Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.7663653A>CCA338124831CAMTA1c.1106A>C (p.Asp369Ala)
c.*957A>C (n.*957A>C)
c.1016A>C (p.Asp339Ala)
c.1034A>C (p.Asp345Ala)
c.*875A>C (n.*875A>C)
c.1094A>C (p.Asp365Ala)
1g.7663653A>GCA338124838CAMTA1c.1106A>G (p.Asp369Gly)
c.*957A>G (n.*957A>G)
c.1016A>G (p.Asp339Gly)
c.1034A>G (p.Asp345Gly)
c.*875A>G (n.*875A>G)
c.1094A>G (p.Asp365Gly)
1g.7663653A>TCA338124835CAMTA1c.1106A>T (p.Asp369Val)
c.*957A>T (n.*957A>T)
c.1016A>T (p.Asp339Val)
c.1034A>T (p.Asp345Val)
c.*875A>T (n.*875A>T)
c.1094A>T (p.Asp365Val)
1g.7663654C>ACA338124849CAMTA1c.1107C>A (p.Asp369Glu)
c.*958C>A (n.*958C>A)
c.1017C>A (p.Asp339Glu)
c.1035C>A (p.Asp345Glu)
c.*876C>A (n.*876C>A)
c.1095C>A (p.Asp365Glu)
1g.7663654C>GCA338124851CAMTA1c.1107C>G (p.Asp369Glu)
c.*958C>G (n.*958C>G)
c.1017C>G (p.Asp339Glu)
c.1035C>G (p.Asp345Glu)
c.*876C>G (n.*876C>G)
c.1095C>G (p.Asp365Glu)
1g.7663654C>TCA416026488CAMTA1c.1107C>T (p.Asp369=)
c.*958C>T (n.*958C>T)
c.1017C>T (p.Asp339=)
c.1035C>T (p.Asp345=)
c.*876C>T (n.*876C>T)
c.1095C>T (p.Asp365=)
1g.7663655C>ACA338124852CAMTA1c.1108C>A (p.Pro370Thr)
c.*959C>A (n.*959C>A)
c.1018C>A (p.Pro340Thr)
c.1036C>A (p.Pro346Thr)
c.*877C>A (n.*877C>A)
c.1096C>A (p.Pro366Thr)
dbSNP gnomAD v2
1g.7663655C=CA1152023688CAMTA1c.1108C= (p.Pro370=)
c.*959C= (n.*959C=)
c.1018C= (p.Pro340=)
c.1036C= (p.Pro346=)
c.*877C= (n.*877C=)
c.1096C= (p.Pro366=)
1g.7663655C>GCA338124853CAMTA1c.1108C>G (p.Pro370Ala)
c.*959C>G (n.*959C>G)
c.1018C>G (p.Pro340Ala)
c.1036C>G (p.Pro346Ala)
c.*877C>G (n.*877C>G)
c.1096C>G (p.Pro366Ala)
1g.7663655C>TCA338124858CAMTA1c.1108C>T (p.Pro370Ser)
c.*959C>T (n.*959C>T)
c.1018C>T (p.Pro340Ser)
c.1036C>T (p.Pro346Ser)
c.*877C>T (n.*877C>T)
c.1096C>T (p.Pro366Ser)
dbSNP
1g.7663656C>ACA17244098CAMTA1c.1109C>A (p.Pro370Gln)
c.*960C>A (n.*960C>A)
c.1019C>A (p.Pro340Gln)
c.1037C>A (p.Pro346Gln)
c.*878C>A (n.*878C>A)
c.1097C>A (p.Pro366Gln)
dbSNP
1g.7663656C=CA1141651058CAMTA1c.1109C= (p.Pro370=)
c.*960C= (n.*960C=)
c.1019C= (p.Pro340=)
c.1037C= (p.Pro346=)
c.*878C= (n.*878C=)
c.1097C= (p.Pro366=)
1g.7663656C>GCA338124875CAMTA1c.1109C>G (p.Pro370Arg)
c.*960C>G (n.*960C>G)
c.1019C>G (p.Pro340Arg)
c.1037C>G (p.Pro346Arg)
c.*878C>G (n.*878C>G)
c.1097C>G (p.Pro366Arg)
1g.7663656C>TCA566369CAMTA1c.1109C>T (p.Pro370Leu)
c.*960C>T (n.*960C>T)
c.1019C>T (p.Pro340Leu)
c.1037C>T (p.Pro346Leu)
c.*878C>T (n.*878C>T)
c.1097C>T (p.Pro366Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663657G>ACA566370CAMTA1c.1110G>A (p.Pro370=)
c.*961G>A (n.*961G>A)
c.1020G>A (p.Pro340=)
c.1038G>A (p.Pro346=)
c.*879G>A (n.*879G>A)
c.1098G>A (p.Pro366=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663657G>CCA416026489CAMTA1c.1110G>C (p.Pro370=)
c.*961G>C (n.*961G>C)
c.1020G>C (p.Pro340=)
c.1038G>C (p.Pro346=)
c.*879G>C (n.*879G>C)
c.1098G>C (p.Pro366=)
1g.7663657G=CA1144075220CAMTA1c.1110G= (p.Pro370=)
c.*961G= (n.*961G=)
c.1020G= (p.Pro340=)
c.1038G= (p.Pro346=)
c.*879G= (n.*879G=)
c.1098G= (p.Pro366=)
1g.7663657G>TCA416026490CAMTA1c.1110G>T (p.Pro370=)
c.*961G>T (n.*961G>T)
c.1020G>T (p.Pro340=)
c.1038G>T (p.Pro346=)
c.*879G>T (n.*879G>T)
c.1098G>T (p.Pro366=)
dbSNP gnomAD v2
1g.7663658G>ACA338124940CAMTA1c.1111G>A (p.Asp371Asn)
c.*962G>A (n.*962G>A)
c.1021G>A (p.Asp341Asn)
c.1039G>A (p.Asp347Asn)
c.*880G>A (n.*880G>A)
c.1099G>A (p.Asp367Asn)
1g.7663658G>CCA338124911CAMTA1c.1111G>C (p.Asp371His)
c.*962G>C (n.*962G>C)
c.1021G>C (p.Asp341His)
c.1039G>C (p.Asp347His)
c.*880G>C (n.*880G>C)
c.1099G>C (p.Asp367His)
1g.7663658G>TCA338124906CAMTA1c.1111G>T (p.Asp371Tyr)
c.*962G>T (n.*962G>T)
c.1021G>T (p.Asp341Tyr)
c.1039G>T (p.Asp347Tyr)
c.*880G>T (n.*880G>T)
c.1099G>T (p.Asp367Tyr)
1g.7663659A>CCA338124945CAMTA1c.1112A>C (p.Asp371Ala)
c.*963A>C (n.*963A>C)
c.1022A>C (p.Asp341Ala)
c.1040A>C (p.Asp347Ala)
c.*881A>C (n.*881A>C)
c.1100A>C (p.Asp367Ala)
1g.7663659A>GCA338124955CAMTA1c.1112A>G (p.Asp371Gly)
c.*963A>G (n.*963A>G)
c.1022A>G (p.Asp341Gly)
c.1040A>G (p.Asp347Gly)
c.*881A>G (n.*881A>G)
c.1100A>G (p.Asp367Gly)
1g.7663659A>TCA338124960CAMTA1c.1112A>T (p.Asp371Val)
c.*963A>T (n.*963A>T)
c.1022A>T (p.Asp341Val)
c.1040A>T (p.Asp347Val)
c.*881A>T (n.*881A>T)
c.1100A>T (p.Asp367Val)
1g.7663660C>ACA338124981CAMTA1c.1113C>A (p.Asp371Glu)
c.*964C>A (n.*964C>A)
c.1023C>A (p.Asp341Glu)
c.1041C>A (p.Asp347Glu)
c.*882C>A (n.*882C>A)
c.1101C>A (p.Asp367Glu)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.7663660C=CA1144208524CAMTA1c.1113C= (p.Asp371=)
c.*964C= (n.*964C=)
c.1023C= (p.Asp341=)
c.1041C= (p.Asp347=)
c.*882C= (n.*882C=)
c.1101C= (p.Asp367=)
1g.7663660C>GCA338124992CAMTA1c.1113C>G (p.Asp371Glu)
c.*964C>G (n.*964C>G)
c.1023C>G (p.Asp341Glu)
c.1041C>G (p.Asp347Glu)
c.*882C>G (n.*882C>G)
c.1101C>G (p.Asp367Glu)
1g.7663660C>TCA566371CAMTA1c.1113C>T (p.Asp371=)
c.*964C>T (n.*964C>T)
c.1023C>T (p.Asp341=)
c.1041C>T (p.Asp347=)
c.*882C>T (n.*882C>T)
c.1101C>T (p.Asp367=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663661A>CCA338125008CAMTA1c.1114A>C (p.Met372Leu)
c.*965A>C (n.*965A>C)
c.1024A>C (p.Met342Leu)
c.1042A>C (p.Met348Leu)
c.*883A>C (n.*883A>C)
c.1102A>C (p.Met368Leu)
1g.7663661A>GCA338125020CAMTA1c.1114A>G (p.Met372Val)
c.*965A>G (n.*965A>G)
c.1024A>G (p.Met342Val)
c.1042A>G (p.Met348Val)
c.*883A>G (n.*883A>G)
c.1102A>G (p.Met368Val)
gnomAD v4
1g.7663661A>TCA338125021CAMTA1c.1114A>T (p.Met372Leu)
c.*965A>T (n.*965A>T)
c.1024A>T (p.Met342Leu)
c.1042A>T (p.Met348Leu)
c.*883A>T (n.*883A>T)
c.1102A>T (p.Met368Leu)
1g.7663662T>ACA338125025CAMTA1c.1115T>A (p.Met372Lys)
c.*966T>A (n.*966T>A)
c.1025T>A (p.Met342Lys)
c.1043T>A (p.Met348Lys)
c.*884T>A (n.*884T>A)
c.1103T>A (p.Met368Lys)
1g.7663662T>CCA338125027CAMTA1c.1115T>C (p.Met372Thr)
c.*966T>C (n.*966T>C)
c.1025T>C (p.Met342Thr)
c.1043T>C (p.Met348Thr)
c.*884T>C (n.*884T>C)
c.1103T>C (p.Met368Thr)
gnomAD v4
1g.7663662T>GCA338125030CAMTA1c.1115T>G (p.Met372Arg)
c.*966T>G (n.*966T>G)
c.1025T>G (p.Met342Arg)
c.1043T>G (p.Met348Arg)
c.*884T>G (n.*884T>G)
c.1103T>G (p.Met368Arg)
1g.7663665_7663667delCA2592296919CAMTA1c.1118_1120del (p.Val373del)
c.*969_*971del (n.*969_*971del)
c.1028_1030del (p.Val343del)
c.1046_1048del (p.Val349del)
c.*887_*889del (n.*887_*889del)
c.1106_1108del (p.Val369del)
gnomAD v3 gnomAD v4
1g.7663663G>ACA338125039CAMTA1c.1116G>A (p.Met372Ile)
c.*967G>A (n.*967G>A)
c.1026G>A (p.Met342Ile)
c.1044G>A (p.Met348Ile)
c.*885G>A (n.*885G>A)
c.1104G>A (p.Met368Ile)
1g.7663663G>CCA338125037CAMTA1c.1116G>C (p.Met372Ile)
c.*967G>C (n.*967G>C)
c.1026G>C (p.Met342Ile)
c.1044G>C (p.Met348Ile)
c.*885G>C (n.*885G>C)
c.1104G>C (p.Met368Ile)
1g.7663663G>TCA338125038CAMTA1c.1116G>T (p.Met372Ile)
c.*967G>T (n.*967G>T)
c.1026G>T (p.Met342Ile)
c.1044G>T (p.Met348Ile)
c.*885G>T (n.*885G>T)
c.1104G>T (p.Met368Ile)
1g.7663664G>ACA338125045CAMTA1c.1117G>A (p.Val373Met)
c.*968G>A (n.*968G>A)
c.1027G>A (p.Val343Met)
c.1045G>A (p.Val349Met)
c.*886G>A (n.*886G>A)
c.1105G>A (p.Val369Met)
gnomAD v4
1g.7663664G>CCA338125054CAMTA1c.1117G>C (p.Val373Leu)
c.*968G>C (n.*968G>C)
c.1027G>C (p.Val343Leu)
c.1045G>C (p.Val349Leu)
c.*886G>C (n.*886G>C)
c.1105G>C (p.Val369Leu)
1g.7663664G>TCA338125056CAMTA1c.1117G>T (p.Val373Leu)
c.*968G>T (n.*968G>T)
c.1027G>T (p.Val343Leu)
c.1045G>T (p.Val349Leu)
c.*886G>T (n.*886G>T)
c.1105G>T (p.Val369Leu)
1g.7663665T>ACA338125061CAMTA1c.1118T>A (p.Val373Glu)
c.*969T>A (n.*969T>A)
c.1028T>A (p.Val343Glu)
c.1046T>A (p.Val349Glu)
c.*887T>A (n.*887T>A)
c.1106T>A (p.Val369Glu)
1g.7663665T>CCA17244112CAMTA1c.1118T>C (p.Val373Ala)
c.*969T>C (n.*969T>C)
c.1028T>C (p.Val343Ala)
c.1046T>C (p.Val349Ala)
c.*887T>C (n.*887T>C)
c.1106T>C (p.Val369Ala)
dbSNP
1g.7663665T>GCA338125069CAMTA1c.1118T>G (p.Val373Gly)
c.*969T>G (n.*969T>G)
c.1028T>G (p.Val343Gly)
c.1046T>G (p.Val349Gly)
c.*887T>G (n.*887T>G)
c.1106T>G (p.Val369Gly)
dbSNP gnomAD v2 gnomAD v4
1g.7663665T=CA1152023689CAMTA1c.1118T= (p.Val373=)
c.*969T= (n.*969T=)
c.1028T= (p.Val343=)
c.1046T= (p.Val349=)
c.*887T= (n.*887T=)
c.1106T= (p.Val369=)
1g.7663666G>ACA416026494CAMTA1c.1119G>A (p.Val373=)
c.*970G>A (n.*970G>A)
c.1029G>A (p.Val343=)
c.1047G>A (p.Val349=)
c.*888G>A (n.*888G>A)
c.1107G>A (p.Val369=)
gnomAD v4
1g.7663666G>CCA416026495CAMTA1c.1119G>C (p.Val373=)
c.*970G>C (n.*970G>C)
c.1029G>C (p.Val343=)
c.1047G>C (p.Val349=)
c.*888G>C (n.*888G>C)
c.1107G>C (p.Val369=)
1g.7663666G>TCA416026497CAMTA1c.1119G>T (p.Val373=)
c.*970G>T (n.*970G>T)
c.1029G>T (p.Val343=)
c.1047G>T (p.Val349=)
c.*888G>T (n.*888G>T)
c.1107G>T (p.Val369=)
1g.7663666_7663667insTACACGGCCTCATTGGTGACCTCTCA2742356573CAMTA1c.1119_1120insTACACGGCCTCATTGGTGACCTCT (p.Val373_Asp374insTyrThrAlaSerLeuValThrSer)
c.*970_*971insTACACGGCCTCATTGGTGACCTCT (n.*970_*971insTACACGGCCTCATTGGTGACCTCT)
c.1029_1030insTACACGGCCTCATTGGTGACCTCT (p.Val343_Asp344insTyrThrAlaSerLeuValThrSer)
c.1047_1048insTACACGGCCTCATTGGTGACCTCT (p.Val349_Asp350insTyrThrAlaSerLeuValThrSer)
c.*888_*889insTACACGGCCTCATTGGTGACCTCT (n.*888_*889insTACACGGCCTCATTGGTGACCTCT)
c.1107_1108insTACACGGCCTCATTGGTGACCTCT (p.Val369_Asp370insTyrThrAlaSerLeuValThrSer)
1g.7663667G>ACA338125082CAMTA1c.1120G>A (p.Asp374Asn)
c.*971G>A (n.*971G>A)
c.1030G>A (p.Asp344Asn)
c.1048G>A (p.Asp350Asn)
c.*889G>A (n.*889G>A)
c.1108G>A (p.Asp370Asn)
1g.7663667G>CCA338125088CAMTA1c.1120G>C (p.Asp374His)
c.*971G>C (n.*971G>C)
c.1030G>C (p.Asp344His)
c.1048G>C (p.Asp350His)
c.*889G>C (n.*889G>C)
c.1108G>C (p.Asp370His)
1g.7663667G>TCA338125095CAMTA1c.1120G>T (p.Asp374Tyr)
c.*971G>T (n.*971G>T)
c.1030G>T (p.Asp344Tyr)
c.1048G>T (p.Asp350Tyr)
c.*889G>T (n.*889G>T)
c.1108G>T (p.Asp370Tyr)
1g.7663668A=CA1152023690CAMTA1c.1121A= (p.Asp374=)
c.*972A= (n.*972A=)
c.1031A= (p.Asp344=)
c.1049A= (p.Asp350=)
c.*890A= (n.*890A=)
c.1109A= (p.Asp370=)
1g.7663668A>CCA338125101CAMTA1c.1121A>C (p.Asp374Ala)
c.*972A>C (n.*972A>C)
c.1031A>C (p.Asp344Ala)
c.1049A>C (p.Asp350Ala)
c.*890A>C (n.*890A>C)
c.1109A>C (p.Asp370Ala)
1g.7663668A>GCA338125102CAMTA1c.1121A>G (p.Asp374Gly)
c.*972A>G (n.*972A>G)
c.1031A>G (p.Asp344Gly)
c.1049A>G (p.Asp350Gly)
c.*890A>G (n.*890A>G)
c.1109A>G (p.Asp370Gly)
1g.7663668A>TCA338125104CAMTA1c.1121A>T (p.Asp374Val)
c.*972A>T (n.*972A>T)
c.1031A>T (p.Asp344Val)
c.1049A>T (p.Asp350Val)
c.*890A>T (n.*890A>T)
c.1109A>T (p.Asp370Val)
dbSNP gnomAD v2 gnomAD v4
1g.7663669C>ACA338125109CAMTA1c.1122C>A (p.Asp374Glu)
c.*973C>A (n.*973C>A)
c.1032C>A (p.Asp344Glu)
c.1050C>A (p.Asp350Glu)
c.*891C>A (n.*891C>A)
c.1110C>A (p.Asp370Glu)
1g.7663669C>GCA338125105CAMTA1c.1122C>G (p.Asp374Glu)
c.*973C>G (n.*973C>G)
c.1032C>G (p.Asp344Glu)
c.1050C>G (p.Asp350Glu)
c.*891C>G (n.*891C>G)
c.1110C>G (p.Asp370Glu)
1g.7663669C>TCA416026500CAMTA1c.1122C>T (p.Asp374=)
c.*973C>T (n.*973C>T)
c.1032C>T (p.Asp344=)
c.1050C>T (p.Asp350=)
c.*891C>T (n.*891C>T)
c.1110C>T (p.Asp370=)
1g.7663670A>CCA338125119CAMTA1c.1123A>C (p.Ser375Arg)
c.*974A>C (n.*974A>C)
c.1033A>C (p.Ser345Arg)
c.1051A>C (p.Ser351Arg)
c.*892A>C (n.*892A>C)
c.1111A>C (p.Ser371Arg)
1g.7663670A>GCA338125125CAMTA1c.1123A>G (p.Ser375Gly)
c.*974A>G (n.*974A>G)
c.1033A>G (p.Ser345Gly)
c.1051A>G (p.Ser351Gly)
c.*892A>G (n.*892A>G)
c.1111A>G (p.Ser371Gly)
1g.7663670A>TCA338125126CAMTA1c.1123A>T (p.Ser375Cys)
c.*974A>T (n.*974A>T)
c.1033A>T (p.Ser345Cys)
c.1051A>T (p.Ser351Cys)
c.*892A>T (n.*892A>T)
c.1111A>T (p.Ser371Cys)
1g.7663671G>ACA338125127CAMTA1c.1124G>A (p.Ser375Asn)
c.*975G>A (n.*975G>A)
c.1034G>A (p.Ser345Asn)
c.1052G>A (p.Ser351Asn)
c.*893G>A (n.*893G>A)
c.1112G>A (p.Ser371Asn)
1g.7663671G>CCA338125128CAMTA1c.1124G>C (p.Ser375Thr)
c.*975G>C (n.*975G>C)
c.1034G>C (p.Ser345Thr)
c.1052G>C (p.Ser351Thr)
c.*893G>C (n.*893G>C)
c.1112G>C (p.Ser371Thr)
1g.7663671G>TCA338125132CAMTA1c.1124G>T (p.Ser375Ile)
c.*975G>T (n.*975G>T)
c.1034G>T (p.Ser345Ile)
c.1052G>T (p.Ser351Ile)
c.*893G>T (n.*893G>T)
c.1112G>T (p.Ser371Ile)
1g.7663672C>ACA338125136CAMTA1c.1125C>A (p.Ser375Arg)
c.*976C>A (n.*976C>A)
c.1035C>A (p.Ser345Arg)
c.1053C>A (p.Ser351Arg)
c.*894C>A (n.*894C>A)
c.1113C>A (p.Ser371Arg)
1g.7663672C=CA1152023691CAMTA1c.1125C= (p.Ser375=)
c.*976C= (n.*976C=)
c.1035C= (p.Ser345=)
c.1053C= (p.Ser351=)
c.*894C= (n.*894C=)
c.1113C= (p.Ser371=)
1g.7663672C>GCA338125154CAMTA1c.1125C>G (p.Ser375Arg)
c.*976C>G (n.*976C>G)
c.1035C>G (p.Ser345Arg)
c.1053C>G (p.Ser351Arg)
c.*894C>G (n.*894C>G)
c.1113C>G (p.Ser371Arg)
1g.7663672C>TCA416026504CAMTA1c.1125C>T (p.Ser375=)
c.*976C>T (n.*976C>T)
c.1035C>T (p.Ser345=)
c.1053C>T (p.Ser351=)
c.*894C>T (n.*894C>T)
c.1113C>T (p.Ser371=)
dbSNP gnomAD v4
1g.7663673C>ACA338125169CAMTA1c.1126C>A (p.Pro376Thr)
c.*977C>A (n.*977C>A)
c.1036C>A (p.Pro346Thr)
c.1054C>A (p.Pro352Thr)
c.*895C>A (n.*895C>A)
c.1114C>A (p.Pro372Thr)
1g.7663673C=CA1152023692CAMTA1c.1126C= (p.Pro376=)
c.*977C= (n.*977C=)
c.1036C= (p.Pro346=)
c.1054C= (p.Pro352=)
c.*895C= (n.*895C=)
c.1114C= (p.Pro372=)
1g.7663673C>GCA566372CAMTA1c.1126C>G (p.Pro376Ala)
c.*977C>G (n.*977C>G)
c.1036C>G (p.Pro346Ala)
c.1054C>G (p.Pro352Ala)
c.*895C>G (n.*895C>G)
c.1114C>G (p.Pro372Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663673C>TCA338125174CAMTA1c.1126C>T (p.Pro376Ser)
c.*977C>T (n.*977C>T)
c.1036C>T (p.Pro346Ser)
c.1054C>T (p.Pro352Ser)
c.*895C>T (n.*895C>T)
c.1114C>T (p.Pro372Ser)
1g.7663674C>ACA338125191CAMTA1c.1127C>A (p.Pro376Gln)
c.*978C>A (n.*978C>A)
c.1037C>A (p.Pro346Gln)
c.1055C>A (p.Pro352Gln)
c.*896C>A (n.*896C>A)
c.1115C>A (p.Pro372Gln)
1g.7663674C=CA1152023693CAMTA1c.1127C= (p.Pro376=)
c.*978C= (n.*978C=)
c.1037C= (p.Pro346=)
c.1055C= (p.Pro352=)
c.*896C= (n.*896C=)
c.1115C= (p.Pro372=)
1g.7663674C>GCA338125198CAMTA1c.1127C>G (p.Pro376Arg)
c.*978C>G (n.*978C>G)
c.1037C>G (p.Pro346Arg)
c.1055C>G (p.Pro352Arg)
c.*896C>G (n.*896C>G)
c.1115C>G (p.Pro372Arg)
1g.7663674C>TCA566373CAMTA1c.1127C>T (p.Pro376Leu)
c.*978C>T (n.*978C>T)
c.1037C>T (p.Pro346Leu)
c.1055C>T (p.Pro352Leu)
c.*896C>T (n.*896C>T)
c.1115C>T (p.Pro372Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663675G>ACA566374CAMTA1c.1128G>A (p.Pro376=)
c.*979G>A (n.*979G>A)
c.1038G>A (p.Pro346=)
c.1056G>A (p.Pro352=)
c.*897G>A (n.*897G>A)
c.1116G>A (p.Pro372=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663675G>CCA416026508CAMTA1c.1128G>C (p.Pro376=)
c.*979G>C (n.*979G>C)
c.1038G>C (p.Pro346=)
c.1056G>C (p.Pro352=)
c.*897G>C (n.*897G>C)
c.1116G>C (p.Pro372=)
1g.7663675G=CA1152023694CAMTA1c.1128G= (p.Pro376=)
c.*979G= (n.*979G=)
c.1038G= (p.Pro346=)
c.1056G= (p.Pro352=)
c.*897G= (n.*897G=)
c.1116G= (p.Pro372=)
1g.7663675G>TCA416026506CAMTA1c.1128G>T (p.Pro376=)
c.*979G>T (n.*979G>T)
c.1038G>T (p.Pro346=)
c.1056G>T (p.Pro352=)
c.*897G>T (n.*897G>T)
c.1116G>T (p.Pro372=)
1g.7663676G>ACA338125199CAMTA1c.1129G>A (p.Val377Met)
c.*980G>A (n.*980G>A)
c.1039G>A (p.Val347Met)
c.1057G>A (p.Val353Met)
c.*898G>A (n.*898G>A)
c.1117G>A (p.Val373Met)
1g.7663676G>CCA338125202CAMTA1c.1129G>C (p.Val377Leu)
c.*980G>C (n.*980G>C)
c.1039G>C (p.Val347Leu)
c.1057G>C (p.Val353Leu)
c.*898G>C (n.*898G>C)
c.1117G>C (p.Val373Leu)
1g.7663676G>TCA338125200CAMTA1c.1129G>T (p.Val377Leu)
c.*980G>T (n.*980G>T)
c.1039G>T (p.Val347Leu)
c.1057G>T (p.Val353Leu)
c.*898G>T (n.*898G>T)
c.1117G>T (p.Val373Leu)
1g.7663677T>ACA338125203CAMTA1c.1130T>A (p.Val377Glu)
c.*981T>A (n.*981T>A)
c.1040T>A (p.Val347Glu)
c.1058T>A (p.Val353Glu)
c.*899T>A (n.*899T>A)
c.1118T>A (p.Val373Glu)
1g.7663677T>CCA338125209CAMTA1c.1130T>C (p.Val377Ala)
c.*981T>C (n.*981T>C)
c.1040T>C (p.Val347Ala)
c.1058T>C (p.Val353Ala)
c.*899T>C (n.*899T>C)
c.1118T>C (p.Val373Ala)
COSMIC
1g.7663677T>GCA338125212CAMTA1c.1130T>G (p.Val377Gly)
c.*981T>G (n.*981T>G)
c.1040T>G (p.Val347Gly)
c.1058T>G (p.Val353Gly)
c.*899T>G (n.*899T>G)
c.1118T>G (p.Val373Gly)
1g.7663677T=CA1152023695CAMTA1c.1130T= (p.Val377=)
c.*981T= (n.*981T=)
c.1040T= (p.Val347=)
c.1058T= (p.Val353=)
c.*899T= (n.*899T=)
c.1118T= (p.Val373=)
1g.7663678G>ACA416026513CAMTA1c.1131G>A (p.Val377=)
c.*982G>A (n.*982G>A)
c.1041G>A (p.Val347=)
c.1059G>A (p.Val353=)
c.*900G>A (n.*900G>A)
c.1119G>A (p.Val373=)
1g.7663678G>CCA416026514CAMTA1c.1131G>C (p.Val377=)
c.*982G>C (n.*982G>C)
c.1041G>C (p.Val347=)
c.1059G>C (p.Val353=)
c.*900G>C (n.*900G>C)
c.1119G>C (p.Val373=)
1g.7663678G>TCA416026515CAMTA1c.1131G>T (p.Val377=)
c.*982G>T (n.*982G>T)
c.1041G>T (p.Val347=)
c.1059G>T (p.Val353=)
c.*900G>T (n.*900G>T)
c.1119G>T (p.Val373=)
1g.7663679dupCA16617189CAMTA1c.1132dup (p.Val378GlyfsTer30)
c.*983dup (n.*983dup)
c.1042dup (p.Val348GlyfsTer30)
c.1060dup (p.Val354GlyfsTer30)
c.*901dup (n.*901dup)
c.1120dup (p.Val374GlyfsTer30)
ClinVar dbSNP
1g.7663679G>ACA338125216CAMTA1c.1132G>A (p.Val378Ile)
c.*983G>A (n.*983G>A)
c.1042G>A (p.Val348Ile)
c.1060G>A (p.Val354Ile)
c.*901G>A (n.*901G>A)
c.1120G>A (p.Val374Ile)
dbSNP gnomAD v3 gnomAD v4
1g.7663679G>CCA338125221CAMTA1c.1132G>C (p.Val378Leu)
c.*983G>C (n.*983G>C)
c.1042G>C (p.Val348Leu)
c.1060G>C (p.Val354Leu)
c.*901G>C (n.*901G>C)
c.1120G>C (p.Val374Leu)
1g.7663679G=CA1152023696CAMTA1c.1132G= (p.Val378=)
c.*983G= (n.*983G=)
c.1042G= (p.Val348=)
c.1060G= (p.Val354=)
c.*901G= (n.*901G=)
c.1120G= (p.Val374=)
1g.7663679G>TCA338125222CAMTA1c.1132G>T (p.Val378Phe)
c.*983G>T (n.*983G>T)
c.1042G>T (p.Val348Phe)
c.1060G>T (p.Val354Phe)
c.*901G>T (n.*901G>T)
c.1120G>T (p.Val374Phe)
1g.7663680T>ACA338125229CAMTA1c.1133T>A (p.Val378Asp)
c.*984T>A (n.*984T>A)
c.1043T>A (p.Val348Asp)
c.1061T>A (p.Val354Asp)
c.*902T>A (n.*902T>A)
c.1121T>A (p.Val374Asp)
1g.7663680T>CCA338125236CAMTA1c.1133T>C (p.Val378Ala)
c.*984T>C (n.*984T>C)
c.1043T>C (p.Val348Ala)
c.1061T>C (p.Val354Ala)
c.*902T>C (n.*902T>C)
c.1121T>C (p.Val374Ala)
dbSNP
1g.7663680T>GCA338125240CAMTA1c.1133T>G (p.Val378Gly)
c.*984T>G (n.*984T>G)
c.1043T>G (p.Val348Gly)
c.1061T>G (p.Val354Gly)
c.*902T>G (n.*902T>G)
c.1121T>G (p.Val374Gly)
1g.7663680T=CA1152023697CAMTA1c.1133T= (p.Val378=)
c.*984T= (n.*984T=)
c.1043T= (p.Val348=)
c.1061T= (p.Val354=)
c.*902T= (n.*902T=)
c.1121T= (p.Val374=)
1g.7663681C>ACA416026517CAMTA1c.1134C>A (p.Val378=)
c.*985C>A (n.*985C>A)
c.1044C>A (p.Val348=)
c.1062C>A (p.Val354=)
c.*903C>A (n.*903C>A)
c.1122C>A (p.Val374=)
1g.7663681C=CA1152023698CAMTA1c.1134C= (p.Val378=)
c.*985C= (n.*985C=)
c.1044C= (p.Val348=)
c.1062C= (p.Val354=)
c.*903C= (n.*903C=)
c.1122C= (p.Val374=)
1g.7663681C>GCA416026518CAMTA1c.1134C>G (p.Val378=)
c.*985C>G (n.*985C>G)
c.1044C>G (p.Val348=)
c.1062C>G (p.Val354=)
c.*903C>G (n.*903C>G)
c.1122C>G (p.Val374=)
dbSNP
1g.7663681C>TCA416026519CAMTA1c.1134C>T (p.Val378=)
c.*985C>T (n.*985C>T)
c.1044C>T (p.Val348=)
c.1062C>T (p.Val354=)
c.*903C>T (n.*903C>T)
c.1122C>T (p.Val374=)
1g.7663682A>CCA338125246CAMTA1c.1135A>C (p.Thr379Pro)
c.*986A>C (n.*986A>C)
c.1045A>C (p.Thr349Pro)
c.1063A>C (p.Thr355Pro)
c.*904A>C (n.*904A>C)
c.1123A>C (p.Thr375Pro)
1g.7663682A>GCA338125247CAMTA1c.1135A>G (p.Thr379Ala)
c.*986A>G (n.*986A>G)
c.1045A>G (p.Thr349Ala)
c.1063A>G (p.Thr355Ala)
c.*904A>G (n.*904A>G)
c.1123A>G (p.Thr375Ala)
1g.7663682A>TCA338125252CAMTA1c.1135A>T (p.Thr379Ser)
c.*986A>T (n.*986A>T)
c.1045A>T (p.Thr349Ser)
c.1063A>T (p.Thr355Ser)
c.*904A>T (n.*904A>T)
c.1123A>T (p.Thr375Ser)
1g.7663683C>ACA338125254CAMTA1c.1136C>A (p.Thr379Lys)
c.*987C>A (n.*987C>A)
c.1046C>A (p.Thr349Lys)
c.1064C>A (p.Thr355Lys)
c.*905C>A (n.*905C>A)
c.1124C>A (p.Thr375Lys)
1g.7663683C>GCA338125260CAMTA1c.1136C>G (p.Thr379Arg)
c.*987C>G (n.*987C>G)
c.1046C>G (p.Thr349Arg)
c.1064C>G (p.Thr355Arg)
c.*905C>G (n.*905C>G)
c.1124C>G (p.Thr375Arg)
1g.7663683C>TCA338125256CAMTA1c.1136C>T (p.Thr379Ile)
c.*987C>T (n.*987C>T)
c.1046C>T (p.Thr349Ile)
c.1064C>T (p.Thr355Ile)
c.*905C>T (n.*905C>T)
c.1124C>T (p.Thr375Ile)
1g.7663684A=CA1152023699CAMTA1c.1137A= (p.Thr379=)
c.*988A= (n.*988A=)
c.1047A= (p.Thr349=)
c.1065A= (p.Thr355=)
c.*906A= (n.*906A=)
c.1125A= (p.Thr375=)
1g.7663684A>CCA416026524CAMTA1c.1137A>C (p.Thr379=)
c.*988A>C (n.*988A>C)
c.1047A>C (p.Thr349=)
c.1065A>C (p.Thr355=)
c.*906A>C (n.*906A>C)
c.1125A>C (p.Thr375=)
1g.7663684A>GCA17244136CAMTA1c.1137A>G (p.Thr379=)
c.*988A>G (n.*988A>G)
c.1047A>G (p.Thr349=)
c.1065A>G (p.Thr355=)
c.*906A>G (n.*906A>G)
c.1125A>G (p.Thr375=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7663684A>TCA416026523CAMTA1c.1137A>T (p.Thr379=)
c.*988A>T (n.*988A>T)
c.1047A>T (p.Thr349=)
c.1065A>T (p.Thr355=)
c.*906A>T (n.*906A>T)
c.1125A>T (p.Thr375=)
1g.7663685G>ACA338125271CAMTA1c.1138G>A (p.Gly380Ser)
c.*989G>A (n.*989G>A)
c.1048G>A (p.Gly350Ser)
c.1066G>A (p.Gly356Ser)
c.*907G>A (n.*907G>A)
c.1126G>A (p.Gly376Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.7663685G>CCA338125283CAMTA1c.1138G>C (p.Gly380Arg)
c.*989G>C (n.*989G>C)
c.1048G>C (p.Gly350Arg)
c.1066G>C (p.Gly356Arg)
c.*907G>C (n.*907G>C)
c.1126G>C (p.Gly376Arg)
1g.7663685G=CA1152023700CAMTA1c.1138G= (p.Gly380=)
c.*989G= (n.*989G=)
c.1048G= (p.Gly350=)
c.1066G= (p.Gly356=)
c.*907G= (n.*907G=)
c.1126G= (p.Gly376=)
1g.7663685G>TCA338125289CAMTA1c.1138G>T (p.Gly380Cys)
c.*989G>T (n.*989G>T)
c.1048G>T (p.Gly350Cys)
c.1066G>T (p.Gly356Cys)
c.*907G>T (n.*907G>T)
c.1126G>T (p.Gly376Cys)
1g.7663686G>ACA566375CAMTA1c.1139G>A (p.Gly380Asp)
c.*990G>A (n.*990G>A)
c.1049G>A (p.Gly350Asp)
c.1067G>A (p.Gly356Asp)
c.*908G>A (n.*908G>A)
c.1127G>A (p.Gly376Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663686G>CCA338125297CAMTA1c.1139G>C (p.Gly380Ala)
c.*990G>C (n.*990G>C)
c.1049G>C (p.Gly350Ala)
c.1067G>C (p.Gly356Ala)
c.*908G>C (n.*908G>C)
c.1127G>C (p.Gly376Ala)
1g.7663686G=CA1152023701CAMTA1c.1139G= (p.Gly380=)
c.*990G= (n.*990G=)
c.1049G= (p.Gly350=)
c.1067G= (p.Gly356=)
c.*908G= (n.*908G=)
c.1127G= (p.Gly376=)
1g.7663686G>TCA338125302CAMTA1c.1139G>T (p.Gly380Val)
c.*990G>T (n.*990G>T)
c.1049G>T (p.Gly350Val)
c.1067G>T (p.Gly356Val)
c.*908G>T (n.*908G>T)
c.1127G>T (p.Gly376Val)
1g.7663687T>ACA416026526CAMTA1c.1140T>A (p.Gly380=)
c.*991T>A (n.*991T>A)
c.1050T>A (p.Gly350=)
c.1068T>A (p.Gly356=)
c.*909T>A (n.*909T>A)
c.1128T>A (p.Gly376=)
1g.7663687T>CCA416026528CAMTA1c.1140T>C (p.Gly380=)
c.*991T>C (n.*991T>C)
c.1050T>C (p.Gly350=)
c.1068T>C (p.Gly356=)
c.*909T>C (n.*909T>C)
c.1128T>C (p.Gly376=)
gnomAD v4
1g.7663687T>GCA416026529CAMTA1c.1140T>G (p.Gly380=)
c.*991T>G (n.*991T>G)
c.1050T>G (p.Gly350=)
c.1068T>G (p.Gly356=)
c.*909T>G (n.*909T>G)
c.1128T>G (p.Gly376=)
1g.7663688G>ACA338125308CAMTA1c.1141G>A (p.Val381Met)
c.*992G>A (n.*992G>A)
c.1051G>A (p.Val351Met)
c.1069G>A (p.Val357Met)
c.*910G>A (n.*910G>A)
c.1129G>A (p.Val377Met)
1g.7663688G>CCA338125321CAMTA1c.1141G>C (p.Val381Leu)
c.*992G>C (n.*992G>C)
c.1051G>C (p.Val351Leu)
c.1069G>C (p.Val357Leu)
c.*910G>C (n.*910G>C)
c.1129G>C (p.Val377Leu)
COSMIC
1g.7663688G>TCA338125334CAMTA1c.1141G>T (p.Val381Leu)
c.*992G>T (n.*992G>T)
c.1051G>T (p.Val351Leu)
c.1069G>T (p.Val357Leu)
c.*910G>T (n.*910G>T)
c.1129G>T (p.Val377Leu)
1g.7663689T>ACA338125339CAMTA1c.1142T>A (p.Val381Glu)
c.*993T>A (n.*993T>A)
c.1052T>A (p.Val351Glu)
c.1070T>A (p.Val357Glu)
c.*911T>A (n.*911T>A)
c.1130T>A (p.Val377Glu)
1g.7663689T>CCA338125343CAMTA1c.1142T>C (p.Val381Ala)
c.*993T>C (n.*993T>C)
c.1052T>C (p.Val351Ala)
c.1070T>C (p.Val357Ala)
c.*911T>C (n.*911T>C)
c.1130T>C (p.Val377Ala)
1g.7663689T>GCA338125347CAMTA1c.1142T>G (p.Val381Gly)
c.*993T>G (n.*993T>G)
c.1052T>G (p.Val351Gly)
c.1070T>G (p.Val357Gly)
c.*911T>G (n.*911T>G)
c.1130T>G (p.Val377Gly)
1g.7663691_7663699delCA2574196933CAMTA1c.1144_1152del (p.Ser382_Met384del)
c.*995_*1003del (n.*995_*1003del)
c.1054_1062del (p.Ser352_Met354del)
c.1072_1080del (p.Ser358_Met360del)
c.*913_*921del (n.*913_*921del)
c.1132_1140del (p.Ser378_Met380del)
1g.7663690G>ACA416026533CAMTA1c.1143G>A (p.Val381=)
c.*994G>A (n.*994G>A)
c.1053G>A (p.Val351=)
c.1071G>A (p.Val357=)
c.*912G>A (n.*912G>A)
c.1131G>A (p.Val377=)
1g.7663690G>CCA416026535CAMTA1c.1143G>C (p.Val381=)
c.*994G>C (n.*994G>C)
c.1053G>C (p.Val351=)
c.1071G>C (p.Val357=)
c.*912G>C (n.*912G>C)
c.1131G>C (p.Val377=)
1g.7663690G>TCA416026538CAMTA1c.1143G>T (p.Val381=)
c.*994G>T (n.*994G>T)
c.1053G>T (p.Val351=)
c.1071G>T (p.Val357=)
c.*912G>T (n.*912G>T)
c.1131G>T (p.Val377=)
1g.7663691T>ACA338125371CAMTA1c.1144T>A (p.Ser382Thr)
c.*995T>A (n.*995T>A)
c.1054T>A (p.Ser352Thr)
c.1072T>A (p.Ser358Thr)
c.*913T>A (n.*913T>A)
c.1132T>A (p.Ser378Thr)
1g.7663691T>CCA338125351CAMTA1c.1144T>C (p.Ser382Pro)
c.*995T>C (n.*995T>C)
c.1054T>C (p.Ser352Pro)
c.1072T>C (p.Ser358Pro)
c.*913T>C (n.*913T>C)
c.1132T>C (p.Ser378Pro)
1g.7663691T>GCA566376CAMTA1c.1144T>G (p.Ser382Ala)
c.*995T>G (n.*995T>G)
c.1054T>G (p.Ser352Ala)
c.1072T>G (p.Ser358Ala)
c.*913T>G (n.*913T>G)
c.1132T>G (p.Ser378Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663691T=CA1143393870CAMTA1c.1144T= (p.Ser382=)
c.*995T= (n.*995T=)
c.1054T= (p.Ser352=)
c.1072T= (p.Ser358=)
c.*913T= (n.*913T=)
c.1132T= (p.Ser378=)
1g.7663692C>ACA338125374CAMTA1c.1145C>A (p.Ser382Tyr)
c.*996C>A (n.*996C>A)
c.1055C>A (p.Ser352Tyr)
c.1073C>A (p.Ser358Tyr)
c.*914C>A (n.*914C>A)
c.1133C>A (p.Ser378Tyr)
1g.7663692C>GCA338125378CAMTA1c.1145C>G (p.Ser382Cys)
c.*996C>G (n.*996C>G)
c.1055C>G (p.Ser352Cys)
c.1073C>G (p.Ser358Cys)
c.*914C>G (n.*914C>G)
c.1133C>G (p.Ser378Cys)
1g.7663692C>TCA338125394CAMTA1c.1145C>T (p.Ser382Phe)
c.*996C>T (n.*996C>T)
c.1055C>T (p.Ser352Phe)
c.1073C>T (p.Ser358Phe)
c.*914C>T (n.*914C>T)
c.1133C>T (p.Ser378Phe)
1g.7663693C>ACA416026539CAMTA1c.1146C>A (p.Ser382=)
c.*997C>A (n.*997C>A)
c.1056C>A (p.Ser352=)
c.1074C>A (p.Ser358=)
c.*915C>A (n.*915C>A)
c.1134C>A (p.Ser378=)
1g.7663693C=CA1152023702CAMTA1c.1146C= (p.Ser382=)
c.*997C= (n.*997C=)
c.1056C= (p.Ser352=)
c.1074C= (p.Ser358=)
c.*915C= (n.*915C=)
c.1134C= (p.Ser378=)
1g.7663693C>GCA416026541CAMTA1c.1146C>G (p.Ser382=)
c.*997C>G (n.*997C>G)
c.1056C>G (p.Ser352=)
c.1074C>G (p.Ser358=)
c.*915C>G (n.*915C>G)
c.1134C>G (p.Ser378=)
1g.7663693C>TCA566377CAMTA1c.1146C>T (p.Ser382=)
c.*997C>T (n.*997C>T)
c.1056C>T (p.Ser352=)
c.1074C>T (p.Ser358=)
c.*915C>T (n.*915C>T)
c.1134C>T (p.Ser378=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663694G>ACA566378CAMTA1c.1147G>A (p.Gly383Ser)
c.*998G>A (n.*998G>A)
c.1057G>A (p.Gly353Ser)
c.1075G>A (p.Gly359Ser)
c.*916G>A (n.*916G>A)
c.1135G>A (p.Gly379Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663694G>CCA338125432CAMTA1c.1147G>C (p.Gly383Arg)
c.*998G>C (n.*998G>C)
c.1057G>C (p.Gly353Arg)
c.1075G>C (p.Gly359Arg)
c.*916G>C (n.*916G>C)
c.1135G>C (p.Gly379Arg)
1g.7663694G=CA1141658007CAMTA1c.1147G= (p.Gly383=)
c.*998G= (n.*998G=)
c.1057G= (p.Gly353=)
c.1075G= (p.Gly359=)
c.*916G= (n.*916G=)
c.1135G= (p.Gly379=)
1g.7663694G>TCA338125436CAMTA1c.1147G>T (p.Gly383Cys)
c.*998G>T (n.*998G>T)
c.1057G>T (p.Gly353Cys)
c.1075G>T (p.Gly359Cys)
c.*916G>T (n.*916G>T)
c.1135G>T (p.Gly379Cys)
1g.7663695G>ACA338125441CAMTA1c.1148G>A (p.Gly383Asp)
c.*999G>A (n.*999G>A)
c.1058G>A (p.Gly353Asp)
c.1076G>A (p.Gly359Asp)
c.*917G>A (n.*917G>A)
c.1136G>A (p.Gly379Asp)
1g.7663695G>CCA338125443CAMTA1c.1148G>C (p.Gly383Ala)
c.*999G>C (n.*999G>C)
c.1058G>C (p.Gly353Ala)
c.1076G>C (p.Gly359Ala)
c.*917G>C (n.*917G>C)
c.1136G>C (p.Gly379Ala)
1g.7663695G>TCA338125455CAMTA1c.1148G>T (p.Gly383Val)
c.*999G>T (n.*999G>T)
c.1058G>T (p.Gly353Val)
c.1076G>T (p.Gly359Val)
c.*917G>T (n.*917G>T)
c.1136G>T (p.Gly379Val)
COSMIC COSMIC
1g.7663696T>ACA416026545CAMTA1c.1149T>A (p.Gly383=)
c.*1000T>A (n.*1000T>A)
c.1059T>A (p.Gly353=)
c.1077T>A (p.Gly359=)
c.*918T>A (n.*918T>A)
c.1137T>A (p.Gly379=)
1g.7663696T>CCA566379CAMTA1c.1149T>C (p.Gly383=)
c.*1000T>C (n.*1000T>C)
c.1059T>C (p.Gly353=)
c.1077T>C (p.Gly359=)
c.*918T>C (n.*918T>C)
c.1137T>C (p.Gly379=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663696T>GCA416026547CAMTA1c.1149T>G (p.Gly383=)
c.*1000T>G (n.*1000T>G)
c.1059T>G (p.Gly353=)
c.1077T>G (p.Gly359=)
c.*918T>G (n.*918T>G)
c.1137T>G (p.Gly379=)
1g.7663696T=CA1147709531CAMTA1c.1149T= (p.Gly383=)
c.*1000T= (n.*1000T=)
c.1059T= (p.Gly353=)
c.1077T= (p.Gly359=)
c.*918T= (n.*918T=)
c.1137T= (p.Gly379=)
1g.7663697A>CCA338125476CAMTA1c.1150A>C (p.Met384Leu)
c.*1001A>C (n.*1001A>C)
c.1060A>C (p.Met354Leu)
c.1078A>C (p.Met360Leu)
c.*919A>C (n.*919A>C)
c.1138A>C (p.Met380Leu)
1g.7663697A>GCA338125484CAMTA1c.1150A>G (p.Met384Val)
c.*1001A>G (n.*1001A>G)
c.1060A>G (p.Met354Val)
c.1078A>G (p.Met360Val)
c.*919A>G (n.*919A>G)
c.1138A>G (p.Met380Val)
1g.7663697A>TCA338125482CAMTA1c.1150A>T (p.Met384Leu)
c.*1001A>T (n.*1001A>T)
c.1060A>T (p.Met354Leu)
c.1078A>T (p.Met360Leu)
c.*919A>T (n.*919A>T)
c.1138A>T (p.Met380Leu)
gnomAD v4
1g.7663698T>ACA338125490CAMTA1c.1151T>A (p.Met384Lys)
c.*1002T>A (n.*1002T>A)
c.1061T>A (p.Met354Lys)
c.1079T>A (p.Met360Lys)
c.*920T>A (n.*920T>A)
c.1139T>A (p.Met380Lys)
1g.7663698T>CCA566380CAMTA1c.1151T>C (p.Met384Thr)
c.*1002T>C (n.*1002T>C)
c.1061T>C (p.Met354Thr)
c.1079T>C (p.Met360Thr)
c.*920T>C (n.*920T>C)
c.1139T>C (p.Met380Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663698T>GCA338125492CAMTA1c.1151T>G (p.Met384Arg)
c.*1002T>G (n.*1002T>G)
c.1061T>G (p.Met354Arg)
c.1079T>G (p.Met360Arg)
c.*920T>G (n.*920T>G)
c.1139T>G (p.Met380Arg)
1g.7663698T=CA1152023703CAMTA1c.1151T= (p.Met384=)
c.*1002T= (n.*1002T=)
c.1061T= (p.Met354=)
c.1079T= (p.Met360=)
c.*920T= (n.*920T=)
c.1139T= (p.Met380=)
1g.7663699G>ACA338125503CAMTA1c.1152G>A (p.Met384Ile)
c.*1003G>A (n.*1003G>A)
c.1062G>A (p.Met354Ile)
c.1080G>A (p.Met360Ile)
c.*921G>A (n.*921G>A)
c.1140G>A (p.Met380Ile)
gnomAD v4
1g.7663699G>CCA338125511CAMTA1c.1152G>C (p.Met384Ile)
c.*1003G>C (n.*1003G>C)
c.1062G>C (p.Met354Ile)
c.1080G>C (p.Met360Ile)
c.*921G>C (n.*921G>C)
c.1140G>C (p.Met380Ile)
1g.7663699G>TCA338125507CAMTA1c.1152G>T (p.Met384Ile)
c.*1003G>T (n.*1003G>T)
c.1062G>T (p.Met354Ile)
c.1080G>T (p.Met360Ile)
c.*921G>T (n.*921G>T)
c.1140G>T (p.Met380Ile)
1g.7663700G>ACA338125543CAMTA1c.1153G>A (p.Ala385Thr)
c.*1004G>A (n.*1004G>A)
c.1063G>A (p.Ala355Thr)
c.1081G>A (p.Ala361Thr)
c.*922G>A (n.*922G>A)
c.1141G>A (p.Ala381Thr)
gnomAD v4
1g.7663700G>CCA338125568CAMTA1c.1153G>C (p.Ala385Pro)
c.*1004G>C (n.*1004G>C)
c.1063G>C (p.Ala355Pro)
c.1081G>C (p.Ala361Pro)
c.*922G>C (n.*922G>C)
c.1141G>C (p.Ala381Pro)
gnomAD v4
1g.7663700G>TCA338125563CAMTA1c.1153G>T (p.Ala385Ser)
c.*1004G>T (n.*1004G>T)
c.1063G>T (p.Ala355Ser)
c.1081G>T (p.Ala361Ser)
c.*922G>T (n.*922G>T)
c.1141G>T (p.Ala381Ser)
1g.7663701C>ACA338125573CAMTA1c.1154C>A (p.Ala385Glu)
c.*1005C>A (n.*1005C>A)
c.1064C>A (p.Ala355Glu)
c.1082C>A (p.Ala361Glu)
c.*923C>A (n.*923C>A)
c.1142C>A (p.Ala381Glu)
ClinVar
1g.7663701C=CA1152023704CAMTA1c.1154C= (p.Ala385=)
c.*1005C= (n.*1005C=)
c.1064C= (p.Ala355=)
c.1082C= (p.Ala361=)
c.*923C= (n.*923C=)
c.1142C= (p.Ala381=)
1g.7663701C>GCA338125577CAMTA1c.1154C>G (p.Ala385Gly)
c.*1005C>G (n.*1005C>G)
c.1064C>G (p.Ala355Gly)
c.1082C>G (p.Ala361Gly)
c.*923C>G (n.*923C>G)
c.1142C>G (p.Ala381Gly)
1g.7663701C>TCA566381CAMTA1c.1154C>T (p.Ala385Val)
c.*1005C>T (n.*1005C>T)
c.1064C>T (p.Ala355Val)
c.1082C>T (p.Ala361Val)
c.*923C>T (n.*923C>T)
c.1142C>T (p.Ala381Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663702G>ACA566382CAMTA1c.1155G>A (p.Ala385=)
c.*1006G>A (n.*1006G>A)
c.1065G>A (p.Ala355=)
c.1083G>A (p.Ala361=)
c.*924G>A (n.*924G>A)
c.1143G>A (p.Ala381=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663702G>CCA416026552CAMTA1c.1155G>C (p.Ala385=)
c.*1006G>C (n.*1006G>C)
c.1065G>C (p.Ala355=)
c.1083G>C (p.Ala361=)
c.*924G>C (n.*924G>C)
c.1143G>C (p.Ala381=)
1g.7663702G=CA1143823222CAMTA1c.1155G= (p.Ala385=)
c.*1006G= (n.*1006G=)
c.1065G= (p.Ala355=)
c.1083G= (p.Ala361=)
c.*924G= (n.*924G=)
c.1143G= (p.Ala381=)
1g.7663702G>TCA416026554CAMTA1c.1155G>T (p.Ala385=)
c.*1006G>T (n.*1006G>T)
c.1065G>T (p.Ala355=)
c.1083G>T (p.Ala361=)
c.*924G>T (n.*924G>T)
c.1143G>T (p.Ala381=)
1g.7663703delCA2580062553CAMTA1c.1156del (p.Val386TrpfsTer4)
c.*1007del (n.*1007del)
c.1066del (p.Val356TrpfsTer4)
c.1084del (p.Val362TrpfsTer4)
c.*925del (n.*925del)
c.1144del (p.Val382TrpfsTer4)
ClinVar dbSNP
1g.7663704_7663706delCA2643031706CAMTA1c.1157_1159del (p.Val386del)
c.*1008_*1010del (n.*1008_*1010del)
c.1067_1069del (p.Val356del)
c.1085_1087del (p.Val362del)
c.*926_*928del (n.*926_*928del)
c.1145_1147del (p.Val382del)
gnomAD v4
1g.7663703G>ACA338125583CAMTA1c.1156G>A (p.Val386Met)
c.*1007G>A (n.*1007G>A)
c.1066G>A (p.Val356Met)
c.1084G>A (p.Val362Met)
c.*925G>A (n.*925G>A)
c.1144G>A (p.Val382Met)
gnomAD v4
1g.7663703G>CCA338125587CAMTA1c.1156G>C (p.Val386Leu)
c.*1007G>C (n.*1007G>C)
c.1066G>C (p.Val356Leu)
c.1084G>C (p.Val362Leu)
c.*925G>C (n.*925G>C)
c.1144G>C (p.Val382Leu)
1g.7663703G>TCA338125591CAMTA1c.1156G>T (p.Val386Leu)
c.*1007G>T (n.*1007G>T)
c.1066G>T (p.Val356Leu)
c.1084G>T (p.Val362Leu)
c.*925G>T (n.*925G>T)
c.1144G>T (p.Val382Leu)
1g.7663704T>ACA338125595CAMTA1c.1157T>A (p.Val386Glu)
c.*1008T>A (n.*1008T>A)
c.1067T>A (p.Val356Glu)
c.1085T>A (p.Val362Glu)
c.*926T>A (n.*926T>A)
c.1145T>A (p.Val382Glu)
1g.7663704T>CCA338125600CAMTA1c.1157T>C (p.Val386Ala)
c.*1008T>C (n.*1008T>C)
c.1067T>C (p.Val356Ala)
c.1085T>C (p.Val362Ala)
c.*926T>C (n.*926T>C)
c.1145T>C (p.Val382Ala)
1g.7663704T>GCA566383CAMTA1c.1157T>G (p.Val386Gly)
c.*1008T>G (n.*1008T>G)
c.1067T>G (p.Val356Gly)
c.1085T>G (p.Val362Gly)
c.*926T>G (n.*926T>G)
c.1145T>G (p.Val382Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663704T=CA1152023705CAMTA1c.1157T= (p.Val386=)
c.*1008T= (n.*1008T=)
c.1067T= (p.Val356=)
c.1085T= (p.Val362=)
c.*926T= (n.*926T=)
c.1145T= (p.Val382=)
1g.7663705G>ACA416026558CAMTA1c.1158G>A (p.Val386=)
c.*1009G>A (n.*1009G>A)
c.1068G>A (p.Val356=)
c.1086G>A (p.Val362=)
c.*927G>A (n.*927G>A)
c.1146G>A (p.Val382=)
1g.7663705G>CCA416026559CAMTA1c.1158G>C (p.Val386=)
c.*1009G>C (n.*1009G>C)
c.1068G>C (p.Val356=)
c.1086G>C (p.Val362=)
c.*927G>C (n.*927G>C)
c.1146G>C (p.Val382=)
1g.7663705G>TCA416026560CAMTA1c.1158G>T (p.Val386=)
c.*1009G>T (n.*1009G>T)
c.1068G>T (p.Val356=)
c.1086G>T (p.Val362=)
c.*927G>T (n.*927G>T)
c.1146G>T (p.Val382=)
1g.7663706G>ACA566385CAMTA1c.1159G>A (p.Ala387Thr)
c.*1010G>A (n.*1010G>A)
c.1069G>A (p.Ala357Thr)
c.1087G>A (p.Ala363Thr)
c.*928G>A (n.*928G>A)
c.1147G>A (p.Ala383Thr)
dbSNP ExAC gnomAD v3 gnomAD v4
1g.7663706G>CCA338125611CAMTA1c.1159G>C (p.Ala387Pro)
c.*1010G>C (n.*1010G>C)
c.1069G>C (p.Ala357Pro)
c.1087G>C (p.Ala363Pro)
c.*928G>C (n.*928G>C)
c.1147G>C (p.Ala383Pro)
1g.7663706G=CA1143369225CAMTA1c.1159G= (p.Ala387=)
c.*1010G= (n.*1010G=)
c.1069G= (p.Ala357=)
c.1087G= (p.Ala363=)
c.*928G= (n.*928G=)
c.1147G= (p.Ala383=)
1g.7663706G>TCA338125614CAMTA1c.1159G>T (p.Ala387Ser)
c.*1010G>T (n.*1010G>T)
c.1069G>T (p.Ala357Ser)
c.1087G>T (p.Ala363Ser)
c.*928G>T (n.*928G>T)
c.1147G>T (p.Ala383Ser)
1g.7663706_7663716delinsGCCTCTGTGATCA1152023706CAMTA1c.1159_1169delinsGCCTCTGTGAT (p.Ala387=)
c.*1010_*1020delinsGCCTCTGTGAT (n.*1010_*1020delinsGCCTCTGTGAT)
c.1069_1079delinsGCCTCTGTGAT (p.Ala357=)
c.1087_1097delinsGCCTCTGTGAT (p.Ala363=)
c.*928_*938delinsGCCTCTGTGAT (n.*928_*938delinsGCCTCTGTGAT)
c.1147_1157delinsGCCTCTGTGAT (p.Ala383=)
1g.7663707C>ACA338125623CAMTA1c.1160C>A (p.Ala387Asp)
c.*1011C>A (n.*1011C>A)
c.1070C>A (p.Ala357Asp)
c.1088C>A (p.Ala363Asp)
c.*929C>A (n.*929C>A)
c.1148C>A (p.Ala383Asp)
1g.7663707C=CA1149112538CAMTA1c.1160C= (p.Ala387=)
c.*1011C= (n.*1011C=)
c.1070C= (p.Ala357=)
c.1088C= (p.Ala363=)
c.*929C= (n.*929C=)
c.1148C= (p.Ala383=)
1g.7663707C>GCA566386CAMTA1c.1160C>G (p.Ala387Gly)
c.*1011C>G (n.*1011C>G)
c.1070C>G (p.Ala357Gly)
c.1088C>G (p.Ala363Gly)
c.*929C>G (n.*929C>G)
c.1148C>G (p.Ala383Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663707C>TCA338125621CAMTA1c.1160C>T (p.Ala387Val)
c.*1011C>T (n.*1011C>T)
c.1070C>T (p.Ala357Val)
c.1088C>T (p.Ala363Val)
c.*929C>T (n.*929C>T)
c.1148C>T (p.Ala383Val)
gnomAD v4
1g.7663707_7663716delCA566384CAMTA1c.1160_1169del (p.Ala387GlyfsTer?)
c.*1011_*1020del (n.*1011_*1020del)
c.1070_1079del (p.Ala357GlyfsTer?)
c.1088_1097del (p.Ala363GlyfsTer?)
c.*929_*938del (n.*929_*938del)
c.1148_1157del (p.Ala383GlyfsTer?)
dbSNP ExAC gnomAD v2
1g.7663708C>ACA416026567CAMTA1c.1161C>A (p.Ala387=)
c.*1012C>A (n.*1012C>A)
c.1071C>A (p.Ala357=)
c.1089C>A (p.Ala363=)
c.*930C>A (n.*930C>A)
c.1149C>A (p.Ala383=)
1g.7663708C=CA1152023707CAMTA1c.1161C= (p.Ala387=)
c.*1012C= (n.*1012C=)
c.1071C= (p.Ala357=)
c.1089C= (p.Ala363=)
c.*930C= (n.*930C=)
c.1149C= (p.Ala383=)
1g.7663708C>GCA416026568CAMTA1c.1161C>G (p.Ala387=)
c.*1012C>G (n.*1012C>G)
c.1071C>G (p.Ala357=)
c.1089C>G (p.Ala363=)
c.*930C>G (n.*930C>G)
c.1149C>G (p.Ala383=)
1g.7663708C>TCA566387CAMTA1c.1161C>T (p.Ala387=)
c.*1012C>T (n.*1012C>T)
c.1071C>T (p.Ala357=)
c.1089C>T (p.Ala363=)
c.*930C>T (n.*930C>T)
c.1149C>T (p.Ala383=)
dbSNP ExAC gnomAD v2
1g.7663709T>ACA338125626CAMTA1c.1162T>A (p.Ser388Thr)
c.*1013T>A (n.*1013T>A)
c.1072T>A (p.Ser358Thr)
c.1090T>A (p.Ser364Thr)
c.*931T>A (n.*931T>A)
c.1150T>A (p.Ser384Thr)
1g.7663709T>CCA338125629CAMTA1c.1162T>C (p.Ser388Pro)
c.*1013T>C (n.*1013T>C)
c.1072T>C (p.Ser358Pro)
c.1090T>C (p.Ser364Pro)
c.*931T>C (n.*931T>C)
c.1150T>C (p.Ser384Pro)
1g.7663709T>GCA338125633CAMTA1c.1162T>G (p.Ser388Ala)
c.*1013T>G (n.*1013T>G)
c.1072T>G (p.Ser358Ala)
c.1090T>G (p.Ser364Ala)
c.*931T>G (n.*931T>G)
c.1150T>G (p.Ser384Ala)
1g.7663710C>ACA338125647CAMTA1c.1163C>A (p.Ser388Tyr)
c.*1014C>A (n.*1014C>A)
c.1073C>A (p.Ser358Tyr)
c.1091C>A (p.Ser364Tyr)
c.*932C>A (n.*932C>A)
c.1151C>A (p.Ser384Tyr)
1g.7663710C>GCA338125651CAMTA1c.1163C>G (p.Ser388Cys)
c.*1014C>G (n.*1014C>G)
c.1073C>G (p.Ser358Cys)
c.1091C>G (p.Ser364Cys)
c.*932C>G (n.*932C>G)
c.1151C>G (p.Ser384Cys)
1g.7663710C>TCA338125659CAMTA1c.1163C>T (p.Ser388Phe)
c.*1014C>T (n.*1014C>T)
c.1073C>T (p.Ser358Phe)
c.1091C>T (p.Ser364Phe)
c.*932C>T (n.*932C>T)
c.1151C>T (p.Ser384Phe)
1g.7663711T>ACA416026571CAMTA1c.1164T>A (p.Ser388=)
c.*1015T>A (n.*1015T>A)
c.1074T>A (p.Ser358=)
c.1092T>A (p.Ser364=)
c.*933T>A (n.*933T>A)
c.1152T>A (p.Ser384=)
1g.7663711T>CCA416026572CAMTA1c.1164T>C (p.Ser388=)
c.*1015T>C (n.*1015T>C)
c.1074T>C (p.Ser358=)
c.1092T>C (p.Ser364=)
c.*933T>C (n.*933T>C)
c.1152T>C (p.Ser384=)
gnomAD v3 gnomAD v4
1g.7663711T>GCA416026574CAMTA1c.1164T>G (p.Ser388=)
c.*1015T>G (n.*1015T>G)
c.1074T>G (p.Ser358=)
c.1092T>G (p.Ser364=)
c.*933T>G (n.*933T>G)
c.1152T>G (p.Ser384=)
1g.7663712G>ACA338125669CAMTA1c.1165G>A (p.Val389Met)
c.*1016G>A (n.*1016G>A)
c.1075G>A (p.Val359Met)
c.1093G>A (p.Val365Met)
c.*934G>A (n.*934G>A)
c.1153G>A (p.Val385Met)
1g.7663712G>CCA338125673CAMTA1c.1165G>C (p.Val389Leu)
c.*1016G>C (n.*1016G>C)
c.1075G>C (p.Val359Leu)
c.1093G>C (p.Val365Leu)
c.*934G>C (n.*934G>C)
c.1153G>C (p.Val385Leu)
1g.7663712G=CA1152023708CAMTA1c.1165G= (p.Val389=)
c.*1016G= (n.*1016G=)
c.1075G= (p.Val359=)
c.1093G= (p.Val365=)
c.*934G= (n.*934G=)
c.1153G= (p.Val385=)
1g.7663712G>TCA566388CAMTA1c.1165G>T (p.Val389Leu)
c.*1016G>T (n.*1016G>T)
c.1075G>T (p.Val359Leu)
c.1093G>T (p.Val365Leu)
c.*934G>T (n.*934G>T)
c.1153G>T (p.Val385Leu)
dbSNP ExAC
1g.7663712_7663716delinsGTGATCA1152023709CAMTA1c.1165_1169delinsGTGAT (p.Val389=)
c.*1016_*1020delinsGTGAT (n.*1016_*1020delinsGTGAT)
c.1075_1079delinsGTGAT (p.Val359=)
c.1093_1097delinsGTGAT (p.Val365=)
c.*934_*938delinsGTGAT (n.*934_*938delinsGTGAT)
c.1153_1157delinsGTGAT (p.Val385=)
1g.7663713T>ACA338125701CAMTA1c.1166T>A (p.Val389Glu)
c.*1017T>A (n.*1017T>A)
c.1076T>A (p.Val359Glu)
c.1094T>A (p.Val365Glu)
c.*935T>A (n.*935T>A)
c.1154T>A (p.Val385Glu)
1g.7663713T>CCA338125705CAMTA1c.1166T>C (p.Val389Ala)
c.*1017T>C (n.*1017T>C)
c.1076T>C (p.Val359Ala)
c.1094T>C (p.Val365Ala)
c.*935T>C (n.*935T>C)
c.1154T>C (p.Val385Ala)
1g.7663713T>GCA338125704CAMTA1c.1166T>G (p.Val389Gly)
c.*1017T>G (n.*1017T>G)
c.1076T>G (p.Val359Gly)
c.1094T>G (p.Val365Gly)
c.*935T>G (n.*935T>G)
c.1154T>G (p.Val385Gly)
1g.7663713_7663716delCA916101776CAMTA1c.1166_1169del (p.Val389GlyfsTer?)
c.*1017_*1020del (n.*1017_*1020del)
c.1076_1079del (p.Val359GlyfsTer?)
c.1094_1097del (p.Val365GlyfsTer?)
c.*935_*938del (n.*935_*938del)
c.1154_1157del (p.Val385GlyfsTer?)
dbSNP
1g.7663714G>ACA416026581CAMTA1c.1167G>A (p.Val389=)
c.*1018G>A (n.*1018G>A)
c.1077G>A (p.Val359=)
c.1095G>A (p.Val365=)
c.*936G>A (n.*936G>A)
c.1155G>A (p.Val385=)
1g.7663714G>CCA416026582CAMTA1c.1167G>C (p.Val389=)
c.*1018G>C (n.*1018G>C)
c.1077G>C (p.Val359=)
c.1095G>C (p.Val365=)
c.*936G>C (n.*936G>C)
c.1155G>C (p.Val385=)
1g.7663714G>TCA416026580CAMTA1c.1167G>T (p.Val389=)
c.*1018G>T (n.*1018G>T)
c.1077G>T (p.Val359=)
c.1095G>T (p.Val365=)
c.*936G>T (n.*936G>T)
c.1155G>T (p.Val385=)
1g.7663715A>CCA338125706CAMTA1c.1168A>C (p.Met390Leu)
c.*1019A>C (n.*1019A>C)
c.1078A>C (p.Met360Leu)
c.1096A>C (p.Met366Leu)
c.*937A>C (n.*937A>C)
c.1156A>C (p.Met386Leu)
1g.7663715A>GCA338125707CAMTA1c.1168A>G (p.Met390Val)
c.*1019A>G (n.*1019A>G)
c.1078A>G (p.Met360Val)
c.1096A>G (p.Met366Val)
c.*937A>G (n.*937A>G)
c.1156A>G (p.Met386Val)
1g.7663715A>TCA338125708CAMTA1c.1168A>T (p.Met390Leu)
c.*1019A>T (n.*1019A>T)
c.1078A>T (p.Met360Leu)
c.1096A>T (p.Met366Leu)
c.*937A>T (n.*937A>T)
c.1156A>T (p.Met386Leu)
1g.7663716T>ACA338125715CAMTA1c.1169T>A (p.Met390Lys)
c.*1020T>A (n.*1020T>A)
c.1079T>A (p.Met360Lys)
c.1097T>A (p.Met366Lys)
c.*938T>A (n.*938T>A)
c.1157T>A (p.Met386Lys)
1g.7663716T>CCA338125717CAMTA1c.1169T>C (p.Met390Thr)
c.*1020T>C (n.*1020T>C)
c.1079T>C (p.Met360Thr)
c.1097T>C (p.Met366Thr)
c.*938T>C (n.*938T>C)
c.1157T>C (p.Met386Thr)
dbSNP gnomAD v3 gnomAD v4
1g.7663716T>GCA338125720CAMTA1c.1169T>G (p.Met390Arg)
c.*1020T>G (n.*1020T>G)
c.1079T>G (p.Met360Arg)
c.1097T>G (p.Met366Arg)
c.*938T>G (n.*938T>G)
c.1157T>G (p.Met386Arg)
1g.7663716T=CA1152023710CAMTA1c.1169T= (p.Met390=)
c.*1020T= (n.*1020T=)
c.1079T= (p.Met360=)
c.1097T= (p.Met366=)
c.*938T= (n.*938T=)
c.1157T= (p.Met386=)
1g.7663717G>ACA338125727CAMTA1c.1170G>A (p.Met390Ile)
c.*1021G>A (n.*1021G>A)
c.1080G>A (p.Met360Ile)
c.1098G>A (p.Met366Ile)
c.*939G>A (n.*939G>A)
c.1158G>A (p.Met386Ile)
gnomAD v4
1g.7663717G>CCA338125733CAMTA1c.1170G>C (p.Met390Ile)
c.*1021G>C (n.*1021G>C)
c.1080G>C (p.Met360Ile)
c.1098G>C (p.Met366Ile)
c.*939G>C (n.*939G>C)
c.1158G>C (p.Met386Ile)
1g.7663717G>TCA338125738CAMTA1c.1170G>T (p.Met390Ile)
c.*1021G>T (n.*1021G>T)
c.1080G>T (p.Met360Ile)
c.1098G>T (p.Met366Ile)
c.*939G>T (n.*939G>T)
c.1158G>T (p.Met386Ile)
1g.7663718G>ACA338125742CAMTA1c.1171G>A (p.Gly391Arg)
c.*1022G>A (n.*1022G>A)
c.1081G>A (p.Gly361Arg)
c.1099G>A (p.Gly367Arg)
c.*940G>A (n.*940G>A)
c.1159G>A (p.Gly387Arg)
ClinVar COSMIC COSMIC
1g.7663718G>CCA338125744CAMTA1c.1171G>C (p.Gly391Arg)
c.*1022G>C (n.*1022G>C)
c.1081G>C (p.Gly361Arg)
c.1099G>C (p.Gly367Arg)
c.*940G>C (n.*940G>C)
c.1159G>C (p.Gly387Arg)
1g.7663718G>TCA338125746CAMTA1c.1171G>T (p.Gly391Trp)
c.*1022G>T (n.*1022G>T)
c.1081G>T (p.Gly361Trp)
c.1099G>T (p.Gly367Trp)
c.*940G>T (n.*940G>T)
c.1159G>T (p.Gly387Trp)
1g.7663719G>ACA566389CAMTA1c.1172G>A (p.Gly391Glu)
c.*1023G>A (n.*1023G>A)
c.1082G>A (p.Gly361Glu)
c.1100G>A (p.Gly367Glu)
c.*941G>A (n.*941G>A)
c.1160G>A (p.Gly387Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.7663719G>CCA338125754CAMTA1c.1172G>C (p.Gly391Ala)
c.*1023G>C (n.*1023G>C)
c.1082G>C (p.Gly361Ala)
c.1100G>C (p.Gly367Ala)
c.*941G>C (n.*941G>C)
c.1160G>C (p.Gly387Ala)
dbSNP
1g.7663719G=CA1152023711CAMTA1c.1172G= (p.Gly391=)
c.*1023G= (n.*1023G=)
c.1082G= (p.Gly361=)
c.1100G= (p.Gly367=)
c.*941G= (n.*941G=)
c.1160G= (p.Gly387=)
1g.7663719G>TCA338125748CAMTA1c.1172G>T (p.Gly391Val)
c.*1023G>T (n.*1023G>T)
c.1082G>T (p.Gly361Val)
c.1100G>T (p.Gly367Val)
c.*941G>T (n.*941G>T)
c.1160G>T (p.Gly387Val)
1g.7663720G>ACA416026591CAMTA1c.1173G>A (p.Gly391=)
c.*1024G>A (n.*1024G>A)
c.1083G>A (p.Gly361=)
c.1101G>A (p.Gly367=)
c.*942G>A (n.*942G>A)
c.1161G>A (p.Gly387=)
dbSNP gnomAD v3 gnomAD v4
1g.7663720G>CCA416026593CAMTA1c.1173G>C (p.Gly391=)
c.*1024G>C (n.*1024G>C)
c.1083G>C (p.Gly361=)
c.1101G>C (p.Gly367=)
c.*942G>C (n.*942G>C)
c.1161G>C (p.Gly387=)
1g.7663720G=CA1152023712CAMTA1c.1173G= (p.Gly391=)
c.*1024G= (n.*1024G=)
c.1083G= (p.Gly361=)
c.1101G= (p.Gly367=)
c.*942G= (n.*942G=)
c.1161G= (p.Gly387=)
1g.7663720G>TCA416026592CAMTA1c.1173G>T (p.Gly391=)
c.*1024G>T (n.*1024G>T)
c.1083G>T (p.Gly361=)
c.1101G>T (p.Gly367=)
c.*942G>T (n.*942G>T)
c.1161G>T (p.Gly387=)
gnomAD v4
1g.7663721A>CCA338125759CAMTA1c.1174A>C (p.Ser392Arg)
c.*1025A>C (n.*1025A>C)
c.1084A>C (p.Ser362Arg)
c.1102A>C (p.Ser368Arg)
c.*943A>C (n.*943A>C)
c.1162A>C (p.Ser388Arg)
1g.7663721A>GCA338125762CAMTA1c.1174A>G (p.Ser392Gly)
c.*1025A>G (n.*1025A>G)
c.1084A>G (p.Ser362Gly)
c.1102A>G (p.Ser368Gly)
c.*943A>G (n.*943A>G)
c.1162A>G (p.Ser388Gly)
dbSNP
1g.7663721A>TCA338125763CAMTA1c.1174A>T (p.Ser392Cys)
c.*1025A>T (n.*1025A>T)
c.1084A>T (p.Ser362Cys)
c.1102A>T (p.Ser368Cys)
c.*943A>T (n.*943A>T)
c.1162A>T (p.Ser388Cys)
1g.7663722G>ACA338125764CAMTA1c.1175G>A (p.Ser392Asn)
c.*1026G>A (n.*1026G>A)
c.1085G>A (p.Ser362Asn)
c.1103G>A (p.Ser368Asn)
c.*944G>A (n.*944G>A)
c.1163G>A (p.Ser388Asn)
1g.7663722G>CCA338125765CAMTA1c.1175G>C (p.Ser392Thr)
c.*1026G>C (n.*1026G>C)
c.1085G>C (p.Ser362Thr)
c.1103G>C (p.Ser368Thr)
c.*944G>C (n.*944G>C)
c.1163G>C (p.Ser388Thr)
1g.7663722G>TCA338125767CAMTA1c.1175G>T (p.Ser392Ile)
c.*1026G>T (n.*1026G>T)
c.1085G>T (p.Ser362Ile)
c.1103G>T (p.Ser368Ile)
c.*944G>T (n.*944G>T)
c.1163G>T (p.Ser388Ile)
1g.7663723C>ACA338125772CAMTA1c.1176C>A (p.Ser392Arg)
c.*1027C>A (n.*1027C>A)
c.1086C>A (p.Ser362Arg)
c.1104C>A (p.Ser368Arg)
c.*945C>A (n.*945C>A)
c.1164C>A (p.Ser388Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7663723C=CA1152023713CAMTA1c.1176C= (p.Ser392=)
c.*1027C= (n.*1027C=)
c.1086C= (p.Ser362=)
c.1104C= (p.Ser368=)
c.*945C= (n.*945C=)
c.1164C= (p.Ser388=)
1g.7663723C>GCA338125781CAMTA1c.1176C>G (p.Ser392Arg)
c.*1027C>G (n.*1027C>G)
c.1086C>G (p.Ser362Arg)
c.1104C>G (p.Ser368Arg)
c.*945C>G (n.*945C>G)
c.1164C>G (p.Ser388Arg)
gnomAD v4
1g.7663723C>TCA416026594CAMTA1c.1176C>T (p.Ser392=)
c.*1027C>T (n.*1027C>T)
c.1086C>T (p.Ser362=)
c.1104C>T (p.Ser368=)
c.*945C>T (n.*945C>T)
c.1164C>T (p.Ser388=)
dbSNP
1g.7663724T>ACA338125788CAMTA1c.1177T>A (p.Leu393Met)
c.*1028T>A (n.*1028T>A)
c.1087T>A (p.Leu363Met)
c.1105T>A (p.Leu369Met)
c.*946T>A (n.*946T>A)
c.1165T>A (p.Leu389Met)
1g.7663724T>CCA416026597CAMTA1c.1177T>C (p.Leu393=)
c.*1028T>C (n.*1028T>C)
c.1087T>C (p.Leu363=)
c.1105T>C (p.Leu369=)
c.*946T>C (n.*946T>C)
c.1165T>C (p.Leu389=)
1g.7663724T>GCA338125792CAMTA1c.1177T>G (p.Leu393Val)
c.*1028T>G (n.*1028T>G)
c.1087T>G (p.Leu363Val)
c.1105T>G (p.Leu369Val)
c.*946T>G (n.*946T>G)
c.1165T>G (p.Leu389Val)
gnomAD v4
1g.7663725T>ACA338125823CAMTA1c.1178T>A (p.Leu393Ter)
c.*1029T>A (n.*1029T>A)
c.1088T>A (p.Leu363Ter)
c.1106T>A (p.Leu369Ter)
c.*947T>A (n.*947T>A)
c.1166T>A (p.Leu389Ter)
1g.7663725T>CCA566390CAMTA1c.1178T>C (p.Leu393Ser)
c.*1029T>C (n.*1029T>C)
c.1088T>C (p.Leu363Ser)
c.1106T>C (p.Leu369Ser)
c.*947T>C (n.*947T>C)
c.1166T>C (p.Leu389Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663725T>GCA338125814CAMTA1c.1178T>G (p.Leu393Trp)
c.*1029T>G (n.*1029T>G)
c.1088T>G (p.Leu363Trp)
c.1106T>G (p.Leu369Trp)
c.*947T>G (n.*947T>G)
c.1166T>G (p.Leu389Trp)
1g.7663725T=CA1152023714CAMTA1c.1178T= (p.Leu393=)
c.*1029T= (n.*1029T=)
c.1088T= (p.Leu363=)
c.1106T= (p.Leu369=)
c.*947T= (n.*947T=)
c.1166T= (p.Leu389=)
1g.7663726G>ACA17244181CAMTA1c.1179G>A (p.Leu393=)
c.*1030G>A (n.*1030G>A)
c.1089G>A (p.Leu363=)
c.1107G>A (p.Leu369=)
c.*948G>A (n.*948G>A)
c.1167G>A (p.Leu389=)
dbSNP gnomAD v2
1g.7663726G>CCA338125835CAMTA1c.1179G>C (p.Leu393Phe)
c.*1030G>C (n.*1030G>C)
c.1089G>C (p.Leu363Phe)
c.1107G>C (p.Leu369Phe)
c.*948G>C (n.*948G>C)
c.1167G>C (p.Leu389Phe)
1g.7663726G=CA1152023715CAMTA1c.1179G= (p.Leu393=)
c.*1030G= (n.*1030G=)
c.1089G= (p.Leu363=)
c.1107G= (p.Leu369=)
c.*948G= (n.*948G=)
c.1167G= (p.Leu389=)
1g.7663726G>TCA338125833CAMTA1c.1179G>T (p.Leu393Phe)
c.*1030G>T (n.*1030G>T)
c.1089G>T (p.Leu363Phe)
c.1107G>T (p.Leu369Phe)
c.*948G>T (n.*948G>T)
c.1167G>T (p.Leu389Phe)
1g.7663727T>ACA338125840CAMTA1c.1180T>A (p.Ser394Thr)
c.*1031T>A (n.*1031T>A)
c.1090T>A (p.Ser364Thr)
c.1108T>A (p.Ser370Thr)
c.*949T>A (n.*949T>A)
c.1168T>A (p.Ser390Thr)
1g.7663727T>CCA338125863CAMTA1c.1180T>C (p.Ser394Pro)
c.*1031T>C (n.*1031T>C)
c.1090T>C (p.Ser364Pro)
c.1108T>C (p.Ser370Pro)
c.*949T>C (n.*949T>C)
c.1168T>C (p.Ser390Pro)
1g.7663727T>GCA338125866CAMTA1c.1180T>G (p.Ser394Ala)
c.*1031T>G (n.*1031T>G)
c.1090T>G (p.Ser364Ala)
c.1108T>G (p.Ser370Ala)
c.*949T>G (n.*949T>G)
c.1168T>G (p.Ser390Ala)
1g.7663728C>ACA338125873CAMTA1c.1181C>A (p.Ser394Tyr)
c.*1032C>A (n.*1032C>A)
c.1091C>A (p.Ser364Tyr)
c.1109C>A (p.Ser370Tyr)
c.*950C>A (n.*950C>A)
c.1169C>A (p.Ser390Tyr)
1g.7663728C>GCA338125876CAMTA1c.1181C>G (p.Ser394Cys)
c.*1032C>G (n.*1032C>G)
c.1091C>G (p.Ser364Cys)
c.1109C>G (p.Ser370Cys)
c.*950C>G (n.*950C>G)
c.1169C>G (p.Ser390Cys)
1g.7663728C>TCA338125879CAMTA1c.1181C>T (p.Ser394Phe)
c.*1032C>T (n.*1032C>T)
c.1091C>T (p.Ser364Phe)
c.1109C>T (p.Ser370Phe)
c.*950C>T (n.*950C>T)
c.1169C>T (p.Ser390Phe)
1g.7663729C>ACA416026606CAMTA1c.1182C>A (p.Ser394=)
c.*1033C>A (n.*1033C>A)
c.1092C>A (p.Ser364=)
c.1110C>A (p.Ser370=)
c.*951C>A (n.*951C>A)
c.1170C>A (p.Ser390=)
1g.7663729C>GCA416026607CAMTA1c.1182C>G (p.Ser394=)
c.*1033C>G (n.*1033C>G)
c.1092C>G (p.Ser364=)
c.1110C>G (p.Ser370=)
c.*951C>G (n.*951C>G)
c.1170C>G (p.Ser390=)
1g.7663729C>TCA416026608CAMTA1c.1182C>T (p.Ser394=)
c.*1033C>T (n.*1033C>T)
c.1092C>T (p.Ser364=)
c.1110C>T (p.Ser370=)
c.*951C>T (n.*951C>T)
c.1170C>T (p.Ser390=)
1g.7663730C>ACA338125887CAMTA1c.1183C>A (p.Gln395Lys)
c.*1034C>A (n.*1034C>A)
c.1093C>A (p.Gln365Lys)
c.1111C>A (p.Gln371Lys)
c.*952C>A (n.*952C>A)
c.1171C>A (p.Gln391Lys)
1g.7663730C>GCA338125891CAMTA1c.1183C>G (p.Gln395Glu)
c.*1034C>G (n.*1034C>G)
c.1093C>G (p.Gln365Glu)
c.1111C>G (p.Gln371Glu)
c.*952C>G (n.*952C>G)
c.1171C>G (p.Gln391Glu)
1g.7663730C>TCA338125902CAMTA1c.1183C>T (p.Gln395Ter)
c.*1034C>T (n.*1034C>T)
c.1093C>T (p.Gln365Ter)
c.1111C>T (p.Gln371Ter)
c.*952C>T (n.*952C>T)
c.1171C>T (p.Gln391Ter)
1g.7663731A>CCA338125920CAMTA1c.1184A>C (p.Gln395Pro)
c.*1035A>C (n.*1035A>C)
c.1094A>C (p.Gln365Pro)
c.1112A>C (p.Gln371Pro)
c.*953A>C (n.*953A>C)
c.1172A>C (p.Gln391Pro)
1g.7663731A>GCA338125936CAMTA1c.1184A>G (p.Gln395Arg)
c.*1035A>G (n.*1035A>G)
c.1094A>G (p.Gln365Arg)
c.1112A>G (p.Gln371Arg)
c.*953A>G (n.*953A>G)
c.1172A>G (p.Gln391Arg)
1g.7663731A>TCA338125940CAMTA1c.1184A>T (p.Gln395Leu)
c.*1035A>T (n.*1035A>T)
c.1094A>T (p.Gln365Leu)
c.1112A>T (p.Gln371Leu)
c.*953A>T (n.*953A>T)
c.1172A>T (p.Gln391Leu)
1g.7663732G>ACA416026612CAMTA1c.1185G>A (p.Gln395=)
c.*1036G>A (n.*1036G>A)
c.1095G>A (p.Gln365=)
c.1113G>A (p.Gln371=)
c.*954G>A (n.*954G>A)
c.1173G>A (p.Gln391=)
1g.7663732G>CCA338125950CAMTA1c.1185G>C (p.Gln395His)
c.*1036G>C (n.*1036G>C)
c.1095G>C (p.Gln365His)
c.1113G>C (p.Gln371His)
c.*954G>C (n.*954G>C)
c.1173G>C (p.Gln391His)
gnomAD v4
1g.7663732G>TCA338125944CAMTA1c.1185G>T (p.Gln395His)
c.*1036G>T (n.*1036G>T)
c.1095G>T (p.Gln365His)
c.1113G>T (p.Gln371His)
c.*954G>T (n.*954G>T)
c.1173G>T (p.Gln391His)
1g.7663733A>CCA338125953CAMTA1c.1186A>C (p.Ser396Arg)
c.*1037A>C (n.*1037A>C)
c.1096A>C (p.Ser366Arg)
c.1114A>C (p.Ser372Arg)
c.*955A>C (n.*955A>C)
c.1174A>C (p.Ser392Arg)
1g.7663733A>GCA338125958CAMTA1c.1186A>G (p.Ser396Gly)
c.*1037A>G (n.*1037A>G)
c.1096A>G (p.Ser366Gly)
c.1114A>G (p.Ser372Gly)
c.*955A>G (n.*955A>G)
c.1174A>G (p.Ser392Gly)
1g.7663733A>TCA338125974CAMTA1c.1186A>T (p.Ser396Cys)
c.*1037A>T (n.*1037A>T)
c.1096A>T (p.Ser366Cys)
c.1114A>T (p.Ser372Cys)
c.*955A>T (n.*955A>T)
c.1174A>T (p.Ser392Cys)
1g.7663734G>ACA338125979CAMTA1c.1187G>A (p.Ser396Asn)
c.*1038G>A (n.*1038G>A)
c.1097G>A (p.Ser366Asn)
c.1115G>A (p.Ser372Asn)
c.*956G>A (n.*956G>A)
c.1175G>A (p.Ser392Asn)
ClinVar dbSNP
1g.7663734G>CCA338125981CAMTA1c.1187G>C (p.Ser396Thr)
c.*1038G>C (n.*1038G>C)
c.1097G>C (p.Ser366Thr)
c.1115G>C (p.Ser372Thr)
c.*956G>C (n.*956G>C)
c.1175G>C (p.Ser392Thr)
1g.7663734G=CA1152023716CAMTA1c.1187G= (p.Ser396=)
c.*1038G= (n.*1038G=)
c.1097G= (p.Ser366=)
c.1115G= (p.Ser372=)
c.*956G= (n.*956G=)
c.1175G= (p.Ser392=)
1g.7663734G>TCA338125987CAMTA1c.1187G>T (p.Ser396Ile)
c.*1038G>T (n.*1038G>T)
c.1097G>T (p.Ser366Ile)
c.1115G>T (p.Ser372Ile)
c.*956G>T (n.*956G>T)
c.1175G>T (p.Ser392Ile)
1g.7663735C>ACA338125991CAMTA1c.1188C>A (p.Ser396Arg)
c.*1039C>A (n.*1039C>A)
c.1098C>A (p.Ser366Arg)
c.1116C>A (p.Ser372Arg)
c.*957C>A (n.*957C>A)
c.1176C>A (p.Ser392Arg)
dbSNP gnomAD v2 gnomAD v4
1g.7663735C=CA1152023717CAMTA1c.1188C= (p.Ser396=)
c.*1039C= (n.*1039C=)
c.1098C= (p.Ser366=)
c.1116C= (p.Ser372=)
c.*957C= (n.*957C=)
c.1176C= (p.Ser392=)
1g.7663735C>GCA338126003CAMTA1c.1188C>G (p.Ser396Arg)
c.*1039C>G (n.*1039C>G)
c.1098C>G (p.Ser366Arg)
c.1116C>G (p.Ser372Arg)
c.*957C>G (n.*957C>G)
c.1176C>G (p.Ser392Arg)
1g.7663735C>TCA566391CAMTA1c.1188C>T (p.Ser396=)
c.*1039C>T (n.*1039C>T)
c.1098C>T (p.Ser366=)
c.1116C>T (p.Ser372=)
c.*957C>T (n.*957C>T)
c.1176C>T (p.Ser392=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663736G>ACA566392CAMTA1c.1189G>A (p.Ala397Thr)
c.*1040G>A (n.*1040G>A)
c.1099G>A (p.Ala367Thr)
c.1117G>A (p.Ala373Thr)
c.*958G>A (n.*958G>A)
c.1177G>A (p.Ala393Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663736G>CCA338126012CAMTA1c.1189G>C (p.Ala397Pro)
c.*1040G>C (n.*1040G>C)
c.1099G>C (p.Ala367Pro)
c.1117G>C (p.Ala373Pro)
c.*958G>C (n.*958G>C)
c.1177G>C (p.Ala393Pro)
dbSNP gnomAD v2 gnomAD v4
1g.7663736G=CA1141954749CAMTA1c.1189G= (p.Ala397=)
c.*1040G= (n.*1040G=)
c.1099G= (p.Ala367=)
c.1117G= (p.Ala373=)
c.*958G= (n.*958G=)
c.1177G= (p.Ala393=)
1g.7663736G>TCA338126016CAMTA1c.1189G>T (p.Ala397Ser)
c.*1040G>T (n.*1040G>T)
c.1099G>T (p.Ala367Ser)
c.1117G>T (p.Ala373Ser)
c.*958G>T (n.*958G>T)
c.1177G>T (p.Ala393Ser)
1g.7663737C>ACA338126028CAMTA1c.1190C>A (p.Ala397Asp)
c.*1041C>A (n.*1041C>A)
c.1100C>A (p.Ala367Asp)
c.1118C>A (p.Ala373Asp)
c.*959C>A (n.*959C>A)
c.1178C>A (p.Ala393Asp)
1g.7663737C>GCA338126024CAMTA1c.1190C>G (p.Ala397Gly)
c.*1041C>G (n.*1041C>G)
c.1100C>G (p.Ala367Gly)
c.1118C>G (p.Ala373Gly)
c.*959C>G (n.*959C>G)
c.1178C>G (p.Ala393Gly)
1g.7663737C>TCA338126019CAMTA1c.1190C>T (p.Ala397Val)
c.*1041C>T (n.*1041C>T)
c.1100C>T (p.Ala367Val)
c.1118C>T (p.Ala373Val)
c.*959C>T (n.*959C>T)
c.1178C>T (p.Ala393Val)
1g.7663738C>ACA416026620CAMTA1c.1191C>A (p.Ala397=)
c.*1042C>A (n.*1042C>A)
c.1101C>A (p.Ala367=)
c.1119C>A (p.Ala373=)
c.*960C>A (n.*960C>A)
c.1179C>A (p.Ala393=)
1g.7663738C>GCA416026621CAMTA1c.1191C>G (p.Ala397=)
c.*1042C>G (n.*1042C>G)
c.1101C>G (p.Ala367=)
c.1119C>G (p.Ala373=)
c.*960C>G (n.*960C>G)
c.1179C>G (p.Ala393=)
1g.7663738C>TCA416026622CAMTA1c.1191C>T (p.Ala397=)
c.*1042C>T (n.*1042C>T)
c.1101C>T (p.Ala367=)
c.1119C>T (p.Ala373=)
c.*960C>T (n.*960C>T)
c.1179C>T (p.Ala393=)
1g.7663739A>CCA338126032CAMTA1c.1192A>C (p.Thr398Pro)
c.*1043A>C (n.*1043A>C)
c.1102A>C (p.Thr368Pro)
c.1120A>C (p.Thr374Pro)
c.*961A>C (n.*961A>C)
c.1180A>C (p.Thr394Pro)
1g.7663739A>GCA338126049CAMTA1c.1192A>G (p.Thr398Ala)
c.*1043A>G (n.*1043A>G)
c.1102A>G (p.Thr368Ala)
c.1120A>G (p.Thr374Ala)
c.*961A>G (n.*961A>G)
c.1180A>G (p.Thr394Ala)
1g.7663739A>TCA338126057CAMTA1c.1192A>T (p.Thr398Ser)
c.*1043A>T (n.*1043A>T)
c.1102A>T (p.Thr368Ser)
c.1120A>T (p.Thr374Ser)
c.*961A>T (n.*961A>T)
c.1180A>T (p.Thr394Ser)
1g.7663740C>ACA338126060CAMTA1c.1193C>A (p.Thr398Lys)
c.*1044C>A (n.*1044C>A)
c.1103C>A (p.Thr368Lys)
c.1121C>A (p.Thr374Lys)
c.*962C>A (n.*962C>A)
c.1181C>A (p.Thr394Lys)
1g.7663740C=CA1152023718CAMTA1c.1193C= (p.Thr398=)
c.*1044C= (n.*1044C=)
c.1103C= (p.Thr368=)
c.1121C= (p.Thr374=)
c.*962C= (n.*962C=)
c.1181C= (p.Thr394=)
1g.7663740C>GCA338126062CAMTA1c.1193C>G (p.Thr398Arg)
c.*1044C>G (n.*1044C>G)
c.1103C>G (p.Thr368Arg)
c.1121C>G (p.Thr374Arg)
c.*962C>G (n.*962C>G)
c.1181C>G (p.Thr394Arg)
1g.7663740C>TCA566393CAMTA1c.1193C>T (p.Thr398Met)
c.*1044C>T (n.*1044C>T)
c.1103C>T (p.Thr368Met)
c.1121C>T (p.Thr374Met)
c.*962C>T (n.*962C>T)
c.1181C>T (p.Thr394Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663741G>ACA566394CAMTA1c.1194G>A (p.Thr398=)
c.*1045G>A (n.*1045G>A)
c.1104G>A (p.Thr368=)
c.1122G>A (p.Thr374=)
c.*963G>A (n.*963G>A)
c.1182G>A (p.Thr394=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663741G>CCA416026625CAMTA1c.1194G>C (p.Thr398=)
c.*1045G>C (n.*1045G>C)
c.1104G>C (p.Thr368=)
c.1122G>C (p.Thr374=)
c.*963G>C (n.*963G>C)
c.1182G>C (p.Thr394=)
1g.7663741G=CA1152023719CAMTA1c.1194G= (p.Thr398=)
c.*1045G= (n.*1045G=)
c.1104G= (p.Thr368=)
c.1122G= (p.Thr374=)
c.*963G= (n.*963G=)
c.1182G= (p.Thr394=)
1g.7663741G>TCA416026626CAMTA1c.1194G>T (p.Thr398=)
c.*1045G>T (n.*1045G>T)
c.1104G>T (p.Thr368=)
c.1122G>T (p.Thr374=)
c.*963G>T (n.*963G>T)
c.1182G>T (p.Thr394=)
1g.7663742G>ACA338126066CAMTA1c.1195G>A (p.Val399Met)
c.*1046G>A (n.*1046G>A)
c.1105G>A (p.Val369Met)
c.1123G>A (p.Val375Met)
c.*964G>A (n.*964G>A)
c.1183G>A (p.Val395Met)
1g.7663742G>CCA566395CAMTA1c.1195G>C (p.Val399Leu)
c.*1046G>C (n.*1046G>C)
c.1105G>C (p.Val369Leu)
c.1123G>C (p.Val375Leu)
c.*964G>C (n.*964G>C)
c.1183G>C (p.Val395Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663742G=CA1152023720CAMTA1c.1195G= (p.Val399=)
c.*1046G= (n.*1046G=)
c.1105G= (p.Val369=)
c.1123G= (p.Val375=)
c.*964G= (n.*964G=)
c.1183G= (p.Val395=)
1g.7663742G>TCA338126068CAMTA1c.1195G>T (p.Val399Leu)
c.*1046G>T (n.*1046G>T)
c.1105G>T (p.Val369Leu)
c.1123G>T (p.Val375Leu)
c.*964G>T (n.*964G>T)
c.1183G>T (p.Val395Leu)
gnomAD v4
1g.7663743T>ACA338126075CAMTA1c.1196T>A (p.Val399Glu)
c.*1047T>A (n.*1047T>A)
c.1106T>A (p.Val369Glu)
c.1124T>A (p.Val375Glu)
c.*965T>A (n.*965T>A)
c.1184T>A (p.Val395Glu)
1g.7663743T>CCA338126077CAMTA1c.1196T>C (p.Val399Ala)
c.*1047T>C (n.*1047T>C)
c.1106T>C (p.Val369Ala)
c.1124T>C (p.Val375Ala)
c.*965T>C (n.*965T>C)
c.1184T>C (p.Val395Ala)
1g.7663743T>GCA338126080CAMTA1c.1196T>G (p.Val399Gly)
c.*1047T>G (n.*1047T>G)
c.1106T>G (p.Val369Gly)
c.1124T>G (p.Val375Gly)
c.*965T>G (n.*965T>G)
c.1184T>G (p.Val395Gly)
dbSNP
1g.7663743T=CA1152023721CAMTA1c.1196T= (p.Val399=)
c.*1047T= (n.*1047T=)
c.1106T= (p.Val369=)
c.1124T= (p.Val375=)
c.*965T= (n.*965T=)
c.1184T= (p.Val395=)
1g.7663744G>ACA566396CAMTA1c.1197G>A (p.Val399=)
c.*1048G>A (n.*1048G>A)
c.1107G>A (p.Val369=)
c.1125G>A (p.Val375=)
c.*966G>A (n.*966G>A)
c.1185G>A (p.Val395=)
dbSNP ExAC
1g.7663744G>CCA416026628CAMTA1c.1197G>C (p.Val399=)
c.*1048G>C (n.*1048G>C)
c.1107G>C (p.Val369=)
c.1125G>C (p.Val375=)
c.*966G>C (n.*966G>C)
c.1185G>C (p.Val395=)
1g.7663744G=CA1152023722CAMTA1c.1197G= (p.Val399=)
c.*1048G= (n.*1048G=)
c.1107G= (p.Val369=)
c.1125G= (p.Val375=)
c.*966G= (n.*966G=)
c.1185G= (p.Val395=)
1g.7663744G>TCA416026629CAMTA1c.1197G>T (p.Val399=)
c.*1048G>T (n.*1048G>T)
c.1107G>T (p.Val369=)
c.1125G>T (p.Val375=)
c.*966G>T (n.*966G>T)
c.1185G>T (p.Val395=)
1g.7663745T>ACA338126097CAMTA1c.1198T>A (p.Phe400Ile)
c.*1049T>A (n.*1049T>A)
c.1108T>A (p.Phe370Ile)
c.1126T>A (p.Phe376Ile)
c.*967T>A (n.*967T>A)
c.1186T>A (p.Phe396Ile)
1g.7663745T>CCA338126109CAMTA1c.1198T>C (p.Phe400Leu)
c.*1049T>C (n.*1049T>C)
c.1108T>C (p.Phe370Leu)
c.1126T>C (p.Phe376Leu)
c.*967T>C (n.*967T>C)
c.1186T>C (p.Phe396Leu)
1g.7663745T>GCA338126100CAMTA1c.1198T>G (p.Phe400Val)
c.*1049T>G (n.*1049T>G)
c.1108T>G (p.Phe370Val)
c.1126T>G (p.Phe376Val)
c.*967T>G (n.*967T>G)
c.1186T>G (p.Phe396Val)
1g.7663746T>ACA338126113CAMTA1c.1199T>A (p.Phe400Tyr)
c.*1050T>A (n.*1050T>A)
c.1109T>A (p.Phe370Tyr)
c.1127T>A (p.Phe376Tyr)
c.*968T>A (n.*968T>A)
c.1187T>A (p.Phe396Tyr)
1g.7663746T>CCA338126115CAMTA1c.1199T>C (p.Phe400Ser)
c.*1050T>C (n.*1050T>C)
c.1109T>C (p.Phe370Ser)
c.1127T>C (p.Phe376Ser)
c.*968T>C (n.*968T>C)
c.1187T>C (p.Phe396Ser)
1g.7663746T>GCA338126117CAMTA1c.1199T>G (p.Phe400Cys)
c.*1050T>G (n.*1050T>G)
c.1109T>G (p.Phe370Cys)
c.1127T>G (p.Phe376Cys)
c.*968T>G (n.*968T>G)
c.1187T>G (p.Phe396Cys)
1g.7663747C>ACA338126120CAMTA1c.1200C>A (p.Phe400Leu)
c.*1051C>A (n.*1051C>A)
c.1110C>A (p.Phe370Leu)
c.1128C>A (p.Phe376Leu)
c.*969C>A (n.*969C>A)
c.1188C>A (p.Phe396Leu)
1g.7663747C>GCA338126127CAMTA1c.1200C>G (p.Phe400Leu)
c.*1051C>G (n.*1051C>G)
c.1110C>G (p.Phe370Leu)
c.1128C>G (p.Phe376Leu)
c.*969C>G (n.*969C>G)
c.1188C>G (p.Phe396Leu)
1g.7663747C>TCA416026631CAMTA1c.1200C>T (p.Phe400=)
c.*1051C>T (n.*1051C>T)
c.1110C>T (p.Phe370=)
c.1128C>T (p.Phe376=)
c.*969C>T (n.*969C>T)
c.1188C>T (p.Phe396=)
1g.7663748A=CA1152023723CAMTA1c.1201A= (p.Met401=)
c.*1052A= (n.*1052A=)
c.1111A= (p.Met371=)
c.1129A= (p.Met377=)
c.*970A= (n.*970A=)
c.1189A= (p.Met397=)
1g.7663748A>CCA338126134CAMTA1c.1201A>C (p.Met401Leu)
c.*1052A>C (n.*1052A>C)
c.1111A>C (p.Met371Leu)
c.1129A>C (p.Met377Leu)
c.*970A>C (n.*970A>C)
c.1189A>C (p.Met397Leu)
1g.7663748A>GCA338126136CAMTA1c.1201A>G (p.Met401Val)
c.*1052A>G (n.*1052A>G)
c.1111A>G (p.Met371Val)
c.1129A>G (p.Met377Val)
c.*970A>G (n.*970A>G)
c.1189A>G (p.Met397Val)
dbSNP gnomAD v4
1g.7663748A>TCA338126138CAMTA1c.1201A>T (p.Met401Leu)
c.*1052A>T (n.*1052A>T)
c.1111A>T (p.Met371Leu)
c.1129A>T (p.Met377Leu)
c.*970A>T (n.*970A>T)
c.1189A>T (p.Met397Leu)
1g.7663749T>ACA338126140CAMTA1c.1202T>A (p.Met401Lys)
c.*1053T>A (n.*1053T>A)
c.1112T>A (p.Met371Lys)
c.1130T>A (p.Met377Lys)
c.*971T>A (n.*971T>A)
c.1190T>A (p.Met397Lys)
1g.7663749T>CCA338126143CAMTA1c.1202T>C (p.Met401Thr)
c.*1053T>C (n.*1053T>C)
c.1112T>C (p.Met371Thr)
c.1130T>C (p.Met377Thr)
c.*971T>C (n.*971T>C)
c.1190T>C (p.Met397Thr)
gnomAD v4
1g.7663749T>GCA338126148CAMTA1c.1202T>G (p.Met401Arg)
c.*1053T>G (n.*1053T>G)
c.1112T>G (p.Met371Arg)
c.1130T>G (p.Met377Arg)
c.*971T>G (n.*971T>G)
c.1190T>G (p.Met397Arg)
1g.7663750G>ACA566397CAMTA1c.1203G>A (p.Met401Ile)
c.*1054G>A (n.*1054G>A)
c.1113G>A (p.Met371Ile)
c.1131G>A (p.Met377Ile)
c.*972G>A (n.*972G>A)
c.1191G>A (p.Met397Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663750G>CCA338126152CAMTA1c.1203G>C (p.Met401Ile)
c.*1054G>C (n.*1054G>C)
c.1113G>C (p.Met371Ile)
c.1131G>C (p.Met377Ile)
c.*972G>C (n.*972G>C)
c.1191G>C (p.Met397Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7663750G=CA1152023724CAMTA1c.1203G= (p.Met401=)
c.*1054G= (n.*1054G=)
c.1113G= (p.Met371=)
c.1131G= (p.Met377=)
c.*972G= (n.*972G=)
c.1191G= (p.Met397=)
1g.7663750G>TCA338126150CAMTA1c.1203G>T (p.Met401Ile)
c.*1054G>T (n.*1054G>T)
c.1113G>T (p.Met371Ile)
c.1131G>T (p.Met377Ile)
c.*972G>T (n.*972G>T)
c.1191G>T (p.Met397Ile)
1g.7663751T>ACA338126159CAMTA1c.1204T>A (p.Ser402Thr)
c.*1055T>A (n.*1055T>A)
c.1114T>A (p.Ser372Thr)
c.1132T>A (p.Ser378Thr)
c.*973T>A (n.*973T>A)
c.1192T>A (p.Ser398Thr)
1g.7663751T>CCA338126156CAMTA1c.1204T>C (p.Ser402Pro)
c.*1055T>C (n.*1055T>C)
c.1114T>C (p.Ser372Pro)
c.1132T>C (p.Ser378Pro)
c.*973T>C (n.*973T>C)
c.1192T>C (p.Ser398Pro)
1g.7663751T>GCA338126161CAMTA1c.1204T>G (p.Ser402Ala)
c.*1055T>G (n.*1055T>G)
c.1114T>G (p.Ser372Ala)
c.1132T>G (p.Ser378Ala)
c.*973T>G (n.*973T>G)
c.1192T>G (p.Ser398Ala)
1g.7663752C>ACA338126163CAMTA1c.1205C>A (p.Ser402Ter)
c.*1056C>A (n.*1056C>A)
c.1115C>A (p.Ser372Ter)
c.1133C>A (p.Ser378Ter)
c.*974C>A (n.*974C>A)
c.1193C>A (p.Ser398Ter)
1g.7663752C>GCA338126164CAMTA1c.1205C>G (p.Ser402Ter)
c.*1056C>G (n.*1056C>G)
c.1115C>G (p.Ser372Ter)
c.1133C>G (p.Ser378Ter)
c.*974C>G (n.*974C>G)
c.1193C>G (p.Ser398Ter)
1g.7663752C>TCA338126166CAMTA1c.1205C>T (p.Ser402Leu)
c.*1056C>T (n.*1056C>T)
c.1115C>T (p.Ser372Leu)
c.1133C>T (p.Ser378Leu)
c.*974C>T (n.*974C>T)
c.1193C>T (p.Ser398Leu)
1g.7663753A>CCA416026637CAMTA1c.1206A>C (p.Ser402=)
c.*1057A>C (n.*1057A>C)
c.1116A>C (p.Ser372=)
c.1134A>C (p.Ser378=)
c.*975A>C (n.*975A>C)
c.1194A>C (p.Ser398=)
1g.7663753A>GCA416026638CAMTA1c.1206A>G (p.Ser402=)
c.*1057A>G (n.*1057A>G)
c.1116A>G (p.Ser372=)
c.1134A>G (p.Ser378=)
c.*975A>G (n.*975A>G)
c.1194A>G (p.Ser398=)
1g.7663753A>TCA416026639CAMTA1c.1206A>T (p.Ser402=)
c.*1057A>T (n.*1057A>T)
c.1116A>T (p.Ser372=)
c.1134A>T (p.Ser378=)
c.*975A>T (n.*975A>T)
c.1194A>T (p.Ser398=)

Number of alleles fetched