Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21576515T>GCA2695499772ALPLc.1190-7T>G (n.1190-7T>G)
n.459-7T>G
c.265-7T>G
c.959-7T>G (n.959-7T>G)
c.1025-7T>G (n.1025-7T>G)
c.1034-7T>G (n.1034-7T>G)
 dbSNP
1g.21576516G>ACA2742753768ALPLc.1190-6G>A (n.1190-6G>A)
n.459-6G>A
c.265-6G>A
c.959-6G>A (n.959-6G>A)
c.1025-6G>A (n.1025-6G>A)
c.1034-6G>A (n.1034-6G>A)
1g.21576517T>GCA2643931889ALPLc.1190-5T>G (n.1190-5T>G)
n.459-5T>G
c.265-5T>G
c.959-5T>G (n.959-5T>G)
c.1025-5T>G (n.1025-5T>G)
c.1034-5T>G (n.1034-5T>G)
 gnomAD v4
1g.21576518G>ACA2574253200ALPLc.1190-4G>A (n.1190-4G>A)
n.459-4G>A
c.265-4G>A
c.959-4G>A (n.959-4G>A)
c.1025-4G>A (n.1025-4G>A)
c.1034-4G>A (n.1034-4G>A)
1g.21576519C>TCA2574253201ALPLc.1190-3C>T (n.1190-3C>T)
n.459-3C>T
c.265-3C>T
c.959-3C>T (n.959-3C>T)
c.1025-3C>T (n.1025-3C>T)
c.1034-3C>T (n.1034-3C>T)
 ClinVar gnomAD v4
1g.21576520A=CA1158019764ALPLc.1190-2A= (n.1190-2A=)
n.459-2A=
c.265-2A=
c.959-2A= (n.959-2A=)
c.1025-2A= (n.1025-2A=)
c.1034-2A= (n.1034-2A=)
1g.21576520A>CCA338881610ALPLc.1190-2A>C (n.1190-2A>C)
n.459-2A>C
c.265-2A>C
c.959-2A>C (n.959-2A>C)
c.1025-2A>C (n.1025-2A>C)
c.1034-2A>C (n.1034-2A>C)
1g.21576520A>GCA338881612ALPLc.1190-2A>G (n.1190-2A>G)
n.459-2A>G
c.265-2A>G
c.959-2A>G (n.959-2A>G)
c.1025-2A>G (n.1025-2A>G)
c.1034-2A>G (n.1034-2A>G)
1g.21576520A>TCA338881614ALPLc.1190-2A>T (n.1190-2A>T)
n.459-2A>T
c.265-2A>T
c.959-2A>T (n.959-2A>T)
c.1025-2A>T (n.1025-2A>T)
c.1034-2A>T (n.1034-2A>T)
 ClinVar dbSNP
1g.21576520_21576521delinsCTCA2586966220ALPLc.1190-2_1190-1delinsCT (n.1190-2_1190-1delinsCT)
n.459-2_459-1delinsCT
c.265-2_265-1delinsCT
c.959-2_959-1delinsCT (n.959-2_959-1delinsCT)
c.1025-2_1025-1delinsCT (n.1025-2_1025-1delinsCT)
c.1034-2_1034-1delinsCT (n.1034-2_1034-1delinsCT)
1g.21576521G>ACA338881616ALPLc.1190-1G>A (n.1190-1G>A)
n.459-1G>A
c.265-1G>A
c.959-1G>A (n.959-1G>A)
c.1025-1G>A (n.1025-1G>A)
c.1034-1G>A (n.1034-1G>A)
1g.21576521G>CCA338881617ALPLc.1190-1G>C (n.1190-1G>C)
n.459-1G>C
c.265-1G>C
c.959-1G>C (n.959-1G>C)
c.1025-1G>C (n.1025-1G>C)
c.1034-1G>C (n.1034-1G>C)
1g.21576521G>TCA338881619ALPLc.1190-1G>T (n.1190-1G>T)
n.459-1G>T
c.265-1G>T
c.959-1G>T (n.959-1G>T)
c.1025-1G>T (n.1025-1G>T)
c.1034-1G>T (n.1034-1G>T)
1g.21576522G>ACA338881624ALPLc.1190G>A (p.Gly397Asp)
n.459G>A
c.265G>A
c.959G>A (p.Gly320Asp)
c.1025G>A (p.Gly342Asp)
c.1034G>A (p.Gly345Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21576522G>CCA338881623ALPLc.1190G>C (p.Gly397Ala)
n.459G>C
c.265G>C
c.959G>C (p.Gly320Ala)
c.1025G>C (p.Gly342Ala)
c.1034G>C (p.Gly345Ala)
1g.21576522G=CA1158019765ALPLc.1190G= (p.Gly397=)
n.459G=
c.265G=
c.959G= (p.Gly320=)
c.1025G= (p.Gly342=)
c.1034G= (p.Gly345=)
1g.21576522G>TCA338881621ALPLc.1190G>T (p.Gly397Val)
n.459G>T
c.265G>T
c.959G>T (p.Gly320Val)
c.1025G>T (p.Gly342Val)
c.1034G>T (p.Gly345Val)
 ClinVar dbSNP gnomAD v4
1g.21576523T>ACA416533991ALPLc.1191T>A (p.Gly397=)
n.460T>A
c.266T>A
c.960T>A (p.Gly320=)
c.1026T>A (p.Gly342=)
c.1035T>A (p.Gly345=)
1g.21576523T>CCA416533989ALPLc.1191T>C (p.Gly397=)
n.460T>C
c.266T>C
c.960T>C (p.Gly320=)
c.1026T>C (p.Gly342=)
c.1035T>C (p.Gly345=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21576523T>GCA416533990ALPLc.1191T>G (p.Gly397=)
n.460T>G
c.266T>G
c.960T>G (p.Gly320=)
c.1026T>G (p.Gly342=)
c.1035T>G (p.Gly345=)
1g.21576523T=CA1158019766ALPLc.1191T= (p.Gly397=)
n.460T=
c.266T=
c.960T= (p.Gly320=)
c.1026T= (p.Gly342=)
c.1035T= (p.Gly345=)
1g.21576524C>ACA338881626ALPLc.1192C>A (p.Leu398Met)
n.461C>A
c.267C>A
c.961C>A (p.Leu321Met)
c.1027C>A (p.Leu343Met)
c.1036C>A (p.Leu346Met)
 COSMIC
1g.21576524C>GCA338881627ALPLc.1192C>G (p.Leu398Val)
n.461C>G
c.267C>G
c.961C>G (p.Leu321Val)
c.1027C>G (p.Leu343Val)
c.1036C>G (p.Leu346Val)
1g.21576524C>TCA416533992ALPLc.1192C>T (p.Leu398=)
n.461C>T
c.267C>T
c.961C>T (p.Leu321=)
c.1027C>T (p.Leu343=)
c.1036C>T (p.Leu346=)
 COSMIC
1g.21576525T>ACA338881629ALPLc.1193T>A (p.Leu398Gln)
n.462T>A
c.268T>A
c.962T>A (p.Leu321Gln)
c.1028T>A (p.Leu343Gln)
c.1037T>A (p.Leu346Gln)
1g.21576525T>CCA338881630ALPLc.1193T>C (p.Leu398Pro)
n.462T>C
c.268T>C
c.962T>C (p.Leu321Pro)
c.1028T>C (p.Leu343Pro)
c.1037T>C (p.Leu346Pro)
1g.21576525T>GCA338881631ALPLc.1193T>G (p.Leu398Arg)
n.462T>G
c.268T>G
c.962T>G (p.Leu321Arg)
c.1028T>G (p.Leu343Arg)
c.1037T>G (p.Leu346Arg)
1g.21576526G>ACA416533994ALPLc.1194G>A (p.Leu398=)
n.463G>A
c.269G>A
c.963G>A (p.Leu321=)
c.1029G>A (p.Leu343=)
c.1038G>A (p.Leu346=)
1g.21576526G>CCA416533995ALPLc.1194G>C (p.Leu398=)
n.463G>C
c.269G>C
c.963G>C (p.Leu321=)
c.1029G>C (p.Leu343=)
c.1038G>C (p.Leu346=)
1g.21576526G>TCA416533996ALPLc.1194G>T (p.Leu398=)
n.463G>T
c.269G>T
c.963G>T (p.Leu321=)
c.1029G>T (p.Leu343=)
c.1038G>T (p.Leu346=)
1g.21576527G>ACA338881633ALPLc.1195G>A (p.Ala399Thr)
n.464G>A
c.270G>A
c.964G>A (p.Ala322Thr)
c.1030G>A (p.Ala344Thr)
c.1039G>A (p.Ala347Thr)
1g.21576527G>CCA338881635ALPLc.1195G>C (p.Ala399Pro)
n.464G>C
c.270G>C
c.964G>C (p.Ala322Pro)
c.1030G>C (p.Ala344Pro)
c.1039G>C (p.Ala347Pro)
1g.21576527G>TCA338881636ALPLc.1195G>T (p.Ala399Ser)
n.464G>T
c.270G>T
c.964G>T (p.Ala322Ser)
c.1030G>T (p.Ala344Ser)
c.1039G>T (p.Ala347Ser)
 ClinVar dbSNP
1g.21576528C>ACA338881638ALPLc.1196C>A (p.Ala399Asp)
n.465C>A
c.271C>A
c.965C>A (p.Ala322Asp)
c.1031C>A (p.Ala344Asp)
c.1040C>A (p.Ala347Asp)
 dbSNP
1g.21576528C=CA1158019767ALPLc.1196C= (p.Ala399=)
n.465C=
c.271C=
c.965C= (p.Ala322=)
c.1031C= (p.Ala344=)
c.1040C= (p.Ala347=)
1g.21576528C>GCA338881639ALPLc.1196C>G (p.Ala399Gly)
n.465C>G
c.271C>G
c.965C>G (p.Ala322Gly)
c.1031C>G (p.Ala344Gly)
c.1040C>G (p.Ala347Gly)
1g.21576528C>TCA338881641ALPLc.1196C>T (p.Ala399Val)
n.465C>T
c.271C>T
c.965C>T (p.Ala322Val)
c.1031C>T (p.Ala344Val)
c.1040C>T (p.Ala347Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21576529C>ACA416533997ALPLc.1197C>A (p.Ala399=)
n.466C>A
c.272C>A
c.966C>A (p.Ala322=)
c.1032C>A (p.Ala344=)
c.1041C>A (p.Ala347=)
 dbSNP gnomAD v2 gnomAD v4
1g.21576529C=CA1158019768ALPLc.1197C= (p.Ala399=)
n.466C=
c.272C=
c.966C= (p.Ala322=)
c.1032C= (p.Ala344=)
c.1041C= (p.Ala347=)
1g.21576529C>GCA416533998ALPLc.1197C>G (p.Ala399=)
n.466C>G
c.272C>G
c.966C>G (p.Ala322=)
c.1032C>G (p.Ala344=)
c.1041C>G (p.Ala347=)
1g.21576529C>TCA666782ALPLc.1197C>T (p.Ala399=)
n.466C>T
c.272C>T
c.966C>T (p.Ala322=)
c.1032C>T (p.Ala344=)
c.1041C>T (p.Ala347=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21576530C>ACA338881643ALPLc.1198C>A (p.Pro400Thr)
n.467C>A
c.273C>A
c.967C>A (p.Pro323Thr)
c.1033C>A (p.Pro345Thr)
c.1042C>A (p.Pro348Thr)
 gnomAD v4
1g.21576530C>GCA338881645ALPLc.1198C>G (p.Pro400Ala)
n.467C>G
c.273C>G
c.967C>G (p.Pro323Ala)
c.1033C>G (p.Pro345Ala)
c.1042C>G (p.Pro348Ala)
1g.21576530C>TCA338881647ALPLc.1198C>T (p.Pro400Ser)
n.467C>T
c.273C>T
c.967C>T (p.Pro323Ser)
c.1033C>T (p.Pro345Ser)
c.1042C>T (p.Pro348Ser)
1g.21576530_21576531delinsTTCA645512758ALPLc.1198_1199delinsTT (p.Pro400Phe)
n.467_468delinsTT
c.273_274delinsTT
c.967_968delinsTT (p.Pro323Phe)
c.1033_1034delinsTT (p.Pro345Phe)
c.1042_1043delinsTT (p.Pro348Phe)
 COSMIC
1g.21576531C>ACA338881648ALPLc.1199C>A (p.Pro400His)
n.468C>A
c.274C>A
c.968C>A (p.Pro323His)
c.1034C>A (p.Pro345His)
c.1043C>A (p.Pro348His)
1g.21576531C>GCA338881651ALPLc.1199C>G (p.Pro400Arg)
n.468C>G
c.274C>G
c.968C>G (p.Pro323Arg)
c.1034C>G (p.Pro345Arg)
c.1043C>G (p.Pro348Arg)
1g.21576531C>TCA338881650ALPLc.1199C>T (p.Pro400Leu)
n.468C>T
c.274C>T
c.968C>T (p.Pro323Leu)
c.1034C>T (p.Pro345Leu)
c.1043C>T (p.Pro348Leu)
1g.21576532C>ACA416534002ALPLc.1200C>A (p.Pro400=)
n.469C>A
c.275C>A
c.969C>A (p.Pro323=)
c.1035C>A (p.Pro345=)
c.1044C>A (p.Pro348=)
 gnomAD v4
1g.21576532C>GCA416534001ALPLc.1200C>G (p.Pro400=)
n.469C>G
c.275C>G
c.969C>G (p.Pro323=)
c.1035C>G (p.Pro345=)
c.1044C>G (p.Pro348=)
1g.21576532C>TCA416534000ALPLc.1200C>T (p.Pro400=)
n.469C>T
c.275C>T
c.969C>T (p.Pro323=)
c.1035C>T (p.Pro345=)
c.1044C>T (p.Pro348=)
1g.21576533A=CA1158019769ALPLc.1201A= (p.Met401=)
n.470A=
c.276A=
c.970A= (p.Met324=)
c.1036A= (p.Met346=)
c.1045A= (p.Met349=)
1g.21576533A>CCA666783ALPLc.1201A>C (p.Met401Leu)
n.470A>C
c.276A>C
c.970A>C (p.Met324Leu)
c.1036A>C (p.Met346Leu)
c.1045A>C (p.Met349Leu)
 dbSNP ExAC gnomAD v2
1g.21576533A>GCA338881654ALPLc.1201A>G (p.Met401Val)
n.470A>G
c.276A>G
c.970A>G (p.Met324Val)
c.1036A>G (p.Met346Val)
c.1045A>G (p.Met349Val)
1g.21576533A>TCA338881655ALPLc.1201A>T (p.Met401Leu)
n.470A>T
c.276A>T
c.970A>T (p.Met324Leu)
c.1036A>T (p.Met346Leu)
c.1045A>T (p.Met349Leu)
1g.21576534T>ACA338881657ALPLc.1202T>A (p.Met401Lys)
n.471T>A
c.277T>A
c.971T>A (p.Met324Lys)
c.1037T>A (p.Met346Lys)
c.1046T>A (p.Met349Lys)
1g.21576534T>CCA338881658ALPLc.1202T>C (p.Met401Thr)
n.471T>C
c.277T>C
c.971T>C (p.Met324Thr)
c.1037T>C (p.Met346Thr)
c.1046T>C (p.Met349Thr)
1g.21576534T>GCA338881660ALPLc.1202T>G (p.Met401Arg)
n.471T>G
c.277T>G
c.971T>G (p.Met324Arg)
c.1037T>G (p.Met346Arg)
c.1046T>G (p.Met349Arg)
1g.21576535G>ACA338881662ALPLc.1203G>A (p.Met401Ile)
n.472G>A
c.278G>A
c.972G>A (p.Met324Ile)
c.1038G>A (p.Met346Ile)
c.1047G>A (p.Met349Ile)
1g.21576535G>CCA338881663ALPLc.1203G>C (p.Met401Ile)
n.472G>C
c.278G>C
c.972G>C (p.Met324Ile)
c.1038G>C (p.Met346Ile)
c.1047G>C (p.Met349Ile)
1g.21576535G>TCA338881665ALPLc.1203G>T (p.Met401Ile)
n.472G>T
c.278G>T
c.972G>T (p.Met324Ile)
c.1038G>T (p.Met346Ile)
c.1047G>T (p.Met349Ile)
1g.21576536C>ACA338881667ALPLc.1204C>A (p.Leu402Met)
n.473C>A
c.279C>A
c.973C>A (p.Leu325Met)
c.1039C>A (p.Leu347Met)
c.1048C>A (p.Leu350Met)
1g.21576536C=CA1158019770ALPLc.1204C= (p.Leu402=)
n.473C=
c.279C=
c.973C= (p.Leu325=)
c.1039C= (p.Leu347=)
c.1048C= (p.Leu350=)
1g.21576536C>GCA338881669ALPLc.1204C>G (p.Leu402Val)
n.473C>G
c.279C>G
c.973C>G (p.Leu325Val)
c.1039C>G (p.Leu347Val)
c.1048C>G (p.Leu350Val)
 dbSNP
1g.21576536C>TCA416534003ALPLc.1204C>T (p.Leu402=)
n.473C>T
c.279C>T
c.973C>T (p.Leu325=)
c.1039C>T (p.Leu347=)
c.1048C>T (p.Leu350=)
1g.21576537T>ACA338881674ALPLc.1205T>A (p.Leu402Gln)
n.474T>A
c.280T>A
c.974T>A (p.Leu325Gln)
c.1040T>A (p.Leu347Gln)
c.1049T>A (p.Leu350Gln)
1g.21576537T>CCA338881672ALPLc.1205T>C (p.Leu402Pro)
n.474T>C
c.280T>C
c.974T>C (p.Leu325Pro)
c.1040T>C (p.Leu347Pro)
c.1049T>C (p.Leu350Pro)
1g.21576537T>GCA338881671ALPLc.1205T>G (p.Leu402Arg)
n.474T>G
c.280T>G
c.974T>G (p.Leu325Arg)
c.1040T>G (p.Leu347Arg)
c.1049T>G (p.Leu350Arg)
1g.21576538G>ACA416534004ALPLc.1206G>A (p.Leu402=)
n.475G>A
c.281G>A
c.975G>A (p.Leu325=)
c.1041G>A (p.Leu347=)
c.1050G>A (p.Leu350=)
 gnomAD v4
1g.21576538G>CCA416534006ALPLc.1206G>C (p.Leu402=)
n.475G>C
c.281G>C
c.975G>C (p.Leu325=)
c.1041G>C (p.Leu347=)
c.1050G>C (p.Leu350=)
1g.21576538G>TCA416534005ALPLc.1206G>T (p.Leu402=)
n.475G>T
c.281G>T
c.975G>T (p.Leu325=)
c.1041G>T (p.Leu347=)
c.1050G>T (p.Leu350=)
1g.21576539A=CA1158019771ALPLc.1207A= (p.Ser403=)
n.476A=
c.282A=
c.976A= (p.Ser326=)
c.1042A= (p.Ser348=)
c.1051A= (p.Ser351=)
1g.21576539A>CCA338881678ALPLc.1207A>C (p.Ser403Arg)
n.476A>C
c.282A>C
c.976A>C (p.Ser326Arg)
c.1042A>C (p.Ser348Arg)
c.1051A>C (p.Ser351Arg)
1g.21576539A>GCA338881676ALPLc.1207A>G (p.Ser403Gly)
n.476A>G
c.282A>G
c.976A>G (p.Ser326Gly)
c.1042A>G (p.Ser348Gly)
c.1051A>G (p.Ser351Gly)
1g.21576539A>TCA338881677ALPLc.1207A>T (p.Ser403Cys)
n.476A>T
c.282A>T
c.976A>T (p.Ser326Cys)
c.1042A>T (p.Ser348Cys)
c.1051A>T (p.Ser351Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21576540G>ACA666784ALPLc.1208G>A (p.Ser403Asn)
n.477G>A
c.283G>A
c.977G>A (p.Ser326Asn)
c.1043G>A (p.Ser348Asn)
c.1052G>A (p.Ser351Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21576540G>CCA666785ALPLc.1208G>C (p.Ser403Thr)
n.477G>C
c.283G>C
c.977G>C (p.Ser326Thr)
c.1043G>C (p.Ser348Thr)
c.1052G>C (p.Ser351Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21576540G=CA1158019772ALPLc.1208G= (p.Ser403=)
n.477G=
c.283G=
c.977G= (p.Ser326=)
c.1043G= (p.Ser348=)
c.1052G= (p.Ser351=)
1g.21576540G>TCA338881682ALPLc.1208G>T (p.Ser403Ile)
n.477G>T
c.283G>T
c.977G>T (p.Ser326Ile)
c.1043G>T (p.Ser348Ile)
c.1052G>T (p.Ser351Ile)
1g.21576541T>ACA338881683ALPLc.1209T>A (p.Ser403Arg)
n.478T>A
c.284T>A
c.978T>A (p.Ser326Arg)
c.1044T>A (p.Ser348Arg)
c.1053T>A (p.Ser351Arg)
1g.21576541T>CCA416534007ALPLc.1209T>C (p.Ser403=)
n.478T>C
c.284T>C
c.978T>C (p.Ser326=)
c.1044T>C (p.Ser348=)
c.1053T>C (p.Ser351=)
1g.21576541T>GCA338881684ALPLc.1209T>G (p.Ser403Arg)
n.478T>G
c.284T>G
c.978T>G (p.Ser326Arg)
c.1044T>G (p.Ser348Arg)
c.1053T>G (p.Ser351Arg)
1g.21576542G>ACA338881686ALPLc.1210G>A (p.Asp404Asn)
n.479G>A
c.285G>A
c.979G>A (p.Asp327Asn)
c.1045G>A (p.Asp349Asn)
c.1054G>A (p.Asp352Asn)
1g.21576542G>CCA338881687ALPLc.1210G>C (p.Asp404His)
n.479G>C
c.285G>C
c.979G>C (p.Asp327His)
c.1045G>C (p.Asp349His)
c.1054G>C (p.Asp352His)
1g.21576542G>TCA338881688ALPLc.1210G>T (p.Asp404Tyr)
n.479G>T
c.285G>T
c.979G>T (p.Asp327Tyr)
c.1045G>T (p.Asp349Tyr)
c.1054G>T (p.Asp352Tyr)
1g.21576543A>CCA338881690ALPLc.1211A>C (p.Asp404Ala)
n.480A>C
c.286A>C
c.980A>C (p.Asp327Ala)
c.1046A>C (p.Asp349Ala)
c.1055A>C (p.Asp352Ala)
1g.21576543A>GCA338881691ALPLc.1211A>G (p.Asp404Gly)
n.480A>G
c.286A>G
c.980A>G (p.Asp327Gly)
c.1046A>G (p.Asp349Gly)
c.1055A>G (p.Asp352Gly)
1g.21576543A>TCA338881693ALPLc.1211A>T (p.Asp404Val)
n.480A>T
c.286A>T
c.980A>T (p.Asp327Val)
c.1046A>T (p.Asp349Val)
c.1055A>T (p.Asp352Val)
1g.21576546_21576547delCA1139655368ALPLc.1214_1215del (p.Thr405ArgfsTer22)
n.483_484del
c.289_290del
c.983_984del (p.Thr328ArgfsTer22)
c.1049_1050del (p.Thr350ArgfsTer22)
c.1058_1059del (p.Thr353ArgfsTer22)
 ClinVar
1g.21576544C>ACA338881696ALPLc.1212C>A (p.Asp404Glu)
n.481C>A
c.287C>A
c.981C>A (p.Asp327Glu)
c.1047C>A (p.Asp349Glu)
c.1056C>A (p.Asp352Glu)
1g.21576544C>GCA338881694ALPLc.1212C>G (p.Asp404Glu)
n.481C>G
c.287C>G
c.981C>G (p.Asp327Glu)
c.1047C>G (p.Asp349Glu)
c.1056C>G (p.Asp352Glu)
1g.21576544C>TCA416534008ALPLc.1212C>T (p.Asp404=)
n.481C>T
c.287C>T
c.981C>T (p.Asp327=)
c.1047C>T (p.Asp349=)
c.1056C>T (p.Asp352=)
 ClinVar dbSNP
1g.21576544_21576548delCA913072858ALPLc.1212_1216del (p.Asp404GlufsTer22)
n.481_485del
c.287_291del
c.981_985del (p.Asp327GlufsTer22)
c.1047_1051del (p.Asp349GlufsTer22)
c.1056_1060del (p.Asp352GlufsTer22)
1g.21576544_21576548delinsCACAGCA1158019773ALPLc.1212_1216delinsCACAG (p.Asp404=)
n.481_485delinsCACAG
c.287_291delinsCACAG
c.981_985delinsCACAG (p.Asp327=)
c.1047_1051delinsCACAG (p.Asp349=)
c.1056_1060delinsCACAG (p.Asp352=)
1g.21576545A>CCA338881698ALPLc.1213A>C (p.Thr405Pro)
n.482A>C
c.288A>C
c.982A>C (p.Thr328Pro)
c.1048A>C (p.Thr350Pro)
c.1057A>C (p.Thr353Pro)
1g.21576545A>GCA338881699ALPLc.1213A>G (p.Thr405Ala)
n.482A>G
c.288A>G
c.982A>G (p.Thr328Ala)
c.1048A>G (p.Thr350Ala)
c.1057A>G (p.Thr353Ala)
 gnomAD v4
1g.21576545A>TCA338881700ALPLc.1213A>T (p.Thr405Ser)
n.482A>T
c.288A>T
c.982A>T (p.Thr328Ser)
c.1048A>T (p.Thr350Ser)
c.1057A>T (p.Thr353Ser)
1g.21576548_21576551delCA658820993ALPLc.1216_1219del (p.Asp406ArgfsTer?)
n.485_488del
c.291_294del
c.985_988del (p.Asp329ArgfsTer?)
c.1051_1054del (p.Asp351ArgfsTer?)
c.1060_1063del (p.Asp354ArgfsTer?)
 ClinVar dbSNP
1g.21576546C>ACA338881701ALPLc.1214C>A (p.Thr405Lys)
n.483C>A
c.289C>A
c.983C>A (p.Thr328Lys)
c.1049C>A (p.Thr350Lys)
c.1058C>A (p.Thr353Lys)
1g.21576546C>GCA338881702ALPLc.1214C>G (p.Thr405Arg)
n.483C>G
c.289C>G
c.983C>G (p.Thr328Arg)
c.1049C>G (p.Thr350Arg)
c.1058C>G (p.Thr353Arg)
 ClinVar gnomAD v4
1g.21576546C>TCA338881703ALPLc.1214C>T (p.Thr405Ile)
n.483C>T
c.289C>T
c.983C>T (p.Thr328Ile)
c.1049C>T (p.Thr350Ile)
c.1058C>T (p.Thr353Ile)
1g.21576547A>CCA416534011ALPLc.1215A>C (p.Thr405=)
n.484A>C
c.290A>C
c.984A>C (p.Thr328=)
c.1050A>C (p.Thr350=)
c.1059A>C (p.Thr353=)
1g.21576547A>GCA416534009ALPLc.1215A>G (p.Thr405=)
n.484A>G
c.290A>G
c.984A>G (p.Thr328=)
c.1050A>G (p.Thr350=)
c.1059A>G (p.Thr353=)
1g.21576547A>TCA416534010ALPLc.1215A>T (p.Thr405=)
n.484A>T
c.290A>T
c.984A>T (p.Thr328=)
c.1050A>T (p.Thr350=)
c.1059A>T (p.Thr353=)
1g.21576548G>ACA338881704ALPLc.1216G>A (p.Asp406Asn)
n.485G>A
c.291G>A
c.985G>A (p.Asp329Asn)
c.1051G>A (p.Asp351Asn)
c.1060G>A (p.Asp354Asn)
 COSMIC
1g.21576548G>CCA338881705ALPLc.1216G>C (p.Asp406His)
n.485G>C
c.291G>C
c.985G>C (p.Asp329His)
c.1051G>C (p.Asp351His)
c.1060G>C (p.Asp354His)
1g.21576548G>TCA338881706ALPLc.1216G>T (p.Asp406Tyr)
n.485G>T
c.291G>T
c.985G>T (p.Asp329Tyr)
c.1051G>T (p.Asp351Tyr)
c.1060G>T (p.Asp354Tyr)
 gnomAD v4
1g.21576549A>CCA338881707ALPLc.1217A>C (p.Asp406Ala)
n.486A>C
c.292A>C
c.986A>C (p.Asp329Ala)
c.1052A>C (p.Asp351Ala)
c.1061A>C (p.Asp354Ala)
1g.21576549A>GCA338881708ALPLc.1217A>G (p.Asp406Gly)
n.486A>G
c.292A>G
c.986A>G (p.Asp329Gly)
c.1052A>G (p.Asp351Gly)
c.1061A>G (p.Asp354Gly)
 ClinVar
1g.21576549A>TCA338881709ALPLc.1217A>T (p.Asp406Val)
n.486A>T
c.292A>T
c.986A>T (p.Asp329Val)
c.1052A>T (p.Asp351Val)
c.1061A>T (p.Asp354Val)
1g.21576550C>ACA338881710ALPLc.1218C>A (p.Asp406Glu)
n.487C>A
c.293C>A
c.987C>A (p.Asp329Glu)
c.1053C>A (p.Asp351Glu)
c.1062C>A (p.Asp354Glu)
1g.21576550C>GCA338881711ALPLc.1218C>G (p.Asp406Glu)
n.487C>G
c.293C>G
c.987C>G (p.Asp329Glu)
c.1053C>G (p.Asp351Glu)
c.1062C>G (p.Asp354Glu)
1g.21576550C>TCA416534012ALPLc.1218C>T (p.Asp406=)
n.487C>T
c.293C>T
c.987C>T (p.Asp329=)
c.1053C>T (p.Asp351=)
c.1062C>T (p.Asp354=)
1g.21576551A=CA1158019774ALPLc.1219A= (p.Lys407=)
n.488A=
c.294A=
c.988A= (p.Lys330=)
c.1054A= (p.Lys352=)
c.1063A= (p.Lys355=)
1g.21576551A>CCA338881713ALPLc.1219A>C (p.Lys407Gln)
n.488A>C
c.294A>C
c.988A>C (p.Lys330Gln)
c.1054A>C (p.Lys352Gln)
c.1063A>C (p.Lys355Gln)
 gnomAD v4
1g.21576551A>GCA338881714ALPLc.1219A>G (p.Lys407Glu)
n.488A>G
c.294A>G
c.988A>G (p.Lys330Glu)
c.1054A>G (p.Lys352Glu)
c.1063A>G (p.Lys355Glu)
 dbSNP gnomAD v4
1g.21576551A>TCA338881712ALPLc.1219A>T (p.Lys407Ter)
n.488A>T
c.294A>T
c.988A>T (p.Lys330Ter)
c.1054A>T (p.Lys352Ter)
c.1063A>T (p.Lys355Ter)
1g.21576554_21576556delCA2643931890ALPLc.1222_1224del (p.Lys408del)
n.491_493del
c.297_299del
c.991_993del (p.Lys331del)
c.1057_1059del (p.Lys353del)
c.1066_1068del (p.Lys356del)
 gnomAD v4
1g.21576552A>CCA338881715ALPLc.1220A>C (p.Lys407Thr)
n.489A>C
c.295A>C
c.989A>C (p.Lys330Thr)
c.1055A>C (p.Lys352Thr)
c.1064A>C (p.Lys355Thr)
1g.21576552A>GCA338881717ALPLc.1220A>G (p.Lys407Arg)
n.489A>G
c.295A>G
c.989A>G (p.Lys330Arg)
c.1055A>G (p.Lys352Arg)
c.1064A>G (p.Lys355Arg)
 COSMIC
1g.21576552A>TCA338881716ALPLc.1220A>T (p.Lys407Met)
n.489A>T
c.295A>T
c.989A>T (p.Lys330Met)
c.1055A>T (p.Lys352Met)
c.1064A>T (p.Lys355Met)
1g.21576553G>ACA416534013ALPLc.1221G>A (p.Lys407=)
n.490G>A
c.296G>A
c.990G>A (p.Lys330=)
c.1056G>A (p.Lys352=)
c.1065G>A (p.Lys355=)
1g.21576553G>CCA338881718ALPLc.1221G>C (p.Lys407Asn)
n.490G>C
c.296G>C
c.990G>C (p.Lys330Asn)
c.1056G>C (p.Lys352Asn)
c.1065G>C (p.Lys355Asn)
 gnomAD v4
1g.21576553G>TCA338881719ALPLc.1221G>T (p.Lys407Asn)
n.490G>T
c.296G>T
c.990G>T (p.Lys330Asn)
c.1056G>T (p.Lys352Asn)
c.1065G>T (p.Lys355Asn)
1g.21576554A>CCA338881720ALPLc.1222A>C (p.Lys408Gln)
n.491A>C
c.297A>C
c.991A>C (p.Lys331Gln)
c.1057A>C (p.Lys353Gln)
c.1066A>C (p.Lys356Gln)
1g.21576554A>GCA338881721ALPLc.1222A>G (p.Lys408Glu)
n.491A>G
c.297A>G
c.991A>G (p.Lys331Glu)
c.1057A>G (p.Lys353Glu)
c.1066A>G (p.Lys356Glu)
1g.21576554A>TCA338881722ALPLc.1222A>T (p.Lys408Ter)
n.491A>T
c.297A>T
c.991A>T (p.Lys331Ter)
c.1057A>T (p.Lys353Ter)
c.1066A>T (p.Lys356Ter)
1g.21576555A>CCA338881723ALPLc.1223A>C (p.Lys408Thr)
n.492A>C
c.298A>C
c.992A>C (p.Lys331Thr)
c.1058A>C (p.Lys353Thr)
c.1067A>C (p.Lys356Thr)
1g.21576555A>GCA338881724ALPLc.1223A>G (p.Lys408Arg)
n.492A>G
c.298A>G
c.992A>G (p.Lys331Arg)
c.1058A>G (p.Lys353Arg)
c.1067A>G (p.Lys356Arg)
1g.21576555A>TCA338881725ALPLc.1223A>T (p.Lys408Met)
n.492A>T
c.298A>T
c.992A>T (p.Lys331Met)
c.1058A>T (p.Lys353Met)
c.1067A>T (p.Lys356Met)
1g.21576556G>ACA416534014ALPLc.1224G>A (p.Lys408=)
n.493G>A
c.299G>A
c.993G>A (p.Lys331=)
c.1059G>A (p.Lys353=)
c.1068G>A (p.Lys356=)
 ClinVar dbSNP gnomAD v4
1g.21576556G>CCA338881726ALPLc.1224G>C (p.Lys408Asn)
n.493G>C
c.299G>C
c.993G>C (p.Lys331Asn)
c.1059G>C (p.Lys353Asn)
c.1068G>C (p.Lys356Asn)
1g.21576556G=CA1158019775ALPLc.1224G= (p.Lys408=)
n.493G=
c.299G=
c.993G= (p.Lys331=)
c.1059G= (p.Lys353=)
c.1068G= (p.Lys356=)
1g.21576556G>TCA338881727ALPLc.1224G>T (p.Lys408Asn)
n.493G>T
c.299G>T
c.993G>T (p.Lys331Asn)
c.1059G>T (p.Lys353Asn)
c.1068G>T (p.Lys356Asn)
 dbSNP
1g.21576557C>ACA338881728ALPLc.1225C>A (p.Pro409Thr)
n.494C>A
c.300C>A
c.994C>A (p.Pro332Thr)
c.1060C>A (p.Pro354Thr)
c.1069C>A (p.Pro357Thr)
1g.21576557C>GCA338881729ALPLc.1225C>G (p.Pro409Ala)
n.494C>G
c.300C>G
c.994C>G (p.Pro332Ala)
c.1060C>G (p.Pro354Ala)
c.1069C>G (p.Pro357Ala)
 ClinVar
1g.21576557C>TCA338881730ALPLc.1225C>T (p.Pro409Ser)
n.494C>T
c.300C>T
c.994C>T (p.Pro332Ser)
c.1060C>T (p.Pro354Ser)
c.1069C>T (p.Pro357Ser)
 ClinVar
1g.21576558C>ACA338881731ALPLc.1226C>A (p.Pro409His)
n.495C>A
c.301C>A
c.995C>A (p.Pro332His)
c.1061C>A (p.Pro354His)
c.1070C>A (p.Pro357His)
1g.21576558C>GCA338881733ALPLc.1226C>G (p.Pro409Arg)
n.495C>G
c.301C>G
c.995C>G (p.Pro332Arg)
c.1061C>G (p.Pro354Arg)
c.1070C>G (p.Pro357Arg)
1g.21576558C>TCA338881732ALPLc.1226C>T (p.Pro409Leu)
n.495C>T
c.301C>T
c.995C>T (p.Pro332Leu)
c.1061C>T (p.Pro354Leu)
c.1070C>T (p.Pro357Leu)
 ClinVar
1g.21576559C>ACA416534016ALPLc.1227C>A (p.Pro409=)
n.496C>A
c.302C>A
c.996C>A (p.Pro332=)
c.1062C>A (p.Pro354=)
c.1071C>A (p.Pro357=)
1g.21576559C=CA1158019776ALPLc.1227C= (p.Pro409=)
n.496C=
c.302C=
c.996C= (p.Pro332=)
c.1062C= (p.Pro354=)
c.1071C= (p.Pro357=)
1g.21576559C>GCA416534015ALPLc.1227C>G (p.Pro409=)
n.496C>G
c.302C>G
c.996C>G (p.Pro332=)
c.1062C>G (p.Pro354=)
c.1071C>G (p.Pro357=)
 ClinVar
1g.21576559C>TCA666786ALPLc.1227C>T (p.Pro409=)
n.496C>T
c.302C>T
c.996C>T (p.Pro332=)
c.1062C>T (p.Pro354=)
c.1071C>T (p.Pro357=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
1g.21576560T>ACA338881734ALPLc.1228T>A (p.Phe410Ile)
n.497T>A
c.303T>A
c.997T>A (p.Phe333Ile)
c.1063T>A (p.Phe355Ile)
c.1072T>A (p.Phe358Ile)
1g.21576560T>CCA338881735ALPLc.1228T>C (p.Phe410Leu)
n.497T>C
c.303T>C
c.997T>C (p.Phe333Leu)
c.1063T>C (p.Phe355Leu)
c.1072T>C (p.Phe358Leu)
 ClinVar dbSNP
1g.21576560T>GCA338881736ALPLc.1228T>G (p.Phe410Val)
n.497T>G
c.303T>G
c.997T>G (p.Phe333Val)
c.1063T>G (p.Phe355Val)
c.1072T>G (p.Phe358Val)
1g.21576560T=CA1158019777ALPLc.1228T= (p.Phe410=)
n.497T=
c.303T=
c.997T= (p.Phe333=)
c.1063T= (p.Phe355=)
c.1072T= (p.Phe358=)
1g.21576561T>ACA338881737ALPLc.1229T>A (p.Phe410Tyr)
n.498T>A
c.304T>A
c.998T>A (p.Phe333Tyr)
c.1064T>A (p.Phe355Tyr)
c.1073T>A (p.Phe358Tyr)
1g.21576561T>CCA338881738ALPLc.1229T>C (p.Phe410Ser)
n.498T>C
c.304T>C
c.998T>C (p.Phe333Ser)
c.1064T>C (p.Phe355Ser)
c.1073T>C (p.Phe358Ser)
1g.21576561T>GCA338881739ALPLc.1229T>G (p.Phe410Cys)
n.498T>G
c.304T>G
c.998T>G (p.Phe333Cys)
c.1064T>G (p.Phe355Cys)
c.1073T>G (p.Phe358Cys)
1g.21576562C>ACA338881740ALPLc.1230C>A (p.Phe410Leu)
n.499C>A
c.305C>A
c.999C>A (p.Phe333Leu)
c.1065C>A (p.Phe355Leu)
c.1074C>A (p.Phe358Leu)
1g.21576562C>GCA338881741ALPLc.1230C>G (p.Phe410Leu)
n.499C>G
c.305C>G
c.999C>G (p.Phe333Leu)
c.1065C>G (p.Phe355Leu)
c.1074C>G (p.Phe358Leu)
1g.21576562C>TCA416534017ALPLc.1230C>T (p.Phe410=)
n.499C>T
c.305C>T
c.999C>T (p.Phe333=)
c.1065C>T (p.Phe355=)
c.1074C>T (p.Phe358=)
 gnomAD v4
1g.21576563A>CCA338881744ALPLc.1231A>C (p.Thr411Pro)
n.500A>C
c.306A>C
c.1000A>C (p.Thr334Pro)
c.1066A>C (p.Thr356Pro)
c.1075A>C (p.Thr359Pro)
1g.21576563A>GCA338881743ALPLc.1231A>G (p.Thr411Ala)
n.500A>G
c.306A>G
c.1000A>G (p.Thr334Ala)
c.1066A>G (p.Thr356Ala)
c.1075A>G (p.Thr359Ala)
 ClinVar dbSNP
1g.21576563A>TCA338881742ALPLc.1231A>T (p.Thr411Ser)
n.500A>T
c.306A>T
c.1000A>T (p.Thr334Ser)
c.1066A>T (p.Thr356Ser)
c.1075A>T (p.Thr359Ser)
1g.21576564C>ACA338881745ALPLc.1232C>A (p.Thr411Asn)
n.501C>A
c.307C>A
c.1001C>A (p.Thr334Asn)
c.1067C>A (p.Thr356Asn)
c.1076C>A (p.Thr359Asn)
1g.21576564C>GCA338881746ALPLc.1232C>G (p.Thr411Ser)
n.501C>G
c.307C>G
c.1001C>G (p.Thr334Ser)
c.1067C>G (p.Thr356Ser)
c.1076C>G (p.Thr359Ser)
1g.21576564C>TCA338881747ALPLc.1232C>T (p.Thr411Ile)
n.501C>T
c.307C>T
c.1001C>T (p.Thr334Ile)
c.1067C>T (p.Thr356Ile)
c.1076C>T (p.Thr359Ile)
 ClinVar dbSNP
1g.21576565T>ACA416534019ALPLc.1233T>A (p.Thr411=)
n.502T>A
c.308T>A
c.1002T>A (p.Thr334=)
c.1068T>A (p.Thr356=)
c.1077T>A (p.Thr359=)
1g.21576565T>CCA666787ALPLc.1233T>C (p.Thr411=)
n.502T>C
c.308T>C
c.1002T>C (p.Thr334=)
c.1068T>C (p.Thr356=)
c.1077T>C (p.Thr359=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21576565T>GCA416534018ALPLc.1233T>G (p.Thr411=)
n.502T>G
c.308T>G
c.1002T>G (p.Thr334=)
c.1068T>G (p.Thr356=)
c.1077T>G (p.Thr359=)
 ClinVar dbSNP
1g.21576565T=CA1158019778ALPLc.1233T= (p.Thr411=)
n.502T=
c.308T=
c.1002T= (p.Thr334=)
c.1068T= (p.Thr356=)
c.1077T= (p.Thr359=)
1g.21576566G>ACA338881748ALPLc.1234G>A (p.Ala412Thr)
n.503G>A
c.309G>A
c.1003G>A (p.Ala335Thr)
c.1069G>A (p.Ala357Thr)
c.1078G>A (p.Ala360Thr)
1g.21576566G>CCA338881749ALPLc.1234G>C (p.Ala412Pro)
n.503G>C
c.309G>C
c.1003G>C (p.Ala335Pro)
c.1069G>C (p.Ala357Pro)
c.1078G>C (p.Ala360Pro)
1g.21576566G=CA1158019779ALPLc.1234G= (p.Ala412=)
n.503G=
c.309G=
c.1003G= (p.Ala335=)
c.1069G= (p.Ala357=)
c.1078G= (p.Ala360=)
1g.21576566G>TCA666788ALPLc.1234G>T (p.Ala412Ser)
n.503G>T
c.309G>T
c.1003G>T (p.Ala335Ser)
c.1069G>T (p.Ala357Ser)
c.1078G>T (p.Ala360Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21576567C>ACA338881750ALPLc.1235C>A (p.Ala412Asp)
n.504C>A
c.310C>A
c.1004C>A (p.Ala335Asp)
c.1070C>A (p.Ala357Asp)
c.1079C>A (p.Ala360Asp)
1g.21576567C>GCA338881751ALPLc.1235C>G (p.Ala412Gly)
n.504C>G
c.310C>G
c.1004C>G (p.Ala335Gly)
c.1070C>G (p.Ala357Gly)
c.1079C>G (p.Ala360Gly)
1g.21576567C>TCA338881752ALPLc.1235C>T (p.Ala412Val)
n.504C>T
c.310C>T
c.1004C>T (p.Ala335Val)
c.1070C>T (p.Ala357Val)
c.1079C>T (p.Ala360Val)
 gnomAD v4
1g.21576568C>ACA416534020ALPLc.1236C>A (p.Ala412=)
n.505C>A
c.311C>A
c.1005C>A (p.Ala335=)
c.1071C>A (p.Ala357=)
c.1080C>A (p.Ala360=)
1g.21576568C>GCA416534021ALPLc.1236C>G (p.Ala412=)
n.505C>G
c.311C>G
c.1005C>G (p.Ala335=)
c.1071C>G (p.Ala357=)
c.1080C>G (p.Ala360=)
1g.21576568C>TCA416534022ALPLc.1236C>T (p.Ala412=)
n.505C>T
c.311C>T
c.1005C>T (p.Ala335=)
c.1071C>T (p.Ala357=)
c.1080C>T (p.Ala360=)
1g.21576569A>CCA338881753ALPLc.1237A>C (p.Ile413Leu)
n.506A>C
c.312A>C
c.1006A>C (p.Ile336Leu)
c.1072A>C (p.Ile358Leu)
c.1081A>C (p.Ile361Leu)
1g.21576569A>GCA338881754ALPLc.1237A>G (p.Ile413Val)
n.506A>G
c.312A>G
c.1006A>G (p.Ile336Val)
c.1072A>G (p.Ile358Val)
c.1081A>G (p.Ile361Val)
1g.21576569A>TCA338881755ALPLc.1237A>T (p.Ile413Phe)
n.506A>T
c.312A>T
c.1006A>T (p.Ile336Phe)
c.1072A>T (p.Ile358Phe)
c.1081A>T (p.Ile361Phe)
1g.21576570T>ACA338881758ALPLc.1238T>A (p.Ile413Asn)
n.507T>A
c.313T>A
c.1007T>A (p.Ile336Asn)
c.1073T>A (p.Ile358Asn)
c.1082T>A (p.Ile361Asn)
1g.21576570T>CCA338881756ALPLc.1238T>C (p.Ile413Thr)
n.507T>C
c.313T>C
c.1007T>C (p.Ile336Thr)
c.1073T>C (p.Ile358Thr)
c.1082T>C (p.Ile361Thr)
 ClinVar dbSNP
1g.21576570T>GCA338881757ALPLc.1238T>G (p.Ile413Ser)
n.507T>G
c.313T>G
c.1007T>G (p.Ile336Ser)
c.1073T>G (p.Ile358Ser)
c.1082T>G (p.Ile361Ser)
1g.21576571C>ACA416534024ALPLc.1239C>A (p.Ile413=)
n.508C>A
c.314C>A
c.1008C>A (p.Ile336=)
c.1074C>A (p.Ile358=)
c.1083C>A (p.Ile361=)
 gnomAD v4
1g.21576571C>GCA338881759ALPLc.1239C>G (p.Ile413Met)
n.508C>G
c.314C>G
c.1008C>G (p.Ile336Met)
c.1074C>G (p.Ile358Met)
c.1083C>G (p.Ile361Met)
1g.21576571C>TCA416534023ALPLc.1239C>T (p.Ile413=)
n.508C>T
c.314C>T
c.1008C>T (p.Ile336=)
c.1074C>T (p.Ile358=)
c.1083C>T (p.Ile361=)
 ClinVar gnomAD v4
1g.21576572C>ACA338881760ALPLc.1240C>A (p.Leu414Met)
n.509C>A
c.315C>A
c.1009C>A (p.Leu337Met)
c.1075C>A (p.Leu359Met)
c.1084C>A (p.Leu362Met)
 ClinVar dbSNP gnomAD v4
1g.21576572C>GCA338881761ALPLc.1240C>G (p.Leu414Val)
n.509C>G
c.315C>G
c.1009C>G (p.Leu337Val)
c.1075C>G (p.Leu359Val)
c.1084C>G (p.Leu362Val)
 ClinVar
1g.21576572C>TCA416534025ALPLc.1240C>T (p.Leu414=)
n.509C>T
c.315C>T
c.1009C>T (p.Leu337=)
c.1075C>T (p.Leu359=)
c.1084C>T (p.Leu362=)
1g.21576573T>ACA338881762ALPLc.1241T>A (p.Leu414Gln)
n.510T>A
c.316T>A
c.1010T>A (p.Leu337Gln)
c.1076T>A (p.Leu359Gln)
c.1085T>A (p.Leu362Gln)
1g.21576573T>CCA338881763ALPLc.1241T>C (p.Leu414Pro)
n.510T>C
c.316T>C
c.1010T>C (p.Leu337Pro)
c.1076T>C (p.Leu359Pro)
c.1085T>C (p.Leu362Pro)
 ClinVar
1g.21576573T>GCA338881764ALPLc.1241T>G (p.Leu414Arg)
n.510T>G
c.316T>G
c.1010T>G (p.Leu337Arg)
c.1076T>G (p.Leu359Arg)
c.1085T>G (p.Leu362Arg)
1g.21576574G>ACA416534027ALPLc.1242G>A (p.Leu414=)
n.511G>A
c.317G>A
c.1011G>A (p.Leu337=)
c.1077G>A (p.Leu359=)
c.1086G>A (p.Leu362=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21576574G>CCA416534026ALPLc.1242G>C (p.Leu414=)
n.511G>C
c.317G>C
c.1011G>C (p.Leu337=)
c.1077G>C (p.Leu359=)
c.1086G>C (p.Leu362=)
1g.21576574G=CA1158019780ALPLc.1242G= (p.Leu414=)
n.511G=
c.317G=
c.1011G= (p.Leu337=)
c.1077G= (p.Leu359=)
c.1086G= (p.Leu362=)
1g.21576574G>TCA416534028ALPLc.1242G>T (p.Leu414=)
n.511G>T
c.317G>T
c.1011G>T (p.Leu337=)
c.1077G>T (p.Leu359=)
c.1086G>T (p.Leu362=)
1g.21576575T>ACA338881765ALPLc.1243T>A (p.Tyr415Asn)
n.512T>A
c.318T>A
c.1012T>A (p.Tyr338Asn)
c.1078T>A (p.Tyr360Asn)
c.1087T>A (p.Tyr363Asn)
1g.21576575T>CCA338881766ALPLc.1243T>C (p.Tyr415His)
n.512T>C
c.318T>C
c.1012T>C (p.Tyr338His)
c.1078T>C (p.Tyr360His)
c.1087T>C (p.Tyr363His)
1g.21576575T>GCA338881767ALPLc.1243T>G (p.Tyr415Asp)
n.512T>G
c.318T>G
c.1012T>G (p.Tyr338Asp)
c.1078T>G (p.Tyr360Asp)
c.1087T>G (p.Tyr363Asp)
 ClinVar dbSNP
1g.21576576A>CCA338881768ALPLc.1244A>C (p.Tyr415Ser)
n.513A>C
c.319A>C
c.1013A>C (p.Tyr338Ser)
c.1079A>C (p.Tyr360Ser)
c.1088A>C (p.Tyr363Ser)
1g.21576576A>GCA338881769ALPLc.1244A>G (p.Tyr415Cys)
n.513A>G
c.319A>G
c.1013A>G (p.Tyr338Cys)
c.1079A>G (p.Tyr360Cys)
c.1088A>G (p.Tyr363Cys)
 gnomAD v4
1g.21576576A>TCA338881770ALPLc.1244A>T (p.Tyr415Phe)
n.513A>T
c.319A>T
c.1013A>T (p.Tyr338Phe)
c.1079A>T (p.Tyr360Phe)
c.1088A>T (p.Tyr363Phe)
1g.21576577T>ACA338881772ALPLc.1245T>A (p.Tyr415Ter)
n.514T>A
c.320T>A
c.1014T>A (p.Tyr338Ter)
c.1080T>A (p.Tyr360Ter)
c.1089T>A (p.Tyr363Ter)
1g.21576577T>CCA666789ALPLc.1245T>C (p.Tyr415=)
n.514T>C
c.320T>C
c.1014T>C (p.Tyr338=)
c.1080T>C (p.Tyr360=)
c.1089T>C (p.Tyr363=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21576577T>GCA338881771ALPLc.1245T>G (p.Tyr415Ter)
n.514T>G
c.320T>G
c.1014T>G (p.Tyr338Ter)
c.1080T>G (p.Tyr360Ter)
c.1089T>G (p.Tyr363Ter)
1g.21576577T=CA1148469473ALPLc.1245T= (p.Tyr415=)
n.514T=
c.320T=
c.1014T= (p.Tyr338=)
c.1080T= (p.Tyr360=)
c.1089T= (p.Tyr363=)
1g.21576578G>ACA338881774ALPLc.1246G>A (p.Gly416Ser)
n.515G>A
c.321G>A
c.1015G>A (p.Gly339Ser)
c.1081G>A (p.Gly361Ser)
c.1090G>A (p.Gly364Ser)
1g.21576578G>CCA338881773ALPLc.1246G>C (p.Gly416Arg)
n.515G>C
c.321G>C
c.1015G>C (p.Gly339Arg)
c.1081G>C (p.Gly361Arg)
c.1090G>C (p.Gly364Arg)
1g.21576578G>TCA338881775ALPLc.1246G>T (p.Gly416Cys)
n.515G>T
c.321G>T
c.1015G>T (p.Gly339Cys)
c.1081G>T (p.Gly361Cys)
c.1090G>T (p.Gly364Cys)
 gnomAD v4
1g.21576579G>ACA338881776ALPLc.1247G>A (p.Gly416Asp)
n.516G>A
c.322G>A
c.1016G>A (p.Gly339Asp)
c.1082G>A (p.Gly361Asp)
c.1091G>A (p.Gly364Asp)
 ClinVar dbSNP
1g.21576579G>CCA338881778ALPLc.1247G>C (p.Gly416Ala)
n.516G>C
c.322G>C
c.1016G>C (p.Gly339Ala)
c.1082G>C (p.Gly361Ala)
c.1091G>C (p.Gly364Ala)
 gnomAD v4
1g.21576579G>TCA338881777ALPLc.1247G>T (p.Gly416Val)
n.516G>T
c.322G>T
c.1016G>T (p.Gly339Val)
c.1082G>T (p.Gly361Val)
c.1091G>T (p.Gly364Val)
 ClinVar
1g.21576580C>ACA416534030ALPLc.1248C>A (p.Gly416=)
n.517C>A
c.323C>A
c.1017C>A (p.Gly339=)
c.1083C>A (p.Gly361=)
c.1092C>A (p.Gly364=)
1g.21576580C=CA1158019781ALPLc.1248C= (p.Gly416=)
n.517C=
c.323C=
c.1017C= (p.Gly339=)
c.1083C= (p.Gly361=)
c.1092C= (p.Gly364=)
1g.21576580C>GCA416534031ALPLc.1248C>G (p.Gly416=)
n.517C>G
c.323C>G
c.1017C>G (p.Gly339=)
c.1083C>G (p.Gly361=)
c.1092C>G (p.Gly364=)
 dbSNP gnomAD v2 gnomAD v4
1g.21576580C>TCA416534029ALPLc.1248C>T (p.Gly416=)
n.517C>T
c.323C>T
c.1017C>T (p.Gly339=)
c.1083C>T (p.Gly361=)
c.1092C>T (p.Gly364=)
 gnomAD v4
1g.21576581A>CCA338881779ALPLc.1249A>C (p.Asn417His)
n.518A>C
c.324A>C
c.1018A>C (p.Asn340His)
c.1084A>C (p.Asn362His)
c.1093A>C (p.Asn365His)
1g.21576581A>GCA338881780ALPLc.1249A>G (p.Asn417Asp)
n.518A>G
c.324A>G
c.1018A>G (p.Asn340Asp)
c.1084A>G (p.Asn362Asp)
c.1093A>G (p.Asn365Asp)
1g.21576581A>TCA338881781ALPLc.1249A>T (p.Asn417Tyr)
n.518A>T
c.324A>T
c.1018A>T (p.Asn340Tyr)
c.1084A>T (p.Asn362Tyr)
c.1093A>T (p.Asn365Tyr)
1g.21576582A=CA1141580649ALPLc.1250A= (p.Asn417=)
n.519A=
c.325A=
c.1019A= (p.Asn340=)
c.1085A= (p.Asn362=)
c.1094A= (p.Asn365=)
1g.21576582A>CCA338881782ALPLc.1250A>C (p.Asn417Thr)
n.519A>C
c.325A>C
c.1019A>C (p.Asn340Thr)
c.1085A>C (p.Asn362Thr)
c.1094A>C (p.Asn365Thr)
1g.21576582A>GCA199266ALPLc.1250A>G (p.Asn417Ser)
n.519A>G
c.325A>G
c.1019A>G (p.Asn340Ser)
c.1085A>G (p.Asn362Ser)
c.1094A>G (p.Asn365Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21576582A>TCA338881783ALPLc.1250A>T (p.Asn417Ile)
n.519A>T
c.325A>T
c.1019A>T (p.Asn340Ile)
c.1085A>T (p.Asn362Ile)
c.1094A>T (p.Asn365Ile)
1g.21576583T>ACA338881784ALPLc.1251T>A (p.Asn417Lys)
n.520T>A
c.326T>A
c.1020T>A (p.Asn340Lys)
c.1086T>A (p.Asn362Lys)
c.1095T>A (p.Asn365Lys)
1g.21576583T>CCA416534032ALPLc.1251T>C (p.Asn417=)
n.520T>C
c.326T>C
c.1020T>C (p.Asn340=)
c.1086T>C (p.Asn362=)
c.1095T>C (p.Asn365=)
 ClinVar dbSNP
1g.21576583T>GCA338881785ALPLc.1251T>G (p.Asn417Lys)
n.520T>G
c.326T>G
c.1020T>G (p.Asn340Lys)
c.1086T>G (p.Asn362Lys)
c.1095T>G (p.Asn365Lys)
1g.21576584G>ACA338881786ALPLc.1252G>A (p.Gly418Arg)
n.521G>A
c.327G>A
c.1021G>A (p.Gly341Arg)
c.1087G>A (p.Gly363Arg)
c.1096G>A (p.Gly366Arg)
1g.21576584G>CCA338881787ALPLc.1252G>C (p.Gly418Arg)
n.521G>C
c.327G>C
c.1021G>C (p.Gly341Arg)
c.1087G>C (p.Gly363Arg)
c.1096G>C (p.Gly366Arg)
1g.21576584G>TCA338881788ALPLc.1252G>T (p.Gly418Trp)
n.521G>T
c.327G>T
c.1021G>T (p.Gly341Trp)
c.1087G>T (p.Gly363Trp)
c.1096G>T (p.Gly366Trp)
1g.21576585G>ACA338881791ALPLc.1253G>A (p.Gly418Glu)
n.522G>A
c.328G>A
c.1022G>A (p.Gly341Glu)
c.1088G>A (p.Gly363Glu)
c.1097G>A (p.Gly366Glu)
1g.21576585G>CCA338881790ALPLc.1253G>C (p.Gly418Ala)
n.522G>C
c.328G>C
c.1022G>C (p.Gly341Ala)
c.1088G>C (p.Gly363Ala)
c.1097G>C (p.Gly366Ala)
1g.21576585G>TCA338881789ALPLc.1253G>T (p.Gly418Val)
n.522G>T
c.328G>T
c.1022G>T (p.Gly341Val)
c.1088G>T (p.Gly363Val)
c.1097G>T (p.Gly366Val)
1g.21576586G>ACA416534033ALPLc.1254G>A (p.Gly418=)
n.523G>A
c.329G>A
c.1023G>A (p.Gly341=)
c.1089G>A (p.Gly363=)
c.1098G>A (p.Gly366=)
1g.21576586G>CCA416534034ALPLc.1254G>C (p.Gly418=)
n.523G>C
c.329G>C
c.1023G>C (p.Gly341=)
c.1089G>C (p.Gly363=)
c.1098G>C (p.Gly366=)
 dbSNP
1g.21576586G=CA1158019782ALPLc.1254G= (p.Gly418=)
n.523G=
c.329G=
c.1023G= (p.Gly341=)
c.1089G= (p.Gly363=)
c.1098G= (p.Gly366=)
1g.21576586G>TCA416534035ALPLc.1254G>T (p.Gly418=)
n.523G>T
c.329G>T
c.1023G>T (p.Gly341=)
c.1089G>T (p.Gly363=)
c.1098G>T (p.Gly366=)
1g.21576587C>ACA338881792ALPLc.1255C>A (p.Pro419Thr)
n.524C>A
c.330C>A
c.1024C>A (p.Pro342Thr)
c.1090C>A (p.Pro364Thr)
c.1099C>A (p.Pro367Thr)
1g.21576587C>GCA338881793ALPLc.1255C>G (p.Pro419Ala)
n.524C>G
c.330C>G
c.1024C>G (p.Pro342Ala)
c.1090C>G (p.Pro364Ala)
c.1099C>G (p.Pro367Ala)
1g.21576587C>TCA338881794ALPLc.1255C>T (p.Pro419Ser)
n.524C>T
c.330C>T
c.1024C>T (p.Pro342Ser)
c.1090C>T (p.Pro364Ser)
c.1099C>T (p.Pro367Ser)
1g.21576588delCA2586966222ALPLc.1256del (p.Pro419LeufsTer?)
n.525del
c.331del
c.1025del (p.Pro342LeufsTer?)
c.1091del (p.Pro364LeufsTer?)
c.1100del (p.Pro367LeufsTer?)
1g.21576588C>ACA338881795ALPLc.1256C>A (p.Pro419His)
n.525C>A
c.331C>A
c.1025C>A (p.Pro342His)
c.1091C>A (p.Pro364His)
c.1100C>A (p.Pro367His)
1g.21576588C>GCA338881796ALPLc.1256C>G (p.Pro419Arg)
n.525C>G
c.331C>G
c.1025C>G (p.Pro342Arg)
c.1091C>G (p.Pro364Arg)
c.1100C>G (p.Pro367Arg)
1g.21576588C>TCA338881797ALPLc.1256C>T (p.Pro419Leu)
n.525C>T
c.331C>T
c.1025C>T (p.Pro342Leu)
c.1091C>T (p.Pro364Leu)
c.1100C>T (p.Pro367Leu)
1g.21576589T>ACA416534037ALPLc.1257T>A (p.Pro419=)
n.526T>A
c.332T>A
c.1026T>A (p.Pro342=)
c.1092T>A (p.Pro364=)
c.1101T>A (p.Pro367=)
1g.21576589T>CCA416534038ALPLc.1257T>C (p.Pro419=)
n.526T>C
c.332T>C
c.1026T>C (p.Pro342=)
c.1092T>C (p.Pro364=)
c.1101T>C (p.Pro367=)
 ClinVar dbSNP gnomAD v4
1g.21576589T>GCA416534036ALPLc.1257T>G (p.Pro419=)
n.526T>G
c.332T>G
c.1026T>G (p.Pro342=)
c.1092T>G (p.Pro364=)
c.1101T>G (p.Pro367=)
1g.21576589dupCA2697552241ALPLc.1257dup (p.Gly420TrpfsTer8)
n.526dup
c.332dup
c.1026dup (p.Gly343TrpfsTer8)
c.1092dup (p.Gly365TrpfsTer8)
c.1101dup (p.Gly368TrpfsTer8)
 ClinVar
1g.21576590G>ACA338881798ALPLc.1258G>A (p.Gly420Ser)
n.527G>A
c.333G>A
c.1027G>A (p.Gly343Ser)
c.1093G>A (p.Gly365Ser)
c.1102G>A (p.Gly368Ser)
 ClinVar dbSNP
1g.21576590G>CCA338881799ALPLc.1258G>C (p.Gly420Arg)
n.527G>C
c.333G>C
c.1027G>C (p.Gly343Arg)
c.1093G>C (p.Gly365Arg)
c.1102G>C (p.Gly368Arg)
1g.21576590G=CA1158019783ALPLc.1258G= (p.Gly420=)
n.527G=
c.333G=
c.1027G= (p.Gly343=)
c.1093G= (p.Gly365=)
c.1102G= (p.Gly368=)
1g.21576590G>TCA338881800ALPLc.1258G>T (p.Gly420Cys)
n.527G>T
c.333G>T
c.1027G>T (p.Gly343Cys)
c.1093G>T (p.Gly365Cys)
c.1102G>T (p.Gly368Cys)
1g.21576591G>ACA338881801ALPLc.1259G>A (p.Gly420Asp)
n.528G>A
c.334G>A
c.1028G>A (p.Gly343Asp)
c.1094G>A (p.Gly365Asp)
c.1103G>A (p.Gly368Asp)
 ClinVar gnomAD v4
1g.21576591G>CCA338881802ALPLc.1259G>C (p.Gly420Ala)
n.528G>C
c.334G>C
c.1028G>C (p.Gly343Ala)
c.1094G>C (p.Gly365Ala)
c.1103G>C (p.Gly368Ala)
 ClinVar
1g.21576591G>TCA338881803ALPLc.1259G>T (p.Gly420Val)
n.528G>T
c.334G>T
c.1028G>T (p.Gly343Val)
c.1094G>T (p.Gly365Val)
c.1103G>T (p.Gly368Val)
1g.21576592C>ACA416534041ALPLc.1260C>A (p.Gly420=)
n.529C>A
c.335C>A
c.1029C>A (p.Gly343=)
c.1095C>A (p.Gly365=)
c.1104C>A (p.Gly368=)
1g.21576592C>GCA416534039ALPLc.1260C>G (p.Gly420=)
n.529C>G
c.335C>G
c.1029C>G (p.Gly343=)
c.1095C>G (p.Gly365=)
c.1104C>G (p.Gly368=)
1g.21576592C>TCA416534040ALPLc.1260C>T (p.Gly420=)
n.529C>T
c.335C>T
c.1029C>T (p.Gly343=)
c.1095C>T (p.Gly365=)
c.1104C>T (p.Gly368=)
1g.21576593T>ACA338881806ALPLc.1261T>A (p.Tyr421Asn)
n.530T>A
c.336T>A
c.1030T>A (p.Tyr344Asn)
c.1096T>A (p.Tyr366Asn)
c.1105T>A (p.Tyr369Asn)
1g.21576593T>CCA338881805ALPLc.1261T>C (p.Tyr421His)
n.530T>C
c.336T>C
c.1030T>C (p.Tyr344His)
c.1096T>C (p.Tyr366His)
c.1105T>C (p.Tyr369His)
1g.21576593T>GCA338881804ALPLc.1261T>G (p.Tyr421Asp)
n.530T>G
c.336T>G
c.1030T>G (p.Tyr344Asp)
c.1096T>G (p.Tyr366Asp)
c.1105T>G (p.Tyr369Asp)
1g.21576594A>CCA338881809ALPLc.1262A>C (p.Tyr421Ser)
n.531A>C
c.337A>C
c.1031A>C (p.Tyr344Ser)
c.1097A>C (p.Tyr366Ser)
c.1106A>C (p.Tyr369Ser)
1g.21576594A>GCA338881807ALPLc.1262A>G (p.Tyr421Cys)
n.531A>G
c.337A>G
c.1031A>G (p.Tyr344Cys)
c.1097A>G (p.Tyr366Cys)
c.1106A>G (p.Tyr369Cys)
 ClinVar gnomAD v4
1g.21576594A>TCA338881808ALPLc.1262A>T (p.Tyr421Phe)
n.531A>T
c.337A>T
c.1031A>T (p.Tyr344Phe)
c.1097A>T (p.Tyr366Phe)
c.1106A>T (p.Tyr369Phe)
1g.21576595C>ACA338881810ALPLc.1263C>A (p.Tyr421Ter)
n.532C>A
c.338C>A
c.1032C>A (p.Tyr344Ter)
c.1098C>A (p.Tyr366Ter)
c.1107C>A (p.Tyr369Ter)
1g.21576595C=CA1158019784ALPLc.1263C= (p.Tyr421=)
n.532C=
c.338C=
c.1032C= (p.Tyr344=)
c.1098C= (p.Tyr366=)
c.1107C= (p.Tyr369=)
1g.21576595C>GCA338881811ALPLc.1263C>G (p.Tyr421Ter)
n.532C>G
c.338C>G
c.1032C>G (p.Tyr344Ter)
c.1098C>G (p.Tyr366Ter)
c.1107C>G (p.Tyr369Ter)
 dbSNP
1g.21576595C>TCA19071242ALPLc.1263C>T (p.Tyr421=)
n.532C>T
c.338C>T
c.1032C>T (p.Tyr344=)
c.1098C>T (p.Tyr366=)
c.1107C>T (p.Tyr369=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21576596A>CCA338881812ALPLc.1264A>C (p.Lys422Gln)
n.533A>C
c.339A>C
c.1033A>C (p.Lys345Gln)
c.1099A>C (p.Lys367Gln)
c.1108A>C (p.Lys370Gln)
1g.21576596A>GCA338881813ALPLc.1264A>G (p.Lys422Glu)
n.533A>G
c.339A>G
c.1033A>G (p.Lys345Glu)
c.1099A>G (p.Lys367Glu)
c.1108A>G (p.Lys370Glu)
1g.21576596A>TCA338881814ALPLc.1264A>T (p.Lys422Ter)
n.533A>T
c.339A>T
c.1033A>T (p.Lys345Ter)
c.1099A>T (p.Lys367Ter)
c.1108A>T (p.Lys370Ter)
1g.21576597A=CA1158019785ALPLc.1265A= (p.Lys422=)
n.534A=
c.340A=
c.1034A= (p.Lys345=)
c.1100A= (p.Lys367=)
c.1109A= (p.Lys370=)
1g.21576597A>CCA338881815ALPLc.1265A>C (p.Lys422Thr)
n.534A>C
c.340A>C
c.1034A>C (p.Lys345Thr)
c.1100A>C (p.Lys367Thr)
c.1109A>C (p.Lys370Thr)
1g.21576597A>GCA338881816ALPLc.1265A>G (p.Lys422Arg)
n.534A>G
c.340A>G
c.1034A>G (p.Lys345Arg)
c.1100A>G (p.Lys367Arg)
c.1109A>G (p.Lys370Arg)
 dbSNP gnomAD v4
1g.21576597A>TCA338881817ALPLc.1265A>T (p.Lys422Met)
n.534A>T
c.340A>T
c.1034A>T (p.Lys345Met)
c.1100A>T (p.Lys367Met)
c.1109A>T (p.Lys370Met)
1g.21576598G>ACA416534042ALPLc.1266G>A (p.Lys422=)
n.535G>A
c.341G>A
c.1035G>A (p.Lys345=)
c.1101G>A (p.Lys367=)
c.1110G>A (p.Lys370=)
1g.21576598G>CCA338881818ALPLc.1266G>C (p.Lys422Asn)
n.535G>C
c.341G>C
c.1035G>C (p.Lys345Asn)
c.1101G>C (p.Lys367Asn)
c.1110G>C (p.Lys370Asn)
1g.21576598G>TCA338881819ALPLc.1266G>T (p.Lys422Asn)
n.535G>T
c.341G>T
c.1035G>T (p.Lys345Asn)
c.1101G>T (p.Lys367Asn)
c.1110G>T (p.Lys370Asn)
1g.21576599G>ACA338881822ALPLc.1267G>A (p.Val423Met)
n.536G>A
c.342G>A
c.1036G>A (p.Val346Met)
c.1102G>A (p.Val368Met)
c.1111G>A (p.Val371Met)
 ClinVar gnomAD v4
1g.21576599G>CCA338881820ALPLc.1267G>C (p.Val423Leu)
n.536G>C
c.342G>C
c.1036G>C (p.Val346Leu)
c.1102G>C (p.Val368Leu)
c.1111G>C (p.Val371Leu)
1g.21576599G>TCA338881821ALPLc.1267G>T (p.Val423Leu)
n.536G>T
c.342G>T
c.1036G>T (p.Val346Leu)
c.1102G>T (p.Val368Leu)
c.1111G>T (p.Val371Leu)
1g.21576600T>ACA338881823ALPLc.1268T>A (p.Val423Glu)
n.537T>A
c.343T>A
c.1037T>A (p.Val346Glu)
c.1103T>A (p.Val368Glu)
c.1112T>A (p.Val371Glu)
1g.21576600T>CCA338881824ALPLc.1268T>C (p.Val423Ala)
n.537T>C
c.343T>C
c.1037T>C (p.Val346Ala)
c.1103T>C (p.Val368Ala)
c.1112T>C (p.Val371Ala)
 ClinVar dbSNP gnomAD v4
1g.21576600T>GCA338881825ALPLc.1268T>G (p.Val423Gly)
n.537T>G
c.343T>G
c.1037T>G (p.Val346Gly)
c.1103T>G (p.Val368Gly)
c.1112T>G (p.Val371Gly)
1g.21576601G>ACA416534045ALPLc.1269G>A (p.Val423=)
n.538G>A
c.344G>A
c.1038G>A (p.Val346=)
c.1104G>A (p.Val368=)
c.1113G>A (p.Val371=)
1g.21576601G>CCA416534044ALPLc.1269G>C (p.Val423=)
n.538G>C
c.344G>C
c.1038G>C (p.Val346=)
c.1104G>C (p.Val368=)
c.1113G>C (p.Val371=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21576601G=CA1158019786ALPLc.1269G= (p.Val423=)
n.538G=
c.344G=
c.1038G= (p.Val346=)
c.1104G= (p.Val368=)
c.1113G= (p.Val371=)
1g.21576601G>TCA416534043ALPLc.1269G>T (p.Val423=)
n.538G>T
c.344G>T
c.1038G>T (p.Val346=)
c.1104G>T (p.Val368=)
c.1113G>T (p.Val371=)
1g.21576602G>ACA338881826ALPLc.1270G>A (p.Val424Met)
n.539G>A
c.345G>A
c.1039G>A (p.Val347Met)
c.1105G>A (p.Val369Met)
c.1114G>A (p.Val372Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21576602G>CCA338881827ALPLc.1270G>C (p.Val424Leu)
n.539G>C
c.345G>C
c.1039G>C (p.Val347Leu)
c.1105G>C (p.Val369Leu)
c.1114G>C (p.Val372Leu)
1g.21576602G=CA1158019787ALPLc.1270G= (p.Val424=)
n.539G=
c.345G=
c.1039G= (p.Val347=)
c.1105G= (p.Val369=)
c.1114G= (p.Val372=)
1g.21576602G>TCA338881828ALPLc.1270G>T (p.Val424Leu)
n.539G>T
c.345G>T
c.1039G>T (p.Val347Leu)
c.1105G>T (p.Val369Leu)
c.1114G>T (p.Val372Leu)
1g.21576603T>ACA338881829ALPLc.1271T>A (p.Val424Glu)
n.540T>A
c.346T>A
c.1040T>A (p.Val347Glu)
c.1106T>A (p.Val369Glu)
c.1115T>A (p.Val372Glu)
1g.21576603T>CCA338881830ALPLc.1271T>C (p.Val424Ala)
n.540T>C
c.346T>C
c.1040T>C (p.Val347Ala)
c.1106T>C (p.Val369Ala)
c.1115T>C (p.Val372Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21576603T>GCA338881831ALPLc.1271T>G (p.Val424Gly)
n.540T>G
c.346T>G
c.1040T>G (p.Val347Gly)
c.1106T>G (p.Val369Gly)
c.1115T>G (p.Val372Gly)
1g.21576603T=CA1158019788ALPLc.1271T= (p.Val424=)
n.540T=
c.346T=
c.1040T= (p.Val347=)
c.1106T= (p.Val369=)
c.1115T= (p.Val372=)
1g.21576604G>ACA416534046ALPLc.1272G>A (p.Val424=)
n.541G>A
c.347G>A
c.1041G>A (p.Val347=)
c.1107G>A (p.Val369=)
c.1116G>A (p.Val372=)
1g.21576604G>CCA416534047ALPLc.1272G>C (p.Val424=)
n.541G>C
c.347G>C
c.1041G>C (p.Val347=)
c.1107G>C (p.Val369=)
c.1116G>C (p.Val372=)
1g.21576604G>TCA416534048ALPLc.1272G>T (p.Val424=)
n.541G>T
c.347G>T
c.1041G>T (p.Val347=)
c.1107G>T (p.Val369=)
c.1116G>T (p.Val372=)
1g.21576605G>ACA338881832ALPLc.1273G>A (p.Gly425Ser)
n.542G>A
c.348G>A
c.1042G>A (p.Gly348Ser)
c.1108G>A (p.Gly370Ser)
c.1117G>A (p.Gly373Ser)
1g.21576605G>CCA338881833ALPLc.1273G>C (p.Gly425Arg)
n.542G>C
c.348G>C
c.1042G>C (p.Gly348Arg)
c.1108G>C (p.Gly370Arg)
c.1117G>C (p.Gly373Arg)
1g.21576605G>TCA338881834ALPLc.1273G>T (p.Gly425Cys)
n.542G>T
c.348G>T
c.1042G>T (p.Gly348Cys)
c.1108G>T (p.Gly370Cys)
c.1117G>T (p.Gly373Cys)
1g.21576606G>ACA666790ALPLc.1274G>A (p.Gly425Asp)
n.543G>A
c.349G>A
c.1043G>A (p.Gly348Asp)
c.1109G>A (p.Gly370Asp)
c.1118G>A (p.Gly373Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21576606G>CCA338881836ALPLc.1274G>C (p.Gly425Ala)
n.543G>C
c.349G>C
c.1043G>C (p.Gly348Ala)
c.1109G>C (p.Gly370Ala)
c.1118G>C (p.Gly373Ala)
1g.21576606G=CA1158019789ALPLc.1274G= (p.Gly425=)
n.543G=
c.349G=
c.1043G= (p.Gly348=)
c.1109G= (p.Gly370=)
c.1118G= (p.Gly373=)
1g.21576606G>TCA338881835ALPLc.1274G>T (p.Gly425Val)
n.543G>T
c.349G>T
c.1043G>T (p.Gly348Val)
c.1109G>T (p.Gly370Val)
c.1118G>T (p.Gly373Val)
1g.21576607C>ACA416534050ALPLc.1275C>A (p.Gly425=)
n.544C>A
c.350C>A
c.1044C>A (p.Gly348=)
c.1110C>A (p.Gly370=)
c.1119C>A (p.Gly373=)
1g.21576607C=CA1149048587ALPLc.1275C= (p.Gly425=)
n.544C=
c.350C=
c.1044C= (p.Gly348=)
c.1110C= (p.Gly370=)
c.1119C= (p.Gly373=)
1g.21576607C>GCA416534049ALPLc.1275C>G (p.Gly425=)
n.544C>G
c.350C>G
c.1044C>G (p.Gly348=)
c.1110C>G (p.Gly370=)
c.1119C>G (p.Gly373=)
1g.21576607C>TCA666791ALPLc.1275C>T (p.Gly425=)
n.544C>T
c.350C>T
c.1044C>T (p.Gly348=)
c.1110C>T (p.Gly370=)
c.1119C>T (p.Gly373=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21576608G>ACA666792ALPLc.1276G>A (p.Gly426Ser)
n.545G>A
c.351G>A
c.1045G>A (p.Gly349Ser)
c.1111G>A (p.Gly371Ser)
c.1120G>A (p.Gly374Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.21576608G>CCA338881837ALPLc.1276G>C (p.Gly426Arg)
n.545G>C
c.351G>C
c.1045G>C (p.Gly349Arg)
c.1111G>C (p.Gly371Arg)
c.1120G>C (p.Gly374Arg)
1g.21576608G=CA1158019790ALPLc.1276G= (p.Gly426=)
n.545G=
c.351G=
c.1045G= (p.Gly349=)
c.1111G= (p.Gly371=)
c.1120G= (p.Gly374=)
1g.21576608G>TCA338881838ALPLc.1276G>T (p.Gly426Cys)
n.545G>T
c.351G>T
c.1045G>T (p.Gly349Cys)
c.1111G>T (p.Gly371Cys)
c.1120G>T (p.Gly374Cys)
1g.21576609G>ACA338881839ALPLc.1277G>A (p.Gly426Asp)
n.546G>A
c.352G>A
c.1046G>A (p.Gly349Asp)
c.1112G>A (p.Gly371Asp)
c.1121G>A (p.Gly374Asp)
 ClinVar gnomAD v4
1g.21576609G>CCA338881840ALPLc.1277G>C (p.Gly426Ala)
n.546G>C
c.352G>C
c.1046G>C (p.Gly349Ala)
c.1112G>C (p.Gly371Ala)
c.1121G>C (p.Gly374Ala)
1g.21576609G>TCA338881841ALPLc.1277G>T (p.Gly426Val)
n.546G>T
c.352G>T
c.1046G>T (p.Gly349Val)
c.1112G>T (p.Gly371Val)
c.1121G>T (p.Gly374Val)
1g.21576610T>ACA416534053ALPLc.1278T>A (p.Gly426=)
n.547T>A
c.353T>A
c.1047T>A (p.Gly349=)
c.1113T>A (p.Gly371=)
c.1122T>A (p.Gly374=)
1g.21576610T>CCA416534051ALPLc.1278T>C (p.Gly426=)
n.547T>C
c.353T>C
c.1047T>C (p.Gly349=)
c.1113T>C (p.Gly371=)
c.1122T>C (p.Gly374=)
 ClinVar dbSNP gnomAD v4
1g.21576610T>GCA416534052ALPLc.1278T>G (p.Gly426=)
n.547T>G
c.353T>G
c.1047T>G (p.Gly349=)
c.1113T>G (p.Gly371=)
c.1122T>G (p.Gly374=)
1g.21576611G>ACA338881842ALPLc.1279G>A (p.Glu427Lys)
n.548G>A
c.354G>A
c.1048G>A (p.Glu350Lys)
c.1114G>A (p.Glu372Lys)
c.1123G>A (p.Glu375Lys)
1g.21576611G>CCA338881843ALPLc.1279G>C (p.Glu427Gln)
n.548G>C
c.354G>C
c.1048G>C (p.Glu350Gln)
c.1114G>C (p.Glu372Gln)
c.1123G>C (p.Glu375Gln)
1g.21576611G=CA1158019791ALPLc.1279G= (p.Glu427=)
n.548G=
c.354G=
c.1048G= (p.Glu350=)
c.1114G= (p.Glu372=)
c.1123G= (p.Glu375=)
1g.21576611G>TCA338881844ALPLc.1279G>T (p.Glu427Ter)
n.548G>T
c.354G>T
c.1048G>T (p.Glu350Ter)
c.1114G>T (p.Glu372Ter)
c.1123G>T (p.Glu375Ter)
1g.21576612A=CA1158019792ALPLc.1280A= (p.Glu427=)
n.549A=
c.355A=
c.1049A= (p.Glu350=)
c.1115A= (p.Glu372=)
c.1124A= (p.Glu375=)
1g.21576612A>CCA666793ALPLc.1280A>C (p.Glu427Ala)
n.549A>C
c.355A>C
c.1049A>C (p.Glu350Ala)
c.1115A>C (p.Glu372Ala)
c.1124A>C (p.Glu375Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21576612A>GCA338881845ALPLc.1280A>G (p.Glu427Gly)
n.549A>G
c.355A>G
c.1049A>G (p.Glu350Gly)
c.1115A>G (p.Glu372Gly)
c.1124A>G (p.Glu375Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.21576612A>TCA338881846ALPLc.1280A>T (p.Glu427Val)
n.549A>T
c.355A>T
c.1049A>T (p.Glu350Val)
c.1115A>T (p.Glu372Val)
c.1124A>T (p.Glu375Val)
1g.21576613dupCA731317674ALPLc.1281dup (p.Arg428ThrfsTer?)
n.550dup
c.356dup
c.1050dup (p.Arg351ThrfsTer?)
c.1116dup (p.Arg373ThrfsTer?)
c.1125dup (p.Arg376ThrfsTer?)
 dbSNP
1g.21576613A>CCA338881847ALPLc.1281A>C (p.Glu427Asp)
n.550A>C
c.356A>C
c.1050A>C (p.Glu350Asp)
c.1116A>C (p.Glu372Asp)
c.1125A>C (p.Glu375Asp)
1g.21576613A>GCA416534054ALPLc.1281A>G (p.Glu427=)
n.550A>G
c.356A>G
c.1050A>G (p.Glu350=)
c.1116A>G (p.Glu372=)
c.1125A>G (p.Glu375=)
 ClinVar
1g.21576613A>TCA338881848ALPLc.1281A>T (p.Glu427Asp)
n.550A>T
c.356A>T
c.1050A>T (p.Glu350Asp)
c.1116A>T (p.Glu372Asp)
c.1125A>T (p.Glu375Asp)
1g.21576614C>ACA416534055ALPLc.1282C>A (p.Arg428=)
n.551C>A
c.357C>A
c.1051C>A (p.Arg351=)
c.1117C>A (p.Arg373=)
c.1126C>A (p.Arg376=)
1g.21576614C=CA1158019793ALPLc.1282C= (p.Arg428=)
n.551C=
c.357C=
c.1051C= (p.Arg351=)
c.1117C= (p.Arg373=)
c.1126C= (p.Arg376=)
1g.21576614C>GCA338881849ALPLc.1282C>G (p.Arg428Gly)
n.551C>G
c.357C>G
c.1051C>G (p.Arg351Gly)
c.1117C>G (p.Arg373Gly)
c.1126C>G (p.Arg376Gly)
1g.21576614C>TCA666794ALPLc.1282C>T (p.Arg428Ter)
n.551C>T
c.357C>T
c.1051C>T (p.Arg351Ter)
c.1117C>T (p.Arg373Ter)
c.1126C>T (p.Arg376Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.21576615G>ACA338881850ALPLc.1283G>A (p.Arg428Gln)
n.552G>A
c.358G>A
c.1052G>A (p.Arg351Gln)
c.1118G>A (p.Arg373Gln)
c.1127G>A (p.Arg376Gln)
 ClinVar dbSNP gnomAD v4
1g.21576615G>CCA338881851ALPLc.1283G>C (p.Arg428Pro)
n.552G>C
c.358G>C
c.1052G>C (p.Arg351Pro)
c.1118G>C (p.Arg373Pro)
c.1127G>C (p.Arg376Pro)
 ClinVar dbSNP
1g.21576615G=CA1158019794ALPLc.1283G= (p.Arg428=)
n.552G=
c.358G=
c.1052G= (p.Arg351=)
c.1118G= (p.Arg373=)
c.1127G= (p.Arg376=)
1g.21576615G>TCA338881852ALPLc.1283G>T (p.Arg428Leu)
n.552G>T
c.358G>T
c.1052G>T (p.Arg351Leu)
c.1118G>T (p.Arg373Leu)
c.1127G>T (p.Arg376Leu)
 ClinVar
1g.21576619_21576620delCA2574253202ALPLc.1287_1288del (p.Asn430CysfsTer?)
n.556_557del
c.362_363del
c.1056_1057del (p.Asn353CysfsTer?)
c.1122_1123del (p.Asn375CysfsTer?)
c.1131_1132del (p.Asn378CysfsTer?)

Number of alleles fetched