Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229431496T>GCA1226125357ACTA1c.*3A>C (n.*3A>C)
 dbSNP
1g.229431496T=CA1226125356ACTA1c.*3A= (n.*3A=)
1g.229431499C>ACA345144019ACTA1c.1056G>T (p.Ter352Tyr)
c.999G>T (p.Ter333Tyr)
c.765G>T (p.Ter255Tyr)
c.1134G>T (p.Ter378Tyr)
1g.229431499C>GCA345144022ACTA1c.1056G>C (p.Ter352Tyr)
c.999G>C (p.Ter333Tyr)
c.765G>C (p.Ter255Tyr)
c.1134G>C (p.Ter378Tyr)
1g.229431499C>TCA423754783ACTA1c.1056G>A (p.Ter352=)
c.999G>A (p.Ter333=)
c.765G>A (p.Ter255=)
c.1134G>A (p.Ter378=)
1g.229431500T>ACA345144023ACTA1c.1055A>T (p.Ter352Leu)
c.998A>T (p.Ter333Leu)
c.764A>T (p.Ter255Leu)
c.1133A>T (p.Ter378Leu)
1g.229431500T>CCA345144024ACTA1c.1055A>G (p.Ter352Trp)
c.998A>G (p.Ter333Trp)
c.764A>G (p.Ter255Trp)
c.1133A>G (p.Ter378Trp)
1g.229431500T>GCA345144025ACTA1c.1055A>C (p.Ter352Ser)
c.998A>C (p.Ter333Ser)
c.764A>C (p.Ter255Ser)
c.1133A>C (p.Ter378Ser)
1g.229431501A=CA1226125358ACTA1c.1054T= (p.Ter352=)
c.997T= (p.Ter333=)
c.763T= (p.Ter255=)
c.1132T= (p.Ter378=)
1g.229431501A>CCA345144027ACTA1c.1054T>G (p.Ter352Glu)
c.997T>G (p.Ter333Glu)
c.763T>G (p.Ter255Glu)
c.1132T>G (p.Ter378Glu)
1g.229431501A>GCA345144029ACTA1c.1054T>C (p.Ter352Gln)
c.997T>C (p.Ter333Gln)
c.763T>C (p.Ter255Gln)
c.1132T>C (p.Ter378Gln)
 ClinVar dbSNP
1g.229431501A>TCA345144034ACTA1c.1054T>A (p.Ter352Lys)
c.997T>A (p.Ter333Lys)
c.763T>A (p.Ter255Lys)
c.1132T>A (p.Ter378Lys)
1g.229431502G>ACA423754784ACTA1c.1053C>T (p.Phe351=)
c.996C>T (p.Phe332=)
c.762C>T (p.Phe254=)
c.1131C>T (p.Phe377=)
1g.229431502G>CCA345144037ACTA1c.1053C>G (p.Phe351Leu)
c.996C>G (p.Phe332Leu)
c.762C>G (p.Phe254Leu)
c.1131C>G (p.Phe377Leu)
1g.229431502G>TCA345144040ACTA1c.1053C>A (p.Phe351Leu)
c.996C>A (p.Phe332Leu)
c.762C>A (p.Phe254Leu)
c.1131C>A (p.Phe377Leu)
1g.229431503A=CA1226125359ACTA1c.1052T= (p.Phe351=)
c.995T= (p.Phe332=)
c.761T= (p.Phe254=)
c.1130T= (p.Phe377=)
1g.229431503A>CCA345144043ACTA1c.1052T>G (p.Phe351Cys)
c.995T>G (p.Phe332Cys)
c.761T>G (p.Phe254Cys)
c.1130T>G (p.Phe377Cys)
1g.229431503A>GCA345144046ACTA1c.1052T>C (p.Phe351Ser)
c.995T>C (p.Phe332Ser)
c.761T>C (p.Phe254Ser)
c.1130T>C (p.Phe377Ser)
 ClinVar dbSNP
1g.229431503A>TCA345144055ACTA1c.1052T>A (p.Phe351Tyr)
c.995T>A (p.Phe332Tyr)
c.761T>A (p.Phe254Tyr)
c.1130T>A (p.Phe377Tyr)
1g.229431504A>CCA345144059ACTA1c.1051T>G (p.Phe351Val)
c.994T>G (p.Phe332Val)
c.760T>G (p.Phe254Val)
c.1129T>G (p.Phe377Val)
1g.229431504A>GCA345144062ACTA1c.1051T>C (p.Phe351Leu)
c.994T>C (p.Phe332Leu)
c.760T>C (p.Phe254Leu)
c.1129T>C (p.Phe377Leu)
 gnomAD v4
1g.229431504A>TCA345144065ACTA1c.1051T>A (p.Phe351Ile)
c.994T>A (p.Phe332Ile)
c.760T>A (p.Phe254Ile)
c.1129T>A (p.Phe377Ile)
1g.229431505G>ACA423754785ACTA1c.1050C>T (p.Cys350=)
c.993C>T (p.Cys331=)
c.759C>T (p.Cys253=)
c.1128C>T (p.Cys376=)
 ClinVar dbSNP gnomAD v4 COSMIC
1g.229431505G>CCA345144067ACTA1c.1050C>G (p.Cys350Trp)
c.993C>G (p.Cys331Trp)
c.759C>G (p.Cys253Trp)
c.1128C>G (p.Cys376Trp)
1g.229431505G=CA1226125360ACTA1c.1050C= (p.Cys350=)
c.993C= (p.Cys331=)
c.759C= (p.Cys253=)
c.1128C= (p.Cys376=)
1g.229431505G>TCA345144070ACTA1c.1050C>A (p.Cys350Ter)
c.993C>A (p.Cys331Ter)
c.759C>A (p.Cys253Ter)
c.1128C>A (p.Cys376Ter)
1g.229431506C>ACA345144073ACTA1c.1049G>T (p.Cys350Phe)
c.992G>T (p.Cys331Phe)
c.758G>T (p.Cys253Phe)
c.1127G>T (p.Cys376Phe)
 ClinVar dbSNP
1g.229431506C=CA1226125361ACTA1c.1049G= (p.Cys350=)
c.992G= (p.Cys331=)
c.758G= (p.Cys253=)
c.1127G= (p.Cys376=)
1g.229431506C>GCA345144077ACTA1c.1049G>C (p.Cys350Ser)
c.992G>C (p.Cys331Ser)
c.758G>C (p.Cys253Ser)
c.1127G>C (p.Cys376Ser)
1g.229431506C>TCA345144079ACTA1c.1049G>A (p.Cys350Tyr)
c.992G>A (p.Cys331Tyr)
c.758G>A (p.Cys253Tyr)
c.1127G>A (p.Cys376Tyr)
 ClinVar
1g.229431507A>CCA345144089ACTA1c.1048T>G (p.Cys350Gly)
c.991T>G (p.Cys331Gly)
c.757T>G (p.Cys253Gly)
c.1126T>G (p.Cys376Gly)
1g.229431507A>GCA345144086ACTA1c.1048T>C (p.Cys350Arg)
c.991T>C (p.Cys331Arg)
c.757T>C (p.Cys253Arg)
c.1126T>C (p.Cys376Arg)
1g.229431507A>TCA345144083ACTA1c.1048T>A (p.Cys350Ser)
c.991T>A (p.Cys331Ser)
c.757T>A (p.Cys253Ser)
c.1126T>A (p.Cys376Ser)
1g.229431508T>ACA345144090ACTA1c.1047A>T (p.Lys349Asn)
c.990A>T (p.Lys330Asn)
c.756A>T (p.Lys252Asn)
c.1125A>T (p.Lys375Asn)
1g.229431508T>CCA1442703ACTA1c.1047A>G (p.Lys349=)
c.990A>G (p.Lys330=)
c.756A>G (p.Lys252=)
c.1125A>G (p.Lys375=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431508T>GCA345144091ACTA1c.1047A>C (p.Lys349Asn)
c.990A>C (p.Lys330Asn)
c.756A>C (p.Lys252Asn)
c.1125A>C (p.Lys375Asn)
 ClinVar
1g.229431508T=CA1141859131ACTA1c.1047A= (p.Lys349=)
c.990A= (p.Lys330=)
c.756A= (p.Lys252=)
c.1125A= (p.Lys375=)
1g.229431509T>ACA345144093ACTA1c.1046A>T (p.Lys349Ile)
c.989A>T (p.Lys330Ile)
c.755A>T (p.Lys252Ile)
c.1124A>T (p.Lys375Ile)
1g.229431509T>CCA345144095ACTA1c.1046A>G (p.Lys349Arg)
c.989A>G (p.Lys330Arg)
c.755A>G (p.Lys252Arg)
c.1124A>G (p.Lys375Arg)
1g.229431509T>GCA345144097ACTA1c.1046A>C (p.Lys349Thr)
c.989A>C (p.Lys330Thr)
c.755A>C (p.Lys252Thr)
c.1124A>C (p.Lys375Thr)
1g.229431510T>ACA345144101ACTA1c.1045A>T (p.Lys349Ter)
c.988A>T (p.Lys330Ter)
c.754A>T (p.Lys252Ter)
c.1123A>T (p.Lys375Ter)
1g.229431510T>CCA345144104ACTA1c.1045A>G (p.Lys349Glu)
c.988A>G (p.Lys330Glu)
c.754A>G (p.Lys252Glu)
c.1123A>G (p.Lys375Glu)
 ClinVar dbSNP
1g.229431510T>GCA345144106ACTA1c.1045A>C (p.Lys349Gln)
c.988A>C (p.Lys330Gln)
c.754A>C (p.Lys252Gln)
c.1123A>C (p.Lys375Gln)
1g.229431510T=CA1226125362ACTA1c.1045A= (p.Lys349=)
c.988A= (p.Lys330=)
c.754A= (p.Lys252=)
c.1123A= (p.Lys375=)
1g.229431510_229431534delCA645538675ACTA1c.1021_1045del (p.Ala341AsnfsTer?)
c.964_988del (p.Ala322AsnfsTer?)
c.730_754del (p.Ala244AsnfsTer?)
c.1099_1123del (p.Ala367AsnfsTer?)
 COSMIC
1g.229431511G>ACA423754786ACTA1c.1044C>T (p.Arg348=)
c.987C>T (p.Arg329=)
c.753C>T (p.Arg251=)
c.1122C>T (p.Arg374=)
 dbSNP gnomAD v3 gnomAD v4
1g.229431511G>CCA423754787ACTA1c.1044C>G (p.Arg348=)
c.987C>G (p.Arg329=)
c.753C>G (p.Arg251=)
c.1122C>G (p.Arg374=)
1g.229431511G=CA1226125363ACTA1c.1044C= (p.Arg348=)
c.987C= (p.Arg329=)
c.753C= (p.Arg251=)
c.1122C= (p.Arg374=)
1g.229431511G>TCA423754788ACTA1c.1044C>A (p.Arg348=)
c.987C>A (p.Arg329=)
c.753C>A (p.Arg251=)
c.1122C>A (p.Arg374=)
1g.229431512C>ACA345144114ACTA1c.1043G>T (p.Arg348Leu)
c.986G>T (p.Arg329Leu)
c.752G>T (p.Arg251Leu)
c.1121G>T (p.Arg374Leu)
1g.229431512C>GCA345144109ACTA1c.1043G>C (p.Arg348Pro)
c.986G>C (p.Arg329Pro)
c.752G>C (p.Arg251Pro)
c.1121G>C (p.Arg374Pro)
1g.229431512C>TCA345144111ACTA1c.1043G>A (p.Arg348His)
c.986G>A (p.Arg329His)
c.752G>A (p.Arg251His)
c.1121G>A (p.Arg374His)
1g.229431513G>ACA345144117ACTA1c.1042C>T (p.Arg348Cys)
c.985C>T (p.Arg329Cys)
c.751C>T (p.Arg251Cys)
c.1120C>T (p.Arg374Cys)
1g.229431513G>CCA345144120ACTA1c.1042C>G (p.Arg348Gly)
c.985C>G (p.Arg329Gly)
c.751C>G (p.Arg251Gly)
c.1120C>G (p.Arg374Gly)
1g.229431513G>TCA345144121ACTA1c.1042C>A (p.Arg348Ser)
c.985C>A (p.Arg329Ser)
c.751C>A (p.Arg251Ser)
c.1120C>A (p.Arg374Ser)
1g.229431514G>ACA423754789ACTA1c.1041C>T (p.His347=)
c.984C>T (p.His328=)
c.750C>T (p.His250=)
c.1119C>T (p.His373=)
1g.229431514G>CCA345144122ACTA1c.1041C>G (p.His347Gln)
c.984C>G (p.His328Gln)
c.750C>G (p.His250Gln)
c.1119C>G (p.His373Gln)
 ClinVar
1g.229431514G>TCA345144123ACTA1c.1041C>A (p.His347Gln)
c.984C>A (p.His328Gln)
c.750C>A (p.His250Gln)
c.1119C>A (p.His373Gln)
1g.229431515T>ACA345144126ACTA1c.1040A>T (p.His347Leu)
c.983A>T (p.His328Leu)
c.749A>T (p.His250Leu)
c.1118A>T (p.His373Leu)
1g.229431515T>CCA16609331ACTA1c.1040A>G (p.His347Arg)
c.983A>G (p.His328Arg)
c.749A>G (p.His250Arg)
c.1118A>G (p.His373Arg)
1g.229431515T>GCA345144124ACTA1c.1040A>C (p.His347Pro)
c.983A>C (p.His328Pro)
c.749A>C (p.His250Pro)
c.1118A>C (p.His373Pro)
1g.229431516G>ACA345144130ACTA1c.1039C>T (p.His347Tyr)
c.982C>T (p.His328Tyr)
c.748C>T (p.His250Tyr)
c.1117C>T (p.His373Tyr)
1g.229431516G>CCA345144134ACTA1c.1039C>G (p.His347Asp)
c.982C>G (p.His328Asp)
c.748C>G (p.His250Asp)
c.1117C>G (p.His373Asp)
1g.229431516G>TCA345144137ACTA1c.1039C>A (p.His347Asn)
c.982C>A (p.His328Asn)
c.748C>A (p.His250Asn)
c.1117C>A (p.His373Asn)
1g.229431517G>ACA423754790ACTA1c.1038C>T (p.Val346=)
c.981C>T (p.Val327=)
c.747C>T (p.Val249=)
c.1116C>T (p.Val372=)
1g.229431517G>CCA423754791ACTA1c.1038C>G (p.Val346=)
c.981C>G (p.Val327=)
c.747C>G (p.Val249=)
c.1116C>G (p.Val372=)
 dbSNP
1g.229431517G=CA1226125364ACTA1c.1038C= (p.Val346=)
c.981C= (p.Val327=)
c.747C= (p.Val249=)
c.1116C= (p.Val372=)
1g.229431517G>TCA423754792ACTA1c.1038C>A (p.Val346=)
c.981C>A (p.Val327=)
c.747C>A (p.Val249=)
c.1116C>A (p.Val372=)
1g.229431518A>CCA345144140ACTA1c.1037T>G (p.Val346Gly)
c.980T>G (p.Val327Gly)
c.746T>G (p.Val249Gly)
c.1115T>G (p.Val372Gly)
1g.229431518A>GCA345144144ACTA1c.1037T>C (p.Val346Ala)
c.980T>C (p.Val327Ala)
c.746T>C (p.Val249Ala)
c.1115T>C (p.Val372Ala)
1g.229431518A>TCA345144147ACTA1c.1037T>A (p.Val346Asp)
c.980T>A (p.Val327Asp)
c.746T>A (p.Val249Asp)
c.1115T>A (p.Val372Asp)
1g.229431519C>ACA345144152ACTA1c.1036G>T (p.Val346Phe)
c.979G>T (p.Val327Phe)
c.745G>T (p.Val249Phe)
c.1114G>T (p.Val372Phe)
1g.229431519C>GCA345144154ACTA1c.1036G>C (p.Val346Leu)
c.979G>C (p.Val327Leu)
c.745G>C (p.Val249Leu)
c.1114G>C (p.Val372Leu)
1g.229431519C>TCA345144157ACTA1c.1036G>A (p.Val346Ile)
c.979G>A (p.Val327Ile)
c.745G>A (p.Val249Ile)
c.1114G>A (p.Val372Ile)
1g.229431520G>ACA423754793ACTA1c.1035C>T (p.Ile345=)
c.978C>T (p.Ile326=)
c.744C>T (p.Ile248=)
c.1113C>T (p.Ile371=)
 dbSNP
1g.229431520G>CCA10609268ACTA1c.1035C>G (p.Ile345Met)
c.978C>G (p.Ile326Met)
c.744C>G (p.Ile248Met)
c.1113C>G (p.Ile371Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.229431520G=CA1226125365ACTA1c.1035C= (p.Ile345=)
c.978C= (p.Ile326=)
c.744C= (p.Ile248=)
c.1113C= (p.Ile371=)
1g.229431520G>TCA423754794ACTA1c.1035C>A (p.Ile345=)
c.978C>A (p.Ile326=)
c.744C>A (p.Ile248=)
c.1113C>A (p.Ile371=)
1g.229431521A=CA1226125366ACTA1c.1034T= (p.Ile345=)
c.977T= (p.Ile326=)
c.743T= (p.Ile248=)
c.1112T= (p.Ile371=)
1g.229431521A>CCA345144163ACTA1c.1034T>G (p.Ile345Ser)
c.977T>G (p.Ile326Ser)
c.743T>G (p.Ile248Ser)
c.1112T>G (p.Ile371Ser)
1g.229431521A>GCA345144165ACTA1c.1034T>C (p.Ile345Thr)
c.977T>C (p.Ile326Thr)
c.743T>C (p.Ile248Thr)
c.1112T>C (p.Ile371Thr)
 dbSNP
1g.229431521A>TCA345144170ACTA1c.1034T>A (p.Ile345Asn)
c.977T>A (p.Ile326Asn)
c.743T>A (p.Ile248Asn)
c.1112T>A (p.Ile371Asn)
1g.229431522T>ACA345144172ACTA1c.1033A>T (p.Ile345Phe)
c.976A>T (p.Ile326Phe)
c.742A>T (p.Ile248Phe)
c.1111A>T (p.Ile371Phe)
1g.229431522T>CCA345144178ACTA1c.1033A>G (p.Ile345Val)
c.976A>G (p.Ile326Val)
c.742A>G (p.Ile248Val)
c.1111A>G (p.Ile371Val)
1g.229431522T>GCA345144174ACTA1c.1033A>C (p.Ile345Leu)
c.976A>C (p.Ile326Leu)
c.742A>C (p.Ile248Leu)
c.1111A>C (p.Ile371Leu)
1g.229431523G>ACA423754799ACTA1c.1032C>T (p.Ser344=)
c.975C>T (p.Ser325=)
c.741C>T (p.Ser247=)
c.1110C>T (p.Ser370=)
1g.229431523G>CCA423754801ACTA1c.1032C>G (p.Ser344=)
c.975C>G (p.Ser325=)
c.741C>G (p.Ser247=)
c.1110C>G (p.Ser370=)
1g.229431523G>TCA423754802ACTA1c.1032C>A (p.Ser344=)
c.975C>A (p.Ser325=)
c.741C>A (p.Ser247=)
c.1110C>A (p.Ser370=)
1g.229431524G>ACA345144180ACTA1c.1031C>T (p.Ser344Phe)
c.974C>T (p.Ser325Phe)
c.740C>T (p.Ser247Phe)
c.1109C>T (p.Ser370Phe)
1g.229431524G>CCA345144186ACTA1c.1031C>G (p.Ser344Cys)
c.974C>G (p.Ser325Cys)
c.740C>G (p.Ser247Cys)
c.1109C>G (p.Ser370Cys)
1g.229431524G=CA1226125367ACTA1c.1031C= (p.Ser344=)
c.974C= (p.Ser325=)
c.740C= (p.Ser247=)
c.1109C= (p.Ser370=)
1g.229431524G>TCA345144188ACTA1c.1031C>A (p.Ser344Tyr)
c.974C>A (p.Ser325Tyr)
c.740C>A (p.Ser247Tyr)
c.1109C>A (p.Ser370Tyr)
 ClinVar dbSNP COSMIC
1g.229431525A>CCA345144192ACTA1c.1030T>G (p.Ser344Ala)
c.973T>G (p.Ser325Ala)
c.739T>G (p.Ser247Ala)
c.1108T>G (p.Ser370Ala)
1g.229431525A>GCA345144194ACTA1c.1030T>C (p.Ser344Pro)
c.973T>C (p.Ser325Pro)
c.739T>C (p.Ser247Pro)
c.1108T>C (p.Ser370Pro)
1g.229431525A>TCA345144196ACTA1c.1030T>A (p.Ser344Thr)
c.973T>A (p.Ser325Thr)
c.739T>A (p.Ser247Thr)
c.1108T>A (p.Ser370Thr)
1g.229431526A=CA1226125368ACTA1c.1029T= (p.Pro343=)
c.972T= (p.Pro324=)
c.738T= (p.Pro246=)
c.1107T= (p.Pro369=)
1g.229431526A>CCA1442704ACTA1c.1029T>G (p.Pro343=)
c.972T>G (p.Pro324=)
c.738T>G (p.Pro246=)
c.1107T>G (p.Pro369=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431526A>GCA423754803ACTA1c.1029T>C (p.Pro343=)
c.972T>C (p.Pro324=)
c.738T>C (p.Pro246=)
c.1107T>C (p.Pro369=)
 dbSNP
1g.229431526A>TCA423754804ACTA1c.1029T>A (p.Pro343=)
c.972T>A (p.Pro324=)
c.738T>A (p.Pro246=)
c.1107T>A (p.Pro369=)
1g.229431527G>ACA345144203ACTA1c.1028C>T (p.Pro343Leu)
c.971C>T (p.Pro324Leu)
c.737C>T (p.Pro246Leu)
c.1106C>T (p.Pro369Leu)
 ClinVar dbSNP
1g.229431527G>CCA345144212ACTA1c.1028C>G (p.Pro343Arg)
c.971C>G (p.Pro324Arg)
c.737C>G (p.Pro246Arg)
c.1106C>G (p.Pro369Arg)
1g.229431527G=CA1226125369ACTA1c.1028C= (p.Pro343=)
c.971C= (p.Pro324=)
c.737C= (p.Pro246=)
c.1106C= (p.Pro369=)
1g.229431527G>TCA345144215ACTA1c.1028C>A (p.Pro343His)
c.971C>A (p.Pro324His)
c.737C>A (p.Pro246His)
c.1106C>A (p.Pro369His)
 ClinVar
1g.229431528G>ACA345144216ACTA1c.1027C>T (p.Pro343Ser)
c.970C>T (p.Pro324Ser)
c.736C>T (p.Pro246Ser)
c.1105C>T (p.Pro369Ser)
1g.229431528G>CCA345144217ACTA1c.1027C>G (p.Pro343Ala)
c.970C>G (p.Pro324Ala)
c.736C>G (p.Pro246Ala)
c.1105C>G (p.Pro369Ala)
1g.229431528G>TCA345144218ACTA1c.1027C>A (p.Pro343Thr)
c.970C>A (p.Pro324Thr)
c.736C>A (p.Pro246Thr)
c.1105C>A (p.Pro369Thr)
1g.229431529G>ACA1442705ACTA1c.1026C>T (p.Gly342=)
c.969C>T (p.Gly323=)
c.735C>T (p.Gly245=)
c.1104C>T (p.Gly368=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431529G>CCA423754807ACTA1c.1026C>G (p.Gly342=)
c.969C>G (p.Gly323=)
c.735C>G (p.Gly245=)
c.1104C>G (p.Gly368=)
 dbSNP
1g.229431529G=CA1226125370ACTA1c.1026C= (p.Gly342=)
c.969C= (p.Gly323=)
c.735C= (p.Gly245=)
c.1104C= (p.Gly368=)
1g.229431529G>TCA423754806ACTA1c.1026C>A (p.Gly342=)
c.969C>A (p.Gly323=)
c.735C>A (p.Gly245=)
c.1104C>A (p.Gly368=)
1g.229431530C>ACA345144221ACTA1c.1025G>T (p.Gly342Val)
c.968G>T (p.Gly323Val)
c.734G>T (p.Gly245Val)
c.1103G>T (p.Gly368Val)
1g.229431530C>GCA345144224ACTA1c.1025G>C (p.Gly342Ala)
c.968G>C (p.Gly323Ala)
c.734G>C (p.Gly245Ala)
c.1103G>C (p.Gly368Ala)
 COSMIC
1g.229431530C>TCA345144226ACTA1c.1025G>A (p.Gly342Asp)
c.968G>A (p.Gly323Asp)
c.734G>A (p.Gly245Asp)
c.1103G>A (p.Gly368Asp)
1g.229431531C>ACA345144227ACTA1c.1024G>T (p.Gly342Cys)
c.967G>T (p.Gly323Cys)
c.733G>T (p.Gly245Cys)
c.1102G>T (p.Gly368Cys)
1g.229431531C>GCA345144229ACTA1c.1024G>C (p.Gly342Arg)
c.967G>C (p.Gly323Arg)
c.733G>C (p.Gly245Arg)
c.1102G>C (p.Gly368Arg)
1g.229431531C>TCA345144231ACTA1c.1024G>A (p.Gly342Ser)
c.967G>A (p.Gly323Ser)
c.733G>A (p.Gly245Ser)
c.1102G>A (p.Gly368Ser)
 COSMIC
1g.229431532G>ACA1442706ACTA1c.1023C>T (p.Ala341=)
c.966C>T (p.Ala322=)
c.732C>T (p.Ala244=)
c.1101C>T (p.Ala367=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.229431532G>CCA423754809ACTA1c.1023C>G (p.Ala341=)
c.966C>G (p.Ala322=)
c.732C>G (p.Ala244=)
c.1101C>G (p.Ala367=)
1g.229431532G=CA1226125371ACTA1c.1023C= (p.Ala341=)
c.966C= (p.Ala322=)
c.732C= (p.Ala244=)
c.1101C= (p.Ala367=)
1g.229431532G>TCA423754808ACTA1c.1023C>A (p.Ala341=)
c.966C>A (p.Ala322=)
c.732C>A (p.Ala244=)
c.1101C>A (p.Ala367=)
1g.229431533G>ACA345144235ACTA1c.1022C>T (p.Ala341Val)
c.965C>T (p.Ala322Val)
c.731C>T (p.Ala244Val)
c.1100C>T (p.Ala367Val)
 dbSNP gnomAD v2 gnomAD v4
1g.229431533G>CCA345144238ACTA1c.1022C>G (p.Ala341Gly)
c.965C>G (p.Ala322Gly)
c.731C>G (p.Ala244Gly)
c.1100C>G (p.Ala367Gly)
1g.229431533G=CA1226125372ACTA1c.1022C= (p.Ala341=)
c.965C= (p.Ala322=)
c.731C= (p.Ala244=)
c.1100C= (p.Ala367=)
1g.229431533G>TCA345144241ACTA1c.1022C>A (p.Ala341Asp)
c.965C>A (p.Ala322Asp)
c.731C>A (p.Ala244Asp)
c.1100C>A (p.Ala367Asp)
1g.229431534C>ACA345144244ACTA1c.1021G>T (p.Ala341Ser)
c.964G>T (p.Ala322Ser)
c.730G>T (p.Ala244Ser)
c.1099G>T (p.Ala367Ser)
 COSMIC
1g.229431534C=CA1226125373ACTA1c.1021G= (p.Ala341=)
c.964G= (p.Ala322=)
c.730G= (p.Ala244=)
c.1099G= (p.Ala367=)
1g.229431534C>GCA345144245ACTA1c.1021G>C (p.Ala341Pro)
c.964G>C (p.Ala322Pro)
c.730G>C (p.Ala244Pro)
c.1099G>C (p.Ala367Pro)
1g.229431534C>TCA345144246ACTA1c.1021G>A (p.Ala341Thr)
c.964G>A (p.Ala322Thr)
c.730G>A (p.Ala244Thr)
c.1099G>A (p.Ala367Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.229431535C>ACA345144250ACTA1c.1020G>T (p.Glu340Asp)
c.963G>T (p.Glu321Asp)
c.729G>T (p.Glu243Asp)
c.1098G>T (p.Glu366Asp)
1g.229431535C=CA1226125374ACTA1c.1020G= (p.Glu340=)
c.963G= (p.Glu321=)
c.729G= (p.Glu243=)
c.1098G= (p.Glu366=)
1g.229431535C>GCA345144253ACTA1c.1020G>C (p.Glu340Asp)
c.963G>C (p.Glu321Asp)
c.729G>C (p.Glu243Asp)
c.1098G>C (p.Glu366Asp)
1g.229431535C>TCA423754814ACTA1c.1020G>A (p.Glu340=)
c.963G>A (p.Glu321=)
c.729G>A (p.Glu243=)
c.1098G>A (p.Glu366=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431536T>ACA345144256ACTA1c.1019A>T (p.Glu340Val)
c.962A>T (p.Glu321Val)
c.728A>T (p.Glu243Val)
c.1097A>T (p.Glu366Val)
1g.229431536T>CCA345144260ACTA1c.1019A>G (p.Glu340Gly)
c.962A>G (p.Glu321Gly)
c.728A>G (p.Glu243Gly)
c.1097A>G (p.Glu366Gly)
1g.229431536T>GCA345144258ACTA1c.1019A>C (p.Glu340Ala)
c.962A>C (p.Glu321Ala)
c.728A>C (p.Glu243Ala)
c.1097A>C (p.Glu366Ala)
1g.229431537C>ACA345144265ACTA1c.1018G>T (p.Glu340Ter)
c.961G>T (p.Glu321Ter)
c.727G>T (p.Glu243Ter)
c.1096G>T (p.Glu366Ter)
1g.229431537C>GCA345144268ACTA1c.1018G>C (p.Glu340Gln)
c.961G>C (p.Glu321Gln)
c.727G>C (p.Glu243Gln)
c.1096G>C (p.Glu366Gln)
1g.229431537C>TCA345144270ACTA1c.1018G>A (p.Glu340Lys)
c.961G>A (p.Glu321Lys)
c.727G>A (p.Glu243Lys)
c.1096G>A (p.Glu366Lys)
1g.229431538G>ACA1442708ACTA1c.1017C>T (p.Asp339=)
c.960C>T (p.Asp320=)
c.726C>T (p.Asp242=)
c.1095C>T (p.Asp365=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431538G>CCA1442707ACTA1c.1017C>G (p.Asp339Glu)
c.960C>G (p.Asp320Glu)
c.726C>G (p.Asp242Glu)
c.1095C>G (p.Asp365Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431538G=CA1143959170ACTA1c.1017C= (p.Asp339=)
c.960C= (p.Asp320=)
c.726C= (p.Asp242=)
c.1095C= (p.Asp365=)
1g.229431538G>TCA345144280ACTA1c.1017C>A (p.Asp339Glu)
c.960C>A (p.Asp320Glu)
c.726C>A (p.Asp242Glu)
c.1095C>A (p.Asp365Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.229431539T>ACA345144283ACTA1c.1016A>T (p.Asp339Val)
c.959A>T (p.Asp320Val)
c.725A>T (p.Asp242Val)
c.1094A>T (p.Asp365Val)
1g.229431539T>CCA345144285ACTA1c.1016A>G (p.Asp339Gly)
c.959A>G (p.Asp320Gly)
c.725A>G (p.Asp242Gly)
c.1094A>G (p.Asp365Gly)
1g.229431539T>GCA345144287ACTA1c.1016A>C (p.Asp339Ala)
c.959A>C (p.Asp320Ala)
c.725A>C (p.Asp242Ala)
c.1094A>C (p.Asp365Ala)
1g.229431540delCA2698259255ACTA1c.1015del (p.Asp339ThrfsTer?)
c.958del (p.Asp320ThrfsTer?)
c.724del (p.Asp242ThrfsTer?)
c.1093del (p.Asp365ThrfsTer?)
 dbSNP
1g.229431540C>ACA345144291ACTA1c.1015G>T (p.Asp339Tyr)
c.958G>T (p.Asp320Tyr)
c.724G>T (p.Asp242Tyr)
c.1093G>T (p.Asp365Tyr)
1g.229431540C>GCA345144294ACTA1c.1015G>C (p.Asp339His)
c.958G>C (p.Asp320His)
c.724G>C (p.Asp242His)
c.1093G>C (p.Asp365His)
1g.229431540C>TCA345144297ACTA1c.1015G>A (p.Asp339Asn)
c.958G>A (p.Asp320Asn)
c.724G>A (p.Asp242Asn)
c.1093G>A (p.Asp365Asn)
1g.229431540dupCA2650926579ACTA1c.1015dup (p.Asp339GlyfsTer?)
c.958dup (p.Asp320GlyfsTer?)
c.724dup (p.Asp242GlyfsTer?)
c.1093dup (p.Asp365GlyfsTer?)
 gnomAD v4
1g.229431541delCA915940544ACTA1c.1014del (p.Tyr338Ter)
c.957del (p.Tyr319Ter)
c.723del (p.Tyr241Ter)
c.1092del (p.Tyr364Ter)
1g.229431541G>ACA38814650ACTA1c.1014C>T (p.Tyr338=)
c.957C>T (p.Tyr319=)
c.723C>T (p.Tyr241=)
c.1092C>T (p.Tyr364=)
 dbSNP gnomAD v4
1g.229431541G>CCA345144302ACTA1c.1014C>G (p.Tyr338Ter)
c.957C>G (p.Tyr319Ter)
c.723C>G (p.Tyr241Ter)
c.1092C>G (p.Tyr364Ter)
 dbSNP
1g.229431541G=CA1226125375ACTA1c.1014C= (p.Tyr338=)
c.957C= (p.Tyr319=)
c.723C= (p.Tyr241=)
c.1092C= (p.Tyr364=)
1g.229431541G>TCA345144306ACTA1c.1014C>A (p.Tyr338Ter)
c.957C>A (p.Tyr319Ter)
c.723C>A (p.Tyr241Ter)
c.1092C>A (p.Tyr364Ter)
1g.229431542T>ACA345144311ACTA1c.1013A>T (p.Tyr338Phe)
c.956A>T (p.Tyr319Phe)
c.722A>T (p.Tyr241Phe)
c.1091A>T (p.Tyr364Phe)
1g.229431542T>CCA345144314ACTA1c.1013A>G (p.Tyr338Cys)
c.956A>G (p.Tyr319Cys)
c.722A>G (p.Tyr241Cys)
c.1091A>G (p.Tyr364Cys)
1g.229431542T>GCA345144316ACTA1c.1013A>C (p.Tyr338Ser)
c.956A>C (p.Tyr319Ser)
c.722A>C (p.Tyr241Ser)
c.1091A>C (p.Tyr364Ser)
1g.229431543A>CCA345144320ACTA1c.1012T>G (p.Tyr338Asp)
c.955T>G (p.Tyr319Asp)
c.721T>G (p.Tyr241Asp)
c.1090T>G (p.Tyr364Asp)
1g.229431543A>GCA345144322ACTA1c.1012T>C (p.Tyr338His)
c.955T>C (p.Tyr319His)
c.721T>C (p.Tyr241His)
c.1090T>C (p.Tyr364His)
1g.229431543A>TCA345144330ACTA1c.1012T>A (p.Tyr338Asn)
c.955T>A (p.Tyr319Asn)
c.721T>A (p.Tyr241Asn)
c.1090T>A (p.Tyr364Asn)
1g.229431544C>ACA345144336ACTA1c.1011G>T (p.Glu337Asp)
c.954G>T (p.Glu318Asp)
c.720G>T (p.Glu240Asp)
c.1089G>T (p.Glu363Asp)
1g.229431544C>GCA345144338ACTA1c.1011G>C (p.Glu337Asp)
c.954G>C (p.Glu318Asp)
c.720G>C (p.Glu240Asp)
c.1089G>C (p.Glu363Asp)
1g.229431544C>TCA423754830ACTA1c.1011G>A (p.Glu337=)
c.954G>A (p.Glu318=)
c.720G>A (p.Glu240=)
c.1089G>A (p.Glu363=)
1g.229431545T>ACA345144342ACTA1c.1010A>T (p.Glu337Val)
c.953A>T (p.Glu318Val)
c.719A>T (p.Glu240Val)
c.1088A>T (p.Glu363Val)
1g.229431545T>CCA345144343ACTA1c.1010A>G (p.Glu337Gly)
c.953A>G (p.Glu318Gly)
c.719A>G (p.Glu240Gly)
c.1088A>G (p.Glu363Gly)
 gnomAD v4
1g.229431545T>GCA345144345ACTA1c.1010A>C (p.Glu337Ala)
c.953A>C (p.Glu318Ala)
c.719A>C (p.Glu240Ala)
c.1088A>C (p.Glu363Ala)
 gnomAD v4
1g.229431546C>ACA345144352ACTA1c.1009G>T (p.Glu337Ter)
c.952G>T (p.Glu318Ter)
c.718G>T (p.Glu240Ter)
c.1087G>T (p.Glu363Ter)
1g.229431546C>GCA345144353ACTA1c.1009G>C (p.Glu337Gln)
c.952G>C (p.Glu318Gln)
c.718G>C (p.Glu240Gln)
c.1087G>C (p.Glu363Gln)
1g.229431546C>TCA345144350ACTA1c.1009G>A (p.Glu337Lys)
c.952G>A (p.Glu318Lys)
c.718G>A (p.Glu240Lys)
c.1087G>A (p.Glu363Lys)
1g.229431547C>ACA345144356ACTA1c.1008G>T (p.Gln336His)
c.951G>T (p.Gln317His)
c.717G>T (p.Gln239His)
c.1086G>T (p.Gln362His)
1g.229431547C>GCA345144359ACTA1c.1008G>C (p.Gln336His)
c.951G>C (p.Gln317His)
c.717G>C (p.Gln239His)
c.1086G>C (p.Gln362His)
1g.229431547C>TCA423754835ACTA1c.1008G>A (p.Gln336=)
c.951G>A (p.Gln317=)
c.717G>A (p.Gln239=)
c.1086G>A (p.Gln362=)
 gnomAD v4
1g.229431548T>ACA345144361ACTA1c.1007A>T (p.Gln336Leu)
c.950A>T (p.Gln317Leu)
c.716A>T (p.Gln239Leu)
c.1085A>T (p.Gln362Leu)
1g.229431548T>CCA345144362ACTA1c.1007A>G (p.Gln336Arg)
c.950A>G (p.Gln317Arg)
c.716A>G (p.Gln239Arg)
c.1085A>G (p.Gln362Arg)
1g.229431548T>GCA345144365ACTA1c.1007A>C (p.Gln336Pro)
c.950A>C (p.Gln317Pro)
c.716A>C (p.Gln239Pro)
c.1085A>C (p.Gln362Pro)
1g.229431549G>ACA345144370ACTA1c.1006C>T (p.Gln336Ter)
c.949C>T (p.Gln317Ter)
c.715C>T (p.Gln239Ter)
c.1084C>T (p.Gln362Ter)
1g.229431549G>CCA345144374ACTA1c.1006C>G (p.Gln336Glu)
c.949C>G (p.Gln317Glu)
c.715C>G (p.Gln239Glu)
c.1084C>G (p.Gln362Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.229431549G=CA1226125376ACTA1c.1006C= (p.Gln336=)
c.949C= (p.Gln317=)
c.715C= (p.Gln239=)
c.1084C= (p.Gln362=)
1g.229431549G>TCA345144377ACTA1c.1006C>A (p.Gln336Lys)
c.949C>A (p.Gln317Lys)
c.715C>A (p.Gln239Lys)
c.1084C>A (p.Gln362Lys)
1g.229431550C>ACA345144380ACTA1c.1005G>T (p.Lys335Asn)
c.948G>T (p.Lys316Asn)
c.714G>T (p.Lys238Asn)
c.1083G>T (p.Lys361Asn)
1g.229431550C=CA1226125377ACTA1c.1005G= (p.Lys335=)
c.948G= (p.Lys316=)
c.714G= (p.Lys238=)
c.1083G= (p.Lys361=)
1g.229431550C>GCA345144384ACTA1c.1005G>C (p.Lys335Asn)
c.948G>C (p.Lys316Asn)
c.714G>C (p.Lys238Asn)
c.1083G>C (p.Lys361Asn)
1g.229431550C>TCA423754841ACTA1c.1005G>A (p.Lys335=)
c.948G>A (p.Lys316=)
c.714G>A (p.Lys238=)
c.1083G>A (p.Lys361=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431551T>ACA345144388ACTA1c.1004A>T (p.Lys335Met)
c.947A>T (p.Lys316Met)
c.713A>T (p.Lys238Met)
c.1082A>T (p.Lys361Met)
1g.229431551T>CCA1442709ACTA1c.1004A>G (p.Lys335Arg)
c.947A>G (p.Lys316Arg)
c.713A>G (p.Lys238Arg)
c.1082A>G (p.Lys361Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431551T>GCA345144392ACTA1c.1004A>C (p.Lys335Thr)
c.947A>C (p.Lys316Thr)
c.713A>C (p.Lys238Thr)
c.1082A>C (p.Lys361Thr)
1g.229431551T=CA1226125378ACTA1c.1004A= (p.Lys335=)
c.947A= (p.Lys316=)
c.713A= (p.Lys238=)
c.1082A= (p.Lys361=)
1g.229431552T>ACA345144404ACTA1c.1003A>T (p.Lys335Ter)
c.946A>T (p.Lys316Ter)
c.712A>T (p.Lys238Ter)
c.1081A>T (p.Lys361Ter)
1g.229431552T>CCA345144399ACTA1c.1003A>G (p.Lys335Glu)
c.946A>G (p.Lys316Glu)
c.712A>G (p.Lys238Glu)
c.1081A>G (p.Lys361Glu)
1g.229431552T>GCA345144398ACTA1c.1003A>C (p.Lys335Gln)
c.946A>C (p.Lys316Gln)
c.712A>C (p.Lys238Gln)
c.1081A>C (p.Lys361Gln)
1g.229431553G>ACA423754795ACTA1c.1002C>T (p.Thr334=)
c.945C>T (p.Thr315=)
c.711C>T (p.Thr237=)
c.1080C>T (p.Thr360=)
1g.229431553G>CCA423754796ACTA1c.1002C>G (p.Thr334=)
c.945C>G (p.Thr315=)
c.711C>G (p.Thr237=)
c.1080C>G (p.Thr360=)
1g.229431553G>TCA423754797ACTA1c.1002C>A (p.Thr334=)
c.945C>A (p.Thr315=)
c.711C>A (p.Thr237=)
c.1080C>A (p.Thr360=)
1g.229431554G>ACA345144407ACTA1c.1001C>T (p.Thr334Ile)
c.944C>T (p.Thr315Ile)
c.710C>T (p.Thr237Ile)
c.1079C>T (p.Thr360Ile)
1g.229431554G>CCA345144409ACTA1c.1001C>G (p.Thr334Ser)
c.944C>G (p.Thr315Ser)
c.710C>G (p.Thr237Ser)
c.1079C>G (p.Thr360Ser)
1g.229431554G>TCA345144412ACTA1c.1001C>A (p.Thr334Asn)
c.944C>A (p.Thr315Asn)
c.710C>A (p.Thr237Asn)
c.1079C>A (p.Thr360Asn)
1g.229431555T>ACA345144413ACTA1c.1000A>T (p.Thr334Ser)
c.943A>T (p.Thr315Ser)
c.709A>T (p.Thr237Ser)
c.1078A>T (p.Thr360Ser)
 dbSNP
1g.229431555T>CCA345144414ACTA1c.1000A>G (p.Thr334Ala)
c.943A>G (p.Thr315Ala)
c.709A>G (p.Thr237Ala)
c.1078A>G (p.Thr360Ala)
1g.229431555T>GCA345144415ACTA1c.1000A>C (p.Thr334Pro)
c.943A>C (p.Thr315Pro)
c.709A>C (p.Thr237Pro)
c.1078A>C (p.Thr360Pro)
1g.229431555T=CA1226125379ACTA1c.1000A= (p.Thr334=)
c.943A= (p.Thr315=)
c.709A= (p.Thr237=)
c.1078A= (p.Thr360=)
1g.229431556G>ACA423754798ACTA1c.999C>T (p.Ile333=)
c.942C>T (p.Ile314=)
c.708C>T (p.Ile236=)
c.1077C>T (p.Ile359=)
1g.229431556G>CCA345144417ACTA1c.999C>G (p.Ile333Met)
c.942C>G (p.Ile314Met)
c.708C>G (p.Ile236Met)
c.1077C>G (p.Ile359Met)
1g.229431556G>TCA423754800ACTA1c.999C>A (p.Ile333=)
c.942C>A (p.Ile314=)
c.708C>A (p.Ile236=)
c.1077C>A (p.Ile359=)
1g.229431557A>CCA345144421ACTA1c.998T>G (p.Ile333Ser)
c.941T>G (p.Ile314Ser)
c.707T>G (p.Ile236Ser)
c.1076T>G (p.Ile359Ser)
1g.229431557A>GCA345144423ACTA1c.998T>C (p.Ile333Thr)
c.941T>C (p.Ile314Thr)
c.707T>C (p.Ile236Thr)
c.1076T>C (p.Ile359Thr)
1g.229431557A>TCA345144426ACTA1c.998T>A (p.Ile333Asn)
c.941T>A (p.Ile314Asn)
c.707T>A (p.Ile236Asn)
c.1076T>A (p.Ile359Asn)
1g.229431558T>ACA345144427ACTA1c.997A>T (p.Ile333Phe)
c.940A>T (p.Ile314Phe)
c.706A>T (p.Ile236Phe)
c.1075A>T (p.Ile359Phe)
1g.229431558T>CCA345144440ACTA1c.997A>G (p.Ile333Val)
c.940A>G (p.Ile314Val)
c.706A>G (p.Ile236Val)
c.1075A>G (p.Ile359Val)
 ClinVar
1g.229431558T>GCA258138ACTA1c.997A>C (p.Ile333Leu)
c.940A>C (p.Ile314Leu)
c.706A>C (p.Ile236Leu)
c.1075A>C (p.Ile359Leu)
 ClinVar dbSNP
1g.229431558T=CA1141581370ACTA1c.997A= (p.Ile333=)
c.940A= (p.Ile314=)
c.706A= (p.Ile236=)
c.1075A= (p.Ile359=)
1g.229431559C>ACA269775ACTA1c.996G>T (p.Trp332Cys)
c.939G>T (p.Trp313Cys)
c.705G>T (p.Trp235Cys)
c.1074G>T (p.Trp358Cys)
 ClinVar dbSNP
1g.229431559C=CA1148225031ACTA1c.996G= (p.Trp332=)
c.939G= (p.Trp313=)
c.705G= (p.Trp235=)
c.1074G= (p.Trp358=)
1g.229431559C>GCA345144451ACTA1c.996G>C (p.Trp332Cys)
c.939G>C (p.Trp313Cys)
c.705G>C (p.Trp235Cys)
c.1074G>C (p.Trp358Cys)
1g.229431559C>TCA345144447ACTA1c.996G>A (p.Trp332Ter)
c.939G>A (p.Trp313Ter)
c.705G>A (p.Trp235Ter)
c.1074G>A (p.Trp358Ter)
1g.229431560C>ACA345144454ACTA1c.995G>T (p.Trp332Leu)
c.938G>T (p.Trp313Leu)
c.704G>T (p.Trp235Leu)
c.1073G>T (p.Trp358Leu)
1g.229431560C>GCA345144460ACTA1c.995G>C (p.Trp332Ser)
c.938G>C (p.Trp313Ser)
c.704G>C (p.Trp235Ser)
c.1073G>C (p.Trp358Ser)
1g.229431560C>TCA345144456ACTA1c.995G>A (p.Trp332Ter)
c.938G>A (p.Trp313Ter)
c.704G>A (p.Trp235Ter)
c.1073G>A (p.Trp358Ter)
 gnomAD v4
1g.229431561A>CCA345144466ACTA1c.994T>G (p.Trp332Gly)
c.937T>G (p.Trp313Gly)
c.703T>G (p.Trp235Gly)
c.1072T>G (p.Trp358Gly)
1g.229431561A>GCA345144469ACTA1c.994T>C (p.Trp332Arg)
c.937T>C (p.Trp313Arg)
c.703T>C (p.Trp235Arg)
c.1072T>C (p.Trp358Arg)
1g.229431561A>TCA345144472ACTA1c.994T>A (p.Trp332Arg)
c.937T>A (p.Trp313Arg)
c.703T>A (p.Trp235Arg)
c.1072T>A (p.Trp358Arg)
1g.229431562C>ACA345144475ACTA1c.993G>T (p.Met331Ile)
c.936G>T (p.Met312Ile)
c.702G>T (p.Met234Ile)
c.1071G>T (p.Met357Ile)
1g.229431562C=CA1148239652ACTA1c.993G= (p.Met331=)
c.936G= (p.Met312=)
c.702G= (p.Met234=)
c.1071G= (p.Met357=)
1g.229431562C>GCA345144479ACTA1c.993G>C (p.Met331Ile)
c.936G>C (p.Met312Ile)
c.702G>C (p.Met234Ile)
c.1071G>C (p.Met357Ile)
 ClinVar dbSNP gnomAD v4
1g.229431562C>TCA1442710ACTA1c.993G>A (p.Met331Ile)
c.936G>A (p.Met312Ile)
c.702G>A (p.Met234Ile)
c.1071G>A (p.Met357Ile)
 dbSNP ExAC gnomAD v2
1g.229431563A=CA1147059542ACTA1c.992T= (p.Met331=)
c.935T= (p.Met312=)
c.701T= (p.Met234=)
c.1070T= (p.Met357=)
1g.229431563A>CCA345144484ACTA1c.992T>G (p.Met331Arg)
c.935T>G (p.Met312Arg)
c.701T>G (p.Met234Arg)
c.1070T>G (p.Met357Arg)
1g.229431563A>GCA1442711ACTA1c.992T>C (p.Met331Thr)
c.935T>C (p.Met312Thr)
c.701T>C (p.Met234Thr)
c.1070T>C (p.Met357Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3
1g.229431563A>TCA345144492ACTA1c.992T>A (p.Met331Lys)
c.935T>A (p.Met312Lys)
c.701T>A (p.Met234Lys)
c.1070T>A (p.Met357Lys)
1g.229431564T>ACA345144496ACTA1c.991A>T (p.Met331Leu)
c.934A>T (p.Met312Leu)
c.700A>T (p.Met234Leu)
c.1069A>T (p.Met357Leu)
1g.229431564T>CCA345144500ACTA1c.991A>G (p.Met331Val)
c.934A>G (p.Met312Val)
c.700A>G (p.Met234Val)
c.1069A>G (p.Met357Val)
 ClinVar dbSNP
1g.229431564T>GCA345144502ACTA1c.991A>C (p.Met331Leu)
c.934A>C (p.Met312Leu)
c.700A>C (p.Met234Leu)
c.1069A>C (p.Met357Leu)
1g.229431564T=CA1226125380ACTA1c.991A= (p.Met331=)
c.934A= (p.Met312=)
c.700A= (p.Met234=)
c.1069A= (p.Met357=)
1g.229431565C>ACA345144509ACTA1c.991-1G>T (n.991-1G>T)
c.933G>T (p.Gln311His)
c.699G>T (p.Gln233His)
c.1068G>T (p.Gln356His)
 dbSNP gnomAD v2 gnomAD v4
1g.229431565C=CA1226125381ACTA1c.991-1G= (n.991-1G=)
c.933G= (p.Gln311=)
c.699G= (p.Gln233=)
c.1068G= (p.Gln356=)
1g.229431565C>GCA345144505ACTA1c.991-1G>C (n.991-1G>C)
c.933G>C (p.Gln311His)
c.699G>C (p.Gln233His)
c.1068G>C (p.Gln356His)
1g.229431565C>TCA423754805ACTA1c.991-1G>A (n.991-1G>A)
c.933G>A (p.Gln311=)
c.699G>A (p.Gln233=)
c.1068G>A (p.Gln356=)
1g.229431566T>ACA345144513ACTA1c.991-2A>T (n.991-2A>T)
c.932A>T (p.Gln311Leu)
c.698A>T (p.Gln233Leu)
c.1067A>T (p.Gln356Leu)
1g.229431566T>CCA345144516ACTA1c.991-2A>G (n.991-2A>G)
c.932A>G (p.Gln311Arg)
c.698A>G (p.Gln233Arg)
c.1067A>G (p.Gln356Arg)
 dbSNP
1g.229431566T>GCA345144518ACTA1c.991-2A>C (n.991-2A>C)
c.932A>C (p.Gln311Pro)
c.698A>C (p.Gln233Pro)
c.1067A>C (p.Gln356Pro)
1g.229431566T=CA1226125382ACTA1c.991-2A= (n.991-2A=)
c.932A= (p.Gln311=)
c.698A= (p.Gln233=)
c.1067A= (p.Gln356=)
1g.229431567G>ACA345144523ACTA1c.991-3C>T (n.991-3C>T)
c.931C>T (p.Gln311Ter)
c.697C>T (p.Gln233Ter)
c.1066C>T (p.Gln356Ter)
1g.229431567G>CCA345144526ACTA1c.991-3C>G (n.991-3C>G)
c.931C>G (p.Gln311Glu)
c.697C>G (p.Gln233Glu)
c.1066C>G (p.Gln356Glu)
1g.229431567G>TCA345144528ACTA1c.991-3C>A (n.991-3C>A)
c.931C>A (p.Gln311Lys)
c.697C>A (p.Gln233Lys)
c.1066C>A (p.Gln356Lys)
1g.229431568C>ACA345144531ACTA1c.991-4G>T (n.991-4G>T)
c.930G>T (p.Gln310His)
c.696G>T (p.Gln232His)
c.1065G>T (p.Gln355His)
1g.229431568C=CA1144093655ACTA1c.991-4G= (n.991-4G=)
c.930G= (p.Gln310=)
c.696G= (p.Gln232=)
c.1065G= (p.Gln355=)
1g.229431568C>GCA345144535ACTA1c.991-4G>C (n.991-4G>C)
c.930G>C (p.Gln310His)
c.696G>C (p.Gln232His)
c.1065G>C (p.Gln355His)
1g.229431568C>TCA1442712ACTA1c.991-4G>A (n.991-4G>A)
c.930G>A (p.Gln310=)
c.696G>A (p.Gln232=)
c.1065G>A (p.Gln355=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431569T>ACA345144540ACTA1c.991-5A>T (n.991-5A>T)
c.929A>T (p.Gln310Leu)
c.695A>T (p.Gln232Leu)
c.1064A>T (p.Gln355Leu)
 dbSNP gnomAD v2
1g.229431569T>CCA345144542ACTA1c.991-5A>G (n.991-5A>G)
c.929A>G (p.Gln310Arg)
c.695A>G (p.Gln232Arg)
c.1064A>G (p.Gln355Arg)
1g.229431569T>GCA345144545ACTA1c.991-5A>C (n.991-5A>C)
c.929A>C (p.Gln310Pro)
c.695A>C (p.Gln232Pro)
c.1064A>C (p.Gln355Pro)
1g.229431569T=CA1226125383ACTA1c.991-5A= (n.991-5A=)
c.929A= (p.Gln310=)
c.695A= (p.Gln232=)
c.1064A= (p.Gln355=)
1g.229431570G>ACA345144548ACTA1c.991-6C>T (n.991-6C>T)
c.928C>T (p.Gln310Ter)
c.694C>T (p.Gln232Ter)
c.1063C>T (p.Gln355Ter)
1g.229431570G>CCA345144547ACTA1c.991-6C>G (n.991-6C>G)
c.928C>G (p.Gln310Glu)
c.694C>G (p.Gln232Glu)
c.1063C>G (p.Gln355Glu)
1g.229431570G=CA1226125384ACTA1c.991-6C= (n.991-6C=)
c.928C= (p.Gln310=)
c.694C= (p.Gln232=)
c.1063C= (p.Gln355=)
1g.229431570G>TCA345144546ACTA1c.991-6C>A (n.991-6C>A)
c.928C>A (p.Gln310Lys)
c.694C>A (p.Gln232Lys)
c.1063C>A (p.Gln355Lys)
 dbSNP gnomAD v2
1g.229431571G>ACA423754810ACTA1c.991-7C>T (n.991-7C>T)
c.927C>T (p.Phe309=)
c.693C>T (p.Phe231=)
c.1062C>T (p.Phe354=)
1g.229431571G>CCA345144551ACTA1c.991-7C>G (n.991-7C>G)
c.927C>G (p.Phe309Leu)
c.693C>G (p.Phe231Leu)
c.1062C>G (p.Phe354Leu)
1g.229431571G>TCA345144549ACTA1c.991-7C>A (n.991-7C>A)
c.927C>A (p.Phe309Leu)
c.693C>A (p.Phe231Leu)
c.1062C>A (p.Phe354Leu)
1g.229431572A>CCA345144553ACTA1c.991-8T>G (n.991-8T>G)
c.926T>G (p.Phe309Cys)
c.692T>G (p.Phe231Cys)
c.1061T>G (p.Phe354Cys)
1g.229431572A>GCA345144556ACTA1c.991-8T>C (n.991-8T>C)
c.926T>C (p.Phe309Ser)
c.692T>C (p.Phe231Ser)
c.1061T>C (p.Phe354Ser)
 ClinVar
1g.229431572A>TCA345144560ACTA1c.991-8T>A (n.991-8T>A)
c.926T>A (p.Phe309Tyr)
c.692T>A (p.Phe231Tyr)
c.1061T>A (p.Phe354Tyr)
1g.229431573A>CCA345144564ACTA1c.991-9T>G (n.991-9T>G)
c.925T>G (p.Phe309Val)
c.691T>G (p.Phe231Val)
c.1060T>G (p.Phe354Val)
1g.229431573A>GCA345144566ACTA1c.991-9T>C (n.991-9T>C)
c.925T>C (p.Phe309Leu)
c.691T>C (p.Phe231Leu)
c.1060T>C (p.Phe354Leu)
 ClinVar dbSNP
1g.229431573A>TCA345144568ACTA1c.991-9T>A (n.991-9T>A)
c.925T>A (p.Phe309Ile)
c.691T>A (p.Phe231Ile)
c.1060T>A (p.Phe354Ile)
1g.229431576_229431592delCA2573132002ACTA1c.991-25_991-9del (n.991-25_991-9del)
c.909_925del (p.Ala304ProfsTer?)
c.675_691del (p.Ala226ProfsTer?)
c.1044_1060del (p.Ala349ProfsTer?)
 ClinVar dbSNP
1g.229431574G>ACA423754811ACTA1c.991-10C>T (n.991-10C>T)
c.924C>T (p.Thr308=)
c.690C>T (p.Thr230=)
c.1059C>T (p.Thr353=)
1g.229431574G>CCA423754812ACTA1c.991-10C>G (n.991-10C>G)
c.924C>G (p.Thr308=)
c.690C>G (p.Thr230=)
c.1059C>G (p.Thr353=)
1g.229431574G>TCA423754813ACTA1c.991-10C>A (n.991-10C>A)
c.924C>A (p.Thr308=)
c.690C>A (p.Thr230=)
c.1059C>A (p.Thr353=)
1g.229431575G>ACA345144571ACTA1c.991-11C>T (n.991-11C>T)
c.923C>T (p.Thr308Ile)
c.689C>T (p.Thr230Ile)
c.1058C>T (p.Thr353Ile)
1g.229431575G>CCA345144575ACTA1c.991-11C>G (n.991-11C>G)
c.923C>G (p.Thr308Ser)
c.689C>G (p.Thr230Ser)
c.1058C>G (p.Thr353Ser)
1g.229431575G>TCA345144577ACTA1c.991-11C>A (n.991-11C>A)
c.923C>A (p.Thr308Asn)
c.689C>A (p.Thr230Asn)
c.1058C>A (p.Thr353Asn)
1g.229431576T>ACA345144578ACTA1c.991-12A>T (n.991-12A>T)
c.922A>T (p.Thr308Ser)
c.688A>T (p.Thr230Ser)
c.1057A>T (p.Thr353Ser)
1g.229431576T>CCA345144580ACTA1c.991-12A>G (n.991-12A>G)
c.922A>G (p.Thr308Ala)
c.688A>G (p.Thr230Ala)
c.1057A>G (p.Thr353Ala)
 ClinVar dbSNP
1g.229431576T>GCA345144582ACTA1c.991-12A>C (n.991-12A>C)
c.922A>C (p.Thr308Pro)
c.688A>C (p.Thr230Pro)
c.1057A>C (p.Thr353Pro)
1g.229431576T=CA1226125385ACTA1c.991-12A= (n.991-12A=)
c.922A= (p.Thr308=)
c.688A= (p.Thr230=)
c.1057A= (p.Thr353=)
1g.229431577G>ACA423754815ACTA1c.991-13C>T (n.991-13C>T)
c.921C>T (p.Ser307=)
c.687C>T (p.Ser229=)
c.1056C>T (p.Ser352=)
 dbSNP gnomAD v4
1g.229431577G>CCA423754817ACTA1c.991-13C>G (n.991-13C>G)
c.921C>G (p.Ser307=)
c.687C>G (p.Ser229=)
c.1056C>G (p.Ser352=)
1g.229431577G=CA1226125386ACTA1c.991-13C= (n.991-13C=)
c.921C= (p.Ser307=)
c.687C= (p.Ser229=)
c.1056C= (p.Ser352=)
1g.229431577G>TCA423754816ACTA1c.991-13C>A (n.991-13C>A)
c.921C>A (p.Ser307=)
c.687C>A (p.Ser229=)
c.1056C>A (p.Ser352=)
1g.229431577_229431578insTTTTTTAATCA1013145097ACTA1c.991-14_991-13insATTAAAAAA (n.991-14_991-13insATTAAAAAA)
c.920_921insATTAAAAAA (p.Ser307_Thr308insLeuLysAsn)
c.686_687insATTAAAAAA (p.Ser229_Thr230insLeuLysAsn)
c.1055_1056insATTAAAAAA (p.Ser352_Thr353insLeuLysAsn)
 gnomAD v3 gnomAD v4
1g.229431578G>ACA345144589ACTA1c.991-14C>T (n.991-14C>T)
c.920C>T (p.Ser307Phe)
c.686C>T (p.Ser229Phe)
c.1055C>T (p.Ser352Phe)
 ClinVar COSMIC
1g.229431578G>CCA345144585ACTA1c.991-14C>G (n.991-14C>G)
c.920C>G (p.Ser307Cys)
c.686C>G (p.Ser229Cys)
c.1055C>G (p.Ser352Cys)
1g.229431578G>TCA345144588ACTA1c.991-14C>A (n.991-14C>A)
c.920C>A (p.Ser307Tyr)
c.686C>A (p.Ser229Tyr)
c.1055C>A (p.Ser352Tyr)
1g.229431579A=CA1226125387ACTA1c.991-15T= (n.991-15T=)
c.919T= (p.Ser307=)
c.685T= (p.Ser229=)
c.1054T= (p.Ser352=)
1g.229431579A>CCA345144593ACTA1c.991-15T>G (n.991-15T>G)
c.919T>G (p.Ser307Ala)
c.685T>G (p.Ser229Ala)
c.1054T>G (p.Ser352Ala)
1g.229431579A>GCA345144596ACTA1c.991-15T>C (n.991-15T>C)
c.919T>C (p.Ser307Pro)
c.685T>C (p.Ser229Pro)
c.1054T>C (p.Ser352Pro)
 ClinVar dbSNP
1g.229431579A>TCA345144598ACTA1c.991-15T>A (n.991-15T>A)
c.919T>A (p.Ser307Thr)
c.685T>A (p.Ser229Thr)
c.1054T>A (p.Ser352Thr)
1g.229431579_229431580insTACA1013145101ACTA1c.991-15_991-14insAT (n.991-15_991-14insAT)
c.919_920insAT (p.Ser307TyrfsTer?)
c.685_686insAT (p.Ser229TyrfsTer?)
c.1054_1055insAT (p.Ser352TyrfsTer?)
 gnomAD v3 gnomAD v4
1g.229431580C>ACA423754820ACTA1c.991-16G>T (n.991-16G>T)
c.918G>T (p.Leu306=)
c.684G>T (p.Leu228=)
c.1053G>T (p.Leu351=)
1g.229431580C=CA1226125388ACTA1c.991-16G= (n.991-16G=)
c.918G= (p.Leu306=)
c.684G= (p.Leu228=)
c.1053G= (p.Leu351=)
1g.229431580C>GCA423754818ACTA1c.991-16G>C (n.991-16G>C)
c.918G>C (p.Leu306=)
c.684G>C (p.Leu228=)
c.1053G>C (p.Leu351=)
 dbSNP
1g.229431580C>TCA423754819ACTA1c.991-16G>A (n.991-16G>A)
c.918G>A (p.Leu306=)
c.684G>A (p.Leu228=)
c.1053G>A (p.Leu351=)
1g.229431581A>CCA345144601ACTA1c.991-17T>G (n.991-17T>G)
c.917T>G (p.Leu306Arg)
c.683T>G (p.Leu228Arg)
c.1052T>G (p.Leu351Arg)
1g.229431581A>GCA345144603ACTA1c.991-17T>C (n.991-17T>C)
c.917T>C (p.Leu306Pro)
c.683T>C (p.Leu228Pro)
c.1052T>C (p.Leu351Pro)
 gnomAD v3 gnomAD v4
1g.229431581A>TCA345144607ACTA1c.991-17T>A (n.991-17T>A)
c.917T>A (p.Leu306Gln)
c.683T>A (p.Leu228Gln)
c.1052T>A (p.Leu351Gln)
1g.229431582G>ACA423754821ACTA1c.991-18C>T (n.991-18C>T)
c.916C>T (p.Leu306=)
c.682C>T (p.Leu228=)
c.1051C>T (p.Leu351=)
 dbSNP gnomAD v4
1g.229431582G>CCA345144609ACTA1c.991-18C>G (n.991-18C>G)
c.916C>G (p.Leu306Val)
c.682C>G (p.Leu228Val)
c.1051C>G (p.Leu351Val)
1g.229431582G=CA1226125389ACTA1c.991-18C= (n.991-18C=)
c.916C= (p.Leu306=)
c.682C= (p.Leu228=)
c.1051C= (p.Leu351=)
1g.229431582G>TCA345144612ACTA1c.991-18C>A (n.991-18C>A)
c.916C>A (p.Leu306Met)
c.682C>A (p.Leu228Met)
c.1051C>A (p.Leu351Met)
1g.229431583C>ACA1442713ACTA1c.991-19G>T (n.991-19G>T)
c.915G>T (p.Ser305=)
c.681G>T (p.Ser227=)
c.1050G>T (p.Ser350=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431583C=CA1148416440ACTA1c.991-19G= (n.991-19G=)
c.915G= (p.Ser305=)
c.681G= (p.Ser227=)
c.1050G= (p.Ser350=)
1g.229431583C>GCA423754823ACTA1c.991-19G>C (n.991-19G>C)
c.915G>C (p.Ser305=)
c.681G>C (p.Ser227=)
c.1050G>C (p.Ser350=)
 dbSNP
1g.229431583C>TCA423754822ACTA1c.991-19G>A (n.991-19G>A)
c.915G>A (p.Ser305=)
c.681G>A (p.Ser227=)
c.1050G>A (p.Ser350=)
1g.229431584G>ACA345144616ACTA1c.991-20C>T (n.991-20C>T)
c.914C>T (p.Ser305Leu)
c.680C>T (p.Ser227Leu)
c.1049C>T (p.Ser350Leu)
 ClinVar dbSNP
1g.229431584G>CCA345144619ACTA1c.991-20C>G (n.991-20C>G)
c.914C>G (p.Ser305Trp)
c.680C>G (p.Ser227Trp)
c.1049C>G (p.Ser350Trp)
 ClinVar COSMIC
1g.229431584G>TCA345144622ACTA1c.991-20C>A (n.991-20C>A)
c.914C>A (p.Ser305Ter)
c.680C>A (p.Ser227Ter)
c.1049C>A (p.Ser350Ter)
1g.229431585A>CCA345144628ACTA1c.991-21T>G (n.991-21T>G)
c.913T>G (p.Ser305Ala)
c.679T>G (p.Ser227Ala)
c.1048T>G (p.Ser350Ala)
1g.229431585A>GCA345144631ACTA1c.991-21T>C (n.991-21T>C)
c.913T>C (p.Ser305Pro)
c.679T>C (p.Ser227Pro)
c.1048T>C (p.Ser350Pro)
1g.229431585A>TCA345144626ACTA1c.991-21T>A (n.991-21T>A)
c.913T>A (p.Ser305Thr)
c.679T>A (p.Ser227Thr)
c.1048T>A (p.Ser350Thr)
1g.229431586G>ACA423754824ACTA1c.991-22C>T (n.991-22C>T)
c.912C>T (p.Ala304=)
c.678C>T (p.Ala226=)
c.1047C>T (p.Ala349=)
 dbSNP
1g.229431586G>CCA423754825ACTA1c.991-22C>G (n.991-22C>G)
c.912C>G (p.Ala304=)
c.678C>G (p.Ala226=)
c.1047C>G (p.Ala349=)
1g.229431586G=CA1226125390ACTA1c.991-22C= (n.991-22C=)
c.912C= (p.Ala304=)
c.678C= (p.Ala226=)
c.1047C= (p.Ala349=)
1g.229431586G>TCA423754826ACTA1c.991-22C>A (n.991-22C>A)
c.912C>A (p.Ala304=)
c.678C>A (p.Ala226=)
c.1047C>A (p.Ala349=)
 dbSNP gnomAD v2
1g.229431586_229431587delCA1013145112ACTA1c.991-23_991-22del (n.991-23_991-22del)
c.911_912del (p.Ala304ValfsTer?)
c.677_678del (p.Ala226ValfsTer?)
c.1046_1047del (p.Ala349ValfsTer?)
 gnomAD v3 gnomAD v4
1g.229431587G>ACA345144633ACTA1c.991-23C>T (n.991-23C>T)
c.911C>T (p.Ala304Val)
c.677C>T (p.Ala226Val)
c.1046C>T (p.Ala349Val)
 ClinVar dbSNP
1g.229431587G>CCA345144639ACTA1c.991-23C>G (n.991-23C>G)
c.911C>G (p.Ala304Gly)
c.677C>G (p.Ala226Gly)
c.1046C>G (p.Ala349Gly)
1g.229431587G=CA1226125391ACTA1c.991-23C= (n.991-23C=)
c.911C= (p.Ala304=)
c.677C= (p.Ala226=)
c.1046C= (p.Ala349=)
1g.229431587G>TCA345144635ACTA1c.991-23C>A (n.991-23C>A)
c.911C>A (p.Ala304Asp)
c.677C>A (p.Ala226Asp)
c.1046C>A (p.Ala349Asp)
1g.229431588C>ACA345144642ACTA1c.991-24G>T (n.991-24G>T)
c.910G>T (p.Ala304Ser)
c.676G>T (p.Ala226Ser)
c.1045G>T (p.Ala349Ser)
1g.229431588C=CA1226125392ACTA1c.991-24G= (n.991-24G=)
c.910G= (p.Ala304=)
c.676G= (p.Ala226=)
c.1045G= (p.Ala349=)
1g.229431588C>GCA345144644ACTA1c.991-24G>C (n.991-24G>C)
c.910G>C (p.Ala304Pro)
c.676G>C (p.Ala226Pro)
c.1045G>C (p.Ala349Pro)
1g.229431588C>TCA345144647ACTA1c.991-24G>A (n.991-24G>A)
c.910G>A (p.Ala304Thr)
c.676G>A (p.Ala226Thr)
c.1045G>A (p.Ala349Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431589C>ACA423754827ACTA1c.991-25G>T (n.991-25G>T)
c.909G>T (p.Leu303=)
c.675G>T (p.Leu225=)
c.1044G>T (p.Leu348=)
 dbSNP
1g.229431589C=CA1226125393ACTA1c.991-25G= (n.991-25G=)
c.909G= (p.Leu303=)
c.675G= (p.Leu225=)
c.1044G= (p.Leu348=)
1g.229431589C>GCA423754828ACTA1c.991-25G>C (n.991-25G>C)
c.909G>C (p.Leu303=)
c.675G>C (p.Leu225=)
c.1044G>C (p.Leu348=)
1g.229431589C>TCA423754829ACTA1c.991-25G>A (n.991-25G>A)
c.909G>A (p.Leu303=)
c.675G>A (p.Leu225=)
c.1044G>A (p.Leu348=)
1g.229431590A>CCA345144650ACTA1c.991-26T>G (n.991-26T>G)
c.908T>G (p.Leu303Arg)
c.674T>G (p.Leu225Arg)
c.1043T>G (p.Leu348Arg)
1g.229431590A>GCA345144654ACTA1c.991-26T>C (n.991-26T>C)
c.908T>C (p.Leu303Pro)
c.674T>C (p.Leu225Pro)
c.1043T>C (p.Leu348Pro)
1g.229431590A>TCA345144656ACTA1c.991-26T>A (n.991-26T>A)
c.908T>A (p.Leu303Gln)
c.674T>A (p.Leu225Gln)
c.1043T>A (p.Leu348Gln)
 ClinVar dbSNP
1g.229431591G>ACA423754831ACTA1c.991-27C>T (n.991-27C>T)
c.907C>T (p.Leu303=)
c.673C>T (p.Leu225=)
c.1042C>T (p.Leu348=)
 dbSNP gnomAD v4
1g.229431591G>CCA345144659ACTA1c.991-27C>G (n.991-27C>G)
c.907C>G (p.Leu303Val)
c.673C>G (p.Leu225Val)
c.1042C>G (p.Leu348Val)
1g.229431591G=CA1226125394ACTA1c.991-27C= (n.991-27C=)
c.907C= (p.Leu303=)
c.673C= (p.Leu225=)
c.1042C= (p.Leu348=)
1g.229431591G>TCA345144661ACTA1c.991-27C>A (n.991-27C>A)
c.907C>A (p.Leu303Met)
c.673C>A (p.Leu225Met)
c.1042C>A (p.Leu348Met)
1g.229431591_229431598delCA1013145118ACTA1c.991-34_991-27del (n.991-34_991-27del)
c.900_907del (p.Ser301GlyfsTer?)
c.666_673del (p.Ser223GlyfsTer?)
c.1035_1042del (p.Ser346GlyfsTer?)
 gnomAD v3 gnomAD v4
1g.229431592G>ACA423754832ACTA1c.991-28C>T (n.991-28C>T)
c.906C>T (p.Ile302=)
c.672C>T (p.Ile224=)
c.1041C>T (p.Ile347=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431592G>CCA345144665ACTA1c.991-28C>G (n.991-28C>G)
c.906C>G (p.Ile302Met)
c.672C>G (p.Ile224Met)
c.1041C>G (p.Ile347Met)
1g.229431592G=CA1226125395ACTA1c.991-28C= (n.991-28C=)
c.906C= (p.Ile302=)
c.672C= (p.Ile224=)
c.1041C= (p.Ile347=)
1g.229431592G>TCA423754833ACTA1c.991-28C>A (n.991-28C>A)
c.906C>A (p.Ile302=)
c.672C>A (p.Ile224=)
c.1041C>A (p.Ile347=)
1g.229431593A>CCA345144669ACTA1c.991-29T>G (n.991-29T>G)
c.905T>G (p.Ile302Ser)
c.671T>G (p.Ile224Ser)
c.1040T>G (p.Ile347Ser)
1g.229431593A>GCA345144671ACTA1c.991-29T>C (n.991-29T>C)
c.905T>C (p.Ile302Thr)
c.671T>C (p.Ile224Thr)
c.1040T>C (p.Ile347Thr)
1g.229431593A>TCA345144674ACTA1c.991-29T>A (n.991-29T>A)
c.905T>A (p.Ile302Asn)
c.671T>A (p.Ile224Asn)
c.1040T>A (p.Ile347Asn)
1g.229431594T>ACA345144680ACTA1c.991-30A>T (n.991-30A>T)
c.904A>T (p.Ile302Phe)
c.670A>T (p.Ile224Phe)
c.1039A>T (p.Ile347Phe)
1g.229431594T>CCA345144684ACTA1c.991-30A>G (n.991-30A>G)
c.904A>G (p.Ile302Val)
c.670A>G (p.Ile224Val)
c.1039A>G (p.Ile347Val)
1g.229431594T>GCA345144683ACTA1c.991-30A>C (n.991-30A>C)
c.904A>C (p.Ile302Leu)
c.670A>C (p.Ile224Leu)
c.1039A>C (p.Ile347Leu)
1g.229431595G>ACA423754834ACTA1c.991-31C>T (n.991-31C>T)
c.903C>T (p.Ser301=)
c.669C>T (p.Ser223=)
c.1038C>T (p.Ser346=)
 gnomAD v4
1g.229431595G>CCA423754837ACTA1c.991-31C>G (n.991-31C>G)
c.903C>G (p.Ser301=)
c.669C>G (p.Ser223=)
c.1038C>G (p.Ser346=)
1g.229431595G>TCA423754836ACTA1c.991-31C>A (n.991-31C>A)
c.903C>A (p.Ser301=)
c.669C>A (p.Ser223=)
c.1038C>A (p.Ser346=)
1g.229431596G>ACA345144689ACTA1c.991-32C>T (n.991-32C>T)
c.902C>T (p.Ser301Phe)
c.668C>T (p.Ser223Phe)
c.1037C>T (p.Ser346Phe)
 COSMIC
1g.229431596G>CCA345144691ACTA1c.991-32C>G (n.991-32C>G)
c.902C>G (p.Ser301Cys)
c.668C>G (p.Ser223Cys)
c.1037C>G (p.Ser346Cys)
1g.229431596G>TCA345144693ACTA1c.991-32C>A (n.991-32C>A)
c.902C>A (p.Ser301Tyr)
c.668C>A (p.Ser223Tyr)
c.1037C>A (p.Ser346Tyr)

Number of alleles fetched