Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169555201T>ACA343130922F5c.1099A>T (p.Ile367Leu)
c.688A>T (p.Ile230Leu)
1g.169555201T>CCA343130926F5c.1099A>G (p.Ile367Val)
c.688A>G (p.Ile230Val)
1g.169555201T>GCA343130940F5c.1099A>C (p.Ile367Leu)
c.688A>C (p.Ile230Leu)
1g.169555202T>ACA421733556F5c.1098A>T (p.Val366=)
c.687A>T (p.Val229=)
1g.169555202T>CCA421733559F5c.1098A>G (p.Val366=)
c.687A>G (p.Val229=)
 gnomAD v4
1g.169555202T>GCA421733558F5c.1098A>C (p.Val366=)
c.687A>C (p.Val229=)
1g.169555203A=CA1206149228F5c.1097T= (p.Val366=)
c.686T= (p.Val229=)
1g.169555203A>CCA343130943F5c.1097T>G (p.Val366Gly)
c.686T>G (p.Val229Gly)
 dbSNP gnomAD v4
1g.169555203A>GCA343130947F5c.1097T>C (p.Val366Ala)
c.686T>C (p.Val229Ala)
1g.169555203A>TCA343130951F5c.1097T>A (p.Val366Glu)
c.686T>A (p.Val229Glu)
1g.169555204C>ACA343130958F5c.1096G>T (p.Val366Leu)
c.685G>T (p.Val229Leu)
1g.169555204C>GCA343130956F5c.1096G>C (p.Val366Leu)
c.685G>C (p.Val229Leu)
1g.169555204C>TCA343130954F5c.1096G>A (p.Val366Ile)
c.685G>A (p.Val229Ile)
1g.169555205A>CCA421733567F5c.1095T>G (p.Pro365=)
c.684T>G (p.Pro228=)
1g.169555205A>GCA421733569F5c.1095T>C (p.Pro365=)
c.684T>C (p.Pro228=)
 gnomAD v4
1g.169555205A>TCA421733571F5c.1095T>A (p.Pro365=)
c.684T>A (p.Pro228=)
1g.169555206G>ACA343130961F5c.1094C>T (p.Pro365Leu)
c.683C>T (p.Pro228Leu)
 dbSNP gnomAD v4
1g.169555206G>CCA343130962F5c.1094C>G (p.Pro365Arg)
c.683C>G (p.Pro228Arg)
1g.169555206G=CA1206149232F5c.1094C= (p.Pro365=)
c.683C= (p.Pro228=)
1g.169555206G>TCA343130967F5c.1094C>A (p.Pro365His)
c.683C>A (p.Pro228His)
1g.169555207G>ACA343130974F5c.1093C>T (p.Pro365Ser)
c.682C>T (p.Pro228Ser)
1g.169555207G>CCA343130975F5c.1093C>G (p.Pro365Ala)
c.682C>G (p.Pro228Ala)
1g.169555207G>TCA343130978F5c.1093C>A (p.Pro365Thr)
c.682C>A (p.Pro228Thr)
1g.169555208T>ACA421733577F5c.1092A>T (p.Ala364=)
c.681A>T (p.Ala227=)
1g.169555208T>CCA421733579F5c.1092A>G (p.Ala364=)
c.681A>G (p.Ala227=)
1g.169555208T>GCA421733581F5c.1092A>C (p.Ala364=)
c.681A>C (p.Ala227=)
1g.169555209G>ACA343130982F5c.1091C>T (p.Ala364Val)
c.680C>T (p.Ala227Val)
1g.169555209G>CCA343130987F5c.1091C>G (p.Ala364Gly)
c.680C>G (p.Ala227Gly)
 gnomAD v4
1g.169555209G>TCA343130984F5c.1091C>A (p.Ala364Glu)
c.680C>A (p.Ala227Glu)
1g.169555210C>ACA343130996F5c.1090G>T (p.Ala364Ser)
c.679G>T (p.Ala227Ser)
1g.169555210C>GCA343130999F5c.1090G>C (p.Ala364Pro)
c.679G>C (p.Ala227Pro)
1g.169555210C>TCA343131000F5c.1090G>A (p.Ala364Thr)
c.679G>A (p.Ala227Thr)
1g.169555211A=CA1206149234F5c.1089T= (p.Tyr363=)
c.678T= (p.Tyr226=)
1g.169555211A>CCA343131003F5c.1089T>G (p.Tyr363Ter)
c.678T>G (p.Tyr226Ter)
1g.169555211A>GCA421733590F5c.1089T>C (p.Tyr363=)
c.678T>C (p.Tyr226=)
 ClinVar dbSNP COSMIC
1g.169555211A>TCA343131005F5c.1089T>A (p.Tyr363Ter)
c.678T>A (p.Tyr226Ter)
1g.169555212T>ACA343131008F5c.1088A>T (p.Tyr363Phe)
c.677A>T (p.Tyr226Phe)
1g.169555212T>CCA343131010F5c.1088A>G (p.Tyr363Cys)
c.677A>G (p.Tyr226Cys)
1g.169555212T>GCA343131012F5c.1088A>C (p.Tyr363Ser)
c.677A>C (p.Tyr226Ser)
1g.169555213A=CA1206149235F5c.1087T= (p.Tyr363=)
c.676T= (p.Tyr226=)
1g.169555213A>CCA343131014F5c.1087T>G (p.Tyr363Asp)
c.676T>G (p.Tyr226Asp)
1g.169555213A>GCA343131017F5c.1087T>C (p.Tyr363His)
c.676T>C (p.Tyr226His)
 dbSNP gnomAD v4
1g.169555213A>TCA343131020F5c.1087T>A (p.Tyr363Asn)
c.676T>A (p.Tyr226Asn)
1g.169555214G>ACA1234442F5c.1086C>T (p.Asp362=)
c.675C>T (p.Asp225=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555214G>CCA343131060F5c.1086C>G (p.Asp362Glu)
c.675C>G (p.Asp225Glu)
 gnomAD v4
1g.169555214G=CA1142210869F5c.1086C= (p.Asp362=)
c.675C= (p.Asp225=)
1g.169555214G>TCA343131055F5c.1086C>A (p.Asp362Glu)
c.675C>A (p.Asp225Glu)
1g.169555215T>ACA343131061F5c.1085A>T (p.Asp362Val)
c.674A>T (p.Asp225Val)
1g.169555215T>CCA343131063F5c.1085A>G (p.Asp362Gly)
c.674A>G (p.Asp225Gly)
1g.169555215T>GCA343131062F5c.1085A>C (p.Asp362Ala)
c.674A>C (p.Asp225Ala)
1g.169555216C>ACA343131064F5c.1084G>T (p.Asp362Tyr)
c.673G>T (p.Asp225Tyr)
1g.169555216C=CA1206149245F5c.1084G= (p.Asp362=)
c.673G= (p.Asp225=)
1g.169555216C>GCA343131065F5c.1084G>C (p.Asp362His)
c.673G>C (p.Asp225His)
1g.169555216C>TCA32390569F5c.1084G>A (p.Asp362Asn)
c.673G>A (p.Asp225Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.169555217C>ACA343131097F5c.1083G>T (p.Trp361Cys)
c.672G>T (p.Trp224Cys)
1g.169555217C>GCA343131106F5c.1083G>C (p.Trp361Cys)
c.672G>C (p.Trp224Cys)
1g.169555217C>TCA343131103F5c.1083G>A (p.Trp361Ter)
c.672G>A (p.Trp224Ter)
1g.169555218C>ACA343131122F5c.1082G>T (p.Trp361Leu)
c.671G>T (p.Trp224Leu)
1g.169555218C>GCA343131125F5c.1082G>C (p.Trp361Ser)
c.671G>C (p.Trp224Ser)
1g.169555218C>TCA343131138F5c.1082G>A (p.Trp361Ter)
c.671G>A (p.Trp224Ter)
1g.169555219A>CCA343131143F5c.1081T>G (p.Trp361Gly)
c.670T>G (p.Trp224Gly)
1g.169555219A>GCA343131145F5c.1081T>C (p.Trp361Arg)
c.670T>C (p.Trp224Arg)
1g.169555219A>TCA343131150F5c.1081T>A (p.Trp361Arg)
c.670T>A (p.Trp224Arg)
1g.169555220A=CA1206149247F5c.1080T= (p.Ile360=)
c.669T= (p.Ile223=)
1g.169555220A>CCA343131160F5c.1080T>G (p.Ile360Met)
c.669T>G (p.Ile223Met)
1g.169555220A>GCA421733623F5c.1080T>C (p.Ile360=)
c.669T>C (p.Ile223=)
 dbSNP
1g.169555220A>TCA421733624F5c.1080T>A (p.Ile360=)
c.669T>A (p.Ile223=)
1g.169555221A>CCA343131164F5c.1079T>G (p.Ile360Ser)
c.668T>G (p.Ile223Ser)
1g.169555221A>GCA343131166F5c.1079T>C (p.Ile360Thr)
c.668T>C (p.Ile223Thr)
1g.169555221A>TCA343131168F5c.1079T>A (p.Ile360Asn)
c.668T>A (p.Ile223Asn)
1g.169555221_169555222delinsATCA1206149250F5c.1078_1079delinsAT (p.Ile360=)
c.667_668delinsAT (p.Ile223=)
1g.169555222delCA1234443F5c.1078del (p.Ile360PhefsTer7)
c.667del (p.Ile223PhefsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555222T>ACA343131179F5c.1078A>T (p.Ile360Phe)
c.667A>T (p.Ile223Phe)
1g.169555222T>CCA343131173F5c.1078A>G (p.Ile360Val)
c.667A>G (p.Ile223Val)
 gnomAD v4
1g.169555222T>GCA343131177F5c.1078A>C (p.Ile360Leu)
c.667A>C (p.Ile223Leu)
1g.169555223delCA343131180F5c.1077del (p.Ile360PhefsTer7)
c.666del (p.Ile223PhefsTer7)
1g.169555223G>ACA421733634F5c.1077C>T (p.Val359=)
c.666C>T (p.Val222=)
1g.169555223G>CCA421733632F5c.1077C>G (p.Val359=)
c.666C>G (p.Val222=)
1g.169555223G>TCA421733629F5c.1077C>A (p.Val359=)
c.666C>A (p.Val222=)
 gnomAD v4
1g.169555224A>CCA343131182F5c.1076T>G (p.Val359Gly)
c.665T>G (p.Val222Gly)
 gnomAD v4
1g.169555224A>GCA343131185F5c.1076T>C (p.Val359Ala)
c.665T>C (p.Val222Ala)
1g.169555224A>TCA343131187F5c.1076T>A (p.Val359Asp)
c.665T>A (p.Val222Asp)
1g.169555225C>ACA343131191F5c.1075G>T (p.Val359Phe)
c.664G>T (p.Val222Phe)
1g.169555225C>GCA343131192F5c.1075G>C (p.Val359Leu)
c.664G>C (p.Val222Leu)
1g.169555225C>TCA343131194F5c.1075G>A (p.Val359Ile)
c.664G>A (p.Val222Ile)
1g.169555226T>ACA343131198F5c.1074A>T (p.Glu358Asp)
c.663A>T (p.Glu221Asp)
1g.169555226T>CCA421733643F5c.1074A>G (p.Glu358=)
c.663A>G (p.Glu221=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169555226T>GCA343131201F5c.1074A>C (p.Glu358Asp)
c.663A>C (p.Glu221Asp)
1g.169555226T=CA1206149255F5c.1074A= (p.Glu358=)
c.663A= (p.Glu221=)
1g.169555227T>ACA343131207F5c.1073A>T (p.Glu358Val)
c.662A>T (p.Glu221Val)
1g.169555227T>CCA343131208F5c.1073A>G (p.Glu358Gly)
c.662A>G (p.Glu221Gly)
1g.169555227T>GCA343131206F5c.1073A>C (p.Glu358Ala)
c.662A>C (p.Glu221Ala)
1g.169555228C>ACA343131209F5c.1072G>T (p.Glu358Ter)
c.661G>T (p.Glu221Ter)
1g.169555228C=CA1206149259F5c.1072G= (p.Glu358=)
c.661G= (p.Glu221=)
1g.169555228C>GCA1234444F5c.1072G>C (p.Glu358Gln)
c.661G>C (p.Glu221Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169555228C>TCA343131210F5c.1072G>A (p.Glu358Lys)
c.661G>A (p.Glu221Lys)
1g.169555229C>ACA343131214F5c.1071G>T (p.Glu357Asp)
c.660G>T (p.Glu220Asp)
1g.169555229C=CA1206149262F5c.1071G= (p.Glu357=)
c.660G= (p.Glu220=)
1g.169555229C>GCA343131224F5c.1071G>C (p.Glu357Asp)
c.660G>C (p.Glu220Asp)
1g.169555229C>TCA421733652F5c.1071G>A (p.Glu357=)
c.660G>A (p.Glu220=)
 dbSNP
1g.169555230T>ACA343131228F5c.1070A>T (p.Glu357Val)
c.659A>T (p.Glu220Val)
1g.169555230T>CCA343131232F5c.1070A>G (p.Glu357Gly)
c.659A>G (p.Glu220Gly)
 gnomAD v4
1g.169555230T>GCA343131240F5c.1070A>C (p.Glu357Ala)
c.659A>C (p.Glu220Ala)
1g.169555231C>ACA343131243F5c.1069G>T (p.Glu357Ter)
c.658G>T (p.Glu220Ter)
1g.169555231C>GCA343131258F5c.1069G>C (p.Glu357Gln)
c.658G>C (p.Glu220Gln)
 COSMIC
1g.169555231C>TCA343131262F5c.1069G>A (p.Glu357Lys)
c.658G>A (p.Glu220Lys)
1g.169555232T>ACA421733662F5c.1068A>T (p.Ala356=)
c.657A>T (p.Ala219=)
1g.169555232T>CCA421733664F5c.1068A>G (p.Ala356=)
c.657A>G (p.Ala219=)
1g.169555232T>GCA421733666F5c.1068A>C (p.Ala356=)
c.657A>C (p.Ala219=)
1g.169555233G>ACA343131266F5c.1067C>T (p.Ala356Val)
c.656C>T (p.Ala219Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169555233G>CCA343131267F5c.1067C>G (p.Ala356Gly)
c.656C>G (p.Ala219Gly)
1g.169555233G=CA1206149266F5c.1067C= (p.Ala356=)
c.656C= (p.Ala219=)
1g.169555233G>TCA343131264F5c.1067C>A (p.Ala356Glu)
c.656C>A (p.Ala219Glu)
1g.169555234C>ACA343131269F5c.1066G>T (p.Ala356Ser)
c.655G>T (p.Ala219Ser)
1g.169555234C=CA1206149269F5c.1066G= (p.Ala356=)
c.655G= (p.Ala219=)
1g.169555234C>GCA343131271F5c.1066G>C (p.Ala356Pro)
c.655G>C (p.Ala219Pro)
1g.169555234C>TCA343131275F5c.1066G>A (p.Ala356Thr)
c.655G>A (p.Ala219Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.169555235A>CCA421733676F5c.1065T>G (p.Ala355=)
c.654T>G (p.Ala218=)
1g.169555235A>GCA421733678F5c.1065T>C (p.Ala355=)
c.654T>C (p.Ala218=)
1g.169555235A>TCA421733680F5c.1065T>A (p.Ala355=)
c.654T>A (p.Ala218=)
1g.169555236G>ACA343131279F5c.1064C>T (p.Ala355Val)
c.653C>T (p.Ala218Val)
1g.169555236G>CCA343131281F5c.1064C>G (p.Ala355Gly)
c.653C>G (p.Ala218Gly)
1g.169555236G>TCA343131289F5c.1064C>A (p.Ala355Asp)
c.653C>A (p.Ala218Asp)
 COSMIC
1g.169555237delCA2586964376F5c.1063del (p.Ala355LeufsTer12)
c.652del (p.Ala218LeufsTer12)
1g.169555237C>ACA343131292F5c.1063G>T (p.Ala355Ser)
c.652G>T (p.Ala218Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.169555237C=CA1206149270F5c.1063G= (p.Ala355=)
c.652G= (p.Ala218=)
1g.169555237C>GCA343131318F5c.1063G>C (p.Ala355Pro)
c.652G>C (p.Ala218Pro)
1g.169555237C>TCA343131297F5c.1063G>A (p.Ala355Thr)
c.652G>A (p.Ala218Thr)
1g.169555238A=CA1206149272F5c.1062T= (p.Ile354=)
c.651T= (p.Ile217=)
1g.169555238A>CCA343131321F5c.1062T>G (p.Ile354Met)
c.651T>G (p.Ile217Met)
 ClinVar dbSNP
1g.169555238A>GCA421733691F5c.1062T>C (p.Ile354=)
c.651T>C (p.Ile217=)
 dbSNP gnomAD v2 gnomAD v4
1g.169555238A>TCA421733693F5c.1062T>A (p.Ile354=)
c.651T>A (p.Ile217=)
1g.169555239A=CA1143911972F5c.1061T= (p.Ile354=)
c.650T= (p.Ile217=)
1g.169555239A>CCA343131324F5c.1061T>G (p.Ile354Ser)
c.650T>G (p.Ile217Ser)
1g.169555239A>GCA1234445F5c.1061T>C (p.Ile354Thr)
c.650T>C (p.Ile217Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555239A>TCA343131333F5c.1061T>A (p.Ile354Asn)
c.650T>A (p.Ile217Asn)
1g.169555240T>ACA343131351F5c.1060A>T (p.Ile354Phe)
c.649A>T (p.Ile217Phe)
1g.169555240T>CCA343131347F5c.1060A>G (p.Ile354Val)
c.649A>G (p.Ile217Val)
1g.169555240T>GCA343131340F5c.1060A>C (p.Ile354Leu)
c.649A>C (p.Ile217Leu)
1g.169555241G>ACA421733702F5c.1059C>T (p.Phe353=)
c.648C>T (p.Phe216=)
 dbSNP gnomAD v3 gnomAD v4
1g.169555241G>CCA1234446F5c.1059C>G (p.Phe353Leu)
c.648C>G (p.Phe216Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555241G=CA1143423797F5c.1059C= (p.Phe353=)
c.648C= (p.Phe216=)
1g.169555241G>TCA343131356F5c.1059C>A (p.Phe353Leu)
c.648C>A (p.Phe216Leu)
1g.169555242A>CCA343131359F5c.1058T>G (p.Phe353Cys)
c.647T>G (p.Phe216Cys)
1g.169555242A>GCA343131362F5c.1058T>C (p.Phe353Ser)
c.647T>C (p.Phe216Ser)
1g.169555242A>TCA343131366F5c.1058T>A (p.Phe353Tyr)
c.647T>A (p.Phe216Tyr)
1g.169555243A=CA1206149282F5c.1057T= (p.Phe353=)
c.646T= (p.Phe216=)
1g.169555243A>CCA343131383F5c.1057T>G (p.Phe353Val)
c.646T>G (p.Phe216Val)
 dbSNP gnomAD v2 gnomAD v4
1g.169555243A>GCA343131386F5c.1057T>C (p.Phe353Leu)
c.646T>C (p.Phe216Leu)
 gnomAD v4
1g.169555243A>TCA343131387F5c.1057T>A (p.Phe353Ile)
c.646T>A (p.Phe216Ile)
1g.169555244G>ACA421733716F5c.1056C>T (p.Tyr352=)
c.645C>T (p.Tyr215=)
 dbSNP gnomAD v4
1g.169555244G>CCA343131388F5c.1056C>G (p.Tyr352Ter)
c.645C>G (p.Tyr215Ter)
1g.169555244G=CA1206149284F5c.1056C= (p.Tyr352=)
c.645C= (p.Tyr215=)
1g.169555244G>TCA343131389F5c.1056C>A (p.Tyr352Ter)
c.645C>A (p.Tyr215Ter)
1g.169555245T>ACA343131390F5c.1055A>T (p.Tyr352Phe)
c.644A>T (p.Tyr215Phe)
 gnomAD v4
1g.169555245T>CCA343131391F5c.1055A>G (p.Tyr352Cys)
c.644A>G (p.Tyr215Cys)
 gnomAD v4
1g.169555245T>GCA343131394F5c.1055A>C (p.Tyr352Ser)
c.644A>C (p.Tyr215Ser)
1g.169555245_169555248dupCA2649036322F5c.1052_1055dup (p.Tyr352Ter)
c.641_644dup (p.Tyr215Ter)
 gnomAD v4
1g.169555246A=CA1206149287F5c.1054T= (p.Tyr352=)
c.643T= (p.Tyr215=)
1g.169555246A>CCA343131405F5c.1054T>G (p.Tyr352Asp)
c.643T>G (p.Tyr215Asp)
1g.169555246A>GCA343131398F5c.1054T>C (p.Tyr352His)
c.643T>C (p.Tyr215His)
 dbSNP gnomAD v2 gnomAD v4
1g.169555246A>TCA343131404F5c.1054T>A (p.Tyr352Asn)
c.643T>A (p.Tyr215Asn)
1g.169555247T>ACA343131407F5c.1053A>T (p.Glu351Asp)
c.642A>T (p.Glu214Asp)
1g.169555247T>CCA421733739F5c.1053A>G (p.Glu351=)
c.642A>G (p.Glu214=)
1g.169555247T>GCA343131410F5c.1053A>C (p.Glu351Asp)
c.642A>C (p.Glu214Asp)
1g.169555248T>ACA343131418F5c.1052A>T (p.Glu351Val)
c.641A>T (p.Glu214Val)
1g.169555248T>CCA343131423F5c.1052A>G (p.Glu351Gly)
c.641A>G (p.Glu214Gly)
1g.169555248T>GCA343131426F5c.1052A>C (p.Glu351Ala)
c.641A>C (p.Glu214Ala)
1g.169555249C>ACA343131430F5c.1051G>T (p.Glu351Ter)
c.640G>T (p.Glu214Ter)
1g.169555249C>GCA343131432F5c.1051G>C (p.Glu351Gln)
c.640G>C (p.Glu214Gln)
1g.169555249C>TCA343131436F5c.1051G>A (p.Glu351Lys)
c.640G>A (p.Glu214Lys)
1g.169555250C>ACA343131439F5c.1050G>T (p.Trp350Cys)
c.639G>T (p.Trp213Cys)
1g.169555250C>GCA343131443F5c.1050G>C (p.Trp350Cys)
c.639G>C (p.Trp213Cys)
1g.169555250C>TCA343131445F5c.1050G>A (p.Trp350Ter)
c.639G>A (p.Trp213Ter)
1g.169555251C>ACA343131463F5c.1049G>T (p.Trp350Leu)
c.638G>T (p.Trp213Leu)
1g.169555251C=CA1206149289F5c.1049G= (p.Trp350=)
c.638G= (p.Trp213=)
1g.169555251C>GCA343131468F5c.1049G>C (p.Trp350Ser)
c.638G>C (p.Trp213Ser)
1g.169555251C>TCA343131453F5c.1049G>A (p.Trp350Ter)
c.638G>A (p.Trp213Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.169555253_169555260delCA2580061363F5c.1042_1049del (p.Lys348GlyfsTer?)
c.631_638del (p.Lys211GlyfsTer?)
 ClinVar dbSNP
1g.169555252A>CCA343131472F5c.1048T>G (p.Trp350Gly)
c.637T>G (p.Trp213Gly)
1g.169555252A>GCA343131474F5c.1048T>C (p.Trp350Arg)
c.637T>C (p.Trp213Arg)
1g.169555252A>TCA343131480F5c.1048T>A (p.Trp350Arg)
c.637T>A (p.Trp213Arg)
1g.169555253C>ACA343131492F5c.1047G>T (p.Arg349Ser)
c.636G>T (p.Arg212Ser)
1g.169555253C>GCA343131494F5c.1047G>C (p.Arg349Ser)
c.636G>C (p.Arg212Ser)
1g.169555253C>TCA421733756F5c.1047G>A (p.Arg349=)
c.636G>A (p.Arg212=)
1g.169555254C>ACA343131511F5c.1046G>T (p.Arg349Met)
c.635G>T (p.Arg212Met)
1g.169555254C=CA1206149293F5c.1046G= (p.Arg349=)
c.635G= (p.Arg212=)
1g.169555254C>GCA343131512F5c.1046G>C (p.Arg349Thr)
c.635G>C (p.Arg212Thr)
1g.169555254C>TCA343131516F5c.1046G>A (p.Arg349Lys)
c.635G>A (p.Arg212Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.169555255T>ACA1234447F5c.1045A>T (p.Arg349Trp)
c.634A>T (p.Arg212Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555255T>CCA343131538F5c.1045A>G (p.Arg349Gly)
c.634A>G (p.Arg212Gly)
1g.169555255T>GCA421733767F5c.1045A>C (p.Arg349=)
c.634A>C (p.Arg212=)
1g.169555255T=CA1149150923F5c.1045A= (p.Arg349=)
c.634A= (p.Arg212=)
1g.169555256C>ACA343131546F5c.1044G>T (p.Lys348Asn)
c.633G>T (p.Lys211Asn)
 COSMIC
1g.169555256C>GCA343131547F5c.1044G>C (p.Lys348Asn)
c.633G>C (p.Lys211Asn)
 gnomAD v4
1g.169555256C>TCA421733779F5c.1044G>A (p.Lys348=)
c.633G>A (p.Lys211=)
1g.169555257T>ACA343131554F5c.1043A>T (p.Lys348Met)
c.632A>T (p.Lys211Met)
1g.169555257T>CCA343131555F5c.1043A>G (p.Lys348Arg)
c.632A>G (p.Lys211Arg)
 gnomAD v4
1g.169555257T>GCA343131550F5c.1043A>C (p.Lys348Thr)
c.632A>C (p.Lys211Thr)
1g.169555258T>ACA343131562F5c.1042A>T (p.Lys348Ter)
c.631A>T (p.Lys211Ter)
1g.169555258T>CCA343131566F5c.1042A>G (p.Lys348Glu)
c.631A>G (p.Lys211Glu)
1g.169555258T>GCA343131579F5c.1042A>C (p.Lys348Gln)
c.631A>C (p.Lys211Gln)
1g.169555259C>ACA343131590F5c.1041G>T (p.Met347Ile)
c.630G>T (p.Met210Ile)
1g.169555259C=CA1206149294F5c.1041G= (p.Met347=)
c.630G= (p.Met210=)
1g.169555259C>GCA343131606F5c.1041G>C (p.Met347Ile)
c.630G>C (p.Met210Ile)
1g.169555259C>TCA1234448F5c.1041G>A (p.Met347Ile)
c.630G>A (p.Met210Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555260A>CCA343131610F5c.1040T>G (p.Met347Arg)
c.629T>G (p.Met210Arg)
1g.169555260A>GCA343131612F5c.1040T>C (p.Met347Thr)
c.629T>C (p.Met210Thr)
 gnomAD v4
1g.169555260A>TCA343131611F5c.1040T>A (p.Met347Lys)
c.629T>A (p.Met210Lys)
1g.169555261T>ACA343131613F5c.1039A>T (p.Met347Leu)
c.628A>T (p.Met210Leu)
 gnomAD v4
1g.169555261T>CCA343131617F5c.1039A>G (p.Met347Val)
c.628A>G (p.Met210Val)
1g.169555261T>GCA343131622F5c.1039A>C (p.Met347Leu)
c.628A>C (p.Met210Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.169555261T=CA1206149296F5c.1039A= (p.Met347=)
c.628A= (p.Met210=)
1g.169555262G>ACA421733805F5c.1038C>T (p.His346=)
c.627C>T (p.His209=)
 gnomAD v4
1g.169555262G>CCA343131625F5c.1038C>G (p.His346Gln)
c.627C>G (p.His209Gln)
1g.169555262G>TCA343131626F5c.1038C>A (p.His346Gln)
c.627C>A (p.His209Gln)
1g.169555263T>ACA343131640F5c.1037A>T (p.His346Leu)
c.626A>T (p.His209Leu)
1g.169555263T>CCA343131648F5c.1037A>G (p.His346Arg)
c.626A>G (p.His209Arg)
1g.169555263T>GCA343131633F5c.1037A>C (p.His346Pro)
c.626A>C (p.His209Pro)
 dbSNP
1g.169555263T=CA1206149298F5c.1037A= (p.His346=)
c.626A= (p.His209=)
1g.169555264G>ACA343131650F5c.1036C>T (p.His346Tyr)
c.625C>T (p.His209Tyr)
 dbSNP
1g.169555264G>CCA343131649F5c.1036C>G (p.His346Asp)
c.625C>G (p.His209Asp)
1g.169555264G=CA1206149301F5c.1036C= (p.His346=)
c.625C= (p.His209=)
1g.169555264G>TCA343131651F5c.1036C>A (p.His346Asn)
c.625C>A (p.His209Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.169555265C>ACA421733825F5c.1035G>T (p.Arg345=)
c.624G>T (p.Arg208=)
1g.169555265C>GCA421733824F5c.1035G>C (p.Arg345=)
c.624G>C (p.Arg208=)
1g.169555265C>TCA421733822F5c.1035G>A (p.Arg345=)
c.624G>A (p.Arg208=)
 COSMIC
1g.169555266C>ACA343131656F5c.1034G>T (p.Arg345Leu)
c.623G>T (p.Arg208Leu)
1g.169555266C=CA1143459771F5c.1034G= (p.Arg345=)
c.623G= (p.Arg208=)
1g.169555266C>GCA343131672F5c.1034G>C (p.Arg345Pro)
c.623G>C (p.Arg208Pro)
1g.169555266C>TCA1234449F5c.1034G>A (p.Arg345Gln)
c.623G>A (p.Arg208Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555267G>ACA1234450F5c.1033C>T (p.Arg345Trp)
c.622C>T (p.Arg208Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169555267G>CCA343131691F5c.1033C>G (p.Arg345Gly)
c.622C>G (p.Arg208Gly)
1g.169555267G=CA1148297611F5c.1033C= (p.Arg345=)
c.622C= (p.Arg208=)
1g.169555267G>TCA421733831F5c.1033C>A (p.Arg345=)
c.622C>A (p.Arg208=)
 gnomAD v4
1g.169555268C>ACA343131699F5c.1032G>T (p.Arg344Ser)
c.621G>T (p.Arg207Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.169555268C=CA1206149315F5c.1032G= (p.Arg344=)
c.621G= (p.Arg207=)
1g.169555268C>GCA343131705F5c.1032G>C (p.Arg344Ser)
c.621G>C (p.Arg207Ser)
1g.169555268C>TCA421733833F5c.1032G>A (p.Arg344=)
c.621G>A (p.Arg207=)
 gnomAD v4
1g.169555269C>ACA343131711F5c.1031G>T (p.Arg344Met)
c.620G>T (p.Arg207Met)
1g.169555269C=CA1206149319F5c.1031G= (p.Arg344=)
c.620G= (p.Arg207=)
1g.169555269C>GCA343131729F5c.1031G>C (p.Arg344Thr)
c.620G>C (p.Arg207Thr)
1g.169555269C>TCA1234451F5c.1031G>A (p.Arg344Lys)
c.620G>A (p.Arg207Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555270T>ACA343131739F5c.1030A>T (p.Arg344Trp)
c.619A>T (p.Arg207Trp)
1g.169555270T>CCA343131740F5c.1030A>G (p.Arg344Gly)
c.619A>G (p.Arg207Gly)
 gnomAD v4
1g.169555270T>GCA421733841F5c.1030A>C (p.Arg344=)
c.619A>C (p.Arg207=)
1g.169555271C>ACA343131741F5c.1029G>T (p.Gln343His)
c.618G>T (p.Gln206His)
 COSMIC
1g.169555271C=CA1206149323F5c.1029G= (p.Gln343=)
c.618G= (p.Gln206=)
1g.169555271C>GCA343131742F5c.1029G>C (p.Gln343His)
c.618G>C (p.Gln206His)
 dbSNP gnomAD v4
1g.169555271C>TCA32390623F5c.1029G>A (p.Gln343=)
c.618G>A (p.Gln206=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.169555272T>ACA343131743F5c.1028A>T (p.Gln343Leu)
c.617A>T (p.Gln206Leu)
1g.169555272T>CCA343131744F5c.1028A>G (p.Gln343Arg)
c.617A>G (p.Gln206Arg)
1g.169555272T>GCA343131746F5c.1028A>C (p.Gln343Pro)
c.617A>C (p.Gln206Pro)
1g.169555273G>ACA343131750F5c.1027C>T (p.Gln343Ter)
c.616C>T (p.Gln206Ter)
1g.169555273G>CCA343131753F5c.1027C>G (p.Gln343Glu)
c.616C>G (p.Gln206Glu)
1g.169555273G>TCA343131757F5c.1027C>A (p.Gln343Lys)
c.616C>A (p.Gln206Lys)
1g.169555274C>ACA343131758F5c.1026G>T (p.Glu342Asp)
c.615G>T (p.Glu205Asp)
1g.169555274C>GCA343131760F5c.1026G>C (p.Glu342Asp)
c.615G>C (p.Glu205Asp)
1g.169555274C>TCA421733854F5c.1026G>A (p.Glu342=)
c.615G>A (p.Glu205=)
1g.169555275T>ACA343131762F5c.1025A>T (p.Glu342Val)
c.614A>T (p.Glu205Val)
1g.169555275T>CCA343131764F5c.1025A>G (p.Glu342Gly)
c.614A>G (p.Glu205Gly)
1g.169555275T>GCA343131768F5c.1025A>C (p.Glu342Ala)
c.614A>C (p.Glu205Ala)
1g.169555276C>ACA343131777F5c.1024G>T (p.Glu342Ter)
c.613G>T (p.Glu205Ter)
1g.169555276C>GCA343131781F5c.1024G>C (p.Glu342Gln)
c.613G>C (p.Glu205Gln)
1g.169555276C>TCA343131772F5c.1024G>A (p.Glu342Lys)
c.613G>A (p.Glu205Lys)
 gnomAD v4
1g.169555277A>CCA421733867F5c.1023T>G (p.Arg341=)
c.612T>G (p.Arg204=)
1g.169555277A>GCA421733869F5c.1023T>C (p.Arg341=)
c.612T>C (p.Arg204=)
 gnomAD v4
1g.169555277A>TCA421733871F5c.1023T>A (p.Arg341=)
c.612T>A (p.Arg204=)
1g.169555278C>ACA343131784F5c.1022G>T (p.Arg341Leu)
c.611G>T (p.Arg204Leu)
1g.169555278C=CA1206149325F5c.1022G= (p.Arg341=)
c.611G= (p.Arg204=)
1g.169555278C>GCA343131787F5c.1022G>C (p.Arg341Pro)
c.611G>C (p.Arg204Pro)
1g.169555278C>TCA343131792F5c.1022G>A (p.Arg341His)
c.611G>A (p.Arg204His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169555279G>ACA1234452F5c.1021C>T (p.Arg341Cys)
c.610C>T (p.Arg204Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169555279G>CCA343131799F5c.1021C>G (p.Arg341Gly)
c.610C>G (p.Arg204Gly)
1g.169555279G=CA1143423798F5c.1021C= (p.Arg341=)
c.610C= (p.Arg204=)
1g.169555279G>TCA343131835F5c.1021C>A (p.Arg341Ser)
c.610C>A (p.Arg204Ser)
1g.169555280A>CCA421733879F5c.1020T>G (p.Thr340=)
c.609T>G (p.Thr203=)
1g.169555280A>GCA421733881F5c.1020T>C (p.Thr340=)
c.609T>C (p.Thr203=)
1g.169555280A>TCA421733882F5c.1020T>A (p.Thr340=)
c.609T>A (p.Thr203=)
1g.169555281G>ACA343131846F5c.1019C>T (p.Thr340Ile)
c.608C>T (p.Thr203Ile)
1g.169555281G>CCA343131864F5c.1019C>G (p.Thr340Ser)
c.608C>G (p.Thr203Ser)
1g.169555281G=CA1206149328F5c.1019C= (p.Thr340=)
c.608C= (p.Thr203=)
1g.169555281G>TCA343131867F5c.1019C>A (p.Thr340Asn)
c.608C>A (p.Thr203Asn)
 dbSNP
1g.169555282T>ACA343131875F5c.1018A>T (p.Thr340Ser)
c.607A>T (p.Thr203Ser)
1g.169555282T>CCA343131883F5c.1018A>G (p.Thr340Ala)
c.607A>G (p.Thr203Ala)
 COSMIC
1g.169555282T>GCA343131891F5c.1018A>C (p.Thr340Pro)
c.607A>C (p.Thr203Pro)
1g.169555283T>ACA421733890F5c.1017A>T (p.Ile339=)
c.606A>T (p.Ile202=)
1g.169555283T>CCA343131894F5c.1017A>G (p.Ile339Met)
c.606A>G (p.Ile202Met)
1g.169555283T>GCA421733892F5c.1017A>C (p.Ile339=)
c.606A>C (p.Ile202=)
1g.169555284A>CCA343131911F5c.1016T>G (p.Ile339Arg)
c.605T>G (p.Ile202Arg)
 COSMIC
1g.169555284A>GCA343131901F5c.1016T>C (p.Ile339Thr)
c.605T>C (p.Ile202Thr)
1g.169555284A>TCA343131897F5c.1016T>A (p.Ile339Lys)
c.605T>A (p.Ile202Lys)
1g.169555285T>ACA343131919F5c.1015A>T (p.Ile339Leu)
c.604A>T (p.Ile202Leu)
1g.169555285T>CCA343131923F5c.1015A>G (p.Ile339Val)
c.604A>G (p.Ile202Val)
 dbSNP gnomAD v2 gnomAD v4
1g.169555285T>GCA343131926F5c.1015A>C (p.Ile339Leu)
c.604A>C (p.Ile202Leu)
1g.169555285T=CA1206149330F5c.1015A= (p.Ile339=)
c.604A= (p.Ile202=)
1g.169555286T>ACA343131932F5c.1014A>T (p.Lys338Asn)
c.603A>T (p.Lys201Asn)
1g.169555286T>CCA421733902F5c.1014A>G (p.Lys338=)
c.603A>G (p.Lys201=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.169555286T>GCA343131936F5c.1014A>C (p.Lys338Asn)
c.603A>C (p.Lys201Asn)
 dbSNP gnomAD v3 gnomAD v4
1g.169555286T=CA1206149333F5c.1014A= (p.Lys338=)
c.603A= (p.Lys201=)
1g.169555287T>ACA1234453F5c.1013A>T (p.Lys338Ile)
c.602A>T (p.Lys201Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169555287T>CCA343131944F5c.1013A>G (p.Lys338Arg)
c.602A>G (p.Lys201Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.169555287T>GCA343131949F5c.1013A>C (p.Lys338Thr)
c.602A>C (p.Lys201Thr)
1g.169555287T=CA1206149335F5c.1013A= (p.Lys338=)
c.602A= (p.Lys201=)
1g.169555288T>ACA343131953F5c.1012A>T (p.Lys338Ter)
c.601A>T (p.Lys201Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.169555288T>CCA343131955F5c.1012A>G (p.Lys338Glu)
c.601A>G (p.Lys201Glu)
 gnomAD v4
1g.169555288T>GCA343131956F5c.1012A>C (p.Lys338Gln)
c.601A>C (p.Lys201Gln)
1g.169555288T=CA1206149338F5c.1012A= (p.Lys338=)
c.601A= (p.Lys201=)
1g.169555289C>ACA343131957F5c.1011G>T (p.Lys337Asn)
c.600G>T (p.Lys200Asn)
1g.169555289C>GCA343131958F5c.1011G>C (p.Lys337Asn)
c.600G>C (p.Lys200Asn)
1g.169555289C>TCA421733924F5c.1011G>A (p.Lys337=)
c.600G>A (p.Lys200=)
1g.169555290T>ACA343131964F5c.1010A>T (p.Lys337Met)
c.599A>T (p.Lys200Met)
 gnomAD v4
1g.169555290T>CCA343131984F5c.1010A>G (p.Lys337Arg)
c.599A>G (p.Lys200Arg)
 dbSNP
1g.169555290T>GCA343131960F5c.1010A>C (p.Lys337Thr)
c.599A>C (p.Lys200Thr)
1g.169555290T=CA1206149342F5c.1010A= (p.Lys337=)
c.599A= (p.Lys200=)
1g.169555291T>ACA343131991F5c.1009A>T (p.Lys337Ter)
c.598A>T (p.Lys200Ter)
1g.169555291T>CCA343131986F5c.1009A>G (p.Lys337Glu)
c.598A>G (p.Lys200Glu)
1g.169555291T>GCA343131987F5c.1009A>C (p.Lys337Gln)
c.598A>C (p.Lys200Gln)
1g.169555292A>CCA421733929F5c.1008T>G (p.Leu336=)
c.597T>G (p.Leu199=)
1g.169555292A>GCA421733927F5c.1008T>C (p.Leu336=)
c.597T>C (p.Leu199=)
1g.169555292A>TCA421733926F5c.1008T>A (p.Leu336=)
c.597T>A (p.Leu199=)
1g.169555293A>CCA343131998F5c.1007T>G (p.Leu336Arg)
c.596T>G (p.Leu199Arg)
1g.169555293A>GCA343132000F5c.1007T>C (p.Leu336Pro)
c.596T>C (p.Leu199Pro)
1g.169555293A>TCA343132007F5c.1007T>A (p.Leu336His)
c.596T>A (p.Leu199His)
1g.169555294G>ACA343132010F5c.1006C>T (p.Leu336Phe)
c.595C>T (p.Leu199Phe)
1g.169555294G>CCA343132018F5c.1006C>G (p.Leu336Val)
c.595C>G (p.Leu199Val)
1g.169555294G>TCA343132020F5c.1006C>A (p.Leu336Ile)
c.595C>A (p.Leu199Ile)
 gnomAD v4
1g.169555295A>CCA343132028F5c.1005T>G (p.Asn335Lys)
c.594T>G (p.Asn198Lys)
1g.169555295A>GCA421733940F5c.1005T>C (p.Asn335=)
c.594T>C (p.Asn198=)
 gnomAD v4
1g.169555295A>TCA343132030F5c.1005T>A (p.Asn335Lys)
c.594T>A (p.Asn198Lys)
1g.169555296T>ACA1234454F5c.1004A>T (p.Asn335Ile)
c.593A>T (p.Asn198Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.169555296T>CCA1234455F5c.1004A>G (p.Asn335Ser)
c.593A>G (p.Asn198Ser)
 dbSNP ExAC gnomAD v2
1g.169555296T>GCA343132036F5c.1004A>C (p.Asn335Thr)
c.593A>C (p.Asn198Thr)
1g.169555296T=CA1143700512F5c.1004A= (p.Asn335=)
c.593A= (p.Asn198=)
1g.169555297T>ACA343132048F5c.1003A>T (p.Asn335Tyr)
c.592A>T (p.Asn198Tyr)
1g.169555297T>CCA343132041F5c.1003A>G (p.Asn335Asp)
c.592A>G (p.Asn198Asp)
1g.169555297T>GCA343132045F5c.1003A>C (p.Asn335His)
c.592A>C (p.Asn198His)
1g.169555298C>ACA343132051F5c.1002G>T (p.Arg334Ser)
c.591G>T (p.Arg197Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.169555298C=CA1206149347F5c.1002G= (p.Arg334=)
c.591G= (p.Arg197=)
1g.169555298C>GCA343132055F5c.1002G>C (p.Arg334Ser)
c.591G>C (p.Arg197Ser)
1g.169555298C>TCA421733958F5c.1002G>A (p.Arg334=)
c.591G>A (p.Arg197=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.169555299C>ACA343132066F5c.1001G>T (p.Arg334Met)
c.590G>T (p.Arg197Met)
1g.169555299C=CA1141580334F5c.1001G= (p.Arg334=)
c.590G= (p.Arg197=)
1g.169555299C>GCA251546F5c.1001G>C (p.Arg334Thr)
c.590G>C (p.Arg197Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555299C>TCA343132077F5c.1001G>A (p.Arg334Lys)
c.590G>A (p.Arg197Lys)
1g.169555300T>ACA343132081F5c.1000A>T (p.Arg334Trp)
c.589A>T (p.Arg197Trp)
1g.169555300T>CCA114381F5c.1000A>G (p.Arg334Gly)
c.589A>G (p.Arg197Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555300T>GCA421733966F5c.1000A>C (p.Arg334=)
c.589A>C (p.Arg197=)
1g.169555300T=CA1141580335F5c.1000A= (p.Arg334=)
c.589A= (p.Arg197=)
1g.169555301G>ACA421733968F5c.999C>T (p.Thr333=)
c.588C>T (p.Thr196=)
1g.169555301G>CCA32390640F5c.999C>G (p.Thr333=)
c.588C>G (p.Thr196=)
 dbSNP gnomAD v4
1g.169555301G=CA1206149353F5c.999C= (p.Thr333=)
c.588C= (p.Thr196=)
1g.169555301G>TCA421733971F5c.999C>A (p.Thr333=)
c.588C>A (p.Thr196=)

Number of alleles fetched