-------------------------------------------------------------------------------- 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: 2021_03 of 02-Jun-2021 -------------------------------------------------------------------------------- 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: 31398 LB/B: 39584 US: 8763 Total: 79745 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 2N (CMT2N) [MIM:613287] AARS1 P49588 VAR_067084 p.Asn71Tyr LP/P rs387906792 Charcot-Marie-Tooth disease 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] 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] 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 - - 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 US - - 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 - Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_084242 p.Arg280Cys US - 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 LP/P 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 LP/P 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 LB/B rs61754024 - ABCA4 P78363 VAR_008421 p.Asp645Asn LP/P rs61749418 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008422 p.Gly818Glu LP/P rs61750202 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] 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 LP/P 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 LP/P rs1762111 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008458 p.Ile1562Thr LP/P rs1762111 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008458 p.Ile1562Thr LP/P rs1762111 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008458 p.Ile1562Thr LP/P 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 LP/P 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 LP/P 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 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_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 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 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 LP/P 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 LB/B rs1800555 - 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 LB/B rs61750575 - 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 LB/B rs62646862 - 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 LB/B rs145525174 - 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_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 LP/P 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_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 LP/P 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 LP/P rs61750155 Cone-rod dystrophy 3 (CORD3) [MIM:604116] 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 rs281865404 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 LB/B rs61753032 - 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 LP/P 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] 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 LB/B 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 US - - ABCB6 Q9NP58 VAR_084495 p.Arg276Trp US - - ABCB6 Q9NP58 VAR_084496 p.Ala492Thr US - - ABCB6 Q9NP58 VAR_084497 p.Thr521Ser US - - ABCB6 Q9NP58 VAR_084498 p.Gly588Ser US - - ABCB6 Q9NP58 VAR_084499 p.Ala681Thr US - - 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 rs4780606 - 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 LP/P 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 rs3853814 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 LP/P 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 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008537 p.Arg1352Pro LP/P rs28936370 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008539 p.Arg1420Cys LP/P rs28938469 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008540 p.Arg1493Trp LP/P rs28936371 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008639 p.Arg74Gln LP/P rs72559734 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008640 p.His125Gln LP/P rs60637558 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008641 p.Val187Asp LP/P rs137852672 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008642 p.Asn188Ser LP/P rs797045213 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008643 p.Arg275Gln LB/B rs185040406 - ABCC8 Q09428 VAR_008644 p.Asn406Asp LP/P rs72559728 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008645 p.Val560Met LB/B rs4148619 - ABCC8 Q09428 VAR_008646 p.Phe591Leu LP/P rs72559726 Familial hyperinsulinemic hypoglycemia 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 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008650 p.Arg1214Gln LP/P rs367850779 Familial hyperinsulinemic hypoglycemia 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 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008654 p.Gly1381Ser LP/P rs773448052 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008655 p.Arg1393His LP/P rs769279368 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008656 p.Gly1478Arg LP/P rs72559715 Familial hyperinsulinemic hypoglycemia 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 - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_015008 p.Arg1436Gln LP/P rs387906407 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_015009 p.Glu1506Lys LP/P rs137852671 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_015010 p.Leu1543Pro LP/P rs72559713 Familial hyperinsulinemic hypoglycemia 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 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031350 p.Val21Asp LP/P rs200670692 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031351 p.Phe27Ser LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031352 p.Gly70Glu LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031353 p.Arg74Trp LP/P rs201682634 Familial hyperinsulinemic hypoglycemia 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 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031356 p.Ala116Pro LP/P rs72559731 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031357 p.Met233Arg LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031358 p.Asp310Asn LP/P rs769569410 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031359 p.Cys418Arg LP/P rs67254669 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031360 p.Arg495Gln LP/P rs1420601296 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031361 p.Glu501Lys LP/P rs372307320 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031362 p.Leu503Pro LP/P rs1554933168 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031363 p.Leu508Pro LP/P rs72559727 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031364 p.Pro551Arg LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031365 p.Arg620Cys LP/P rs58241708 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031366 p.Phe686Ser LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031367 p.Lys719Thr LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031368 p.Arg841Gly LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031369 p.Lys889Thr LP/P rs761862121 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031370 p.Ser956Phe LP/P rs72559721 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031371 p.Thr1130Pro LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031372 p.Leu1147Arg LP/P rs1262517518 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031373 p.Arg1214Trp LP/P rs139964066 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031374 p.Asn1295Lys LP/P rs542157938 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031375 p.Lys1336Asn LP/P rs67767715 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031376 p.Gly1342Glu LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031377 p.Leu1349Gln LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031378 p.Lys1384Gln LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031379 p.Ser1386Phe LP/P rs72559718 Familial hyperinsulinemic hypoglycemia 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 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031381 p.Arg1418His LP/P rs1446306735 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031382 p.Leu1450Pro LP/P rs1554904565 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031383 p.Ala1457Thr LP/P rs72559717 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031384 p.Asp1471His LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031385 p.Asp1471Asn LP/P rs72559716 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031386 p.Arg1486Lys LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031387 p.Arg1493Gln LP/P rs746480424 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031388 p.Val1550Asp LP/P rs1221760584 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031389 p.Leu1551Val LP/P rs1320740169 Familial hyperinsulinemic hypoglycemia 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 LP/P 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 LP/P 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 LP/P rs80356651 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072940 p.Leu511Met LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072941 p.Gly716Asp LP/P rs72559723 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072942 p.Glu824Lys LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072943 p.Leu890Pro LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072944 p.Ala1184Glu LP/P rs137852675 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072945 p.Glu1326Lys LP/P rs200563930 Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] ABCC8 Q09428 VAR_072946 p.Gly1378Ser LP/P rs925231098 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072947 p.Ser1388Tyr LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072948 p.Leu1389Pro LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072949 p.Ala1457Val LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072950 p.Asn1480Ile LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072951 p.Asp1505Glu LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072952 p.Ile1511Ser LP/P - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072953 p.Val1522Leu LP/P - 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 US 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_000036 p.Arg152Cys LP/P rs1569540693 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_000042 p.Tyr181Cys 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 - 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 LP/P 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 - 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 - 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 - 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 - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009386 p.Ser633Arg LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009387 p.Ser636Ile LP/P - 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 - 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 LP/P 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 - 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 LP/P 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_023004 p.Cys88Trp LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_023005 p.Gly343Ser LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_023006 p.Leu503Pro LP/P - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_023007 p.Ser514Arg 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 - 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] 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 - 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.Asp137Glu 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 - 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.Asp670Gly 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 - 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 LB/B rs2230178 - 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 rs4302 - 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 - 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] 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.Glu166Lys 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] 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 Mental retardation, X-linked 63 (MRX63) [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 - 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 Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800] ACTA1 P68133 VAR_011681 p.Leu96Pro LP/P rs121909519 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_011682 p.Asn117Ser LP/P rs121909520 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_011683 p.Ile138Met LP/P rs121909526 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_011684 p.Val165Leu LP/P rs121909522 Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800] ACTA1 P68133 VAR_011685 p.Glu261Val LP/P rs121909523 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_011686 p.Gly270Cys LP/P rs121909525 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_011687 p.Val372Phe LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_013470 p.Met134Val LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_013471 p.Met271Arg LP/P rs1553255360 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015579 p.His42Tyr LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015580 p.Gly184Asp LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015581 p.Arg185Gly LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015582 p.Arg185Cys LP/P rs1064794287 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015583 p.Arg258His LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015584 p.Gln265Leu LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015585 p.Asn282Lys LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015586 p.Asp288Gly LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015587 p.Ile359Leu LP/P rs121909524 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_032917 p.Leu223Pro LP/P rs121909530 Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310] ACTA1 P68133 VAR_032918 p.Asp294Val LP/P rs121909529 Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310] ACTA1 P68133 VAR_032919 p.Pro334Ser LP/P rs121909531 Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310] ACTA1 P68133 VAR_062424 p.Asp3Tyr LP/P rs121909527 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062425 p.Asp27Asn LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062426 p.Val37Leu LP/P rs1553255521 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062427 p.Pro40Leu LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062428 p.Gln43Arg LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062429 p.Gly44Val LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062430 p.Val45Phe LP/P rs398123562 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062431 p.Ile66Asn LP/P rs1553255502 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062432 p.Thr68Ile LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062433 p.Glu74Lys LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062434 p.His75Leu LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062435 p.His75Arg LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062436 p.Ile77Leu LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062437 p.Thr79Ala LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062438 p.Glu85Lys LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062439 p.Ala116Thr LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062440 p.Asn117Thr LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062441 p.Arg118His LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062442 p.Val136Ala LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062443 p.Ala140Pro LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062444 p.Leu142Pro LP/P rs1553255482 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062445 p.Gly148Asp LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062446 p.Thr150Asn LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062447 p.Asp156Asn LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062448 p.Val165Met LP/P rs121909522 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062449 p.Ala172Gly LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062450 p.Asp181Gly LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062451 p.Asp181His LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062452 p.Asp181Asn LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062453 p.Arg185Asp LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062454 p.Arg185Ser LP/P rs1064794287 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062455 p.Arg198Leu LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062456 p.Gly199Ser LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062457 p.Glu226Gly LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062458 p.Glu226Gln LP/P rs1057521118 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062459 p.Asn227Val LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062460 p.Met229Ile LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062461 p.Met229Thr LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062462 p.Met229Val LP/P rs794727714 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062463 p.Glu243Lys LP/P rs367543051 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062464 p.Gln248Lys LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062465 p.Gln248Arg LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062466 p.Gly253Asp LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062467 p.Arg258Leu LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062468 p.Gly270Asp LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062469 p.Gly270Arg LP/P rs121909525 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062470 p.Ala274Glu LP/P rs1553255357 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062471 p.Tyr281His LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062472 p.Met285Lys LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062473 p.Glu336Ala LP/P rs121909528 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062474 p.Lys338Glu LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062475 p.Lys338Ile LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062476 p.Ser350Leu LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062477 p.Arg374Ser LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062478 p.Lys375Glu LP/P rs1571892209 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062479 p.Lys375Gln LP/P - Nemaline myopathy 3 (NEM3) [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 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_076428 p.Trp358Cys LP/P rs587777354 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_083589 p.Pro72Arg LP/P - Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_083590 p.Ala116Val LP/P - Nemaline myopathy 3 (NEM3) [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] ACTB P60709 VAR_030026 p.Arg183Trp LP/P rs104894003 Dystonia, juvenile-onset (DJO) [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 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071280 p.Arg40His LP/P rs587777386 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071281 p.Met45Thr LP/P rs864309490 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071282 p.Arg63Gly LP/P rs864309491 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071283 p.Pro110Leu LP/P - Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071284 p.Tyr134Asn LP/P rs587777388 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071285 p.Arg148Ser LP/P rs587777383 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071286 p.Arg178Cys LP/P rs78001248 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071287 p.Arg178His LP/P rs587777384 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071288 p.Arg178Leu LP/P rs587777384 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071289 p.Gly198Asp LP/P rs864309492 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071290 p.Arg257Cys LP/P rs587777387 Visceral myopathy (VSCM) [MIM:155310] ACTL6A O96019 VAR_079728 p.Glu227Gln US rs1035631360 - ACTL6A O96019 VAR_079729 p.Arg377Trp LP/P 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 - ACTL8 Q9H568 VAR_032079 p.Ala3Ser LB/B rs694214 - ACTL8 Q9H568 VAR_032080 p.Arg245Cys LB/B rs3795322 - ACTL9 Q8TC94 VAR_043000 p.Phe37Ser LB/B rs2340550 - ACTL9 Q8TC94 VAR_043001 p.Ala42Asp US - A colorectal cancer sample ACTL9 Q8TC94 VAR_043002 p.Val51Ala LB/B rs10410943 - ACTL9 Q8TC94 VAR_043003 p.His227Asn LB/B rs4804079 - ACTL9 Q8TC94 VAR_043004 p.Ala332Thr US rs782721280 A colorectal cancer sample 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 - Myopathy, distal, 6, adult onset, autosomal dominant (MPD6) [MIM:618655] ACTN2 P35609 VAR_083365 p.Cys487Arg LP/P - Myopathy, distal, 6, adult onset, autosomal dominant (MPD6) [MIM:618655] ACTN2 P35609 VAR_083366 p.Leu727Arg LP/P rs1572148902 Myopathy, congenital, with structured cores and Z-line abnormalities (MYOCOZ) [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 - 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 - 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 - 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 - Mental retardation, autosomal recessive 36 (MRT36) [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 LP/P rs796065306 Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703] ADCY5 O95622 VAR_073778 p.Arg418Trp LP/P rs864309483 Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703] 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 LP/P 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 - ADGRF2 Q8IZF7 VAR_024473 p.Gln148Arg LB/B rs6907125 - ADGRF2 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 Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] ADGRG1 Q9Y653 VAR_026243 p.Tyr88Cys LP/P rs121908466 Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] ADGRG1 Q9Y653 VAR_026244 p.Cys91Ser LP/P rs121908465 Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] ADGRG1 Q9Y653 VAR_026245 p.Cys346Ser LP/P rs121908463 Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] ADGRG1 Q9Y653 VAR_026246 p.Arg565Trp LP/P rs121908464 Polymicrogyria, bilateral frontoparietal (BFPP) [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 Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] ADGRG1 Q9Y653 VAR_069582 p.Trp349Ser LP/P - Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] ADGRG1 Q9Y653 VAR_069583 p.Glu496Lys LP/P rs556518689 Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] ADGRG1 Q9Y653 VAR_069584 p.Leu640Arg LP/P - Polymicrogyria, bilateral frontoparietal (BFPP) [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 - 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.Arg48His 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 - 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 (ADPND) [MIM:612556] ADIPOQ Q15848 VAR_013275 p.Val117Met LB/B rs747223144 - ADIPOQ Q15848 VAR_013276 p.Ile164Thr LB/B rs185847354 - 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 LP/P rs201735454 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.Arg389Gly LB/B rs1801253 - ADRB1 P08588 VAR_018742 p.Arg389Leu LB/B rs17875445 - 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 - - 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] 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 - 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 - 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 - 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 - Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084610 p.Asp407Gly US - 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 - Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084613 p.Ala462Val LP/P - Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084613 p.Ala462Val LP/P - Spastic ataxia 5, autosomal recessive (SPAX5) [MIM:614487] AFG3L2 Q9Y4W6 VAR_084614 p.Arg465Lys LP/P - Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084615 p.Arg468Cys LP/P - Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084616 p.Pro514Leu LP/P - Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084617 p.Tyr605Cys US - Optic atrophy 12 (OPA12) [MIM:618977] AFG3L2 Q9Y4W6 VAR_084618 p.Gln620Lys LP/P - Spastic ataxia 5, autosomal recessive (SPAX5) [MIM:614487] AFG3L2 Q9Y4W6 VAR_084619 p.Thr644Ser US - 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 rs15718 - 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 LP/P rs34203073 Klippel-Trenaunay syndrome (KTS) [MIM:149000] 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 - - 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] 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.Thr207Met LB/B rs4762 - AGT P01019 VAR_007094 p.Thr242Ile LB/B rs765678426 - AGT P01019 VAR_007095 p.Leu244Arg LB/B rs5041 - AGT P01019 VAR_007096 p.Met268Thr LB/B rs699 - AGT P01019 VAR_007097 p.Tyr281Cys LB/B rs56073403 - AGT P01019 VAR_014573 p.Leu392Met LB/B rs1805090 - AGT P01019 VAR_022933 p.Leu43Phe LB/B rs41271499 - AGT P01019 VAR_029166 p.Glu98Lys LB/B rs11568032 - AGT P01019 VAR_029167 p.Met268Ile LB/B rs11568053 - AGT P01019 VAR_035431 p.Thr137Met LB/B rs34829218 - AGT P01019 VAR_035432 p.Pro335Ser LB/B rs17856352 - AGT P01019 VAR_035433 p.Arg375Gln LP/P rs74315283 Renal tubular dysgenesis (RTD) [MIM:267430] AGT P01019 VAR_051939 p.Gly114Cys 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 - 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] AHDC1 Q5TGY3 VAR_037765 p.Ala935Thr LB/B rs4908364 - 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] 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 rs2582511 - 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-mental retardation 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 LP/P 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.Gln307Arg 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 LB/B 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 - AKAP2 Q9Y2D5 VAR_024248 p.Leu561Ser LB/B rs914358 - 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 - 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 - AKR1C8P 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 LP/P rs121434593 Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] 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 LB/B 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 LB/B 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 - 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.Leu107Arg 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 LB/B rs671 - 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 LP/P rs72552258 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 Pyridoxine-dependent epilepsy (PDE) [MIM:266100] ALDH7A1 P49419 VAR_031719 p.Glu427Gln LP/P rs121912707 Pyridoxine-dependent epilepsy (PDE) [MIM:266100] ALDH7A1 P49419 VAR_069184 p.Gly202Val LP/P - Pyridoxine-dependent epilepsy (PDE) [MIM:266100] ALDH7A1 P49419 VAR_069185 p.Gly291Glu LP/P - Pyridoxine-dependent epilepsy (PDE) [MIM:266100] ALDH7A1 P49419 VAR_069186 p.Asn301Ile LP/P rs121912711 Pyridoxine-dependent epilepsy (PDE) [MIM:266100] ALDH7A1 P49419 VAR_069187 p.Arg335Gln LP/P rs754449549 Pyridoxine-dependent epilepsy (PDE) [MIM:266100] ALDH7A1 P49419 VAR_069188 p.Val395Gly LP/P - Pyridoxine-dependent epilepsy (PDE) [MIM:266100] ALDH7A1 P49419 VAR_069189 p.Ser458Asn LP/P - Pyridoxine-dependent epilepsy (PDE) [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 LB/B 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 - Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077192 p.Leu114Phe LP/P - Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077193 p.Ile209Ser LP/P - 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 - 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 - Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077204 p.His367Gln LP/P - Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077205 p.Met382Lys LP/P - 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] ALG1L Q6GMV1 VAR_039962 p.Asn135Asp LB/B rs3828357 - ALG1L Q6GMV1 VAR_039963 p.Ile159Thr LB/B rs3811679 - ALG1L Q6GMV1 VAR_039964 p.Gly184Ser LB/B rs3187686 - 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] 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 - 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 - 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.Thr414Ser LB/B rs3803403 - ALPK3 Q96L96 VAR_028990 p.Gly579Glu LB/B rs3803405 - ALPK3 Q96L96 VAR_028991 p.Thr761Met LB/B rs16974569 - ALPK3 Q96L96 VAR_028992 p.Pro1299Leu LB/B rs306197 - ALPK3 Q96L96 VAR_028993 p.Leu1622Pro LB/B rs187316 - ALPK3 Q96L96 VAR_041524 p.Arg336His LB/B rs34407151 - ALPK3 Q96L96 VAR_041525 p.Thr338Ile LB/B rs56015306 - ALPK3 Q96L96 VAR_041526 p.Gln433Glu US - A lung large cell carcinoma sample ALPK3 Q96L96 VAR_041527 p.Gln602Arg LB/B rs55702300 - ALPK3 Q96L96 VAR_041528 p.Gly663Asp LB/B rs34409363 - ALPK3 Q96L96 VAR_041529 p.Arg836Leu LB/B rs34906636 - ALPK3 Q96L96 VAR_041530 p.Glu929Asp LB/B rs56191073 - ALPK3 Q96L96 VAR_041531 p.Gly1364Glu US - A metastatic melanoma sample ALPK3 Q96L96 VAR_041532 p.Arg1412Trp LB/B rs55752937 - ALPK3 Q96L96 VAR_041533 p.Ala1557Asp LB/B rs34775428 - ALPK3 Q96L96 VAR_057743 p.Glu1013Lys LB/B rs35633849 - ALPK3 Q96L96 VAR_057744 p.Ala1137Gly LB/B rs34173528 - ALPK3 Q96L96 VAR_057745 p.Ala1873Val 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 type (HOPSC) [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 type (HOPSI) [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 type (HOPSI) [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 type (HOPSI) [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 infantile type (HOPSI) [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 type (HOPSI) [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 LB/B 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 type (HOPSC) [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 type (HOPSI) [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 type (HOPSC) [MIM:241510] ALPL P05186 VAR_025908 p.Arg71Ser LP/P rs121918001 Hypophosphatasia childhood type (HOPSC) [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 type (HOPSC) [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 type (HOPSI) [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 type (HOPSC) [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] 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 LP/P rs281865153 Craniosynostosis 5 (CRS5) [MIM:615529] ALX4 Q9H161 VAR_069280 p.Lys211Glu LP/P rs281865154 Craniosynostosis 5 (CRS5) [MIM:615529] 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 - 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.Pro81Leu LB/B rs61752479 - AMPD1 P23109 VAR_013271 p.Arg421Trp LP/P rs35859650 Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511] AMPD1 P23109 VAR_013272 p.Arg458His LP/P rs121912682 Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511] AMPD1 P23109 VAR_035801 p.Pro666His US - A colorectal cancer sample AMPD1 P23109 VAR_048860 p.Glu55Lys LB/B rs2273268 - AMPD2 Q01433 VAR_069105 p.Ile522Val LB/B rs201254826 - AMPD2 Q01433 VAR_071158 p.Arg674His LP/P rs587777395 Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809] AMPD2 Q01433 VAR_071159 p.Asp793Tyr LP/P rs587777394 Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809] AMPD2 Q01433 VAR_071193 p.Glu778Asp 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 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_007952 p.Gly47Arg LP/P rs121964982 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_007953 p.Gly269Asp LP/P rs121964981 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_007954 p.Asp276His LP/P rs121964984 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_007955 p.Arg320His LP/P rs121964985 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_016847 p.Asn145Ile LP/P rs386833682 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_016848 p.Glu211Lys LP/P rs116192290 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_074107 p.Arg265Cys LP/P rs779483959 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_078794 p.Arg94Trp LP/P rs1126422 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_078795 p.Arg222Cys LP/P rs781466698 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_078796 p.Arg296Cys LP/P rs1056820947 Non-ketotic hyperglycinemia (NKH) [MIM:605899] 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 LB/B 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 - ANGPT2 O15123 VAR_049069 p.Val333Ile LB/B rs7813215 - 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.Val445Ile 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] 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 - 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.Arg592Gln LB/B rs41315701 - 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 - 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 US 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 US 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 LP/P - - 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] ANP32C O43423 VAR_020419 p.Arg71Lys LB/B rs2288675 - ANP32C O43423 VAR_020420 p.Glu204Gly LB/B rs2288676 - ANP32C O43423 VAR_026702 p.Ala23Val LB/B rs2288674 - ANP32C O43423 VAR_026703 p.Tyr140His LB/B - - ANP32C 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] 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.Thr777Ala LB/B rs2857465 - AP1B1 Q10567 VAR_083524 p.Cys144Arg LP/P - 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 - 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 LP/P rs116107386 Psoriasis 15, pustular (PSORS15) [MIM:616106] 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 LP/P rs138292988 Psoriasis 15, pustular (PSORS15) [MIM:616106] 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.Tyr1422Cys 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 LP/P rs60910145 Focal segmental glomerulosclerosis 4 (FSGS4) [MIM:612551] APOL1 O14791 VAR_063598 p.Ser342Gly LP/P rs73885319 Focal segmental glomerulosclerosis 4 (FSGS4) [MIM:612551] APOL2 Q9BQE5 VAR_012978 p.Ile245Val 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 - 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 - 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, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_004402 p.Arg187Cys LP/P rs104894328 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_004403 p.Ser216Pro LP/P rs104894329 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015239 p.Leu22Val LP/P rs104894336 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015240 p.Leu28Pro LP/P - Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015241 p.Ala47Val LP/P rs995684800 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015242 p.Asn68Ser LP/P rs104894331 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015243 p.Val71Met LP/P rs149659001 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015244 p.Thr125Met LP/P rs104894333 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015245 p.Thr126Met LP/P rs104894330 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015246 p.Ala147Thr LP/P rs104894334 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015247 p.Val168Met LP/P rs755694590 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015248 p.Gly175Arg LP/P rs104894335 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015249 p.Cys181Trp LP/P rs104894337 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015250 p.Pro185Ala LP/P rs761713751 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015251 p.Ala190Thr LP/P rs104894341 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015252 p.Val194Ile LB/B rs772051028 - AQP2 P41181 VAR_015253 p.Trp202Cys LP/P - Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015254 p.Glu258Lys LP/P rs104894332 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015255 p.Pro262Leu LP/P rs104894339 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015256 p.Gln57Pro LP/P rs28931580 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015257 p.Gly100Val LP/P rs104894338 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_037577 p.Leu121Phe LB/B rs11169226 - AQP2 P41181 VAR_062585 p.Ala70Asp LP/P - Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_062586 p.Gly100Arg LP/P rs1303076207 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_062587 p.Gly180Ser LP/P rs147039983 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_062588 p.Arg187His LP/P rs193922495 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_062589 p.Arg254Leu LP/P - Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_062590 p.Arg254Gln LP/P - Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_071370 p.Thr108Met LP/P rs1468828294 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP3 Q92482 VAR_025089 p.Val43Met LB/B rs34942735 - 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 US rs137852578 Prostate cancer 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 - Prostate cancer 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 US rs864622007 Prostate cancer AR P10275 VAR_009773 p.Leu702His LP/P rs864622007 Androgen insensitivity syndrome (AIS) [MIM:300068] 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 - 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 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.Gly133Arg LB/B rs6100455 - ARHGAP40 Q5TG30 VAR_042893 p.Arg413Leu LB/B rs6070872 - ARHGAP40 Q5TG30 VAR_042894 p.His463Asn 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 LP/P - - 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.Gly814Ala US - A breast cancer sample ARID1B Q8NFD5 VAR_067664 p.Gln82His LB/B - - ARID1B Q8NFD5 VAR_067665 p.Gly246Ser LB/B rs375160616 - ARID1B Q8NFD5 VAR_067670 p.Ala363Val LB/B rs748273011 - ARID1B Q8NFD5 VAR_067671 p.Gly396Ala LB/B rs760718156 - ARID1B Q8NFD5 VAR_067672 p.Met429Val LB/B rs199948752 - ARID1B Q8NFD5 VAR_067674 p.Ser497Asn LB/B rs764716697 - ARID1B Q8NFD5 VAR_067675 p.Met531Thr LB/B rs141260832 - ARID1B Q8NFD5 VAR_067676 p.Gln876Glu LB/B rs138254872 - ARID1B Q8NFD5 VAR_067677 p.Gln980Leu LB/B rs139620600 - ARID1B Q8NFD5 VAR_067678 p.Val1092Ile LB/B rs775526039 - ARID1B Q8NFD5 VAR_067679 p.Gln1249Pro LB/B rs768013849 - ARID1B Q8NFD5 VAR_067680 p.Gly1271Glu LB/B rs149389876 - ARID1B Q8NFD5 VAR_067681 p.Gly1303Arg LB/B rs199674889 - ARID1B Q8NFD5 VAR_067682 p.Ser1321Asn LB/B rs142808724 - ARID1B Q8NFD5 VAR_067683 p.Pro1411Ser LB/B - - ARID1B Q8NFD5 VAR_067684 p.Gln1466Lys LB/B - - ARID1B Q8NFD5 VAR_067685 p.Arg1506His LB/B rs1449208173 - ARID1B Q8NFD5 VAR_067686 p.Thr1573Met LB/B rs777745107 - ARID1B Q8NFD5 VAR_067687 p.Asn1659Ser LB/B rs140177120 - ARID1B Q8NFD5 VAR_067689 p.Lys1773Arg LB/B rs574141489 - ARID1B Q8NFD5 VAR_067690 p.Asp1851Asn LB/B rs200305796 - ARID1B Q8NFD5 VAR_067691 p.Lys1898Arg LB/B rs758204258 - ARID1B Q8NFD5 VAR_067692 p.Lys1954Arg LB/B rs756220726 - ARID1B Q8NFD5 VAR_067693 p.Gln2163Arg LB/B - - ARID1B Q8NFD5 VAR_077456 p.Ser771Leu US - - ARID1B Q8NFD5 VAR_077457 p.Gly1436Ala LP/P - - ARID1B Q8NFD5 VAR_077458 p.Pro1563Leu US rs1455506883 - ARID1B Q8NFD5 VAR_077459 p.Asp1987Tyr LP/P - - ARID1B Q8NFD5 VAR_078697 p.Pro488Arg US rs769085274 - ARID1B Q8NFD5 VAR_078698 p.Pro1413Ser 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 LP/P rs1052050835 - ARIH1 Q9Y4X5 VAR_082647 p.Glu44Gly LP/P - - 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 - 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.Lys286Arg US - - ARL6IP4 Q66PJ3 VAR_059583 p.Pro149Ala LB/B rs12825243 - 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 - 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 - ARNTL2 Q8WYA1 VAR_030158 p.Asn340Ser LB/B rs1037921 - ARNTL2 Q8WYA1 VAR_030159 p.Ala574Val LB/B rs11049005 - ARPC1B O15143 VAR_014477 p.Lys37Asn LB/B rs1045012 - ARPC1B O15143 VAR_080353 p.Ala105Val US - Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease (PLTEID) [MIM:617718] ARPC1B O15143 VAR_080354 p.Ala238Thr US rs147238850 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease (PLTEID) [MIM:617718] 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 LP/P 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 - 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.Asn265Asp 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 Mental retardation, X-linked, with or without seizures, ARX-related (MRXARX) [MIM:300419] ARX Q96QS3 VAR_015671 p.Gly286Ser LP/P rs28935479 Mental retardation, X-linked, with or without seizures, ARX-related (MRXARX) [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] 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.Pro160Ser 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.Arg54Leu 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 Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_069407 p.Lys972Arg US - Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_069408 p.Tyr1276His US rs539982914 Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_069409 p.Cys1775Trp US rs753734834 Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_069410 p.Asp2853Gly US - Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_080559 p.Val2085Ile US rs749494995 Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_080561 p.Arg2396His US rs753029013 Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_080562 p.Ala2791Pro LP/P rs1553241570 Mental retardation, 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.Pro614Gln LB/B rs6436153 - ASIC4 Q96FT7 VAR_052039 p.Arg616Leu LB/B rs11689281 - ASIC4 Q96FT7 VAR_059806 p.Val619Ala 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] 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_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 LP/P rs2241880 Inflammatory bowel disease 10 (IBD10) [MIM:611081] 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 - 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 - 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 AICAR transformylase/IMP cyclohydrolase 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 LB/B rs1800054 - 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 LB/B rs1800057 - ATM Q13315 VAR_010819 p.His1082Leu LP/P - 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_010824 p.Lys1454Asn LB/B rs148993589 - 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 LB/B rs1800059 - 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 LP/P rs587781302 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010839 p.Gly2063Glu LP/P 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 LP/P 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 T-prolymphocytic leukemia 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 LP/P - 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 LP/P 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 - - 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 - ATOH8 Q96SQ7 VAR_039582 p.Leu150Pro LB/B rs17851881 - 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 - 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 (HAXL) [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] 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 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081040 p.Ile592Thr US rs1553192086 Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081041 p.Ala597Thr US - Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081042 p.Pro600Ala LP/P rs1553192091 Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081043 p.Pro600Thr US rs1553192091 Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081044 p.Asp601Phe US - Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081045 p.Asp811Ala LP/P rs1553192783 Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081937 p.Leu302Arg LP/P - Hypomagnesemia, seizures, and mental retardation 2 (HOMGSMR2) [MIM:618314] ATP1A1 P05023 VAR_081938 p.Gly303Arg LP/P rs1557785503 Hypomagnesemia, seizures, and mental retardation 2 (HOMGSMR2) [MIM:618314] ATP1A1 P05023 VAR_081939 p.Met859Arg LP/P rs781629728 Hypomagnesemia, seizures, and mental retardation 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 - 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 - ATP1A2 P50993 VAR_078232 p.Arg593Trp US rs886039530 - 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_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 LP/P rs879255368 - 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 myopathy (BRM) [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 - - 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 4 (MC5DN4) [MIM:615228] ATP5F1A P25705 VAR_071982 p.Tyr321Cys LP/P rs587777788 Combined oxidative phosphorylation deficiency 22 (COXPD22) [MIM:616045] ATP5F1B P06576 VAR_048371 p.Glu274Gln LB/B rs1042001 - ATP5F1B P06576 VAR_074188 p.Ala130Val LB/B - - 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 - 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] ATP6V0A2 Q9Y487 VAR_042730 p.Arg685Gln LB/B rs7969410 - ATP6V0A2 Q9Y487 VAR_042731 p.Ala813Val LB/B rs17883456 - ATP6V0A4 Q9HBG4 VAR_017255 p.Pro524Leu LP/P rs121908368 Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_017256 p.Met580Thr LP/P rs3807153 Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_017257 p.Gly820Arg LP/P rs267606671 Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_020992 p.Val2Ala LB/B rs10258719 - ATP6V0A4 Q9HBG4 VAR_020993 p.Gly175Asp LP/P - Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_020995 p.Arg449His LP/P rs1443883930 Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_020996 p.Arg807Gln LP/P rs28939081 Renal tubular acidosis, distal, autosomal recessive (RTADR) [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, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007867 p.Arg124Trp LP/P rs727505222 Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007868 p.Met174Arg LP/P - Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007869 p.Thr275Pro LP/P rs1161604514 Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007870 p.Gly316Glu LP/P rs1553420413 Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007871 p.Pro346Arg LP/P rs781838938 Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007872 p.Gly364Ser LP/P - Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_021011 p.Thr30Ile LB/B rs17720303 - ATP6V1B1 P15313 VAR_021012 p.Gly123Val LP/P rs1343871627 Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_021013 p.Arg157Cys LP/P rs782500780 Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [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 Distal spinal muscular atrophy, X-linked, 3 (DSMAX3) [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 Distal spinal muscular atrophy, X-linked, 3 (DSMAX3) [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_000709 p.Leu466Val LB/B - - 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_000718 p.Gly710Arg LP/P - 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_044467 p.Gly875Val 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_044475 p.Ala1065Pro LP/P - 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_044482 p.Val1252Ile 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 LB/B 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, mental retardation, and dysequilibrium syndrome 4 (CAMRQ4) [MIM:615268] ATP8A2 Q9NTI2 VAR_084370 p.Lys429Asn US - Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CAMRQ4) [MIM:615268] ATP8A2 Q9NTI2 VAR_084371 p.Lys429Met US - Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CAMRQ4) [MIM:615268] ATP8A2 Q9NTI2 VAR_084372 p.Ala544Pro US - Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CAMRQ4) [MIM:615268] ATP8A2 Q9NTI2 VAR_084375 p.Arg625Trp US rs764911379 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CAMRQ4) [MIM:615268] ATP8A2 Q9NTI2 VAR_084376 p.Trp702Arg US - Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CAMRQ4) [MIM:615268] ATP8A2 Q9NTI2 VAR_084377 p.Asn917Asp US - Cerebellar ataxia, mental retardation, 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, 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 mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001227 p.Leu192Phe LP/P - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001228 p.Cys200Ser LP/P - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001229 p.Cys220Arg LP/P - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001230 p.Trp222Ser LP/P - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001231 p.Cys243Phe LP/P - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001232 p.Arg246Cys LP/P rs122445105 Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001233 p.Gly249Asp LP/P - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001234 p.His1609Arg LP/P rs122445093 Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001235 p.Cys1614Arg LP/P rs122445094 Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001236 p.Lys1650Asn LP/P rs122445095 Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001237 p.Asn1860Ser LB/B rs45439799 - ATRX P46100 VAR_001238 p.Asp2035Val LP/P rs122445096 Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001239 p.Tyr2084His LP/P rs122445097 Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001240 p.Arg2131Gln LP/P rs122445101 Mental retardation-hypotonic facies syndrome, X-linked, 1 (MRXHF1) [MIM:309580] ATRX P46100 VAR_001241 p.Tyr2163Cys LP/P rs122445098 Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_010914 p.Arg246Leu LP/P - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012113 p.Gly175Glu LP/P - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012115 p.Asn179Ser LP/P rs398123425 Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012116 p.Pro190Leu LP/P rs1057518708 Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012117 p.Pro190Ser LP/P - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012118 p.Val194Ile LP/P - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012119 p.Gln219Pro LP/P - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012120 p.Gly249Cys LP/P - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012121 p.Val1538Gly US - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012122 p.Val1552Phe LP/P - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012123 p.Leu1645Ser LP/P - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012124 p.Pro1713Ser LP/P - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012125 p.Arg1742Lys LP/P rs122445104 Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012126 p.Tyr1847Cys LP/P - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012127 p.Ile2050Thr LP/P rs122445110 Mental retardation-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 mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_023438 p.Gln929Glu LB/B rs3088074 - ATRX P46100 VAR_032625 p.Cys220Tyr LP/P rs122445111 Mental retardation-hypotonic facies syndrome, X-linked, 1 (MRXHF1) [MIM:309580] ATRX P46100 VAR_032626 p.Leu409Ser LP/P rs122445109 Mental retardation-hypotonic facies syndrome, X-linked, 1 (MRXHF1) [MIM:309580] ATRX P46100 VAR_032627 p.Arg2271Gly LP/P rs122445112 Mental retardation-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.Val57Ile 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, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003519 p.Arg64Trp LB/B rs150351033 - AVPR2 P30518 VAR_003520 p.His80Arg LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003521 p.Val88Met LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003522 p.Arg106Cys LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003523 p.Cys112Arg LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003524 p.Arg113Trp LP/P rs28935496 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003525 p.Ser126Phe LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003526 p.Tyr128Ser LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003527 p.Ala132Asp LP/P rs104894747 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003528 p.Arg137His LP/P rs104894756 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003529 p.Arg143Pro LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003530 p.Ala147Val LB/B rs5200 - AVPR2 P30518 VAR_003531 p.Trp164Ser LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003532 p.Ser167Leu LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003533 p.Ser167Thr LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003534 p.Arg181Cys LP/P rs104894757 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003535 p.Gly185Cys LP/P rs104894748 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003536 p.Arg202Cys LP/P rs782806507 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003537 p.Arg203Cys LP/P rs104894750 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003538 p.Tyr205Cys LP/P rs104894749 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003541 p.Tyr280Cys LP/P rs104894752 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003542 p.Ala285Pro LP/P rs193922122 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003543 p.Pro286Leu LP/P rs1557100917 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003544 p.Pro286Arg LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003545 p.Leu292Pro LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003546 p.Leu309Pro LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003547 p.Asn317Lys LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003548 p.Trp323Ser LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [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, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015298 p.Ile46Lys LP/P rs104894759 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015299 p.Leu53Arg LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015300 p.Asn55Asp LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015301 p.Asn55His LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015302 p.Leu59Pro LP/P rs193922112 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015303 p.Ala61Val LB/B - - AVPR2 P30518 VAR_015304 p.Leu62Pro LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015305 p.Leu81Phe LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015306 p.Leu83Pro LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015307 p.Leu83Gln LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015308 p.Ala84Asp LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015309 p.Asp85Asn LP/P rs104894754 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015310 p.Gln92Arg LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015311 p.Leu94Gln LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015312 p.Pro95Leu LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015313 p.Trp99Arg LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015314 p.Arg104Cys LP/P rs104894760 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015315 p.Phe105Val LP/P rs104894758 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015316 p.Gly107Glu LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015317 p.Cys112Tyr LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015318 p.Gly122Arg LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015319 p.Met123Lys LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015320 p.Ser127Phe LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015321 p.Ile130Phe LP/P rs796052096 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015322 p.Leu135Pro LP/P rs1557100610 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015323 p.Arg139Ser LB/B - - AVPR2 P30518 VAR_015324 p.Ala163Pro LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015325 p.Pro173Ser LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015326 p.Gln174Leu LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015327 p.Asp191Gly LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015328 p.Gly201Asp LP/P rs104894755 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015329 p.Thr204Asn LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015330 p.Val206Asp LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015331 p.Thr207Asn LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015332 p.Ile209Phe LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015333 p.Phe214Ser LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015334 p.Val215Met LB/B rs112109182 - AVPR2 P30518 VAR_015335 p.Pro217Thr LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015336 p.Leu219Pro LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015337 p.Leu219Arg LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015338 p.Arg252Trp LB/B rs61733407 - AVPR2 P30518 VAR_015339 p.Met272Lys LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015340 p.Val277Ala LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015341 p.Leu282Pro LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015342 p.Pro286Ser LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015343 p.Phe287Leu LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015344 p.Leu289Pro LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015345 p.Ala294Pro LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015346 p.Leu309Arg LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015347 p.Ser315Arg LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015348 p.Ser318Thr LB/B - - AVPR2 P30518 VAR_015349 p.Cys319Arg LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015350 p.Asn321Asp LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015351 p.Asn321Lys LP/P rs193922123 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015352 p.Asn321Tyr LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015353 p.Pro322His LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015354 p.Pro322Ser LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015355 p.Trp323Arg LP/P - Diabetes insipidus, nephrogenic, X-linked (XNDI) [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, X-linked (XNDI) [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 - AXIN1 O15169 VAR_015589 p.Leu106Arg LP/P - Hepatocellular carcinoma (HCC) [MIM:114550] AXIN1 O15169 VAR_015590 p.Pro345Leu LP/P rs779951904 Hepatocellular carcinoma (HCC) [MIM:114550] AXIN1 O15169 VAR_015591 p.Gly425Ser LP/P rs116350678 Hepatocellular carcinoma (HCC) [MIM:114550] AXIN1 O15169 VAR_015592 p.Gly650Ser LP/P rs117208012 Hepatocellular carcinoma (HCC) [MIM:114550] AXIN1 O15169 VAR_015593 p.Arg841Gln LB/B rs34015754 - AXIN2 Q9Y2T1 VAR_054860 p.Ser50Pro 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 - 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.Ala341Thr 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 - 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 LB/B rs1065764 - B4GALT1 P15291 VAR_054020 p.His257Arg LB/B rs9169 - 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] BAALC Q8WXS3 VAR_056741 p.Ser129Thr LB/B rs34542607 - BAAT Q14032 VAR_023737 p.Met76Val LP/P rs28937579 Familial hypercholanemia (FHCA) [MIM:607748] BAAT Q14032 VAR_052303 p.Arg20Gln LB/B rs1572983 - 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 (IMD60) [MIM:618394] BACH2 Q9BYV9 VAR_082217 p.Glu788Lys US rs757652995 Immunodeficiency 60 (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 - - 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.Asn70Ser LP/P rs4784677 Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] 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 - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_066285 p.Glu629Lys LB/B 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 LB/B rs1251827333 - BBS4 Q96RK4 VAR_066288 p.Glu412Asp LB/B rs147202164 - BBS4 Q96RK4 VAR_066289 p.Thr488Lys LB/B 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 - 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 - Hypervalinemia and hyperleucine-isoleucinemia (HVLI) [MIM:618850] BCAT2 O15382 VAR_084534 p.Glu264Lys LP/P - 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 LP/P - 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] 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] 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.Phe111Leu 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 - 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 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 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_018162 p.Ser277Asn LP/P rs121908571 Mitochondrial complex III deficiency, nuclear 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 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 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 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 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_064616 p.Arg73Cys LP/P rs140812286 Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_064617 p.Arg183Cys LP/P rs144885874 Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_064618 p.Phe368Ile LP/P - Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_072243 p.Gly129Arg LP/P rs1057521059 Mitochondrial complex III deficiency, nuclear 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 LP/P rs8192466 Congenital central hypoventilation syndrome (CCHS) [MIM:209880] 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 LP/P 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 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 - 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 LB/B rs1805142 - 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 LB/B 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 LB/B rs281865241 - 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, autosomal dominant (ADVIRC) [MIM:193220] BEST1 O76090 VAR_058275 p.Tyr236Cys LP/P rs121918291 Vitreoretinochoroidopathy, autosomal dominant (ADVIRC) [MIM:193220] BEST1 O76090 VAR_058276 p.Val239Met LP/P rs121918290 Vitreoretinochoroidopathy, autosomal dominant (ADVIRC) [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] 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] BHLHB9 Q6PI77 VAR_049266 p.Ser132Gly LB/B rs2179675 - BHLHB9 Q6PI77 VAR_049267 p.Cys318Arg LB/B rs4514179 - 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 - 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 - 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 LP/P - - 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 - 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 - 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 - 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, Demirhan type (AMDD) [MIM:609441] BMPR1B O00238 VAR_075521 p.Cys53Arg LP/P rs863225041 Acromesomelic dysplasia, Demirhan type (AMDD) [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.Val228Met LB/B rs4911290 - BPIFB3 P59826 VAR_049743 p.Thr290Met LB/B rs2093066 - BPIFB3 P59826 VAR_049744 p.His334Gln LB/B rs6057717 - BPIFB3 P59826 VAR_049745 p.Tyr369Cys LB/B rs6059063 - BPIFB3 P59826 VAR_049746 p.Pro449Ser 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] BRAWNIN Q69YU5 VAR_062284 p.Arg45Cys LB/B rs2293624 - 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 LB/B rs80356862 - BRCA1 P38398 VAR_063902 p.Thr1685Ala US rs80356890 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063903 p.Thr1685Ile LB/B rs80357043 - 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.Ala2466Val LB/B rs169547 - 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_008790 p.Arg2787His US rs80359078 Ovarian cancer 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 - 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 rs414349 - 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 - BRWD3 Q6RI45 VAR_031491 p.Lys1288Arg LB/B rs3122407 - BRWD3 Q6RI45 VAR_036940 p.Lys1596Glu US rs137853272 Mental retardation, X-linked 93 (MRX93) [MIM:300659] BSCL2 Q96G97 VAR_022375 p.Asn88Ser LP/P rs137852972 Neuronopathy, distal hereditary motor, 5C (HMN5C) [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, 5C (HMN5C) [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 - - BSG P35613 VAR_084547 p.Thr16Ala LB/B - - BSG P35613 VAR_084548 p.Val26Phe LB/B - - 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 - BTBD11 A6QL63 VAR_042534 p.Ala1002Asp LB/B rs11610050 - BTBD11 A6QL63 VAR_042535 p.Gly1076Ser LB/B rs12303478 - BTBD11 A6QL63 VAR_055560 p.Gly448Ser LB/B rs1558781 - 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 - 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 - 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 - C10orf113 Q5VZT2 VAR_028801 p.Asp110His LB/B rs625223 - C10orf113 Q5VZT2 VAR_050858 p.Arg72Gly LB/B rs11591355 - 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 - C10orf82 Q8WW14 VAR_050854 p.Thr124Met LB/B rs11551267 - 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 - C11orf1 Q9H5F2 VAR_050861 p.Lys49Gln LB/B rs11540721 - C11orf1 Q9H5F2 VAR_050862 p.Gln85His LB/B rs3180820 - C11orf1 Q9H5F2 VAR_054163 p.Val40Ala LB/B rs9280 - 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 - C11orf72 Q8NBR9 VAR_029584 p.Pro22Thr LB/B rs12421329 - C11orf94 C9JXX5 VAR_063154 p.Gln80His LB/B rs2271849 - 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 - C12orf29 Q8N999 VAR_035197 p.Pro23Leu LB/B rs11541954 - C12orf29 Q8N999 VAR_035198 p.Val238Leu LB/B rs9262 - C12orf4 Q9NQ89 VAR_081778 p.Leu328Pro LP/P rs1468772495 Mental retardation, autosomal recessive 66 (MRT66) [MIM:618221] C12orf40 Q86WS4 VAR_061610 p.Ile13Leu LB/B rs58302581 - 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 - C14orf177 Q52M58 VAR_030224 p.Arg3Trp LB/B rs17097718 - C14orf177 Q52M58 VAR_030225 p.Val33Ala LB/B rs4905757 - 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 - C15orf54 Q8N8G6 VAR_044189 p.Thr59Met LB/B rs11853050 - C15orf54 Q8N8G6 VAR_044190 p.Glu77Lys LB/B rs16968547 - 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 - C16orf72 Q14CZ0 VAR_034657 p.Asn221Ser LB/B rs34869458 - 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.Ile92Val LB/B rs9891146 - C17orf77 Q96MU5 VAR_029628 p.Arg47Ser LB/B rs493430 - C17orf78 Q8N4C9 VAR_034877 p.Thr152Ser LB/B rs1714987 - C17orf80 Q9BSJ5 VAR_031779 p.Gly226Ser LB/B rs9902726 - C17orf80 Q9BSJ5 VAR_031780 p.Lys322Gln LB/B rs34784472 - C17orf80 Q9BSJ5 VAR_031781 p.Phe356Leu LB/B rs745143 - C17orf80 Q9BSJ5 VAR_031782 p.His395Asn LB/B rs904384 - C17orf80 Q9BSJ5 VAR_031783 p.Cys396Arg LB/B rs904383 - C17orf80 Q9BSJ5 VAR_031784 p.Gln420His LB/B rs745142 - C17orf80 Q9BSJ5 VAR_031785 p.Ala522Thr LB/B rs1566286 - C17orf98 A8MV24 VAR_044022 p.Pro61Leu LB/B rs7210156 - C17orf99 Q6UX52 VAR_067466 p.Trp101Arg LB/B rs4789017 - 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 - C19orf48 Q6RUI8 VAR_029852 p.Val7Ile LB/B rs7251816 - C19orf48 Q6RUI8 VAR_029853 p.Arg84Cys LB/B rs4802741 - C19orf48 Q6RUI8 VAR_029854 p.Gly104Glu LB/B rs4801853 - C19orf53 Q9UNZ5 VAR_053783 p.Lys39Arg LB/B rs10104 - C19orf71 A6NCJ1 VAR_061253 p.Pro83Leu LB/B rs12608919 - C19orf71 A6NCJ1 VAR_061254 p.Ala137Val LB/B rs6510758 - 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 - C1orf105 O95561 VAR_027710 p.Met97Val LB/B rs16844498 - C1orf105 O95561 VAR_027711 p.Ser137Asn LB/B rs1129942 - C1orf112 Q9NSG2 VAR_030906 p.Ala481Ser LB/B rs2272920 - 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 - C1orf147 Q96MC9 VAR_027074 p.Gly213Ala LB/B rs2336940 - C1orf147 Q96MC9 VAR_027075 p.Pro233Ser LB/B rs11118256 - C1orf147 Q96MC9 VAR_027076 p.Thr259Met LB/B rs17024805 - C1orf158 Q8N1D5 VAR_027091 p.Phe191Leu LB/B rs1132185 - C1orf162 Q8NEQ5 VAR_035106 p.Gly3Ser LB/B rs6703267 - C1orf167 Q5SNV9 VAR_035266 p.Pro453Ser LB/B rs6668699 - C1orf167 Q5SNV9 VAR_035267 p.Arg544Gln LB/B rs4845880 - C1orf167 Q5SNV9 VAR_035268 p.Arg602Trp LB/B rs6667720 - C1orf167 Q5SNV9 VAR_035269 p.Trp782Arg LB/B rs6699881 - C1orf167 Q5SNV9 VAR_035270 p.Arg800Cys LB/B rs7538516 - C1orf167 Q5SNV9 VAR_035271 p.Ser848Ile LB/B rs6697244 - C1orf167 Q5SNV9 VAR_035272 p.Arg944His LB/B rs4846043 - C1orf167 Q5SNV9 VAR_035273 p.Trp955Arg LB/B rs4846044 - C1orf167 Q5SNV9 VAR_035274 p.Arg1215His LB/B rs3737967 - C1orf167 Q5SNV9 VAR_035275 p.Cys1295Ser LB/B rs1537514 - C1orf167 Q5SNV9 VAR_035276 p.Arg1451Gly 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 - C1orf194 Q5T5A4 VAR_082033 p.Lys28Ile LB/B rs1553246861 - C1orf194 Q5T5A4 VAR_082034 p.Ile122Asn LP/P rs1553246716 - 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 - Complement component C1q deficiency (C1QD) [MIM:613652] 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 Complement component C1q deficiency (C1QD) [MIM:613652] 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 - C20orf85 Q9H1P6 VAR_033759 p.Arg26His LB/B rs16984945 - C20orf85 Q9H1P6 VAR_033760 p.Ile99Val LB/B rs17440813 - C20orf85 Q9H1P6 VAR_061632 p.Arg34Gln LB/B rs45576936 - 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 C2orf16 Q68DN1 VAR_031313 p.Arg357Gly LB/B rs17006143 - C2orf16 Q68DN1 VAR_031314 p.Asp505Val LB/B rs13410886 - C2orf16 Q68DN1 VAR_031315 p.Thr655Ser LB/B rs1919125 - C2orf16 Q68DN1 VAR_031316 p.Ala660Glu LB/B rs1919126 - C2orf16 Q68DN1 VAR_031317 p.Val685Ala LB/B rs1919127 - C2orf16 Q68DN1 VAR_031318 p.Ile767Thr LB/B rs13416968 - C2orf16 Q68DN1 VAR_031319 p.Ile774Val LB/B rs1919128 - C2orf16 Q68DN1 VAR_031320 p.Ser1500Phe LB/B rs12618071 - C2orf16 Q68DN1 VAR_031321 p.His1559Tyr LB/B rs13392197 - C2orf16 Q68DN1 VAR_031322 p.Asn1613Ser LB/B rs13031957 - C2orf16 Q68DN1 VAR_031323 p.Ser1665Pro LB/B rs28381983 - 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 - - 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 rs9296005 - C4A P0C0L4 VAR_069155 p.Val418Ala LB/B - - C4A P0C0L4 VAR_069156 p.His549Pro LB/B rs2229405 - 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 - C4orf45 Q96LM5 VAR_039901 p.Ala46Val LB/B rs17037864 - C4orf45 Q96LM5 VAR_039902 p.Ser75Gly LB/B rs662473 - C4orf45 Q96LM5 VAR_039903 p.Tyr84Cys LB/B rs17037858 - C4orf45 Q96LM5 VAR_039904 p.Gly93Glu LB/B rs619128 - C4orf45 Q96LM5 VAR_039905 p.Arg134His LB/B rs10517695 - 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 C5orf34 Q96MH7 VAR_061589 p.Thr32Ser LB/B rs6872851 - C5orf46 Q6UWT4 VAR_056787 p.Phe18Ile LB/B rs7722926 - C5orf49 A4QMS7 VAR_043546 p.Gln68His LB/B rs6883562 - C5orf49 A4QMS7 VAR_043547 p.Glu87Lys LB/B rs16879215 - C5orf49 A4QMS7 VAR_043548 p.Pro139Ser LB/B rs326181 - C5orf51 A6NDU8 VAR_044032 p.Gln20His LB/B rs12520325 - C5orf60 A6NFR6 VAR_044323 p.Arg55Cys LB/B rs1319931 - C5orf60 A6NFR6 VAR_044324 p.Leu56Pro LB/B rs13168357 - C5orf64 Q2M2E5 VAR_043940 p.Ala57Thr LB/B rs16893687 - C5orf64 Q2M2E5 VAR_043941 p.Arg101Trp LB/B rs436696 - 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 - C6orf201 Q7Z4U5 VAR_056805 p.Arg20Pro LB/B rs619483 - C6orf201 Q7Z4U5 VAR_056806 p.Asp25Tyr LB/B rs9503910 - C6orf201 Q7Z4U5 VAR_064769 p.Asn117Lys LB/B rs643232 - C6orf223 Q8N319 VAR_050816 p.Lys48Glu LB/B rs2295333 - C6orf223 Q8N319 VAR_061592 p.Val107Met LB/B rs60336135 - 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 - C7orf26 Q96N11 VAR_061593 p.Arg245Cys LB/B rs35534502 - C7orf31 Q8N865 VAR_022781 p.Tyr82Cys LB/B rs2717858 - C7orf31 Q8N865 VAR_022782 p.Ala158Thr LB/B rs12535348 - C7orf31 Q8N865 VAR_022783 p.Thr187Ser LB/B rs2523072 - C7orf31 Q8N865 VAR_022784 p.His300Arg LB/B rs2285738 - C7orf31 Q8N865 VAR_056809 p.Glu13Lys LB/B rs11980216 - C7orf31 Q8N865 VAR_056810 p.Arg86Cys LB/B rs3213642 - C7orf31 Q8N865 VAR_056811 p.Pro238Gln LB/B rs11984293 - C7orf31 Q8N865 VAR_056812 p.Ala249Thr LB/B rs17150982 - C7orf31 Q8N865 VAR_060608 p.Pro143Gln LB/B rs17855102 - C7orf31 Q8N865 VAR_060609 p.Asn518Asp LB/B rs17857512 - 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.Arg117Gly 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 - C8orf37 Q96NL8 VAR_033683 p.Pro19Ala LB/B rs36096184 - C8orf37 Q96NL8 VAR_067305 p.Arg177Trp LP/P rs387907136 Bardet-Biedl syndrome 21 (BBS21) [MIM:617406] C8orf37 Q96NL8 VAR_067305 p.Arg177Trp LP/P rs387907136 Cone-rod dystrophy 16 (CORD16) [MIM:614500] C8orf37 Q96NL8 VAR_067306 p.Gln182Arg LP/P rs387907137 Retinitis pigmentosa 64 (RP64) [MIM:614500] 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 - C8orf86 Q6ZUL3 VAR_046186 p.Arg81His LB/B rs1378332 - 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] C9orf129 Q5T035 VAR_061600 p.Arg191His LB/B rs36081907 - C9orf131 Q5VYM1 VAR_047239 p.Trp222Leu LB/B rs615474 - C9orf131 Q5VYM1 VAR_047240 p.Leu285Phe LB/B rs10117097 - C9orf131 Q5VYM1 VAR_047241 p.Leu437Val LB/B rs35523761 - C9orf131 Q5VYM1 VAR_047242 p.Ser623Thr LB/B rs2298312 - C9orf131 Q5VYM1 VAR_047243 p.Pro916Ser LB/B rs3739871 - 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, mental retardation, and dysequilibrium syndrome 3 (CMARQ3) [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] 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] 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 LP/P - - CACNA1D Q01668 VAR_079532 p.Gly407Arg LP/P rs1163276899 - CACNA1D Q01668 VAR_079533 p.Ala749Gly LP/P - - 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 - 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 - 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 LP/P rs119454947 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045936 p.Glu282Lys LP/P rs119454948 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045937 p.Met313Val LB/B rs36117280 - CACNA1H O95180 VAR_045938 p.Cys456Ser LP/P - 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 LP/P 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 LP/P rs373764821 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045945 p.Ala748Val LP/P rs770371468 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045946 p.Gly773Asp LP/P rs267606697 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045947 p.Gly784Ser LP/P 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 LP/P rs119454949 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045951 p.Gly848Ser LP/P rs374272094 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045952 p.Asp1463Asn LP/P 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 LP/P rs60734921 Epilepsy, idiopathic generalized 6 (EIG6) [MIM:611942] CACNA1H O95180 VAR_066987 p.Gly755Asp LP/P 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 LP/P 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 - 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] CACNA2D1 P54289 VAR_035047 p.Asp1057Ala LB/B rs35131433 - CACNA2D1 P54289 VAR_053960 p.Glu1019Asp LB/B rs9886043 - 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] 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 - Mental retardation, 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 - 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.Pro447Leu 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.Asn8Tyr 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 rs730882252 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 Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080580 p.Glu109Asp LP/P - Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080581 p.Ala112Val US - Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080582 p.Pro138Ala US - Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080583 p.Glu183Val LP/P rs1554122129 Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080584 p.Pro212Leu US rs926027867 Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080585 p.Pro235Leu US rs864309606 Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080586 p.His282Arg LP/P rs1554121875 Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080587 p.Thr286Pro LP/P rs1554121872 Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_081160 p.Pro212Gln LP/P - Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_081161 p.His466Tyr LP/P rs1554119274 Mental retardation, 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 Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B Q13554 VAR_080590 p.Pro139Leu LP/P rs1554389088 Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B Q13554 VAR_080591 p.Glu237Lys LP/P rs1554386687 Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B Q13554 VAR_080592 p.Lys301Glu LP/P rs1554385111 Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B Q13554 VAR_081162 p.Pro213Leu LP/P rs1554387293 Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B Q13554 VAR_081163 p.Arg284Ser LP/P rs1554385203 Mental retardation, 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 - 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 - 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.Leu125Phe 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 - 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 US rs747854314 - CARD14 Q9BXL6 VAR_078592 p.Met338Val US 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 Candidiasis, familial, 2 (CANDF2) [MIM:212050] CARD9 Q9H257 VAR_070829 p.Arg101Cys LP/P rs398122364 Candidiasis, familial, 2 (CANDF2) [MIM:212050] CARD9 Q9H257 VAR_070830 p.Arg373Pro LP/P rs149712114 Candidiasis, familial, 2 (CANDF2) [MIM:212050] CARD9 Q9H257 VAR_084630 p.Arg18Trp LP/P - Candidiasis, familial, 2 (CANDF2) [MIM:212050] CARD9 Q9H257 VAR_084632 p.Arg35Gln LP/P - Candidiasis, familial, 2 (CANDF2) [MIM:212050] CARD9 Q9H257 VAR_084633 p.Arg57His LP/P - Candidiasis, familial, 2 (CANDF2) [MIM:212050] CARD9 Q9H257 VAR_084634 p.Arg70Trp LP/P - Candidiasis, familial, 2 (CANDF2) [MIM:212050] CARD9 Q9H257 VAR_084635 p.Tyr91His LP/P - Candidiasis, familial, 2 (CANDF2) [MIM:212050] CARD9 Q9H257 VAR_084636 p.Arg101Leu LP/P - Candidiasis, familial, 2 (CANDF2) [MIM:212050] CARD9 Q9H257 VAR_084638 p.Lys196Glu LP/P - Candidiasis, familial, 2 (CANDF2) [MIM:212050] CARD9 Q9H257 VAR_084642 p.Ala380Pro LP/P - Candidiasis, familial, 2 (CANDF2) [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 Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] CASK O14936 VAR_062997 p.Pro396Ser LP/P rs137852820 Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] CASK O14936 VAR_062998 p.Asp710Gly LP/P rs137852818 Mental retardation and microcephaly with 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 P411