thr126Asn LP/P rs1456101911 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038985 p.Ile127Met LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038986 p.Ala140Ser LP/P rs876658108 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038987 p.Val142Ala LP/P - Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038988 p.Asn144Ser LP/P rs144965179 Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210] TTYH2 Q9BSA4 VAR_037460 p.Pro11His LB/B rs11538875 - TTYH2 Q9BSA4 VAR_037461 p.His85Asp LB/B rs11538876 - TTYH2 Q9BSA4 VAR_037462 p.Ala262Thr LB/B rs35682745 - TTYH2 Q9BSA4 VAR_037463 p.Ser265Ala LB/B rs35999669 - TTYH2 Q9BSA4 VAR_037464 p.Thr419Ile LB/B rs12600564 - TTYH2 Q9BSA4 VAR_037465 p.Asp423Glu LB/B rs9899862 - TTYH2 Q9BSA4 VAR_057791 p.Ala409Glu LB/B rs9892705 - TUBA1A Q71U36 VAR_034540 p.Glu447Lys LB/B rs1065730 - TUBA1A Q71U36 VAR_039332 p.Ile188Leu LP/P rs137853045 Lissencephaly 3 (LIS3) [MIM:611603] TUBA1A Q71U36 VAR_039333 p.Pro263Thr LP/P rs137853046 Lissencephaly 3 (LIS3) [MIM:611603] TUBA1A Q71U36 VAR_039334 p.Arg264Cys LP/P rs137853043 Lissencephaly 3 (LIS3) [MIM:611603] TUBA1A Q71U36 VAR_039335 p.Leu286Phe LP/P - Lissencephaly 3 (LIS3) [MIM:611603] TUBA1A Q71U36 VAR_039336 p.Arg402Cys LP/P rs587784483 Lissencephaly 3 (LIS3) [MIM:611603] TUBA1A Q71U36 VAR_039337 p.Arg402His LP/P rs137853044 Lissencephaly 3 (LIS3) [MIM:611603] TUBA1A Q71U36 VAR_039338 p.Ser419Leu LP/P rs137853047 Lissencephaly 3 (LIS3) [MIM:611603] TUBA1A Q71U36 VAR_078711 p.Arg402Leu LP/P rs137853044 Lissencephaly 3 (LIS3) [MIM:611603] TUBA3C P0DPH7 VAR_022068 p.Val440Met LB/B rs1803092 - TUBA3C P0DPH7 VAR_034541 p.Val75Leu LB/B rs36215077 - TUBA3C P0DPH7 VAR_052666 p.Asp392Val LB/B rs17076703 - TUBA3E Q6PEY2 VAR_052667 p.Ser101Asn LB/B rs3863907 - TUBA3E Q6PEY2 VAR_052668 p.Ala126Val LB/B rs13000721 - TUBA3E Q6PEY2 VAR_052669 p.Trp402Arg LB/B rs1052422 - TUBA3E Q6PEY2 VAR_054640 p.Ser162Gly LB/B rs2261398 - TUBA3E Q6PEY2 VAR_054641 p.Ala449Glu LB/B rs10208844 - TUBA4A P68366 VAR_072714 p.Thr145Pro LP/P rs730880029 Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208] TUBA4A P68366 VAR_072715 p.Arg215Cys LP/P rs730880028 Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208] TUBA4A P68366 VAR_072716 p.Arg320Cys LP/P rs730880025 Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208] TUBA4A P68366 VAR_072717 p.Arg320His LP/P rs730880026 Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208] TUBA4A P68366 VAR_072718 p.Ala383Thr LP/P rs368743618 Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208] TUBA8 Q9NY65 VAR_024680 p.Gln301Arg LB/B rs2234333 - TUBA8 Q9NY65 VAR_052670 p.Ala128Val LB/B rs2234331 - TUBA8 Q9NY65 VAR_087194 p.Cys20Tyr US - Macrothrombocytopenia, isolated, 2, autosomal dominant (MACTHC2) [MIM:619840] TUBA8 Q9NY65 VAR_087195 p.Ile68Leu US rs776983625 Macrothrombocytopenia, isolated, 2, autosomal dominant (MACTHC2) [MIM:619840] TUBA8 Q9NY65 VAR_087196 p.Arg214Cys US rs567801441 Macrothrombocytopenia, isolated, 2, autosomal dominant (MACTHC2) [MIM:619840] TUBA8 Q9NY65 VAR_087197 p.Arg243Cys US rs762265885 Macrothrombocytopenia, isolated, 2, autosomal dominant (MACTHC2) [MIM:619840] TUBA8 Q9NY65 VAR_087198 p.Glu290Lys US rs754515296 Macrothrombocytopenia, isolated, 2, autosomal dominant (MACTHC2) [MIM:619840] TUBA8 Q9NY65 VAR_087199 p.Arg320Trp US rs140202346 Macrothrombocytopenia, isolated, 2, autosomal dominant (MACTHC2) [MIM:619840] TUBAL3 A6NHL2 VAR_037706 p.Gln135His LB/B rs11818372 - TUBAL3 A6NHL2 VAR_037707 p.Arg250Trp LB/B rs34080891 - TUBB P07437 VAR_071763 p.Met299Val LP/P rs587777355 Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) [MIM:615771] TUBB P07437 VAR_071764 p.Val353Ile LP/P rs587777356 Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) [MIM:615771] TUBB P07437 VAR_071765 p.Glu401Lys LP/P rs587777357 Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) [MIM:615771] TUBB P07437 VAR_076543 p.Gln15Lys LP/P rs864321676 Skin creases, congenital symmetric circumferential, 1 (CSCSC1) [MIM:156610] TUBB P07437 VAR_076544 p.Tyr222Phe LP/P rs864321677 Skin creases, congenital symmetric circumferential, 1 (CSCSC1) [MIM:156610] TUBB1 Q9H4B7 VAR_034542 p.Gln43His LB/B rs415064 - TUBB1 Q9H4B7 VAR_034543 p.Gln43Pro LB/B rs463312 - TUBB1 Q9H4B7 VAR_052671 p.Thr274Met LB/B rs35565630 - TUBB1 Q9H4B7 VAR_052672 p.Arg307His LB/B rs6070697 - TUBB1 Q9H4B7 VAR_063411 p.Arg318Trp LP/P rs121918555 Macrothrombocytopenia, isolated, 1, autosomal dominant (MACTHC1) [MIM:613112] TUBB2A Q13885 VAR_036197 p.Arg62Trp US rs774124807 A colorectal cancer sample TUBB2A Q13885 VAR_071168 p.Asn247Lys LP/P rs886037663 Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) [MIM:615763] TUBB2A Q13885 VAR_071169 p.Ala248Val LP/P rs2808001 Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) [MIM:615763] TUBB2B Q9BVA1 VAR_063389 p.Ser172Pro LP/P rs137853194 Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031] TUBB2B Q9BVA1 VAR_063390 p.Cys201Ser LB/B rs201922441 - TUBB2B Q9BVA1 VAR_063391 p.Ile210Thr LP/P - Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031] TUBB2B Q9BVA1 VAR_063392 p.Leu228Pro LP/P rs137853195 Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031] TUBB2B Q9BVA1 VAR_063393 p.Phe265Leu LP/P rs137853196 Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031] TUBB2B Q9BVA1 VAR_063394 p.Thr312Met LP/P - Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031] TUBB2B Q9BVA1 VAR_078186 p.Leu117Pro LP/P rs397514569 Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031] TUBB2B Q9BVA1 VAR_078187 p.Cys239Phe LP/P rs878853284 Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031] TUBB2B Q9BVA1 VAR_078188 p.Asn256Ser LP/P rs397514568 Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031] TUBB2B Q9BVA1 VAR_078189 p.Arg390Gln US - - TUBB2B Q9BVA1 VAR_078190 p.Asp417Asn LP/P rs397514567 Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031] TUBB2B Q9BVA1 VAR_078191 p.Glu421Lys LP/P rs398122369 Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031] TUBB3 Q13509 VAR_062758 p.Arg62Gln LP/P rs864321714 Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638] TUBB3 Q13509 VAR_062759 p.Arg262Cys LP/P rs267607162 Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638] TUBB3 Q13509 VAR_062760 p.Arg262His LP/P rs864321716 Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638] TUBB3 Q13509 VAR_062761 p.Ala302Thr LP/P rs267607163 Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638] TUBB3 Q13509 VAR_062762 p.Arg380Cys LP/P rs864321717 Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638] TUBB3 Q13509 VAR_062763 p.Glu410Lys LP/P rs267607165 Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638] TUBB3 Q13509 VAR_062764 p.Asp417His LP/P rs267607164 Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638] TUBB3 Q13509 VAR_062765 p.Asp417Asn LP/P rs267607164 Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638] TUBB3 Q13509 VAR_066206 p.Thr178Met LP/P rs747480526 Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039] TUBB3 Q13509 VAR_066207 p.Glu205Lys LP/P rs878853257 Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039] TUBB3 Q13509 VAR_066208 p.Ala302Val LP/P rs878853258 Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039] TUBB3 Q13509 VAR_066209 p.Met323Val LP/P rs878853256 Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039] TUBB4A P04350 VAR_026044 p.Ala365Val LB/B rs1053267 - TUBB4A P04350 VAR_052673 p.Ile155Met LB/B rs1053262 - TUBB4A P04350 VAR_069798 p.Arg2Gly LP/P rs587776983 Dystonia 4, torsion, autosomal dominant (DYT4) [MIM:128101] TUBB4A P04350 VAR_069799 p.Asp249Asn LP/P rs483352809 Leukodystrophy, hypomyelinating, 6 (HLD6) [MIM:612438] TUBB4B P68371 VAR_080782 p.Arg391Cys LP/P rs1554786802 Leber congenital amaurosis with early-onset deafness (LCAEOD) [MIM:617879] TUBB4B P68371 VAR_080783 p.Arg391His LP/P rs1554786803 Leber congenital amaurosis with early-onset deafness (LCAEOD) [MIM:617879] TUBB6 Q9BUF5 VAR_080406 p.Phe394Ser LP/P rs1555669248 Facial palsy, congenital, with ptosis and velopharyngeal dysfunction (FPVEPD) [MIM:617732] TUBB8 Q3ZCM7 VAR_039240 p.Leu345Phe LB/B rs4880608 - TUBB8 Q3ZCM7 VAR_076898 p.Arg2Lys LP/P rs869025273 Oocyte/zygote/embryo maturation arrest 2 (OZEMA2) [MIM:616780] TUBB8 Q3ZCM7 VAR_076900 p.Ser176Leu LP/P rs869025609 Oocyte/zygote/embryo maturation arrest 2 (OZEMA2) [MIM:616780] TUBB8 Q3ZCM7 VAR_076901 p.Ile210Val LP/P rs781853492 Oocyte/zygote/embryo maturation arrest 2 (OZEMA2) [MIM:616780] TUBB8 Q3ZCM7 VAR_076902 p.Val229Ala LP/P rs869025271 Oocyte/zygote/embryo maturation arrest 2 (OZEMA2) [MIM:616780] TUBB8 Q3ZCM7 VAR_076903 p.Thr238Met LP/P rs1057520306 Oocyte/zygote/embryo maturation arrest 2 (OZEMA2) [MIM:616780] TUBB8 Q3ZCM7 VAR_076904 p.Val255Met LP/P rs782269374 Oocyte/zygote/embryo maturation arrest 2 (OZEMA2) [MIM:616780] TUBB8 Q3ZCM7 VAR_076905 p.Arg262Gln LP/P rs869025610 Oocyte/zygote/embryo maturation arrest 2 (OZEMA2) [MIM:616780] TUBB8 Q3ZCM7 VAR_076906 p.Arg262Trp LP/P rs782486119 Oocyte/zygote/embryo maturation arrest 2 (OZEMA2) [MIM:616780] TUBB8 Q3ZCM7 VAR_076907 p.Thr285Pro LP/P - Oocyte/zygote/embryo maturation arrest 2 (OZEMA2) [MIM:616780] TUBB8 Q3ZCM7 VAR_076908 p.Met300Ile LP/P rs869025612 Oocyte/zygote/embryo maturation arrest 2 (OZEMA2) [MIM:616780] TUBB8 Q3ZCM7 VAR_076909 p.Asn348Ser LP/P rs1270068662 Oocyte/zygote/embryo maturation arrest 2 (OZEMA2) [MIM:616780] TUBB8 Q3ZCM7 VAR_076910 p.Met363Thr LP/P rs869025611 Oocyte/zygote/embryo maturation arrest 2 (OZEMA2) [MIM:616780] TUBB8 Q3ZCM7 VAR_076911 p.Asp417Asn LP/P rs869025272 Oocyte/zygote/embryo maturation arrest 2 (OZEMA2) [MIM:616780] TUBB8 Q3ZCM7 VAR_087566 p.Ala54Val LP/P rs375210323 Oocyte/zygote/embryo maturation arrest 2 (OZEMA2) [MIM:616780] TUBB8 Q3ZCM7 VAR_087567 p.Arg320His LP/P rs1465781298 Oocyte/zygote/embryo maturation arrest 2 (OZEMA2) [MIM:616780] TUBD1 Q9UJT1 VAR_030000 p.Met76Thr LB/B rs1292053 - TUBG1 P23258 VAR_052674 p.Met413Val LB/B rs13663 - TUBG1 P23258 VAR_070577 p.Tyr92Cys LP/P rs398123046 Cortical dysplasia, complex, with other brain malformations 4 (CDCBM4) [MIM:615412] TUBG1 P23258 VAR_070578 p.Thr331Pro LP/P rs398123047 Cortical dysplasia, complex, with other brain malformations 4 (CDCBM4) [MIM:615412] TUBG1 P23258 VAR_070579 p.Leu387Pro LP/P rs398123045 Cortical dysplasia, complex, with other brain malformations 4 (CDCBM4) [MIM:615412] TUBG2 Q9NRH3 VAR_020418 p.Met413Val LB/B rs1046097 - TUBGCP2 Q9BSJ2 VAR_022126 p.Ala111Thr LB/B rs2298121 - TUBGCP2 Q9BSJ2 VAR_049249 p.Ile193Thr LB/B rs11101682 - TUBGCP2 Q9BSJ2 VAR_049250 p.Ala809Thr LB/B rs11101677 - TUBGCP2 Q9BSJ2 VAR_083747 p.Arg297Cys US rs200129338 Cortical dysplasia, complex, with other brain malformations 15 (CDCBM15) [MIM:618737] TUBGCP2 Q9BSJ2 VAR_083748 p.Arg333Cys US rs34832477 Cortical dysplasia, complex, with other brain malformations 15 (CDCBM15) [MIM:618737] TUBGCP2 Q9BSJ2 VAR_083749 p.Ala615Pro US rs1449999247 Cortical dysplasia, complex, with other brain malformations 15 (CDCBM15) [MIM:618737] TUBGCP3 Q96CW5 VAR_049251 p.Thr208Ser LB/B rs1044287 - TUBGCP5 Q96RT8 VAR_049252 p.Glu662Asp LB/B rs35612840 - TUBGCP6 Q96RT7 VAR_031594 p.Leu567Ser LB/B rs4838865 - TUBGCP6 Q96RT7 VAR_055852 p.Leu104Pro LB/B rs8137873 - TUBGCP6 Q96RT7 VAR_055853 p.Ile624Met LB/B rs35573482 - TUBGCP6 Q96RT7 VAR_055854 p.Ala884Val LB/B rs34455105 - TUBGCP6 Q96RT7 VAR_055855 p.Val1232Met LB/B rs17248287 - TUBGCP6 Q96RT7 VAR_055856 p.Ser1364Cys LB/B rs5771107 - TUBGCP6 Q96RT7 VAR_055857 p.Thr1377Ala LB/B rs11703226 - TUBGCP6 Q96RT7 VAR_055858 p.Val1621Leu LB/B rs4838864 - TUFM P49411 VAR_031902 p.Arg339Gln LP/P rs121434452 Combined oxidative phosphorylation deficiency 4 (COXPD4) [MIM:610678] TUFT1 Q9NNX1 VAR_034574 p.Lys296Arg LB/B rs16833395 - TUFT1 Q9NNX1 VAR_052424 p.Gln18Arg LB/B rs3828054 - TULP1 O00294 VAR_007941 p.Arg420Pro LP/P rs121909073 Retinitis pigmentosa 14 (RP14) [MIM:600132] TULP1 O00294 VAR_007942 p.Ile459Lys LP/P rs121909075 Retinitis pigmentosa 14 (RP14) [MIM:600132] TULP1 O00294 VAR_007943 p.Phe491Leu LP/P rs121909074 Retinitis pigmentosa 14 (RP14) [MIM:600132] TULP1 O00294 VAR_008274 p.Thr67Arg LB/B rs7764472 - TULP1 O00294 VAR_008275 p.Ala245Val LP/P rs62636707 Retinitis pigmentosa 14 (RP14) [MIM:600132] TULP1 O00294 VAR_008276 p.Ile259Thr LB/B rs2064317 - TULP1 O00294 VAR_008277 p.Lys261Thr LP/P - Retinitis pigmentosa 14 (RP14) [MIM:600132] TULP1 O00294 VAR_008278 p.Arg378His LP/P rs148749577 Retinitis pigmentosa 14 (RP14) [MIM:600132] TULP1 O00294 VAR_008279 p.Thr454Met LP/P rs138200747 Retinitis pigmentosa 14 (RP14) [MIM:600132] TULP1 O00294 VAR_008280 p.Lys489Arg LP/P rs62636511 Retinitis pigmentosa 14 (RP14) [MIM:600132] TULP1 O00294 VAR_008281 p.Ala496Thr US rs141980901 Retinitis pigmentosa 14 (RP14) [MIM:600132] TULP1 O00294 VAR_034575 p.Lys261Asn LB/B rs2064318 - TULP1 O00294 VAR_037584 p.Phe382Ser LP/P rs121909076 Retinitis pigmentosa 14 (RP14) [MIM:600132] TULP1 O00294 VAR_065500 p.Gly368Trp LP/P rs387906837 Leber congenital amaurosis 15 (LCA15) [MIM:613843] TULP1 O00294 VAR_065501 p.Arg400Trp LP/P rs387906836 Leber congenital amaurosis 15 (LCA15) [MIM:613843] TULP1 O00294 VAR_065502 p.Arg482Trp LP/P rs121909077 Retinitis pigmentosa 14 (RP14) [MIM:600132] TULP2 O00295 VAR_022136 p.Glu245Lys LB/B rs2270945 - TULP2 O00295 VAR_024679 p.Asp251Asn LB/B rs8112811 - TULP2 O00295 VAR_029312 p.Ala18Thr LB/B rs7260579 - TULP2 O00295 VAR_057320 p.Gly122Ser LB/B rs34378208 - TULP2 O00295 VAR_064760 p.Val149Ile US - - TULP3 O75386 VAR_087379 p.Cys204Trp US rs547315819 Hepatorenocardiac degenerative fibrosis (HRCDF) [MIM:619902] TULP3 O75386 VAR_087380 p.Arg408His LP/P rs761172007 Hepatorenocardiac degenerative fibrosis (HRCDF) [MIM:619902] TULP4 Q9NRJ4 VAR_052417 p.Gly214Ser LB/B rs35262826 - TULP4 Q9NRJ4 VAR_052418 p.Ser522Asn LB/B rs12206717 - TULP4 Q9NRJ4 VAR_052419 p.Asp979Asn LB/B rs34622886 - TULP4 Q9NRJ4 VAR_052420 p.Val1084Ile LB/B rs34559793 - TULP4 Q9NRJ4 VAR_052421 p.Pro1281Thr LB/B rs3749852 - TULP4 Q9NRJ4 VAR_059841 p.Arg199Ser LB/B rs705956 - TUSC1 Q2TAM9 VAR_037471 p.Asn120Asp LB/B rs34498078 - TUSC3 Q13454 VAR_045836 p.Ile65Val LB/B rs11545035 - TUSC3 Q13454 VAR_069369 p.Met247Val LB/B - - TUT1 Q9H6E5 VAR_028833 p.Leu442Phe LB/B rs3197865 - TUT4 Q5TAX3 VAR_028402 p.Asp796Tyr LB/B rs12127732 - TUT7 Q5VYS8 VAR_053753 p.Ala40Val LB/B rs2378695 - TVP23B Q9NYZ1 VAR_060476 p.Gly55Glu LB/B rs61075345 - TVP23C Q96ET8 VAR_024929 p.Asp12Ala LB/B rs17850828 - TVP23C Q96ET8 VAR_055797 p.Leu271Gln LB/B rs12150518 - TWF2 Q6IBS0 VAR_042407 p.Arg72Cys LB/B rs35114109 - TWF2 Q6IBS0 VAR_042408 p.Gln76Arg LB/B rs35711542 - TWF2 Q6IBS0 VAR_042409 p.Ala103Thr US rs867679383 A lung neuroendocrine carcinoma sample TWIST1 Q15672 VAR_004495 p.Gln119Pro LP/P rs104894057 Saethre-Chotzen syndrome (SCS) [MIM:101400] TWIST1 Q15672 VAR_004496 p.Leu131Pro LP/P rs121909189 Saethre-Chotzen syndrome (SCS) [MIM:101400] TWIST1 Q15672 VAR_015219 p.Ile156Val LP/P rs104894059 Saethre-Chotzen syndrome (SCS) [MIM:101400] TWIST1 Q15672 VAR_034985 p.Ala186Thr LP/P rs121909190 Craniosynostosis 1 (CRS1) [MIM:123100] TWIST1 Q15672 VAR_034986 p.Ser188Leu LP/P rs121909191 Craniosynostosis 1 (CRS1) [MIM:123100] TWIST1 Q15672 VAR_077470 p.Gly83Ser US rs545987863 - TWIST1 Q15672 VAR_077471 p.Ser95Gly LB/B rs575299986 - TWIST1 Q15672 VAR_080515 p.Glu117Gly LP/P rs1554442016 Sweeney-Cox syndrome (SWCOS) [MIM:617746] TWIST1 Q15672 VAR_080516 p.Glu117Val LP/P rs1554442016 Sweeney-Cox syndrome (SWCOS) [MIM:617746] TWIST2 Q8WVJ9 VAR_072927 p.Leu109Pro LP/P - Focal facial dermal dysplasia 3, Setleis type (FFDD3) [MIM:227260] TWIST2 Q8WVJ9 VAR_074674 p.Glu75Ala LP/P rs796065048 Barber-Say syndrome (BBRSAY) [MIM:209885] TWIST2 Q8WVJ9 VAR_074675 p.Glu75Lys LP/P rs796065049 Ablepharon-macrostomia syndrome (AMS) [MIM:200110] TWIST2 Q8WVJ9 VAR_074676 p.Glu75Gln LP/P rs796065049 Barber-Say syndrome (BBRSAY) [MIM:209885] TWNK Q96RR1 VAR_023647 p.Arg303Trp LP/P rs1159929268 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_023648 p.Trp315Leu LP/P rs111033575 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_023649 p.Lys319Glu LP/P rs80356543 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_023650 p.Lys319Thr LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_023651 p.Arg334Gln LB/B rs28937887 - TWNK Q96RR1 VAR_023652 p.Pro335Leu LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_023653 p.Arg354Pro LP/P rs111033576 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_023654 p.Ala359Thr LP/P rs111033573 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_023655 p.Ile367Thr LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_023656 p.Val368Ile LB/B rs17113613 - TWNK Q96RR1 VAR_023657 p.Ser369Pro LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_023658 p.Ser369Tyr LP/P rs111033579 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_023659 p.Arg374Gln LP/P rs1554887097 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_023660 p.Leu381Pro LP/P rs111033577 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_023661 p.Trp474Cys LP/P rs111033574 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_023662 p.Ala475Pro LP/P rs111033572 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_039045 p.Thr457Ile LP/P rs80356544 Mitochondrial DNA depletion syndrome 7 (MTDPS7) [MIM:271245] TWNK Q96RR1 VAR_043797 p.Tyr508Cys LP/P rs80356540 Mitochondrial DNA depletion syndrome 7 (MTDPS7) [MIM:271245] TWNK Q96RR1 VAR_051267 p.Glu427Gly LB/B rs11542126 - TWNK Q96RR1 VAR_062268 p.Gly348Arg LB/B rs62626271 - TWNK Q96RR1 VAR_062269 p.Asn634Lys LB/B rs62626293 - TWNK Q96RR1 VAR_065102 p.Arg303Gln LP/P rs137852956 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_065103 p.Trp315Ser LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_065104 p.Ala318Thr LP/P rs80356542 Mitochondrial DNA depletion syndrome 7 (MTDPS7) [MIM:271245] TWNK Q96RR1 VAR_065105 p.Arg334Pro LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_065106 p.Arg357Pro LP/P rs758026634 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_065107 p.Leu360Gly LP/P - Mitochondrial DNA depletion syndrome 7 (MTDPS7) [MIM:271245] TWNK Q96RR1 VAR_065108 p.Ala362Pro LP/P rs1554887075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_065109 p.Trp363Leu LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_065110 p.Phe370Cys LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_065111 p.Phe370Leu LP/P rs863223920 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_065112 p.Ser426Asn LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_065113 p.Gln458His LP/P rs1554887213 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_065114 p.Ala460Pro LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_065115 p.Trp474Ser LP/P rs11542127 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_065116 p.Ala475Asp LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_065117 p.Phe478Ile LP/P - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_065118 p.Glu479Lys LP/P rs1085307937 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] TWNK Q96RR1 VAR_067722 p.Leu456Val LP/P rs386834145 Mitochondrial DNA depletion syndrome 7 (MTDPS7) [MIM:271245] TWNK Q96RR1 VAR_072657 p.Arg391His LP/P rs556445621 Perrault syndrome 5 (PRLTS5) [MIM:616138] TWNK Q96RR1 VAR_072658 p.Trp441Gly LP/P rs672601361 Perrault syndrome 5 (PRLTS5) [MIM:616138] TWNK Q96RR1 VAR_072659 p.Val507Ile LP/P rs369588002 Perrault syndrome 5 (PRLTS5) [MIM:616138] TWNK Q96RR1 VAR_072660 p.Asn585Ser LP/P rs672601360 Perrault syndrome 5 (PRLTS5) [MIM:616138] TXK P42681 VAR_028368 p.Arg45His LB/B rs7658300 - TXK P42681 VAR_028369 p.Arg336Gln LB/B rs11724347 - TXK P42681 VAR_041869 p.Arg63Cys LB/B rs41265727 - TXLNB Q8N3L3 VAR_019807 p.Ala11Thr LB/B rs9321712 - TXLNB Q8N3L3 VAR_057729 p.Val348Met LB/B rs17068451 - TXLNB Q8N3L3 VAR_057730 p.Ile527Thr LB/B rs9495392 - TXLNB Q8N3L3 VAR_057731 p.Ala602Pro LB/B rs9495391 - TXLNG Q9NUQ3 VAR_019809 p.Ile246Val LB/B rs5969783 - TXNDC11 Q6PKC3 VAR_022767 p.Val783Leu LB/B rs3190321 - TXNDC15 Q96J42 VAR_036172 p.Ser248Pro US - A breast cancer sample TXNDC15 Q96J42 VAR_082162 p.Leu212Pro US rs760579409 Meckel syndrome 14 (MKS14) [MIM:619879] TXNDC16 Q9P2K2 VAR_028919 p.Glu486Lys LB/B rs7155490 - TXNDC16 Q9P2K2 VAR_061899 p.Ser136Asn LB/B rs28759013 - TXNDC16 Q9P2K2 VAR_061900 p.Asn152Tyr LB/B rs28593180 - TXNDC2 Q86VQ3 VAR_022762 p.Glu341Lys LB/B rs11081510 - TXNDC2 Q86VQ3 VAR_022763 p.Gly357Asp LB/B rs2240906 - TXNDC2 Q86VQ3 VAR_022764 p.Ala461Thr LB/B rs17732496 - TXNDC2 Q86VQ3 VAR_022765 p.Arg487Thr LB/B rs17805544 - TXNDC2 Q86VQ3 VAR_057351 p.Ala225Pro LB/B rs11662946 - TXNDC2 Q86VQ3 VAR_057352 p.Ile314Leu LB/B rs2240909 - TXNDC8 Q6A555 VAR_057353 p.Asn60His LB/B rs7041938 - TXNDC9 O14530 VAR_058328 p.Leu14Gln LB/B rs11542369 - TXNDC9 O14530 VAR_058329 p.Gln38Arg LB/B rs11542371 - TXNIP Q9H3M7 VAR_048334 p.Arg177Gln LB/B rs6674773 - TXNRD1 Q16881 VAR_051776 p.Asp365Gly LB/B rs1127954 - TXNRD2 Q9NNW7 VAR_051777 p.Arg14Leu LB/B rs45593642 - TXNRD2 Q9NNW7 VAR_051778 p.Ala66Ser LB/B rs5748469 - TXNRD2 Q9NNW7 VAR_051779 p.Ser299Arg LB/B rs5992495 - TXNRD2 Q9NNW7 VAR_051780 p.Ile370Thr LB/B rs1139793 - TYK2 P29597 VAR_020286 p.Ile684Ser LB/B rs12720356 - TYK2 P29597 VAR_020597 p.Arg4His LB/B rs12720343 - TYK2 P29597 VAR_020598 p.Arg197His LB/B rs12720263 - TYK2 P29597 VAR_020599 p.Val362Phe LB/B rs2304256 - TYK2 P29597 VAR_020600 p.Gly363Ser LB/B rs2304255 - TYK2 P29597 VAR_037797 p.Ala81Val LB/B rs1049619 - TYK2 P29597 VAR_037798 p.Arg442Gln LB/B rs2304254 - TYK2 P29597 VAR_037799 p.Pro820His LB/B rs34046749 - TYK2 P29597 VAR_041870 p.Val386Met LB/B rs55956017 - TYK2 P29597 VAR_041871 p.Arg703Trp LB/B rs55882956 - TYK2 P29597 VAR_041872 p.His732Arg US - A colorectal adenocarcinoma sample TYK2 P29597 VAR_041873 p.Ala928Val LB/B rs35018800 - TYK2 P29597 VAR_041874 p.Pro1104Ala LB/B rs34536443 - TYK2 P29597 VAR_041875 p.Glu1163Gly LB/B rs55886939 - TYMP P19971 VAR_007643 p.Gly145Arg LP/P rs121913037 Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041] TYMP P19971 VAR_007644 p.Gly153Ser LP/P rs121913038 Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041] TYMP P19971 VAR_007645 p.Lys222Arg LP/P rs149977726 Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041] TYMP P19971 VAR_007646 p.Glu289Ala LP/P rs121913036 Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041] TYMP P19971 VAR_007648 p.Ser471Leu LB/B rs11479 - TYMP P19971 VAR_016777 p.Arg44Gln LP/P rs28931613 Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041] TYMS P04818 VAR_087693 p.Glu87Lys US - Dyskeratosis congenita, digenic (DKCD) [MIM:620040] TYMS P04818 VAR_087695 p.Gln160His US - Dyskeratosis congenita, digenic (DKCD) [MIM:620040] TYMSOS Q8TAI1 VAR_032162 p.Arg62Gly LB/B rs2853533 - TYR P14679 VAR_007649 p.His19Gln LP/P rs61753177 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007650 p.Pro21Ser LP/P rs61753178 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007651 p.Asp42Gly LP/P rs28940878 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007652 p.Gly47Asp LP/P rs61753180 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007653 p.Arg52Ile LB/B rs61753182 - TYR P14679 VAR_007654 p.Cys55Tyr LP/P rs28940879 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007655 p.Arg77Gln LP/P rs61753185 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007656 p.Arg77Trp LP/P rs61753184 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007657 p.Trp80Arg LP/P rs61753188 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007658 p.Pro81Leu LP/P rs28940876 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007659 p.Cys89Arg LP/P rs28940877 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007660 p.Gly97Arg LP/P rs61753252 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007661 p.Phe176Ile LP/P rs61753259 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007662 p.Ser192Tyr LB/B rs1042602 - TYR P14679 VAR_007663 p.Ala206Thr LP/P rs28940880 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007664 p.Leu216Met LP/P rs61754363 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007665 p.Arg217Gly LP/P rs63159160 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007666 p.Arg217Trp LP/P rs63159160 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007667 p.Arg217Gln LP/P rs61754365 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007668 p.Gly253Arg LP/P rs61754369 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007669 p.Val275Phe LP/P rs104894314 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007669 p.Val275Phe LP/P rs104894314 Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007670 p.Cys289Arg LP/P rs1468041471 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007671 p.Arg299His LP/P rs61754375 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007672 p.Arg299Ser LP/P rs61754374 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007673 p.Leu312Val LB/B rs61754377 - TYR P14679 VAR_007674 p.Pro313Arg LB/B rs61754378 - TYR P14679 VAR_007675 p.Thr325Ala LP/P rs61754379 Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007676 p.Ser339Gly LP/P rs62645906 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007677 p.Phe340Leu LB/B rs62645907 - TYR P14679 VAR_007678 p.Ala355Pro LP/P rs62645908 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007679 p.Asn371Thr LP/P rs61754387 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007680 p.Thr373Lys LP/P rs61754388 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007681 p.Ser380Pro LP/P rs61754391 Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007682 p.Asn382Lys LP/P rs104894315 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007683 p.Asp383Asn LP/P rs121908011 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007684 p.His390Asp LP/P rs62645914 Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007685 p.Ser395Asn LP/P rs752344007 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007686 p.Arg402Gln LB/B rs1126809 - TYR P14679 VAR_007687 p.Arg403Ser LP/P rs104894316 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007687 p.Arg403Ser LP/P rs104894316 Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007688 p.His404Pro LB/B rs62645920 - TYR P14679 VAR_007689 p.Pro406Leu LP/P rs104894313 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007689 p.Pro406Leu LP/P rs104894313 Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007690 p.Gly419Arg LP/P rs61754392 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007691 p.Arg422Gln LP/P rs61754393 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007691 p.Arg422Gln LP/P rs61754393 Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007692 p.Gly446Ser LP/P rs104894317 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007693 p.Asp448Asn LP/P rs104894318 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007925 p.Pro152Ser LP/P rs145513733 Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007927 p.Leu288Ser LP/P rs1463109821 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007928 p.Glu294Lys LP/P rs757754120 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007928 p.Glu294Lys LP/P rs757754120 Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007929 p.Glu328Gln LP/P rs61754380 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007930 p.Gly346Glu LP/P rs773970123 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007931 p.Ala355Glu LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007932 p.Ser361Arg LP/P rs61754383 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007933 p.His367Tyr LP/P rs776054795 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007934 p.Met370Thr LP/P rs61754385 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007935 p.Asn371Tyr LP/P rs61754386 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007936 p.Val393Phe LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007937 p.Arg402Gly LP/P - Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007938 p.Pro431Leu LP/P rs281865325 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_009237 p.Cys289Gly LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_009238 p.Trp400Leu LP/P rs62645916 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_011825 p.Arg308Thr LB/B rs1042608 - TYR P14679 VAR_021683 p.Cys36Tyr LP/P rs61753179 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021684 p.Ser44Gly LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021685 p.Ser44Arg LP/P rs755700581 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021686 p.Gly47Val LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021687 p.Gln68His LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021688 p.Ser79Leu LP/P rs544053015 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021689 p.Gly109Arg LP/P rs61753253 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021690 p.Thr155Ser LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021691 p.Val177Phe LP/P rs138487695 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021692 p.Met179Leu LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021693 p.His180Asn LP/P rs779878377 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021694 p.Asp199Asn LP/P rs1338186937 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021695 p.Ala201Ser LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021696 p.Pro205Thr LP/P rs61754362 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021697 p.Arg217Ser LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021699 p.Trp236Leu LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021700 p.Trp236Ser LP/P rs61754367 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021701 p.Arg239Trp LP/P rs774670098 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021702 p.Asp240Val LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021703 p.Lys243Thr LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021704 p.His256Tyr LP/P rs61754370 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021705 p.Trp272Cys LP/P rs62645902 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021706 p.Glu294Gly LP/P rs1565391875 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021707 p.Val318Glu LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021708 p.Ser329Pro LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021709 p.Met332Thr LP/P rs372534292 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021710 p.Glu345Gly LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021711 p.Gln378Lys LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021712 p.Ser395Arg LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021713 p.Glu398Ala LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021714 p.Glu398Val LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021715 p.Arg402Leu LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021716 p.His404Asn LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021717 p.Arg405Leu LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021718 p.Gln408His LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021719 p.Glu409Asp LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021720 p.Ala416Ser LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021721 p.Pro417His LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021722 p.Ser424Phe LP/P rs758747581 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021723 p.Met426Lys LP/P rs1362285246 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021724 p.Val427Gly LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021725 p.Arg434Ile LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021726 p.Asn435Asp LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021727 p.Phe439Val LP/P rs281865327 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021728 p.Asp444Gly LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_034576 p.Phe134Cys LB/B rs33955261 - TYR P14679 VAR_042665 p.Lys142Asn LB/B rs11545463 - TYR P14679 VAR_071756 p.Ile198Thr LP/P rs750553908 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_072592 p.Ser50Leu LP/P rs61753181 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_072593 p.Cys91Tyr LP/P rs137854890 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_072594 p.Arg298Trp LP/P rs200854796 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_072595 p.Ala355Val LP/P rs151206295 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_072596 p.Asn364His LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_072597 p.Pro384Ala LP/P - Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYR P14679 VAR_072598 p.Ala490Asp LP/P rs1050708792 Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100] TYRO3 Q06418 VAR_041876 p.Ala831Thr LB/B - - TYRO3 Q06418 VAR_045886 p.Pro21Leu LB/B rs17854578 - TYRO3 Q06418 VAR_045887 p.Ile346Asn LB/B rs12148316 - TYRO3 Q06418 VAR_045888 p.Gly542Ser LB/B rs17857363 - TYRO3 Q06418 VAR_045889 p.Ala815Val LB/B rs1042057 - TYRO3 Q06418 VAR_045890 p.Leu819Met LB/B rs17854579 - TYRO3 Q06418 VAR_045891 p.Arg824Gly LB/B rs17857364 - TYROBP O43914 VAR_011985 p.Tyr111His LB/B rs14714 - TYROBP O43914 VAR_081398 p.Gly2Glu US rs200649978 - TYROBP O43914 VAR_081399 p.Arg23Cys US rs769635655 - TYROBP O43914 VAR_081400 p.Val47Ala US rs372140827 - TYROBP O43914 VAR_081402 p.Val55Leu US rs77782321 - TYROBP O43914 VAR_081403 p.Arg80Trp US rs140188939 - TYROBP O43914 VAR_081404 p.Ile84Val US - - TYROBP O43914 VAR_081405 p.Ser89Leu US rs557854792 - TYRP1 P17643 VAR_026827 p.Arg326His LB/B rs16929374 - TYRP1 P17643 VAR_026828 p.Arg356Gln LP/P rs281865424 Albinism, oculocutaneous, 3 (OCA3) [MIM:203290] TYRP1 P17643 VAR_068176 p.Arg93Cys LB/B rs387907171 - TYRP1 P17643 VAR_072599 p.Ala24Thr LP/P rs61758405 Albinism, oculocutaneous, 3 (OCA3) [MIM:203290] TYSND1 Q2T9J0 VAR_059758 p.Thr65Ala LB/B rs4746970 - TYW1 Q9NV66 VAR_031288 p.Gly462Val LB/B rs2261015 - TYW1 Q9NV66 VAR_031289 p.His632Arg LB/B rs2949097 - TYW1 Q9NV66 VAR_031290 p.Asp671Asn LB/B rs28450001 - TYW3 Q6IPR3 VAR_031292 p.Arg110Gln LB/B rs11538281 - TYW3 Q6IPR3 VAR_031293 p.Met121Val LB/B rs1133891 - TYW5 A2RUC4 VAR_036926 p.Ser50Gly LB/B rs10497844 - U2AF1 Q01081 VAR_079637 p.Ser34Phe LP/P rs371769427 Myelodysplastic syndrome (MDS) [MIM:614286] U2AF1 Q01081 VAR_079638 p.Ser34Tyr LP/P rs371769427 Myelodysplastic syndrome (MDS) [MIM:614286] U2AF1 Q01081 VAR_079639 p.Gln157Arg LP/P rs371246226 Myelodysplastic syndrome (MDS) [MIM:614286] UACA Q9BZF9 VAR_048313 p.Ile814Thr LB/B rs3743315 - UAP1 Q16222 VAR_014935 p.Pro418His LB/B rs1128539 - UAP1L1 Q3KQV9 VAR_039839 p.Ala319Val LB/B rs7037849 - UAP1L1 Q3KQV9 VAR_039840 p.Pro373Ser LB/B rs1122444 - UBA1 P22314 VAR_043500 p.Arg447His LB/B rs2070169 - UBA1 P22314 VAR_043501 p.Met539Ile LP/P rs80356545 Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830] UBA1 P22314 VAR_043502 p.Ser547Gly LP/P rs80356546 Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830] UBA1 P22314 VAR_071121 p.Glu557Val LP/P - Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830] UBA1 P22314 VAR_085160 p.Met41Leu LP/P - VEXAS syndrome (VEXAS) [MIM:301054] UBA1 P22314 VAR_085161 p.Met41Thr LP/P - VEXAS syndrome (VEXAS) [MIM:301054] UBA1 P22314 VAR_085162 p.Met41Val LP/P - VEXAS syndrome (VEXAS) [MIM:301054] UBA2 Q9UBT2 VAR_017689 p.Leu307Arg LB/B rs1043062 - UBA2 Q9UBT2 VAR_087611 p.Gly24Val LP/P rs2075211884 ACCES syndrome (ACCES) [MIM:619959] UBA2 Q9UBT2 VAR_087612 p.Asn56Thr LP/P rs2075242496 ACCES syndrome (ACCES) [MIM:619959] UBA2 Q9UBT2 VAR_087614 p.Arg122Gly LP/P - ACCES syndrome (ACCES) [MIM:619959] UBA2 Q9UBT2 VAR_087616 p.Glu483Lys LP/P rs2075619600 ACCES syndrome (ACCES) [MIM:619959] UBA3 Q8TBC4 VAR_023945 p.Lys9Arg LB/B rs17852113 - UBA5 Q9GZZ9 VAR_077153 p.Arg55His LP/P rs774318611 Developmental and epileptic encephalopathy 44 (DEE44) [MIM:617132] UBA5 Q9GZZ9 VAR_077154 p.Met57Val LP/P rs532178791 Developmental and epileptic encephalopathy 44 (DEE44) [MIM:617132] UBA5 Q9GZZ9 VAR_077155 p.Gly168Glu LP/P rs886039761 Developmental and epileptic encephalopathy 44 (DEE44) [MIM:617132] UBA5 Q9GZZ9 VAR_077156 p.Val260Met LP/P rs886039759 Developmental and epileptic encephalopathy 44 (DEE44) [MIM:617132] UBA5 Q9GZZ9 VAR_077157 p.Lys310Glu LP/P rs886039762 Spinocerebellar ataxia, autosomal recessive, 24 (SCAR24) [MIM:617133] UBA5 Q9GZZ9 VAR_077158 p.Ala371Thr LP/P rs114925667 Developmental and epileptic encephalopathy 44 (DEE44) [MIM:617132] UBA5 Q9GZZ9 VAR_077159 p.Asp389Tyr LP/P rs886039760 Developmental and epileptic encephalopathy 44 (DEE44) [MIM:617132] UBA6 A0AVT1 VAR_030594 p.Ala224Thr LB/B rs10010188 - UBA7 P41226 VAR_047793 p.His817Arg LB/B rs2230149 - UBA7 P41226 VAR_052434 p.Pro712Ser LB/B rs11928913 - UBAC1 Q9BSL1 VAR_027562 p.Glu374Asp LB/B rs11103231 - UBAP1 Q9NZ09 VAR_034577 p.Asn357Lys LB/B rs16935457 - UBAP2 Q5T6F2 VAR_029834 p.Asn606Ser LB/B rs307658 - UBAP2 Q5T6F2 VAR_029835 p.Ala756Val LB/B rs307692 - UBAP2 Q5T6F2 VAR_052677 p.Arg14Gln LB/B rs1785506 - UBAP2 Q5T6F2 VAR_052678 p.Pro429Leu LB/B rs10971809 - UBAP2 Q5T6F2 VAR_052679 p.Met762Ile LB/B rs16935295 - UBAP2L Q14157 VAR_026829 p.Gln482His LB/B rs17849745 - UBASH3A P57075 VAR_026971 p.Ser18Gly LB/B rs2277798 - UBASH3A P57075 VAR_026972 p.Leu28Phe LB/B rs2277800 - UBASH3A P57075 VAR_026973 p.Gln286Arg LB/B rs775952011 - UBASH3A P57075 VAR_052675 p.Asp466Glu LB/B rs17114930 - UBASH3A P57075 VAR_061921 p.Arg324Leu LB/B rs13048049 - UBASH3A P57075 VAR_061922 p.Arg324Gln LB/B rs13048049 - UBASH3B Q8TF42 VAR_052676 p.Ala68Thr LB/B rs12790613 - UBASH3B Q8TF42 VAR_061923 p.Asn569Ser LB/B rs35343548 - UBD O15205 VAR_024273 p.Leu51Ser LB/B rs2076484 - UBD O15205 VAR_024274 p.Ile68Thr LB/B rs2076485 - UBD O15205 VAR_024275 p.Ser95Pro LB/B rs2076486 - UBD O15205 VAR_024276 p.Cys162Phe LB/B rs7757931 - UBD O15205 VAR_025401 p.Ala99Gly LB/B rs2076487 - UBD O15205 VAR_025402 p.Cys160Ser LB/B rs8337 - UBD O15205 VAR_052693 p.Glu120Lys LB/B rs17184290 - UBE2A P49459 VAR_066627 p.Arg11Gln LP/P rs387906728 Intellectual developmental disorder, X-linked, syndromic, Nascimento-type (MRXSN) [MIM:300860] UBE2A P49459 VAR_066628 p.Gly23Arg LP/P rs1556235551 Intellectual developmental disorder, X-linked, syndromic, Nascimento-type (MRXSN) [MIM:300860] UBE2C O00762 VAR_007694 p.Gly25Asp LB/B - - UBE2E1 P51965 VAR_061868 p.Glu25Asp LB/B rs36060625 - UBE2E3 Q969T4 VAR_023392 p.Trp201Arg LB/B rs2368192 - UBE2J1 Q9Y385 VAR_019689 p.Gly55Val LB/B rs8099 - UBE2J1 Q9Y385 VAR_019690 p.Leu229Val LB/B rs10502 - UBE2O Q9C0C9 VAR_031184 p.Gly1207Ser LB/B rs3803739 - UBE2T Q9NPD8 VAR_073861 p.Gln2Glu LP/P rs774357609 Fanconi anemia complementation group T (FANCT) [MIM:616435] UBE2U Q5VVX9 VAR_057323 p.Ile90Thr LB/B rs7532933 - UBE2V2 Q15819 VAR_052431 p.Glu36Gly LB/B rs11557776 - UBE2V2 Q15819 VAR_052433 p.Pro78Gln LB/B rs11557786 - UBE3A Q05086 VAR_007852 p.Cys44Tyr LB/B - - UBE3A Q05086 VAR_007853 p.Ala201Thr LB/B rs147145506 - UBE3A Q05086 VAR_008142 p.Arg62His LB/B rs587784511 - UBE3A Q05086 VAR_008143 p.Ser372Pro LB/B - - UBE3A Q05086 VAR_047516 p.Val290Gly LB/B rs1059383 - UBE3A Q05086 VAR_073196 p.Thr129Lys US rs587781241 Angelman syndrome (AS) [MIM:105830] UBE3A Q05086 VAR_073197 p.Cys140Arg LB/B rs587782907 - UBE3A Q05086 VAR_073198 p.Val156Gly LB/B rs587782915 - UBE3A Q05086 VAR_073199 p.Asp235Val US rs587780581 Angelman syndrome (AS) [MIM:105830] UBE3A Q05086 VAR_073200 p.Leu260His US rs587780582 Angelman syndrome (AS) [MIM:105830] UBE3A Q05086 VAR_073201 p.Leu260Gln US - Angelman syndrome (AS) [MIM:105830] UBE3A Q05086 VAR_073202 p.Leu286Trp US rs587780583 Angelman syndrome (AS) [MIM:105830] UBE3A Q05086 VAR_073203 p.Asn293Thr LB/B rs587782908 - UBE3A Q05086 VAR_073204 p.Ser358Thr LB/B rs141984760 - UBE3A Q05086 VAR_073205 p.Leu458Pro US rs587781242 Angelman syndrome (AS) [MIM:105830] UBE3A Q05086 VAR_073206 p.Pro481Leu US rs587780584 Angelman syndrome (AS) [MIM:105830] UBE3A Q05086 VAR_073207 p.Arg500Pro US rs587781243 Angelman syndrome (AS) [MIM:105830] UBE3A Q05086 VAR_073208 p.Met501Ile LB/B rs587782916 - UBE3A Q05086 VAR_073209 p.Gly568Arg US rs587781233 Angelman syndrome (AS) [MIM:105830] UBE3A Q05086 VAR_073210 p.Met589Lys US rs587781244 Angelman syndrome (AS) [MIM:105830] UBE3A Q05086 VAR_073211 p.Glu607Gln US rs587781235 Angelman syndrome (AS) [MIM:105830] UBE3A Q05086 VAR_073212 p.Gln611Glu LB/B rs587782918 - UBE3A Q05086 VAR_073213 p.Gln611Pro LB/B rs587782919 - UBE3A Q05086 VAR_073214 p.Thr679Ile US rs587781236 Angelman syndrome (AS) [MIM:105830] UBE3A Q05086 VAR_073215 p.Leu696Arg LB/B rs587782920 - UBE3A Q05086 VAR_073216 p.Phe713Cys US rs587781237 Angelman syndrome (AS) [MIM:105830] UBE3A Q05086 VAR_073217 p.Val785Ile LB/B rs587782910 - UBE3A Q05086 VAR_073218 p.Pro850Leu US rs587781239 Angelman syndrome (AS) [MIM:105830] UBE3B Q7Z3V4 VAR_031302 p.Arg346Gln LB/B rs7298565 - UBE3B Q7Z3V4 VAR_069712 p.Gln727Pro LP/P rs398123023 Kaufman oculocerebrofacial syndrome (KOS) [MIM:244450] UBE3D Q7Z6J8 VAR_037152 p.Thr174Pro LB/B rs12528542 - UBE3D Q7Z6J8 VAR_037153 p.Val379Met LB/B rs7739323 - UBE4B O95155 VAR_052437 p.Val605Ile LB/B rs17034499 - UBIAD1 Q9Y5Z9 VAR_043713 p.Ser75Phe LB/B rs114000606 - UBIAD1 Q9Y5Z9 VAR_043714 p.Asn102Ser LP/P rs118203945 Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043715 p.Asp112Gly LP/P rs118203950 Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043716 p.Asp118Gly LP/P - Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043717 p.Arg119Gly LP/P rs118203947 Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043718 p.Leu121Phe LP/P - Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043719 p.Ser171Pro LP/P rs118203951 Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043720 p.Thr175Ile LP/P rs118203948 Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043721 p.Gly177Arg LP/P rs118203946 Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043722 p.Gly186Arg LP/P rs118203952 Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043723 p.Asn232Ser LP/P rs118203949 Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043724 p.Asp236Glu LP/P rs118203953 Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_064337 p.Ala97Thr LP/P - Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_064338 p.Gly98Ser LP/P - Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_064339 p.Asp112Asn LP/P - Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_064340 p.Val122Glu LP/P - Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_064341 p.Val122Gly LP/P - Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_064342 p.Leu188His LP/P - Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_064343 p.Asp240Asn LP/P rs371811409 Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_069267 p.Gly177Glu LP/P rs397514669 Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] UBN1 Q9NPG3 VAR_051465 p.Tyr435Cys LB/B rs35103368 - UBN2 Q6ZU65 VAR_033347 p.Pro1308Ala LB/B rs17160850 - UBOX5 O94941 VAR_046402 p.Thr96Met LB/B rs999409 - UBOX5 O94941 VAR_046403 p.Leu479Pro LB/B rs34205880 - UBP1 Q9NZI7 VAR_025730 p.Thr212Ala LB/B rs17854430 - UBP1 Q9NZI7 VAR_049294 p.Asn109Ser LB/B rs3736563 - UBQLN2 Q9UHD9 VAR_052680 p.Leu235His LB/B rs17002693 - UBQLN2 Q9UHD9 VAR_066562 p.Pro497His LP/P rs387906709 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857] UBQLN2 Q9UHD9 VAR_066563 p.Pro497Ser LP/P rs387906710 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857] UBQLN2 Q9UHD9 VAR_066564 p.Pro506Thr LP/P rs387906711 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857] UBQLN2 Q9UHD9 VAR_066565 p.Pro509Ser LP/P rs387906712 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857] UBQLN2 Q9UHD9 VAR_066566 p.Pro525Ser LP/P rs369947678 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857] UBQLN2 Q9UHD9 VAR_068892 p.Ser155Asn US rs374522677 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857] UBQLN2 Q9UHD9 VAR_068893 p.Pro189Thr US rs1490021329 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857] UBQLN2 Q9UHD9 VAR_068894 p.Ala282Val LB/B rs1001930696 - UBQLN2 Q9UHD9 VAR_068895 p.Ala283Thr LP/P rs749463696 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857] UBQLN2 Q9UHD9 VAR_068896 p.Gln425Arg LP/P rs1243726473 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857] UBQLN2 Q9UHD9 VAR_068897 p.Thr487Ile LP/P rs1569254459 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857] UBQLN3 Q9H347 VAR_020363 p.Arg624Gln LB/B rs2227271 - UBQLN3 Q9H347 VAR_034578 p.Met546Thr LB/B rs2234455 - UBQLN3 Q9H347 VAR_052681 p.Cys255Arg LB/B rs2234446 - UBQLN3 Q9H347 VAR_052682 p.Asn285Asp LB/B rs2234449 - UBQLN3 Q9H347 VAR_052683 p.Thr287Ala LB/B rs2234450 - UBQLN3 Q9H347 VAR_052684 p.Thr290Ser LB/B rs2234451 - UBQLN4 Q9NRR5 VAR_052685 p.Ile495Met LB/B rs2297792 - UBQLN4 Q9NRR5 VAR_081427 p.Asp90Ala LP/P rs1465567777 Amyotrophic lateral sclerosis (ALS) [MIM:105400] UBQLNL Q8IYU4 VAR_036652 p.Asp92Val LB/B rs7933557 - UBQLNL Q8IYU4 VAR_036653 p.Gln143Lys LB/B rs3802978 - UBQLNL Q8IYU4 VAR_036654 p.Cys171Arg LB/B rs2047456 - UBQLNL Q8IYU4 VAR_036655 p.Gly259Asp LB/B rs16932225 - UBQLNL Q8IYU4 VAR_036656 p.Tyr274His LB/B rs2017434 - UBQLNL Q8IYU4 VAR_036657 p.Ala275Val LB/B rs2017433 - UBQLNL Q8IYU4 VAR_036658 p.Trp379Gly LB/B rs393044 - UBQLNL Q8IYU4 VAR_036659 p.Gln455Glu LB/B rs12223282 - UBR1 Q8IWV7 VAR_024741 p.His136Arg LP/P rs119477054 Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_024742 p.Gly1279Ser LP/P - Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_034467 p.Lys596Met LB/B rs34568456 - UBR1 Q8IWV7 VAR_052116 p.Ile899Val LB/B rs35069201 - UBR1 Q8IWV7 VAR_061822 p.Thr1548Ala LB/B rs3917223 - UBR1 Q8IWV7 VAR_075179 p.Val122Leu LP/P - Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_075180 p.Cys127Phe LP/P - Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_075181 p.His166Arg LP/P - Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_075182 p.Leu217Arg LP/P - Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_075183 p.Ile286Arg LP/P - Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_075184 p.Leu317Pro LP/P - Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_075186 p.Leu427Arg US rs1158249054 Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_075187 p.Ala563Asp LP/P rs768686147 Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_075189 p.Ser700Pro LP/P - Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_075190 p.Arg754Cys LP/P rs1388367359 Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_075191 p.Arg754His LP/P rs1567131023 Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_075192 p.Gln1102Glu LP/P - Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_075193 p.Arg1242Gly LP/P rs1235541565 Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_075194 p.Pro1426Leu LP/P - Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_075195 p.Ser1427Phe LP/P rs1480939799 Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_075196 p.Ser1431Pro LP/P rs140972409 Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_075197 p.Gly1661Arg LP/P - Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR2 Q8IWV8 VAR_023283 p.Ala1095Thr LB/B rs6917033 - UBR2 Q8IWV8 VAR_052117 p.Glu172Asp LB/B rs6905054 - UBR2 Q8IWV8 VAR_059816 p.Ala1095Pro LB/B rs6917033 - UBR2 Q8IWV8 VAR_059817 p.Ala1095Ser LB/B rs6917033 - UBR4 Q5T4S7 VAR_032193 p.Thr1107Ala LB/B rs16862578 - UBR4 Q5T4S7 VAR_032194 p.Met4867Leu LB/B rs12584 - UBR4 Q5T4S7 VAR_032195 p.Gly4924Arg US - A melanoma patient UBR4 Q5T4S7 VAR_032196 p.Val5084Met LB/B rs2274010 - UBR4 Q5T4S7 VAR_035540 p.Arg1394His US rs756549939 A breast cancer sample UBR5 O95071 VAR_051466 p.Ser2150Arg LB/B rs1062822 - UBR7 Q8N806 VAR_085256 p.Trp305Ser US - Li-Campeau syndrome (LICAS) [MIM:619189] UBTD2 Q8WUN7 VAR_052694 p.Met129Ile LB/B rs17074452 - UBTF P17480 VAR_080139 p.Glu210Lys LP/P rs1555582065 Neurodegeneration, childhood-onset, with brain atrophy (CONDBA) [MIM:617672] UBXN1 Q04323 VAR_057370 p.Leu56Phe LB/B rs11543359 - UBXN11 Q5T124 VAR_031860 p.Glu165Gly LB/B rs6695966 - UBXN11 Q5T124 VAR_031861 p.Leu312Arg LB/B rs4332350 - UBXN11 Q5T124 VAR_031862 p.Ala474Val LB/B - - UBXN11 Q5T124 VAR_052690 p.Pro509Ser LB/B rs1134584 - UBXN4 Q92575 VAR_052686 p.Ser458Arg LB/B rs2304602 - UBXN6 Q9BZV1 VAR_047821 p.Pro425Leu LB/B rs35436704 - UBXN6 Q9BZV1 VAR_061924 p.Ala31Thr LB/B rs1127888 - UBXN8 O00124 VAR_052687 p.Val18Met LB/B rs3174043 - UBXN8 O00124 VAR_052688 p.Ile51Thr LB/B rs2911690 - UCHL1 P09936 VAR_015677 p.Ser18Tyr LB/B rs5030732 - UCHL1 P09936 VAR_015678 p.Ile93Met LP/P rs121917767 Parkinson disease 5 (PARK5) [MIM:613643] UCHL1 P09936 VAR_070875 p.Glu7Ala LP/P rs397515634 Spastic paraplegia 79B, autosomal recessive (SPG79B) [MIM:615491] UCHL1 P09936 VAR_078119 p.Arg178Gln LP/P rs768996179 Spastic paraplegia 79B, autosomal recessive (SPG79B) [MIM:615491] UCHL1 P09936 VAR_078120 p.Ala216Asp LP/P rs1057519600 Spastic paraplegia 79B, autosomal recessive (SPG79B) [MIM:615491] UCHL5 Q9Y5K5 VAR_011613 p.Ile197Phe LB/B - - UCN3 Q969E3 VAR_060410 p.Glu77Lys LB/B rs12768730 - UCN3 Q969E3 VAR_060411 p.Arg91Gly LB/B rs10904481 - UCP1 P25874 VAR_022840 p.Ala64Thr LB/B rs45539933 - UCP1 P25874 VAR_022841 p.Met229Leu LB/B rs2270565 - UCP2 P55851 VAR_016129 p.Ala55Val LB/B rs660339 - UCP2 P55851 VAR_023998 p.Arg76Gln LB/B rs45541732 - UCP2 P55851 VAR_023999 p.Arg154Gln LB/B rs45486692 - UCP2 P55851 VAR_024000 p.Ala268Gly LB/B rs45490393 - UCP2 P55851 VAR_024001 p.Ser282Cys LB/B rs45596837 - UCP3 P55916 VAR_004407 p.Arg70Trp LB/B rs17848368 - UCP3 P55916 VAR_004408 p.Val102Ile LP/P rs2229707 Obesity (OBESITY) [MIM:601665] UCP3 P55916 VAR_050136 p.Val9Met LB/B rs8179180 - UFC1 Q9Y3C8 VAR_028312 p.Tyr90Cys LB/B rs17849932 - UFC1 Q9Y3C8 VAR_081216 p.Arg23Gln LP/P rs1181612302 Neurodevelopmental disorder with spasticity and poor growth (NEDSG) [MIM:618076] UFC1 Q9Y3C8 VAR_081217 p.Thr106Ile LP/P rs1553232770 Neurodevelopmental disorder with spasticity and poor growth (NEDSG) [MIM:618076] UFD1 Q92890 VAR_052436 p.Pro130Ala LB/B rs17744624 - UFL1 O94874 VAR_034037 p.Val137Phe LB/B rs28372909 - UFM1 P61960 VAR_081218 p.Arg81Cys LP/P rs1033946108 Leukodystrophy, hypomyelinating, 14 (HLD14) [MIM:617899] UFSP1 Q6NVU6 VAR_031125 p.Leu47Val LB/B rs12666989 - UFSP2 Q9NUQ7 VAR_031126 p.Asn83Thr LB/B rs17850669 - UFSP2 Q9NUQ7 VAR_074673 p.Tyr290His LP/P rs796052130 Beukes hip dysplasia (HDB) [MIM:142669] UFSP2 Q9NUQ7 VAR_079708 p.Asp426Ala LP/P rs1554022725 Spondyloepimetaphyseal dysplasia, Di Rocco type (SEMDDR) [MIM:617974] UFSP2 Q9NUQ7 VAR_087725 p.Val115Glu LP/P - Developmental and epileptic encephalopathy 106 (DEE106) [MIM:620028] UFSP2 Q9NUQ7 VAR_087726 p.His428Arg LP/P - Spondyloepimetaphyseal dysplasia, Di Rocco type (SEMDDR) [MIM:617974] UGDH O60701 VAR_083750 p.Tyr14Cys LP/P - Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083751 p.Ala24Thr US - Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083752 p.Ile42Thr US - Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083753 p.Ala44Val LP/P rs749975104 Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083755 p.Ser72Ala LP/P - Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083756 p.Ala82Thr LP/P - Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083757 p.Ile116Thr US - Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083759 p.Pro175Ala US rs756467468 Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083760 p.Glu217Asp US - Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083761 p.Ile255Thr US rs1186496501 Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083762 p.Gly271Arg US - Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083763 p.Val303Ile US - Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083764 p.Met306Val US - Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083765 p.Arg317Gln US rs775162839 Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083767 p.Tyr367Cys LP/P - Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083768 p.Arg393Trp US rs113094436 Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083769 p.Ala410Ser US rs770456604 Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083770 p.Arg442Trp US rs201894374 Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083771 p.Arg443His US - Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGDH O60701 VAR_083772 p.His449Arg US - Developmental and epileptic encephalopathy 84 (DEE84) [MIM:618792] UGGT2 Q9NYU1 VAR_030006 p.Ala323Thr LB/B rs12863903 - UGGT2 Q9NYU1 VAR_030007 p.Ser328Ala LB/B rs816142 - UGGT2 Q9NYU1 VAR_030008 p.Met994Leu LB/B rs12876018 - UGGT2 Q9NYU1 VAR_055849 p.Ala821Thr LB/B rs33949518 - UGGT2 Q9NYU1 VAR_055850 p.Phe924Ile LB/B rs35780499 - UGGT2 Q9NYU1 VAR_055851 p.Phe1274Leu LB/B rs9525072 - UGGT2 Q9NYU1 VAR_061196 p.Lys865Arg LB/B rs35060832 - UGGT2 Q9NYU1 VAR_061197 p.Tyr1285Phe LB/B rs35123499 - UGP2 Q16851 VAR_033042 p.Met268Ile LB/B rs1130982 - UGP2 Q16851 VAR_083746 p.Met12Val LP/P rs768305634 Developmental and epileptic encephalopathy 83 (DEE83) [MIM:618744] UGT1A1 P22309 VAR_007697 p.Cys177Arg LP/P rs72551342 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007698 p.Arg209Trp LP/P rs72551343 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_007699 p.Gly276Arg LP/P rs72551345 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007700 p.Ala292Val LP/P rs758873309 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007701 p.Gly308Glu LP/P rs62625011 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007702 p.Gln331Arg LP/P rs72551348 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_007703 p.Gln357Arg LP/P rs72551351 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007704 p.Ala368Thr LP/P rs72551352 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007705 p.Ser375Phe LP/P rs72551353 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007706 p.Ser381Arg LP/P rs72551354 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007707 p.Ala401Pro LP/P rs72551355 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007708 p.Lys428Glu LP/P rs72551356 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007709 p.Tyr486Asp LP/P rs34993780 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_007709 p.Tyr486Asp LP/P rs34993780 Gilbert syndrome (GILBS) [MIM:143500] UGT1A1 P22309 VAR_007709 p.Tyr486Asp LP/P rs34993780 Transient familial neonatal hyperbilirubinemia (HBLRTFN) [MIM:237900] UGT1A1 P22309 VAR_009504 p.Gly71Arg LP/P rs4148323 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_009504 p.Gly71Arg LP/P rs4148323 Gilbert syndrome (GILBS) [MIM:143500] UGT1A1 P22309 VAR_009504 p.Gly71Arg LP/P rs4148323 Transient familial neonatal hyperbilirubinemia (HBLRTFN) [MIM:237900] UGT1A1 P22309 VAR_009505 p.Pro229Gln LP/P rs35350960 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_009505 p.Pro229Gln LP/P rs35350960 Gilbert syndrome (GILBS) [MIM:143500] UGT1A1 P22309 VAR_012283 p.Arg367Gly LP/P rs55750087 Gilbert syndrome (GILBS) [MIM:143500] UGT1A1 P22309 VAR_019410 p.Leu15Arg LP/P rs111033541 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_019411 p.Leu175Gln LP/P rs72551341 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_019412 p.Asn400Asp LP/P rs28934877 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_025355 p.Ala511Pro LB/B rs1042709 - UGT1A1 P22309 VAR_026134 p.Pro34Gln LP/P - Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026135 p.His39Asp LP/P rs72551339 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026136 p.Phe83Leu LP/P rs56059937 Gilbert syndrome (GILBS) [MIM:143500] UGT1A1 P22309 VAR_026137 p.Val225Gly LP/P rs35003977 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026138 p.Glu291Val LP/P - Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026139 p.Ile294Thr LP/P rs72551347 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026139 p.Ile294Thr LP/P rs72551347 Gilbert syndrome (GILBS) [MIM:143500] UGT1A1 P22309 VAR_026140 p.Arg336Leu LP/P - Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026140 p.Arg336Leu LP/P - Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026141 p.Arg336Gln LP/P rs750453538 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026142 p.Arg336Trp LP/P rs139607673 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026143 p.Trp354Arg LP/P rs1559414817 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026144 p.His376Arg LP/P rs1349037761 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026144 p.His376Arg LP/P rs1349037761 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026145 p.Gly377Val LP/P rs1283652721 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026145 p.Gly377Val LP/P rs1283652721 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026146 p.Pro387Ser LP/P rs901936528 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026147 p.Gly395Val LP/P rs367897068 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026148 p.Arg403Cys LP/P rs778766461 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026149 p.Trp461Arg LP/P rs1476500325 Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026149 p.Trp461Arg LP/P rs1476500325 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026150 p.Ala478Asp LP/P - Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_064956 p.Ser191Phe LP/P - Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_064957 p.Asn279Tyr LP/P rs397978903 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_064958 p.Ile370Val LP/P rs748989741 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_064959 p.Pro387His LP/P - Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_064960 p.Lys402Thr LP/P - Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_064961 p.Leu443Pro LP/P rs758411577 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_071402 p.Asp36Asn LP/P - Crigler-Najjar syndrome 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_071403 p.Tyr230Cys LP/P rs754922685 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_071404 p.Arg367Cys LP/P rs55750087 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] UGT1A10 Q9HAW8 VAR_018354 p.Met59Ile LB/B rs56935833 - UGT1A10 Q9HAW8 VAR_018355 p.Thr202Ile LB/B rs58704432 - UGT1A10 Q9HAW8 VAR_052464 p.Glu139Lys LB/B rs10187694 - UGT1A10 Q9HAW8 VAR_052465 p.Leu244Ile LB/B rs28969685 - UGT1A3 P35503 VAR_052445 p.Gln6Arg LB/B rs28898617 - UGT1A3 P35503 VAR_052446 p.Trp11Arg LB/B rs3821242 - UGT1A3 P35503 VAR_052447 p.Arg45Trp LB/B rs45625338 - UGT1A3 P35503 VAR_052448 p.Val47Ala LB/B rs6431625 - UGT1A3 P35503 VAR_052449 p.Arg49Trp LB/B rs45595237 - UGT1A3 P35503 VAR_052450 p.Thr78Ile LB/B rs28898618 - UGT1A3 P35503 VAR_052451 p.Met114Ile LB/B rs28898619 - UGT1A3 P35503 VAR_052452 p.Thr144Ile LB/B rs13406898 - UGT1A3 P35503 VAR_052453 p.Met270Val LB/B rs45449995 - UGT1A3 P35503 VAR_058583 p.Ala158Val LB/B rs61764030 - UGT1A4 P22310 VAR_024684 p.Pro24Thr LB/B rs6755571 - UGT1A4 P22310 VAR_052454 p.Ile176Phe LB/B rs45540231 - UGT1A4 P22310 VAR_058584 p.Leu48Val LB/B rs2011425 - UGT1A4 P22310 VAR_059844 p.Arg11Trp LB/B rs3892221 - UGT1A4 P22310 VAR_061870 p.His68Tyr LB/B rs45621441 - UGT1A5 P35504 VAR_052455 p.Leu48Ser LB/B rs3755323 - UGT1A5 P35504 VAR_052456 p.Leu63Pro LB/B rs3755321 - UGT1A5 P35504 VAR_052457 p.Thr144Ser LB/B rs28946885 - UGT1A5 P35504 VAR_052458 p.Ala158Gly LB/B rs12475068 - UGT1A5 P35504 VAR_052459 p.His225Tyr LB/B rs17862867 - UGT1A5 P35504 VAR_052460 p.Val249Leu LB/B rs17862868 - UGT1A5 P35504 VAR_052461 p.Gly259Arg LB/B rs3892170 - UGT1A5 P35504 VAR_059845 p.Asp50Glu LB/B rs3755322 - UGT1A5 P35504 VAR_059846 p.His142Asn LB/B rs3755320 - UGT1A6 P19224 VAR_014784 p.Thr181Ala LB/B rs2070959 - UGT1A6 P19224 VAR_015559 p.Arg184Ser LB/B rs1105879 - UGT1A6 P19224 VAR_024685 p.Ser7Ala LB/B rs6759892 - UGT1A6 P19224 VAR_026628 p.Ser70Tyr LB/B rs1042708 - UGT1A6 P19224 VAR_026629 p.Ala510Pro LB/B rs1042709 - UGT1A7 Q9HAW7 VAR_015556 p.Asn129Lys LB/B rs17868323 - UGT1A7 Q9HAW7 VAR_015557 p.Arg131Lys LB/B rs386656364 - UGT1A7 Q9HAW7 VAR_015558 p.Trp208Arg LB/B rs11692021 - UGT1A7 Q9HAW7 VAR_052462 p.Arg131Gln LB/B rs17868324 - UGT1A8 Q9HAW9 VAR_015543 p.Lys132Arg LB/B - - UGT1A8 Q9HAW9 VAR_015544 p.Gly154Ala LB/B - - UGT1A8 Q9HAW9 VAR_015545 p.Ala173Gly LB/B rs1042597 - UGT1A8 Q9HAW9 VAR_015546 p.Thr202Ala LB/B - - UGT1A8 Q9HAW9 VAR_015547 p.Met212Leu LB/B rs1126803 - UGT1A8 Q9HAW9 VAR_015549 p.Cys277Tyr LB/B rs17863762 - UGT1A8 Q9HAW9 VAR_052463 p.His53Asn LB/B rs45504099 - UGT1A8 Q9HAW9 VAR_058585 p.Ala144Val LB/B rs17862841 - UGT1A8 Q9HAW9 VAR_058586 p.Ala231Thr LB/B rs72551325 - UGT1A8 Q9HAW9 VAR_061871 p.Ala173Val LB/B rs1042597 - UGT1A9 O60656 VAR_036035 p.Ser442Ile US - A breast cancer sample UGT1A9 O60656 VAR_058587 p.Met33Thr LB/B rs72551330 - UGT2A1 P0DTE4 VAR_057326 p.Val391Ile LB/B rs4148304 - UGT2B15 P54855 VAR_007713 p.Tyr85Asp LB/B rs1902023 - UGT2B15 P54855 VAR_018348 p.Lys523Thr LB/B rs4148269 - UGT2B28 Q9BY64 VAR_059847 p.Leu365His LB/B rs4235127 - UGT2B28 Q9BY64 VAR_060661 p.Ile447Arg LB/B rs6843900 - UGT2B28 Q9BY64 VAR_060662 p.His458Asp LB/B rs6828191 - UGT2B4 P06133 VAR_007712 p.Asp458Glu LB/B rs13119049 - UGT2B4 P06133 VAR_011328 p.Phe109Leu LB/B - - UGT2B4 P06133 VAR_011329 p.Phe396Leu LB/B rs72552707 - UGT2B4 P06133 VAR_060713 p.Lys40Asn LB/B rs41299974 - UGT2B4 P06133 VAR_060714 p.Pro78Thr LB/B rs41299976 - UGT2B4 P06133 VAR_060715 p.Ser80Pro LB/B rs41299978 - UGT2B4 P06133 VAR_060716 p.Val277Ile LB/B rs41300004 - UGT2B4 P06133 VAR_060717 p.Cys511Arg LB/B rs41298245 - UGT2B7 P16662 VAR_012342 p.Tyr268His LB/B rs7439366 - UGT2B7 P16662 VAR_057327 p.Ala71Ser LB/B rs12233719 - UGT2B7 P16662 VAR_057328 p.Asn378Ser LB/B rs35590824 - UGT3A1 Q6NUS8 VAR_034791 p.Cys121Gly LB/B rs3756669 - UGT3A2 Q3SY77 VAR_036036 p.Arg515His US rs138640717 A colorectal cancer sample UGT3A2 Q3SY77 VAR_057329 p.Tyr74Asn LB/B rs2197514 - UGT8 Q16880 VAR_052466 p.Pro226Leu LB/B rs4148254 - UGT8 Q16880 VAR_052467 p.Ile368Met LB/B rs11098261 - UHMK1 Q8TAS1 VAR_041272 p.Leu159Val LB/B rs34466082 - UHMK1 Q8TAS1 VAR_041273 p.Tyr197Asp LB/B rs56201055 - UHRF1 Q96T88 VAR_022554 p.Asp240His LB/B rs17886098 - UHRF1 Q96T88 VAR_022555 p.Glu379Lys LB/B rs17885791 - UHRF1 Q96T88 VAR_022556 p.Ala638Thr LB/B rs2307209 - UHRF1 Q96T88 VAR_022557 p.Thr642Met LB/B rs17884843 - UHRF1 Q96T88 VAR_022558 p.Leu713Phe LB/B rs17883563 - UHRF2 Q96PU4 VAR_035961 p.Ile87Asn US rs147971931 A colorectal cancer sample UIMC1 Q96RL1 VAR_051469 p.Arg15Trp LB/B rs13167812 - UIMC1 Q96RL1 VAR_051470 p.Pro435Leu LB/B rs3733876 - UIMC1 Q96RL1 VAR_051471 p.Cys511Arg LB/B rs13360277 - UIMC1 Q96RL1 VAR_051472 p.Gly596Glu LB/B rs10475633 - UIMC1 Q96RL1 VAR_055328 p.Met353Thr LB/B rs143282828 - ULBP1 Q9BZM6 VAR_050407 p.Leu101Ile LB/B rs6903584 - ULK1 O75385 VAR_041274 p.Val290Met US rs370624303 An ovarian mucinous carcinoma sample ULK1 O75385 VAR_041275 p.Ser298Leu LB/B rs56364352 - ULK1 O75385 VAR_041276 p.Pro478Leu LB/B rs12827141 - ULK1 O75385 VAR_041277 p.Thr503Met LB/B rs55824543 - ULK1 O75385 VAR_041278 p.Ser665Leu LB/B rs55815560 - ULK1 O75385 VAR_041279 p.Pro714Leu LB/B rs11546871 - ULK1 O75385 VAR_041280 p.Ser784Cys US - A lung adenocarcinoma sample ULK1 O75385 VAR_054892 p.Thr816Ala LB/B rs11609348 - ULK2 Q8IYT8 VAR_041281 p.Pro242Ser LB/B rs34670978 - ULK2 Q8IYT8 VAR_041282 p.Gly627Glu US - A metastatic melanoma sample ULK2 Q8IYT8 VAR_041283 p.Ala662Val US - A metastatic melanoma sample ULK2 Q8IYT8 VAR_041284 p.Gly752Arg LB/B rs55730189 - ULK2 Q8IYT8 VAR_041285 p.Asp842Glu LB/B rs35107651 - ULK2 Q8IYT8 VAR_055287 p.Val370Met LB/B rs150122 - ULK2 Q8IYT8 VAR_055288 p.Thr533Ile LB/B rs4462660 - ULK3 Q6PHR2 VAR_057113 p.Arg101His LB/B rs34945944 - ULK3 Q6PHR2 VAR_059771 p.Lys445Arg LB/B rs12898397 - ULK4 Q96C45 VAR_029005 p.Ala542Thr LB/B rs1052501 - ULK4 Q96C45 VAR_029006 p.Lys569Arg LB/B rs3774372 - ULK4 Q96C45 VAR_029007 p.Leu603Ser LB/B rs17063572 - ULK4 Q96C45 VAR_029008 p.Ser640Ala LB/B rs4973986 - ULK4 Q96C45 VAR_029009 p.Ala715Thr LB/B rs17215589 - ULK4 Q96C45 VAR_041286 p.Val18Ala LB/B rs34538622 - ULK4 Q96C45 VAR_041287 p.Lys39Arg LB/B rs2272007 - ULK4 Q96C45 VAR_041288 p.Asn139Lys LB/B rs35833603 - ULK4 Q96C45 VAR_041289 p.Ser223Asn LB/B rs55840267 - ULK4 Q96C45 VAR_041290 p.Ser348Gly LB/B rs35263917 - ULK4 Q96C45 VAR_041291 p.Thr415Met LB/B rs371185820 - ULK4 Q96C45 VAR_041292 p.Ser417Pro LB/B rs75907560 - ULK4 Q96C45 VAR_051679 p.Ile224Val LB/B rs1716975 - ULK4 Q96C45 VAR_051680 p.Ala1261Val LB/B rs6769117 - ULK4 Q96C45 VAR_059772 p.Ser1260Asn LB/B rs12488691 - UMOD P07911 VAR_017666 p.Gly103Cys LP/P rs28934584 Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_017667 p.Cys148Tyr LP/P rs28934582 Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_017668 p.Cys217Arg LP/P rs28934583 Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_025950 p.Cys77Tyr LP/P rs121917768 Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_025952 p.Cys126Arg LP/P rs121917769 Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_025953 p.Asn128Ser LP/P rs121917770 Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_025954 p.Cys148Trp LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_025955 p.Cys150Ser LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_025956 p.Cys223Tyr LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_025957 p.Thr225Lys LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_025958 p.Cys248Trp LP/P rs886043751 Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_025959 p.Cys255Tyr LP/P rs121917771 Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_025960 p.Cys300Gly LP/P rs121917772 Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_025961 p.Cys315Arg LP/P rs121917773 Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_025962 p.Cys317Tyr LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_061993 p.Val458Leu LB/B rs55772253 - UMOD P07911 VAR_071398 p.Val109Glu LP/P rs780462125 Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_071399 p.Trp230Arg LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_071400 p.Pro236Gln LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_071401 p.Ala461Glu LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073052 p.Cys52Trp LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073053 p.Asp59Ala LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073054 p.Cys112Arg LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073055 p.Cys135Ser LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073056 p.Cys155Arg US - - UMOD P07911 VAR_073057 p.Cys170Tyr LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073058 p.Arg185Ser LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073059 p.Cys195Phe LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073060 p.Trp202Ser LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073061 p.Arg204Gly LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073062 p.Cys217Gly LP/P rs28934583 Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073063 p.Arg222Pro LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073064 p.Thr225Met LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073065 p.Pro236Leu LP/P rs1447458978 Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073066 p.Pro236Arg LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073067 p.Cys282Arg LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073068 p.Gln316Pro LP/P rs1555487318 Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_073069 p.Cys347Gly LP/P - Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMOD P07911 VAR_077514 p.Cys120Gly LP/P rs1555487621 Tubulointerstitial kidney disease, autosomal dominant, 1 (ADTKD1) [MIM:162000] UMODL1 Q5DID0 VAR_025668 p.Val173Ile LB/B rs73371577 - UMODL1 Q5DID0 VAR_025669 p.Asn274Asp LB/B rs17114359 - UMODL1 Q5DID0 VAR_025670 p.Asn274His LB/B rs17114359 - UMODL1 Q5DID0 VAR_025671 p.Arg447Gln LB/B rs146310440 - UMODL1 Q5DID0 VAR_025672 p.Met559Thr LB/B rs220126 - UMODL1 Q5DID0 VAR_025673 p.Ile639Thr LB/B rs220129 - UMODL1 Q5DID0 VAR_025674 p.Thr698Pro LB/B rs220130 - UMODL1 Q5DID0 VAR_025675 p.Val850Ile LB/B rs220146 - UMODL1 Q5DID0 VAR_025676 p.Ser1027Asn LB/B rs150611312 - UMODL1 Q5DID0 VAR_025677 p.Gly1068Ser LB/B rs111996953 - UMODL1 Q5DID0 VAR_025678 p.Glu1115Lys LB/B rs80040922 - UMODL1 Q5DID0 VAR_025679 p.Asp1208Asn LB/B rs220159 - UMODL1 Q5DID0 VAR_025680 p.Asn1309His LB/B rs3819142 - UMODL1-AS1 Q8N2C9 VAR_017941 p.Val98Phe LB/B rs220111 - UMPS P11172 VAR_006807 p.Arg96Gly LP/P rs121917890 Orotic aciduria 1 (ORAC1) [MIM:258900] UMPS P11172 VAR_006808 p.Val109Gly LP/P rs121917892 Orotic aciduria 1 (ORAC1) [MIM:258900] UMPS P11172 VAR_006809 p.Gly213Ala LB/B rs1801019 - UMPS P11172 VAR_006810 p.Gly429Arg LP/P rs121917891 Orotic aciduria 1 (ORAC1) [MIM:258900] UMPS P11172 VAR_020614 p.Ser30Gly LB/B rs17843776 - UMPS P11172 VAR_020615 p.Ile446Val LB/B rs3772809 - UNC119 Q13432 VAR_071184 p.Gly22Val LP/P rs199714731 Immunodeficiency 13 (IMD13) [MIM:615518] UNC13A Q9UPW8 VAR_061872 p.Ala359Thr LB/B rs34752754 - UNC13B O14795 VAR_036615 p.Pro209Ser US - A colorectal cancer sample UNC13B O14795 VAR_037273 p.Asp238Glu LB/B rs35199210 - UNC13B O14795 VAR_037274 p.Glu1232Asp LB/B rs12339582 - UNC13C Q8NB66 VAR_052468 p.Ser942Leu LB/B rs17731958 - UNC13C Q8NB66 VAR_061873 p.Gly609Ser LB/B rs12437941 - UNC13C Q8NB66 VAR_067540 p.Asp304Glu LB/B rs149448818 - UNC13C Q8NB66 VAR_067541 p.Val2196Ala LB/B rs146433220 - UNC13D Q70J99 VAR_029771 p.His858Gln LB/B rs17496835 - UNC13D Q70J99 VAR_029772 p.Lys867Glu LB/B rs1135688 - UNC13D Q70J99 VAR_052469 p.Ala59Thr LB/B rs9904366 - UNC45A Q9H3U1 VAR_052629 p.Thr796Met LB/B rs8041035 - UNC45A Q9H3U1 VAR_086010 p.Arg98Trp US rs369103911 Osteootohepatoenteric syndrome (OOHE) [MIM:619377] UNC45A Q9H3U1 VAR_086012 p.Gly343Val US - Osteootohepatoenteric syndrome (OOHE) [MIM:619377] UNC45A Q9H3U1 VAR_086013 p.Val438Asp US rs1416841683 Osteootohepatoenteric syndrome (OOHE) [MIM:619377] UNC45A Q9H3U1 VAR_086015 p.Ser893Leu US rs376117199 Osteootohepatoenteric syndrome (OOHE) [MIM:619377] UNC45A Q9H3U1 VAR_086016 p.Cys927Gly US - Osteootohepatoenteric syndrome (OOHE) [MIM:619377] UNC45B Q8IWX7 VAR_027506 p.Val60Ile LB/B rs16970659 - UNC45B Q8IWX7 VAR_027507 p.Ile852Asn LB/B rs11654824 - UNC45B Q8IWX7 VAR_035870 p.Asp496His US - A breast cancer sample UNC45B Q8IWX7 VAR_052630 p.Ala199Val LB/B rs35749208 - UNC45B Q8IWX7 VAR_052631 p.Lys377Arg LB/B rs41389545 - UNC45B Q8IWX7 VAR_073375 p.Arg805Trp LP/P rs370424081 Cataract 43 (CTRCT43) [MIM:616279] UNC45B Q8IWX7 VAR_085393 p.Ser403Pro LP/P - Myopathy, myofibrillar, 11 (MFM11) [MIM:619178] UNC45B Q8IWX7 VAR_085394 p.Cys514Arg US rs775340790 Myopathy, myofibrillar, 11 (MFM11) [MIM:619178] UNC45B Q8IWX7 VAR_085395 p.Arg754Gln LP/P - Myopathy, myofibrillar, 11 (MFM11) [MIM:619178] UNC5B Q8IZJ1 VAR_019730 p.Ala516Thr LB/B rs10509332 - UNC5B Q8IZJ1 VAR_052472 p.Ile242Val LB/B rs34957097 - UNC5C O95185 VAR_019731 p.Gly37Val LB/B rs2306715 - UNC5C O95185 VAR_019732 p.Met721Thr LB/B rs2289043 - UNC5C O95185 VAR_055327 p.Ala841Thr LB/B rs34585936 - UNC5C O95185 VAR_081368 p.Thr835Met LP/P rs137875858 Alzheimer disease (AD) [MIM:104300] UNC5CL Q8IV45 VAR_036979 p.Arg432Gly LB/B rs742493 - UNC5D Q6UXZ4 VAR_059848 p.Arg728Lys LB/B rs35487923 - UNC79 Q9P2D8 VAR_038260 p.Val1597Ala LB/B rs28670114 - UNC79 Q9P2D8 VAR_038261 p.Val1670Ile LB/B rs4905081 - UNC79 Q9P2D8 VAR_038262 p.Lys2183Arg LB/B rs2296687 - UNC79 Q9P2D8 VAR_038263 p.Gly2444Ser LB/B rs7359096 - UNC80 Q8N2C7 VAR_033656 p.Arg131Trp LB/B rs35822936 - UNC80 Q8N2C7 VAR_060196 p.Asp1505Gly LB/B rs4673492 - UNC80 Q8N2C7 VAR_075874 p.Val189Met LP/P rs864321623 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2) [MIM:616801] UNC80 Q8N2C7 VAR_075875 p.Pro1700Ser LP/P rs869025316 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2) [MIM:616801] UNC93A Q86WB7 VAR_022650 p.Val292Ile LB/B rs2072767 - UNC93A Q86WB7 VAR_022651 p.Tyr387His LB/B rs663227 - UNC93A Q86WB7 VAR_022652 p.Met403Thr LB/B rs663606 - UNC93A Q86WB7 VAR_022653 p.Val409Ile LB/B rs7739897 - UNC93A Q86WB7 VAR_022654 p.Val445Ala LB/B rs752323292 - UNC93A Q86WB7 VAR_052473 p.Arg6Lys LB/B rs36110805 - UNC93A Q86WB7 VAR_052474 p.Lys128Gln LB/B rs35313366 - UNC93A Q86WB7 VAR_052475 p.Val295Met LB/B rs4708771 - UNC93A Q86WB7 VAR_059849 p.Met403Ile LB/B rs9459921 - UNC93A Q86WB7 VAR_061874 p.Val308Met LB/B rs35854179 - UNC93B1 Q9H1C4 VAR_059850 p.Tyr436Cys LB/B rs3175471 - UNG P13051 VAR_017094 p.Phe251Ser LP/P rs104894380 Immunodeficiency with hyper-IgM 5 (HIGM5) [MIM:608106] UNG P13051 VAR_052697 p.Gln4Arg LB/B rs7488798 - UPB1 Q9UBR1 VAR_026752 p.Ala85Glu LP/P rs34035085 Beta-ureidopropionase deficiency (UPB1D) [MIM:613161] UPB1 Q9UBR1 VAR_050280 p.Ala340Asp LB/B rs34110964 - UPB1 Q9UBR1 VAR_081207 p.Leu13Ser LP/P rs200688546 Beta-ureidopropionase deficiency (UPB1D) [MIM:613161] UPB1 Q9UBR1 VAR_081208 p.Gly235Arg LP/P rs766196011 Beta-ureidopropionase deficiency (UPB1D) [MIM:613161] UPB1 Q9UBR1 VAR_081209 p.Arg236Trp LP/P rs144135211 Beta-ureidopropionase deficiency (UPB1D) [MIM:613161] UPB1 Q9UBR1 VAR_081210 p.Ser264Arg LP/P - Beta-ureidopropionase deficiency (UPB1D) [MIM:613161] UPB1 Q9UBR1 VAR_081211 p.Glu271Lys LP/P rs747454154 Beta-ureidopropionase deficiency (UPB1D) [MIM:613161] UPB1 Q9UBR1 VAR_081212 p.Ile286Thr US rs200034079 Beta-ureidopropionase deficiency (UPB1D) [MIM:613161] UPB1 Q9UBR1 VAR_081213 p.Arg326Gln LP/P rs118163237 Beta-ureidopropionase deficiency (UPB1D) [MIM:613161] UPB1 Q9UBR1 VAR_081214 p.Thr359Met LP/P rs369879221 Beta-ureidopropionase deficiency (UPB1D) [MIM:613161] UPF1 Q92900 VAR_056207 p.Ala69Ser LB/B rs17339451 - UPF2 Q9HAU5 VAR_024345 p.Asn496Ser LB/B rs7079388 - UPF3A Q9H1J1 VAR_062143 p.Arg64Lys LB/B rs3752105 - UPF3B Q9BZI7 VAR_037666 p.Tyr160Asp LP/P rs122468182 Intellectual developmental disorder, X-linked, syndromic 14 (MRXS14) [MIM:300676] UPK1A O00322 VAR_020094 p.Met257Thr LB/B rs2285421 - UPK1A O00322 VAR_052332 p.Ser33Ala LB/B rs2267586 - UPK1B O75841 VAR_028780 p.Gln113Arg LB/B rs9840317 - UPK2 O00526 VAR_051473 p.Ala47Ser LB/B rs3886020 - UPK2 O00526 VAR_062246 p.Thr160Met LB/B rs45530531 - UPK3A O75631 VAR_020158 p.Ala154Pro LB/B rs1057353 - UPK3A O75631 VAR_044399 p.Gln91Leu LB/B rs6006979 - UPK3A O75631 VAR_044400 p.Gly202Asp US rs121918187 - UPK3A O75631 VAR_044401 p.Pro273Leu US rs121918186 - UPK3B Q9BT76 VAR_034561 p.Gln293Arg LB/B rs1636632 - UPK3B Q9BT76 VAR_047805 p.Trp319Arg LB/B rs1799126 - UPP2 O95045 VAR_024431 p.Arg10Ser LB/B rs6710480 - UPP2 O95045 VAR_034580 p.Met78Leu LB/B rs7561584 - UQCC1 Q9NVA1 VAR_028047 p.Arg51Gln LB/B rs4911494 - UQCC1 Q9NVA1 VAR_028048 p.Pro85Leu LB/B rs6088810 - UQCC1 Q9NVA1 VAR_036612 p.Trp44Ser US - A breast cancer sample UQCC3 Q6UW78 VAR_071864 p.Val20Glu LP/P rs606231426 Mitochondrial complex III deficiency, nuclear type 9 (MC3DN9) [MIM:616111] UQCC6 Q69YU5 VAR_062284 p.Arg45Cys LB/B rs2293624 - UQCR10 Q9UDW1 VAR_052444 p.Ile47Val LB/B rs76013375 - UQCRB P14927 VAR_052443 p.Leu30Pro LB/B rs35895613 - UQCRC1 P31930 VAR_013629 p.Asn301Ser LB/B rs144710790 - UQCRC1 P31930 VAR_034581 p.Asp215His LB/B rs17080284 - UQCRC1 P31930 VAR_085428 p.Ile311Leu LP/P - Parkinsonism with polyneuropathy (PKNPY) [MIM:619279] UQCRC1 P31930 VAR_085429 p.Tyr314Ser LP/P - Parkinsonism with polyneuropathy (PKNPY) [MIM:619279] UQCRC2 P22695 VAR_029336 p.Arg148Ser LB/B rs2228473 - UQCRC2 P22695 VAR_034582 p.Arg183Gln LB/B rs4850 - UQCRC2 P22695 VAR_034583 p.Arg254His LB/B rs11863893 - UQCRC2 P22695 VAR_036479 p.Phe208Tyr US - A colorectal cancer sample UQCRC2 P22695 VAR_069709 p.Arg183Trp LP/P rs374661051 Mitochondrial complex III deficiency, nuclear type 5 (MC3DN5) [MIM:615160] UQCRFS1 P47985 VAR_051863 p.Ser6Ala LB/B rs8100724 - UQCRFS1 P47985 VAR_083879 p.Val14Asp LP/P rs1568346416 Mitochondrial complex III deficiency, nuclear type 10 (MC3DN10) [MIM:618775] UQCRH P07919 VAR_034579 p.Glu51Gln LB/B rs34813470 - UQCRQ O14949 VAR_045911 p.Ser45Phe LP/P rs11544803 Mitochondrial complex III deficiency, nuclear type 4 (MC3DN4) [MIM:615159] URAD A6NGE7 VAR_053987 p.Gln57Pro LB/B rs3897926 - URB1 O60287 VAR_059705 p.Pro2071Arg LB/B rs762225 - URB1 O60287 VAR_060586 p.Val1791Leu LB/B rs3761342 - URB2 Q14146 VAR_034031 p.Val778Gly LB/B rs3811473 - URB2 Q14146 VAR_046975 p.Val1400Met LB/B rs12142450 - URGCP Q8TCY9 VAR_043668 p.Met779Leu LB/B rs2232108 - URGCP Q8TCY9 VAR_051479 p.Thr697Ala LB/B rs2232106 - URGCP Q8TCY9 VAR_051480 p.Leu756Phe LB/B rs2232107 - URI1 O94763 VAR_056978 p.Leu22Pro LB/B rs189187 - UROC1 Q96N76 VAR_034000 p.Arg188Trp LB/B rs34488036 - UROC1 Q96N76 VAR_034001 p.Ser311Thr LB/B rs35062810 - UROC1 Q96N76 VAR_042732 p.Arg429Cys LB/B rs9871671 - UROC1 Q96N76 VAR_060221 p.Arg450Cys LP/P rs137852795 Urocanase deficiency (UROCD) [MIM:276880] UROC1 Q96N76 VAR_062649 p.Leu70Pro LP/P rs137852796 Urocanase deficiency (UROCD) [MIM:276880] UROD P06132 VAR_007714 p.Glu167Lys LP/P rs121918058 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007714 p.Glu167Lys LP/P rs121918058 Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_007715 p.Gly281Glu LP/P rs121918057 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007715 p.Gly281Glu LP/P rs121918057 Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_007716 p.Gly281Val LP/P rs121918057 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007717 p.Arg292Gly LP/P rs121918059 Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_007910 p.Ala80Gly LP/P rs776907084 Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_007911 p.Met165Arg LP/P rs121918063 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007912 p.Leu195Phe LP/P rs121918064 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007913 p.Leu253Gln LP/P rs36033115 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007914 p.Asn304Lys LP/P rs121918065 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007915 p.Gly318Arg LP/P rs116233118 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007916 p.Arg332His LP/P rs121918066 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007917 p.Ile334Thr LP/P - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_009103 p.Pro62Leu LP/P rs121918060 Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_009104 p.Val134Gln LP/P - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_009104 p.Val134Gln LP/P - Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_009105 p.His220Pro LP/P - Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_009106 p.Phe229Leu LP/P - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_009107 p.Tyr311Cys LP/P rs121918061 Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_009108 p.Met324Thr LP/P rs763746230 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_010985 p.Arg142Gln LP/P rs1182234844 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_010986 p.Leu161Gln LP/P - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_010987 p.Ser219Phe LP/P rs982293378 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_010988 p.Pro235Ser LP/P rs141312224 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022567 p.Gly25Glu LP/P rs764268015 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022568 p.Phe46Leu LP/P rs769378741 Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_022569 p.Ala80Ser LP/P rs376921379 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022570 p.Arg144Pro LP/P - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022571 p.Gly156Asp LP/P rs762617943 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022572 p.Arg193Pro LP/P rs143823335 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022573 p.Leu216Gln LP/P - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022574 p.Glu218Lys LP/P - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022575 p.Phe232Leu LP/P - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022576 p.Ile260Thr LP/P rs1483459837 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022577 p.Leu282Arg LP/P - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022578 p.Gly303Ser LP/P rs964670864 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_060683 p.Lys15Glu LB/B rs11541959 - UROD P06132 VAR_060684 p.Pro106Leu LB/B rs11541962 - UROD P06132 VAR_060685 p.Arg113Thr LB/B rs11541963 - UROD P06132 VAR_060686 p.Gly303Val LB/B rs17849533 - UROD P06132 VAR_065558 p.Gly168Arg LP/P - Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_065559 p.Gly170Asp LP/P - Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_067457 p.Pro77Leu LB/B rs1131147 - UROS P10746 VAR_003674 p.Leu4Phe LP/P rs121908015 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003675 p.Tyr19Cys LP/P - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003676 p.Pro53Leu LP/P rs121908013 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003677 p.Thr62Ala LP/P rs28941775 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003678 p.Ala66Val LP/P rs28941774 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003679 p.Cys73Arg LP/P rs121908012 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003680 p.Val82Phe LP/P rs121908016 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003681 p.Val99Ala LP/P - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003682 p.Ala104Val LP/P rs397515528 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003683 p.Ser212Pro LP/P rs139388833 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003684 p.Gly225Ser LP/P rs121908020 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003685 p.Thr228Met LP/P rs121908014 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_013558 p.Gly188Arg LP/P rs121908017 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_021615 p.Val3Phe LP/P rs773301339 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_021616 p.Ser47Pro LP/P rs397515527 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_021617 p.Ala69Thr LP/P - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_021618 p.Ile129Thr LP/P - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_021619 p.Gly188Trp LP/P rs121908017 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_021621 p.Ile219Ser LP/P rs767029901 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_049345 p.Lys124Arg LB/B rs17153561 - UROS P10746 VAR_049346 p.Val171Gly LB/B rs17173752 - UROS P10746 VAR_066247 p.Pro248Gln LP/P rs121908021 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_067318 p.Leu237Pro LP/P rs777433697 Congenital erythropoietic porphyria (CEP) [MIM:263700] USB1 Q9BQ65 VAR_030277 p.Gln250Glu LB/B rs16959641 - USB1 Q9BQ65 VAR_053822 p.Arg115Lys LB/B rs35025252 - USE1 Q9NZ43 VAR_021052 p.Leu154Ser LB/B rs414528 - USF3 Q68DE3 VAR_033363 p.Pro222Ala LB/B rs9866806 - USF3 Q68DE3 VAR_033364 p.Ala1966Val LB/B rs2290477 - USF3 Q68DE3 VAR_055949 p.Ala907Glu LB/B rs9852318 - USF3 Q68DE3 VAR_055950 p.Val943Gly LB/B rs6770105 - USF3 Q68DE3 VAR_063263 p.Ala2200Val LB/B rs930818 - USH1C Q9Y6N9 VAR_012320 p.Glu519Asp LB/B rs1064074 - USH1G Q495M9 VAR_023739 p.Leu48Pro LP/P rs104894651 Usher syndrome 1G (USH1G) [MIM:606943] USH1G Q495M9 VAR_060468 p.Asp458Val LP/P rs397517925 Usher syndrome 1G (USH1G) [MIM:606943] USH1G Q495M9 VAR_072369 p.Met104Val LB/B rs149529031 - USH2A O75445 VAR_025760 p.Ala125Thr LB/B rs10779261 - USH2A O75445 VAR_025761 p.Cys163Tyr LP/P - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025762 p.Val218Glu LP/P rs397518026 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025763 p.Val230Met LP/P rs45500891 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025764 p.Cys319Tyr LP/P rs121912599 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025765 p.Arg334Trp LP/P rs397517963 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025766 p.Asn346His LP/P rs369522997 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025767 p.Cys419Phe LP/P rs121912600 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_025767 p.Cys419Phe LP/P rs121912600 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025768 p.Glu478Asp LP/P rs35730265 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_025768 p.Glu478Asp LP/P rs35730265 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025769 p.Cys536Arg LP/P rs111033273 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025770 p.Leu555Val LP/P rs35818432 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025771 p.His610Pro LP/P rs1571668556 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025772 p.Asp644Val LB/B rs1805048 - USH2A O75445 VAR_025773 p.Asp703Glu LB/B rs45555435 - USH2A O75445 VAR_025774 p.Gly713Arg LB/B rs696723 - USH2A O75445 VAR_025775 p.Cys759Phe LP/P rs80338902 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_025775 p.Cys759Phe LP/P rs80338902 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025776 p.Pro761Arg LP/P - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025777 p.Ser841Tyr LB/B rs111033282 - USH2A O75445 VAR_025778 p.Arg1486Lys LB/B rs1805049 - USH2A O75445 VAR_025779 p.Thr1515Met LP/P rs373599651 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025780 p.Arg4115Cys LP/P rs111033275 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_025780 p.Arg4115Cys LP/P rs111033275 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025781 p.Thr4425Met LP/P rs201238640 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_025781 p.Thr4425Met LP/P rs201238640 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_034064 p.Asn3199Asp LB/B rs4129843 - USH2A O75445 VAR_038362 p.Ile1665Thr LB/B rs56222536 - USH2A O75445 VAR_038363 p.Ile2106Thr LB/B rs6657250 - USH2A O75445 VAR_038364 p.Ile2169Thr LB/B rs10864219 - USH2A O75445 VAR_038365 p.Arg2875Gln LB/B rs12118814 - USH2A O75445 VAR_038366 p.Asn3099Ser LB/B rs41277194 - USH2A O75445 VAR_038367 p.Asp3144Asn LB/B rs11120645 - USH2A O75445 VAR_038368 p.Ile3335Met LB/B - - USH2A O75445 VAR_038369 p.Arg4674Gly LP/P rs80338904 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_050087 p.Glu3411Ala LB/B rs10864198 - USH2A O75445 VAR_050088 p.Thr3835Ile LB/B rs11120616 - USH2A O75445 VAR_050089 p.Arg4739Lys LB/B rs12085354 - USH2A O75445 VAR_054557 p.Gly268Arg US rs111033280 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054558 p.Leu280Phe LP/P rs2037760521 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054559 p.Glu284Lys LP/P - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054560 p.Arg303Cys LP/P - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054561 p.Arg303Ser LP/P rs748465849 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054562 p.Ser307Ile US rs1553250805 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054563 p.Arg334Gln LP/P rs758303489 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054564 p.Thr352Ile LP/P rs780308389 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054565 p.Asn357Thr LP/P - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054566 p.Leu365Phe LB/B - - USH2A O75445 VAR_054567 p.Ser391Ile US rs949082769 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054568 p.Arg464Cys US rs1423536179 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054569 p.Phe479Ser LB/B - - USH2A O75445 VAR_054570 p.Gly516Val US rs1415484067 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054571 p.Arg517Thr US rs1393503590 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054572 p.Cys575Ser US - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054574 p.Phe595Ser LB/B rs200496467 - USH2A O75445 VAR_054575 p.Phe739Leu US rs1212098704 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_054576 p.Thr911Asn US rs397518006 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_054577 p.Leu1047Val LB/B rs727503735 - USH2A O75445 VAR_054578 p.Pro1059Leu US rs547581739 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054579 p.Pro1212Leu LP/P - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054580 p.Ser1349Pro LB/B rs761656866 - USH2A O75445 VAR_054581 p.Leu1470Arg US - Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_054582 p.Leu1572Phe LB/B rs111033333 - USH2A O75445 VAR_054583 p.Tyr1757Cys LB/B - - USH2A O75445 VAR_054584 p.Val1833Glu LP/P - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054585 p.Lys2080Asn US rs114402911 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054586 p.Thr2086Asn LB/B rs149202379 - USH2A O75445 VAR_054587 p.Glu2238Ala LP/P rs41277212 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054588 p.Ala2249Asp LP/P - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054590 p.Arg2292His LP/P rs41277210 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054591 p.Arg2354His LP/P rs201386640 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054592 p.Val2562Ala LP/P rs56385601 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054593 p.Ala2795Ser LP/P - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054594 p.Leu2886Phe LB/B rs41277200 - USH2A O75445 VAR_054595 p.Glu3088Lys LB/B rs56056328 - USH2A O75445 VAR_054596 p.Thr3115Ala LB/B rs56032526 - USH2A O75445 VAR_054597 p.Arg3124Gly US rs1453306308 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054598 p.Cys3251Arg LP/P rs527236118 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054599 p.Cys3267Arg LP/P rs111033263 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054600 p.Cys3282Arg LP/P - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054602 p.Pro3504Thr LP/P - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054603 p.Trp3521Arg LP/P rs111033264 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054604 p.Thr3571Met LP/P rs202175091 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054605 p.Pro3590Leu LB/B rs115403785 - USH2A O75445 VAR_054606 p.Met3868Val LB/B rs35309576 - USH2A O75445 VAR_054607 p.Pro3893Thr LB/B rs41303285 - USH2A O75445 VAR_054608 p.Gly3895Glu LP/P rs1472714005 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054609 p.Thr3976Met LP/P rs142381713 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054610 p.Ser4054Ile LP/P rs1571953381 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054611 p.Pro4232Arg LP/P rs745371873 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054612 p.Thr4337Met LP/P rs527236137 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054613 p.Val4433Leu LP/P rs111033381 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054614 p.Thr4439Ile LP/P rs753330544 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054615 p.Tyr4487Cys LP/P rs768893227 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054616 p.Gln4592His LP/P rs1350039852 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054617 p.Phe4624Val LB/B rs1369860869 - USH2A O75445 VAR_054618 p.Leu4795Arg LP/P rs199851839 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054619 p.Pro4818Leu LP/P rs143344549 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054620 p.Arg5031Trp LB/B rs56038610 - USH2A O75445 VAR_061350 p.Val2820Ile LB/B rs59174500 - USH2A O75445 VAR_061351 p.Gly4692Arg LP/P rs45549044 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_061352 p.Gly4838Glu LB/B rs41315587 - USH2A O75445 VAR_064761 p.Thr453Ile US - - USH2A O75445 VAR_066665 p.Gln4203Arg LB/B rs148556640 - USH2A O75445 VAR_068354 p.Phe1859Cys LP/P - Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_068355 p.Arg2460His LP/P rs368681648 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_068356 p.Cys3358Tyr LP/P rs148660051 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_068357 p.Ser3669Arg LP/P - Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_068358 p.Arg4192His US rs199605265 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_071996 p.Gly44Arg LP/P rs1381795491 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_071997 p.Ser180Pro LP/P rs1171672823 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_071998 p.Val382Met LP/P rs750651679 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_071999 p.Cys691Tyr LP/P - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072000 p.Cys934Trp LP/P rs201527662 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072002 p.Phe1442Ser LP/P rs766108245 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072003 p.Gly1734Arg LP/P - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072004 p.Arg1777Trp LP/P rs770329105 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072005 p.Pro1836Thr US - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072006 p.Gly1840Val LP/P rs1571941511 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072007 p.Pro1843Leu LP/P rs200209833 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072008 p.Gly1861Ser LP/P rs375668376 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072009 p.Ala1953Gly US rs41302239 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072010 p.Pro1978Ser US rs75698489 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072011 p.His2116Arg US rs111033450 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072012 p.Cys2128Phe US - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072013 p.Cys2128Tyr US - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072014 p.Ser2196Thr LP/P rs79444516 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072015 p.Asp2237Tyr US rs1177455978 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072016 p.Ser2260Pro US - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072017 p.Asn2377Ser LB/B rs111033394 - USH2A O75445 VAR_072018 p.Asn2394Lys LB/B - - USH2A O75445 VAR_072019 p.Arg2573His US rs189748047 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072020 p.Ser2639Pro US rs398124620 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072021 p.Asp2738Asn LP/P rs750687826 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072022 p.Trp2744Cys LP/P rs1424639717 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072023 p.Gly2752Arg LP/P rs201863550 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072024 p.Phe2786Ser US rs111033262 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072025 p.Asn2930Lys US rs754774098 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072027 p.Ser3384Tyr US rs553202000 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072028 p.Glu3448Lys US rs368049814 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072029 p.Thr3462Ile US rs1416602859 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072030 p.Trp3479Cys US rs1308924086 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072031 p.Asp3515Gly LP/P rs527236119 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072032 p.Gly3529Ser US rs111033439 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072033 p.Gly3546Arg LP/P rs1553261372 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072034 p.Leu3606Pro US rs1402464909 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072035 p.Gly3618Ser US rs778158900 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072036 p.Arg3719His US rs527236139 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072037 p.Tyr3747Cys LP/P - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072038 p.Ile3844Met US rs765306173 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072039 p.Asn3894Asp LP/P - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072040 p.Arg3904Lys US rs182741276 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072041 p.Asn4094Lys US - Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072042 p.Ser4174Arg US rs754560357 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072043 p.His4248Asn US rs372137776 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072044 p.Pro4269Arg US rs1553252475 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072046 p.Met4447Val US rs139474806 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072047 p.Arg4493His LB/B rs138879998 - USH2A O75445 VAR_072048 p.Arg4570His US rs730254 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072049 p.Ala4611Val LB/B rs376077079 - USH2A O75445 VAR_072050 p.Gly4616Val LB/B rs527236124 - USH2A O75445 VAR_072051 p.Gln4662Glu US rs41302237 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072052 p.Gly4763Arg US rs397517990 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072053 p.Ala4778Asp LB/B rs113447586 - USH2A O75445 VAR_072054 p.Cys4808Arg US - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072055 p.Gly4817Arg US - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072056 p.Leu4840Pro US rs143275144 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072057 p.Thr4844Met US rs200570742 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072058 p.Arg4848Gln LB/B rs77211159 - USH2A O75445 VAR_072059 p.Ser4881Thr LB/B rs200949691 - USH2A O75445 VAR_072060 p.Thr4918Met US rs56136489 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072061 p.Glu4921Lys LB/B rs754834155 - USH2A O75445 VAR_072062 p.Lys5026Glu LB/B rs41308435 - USH2A O75445 VAR_072063 p.Leu5063Arg LP/P - Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072064 p.Arg5143Cys LP/P rs145771342 Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_072065 p.Arg5143His LP/P rs111033435 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072066 p.Val5145Ile US rs111033269 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_072067 p.Ser5188Gly LP/P rs58257972 Retinitis pigmentosa 39 (RP39) [MIM:613809] USH2A O75445 VAR_075587 p.Ile4386Phe US - Usher syndrome 2A (USH2A) [MIM:276901] USH2A O75445 VAR_079508 p.Pro2811Thr US rs111033529 - USH2A O75445 VAR_079509 p.Pro3504Ala US rs200372118 - USH2A O75445 VAR_079877 p.Pro1684Leu US rs771088957 - USHBP1 Q8N6Y0 VAR_027753 p.Met439Val LB/B rs9676419 - USHBP1 Q8N6Y0 VAR_027754 p.Val525Met LB/B rs12459398 - USHBP1 Q8N6Y0 VAR_051481 p.Ala677Val LB/B rs1043963 - USP10 Q14694 VAR_015859 p.Met200Val LB/B rs1862792 - USP10 Q14694 VAR_015860 p.Ser203Pro LB/B rs2326391 - USP10 Q14694 VAR_015861 p.Val204Leu LB/B rs1812061 - USP16 Q9Y5T5 VAR_020388 p.Gln141His LB/B rs2274802 - USP17L2 Q6R6M4 VAR_059750 p.Lys438Arg LB/B rs12543578 - USP17L7 P0C7H9 VAR_051526 p.Ala161Gly LB/B rs17815120 - USP17L7 P0C7H9 VAR_051527 p.Pro494Leu LB/B rs9694759 - USP18 Q9UMW8 VAR_024589 p.Thr169Met LB/B rs3180408 - USP19 O94966 VAR_051528 p.Asp36His LB/B rs11552724 - USP2 O75604 VAR_051519 p.Arg174Gln LB/B rs33929148 - USP2 O75604 VAR_051520 p.Asn383Ser LB/B rs45533837 - USP20 Q9Y2K6 VAR_051529 p.Ser103Tyr LB/B rs36086252 - USP20 Q9Y2K6 VAR_051530 p.Val444Ile LB/B rs36055332 - USP21 Q9UK80 VAR_051531 p.Pro91Ser LB/B rs34779722 - USP21 Q9UK80 VAR_051532 p.Gly321Asp LB/B rs17356051 - USP21 Q9UK80 VAR_051533 p.Pro336Thr LB/B rs1127525 - USP24 Q9UPU5 VAR_047154 p.Thr226Ile LB/B rs1165222 - USP24 Q9UPU5 VAR_047155 p.Gly1940Ser LB/B rs2274540 - USP24 Q9UPU5 VAR_047156 p.Tyr2134Ser LB/B rs12753590 - USP24 Q9UPU5 VAR_047157 p.Val2468Ala LB/B rs487230 - USP26 Q9BXU7 VAR_063414 p.Leu165Ser LB/B rs61741870 - USP26 Q9BXU7 VAR_063415 p.Leu364Phe LB/B rs35397110 - USP26 Q9BXU7 VAR_063416 p.His475Tyr LB/B rs41299088 - USP26 Q9BXU7 VAR_063417 p.Leu517Phe LB/B rs1323347016 - USP26 Q9BXU7 VAR_063418 p.Met579Ile LB/B rs138385391 - USP26 Q9BXU7 VAR_088309 p.Asn799Ser US - Spermatogenic failure, X-linked, 6 (SPGFX6) [MIM:301101] USP26 Q9BXU7 VAR_088310 p.Arg825Gly US - Spermatogenic failure, X-linked, 6 (SPGFX6) [MIM:301101] USP27X A6NNY8 VAR_077830 p.Tyr381His LP/P rs886038211 Intellectual developmental disorder, X-linked 105 (XLID105) [MIM:300984] USP29 Q9HBJ7 VAR_022055 p.Glu586Lys LB/B rs3795003 - USP29 Q9HBJ7 VAR_024590 p.Asn368Ser LB/B rs1027392 - USP3 Q9Y6I4 VAR_051521 p.Pro360Thr LB/B rs34776764 - USP30 Q70CQ3 VAR_059751 p.His357Arg LB/B rs16939904 - USP31 Q70CQ4 VAR_027422 p.Asp445Tyr LB/B rs1978066 - USP31 Q70CQ4 VAR_027423 p.Gln532His LB/B rs4597335 - USP31 Q70CQ4 VAR_027424 p.Ile538Thr LB/B rs13339649 - USP31 Q70CQ4 VAR_027425 p.Ala552Thr LB/B rs9932912 - USP31 Q70CQ4 VAR_027426 p.Arg931Leu LB/B rs10083789 - USP31 Q70CQ4 VAR_051534 p.Asp1269Asn LB/B rs35541113 - USP31 Q70CQ4 VAR_051535 p.Arg1309Cys LB/B rs35254998 - USP32 Q8NFA0 VAR_051536 p.His76Tyr LB/B rs7208980 - USP32 Q8NFA0 VAR_051537 p.Ala1469Gly LB/B rs3207630 - USP32 Q8NFA0 VAR_051538 p.Gly1568Arg LB/B rs1053621 - USP32 Q8NFA0 VAR_051539 p.Thr1578Ile LB/B rs1053625 - USP34 Q70CQ2 VAR_047106 p.Met661Thr LB/B rs6722430 - USP34 Q70CQ2 VAR_047107 p.Leu1663Arg LB/B rs6723818 - USP34 Q70CQ2 VAR_047108 p.Asp2348Asn LB/B rs4386306 - USP35 Q9P2H5 VAR_057042 p.Val236Met LB/B rs2510044 - USP36 Q9P275 VAR_037277 p.Val271Ile LB/B rs3744793 - USP36 Q9P275 VAR_037278 p.Ile489Met LB/B rs3744795 - USP36 Q9P275 VAR_037279 p.Arg775Gln LB/B rs9889908 - USP36 Q9P275 VAR_037280 p.Gln806Arg LB/B rs3088040 - USP36 Q9P275 VAR_037281 p.Lys814Asn LB/B rs3744797 - USP36 Q9P275 VAR_037282 p.Arg828Cys LB/B rs1057040 - USP36 Q9P275 VAR_058034 p.Arg887Pro LB/B rs61760231 - USP37 Q86T82 VAR_059752 p.Leu979Ser LB/B rs6436058 - USP4 Q13107 VAR_028180 p.Tyr620Cys LB/B rs9311440 - USP40 Q9NVE5 VAR_017123 p.Val666Ala LB/B rs838543 - USP40 Q9NVE5 VAR_017124 p.Arg1111Cys LB/B rs1048603 - USP40 Q9NVE5 VAR_059753 p.Thr1025Met LB/B rs34026756 - USP42 Q9H9J4 VAR_059754 p.Leu1030Pro LB/B rs6463529 - USP44 Q9H0E7 VAR_017125 p.Thr91Ala LB/B rs3812813 - USP44 Q9H0E7 VAR_057043 p.Glu316Gln LB/B rs7305024 - USP44 Q9H0E7 VAR_057044 p.Arg348Gly LB/B rs7135642 - USP45 Q70EL2 VAR_031167 p.Lys67Glu LB/B rs7744845 - USP45 Q70EL2 VAR_031168 p.Asn778Ser LB/B rs6570065 - USP45 Q70EL2 VAR_060663 p.Arg521Thr LB/B rs41288947 - USP45 Q70EL2 VAR_083031 p.Arg312Gln US - Leber congenital amaurosis 19 (LCA19) [MIM:618513] USP46 P62068 VAR_051540 p.Ala81Val LB/B rs17475800 - USP47 Q96K76 VAR_022787 p.Gly163Val LB/B rs11022079 - USP48 Q86UV5 VAR_027427 p.Ser125Cys LB/B rs4253886 - USP48 Q86UV5 VAR_027428 p.Glu135Lys LB/B rs12097805 - USP48 Q86UV5 VAR_087940 p.Gly406Arg US - Deafness, autosomal dominant, 85 (DFNA85) [MIM:620227] USP48 Q86UV5 VAR_087941 p.Thr739Leu US - Deafness, autosomal dominant, 85 (DFNA85) [MIM:620227] USP53 Q70EK8 VAR_051541 p.Ser962Arg LB/B rs3749591 - USP53 Q70EK8 VAR_086694 p.Arg99Ser LP/P - Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss (PFIC7) [MIM:619658] USP53 Q70EK8 VAR_086695 p.His132Arg LP/P - Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss (PFIC7) [MIM:619658] USP53 Q70EK8 VAR_086696 p.Pro242Leu US - Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss (PFIC7) [MIM:619658] USP53 Q70EK8 VAR_086697 p.Gly293Val LP/P - Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss (PFIC7) [MIM:619658] USP54 Q70EL1 VAR_036360 p.Leu505Val US - A breast cancer sample USP54 Q70EL1 VAR_047258 p.Lys976Glu LB/B rs1618542 - USP54 Q70EL1 VAR_047259 p.Asp1231Asn LB/B rs4619071 - USP54 Q70EL1 VAR_047260 p.Gly1367Asp LB/B rs7083344 - USP6 P35125 VAR_051522 p.Trp475Arg LB/B rs8073787 - USP6 P35125 VAR_051523 p.Arg912Gln LB/B rs9899177 - USP6 P35125 VAR_059749 p.Val525Ile LB/B rs2304449 - USP7 Q93009 VAR_086826 p.Met225Ile LP/P rs1555465642 Hao-Fountain syndrome (HAFOUS) [MIM:616863] USP7 Q93009 VAR_086827 p.Glu345Lys LP/P - Hao-Fountain syndrome (HAFOUS) [MIM:616863] USP7 Q93009 VAR_086828 p.Leu373Phe LP/P - Hao-Fountain syndrome (HAFOUS) [MIM:616863] USP7 Q93009 VAR_086829 p.Gly392Asp LP/P - Hao-Fountain syndrome (HAFOUS) [MIM:616863] USP7 Q93009 VAR_086830 p.Val485Gly LP/P - Hao-Fountain syndrome (HAFOUS) [MIM:616863] USP7 Q93009 VAR_086832 p.Leu757Pro US - Hao-Fountain syndrome (HAFOUS) [MIM:616863] USP7 Q93009 VAR_086833 p.Ile766Thr LP/P - Hao-Fountain syndrome (HAFOUS) [MIM:616863] USP7 Q93009 VAR_086834 p.Asp1080Asn LP/P - Hao-Fountain syndrome (HAFOUS) [MIM:616863] USP8 P40818 VAR_017796 p.Asp443Gly LB/B rs3743044 - USP8 P40818 VAR_017797 p.Ala827Gly LB/B rs1056577 - USP8 P40818 VAR_051525 p.Thr739Ala LB/B rs11638390 - USP8 P40818 VAR_077850 p.Gln310Lys US rs587777201 - USP8 P40818 VAR_079718 p.Ser718Cys US rs672601308 Pituitary adenoma 4, ACTH-secreting (PITA4) [MIM:219090] USP8 P40818 VAR_079719 p.Ser718Pro US rs672601307 Pituitary adenoma 4, ACTH-secreting (PITA4) [MIM:219090] USP8 P40818 VAR_079721 p.Pro720Arg US rs672601311 Pituitary adenoma 4, ACTH-secreting (PITA4) [MIM:219090] USP9X Q93008 VAR_071131 p.Leu2093His US rs587777317 Intellectual developmental disorder, X-linked 99 (XLID99) [MIM:300919] USP9X Q93008 VAR_071132 p.Leu2157Ile US rs587777319 Intellectual developmental disorder, X-linked 99 (XLID99) [MIM:300919] USP9X Q93008 VAR_086081 p.Leu1693Trp LP/P - Intellectual developmental disorder, X-linked 99, syndromic, female-restricted (MRXS99F) [MIM:300968] USP9Y O00507 VAR_016194 p.Ala1060Thr LB/B rs20320 - USP9Y O00507 VAR_029328 p.Pro1035Ser LB/B rs20319 - USP9Y O00507 VAR_055350 p.Glu65Asp LB/B rs7067496 - USP9Y O00507 VAR_055351 p.Arg211Cys LB/B rs2032596 - USP9Y O00507 VAR_055352 p.Ala1705Ser LB/B rs2032606 - USPL1 Q5W0Q7 VAR_030916 p.Glu173Gly LB/B rs17853512 - USPL1 Q5W0Q7 VAR_030917 p.Pro384Ser LB/B rs3742303 - USPL1 Q5W0Q7 VAR_030918 p.Ala522Pro LB/B rs17609459 - USPL1 Q5W0Q7 VAR_030919 p.Leu531Ser LB/B rs7984952 - USPL1 Q5W0Q7 VAR_030920 p.Ser739Cys LB/B rs9578190 - USPL1 Q5W0Q7 VAR_030921 p.Ser950Asn LB/B rs3742302 - USPL1 Q5W0Q7 VAR_030922 p.Thr1043Ser LB/B rs17857086 - USPL1 Q5W0Q7 VAR_051542 p.Ile583Val LB/B rs41412648 - USPL1 Q5W0Q7 VAR_051543 p.Leu786Ile LB/B rs35371042 - UST Q9Y2C2 VAR_059819 p.Met21Leu LB/B rs9498146 - UTF1 Q5T230 VAR_051485 p.Gly73Arg LB/B rs11599284 - UTP14A Q9BVJ6 VAR_022811 p.Val487Ala LB/B rs2281278 - UTP14A Q9BVJ6 VAR_069181 p.Asp771Gly LB/B rs1055032 - UTP14C Q5TAP6 VAR_022812 p.Gly85Val LB/B rs3742289 - UTP14C Q5TAP6 VAR_022813 p.Thr101Ala LB/B rs3742290 - UTP14C Q5TAP6 VAR_051482 p.Arg319His LB/B rs17402034 - UTP15 Q8TED0 VAR_057621 p.Tyr228His LB/B rs16870608 - UTP15 Q8TED0 VAR_057622 p.Arg332Ser LB/B rs35313343 - UTP15 Q8TED0 VAR_057623 p.Thr483Pro LB/B rs35898225 - UTP20 O75691 VAR_022162 p.Ser502Cys LB/B rs4764643 - UTP20 O75691 VAR_022163 p.Glu2612Gln LB/B rs1061436 - UTP20 O75691 VAR_036274 p.Lys1645Ile US rs140657361 A breast cancer sample UTP20 O75691 VAR_036275 p.Ile2452Phe US - A breast cancer sample UTP20 O75691 VAR_055135 p.Met120Thr LB/B rs2290723 - UTP20 O75691 VAR_055136 p.Leu1882Gln LB/B rs10082778 - UTP23 Q9BRU9 VAR_032031 p.His170Arg LB/B rs16888722 - UTP23 Q9BRU9 VAR_032032 p.Lys195Gln LB/B rs1133950 - UTP23 Q9BRU9 VAR_032033 p.Pro215Leu LB/B rs16888728 - UTP25 Q68CQ4 VAR_028827 p.Gln67Glu LB/B rs585627 - UTP25 Q68CQ4 VAR_084648 p.Gly111Asp LB/B rs61747285 - UTP3 Q9NQZ2 VAR_051897 p.Thr23Met LB/B rs16845385 - UTP4 Q969X6 VAR_017445 p.Arg565Trp US rs119465999 - UTP4 Q969X6 VAR_053388 p.Arg438His LB/B rs8056684 - UTP6 Q9NYH9 VAR_026668 p.Gln69Arg LB/B rs3760454 - UTP6 Q9NYH9 VAR_031222 p.Lys35Arg LB/B rs16967042 - UTP6 Q9NYH9 VAR_049322 p.Leu134Val LB/B rs34859443 - UTRN P46939 VAR_047794 p.Leu1880Ile LB/B rs12204715 - UTRN P46939 VAR_047795 p.Ala1974Thr LB/B rs12204734 - UTRN P46939 VAR_047796 p.Gly2060Asp LB/B rs35676466 - UTRN P46939 VAR_047797 p.Asn2202Ser LB/B rs1534443 - UTS2 O95399 VAR_029313 p.Ser74Asn LB/B rs2890565 - UTS2 O95399 VAR_053734 p.Ile12Thr LB/B rs34305100 - UTS2B Q765I0 VAR_044517 p.Ser21Ile LB/B rs6788319 - UTS2R Q9UKP6 VAR_035768 p.Ser146Arg US rs770047242 A breast cancer sample UTS2R Q9UKP6 VAR_049451 p.Ala70Pro LB/B rs34442190 - UVRAG Q9P2Y5 VAR_059737 p.Pro10His LB/B rs7118567 - UVSSA Q2YD98 VAR_038499 p.Arg391His LB/B rs2276904 - UVSSA Q2YD98 VAR_038500 p.Pro620Leu LB/B rs28522910 - UVSSA Q2YD98 VAR_067798 p.Cys32Arg LP/P rs387907164 UV-sensitive syndrome 3 (UVSS3) [MIM:614640] VAC14 Q08AM6 VAR_077031 p.Trp424Leu LP/P rs762388639 Striatonigral degeneration, childhood-onset (SNDC) [MIM:617054] VAC14 Q08AM6 VAR_077032 p.Ala582Ser LP/P rs749094914 Striatonigral degeneration, childhood-onset (SNDC) [MIM:617054] VAC14 Q08AM6 VAR_077033 p.Ser583Leu LP/P rs879255645 Striatonigral degeneration, childhood-onset (SNDC) [MIM:617054] VAMP1 P23763 VAR_082265 p.Arg49Pro US rs754046104 Myasthenic syndrome, congenital, 25, presynaptic (CMS25) [MIM:618323] VAMP2 P63027 VAR_083586 p.Ser75Pro LP/P rs1598265387 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements (NEDHAHM) [MIM:618760] VAMP2 P63027 VAR_083587 p.Phe77Ser LP/P rs1598265384 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements (NEDHAHM) [MIM:618760] VAMP2 P63027 VAR_083588 p.Glu78Ala LP/P rs1598265382 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements (NEDHAHM) [MIM:618760] VANGL1 Q8TAA9 VAR_027143 p.Ala116Thr LB/B rs4839469 - VANGL1 Q8TAA9 VAR_035209 p.Val239Ile LP/P rs121918218 Sacral defect with anterior meningocele (SDAM) [MIM:600145] VANGL1 Q8TAA9 VAR_035210 p.Arg274Gln LP/P rs121918219 Neural tube defects (NTD) [MIM:182940] VANGL1 Q8TAA9 VAR_035211 p.Met328Thr LP/P rs121918220 Neural tube defects (NTD) [MIM:182940] VANGL1 Q8TAA9 VAR_035435 p.Glu347Ala LB/B rs34059106 - VANGL1 Q8TAA9 VAR_062321 p.Glu25Lys LB/B rs61734296 - VANGL1 Q8TAA9 VAR_062322 p.Ser83Leu US rs146695372 Neural tube defects (NTD) [MIM:182940] VANGL1 Q8TAA9 VAR_062323 p.Phe153Ser US - Neural tube defects (NTD) [MIM:182940] VANGL1 Q8TAA9 VAR_062324 p.Arg175Gln LB/B rs201441696 - VANGL1 Q8TAA9 VAR_062325 p.Arg181Gln US rs761123443 Neural tube defects (NTD) [MIM:182940] VANGL1 Q8TAA9 VAR_062326 p.Leu202Phe US - Neural tube defects (NTD) [MIM:182940] VANGL1 Q8TAA9 VAR_062327 p.Thr251Met LB/B rs201630629 - VANGL1 Q8TAA9 VAR_062328 p.Tyr290His LB/B rs145309218 - VANGL1 Q8TAA9 VAR_062329 p.Ala404Ser US rs775571796 Neural tube defects (NTD) [MIM:182940] VANGL1 Q8TAA9 VAR_062330 p.Asp468Glu LB/B - - VANGL2 Q9ULK5 VAR_067221 p.Ser84Phe LP/P rs1571244916 Neural tube defects (NTD) [MIM:182940] VANGL2 Q9ULK5 VAR_067222 p.Arg353Cys LP/P rs267607167 Neural tube defects (NTD) [MIM:182940] VANGL2 Q9ULK5 VAR_067223 p.Phe437Ser LP/P rs267607168 Neural tube defects (NTD) [MIM:182940] VAPA Q9P0L0 VAR_050440 p.Met8Thr LB/B rs1044163 - VAPA Q9P0L0 VAR_050441 p.Pro104Leu LB/B rs1127666 - VAPB O95292 VAR_026743 p.Pro56Ser LP/P rs74315431 Amyotrophic lateral sclerosis 8 (ALS8) [MIM:608627] VAPB O95292 VAR_026743 p.Pro56Ser LP/P rs74315431 Spinal muscular atrophy, proximal, adult, autosomal dominant (SMAPAD) [MIM:182980] VAPB O95292 VAR_067964 p.Thr46Ile LP/P rs281875284 Amyotrophic lateral sclerosis 8 (ALS8) [MIM:608627] VARS1 P26640 VAR_052647 p.Pro51Arg LB/B rs2607015 - VARS1 P26640 VAR_052648 p.Arg181Cys LB/B rs35196751 - VARS1 P26640 VAR_052649 p.Pro626Ser LB/B rs11531 - VARS1 P26640 VAR_052650 p.Pro1008Leu LB/B rs1076827 - VARS1 P26640 VAR_061909 p.Pro51Thr LB/B rs2753960 - VARS1 P26640 VAR_080602 p.Leu885Phe US rs1060499734 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA) [MIM:617802] VARS1 P26640 VAR_080603 p.Arg1058Gln US rs769369302 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA) [MIM:617802] VARS2 Q5ST30 VAR_043730 p.Gly64Arg LB/B rs6926723 - VARS2 Q5ST30 VAR_043731 p.Trp449Arg LB/B rs2249464 - VARS2 Q5ST30 VAR_043732 p.Val680Leu LB/B rs2074506 - VARS2 Q5ST30 VAR_043733 p.Arg917Gln LB/B rs9394021 - VARS2 Q5ST30 VAR_043734 p.Ala965Thr LB/B rs2252863 - VARS2 Q5ST30 VAR_043735 p.Arg1049Gln LB/B rs4678 - VARS2 Q5ST30 VAR_052651 p.His26Tyr LB/B rs6926224 - VARS2 Q5ST30 VAR_061910 p.Val765Met LB/B rs55865499 - VARS2 Q5ST30 VAR_071850 p.Thr337Ile LP/P rs587777585 Combined oxidative phosphorylation deficiency 20 (COXPD20) [MIM:615917] VARS2 Q5ST30 VAR_071851 p.Ala349Thr LP/P rs587777583 Combined oxidative phosphorylation deficiency 20 (COXPD20) [MIM:615917] VARS2 Q5ST30 VAR_071852 p.Ala596Asp LP/P rs587777584 Combined oxidative phosphorylation deficiency 20 (COXPD20) [MIM:615917] VASN Q6EMK4 VAR_025991 p.Glu384Ala LB/B rs3810818 - VASP P50552 VAR_048929 p.Ala104Thr LB/B rs10415373 - VASP P50552 VAR_048930 p.Gln140His LB/B rs34345197 - VAV1 P15498 VAR_051997 p.Thr739Met LB/B rs36097961 - VAV2 P52735 VAR_045690 p.Met594Val LB/B rs602990 - VAV3 Q9UKW4 VAR_033522 p.Thr298Ser LB/B rs7528153 - VAV3 Q9UKW4 VAR_033523 p.Gln618His LB/B rs12403266 - VAV3 Q9UKW4 VAR_051998 p.Pro616Ser LB/B rs12410676 - VAV3 Q9UKW4 VAR_061800 p.Asp139Asn LB/B rs34318889 - VAX1 Q5SQQ9 VAR_067307 p.Arg152Ser LP/P rs387907252 Microphthalmia, syndromic, 11 (MCOPS11) [MIM:614402] VAX2 Q9UIW0 VAR_020152 p.Pro254Arg LB/B rs2234500 - VAX2 Q9UIW0 VAR_067308 p.Arg24Gly LB/B rs2234496 - VBP1 P61758 VAR_023371 p.Val123Met LB/B rs572013 - VCAM1 P19320 VAR_014309 p.Ser318Phe LB/B rs3783611 - VCAM1 P19320 VAR_014310 p.Thr384Ala LB/B rs3783612 - VCAM1 P19320 VAR_014311 p.Gly413Ala LB/B rs3783613 - VCAM1 P19320 VAR_014312 p.Ile716Leu LB/B rs3783615 - VCAM1 P19320 VAR_049951 p.Met18Ile LB/B rs34228330 - VCAM1 P19320 VAR_049952 p.Val421Ile LB/B rs34100871 - VCAM1 P19320 VAR_049953 p.His488Arg LB/B rs34199378 - VCAN P13611 VAR_020214 p.Gly428Asp LB/B rs2287926 - VCAN P13611 VAR_020215 p.Phe2301Tyr LB/B rs160278 - VCAN P13611 VAR_020216 p.Val2315Leu LB/B rs3734094 - VCAN P13611 VAR_021958 p.Ser300Leu LB/B rs2652098 - VCAN P13611 VAR_021959 p.Lys1516Arg LB/B rs309559 - VCAN P13611 VAR_021960 p.Asp2937Tyr LB/B rs160277 - VCAN P13611 VAR_031632 p.Arg1826His LB/B rs188703 - VCAN P13611 VAR_031633 p.Asn3011Lys LB/B rs16900532 - VCF2 Q5XKR9 VAR_055796 p.Ser60Gly LB/B rs1047037 - VCL P18206 VAR_035101 p.Leu277Met LP/P rs71579353 Cardiomyopathy, familial hypertrophic, 15 (CMH15) [MIM:613255] VCL P18206 VAR_035102 p.Ala934Val LB/B rs16931179 - VCL P18206 VAR_035103 p.Pro943Ala LB/B rs71579375 - VCL P18206 VAR_035105 p.Arg975Trp LP/P rs121917776 Cardiomyopathy, dilated, 1W (CMD1W) [MIM:611407] VCL P18206 VAR_037667 p.Val234Leu LB/B rs17853882 - VCP P55072 VAR_033016 p.Arg95Gly LP/P rs121909332 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP P55072 VAR_033017 p.Arg155Cys LP/P rs121909330 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP P55072 VAR_033018 p.Arg155His LP/P rs121909329 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6) [MIM:613954] VCP P55072 VAR_033018 p.Arg155His LP/P rs121909329 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP P55072 VAR_033019 p.Arg155Pro LP/P rs121909329 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP P55072 VAR_033020 p.Arg159His LP/P rs121909335 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP P55072 VAR_033021 p.Arg191Gln LP/P rs121909334 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6) [MIM:613954] VCP P55072 VAR_033021 p.Arg191Gln LP/P rs121909334 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP P55072 VAR_033022 p.Ala232Glu LP/P rs121909331 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP P55072 VAR_065910 p.Arg159Gly LP/P rs387906789 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6) [MIM:613954] VCP P55072 VAR_065911 p.Asp592Asn LP/P rs387906790 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6) [MIM:613954] VCP P55072 VAR_076464 p.Gly97Glu LP/P rs864309502 Charcot-Marie-Tooth disease, axonal, 2Y (CMT2Y) [MIM:616687] VCP P55072 VAR_076465 p.Ile126Phe US - Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP P55072 VAR_076466 p.Arg155Ser LP/P rs121909330 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP P55072 VAR_076467 p.Glu185Lys LP/P rs864309501 Charcot-Marie-Tooth disease, axonal, 2Y (CMT2Y) [MIM:616687] VCP P55072 VAR_076468 p.Leu198Trp LP/P rs748447593 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP P55072 VAR_078910 p.Arg155Leu LP/P rs121909329 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP P55072 VAR_078911 p.Asn387His US rs1554668420 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP P55072 VAR_088265 p.Ala160Thr US - Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP P55072 VAR_088266 p.Ile254Phe US - Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP P55072 VAR_088267 p.Ile369Thr US rs1828723406 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCPKMT Q9H867 VAR_059621 p.Ala63Asp LB/B rs11157729 - VCX Q9H320 VAR_070431 p.Ala70Gly LB/B rs6639946 - VCX Q9H320 VAR_070432 p.Pro194Leu LB/B rs78342118 - VCX2 Q9H322 VAR_047772 p.Ala70Gly LB/B rs41309545 - VCX2 Q9H322 VAR_047773 p.Leu104Pro LB/B rs41305169 - VCX2 Q9H322 VAR_047774 p.Val110Leu LB/B rs1058237 - VCX2 Q9H322 VAR_047775 p.Thr138Ser LB/B rs1058239 - VCX3B Q9H321 VAR_037644 p.Lys15Thr LB/B rs201965035 - VDAC2 P45880 VAR_006380 p.Ala24Val LB/B - - VDR P11473 VAR_004656 p.Gly33Asp LP/P rs121909790 Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004657 p.His35Gln LP/P - Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004658 p.Lys45Glu LP/P - Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004659 p.Gly46Asp LP/P rs121909797 Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004660 p.Phe47Ile LP/P - Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004661 p.Arg50Gln LP/P rs121909794 Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004662 p.Arg73Gln LP/P rs121909791 Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004663 p.Arg80Gln LP/P rs121909793 Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004664 p.Arg274Leu LP/P rs121909796 Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004665 p.His305Gln LP/P rs121909798 Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004666 p.Ile314Ser LP/P rs121909799 Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004667 p.Arg391Cys LP/P rs121909800 Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_029309 p.Leu230Val LB/B rs11574090 - VDR P11473 VAR_029310 p.Thr362Ile LB/B rs11574115 - VDR P11473 VAR_079326 p.Val346Met LP/P rs267607169 Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_079327 p.Ser360Pro LP/P - Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VENTX O95231 VAR_035243 p.Leu42Pro LB/B rs2240892 - VENTX O95231 VAR_035244 p.Met79Val LB/B rs2240891 - VENTX O95231 VAR_049591 p.Glu101Lys LB/B rs2270192 - VENTX O95231 VAR_049592 p.Gly191Arg LB/B rs9418952 - VENTX O95231 VAR_061269 p.Gly247Asp LB/B rs9418953 - VEPH1 Q14D04 VAR_034692 p.Ser208Cys LB/B rs34559487 - VEPH1 Q14D04 VAR_034693 p.Val263Gly LB/B rs1378796 - VEPH1 Q14D04 VAR_034694 p.Ser271Cys LB/B rs1378795 - VEPH1 Q14D04 VAR_034695 p.Met319Val LB/B rs11923380 - VEPH1 Q14D04 VAR_034696 p.Leu329Val LB/B rs34823544 - VEPH1 Q14D04 VAR_034697 p.Arg365Gln LB/B rs16827563 - VEPH1 Q14D04 VAR_034698 p.Ser522Pro LB/B rs11918974 - VEPH1 Q14D04 VAR_061683 p.Ser501Leu LB/B rs59504298 - VEZT Q9HBM0 VAR_014945 p.Gly762Asp LB/B rs14121 - VEZT Q9HBM0 VAR_046303 p.Thr162Ala LB/B rs17855933 - VEZT Q9HBM0 VAR_046304 p.Val496Ile LB/B rs10507051 - VEZT Q9HBM0 VAR_046305 p.Val612Met LB/B rs17344738 - VEZT Q9HBM0 VAR_046306 p.Ser668Ala LB/B rs17855934 - VGLL1 Q99990 VAR_053735 p.Thr59Ile LB/B rs3027860 - VGLL4 Q14135 VAR_024689 p.Met32Ile LB/B rs2276749 - VHL P40337 VAR_005670 p.Ser38Pro LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005671 p.Glu52Lys LP/P rs373068386 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005672 p.Ser65Leu LP/P rs5030826 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005673 p.Ser65Trp LP/P rs5030826 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005675 p.Ser68Trp LP/P - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005675 p.Ser68Trp LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005676 p.Glu70Lys LP/P rs5030802 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005677 p.Val74Gly LP/P rs5030803 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005679 p.Phe76Ile LP/P rs1559425911 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005680 p.Phe76Leu LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005681 p.Phe76Ser LP/P rs730882033 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005682 p.Asn78His LP/P rs869025621 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005683 p.Asn78Ser LP/P rs5030804 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005684 p.Asn78Thr LP/P rs5030804 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005685 p.Arg79Pro LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005686 p.Ser80Ile LP/P rs5030805 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005687 p.Ser80Arg LP/P rs786202787 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005688 p.Ser80Asn LP/P rs5030805 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005688 p.Ser80Asn LP/P rs5030805 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005689 p.Pro81Ser LP/P rs104893829 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005690 p.Arg82Pro LP/P rs794726890 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005692 p.Val84Leu LP/P rs5030827 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005693 p.Pro86Ala LP/P rs398123481 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005694 p.Pro86Leu LP/P rs730882034 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005695 p.Pro86Arg LP/P rs730882034 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005696 p.Pro86Ser LP/P rs398123481 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005697 p.Trp88Arg LP/P rs1553619431 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005698 p.Trp88Ser LP/P rs119103277 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005699 p.Leu89His US rs5030807 Lung cancer VHL P40337 VAR_005700 p.Leu89Pro LP/P rs5030807 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005701 p.Phe91Leu LB/B rs1060503563 - VHL P40337 VAR_005703 p.Gly93Cys LP/P rs5030808 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005703 p.Gly93Cys LP/P rs5030808 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005704 p.Gly93Asp LP/P rs1553619440 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005705 p.Gly93Ser LP/P rs5030808 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005705 p.Gly93Ser LP/P rs5030808 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005706 p.Gln96Pro LP/P rs1559426089 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005707 p.Tyr98His LP/P rs5030809 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005707 p.Tyr98His LP/P rs5030809 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005708 p.Leu101Gly LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005709 p.Leu101Arg LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005710 p.Gly104Ala LB/B rs869025630 - VHL P40337 VAR_005711 p.Thr105Pro LP/P rs1553619461 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005712 p.Gly106Asp US rs1446876735 Lung cancer VHL P40337 VAR_005713 p.Arg107Pro LP/P rs193922609 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005714 p.Ser111Cys LP/P rs1559426203 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005715 p.Ser111Asn LP/P rs869025631 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005716 p.Ser111Arg LP/P rs765978945 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005717 p.Tyr112His LP/P rs104893824 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005718 p.Gly114Cys LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005719 p.Gly114Arg LP/P rs869025636 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005720 p.Gly114Ser LP/P rs869025636 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005722 p.His115Tyr LP/P rs5030811 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005723 p.His115Gln LP/P rs864622646 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005724 p.Leu116Val LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005725 p.Trp117Cys LP/P rs727504215 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005726 p.Leu118Pro LP/P rs5030830 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005727 p.Leu118Arg LP/P rs5030830 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005728 p.Phe119Leu LP/P rs1553619948 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005728 p.Phe119Leu LP/P rs1553619948 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005729 p.Phe119Ser LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005730 p.Asp121Gly LP/P rs5030832 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005731 p.Leu128Phe LP/P rs1553619956 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005733 p.Val130Leu LP/P rs104893830 Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] VHL P40337 VAR_005733 p.Val130Leu LP/P rs104893830 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005734 p.Asn131Lys LP/P rs1064794272 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005735 p.Asn131Thr LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005736 p.Phe136Ser LP/P rs5030833 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005737 p.Phe136Cys LP/P rs5030833 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005737 p.Phe136Cys LP/P rs5030833 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005738 p.Asp143Glu LP/P rs773556807 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005740 p.Ala149Thr LP/P rs587780077 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005741 p.Pro154Leu LP/P rs1399097617 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005742 p.Val155Gly LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005743 p.Tyr156Cys LP/P rs397516441 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005743 p.Tyr156Cys LP/P rs397516441 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005744 p.Tyr156Asp LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005746 p.Thr157Ile LP/P rs869025660 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005748 p.Leu158Pro LP/P rs121913346 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005749 p.Leu158Val LP/P rs1559429613 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005750 p.Lys159Glu LP/P rs1575932011 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005751 p.Arg161Gln LP/P rs730882035 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005751 p.Arg161Gln LP/P rs730882035 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005752 p.Arg161Pro LP/P - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005752 p.Arg161Pro LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005753 p.Arg161Gly LP/P rs5030818 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005754 p.Cys162Phe LP/P rs397516444 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005755 p.Cys162Arg LP/P rs1553620313 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005756 p.Cys162Trp LP/P rs5030622 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005757 p.Cys162Tyr LP/P rs397516444 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005758 p.Gln164Arg LP/P rs267607170 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005759 p.Val166Phe LP/P rs104893825 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005760 p.Arg167Gly LP/P rs5030820 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005761 p.Arg167Gln LP/P rs5030821 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005761 p.Arg167Gln LP/P rs5030821 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005762 p.Arg167Trp LP/P rs5030820 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005762 p.Arg167Trp LP/P rs5030820 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005763 p.Val170Asp LP/P rs864321642 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005764 p.Val170Phe LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005765 p.Val170Gly LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005766 p.Tyr175Asp LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005768 p.Leu178Pro LP/P rs5030822 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005769 p.Leu178Gln LP/P rs5030822 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005770 p.Ile180Val LP/P rs377715747 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005771 p.Leu184Arg LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005772 p.Leu184Pro LP/P rs1064793878 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005773 p.Glu186Lys LP/P rs367545984 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005775 p.Leu188Pro LP/P rs1559429824 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005776 p.Leu188Gln LP/P rs1559429824 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005777 p.Leu188Val LP/P rs5030824 Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] VHL P40337 VAR_005777 p.Leu188Val LP/P rs5030824 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005777 p.Leu188Val LP/P rs5030824 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005778 p.Leu198Arg LP/P - Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] VHL P40337 VAR_005778 p.Leu198Arg LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005779 p.Arg200Trp LP/P rs28940298 Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] VHL P40337 VAR_005779 p.Arg200Trp LP/P rs28940298 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_008097 p.Pro86His LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_008098 p.His115Arg LP/P rs5030812 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_008099 p.Phe136Tyr LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_008100 p.Gln145His LP/P rs771727849 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_008101 p.Val155Met LP/P rs869025659 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_008102 p.Gln164His LP/P rs1352275281 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_008103 p.Val166Asp LP/P rs397516445 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_008104 p.Arg176Trp LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_034562 p.Pro25Leu LP/P rs35460768 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_034987 p.Leu63Pro LP/P rs104893827 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_034988 p.Arg64Pro LP/P rs104893826 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_034989 p.Ser65Ala LP/P rs869025616 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_034991 p.Arg107Gly LP/P rs397516440 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_034992 p.Tyr112Asn LP/P rs104893824 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_034993 p.Ala122Ile LP/P - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_034994 p.Asp126Tyr LP/P rs104893831 Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] VHL P40337 VAR_034995 p.Leu135Phe LB/B rs119103278 - VHL P40337 VAR_034996 p.Ile147Thr LP/P rs1060503555 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_034997 p.Tyr156Asn LP/P - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_034998 p.Leu163Pro LP/P rs28940297 Renal cell carcinoma (RCC) [MIM:144700] VHL P40337 VAR_034999 p.His191Asp LP/P rs28940301 Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] VHL P40337 VAR_035000 p.Pro192Ser LP/P rs28940300 Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] VHL P40337 VAR_035001 p.Leu198Gln LP/P - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_055087 p.His110Tyr LB/B rs17855706 - VIL1 P09327 VAR_054502 p.Lys254Arg LB/B rs35305540 - VILL O15195 VAR_052938 p.Phe610Leu LB/B rs1892814 - VILL O15195 VAR_052939 p.Leu740Phe LB/B rs9816693 - VILL O15195 VAR_081640 p.Arg798Gln LB/B rs147292695 - VIM P08670 VAR_070100 p.Glu151Lys LP/P rs121917775 Cataract 30, multiple types (CTRCT30) [MIM:116300] VIM P08670 VAR_078860 p.Gln208Arg US rs1085307141 Cataract 30, multiple types (CTRCT30) [MIM:116300] VIPR1 P32241 VAR_020021 p.Arg445Leu LB/B rs3733055 - VIPR1 P32241 VAR_055041 p.Arg341Met LB/B rs17855906 - VIPR2 P41587 VAR_011811 p.Ala39Thr LB/B rs1062609 - VIPR2 P41587 VAR_011812 p.Arg412His LB/B rs1042620 - VIRMA Q69YN4 VAR_036845 p.Ile753Val LB/B rs7814840 - VIT Q6UXI7 VAR_068964 p.Lys555Arg LB/B rs2072526 - VIT Q6UXI7 VAR_068965 p.Leu559Ile LB/B rs2072525 - VIT Q6UXI7 VAR_068966 p.His658Tyr LB/B rs11901202 - VKORC1 Q9BQB6 VAR_021821 p.Val29Leu LP/P rs104894539 Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_021822 p.Val45Ala LP/P rs104894540 Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_021823 p.Arg58Gly LP/P rs104894541 Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_021824 p.Arg98Trp LP/P rs72547528 Combined deficiency of vitamin K-dependent clotting factors 2 (VKCFD2) [MIM:607473] VKORC1 Q9BQB6 VAR_021825 p.Leu128Arg LP/P rs104894542 Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_065785 p.Ala26Thr LP/P rs770703948 Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_065786 p.Asp36Gly LP/P - Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_065787 p.Asp36Tyr LP/P rs61742245 Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_065788 p.Ser52Trp LP/P - Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_065789 p.Ser56Phe LP/P - Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_065790 p.Trp59Cys LP/P - Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_065791 p.Trp59Leu LP/P - Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_065792 p.Val66Gly LP/P - Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_065793 p.Val66Met LP/P rs72547529 Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_065794 p.Gly71Ala LP/P - Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_065795 p.Asn77Ser LP/P - Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_065796 p.Asn77Tyr LP/P rs755767348 Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_065797 p.Ile123Asn LP/P - Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_065798 p.Tyr139His LP/P - Coumarin resistance (CMRES) [MIM:122700] VLDLR P98155 VAR_011865 p.Val59Ile LB/B rs6149 - VLDLR P98155 VAR_011866 p.Glu379Lys LB/B rs6146 - VLDLR P98155 VAR_025063 p.Pro262His LB/B rs34761707 - VLDLR P98155 VAR_025064 p.Leu464Ile LB/B rs34753566 - VLDLR P98155 VAR_025065 p.Ile561Val LB/B rs35724190 - VLDLR P98155 VAR_025066 p.Arg613His LB/B rs35948251 - VLDLR P98155 VAR_025067 p.Val791Ile LB/B rs35334949 - VMO1 Q7Z5L0 VAR_034584 p.Thr77Ser LB/B rs2279961 - VMO1 Q7Z5L0 VAR_053736 p.Thr26Ala LB/B rs4790706 - VN1R1 Q9GZP7 VAR_022795 p.Ile139Thr LB/B rs374900565 - VN1R1 Q9GZP7 VAR_022796 p.Ser241Phe LB/B rs28649880 - VN1R1 Q9GZP7 VAR_022797 p.Ala269Asp LB/B rs61744949 - VN1R1 Q9GZP7 VAR_049452 p.Ile103Met LB/B rs3746223 - VN1R2 Q8NFZ6 VAR_022798 p.Cys38Arg LB/B rs2965249 - VN1R4 Q7Z5H5 VAR_022799 p.Ala52Val LB/B rs74429916 - VN1R4 Q7Z5H5 VAR_022800 p.Arg58Leu LB/B rs140031028 - VN1R4 Q7Z5H5 VAR_022801 p.Asn220Asp LB/B rs12977715 - VN1R5 Q7Z5H4 VAR_022802 p.Arg350Cys LB/B rs41308154 - VNN1 O95497 VAR_023529 p.Thr26Ile LB/B rs2294757 - VNN1 O95497 VAR_023967 p.Ala63Thr LB/B - - VNN1 O95497 VAR_023968 p.Asn131Ser LB/B rs2272996 - VNN1 O95497 VAR_023969 p.Val136Leu LB/B rs45610032 - VNN1 O95497 VAR_023970 p.Asp146Asn LB/B rs45624336 - VNN1 O95497 VAR_023971 p.Glu296Asp LB/B rs45523444 - VNN1 O95497 VAR_023972 p.Ala325Glu LB/B rs34535050 - VNN1 O95497 VAR_023973 p.Thr336Ala LB/B rs45562238 - VNN1 O95497 VAR_023974 p.Ile373Thr LB/B rs35938565 - VNN2 O95498 VAR_023530 p.Leu404Met LB/B rs4895944 - VNN2 O95498 VAR_025177 p.Thr17Asn LB/B rs33950336 - VNN2 O95498 VAR_025178 p.Asp112Glu LB/B rs35993077 - VNN2 O95498 VAR_025179 p.Val241Ile LB/B rs33920182 - VNN2 O95498 VAR_025180 p.Thr349Ser LB/B rs36092168 - VNN2 O95498 VAR_031261 p.Val30Ala LB/B rs2294760 - VPREB1 P12018 VAR_024503 p.Asp76Asn LB/B rs1320 - VPREB1 P12018 VAR_029133 p.Ser122Leu LB/B rs11089979 - VPREB1 P12018 VAR_029134 p.Glu132Lys LB/B rs5995720 - VPREB3 Q9UKI3 VAR_049954 p.Arg4Trp LB/B rs34372784 - VPS11 Q9H270 VAR_059813 p.Val770Ile LB/B rs11558589 - VPS11 Q9H270 VAR_076393 p.Cys846Gly LP/P - Leukodystrophy, hypomyelinating, 12 (HLD12) [MIM:616683] VPS11 Q9H270 VAR_086501 p.Pro46Ser US - Dystonia 32 (DYT32) [MIM:619637] VPS13A Q96RL7 VAR_012803 p.Ser1452Pro LP/P - Choreoacanthocytosis (CHAC) [MIM:200150] VPS13A Q96RL7 VAR_036324 p.Arg161His US - A colorectal cancer sample VPS13A Q96RL7 VAR_038420 p.Ile90Lys LP/P rs119477052 Choreoacanthocytosis (CHAC) [MIM:200150] VPS13A Q96RL7 VAR_038421 p.Tyr2721Cys LP/P rs781395681 Choreoacanthocytosis (CHAC) [MIM:200150] VPS13A Q96RL7 VAR_058114 p.Phe565Leu LB/B - - VPS13A Q96RL7 VAR_058115 p.Val898Ala LB/B rs78048112 - VPS13A Q96RL7 VAR_058116 p.Ala1095Pro LP/P - Choreoacanthocytosis (CHAC) [MIM:200150] VPS13A Q96RL7 VAR_058117 p.Arg1490Lys LB/B rs76077278 - VPS13A Q96RL7 VAR_058118 p.Tyr1587Cys LB/B rs149840356 - VPS13A Q96RL7 VAR_058119 p.Val1973Ile LB/B rs41289969 - VPS13A Q96RL7 VAR_058120 p.Trp2460Arg LP/P rs1400127478 Choreoacanthocytosis (CHAC) [MIM:200150] VPS13A Q96RL7 VAR_058121 p.Ile2486Thr LB/B rs141138349 - VPS13A Q96RL7 VAR_058122 p.Pro3172Leu LB/B rs75740713 - VPS13A Q96RL7 VAR_086164 p.Leu67Pro LP/P - Choreoacanthocytosis (CHAC) [MIM:200150] VPS13B Q7Z7G8 VAR_017759 p.Leu2193Arg US rs120074149 Cohen syndrome (COH1) [MIM:216550] VPS13B Q7Z7G8 VAR_036325 p.Leu3001Val US - A breast cancer sample VPS13B Q7Z7G8 VAR_038422 p.Tyr2341Cys LP/P rs386834104 Cohen syndrome (COH1) [MIM:216550] VPS13B Q7Z7G8 VAR_038423 p.Gly2645Asp LP/P rs120074153 Cohen syndrome (COH1) [MIM:216550] VPS13B Q7Z7G8 VAR_038424 p.Asn2993Ser LP/P rs28940272 Cohen syndrome (COH1) [MIM:216550] VPS13B Q7Z7G8 VAR_057750 p.Pro1138Leu LB/B rs35342235 - VPS13B Q7Z7G8 VAR_057751 p.Val2584Ala LB/B rs7833870 - VPS13B Q7Z7G8 VAR_057752 p.Gly3432Arg LB/B rs6468694 - VPS13B Q7Z7G8 VAR_058749 p.Ala829Thr LB/B rs61753721 - VPS13B Q7Z7G8 VAR_058750 p.Val866Ile LB/B rs150185067 - VPS13B Q7Z7G8 VAR_058753 p.Ile1994Val LB/B rs139640224 - VPS13B Q7Z7G8 VAR_058754 p.Ser2773Leu LP/P rs180177370 Cohen syndrome (COH1) [MIM:216550] VPS13B Q7Z7G8 VAR_058755 p.Ile2820Thr LP/P rs120074155 Cohen syndrome (COH1) [MIM:216550] VPS13B Q7Z7G8 VAR_058756 p.Tyr2822Cys LB/B rs371325199 - VPS13B Q7Z7G8 VAR_058757 p.Ser3142Arg LB/B - - VPS13B Q7Z7G8 VAR_069429 p.Val2481Ile LB/B rs201963516 - VPS13B Q7Z7G8 VAR_086609 p.Val3445Met US rs191174682 Cohen syndrome (COH1) [MIM:216550] VPS13C Q709C8 VAR_029548 p.Arg153His LB/B rs12595158 - VPS13C Q709C8 VAR_029549 p.Arg974Lys LB/B rs3784634 - VPS13C Q709C8 VAR_029550 p.Ile1132Val LB/B rs3784635 - VPS13C Q709C8 VAR_029551 p.Tyr1302Cys LB/B rs2303405 - VPS13C Q709C8 VAR_029552 p.Thr1485Ala LB/B rs8026956 - VPS13C Q709C8 VAR_029553 p.Ile1495Val LB/B rs11629598 - VPS13C Q709C8 VAR_029554 p.Ser1592Tyr LB/B rs11629838 - VPS13C Q709C8 VAR_029555 p.Val2322Met LB/B rs12907567 - VPS13C Q709C8 VAR_029556 p.Ser2913Asn LB/B rs10851704 - VPS13C Q709C8 VAR_053808 p.Lys2808Arg LB/B rs34060567 - VPS13C Q709C8 VAR_074191 p.Cys2872Phe LB/B - - VPS13C Q709C8 VAR_076363 p.Gly1389Arg LP/P rs369100678 Parkinson disease 23, autosomal recessive, early onset (PARK23) [MIM:616840] VPS13D Q5THJ4 VAR_029557 p.Ala225Thr LB/B rs12057307 - VPS13D Q5THJ4 VAR_029558 p.Ser1341Leu LB/B rs12407578 - VPS13D Q5THJ4 VAR_029559 p.Glu1505Val LB/B rs4845898 - VPS13D Q5THJ4 VAR_029560 p.Ser1707Phe LB/B rs958068 - VPS13D Q5THJ4 VAR_062169 p.Ile1624Thr LB/B rs41279454 - VPS13D Q5THJ4 VAR_080911 p.Thr865Ala LP/P rs1383958401 Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317] VPS13D Q5THJ4 VAR_080912 p.Gly1200Asp LP/P rs768331333 Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317] VPS13D Q5THJ4 VAR_080913 p.Leu2900Ser LP/P - Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317] VPS13D Q5THJ4 VAR_080914 p.Arg3253Gln LP/P rs1191625571 Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317] VPS13D Q5THJ4 VAR_080915 p.Asn3521Ser LP/P rs1557737087 Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317] VPS13D Q5THJ4 VAR_080916 p.Arg4228Gln LP/P rs1557478316 Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317] VPS13D Q5THJ4 VAR_081498 p.Gly1190Asp LP/P rs1557680919 Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317] VPS13D Q5THJ4 VAR_081499 p.Met1307Leu US rs775845475 Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317] VPS13D Q5THJ4 VAR_081503 p.Asn4107Ile US - Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317] VPS13D Q5THJ4 VAR_081504 p.Gly4149Ser US - Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317] VPS13D Q5THJ4 VAR_081505 p.Ala4210Val LP/P rs746736545 Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317] VPS16 Q9H269 VAR_053776 p.Ser637Ile LB/B rs35773586 - VPS16 Q9H269 VAR_076520 p.Asn52Lys LP/P rs367642720 Dystonia 30 (DYT30) [MIM:619291] VPS18 Q9P253 VAR_035950 p.Ala913Ser US - A colorectal cancer sample VPS25 Q9BRG1 VAR_048940 p.Ile76Val LB/B rs34494804 - VPS33A Q96AX1 VAR_052471 p.Ile256Leu LB/B rs34996966 - VPS33A Q96AX1 VAR_078032 p.Arg498Trp LP/P rs767748011 Mucopolysaccharidosis-plus syndrome (MPSPS) [MIM:617303] VPS33B Q9H267 VAR_013828 p.Gly514Ser LB/B rs11073964 - VPS33B Q9H267 VAR_018983 p.Leu30Pro LP/P rs121434385 Arthrogryposis, renal dysfunction and cholestasis syndrome 1 (ARCS1) [MIM:208085] VPS33B Q9H267 VAR_057330 p.Phe513Ser LB/B rs3177428 - VPS33B Q9H267 VAR_057901 p.Ser243Phe LP/P rs139829189 Arthrogryposis, renal dysfunction and cholestasis syndrome 1 (ARCS1) [MIM:208085] VPS33B Q9H267 VAR_087658 p.Gly131Glu LP/P rs1373855924 Keratoderma-ichthyosis-deafness syndrome, autosomal recessive (KDIDAR) [MIM:620009] VPS33B Q9H267 VAR_087660 p.Cys576Arg LP/P rs1596348299 Cholestasis, progressive familial intrahepatic, 12 (PFIC12) [MIM:620010] VPS35 Q96QK1 VAR_054046 p.Val602Asp LB/B rs34687100 - VPS35 Q96QK1 VAR_066653 p.Gly51Ser LB/B rs193077277 - VPS35 Q96QK1 VAR_066654 p.Met57Ile LB/B rs183554824 - VPS35 Q96QK1 VAR_066655 p.Thr82Arg LB/B rs188245364 - VPS35 Q96QK1 VAR_066656 p.Ile241Met LB/B rs192783364 - VPS35 Q96QK1 VAR_066657 p.Pro316Ser LB/B rs770029606 - VPS35 Q96QK1 VAR_066658 p.Arg524Trp LB/B rs184277092 - VPS35 Q96QK1 VAR_066659 p.Asp620Asn LP/P rs188286943 Parkinson disease 17 (PARK17) [MIM:614203] VPS35 Q96QK1 VAR_066660 p.Ala737Val LB/B rs749516404 - VPS35 Q96QK1 VAR_066661 p.Leu774Met LB/B rs192419029 - VPS35 Q96QK1 VAR_080769 p.Gln469Pro US - - VPS35L Q7Z3J2 VAR_037230 p.Tyr32Cys LB/B rs17854969 - VPS35L Q7Z3J2 VAR_037231 p.Asn186Ile LB/B rs7206637 - VPS35L Q7Z3J2 VAR_037232 p.Ala506Val LB/B rs17854970 - VPS35L Q7Z3J2 VAR_085197 p.Ala830Thr LP/P rs747119819 Ritscher-Schinzel syndrome 3 (RTSC3) [MIM:619135] VPS37A Q8NEZ2 VAR_032287 p.Ile206Phe LB/B rs17502618 - VPS37A Q8NEZ2 VAR_032288 p.Ile213Val LB/B rs17687375 - VPS37A Q8NEZ2 VAR_068424 p.Lys382Asn LP/P rs211694394 Spastic paraplegia 53, autosomal recessive (SPG53) [MIM:614898] VPS37C A5D8V6 VAR_037451 p.Val182Asp LB/B rs2232142 - VPS37C A5D8V6 VAR_037452 p.Leu198Ser LB/B rs754382 - VPS41 P49754 VAR_047914 p.Thr146Pro LB/B rs35693565 - VPS41 P49754 VAR_047915 p.Cys647Arg LB/B rs11762417 - VPS41 P49754 VAR_047916 p.Arg843His LB/B rs1059508 - VPS41 P49754 VAR_085704 p.Glu13Gly US - Spinocerebellar ataxia, autosomal recessive, 29 (SCAR29) [MIM:619389] VPS41 P49754 VAR_085705 p.Ser285Pro LP/P rs544223875 Spinocerebellar ataxia, autosomal recessive, 29 (SCAR29) [MIM:619389] VPS41 P49754 VAR_085706 p.Arg633Pro US - Spinocerebellar ataxia, autosomal recessive, 29 (SCAR29) [MIM:619389] VPS41 P49754 VAR_085708 p.Cys791Phe LP/P - Spinocerebellar ataxia, autosomal recessive, 29 (SCAR29) [MIM:619389] VPS45 Q9NRW7 VAR_069865 p.Thr224Asn LP/P rs879255237 Neutropenia, severe congenital 5, autosomal recessive (SCN5) [MIM:615285] VPS45 Q9NRW7 VAR_069866 p.Glu238Lys LP/P rs782269909 Neutropenia, severe congenital 5, autosomal recessive (SCN5) [MIM:615285] VPS4A Q9UN37 VAR_085594 p.Ala28Val US rs1965431981 CIMDAG syndrome (CIMDAG) [MIM:619273] VPS4A Q9UN37 VAR_085596 p.Gly203Glu LP/P rs1965484288 CIMDAG syndrome (CIMDAG) [MIM:619273] VPS4A Q9UN37 VAR_085597 p.Glu206Lys LP/P - CIMDAG syndrome (CIMDAG) [MIM:619273] VPS4A Q9UN37 VAR_085598 p.Arg284Gly LP/P - CIMDAG syndrome (CIMDAG) [MIM:619273] VPS4A Q9UN37 VAR_085599 p.Arg284Trp LP/P rs1965499910 CIMDAG syndrome (CIMDAG) [MIM:619273] VPS4A Q9UN37 VAR_085600 p.Ile337Val US - - VPS4B O75351 VAR_023385 p.Ile58Met LB/B rs17688948 - VPS51 Q9UID3 VAR_083139 p.Arg490Cys LP/P rs1203009966 Pontocerebellar hypoplasia 13 (PCH13) [MIM:618606] VPS53 Q5VIR6 VAR_059959 p.Leu328Ile LB/B rs16954056 - VPS53 Q5VIR6 VAR_066561 p.Leu375Arg LB/B rs61644407 - VPS53 Q5VIR6 VAR_071803 p.Gln695Arg LP/P rs587777465 Pontocerebellar hypoplasia 2E (PCH2E) [MIM:615851] VPS54 Q9P1Q0 VAR_052944 p.Ser561Cys LB/B rs34015596 - VPS54 Q9P1Q0 VAR_061983 p.Met912Ile LB/B rs11558741 - VPS72 Q15906 VAR_035803 p.Ile318Val US rs1182821166 A breast cancer sample VPS8 Q8N3P4 VAR_030730 p.Ile83Val LB/B rs9830734 - VPS8 Q8N3P4 VAR_030731 p.His1165Tyr LB/B rs11555405 - VPS8 Q8N3P4 VAR_030732 p.Ile1364Thr LB/B rs3821750 - VPS8 Q8N3P4 VAR_030733 p.Arg1372His LB/B rs16859527 - VRK2 Q86Y07 VAR_017095 p.Ile167Val LB/B rs1051061 - VRK2 Q86Y07 VAR_041293 p.Asn50Asp LB/B rs34130684 - VRK2 Q86Y07 VAR_041294 p.Ile157Met LB/B rs35966666 - VRK2 Q86Y07 VAR_051681 p.Asn211Ser LB/B rs36081172 - VRK3 Q8IV63 VAR_041295 p.Ser59Phe LB/B rs2033262 - VRK3 Q8IV63 VAR_041296 p.Pro105Thr LB/B rs11547882 - VRK3 Q8IV63 VAR_041297 p.Phe171Leu LB/B rs11547883 - VRK3 Q8IV63 VAR_041298 p.Ser268Leu LB/B rs10410075 - VRK3 Q8IV63 VAR_041299 p.Cys288Tyr LB/B rs10409482 - VRK3 Q8IV63 VAR_041300 p.Arg370Cys LB/B rs35331034 - VRK3 Q8IV63 VAR_041301 p.Ser371Gly LB/B rs56407496 - VRK3 Q8IV63 VAR_051682 p.Ser170Pro LB/B rs11547881 - VRK3 Q8IV63 VAR_051683 p.Thr188Ala LB/B rs11879620 - VRK3 Q8IV63 VAR_051684 p.His304Leu LB/B rs35261919 - VRTN Q9H8Y1 VAR_035677 p.Val133Met US rs773509797 A colorectal cancer sample VRTN Q9H8Y1 VAR_050876 p.Leu53Phe LB/B rs2232032 - VSIG1 Q86XK7 VAR_049955 p.Val147Ile LB/B rs17254305 - VSIG10 Q8N0Z9 VAR_045692 p.Val333Met LB/B rs9668527 - VSIG10 Q8N0Z9 VAR_045693 p.His435Tyr LB/B rs7307331 - VSIG10L Q86VR7 VAR_063282 p.Asn3Thr LB/B rs10414211 - VSIG10L Q86VR7 VAR_063283 p.Met356Ile LB/B rs7259266 - VSIG10L Q86VR7 VAR_063284 p.Arg592Gln LB/B rs34380065 - VSIG10L Q86VR7 VAR_063285 p.Arg627His LB/B rs57710066 - VSIG10L Q86VR7 VAR_080077 p.Ser631Gly US rs1263178238 - VSIG10L Q86VR7 VAR_080078 p.Gly769Ser US rs377207472 - VSIG4 Q9Y279 VAR_049956 p.Arg108Trp LB/B rs34581041 - VSIG4 Q9Y279 VAR_049957 p.Gly272Glu LB/B rs34222730 - VSIG4 Q9Y279 VAR_049958 p.Gly279Glu LB/B rs17315645 - VSIG4 Q9Y279 VAR_049959 p.Ser397Ile LB/B rs35553694 - VSIR Q9H7M9 VAR_028036 p.Asp187Glu LB/B rs3747869 - VSNL1 P62760 VAR_047313 p.Ala65Gly LB/B rs1042674 - VSNL1 P62760 VAR_047314 p.Lys172Arg LB/B rs1042685 - VSTM1 Q6UX27 VAR_030034 p.Ser163Gly LB/B rs2433724 - VSTM2A Q8TAG5 VAR_047034 p.Glu84Lys LB/B rs17855529 - VSTM4 Q8IW00 VAR_030291 p.Phe68Ser LB/B rs13088 - VSTM4 Q8IW00 VAR_035539 p.Arg100His US rs138454994 A colorectal cancer sample VSTM4 Q8IW00 VAR_065188 p.Lys243Arg LB/B rs17854124 - VSX1 Q9NZR4 VAR_014243 p.Asp144Glu LB/B rs140122268 - VSX1 Q9NZR4 VAR_014244 p.Leu159Met US rs74315434 Keratoconus 1 (KTCN1) [MIM:148300] VSX1 Q9NZR4 VAR_014245 p.Gly160Asp US rs74315433 Keratoconus 1 (KTCN1) [MIM:148300] VSX1 Q9NZR4 VAR_014246 p.Arg166Trp LP/P rs74315432 Keratoconus 1 (KTCN1) [MIM:148300] VSX1 Q9NZR4 VAR_014247 p.His244Arg US rs148957473 Keratoconus 1 (KTCN1) [MIM:148300] VSX1 Q9NZR4 VAR_014248 p.Pro247Arg US rs576300014 Keratoconus 1 (KTCN1) [MIM:148300] VSX1 Q9NZR4 VAR_063100 p.Gln175His LP/P rs771561481 Keratoconus 1 (KTCN1) [MIM:148300] VSX1 Q9NZR4 VAR_066670 p.Leu17Pro LP/P rs74315436 Keratoconus 1 (KTCN1) [MIM:148300] VSX1 Q9NZR4 VAR_066671 p.Arg131Ser LB/B rs6050307 - VSX1 Q9NZR4 VAR_066672 p.Ala256Ser LP/P rs74315435 Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS) [MIM:614195] VSX1 Q9NZR4 VAR_076692 p.Gly239Arg US rs749663315 Keratoconus 1 (KTCN1) [MIM:148300] VSX2 P58304 VAR_011618 p.Arg200Pro LP/P rs121912543 Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092] VSX2 P58304 VAR_011619 p.Arg200Gln LP/P rs121912543 Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092] VSX2 P58304 VAR_029357 p.Arg227Trp LP/P rs121912545 Microphthalmia, isolated, 2 (MCOP2) [MIM:610093] VSX2 P58304 VAR_049593 p.Pro100Gln LB/B rs35214083 - VSX2 P58304 VAR_067269 p.Gly223Ala LP/P - Microphthalmia, isolated, 2 (MCOP2) [MIM:610093] VSX2 P58304 VAR_075633 p.Gly223Arg LP/P rs755799430 Microphthalmia, isolated, with coloboma, 3 (MCOPCB3) [MIM:610092] VTA1 Q9NP79 VAR_053917 p.Ile239Met LB/B rs2232307 - VTN P04004 VAR_012983 p.Ala122Ser LB/B rs2227741 - VTN P04004 VAR_012984 p.Arg268Gln LB/B rs2227723 - VTN P04004 VAR_012985 p.Thr400Met LB/B rs704 - VWA2 Q5GFL6 VAR_035418 p.Ala9Thr LB/B rs9664945 - VWA2 Q5GFL6 VAR_035419 p.Glu131Gly LB/B rs597371 - VWA2 Q5GFL6 VAR_036641 p.Leu137Arg US - A colorectal cancer sample VWA3A A6NCI4 VAR_057020 p.Thr657Ile LB/B rs1105929 - VWA3A A6NCI4 VAR_057021 p.Gln1165Pro LB/B rs16972517 - VWA3A A6NCI4 VAR_059738 p.Thr464Ile LB/B rs1369695824 - VWA3B Q502W6 VAR_043571 p.Arg181Trp LB/B rs2305355 - VWA3B Q502W6 VAR_043572 p.Leu677Val LB/B rs7601049 - VWA3B Q502W6 VAR_043573 p.Val885Met LB/B rs11889349 - VWA3B Q502W6 VAR_043574 p.Asp1223Glu LB/B rs17428626 - VWA3B Q502W6 VAR_043575 p.Arg1245Lys LB/B rs7587534 - VWA3B Q502W6 VAR_043576 p.Thr1277Ile LB/B rs2271038 - VWA3B Q502W6 VAR_057022 p.Ile1103Met LB/B rs6731704 - VWA3B Q502W6 VAR_075091 p.Lys622Thr LP/P rs876657414 Spinocerebellar ataxia, autosomal recessive, 22 (SCAR22) [MIM:616948] VWA3B Q502W6 VAR_076433 p.Leu42Met LB/B rs200359284 - VWA5A O00534 VAR_014193 p.Ser499Ile LB/B rs2276054 - VWA5A O00534 VAR_014194 p.Arg506Lys LB/B rs2276053 - VWA5A O00534 VAR_014195 p.Arg757Cys LB/B rs117689747 - VWA5A O00534 VAR_014196 p.His759Arg LB/B rs200614108 - VWA5A O00534 VAR_059692 p.Ser202Gly LB/B rs35496433 - VWA5A O00534 VAR_059693 p.Glu205Lys LB/B rs35215239 - VWA5B1 Q5TIE3 VAR_039994 p.Ala319Ser LB/B rs2872972 - VWA5B1 Q5TIE3 VAR_039995 p.Asn469Ser LB/B rs2072752 - VWA5B1 Q5TIE3 VAR_039996 p.Ser506Asn LB/B rs12072406 - VWA5B1 Q5TIE3 VAR_039997 p.Lys634Arg LB/B rs10916769 - VWA5B2 Q8N398 VAR_043939 p.Pro200Ser LB/B rs902417 - VWA7 Q9Y334 VAR_056884 p.Arg139His LB/B rs17207531 - VWA7 Q9Y334 VAR_056885 p.Arg488Gln LB/B rs11966331 - VWA7 Q9Y334 VAR_056886 p.Arg680Gln LB/B rs28400004 - VWA7 Q9Y334 VAR_056887 p.Gly704Val LB/B rs28400002 - VWA7 Q9Y334 VAR_056888 p.Arg711Cys LB/B rs28400001 - VWA7 Q9Y334 VAR_060378 p.Thr861Ala LB/B rs3101017 - VWA8 A3KMH1 VAR_044337 p.Arg165His LB/B rs9562362 - VWA8 A3KMH1 VAR_044338 p.Met383Thr LB/B rs3742262 - VWA8 A3KMH1 VAR_044339 p.Gly408Arg LB/B rs17062601 - VWA8 A3KMH1 VAR_044340 p.Arg660Gly LB/B rs9562353 - VWA8 A3KMH1 VAR_049512 p.Glu1300Lys LB/B rs2274810 - VWA8 A3KMH1 VAR_061239 p.Arg898Lys LB/B rs41288291 - VWA8 A3KMH1 VAR_088634 p.Gly1024Arg LP/P - Retinitis pigmentosa 97 (RP97) [MIM:620422] VWC2 Q2TAL6 VAR_035371 p.Ala120Gly LB/B rs769604 - VWCE Q96DN2 VAR_038782 p.Pro842Arg LB/B rs3750982 - VWDE Q8N2E2 VAR_047871 p.Lys964Asn LB/B rs6460939 - VWDE Q8N2E2 VAR_047872 p.Thr1032Met LB/B rs2053380 - VWDE Q8N2E2 VAR_047873 p.Gln1256Lys LB/B rs6967385 - VWDE Q8N2E2 VAR_047874 p.Phe1485Cys LB/B rs2192828 - VWDE Q8N2E2 VAR_071061 p.Ser607Phe LB/B rs963323 - VWF P04275 VAR_005782 p.Trp377Cys LP/P rs62643626 Von Willebrand disease 3 (VWD3) [MIM:277480] VWF P04275 VAR_005783 p.Asn528Ser LP/P rs61754010 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005784 p.Gly550Arg LP/P rs61754011 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005785 p.Thr789Ala LB/B rs1063856 - VWF P04275 VAR_005786 p.Thr791Met LP/P rs61748477 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005787 p.Arg816Trp LP/P rs121964894 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005788 p.Gln852Arg LB/B rs216321 - VWF P04275 VAR_005789 p.Arg854Gln LP/P rs41276738 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005790 p.Asn857Asp LB/B - - VWF P04275 VAR_005791 p.Pro1266Leu LP/P rs61749370 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005792 p.His1268Asp LP/P rs61749371 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005793 p.Cys1272Arg LP/P rs61749372 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005794 p.Arg1306Trp LP/P rs61749384 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005795 p.Arg1308Cys LP/P rs61749387 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005796 p.Trp1313Cys LP/P rs61749392 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005797 p.Val1314Leu LP/P rs61749393 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005798 p.Val1316Met LP/P rs61749397 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005799 p.Val1318Leu LP/P rs372028373 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005800 p.Gly1324Ser LP/P rs61749398 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005801 p.Arg1341Gln LP/P rs61749403 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005802 p.Arg1374Cys LP/P rs61750071 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005803 p.Arg1374His LP/P rs61750072 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005804 p.Thr1381Ala LB/B rs216311 - VWF P04275 VAR_005805 p.Arg1399His LB/B rs1800382 - VWF P04275 VAR_005806 p.Leu1460Val LP/P rs61750088 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005807 p.Ala1461Val LP/P rs61750089 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005808 p.Phe1514Cys LP/P rs61750101 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005809 p.Leu1540Pro LP/P rs267607342 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005810 p.Tyr1584Cys LB/B rs1800386 - VWF P04275 VAR_005811 p.Arg1597Gly LP/P rs61750117 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005812 p.Arg1597Gln LP/P rs61750577 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005813 p.Arg1597Trp LP/P rs61750117 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005814 p.Val1607Asp LP/P rs61750579 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005815 p.Gly1609Arg LP/P rs61750580 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005816 p.Ser1613Pro LP/P rs61750581 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005817 p.Ile1628Thr LP/P rs61750584 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005818 p.Glu1638Lys LP/P rs61750588 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005819 p.Pro1648Ser LP/P rs61750590 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005820 p.Val1665Glu LP/P rs61750596 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_005821 p.Cys2739Tyr LP/P rs61751305 Von Willebrand disease 3 (VWD3) [MIM:277480] VWF P04275 VAR_005822 p.Cys2773Arg LP/P rs61751310 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_009141 p.Cys788Tyr LP/P rs61748476 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_009142 p.Pro2063Ser LP/P rs61750615 Von Willebrand disease 3 (VWD3) [MIM:277480] VWF P04275 VAR_009143 p.Cys2362Phe LP/P rs61750630 Von Willebrand disease 3 (VWD3) [MIM:277480] VWF P04275 VAR_009144 p.Asn2546Tyr LP/P rs61751298 Von Willebrand disease 3 (VWD3) [MIM:277480] VWF P04275 VAR_010242 p.Arg273Trp LP/P rs61753997 Von Willebrand disease 1 (VWD1) [MIM:193400] VWF P04275 VAR_010242 p.Arg273Trp LP/P rs61753997 Von Willebrand disease 3 (VWD3) [MIM:277480] VWF P04275 VAR_014630 p.Val1565Leu LB/B rs1800385 - VWF P04275 VAR_024553 p.His484Arg LB/B rs1800378 - VWF P04275 VAR_028446 p.Cys1060Arg LP/P rs61748497 Von Willebrand disease 2 (VWD2) [MIM:613554] VWF P04275 VAR_029656 p.Asp1472His LB/B rs1800383 - VWF P04275 VAR_036276 p.Tyr1570Cys US - A breast cancer sample VWF P04275 VAR_057023 p.Asn318Lys LB/B rs1800387 - VWF P04275 VAR_057024 p.Met740Ile LB/B rs2228317 - VWF P04275 VAR_057025 p.Phe885Ser LB/B rs11064002 - VWF P04275 VAR_057026 p.Ala2178Ser LB/B rs34230288 - VWF P04275 VAR_057027 p.Arg2185Gln LB/B rs2229446 - VWF P04275 VAR_057028 p.Gly2705Arg LB/B rs7962217 - VWF P04275 VAR_060591 p.Val471Ile LB/B rs1800377 - VWF P04275 VAR_064925 p.Cys1149Arg LP/P rs61748511 Von Willebrand disease 1 (VWD1) [MIM:193400] VWF P04275 VAR_067340 p.Cys1272Phe LP/P rs63524161 Von Willebrand disease 2 (VWD2) [MIM:613554] WAC Q9BTA9 VAR_028838 p.Ser242Arg LB/B rs11595926 - WAC Q9BTA9 VAR_028839 p.Thr531Ser LB/B rs7127 - WAC Q9BTA9 VAR_036351 p.Ser475Leu US - A colorectal cancer sample WAC Q9BTA9 VAR_053448 p.Thr309Ala LB/B rs2232791 - WAPL Q7Z5K2 VAR_026967 p.Val124Ile LB/B rs10887621 - WAPL Q7Z5K2 VAR_082314 p.Arg731His US rs1564570621 - WARS1 P23381 VAR_036466 p.Glu455Asp US - A breast cancer sample WARS1 P23381 VAR_052406 p.Ala54Ser LB/B rs2234521 - WARS1 P23381 VAR_080407 p.His257Arg LP/P - Neuronopathy, distal hereditary motor, autosomal dominant 9 (HMND9) [MIM:617721] WARS1 P23381 VAR_080408 p.Ala443Ser LB/B rs139914390 - WARS1 P23381 VAR_088482 p.Asp83Ala LB/B - - WARS1 P23381 VAR_088483 p.Arg133Cys LP/P - Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities (NEDMSBA) [MIM:620317] WARS1 P23381 VAR_088484 p.Phe138Tyr LP/P - Neuronopathy, distal hereditary motor, autosomal dominant 9 (HMND9) [MIM:617721] WARS1 P23381 VAR_088485 p.Asp314Gly LP/P - Neuronopathy, distal hereditary motor, autosomal dominant 9 (HMND9) [MIM:617721] WARS1 P23381 VAR_088486 p.Ala333Thr US - Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities (NEDMSBA) [MIM:620317] WARS1 P23381 VAR_088487 p.Asp419Asn US - Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities (NEDMSBA) [MIM:620317] WARS1 P23381 VAR_088488 p.Arg448Trp US - Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities (NEDMSBA) [MIM:620317] WARS2 Q9UGM6 VAR_020217 p.Ala267Pro LB/B rs3790549 - WARS2 Q9UGM6 VAR_028848 p.Gly50Ser LB/B rs11552864 - WARS2 Q9UGM6 VAR_052407 p.Leu360Pro LB/B rs17023101 - WARS2 Q9UGM6 VAR_078435 p.Trp13Gly LP/P rs139548132 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710] WARS2 Q9UGM6 VAR_078435 p.Trp13Gly LP/P rs139548132 Parkinsonism-dystonia 3, childhood-onset (PKDYS3) [MIM:619738] WARS2 Q9UGM6 VAR_079734 p.Gly45Val LP/P rs1553241795 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710] WARS2 Q9UGM6 VAR_079735 p.His77Gln US rs766501807 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710] WARS2 Q9UGM6 VAR_079737 p.Val178Leu LP/P rs912133959 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710] WARS2 Q9UGM6 VAR_079738 p.Lys313Met LP/P rs145867327 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710] WARS2 Q9UGM6 VAR_079739 p.Val349Leu LP/P rs1170780314 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710] WARS2 Q9UGM6 VAR_079740 p.Glu352Lys US rs563341344 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710] WARS2 Q9UGM6 VAR_086908 p.Gly50Asp LP/P rs1571323203 Parkinsonism-dystonia 3, childhood-onset (PKDYS3) [MIM:619738] WARS2 Q9UGM6 VAR_086910 p.Ser228Trp LP/P rs1647600390 Parkinsonism-dystonia 3, childhood-onset (PKDYS3) [MIM:619738] WARS2 Q9UGM6 VAR_086911 p.Val278Gly LP/P rs765904496 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710] WAS P42768 VAR_005823 p.Leu27Phe LP/P - Thrombocytopenia 1 (THC1) [MIM:313900] WAS P42768 VAR_005825 p.Glu31Lys LP/P rs1557006239 Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005826 p.Thr48Ile LP/P - Thrombocytopenia 1 (THC1) [MIM:313900] WAS P42768 VAR_005827 p.Ala56Val LP/P rs132630269 Thrombocytopenia 1 (THC1) [MIM:313900] WAS P42768 VAR_005828 p.Val75Met LP/P rs782290433 Thrombocytopenia 1 (THC1) [MIM:313900] WAS P42768 VAR_005829 p.Ser82Pro LP/P rs132630272 Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005830 p.Arg86His LP/P rs132630268 Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005831 p.Arg86Leu LP/P rs132630268 Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005832 p.Arg86Cys LP/P - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005833 p.Trp97Cys LP/P - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005834 p.Glu131Lys LP/P rs146220228 Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005835 p.Glu133Lys LP/P - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005836 p.Gly187Cys LP/P - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005837 p.Ala236Glu LP/P - Thrombocytopenia 1 (THC1) [MIM:313900] WAS P42768 VAR_005838 p.Lys476Glu LP/P - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005839 p.Arg477Lys LP/P - Thrombocytopenia 1 (THC1) [MIM:313900] WAS P42768 VAR_008105 p.Cys43Trp LP/P - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_008106 p.Thr45Met LP/P rs132630273 Thrombocytopenia 1 (THC1) [MIM:313900] WAS P42768 VAR_008106 p.Thr45Met LP/P rs132630273 Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_008107 p.Cys73Arg LP/P - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_008108 p.Tyr83Cys LP/P - Thrombocytopenia 1 (THC1) [MIM:313900] WAS P42768 VAR_008109 p.Phe84Leu LP/P - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_008110 p.Gly89Asp LP/P rs139857045 Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_012710 p.Gln52His LP/P - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_012711 p.Gly70Trp LP/P - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_022806 p.Pro58Leu LP/P - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_022807 p.Ala134Thr LP/P - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_033255 p.Pro58Arg LP/P rs132630275 Thrombocytopenia 1 (THC1) [MIM:313900] WAS P42768 VAR_033256 p.Leu270Pro LP/P rs132630274 Neutropenia, severe congenital, X-linked (XLN) [MIM:300299] WAS P42768 VAR_033257 p.Ile481Asn LP/P rs132630276 Thrombocytopenia 1 (THC1) [MIM:313900] WAS P42768 VAR_074020 p.Ala56Thr US - - WASF3 Q9UPY6 VAR_052953 p.Ser415Leu LB/B rs17084492 - WASHC4 Q2M389 VAR_031417 p.Val323Leu LB/B rs34434425 - WASHC4 Q2M389 VAR_031418 p.Val901Ile LB/B rs1663564 - WASHC4 Q2M389 VAR_057825 p.Thr599Ser LB/B rs1345092 - WASHC4 Q2M389 VAR_071384 p.Pro1019Arg LP/P rs587777411 Intellectual developmental disorder, autosomal recessive 43 (MRT43) [MIM:615817] WASHC5 Q12768 VAR_031955 p.Asn471Asp LP/P rs80338865 Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563] WASHC5 Q12768 VAR_031956 p.Leu619Phe LP/P rs80338866 Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563] WASHC5 Q12768 VAR_031957 p.Val626Phe LP/P rs80338867 Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563] WASHC5 Q12768 VAR_069984 p.Ile226Thr LP/P rs755285830 Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563] WASHC5 Q12768 VAR_069985 p.Gly696Ala LP/P rs397515564 Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563] WASHC5 Q12768 VAR_072417 p.Val620Ala LP/P - Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563] WBP11 Q9Y2W2 VAR_085325 p.Met57Val US rs1949936099 Vertebral, cardiac, tracheoesophageal, renal, and limb defects (VCTRL) [MIM:619227] WBP1L Q9NX94 VAR_026839 p.Ser302Pro LB/B rs284860 - WBP1L Q9NX94 VAR_026840 p.Ala320Ser LB/B rs284859 - WBP2 Q969T9 VAR_079500 p.Ala160Thr LP/P rs202022024 Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639] WBP2 Q969T9 VAR_079501 p.Met163Leu US rs1555604710 Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639] WBP2 Q969T9 VAR_079502 p.Ala224Val US rs1555604549 Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639] WBP2NL Q6ICG8 VAR_032578 p.Gln5Glu LB/B rs17002790 - WBP2NL Q6ICG8 VAR_032579 p.Asp121Gly LB/B rs133335 - WBP2NL Q6ICG8 VAR_032580 p.Cys170Phe LB/B rs17002802 - WBP2NL Q6ICG8 VAR_032581 p.Gln285His LB/B rs2301521 - WBP4 O75554 VAR_036352 p.Lys113Arg US - A breast cancer sample WDCP Q9H6R7 VAR_034834 p.Thr102Met LB/B rs3731620 - WDCP Q9H6R7 VAR_035876 p.Pro454Ser US - A breast cancer sample WDFY3 Q8IZQ1 VAR_026864 p.Ile3032Val LB/B rs17368018 - WDFY3 Q8IZQ1 VAR_079130 p.Arg2637Trp LP/P rs1553924800 Microcephaly 18, primary, autosomal dominant (MCPH18) [MIM:617520] WDFY4 Q6ZS81 VAR_027684 p.Ser214Pro LB/B rs7072606 - WDFY4 Q6ZS81 VAR_027685 p.Ser944Phe LB/B rs12242384 - WDFY4 Q6ZS81 VAR_047261 p.Ser2527Asn LB/B rs2663046 - WDHD1 O75717 VAR_053422 p.Phe338Leu LB/B rs8020032 - WDHD1 O75717 VAR_053423 p.Leu411Pro LB/B rs17128116 - WDHD1 O75717 VAR_062100 p.Glu1102Lys LB/B rs41309252 - WDPCP O95876 VAR_039919 p.Gly268Ser LB/B rs17617459 - WDPCP O95876 VAR_064770 p.Arg55Lys LB/B rs267606693 - WDPCP O95876 VAR_064771 p.Leu205Phe US - - WDPCP O95876 VAR_064772 p.Ser708Phe LB/B - - WDPCP O95876 VAR_073251 p.Asp54Asn LP/P rs200322968 Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP) [MIM:217085] WDR1 O75083 VAR_013445 p.Ile185Val LB/B rs13441 - WDR1 O75083 VAR_084594 p.Asp26Asn US - Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) [MIM:150550] WDR1 O75083 VAR_084595 p.Gly121Arg US - Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) [MIM:150550] WDR1 O75083 VAR_084596 p.His145Gln US - Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) [MIM:150550] WDR1 O75083 VAR_084597 p.Leu286Val US - Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) [MIM:150550] WDR1 O75083 VAR_084598 p.Leu293Phe LP/P - Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) [MIM:150550] WDR1 O75083 VAR_084599 p.Val424Met US - Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) [MIM:150550] WDR1 O75083 VAR_084600 p.Gly501Ser US - Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) [MIM:150550] WDR1 O75083 VAR_084601 p.Asp572Val LP/P - Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) [MIM:150550] WDR11 Q9BZH6 VAR_069194 p.Arg395Trp LP/P rs201051480 Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) [MIM:614858] WDR11 Q9BZH6 VAR_069195 p.Ala435Thr LP/P rs318240760 Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) [MIM:614858] WDR11 Q9BZH6 VAR_069196 p.Arg448Gln LP/P rs144440500 Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) [MIM:614858] WDR11 Q9BZH6 VAR_069197 p.His690Gln LP/P rs318240761 Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) [MIM:614858] WDR11 Q9BZH6 VAR_069198 p.Lys978Gln LB/B rs144531702 - WDR11 Q9BZH6 VAR_069199 p.Phe1150Leu LP/P rs139007744 Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) [MIM:614858] WDR11 Q9BZH6 VAR_080856 p.Pro537Leu LP/P rs761599645 Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) [MIM:614858] WDR12 Q9GZL7 VAR_012863 p.Met72Val LB/B - - WDR12 Q9GZL7 VAR_012864 p.Tyr89Cys LB/B rs751438871 - WDR12 Q9GZL7 VAR_012865 p.Glu286Gly LB/B - - WDR12 Q9GZL7 VAR_054888 p.Ile75Val LB/B rs35212307 - WDR13 Q9H1Z4 VAR_060284 p.Arg325His LB/B rs235842 - WDR17 Q8IZU2 VAR_047399 p.Ala814Thr LB/B rs4690661 - WDR17 Q8IZU2 VAR_047400 p.Cys913Ser LB/B rs7693453 - WDR17 Q8IZU2 VAR_047401 p.Glu952Lys LB/B rs6810394 - WDR17 Q8IZU2 VAR_047402 p.Ala1215Thr LB/B rs17625943 - WDR17 Q8IZU2 VAR_047403 p.Ala1295Thr LB/B rs11736872 - WDR17 Q8IZU2 VAR_062101 p.Ile418Val LB/B rs59567138 - WDR18 Q9BV38 VAR_031577 p.Ala172Thr LB/B rs2158367 - WDR18 Q9BV38 VAR_031578 p.Leu213Phe LB/B rs35068100 - WDR18 Q9BV38 VAR_031579 p.Val264Ile LB/B rs11538683 - WDR19 Q8NEZ3 VAR_053424 p.Gly1084Ser LB/B rs16995209 - WDR19 Q8NEZ3 VAR_067312 p.Leu7Pro LP/P rs387906982 Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5) [MIM:614376] WDR19 Q8NEZ3 VAR_067313 p.Val345Gly LP/P rs387906983 Nephronophthisis 13 (NPHP13) [MIM:614377] WDR19 Q8NEZ3 VAR_067314 p.Leu710Ser LP/P rs387906980 Cranioectodermal dysplasia 4 (CED4) [MIM:614378] WDR19 Q8NEZ3 VAR_067314 p.Leu710Ser LP/P rs387906980 Senior-Loken syndrome 8 (SLSN8) [MIM:616307] WDR19 Q8NEZ3 VAR_073673 p.Ala30Pro LP/P rs776967770 Senior-Loken syndrome 8 (SLSN8) [MIM:616307] WDR19 Q8NEZ3 VAR_073674 p.Val68Asp LP/P rs786204852 Senior-Loken syndrome 8 (SLSN8) [MIM:616307] WDR19 Q8NEZ3 VAR_073675 p.Gly109Glu LP/P rs766029437 Senior-Loken syndrome 8 (SLSN8) [MIM:616307] WDR19 Q8NEZ3 VAR_073676 p.Arg272Cys LP/P rs199812132 Senior-Loken syndrome 8 (SLSN8) [MIM:616307] WDR19 Q8NEZ3 VAR_073677 p.Asp493His LP/P rs587777349 Senior-Loken syndrome 8 (SLSN8) [MIM:616307] WDR19 Q8NEZ3 VAR_073678 p.Arg1178Gln LP/P rs79436363 Senior-Loken syndrome 8 (SLSN8) [MIM:616307] WDR19 Q8NEZ3 VAR_073679 p.Glu1235Lys LP/P rs587777351 Senior-Loken syndrome 8 (SLSN8) [MIM:616307] WDR19 Q8NEZ3 VAR_087243 p.Lys1271Glu US - Spermatogenic failure 72 (SPGF72) [MIM:619867] WDR20 Q8TBZ3 VAR_031580 p.Pro159His LB/B rs17852545 - WDR20 Q8TBZ3 VAR_053425 p.Gly444Cys LB/B rs12888595 - WDR25 Q64LD2 VAR_028888 p.Trp88Arg LB/B rs2181170 - WDR25 Q64LD2 VAR_028889 p.His149Arg LB/B rs2273800 - WDR25 Q64LD2 VAR_060042 p.Lys59Arg LB/B rs2273801 - WDR25 Q64LD2 VAR_060043 p.Thr119Met LB/B rs34331240 - WDR26 Q9H7D7 VAR_079298 p.Trp172Arg US - Skraban-Deardorff syndrome (SKDEAS) [MIM:617616] WDR26 Q9H7D7 VAR_079299 p.Leu215Pro US - Skraban-Deardorff syndrome (SKDEAS) [MIM:617616] WDR26 Q9H7D7 VAR_079300 p.Ser254Arg US rs150512167 Skraban-Deardorff syndrome (SKDEAS) [MIM:617616] WDR26 Q9H7D7 VAR_079302 p.Asp284Asn US rs1553359384 Skraban-Deardorff syndrome (SKDEAS) [MIM:617616] WDR27 A2RRH5 VAR_035317 p.Leu133Pro LB/B rs4236176 - WDR27 A2RRH5 VAR_035318 p.Val393Leu LB/B rs35895089 - WDR27 A2RRH5 VAR_035319 p.Arg437His LB/B rs3800544 - WDR27 A2RRH5 VAR_035320 p.Pro470Leu LB/B rs34313252 - WDR27 A2RRH5 VAR_035321 p.Ala697Val LB/B rs9396946 - WDR3 Q9UNX4 VAR_033809 p.Pro234Ala LB/B rs3738420 - WDR31 Q8NA23 VAR_053426 p.Pro113Ser LB/B rs10817479 - WDR33 Q9C0J8 VAR_046717 p.Ala33Ser LB/B rs11557686 - WDR33 Q9C0J8 VAR_053427 p.Pro711Arg LB/B rs12615078 - WDR35 Q9P2L0 VAR_053428 p.Gln18Arg LB/B rs1060742 - WDR35 Q9P2L0 VAR_053429 p.Glu983Gly LB/B rs1191778 - WDR35 Q9P2L0 VAR_062102 p.Ala878Pro LB/B rs2293669 - WDR35 Q9P2L0 VAR_062103 p.Ala878Thr LB/B rs2293669 - WDR35 Q9P2L0 VAR_064581 p.Glu626Gly LP/P rs267607174 Cranioectodermal dysplasia 2 (CED2) [MIM:613610] WDR35 Q9P2L0 VAR_064582 p.Ala875Thr LP/P rs267607175 Cranioectodermal dysplasia 2 (CED2) [MIM:613610] WDR35 Q9P2L0 VAR_065955 p.Trp261Arg LP/P rs431905505 Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7) [MIM:614091] WDR35 Q9P2L0 VAR_076784 p.Trp311Leu LP/P rs200649783 Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7) [MIM:614091] WDR35 Q9P2L0 VAR_076784 p.Trp311Leu LP/P rs200649783 Short-rib thoracic dysplasia 7/20 with polydactyly, digenic (SRTD7/20) [MIM:614091] WDR35 Q9P2L0 VAR_080632 p.Arg478Lys LP/P rs1558342399 Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7) [MIM:614091] WDR36 Q8NI36 VAR_024700 p.Ile264Val LB/B rs11241095 - WDR36 Q8NI36 VAR_025963 p.Leu25Pro LB/B rs145437203 - WDR36 Q8NI36 VAR_025964 p.Ala163Val LB/B rs62376783 - WDR36 Q8NI36 VAR_025965 p.Tyr216Pro US - Glaucoma 1, open angle, G (GLC1G) [MIM:609887] WDR36 Q8NI36 VAR_025966 p.Asn355Ser LP/P rs118204022 Glaucoma 1, open angle, G (GLC1G) [MIM:609887] WDR36 Q8NI36 VAR_025967 p.Ala449Thr LB/B rs35703638 - WDR36 Q8NI36 VAR_025968 p.Arg529Gln LP/P rs116529882 Glaucoma 1, open angle, G (GLC1G) [MIM:609887] WDR36 Q8NI36 VAR_025969 p.Asp658Gly LB/B rs34595252 - WDR36 Q8NI36 VAR_025970 p.Met671Val LB/B rs11956837 - WDR36 Q8NI36 VAR_053430 p.Glu454Gln LB/B rs17623803 - WDR36 Q8NI36 VAR_077608 p.Pro31Thr LB/B rs148041801 - WDR36 Q8NI36 VAR_077609 p.Asp33Glu LB/B rs35629723 - WDR36 Q8NI36 VAR_077610 p.Tyr97Cys US rs549211166 Glaucoma 1, open angle, G (GLC1G) [MIM:609887] WDR36 Q8NI36 VAR_077611 p.His212Pro LB/B rs142088179 - WDR36 Q8NI36 VAR_077612 p.Thr403Ala US rs771276992 Glaucoma 1, open angle, G (GLC1G) [MIM:609887] WDR36 Q8NI36 VAR_077613 p.His411Leu US - Glaucoma 1, open angle, G (GLC1G) [MIM:609887] WDR36 Q8NI36 VAR_077614 p.His411Tyr US - Glaucoma 1, open angle, G (GLC1G) [MIM:609887] WDR36 Q8NI36 VAR_077615 p.Pro487Arg US rs372059163 Glaucoma 1, open angle, G (GLC1G) [MIM:609887] WDR37 Q9Y2I8 VAR_025432 p.Ile225Val LB/B rs2306407 - WDR37 Q9Y2I8 VAR_070805 p.Ala11Thr LB/B rs17856557 - WDR37 Q9Y2I8 VAR_070806 p.Gln221Lys LB/B rs17856556 - WDR37 Q9Y2I8 VAR_083347 p.Ser119Phe LP/P - Neurooculocardiogenitourinary syndrome (NOCGUS) [MIM:618652] WDR37 Q9Y2I8 VAR_083348 p.Thr125Ile LP/P - Neurooculocardiogenitourinary syndrome (NOCGUS) [MIM:618652] WDR37 Q9Y2I8 VAR_083349 p.Ser129Cys LP/P - Neurooculocardiogenitourinary syndrome (NOCGUS) [MIM:618652] WDR37 Q9Y2I8 VAR_083350 p.Thr130Ile LP/P - Neurooculocardiogenitourinary syndrome (NOCGUS) [MIM:618652] WDR37 Q9Y2I8 VAR_087686 p.Thr115Ile LP/P - Neurooculocardiogenitourinary syndrome (NOCGUS) [MIM:618652] WDR37 Q9Y2I8 VAR_087687 p.Ser119Tyr LP/P - Neurooculocardiogenitourinary syndrome (NOCGUS) [MIM:618652] WDR37 Q9Y2I8 VAR_087688 p.Asp220Gly LP/P - Neurooculocardiogenitourinary syndrome (NOCGUS) [MIM:618652] WDR37 Q9Y2I8 VAR_087689 p.Pro257His US - Neurooculocardiogenitourinary syndrome (NOCGUS) [MIM:618652] WDR37 Q9Y2I8 VAR_087690 p.Asp260Asn LP/P - Neurooculocardiogenitourinary syndrome (NOCGUS) [MIM:618652] WDR38 Q5JTN6 VAR_053431 p.His172Arg LB/B rs2274970 - WDR38 Q5JTN6 VAR_053432 p.Ala193Gly LB/B rs10760381 - WDR4 P57081 VAR_020120 p.Lys71Asn LB/B rs2248490 - WDR4 P57081 VAR_033121 p.Pro266Ser LB/B rs15736 - WDR4 P57081 VAR_033122 p.Arg390Gln LB/B rs6586250 - WDR4 P57081 VAR_081828 p.Asp164Ala US rs1555976610 Galloway-Mowat syndrome 6 (GAMOS6) [MIM:618347] WDR4 P57081 VAR_081829 p.Arg170Leu LP/P - Microcephaly, growth deficiency, seizures, and brain malformations (MIGSB) [MIM:618346] WDR4 P57081 VAR_081830 p.Arg170Gln LP/P rs1292041526 Galloway-Mowat syndrome 6 (GAMOS6) [MIM:618347] WDR4 P57081 VAR_087852 p.His144Pro US - - WDR41 Q9HAD4 VAR_023777 p.Val329Ile LB/B rs33204 - WDR41 Q9HAD4 VAR_031215 p.Gly61Asp LB/B rs389319 - WDR41 Q9HAD4 VAR_031216 p.Arg260Cys LB/B rs17751013 - WDR44 Q5JSH3 VAR_029538 p.Ala289Thr LB/B rs17271416 - WDR44 Q5JSH3 VAR_029539 p.Thr296Ala LB/B rs17855531 - WDR45 Q9Y484 VAR_080430 p.Ala208Asp US - Neurodegeneration with brain iron accumulation 5 (NBIA5) [MIM:300894] WDR46 O15213 VAR_022025 p.Val341Ala LB/B rs14398 - WDR46 O15213 VAR_053433 p.Thr94Ala LB/B rs3130257 - WDR46 O15213 VAR_053434 p.Ser124Tyr LB/B rs34704405 - WDR49 Q8IV35 VAR_027858 p.Leu651Pro LB/B rs13060964 - WDR49 Q8IV35 VAR_035889 p.Arg10His US rs74903439 A colorectal cancer sample WDR5 P61964 VAR_081531 p.Thr208Met US - - WDR53 Q7Z5U6 VAR_033810 p.His338Pro LB/B rs1048032 - WDR53 Q7Z5U6 VAR_035890 p.Ser60Cys US - A breast cancer sample WDR55 Q9H6Y2 VAR_037056 p.Arg50Cys LB/B rs34342435 - WDR55 Q9H6Y2 VAR_037057 p.Cys151Arg LB/B rs2530245 - WDR55 Q9H6Y2 VAR_037058 p.Ser210Phe LB/B rs2286394 - WDR55 Q9H6Y2 VAR_037059 p.Tyr235Cys LB/B rs35983033 - WDR59 Q6PJI9 VAR_053436 p.Pro201Thr LB/B rs11557260 - WDR62 O43379 VAR_031299 p.Leu850Ser LB/B rs2285745 - WDR62 O43379 VAR_031300 p.Gly1370Ser LB/B rs17851503 - WDR62 O43379 VAR_031301 p.Leu1385Phe LB/B rs1008328 - WDR62 O43379 VAR_055014 p.Lys289Arg LB/B rs12327568 - WDR62 O43379 VAR_055015 p.Gln1305Leu LB/B rs2074435 - WDR62 O43379 VAR_057629 p.Gln1311Glu LB/B rs35811023 - WDR62 O43379 VAR_063702 p.Trp224Ser LP/P rs267607176 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317] WDR62 O43379 VAR_063703 p.Glu526Lys LP/P rs147875659 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317] WDR62 O43379 VAR_065843 p.Val65Met LP/P rs387907084 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317] WDR62 O43379 VAR_065844 p.Arg438His LP/P rs387907082 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317] WDR62 O43379 VAR_065845 p.Asp511Asn LP/P rs387907083 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317] WDR64 B1ANS9 VAR_043138 p.Arg647Gln LB/B rs12095445 - WDR64 B1ANS9 VAR_043139 p.Arg952Trp LB/B rs12074374 - WDR72 Q3MJ13 VAR_026837 p.Leu819Phe LB/B rs17730281 - WDR72 Q3MJ13 VAR_026838 p.Ser833Ala LB/B rs16966320 - WDR72 Q3MJ13 VAR_057633 p.Lys399Gln LB/B rs35258188 - WDR72 Q3MJ13 VAR_057634 p.Gln479His LB/B rs34123953 - WDR72 Q3MJ13 VAR_060045 p.Met100Val LB/B rs690346 - WDR72 Q3MJ13 VAR_062106 p.Lys781Glu LB/B rs60404950 - WDR73 Q6P4I2 VAR_035399 p.Arg249His LB/B rs11073619 - WDR76 Q9H967 VAR_026862 p.Ser153Ala LB/B rs678084 - WDR76 Q9H967 VAR_026863 p.Ser614Gly LB/B rs3742985 - WDR77 Q9BQA1 VAR_042903 p.Ser48Ile LB/B rs7416672 - WDR81 Q562E7 VAR_062107 p.Met1535Val LB/B rs3809870 - WDR81 Q562E7 VAR_068220 p.Pro856Leu LP/P rs587776906 Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 (CAMRQ2) [MIM:610185] WDR81 Q562E7 VAR_081120 p.Gly282Glu US rs730882206 Hydrocephalus, congenital, 3, with brain anomalies (HYC3) [MIM:617967] WDR83 Q9BRX9 VAR_053410 p.Gly278Ser LB/B rs34373915 - WDR83 Q9BRX9 VAR_053411 p.Arg304Gln LB/B rs35092999 - WDR83OS Q9Y284 VAR_052498 p.Pro104Ala LB/B rs3209404 - WDR86 Q86TI4 VAR_063633 p.Met355Thr LB/B rs4141455 - WDR87 Q6ZQQ6 VAR_057638 p.His496Tyr LB/B rs12104280 - WDR87 Q6ZQQ6 VAR_057639 p.Arg1583Gln LB/B rs6508750 - WDR87 Q6ZQQ6 VAR_057640 p.Asn1885Lys LB/B rs10422056 - WDR87 Q6ZQQ6 VAR_057641 p.His2570Leu LB/B rs10408510 - WDR88 Q6ZMY6 VAR_032030 p.Cys310Arg LB/B rs11881580 - WDR88 Q6ZMY6 VAR_035892 p.Asp166His US - A breast cancer sample WDR90 Q96KV7 VAR_044060 p.Ser165Thr LB/B rs13337278 - WDR90 Q96KV7 VAR_044061 p.Pro250Leu LB/B rs11642546 - WDR90 Q96KV7 VAR_044062 p.Val537Ala LB/B rs3803697 - WDR90 Q96KV7 VAR_044063 p.Pro1001Thr LB/B rs4984906 - WDR90 Q96KV7 VAR_044064 p.Arg1492His LB/B rs7190775 - WDR90 Q96KV7 VAR_044065 p.Cys1555Arg LB/B rs11866949 - WDR91 A4D1P6 VAR_033358 p.Pro257Leu LB/B rs292592 - WDR93 Q6P2C0 VAR_039017 p.Leu66His LB/B rs4287542 - WDR93 Q6P2C0 VAR_039018 p.Ser254Thr LB/B rs7163367 - WDR93 Q6P2C0 VAR_039019 p.Thr352Met LB/B rs7178234 - WDR97 A6NE52 VAR_043029 p.Arg149Gly LB/B rs4977196 - WDR97 A6NE52 VAR_043030 p.His427Gln LB/B rs34324679 - WDR97 A6NE52 VAR_043031 p.Glu537Gly LB/B rs13250446 - WDSUB1 Q8N9V3 VAR_030791 p.Lys215Thr LB/B rs16843852 - WDSUB1 Q8N9V3 VAR_030792 p.His223Asp LB/B rs17852677 - WDSUB1 Q8N9V3 VAR_030793 p.Arg320Ser LB/B rs7591849 - WEE1 P30291 VAR_041302 p.Gly210Cys LB/B rs34412975 - WEE1 P30291 VAR_041303 p.Ser472Ile LB/B rs56411856 - WEE2 P0C1S8 VAR_041304 p.Lys8Thr LB/B rs35672788 - WEE2 P0C1S8 VAR_041305 p.Asn332Lys US - A gastric adenocarcinoma sample WEE2 P0C1S8 VAR_041306 p.Arg398His US rs200610853 An ovarian mucinous carcinoma sample WEE2 P0C1S8 VAR_041307 p.Asp470Glu LB/B rs55901099 - WEE2 P0C1S8 VAR_041308 p.Tyr526Asp LB/B rs35683659 - WEE2 P0C1S8 VAR_080992 p.Asp234His LP/P rs1554415096 Oocyte/zygote/embryo maturation arrest 5 (OZEMA5) [MIM:617996] WFDC1 Q9HC57 VAR_036489 p.Val138Met US rs11643870 A breast cancer sample WFDC1 Q9HC57 VAR_052948 p.Leu196Val LB/B rs35504166 - WFDC1 Q9HC57 VAR_052949 p.Lys217Arg LB/B rs12933084 - WFDC10B Q8IUB3 VAR_052952 p.Leu8Pro LB/B rs232729 - WFDC3 Q8IUB2 VAR_052951 p.His36Asp LB/B rs6032538 - WFDC3 Q8IUB2 VAR_059962 p.Gly198Ser LB/B rs6073907 - WFDC5 Q8TCV5 VAR_057474 p.His97Tyr LB/B rs17422688 - WFDC8 Q8IUA0 VAR_021910 p.Met96Thr LB/B rs2272955 - WFDC8 Q8IUA0 VAR_030861 p.Asn137Ser LB/B rs2250860 - WFDC9 Q8NEX5 VAR_021911 p.Asn27Thr LB/B rs2245898 - WFIKKN2 Q8TEU8 VAR_036692 p.Val96Met LB/B rs35300894 - WFIKKN2 Q8TEU8 VAR_061984 p.Arg31Gln LB/B rs55700534 - WFS1 O76024 VAR_005840 p.Val333Ile LB/B rs1801212 - WFS1 O76024 VAR_005841 p.Arg456His LB/B rs1801208 - WFS1 O76024 VAR_005842 p.Pro504Leu LP/P rs28937892 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_005843 p.Arg611His LB/B rs734312 - WFS1 O76024 VAR_005844 p.Gly695Val LP/P rs28937891 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_005845 p.Pro724Leu LP/P rs28937890 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_009109 p.Glu169Lys LP/P rs148953711 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_009110 p.Pro292Ser LP/P rs746923441 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_009111 p.Ile296Ser LP/P - Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_009114 p.Gly437Arg LP/P rs147974629 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_009116 p.Cys690Arg LP/P rs754373473 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_009117 p.Trp700Cys LP/P - Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_009118 p.Gly736Ser LP/P rs71532864 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_009119 p.Pro885Leu LP/P rs372855769 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_010602 p.Ala559Thr LB/B rs55814513 - WFS1 O76024 VAR_010603 p.Gly576Ser LB/B rs1805069 - WFS1 O76024 VAR_010604 p.Ile720Val LB/B rs1805070 - WFS1 O76024 VAR_011305 p.Ala58Val LP/P rs369671890 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_011306 p.Ala126Thr LP/P rs145639028 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_011308 p.Ser443Ile LP/P - Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_011309 p.Gly674Arg LB/B rs200672755 - WFS1 O76024 VAR_011310 p.Ala684Val LP/P rs387906930 Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296] WFS1 O76024 VAR_011311 p.Arg708Cys LB/B rs200099217 - WFS1 O76024 VAR_011312 p.Glu737Lys LB/B rs147834269 - WFS1 O76024 VAR_011313 p.Gly780Arg LP/P - Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_011314 p.Arg818Cys LP/P rs35932623 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_014034 p.Ala133Thr LP/P rs372249044 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_014037 p.Arg653Cys US rs201064551 Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_014038 p.Tyr669Cys LP/P rs1402999203 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_014995 p.Lys193Gln LB/B rs41264699 - WFS1 O76024 VAR_014996 p.Val871Met LB/B rs71532874 - WFS1 O76024 VAR_024554 p.Ala602Val LB/B rs2230720 - WFS1 O76024 VAR_029499 p.Tyr110Asn LP/P - Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_029500 p.Ala326Val LB/B rs369795224 - WFS1 O76024 VAR_029502 p.Arg457Ser LP/P rs113446173 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_029505 p.Arg629Trp LP/P rs71530910 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_029506 p.Ile802Val LB/B rs746922325 - WFS1 O76024 VAR_032791 p.Pro16Leu LB/B rs34653805 - WFS1 O76024 VAR_032962 p.Gly107Arg LB/B - - WFS1 O76024 VAR_032963 p.Lys634Thr LP/P rs104893882 Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_032964 p.Thr699Met LP/P rs28937894 Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_032965 p.Ala716Thr LP/P rs28937893 Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_032966 p.Val779Met LP/P rs141328044 Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_032967 p.Leu829Pro LP/P rs104893883 Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_032968 p.Gly831Asp LP/P rs28937895 Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_032969 p.Glu864Lys LP/P rs74315205 Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296] WFS1 O76024 VAR_068343 p.Arg558Cys LP/P rs199946797 Wolfram syndrome 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_068344 p.Gly780Ser LP/P rs387906931 Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296] WFS1 O76024 VAR_068345 p.Asp797Tyr LP/P - Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296] WFS1 O76024 VAR_068346 p.Lys836Asn LP/P rs876657675 Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296] WFS1 O76024 VAR_068347 p.Arg859Gln LP/P rs121912618 Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_070935 p.Glu462Gly LP/P rs398123066 Cataract 41 (CTRCT41) [MIM:116400] WFS1 O76024 VAR_074210 p.Asp171Asn LP/P rs758281375 Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_074211 p.Tyr669His LP/P - Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_074212 p.Arg685Pro LP/P rs142668478 Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_074213 p.His696Tyr LP/P - Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_074214 p.Arg703His LP/P rs1323852277 Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] WHAMM Q8TF30 VAR_033209 p.Gln340Lys LB/B rs1055666 - WHAMM Q8TF30 VAR_033210 p.Arg345Gln LB/B rs1055667 - WHAMM Q8TF30 VAR_033211 p.Arg686His LB/B rs3814281 - WHAMM Q8TF30 VAR_051489 p.His736Pro LB/B rs11259953 - WHAMM Q8TF30 VAR_051490 p.His736Gln LB/B rs11259954 - WHAMM Q8TF30 VAR_061721 p.Asn212Ser LB/B rs35270670 - WHRN Q9P202 VAR_020593 p.Ala440Thr LB/B rs4978584 - WHRN Q9P202 VAR_020594 p.Val783Ala LB/B rs2274159 - WHRN Q9P202 VAR_020595 p.Asn796Lys LB/B rs2274158 - WHRN Q9P202 VAR_020596 p.Thr813Met LB/B rs143728180 - WHRN Q9P202 VAR_036684 p.His364Arg LB/B rs10817610 - WHRN Q9P202 VAR_036685 p.Arg423Pro LB/B rs35003670 - WHRN Q9P202 VAR_036686 p.Pro562Ala LB/B rs12339210 - WHRN Q9P202 VAR_036687 p.Met613Thr LB/B rs942519 - WHRN Q9P202 VAR_036688 p.Gln752His LB/B rs6478078 - WHRN Q9P202 VAR_057029 p.Ala443Ser LB/B rs11539662 - WIPF1 O43516 VAR_010295 p.Ala495Gly LB/B - - WIPF1 O43516 VAR_046526 p.Pro198Leu LB/B rs4972450 - WIPF3 A6NGB9 VAR_043729 p.Glu321Gly LB/B rs3750092 - WIPI1 Q5MNZ9 VAR_024848 p.Thr31Ile LB/B rs883541 - WIPI1 Q5MNZ9 VAR_053439 p.Arg308His LB/B rs36084378 - WIPI2 Q9Y4P8 VAR_082589 p.Val249Met LP/P rs756429763 Intellectual developmental disorder with short stature and variable skeletal anomalies (IDDSSA) [MIM:618453] WLS Q5T9L3 VAR_029991 p.Val465Ile LB/B rs983034 - WLS Q5T9L3 VAR_086565 p.Tyr392Cys LP/P - Zaki syndrome (ZKS) [MIM:619648] WLS Q5T9L3 VAR_086566 p.Tyr478Cys LP/P rs985347096 Zaki syndrome (ZKS) [MIM:619648] WLS Q5T9L3 VAR_086567 p.Ile531Thr LP/P - Zaki syndrome (ZKS) [MIM:619648] WLS Q5T9L3 VAR_086568 p.Arg536Cys LP/P rs773311381 Zaki syndrome (ZKS) [MIM:619648] WNK1 Q9H4A3 VAR_019992 p.Thr665Ile LB/B rs2286007 - WNK1 Q9H4A3 VAR_035640 p.Glu1199Gly US - A colorectal cancer sample WNK1 Q9H4A3 VAR_035641 p.Gln1799Glu US - Breast cancer samples WNK1 Q9H4A3 VAR_041309 p.Ala141Thr LB/B rs11554421 - WNK1 Q9H4A3 VAR_041310 p.Ala149Val LB/B rs34880640 - WNK1 Q9H4A3 VAR_041311 p.Glu419Gln US - A breast pleomorphic lobular carcinoma sample WNK1 Q9H4A3 VAR_041312 p.Ile509Thr LB/B rs34728563 - WNK1 Q9H4A3 VAR_041313 p.Asp527Gly LB/B rs34408667 - WNK1 Q9H4A3 VAR_041314 p.Thr674Ala LB/B rs11833299 - WNK1 Q9H4A3 VAR_041315 p.His823Arg LB/B rs56015776 - WNK1 Q9H4A3 VAR_041316 p.Ala1546Val LB/B rs56351358 - WNK1 Q9H4A3 VAR_041317 p.Met1808Ile LB/B rs12828016 - WNK1 Q9H4A3 VAR_041318 p.Pro1823Leu LB/B rs17755373 - WNK1 Q9H4A3 VAR_041319 p.Arg1957His LB/B rs36083875 - WNK1 Q9H4A3 VAR_041320 p.Ser2190Cys US - A breast pleomorphic lobular carcinoma sample WNK1 Q9H4A3 VAR_041321 p.Phe2362Leu US - A lung adenocarcinoma sample WNK1 Q9H4A3 VAR_041322 p.Arg2380Trp LB/B rs56262445 - WNK1 Q9H4A3 VAR_059033 p.Thr1056Pro LB/B rs956868 - WNK1 Q9H4A3 VAR_059034 p.Cys1506Ser LB/B rs7955371 - WNK2 Q9Y3S1 VAR_057114 p.Val828Met LB/B rs10761203 - WNK2 Q9Y3S1 VAR_059773 p.Arg974Leu LB/B rs10114908 - WNK3 Q9BYP7 VAR_041323 p.Gln704His LB/B rs56077971 - WNK3 Q9BYP7 VAR_041324 p.Ser854Cys US - A lung squamous cell carcinoma sample WNK3 Q9BYP7 VAR_041325 p.Ala998Thr LB/B rs56404148 - WNK3 Q9BYP7 VAR_041326 p.Lys1169Glu LB/B rs55903619 - WNK3 Q9BYP7 VAR_041327 p.Thr1375Ile LB/B rs55879434 - WNK3 Q9BYP7 VAR_041328 p.Leu1533Phe US - A lung large cell carcinoma sample WNK3 Q9BYP7 VAR_041329 p.Ser1634Pro US - A renal clear cell carcinoma sample WNK4 Q96J92 VAR_017588 p.Glu562Lys LP/P rs137853093 Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] WNK4 Q96J92 VAR_017589 p.Asp564Ala LP/P rs137853094 Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] WNK4 Q96J92 VAR_017590 p.Gln565Glu LP/P rs137853092 Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] WNK4 Q96J92 VAR_017591 p.Arg1185Cys LP/P rs137853095 Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] WNK4 Q96J92 VAR_041330 p.Glu434Asp US - An ovarian mucinous carcinoma sample WNK4 Q96J92 VAR_041331 p.Pro813Leu LB/B - - WNK4 Q96J92 VAR_041332 p.Pro992Ser US - A metastatic melanoma sample WNK4 Q96J92 VAR_041333 p.Leu1013Pro LB/B - - WNK4 Q96J92 VAR_051685 p.Arg677Trp LB/B rs9896991 - WNK4 Q96J92 VAR_051686 p.Pro961Ser LB/B rs2290041 - WNK4 Q96J92 VAR_061748 p.Ala601Ser LB/B rs55781437 - WNT1 P04628 VAR_069627 p.Cys143Phe LP/P - Osteogenesis imperfecta 15 (OI15) [MIM:615220] WNT1 P04628 VAR_069628 p.Gly177Cys LP/P - Osteogenesis imperfecta 15 (OI15) [MIM:615220] WNT1 P04628 VAR_069629 p.Cys218Gly LP/P rs397514702 Osteoporosis (OSTEOP) [MIM:166710] WNT1 P04628 VAR_069630 p.Arg235Trp LP/P rs387907359 Osteoporosis (OSTEOP) [MIM:166710] WNT1 P04628 VAR_069631 p.Phe298Cys LP/P - Osteogenesis imperfecta 15 (OI15) [MIM:615220] WNT1 P04628 VAR_069632 p.Val355Phe LP/P rs387907358 Osteogenesis imperfecta 15 (OI15) [MIM:615220] WNT1 P04628 VAR_079407 p.Glu123Asp LP/P - Osteogenesis imperfecta 15 (OI15) [MIM:615220] WNT1 P04628 VAR_079408 p.Cys153Gly LP/P - Osteogenesis imperfecta 15 (OI15) [MIM:615220] WNT10A Q9GZT5 VAR_013239 p.Pro302Thr LB/B rs1057306 - WNT10A Q9GZT5 VAR_062510 p.Arg128Gln LP/P rs121908121 Odonto-onycho-dermal dysplasia (OODD) [MIM:257980] WNT10A Q9GZT5 VAR_062510 p.Arg128Gln LP/P rs121908121 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_062511 p.Phe228Ile LP/P rs121908120 Odonto-onycho-dermal dysplasia (OODD) [MIM:257980] WNT10A Q9GZT5 VAR_062511 p.Phe228Ile LP/P rs121908120 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_064837 p.His143Tyr US rs202024965 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_064838 p.Val145Met US rs543063101 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_064839 p.Arg360Cys US - - WNT10A Q9GZT5 VAR_069171 p.Glu95Lys LP/P rs318240759 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_069172 p.Arg163Trp US rs368280129 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_069173 p.Asp217Asn US rs146902156 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_069174 p.Trp277Cys LP/P rs1234227647 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_069175 p.Asn306Lys US rs745513263 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_077446 p.Gly126Ser US rs1245189224 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_077447 p.Ala131Thr LP/P rs372993798 Schopf-Schulz-Passarge syndrome (SSPS) [MIM:224750] WNT10A Q9GZT5 VAR_077448 p.Ala131Val LP/P - Odonto-onycho-dermal dysplasia (OODD) [MIM:257980] WNT10A Q9GZT5 VAR_077449 p.Arg171Cys US rs116998555 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_077450 p.Gly213Ser US rs147680216 Odonto-onycho-dermal dysplasia (OODD) [MIM:257980] WNT10A Q9GZT5 VAR_077450 p.Gly213Ser US rs147680216 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_077451 p.Gly266Cys LP/P - Schopf-Schulz-Passarge syndrome (SSPS) [MIM:224750] WNT10A Q9GZT5 VAR_077452 p.Gly266Ser US rs778752861 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_077453 p.Gly356Cys US - Odonto-onycho-dermal dysplasia (OODD) [MIM:257980] WNT10A Q9GZT5 VAR_077454 p.Thr357Ile US rs750190755 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_077455 p.Arg379Cys US rs1347556761 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_079418 p.Arg70Trp US rs146460077 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_079420 p.Arg113Cys US rs141074983 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_079421 p.Arg223Cys US rs149245953 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_086718 p.Ser292Gly US rs767665930 - WNT10A Q9GZT5 VAR_086719 p.Arg293Cys US rs563548971 Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] WNT10A Q9GZT5 VAR_086721 p.Arg348Cys US rs978088338 - WNT10B O00744 VAR_062512 p.His77Tyr LB/B rs151284263 - WNT10B O00744 VAR_062513 p.Cys256Tyr US - - WNT10B O00744 VAR_062514 p.Ile285Thr LB/B rs146010731 - WNT10B O00744 VAR_062515 p.Pro301Ser LB/B rs35034312 - WNT10B O00744 VAR_062516 p.Arg332Trp LP/P rs121918349 Split-hand/foot malformation 6 (SHFM6) [MIM:225300] WNT10B O00744 VAR_076926 p.Arg211Gln LP/P rs779326570 Tooth agenesis, selective, 8 (STHAG8) [MIM:617073] WNT16 Q9UBV4 VAR_036289 p.Val126Met US - A colorectal cancer sample WNT16 Q9UBV4 VAR_052957 p.Gly82Arg LB/B rs2908004 - WNT16 Q9UBV4 VAR_052958 p.Thr263Ile LB/B rs2707466 - WNT2 P09544 VAR_013865 p.Leu5Arg LB/B rs145839592 - WNT2 P09544 VAR_013866 p.Arg299Trp LB/B rs148046128 - WNT2 P09544 VAR_052954 p.Cys294Phe LB/B rs1051751 - WNT4 P56705 VAR_034703 p.Glu216Gly LP/P rs121908650 Mullerian aplasia and hyperandrogenism (MULLAPL) [MIM:158330] WNT4 P56705 VAR_043497 p.Leu12Pro LP/P rs121908653 Mullerian aplasia and hyperandrogenism (MULLAPL) [MIM:158330] WNT4 P56705 VAR_043498 p.Arg83Cys LP/P - Mullerian aplasia and hyperandrogenism (MULLAPL) [MIM:158330] WNT4 P56705 VAR_043499 p.Ala114Val LP/P rs121908651 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812] WNT4 P56705 VAR_052955 p.Pro277Leu LB/B rs34228276 - WNT5A P41221 VAR_066623 p.Cys83Ser LP/P rs786200925 Robinow syndrome, autosomal dominant 1 (DRS1) [MIM:180700] WNT5A P41221 VAR_066629 p.Cys182Arg LP/P rs387906663 Robinow syndrome, autosomal dominant 1 (DRS1) [MIM:180700] WNT5A P41221 VAR_083248 p.Ser160Cys US - Robinow syndrome, autosomal dominant 1 (DRS1) [MIM:180700] WNT7A O00755 VAR_030673 p.Ala109Thr LP/P rs104893832 Fuhrmann syndrome (FUHRS) [MIM:228930] WNT7A O00755 VAR_030674 p.Arg292Cys LP/P rs104893835 Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820] WNT7A O00755 VAR_064480 p.Arg222Trp LP/P rs397514643 Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820] WNT7A O00755 VAR_065765 p.Glu72Lys LP/P rs397514666 Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820] WNT7A O00755 VAR_077340 p.Arg102Trp US rs879255548 Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820] WNT8B Q93098 VAR_020310 p.Cys11Ser LB/B rs3793771 - WNT8B Q93098 VAR_036288 p.Glu53Gln US - A colorectal cancer sample WNT9A O14904 VAR_052956 p.Ala260Thr LB/B rs8192633 - WNT9B O14905 VAR_030839 p.Met106Thr LB/B rs4968281 - WRAP53 Q9BUR4 VAR_026865 p.Pro11Ser LB/B rs17880282 - WRAP53 Q9BUR4 VAR_026866 p.Arg68Gly LB/B rs2287499 - WRAP53 Q9BUR4 VAR_026867 p.Ala522Gly LB/B rs7640 - WRAP53 Q9BUR4 VAR_057618 p.Pro136Arg LB/B rs34067256 - WRAP53 Q9BUR4 VAR_057619 p.Asn187Thr LB/B rs35762939 - WRAP53 Q9BUR4 VAR_057620 p.Glu494Gln LB/B rs35123152 - WRAP53 Q9BUR4 VAR_065873 p.Phe164Leu LP/P rs281865547 Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988] WRAP53 Q9BUR4 VAR_065874 p.His376Tyr LP/P rs281865549 Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988] WRAP53 Q9BUR4 VAR_065875 p.Arg398Trp LP/P rs281865548 Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988] WRAP53 Q9BUR4 VAR_065876 p.Gly435Arg LP/P rs281865550 Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988] WRAP73 Q9P2S5 VAR_057624 p.Ile331Met LB/B rs2760320 - WRAP73 Q9P2S5 VAR_057625 p.Val358Ile LB/B rs16823940 - WRN Q14191 VAR_006904 p.Thr324Ala LB/B rs1800390 - WRN Q14191 VAR_006905 p.Met387Ile LB/B rs1800391 - WRN Q14191 VAR_006906 p.Cys1367Arg LB/B rs1346044 - WRN Q14191 VAR_007903 p.Leu1074Phe LB/B rs1801195 - WRN Q14191 VAR_014913 p.Arg834Cys LB/B rs3087425 - WRN Q14191 VAR_014914 p.Ser1079Leu LB/B rs3087414 - WRN Q14191 VAR_017453 p.Lys32Arg LB/B rs34477820 - WRN Q14191 VAR_017454 p.Val114Ile LB/B rs2230009 - WRN Q14191 VAR_017455 p.Thr172Pro LB/B rs367991517 - WRN Q14191 VAR_017456 p.Asn240Lys LB/B rs148229804 - WRN Q14191 VAR_017457 p.Leu383Trp LB/B - - WRN Q14191 VAR_017458 p.Gln724Leu LB/B - - WRN Q14191 VAR_017459 p.Lys1269Glu LB/B rs746648510 - WRN Q14191 VAR_018941 p.Glu343Lys LB/B rs11574222 - WRN Q14191 VAR_018942 p.Asn533Ser LB/B rs11574240 - WRN Q14191 VAR_018943 p.Ser612Cys LB/B rs11574250 - WRN Q14191 VAR_018944 p.Ser708Phe LB/B rs11574289 - WRN Q14191 VAR_018945 p.Ile912Ser LB/B rs11574323 - WRN Q14191 VAR_018946 p.Ser1133Ala LB/B rs11574358 - WRN Q14191 VAR_018947 p.Val1339Ile LB/B rs11574395 - WRN Q14191 VAR_020450 p.Gln329Arg LB/B rs4987237 - WRN Q14191 VAR_020451 p.Leu383Phe LB/B rs4987238 - WRN Q14191 VAR_026588 p.Lys125Asn LP/P rs387906337 Werner syndrome (WRN) [MIM:277700] WRN Q14191 VAR_026589 p.Lys135Glu LP/P rs267607008 Werner syndrome (WRN) [MIM:277700] WRN Q14191 VAR_036318 p.Gly92Val US - A colorectal cancer sample WRN Q14191 VAR_054162 p.Ser1141Leu LB/B rs139323683 - WRN Q14191 VAR_057124 p.Arg711Trp LB/B rs34560788 - WSB1 Q9Y6I7 VAR_024701 p.Leu16Ser LB/B rs6561 - WSCD1 Q658N2 VAR_035160 p.His212Tyr LB/B rs17855415 - WSCD2 Q2TBF2 VAR_035161 p.Thr266Ile LB/B rs3764002 - WT1 P19544 VAR_007739 p.Pro181Ser LP/P rs2234584 Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_007740 p.Ser223Asn LP/P - Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_007741 p.Gly253Ala LP/P - Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_007742 p.Ser273Gly LB/B rs121907908 - WT1 P19544 VAR_007743 p.Cys330Tyr LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_007744 p.Cys360Gly LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_007745 p.Arg366Cys LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_007745 p.Arg366Cys LP/P - Meacham syndrome (MEACHS) [MIM:608978] WT1 P19544 VAR_007745 p.Arg366Cys LP/P - Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_007746 p.Arg366His LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_007746 p.Arg366His LP/P - Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_007747 p.His373Gln LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_007747 p.His373Gln LP/P - Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_007748 p.His377Tyr LP/P - Nephrotic syndrome 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_007749 p.Phe383Leu LP/P - Nephrotic syndrome 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_007750 p.Arg394Trp LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_007750 p.Arg394Trp LP/P - Meacham syndrome (MEACHS) [MIM:608978] WT1 P19544 VAR_007750 p.Arg394Trp LP/P - Nephrotic syndrome 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_007750 p.Arg394Trp LP/P - Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_007751 p.Asp396Asn LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_007751 p.Asp396Asn LP/P - Nephrotic syndrome 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_007752 p.Asp396Gly LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_015053 p.Arg312Gln LP/P - Nephrotic syndrome 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_015054 p.Met342Arg LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_015055 p.Cys355Tyr LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_015056 p.His373Tyr LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_015057 p.His377Arg LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_015058 p.Cys385Arg LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_015059 p.Cys388Phe LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_015060 p.Phe392Leu LP/P - Frasier syndrome (FS) [MIM:136680] WT1 P19544 VAR_015061 p.Arg394Gln LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_015061 p.Arg394Gln LP/P - Nephrotic syndrome 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_015062 p.Leu398Pro LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_043798 p.Ala131Thr US - - WT1 P19544 VAR_043799 p.Cys355Gly LP/P - Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_043800 p.Cys360Tyr LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_043801 p.Phe364Leu LP/P - Nephrotic syndrome 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_043802 p.Arg366Leu LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_043803 p.Gln369Pro LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_043804 p.Gly379Cys LP/P - Nephrotic syndrome 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_043805 p.Cys388Arg LP/P - Nephrotic syndrome 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_043806 p.Cys388Tyr LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_043807 p.Arg394Leu LP/P - Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_043808 p.Arg394Pro LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_043809 p.Asp396Tyr LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_043810 p.His397Pro LP/P - Nephrotic syndrome 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_043811 p.His401Tyr LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_043812 p.His405Arg LP/P - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_058021 p.Leu281Pro US - - WT1-AS Q06250 VAR_014631 p.Ala13Thr LB/B rs6508 - WT1-AS Q06250 VAR_034563 p.Gly66Ala LB/B rs3087923 - WTAP Q15007 VAR_036854 p.Glu84Asp LB/B rs35059844 - WWC1 Q8IX03 VAR_026844 p.Arg250Cys LB/B rs17551608 - WWC1 Q8IX03 VAR_053449 p.Met734Ile LB/B rs3822660 - WWC1 Q8IX03 VAR_053450 p.Ser735Ala LB/B rs3822659 - WWC2 Q6AWC2 VAR_036965 p.Ala773Ser LB/B rs11941467 - WWC2 Q6AWC2 VAR_036966 p.Val816Phe LB/B rs11734376 - WWC2 Q6AWC2 VAR_036967 p.Asp904His LB/B rs3814422 - WWC2 Q6AWC2 VAR_036968 p.Ala1189Thr LB/B rs4862155 - WWC2 Q6AWC2 VAR_062108 p.Arg979Cys LB/B rs45470696 - WWC3 Q9ULE0 VAR_036969 p.Ala619Thr LB/B rs5934750 - WWC3 Q9ULE0 VAR_036970 p.Tyr717Cys LB/B rs36076296 - WWC3 Q9ULE0 VAR_062109 p.Pro955Leu LB/B rs55787431 - WWOX Q9NZC7 VAR_023916 p.Pro98Leu LB/B rs144601717 - WWOX Q9NZC7 VAR_023917 p.Thr111Ser US rs114755364 A Burkitt lymphoma cell line WWOX Q9NZC7 VAR_023918 p.Arg120Trp US rs141361080 A histiocytic lymphoma cell line WWOX Q9NZC7 VAR_023918 p.Arg120Trp US rs141361080 A primary colorectal tumor WWOX Q9NZC7 VAR_023919 p.Ala179Thr LB/B rs11545029 - WWOX Q9NZC7 VAR_023920 p.Leu272Phe LB/B rs186745328 - WWOX Q9NZC7 VAR_023921 p.Pro282Ala LB/B rs3764340 - WWOX Q9NZC7 VAR_023922 p.Leu291Pro LB/B rs119487098 - WWOX Q9NZC7 VAR_023923 p.Arg314His LB/B rs73572838 - WWOX Q9NZC7 VAR_052323 p.Leu216Val LB/B rs7201683 - WWOX Q9NZC7 VAR_070992 p.Pro47Thr LP/P rs587777128 Spinocerebellar ataxia, autosomal recessive, 12 (SCAR12) [MIM:614322] WWOX Q9NZC7 VAR_070993 p.Gly372Arg LP/P rs587777127 Spinocerebellar ataxia, autosomal recessive, 12 (SCAR12) [MIM:614322] WWOX Q9NZC7 VAR_072351 p.Pro47Arg LP/P rs730880292 Developmental and epileptic encephalopathy 28 (DEE28) [MIM:616211] XAB2 Q9HCS7 VAR_016248 p.Val126Ile LB/B rs4134822 - XAB2 Q9HCS7 VAR_016249 p.Arg454Gln LB/B rs4134850 - XAB2 Q9HCS7 VAR_016250 p.Ala702Thr LB/B rs4134865 - XAF1 Q6GPH4 VAR_042616 p.Glu85Gly LB/B rs34195599 - XAF1 Q6GPH4 VAR_042617 p.Arg132His LB/B rs2271232 - XAF1 Q6GPH4 VAR_042618 p.Glu188Lys LB/B rs34625877 - XAF1 Q6GPH4 VAR_042619 p.Arg219Ile LB/B rs3736433 - XBP1 P17861 VAR_033023 p.Arg232Lys US rs1379560430 A breast cancer sample XBP1 P17861 VAR_035998 p.Asp12Val US - A breast cancer sample XCL2 Q9UBD3 VAR_048713 p.His28Asp LB/B rs4301615 - XCL2 Q9UBD3 VAR_059212 p.Arg29Lys LB/B rs4501820 - XDH P47989 VAR_023976 p.Glu133Lys LB/B rs45447191 - XDH P47989 VAR_023977 p.Gly172Arg LB/B rs45523133 - XDH P47989 VAR_023978 p.Thr235Met LB/B rs45469499 - XDH P47989 VAR_023979 p.Lys395Met LB/B rs34929837 - XDH P47989 VAR_023980 p.Pro555Ser LB/B rs45577338 - XDH P47989 VAR_023981 p.Asp584Ala LB/B rs45491693 - XDH P47989 VAR_023982 p.Arg607Gln LB/B rs45442092 - XDH P47989 VAR_023983 p.Lys617Asn LB/B rs45442398 - XDH P47989 VAR_023984 p.Thr623Ile LB/B rs45448694 - XDH P47989 VAR_023985 p.Ile646Val LB/B rs17323225 - XDH P47989 VAR_023986 p.Ile703Val LB/B rs17011368 - XDH P47989 VAR_023987 p.Thr910Met LB/B rs669884 - XDH P47989 VAR_023988 p.Val1091Leu LB/B rs45619033 - XDH P47989 VAR_023989 p.Asn1109Thr LB/B rs45547640 - XDH P47989 VAR_023990 p.Arg1176Cys LB/B rs45624433 - XDH P47989 VAR_023991 p.Arg1296Trp LB/B rs45564939 - XDH P47989 VAR_035899 p.Leu763Phe US - A breast cancer sample XDH P47989 VAR_035900 p.Arg791Gly US rs775646772 A breast cancer sample XDH P47989 VAR_045900 p.Arg149Cys LP/P rs72549369 Xanthinuria 1 (XAN1) [MIM:278300] XDH P47989 VAR_045901 p.Pro1150Arg LB/B rs1042036 - XG P55808 VAR_054063 p.Asp60Asn LB/B rs5939319 - XIAP P98170 VAR_022282 p.Asn107Ser LB/B rs28382721 - XIAP P98170 VAR_022283 p.Ser133Phe LB/B rs28382722 - XIAP P98170 VAR_022284 p.Asp242Glu LB/B rs28382723 - XIAP P98170 VAR_022285 p.Gln423Pro LB/B rs5956583 - XIAP P98170 VAR_088129 p.Gly188Glu US - Lymphoproliferative syndrome, X-linked, 2 (XLP2) [MIM:300635] XIAP P98170 VAR_088130 p.Ile194Asn US - Lymphoproliferative syndrome, X-linked, 2 (XLP2) [MIM:300635] XIAP P98170 VAR_088135 p.Pro482Arg US - Lymphoproliferative syndrome, X-linked, 2 (XLP2) [MIM:300635] XIRP1 Q702N8 VAR_038439 p.Asp3Asn LB/B rs2271488 - XIRP1 Q702N8 VAR_038440 p.Gln346Arg LB/B rs6805248 - XIRP1 Q702N8 VAR_038441 p.Arg551Gln LB/B rs34121641 - XIRP1 Q702N8 VAR_038442 p.Leu929His US - A breast cancer sample XIRP1 Q702N8 VAR_038443 p.His965Pro LB/B rs11711871 - XIRP1 Q702N8 VAR_038444 p.Pro1046Ala LB/B rs35649793 - XIRP1 Q702N8 VAR_038445 p.Gly1604Arg LB/B rs3732383 - XIRP1 Q702N8 VAR_038446 p.Ala1608Val LB/B rs34810344 - XIRP1 Q702N8 VAR_038447 p.Arg1634Lys US rs768911526 A breast cancer sample XIRP1 Q702N8 VAR_038448 p.Ile1724Val LB/B rs9827576 - XIRP1 Q702N8 VAR_061722 p.Arg695Cys LB/B rs60540208 - XIRP1 Q702N8 VAR_061723 p.Arg776Trp LB/B rs9823779 - XIRP1 Q702N8 VAR_061724 p.Ala1061Val LB/B rs35795536 - XIRP1 Q702N8 VAR_061725 p.Gln1707His LB/B rs34053674 - XIRP2 A4UGR9 VAR_038449 p.Pro450Ala LB/B rs16853305 - XIRP2 A4UGR9 VAR_038450 p.Tyr457His LB/B rs16853306 - XIRP2 A4UGR9 VAR_038451 p.Ile1397Thr LB/B rs7588159 - XIRP2 A4UGR9 VAR_038452 p.Ile1488Thr LB/B rs7591107 - XIRP2 A4UGR9 VAR_038453 p.Arg1626His LB/B rs16853309 - XIRP2 A4UGR9 VAR_038454 p.Asn1833Ser LB/B rs7607246 - XIRP2 A4UGR9 VAR_038455 p.Leu2423Arg LB/B rs16853326 - XIRP2 A4UGR9 VAR_038456 p.Ser2553Asn LB/B rs16853328 - XIRP2 A4UGR9 VAR_038457 p.His2595Tyr LB/B rs16853329 - XIRP2 A4UGR9 VAR_038458 p.Val2607Ile LB/B rs16853330 - XIRP2 A4UGR9 VAR_038459 p.Gly2728Asp LB/B rs3749002 - XIRP2 A4UGR9 VAR_038460 p.Ala2910Thr LB/B rs16853331 - XIRP2 A4UGR9 VAR_038461 p.Tyr2975Cys LB/B rs3749003 - XIRP2 A4UGR9 VAR_038462 p.Ile3022Val LB/B rs3749004 - XIRP2 A4UGR9 VAR_038463 p.Gly3202Glu LB/B rs16853333 - XIRP2 A4UGR9 VAR_076434 p.Ile2769Val LB/B rs781323589 - XK P51811 VAR_013817 p.Arg222Gly LP/P - McLeod syndrome (MLS) [MIM:300842] XK P51811 VAR_013818 p.Cys294Arg LP/P rs28933690 McLeod syndrome (MLS) [MIM:300842] XK P51811 VAR_023581 p.Glu327Lys LP/P - McLeod syndrome (MLS) [MIM:300842] XKR3 Q5GH77 VAR_053740 p.Thr143Met LB/B rs5748648 - XKR3 Q5GH77 VAR_053741 p.Pro232Leu LB/B rs9605146 - XKR3 Q5GH77 VAR_053742 p.Phe255Leu LB/B rs5748623 - XKR3 Q5GH77 VAR_053743 p.His442Asn LB/B rs5748622 - XPA P23025 VAR_007727 p.Pro94Leu LP/P - Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] XPA P23025 VAR_007728 p.Cys108Phe LP/P rs104894131 Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] XPA P23025 VAR_007729 p.Arg130Lys LP/P rs1324310300 Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] XPA P23025 VAR_007730 p.Gln185His LP/P rs746617574 Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] XPA P23025 VAR_007731 p.His244Arg LP/P rs144725456 Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] XPA P23025 VAR_014799 p.Arg228Gln LB/B rs1805160 - XPA P23025 VAR_020324 p.Leu252Val LB/B rs3176750 - XPA P23025 VAR_029325 p.Val234Leu LB/B rs3176749 - XPA P23025 VAR_037907 p.Val97Ile LB/B rs10983315 - XPA P23025 VAR_061987 p.Met256Val LB/B rs57519506 - XPC Q01831 VAR_005846 p.Pro334His LP/P rs74737358 Xeroderma pigmentosum complementation group C (XP-C) [MIM:278720] XPC Q01831 VAR_005848 p.Gln939Lys LB/B rs2228001 - XPC Q01831 VAR_018894 p.Leu16Val LB/B rs1870134 - XPC Q01831 VAR_018895 p.Leu48Phe LB/B rs2229089 - XPC Q01831 VAR_018896 p.Lys86Arg LB/B rs3731063 - XPC Q01831 VAR_018897 p.Arg314Gln LB/B rs3731126 - XPC Q01831 VAR_018898 p.Arg492His LB/B rs2227999 - XPC Q01831 VAR_018899 p.Ala499Val LB/B rs2228000 - XPC Q01831 VAR_018900 p.Met513Ile LB/B rs3731130 - XPC Q01831 VAR_018901 p.Gln632Glu LB/B rs3731139 - XPC Q01831 VAR_018902 p.Arg671His LB/B rs3731140 - XPC Q01831 VAR_018903 p.Thr689Met LB/B rs3731152 - XPC Q01831 VAR_018904 p.Lys928Gln LB/B rs3731177 - XPC Q01831 VAR_057475 p.Phe287Cys LB/B rs35629274 - XPC Q01831 VAR_057476 p.Cys514Ser LB/B rs3731130 - XPC Q01831 VAR_059963 p.Lys511Gln LB/B rs6413541 - XPC Q01831 VAR_064039 p.Trp690Ser LP/P - Xeroderma pigmentosum complementation group C (XP-C) [MIM:278720] XPNPEP2 O43895 VAR_071310 p.Thr215Ile LB/B rs138365897 - XPNPEP2 O43895 VAR_071311 p.Val223Ile LB/B rs61733030 - XPNPEP2 O43895 VAR_071312 p.Lys232Asn LB/B rs41311662 - XPNPEP3 Q9NQH7 VAR_051573 p.Ile450Leu LB/B rs17002243 - XPNPEP3 Q9NQH7 VAR_063820 p.Gly453Cys LP/P rs267607179 Nephronophthisis-like nephropathy 1 (NPHPL1) [MIM:613159] XPO4 Q9C0E2 VAR_048958 p.Asn149Ser LB/B rs17320607 - XPO4 Q9C0E2 VAR_048959 p.Thr451Ala LB/B rs9552285 - XPO5 Q9HAV4 VAR_028032 p.Lys610Asn LB/B rs12173786 - XPO5 Q9HAV4 VAR_048960 p.Ser241Asn LB/B rs34324334 - XPO5 Q9HAV4 VAR_076472 p.Val552Ile US rs11544379 - XPO6 Q96QU8 VAR_048961 p.Val1029Leu LB/B rs14672 - XPO7 Q9UIA9 VAR_026526 p.Glu398Asp LB/B rs17856894 - XPO7 Q9UIA9 VAR_026527 p.Cys835Tyr LB/B rs17856895 - XPOT O43592 VAR_026528 p.Ala526Val LB/B rs17851795 - XPOT O43592 VAR_048962 p.Glu716Asp LB/B rs1051396 - XPR1 Q9UBH6 VAR_038350 p.Thr491Ala LB/B rs1061012 - XPR1 Q9UBH6 VAR_073840 p.Ser136Asn LP/P rs786205902 Basal ganglia calcification, idiopathic, 6 (IBGC6) [MIM:616413] XPR1 Q9UBH6 VAR_073841 p.Leu140Pro LP/P rs786205903 Basal ganglia calcification, idiopathic, 6 (IBGC6) [MIM:616413] XPR1 Q9UBH6 VAR_073842 p.Leu145Pro LP/P rs786205901 Basal ganglia calcification, idiopathic, 6 (IBGC6) [MIM:616413] XPR1 Q9UBH6 VAR_073843 p.Leu218Ser LP/P rs786205904 Basal ganglia calcification, idiopathic, 6 (IBGC6) [MIM:616413] XPR1 Q9UBH6 VAR_087987 p.Arg459Cys LP/P - Basal ganglia calcification, idiopathic, 6 (IBGC6) [MIM:616413] XPR1 Q9UBH6 VAR_087988 p.Asn619Asp LP/P - Basal ganglia calcification, idiopathic, 6 (IBGC6) [MIM:616413] XPR1 Q9UBH6 VAR_087989 p.Ile629Ser LP/P - Basal ganglia calcification, idiopathic, 6 (IBGC6) [MIM:616413] XRCC1 P18887 VAR_011487 p.Gln399Arg LB/B rs25487 - XRCC1 P18887 VAR_013400 p.Arg194Trp LB/B rs1799782 - XRCC1 P18887 VAR_013401 p.Arg280His LB/B rs25489 - XRCC1 P18887 VAR_014773 p.Arg7Leu LB/B rs2307186 - XRCC1 P18887 VAR_014774 p.Val10Met LB/B rs2307171 - XRCC1 P18887 VAR_014775 p.Glu157Lys LB/B rs2307180 - XRCC1 P18887 VAR_014776 p.Pro161Leu LB/B rs2307191 - XRCC1 P18887 VAR_014777 p.Lys298Asn LB/B rs2307188 - XRCC1 P18887 VAR_014778 p.Pro309Ser LB/B rs25491 - XRCC1 P18887 VAR_014779 p.Ser485Tyr LB/B rs2307184 - XRCC1 P18887 VAR_014780 p.Arg559Gln LB/B rs2307167 - XRCC1 P18887 VAR_014781 p.Arg560Trp LB/B rs2307166 - XRCC1 P18887 VAR_014782 p.Tyr576Ser LB/B rs2307177 - XRCC1 P18887 VAR_016168 p.Val72Ala LB/B rs25496 - XRCC1 P18887 VAR_016169 p.Pro514Leu LB/B rs25474 - XRCC1 P18887 VAR_018775 p.Thr304Ala LB/B rs25490 - XRCC1 P18887 VAR_029228 p.Arg107His LB/B rs2228487 - XRCC1 P18887 VAR_036277 p.Arg350Trp US rs754041352 A colorectal cancer sample XRCC1 P18887 VAR_061727 p.Tyr576Asn LB/B rs2682557 - XRCC1 P18887 VAR_079140 p.Lys431Asn LP/P rs761564262 Spinocerebellar ataxia, autosomal recessive, 26 (SCAR26) [MIM:617633] XRCC2 O43543 VAR_020403 p.Ala16Ser LB/B rs4987090 - XRCC2 O43543 VAR_020404 p.Arg188His LB/B rs3218536 - XRCC2 O43543 VAR_029294 p.Ile221Thr LB/B rs3218537 - XRCC2 O43543 VAR_077167 p.His47Arg LB/B rs587780126 - XRCC2 O43543 VAR_077168 p.Leu61Ile LB/B rs569810249 - XRCC2 O43543 VAR_077169 p.Glu75Gln LB/B rs1327414828 - XRCC2 O43543 VAR_077170 p.Arg91Trp US rs730882043 - XRCC2 O43543 VAR_077171 p.Ile95Val LB/B rs140214637 - XRCC2 O43543 VAR_077172 p.Val118Ala LB/B rs185815454 - XRCC2 O43543 VAR_077173 p.Cys120Tyr US rs1432878196 - XRCC2 O43543 VAR_077174 p.Leu133Pro US rs765276614 - XRCC2 O43543 VAR_077175 p.Glu164Gln LB/B rs1215678098 - XRCC2 O43543 VAR_077176 p.Glu170Ala LB/B rs778143946 - XRCC2 O43543 VAR_077177 p.Arg188Cys LB/B rs139219364 - XRCC2 O43543 VAR_077178 p.Thr194Met LB/B rs775565256 - XRCC2 O43543 VAR_077179 p.Met199Leu LB/B rs2098027257 - XRCC2 O43543 VAR_077180 p.Glu207Gly LB/B rs61762969 - XRCC2 O43543 VAR_077181 p.Asp220Val LB/B rs765021741 - XRCC2 O43543 VAR_077182 p.Trp231Cys LB/B rs1267462913 - XRCC2 O43543 VAR_077183 p.Arg238Ser LB/B rs534746330 - XRCC2 O43543 VAR_077184 p.Gln248Glu LB/B rs190900560 - XRCC2 O43543 VAR_077185 p.Arg258Cys LB/B rs759300252 - XRCC2 O43543 VAR_077186 p.Phe270Val LB/B rs145085742 - XRCC2 O43543 VAR_085247 p.Leu14Pro LP/P rs757140620 Premature ovarian failure 17 (POF17) [MIM:619146] XRCC2 O43543 VAR_085247 p.Leu14Pro LP/P rs757140620 Spermatogenic failure 50 (SPGF50) [MIM:619145] XRCC3 O43542 VAR_013006 p.Thr241Met LP/P rs861539 Melanoma, cutaneous malignant 6 (CMM6) [MIM:613972] XRCC3 O43542 VAR_020405 p.Arg94His LB/B rs3212057 - XRCC3 O43542 VAR_029295 p.Gly271Arg LB/B rs28903080 - XRCC3 O43542 VAR_029296 p.Arg302His LB/B rs28903081 - XRCC4 Q13426 VAR_017810 p.Gln240Pro LB/B rs2974446 - XRCC4 Q13426 VAR_017811 p.Ala247Ser LB/B rs3734091 - XRCC4 Q13426 VAR_022310 p.Ser12Cys LB/B rs28383138 - XRCC4 Q13426 VAR_022311 p.Ala56Thr LB/B rs28383151 - XRCC4 Q13426 VAR_022312 p.Ile134Thr LB/B rs28360135 - XRCC4 Q13426 VAR_022313 p.Glu142Gln LB/B rs28360136 - XRCC4 Q13426 VAR_075822 p.Trp43Arg LP/P rs587779351 Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541] XRCC4 Q13426 VAR_075823 p.Arg161Gln LP/P rs797045017 Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541] XRCC4 Q13426 VAR_084965 p.Asp82Glu LP/P - Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541] XRCC5 P13010 VAR_014724 p.Leu463Phe LB/B rs1805380 - XRCC5 P13010 VAR_053784 p.Ile508Val LB/B rs2287558 - XRN1 Q8IZH2 VAR_053000 p.Ser674Gly LB/B rs35214510 - XRN1 Q8IZH2 VAR_053001 p.Val1259Ala LB/B rs35902661 - XRN2 Q9H0D6 VAR_027516 p.Arg743Met LB/B rs6137324 - XRN2 Q9H0D6 VAR_053002 p.Arg925Cys LB/B rs6047420 - XRRA1 Q6P2D8 VAR_038693 p.Thr473Arg LB/B rs4944960 - XRRA1 Q6P2D8 VAR_051492 p.Lys480Glu LB/B rs12291445 - XYLB O75191 VAR_055151 p.Asp85Glu LB/B rs17118 - XYLB O75191 VAR_055152 p.Asp133Asn LB/B rs2234610 - XYLB O75191 VAR_055153 p.Asp139Glu LB/B rs151611 - XYLB O75191 VAR_055154 p.Tyr262Asn LB/B rs196380 - XYLB O75191 VAR_055155 p.Asn348Asp LB/B rs2234622 - XYLT1 Q86Y38 VAR_049324 p.Pro325Arg LB/B rs28709752 - XYLT1 Q86Y38 VAR_049325 p.Pro766Ala LB/B rs12325439 - XYLT1 Q86Y38 VAR_049326 p.Val839Ile LB/B rs7200466 - XYLT1 Q86Y38 VAR_049327 p.Arg892Gln LB/B rs35309694 - XYLT1 Q86Y38 VAR_071271 p.Ala115Ser LP/P rs61758388 Pseudoxanthoma elasticum (PXE) [MIM:264800] XYLT1 Q86Y38 VAR_071272 p.Arg406Trp LB/B rs201009902 - XYLT1 Q86Y38 VAR_071273 p.Arg481Trp LP/P rs587777366 Desbuquois dysplasia 2 (DBQD2) [MIM:615777] XYLT1 Q86Y38 VAR_071274 p.Arg598Cys LP/P rs587777367 Desbuquois dysplasia 2 (DBQD2) [MIM:615777] XYLT1 Q86Y38 VAR_071275 p.Thr665Met LB/B rs79030430 - XYLT2 Q9H1B5 VAR_022453 p.Arg305Thr LB/B rs12451299 - XYLT2 Q9H1B5 VAR_022454 p.Thr801Arg LP/P rs6504649 Pseudoxanthoma elasticum (PXE) [MIM:264800] XYLT2 Q9H1B5 VAR_049328 p.Gly60Arg LB/B rs739990 - XYLT2 Q9H1B5 VAR_071276 p.Asp56Asn LB/B rs113835371 - XYLT2 Q9H1B5 VAR_071277 p.Pro115Leu LB/B rs748114111 - XYLT2 Q9H1B5 VAR_071278 p.Pro418Leu LB/B rs72832454 - YAE1 Q9NRH1 VAR_024306 p.Lys68Glu LB/B rs6947660 - YAP1 P46937 VAR_071125 p.Pro139Leu LB/B rs1162286204 - YAP1 P46937 VAR_071126 p.Ser227Leu LB/B rs376161041 - YAP1 P46937 VAR_071127 p.Met330Val LB/B rs777949318 - YAP1 P46937 VAR_071128 p.Gly462Glu LB/B - - YARS1 P54577 VAR_026681 p.Gly41Arg LP/P rs121908833 Charcot-Marie-Tooth disease, dominant intermediate C (CMTDIC) [MIM:608323] YARS1 P54577 VAR_026683 p.Gln170His LB/B rs2128600 - YARS1 P54577 VAR_026684 p.Glu196Lys LP/P rs121908834 Charcot-Marie-Tooth disease, dominant intermediate C (CMTDIC) [MIM:608323] YARS1 P54577 VAR_073292 p.Glu274Lys US rs758897498 - YARS1 P54577 VAR_086001 p.Pro167Thr LP/P - Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 (IMNEPD2) [MIM:619418] YARS1 P54577 VAR_086002 p.Pro213Leu US rs1553123702 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 (IMNEPD2) [MIM:619418] YARS1 P54577 VAR_086003 p.Phe269Ser US - Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 (IMNEPD2) [MIM:619418] YARS1 P54577 VAR_086004 p.Gly525Arg US rs1553122256 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 (IMNEPD2) [MIM:619418] YARS1 P54577 VAR_087701 p.Asp308Tyr LB/B rs1207371448 - YARS2 Q9Y2Z4 VAR_034534 p.Gly191Val LB/B rs11539445 - YARS2 Q9Y2Z4 VAR_064188 p.Phe52Leu LP/P rs267607180 Myopathy with lactic acidosis and sideroblastic anemia 2 (MLASA2) [MIM:613561] YARS2 Q9Y2Z4 VAR_068646 p.Gly46Asp LP/P rs587777213 Myopathy with lactic acidosis and sideroblastic anemia 2 (MLASA2) [MIM:613561] YBX2 Q9Y2T7 VAR_027916 p.Gly9Val LB/B rs222859 - YBX2 Q9Y2T7 VAR_027917 p.Ser63Pro LB/B rs8069533 - YBX3 P16989 VAR_013114 p.Thr75Ala LB/B rs1126501 - YDJC A8MPS7 VAR_042519 p.Ala263Thr LB/B rs2298428 - YEATS2 Q9ULM3 VAR_051494 p.Ile184Val LB/B rs16858033 - YEATS2 Q9ULM3 VAR_051495 p.Val530Ile LB/B rs262993 - YEATS2 Q9ULM3 VAR_051496 p.Gln993His LB/B rs3211095 - YES1 P07947 VAR_041879 p.Ile198Val LB/B rs34580680 - YES1 P07947 VAR_041880 p.Lys282Arg LB/B rs35126906 - YIF1B Q5BJH7 VAR_035385 p.Pro56Ser LB/B rs11556992 - YIF1B Q5BJH7 VAR_085531 p.Lys123Gln LP/P rs1969205627 Kaya-Barakat-Masson syndrome (KABAMAS) [MIM:619125] YIPF3 Q9GZM5 VAR_026906 p.Ala5Val LB/B rs2231763 - YIPF5 Q969M3 VAR_085533 p.Gly97Val US - Microcephaly, epilepsy, and diabetes syndrome 2 (MEDS2) [MIM:619278] YIPF5 Q969M3 VAR_085534 p.Ile98Ser LP/P - Microcephaly, epilepsy, and diabetes syndrome 2 (MEDS2) [MIM:619278] YIPF5 Q969M3 VAR_085536 p.Ala181Val US - Microcephaly, epilepsy, and diabetes syndrome 2 (MEDS2) [MIM:619278] YIPF5 Q969M3 VAR_085537 p.Trp218Arg US - Microcephaly, epilepsy, and diabetes syndrome 2 (MEDS2) [MIM:619278] YIPF6 Q96EC8 VAR_026855 p.Phe202Leu LB/B rs17850921 - YIPF7 Q8N8F6 VAR_043036 p.Ala30Thr LB/B rs2348353 - YJEFN3 A6XGL0 VAR_061989 p.Ala213Thr LB/B rs58031491 - YJU2B P13994 VAR_053854 p.Ser22Cys LB/B rs12974461 - YJU2B P13994 VAR_053855 p.Cys336Ser LB/B rs35761244 - YME1L1 Q96TA2 VAR_076869 p.Arg206Trp LP/P rs1057519312 Optic atrophy 11 (OPA11) [MIM:617302] YRDC Q86U90 VAR_085771 p.Ala84Val LP/P - Galloway-Mowat syndrome 10 (GAMOS10) [MIM:619609] YRDC Q86U90 VAR_085772 p.Ile221Thr LP/P - Galloway-Mowat syndrome 10 (GAMOS10) [MIM:619609] YTHDC1 Q96MU7 VAR_053746 p.His183Arg LB/B rs3813832 - YTHDC2 Q9H6S0 VAR_058002 p.Ser652Asn LB/B rs10071816 - YTHDC2 Q9H6S0 VAR_058003 p.Leu1409Gln LB/B rs1132528 - YTHDF2 Q9Y5A9 VAR_053744 p.Thr217Ser LB/B rs16838382 - YTHDF2 Q9Y5A9 VAR_053745 p.Pro454Ser LB/B rs35288745 - YWHAB P31946 VAR_064762 p.Val99Ile US - - YWHAG P61981 VAR_080224 p.Glu15Ala US rs1554618767 Developmental and epileptic encephalopathy 56 (DEE56) [MIM:617665] YWHAG P61981 VAR_080225 p.Lys50Gln US rs1554616652 - YWHAG P61981 VAR_080226 p.Asp129Glu LP/P rs1554616630 Developmental and epileptic encephalopathy 56 (DEE56) [MIM:617665] YWHAG P61981 VAR_080227 p.Arg132Cys LP/P rs1554616628 Developmental and epileptic encephalopathy 56 (DEE56) [MIM:617665] YWHAG P61981 VAR_080228 p.Tyr133Ser LB/B rs1554616627 - YWHAH-AS1 Q9Y442 VAR_050934 p.His11Leu LB/B rs1984388 - YWHAZ P63104 VAR_082641 p.Gly53Arg US - - YWHAZ P63104 VAR_082642 p.Ser145Leu US - - YWHAZ P63104 VAR_082643 p.Ser230Trp US - - YY1 P25490 VAR_065086 p.Asp380Tyr LP/P rs1131692043 Gabriele-de Vries syndrome (GADEVS) [MIM:617557] YY1 P25490 VAR_074172 p.Thr372Arg LB/B rs386834266 - YY1 P25490 VAR_079203 p.His320Tyr US - Gabriele-de Vries syndrome (GADEVS) [MIM:617557] YY1 P25490 VAR_079204 p.Lys339Gln US rs1555370868 Gabriele-de Vries syndrome (GADEVS) [MIM:617557] YY1 P25490 VAR_079206 p.Leu366Pro LP/P rs1131692163 Gabriele-de Vries syndrome (GADEVS) [MIM:617557] YY1 P25490 VAR_079207 p.Leu366Val US rs1131692044 Gabriele-de Vries syndrome (GADEVS) [MIM:617557] YY1AP1 Q9H869 VAR_051497 p.Gly412Ser LB/B rs35098429 - YY1AP1 Q9H869 VAR_051498 p.Glu786Gln LB/B rs7539 - YY2 O15391 VAR_039586 p.Asp103Asn US rs147081325 A breast cancer sample ZACN Q401N2 VAR_038483 p.Ala152Thr LB/B rs2257020 - ZAN Q9Y493 VAR_055785 p.Gly412Ser LB/B rs17162408 - ZAN Q9Y493 VAR_055786 p.Ser690Thr LB/B rs13241461 - ZAN Q9Y493 VAR_055787 p.Leu1012Arg LB/B rs6942733 - ZAN Q9Y493 VAR_055788 p.Phe1096Cys LB/B rs221823 - ZAN Q9Y493 VAR_055789 p.Ala1375Thr LB/B rs2293767 - ZAN Q9Y493 VAR_055790 p.Gly1674Cys LB/B rs10953303 - ZAN Q9Y493 VAR_055791 p.Leu1698Pro LB/B rs10247980 - ZAN Q9Y493 VAR_055792 p.Cys1742Arg LB/B rs17147735 - ZAN Q9Y493 VAR_055793 p.Pro1878Ser LB/B rs314298 - ZAN Q9Y493 VAR_055794 p.Cys1903Tyr LB/B rs12673041 - ZAN Q9Y493 VAR_059278 p.Ile1995Met LB/B rs541275 - ZAN Q9Y493 VAR_059279 p.Asn2073Ser LB/B rs314300 - ZAN Q9Y493 VAR_059280 p.Thr2527Met LB/B rs3847059 - ZAN Q9Y493 VAR_059281 p.Trp2643Arg LB/B rs314339 - ZAN Q9Y493 VAR_061162 p.Gly113Ala LB/B rs34828430 - ZAN Q9Y493 VAR_061163 p.Tyr2334Ser LB/B rs60783739 - ZAN Q9Y493 VAR_061164 p.Leu2349Phe LB/B rs59541653 - ZAN Q9Y493 VAR_064584 p.Leu16Phe LB/B rs12673246 - ZAN Q9Y493 VAR_064585 p.Gln430His LB/B rs221833 - ZAN Q9Y493 VAR_064586 p.His1922Cys LB/B rs314299 - ZAN Q9Y493 VAR_064587 p.Phe1969Leu LB/B rs542137 - ZAN Q9Y493 VAR_064588 p.Ser2035Thr LB/B rs539445 - ZAN Q9Y493 VAR_064589 p.Leu2111Pro LB/B rs531503 - ZAP70 P43403 VAR_006351 p.Ser518Arg LP/P rs104893674 Immunodeficiency 48 (IMD48) [MIM:269840] ZAP70 P43403 VAR_015538 p.Arg465His LP/P rs137853201 Immunodeficiency 48 (IMD48) [MIM:269840] ZAP70 P43403 VAR_041846 p.Arg175Leu LB/B rs55964305 - ZAP70 P43403 VAR_041847 p.Pro191Leu LB/B rs56403250 - ZAP70 P43403 VAR_041848 p.Gly448Glu US - Neck squamous cell carcinoma sample ZAP70 P43403 VAR_041849 p.Trp523Leu LB/B rs56189815 - ZAP70 P43403 VAR_065623 p.Leu337Arg LP/P rs1254428002 Immunodeficiency 48 (IMD48) [MIM:269840] ZAP70 P43403 VAR_065624 p.Arg465Cys LP/P rs113994174 Immunodeficiency 48 (IMD48) [MIM:269840] ZAP70 P43403 VAR_065625 p.Ala507Val LP/P - Immunodeficiency 48 (IMD48) [MIM:269840] ZAP70 P43403 VAR_065626 p.Cys564Arg LP/P - Immunodeficiency 48 (IMD48) [MIM:269840] ZAP70 P43403 VAR_077137 p.Arg192Trp LP/P rs199840952 Autoimmune disease, multisystem, infantile-onset, 2 (ADMIO2) [MIM:617006] ZAP70 P43403 VAR_077138 p.Arg360Pro LP/P rs869025224 Autoimmune disease, multisystem, infantile-onset, 2 (ADMIO2) [MIM:617006] ZBBX A8MT70 VAR_046955 p.Ala636Gly LB/B rs12638625 - ZBBX A8MT70 VAR_048400 p.Pro14Thr LB/B rs10936535 - ZBBX A8MT70 VAR_048401 p.Lys160Asn LB/B rs4619784 - ZBBX A8MT70 VAR_048402 p.Lys178Arg LB/B rs11923054 - ZBBX A8MT70 VAR_048403 p.Ala473Gly LB/B rs13096767 - ZBBX A8MT70 VAR_048404 p.Ile511Thr LB/B rs35190925 - ZBBX A8MT70 VAR_048405 p.Glu555Lys LB/B rs35864545 - ZBBX A8MT70 VAR_061040 p.His346Arg LB/B rs34465133 - ZBED4 O75132 VAR_027809 p.Ile420Val LB/B rs910799 - ZBED5 Q49AG3 VAR_032895 p.Ala17Val LB/B rs2232918 - ZBED5 Q49AG3 VAR_032896 p.Gln47Arg LB/B rs2232919 - ZBED5 Q49AG3 VAR_032897 p.Pro77Ser LB/B rs2232920 - ZBED5 Q49AG3 VAR_059741 p.Ile480Val LB/B rs1046297 - ZBP1 Q9H171 VAR_014316 p.Glu88Lys LB/B rs2073145 - ZBP1 Q9H171 VAR_057030 p.Arg17Ile LB/B rs35813125 - ZBP1 Q9H171 VAR_057031 p.Gly70Arg LB/B rs34964609 - ZBP1 Q9H171 VAR_057032 p.Asp154His LB/B rs16981187 - ZBP1 Q9H171 VAR_057033 p.Arg166His LB/B rs34478944 - ZBP1 Q9H171 VAR_061728 p.Lys53Arg LB/B rs35895307 - ZBP1 Q9H171 VAR_061729 p.Ala332Val LB/B rs41275648 - ZBP1 Q9H171 VAR_069138 p.Gln258Arg LB/B rs2865394 - ZBTB10 Q96DT7 VAR_018384 p.Pro50Thr LB/B rs591989 - ZBTB10 Q96DT7 VAR_018385 p.Met174Ile LB/B rs593747 - ZBTB11 O95625 VAR_021894 p.Gly44Ser LB/B rs3749323 - ZBTB11 O95625 VAR_047465 p.Thr350Asn LB/B rs33957144 - ZBTB11 O95625 VAR_080760 p.His880Gln LP/P rs1559981249 Intellectual developmental disorder, autosomal recessive 69 (MRT69) [MIM:618383] ZBTB11 O95625 VAR_082098 p.His729Tyr LP/P rs1559982532 Intellectual developmental disorder, autosomal recessive 69 (MRT69) [MIM:618383] ZBTB14 O43829 VAR_027810 p.Glu77Gly LB/B rs7235740 - ZBTB14 O43829 VAR_027811 p.Gln139Arg LB/B rs7235420 - ZBTB16 Q05516 VAR_054912 p.Met617Val LP/P rs121434606 Skeletal defects, genital hypoplasia, and impaired intellectual development (SGYMR) [MIM:612447] ZBTB18 Q99592 VAR_012768 p.Glu132Gly LB/B rs1048824 - ZBTB20 Q9HC78 VAR_072583 p.Lys590Gln LP/P rs483353064 Primrose syndrome (PRIMS) [MIM:259050] ZBTB20 Q9HC78 VAR_072584 p.His596Arg LP/P rs483353066 Primrose syndrome (PRIMS) [MIM:259050] ZBTB20 Q9HC78 VAR_072585 p.Gly602Ala LP/P rs483353068 Primrose syndrome (PRIMS) [MIM:259050] ZBTB20 Q9HC78 VAR_072586 p.Leu621Phe LP/P rs483353070 Primrose syndrome (PRIMS) [MIM:259050] ZBTB21 Q9ULJ3 VAR_052807 p.Asn185Ser LB/B rs871545 - ZBTB21 Q9ULJ3 VAR_052808 p.Lys218Gln LB/B rs871546 - ZBTB22 O15209 VAR_022702 p.Thr310Ala LB/B rs3130100 - ZBTB22 O15209 VAR_057457 p.Gly250Ala LB/B rs35663442 - ZBTB24 O43167 VAR_057458 p.Ala518Thr LB/B rs2232448 - ZBTB24 O43167 VAR_065846 p.Cys408Gly LP/P rs387907105 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2) [MIM:614069] ZBTB26 Q9HCK0 VAR_052916 p.His236Arg LB/B rs7856488 - ZBTB3 Q9H5J0 VAR_018382 p.Ile574Met LB/B rs544641 - ZBTB3 Q9H5J0 VAR_035600 p.His424Leu US - A breast cancer sample ZBTB3 Q9H5J0 VAR_035601 p.Ser455Phe US - A breast cancer sample ZBTB32 Q9Y2Y4 VAR_030145 p.Arg174Ser LB/B rs2227278 - ZBTB38 Q8NAP3 VAR_052917 p.Ser319Ala LB/B rs16851435 - ZBTB38 Q8NAP3 VAR_052918 p.Thr615Met LB/B rs17787670 - ZBTB38 Q8NAP3 VAR_052919 p.Ala809Thr LB/B rs3732867 - ZBTB38 Q8NAP3 VAR_079610 p.Val1067Ile US rs202147729 - ZBTB39 O15060 VAR_019985 p.Pro689Ala LB/B rs3741576 - ZBTB4 Q9P1Z0 VAR_018383 p.Met550Ile LB/B rs871990 - ZBTB4 Q9P1Z0 VAR_052913 p.Ala539Val LB/B rs35231078 - ZBTB4 Q9P1Z0 VAR_052914 p.Asn561Ser LB/B rs34914463 - ZBTB40 Q9NUA8 VAR_052920 p.Ala225Thr LB/B rs6659222 - ZBTB40 Q9NUA8 VAR_052921 p.Met267Ile LB/B rs36115661 - ZBTB40 Q9NUA8 VAR_052922 p.Tyr595Cys LB/B rs209729 - ZBTB40 Q9NUA8 VAR_052923 p.Val997Met LB/B rs209720 - ZBTB41 Q5SVQ8 VAR_030601 p.Asp327Tyr LB/B rs10494751 - ZBTB42 B2RXF5 VAR_073265 p.Arg397His LP/P rs730882163 Lethal congenital contracture syndrome 6 (LCCS6) [MIM:616248] ZBTB44 Q8NCP5 VAR_030336 p.Lys185Glu LB/B rs17857365 - ZBTB45 Q96K62 VAR_052924 p.Asp293Glu LB/B rs35430780 - ZBTB46 Q86UZ6 VAR_030629 p.Thr11Ala LB/B rs2281929 - ZBTB47 Q9UFB7 VAR_027715 p.Ala385Thr LB/B rs9878239 - ZBTB48 P10074 VAR_052925 p.Ser675Ala LB/B rs2229330 - ZBTB49 Q6ZSB9 VAR_057422 p.Tyr320Ser LB/B rs2920217 - ZBTB49 Q6ZSB9 VAR_057423 p.Ala348Thr LB/B rs4689254 - ZBTB49 Q6ZSB9 VAR_057424 p.Ala642Val LB/B rs34293093 - ZBTB49 Q6ZSB9 VAR_073227 p.Thr556Ala LB/B rs146575965 - ZBTB5 O15062 VAR_052915 p.Asp300Gly LB/B rs17502738 - ZBTB7A O95365 VAR_086968 p.Ser56Ile US - Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MNDLFH) [MIM:619769] ZBTB7A O95365 VAR_086971 p.Cys384Trp LP/P - Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MNDLFH) [MIM:619769] ZBTB7A O95365 VAR_086972 p.Thr405Lys LP/P - Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MNDLFH) [MIM:619769] ZBTB7A O95365 VAR_086973 p.Asp452Asn US - Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MNDLFH) [MIM:619769] ZBTB8A Q96BR9 VAR_058085 p.Ala418Gly LB/B rs704886 - ZBTB8B Q8NAP8 VAR_035602 p.Glu181Lys US - A colorectal cancer sample ZBTB9 Q96C00 VAR_061981 p.Ala274Gly LB/B rs9469425 - ZC2HC1A Q96GY0 VAR_031102 p.Thr156Ala LB/B rs17850447 - ZC2HC1B Q5TFG8 VAR_053853 p.Pro6Ser LB/B rs6934118 - ZC3H11A O75152 VAR_052967 p.Thr640Asn LB/B rs11240604 - ZC3H12A Q5D1E8 VAR_044082 p.Gly547Asp LB/B rs17849897 - ZC3H12A Q5D1E8 VAR_052968 p.Val240Met LB/B rs16824179 - ZC3H12D A2A288 VAR_046199 p.Pro53Leu LB/B rs7747948 - ZC3H12D A2A288 VAR_046200 p.Lys106Arg US rs61997220 Some sporadic lung cancer sample ZC3H13 Q5T200 VAR_022727 p.Glu1429Asp LB/B rs9534264 - ZC3H15 Q8WU90 VAR_039867 p.Val342Glu LB/B rs11555006 - ZC3H15 Q8WU90 VAR_052969 p.Thr408Pro LB/B rs1043497 - ZC3H18 Q86VM9 VAR_037188 p.Ala368Thr LB/B rs34808360 - ZC3H18 Q86VM9 VAR_037189 p.Arg440His LB/B rs17855686 - ZC3H3 Q8IXZ2 VAR_018457 p.Ile6Met LB/B rs2242093 - ZC3H3 Q8IXZ2 VAR_018458 p.Phe149Tyr LB/B rs3750206 - ZC3H3 Q8IXZ2 VAR_018459 p.Glu151Asp LB/B rs3750207 - ZC3H3 Q8IXZ2 VAR_018460 p.Ser399Gly LB/B rs1318196 - ZC3H3 Q8IXZ2 VAR_018461 p.Ser452Gly LB/B rs4874147 - ZC3H3 Q8IXZ2 VAR_057484 p.Arg168Trp LB/B rs3750208 - ZC3H3 Q8IXZ2 VAR_057485 p.Ala228Ser LB/B rs4873802 - ZC3H3 Q8IXZ2 VAR_057486 p.Pro351Leu LB/B rs34674128 - ZC3H3 Q8IXZ2 VAR_057487 p.Pro415Leu LB/B rs36008851 - ZC3H3 Q8IXZ2 VAR_057488 p.Thr503Lys LB/B rs11548254 - ZC3H3 Q8IXZ2 VAR_060402 p.Gln102Arg LB/B rs17857167 - ZC3H3 Q8IXZ2 VAR_060403 p.Glu165Lys LB/B rs17853852 - ZC3H3 Q8IXZ2 VAR_060404 p.Pro231Ala LB/B rs17853853 - ZC3H3 Q8IXZ2 VAR_060405 p.Arg578His LB/B rs17855618 - ZC3H3 Q8IXZ2 VAR_060406 p.Arg636Trp LB/B rs17857164 - ZC3H3 Q8IXZ2 VAR_060407 p.Pro727Arg LB/B rs17857168 - ZC3H4 Q9UPT8 VAR_052964 p.Glu287Lys LB/B rs192824 - ZC3H4 Q9UPT8 VAR_052965 p.Met464Val LB/B rs402833 - ZC3H4 Q9UPT8 VAR_052966 p.Ala1228Gly LB/B rs309195 - ZC3H7A Q8IWR0 VAR_052632 p.Asn3Ser LB/B rs1429077 - ZC3H7A Q8IWR0 VAR_052633 p.His57Arg LB/B rs16958654 - ZC3H7B Q9UGR2 VAR_054313 p.Asp363Asn LB/B rs9607793 - ZC3H8 Q8N5P1 VAR_057489 p.Cys240Trp LB/B rs35782954 - ZC3HAV1 Q7Z2W4 VAR_018454 p.Arg485Lys LB/B rs2236426 - ZC3HAV1 Q7Z2W4 VAR_018455 p.His565Gln LB/B rs2297241 - ZC3HAV1 Q7Z2W4 VAR_018456 p.Thr851Ile LB/B rs3735007 - ZC3HAV1 Q7Z2W4 VAR_054319 p.Gln701Glu LB/B rs2297236 - ZC3HC1 Q86WB0 VAR_023312 p.Thr271Ala LB/B rs1464890 - ZC3HC1 Q86WB0 VAR_023313 p.Arg363His LB/B rs11556924 - ZC4H2 Q9NQZ6 VAR_069621 p.Val63Leu LP/P rs398122938 Wieacker-Wolf syndrome (WRWF) [MIM:314580] ZC4H2 Q9NQZ6 VAR_069622 p.Arg198Gln LP/P rs879255235 Wieacker-Wolf syndrome (WRWF) [MIM:314580] ZC4H2 Q9NQZ6 VAR_069623 p.Pro201Ser LP/P rs398122939 Wieacker-Wolf syndrome (WRWF) [MIM:314580] ZC4H2 Q9NQZ6 VAR_069624 p.Arg213Trp LP/P rs879255236 Wieacker-Wolf syndrome (WRWF) [MIM:314580] ZC4H2 Q9NQZ6 VAR_079397 p.Arg18Lys LP/P rs1057520299 Wieacker-Wolf syndrome (WRWF) [MIM:314580] ZC4H2 Q9NQZ6 VAR_079398 p.Leu66His LP/P rs1057520297 Wieacker-Wolf syndrome (WRWF) [MIM:314580] ZC4H2 Q9NQZ6 VAR_083954 p.His70Gln LP/P - Wieacker-Wolf syndrome (WRWF) [MIM:314580] ZC4H2 Q9NQZ6 VAR_083956 p.Ala200Thr LP/P rs1929006117 Wieacker-Wolf syndrome (WRWF) [MIM:314580] ZC4H2 Q9NQZ6 VAR_083957 p.Ala200Val LP/P - Wieacker-Wolf syndrome (WRWF) [MIM:314580] ZC4H2 Q9NQZ6 VAR_083958 p.Pro201His LP/P - Wieacker-Wolf syndrome (WRWF) [MIM:314580] ZC4H2 Q9NQZ6 VAR_083959 p.Cys203Ser LP/P - Wieacker-Wolff syndrome, female-restricted (WRWFFR) [MIM:301041] ZC4H2 Q9NQZ6 VAR_083960 p.Cys206Phe LP/P rs1064795753 Wieacker-Wolff syndrome, female-restricted (WRWFFR) [MIM:301041] ZC4H2 Q9NQZ6 VAR_083961 p.Lys217Arg LP/P rs1929002470 Wieacker-Wolf syndrome (WRWF) [MIM:314580] ZCCHC12 Q6PEW1 VAR_045908 p.Arg7Cys LB/B rs35356061 - ZCCHC12 Q6PEW1 VAR_045909 p.Leu179Ile LB/B rs17854957 - ZCCHC12 Q6PEW1 VAR_045910 p.Arg214Gly LB/B rs17853670 - ZCCHC12 Q6PEW1 VAR_075208 p.Arg241Thr LB/B rs140976011 - ZCCHC14 Q8WYQ9 VAR_024703 p.Val693Met LB/B rs3748400 - ZCCHC14 Q8WYQ9 VAR_036492 p.Leu290Val US - A breast cancer sample ZCCHC14 Q8WYQ9 VAR_053754 p.Ile54Val LB/B rs11648852 - ZCCHC14 Q8WYQ9 VAR_053755 p.Gly244Ala LB/B rs13338940 - ZCCHC2 Q9C0B9 VAR_060121 p.Thr941Ala LB/B rs35643152 - ZCCHC24 Q8N2G6 VAR_030249 p.Glu43Val LB/B rs17852581 - ZCCHC4 Q9H5U6 VAR_024925 p.Leu396His LB/B rs315675 - ZCCHC4 Q9H5U6 VAR_053751 p.Pro382Leu LB/B rs3752873 - ZCCHC7 Q8N3Z6 VAR_054958 p.Gly118Asp LB/B rs35119826 - ZCCHC7 Q8N3Z6 VAR_054959 p.Arg539Lys LB/B rs1051465 - ZCCHC8 Q6NZY4 VAR_034585 p.Pro672Ala LB/B rs1063155 - ZCCHC8 Q6NZY4 VAR_083448 p.Pro186Leu LP/P - Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 5 (PFBMFT5) [MIM:618674] ZCCHC9 Q8N567 VAR_028164 p.Pro15Ala LB/B rs16878594 - ZCRB1 Q8TBF4 VAR_027845 p.Pro131Gln LB/B rs17852093 - ZCWPW1 Q9H0M4 VAR_019659 p.Thr153Ala LB/B rs6465770 - ZCWPW1 Q9H0M4 VAR_047050 p.Glu365Lys LB/B rs6970350 - ZCWPW2 Q504Y3 VAR_051499 p.Leu202Gln LB/B rs1563656 - ZDBF2 Q9HCK1 VAR_037853 p.Arg160Lys LB/B rs10932150 - ZDHHC1 Q8WTX9 VAR_052972 p.Arg124Gln LB/B rs34229857 - ZDHHC11 Q9H8X9 VAR_021998 p.Arg372His LB/B rs3747738 - ZDHHC11 Q9H8X9 VAR_024704 p.Arg341Gln LB/B rs1809008 - ZDHHC11 Q9H8X9 VAR_052975 p.Leu325Ser LB/B rs2878468 - ZDHHC11B P0C7U3 VAR_052976 p.Arg42Gln LB/B rs1809933 - ZDHHC11B P0C7U3 VAR_052977 p.Arg200Gly LB/B rs634901 - ZDHHC11B P0C7U3 VAR_061990 p.Val228Leu LB/B rs3817063 - ZDHHC12 Q96GR4 VAR_023833 p.Pro69Ser LB/B rs2298039 - ZDHHC12 Q96GR4 VAR_023834 p.Gln172Leu LB/B rs2900268 - ZDHHC13 Q8IUH4 VAR_023835 p.Lys99Arg LB/B rs2271001 - ZDHHC13 Q8IUH4 VAR_057490 p.Tyr392Cys LB/B rs12798330 - ZDHHC14 Q8IZN3 VAR_034586 p.Thr334Met LB/B rs8180688 - ZDHHC17 Q8IUH5 VAR_052978 p.Asn383Ser LB/B rs33996476 - ZDHHC19 Q8WVZ1 VAR_052979 p.Gly66Ala LB/B rs13315830 - ZDHHC2 Q9UIJ5 VAR_015229 p.Ser306Phe US - A hepatocellular carcinoma sample ZDHHC2 Q9UIJ5 VAR_015230 p.Met356Ile US rs568589179 A colorectal cancer sample ZDHHC23 Q8IYP9 VAR_047389 p.His132Asn LB/B rs17853401 - ZDHHC23 Q8IYP9 VAR_047390 p.Thr221Ala LB/B rs17853402 - ZDHHC23 Q8IYP9 VAR_047391 p.Lys247Arg LB/B rs11921691 - ZDHHC23 Q8IYP9 VAR_047392 p.His274Arg LB/B rs17857054 - ZDHHC4 Q9NPG8 VAR_023832 p.Val53Met LB/B rs11559146 - ZDHHC4 Q9NPG8 VAR_036260 p.Pro104Ser US - A breast cancer sample ZDHHC6 Q9H6R6 VAR_052974 p.Asp41Asn LB/B rs34350728 - ZDHHC7 Q9NXF8 VAR_028360 p.Val201Ile LB/B rs13334011 - ZDHHC7 Q9NXF8 VAR_036261 p.Asp44Asn US - A colorectal cancer sample ZDHHC9 Q9Y397 VAR_062674 p.Arg148Trp LP/P rs137852214 Intellectual developmental disorder, X-linked, syndromic, Raymond type (MRXSR) [MIM:300799] ZDHHC9 Q9Y397 VAR_062675 p.Pro150Ser LP/P rs137852215 Intellectual developmental disorder, X-linked, syndromic, Raymond type (MRXSR) [MIM:300799] ZEB1 P37275 VAR_031824 p.Lys553Arg LB/B rs35753967 - ZEB1 P37275 VAR_052731 p.Gly90Arg LB/B rs12217419 - ZEB1 P37275 VAR_063759 p.Asn78Thr LP/P rs80194531 Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270] ZEB1 P37275 VAR_063760 p.Pro649Ala LP/P rs781750314 Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270] ZEB1 P37275 VAR_063761 p.Gln810Pro LP/P rs199944415 Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270] ZEB1 P37275 VAR_063762 p.Gln840Pro LP/P rs118020901 Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270] ZEB1 P37275 VAR_063763 p.Ala905Thr LP/P - Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270] ZEB1 P37275 VAR_072897 p.Gly525Glu US - - ZEB1 P37275 VAR_072898 p.Gln640His LP/P rs779148597 Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270] ZEB1 P37275 VAR_072899 p.Asn696Ser LP/P rs567252241 Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270] ZEB1 P37275 VAR_072900 p.Ala905Gly LP/P rs78449005 Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270] ZEB2 O60315 VAR_027017 p.Arg953Gly LP/P - Mowat-Wilson syndrome (MOWS) [MIM:235730] ZEB2 O60315 VAR_027018 p.Gln1119Arg LP/P rs137852983 Mowat-Wilson syndrome (MOWS) [MIM:235730] ZEB2 O60315 VAR_035563 p.Asp983Asn US - A colorectal cancer sample ZER1 Q7Z7L7 VAR_060159 p.Thr539Ile LB/B rs13299702 - ZFAND2A Q8N6M9 VAR_055295 p.His53Leu LB/B rs17855544 - ZFAND4 Q86XD8 VAR_053773 p.Lys118Thr LB/B rs17854567 - ZFAND4 Q86XD8 VAR_053774 p.His358Tyr LB/B rs12267385 - ZFAND4 Q86XD8 VAR_062163 p.Thr523Ala LB/B rs34082391 - ZFAT Q9P243 VAR_024840 p.Gly64Arg LB/B rs17778003 - ZFAT Q9P243 VAR_045815 p.Pro102Ser LB/B rs12541381 - ZFAT Q9P243 VAR_052819 p.Arg672Lys LB/B rs35003767 - ZFAT Q9P243 VAR_084658 p.Arg400Gln US - - ZFC3H1 O60293 VAR_032070 p.Glu1006Lys LB/B rs1011332 - ZFC3H1 O60293 VAR_032071 p.Lys1807Arg LB/B rs11541286 - ZFHX2 Q9C0A1 VAR_081116 p.Arg1913Lys LP/P rs1555344723 Marsili syndrome (MARSIS) [MIM:147430] ZFHX3 Q15911 VAR_011694 p.Ala3374Val LB/B - - ZFHX3 Q15911 VAR_019968 p.Glu460Gln LB/B rs2073852 - ZFHX3 Q15911 VAR_026663 p.Ser72Ala LB/B rs7193297 - ZFHX3 Q15911 VAR_026664 p.Thr428Pro LB/B rs16971436 - ZFHX3 Q15911 VAR_026665 p.Val777Ala LB/B rs4788682 - ZFHX3 Q15911 VAR_026666 p.Pro3421Ala LB/B rs8044440 - ZFHX3 Q15911 VAR_052733 p.Ala997Ser LB/B rs2213978 - ZFHX3 Q15911 VAR_061927 p.Ser146Gly LB/B rs58480263 - ZFHX4 Q86UP3 VAR_057375 p.Ile2036Val LB/B rs16919452 - ZFHX4 Q86UP3 VAR_057376 p.Val3033Gly LB/B rs16939380 - ZFP2 Q6ZN57 VAR_032904 p.Gln113His LB/B rs28678700 - ZFP2 Q6ZN57 VAR_032905 p.Arg142Gly LB/B rs11956147 - ZFP28 Q8NHY6 VAR_024190 p.Ala620Val LB/B rs10409531 - ZFP28 Q8NHY6 VAR_052738 p.Ser141Trp LB/B rs34136271 - ZFP36 P26651 VAR_021064 p.Pro37Ser LB/B rs17878633 - ZFP36 P26651 VAR_021065 p.Ile259Phe LB/B rs17886974 - ZFP36 P26651 VAR_021066 p.Val324Phe LB/B rs17884899 - ZFP36 P26651 VAR_052324 p.Pro55Ser LB/B rs2229272 - ZFP36L2 P47974 VAR_087929 p.Ser308Ala US rs373995498 Oocyte/zygote/embryo maturation arrest 13 (OZEMA13) [MIM:620154] ZFP37 Q9Y6Q3 VAR_058701 p.Val7Asp LB/B rs2282076 - ZFP57 Q9NU63 VAR_032902 p.Asn114Ser LB/B rs9461544 - ZFP57 Q9NU63 VAR_032903 p.Asp284Val LB/B rs2535241 - ZFP57 Q9NU63 VAR_054771 p.Arg166His LP/P rs199589695 Diabetes mellitus, transient neonatal, 1 (TNDM1) [MIM:601410] ZFP57 Q9NU63 VAR_054772 p.His193Asn LP/P rs78378398 Diabetes mellitus, transient neonatal, 1 (TNDM1) [MIM:601410] ZFP57 Q9NU63 VAR_054773 p.His374Asp LP/P rs79020217 Diabetes mellitus, transient neonatal, 1 (TNDM1) [MIM:601410] ZFP62 Q8NB50 VAR_064881 p.Met34Ile LB/B rs705441 - ZFP62 Q8NB50 VAR_064882 p.Arg698Lys LB/B rs168726 - ZFP64 Q9NTW7 VAR_028019 p.Gln68Pro LB/B rs7353222 - ZFP64 Q9NTW7 VAR_028020 p.Pro139Leu LB/B rs6021773 - ZFP64 Q9NTW7 VAR_035564 p.Asp593Glu US - A breast cancer sample ZFP64 Q9NTW7 VAR_035565 p.Lys609Asn US - A breast cancer sample ZFP69 Q49AA0 VAR_033583 p.Val113Leu LB/B rs34752670 - ZFP69B Q9UJL9 VAR_033584 p.Cys115Tyr LB/B rs2272994 - ZFP69B Q9UJL9 VAR_052884 p.Gly359Arg LB/B rs12407929 - ZFP91 Q96JP5 VAR_021889 p.Ser207Gly LB/B rs8373 - ZFP91 Q96JP5 VAR_032454 p.Val37Ile LB/B rs17854702 - ZFPL1 O95159 VAR_034472 p.Arg218Gln LB/B rs35251366 - ZFPM1 Q8IX07 VAR_057491 p.Gly70Ala LB/B rs34916016 - ZFPM2 Q8WW38 VAR_017942 p.Glu30Gly LP/P rs121908601 Conotruncal heart malformations (CTHM) [MIM:217095] ZFPM2 Q8WW38 VAR_017942 p.Glu30Gly LP/P rs121908601 Tetralogy of Fallot (TOF) [MIM:187500] ZFPM2 Q8WW38 VAR_017943 p.Ser657Gly LP/P rs28374544 Tetralogy of Fallot (TOF) [MIM:187500] ZFPM2 Q8WW38 VAR_017944 p.Glu782Asp LB/B rs2920048 - ZFPM2 Q8WW38 VAR_024178 p.Ala403Gly LB/B rs11993776 - ZFPM2 Q8WW38 VAR_030760 p.Ala1055Val LB/B rs16873741 - ZFPM2 Q8WW38 VAR_071104 p.Arg260Gln LP/P rs200834568 46,XY sex reversal 9 (SRXY9) [MIM:616067] ZFPM2 Q8WW38 VAR_071105 p.Ser402Arg LP/P rs606231252 46,XY sex reversal 9 (SRXY9) [MIM:616067] ZFPM2 Q8WW38 VAR_072074 p.Ile227Val LP/P rs202204708 Conotruncal heart malformations (CTHM) [MIM:217095] ZFPM2 Q8WW38 VAR_072075 p.Met544Ile LP/P rs187043152 46,XY sex reversal 9 (SRXY9) [MIM:616067] ZFPM2 Q8WW38 VAR_072075 p.Met544Ile LP/P rs187043152 Tetralogy of Fallot (TOF) [MIM:187500] ZFR Q96KR1 VAR_037554 p.Val461Ile LB/B rs4867440 - ZFR Q96KR1 VAR_037555 p.Ile520Thr LB/B rs1051489 - ZFR Q96KR1 VAR_077851 p.Leu319Pro US rs587777203 - ZFR2 Q9UPR6 VAR_036886 p.Ser164Leu LB/B rs2240235 - ZFR2 Q9UPR6 VAR_036887 p.Val183Met LB/B rs2240234 - ZFR2 Q9UPR6 VAR_036888 p.Val210Leu LB/B rs2240233 - ZFR2 Q9UPR6 VAR_036889 p.Pro235Leu LB/B rs2240232 - ZFR2 Q9UPR6 VAR_036890 p.Ala577Thr LB/B rs2301843 - ZFR2 Q9UPR6 VAR_036891 p.Asp589Asn LB/B rs2301839 - ZFR2 Q9UPR6 VAR_061730 p.Ile718Met LB/B rs45465594 - ZFYVE16 Q7Z3T8 VAR_019489 p.Ile192Thr LB/B rs2544600 - ZFYVE16 Q7Z3T8 VAR_019490 p.Ile598Thr LB/B rs259028 - ZFYVE16 Q7Z3T8 VAR_019491 p.Ser1055Gly LB/B rs249038 - ZFYVE16 Q7Z3T8 VAR_057492 p.Ala35Glu LB/B rs6893297 - ZFYVE16 Q7Z3T8 VAR_057493 p.Thr1519Asn LB/B rs16877836 - ZFYVE16 Q7Z3T8 VAR_069368 p.Ala380Val LB/B rs752702732 - ZFYVE19 Q96K21 VAR_057494 p.Arg210His LB/B rs34819163 - ZFYVE19 Q96K21 VAR_060474 p.Ser376Ala LB/B rs690347 - ZFYVE19 Q96K21 VAR_060475 p.Arg398Cys LB/B rs72735636 - ZFYVE19 Q96K21 VAR_087108 p.Met76Val LP/P rs1215965232 Cholestasis, progressive familial intrahepatic, 9 (PFIC9) [MIM:619849] ZFYVE26 Q68DK2 VAR_037987 p.Lys429Glu LB/B rs34059852 - ZFYVE26 Q68DK2 VAR_037988 p.Thr898Ser LB/B rs17192170 - ZFYVE26 Q68DK2 VAR_037989 p.Thr951Met LB/B rs35471427 - ZFYVE26 Q68DK2 VAR_037990 p.Ser1071Asn LB/B rs7156206 - ZFYVE26 Q68DK2 VAR_037991 p.Pro1103Leu LB/B rs3742885 - ZFYVE26 Q68DK2 VAR_037992 p.Ala1122Val LB/B rs3742884 - ZFYVE26 Q68DK2 VAR_037993 p.Ala1164Glu US - A breast cancer sample ZFYVE26 Q68DK2 VAR_037994 p.Cys1457Tyr LB/B rs2235967 - ZFYVE26 Q68DK2 VAR_037995 p.Asn1891Ser LB/B rs3742883 - ZFYVE26 Q68DK2 VAR_037996 p.Arg1945Gln US rs200595749 A breast cancer sample ZFYVE26 Q68DK2 VAR_037997 p.Arg2411His LB/B rs34373049 - ZFYVE27 Q5T4F4 VAR_027002 p.Val82Ile LB/B rs17108378 - ZFYVE27 Q5T4F4 VAR_027003 p.Gly138Val LB/B rs10882993 - ZFYVE27 Q5T4F4 VAR_027269 p.Gly191Val LP/P rs35077384 Spastic paraplegia 33, autosomal dominant (SPG33) [MIM:610244] ZFYVE28 Q9HCC9 VAR_052988 p.Ser603Asn LB/B rs17768776 - ZFYVE28 Q9HCC9 VAR_052989 p.Ser672Pro LB/B rs661301 - ZFYVE9 O95405 VAR_052985 p.Tyr287Cys LB/B rs9803965 - ZFYVE9 O95405 VAR_052986 p.Gln414Pro LB/B rs3790525 - ZFYVE9 O95405 VAR_052987 p.Ile639Val LB/B rs11809887 - ZG16 O60844 VAR_034587 p.Gly32Ser LB/B rs235636 - ZG16 O60844 VAR_034588 p.Ser162Thr LB/B rs235638 - ZG16 O60844 VAR_070695 p.Val109Leu LB/B rs235637 - ZG16B Q96DA0 VAR_060067 p.Met97Val LB/B rs35533993 - ZGPAT Q8N5A5 VAR_025539 p.Ser61Arg LB/B rs1291212 - ZGRF1 Q86YA3 VAR_032147 p.Asn410Ser LB/B rs7696816 - ZGRF1 Q86YA3 VAR_032148 p.Gly451Glu LB/B rs17854334 - ZGRF1 Q86YA3 VAR_032149 p.Thr978Ile LB/B rs17669218 - ZGRF1 Q86YA3 VAR_037862 p.Ile1410Thr LB/B rs3828539 - ZGRF1 Q86YA3 VAR_037863 p.Ser1568Leu LB/B rs17605622 - ZGRF1 Q86YA3 VAR_037864 p.Ser1696Cys LB/B rs3762891 - ZHX2 Q9Y6X8 VAR_049594 p.Val357Met LB/B rs9649951 - ZHX2 Q9Y6X8 VAR_049595 p.Arg649Lys LB/B rs35319449 - ZHX2 Q9Y6X8 VAR_049596 p.Gly779Ser LB/B rs3802264 - ZHX3 Q9H4I2 VAR_049597 p.Asn310Ser LB/B rs17265513 - ZIC1 Q15915 VAR_075867 p.Gly400Arg LP/P rs1057517670 Craniosynostosis 6 (CRS6) [MIM:616602] ZIC1 Q15915 VAR_075868 p.Thr414Ala LB/B rs143292136 - ZIC2 O95409 VAR_023793 p.Gln36Pro LP/P rs1185333947 Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_023794 p.Asp152Phe LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058592 p.Asp37Asn LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058593 p.Asp128Asn LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058594 p.Ser272Asn LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058595 p.His286Leu LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058596 p.His286Gln LP/P rs1325393230 Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058597 p.His286Tyr LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058598 p.His291Tyr LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058599 p.Trp304Arg LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058600 p.Phe314Cys LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058601 p.Arg325Leu LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058602 p.Arg325Ser LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058603 p.His327Tyr LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058604 p.Cys335Phe LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058605 p.Arg373Pro LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058606 p.Tyr402Asn LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058607 p.Thr403Lys LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058608 p.His404Arg LP/P - Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058609 p.Arg409Trp LP/P rs1594291868 Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058610 p.His415Gln LP/P rs794729641 Holoprosencephaly 5 (HPE5) [MIM:609637] ZIC3 O60481 VAR_007753 p.Thr323Met LP/P rs122462165 Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955] ZIC3 O60481 VAR_025632 p.Pro217Ala LP/P rs104894963 Congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:306955] ZIC3 O60481 VAR_025632 p.Pro217Ala LP/P rs104894963 Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955] ZIC3 O60481 VAR_025633 p.Cys253Ser LP/P rs104894961 Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955] ZIC3 O60481 VAR_025634 p.His286Arg LP/P - Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955] ZIC3 O60481 VAR_025635 p.Lys405Glu LP/P rs104894962 Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955] ZIC3 O60481 VAR_042416 p.Trp255Gly LP/P rs122463168 Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955] ZIC3 O60481 VAR_071330 p.Gly17Cys US rs147232392 Congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:306955] ZIC3 O60481 VAR_071330 p.Gly17Cys US rs147232392 Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955] ZIC3 O60481 VAR_071332 p.Ser109Cys LP/P rs373628598 Congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:306955] ZIC3 O60481 VAR_071333 p.His318Asn LP/P - VACTERL association X-linked with or without hydrocephalus (VACTERLX) [MIM:314390] ZIC3 O60481 VAR_071334 p.Ala447Gly LP/P - Congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:306955] ZIC5 Q96T25 VAR_079269 p.Ser586Phe LB/B rs201876139 - ZIM2 Q9NZV7 VAR_021896 p.Ala110Thr LB/B rs2191432 - ZIM2 Q9NZV7 VAR_052931 p.Gln408Arg LB/B rs8112407 - ZIM2 Q9NZV7 VAR_052932 p.Arg473Lys LB/B rs10422475 - ZIM3 Q96PE6 VAR_024222 p.Arg7Lys LB/B rs10407445 - ZIM3 Q96PE6 VAR_024223 p.Glu28Lys LB/B rs2370134 - ZIM3 Q96PE6 VAR_024224 p.Asn157Asp LB/B rs7252632 - ZIM3 Q96PE6 VAR_024225 p.Ile379Val LB/B rs4801433 - ZIM3 Q96PE6 VAR_033599 p.Leu69Met LB/B rs4801200 - ZIM3 Q96PE6 VAR_052933 p.Gly205Arg LB/B rs35202951 - ZKSCAN1 P17029 VAR_024839 p.Val26Ala LB/B rs17851996 - ZKSCAN2 Q63HK3 VAR_033597 p.Leu253Phe LB/B rs2112811 - ZKSCAN2 Q63HK3 VAR_033598 p.Glu615Asp LB/B rs8059494 - ZKSCAN2 Q63HK3 VAR_057460 p.Pro947Ser LB/B rs7197424 - ZKSCAN3 Q9BRR0 VAR_024208 p.Arg3Thr LB/B rs733743 - ZKSCAN3 Q9BRR0 VAR_028313 p.Gly33Val LB/B rs3857554 - ZKSCAN3 Q9BRR0 VAR_028314 p.Phe34Leu LB/B rs3857555 - ZKSCAN3 Q9BRR0 VAR_028315 p.Val189Met LB/B rs17856167 - ZKSCAN3 Q9BRR0 VAR_028316 p.Lys200Glu LB/B rs13201752 - ZKSCAN3 Q9BRR0 VAR_028317 p.Lys200Thr LB/B rs13201753 - ZKSCAN3 Q9BRR0 VAR_028318 p.His246Gln LB/B rs213227 - ZKSCAN3 Q9BRR0 VAR_059950 p.Lys200Ala LB/B rs371085669 - ZKSCAN4 Q969J2 VAR_059951 p.Ser33Phe LB/B rs9986596 - ZKSCAN7 Q9P0L1 VAR_052782 p.Arg24Cys LB/B rs35696191 - ZKSCAN7 Q9P0L1 VAR_052783 p.Phe153Ser LB/B rs13081859 - ZKSCAN7 Q9P0L1 VAR_052784 p.Thr342Ile LB/B rs34396823 - ZKSCAN7 Q9P0L1 VAR_052785 p.Glu359Lys LB/B rs34181686 - ZKSCAN7 Q9P0L1 VAR_052786 p.Thr432Ala LB/B rs9835485 - ZKSCAN7 Q9P0L1 VAR_052787 p.Thr483Ile LB/B rs9873604 - ZKSCAN7 Q9P0L1 VAR_052788 p.Ser746Phe LB/B rs34437520 - ZKSCAN8 Q15776 VAR_009877 p.Pro163Leu LB/B rs62620225 - ZMAT1 Q5H9K5 VAR_053766 p.Arg214Lys LB/B rs17282855 - ZMAT4 Q9H898 VAR_034736 p.Thr201Ala LB/B rs17851751 - ZMIZ1 Q9ULJ6 VAR_036326 p.Leu551Val US - A breast cancer sample ZMIZ1 Q9ULJ6 VAR_083438 p.Lys91Arg LP/P rs1554817910 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) [MIM:618659] ZMIZ1 Q9ULJ6 VAR_083439 p.Ala287Thr US - Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) [MIM:618659] ZMIZ1 Q9ULJ6 VAR_083440 p.Thr296Ile LP/P - Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) [MIM:618659] ZMIZ1 Q9ULJ6 VAR_083441 p.Thr296Lys LP/P rs1589579476 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) [MIM:618659] ZMIZ1 Q9ULJ6 VAR_083442 p.Thr298Ile LP/P rs1853549548 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) [MIM:618659] ZMIZ1 Q9ULJ6 VAR_083443 p.Thr300Met LP/P rs1589579500 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) [MIM:618659] ZMIZ2 Q8NF64 VAR_050536 p.Leu408Phe LB/B rs3735478 - ZMPSTE24 O75844 VAR_019308 p.Trp340Arg LP/P rs121908093 Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] ZMPSTE24 O75844 VAR_034711 p.Thr137Ala LB/B rs17853725 - ZMPSTE24 O75844 VAR_064501 p.Pro248Leu LP/P rs121908095 Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] ZMPSTE24 O75844 VAR_064502 p.Asn265Ser LP/P rs281875371 Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] ZMYM1 Q5SVZ6 VAR_034589 p.Val73Met LB/B rs2971408 - ZMYM1 Q5SVZ6 VAR_053767 p.Arg454Gln LB/B rs7552714 - ZMYM1 Q5SVZ6 VAR_053768 p.Glu493Gly LB/B rs16837197 - ZMYM2 Q9UBW7 VAR_086275 p.Glu126Ala US - - ZMYM2 Q9UBW7 VAR_086277 p.Ile387Val US - - ZMYM2 Q9UBW7 VAR_086280 p.Lys649Arg US - - ZMYM2 Q9UBW7 VAR_086282 p.Tyr763His US - - ZMYM2 Q9UBW7 VAR_086283 p.Tyr763Leu US - - ZMYM2 Q9UBW7 VAR_086284 p.Gly775Glu US - - ZMYM2 Q9UBW7 VAR_086287 p.Glu1031Lys US - - ZMYM3 Q14202 VAR_088743 p.Asp69Asn US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088744 p.Arg169Ser US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088745 p.Glu241Lys US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088746 p.Arg302His US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088747 p.Arg395Ser US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088748 p.Pro398Ser US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088749 p.Arg441Gln US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088750 p.Arg441Trp US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088751 p.Cys454Arg US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088752 p.Arg688His LP/P - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088753 p.Glu731Asp US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088754 p.Tyr752Cys US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088755 p.Ile932Val US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088756 p.Arg1124Gln US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088757 p.Tyr1137Asn US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088758 p.Ser1173Asn US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088759 p.Val1202Asp US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088760 p.Met1213Thr US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088761 p.Arg1274Trp LP/P - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088762 p.Arg1294Cys LP/P - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088763 p.Arg1324Trp US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM3 Q14202 VAR_088764 p.Met1343Ile US - Intellectual developmental disorder, X-linked 112 (XLID112) [MIM:301111] ZMYM4 Q5VZL5 VAR_034764 p.Val452Ile LB/B rs34924462 - ZMYM4 Q5VZL5 VAR_035672 p.Arg1410Trp US rs191217255 A colorectal cancer sample ZMYM5 Q9UJ78 VAR_025508 p.Ile125Val LB/B rs9579718 - ZMYM5 Q9UJ78 VAR_025509 p.Cys137Phe LB/B rs9579717 - ZMYM5 Q9UJ78 VAR_062160 p.Thr231Ala LB/B rs41292167 - ZMYM6 O95789 VAR_044432 p.Lys660Arg LB/B rs10158256 - ZMYM6 O95789 VAR_044433 p.Glu1233Lys LB/B rs16837147 - ZMYND10 O75800 VAR_014227 p.Arg407Gln US rs182064110 Non-small cell lung cancer cell lines ZMYND10 O75800 VAR_070184 p.Val16Gly LP/P rs138815960 Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444] ZMYND10 O75800 VAR_070185 p.Ser29Pro LP/P rs587621539 Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444] ZMYND10 O75800 VAR_070186 p.Leu39Pro LP/P - Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444] ZMYND10 O75800 VAR_070187 p.Leu266Pro LP/P rs200913791 Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444] ZMYND10 O75800 VAR_070188 p.Arg369Trp LB/B rs142613783 - ZMYND10 O75800 VAR_070189 p.Tyr379Cys LP/P rs753061612 Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444] ZMYND12 Q9H0C1 VAR_018425 p.Phe316Leu LB/B rs1034268 - ZMYND15 Q9H091 VAR_052992 p.Arg401His LB/B rs35005394 - ZMYND8 Q9ULU4 VAR_055559 p.Val752Ala LB/B rs2275801 - ZMYND8 Q9ULU4 VAR_087647 p.Gly230Glu US - - ZMYND8 Q9ULU4 VAR_087648 p.Trp291Arg US - - ZMYND8 Q9ULU4 VAR_087649 p.Phe307Leu US - - ZMYND8 Q9ULU4 VAR_087650 p.Lys334Glu US - - ZMYND8 Q9ULU4 VAR_087651 p.Glu980Lys US - - ZMYND8 Q9ULU4 VAR_087652 p.Cys1039Ser US - - ZMYND8 Q9ULU4 VAR_087653 p.His1054Arg US - - ZMYND8 Q9ULU4 VAR_087654 p.Trp1055Arg US - - ZNF10 P21506 VAR_052746 p.Gln227Arg LB/B rs11147259 - ZNF100 Q8IYN0 VAR_057395 p.Met8Val LB/B rs12974842 - ZNF100 Q8IYN0 VAR_060422 p.Thr389Ile LB/B rs7246400 - ZNF101 Q8IZC7 VAR_024197 p.Met121Leu LB/B rs4808209 - ZNF106 Q9H2Y7 VAR_053440 p.Trp103Arg LB/B rs12440118 - ZNF106 Q9H2Y7 VAR_053441 p.Ile646Thr LB/B rs12101559 - ZNF106 Q9H2Y7 VAR_053442 p.Met656Val LB/B rs34792942 - ZNF106 Q9H2Y7 VAR_053443 p.Pro1162Thr LB/B rs34983340 - ZNF112 Q9UJU3 VAR_057377 p.Phe159Leu LB/B rs4280359 - ZNF112 Q9UJU3 VAR_057378 p.Gly163Glu LB/B rs16978965 - ZNF112 Q9UJU3 VAR_057379 p.Thr287Lys LB/B rs10419604 - ZNF112 Q9UJU3 VAR_057380 p.Glu780Ala LB/B rs2609881 - ZNF112 Q9UJU3 VAR_060414 p.Pro54Ser LB/B rs11673395 - ZNF112 Q9UJU3 VAR_060415 p.Glu446Gln LB/B rs2722723 - ZNF112 Q9UJU3 VAR_060416 p.Tyr485His LB/B rs2722722 - ZNF114 Q8NC26 VAR_052769 p.His99Asn LB/B rs35802964 - ZNF114 Q8NC26 VAR_052770 p.Val207Ala LB/B rs16981956 - ZNF117 Q03924 VAR_057396 p.Cys83Tyr LB/B rs3807069 - ZNF117 Q03924 VAR_057397 p.Lys112Asn LB/B rs3807068 - ZNF132 P52740 VAR_012024 p.Pro252Leu LB/B rs1465789 - ZNF132 P52740 VAR_047229 p.Gly203Asp LB/B rs1122955 - ZNF133 P52736 VAR_028228 p.Ser193Thr LB/B rs1033545 - ZNF133 P52736 VAR_028229 p.Gly194Glu LB/B rs2228273 - ZNF134 P52741 VAR_052771 p.Ile30Thr LB/B rs10414451 - ZNF134 P52741 VAR_052772 p.Ala46Thr LB/B rs10413455 - ZNF134 P52741 VAR_052773 p.Ser207Arg LB/B rs34034473 - ZNF135 P52742 VAR_052774 p.Gly22Asp LB/B rs1469087 - ZNF135 P52742 VAR_052775 p.Ser507Leu LB/B rs2228277 - ZNF135 P52742 VAR_052776 p.Thr517Ala LB/B rs2228278 - ZNF135 P52742 VAR_052777 p.Gly579Arg LB/B rs2228279 - ZNF135 P52742 VAR_052778 p.Ser592Leu LB/B rs2228275 - ZNF136 P52737 VAR_033555 p.Tyr107Cys LB/B rs10425995 - ZNF137P P52743 VAR_012025 p.Gln181His LB/B rs1802617 - ZNF137P P52743 VAR_033556 p.Arg112Gln LB/B rs7250969 - ZNF138 P52744 VAR_057398 p.Gly62Glu LB/B rs10949946 - ZNF14 P17017 VAR_054791 p.Thr274Ser LB/B rs12973901 - ZNF14 P17017 VAR_057381 p.Arg379Gln LB/B rs3752153 - ZNF140 P52738 VAR_046562 p.Ala386Val LB/B rs2229373 - ZNF141 Q15928 VAR_012026 p.Arg349Lys LB/B rs955417 - ZNF141 Q15928 VAR_012027 p.Lys358Asn LB/B rs2018645 - ZNF141 Q15928 VAR_019973 p.Lys124Glu LB/B rs2229296 - ZNF141 Q15928 VAR_069637 p.Thr474Ile LP/P rs587776959 Polydactyly, postaxial A6 (PAPA6) [MIM:615226] ZNF142 P52746 VAR_047230 p.Ser751Gly LB/B rs3770214 - ZNF142 P52746 VAR_047231 p.Leu956His LB/B rs3770213 - ZNF142 P52746 VAR_047232 p.Ala1313Thr LB/B rs3821033 - ZNF142 P52746 VAR_082095 p.Cys1233Phe LP/P rs1275959058 Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) [MIM:618425] ZNF142 P52746 VAR_082097 p.Arg1500Thr LP/P - Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) [MIM:618425] ZNF143 P52747 VAR_027254 p.Glu561Gln LB/B rs10743108 - ZNF143 P52747 VAR_061937 p.Gly461Asp LB/B rs34972213 - ZNF146 Q15072 VAR_023746 p.Arg8Lys LB/B rs2070132 - ZNF154 Q13106 VAR_052779 p.Gly122Val LB/B rs2074078 - ZNF154 Q13106 VAR_052780 p.Leu182Val LB/B rs2188736 - ZNF154 Q13106 VAR_052781 p.Pro384Leu LB/B rs34746514 - ZNF154 Q13106 VAR_060678 p.His57Arg LB/B rs34282745 - ZNF155 Q12901 VAR_035571 p.His474Arg US rs1345352474 A colorectal cancer sample ZNF155 Q12901 VAR_057399 p.Lys379Arg LB/B rs2302411 - ZNF155 Q12901 VAR_060272 p.Ile157Phe LB/B rs398235 - ZNF155 Q12901 VAR_060273 p.Arg251His LB/B rs448921 - ZNF155 Q12901 VAR_069362 p.Pro231Leu LB/B rs58537897 - ZNF16 P17020 VAR_024193 p.Glu105Lys LB/B rs3735784 - ZNF16 P17020 VAR_024194 p.Arg227His LB/B rs3735786 - ZNF160 Q9HCG1 VAR_057400 p.Arg7Gln LB/B rs329709 - ZNF160 Q9HCG1 VAR_060274 p.Pro82Arg LB/B rs8105668 - ZNF169 Q14929 VAR_024198 p.Pro72Leu LB/B rs1536690 - ZNF169 Q14929 VAR_024199 p.Arg381Cys LB/B rs12236219 - ZNF169 Q14929 VAR_059065 p.Glu78Lys LB/B rs35177967 - ZNF169 Q14929 VAR_059066 p.Ser152Leu LB/B rs34433105 - ZNF169 Q14929 VAR_059067 p.Gln596His LB/B rs12350212 - ZNF17 P17021 VAR_057382 p.Thr148Lys LB/B rs2014827 - ZNF175 Q9Y473 VAR_052789 p.Cys505Arg LB/B rs3764548 - ZNF175 Q9Y473 VAR_061938 p.Tyr363Asn LB/B rs60097262 - ZNF175 Q9Y473 VAR_083478 p.Lys622Arg LB/B rs746283244 - ZNF177 Q13360 VAR_031692 p.Asp94Gly LB/B rs2230750 - ZNF177 Q13360 VAR_031693 p.Thr112Met LB/B rs2217652 - ZNF177 Q13360 VAR_057401 p.Ile455Phe LB/B rs2230752 - ZNF18 P17022 VAR_024835 p.Gln210Arg LB/B rs17857095 - ZNF18 P17022 VAR_024836 p.Met240Ile LB/B rs17853545 - ZNF180 Q9UJW8 VAR_030864 p.Val41Ala LB/B rs2571108 - ZNF180 Q9UJW8 VAR_030865 p.Cys89Trp LB/B rs2253563 - ZNF180 Q9UJW8 VAR_030866 p.Ser272Cys LB/B rs1897820 - ZNF182 P17025 VAR_077837 p.Asn62Ser US rs146965366 - ZNF184 Q99676 VAR_045989 p.Ala27Ser LB/B rs1883216 - ZNF189 O75820 VAR_025403 p.Arg221Lys LB/B rs10989492 - ZNF19 P17023 VAR_054792 p.Gln218His LB/B rs8050871 - ZNF19 P17023 VAR_054793 p.Arg224Gln LB/B rs10500557 - ZNF200 P98182 VAR_052790 p.Thr140Met LB/B rs9302870 - ZNF202 O95125 VAR_007818 p.Val154Ala LB/B rs1144507 - ZNF202 O95125 VAR_023975 p.Gly533Ala LB/B rs34111365 - ZNF205 O95201 VAR_028798 p.Thr43Ala LB/B rs909410 - ZNF205 O95201 VAR_028799 p.Ala255Asp LB/B rs12445220 - ZNF207 O43670 VAR_019974 p.Ala224Ser LB/B rs3795244 - ZNF208 O43345 VAR_052791 p.Glu282Lys LB/B rs2007506 - ZNF208 O43345 VAR_052792 p.Ser298Leu LB/B rs12462668 - ZNF208 O43345 VAR_052793 p.Glu456Gln LB/B rs7255075 - ZNF208 O43345 VAR_059903 p.Lys640Glu LB/B rs10425763 - ZNF208 O43345 VAR_059904 p.Asp1035Gly LB/B rs8108957 - ZNF211 Q13398 VAR_047278 p.Asp110Asn LB/B rs34897843 - ZNF211 Q13398 VAR_057402 p.Ala314Val LB/B rs11879465 - ZNF212 Q9UDV6 VAR_052794 p.His293Tyr LB/B rs34185245 - ZNF214 Q9UL59 VAR_019975 p.Leu128His LB/B rs1156525 - ZNF214 Q9UL59 VAR_019976 p.Ile185Arg LB/B rs2239734 - ZNF214 Q9UL59 VAR_057403 p.Tyr66Cys LB/B rs1156526 - ZNF214 Q9UL59 VAR_057404 p.His160Arg LB/B rs16921097 - ZNF215 Q9UL58 VAR_021890 p.Met376Val LB/B rs2239729 - ZNF215 Q9UL58 VAR_024200 p.Met119Val LB/B rs11041108 - ZNF215 Q9UL58 VAR_057405 p.Asn36Ser LB/B rs11041107 - ZNF215 Q9UL58 VAR_057406 p.Val38Ile LB/B rs35111903 - ZNF215 Q9UL58 VAR_057407 p.Ser263Phe LB/B rs11041115 - ZNF215 Q9UL58 VAR_060423 p.Val323Leu LB/B rs2239730 - ZNF217 O75362 VAR_035572 p.Asp323Asn US rs767530299 A colorectal cancer sample ZNF217 O75362 VAR_052795 p.Val739Ile LB/B rs6063966 - ZNF217 O75362 VAR_061939 p.Asp889Gly LB/B rs34323943 - ZNF219 Q9P2Y4 VAR_067624 p.Pro260Thr LB/B rs17853549 - ZNF22 P17026 VAR_035566 p.His129Leu US - A breast cancer sample ZNF22 P17026 VAR_052747 p.Ser65Gly LB/B rs3740093 - ZNF22-AS1 Q5T742 VAR_047102 p.Ile63Asn LB/B rs12269028 - ZNF22-AS1 Q5T742 VAR_061603 p.Pro61Leu LB/B rs41301609 - ZNF221 Q9UK13 VAR_024201 p.Pro337Ala LB/B rs435590 - ZNF221 Q9UK13 VAR_024202 p.Ser519Thr LB/B rs365745 - ZNF221 Q9UK13 VAR_024203 p.Gly557Arg LB/B rs366111 - ZNF221 Q9UK13 VAR_033557 p.Val165Met LB/B rs16976937 - ZNF221 Q9UK13 VAR_033558 p.Phe179Ile LB/B rs454301 - ZNF221 Q9UK13 VAR_033559 p.Cys256Arg LB/B rs439676 - ZNF222 Q9UK12 VAR_052796 p.Lys50Glu LB/B rs11880330 - ZNF222 Q9UK12 VAR_052797 p.Val58Phe LB/B rs7258517 - ZNF222 Q9UK12 VAR_052798 p.Gly263Asp LB/B rs8112679 - ZNF222 Q9UK12 VAR_061940 p.Arg82Gly LB/B rs59926292 - ZNF223 Q9UK11 VAR_060424 p.Leu60Ile LB/B rs4130101 - ZNF223 Q9UK11 VAR_060425 p.Leu138Ile LB/B rs6509138 - ZNF224 Q9NZL3 VAR_021891 p.Lys640Glu LB/B rs3746319 - ZNF224 Q9NZL3 VAR_024204 p.His162Leu LB/B rs4239529 - ZNF224 Q9NZL3 VAR_047061 p.Met118Val LB/B rs2068061 - ZNF224 Q9NZL3 VAR_047062 p.Lys438Asn LB/B rs3208201 - ZNF224 Q9NZL3 VAR_047063 p.His506Asp LB/B rs3746323 - ZNF224 Q9NZL3 VAR_061941 p.Gln447His LB/B rs58935748 - ZNF225 Q9UK10 VAR_033560 p.Gln50Arg LB/B rs34863330 - ZNF225 Q9UK10 VAR_033561 p.Thr679Ser LB/B rs16978738 - ZNF229 Q9UJW7 VAR_057408 p.Phe156Ser LB/B rs2571174 - ZNF229 Q9UJW7 VAR_057409 p.Arg337Cys LB/B rs12151338 - ZNF229 Q9UJW7 VAR_060426 p.Gly662Arg LB/B rs1434579 - ZNF229 Q9UJW7 VAR_060427 p.Gly804Arg LB/B rs10409807 - ZNF229 Q9UJW7 VAR_061942 p.Ser417Asn LB/B rs57014690 - ZNF23 P17027 VAR_024195 p.Ser28Gly LB/B rs2070832 - ZNF230 Q9UIE0 VAR_014827 p.Asp441Glu LB/B rs12753 - ZNF230 Q9UIE0 VAR_030534 p.Ser310Cys LB/B rs1060877 - ZNF230 Q9UIE0 VAR_030535 p.Phe434Tyr LB/B rs6413542 - ZNF232 Q9UNY5 VAR_035573 p.Ala150Val US - A colorectal cancer sample ZNF233 A6NK53 VAR_035022 p.Ser247Pro LB/B rs16978899 - ZNF233 A6NK53 VAR_035023 p.Lys531Thr LB/B rs1233428 - ZNF234 Q14588 VAR_019977 p.Val16Ile LB/B rs2293587 - ZNF234 Q14588 VAR_052799 p.Val208Met LB/B rs11668974 - ZNF235 Q14590 VAR_029806 p.His296Pro LB/B rs2125579 - ZNF236 Q9UL36 VAR_057410 p.Ser166Leu LB/B rs2276211 - ZNF236 Q9UL36 VAR_057411 p.Pro614Ser LB/B rs8093707 - ZNF236 Q9UL36 VAR_057412 p.Ser643Gly LB/B rs3794873 - ZNF236 Q9UL36 VAR_057413 p.Ala818Thr LB/B rs3752078 - ZNF236 Q9UL36 VAR_065094 p.Ile613Val LB/B rs608433 - ZNF239 Q16600 VAR_024205 p.Ala172Gly LB/B rs2230660 - ZNF239 Q16600 VAR_024206 p.Cys209Gly LB/B rs2230661 - ZNF239 Q16600 VAR_025536 p.Asp266Glu LB/B rs1128865 - ZNF24 P17028 VAR_012017 p.Asn220Ser LB/B rs2032729 - ZNF24 P17028 VAR_012018 p.Gly331Trp LB/B rs3568 - ZNF248 Q8NDW4 VAR_052800 p.Lys218Glu LB/B rs11011379 - ZNF25 P17030 VAR_035567 p.Glu21Lys US - A breast cancer sample ZNF25 P17030 VAR_035568 p.Asp81Gly US - A breast cancer sample ZNF25 P17030 VAR_052748 p.Asn453Lys LB/B rs1208606 - ZNF252P-AS1 Q0IIN9 VAR_032035 p.Leu84Ile LB/B rs2294043 - ZNF254 O75437 VAR_047461 p.Asp93Gly LB/B rs17854260 - ZNF254 O75437 VAR_047462 p.Ala386Thr LB/B rs403356 - ZNF254 O75437 VAR_047463 p.Thr457Ala LB/B rs2925930 - ZNF254 O75437 VAR_047464 p.Val594Ile LB/B rs2446056 - ZNF254 O75437 VAR_059906 p.Lys537Asn LB/B rs12611425 - ZNF256 Q9Y2P7 VAR_058326 p.Phe304Ile LB/B rs953619 - ZNF263 O14978 VAR_052801 p.Cys310Ser LB/B rs220379 - ZNF263 O14978 VAR_052802 p.Val534Ile LB/B rs34236132 - ZNF263 O14978 VAR_061943 p.Arg646Gln LB/B rs57710602 - ZNF263 O14978 VAR_084704 p.Arg646Trp US rs747714553 - ZNF264 O43296 VAR_052803 p.Arg181Thr LB/B rs2074858 - ZNF264 O43296 VAR_052804 p.Arg183His LB/B rs917340 - ZNF266 Q14584 VAR_014828 p.Pro519Leu LB/B rs10515 - ZNF267 Q14586 VAR_057414 p.Met257Val LB/B rs7202455 - ZNF267 Q14586 VAR_059907 p.Cys350Tyr LB/B rs3850114 - ZNF268 Q14587 VAR_033562 p.Thr175Met LB/B rs7975069 - ZNF273 Q14593 VAR_059077 p.Gly454Glu LB/B rs1830080 - ZNF273 Q14593 VAR_059078 p.Glu461Asp LB/B rs2017252 - ZNF274 Q96GC6 VAR_064920 p.Val147Ile LB/B rs7256349 - ZNF276 Q8N554 VAR_019125 p.Arg275Trp US - - ZNF276 Q8N554 VAR_019126 p.Glu605Asp LB/B rs17227424 - ZNF276 Q8N554 VAR_032708 p.Trp263Arg LB/B rs6500437 - ZNF276 Q8N554 VAR_032709 p.Arg351Trp LB/B rs17719249 - ZNF277 Q9NRM2 VAR_035574 p.Ile332Leu US - A breast cancer sample ZNF277 Q9NRM2 VAR_035575 p.Leu445Phe US - A breast cancer sample ZNF277 Q9NRM2 VAR_057415 p.Val364Met LB/B rs11539696 - ZNF277 Q9NRM2 VAR_059908 p.Val174Ile LB/B rs34571830 - ZNF28 P17035 VAR_036841 p.Arg179Gly LB/B rs13382164 - ZNF28 P17035 VAR_036842 p.Lys465Gln LB/B rs10417163 - ZNF28 P17035 VAR_036843 p.Met524Thr LB/B rs8107444 - ZNF280A P59817 VAR_028218 p.Asn71Lys LB/B rs361959 - ZNF280A P59817 VAR_028219 p.Ser136Asn LB/B rs362011 - ZNF280A P59817 VAR_028220 p.Ser137Tyr LB/B rs361580 - ZNF280A P59817 VAR_028221 p.Ser246Asn LB/B rs362132 - ZNF280A P59817 VAR_028222 p.Ala249Gly LB/B rs362124 - ZNF280A P59817 VAR_028223 p.Leu276Phe LB/B rs16989015 - ZNF280A P59817 VAR_028224 p.Asp278Asn LB/B rs362003 - ZNF280A P59817 VAR_028225 p.Leu486Phe LB/B rs361762 - ZNF280A P59817 VAR_028226 p.Ser488Arg LB/B rs361666 - ZNF280B Q86YH2 VAR_028013 p.Ala256Glu LB/B rs2236729 - ZNF280B Q86YH2 VAR_028014 p.Val522Gly LB/B rs12484816 - ZNF280D Q6N043 VAR_054314 p.Val568Ile LB/B rs28620278 - ZNF280D Q6N043 VAR_054315 p.Ala778Val LB/B rs12900993 - ZNF280D Q6N043 VAR_054316 p.Lys781Ile LB/B rs12901843 - ZNF280D Q6N043 VAR_054317 p.Gly785Ala LB/B rs12900729 - ZNF281 Q9Y2X9 VAR_035576 p.Ile527Thr US - A breast cancer sample ZNF282 Q9UDV7 VAR_052805 p.Met273Val LB/B rs1202418 - ZNF283 Q8N7M2 VAR_057416 p.Arg629His LB/B rs1061768 - ZNF283 Q8N7M2 VAR_057417 p.Arg646Ile LB/B rs10417624 - ZNF283 Q8N7M2 VAR_060605 p.Thr314Ile LB/B rs2195980 - ZNF283 Q8N7M2 VAR_060606 p.Cys638Arg LB/B rs2356437 - ZNF283 Q8N7M2 VAR_060607 p.Cys638Tyr LB/B rs1061769 - ZNF284 Q2VY69 VAR_031135 p.Lys546Glu LB/B rs8113249 - ZNF284 Q2VY69 VAR_059909 p.Glu577Lys LB/B rs8113249 - ZNF285 Q96NJ3 VAR_057972 p.Ser208Asn LB/B rs2571089 - ZNF285 Q96NJ3 VAR_057973 p.Gly536Arg LB/B rs12610859 - ZNF286A Q9HBT8 VAR_021892 p.Tyr90His LB/B rs3760299 - ZNF287 Q9HBT7 VAR_024207 p.Lys281Thr LB/B rs7224723 - ZNF292 O60281 VAR_062972 p.Ile1740Val LB/B rs9362415 - ZNF292 O60281 VAR_062973 p.Val2045Ile LB/B rs6910541 - ZNF292 O60281 VAR_085260 p.Ile470Val US rs1166797338 Intellectual developmental disorder, autosomal dominant 64 (MRD64) [MIM:619188] ZNF292 O60281 VAR_085269 p.Tyr2193Ser US rs1554208945 Intellectual developmental disorder, autosomal dominant 64 (MRD64) [MIM:619188] ZNF3 P17036 VAR_052743 p.Ile102Thr LB/B rs11550034 - ZNF30 P17039 VAR_047736 p.Gln123Arg LB/B rs1811 - ZNF30 P17039 VAR_047737 p.Ala190Thr LB/B rs8100497 - ZNF30 P17039 VAR_047738 p.Arg379Lys LB/B rs1345658 - ZNF30 P17039 VAR_047739 p.Tyr400Cys LB/B rs765746 - ZNF300 Q96RE9 VAR_012355 p.Gln336His LB/B rs1988688 - ZNF304 Q9HCX3 VAR_019979 p.Leu121Pro LB/B rs862708 - ZNF304 Q9HCX3 VAR_033563 p.Lys367Glu LB/B rs862709 - ZNF311 Q5JNZ3 VAR_031136 p.Arg486Cys LB/B rs9295783 - ZNF311 Q5JNZ3 VAR_031137 p.Lys511Gln LB/B rs6456880 - ZNF317 Q96PQ6 VAR_019980 p.Gln19His LB/B rs3752199 - ZNF318 Q5VUA4 VAR_036056 p.Asn812Ser US rs141660717 A breast cancer sample ZNF318 Q5VUA4 VAR_036057 p.Gly1274Arg US - A breast cancer sample ZNF318 Q5VUA4 VAR_053759 p.Ser407Ile LB/B rs34541323 - ZNF318 Q5VUA4 VAR_053760 p.Leu870Val LB/B rs9357410 - ZNF318 Q5VUA4 VAR_053761 p.Thr1292Ile LB/B rs10948072 - ZNF318 Q5VUA4 VAR_053762 p.Ala1580Thr LB/B rs3734684 - ZNF318 Q5VUA4 VAR_053763 p.Thr1583Ile LB/B rs36107018 - ZNF318 Q5VUA4 VAR_053764 p.Val1797Ala LB/B rs1459675 - ZNF324B Q6AW86 VAR_052811 p.Ser63Gly LB/B rs12611254 - ZNF329 Q86UD4 VAR_035403 p.Asn182Asp LB/B rs34255209 - ZNF329 Q86UD4 VAR_060428 p.Ser99Asn LB/B rs2279333 - ZNF330 Q9Y3S2 VAR_051500 p.Thr28Ala LB/B rs35353789 - ZNF330 Q9Y3S2 VAR_051501 p.Leu298Met LB/B rs34631212 - ZNF333 Q96JL9 VAR_024210 p.Ala251Glu LB/B rs3885179 - ZNF333 Q96JL9 VAR_052812 p.Ala537Val LB/B rs3764626 - ZNF334 Q9HCZ1 VAR_052813 p.Asn547Ser LB/B rs3764690 - ZNF335 Q9H4Z2 VAR_024211 p.Ser294Thr LB/B rs6032606 - ZNF335 Q9H4Z2 VAR_047560 p.Arg65Cys LB/B rs6130982 - ZNF335 Q9H4Z2 VAR_047561 p.Gly101Ser LB/B rs6094231 - ZNF335 Q9H4Z2 VAR_047562 p.Tyr603His LB/B rs16990961 - ZNF335 Q9H4Z2 VAR_069469 p.Arg1111His LP/P rs397514642 Microcephaly 10, primary, autosomal recessive (MCPH10) [MIM:615095] ZNF337 Q9Y3M9 VAR_024213 p.Val17Ile LB/B rs926487 - ZNF337 Q9Y3M9 VAR_052814 p.Arg467Gly LB/B rs16987972 - ZNF33A Q06730 VAR_052749 p.Gln549Glu LB/B rs2505232 - ZNF33A Q06730 VAR_052750 p.Gly614Arg LB/B rs12256916 - ZNF33A Q06730 VAR_052751 p.Asp804His LB/B rs10508862 - ZNF33B Q06732 VAR_024192 p.Arg145Cys LB/B rs210280 - ZNF33B Q06732 VAR_052752 p.His356Arg LB/B rs7914982 - ZNF343 Q6P1L6 VAR_059912 p.Pro520Leu LB/B rs6049415 - ZNF347 Q96SE7 VAR_052815 p.Met117Val LB/B rs34656962 - ZNF347 Q96SE7 VAR_059913 p.Asn264Asp LB/B rs2195310 - ZNF350 Q9GZX5 VAR_019902 p.Leu66Pro LB/B rs2278420 - ZNF350 Q9GZX5 VAR_019903 p.Ser472Pro LB/B rs4986771 - ZNF350 Q9GZX5 VAR_019904 p.Arg501Ser LB/B rs2278415 - ZNF350 Q9GZX5 VAR_019905 p.Val524Ile LB/B rs4988337 - ZNF350 Q9GZX5 VAR_046718 p.Met37Ile LB/B rs4987241 - ZNF350 Q9GZX5 VAR_046719 p.Ile69Thr LB/B rs4987042 - ZNF350 Q9GZX5 VAR_046720 p.Arg132Cys LB/B rs28997584 - ZNF350 Q9GZX5 VAR_046721 p.Glu406Lys LB/B rs3764539 - ZNF354C Q86Y25 VAR_031138 p.Glu250Lys LB/B rs17855823 - ZNF354C Q86Y25 VAR_031139 p.Phe546Leu LB/B rs1445846 - ZNF354C Q86Y25 VAR_031140 p.Glu553Lys LB/B rs1445845 - ZNF358 Q9NW07 VAR_061944 p.Asn32Ser LB/B rs11555037 - ZNF365 Q70YC4 VAR_024326 p.Thr62Ala LB/B rs7076156 - ZNF365 Q70YC5 VAR_024325 p.Ala337Ser LB/B rs3758490 - ZNF366 Q8N895 VAR_033564 p.Ala739Gly LB/B rs13188519 - ZNF37A P17032 VAR_052753 p.Asp105Asn LB/B rs2021319 - ZNF382 Q96SR6 VAR_054226 p.Glu168Gly LB/B rs3108171 - ZNF385B Q569K4 VAR_053765 p.Ser242Gly LB/B rs2271761 - ZNF385B Q569K4 VAR_076447 p.Phe416Tyr LB/B - - ZNF385D Q9H6B1 VAR_036058 p.Ala386Thr US rs757067821 A colorectal cancer sample ZNF385D Q9H6B1 VAR_036059 p.His387Gln US - A colorectal cancer sample ZNF391 Q9UJN7 VAR_034774 p.Lys51Arg LB/B rs10807020 - ZNF391 Q9UJN7 VAR_034775 p.Gly59Cys LB/B rs10807021 - ZNF394 Q53GI3 VAR_052816 p.Thr325Met LB/B rs3735454 - ZNF396 Q96N95 VAR_057418 p.His211Leu LB/B rs9963473 - ZNF398 Q8TD17 VAR_052817 p.Glu87Asp LB/B rs3801979 - ZNF398 Q8TD17 VAR_052818 p.Ser294Leu LB/B rs2240370 - ZNF404 Q494X3 VAR_057419 p.His233Tyr LB/B rs12977303 - ZNF404 Q494X3 VAR_070605 p.Gly337Ser LB/B rs239942 - ZNF407 Q9C0G0 VAR_036694 p.Asn972Thr LB/B rs948615 - ZNF407 Q9C0G0 VAR_052820 p.Asn69Ser LB/B rs3794942 - ZNF407 Q9C0G0 VAR_052821 p.Gly512Arg LB/B rs7227263 - ZNF407 Q9C0G0 VAR_052822 p.Ala1913Thr LB/B rs17056248 - ZNF407 Q9C0G0 VAR_061945 p.Ser1259Leu LB/B rs34048449 - ZNF407 Q9C0G0 VAR_086433 p.Gly802Val US rs370360193 Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies (SIMHA) [MIM:619557] ZNF407 Q9C0G0 VAR_086435 p.Arg962Gly US rs372318044 Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies (SIMHA) [MIM:619557] ZNF407 Q9C0G0 VAR_086436 p.Lys1214Asn US rs1437942074 Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies (SIMHA) [MIM:619557] ZNF407 Q9C0G0 VAR_086437 p.Ser1685Trp LP/P - Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies (SIMHA) [MIM:619557] ZNF408 Q9H9D4 VAR_052823 p.Arg337Pro LB/B rs36017347 - ZNF408 Q9H9D4 VAR_074612 p.Ser126Asn US rs536561101 Vitreoretinopathy, exudative 6 (EVR6) [MIM:616468] ZNF408 Q9H9D4 VAR_074613 p.His455Tyr LP/P rs373273223 Vitreoretinopathy, exudative 6 (EVR6) [MIM:616468] ZNF408 Q9H9D4 VAR_074614 p.Gly492Arg LB/B rs561740128 - ZNF408 Q9H9D4 VAR_074615 p.Arg541Cys LP/P rs781192528 Retinitis pigmentosa 72 (RP72) [MIM:616469] ZNF408 Q9H9D4 VAR_074616 p.Gln583Lys LB/B - - ZNF41 P51814 VAR_021785 p.Pro153Leu US rs104894955 - ZNF41 P51814 VAR_021786 p.Ile167Arg LB/B rs17147624 - ZNF41 P51814 VAR_021787 p.Asp357Glu LB/B rs2498170 - ZNF414 Q96IQ9 VAR_026847 p.Gln65Arg LB/B rs8100431 - ZNF414 Q96IQ9 VAR_026848 p.Pro77Ser LB/B rs1064010 - ZNF415 Q09FC8 VAR_032166 p.His196Pro LB/B rs16984466 - ZNF415 Q09FC8 VAR_032167 p.Ile229Leu LB/B rs1054485 - ZNF415 Q09FC8 VAR_032168 p.Ile233Val LB/B rs1133327 - ZNF415 Q09FC8 VAR_032169 p.Tyr241Cys LB/B rs1560099 - ZNF415 Q09FC8 VAR_032170 p.Asn463Asp LB/B rs10410030 - ZNF417 Q8TAU3 VAR_060275 p.Asn495Ser LB/B rs10416584 - ZNF419 Q96HQ0 VAR_046651 p.Glu141Gln LB/B rs2074076 - ZNF419 Q96HQ0 VAR_046652 p.Ile336Val LB/B rs2074077 - ZNF423 Q2M1K9 VAR_036844 p.Asn629Ser LB/B rs34214571 - ZNF423 Q2M1K9 VAR_068501 p.Pro913Leu LP/P rs200585917 Nephronophthisis 14 (NPHP14) [MIM:614844] ZNF423 Q2M1K9 VAR_068502 p.His1277Tyr LP/P rs1596988259 Joubert syndrome 19 (JBTS19) [MIM:614844] ZNF425 Q6IV72 VAR_033565 p.Asp166Val LB/B rs6965052 - ZNF426 Q9BUY5 VAR_024214 p.Ala4Val LB/B rs2042200 - ZNF426 Q9BUY5 VAR_052824 p.Thr219Ala LB/B rs10420644 - ZNF429 Q86V71 VAR_047848 p.His650Tyr LB/B rs2562473 - ZNF43 P17038 VAR_035569 p.Arg244Cys US rs200399581 A colorectal cancer sample ZNF43 P17038 VAR_054794 p.Ser718Pro LB/B rs1063327 - ZNF431 Q8TF32 VAR_052825 p.Asp3Gly LB/B rs17445374 - ZNF432 O94892 VAR_035577 p.Leu416Val US - A breast cancer sample ZNF432 O94892 VAR_035578 p.Cys490Tyr US rs755035378 A breast cancer sample ZNF436 Q9C0F3 VAR_035579 p.Cys196Gly US - A breast cancer sample ZNF438 Q7Z4V0 VAR_027013 p.Pro173Ser LB/B rs10160116 - ZNF438 Q7Z4V0 VAR_035580 p.Lys381Asn US - A breast cancer sample ZNF438 Q7Z4V0 VAR_061946 p.Leu693Val LB/B rs35346752 - ZNF439 Q8NDP4 VAR_024216 p.Leu427Ser LB/B rs10500209 - ZNF439 Q8NDP4 VAR_052827 p.Pro6Ser LB/B rs10421552 - ZNF44 P15621 VAR_047425 p.Gly92Ala LB/B rs11882046 - ZNF44 P15621 VAR_047426 p.Thr212Ala LB/B rs11879168 - ZNF440 Q8IYI8 VAR_052828 p.Pro88Arg LB/B rs448446 - ZNF440 Q8IYI8 VAR_052829 p.Ser569Asn LB/B rs400106 - ZNF440 Q8IYI8 VAR_059915 p.Leu43Ile LB/B rs424132 - ZNF440 Q8IYI8 VAR_059916 p.Asn124Ser LB/B rs427880 - ZNF442 Q9H7R0 VAR_024217 p.Pro110Thr LB/B rs10415207 - ZNF442 Q9H7R0 VAR_024218 p.Arg443Cys LB/B rs10500210 - ZNF442 Q9H7R0 VAR_035581 p.Pro152Ser US rs10414971 A colorectal cancer sample ZNF442 Q9H7R0 VAR_035582 p.Cys243Ser US rs757755988 A colorectal cancer sample ZNF442 Q9H7R0 VAR_052830 p.Ile93Val LB/B rs10423273 - ZNF442 Q9H7R0 VAR_052831 p.Gly422Arg LB/B rs11085808 - ZNF442 Q9H7R0 VAR_064763 p.His590Leu US - - ZNF443 Q9Y2A4 VAR_057420 p.Pro591Gln LB/B rs7256321 - ZNF443 Q9Y2A4 VAR_059917 p.Lys111Asn LB/B rs4239550 - ZNF443 Q9Y2A4 VAR_059918 p.Cys485Phe LB/B rs10422063 - ZNF443 Q9Y2A4 VAR_061947 p.Lys111Ile LB/B rs28599549 - ZNF443 Q9Y2A4 VAR_061948 p.Gln397His LB/B rs35699767 - ZNF445 P59923 VAR_052832 p.Tyr428Cys LB/B rs11710965 - ZNF446 Q9NWS9 VAR_033566 p.Asn192His LB/B rs893185 - ZNF446 Q9NWS9 VAR_033567 p.Pro300Ser LB/B rs36095067 - ZNF446 Q9NWS9 VAR_052833 p.Arg387His LB/B rs882610 - ZNF45 Q02386 VAR_012019 p.Ala187Thr LB/B rs1047452 - ZNF45 Q02386 VAR_012020 p.Arg255Lys LB/B rs399098 - ZNF45 Q02386 VAR_012021 p.Thr299Ala LB/B rs388706 - ZNF45 Q02386 VAR_012022 p.Pro303Arg LB/B rs388685 - ZNF45 Q02386 VAR_012023 p.Arg504Lys LB/B rs407731 - ZNF454 Q8N9F8 VAR_033568 p.Asp166Ala LB/B rs12719860 - ZNF454 Q8N9F8 VAR_059919 p.Cys152Tyr LB/B rs6867221 - ZNF461 Q8TAF7 VAR_052834 p.Asn87Ser LB/B rs10419469 - ZNF462 Q96JM2 VAR_058301 p.Met404Val LB/B rs17723637 - ZNF462 Q96JM2 VAR_058302 p.Pro1187Ser LB/B rs3814541 - ZNF462 Q96JM2 VAR_058303 p.Asn1828Ser LB/B rs3814538 - ZNF462 Q96JM2 VAR_058304 p.Lys2052Arg LB/B rs7020769 - ZNF462 Q96JM2 VAR_058305 p.His2452Leu LB/B rs10217192 - ZNF467 Q7Z7K2 VAR_052835 p.Thr324Ala LB/B rs6965332 - ZNF468 Q5VIY5 VAR_031141 p.His374Arg LB/B rs12462929 - ZNF468 Q5VIY5 VAR_031142 p.Gly477Arg LB/B rs10419826 - ZNF469 Q96JG9 VAR_033285 p.Arg366Ser LB/B rs11640794 - ZNF469 Q96JG9 VAR_033286 p.Lys1190Glu LB/B rs7197071 - ZNF469 Q96JG9 VAR_033287 p.Pro1448Leu LB/B rs4782300 - ZNF469 Q96JG9 VAR_033288 p.Arg2157Lys LB/B rs13334190 - ZNF469 Q96JG9 VAR_033289 p.Gly2386Arg LB/B rs12598474 - ZNF469 Q96JG9 VAR_033290 p.Leu2698Gln LB/B rs3812956 - ZNF469 Q96JG9 VAR_033291 p.Ala2738Thr LB/B rs3812955 - ZNF469 Q96JG9 VAR_033292 p.Asp2777Val LB/B rs3812954 - ZNF469 Q96JG9 VAR_033293 p.His2876Arg LB/B rs1983014 - ZNF469 Q96JG9 VAR_033294 p.Glu3658Gln LB/B rs1105066 - ZNF469 Q96JG9 VAR_033295 p.Ala3664Thr LB/B rs904783 - ZNF469 Q96JG9 VAR_061949 p.Ser357Pro LB/B rs11648572 - ZNF470 Q6ECI4 VAR_031143 p.Val23Leu LB/B rs10421285 - ZNF470 Q6ECI4 VAR_031144 p.Lys254Arg LB/B rs3752179 - ZNF470 Q6ECI4 VAR_031145 p.Thr418Ile LB/B rs4801177 - ZNF470 Q6ECI4 VAR_061950 p.Ile642Thr LB/B rs35077804 - ZNF471 Q9BX82 VAR_035583 p.Phe361Cys US - A colorectal cancer sample ZNF471 Q9BX82 VAR_052836 p.Met192Ile LB/B rs11667052 - ZNF471 Q9BX82 VAR_052837 p.Gly406Asp LB/B rs3752176 - ZNF471 Q9BX82 VAR_052838 p.Ser556Cys LB/B rs16987303 - ZNF471 Q9BX82 VAR_061951 p.Gln309Arg LB/B rs45487092 - ZNF473 Q8WTR7 VAR_052839 p.Ser59Gly LB/B rs10419876 - ZNF473 Q8WTR7 VAR_052840 p.Ser74Gly LB/B rs10419911 - ZNF473 Q8WTR7 VAR_052841 p.Thr164Met LB/B rs16981705 - ZNF473 Q8WTR7 VAR_052842 p.Glu309Gly LB/B rs16981706 - ZNF473 Q8WTR7 VAR_052843 p.Thr654Ile LB/B rs10424809 - ZNF473 Q8WTR7 VAR_052844 p.Ser662Ala LB/B rs10426374 - ZNF474 Q6S9Z5 VAR_031146 p.Arg173His LB/B rs2560306 - ZNF48 Q96MX3 VAR_052758 p.Ala65Val LB/B rs12921440 - ZNF48 Q96MX3 VAR_052759 p.Ile224Val LB/B rs34843513 - ZNF48 Q96MX3 VAR_059894 p.Gln21Arg LB/B rs7200143 - ZNF480 Q8WV37 VAR_033569 p.Pro177Ser LB/B rs13343641 - ZNF480 Q8WV37 VAR_035584 p.His361Gln US - A colorectal cancer sample ZNF484 Q5JVG2 VAR_033570 p.Gly502Asp LB/B rs3739602 - ZNF485 Q8NCK3 VAR_059920 p.Ala252Thr LB/B rs12354886 - ZNF487 B1APH4 VAR_045635 p.Pro61Arg LB/B rs11816311 - ZNF487 B1APH4 VAR_045636 p.Arg120Ser LB/B rs11598660 - ZNF488 Q96MN9 VAR_033571 p.Ala72Val LB/B rs35618062 - ZNF488 Q96MN9 VAR_033572 p.Pro106Leu LB/B rs12251609 - ZNF488 Q96MN9 VAR_033573 p.Pro249Ser LB/B rs3814160 - ZNF492 Q9P255 VAR_052845 p.Thr106Lys LB/B rs11672238 - ZNF493 Q6ZR52 VAR_052846 p.Cys195Phe LB/B rs4621113 - ZNF493 Q6ZR52 VAR_052847 p.Leu292Val LB/B rs10414834 - ZNF497 Q6ZNH5 VAR_055270 p.His174Gln LB/B rs12609654 - ZNF501 Q96CX3 VAR_024219 p.Met17Val LB/B rs4682752 - ZNF501 Q96CX3 VAR_061952 p.Ile147Val LB/B rs58211979 - ZNF502 Q8TBZ5 VAR_024220 p.Glu243Ala LB/B rs7640654 - ZNF502 Q8TBZ5 VAR_033574 p.Leu28Pro LB/B rs6798400 - ZNF502 Q8TBZ5 VAR_061953 p.Gln174Arg LB/B rs56084453 - ZNF503 Q96F45 VAR_032951 p.Asn509Lys LB/B rs35764982 - ZNF506 Q5JVG8 VAR_057421 p.Thr189Pro LB/B rs16996376 - ZNF510 Q9Y2H8 VAR_019982 p.Gln43Arg LB/B rs2289651 - ZNF510 Q9Y2H8 VAR_021893 p.Cys89Arg LB/B rs3780548 - ZNF510 Q9Y2H8 VAR_052848 p.Asn273Lys LB/B rs10217154 - ZNF510 Q9Y2H8 VAR_052849 p.His398Asp LB/B rs11999094 - ZNF510 Q9Y2H8 VAR_052850 p.Met401Ile LB/B rs10217494 - ZNF510 Q9Y2H8 VAR_052851 p.Gly634Glu LB/B rs10119874 - ZNF512B Q96KM6 VAR_024226 p.Met372Val LB/B rs817326 - ZNF512B Q96KM6 VAR_024227 p.Ala453Thr LB/B rs6062599 - ZNF512B Q96KM6 VAR_061954 p.Val288Met LB/B rs45486695 - ZNF513 Q8N8E2 VAR_064926 p.Cys339Arg LP/P rs267607182 Retinitis pigmentosa 58 (RP58) [MIM:613617] ZNF516 Q92618 VAR_052852 p.Asn4Ser LB/B rs3752097 - ZNF516 Q92618 VAR_052853 p.Gly239Ser LB/B rs12961584 - ZNF517 Q6ZMY9 VAR_057425 p.Pro6Leu LB/B rs2976649 - ZNF518A Q6AHZ1 VAR_046310 p.Asn946His LB/B rs3814228 - ZNF518A Q6AHZ1 VAR_046311 p.Arg1328Gln LB/B rs3814226 - ZNF518B Q9C0D4 VAR_038491 p.Ser105Pro LB/B rs10016702 - ZNF518B Q9C0D4 VAR_038492 p.Ser523Asn LB/B rs9291410 - ZNF518B Q9C0D4 VAR_061955 p.Gly92Ser LB/B rs10007352 - ZNF519 Q8TB69 VAR_052854 p.Trp18Arg LB/B rs16941623 - ZNF519 Q8TB69 VAR_052855 p.Gly89Ser LB/B rs10221432 - ZNF519 Q8TB69 VAR_052856 p.Lys206Glu LB/B rs2159940 - ZNF519 Q8TB69 VAR_052857 p.Arg229Ile LB/B rs8094412 - ZNF526 Q8TF50 VAR_035331 p.Val94Ala LB/B rs3810151 - ZNF526 Q8TF50 VAR_035332 p.Ser511Phe LB/B rs17850994 - ZNF526 Q8TF50 VAR_087342 p.Lys160Thr US rs730882205 Dentici-Novelli neurodevelopmental syndrome (DENNED) [MIM:619877] ZNF526 Q8TF50 VAR_087343 p.His409Gln US - Dentici-Novelli neurodevelopmental syndrome (DENNED) [MIM:619877] ZNF528 Q3MIS6 VAR_052858 p.Ser419Asn LB/B rs324109 - ZNF529 Q6P280 VAR_031147 p.Leu131Val LB/B rs2912444 - ZNF530 Q6P9A1 VAR_035144 p.Thr64Ala LB/B rs9677004 - ZNF530 Q6P9A1 VAR_035145 p.His110Gln LB/B rs2360543 - ZNF530 Q6P9A1 VAR_035146 p.Ser124Pro LB/B rs17855076 - ZNF530 Q6P9A1 VAR_035147 p.Thr169Met LB/B rs11883343 - ZNF530 Q6P9A1 VAR_035148 p.Gly262Ser LB/B rs9676259 - ZNF532 Q9HCE3 VAR_034846 p.Glu761Asp LB/B rs3737506 - ZNF532 Q9HCE3 VAR_035585 p.Ser822Leu US rs771503724 A breast cancer sample ZNF540 Q8NDQ6 VAR_033575 p.Asp53Val LB/B rs1975937 - ZNF540 Q8NDQ6 VAR_035586 p.Lys275Ile US - A colorectal cancer sample ZNF540 Q8NDQ6 VAR_069366 p.Gly340Arg LB/B rs571893947 - ZNF541 Q9H0D2 VAR_035717 p.Ser712Leu US - A breast cancer sample ZNF541 Q9H0D2 VAR_054220 p.Pro486Ser LB/B rs3810320 - ZNF541 Q9H0D2 VAR_054221 p.Lys791Glu LB/B rs34984302 - ZNF541 Q9H0D2 VAR_054222 p.Thr795Ser LB/B rs3826835 - ZNF543 Q08ER8 VAR_032171 p.Pro55Ala LB/B rs6510057 - ZNF543 Q08ER8 VAR_032172 p.Gln107Arg LB/B rs8100491 - ZNF543 Q08ER8 VAR_032173 p.Leu246His LB/B rs1968090 - ZNF543 Q08ER8 VAR_032174 p.Glu287Val LB/B rs35238720 - ZNF543 Q08ER8 VAR_032175 p.Val439Asp LB/B rs10411486 - ZNF543 Q08ER8 VAR_032176 p.Met573Val LB/B rs10410649 - ZNF544 Q6NX49 VAR_052859 p.His203Asp LB/B rs6510130 - ZNF544 Q6NX49 VAR_052860 p.Gln700Arg LB/B rs260462 - ZNF546 Q86UE3 VAR_035587 p.Leu15Val US - A breast cancer sample ZNF546 Q86UE3 VAR_055271 p.Gln201Arg LB/B rs17854378 - ZNF546 Q86UE3 VAR_055272 p.Arg243Thr LB/B rs2111543 - ZNF546 Q86UE3 VAR_055273 p.Ala253Val LB/B rs2111544 - ZNF546 Q86UE3 VAR_055274 p.Val298Glu LB/B rs17710336 - ZNF546 Q86UE3 VAR_055275 p.Glu427Gly LB/B rs12460371 - ZNF546 Q86UE3 VAR_055276 p.Leu452Phe LB/B rs7255186 - ZNF546 Q86UE3 VAR_055277 p.Leu652Phe LB/B rs12373540 - ZNF548 Q8NEK5 VAR_026845 p.Ala58Ser LB/B rs17856896 - ZNF548 Q8NEK5 VAR_026846 p.Ala73Thr LB/B rs4801478 - ZNF549 Q6P9A3 VAR_059921 p.Ile8Asn LB/B rs12461014 - ZNF550 Q7Z398 VAR_026294 p.Ile359Thr LB/B rs1548476 - ZNF551 Q7Z340 VAR_028077 p.Asn218Ser LB/B rs10413864 - ZNF551 Q7Z340 VAR_028078 p.Arg550Trp LB/B rs12611105 - ZNF552 Q9H707 VAR_032177 p.Trp242Cys LB/B rs2288538 - ZNF554 Q86TJ5 VAR_052861 p.Glu190Gly LB/B rs867168 - ZNF554 Q86TJ5 VAR_052862 p.Val211Ile LB/B rs867169 - ZNF555 Q8NEP9 VAR_026295 p.Lys515Thr LB/B rs17856648 - ZNF555 Q8NEP9 VAR_054223 p.Asn107Asp LB/B rs17856649 - ZNF555 Q8NEP9 VAR_054224 p.Pro137Leu LB/B rs36012545 - ZNF555 Q8NEP9 VAR_054225 p.His194Asn LB/B rs17851955 - ZNF556 Q9HAH1 VAR_030355 p.Arg137Cys LB/B rs10421121 - ZNF556 Q9HAH1 VAR_052863 p.Arg146Leu LB/B rs35499960 - ZNF556 Q9HAH1 VAR_052864 p.Ala353Thr LB/B rs35296337 - ZNF556 Q9HAH1 VAR_052865 p.Glu428Lys LB/B rs35494032 - ZNF559 Q9BR84 VAR_033576 p.Thr251Asn LB/B rs16979670 - ZNF560 Q96MR9 VAR_035588 p.Gly186Glu US - A colorectal cancer sample ZNF560 Q96MR9 VAR_052866 p.Tyr630Cys LB/B rs10416098 - ZNF562 Q6V9R5 VAR_023936 p.Phe178Leu LB/B rs1163497365 - ZNF562 Q6V9R5 VAR_023937 p.Lys205Glu LB/B rs1059199 - ZNF562 Q6V9R5 VAR_059922 p.Glu260Lys LB/B rs1059199 - ZNF565 Q8N9K5 VAR_023938 p.Ile228Thr LB/B rs4805162 - ZNF568 Q3ZCX4 VAR_052867 p.Met437Thr LB/B rs547483 - ZNF568 Q3ZCX4 VAR_052868 p.Gln642Arg LB/B rs1644634 - ZNF569 Q5MCW4 VAR_035589 p.Gln29Glu US - A breast cancer sample ZNF569 Q5MCW4 VAR_035590 p.Glu87Gly US rs1349967796 A breast cancer sample ZNF57 Q68EA5 VAR_052760 p.Thr223Asn LB/B rs2288958 - ZNF57 Q68EA5 VAR_052761 p.Arg230Trp LB/B rs2288957 - ZNF57 Q68EA5 VAR_061931 p.Thr357Met LB/B rs55682587 - ZNF571 Q7Z3V5 VAR_023953 p.Gln189His LB/B rs8111790 - ZNF571 Q7Z3V5 VAR_023954 p.Glu252Asp LB/B rs28512414 - ZNF571 Q7Z3V5 VAR_023955 p.Leu573His LB/B rs4802029 - ZNF571 Q7Z3V5 VAR_031093 p.Lys593Glu LB/B rs16973890 - ZNF571 Q7Z3V5 VAR_052869 p.Lys170Met LB/B rs16973893 - ZNF572 Q7Z3I7 VAR_027664 p.Lys317Thr LB/B rs10104558 - ZNF572 Q7Z3I7 VAR_027665 p.Gly380Glu LB/B rs10105106 - ZNF572 Q7Z3I7 VAR_027666 p.Ser448Cys LB/B rs10107774 - ZNF572 Q7Z3I7 VAR_027667 p.Val500Ile LB/B rs7825375 - ZNF572 Q7Z3I7 VAR_035591 p.Cys512Phe US - A colorectal cancer sample ZNF573 Q86YE8 VAR_030356 p.Gly186Ala LB/B rs3752365 - ZNF573 Q86YE8 VAR_057426 p.Gly224Ala LB/B rs3752365 - ZNF574 Q6ZN55 VAR_030351 p.Arg332Gln LB/B rs3745226 - ZNF574 Q6ZN55 VAR_030352 p.Arg785Gln LB/B rs3745228 - ZNF574 Q6ZN55 VAR_052870 p.Thr711Ser LB/B rs35898322 - ZNF576 Q9H609 VAR_023956 p.Pro81Leu LB/B rs17849705 - ZNF577 Q9BSK1 VAR_033577 p.Arg357Ser LB/B rs9807853 - ZNF577 Q9BSK1 VAR_055139 p.Ala84Val LB/B rs17856123 - ZNF577 Q9BSK1 VAR_055140 p.Arg123Cys LB/B rs17849895 - ZNF577 Q9BSK1 VAR_055141 p.Arg234Lys LB/B rs9807847 - ZNF577 Q9BSK1 VAR_055142 p.Lys246Glu LB/B rs2288868 - ZNF577 Q9BSK1 VAR_055143 p.Arg346Cys LB/B rs9807842 - ZNF577 Q9BSK1 VAR_055144 p.Glu373Lys LB/B rs10407547 - ZNF577 Q9BSK1 VAR_055145 p.Thr375Ile LB/B rs10407911 - ZNF578 Q96N58 VAR_069167 p.Glu238Lys LB/B rs161931 - ZNF579 Q8NAF0 VAR_061956 p.Glu353Asp LB/B rs10403008 - ZNF582 Q96NG8 VAR_033578 p.Arg69Thr LB/B rs11883260 - ZNF582 Q96NG8 VAR_070557 p.Trp65Gly US rs369155373 - ZNF582 Q96NG8 VAR_070558 p.Gly345Glu US rs149022328 - ZNF583 Q96ND8 VAR_027978 p.Phe324Ile LB/B rs12976917 - ZNF584 Q8IVC4 VAR_033579 p.Pro142Ser LB/B rs11668789 - ZNF584 Q8IVC4 VAR_033580 p.Thr301Ala LB/B rs7257872 - ZNF585B Q52M93 VAR_059923 p.Val467Ile LB/B rs1657509 - ZNF589 Q86UQ0 VAR_035290 p.Thr216Arg LB/B rs11718329 - ZNF589 Q86UQ0 VAR_052871 p.Thr12Ala LB/B rs9847953 - ZNF592 Q92610 VAR_047033 p.Ser926Asn LB/B rs8182086 - ZNF592 Q92610 VAR_064583 p.Gly1046Arg US rs150829393 - ZNF593 O00488 VAR_059924 p.Arg6Gln LB/B rs2232649 - ZNF594 Q96JF6 VAR_035333 p.Ile171Thr LB/B rs9908414 - ZNF594 Q96JF6 VAR_035334 p.Val199Gly LB/B rs3853648 - ZNF594 Q96JF6 VAR_061957 p.Gln166His LB/B rs59197486 - ZNF595 Q8IYB9 VAR_061958 p.Ala628Gly LB/B rs2006764 - ZNF596 Q8TC21 VAR_027014 p.Thr136Lys LB/B rs2074718 - ZNF596 Q8TC21 VAR_027015 p.Val476Gly LB/B rs2072174 - ZNF597 Q96LX8 VAR_033581 p.Thr30Ser LB/B rs2270493 - ZNF598 Q86UK7 VAR_034470 p.Ser453Tyr LB/B rs11556528 - ZNF598 Q86UK7 VAR_034471 p.Cys725Ser LB/B rs2286468 - ZNF598 Q86UK7 VAR_052147 p.Thr637Met LB/B rs2286469 - ZNF598 Q86UK7 VAR_059818 p.Ala608Thr LB/B rs11248905 - ZNF599 Q96NL3 VAR_065087 p.Leu178Phe LB/B rs146342141 - ZNF600 Q6ZNG1 VAR_057427 p.Met2Val LB/B rs7252818 - ZNF600 Q6ZNG1 VAR_059925 p.Thr13Arg LB/B rs7252128 - ZNF600 Q6ZNG1 VAR_059926 p.Cys209Arg LB/B rs1820128 - ZNF606 Q8WXB4 VAR_052872 p.Ser141Gly LB/B rs11673029 - ZNF607 Q96SK3 VAR_057974 p.Ser2Ala LB/B rs2909097 - ZNF607 Q96SK3 VAR_057975 p.Arg70His LB/B rs2385006 - ZNF607 Q96SK3 VAR_057976 p.Phe123Leu LB/B rs35735839 - ZNF607 Q96SK3 VAR_057977 p.Ser375Thr LB/B rs960689 - ZNF607 Q96SK3 VAR_057978 p.Ala653Pro LB/B rs17856468 - ZNF607 Q96SK3 VAR_058306 p.Arg433His LB/B rs2385006 - ZNF607 Q96SK3 VAR_058307 p.Lys531Arg LB/B rs958305 - ZNF608 Q9ULD9 VAR_031148 p.Thr721Asn LB/B rs6862252 - ZNF610 Q8N9Z0 VAR_033582 p.Arg216Pro LB/B rs321937 - ZNF610 Q8N9Z0 VAR_052873 p.Val104Met LB/B rs3815905 - ZNF610 Q8N9Z0 VAR_052874 p.Ala131Ser LB/B rs2241586 - ZNF610 Q8N9Z0 VAR_052875 p.Arg298Ile LB/B rs7343101 - ZNF611 Q8N823 VAR_052876 p.Pro252Leu LB/B rs4085566 - ZNF611 Q8N823 VAR_052877 p.Glu340Gly LB/B rs4087790 - ZNF611 Q8N823 VAR_059927 p.Pro252Thr LB/B rs4085565 - ZNF611 Q8N823 VAR_060429 p.Asn234Ile LB/B rs3884051 - ZNF611 Q8N823 VAR_060722 p.Pro252Ile LB/B rs34846371 - ZNF613 Q6PF04 VAR_028096 p.Asp84Asn LB/B rs17854933 - ZNF613 Q6PF04 VAR_028097 p.Lys93Glu LB/B rs8106409 - ZNF613 Q6PF04 VAR_028098 p.Ile135Arg LB/B rs16983243 - ZNF613 Q6PF04 VAR_057428 p.Ser163Phe LB/B rs33998555 - ZNF613 Q6PF04 VAR_057429 p.Asp611Val LB/B rs16983253 - ZNF614 Q8N883 VAR_052878 p.Thr68Ile LB/B rs9636139 - ZNF614 Q8N883 VAR_052879 p.His223Arg LB/B rs35098634 - ZNF614 Q8N883 VAR_052880 p.Val415Ile LB/B rs8104890 - ZNF614 Q8N883 VAR_061959 p.Gly160Glu LB/B rs45596739 - ZNF615 Q8N8J6 VAR_037285 p.Thr129Met LB/B rs10500311 - ZNF615 Q8N8J6 VAR_037286 p.Thr360Ile LB/B rs1978717 - ZNF615 Q8N8J6 VAR_037287 p.Arg727Lys LB/B rs16983353 - ZNF616 Q08AN1 VAR_031149 p.His451Arg LB/B rs3764537 - ZNF616 Q08AN1 VAR_061960 p.Pro50Ser LB/B rs35582075 - ZNF623 O75123 VAR_052881 p.Asp126Asn LB/B rs4874084 - ZNF624 Q9P2J8 VAR_035592 p.Cys558Ser US - A colorectal cancer sample ZNF624 Q9P2J8 VAR_058001 p.Lys135Asn LB/B rs8065506 - ZNF625 Q96I27 VAR_052882 p.Val41Met LB/B rs7258368 - ZNF626 Q68DY1 VAR_029837 p.Asn68His LB/B rs3209058 - ZNF626 Q68DY1 VAR_047338 p.Met65Thr LB/B rs8106117 - ZNF626 Q68DY1 VAR_047339 p.Gln89Glu LB/B rs8111015 - ZNF626 Q68DY1 VAR_047340 p.Ser90Asn LB/B rs8110802 - ZNF626 Q68DY1 VAR_047341 p.Cys464Tyr LB/B rs4809072 - ZNF626 Q68DY1 VAR_047342 p.Glu500Lys LB/B rs10408597 - ZNF629 Q9UEG4 VAR_052883 p.Pro707Ala LB/B rs8050758 - ZNF638 Q14966 VAR_023069 p.Ile110Val LB/B rs12612365 - ZNF638 Q14966 VAR_023070 p.Asn980Ser LB/B rs3732235 - ZNF638 Q14966 VAR_023071 p.Val1726Met LB/B rs1804020 - ZNF638 Q14966 VAR_023072 p.Ala1912Val LB/B rs11542286 - ZNF638 Q14966 VAR_052238 p.Ser1462Asn LB/B rs10427371 - ZNF641 Q96N77 VAR_032009 p.Ser231Cys LB/B rs17851618 - ZNF641 Q96N77 VAR_032010 p.Gln363Pro LB/B rs2732481 - ZNF644 Q9H582 VAR_035593 p.Glu53Gln US - A breast cancer sample ZNF644 Q9H582 VAR_052885 p.Met556Val LB/B rs17131242 - ZNF644 Q9H582 VAR_052886 p.Ala794Val LB/B rs10922938 - ZNF644 Q9H582 VAR_066389 p.Ile587Val LP/P rs146936371 Myopia 21, autosomal dominant (MYP21) [MIM:614167] ZNF644 Q9H582 VAR_066390 p.Ser672Gly LP/P rs387907109 Myopia 21, autosomal dominant (MYP21) [MIM:614167] ZNF644 Q9H582 VAR_066391 p.Arg680Gly LP/P - Myopia 21, autosomal dominant (MYP21) [MIM:614167] ZNF644 Q9H582 VAR_066392 p.Cys699Tyr LP/P - Myopia 21, autosomal dominant (MYP21) [MIM:614167] ZNF644 Q9H582 VAR_073995 p.Thr242Met US rs143932357 Myopia 21, autosomal dominant (MYP21) [MIM:614167] ZNF644 Q9H582 VAR_073996 p.Glu274Val US rs774685437 Myopia 21, autosomal dominant (MYP21) [MIM:614167] ZNF644 Q9H582 VAR_073997 p.Glu305Lys US rs149597385 Myopia 21, autosomal dominant (MYP21) [MIM:614167] ZNF644 Q9H582 VAR_073998 p.Lys369Met US - Myopia 21, autosomal dominant (MYP21) [MIM:614167] ZNF644 Q9H582 VAR_073999 p.Thr401Ala US - Myopia 21, autosomal dominant (MYP21) [MIM:614167] ZNF644 Q9H582 VAR_074000 p.Ala550Thr LB/B rs754440728 - ZNF644 Q9H582 VAR_074001 p.Arg683Thr US rs201546602 Myopia 21, autosomal dominant (MYP21) [MIM:614167] ZNF644 Q9H582 VAR_074002 p.His706Tyr LB/B rs908368905 - ZNF644 Q9H582 VAR_074003 p.Lys707Glu LB/B rs12117237 - ZNF644 Q9H582 VAR_074004 p.Asp851His US - Myopia 21, autosomal dominant (MYP21) [MIM:614167] ZNF644 Q9H582 VAR_074005 p.Thr956Ser US rs1050960158 Myopia 21, autosomal dominant (MYP21) [MIM:614167] ZNF644 Q9H582 VAR_074006 p.Tyr1089Cys US rs193167060 Myopia 21, autosomal dominant (MYP21) [MIM:614167] ZNF644 Q9H582 VAR_074007 p.Arg1100His LB/B rs140271599 - ZNF644 Q9H582 VAR_074008 p.Glu1278Gly US - Myopia 21, autosomal dominant (MYP21) [MIM:614167] ZNF646 O15015 VAR_035594 p.Asn1337Ile US - A breast cancer sample ZNF646 O15015 VAR_057430 p.Ala98Val LB/B rs28407985 - ZNF646 O15015 VAR_057431 p.Glu327Gly LB/B rs749670 - ZNF646 O15015 VAR_057432 p.Ile774Met LB/B rs17641067 - ZNF646 O15015 VAR_057433 p.Gly921Ala LB/B rs35713203 - ZNF646 O15015 VAR_057434 p.Arg1249Trp LB/B rs35376811 - ZNF646 O15015 VAR_057435 p.Arg1318Gln LB/B rs3751856 - ZNF646 O15015 VAR_057436 p.Gly1477Asp LB/B rs7196726 - ZNF646 O15015 VAR_057437 p.Thr1788Met LB/B rs34259949 - ZNF648 Q5T619 VAR_033585 p.Asn111Lys LB/B rs12568050 - ZNF648 Q5T619 VAR_052887 p.Glu42Lys LB/B rs12564283 - ZNF649 Q9BS31 VAR_027668 p.Gly352Asp LB/B rs6509593 - ZNF649 Q9BS31 VAR_027669 p.Ala469Thr LB/B rs1433083 - ZNF653 Q96CK0 VAR_028076 p.Lys54Arg LB/B rs17851437 - ZNF653 Q96CK0 VAR_057438 p.Ala329Thr LB/B rs35556595 - ZNF655 Q8N720 VAR_028165 p.Glu52Asp LB/B rs17853754 - ZNF658 Q5TYW1 VAR_052888 p.Ser68Tyr LB/B rs2065444 - ZNF662 Q6ZS27 VAR_061961 p.Asn176Ser LB/B rs60980399 - ZNF665 Q9H7R5 VAR_039895 p.Val84Ala LB/B rs12460170 - ZNF665 Q9H7R5 VAR_039896 p.His157Arg LB/B rs4801959 - ZNF665 Q9H7R5 VAR_039897 p.Val647Ile LB/B rs4801958 - ZNF667 Q5HYK9 VAR_027716 p.Lys260Arg LB/B rs3760849 - ZNF667 Q5HYK9 VAR_027717 p.Thr540Ala LB/B rs12610019 - ZNF667 Q5HYK9 VAR_047330 p.Pro134Leu LB/B rs35914474 - ZNF668 Q96K58 VAR_027689 p.Leu25Val LB/B rs2032917 - ZNF668 Q96K58 VAR_027690 p.Gly304Glu LB/B rs17851949 - ZNF668 Q96K58 VAR_027691 p.Ala447Val LB/B rs8046978 - ZNF668 Q96K58 VAR_035595 p.Ala66Thr US rs1429688220 A breast cancer sample ZNF668 Q96K58 VAR_035596 p.Gly286Ser US rs553159663 A breast cancer sample ZNF668 Q96K58 VAR_035597 p.Thr331Arg US - A breast cancer sample ZNF668 Q96K58 VAR_035598 p.Arg556Gln US rs148738674 A breast cancer sample ZNF669 Q96BR6 VAR_057439 p.Glu76Asp LB/B rs4925692 - ZNF669 Q96BR6 VAR_059928 p.Gly460Ser LB/B rs7533935 - ZNF671 Q8TAW3 VAR_026151 p.Ala149Val LB/B rs3746207 - ZNF671 Q8TAW3 VAR_055240 p.Pro237Ser LB/B rs34419645 - ZNF674 Q2M3X9 VAR_026152 p.Thr343Met LB/B rs61730637 - ZNF674 Q2M3X9 VAR_026153 p.Pro412Leu US rs1422964788 - ZNF674 Q2M3X9 VAR_046997 p.Leu182Phe LB/B rs1737367 - ZNF675 Q8TD23 VAR_057440 p.Val197Ala LB/B rs11671053 - ZNF675 Q8TD23 VAR_060430 p.Leu124Val LB/B rs4380159 - ZNF675 Q8TD23 VAR_060431 p.Ala410Thr LB/B rs73029758 - ZNF676 Q8N7Q3 VAR_047437 p.Gly27Glu LB/B rs8104929 - ZNF676 Q8N7Q3 VAR_047438 p.Glu96Lys LB/B rs12986319 - ZNF676 Q8N7Q3 VAR_047439 p.Ser292Trp LB/B rs11671538 - ZNF677 Q86XU0 VAR_052889 p.Asp56Asn LB/B rs11881131 - ZNF677 Q86XU0 VAR_052890 p.Gly254Glu LB/B rs10425706 - ZNF678 Q5SXM1 VAR_026154 p.Lys144Glu LB/B rs17854209 - ZNF678 Q5SXM1 VAR_057441 p.Thr197Ile LB/B rs12118505 - ZNF678 Q5SXM1 VAR_061962 p.Pro152Thr LB/B rs61283390 - ZNF679 Q8IYX0 VAR_033586 p.Glu69Gly LB/B rs12154540 - ZNF679 Q8IYX0 VAR_033587 p.His120Arg LB/B rs17139320 - ZNF679 Q8IYX0 VAR_033588 p.Tyr212His LB/B rs1830035 - ZNF679 Q8IYX0 VAR_033589 p.Cys223Ser LB/B rs1830036 - ZNF680 Q8NEM1 VAR_027892 p.Ser132Phe LB/B rs11768951 - ZNF680 Q8NEM1 VAR_027893 p.Asp330Gly LB/B rs17856885 - ZNF680 Q8NEM1 VAR_027894 p.Asn525Asp LB/B rs17852813 - ZNF681 Q96N22 VAR_035167 p.Asp84His LB/B rs7248674 - ZNF681 Q96N22 VAR_035168 p.Leu295Ser LB/B rs1818989 - ZNF681 Q96N22 VAR_063679 p.Arg367Lys LB/B rs1818990 - ZNF681 Q96N22 VAR_063680 p.His548Gln LB/B rs1852433 - ZNF682 O95780 VAR_052891 p.Val65Met LB/B rs7255165 - ZNF682 O95780 VAR_052892 p.Thr209Ile LB/B rs2075090 - ZNF682 O95780 VAR_052893 p.Val450Ile LB/B rs17679334 - ZNF683 Q8IZ20 VAR_026155 p.His204Asn LB/B rs17852672 - ZNF683 Q8IZ20 VAR_057442 p.Gly22Val LB/B rs35040247 - ZNF683 Q8IZ20 VAR_057443 p.Asp48Gly LB/B rs10794532 - ZNF683 Q8IZ20 VAR_057444 p.His53Arg LB/B rs10794531 - ZNF683 Q8IZ20 VAR_057445 p.Arg288Leu LB/B rs11247933 - ZNF687 Q8N1G0 VAR_052894 p.Gly259Glu LB/B rs3748545 - ZNF687 Q8N1G0 VAR_052895 p.Arg344Thr LB/B rs12045766 - ZNF687 Q8N1G0 VAR_076534 p.Ser242Ile US rs869025582 Paget disease of bone 6 (PDB6) [MIM:616833] ZNF687 Q8N1G0 VAR_076535 p.Pro937Arg LP/P rs148402804 Paget disease of bone 6 (PDB6) [MIM:616833] ZNF688 P0C7X2 VAR_052896 p.Ser131Ile LB/B rs33997546 - ZNF692 Q9BU19 VAR_033590 p.Pro230Arg LB/B rs13313088 - ZNF695 Q8IW36 VAR_057446 p.Arg84Lys LB/B rs2642973 - ZNF695 Q8IW36 VAR_057447 p.Val87Ala LB/B rs2642992 - ZNF695 Q8IW36 VAR_061963 p.Met110Ile LB/B rs55762230 - ZNF697 Q5TEC3 VAR_078436 p.Pro158Thr LB/B - - ZNF7 P17097 VAR_024191 p.Gly188Arg LB/B rs1735169 - ZNF7 P17097 VAR_052744 p.Ser347Leu LB/B rs2228180 - ZNF7 P17097 VAR_052745 p.Leu596Phe LB/B rs1735170 - ZNF700 Q9H0M5 VAR_033591 p.Leu321Val LB/B rs17001730 - ZNF700 Q9H0M5 VAR_052897 p.Glu269Gly LB/B rs12327617 - ZNF701 Q9NV72 VAR_033592 p.Leu70Pro LB/B rs162832 - ZNF701 Q9NV72 VAR_033593 p.Thr182Ile LB/B rs366793 - ZNF701 Q9NV72 VAR_033594 p.Arg521Cys LB/B rs444172 - ZNF701 Q9NV72 VAR_052898 p.Thr337Lys LB/B rs373554 - ZNF701 Q9NV72 VAR_060432 p.Leu185Val LB/B rs12462687 - ZNF701 Q9NV72 VAR_060433 p.Arg495His LB/B rs3745102 - ZNF701 Q9NV72 VAR_061964 p.Asp306Glu LB/B rs427127 - ZNF704 Q6ZNC4 VAR_032506 p.Ala35Ser LB/B rs3907424 - ZNF705A Q6ZN79 VAR_033595 p.Lys142Gln LB/B rs10743253 - ZNF705A Q6ZN79 VAR_059929 p.Thr126Ala LB/B rs10743251 - ZNF705A Q6ZN79 VAR_059930 p.Arg134Cys LB/B rs10743252 - ZNF705A Q6ZN79 VAR_059931 p.Arg186His LB/B rs11043758 - ZNF707 Q96C28 VAR_033596 p.Pro96His LB/B rs6987308 - ZNF708 P17019 VAR_054795 p.Ala71Val LB/B rs547516 - ZNF708 P17019 VAR_054796 p.Lys113Glu LB/B rs1781873 - ZNF708 P17019 VAR_054797 p.Lys122Thr LB/B rs1781872 - ZNF708 P17019 VAR_054798 p.Arg130Gln LB/B rs504280 - ZNF71 Q9NQZ8 VAR_024196 p.Val105Ile LB/B rs2072501 - ZNF71 Q9NQZ8 VAR_052762 p.Arg27Gly LB/B rs10405299 - ZNF71 Q9NQZ8 VAR_052763 p.Pro121Leu LB/B rs35392779 - ZNF711 Q9Y462 VAR_062990 p.Gly139Glu US rs367654949 Intellectual developmental disorder, X-linked 97 (XLID97) [MIM:300803] ZNF711 Q9Y462 VAR_062991 p.Thr221Ala LB/B rs148609081 - ZNF711 Q9Y462 VAR_062992 p.His274Arg US rs777239465 Intellectual developmental disorder, X-linked 97 (XLID97) [MIM:300803] ZNF711 Q9Y462 VAR_062993 p.Met524Thr LB/B rs368788919 - ZNF711 Q9Y462 VAR_062994 p.Asn601Ser US rs760346140 Intellectual developmental disorder, X-linked 97 (XLID97) [MIM:300803] ZNF711 Q9Y462 VAR_062995 p.Glu622Asp US - Intellectual developmental disorder, X-linked 97 (XLID97) [MIM:300803] ZNF711 Q9Y462 VAR_078572 p.Ile244Thr LP/P rs1060505033 Intellectual developmental disorder, X-linked 97 (XLID97) [MIM:300803] ZNF714 Q96N38 VAR_042936 p.Lys331Arg LB/B rs2884554 - ZNF714 Q96N38 VAR_042937 p.Ile473Val LB/B rs10427116 - ZNF714 Q96N38 VAR_057448 p.Ile472Val LB/B rs10427116 - ZNF718 Q3SXZ3 VAR_059933 p.Lys140Asn LB/B rs9684215 - ZNF718 Q3SXZ3 VAR_059934 p.Lys140Arg LB/B rs9684214 - ZNF718 Q3SXZ3 VAR_059935 p.Ser297Tyr LB/B rs7677201 - ZNF718 Q3SXZ3 VAR_059936 p.His413Arg LB/B rs7440274 - ZNF730 Q6ZMV8 VAR_057449 p.Gly365Glu LB/B rs7247102 - ZNF737 O75373 VAR_067460 p.Cys78Ser LB/B rs7254995 - ZNF737 O75373 VAR_067461 p.Val125Leu LB/B rs9653154 - ZNF737 O75373 VAR_067462 p.Arg492Cys LB/B rs10410201 - ZNF737 O75373 VAR_067463 p.Lys516Glu LB/B rs10411329 - ZNF74 Q16587 VAR_012993 p.Glu117Lys LB/B rs3747076 - ZNF749 O43361 VAR_030278 p.Gln243Arg LB/B rs12986235 - ZNF749 O43361 VAR_030279 p.Ala405Thr LB/B rs2240038 - ZNF749 O43361 VAR_030280 p.Ile771Arg LB/B rs7246856 - ZNF750 Q32MQ0 VAR_027062 p.Met235Val LB/B rs8074277 - ZNF750 Q32MQ0 VAR_051502 p.Pro288Leu LB/B rs35653278 - ZNF750 Q32MQ0 VAR_051503 p.Gln392Arg LB/B rs34687659 - ZNF75A Q96N20 VAR_033545 p.Val84Ala LB/B rs17611866 - ZNF75A Q96N20 VAR_035570 p.Gln228Glu US - A breast cancer sample ZNF76 P36508 VAR_033546 p.Thr48Met LB/B rs2228265 - ZNF76 P36508 VAR_033547 p.Arg272Cys LB/B rs33959228 - ZNF76 P36508 VAR_033548 p.Arg403Gln LB/B rs35582935 - ZNF761 Q86XN6 VAR_035335 p.Ile122Ser LB/B rs2708743 - ZNF761 Q86XN6 VAR_035336 p.Val168Ile LB/B rs1984432 - ZNF761 Q86XN6 VAR_035337 p.Gly528Ser LB/B rs2708742 - ZNF761 Q86XN6 VAR_035338 p.Glu603Gln LB/B rs2617726 - ZNF761 Q86XN6 VAR_080210 p.Ile678Val LB/B rs139713552 - ZNF763 Q0D2J5 VAR_042692 p.Tyr327His LB/B rs7254529 - ZNF763 Q0D2J5 VAR_057450 p.Tyr324His LB/B rs7254529 - ZNF764 Q96H86 VAR_047845 p.Ala332Val LB/B rs17850402 - ZNF765 Q7L2R6 VAR_045598 p.Ser389Gly LB/B rs10425136 - ZNF766 Q5HY98 VAR_052899 p.Cys95Tyr LB/B rs12462608 - ZNF767P Q75MW2 VAR_057034 p.His31Arg LB/B rs1723718 - ZNF767P Q75MW2 VAR_057035 p.Gln38Arg LB/B rs1723719 - ZNF767P Q75MW2 VAR_057036 p.Ala131Thr LB/B rs1808231 - ZNF767P Q75MW2 VAR_057037 p.Thr134Ala LB/B rs354055 - ZNF768 Q9H5H4 VAR_035024 p.Glu181Asp LB/B rs10871453 - ZNF768 Q9H5H4 VAR_052900 p.Ala488Ser LB/B rs3751848 - ZNF77 Q15935 VAR_033549 p.Leu20Trp LB/B rs34603238 - ZNF77 Q15935 VAR_033550 p.Pro179Ser LB/B rs34705382 - ZNF77 Q15935 VAR_033551 p.Gly460Arg LB/B rs35411355 - ZNF77 Q15935 VAR_052764 p.Cys3Ser LB/B rs12610412 - ZNF77 Q15935 VAR_059895 p.Ile5Val LB/B rs12609268 - ZNF771 Q7L3S4 VAR_031150 p.Asp207Asn LB/B rs17852362 - ZNF772 Q68DY9 VAR_029604 p.Cys182Trp LB/B rs2074060 - ZNF772 Q68DY9 VAR_029605 p.Met218Leu LB/B rs2074059 - ZNF774 Q6NX45 VAR_029596 p.Pro65Leu LB/B rs16944267 - ZNF774 Q6NX45 VAR_029597 p.Asn83Ser LB/B rs2589957 - ZNF774 Q6NX45 VAR_029598 p.Val147Ile LB/B rs11854320 - ZNF775 Q96BV0 VAR_059937 p.Thr428Ala LB/B rs13225910 - ZNF777 Q9ULD5 VAR_057451 p.Arg70Trp LB/B rs3735318 - ZNF777 Q9ULD5 VAR_057452 p.Val115Ala LB/B rs3735319 - ZNF777 Q9ULD5 VAR_061965 p.Ala512Thr LB/B rs17852167 - ZNF778 Q96MU6 VAR_061966 p.Asn683Asp LB/B rs55974122 - ZNF782 Q6ZMW2 VAR_029578 p.Arg130Pro LB/B rs7870376 - ZNF782 Q6ZMW2 VAR_029579 p.Arg165His LB/B rs4645656 - ZNF782 Q6ZMW2 VAR_052901 p.Asn246Ser LB/B rs34763627 - ZNF782 Q6ZMW2 VAR_052902 p.Thr289Ala LB/B rs35403084 - ZNF783 Q6ZMS7 VAR_069466 p.Arg63Cys LB/B rs764239191 - ZNF785 A8K8V0 VAR_076389 p.Asp316Gly LB/B rs1391888354 - ZNF785 A8K8V0 VAR_076390 p.Ser337Arg LB/B rs201574418 - ZNF787 Q6DD87 VAR_032336 p.Gly379Ala LB/B rs4077285 - ZNF789 Q5FWF6 VAR_052903 p.Thr77Ala LB/B rs6962772 - ZNF79 Q15937 VAR_024841 p.Thr31Ile LB/B rs13292096 - ZNF79 Q15937 VAR_024842 p.Arg51Gly LB/B rs4504745 - ZNF79 Q15937 VAR_059896 p.Ser401Asn LB/B rs3210752 - ZNF790 Q6PG37 VAR_057453 p.Thr486Ser LB/B rs4369791 - ZNF790 Q6PG37 VAR_060434 p.Gln301Arg LB/B rs3745775 - ZNF792 Q3KQV3 VAR_033106 p.Arg177Gln LB/B rs2651079 - ZNF792 Q3KQV3 VAR_047354 p.Arg525Trp LB/B rs3746244 - ZNF793 Q6ZN11 VAR_033107 p.Ile68Met LB/B rs12977460 - ZNF793 Q6ZN11 VAR_061967 p.Ile133Val LB/B rs45593644 - ZNF799 Q96GE5 VAR_029846 p.Gly44Val LB/B rs1134387 - ZNF799 Q96GE5 VAR_029847 p.Cys593Arg LB/B rs8112445 - ZNF80 P51504 VAR_019972 p.Asp253Ala LB/B rs3732782 - ZNF80 P51504 VAR_046561 p.Arg201His LB/B rs6438191 - ZNF800 Q2TB10 VAR_052904 p.Leu102Val LB/B rs17865569 - ZNF804A Q7Z570 VAR_025943 p.Gln261Leu LB/B rs12476147 - ZNF804A Q7Z570 VAR_025944 p.Glu542Lys LB/B rs4667001 - ZNF804A Q7Z570 VAR_025945 p.Thr707Lys LB/B rs1366842 - ZNF804A Q7Z570 VAR_025946 p.His747Arg LB/B rs12477430 - ZNF804A Q7Z570 VAR_025947 p.Leu1081Val LB/B rs3731834 - ZNF804A Q7Z570 VAR_035599 p.Asn324Ser US - A colorectal cancer sample ZNF804A Q7Z570 VAR_054133 p.Asp479Gly LB/B rs35676856 - ZNF804A Q7Z570 VAR_054134 p.Lys600Arg LB/B rs35925696 - ZNF804A Q7Z570 VAR_054135 p.Gly1152Arg LB/B rs12105159 - ZNF804B A4D1E1 VAR_054666 p.Cys248Tyr LB/B rs1916830 - ZNF804B A4D1E1 VAR_054667 p.Glu909Lys LB/B rs10487075 - ZNF804B A4D1E1 VAR_054668 p.Met1105Val LB/B rs6963781 - ZNF804B A4D1E1 VAR_054669 p.Val1195Ile LB/B rs801841 - ZNF804B A4D1E1 VAR_059938 p.Phe634Ile LB/B rs801840 - ZNF804B A4D1E1 VAR_061968 p.Asn914His LB/B rs59859857 - ZNF804B A4D1E1 VAR_061969 p.Thr915Ile LB/B rs56948780 - ZNF805 Q5CZA5 VAR_057454 p.Gly68Glu LB/B rs2014572 - ZNF808 Q8N4W9 VAR_045823 p.Lys134Asn LB/B rs329964 - ZNF808 Q8N4W9 VAR_045824 p.Asp262Asn LB/B rs329965 - ZNF81 P51508 VAR_019939 p.Ala3Val LB/B rs183846665 - ZNF81 P51508 VAR_019940 p.Asn157Ser LB/B rs41312157 - ZNF81 P51508 VAR_019941 p.Ser179Asn US rs28933691 - ZNF81 P51508 VAR_019942 p.Ser185Leu LB/B rs186251256 - ZNF81 P51508 VAR_019943 p.Ile499Val LB/B rs182239885 - ZNF81 P51508 VAR_038806 p.Gly117Val LB/B rs17147793 - ZNF81 P51508 VAR_052765 p.Ala213Glu LB/B rs537825 - ZNF813 Q6ZN06 VAR_033167 p.Arg231Lys LB/B rs10421308 - ZNF813 Q6ZN06 VAR_033168 p.Tyr439Phe LB/B rs10422163 - ZNF813 Q6ZN06 VAR_052905 p.Ala62Thr LB/B rs2617667 - ZNF813 Q6ZN06 VAR_052906 p.Asp93Val LB/B rs12609217 - ZNF813 Q6ZN06 VAR_052907 p.Ile168Phe LB/B rs12460628 - ZNF813 Q6ZN06 VAR_052908 p.Tyr192Cys LB/B rs3859494 - ZNF816 Q0VGE8 VAR_033165 p.Ile80Asn LB/B rs12459008 - ZNF816 Q0VGE8 VAR_033166 p.Ser162Leu LB/B rs11084210 - ZNF818P Q6ZRF7 VAR_033182 p.Glu14Lys LB/B rs10853858 - ZNF823 P16415 VAR_052909 p.Arg566His LB/B rs3745663 - ZNF826P Q6ZT77 VAR_059940 p.Cys148Tyr LB/B rs7247776 - ZNF83 P51522 VAR_058206 p.Thr70Ile LB/B rs3786490 - ZNF83 P51522 VAR_058207 p.Ser96Asn LB/B rs1056185 - ZNF83 P51522 VAR_058208 p.Thr119Met LB/B rs329940 - ZNF83 P51522 VAR_058209 p.His392Arg LB/B rs11545619 - ZNF830 Q96NB3 VAR_024059 p.His99Gln LB/B rs931196 - ZNF830 Q96NB3 VAR_024060 p.Ser154Thr LB/B rs3744355 - ZNF830 Q96NB3 VAR_030940 p.Ile16Val LB/B rs8073825 - ZNF830 Q96NB3 VAR_030941 p.Ser93Pro LB/B rs8078059 - ZNF830 Q96NB3 VAR_030942 p.Phe135Leu LB/B rs8078217 - ZNF831 Q5JPB2 VAR_026472 p.Gly845Arg LB/B rs181984 - ZNF831 Q5JPB2 VAR_026473 p.Ser1513Pro LB/B rs259956 - ZNF831 Q5JPB2 VAR_069367 p.Arg1615His LB/B rs201549554 - ZNF835 Q9Y2P0 VAR_061977 p.Glu29Lys LB/B rs12462469 - ZNF835 Q9Y2P0 VAR_061978 p.Glu88Ala LB/B rs12460400 - ZNF836 Q6ZNA1 VAR_039001 p.Met219Ile LB/B rs1366245 - ZNF836 Q6ZNA1 VAR_039002 p.Asn809Ser LB/B rs8113504 - ZNF837 Q96EG3 VAR_039373 p.Gln153Arg LB/B rs7256940 - ZNF837 Q96EG3 VAR_061979 p.Ala242Thr LB/B rs7255596 - ZNF839 A8K0R7 VAR_042468 p.Pro531Ser LB/B rs9464 - ZNF839 A8K0R7 VAR_042469 p.Val693Met LB/B rs28646161 - ZNF839 A8K0R7 VAR_042470 p.Phe731Leu LB/B rs1053019 - ZNF839 A8K0R7 VAR_057456 p.Ala314Thr LB/B rs1543540 - ZNF840P A6NDX5 VAR_048027 p.Tyr181Cys LB/B rs3752261 - ZNF844 Q08AG5 VAR_059941 p.Val113Met LB/B rs12611158 - ZNF844 Q08AG5 VAR_059942 p.Arg146His LB/B rs10422576 - ZNF844 Q08AG5 VAR_059943 p.Lys226Glu LB/B rs7259684 - ZNF844 Q08AG5 VAR_059944 p.Thr276Ala LB/B rs7259845 - ZNF844 Q08AG5 VAR_059945 p.Ala308Pro LB/B rs6511763 - ZNF844 Q08AG5 VAR_059946 p.Val329Ala LB/B rs8102258 - ZNF844 Q08AG5 VAR_059947 p.Met584Leu LB/B rs1438694 - ZNF844 Q08AG5 VAR_059948 p.Ile642Met LB/B rs10426017 - ZNF844 Q08AG5 VAR_061980 p.Val658Ile LB/B rs55703333 - ZNF846 Q147U1 VAR_052911 p.Cys450Tyr LB/B rs10414485 - ZNF846 Q147U1 VAR_052912 p.Tyr492Cys LB/B rs10420364 - ZNF85 Q03923 VAR_033552 p.Lys60Thr LB/B rs7254311 - ZNF85 Q03923 VAR_033553 p.Gly184Arg LB/B rs11665978 - ZNF85 Q03923 VAR_033554 p.Phe270Ser LB/B rs11670246 - ZNF85 Q03923 VAR_047515 p.Thr266Ala LB/B rs1063156 - ZNF85 Q03923 VAR_061932 p.Gln84Arg LB/B rs56321708 - ZNF85 Q03923 VAR_061933 p.Arg115Ile LB/B rs56231962 - ZNF85 Q03923 VAR_061934 p.Thr177Arg LB/B rs56393308 - ZNF853 P0CG23 VAR_063279 p.Gly8Arg LB/B rs2243563 - ZNF853 P0CG23 VAR_063280 p.Gln30Arg LB/B rs1806552 - ZNF853 P0CG23 VAR_063281 p.Gln212Glu LB/B rs11971880 - ZNF862 O60290 VAR_039248 p.Ile178Thr LB/B rs3735328 - ZNF875 P10072 VAR_047404 p.Arg448His LB/B rs2921563 - ZNF875 P10072 VAR_047405 p.Ser513Ile LB/B rs3745765 - ZNF875 P10072 VAR_047406 p.Thr628Ile LB/B rs3745764 - ZNF91 Q05481 VAR_057393 p.Tyr112His LB/B rs296091 - ZNF91 Q05481 VAR_057394 p.Thr896Ala LB/B rs296093 - ZNF91 Q05481 VAR_059897 p.Phe455Ile LB/B rs440638 - ZNF91 Q05481 VAR_059898 p.Leu1164Pro LB/B rs428549 - ZNF91 Q05481 VAR_059899 p.Leu1164Val LB/B rs385750 - ZNF91 Q05481 VAR_060417 p.Thr336Ala LB/B rs449447 - ZNF91 Q05481 VAR_060418 p.Ala386Thr LB/B rs403356 - ZNF91 Q05481 VAR_060419 p.Glu521Lys LB/B rs12976753 - ZNF91 Q05481 VAR_060420 p.Arg1011Ile LB/B rs1821844 - ZNF91 Q05481 VAR_060421 p.Arg1033Gln LB/B rs1821846 - ZNF92 Q03936 VAR_024843 p.Gln492Arg LB/B rs17853615 - ZNF92 Q03936 VAR_052766 p.Ala122Val LB/B rs10265083 - ZNF92 Q03936 VAR_052767 p.Arg527His LB/B rs10239197 - ZNF93 P35789 VAR_052768 p.Asp93Tyr LB/B rs12151060 - ZNF99 A8MXY4 VAR_044501 p.Ala129Gly LB/B rs7255780 - ZNF99 A8MXY4 VAR_061935 p.Trp7Arg LB/B rs34726149 - ZNFX1 Q9P2E3 VAR_014078 p.Leu864Val LB/B rs2664578 - ZNFX1 Q9P2E3 VAR_014079 p.Thr910Ala LB/B rs2273148 - ZNFX1 Q9P2E3 VAR_014080 p.Gln924His LB/B rs238221 - ZNFX1 Q9P2E3 VAR_014081 p.Thr1351Ile LB/B rs238209 - ZNFX1 Q9P2E3 VAR_024487 p.Met1259Ile LB/B rs6512577 - ZNFX1 Q9P2E3 VAR_051504 p.Gly1297Ser LB/B rs36068952 - ZNFX1 Q9P2E3 VAR_085314 p.Arg377Gln US - Immunodeficiency 91 and hyperinflammation (IMD91) [MIM:619644] ZNFX1 Q9P2E3 VAR_085316 p.Leu1051Pro US - Immunodeficiency 91 and hyperinflammation (IMD91) [MIM:619644] ZNFX1 Q9P2E3 VAR_085317 p.Ile1154Thr US - Immunodeficiency 91 and hyperinflammation (IMD91) [MIM:619644] ZNFX1 Q9P2E3 VAR_085318 p.Cys1264Ser US - Immunodeficiency 91 and hyperinflammation (IMD91) [MIM:619644] ZNFX1 Q9P2E3 VAR_085319 p.Cys1292Ser US - Immunodeficiency 91 and hyperinflammation (IMD91) [MIM:619644] ZNG1A Q9BRT8 VAR_026979 p.Ala8Val LB/B rs16925054 - ZNG1E Q5RIA9 VAR_067710 p.Thr147Ala LB/B rs1411096827 - ZNG1E Q5RIA9 VAR_067711 p.Glu288Asp LB/B rs1168844980 - ZNHIT1 O43257 VAR_035719 p.Arg134Trp US rs369664812 A colorectal cancer sample ZNHIT2 Q9UHR6 VAR_035720 p.Ala59Pro US rs1185334988 A breast cancer sample ZNHIT2 Q9UHR6 VAR_053757 p.Glu155Lys LB/B rs11556920 - ZNHIT2 Q9UHR6 VAR_053758 p.Ala176Val LB/B rs35983251 - ZNHIT3 Q15649 VAR_079193 p.Ser31Leu LP/P rs148890852 PEHO syndrome (PEHO) [MIM:260565] ZNHIT6 Q9NWK9 VAR_031096 p.Gly9Arg LB/B rs17399721 - ZNHIT6 Q9NWK9 VAR_035721 p.Leu455His US - A colorectal cancer sample ZNRD2 O60232 VAR_051383 p.Thr21Met LB/B rs35971725 - ZNRF4 Q8WWF5 VAR_030611 p.Pro37Ser LB/B rs2240743 - ZNRF4 Q8WWF5 VAR_030612 p.Arg78Gln LB/B rs2240744 - ZNRF4 Q8WWF5 VAR_030613 p.Val100Ile LB/B rs2240745 - ZNRF4 Q8WWF5 VAR_030614 p.Ala157Ser LB/B rs8103406 - ZNRF4 Q8WWF5 VAR_030615 p.Val159Ala LB/B rs8107825 - ZNRF4 Q8WWF5 VAR_030616 p.Arg163Cys LB/B rs8104246 - ZNRF4 Q8WWF5 VAR_030617 p.Arg163His LB/B rs17304380 - ZNRF4 Q8WWF5 VAR_030618 p.Asp192Asn LB/B rs16992985 - ZP1 P60852 VAR_052996 p.Thr158Ile LB/B rs489172 - ZP2 Q05996 VAR_024705 p.Gly36Val LB/B rs2075520 - ZP3 P21754 VAR_058011 p.Gly31Arg LB/B rs2286428 - ZP3 P21754 VAR_058012 p.Ser315Pro LB/B rs2906999 - ZP3 P21754 VAR_058013 p.Met340Val LB/B rs2906997 - ZP3 P21754 VAR_079712 p.Ala134Thr LP/P rs1554625334 Oocyte/zygote/embryo maturation arrest 3 (OZEMA3) [MIM:617712] ZP4 Q12836 VAR_052997 p.Ala114Val LB/B rs34370253 - ZP4 Q12836 VAR_052998 p.Pro295Ser LB/B rs34811980 - ZPBP Q9BS86 VAR_076826 p.Arg17Pro LB/B rs202231065 - ZPBP Q9BS86 VAR_076827 p.Arg25Pro LB/B rs61696422 - ZPBP Q9BS86 VAR_076828 p.Ser184Gly US rs1299521157 Spermatogenic failure 66 (SPGF66) [MIM:619799] ZPBP Q9BS86 VAR_076829 p.His217Leu US - Spermatogenic failure 66 (SPGF66) [MIM:619799] ZPBP Q9BS86 VAR_076830 p.Gly225Ser US rs1468321681 Spermatogenic failure 66 (SPGF66) [MIM:619799] ZPBP Q9BS86 VAR_076831 p.Asn252Ser US - Spermatogenic failure 66 (SPGF66) [MIM:619799] ZPBP Q9BS86 VAR_076832 p.Ile287Thr US - Spermatogenic failure 66 (SPGF66) [MIM:619799] ZPBP2 Q6X784 VAR_053747 p.Pro68Ala LB/B rs35591738 - ZPBP2 Q6X784 VAR_053748 p.Ala118Thr LB/B rs35829084 - ZPBP2 Q6X784 VAR_053749 p.Ser173Ile LB/B rs11557467 - ZPBP2 Q6X784 VAR_053750 p.Gln335Glu LB/B rs35302660 - ZPBP2 Q6X784 VAR_067003 p.Thr69Ile LB/B rs189660050 - ZPLD1 Q8TCW7 VAR_035400 p.Ile12Phe LB/B rs6784362 - ZPLD1 Q8TCW7 VAR_035401 p.Asn29Ser LB/B rs6784389 - ZPLD1 Q8TCW7 VAR_035402 p.Thr197Ala LB/B rs12054046 - ZPR1 O75312 VAR_052999 p.Ala264Val LB/B rs35120633 - ZPR1 O75312 VAR_085794 p.Ile196Thr US rs368697578 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) [MIM:619321] ZRANB2 O95218 VAR_030783 p.Arg207Gly LB/B rs11583800 - ZRANB3 Q5FWF4 VAR_030671 p.Glu541Lys LB/B rs935615 - ZRANB3 Q5FWF4 VAR_030672 p.Arg546Gln LB/B rs7608121 - ZRANB3 Q5FWF4 VAR_061237 p.Glu637Val LB/B rs59900519 - ZSCAN16 Q9H4T2 VAR_035604 p.Arg137Gln US rs750071607 A colorectal cancer sample ZSCAN18 Q8TBC5 VAR_026871 p.Gly379Glu LB/B rs2258557 - ZSCAN2 Q7Z7L9 VAR_065095 p.Ser191Thr LB/B rs2044502 - ZSCAN20 P17040 VAR_054799 p.Asp248Asn LB/B rs34446695 - ZSCAN20 P17040 VAR_054800 p.Tyr432Asp LB/B rs4403594 - ZSCAN25 Q6NSZ9 VAR_036931 p.Pro325Ala LB/B rs10239632 - ZSCAN26 Q16670 VAR_035405 p.Arg220Ser LB/B rs17851075 - ZSCAN26 Q16670 VAR_059900 p.Tyr59Cys LB/B rs16893892 - ZSCAN26 Q16670 VAR_059901 p.Arg73Gln LB/B rs11965538 - ZSCAN26 Q16670 VAR_059902 p.Glu83Lys LB/B rs11965542 - ZSCAN29 Q8IWY8 VAR_057459 p.Gly199Ser LB/B rs3917221 - ZSCAN29 Q8IWY8 VAR_059949 p.Arg104Gly LB/B rs3809482 - ZSCAN30 Q86W11 VAR_059914 p.Gln238Pro LB/B rs2249769 - ZSCAN31 Q96LW9 VAR_019981 p.Thr50Ser LB/B rs853678 - ZSCAN31 Q96LW9 VAR_024209 p.Lys205Arg LB/B rs853684 - ZSCAN31 Q96LW9 VAR_052809 p.Ala128Pro LB/B rs6922302 - ZSCAN31 Q96LW9 VAR_052810 p.Arg222Gln LB/B rs34223404 - ZSCAN31 Q96LW9 VAR_059911 p.Gly365Glu LB/B rs2394051 - ZSCAN32 Q9NX65 VAR_024215 p.Tyr332His LB/B rs27230 - ZSCAN32 Q9NX65 VAR_052826 p.Ala266Val LB/B rs17136369 - ZSCAN4 Q8NAM6 VAR_052926 p.Glu387Lys LB/B rs11668570 - ZSCAN5A Q9BUG6 VAR_035603 p.Glu146Gln US rs145011101 A colorectal cancer sample ZSCAN5A Q9BUG6 VAR_042964 p.Gly337Val LB/B rs34187696 - ZSCAN5B A6NJL1 VAR_042965 p.Pro187Ser LB/B rs527025 - ZSCAN5B A6NJL1 VAR_042966 p.Val208Ile LB/B rs4801296 - ZSCAN5B A6NJL1 VAR_042967 p.Ser236Thr LB/B rs10425951 - ZSCAN5B A6NJL1 VAR_042968 p.Ser304Thr LB/B rs892183 - ZSCAN5B A6NJL1 VAR_042969 p.Met412Leu LB/B rs16987048 - ZSCAN5C A6NGD5 VAR_042970 p.Gln181Arg LB/B rs4801690 - ZSCAN5C A6NGD5 VAR_042971 p.Glu197Asp LB/B rs12979551 - ZSCAN5C A6NGD5 VAR_052927 p.Gln24Arg LB/B rs10419548 - ZSCAN5C A6NGD5 VAR_052928 p.Gln259Lys LB/B rs1865102 - ZSCAN9 O15535 VAR_076868 p.His254Arg LB/B rs148219046 - ZSWIM1 Q9BR11 VAR_020445 p.Arg101Gln LB/B rs3746500 - ZSWIM3 Q96MP5 VAR_053769 p.Val259Ala LB/B rs2903808 - ZSWIM3 Q96MP5 VAR_062161 p.Arg291Trp LB/B rs35928298 - ZSWIM5 Q9P217 VAR_053770 p.Val368Gly LB/B rs12733746 - ZSWIM6 Q9HCJ5 VAR_071802 p.Arg1163Trp LP/P rs587777695 Acromelic frontonasal dysostosis (AFND) [MIM:603671] ZSWIM6 Q9HCJ5 VAR_076431 p.Ser763Arg LB/B - - ZUP1 Q96AP4 VAR_026889 p.Asn379Asp LB/B rs4946188 - ZW10 O43264 VAR_053537 p.Ile77Met LB/B rs2271796 - ZWILCH Q9H900 VAR_038055 p.Ser344Gly LB/B rs11071896 - ZWINT O95229 VAR_028783 p.Ala4Ser LB/B rs11005328 - ZWINT O95229 VAR_051505 p.Arg187Gly LB/B rs2241666 - ZXDA P98168 VAR_033002 p.Gly376Ser LB/B rs1057327 - ZXDA P98168 VAR_076439 p.Arg202Gly LB/B rs139564495 - ZXDB P98169 VAR_033003 p.Ala736Thr LB/B rs1057338 - ZXDB P98169 VAR_033004 p.Asn760Ser LB/B rs1057340 - ZXDB P98169 VAR_033005 p.Asp764Asn LB/B rs1057341 - ZXDB P98169 VAR_033006 p.Thr791Arg LB/B rs1057343 - ZXDC Q2QGD7 VAR_057464 p.Pro562Leu LB/B rs16837497 - ZYX Q15942 VAR_034081 p.His223Leu LB/B rs11978404 - ZZEF1 O43149 VAR_032551 p.Val30Ala LB/B rs1454121 - ZZEF1 O43149 VAR_032552 p.Ile1021Val LB/B rs16953687 - ZZEF1 O43149 VAR_032553 p.Ser1437Ala LB/B rs4790555 - ZZEF1 O43149 VAR_032554 p.Leu1972Pro LB/B rs781852 - ZZEF1 O43149 VAR_032555 p.Ile2014Val LB/B rs781831 - ZZEF1 O43149 VAR_032556 p.Pro2051Ser LB/B rs1006954 - ZZEF1 O43149 VAR_032557 p.Tyr2301His LB/B rs34357158 - ZZEF1 O43149 VAR_032558 p.Leu2303Pro LB/B rs35638819 - ZZEF1 O43149 VAR_032559 p.Glu2369Gln LB/B rs711177 - ZZEF1 O43149 VAR_032560 p.Ala2421Thr LB/B rs781861 - ZZZ3 Q8IYH5 VAR_035718 p.Pro456Ser US - A colorectal cancer sample - C0HM83 VAR_088368 p.Asp47Asn LB/B rs2853499 - - Q0VG73 VAR_044030 p.Ser19Arg LB/B rs12629299 - - Q0VG73 VAR_044031 p.Ile63Met LB/B rs10936873 - - Q6ZRM9 VAR_042676 p.Ala149Val LB/B rs12667117 - - Q6ZRM9 VAR_042677 p.Val158Met LB/B rs12671601 - - Q6ZRM9 VAR_042678 p.Phe205Leu LB/B rs10274643 - - Q6ZRN7 VAR_043457 p.Ala108Gly LB/B rs7206805 - - Q6ZRP5 VAR_043569 p.Arg2His LB/B rs11944677 - - Q6ZTK2 VAR_039362 p.Gln100Arg LB/B rs8050530 - - Q6ZTK2 VAR_039363 p.Gln183His LB/B rs7206698 - - Q6ZTK2 VAR_039364 p.Val275Ala LB/B rs12932948 - - Q6ZTK2 VAR_039365 p.Glu330Gln LB/B rs12933868 - - Q6ZTK2 VAR_039366 p.Val345Ile LB/B rs13337464 - - Q6ZTK2 VAR_039367 p.Thr368Ala LB/B rs4467099 - - Q6ZTK2 VAR_039368 p.Trp419Arg LB/B rs4238608 - - Q6ZVL8 VAR_043708 p.Thr30Ala LB/B rs8060538 - - Q6ZVL8 VAR_043709 p.Gly75Arg LB/B rs8055082 - - Q6ZVL8 VAR_043710 p.Lys82Arg LB/B rs9940490 - - Q6ZVL8 VAR_043711 p.Pro105Ser LB/B rs8053661 - - Q6ZVL8 VAR_043712 p.Cys136Ser LB/B rs8055382 - - Q8IYB0 VAR_044325 p.Asp129Tyr US - A colorectal cancer sample - Q8N2B8 VAR_043938 p.Arg127Gln US - A colorectal cancer sample - Q8N402 VAR_042673 p.Pro97Leu LB/B rs12169718 - - Q8N402 VAR_042674 p.Thr114Ser LB/B rs6519443 - - Q8N402 VAR_042675 p.Thr131Pro LB/B rs6519442 - - Q96M66 VAR_039178 p.Arg37His LB/B rs350229 - - Q96M66 VAR_039179 p.Arg171Ser LB/B rs11648228 - - Q9N2K0 VAR_017799 p.Val81Leu LB/B - - - Q9N2K0 VAR_017800 p.Phe150Leu LB/B - - -------------------------------------------------------------------------------- Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms Distributed under the Creative Commons Attribution (CC BY 4.0) License --------------------------------------------------------------------------------