Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
1g.7663754G>ACA338126167CAMTA1c.1207G>A (p.Glu403Lys)
c.*1058G>A (n.*1058G>A)
c.1117G>A (p.Glu373Lys)
c.1135G>A (p.Glu379Lys)
c.*976G>A (n.*976G>A)
c.1195G>A (p.Glu399Lys)
1g.7663754G>CCA338126168CAMTA1c.1207G>C (p.Glu403Gln)
c.*1058G>C (n.*1058G>C)
c.1117G>C (p.Glu373Gln)
c.1135G>C (p.Glu379Gln)
c.*976G>C (n.*976G>C)
c.1195G>C (p.Glu399Gln)
ClinVar dbSNP
1g.7663754G=CA1152023725CAMTA1c.1207G= (p.Glu403=)
c.*1058G= (n.*1058G=)
c.1117G= (p.Glu373=)
c.1135G= (p.Glu379=)
c.*976G= (n.*976G=)
c.1195G= (p.Glu399=)
1g.7663754G>TCA338126169CAMTA1c.1207G>T (p.Glu403Ter)
c.*1058G>T (n.*1058G>T)
c.1117G>T (p.Glu373Ter)
c.1135G>T (p.Glu379Ter)
c.*976G>T (n.*976G>T)
c.1195G>T (p.Glu399Ter)
1g.7663755A>CCA338126176CAMTA1c.1208A>C (p.Glu403Ala)
c.*1059A>C (n.*1059A>C)
c.1118A>C (p.Glu373Ala)
c.1136A>C (p.Glu379Ala)
c.*977A>C (n.*977A>C)
c.1196A>C (p.Glu399Ala)
1g.7663755A>GCA338126172CAMTA1c.1208A>G (p.Glu403Gly)
c.*1059A>G (n.*1059A>G)
c.1118A>G (p.Glu373Gly)
c.1136A>G (p.Glu379Gly)
c.*977A>G (n.*977A>G)
c.1196A>G (p.Glu399Gly)
1g.7663755A>TCA338126173CAMTA1c.1208A>T (p.Glu403Val)
c.*1059A>T (n.*1059A>T)
c.1118A>T (p.Glu373Val)
c.1136A>T (p.Glu379Val)
c.*977A>T (n.*977A>T)
c.1196A>T (p.Glu399Val)
1g.7663756G>ACA416026641CAMTA1c.1209G>A (p.Glu403=)
c.*1060G>A (n.*1060G>A)
c.1119G>A (p.Glu373=)
c.1137G>A (p.Glu379=)
c.*978G>A (n.*978G>A)
c.1197G>A (p.Glu399=)
1g.7663756G>CCA338126177CAMTA1c.1209G>C (p.Glu403Asp)
c.*1060G>C (n.*1060G>C)
c.1119G>C (p.Glu373Asp)
c.1137G>C (p.Glu379Asp)
c.*978G>C (n.*978G>C)
c.1197G>C (p.Glu399Asp)
1g.7663756G>TCA338126178CAMTA1c.1209G>T (p.Glu403Asp)
c.*1060G>T (n.*1060G>T)
c.1119G>T (p.Glu373Asp)
c.1137G>T (p.Glu379Asp)
c.*978G>T (n.*978G>T)
c.1197G>T (p.Glu399Asp)
1g.7663757G>ACA338126179CAMTA1c.1210G>A (p.Val404Ile)
c.*1061G>A (n.*1061G>A)
c.1120G>A (p.Val374Ile)
c.1138G>A (p.Val380Ile)
c.*979G>A (n.*979G>A)
c.1198G>A (p.Val400Ile)
dbSNP gnomAD v4
1g.7663757G>CCA338126180CAMTA1c.1210G>C (p.Val404Leu)
c.*1061G>C (n.*1061G>C)
c.1120G>C (p.Val374Leu)
c.1138G>C (p.Val380Leu)
c.*979G>C (n.*979G>C)
c.1198G>C (p.Val400Leu)
1g.7663757G=CA1152023726CAMTA1c.1210G= (p.Val404=)
c.*1061G= (n.*1061G=)
c.1120G= (p.Val374=)
c.1138G= (p.Val380=)
c.*979G= (n.*979G=)
c.1198G= (p.Val400=)
1g.7663757G>TCA338126181CAMTA1c.1210G>T (p.Val404Phe)
c.*1061G>T (n.*1061G>T)
c.1120G>T (p.Val374Phe)
c.1138G>T (p.Val380Phe)
c.*979G>T (n.*979G>T)
c.1198G>T (p.Val400Phe)
1g.7663758T>ACA338126183CAMTA1c.1211T>A (p.Val404Asp)
c.*1062T>A (n.*1062T>A)
c.1121T>A (p.Val374Asp)
c.1139T>A (p.Val380Asp)
c.*980T>A (n.*980T>A)
c.1199T>A (p.Val400Asp)
1g.7663758T>CCA338126186CAMTA1c.1211T>C (p.Val404Ala)
c.*1062T>C (n.*1062T>C)
c.1121T>C (p.Val374Ala)
c.1139T>C (p.Val380Ala)
c.*980T>C (n.*980T>C)
c.1199T>C (p.Val400Ala)
1g.7663758T>GCA338126184CAMTA1c.1211T>G (p.Val404Gly)
c.*1062T>G (n.*1062T>G)
c.1121T>G (p.Val374Gly)
c.1139T>G (p.Val380Gly)
c.*980T>G (n.*980T>G)
c.1199T>G (p.Val400Gly)
dbSNP
1g.7663758T=CA1152023727CAMTA1c.1211T= (p.Val404=)
c.*1062T= (n.*1062T=)
c.1121T= (p.Val374=)
c.1139T= (p.Val380=)
c.*980T= (n.*980T=)
c.1199T= (p.Val400=)
1g.7663759C>ACA416026647CAMTA1c.1212C>A (p.Val404=)
c.*1063C>A (n.*1063C>A)
c.1122C>A (p.Val374=)
c.1140C>A (p.Val380=)
c.*981C>A (n.*981C>A)
c.1200C>A (p.Val400=)
1g.7663759C>GCA416026649CAMTA1c.1212C>G (p.Val404=)
c.*1063C>G (n.*1063C>G)
c.1122C>G (p.Val374=)
c.1140C>G (p.Val380=)
c.*981C>G (n.*981C>G)
c.1200C>G (p.Val400=)
1g.7663759C>TCA416026648CAMTA1c.1212C>T (p.Val404=)
c.*1063C>T (n.*1063C>T)
c.1122C>T (p.Val374=)
c.1140C>T (p.Val380=)
c.*981C>T (n.*981C>T)
c.1200C>T (p.Val400=)
1g.7663760A>CCA338126190CAMTA1c.1213A>C (p.Thr405Pro)
c.*1064A>C (n.*1064A>C)
c.1123A>C (p.Thr375Pro)
c.1141A>C (p.Thr381Pro)
c.*982A>C (n.*982A>C)
c.1201A>C (p.Thr401Pro)
1g.7663760A>GCA338126192CAMTA1c.1213A>G (p.Thr405Ala)
c.*1064A>G (n.*1064A>G)
c.1123A>G (p.Thr375Ala)
c.1141A>G (p.Thr381Ala)
c.*982A>G (n.*982A>G)
c.1201A>G (p.Thr401Ala)
1g.7663760A>TCA338126197CAMTA1c.1213A>T (p.Thr405Ser)
c.*1064A>T (n.*1064A>T)
c.1123A>T (p.Thr375Ser)
c.1141A>T (p.Thr381Ser)
c.*982A>T (n.*982A>T)
c.1201A>T (p.Thr401Ser)
1g.7663761C>ACA338126199CAMTA1c.1214C>A (p.Thr405Asn)
c.*1065C>A (n.*1065C>A)
c.1124C>A (p.Thr375Asn)
c.1142C>A (p.Thr381Asn)
c.*983C>A (n.*983C>A)
c.1202C>A (p.Thr401Asn)
dbSNP
1g.7663761C=CA1152023728CAMTA1c.1214C= (p.Thr405=)
c.*1065C= (n.*1065C=)
c.1124C= (p.Thr375=)
c.1142C= (p.Thr381=)
c.*983C= (n.*983C=)
c.1202C= (p.Thr401=)
1g.7663761C>GCA338126200CAMTA1c.1214C>G (p.Thr405Ser)
c.*1065C>G (n.*1065C>G)
c.1124C>G (p.Thr375Ser)
c.1142C>G (p.Thr381Ser)
c.*983C>G (n.*983C>G)
c.1202C>G (p.Thr401Ser)
1g.7663761C>TCA338126203CAMTA1c.1214C>T (p.Thr405Ile)
c.*1065C>T (n.*1065C>T)
c.1124C>T (p.Thr375Ile)
c.1142C>T (p.Thr381Ile)
c.*983C>T (n.*983C>T)
c.1202C>T (p.Thr401Ile)
1g.7663762C>ACA416026650CAMTA1c.1215C>A (p.Thr405=)
c.*1066C>A (n.*1066C>A)
c.1125C>A (p.Thr375=)
c.1143C>A (p.Thr381=)
c.*984C>A (n.*984C>A)
c.1203C>A (p.Thr401=)
1g.7663762C=CA1152023729CAMTA1c.1215C= (p.Thr405=)
c.*1066C= (n.*1066C=)
c.1125C= (p.Thr375=)
c.1143C= (p.Thr381=)
c.*984C= (n.*984C=)
c.1203C= (p.Thr401=)
1g.7663762C>GCA416026652CAMTA1c.1215C>G (p.Thr405=)
c.*1066C>G (n.*1066C>G)
c.1125C>G (p.Thr375=)
c.1143C>G (p.Thr381=)
c.*984C>G (n.*984C>G)
c.1203C>G (p.Thr401=)
1g.7663762C>TCA566398CAMTA1c.1215C>T (p.Thr405=)
c.*1066C>T (n.*1066C>T)
c.1125C>T (p.Thr375=)
c.1143C>T (p.Thr381=)
c.*984C>T (n.*984C>T)
c.1203C>T (p.Thr401=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663763A>CCA338126204CAMTA1c.1216A>C (p.Asn406His)
c.*1067A>C (n.*1067A>C)
c.1126A>C (p.Asn376His)
c.1144A>C (p.Asn382His)
c.*985A>C (n.*985A>C)
c.1204A>C (p.Asn402His)
1g.7663763A>GCA338126205CAMTA1c.1216A>G (p.Asn406Asp)
c.*1067A>G (n.*1067A>G)
c.1126A>G (p.Asn376Asp)
c.1144A>G (p.Asn382Asp)
c.*985A>G (n.*985A>G)
c.1204A>G (p.Asn402Asp)
1g.7663763A>TCA338126207CAMTA1c.1216A>T (p.Asn406Tyr)
c.*1067A>T (n.*1067A>T)
c.1126A>T (p.Asn376Tyr)
c.1144A>T (p.Asn382Tyr)
c.*985A>T (n.*985A>T)
c.1204A>T (p.Asn402Tyr)
1g.7663764A=CA1152023730CAMTA1c.1217A= (p.Asn406=)
c.*1068A= (n.*1068A=)
c.1127A= (p.Asn376=)
c.1145A= (p.Asn382=)
c.*986A= (n.*986A=)
c.1205A= (p.Asn402=)
1g.7663764A>CCA338126214CAMTA1c.1217A>C (p.Asn406Thr)
c.*1068A>C (n.*1068A>C)
c.1127A>C (p.Asn376Thr)
c.1145A>C (p.Asn382Thr)
c.*986A>C (n.*986A>C)
c.1205A>C (p.Asn402Thr)
1g.7663764A>GCA566399CAMTA1c.1217A>G (p.Asn406Ser)
c.*1068A>G (n.*1068A>G)
c.1127A>G (p.Asn376Ser)
c.1145A>G (p.Asn382Ser)
c.*986A>G (n.*986A>G)
c.1205A>G (p.Asn402Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663764A>TCA338126211CAMTA1c.1217A>T (p.Asn406Ile)
c.*1068A>T (n.*1068A>T)
c.1127A>T (p.Asn376Ile)
c.1145A>T (p.Asn382Ile)
c.*986A>T (n.*986A>T)
c.1205A>T (p.Asn402Ile)
1g.7663765T>ACA566400CAMTA1c.1218T>A (p.Asn406Lys)
c.*1069T>A (n.*1069T>A)
c.1128T>A (p.Asn376Lys)
c.1146T>A (p.Asn382Lys)
c.*987T>A (n.*987T>A)
c.1206T>A (p.Asn402Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663765T>CCA566401CAMTA1c.1218T>C (p.Asn406=)
c.*1069T>C (n.*1069T>C)
c.1128T>C (p.Asn376=)
c.1146T>C (p.Asn382=)
c.*987T>C (n.*987T>C)
c.1206T>C (p.Asn402=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663765T>GCA338126222CAMTA1c.1218T>G (p.Asn406Lys)
c.*1069T>G (n.*1069T>G)
c.1128T>G (p.Asn376Lys)
c.1146T>G (p.Asn382Lys)
c.*987T>G (n.*987T>G)
c.1206T>G (p.Asn402Lys)
1g.7663765T=CA1152023731CAMTA1c.1218T= (p.Asn406=)
c.*1069T= (n.*1069T=)
c.1128T= (p.Asn376=)
c.1146T= (p.Asn382=)
c.*987T= (n.*987T=)
c.1206T= (p.Asn402=)
1g.7663766G>ACA566402CAMTA1c.1219G>A (p.Glu407Lys)
c.*1070G>A (n.*1070G>A)
c.1129G>A (p.Glu377Lys)
c.1147G>A (p.Glu383Lys)
c.*988G>A (n.*988G>A)
c.1207G>A (p.Glu403Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663766G>CCA338126227CAMTA1c.1219G>C (p.Glu407Gln)
c.*1070G>C (n.*1070G>C)
c.1129G>C (p.Glu377Gln)
c.1147G>C (p.Glu383Gln)
c.*988G>C (n.*988G>C)
c.1207G>C (p.Glu403Gln)
1g.7663766G=CA1152023732CAMTA1c.1219G= (p.Glu407=)
c.*1070G= (n.*1070G=)
c.1129G= (p.Glu377=)
c.1147G= (p.Glu383=)
c.*988G= (n.*988G=)
c.1207G= (p.Glu403=)
1g.7663766G>TCA338126232CAMTA1c.1219G>T (p.Glu407Ter)
c.*1070G>T (n.*1070G>T)
c.1129G>T (p.Glu377Ter)
c.1147G>T (p.Glu383Ter)
c.*988G>T (n.*988G>T)
c.1207G>T (p.Glu403Ter)
1g.7663767A>CCA338126242CAMTA1c.1220A>C (p.Glu407Ala)
c.*1071A>C (n.*1071A>C)
c.1130A>C (p.Glu377Ala)
c.1148A>C (p.Glu383Ala)
c.*989A>C (n.*989A>C)
c.1208A>C (p.Glu403Ala)
1g.7663767A>GCA338126234CAMTA1c.1220A>G (p.Glu407Gly)
c.*1071A>G (n.*1071A>G)
c.1130A>G (p.Glu377Gly)
c.1148A>G (p.Glu383Gly)
c.*989A>G (n.*989A>G)
c.1208A>G (p.Glu403Gly)
1g.7663767A>TCA338126236CAMTA1c.1220A>T (p.Glu407Val)
c.*1071A>T (n.*1071A>T)
c.1130A>T (p.Glu377Val)
c.1148A>T (p.Glu383Val)
c.*989A>T (n.*989A>T)
c.1208A>T (p.Glu403Val)
1g.7663768G>ACA416026658CAMTA1c.1221G>A (p.Glu407=)
c.*1072G>A (n.*1072G>A)
c.1131G>A (p.Glu377=)
c.1149G>A (p.Glu383=)
c.*990G>A (n.*990G>A)
c.1209G>A (p.Glu403=)
1g.7663768G>CCA338126245CAMTA1c.1221G>C (p.Glu407Asp)
c.*1072G>C (n.*1072G>C)
c.1131G>C (p.Glu377Asp)
c.1149G>C (p.Glu383Asp)
c.*990G>C (n.*990G>C)
c.1209G>C (p.Glu403Asp)
1g.7663768G>TCA338126246CAMTA1c.1221G>T (p.Glu407Asp)
c.*1072G>T (n.*1072G>T)
c.1131G>T (p.Glu377Asp)
c.1149G>T (p.Glu383Asp)
c.*990G>T (n.*990G>T)
c.1209G>T (p.Glu403Asp)
1g.7663769G>ACA338126248CAMTA1c.1222G>A (p.Ala408Thr)
c.*1073G>A (n.*1073G>A)
c.1132G>A (p.Ala378Thr)
c.1150G>A (p.Ala384Thr)
c.*991G>A (n.*991G>A)
c.1210G>A (p.Ala404Thr)
1g.7663769G>CCA338126249CAMTA1c.1222G>C (p.Ala408Pro)
c.*1073G>C (n.*1073G>C)
c.1132G>C (p.Ala378Pro)
c.1150G>C (p.Ala384Pro)
c.*991G>C (n.*991G>C)
c.1210G>C (p.Ala404Pro)
1g.7663769G>TCA338126260CAMTA1c.1222G>T (p.Ala408Ser)
c.*1073G>T (n.*1073G>T)
c.1132G>T (p.Ala378Ser)
c.1150G>T (p.Ala384Ser)
c.*991G>T (n.*991G>T)
c.1210G>T (p.Ala404Ser)
1g.7663769_7663770delinsGCCA1152023733CAMTA1c.1222_1223delinsGC (p.Ala408=)
c.*1073_*1074delinsGC (n.*1073_*1074delinsGC)
c.1132_1133delinsGC (p.Ala378=)
c.1150_1151delinsGC (p.Ala384=)
c.*991_*992delinsGC (n.*991_*992delinsGC)
c.1210_1211delinsGC (p.Ala404=)
1g.7663770C>ACA338126264CAMTA1c.1223C>A (p.Ala408Asp)
c.*1074C>A (n.*1074C>A)
c.1133C>A (p.Ala378Asp)
c.1151C>A (p.Ala384Asp)
c.*992C>A (n.*992C>A)
c.1211C>A (p.Ala404Asp)
1g.7663770C>GCA338126269CAMTA1c.1223C>G (p.Ala408Gly)
c.*1074C>G (n.*1074C>G)
c.1133C>G (p.Ala378Gly)
c.1151C>G (p.Ala384Gly)
c.*992C>G (n.*992C>G)
c.1211C>G (p.Ala404Gly)
gnomAD v4
1g.7663770C>TCA338126266CAMTA1c.1223C>T (p.Ala408Val)
c.*1074C>T (n.*1074C>T)
c.1133C>T (p.Ala378Val)
c.1151C>T (p.Ala384Val)
c.*992C>T (n.*992C>T)
c.1211C>T (p.Ala404Val)
1g.7663771delCA1152023734CAMTA1c.1224del (p.Val409CysfsTer27)
c.*1075del (n.*1075del)
c.1134del (p.Val379CysfsTer27)
c.1152del (p.Val385CysfsTer27)
c.*993del (n.*993del)
c.1212del (p.Val405CysfsTer27)
dbSNP
1g.7663771C>ACA416026663CAMTA1c.1224C>A (p.Ala408=)
c.*1075C>A (n.*1075C>A)
c.1134C>A (p.Ala378=)
c.1152C>A (p.Ala384=)
c.*993C>A (n.*993C>A)
c.1212C>A (p.Ala404=)
1g.7663771C=CA1143995182CAMTA1c.1224C= (p.Ala408=)
c.*1075C= (n.*1075C=)
c.1134C= (p.Ala378=)
c.1152C= (p.Ala384=)
c.*993C= (n.*993C=)
c.1212C= (p.Ala404=)
1g.7663771C>GCA416026664CAMTA1c.1224C>G (p.Ala408=)
c.*1075C>G (n.*1075C>G)
c.1134C>G (p.Ala378=)
c.1152C>G (p.Ala384=)
c.*993C>G (n.*993C>G)
c.1212C>G (p.Ala404=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7663771C>TCA566403CAMTA1c.1224C>T (p.Ala408=)
c.*1075C>T (n.*1075C>T)
c.1134C>T (p.Ala378=)
c.1152C>T (p.Ala384=)
c.*993C>T (n.*993C>T)
c.1212C>T (p.Ala404=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663772G>ACA566404CAMTA1c.1225G>A (p.Val409Met)
c.*1076G>A (n.*1076G>A)
c.1135G>A (p.Val379Met)
c.1153G>A (p.Val385Met)
c.*994G>A (n.*994G>A)
c.1213G>A (p.Val405Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663772G>CCA338126276CAMTA1c.1225G>C (p.Val409Leu)
c.*1076G>C (n.*1076G>C)
c.1135G>C (p.Val379Leu)
c.1153G>C (p.Val385Leu)
c.*994G>C (n.*994G>C)
c.1213G>C (p.Val405Leu)
1g.7663772G=CA1152023735CAMTA1c.1225G= (p.Val409=)
c.*1076G= (n.*1076G=)
c.1135G= (p.Val379=)
c.1153G= (p.Val385=)
c.*994G= (n.*994G=)
c.1213G= (p.Val405=)
1g.7663772G>TCA338126278CAMTA1c.1225G>T (p.Val409Leu)
c.*1076G>T (n.*1076G>T)
c.1135G>T (p.Val379Leu)
c.1153G>T (p.Val385Leu)
c.*994G>T (n.*994G>T)
c.1213G>T (p.Val405Leu)
dbSNP
1g.7663773T>ACA338126279CAMTA1c.1226T>A (p.Val409Glu)
c.*1077T>A (n.*1077T>A)
c.1136T>A (p.Val379Glu)
c.1154T>A (p.Val385Glu)
c.*995T>A (n.*995T>A)
c.1214T>A (p.Val405Glu)
1g.7663773T>CCA338126280CAMTA1c.1226T>C (p.Val409Ala)
c.*1077T>C (n.*1077T>C)
c.1136T>C (p.Val379Ala)
c.1154T>C (p.Val385Ala)
c.*995T>C (n.*995T>C)
c.1214T>C (p.Val405Ala)
gnomAD v4
1g.7663773T>GCA338126281CAMTA1c.1226T>G (p.Val409Gly)
c.*1077T>G (n.*1077T>G)
c.1136T>G (p.Val379Gly)
c.1154T>G (p.Val385Gly)
c.*995T>G (n.*995T>G)
c.1214T>G (p.Val405Gly)
1g.7663774G>ACA416026667CAMTA1c.1227G>A (p.Val409=)
c.*1078G>A (n.*1078G>A)
c.1137G>A (p.Val379=)
c.1155G>A (p.Val385=)
c.*996G>A (n.*996G>A)
c.1215G>A (p.Val405=)
dbSNP gnomAD v4
1g.7663774G>CCA416026668CAMTA1c.1227G>C (p.Val409=)
c.*1078G>C (n.*1078G>C)
c.1137G>C (p.Val379=)
c.1155G>C (p.Val385=)
c.*996G>C (n.*996G>C)
c.1215G>C (p.Val405=)
1g.7663774G=CA1152023736CAMTA1c.1227G= (p.Val409=)
c.*1078G= (n.*1078G=)
c.1137G= (p.Val379=)
c.1155G= (p.Val385=)
c.*996G= (n.*996G=)
c.1215G= (p.Val405=)
1g.7663774G>TCA416026669CAMTA1c.1227G>T (p.Val409=)
c.*1078G>T (n.*1078G>T)
c.1137G>T (p.Val379=)
c.1155G>T (p.Val385=)
c.*996G>T (n.*996G>T)
c.1215G>T (p.Val405=)
1g.7663775T>ACA338126282CAMTA1c.1228T>A (p.Tyr410Asn)
c.*1079T>A (n.*1079T>A)
c.1138T>A (p.Tyr380Asn)
c.1156T>A (p.Tyr386Asn)
c.*997T>A (n.*997T>A)
c.1216T>A (p.Tyr406Asn)
1g.7663775T>CCA566405CAMTA1c.1228T>C (p.Tyr410His)
c.*1079T>C (n.*1079T>C)
c.1138T>C (p.Tyr380His)
c.1156T>C (p.Tyr386His)
c.*997T>C (n.*997T>C)
c.1216T>C (p.Tyr406His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663775T>GCA338126285CAMTA1c.1228T>G (p.Tyr410Asp)
c.*1079T>G (n.*1079T>G)
c.1138T>G (p.Tyr380Asp)
c.1156T>G (p.Tyr386Asp)
c.*997T>G (n.*997T>G)
c.1216T>G (p.Tyr406Asp)
1g.7663775T=CA1152023737CAMTA1c.1228T= (p.Tyr410=)
c.*1079T= (n.*1079T=)
c.1138T= (p.Tyr380=)
c.1156T= (p.Tyr386=)
c.*997T= (n.*997T=)
c.1216T= (p.Tyr406=)
1g.7663776A>CCA338126290CAMTA1c.1229A>C (p.Tyr410Ser)
c.*1080A>C (n.*1080A>C)
c.1139A>C (p.Tyr380Ser)
c.1157A>C (p.Tyr386Ser)
c.*998A>C (n.*998A>C)
c.1217A>C (p.Tyr406Ser)
1g.7663776A>GCA338126289CAMTA1c.1229A>G (p.Tyr410Cys)
c.*1080A>G (n.*1080A>G)
c.1139A>G (p.Tyr380Cys)
c.1157A>G (p.Tyr386Cys)
c.*998A>G (n.*998A>G)
c.1217A>G (p.Tyr406Cys)
1g.7663776A>TCA338126287CAMTA1c.1229A>T (p.Tyr410Phe)
c.*1080A>T (n.*1080A>T)
c.1139A>T (p.Tyr380Phe)
c.1157A>T (p.Tyr386Phe)
c.*998A>T (n.*998A>T)
c.1217A>T (p.Tyr406Phe)
1g.7663777C>ACA338126293CAMTA1c.1230C>A (p.Tyr410Ter)
c.*1081C>A (n.*1081C>A)
c.1140C>A (p.Tyr380Ter)
c.1158C>A (p.Tyr386Ter)
c.*999C>A (n.*999C>A)
c.1218C>A (p.Tyr406Ter)
1g.7663777C=CA1145513129CAMTA1c.1230C= (p.Tyr410=)
c.*1081C= (n.*1081C=)
c.1140C= (p.Tyr380=)
c.1158C= (p.Tyr386=)
c.*999C= (n.*999C=)
c.1218C= (p.Tyr406=)
1g.7663777C>GCA338126296CAMTA1c.1230C>G (p.Tyr410Ter)
c.*1081C>G (n.*1081C>G)
c.1140C>G (p.Tyr380Ter)
c.1158C>G (p.Tyr386Ter)
c.*999C>G (n.*999C>G)
c.1218C>G (p.Tyr406Ter)
1g.7663777C>TCA566406CAMTA1c.1230C>T (p.Tyr410=)
c.*1081C>T (n.*1081C>T)
c.1140C>T (p.Tyr380=)
c.1158C>T (p.Tyr386=)
c.*999C>T (n.*999C>T)
c.1218C>T (p.Tyr406=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663778A>CCA338126298CAMTA1c.1231A>C (p.Thr411Pro)
c.*1082A>C (n.*1082A>C)
c.1141A>C (p.Thr381Pro)
c.1159A>C (p.Thr387Pro)
c.*1000A>C (n.*1000A>C)
c.1219A>C (p.Thr407Pro)
1g.7663778A>GCA338126300CAMTA1c.1231A>G (p.Thr411Ala)
c.*1082A>G (n.*1082A>G)
c.1141A>G (p.Thr381Ala)
c.1159A>G (p.Thr387Ala)
c.*1000A>G (n.*1000A>G)
c.1219A>G (p.Thr407Ala)
1g.7663778A>TCA338126303CAMTA1c.1231A>T (p.Thr411Ser)
c.*1082A>T (n.*1082A>T)
c.1141A>T (p.Thr381Ser)
c.1159A>T (p.Thr387Ser)
c.*1000A>T (n.*1000A>T)
c.1219A>T (p.Thr407Ser)
1g.7663779C>ACA338126304CAMTA1c.1232C>A (p.Thr411Asn)
c.*1083C>A (n.*1083C>A)
c.1142C>A (p.Thr381Asn)
c.1160C>A (p.Thr387Asn)
c.*1001C>A (n.*1001C>A)
c.1220C>A (p.Thr407Asn)
1g.7663779C>GCA338126306CAMTA1c.1232C>G (p.Thr411Ser)
c.*1083C>G (n.*1083C>G)
c.1142C>G (p.Thr381Ser)
c.1160C>G (p.Thr387Ser)
c.*1001C>G (n.*1001C>G)
c.1220C>G (p.Thr407Ser)
1g.7663779C>TCA338126309CAMTA1c.1232C>T (p.Thr411Ile)
c.*1083C>T (n.*1083C>T)
c.1142C>T (p.Thr381Ile)
c.1160C>T (p.Thr387Ile)
c.*1001C>T (n.*1001C>T)
c.1220C>T (p.Thr407Ile)
1g.7663780C>ACA416026677CAMTA1c.1233C>A (p.Thr411=)
c.*1084C>A (n.*1084C>A)
c.1143C>A (p.Thr381=)
c.1161C>A (p.Thr387=)
c.*1002C>A (n.*1002C>A)
c.1221C>A (p.Thr407=)
1g.7663780C>GCA416026678CAMTA1c.1233C>G (p.Thr411=)
c.*1084C>G (n.*1084C>G)
c.1143C>G (p.Thr381=)
c.1161C>G (p.Thr387=)
c.*1002C>G (n.*1002C>G)
c.1221C>G (p.Thr407=)
1g.7663780C>TCA416026680CAMTA1c.1233C>T (p.Thr411=)
c.*1084C>T (n.*1084C>T)
c.1143C>T (p.Thr381=)
c.1161C>T (p.Thr387=)
c.*1002C>T (n.*1002C>T)
c.1221C>T (p.Thr407=)
1g.7663781A>CCA338126311CAMTA1c.1234A>C (p.Met412Leu)
c.*1085A>C (n.*1085A>C)
c.1144A>C (p.Met382Leu)
c.1162A>C (p.Met388Leu)
c.*1003A>C (n.*1003A>C)
c.1222A>C (p.Met408Leu)
1g.7663781A>GCA338126313CAMTA1c.1234A>G (p.Met412Val)
c.*1085A>G (n.*1085A>G)
c.1144A>G (p.Met382Val)
c.1162A>G (p.Met388Val)
c.*1003A>G (n.*1003A>G)
c.1222A>G (p.Met408Val)
gnomAD v4
1g.7663781A>TCA338126314CAMTA1c.1234A>T (p.Met412Leu)
c.*1085A>T (n.*1085A>T)
c.1144A>T (p.Met382Leu)
c.1162A>T (p.Met388Leu)
c.*1003A>T (n.*1003A>T)
c.1222A>T (p.Met408Leu)
1g.7663782T>ACA566407CAMTA1c.1235T>A (p.Met412Lys)
c.*1086T>A (n.*1086T>A)
c.1145T>A (p.Met382Lys)
c.1163T>A (p.Met388Lys)
c.*1004T>A (n.*1004T>A)
c.1223T>A (p.Met408Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663782T>CCA338126325CAMTA1c.1235T>C (p.Met412Thr)
c.*1086T>C (n.*1086T>C)
c.1145T>C (p.Met382Thr)
c.1163T>C (p.Met388Thr)
c.*1004T>C (n.*1004T>C)
c.1223T>C (p.Met408Thr)
gnomAD v4
1g.7663782T>GCA338126326CAMTA1c.1235T>G (p.Met412Arg)
c.*1086T>G (n.*1086T>G)
c.1145T>G (p.Met382Arg)
c.1163T>G (p.Met388Arg)
c.*1004T>G (n.*1004T>G)
c.1223T>G (p.Met408Arg)
1g.7663782T=CA1152023738CAMTA1c.1235T= (p.Met412=)
c.*1086T= (n.*1086T=)
c.1145T= (p.Met382=)
c.1163T= (p.Met388=)
c.*1004T= (n.*1004T=)
c.1223T= (p.Met408=)
1g.7663783G>ACA338126333CAMTA1c.1236G>A (p.Met412Ile)
c.*1087G>A (n.*1087G>A)
c.1146G>A (p.Met382Ile)
c.1164G>A (p.Met388Ile)
c.*1005G>A (n.*1005G>A)
c.1224G>A (p.Met408Ile)
1g.7663783G>CCA338126329CAMTA1c.1236G>C (p.Met412Ile)
c.*1087G>C (n.*1087G>C)
c.1146G>C (p.Met382Ile)
c.1164G>C (p.Met388Ile)
c.*1005G>C (n.*1005G>C)
c.1224G>C (p.Met408Ile)
1g.7663783G>TCA338126332CAMTA1c.1236G>T (p.Met412Ile)
c.*1087G>T (n.*1087G>T)
c.1146G>T (p.Met382Ile)
c.1164G>T (p.Met388Ile)
c.*1005G>T (n.*1005G>T)
c.1224G>T (p.Met408Ile)
1g.7663784T>ACA338126335CAMTA1c.1237T>A (p.Ser413Thr)
c.*1088T>A (n.*1088T>A)
c.1147T>A (p.Ser383Thr)
c.1165T>A (p.Ser389Thr)
c.*1006T>A (n.*1006T>A)
c.1225T>A (p.Ser409Thr)
1g.7663784T>CCA338126338CAMTA1c.1237T>C (p.Ser413Pro)
c.*1088T>C (n.*1088T>C)
c.1147T>C (p.Ser383Pro)
c.1165T>C (p.Ser389Pro)
c.*1006T>C (n.*1006T>C)
c.1225T>C (p.Ser409Pro)
dbSNP
1g.7663784T>GCA338126340CAMTA1c.1237T>G (p.Ser413Ala)
c.*1088T>G (n.*1088T>G)
c.1147T>G (p.Ser383Ala)
c.1165T>G (p.Ser389Ala)
c.*1006T>G (n.*1006T>G)
c.1225T>G (p.Ser409Ala)
1g.7663784T=CA1152023739CAMTA1c.1237T= (p.Ser413=)
c.*1088T= (n.*1088T=)
c.1147T= (p.Ser383=)
c.1165T= (p.Ser389=)
c.*1006T= (n.*1006T=)
c.1225T= (p.Ser409=)
1g.7663785C>ACA338126360CAMTA1c.1238C>A (p.Ser413Tyr)
c.*1089C>A (n.*1089C>A)
c.1148C>A (p.Ser383Tyr)
c.1166C>A (p.Ser389Tyr)
c.*1007C>A (n.*1007C>A)
c.1226C>A (p.Ser409Tyr)
1g.7663785C=CA1152023740CAMTA1c.1238C= (p.Ser413=)
c.*1089C= (n.*1089C=)
c.1148C= (p.Ser383=)
c.1166C= (p.Ser389=)
c.*1007C= (n.*1007C=)
c.1226C= (p.Ser409=)
1g.7663785C>GCA338126366CAMTA1c.1238C>G (p.Ser413Cys)
c.*1089C>G (n.*1089C>G)
c.1148C>G (p.Ser383Cys)
c.1166C>G (p.Ser389Cys)
c.*1007C>G (n.*1007C>G)
c.1226C>G (p.Ser409Cys)
gnomAD v4
1g.7663785C>TCA338126368CAMTA1c.1238C>T (p.Ser413Phe)
c.*1089C>T (n.*1089C>T)
c.1148C>T (p.Ser383Phe)
c.1166C>T (p.Ser389Phe)
c.*1007C>T (n.*1007C>T)
c.1226C>T (p.Ser409Phe)
dbSNP gnomAD v2 gnomAD v4
1g.7663786C>ACA416026688CAMTA1c.1239C>A (p.Ser413=)
c.*1090C>A (n.*1090C>A)
c.1149C>A (p.Ser383=)
c.1167C>A (p.Ser389=)
c.*1008C>A (n.*1008C>A)
c.1227C>A (p.Ser409=)
dbSNP gnomAD v3 gnomAD v4
1g.7663786C=CA1152023741CAMTA1c.1239C= (p.Ser413=)
c.*1090C= (n.*1090C=)
c.1149C= (p.Ser383=)
c.1167C= (p.Ser389=)
c.*1008C= (n.*1008C=)
c.1227C= (p.Ser409=)
1g.7663786C>GCA416026690CAMTA1c.1239C>G (p.Ser413=)
c.*1090C>G (n.*1090C>G)
c.1149C>G (p.Ser383=)
c.1167C>G (p.Ser389=)
c.*1008C>G (n.*1008C>G)
c.1227C>G (p.Ser409=)
1g.7663786C>TCA416026691CAMTA1c.1239C>T (p.Ser413=)
c.*1090C>T (n.*1090C>T)
c.1149C>T (p.Ser383=)
c.1167C>T (p.Ser389=)
c.*1008C>T (n.*1008C>T)
c.1227C>T (p.Ser409=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.7663787C>ACA338126375CAMTA1c.1240C>A (p.Pro414Thr)
c.*1091C>A (n.*1091C>A)
c.1150C>A (p.Pro384Thr)
c.1168C>A (p.Pro390Thr)
c.*1009C>A (n.*1009C>A)
c.1228C>A (p.Pro410Thr)
1g.7663787C=CA1152023742CAMTA1c.1240C= (p.Pro414=)
c.*1091C= (n.*1091C=)
c.1150C= (p.Pro384=)
c.1168C= (p.Pro390=)
c.*1009C= (n.*1009C=)
c.1228C= (p.Pro410=)
1g.7663787C>GCA338126378CAMTA1c.1240C>G (p.Pro414Ala)
c.*1091C>G (n.*1091C>G)
c.1150C>G (p.Pro384Ala)
c.1168C>G (p.Pro390Ala)
c.*1009C>G (n.*1009C>G)
c.1228C>G (p.Pro410Ala)
1g.7663787C>TCA338126380CAMTA1c.1240C>T (p.Pro414Ser)
c.*1091C>T (n.*1091C>T)
c.1150C>T (p.Pro384Ser)
c.1168C>T (p.Pro390Ser)
c.*1009C>T (n.*1009C>T)
c.1228C>T (p.Pro410Ser)
ClinVar dbSNP gnomAD v4
1g.7663788C>ACA338126382CAMTA1c.1241C>A (p.Pro414His)
c.*1092C>A (n.*1092C>A)
c.1151C>A (p.Pro384His)
c.1169C>A (p.Pro390His)
c.*1010C>A (n.*1010C>A)
c.1229C>A (p.Pro410His)
1g.7663788C>GCA338126384CAMTA1c.1241C>G (p.Pro414Arg)
c.*1092C>G (n.*1092C>G)
c.1151C>G (p.Pro384Arg)
c.1169C>G (p.Pro390Arg)
c.*1010C>G (n.*1010C>G)
c.1229C>G (p.Pro410Arg)
1g.7663788C>TCA338126385CAMTA1c.1241C>T (p.Pro414Leu)
c.*1092C>T (n.*1092C>T)
c.1151C>T (p.Pro384Leu)
c.1169C>T (p.Pro390Leu)
c.*1010C>T (n.*1010C>T)
c.1229C>T (p.Pro410Leu)
1g.7663789C>ACA416026697CAMTA1c.1242C>A (p.Pro414=)
c.*1093C>A (n.*1093C>A)
c.1152C>A (p.Pro384=)
c.1170C>A (p.Pro390=)
c.*1011C>A (n.*1011C>A)
c.1230C>A (p.Pro410=)
1g.7663789C=CA1152023743CAMTA1c.1242C= (p.Pro414=)
c.*1093C= (n.*1093C=)
c.1152C= (p.Pro384=)
c.1170C= (p.Pro390=)
c.*1011C= (n.*1011C=)
c.1230C= (p.Pro410=)
1g.7663789C>GCA416026698CAMTA1c.1242C>G (p.Pro414=)
c.*1093C>G (n.*1093C>G)
c.1152C>G (p.Pro384=)
c.1170C>G (p.Pro390=)
c.*1011C>G (n.*1011C>G)
c.1230C>G (p.Pro410=)
1g.7663789C>TCA566408CAMTA1c.1242C>T (p.Pro414=)
c.*1093C>T (n.*1093C>T)
c.1152C>T (p.Pro384=)
c.1170C>T (p.Pro390=)
c.*1011C>T (n.*1011C>T)
c.1230C>T (p.Pro410=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663790A>CCA338126391CAMTA1c.1243A>C (p.Thr415Pro)
c.*1094A>C (n.*1094A>C)
c.1153A>C (p.Thr385Pro)
c.1171A>C (p.Thr391Pro)
c.*1012A>C (n.*1012A>C)
c.1231A>C (p.Thr411Pro)
1g.7663790A>GCA338126387CAMTA1c.1243A>G (p.Thr415Ala)
c.*1094A>G (n.*1094A>G)
c.1153A>G (p.Thr385Ala)
c.1171A>G (p.Thr391Ala)
c.*1012A>G (n.*1012A>G)
c.1231A>G (p.Thr411Ala)
gnomAD v4
1g.7663790A>TCA338126389CAMTA1c.1243A>T (p.Thr415Ser)
c.*1094A>T (n.*1094A>T)
c.1153A>T (p.Thr385Ser)
c.1171A>T (p.Thr391Ser)
c.*1012A>T (n.*1012A>T)
c.1231A>T (p.Thr411Ser)
1g.7663791C>ACA338126392CAMTA1c.1244C>A (p.Thr415Asn)
c.*1095C>A (n.*1095C>A)
c.1154C>A (p.Thr385Asn)
c.1172C>A (p.Thr391Asn)
c.*1013C>A (n.*1013C>A)
c.1232C>A (p.Thr411Asn)
1g.7663791C=CA1152023744CAMTA1c.1244C= (p.Thr415=)
c.*1095C= (n.*1095C=)
c.1154C= (p.Thr385=)
c.1172C= (p.Thr391=)
c.*1013C= (n.*1013C=)
c.1232C= (p.Thr411=)
1g.7663791C>GCA338126394CAMTA1c.1244C>G (p.Thr415Ser)
c.*1095C>G (n.*1095C>G)
c.1154C>G (p.Thr385Ser)
c.1172C>G (p.Thr391Ser)
c.*1013C>G (n.*1013C>G)
c.1232C>G (p.Thr411Ser)
1g.7663791C>TCA338126396CAMTA1c.1244C>T (p.Thr415Ile)
c.*1095C>T (n.*1095C>T)
c.1154C>T (p.Thr385Ile)
c.1172C>T (p.Thr391Ile)
c.*1013C>T (n.*1013C>T)
c.1232C>T (p.Thr411Ile)
dbSNP
1g.7663792C>ACA416026699CAMTA1c.1245C>A (p.Thr415=)
c.*1096C>A (n.*1096C>A)
c.1155C>A (p.Thr385=)
c.1173C>A (p.Thr391=)
c.*1014C>A (n.*1014C>A)
c.1233C>A (p.Thr411=)
1g.7663792C=CA1141728458CAMTA1c.1245C= (p.Thr415=)
c.*1096C= (n.*1096C=)
c.1155C= (p.Thr385=)
c.1173C= (p.Thr391=)
c.*1014C= (n.*1014C=)
c.1233C= (p.Thr411=)
1g.7663792C>GCA416026701CAMTA1c.1245C>G (p.Thr415=)
c.*1096C>G (n.*1096C>G)
c.1155C>G (p.Thr385=)
c.1173C>G (p.Thr391=)
c.*1014C>G (n.*1014C>G)
c.1233C>G (p.Thr411=)
1g.7663792C>TCA566409CAMTA1c.1245C>T (p.Thr415=)
c.*1096C>T (n.*1096C>T)
c.1155C>T (p.Thr385=)
c.1173C>T (p.Thr391=)
c.*1014C>T (n.*1014C>T)
c.1233C>T (p.Thr411=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663793G>ACA566410CAMTA1c.1246G>A (p.Ala416Thr)
c.*1097G>A (n.*1097G>A)
c.1156G>A (p.Ala386Thr)
c.1174G>A (p.Ala392Thr)
c.*1015G>A (n.*1015G>A)
c.1234G>A (p.Ala412Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663793G>CCA338126399CAMTA1c.1246G>C (p.Ala416Pro)
c.*1097G>C (n.*1097G>C)
c.1156G>C (p.Ala386Pro)
c.1174G>C (p.Ala392Pro)
c.*1015G>C (n.*1015G>C)
c.1234G>C (p.Ala412Pro)
1g.7663793G=CA1152023745CAMTA1c.1246G= (p.Ala416=)
c.*1097G= (n.*1097G=)
c.1156G= (p.Ala386=)
c.1174G= (p.Ala392=)
c.*1015G= (n.*1015G=)
c.1234G= (p.Ala412=)
1g.7663793G>TCA566411CAMTA1c.1246G>T (p.Ala416Ser)
c.*1097G>T (n.*1097G>T)
c.1156G>T (p.Ala386Ser)
c.1174G>T (p.Ala392Ser)
c.*1015G>T (n.*1015G>T)
c.1234G>T (p.Ala412Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663794C>ACA338126404CAMTA1c.1247C>A (p.Ala416Asp)
c.*1098C>A (n.*1098C>A)
c.1157C>A (p.Ala386Asp)
c.1175C>A (p.Ala392Asp)
c.*1016C>A (n.*1016C>A)
c.1235C>A (p.Ala412Asp)
1g.7663794C=CA1152023746CAMTA1c.1247C= (p.Ala416=)
c.*1098C= (n.*1098C=)
c.1157C= (p.Ala386=)
c.1175C= (p.Ala392=)
c.*1016C= (n.*1016C=)
c.1235C= (p.Ala412=)
1g.7663794C>GCA338126405CAMTA1c.1247C>G (p.Ala416Gly)
c.*1098C>G (n.*1098C>G)
c.1157C>G (p.Ala386Gly)
c.1175C>G (p.Ala392Gly)
c.*1016C>G (n.*1016C>G)
c.1235C>G (p.Ala412Gly)
1g.7663794C>TCA338126407CAMTA1c.1247C>T (p.Ala416Val)
c.*1098C>T (n.*1098C>T)
c.1157C>T (p.Ala386Val)
c.1175C>T (p.Ala392Val)
c.*1016C>T (n.*1016C>T)
c.1235C>T (p.Ala412Val)
dbSNP gnomAD v4
1g.7663795T>ACA416026712CAMTA1c.1248T>A (p.Ala416=)
c.*1099T>A (n.*1099T>A)
c.1158T>A (p.Ala386=)
c.1176T>A (p.Ala392=)
c.*1017T>A (n.*1017T>A)
c.1236T>A (p.Ala412=)
1g.7663795T>CCA416026714CAMTA1c.1248T>C (p.Ala416=)
c.*1099T>C (n.*1099T>C)
c.1158T>C (p.Ala386=)
c.1176T>C (p.Ala392=)
c.*1017T>C (n.*1017T>C)
c.1236T>C (p.Ala412=)
gnomAD v4
1g.7663795T>GCA566412CAMTA1c.1248T>G (p.Ala416=)
c.*1099T>G (n.*1099T>G)
c.1158T>G (p.Ala386=)
c.1176T>G (p.Ala392=)
c.*1017T>G (n.*1017T>G)
c.1236T>G (p.Ala412=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663795T=CA1152023747CAMTA1c.1248T= (p.Ala416=)
c.*1099T= (n.*1099T=)
c.1158T= (p.Ala386=)
c.1176T= (p.Ala392=)
c.*1017T= (n.*1017T=)
c.1236T= (p.Ala412=)
1g.7663796G>ACA338126413CAMTA1c.1249G>A (p.Gly417Ser)
c.*1100G>A (n.*1100G>A)
c.1159G>A (p.Gly387Ser)
c.1177G>A (p.Gly393Ser)
c.*1018G>A (n.*1018G>A)
c.1237G>A (p.Gly413Ser)
1g.7663796G>CCA338126409CAMTA1c.1249G>C (p.Gly417Arg)
c.*1100G>C (n.*1100G>C)
c.1159G>C (p.Gly387Arg)
c.1177G>C (p.Gly393Arg)
c.*1018G>C (n.*1018G>C)
c.1237G>C (p.Gly413Arg)
1g.7663796G>TCA338126411CAMTA1c.1249G>T (p.Gly417Cys)
c.*1100G>T (n.*1100G>T)
c.1159G>T (p.Gly387Cys)
c.1177G>T (p.Gly393Cys)
c.*1018G>T (n.*1018G>T)
c.1237G>T (p.Gly413Cys)
1g.7663797G>ACA338126415CAMTA1c.1250G>A (p.Gly417Asp)
c.*1101G>A (n.*1101G>A)
c.1160G>A (p.Gly387Asp)
c.1178G>A (p.Gly393Asp)
c.*1019G>A (n.*1019G>A)
c.1238G>A (p.Gly413Asp)
gnomAD v4
1g.7663797G>CCA338126417CAMTA1c.1250G>C (p.Gly417Ala)
c.*1101G>C (n.*1101G>C)
c.1160G>C (p.Gly387Ala)
c.1178G>C (p.Gly393Ala)
c.*1019G>C (n.*1019G>C)
c.1238G>C (p.Gly413Ala)
1g.7663797G>TCA338126418CAMTA1c.1250G>T (p.Gly417Val)
c.*1101G>T (n.*1101G>T)
c.1160G>T (p.Gly387Val)
c.1178G>T (p.Gly393Val)
c.*1019G>T (n.*1019G>T)
c.1238G>T (p.Gly413Val)
1g.7663798C>ACA416026722CAMTA1c.1251C>A (p.Gly417=)
c.*1102C>A (n.*1102C>A)
c.1161C>A (p.Gly387=)
c.1179C>A (p.Gly393=)
c.*1020C>A (n.*1020C>A)
c.1239C>A (p.Gly413=)
1g.7663798C>GCA416026723CAMTA1c.1251C>G (p.Gly417=)
c.*1102C>G (n.*1102C>G)
c.1161C>G (p.Gly387=)
c.1179C>G (p.Gly393=)
c.*1020C>G (n.*1020C>G)
c.1239C>G (p.Gly413=)
1g.7663798C>TCA416026726CAMTA1c.1251C>T (p.Gly417=)
c.*1102C>T (n.*1102C>T)
c.1161C>T (p.Gly387=)
c.1179C>T (p.Gly393=)
c.*1020C>T (n.*1020C>T)
c.1239C>T (p.Gly413=)
1g.7663799C>ACA338126422CAMTA1c.1252C>A (p.Pro418Thr)
c.*1103C>A (n.*1103C>A)
c.1162C>A (p.Pro388Thr)
c.1180C>A (p.Pro394Thr)
c.*1021C>A (n.*1021C>A)
c.1240C>A (p.Pro414Thr)
1g.7663799C>GCA338126424CAMTA1c.1252C>G (p.Pro418Ala)
c.*1103C>G (n.*1103C>G)
c.1162C>G (p.Pro388Ala)
c.1180C>G (p.Pro394Ala)
c.*1021C>G (n.*1021C>G)
c.1240C>G (p.Pro414Ala)
1g.7663799C>TCA338126426CAMTA1c.1252C>T (p.Pro418Ser)
c.*1103C>T (n.*1103C>T)
c.1162C>T (p.Pro388Ser)
c.1180C>T (p.Pro394Ser)
c.*1021C>T (n.*1021C>T)
c.1240C>T (p.Pro414Ser)
1g.7663800C>ACA338126429CAMTA1c.1253C>A (p.Pro418His)
c.*1104C>A (n.*1104C>A)
c.1163C>A (p.Pro388His)
c.1181C>A (p.Pro394His)
c.*1022C>A (n.*1022C>A)
c.1241C>A (p.Pro414His)
1g.7663800C=CA1152023748CAMTA1c.1253C= (p.Pro418=)
c.*1104C= (n.*1104C=)
c.1163C= (p.Pro388=)
c.1181C= (p.Pro394=)
c.*1022C= (n.*1022C=)
c.1241C= (p.Pro414=)
1g.7663800C>GCA338126431CAMTA1c.1253C>G (p.Pro418Arg)
c.*1104C>G (n.*1104C>G)
c.1163C>G (p.Pro388Arg)
c.1181C>G (p.Pro394Arg)
c.*1022C>G (n.*1022C>G)
c.1241C>G (p.Pro414Arg)
1g.7663800C>TCA338126434CAMTA1c.1253C>T (p.Pro418Leu)
c.*1104C>T (n.*1104C>T)
c.1163C>T (p.Pro388Leu)
c.1181C>T (p.Pro394Leu)
c.*1022C>T (n.*1022C>T)
c.1241C>T (p.Pro414Leu)
dbSNP gnomAD v2
1g.7663801C>ACA416026741CAMTA1c.1254C>A (p.Pro418=)
c.*1105C>A (n.*1105C>A)
c.1164C>A (p.Pro388=)
c.1182C>A (p.Pro394=)
c.*1023C>A (n.*1023C>A)
c.1242C>A (p.Pro414=)
1g.7663801C>GCA416026742CAMTA1c.1254C>G (p.Pro418=)
c.*1105C>G (n.*1105C>G)
c.1164C>G (p.Pro388=)
c.1182C>G (p.Pro394=)
c.*1023C>G (n.*1023C>G)
c.1242C>G (p.Pro414=)
1g.7663801C>TCA416026744CAMTA1c.1254C>T (p.Pro418=)
c.*1105C>T (n.*1105C>T)
c.1164C>T (p.Pro388=)
c.1182C>T (p.Pro394=)
c.*1023C>T (n.*1023C>T)
c.1242C>T (p.Pro414=)
gnomAD v4
1g.7663802A>CCA338126436CAMTA1c.1255A>C (p.Asn419His)
c.*1106A>C (n.*1106A>C)
c.1165A>C (p.Asn389His)
c.1183A>C (p.Asn395His)
c.*1024A>C (n.*1024A>C)
c.1243A>C (p.Asn415His)
1g.7663802A>GCA338126439CAMTA1c.1255A>G (p.Asn419Asp)
c.*1106A>G (n.*1106A>G)
c.1165A>G (p.Asn389Asp)
c.1183A>G (p.Asn395Asp)
c.*1024A>G (n.*1024A>G)
c.1243A>G (p.Asn415Asp)
1g.7663802A>TCA338126441CAMTA1c.1255A>T (p.Asn419Tyr)
c.*1106A>T (n.*1106A>T)
c.1165A>T (p.Asn389Tyr)
c.1183A>T (p.Asn395Tyr)
c.*1024A>T (n.*1024A>T)
c.1243A>T (p.Asn415Tyr)
1g.7663803A>CCA338126448CAMTA1c.1256A>C (p.Asn419Thr)
c.*1107A>C (n.*1107A>C)
c.1166A>C (p.Asn389Thr)
c.1184A>C (p.Asn395Thr)
c.*1025A>C (n.*1025A>C)
c.1244A>C (p.Asn415Thr)
1g.7663803A>GCA338126446CAMTA1c.1256A>G (p.Asn419Ser)
c.*1107A>G (n.*1107A>G)
c.1166A>G (p.Asn389Ser)
c.1184A>G (p.Asn395Ser)
c.*1025A>G (n.*1025A>G)
c.1244A>G (p.Asn415Ser)
1g.7663803A>TCA338126445CAMTA1c.1256A>T (p.Asn419Ile)
c.*1107A>T (n.*1107A>T)
c.1166A>T (p.Asn389Ile)
c.1184A>T (p.Asn395Ile)
c.*1025A>T (n.*1025A>T)
c.1244A>T (p.Asn415Ile)
1g.7663804C>ACA338126451CAMTA1c.1257C>A (p.Asn419Lys)
c.*1108C>A (n.*1108C>A)
c.1167C>A (p.Asn389Lys)
c.1185C>A (p.Asn395Lys)
c.*1026C>A (n.*1026C>A)
c.1245C>A (p.Asn415Lys)
gnomAD v4
1g.7663804C=CA1152023749CAMTA1c.1257C= (p.Asn419=)
c.*1108C= (n.*1108C=)
c.1167C= (p.Asn389=)
c.1185C= (p.Asn395=)
c.*1026C= (n.*1026C=)
c.1245C= (p.Asn415=)
1g.7663804C>GCA338126453CAMTA1c.1257C>G (p.Asn419Lys)
c.*1108C>G (n.*1108C>G)
c.1167C>G (p.Asn389Lys)
c.1185C>G (p.Asn395Lys)
c.*1026C>G (n.*1026C>G)
c.1245C>G (p.Asn415Lys)
1g.7663804C>TCA416026755CAMTA1c.1257C>T (p.Asn419=)
c.*1108C>T (n.*1108C>T)
c.1167C>T (p.Asn389=)
c.1185C>T (p.Asn395=)
c.*1026C>T (n.*1026C>T)
c.1245C>T (p.Asn415=)
dbSNP gnomAD v3 gnomAD v4
1g.7663805C>ACA338126457CAMTA1c.1258C>A (p.His420Asn)
c.*1109C>A (n.*1109C>A)
c.1168C>A (p.His390Asn)
c.1186C>A (p.His396Asn)
c.*1027C>A (n.*1027C>A)
c.1246C>A (p.His416Asn)
1g.7663805C=CA1152023750CAMTA1c.1258C= (p.His420=)
c.*1109C= (n.*1109C=)
c.1168C= (p.His390=)
c.1186C= (p.His396=)
c.*1027C= (n.*1027C=)
c.1246C= (p.His416=)
1g.7663805C>GCA338126463CAMTA1c.1258C>G (p.His420Asp)
c.*1109C>G (n.*1109C>G)
c.1168C>G (p.His390Asp)
c.1186C>G (p.His396Asp)
c.*1027C>G (n.*1027C>G)
c.1246C>G (p.His416Asp)
1g.7663805C>TCA338126460CAMTA1c.1258C>T (p.His420Tyr)
c.*1109C>T (n.*1109C>T)
c.1168C>T (p.His390Tyr)
c.1186C>T (p.His396Tyr)
c.*1027C>T (n.*1027C>T)
c.1246C>T (p.His416Tyr)
dbSNP
1g.7663806A>CCA338126465CAMTA1c.1259A>C (p.His420Pro)
c.*1110A>C (n.*1110A>C)
c.1169A>C (p.His390Pro)
c.1187A>C (p.His396Pro)
c.*1028A>C (n.*1028A>C)
c.1247A>C (p.His416Pro)
1g.7663806A>GCA338126473CAMTA1c.1259A>G (p.His420Arg)
c.*1110A>G (n.*1110A>G)
c.1169A>G (p.His390Arg)
c.1187A>G (p.His396Arg)
c.*1028A>G (n.*1028A>G)
c.1247A>G (p.His416Arg)
1g.7663806A>TCA338126466CAMTA1c.1259A>T (p.His420Leu)
c.*1110A>T (n.*1110A>T)
c.1169A>T (p.His390Leu)
c.1187A>T (p.His396Leu)
c.*1028A>T (n.*1028A>T)
c.1247A>T (p.His416Leu)
1g.7663807C>ACA338126474CAMTA1c.1260C>A (p.His420Gln)
c.*1111C>A (n.*1111C>A)
c.1170C>A (p.His390Gln)
c.1188C>A (p.His396Gln)
c.*1029C>A (n.*1029C>A)
c.1248C>A (p.His416Gln)
1g.7663807C=CA1152023751CAMTA1c.1260C= (p.His420=)
c.*1111C= (n.*1111C=)
c.1170C= (p.His390=)
c.1188C= (p.His396=)
c.*1029C= (n.*1029C=)
c.1248C= (p.His416=)
1g.7663807C>GCA17244303CAMTA1c.1260C>G (p.His420Gln)
c.*1111C>G (n.*1111C>G)
c.1170C>G (p.His390Gln)
c.1188C>G (p.His396Gln)
c.*1029C>G (n.*1029C>G)
c.1248C>G (p.His416Gln)
dbSNP gnomAD v3 gnomAD v4
1g.7663807C>TCA416026772CAMTA1c.1260C>T (p.His420=)
c.*1111C>T (n.*1111C>T)
c.1170C>T (p.His390=)
c.1188C>T (p.His396=)
c.*1029C>T (n.*1029C>T)
c.1248C>T (p.His416=)
1g.7663808C>ACA338126476CAMTA1c.1261C>A (p.His421Asn)
c.*1112C>A (n.*1112C>A)
c.1171C>A (p.His391Asn)
c.1189C>A (p.His397Asn)
c.*1030C>A (n.*1030C>A)
c.1249C>A (p.His417Asn)
1g.7663808C>GCA338126478CAMTA1c.1261C>G (p.His421Asp)
c.*1112C>G (n.*1112C>G)
c.1171C>G (p.His391Asp)
c.1189C>G (p.His397Asp)
c.*1030C>G (n.*1030C>G)
c.1249C>G (p.His417Asp)
1g.7663808C>TCA338126480CAMTA1c.1261C>T (p.His421Tyr)
c.*1112C>T (n.*1112C>T)
c.1171C>T (p.His391Tyr)
c.1189C>T (p.His397Tyr)
c.*1030C>T (n.*1030C>T)
c.1249C>T (p.His417Tyr)
1g.7663809A=CA1152023752CAMTA1c.1262A= (p.His421=)
c.*1113A= (n.*1113A=)
c.1172A= (p.His391=)
c.1190A= (p.His397=)
c.*1031A= (n.*1031A=)
c.1250A= (p.His417=)
1g.7663809A>CCA338126482CAMTA1c.1262A>C (p.His421Pro)
c.*1113A>C (n.*1113A>C)
c.1172A>C (p.His391Pro)
c.1190A>C (p.His397Pro)
c.*1031A>C (n.*1031A>C)
c.1250A>C (p.His417Pro)
dbSNP
1g.7663809A>GCA338126483CAMTA1c.1262A>G (p.His421Arg)
c.*1113A>G (n.*1113A>G)
c.1172A>G (p.His391Arg)
c.1190A>G (p.His397Arg)
c.*1031A>G (n.*1031A>G)
c.1250A>G (p.His417Arg)
1g.7663809A>TCA338126485CAMTA1c.1262A>T (p.His421Leu)
c.*1113A>T (n.*1113A>T)
c.1172A>T (p.His391Leu)
c.1190A>T (p.His397Leu)
c.*1031A>T (n.*1031A>T)
c.1250A>T (p.His417Leu)
1g.7663810C>ACA338126490CAMTA1c.1263C>A (p.His421Gln)
c.*1114C>A (n.*1114C>A)
c.1173C>A (p.His391Gln)
c.1191C>A (p.His397Gln)
c.*1032C>A (n.*1032C>A)
c.1251C>A (p.His417Gln)
gnomAD v4
1g.7663810C=CA1152023753CAMTA1c.1263C= (p.His421=)
c.*1114C= (n.*1114C=)
c.1173C= (p.His391=)
c.1191C= (p.His397=)
c.*1032C= (n.*1032C=)
c.1251C= (p.His417=)
1g.7663810C>GCA338126492CAMTA1c.1263C>G (p.His421Gln)
c.*1114C>G (n.*1114C>G)
c.1173C>G (p.His391Gln)
c.1191C>G (p.His397Gln)
c.*1032C>G (n.*1032C>G)
c.1251C>G (p.His417Gln)
1g.7663810C>TCA416026785CAMTA1c.1263C>T (p.His421=)
c.*1114C>T (n.*1114C>T)
c.1173C>T (p.His391=)
c.1191C>T (p.His397=)
c.*1032C>T (n.*1032C>T)
c.1251C>T (p.His417=)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.7663814_7663816dupCA566413CAMTA1c.1267_1269dup (p.Leu423_Ser424insLeu)
c.*1118_*1120dup (n.*1118_*1120dup)
c.1177_1179dup (p.Leu393_Ser394insLeu)
c.1195_1197dup (p.Leu399_Ser400insLeu)
c.*1036_*1038dup (n.*1036_*1038dup)
c.1255_1257dup (p.Leu419_Ser420insLeu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663811C>ACA338126496CAMTA1c.1264C>A (p.Leu422Ile)
c.*1115C>A (n.*1115C>A)
c.1174C>A (p.Leu392Ile)
c.1192C>A (p.Leu398Ile)
c.*1033C>A (n.*1033C>A)
c.1252C>A (p.Leu418Ile)
1g.7663811C=CA1152023754CAMTA1c.1264C= (p.Leu422=)
c.*1115C= (n.*1115C=)
c.1174C= (p.Leu392=)
c.1192C= (p.Leu398=)
c.*1033C= (n.*1033C=)
c.1252C= (p.Leu418=)
1g.7663811C>GCA338126499CAMTA1c.1264C>G (p.Leu422Val)
c.*1115C>G (n.*1115C>G)
c.1174C>G (p.Leu392Val)
c.1192C>G (p.Leu398Val)
c.*1033C>G (n.*1033C>G)
c.1252C>G (p.Leu418Val)
1g.7663811C>TCA566414CAMTA1c.1264C>T (p.Leu422Phe)
c.*1115C>T (n.*1115C>T)
c.1174C>T (p.Leu392Phe)
c.1192C>T (p.Leu398Phe)
c.*1033C>T (n.*1033C>T)
c.1252C>T (p.Leu418Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663812T>ACA338126501CAMTA1c.1265T>A (p.Leu422His)
c.*1116T>A (n.*1116T>A)
c.1175T>A (p.Leu392His)
c.1193T>A (p.Leu398His)
c.*1034T>A (n.*1034T>A)
c.1253T>A (p.Leu418His)
1g.7663812T>CCA338126503CAMTA1c.1265T>C (p.Leu422Pro)
c.*1116T>C (n.*1116T>C)
c.1175T>C (p.Leu392Pro)
c.1193T>C (p.Leu398Pro)
c.*1034T>C (n.*1034T>C)
c.1253T>C (p.Leu418Pro)
1g.7663812T>GCA338126506CAMTA1c.1265T>G (p.Leu422Arg)
c.*1116T>G (n.*1116T>G)
c.1175T>G (p.Leu392Arg)
c.1193T>G (p.Leu398Arg)
c.*1034T>G (n.*1034T>G)
c.1253T>G (p.Leu418Arg)
1g.7663813C>ACA416026788CAMTA1c.1266C>A (p.Leu422=)
c.*1117C>A (n.*1117C>A)
c.1176C>A (p.Leu392=)
c.1194C>A (p.Leu398=)
c.*1035C>A (n.*1035C>A)
c.1254C>A (p.Leu418=)
gnomAD v4
1g.7663813C>GCA416026789CAMTA1c.1266C>G (p.Leu422=)
c.*1117C>G (n.*1117C>G)
c.1176C>G (p.Leu392=)
c.1194C>G (p.Leu398=)
c.*1035C>G (n.*1035C>G)
c.1254C>G (p.Leu418=)
1g.7663813C>TCA416026790CAMTA1c.1266C>T (p.Leu422=)
c.*1117C>T (n.*1117C>T)
c.1176C>T (p.Leu392=)
c.1194C>T (p.Leu398=)
c.*1035C>T (n.*1035C>T)
c.1254C>T (p.Leu418=)
gnomAD v4
1g.7663814C>ACA338126509CAMTA1c.1267C>A (p.Leu423Ile)
c.*1118C>A (n.*1118C>A)
c.1177C>A (p.Leu393Ile)
c.1195C>A (p.Leu399Ile)
c.*1036C>A (n.*1036C>A)
c.1255C>A (p.Leu419Ile)
1g.7663814C=CA1152023755CAMTA1c.1267C= (p.Leu423=)
c.*1118C= (n.*1118C=)
c.1177C= (p.Leu393=)
c.1195C= (p.Leu399=)
c.*1036C= (n.*1036C=)
c.1255C= (p.Leu419=)
1g.7663814C>GCA338126512CAMTA1c.1267C>G (p.Leu423Val)
c.*1118C>G (n.*1118C>G)
c.1177C>G (p.Leu393Val)
c.1195C>G (p.Leu399Val)
c.*1036C>G (n.*1036C>G)
c.1255C>G (p.Leu419Val)
gnomAD v4
1g.7663814C>TCA338126513CAMTA1c.1267C>T (p.Leu423Phe)
c.*1118C>T (n.*1118C>T)
c.1177C>T (p.Leu393Phe)
c.1195C>T (p.Leu399Phe)
c.*1036C>T (n.*1036C>T)
c.1255C>T (p.Leu419Phe)
dbSNP gnomAD v3 gnomAD v4
1g.7663815T>ACA338126514CAMTA1c.1268T>A (p.Leu423His)
c.*1119T>A (n.*1119T>A)
c.1178T>A (p.Leu393His)
c.1196T>A (p.Leu399His)
c.*1037T>A (n.*1037T>A)
c.1256T>A (p.Leu419His)
1g.7663815T>CCA338126515CAMTA1c.1268T>C (p.Leu423Pro)
c.*1119T>C (n.*1119T>C)
c.1178T>C (p.Leu393Pro)
c.1196T>C (p.Leu399Pro)
c.*1037T>C (n.*1037T>C)
c.1256T>C (p.Leu419Pro)
1g.7663815T>GCA338126517CAMTA1c.1268T>G (p.Leu423Arg)
c.*1119T>G (n.*1119T>G)
c.1178T>G (p.Leu393Arg)
c.1196T>G (p.Leu399Arg)
c.*1037T>G (n.*1037T>G)
c.1256T>G (p.Leu419Arg)
1g.7663816C>ACA416026803CAMTA1c.1269C>A (p.Leu423=)
c.*1120C>A (n.*1120C>A)
c.1179C>A (p.Leu393=)
c.1197C>A (p.Leu399=)
c.*1038C>A (n.*1038C>A)
c.1257C>A (p.Leu419=)
1g.7663816C>GCA416026804CAMTA1c.1269C>G (p.Leu423=)
c.*1120C>G (n.*1120C>G)
c.1179C>G (p.Leu393=)
c.1197C>G (p.Leu399=)
c.*1038C>G (n.*1038C>G)
c.1257C>G (p.Leu419=)
1g.7663816C>TCA416026806CAMTA1c.1269C>T (p.Leu423=)
c.*1120C>T (n.*1120C>T)
c.1179C>T (p.Leu393=)
c.1197C>T (p.Leu399=)
c.*1038C>T (n.*1038C>T)
c.1257C>T (p.Leu419=)
1g.7663817T>ACA338126523CAMTA1c.1270T>A (p.Ser424Thr)
c.*1121T>A (n.*1121T>A)
c.1180T>A (p.Ser394Thr)
c.1198T>A (p.Ser400Thr)
c.*1039T>A (n.*1039T>A)
c.1258T>A (p.Ser420Thr)
1g.7663817T>CCA338126526CAMTA1c.1270T>C (p.Ser424Pro)
c.*1121T>C (n.*1121T>C)
c.1180T>C (p.Ser394Pro)
c.1198T>C (p.Ser400Pro)
c.*1039T>C (n.*1039T>C)
c.1258T>C (p.Ser420Pro)
1g.7663817T>GCA338126520CAMTA1c.1270T>G (p.Ser424Ala)
c.*1121T>G (n.*1121T>G)
c.1180T>G (p.Ser394Ala)
c.1198T>G (p.Ser400Ala)
c.*1039T>G (n.*1039T>G)
c.1258T>G (p.Ser420Ala)
1g.7663818C>ACA338126528CAMTA1c.1271C>A (p.Ser424Ter)
c.*1122C>A (n.*1122C>A)
c.1181C>A (p.Ser394Ter)
c.1199C>A (p.Ser400Ter)
c.*1040C>A (n.*1040C>A)
c.1259C>A (p.Ser420Ter)
1g.7663818C>GCA338126530CAMTA1c.1271C>G (p.Ser424Ter)
c.*1122C>G (n.*1122C>G)
c.1181C>G (p.Ser394Ter)
c.1199C>G (p.Ser400Ter)
c.*1040C>G (n.*1040C>G)
c.1259C>G (p.Ser420Ter)
1g.7663818C>TCA338126531CAMTA1c.1271C>T (p.Ser424Leu)
c.*1122C>T (n.*1122C>T)
c.1181C>T (p.Ser394Leu)
c.1199C>T (p.Ser400Leu)
c.*1040C>T (n.*1040C>T)
c.1259C>T (p.Ser420Leu)
gnomAD v4
1g.7663819A=CA1152023756CAMTA1c.1272A= (p.Ser424=)
c.*1123A= (n.*1123A=)
c.1182A= (p.Ser394=)
c.1200A= (p.Ser400=)
c.*1041A= (n.*1041A=)
c.1260A= (p.Ser420=)
1g.7663819A>CCA416026811CAMTA1c.1272A>C (p.Ser424=)
c.*1123A>C (n.*1123A>C)
c.1182A>C (p.Ser394=)
c.1200A>C (p.Ser400=)
c.*1041A>C (n.*1041A>C)
c.1260A>C (p.Ser420=)
dbSNP
1g.7663819A>GCA416026813CAMTA1c.1272A>G (p.Ser424=)
c.*1123A>G (n.*1123A>G)
c.1182A>G (p.Ser394=)
c.1200A>G (p.Ser400=)
c.*1041A>G (n.*1041A>G)
c.1260A>G (p.Ser420=)
dbSNP gnomAD v2 gnomAD v4
1g.7663819A>TCA416026815CAMTA1c.1272A>T (p.Ser424=)
c.*1123A>T (n.*1123A>T)
c.1182A>T (p.Ser394=)
c.1200A>T (p.Ser400=)
c.*1041A>T (n.*1041A>T)
c.1260A>T (p.Ser420=)
1g.7663820C>ACA338126533CAMTA1c.1273C>A (p.Pro425Thr)
c.*1124C>A (n.*1124C>A)
c.1183C>A (p.Pro395Thr)
c.1201C>A (p.Pro401Thr)
c.*1042C>A (n.*1042C>A)
c.1261C>A (p.Pro421Thr)
1g.7663820C>GCA338126534CAMTA1c.1273C>G (p.Pro425Ala)
c.*1124C>G (n.*1124C>G)
c.1183C>G (p.Pro395Ala)
c.1201C>G (p.Pro401Ala)
c.*1042C>G (n.*1042C>G)
c.1261C>G (p.Pro421Ala)
1g.7663820C>TCA338126535CAMTA1c.1273C>T (p.Pro425Ser)
c.*1124C>T (n.*1124C>T)
c.1183C>T (p.Pro395Ser)
c.1201C>T (p.Pro401Ser)
c.*1042C>T (n.*1042C>T)
c.1261C>T (p.Pro421Ser)
1g.7663821C>ACA338126536CAMTA1c.1274C>A (p.Pro425His)
c.*1125C>A (n.*1125C>A)
c.1184C>A (p.Pro395His)
c.1202C>A (p.Pro401His)
c.*1043C>A (n.*1043C>A)
c.1262C>A (p.Pro421His)
1g.7663821C>GCA338126539CAMTA1c.1274C>G (p.Pro425Arg)
c.*1125C>G (n.*1125C>G)
c.1184C>G (p.Pro395Arg)
c.1202C>G (p.Pro401Arg)
c.*1043C>G (n.*1043C>G)
c.1262C>G (p.Pro421Arg)
1g.7663821C>TCA338126541CAMTA1c.1274C>T (p.Pro425Leu)
c.*1125C>T (n.*1125C>T)
c.1184C>T (p.Pro395Leu)
c.1202C>T (p.Pro401Leu)
c.*1043C>T (n.*1043C>T)
c.1262C>T (p.Pro421Leu)
1g.7663822T>ACA416026825CAMTA1c.1275T>A (p.Pro425=)
c.*1126T>A (n.*1126T>A)
c.1185T>A (p.Pro395=)
c.1203T>A (p.Pro401=)
c.*1044T>A (n.*1044T>A)
c.1263T>A (p.Pro421=)
1g.7663822T>CCA416026830CAMTA1c.1275T>C (p.Pro425=)
c.*1126T>C (n.*1126T>C)
c.1185T>C (p.Pro395=)
c.1203T>C (p.Pro401=)
c.*1044T>C (n.*1044T>C)
c.1263T>C (p.Pro421=)
1g.7663822T>GCA416026827CAMTA1c.1275T>G (p.Pro425=)
c.*1126T>G (n.*1126T>G)
c.1185T>G (p.Pro395=)
c.1203T>G (p.Pro401=)
c.*1044T>G (n.*1044T>G)
c.1263T>G (p.Pro421=)
1g.7663823G>ACA338126544CAMTA1c.1276G>A (p.Asp426Asn)
c.*1127G>A (n.*1127G>A)
c.1186G>A (p.Asp396Asn)
c.1204G>A (p.Asp402Asn)
c.*1045G>A (n.*1045G>A)
c.1264G>A (p.Asp422Asn)
1g.7663823G>CCA338126546CAMTA1c.1276G>C (p.Asp426His)
c.*1127G>C (n.*1127G>C)
c.1186G>C (p.Asp396His)
c.1204G>C (p.Asp402His)
c.*1045G>C (n.*1045G>C)
c.1264G>C (p.Asp422His)
1g.7663823G>TCA338126547CAMTA1c.1276G>T (p.Asp426Tyr)
c.*1127G>T (n.*1127G>T)
c.1186G>T (p.Asp396Tyr)
c.1204G>T (p.Asp402Tyr)
c.*1045G>T (n.*1045G>T)
c.1264G>T (p.Asp422Tyr)
1g.7663824A=CA1152023757CAMTA1c.1277A= (p.Asp426=)
c.*1128A= (n.*1128A=)
c.1187A= (p.Asp396=)
c.1205A= (p.Asp402=)
c.*1046A= (n.*1046A=)
c.1265A= (p.Asp422=)
1g.7663824A>CCA338126552CAMTA1c.1277A>C (p.Asp426Ala)
c.*1128A>C (n.*1128A>C)
c.1187A>C (p.Asp396Ala)
c.1205A>C (p.Asp402Ala)
c.*1046A>C (n.*1046A>C)
c.1265A>C (p.Asp422Ala)
gnomAD v4
1g.7663824A>GCA566415CAMTA1c.1277A>G (p.Asp426Gly)
c.*1128A>G (n.*1128A>G)
c.1187A>G (p.Asp396Gly)
c.1205A>G (p.Asp402Gly)
c.*1046A>G (n.*1046A>G)
c.1265A>G (p.Asp422Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663824A>TCA338126550CAMTA1c.1277A>T (p.Asp426Val)
c.*1128A>T (n.*1128A>T)
c.1187A>T (p.Asp396Val)
c.1205A>T (p.Asp402Val)
c.*1046A>T (n.*1046A>T)
c.1265A>T (p.Asp422Val)
1g.7663825C>ACA338126553CAMTA1c.1278C>A (p.Asp426Glu)
c.*1129C>A (n.*1129C>A)
c.1188C>A (p.Asp396Glu)
c.1206C>A (p.Asp402Glu)
c.*1047C>A (n.*1047C>A)
c.1266C>A (p.Asp422Glu)
1g.7663825C=CA1143624647CAMTA1c.1278C= (p.Asp426=)
c.*1129C= (n.*1129C=)
c.1188C= (p.Asp396=)
c.1206C= (p.Asp402=)
c.*1047C= (n.*1047C=)
c.1266C= (p.Asp422=)
1g.7663825C>GCA338126555CAMTA1c.1278C>G (p.Asp426Glu)
c.*1129C>G (n.*1129C>G)
c.1188C>G (p.Asp396Glu)
c.1206C>G (p.Asp402Glu)
c.*1047C>G (n.*1047C>G)
c.1266C>G (p.Asp422Glu)
1g.7663825C>TCA566416CAMTA1c.1278C>T (p.Asp426=)
c.*1129C>T (n.*1129C>T)
c.1188C>T (p.Asp396=)
c.1206C>T (p.Asp402=)
c.*1047C>T (n.*1047C>T)
c.1266C>T (p.Asp422=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663826G>ACA566417CAMTA1c.1279G>A (p.Ala427Thr)
c.*1130G>A (n.*1130G>A)
c.1189G>A (p.Ala397Thr)
c.1207G>A (p.Ala403Thr)
c.*1048G>A (n.*1048G>A)
c.1267G>A (p.Ala423Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663826G>CCA338126563CAMTA1c.1279G>C (p.Ala427Pro)
c.*1130G>C (n.*1130G>C)
c.1189G>C (p.Ala397Pro)
c.1207G>C (p.Ala403Pro)
c.*1048G>C (n.*1048G>C)
c.1267G>C (p.Ala423Pro)
1g.7663826G=CA1143457247CAMTA1c.1279G= (p.Ala427=)
c.*1130G= (n.*1130G=)
c.1189G= (p.Ala397=)
c.1207G= (p.Ala403=)
c.*1048G= (n.*1048G=)
c.1267G= (p.Ala423=)
1g.7663826G>TCA338126566CAMTA1c.1279G>T (p.Ala427Ser)
c.*1130G>T (n.*1130G>T)
c.1189G>T (p.Ala397Ser)
c.1207G>T (p.Ala403Ser)
c.*1048G>T (n.*1048G>T)
c.1267G>T (p.Ala423Ser)
1g.7663827C>ACA338126568CAMTA1c.1280C>A (p.Ala427Asp)
c.*1131C>A (n.*1131C>A)
c.1190C>A (p.Ala397Asp)
c.1208C>A (p.Ala403Asp)
c.*1049C>A (n.*1049C>A)
c.1268C>A (p.Ala423Asp)
1g.7663827C>GCA338126571CAMTA1c.1280C>G (p.Ala427Gly)
c.*1131C>G (n.*1131C>G)
c.1190C>G (p.Ala397Gly)
c.1208C>G (p.Ala403Gly)
c.*1049C>G (n.*1049C>G)
c.1268C>G (p.Ala423Gly)
1g.7663827C>TCA338126573CAMTA1c.1280C>T (p.Ala427Val)
c.*1131C>T (n.*1131C>T)
c.1190C>T (p.Ala397Val)
c.1208C>T (p.Ala403Val)
c.*1049C>T (n.*1049C>T)
c.1268C>T (p.Ala423Val)
1g.7663828C>ACA416026840CAMTA1c.1281C>A (p.Ala427=)
c.*1132C>A (n.*1132C>A)
c.1191C>A (p.Ala397=)
c.1209C>A (p.Ala403=)
c.*1050C>A (n.*1050C>A)
c.1269C>A (p.Ala423=)
1g.7663828C=CA1152023758CAMTA1c.1281C= (p.Ala427=)
c.*1132C= (n.*1132C=)
c.1191C= (p.Ala397=)
c.1209C= (p.Ala403=)
c.*1050C= (n.*1050C=)
c.1269C= (p.Ala423=)
1g.7663828C>GCA416026843CAMTA1c.1281C>G (p.Ala427=)
c.*1132C>G (n.*1132C>G)
c.1191C>G (p.Ala397=)
c.1209C>G (p.Ala403=)
c.*1050C>G (n.*1050C>G)
c.1269C>G (p.Ala423=)
1g.7663828C>TCA416026841CAMTA1c.1281C>T (p.Ala427=)
c.*1132C>T (n.*1132C>T)
c.1191C>T (p.Ala397=)
c.1209C>T (p.Ala403=)
c.*1050C>T (n.*1050C>T)
c.1269C>T (p.Ala423=)
dbSNP gnomAD v4
1g.7663829T>ACA338126576CAMTA1c.1282T>A (p.Ser428Thr)
c.*1133T>A (n.*1133T>A)
c.1192T>A (p.Ser398Thr)
c.1210T>A (p.Ser404Thr)
c.*1051T>A (n.*1051T>A)
c.1270T>A (p.Ser424Thr)
1g.7663829T>CCA338126577CAMTA1c.1282T>C (p.Ser428Pro)
c.*1133T>C (n.*1133T>C)
c.1192T>C (p.Ser398Pro)
c.1210T>C (p.Ser404Pro)
c.*1051T>C (n.*1051T>C)
c.1270T>C (p.Ser424Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7663829T>GCA338126580CAMTA1c.1282T>G (p.Ser428Ala)
c.*1133T>G (n.*1133T>G)
c.1192T>G (p.Ser398Ala)
c.1210T>G (p.Ser404Ala)
c.*1051T>G (n.*1051T>G)
c.1270T>G (p.Ser424Ala)
1g.7663829T=CA1152023759CAMTA1c.1282T= (p.Ser428=)
c.*1133T= (n.*1133T=)
c.1192T= (p.Ser398=)
c.1210T= (p.Ser404=)
c.*1051T= (n.*1051T=)
c.1270T= (p.Ser424=)
1g.7663830C>ACA338126585CAMTA1c.1283C>A (p.Ser428Tyr)
c.*1134C>A (n.*1134C>A)
c.1193C>A (p.Ser398Tyr)
c.1211C>A (p.Ser404Tyr)
c.*1052C>A (n.*1052C>A)
c.1271C>A (p.Ser424Tyr)
1g.7663830C>GCA338126586CAMTA1c.1283C>G (p.Ser428Cys)
c.*1134C>G (n.*1134C>G)
c.1193C>G (p.Ser398Cys)
c.1211C>G (p.Ser404Cys)
c.*1052C>G (n.*1052C>G)
c.1271C>G (p.Ser424Cys)
1g.7663830C>TCA338126583CAMTA1c.1283C>T (p.Ser428Phe)
c.*1134C>T (n.*1134C>T)
c.1193C>T (p.Ser398Phe)
c.1211C>T (p.Ser404Phe)
c.*1052C>T (n.*1052C>T)
c.1271C>T (p.Ser424Phe)
1g.7663831T>ACA416026855CAMTA1c.1284T>A (p.Ser428=)
c.*1135T>A (n.*1135T>A)
c.1194T>A (p.Ser398=)
c.1212T>A (p.Ser404=)
c.*1053T>A (n.*1053T>A)
c.1272T>A (p.Ser424=)
1g.7663831T>CCA416026866CAMTA1c.1284T>C (p.Ser428=)
c.*1135T>C (n.*1135T>C)
c.1194T>C (p.Ser398=)
c.1212T>C (p.Ser404=)
c.*1053T>C (n.*1053T>C)
c.1272T>C (p.Ser424=)
1g.7663831T>GCA416026868CAMTA1c.1284T>G (p.Ser428=)
c.*1135T>G (n.*1135T>G)
c.1194T>G (p.Ser398=)
c.1212T>G (p.Ser404=)
c.*1053T>G (n.*1053T>G)
c.1272T>G (p.Ser424=)
1g.7663832C>ACA338126593CAMTA1c.1285C>A (p.Gln429Lys)
c.*1136C>A (n.*1136C>A)
c.1195C>A (p.Gln399Lys)
c.1213C>A (p.Gln405Lys)
c.*1054C>A (n.*1054C>A)
c.1273C>A (p.Gln425Lys)
1g.7663832C>GCA338126589CAMTA1c.1285C>G (p.Gln429Glu)
c.*1136C>G (n.*1136C>G)
c.1195C>G (p.Gln399Glu)
c.1213C>G (p.Gln405Glu)
c.*1054C>G (n.*1054C>G)
c.1273C>G (p.Gln425Glu)
1g.7663832C>TCA338126592CAMTA1c.1285C>T (p.Gln429Ter)
c.*1136C>T (n.*1136C>T)
c.1195C>T (p.Gln399Ter)
c.1213C>T (p.Gln405Ter)
c.*1054C>T (n.*1054C>T)
c.1273C>T (p.Gln425Ter)
1g.7663833A=CA1152023760CAMTA1c.1286A= (p.Gln429=)
c.*1137A= (n.*1137A=)
c.1196A= (p.Gln399=)
c.1214A= (p.Gln405=)
c.*1055A= (n.*1055A=)
c.1274A= (p.Gln425=)
1g.7663833A>CCA338126596CAMTA1c.1286A>C (p.Gln429Pro)
c.*1137A>C (n.*1137A>C)
c.1196A>C (p.Gln399Pro)
c.1214A>C (p.Gln405Pro)
c.*1055A>C (n.*1055A>C)
c.1274A>C (p.Gln425Pro)
gnomAD v4
1g.7663833A>GCA338126598CAMTA1c.1286A>G (p.Gln429Arg)
c.*1137A>G (n.*1137A>G)
c.1196A>G (p.Gln399Arg)
c.1214A>G (p.Gln405Arg)
c.*1055A>G (n.*1055A>G)
c.1274A>G (p.Gln425Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7663833A>TCA338126601CAMTA1c.1286A>T (p.Gln429Leu)
c.*1137A>T (n.*1137A>T)
c.1196A>T (p.Gln399Leu)
c.1214A>T (p.Gln405Leu)
c.*1055A>T (n.*1055A>T)
c.1274A>T (p.Gln425Leu)
1g.7663834G>ACA416026873CAMTA1c.1287G>A (p.Gln429=)
c.*1138G>A (n.*1138G>A)
c.1197G>A (p.Gln399=)
c.1215G>A (p.Gln405=)
c.*1056G>A (n.*1056G>A)
c.1275G>A (p.Gln425=)
1g.7663834G>CCA338126604CAMTA1c.1287G>C (p.Gln429His)
c.*1138G>C (n.*1138G>C)
c.1197G>C (p.Gln399His)
c.1215G>C (p.Gln405His)
c.*1056G>C (n.*1056G>C)
c.1275G>C (p.Gln425His)
ClinVar
1g.7663834G>TCA338126605CAMTA1c.1287G>T (p.Gln429His)
c.*1138G>T (n.*1138G>T)
c.1197G>T (p.Gln399His)
c.1215G>T (p.Gln405His)
c.*1056G>T (n.*1056G>T)
c.1275G>T (p.Gln425His)
1g.7663835G>ACA338126609CAMTA1c.1288G>A (p.Gly430Ser)
c.*1139G>A (n.*1139G>A)
c.1198G>A (p.Gly400Ser)
c.1216G>A (p.Gly406Ser)
c.*1057G>A (n.*1057G>A)
c.1276G>A (p.Gly426Ser)
1g.7663835G>CCA338126611CAMTA1c.1288G>C (p.Gly430Arg)
c.*1139G>C (n.*1139G>C)
c.1198G>C (p.Gly400Arg)
c.1216G>C (p.Gly406Arg)
c.*1057G>C (n.*1057G>C)
c.1276G>C (p.Gly426Arg)
1g.7663835G>TCA338126612CAMTA1c.1288G>T (p.Gly430Cys)
c.*1139G>T (n.*1139G>T)
c.1198G>T (p.Gly400Cys)
c.1216G>T (p.Gly406Cys)
c.*1057G>T (n.*1057G>T)
c.1276G>T (p.Gly426Cys)
gnomAD v4
1g.7663836G>ACA566418CAMTA1c.1289G>A (p.Gly430Asp)
c.*1140G>A (n.*1140G>A)
c.1199G>A (p.Gly400Asp)
c.1217G>A (p.Gly406Asp)
c.*1058G>A (n.*1058G>A)
c.1277G>A (p.Gly426Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663836G>CCA338126617CAMTA1c.1289G>C (p.Gly430Ala)
c.*1140G>C (n.*1140G>C)
c.1199G>C (p.Gly400Ala)
c.1217G>C (p.Gly406Ala)
c.*1058G>C (n.*1058G>C)
c.1277G>C (p.Gly426Ala)
1g.7663836G=CA1143857835CAMTA1c.1289G= (p.Gly430=)
c.*1140G= (n.*1140G=)
c.1199G= (p.Gly400=)
c.1217G= (p.Gly406=)
c.*1058G= (n.*1058G=)
c.1277G= (p.Gly426=)
1g.7663836G>TCA566419CAMTA1c.1289G>T (p.Gly430Val)
c.*1140G>T (n.*1140G>T)
c.1199G>T (p.Gly400Val)
c.1217G>T (p.Gly406Val)
c.*1058G>T (n.*1058G>T)
c.1277G>T (p.Gly426Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663837C>ACA416026887CAMTA1c.1290C>A (p.Gly430=)
c.*1141C>A (n.*1141C>A)
c.1200C>A (p.Gly400=)
c.1218C>A (p.Gly406=)
c.*1059C>A (n.*1059C>A)
c.1278C>A (p.Gly426=)
dbSNP
1g.7663837C=CA1152023761CAMTA1c.1290C= (p.Gly430=)
c.*1141C= (n.*1141C=)
c.1200C= (p.Gly400=)
c.1218C= (p.Gly406=)
c.*1059C= (n.*1059C=)
c.1278C= (p.Gly426=)
1g.7663837C>GCA416026893CAMTA1c.1290C>G (p.Gly430=)
c.*1141C>G (n.*1141C>G)
c.1200C>G (p.Gly400=)
c.1218C>G (p.Gly406=)
c.*1059C>G (n.*1059C>G)
c.1278C>G (p.Gly426=)
1g.7663837C>TCA416026894CAMTA1c.1290C>T (p.Gly430=)
c.*1141C>T (n.*1141C>T)
c.1200C>T (p.Gly400=)
c.1218C>T (p.Gly406=)
c.*1059C>T (n.*1059C>T)
c.1278C>T (p.Gly426=)
dbSNP
1g.7663838C>ACA338126621CAMTA1c.1291C>A (p.Leu431Ile)
c.*1142C>A (n.*1142C>A)
c.1201C>A (p.Leu401Ile)
c.1219C>A (p.Leu407Ile)
c.*1060C>A (n.*1060C>A)
c.1279C>A (p.Leu427Ile)
1g.7663838C>GCA338126626CAMTA1c.1291C>G (p.Leu431Val)
c.*1142C>G (n.*1142C>G)
c.1201C>G (p.Leu401Val)
c.1219C>G (p.Leu407Val)
c.*1060C>G (n.*1060C>G)
c.1279C>G (p.Leu427Val)
gnomAD v4
1g.7663838C>TCA338126624CAMTA1c.1291C>T (p.Leu431Phe)
c.*1142C>T (n.*1142C>T)
c.1201C>T (p.Leu401Phe)
c.1219C>T (p.Leu407Phe)
c.*1060C>T (n.*1060C>T)
c.1279C>T (p.Leu427Phe)
gnomAD v4
1g.7663838_7663841delinsCTCGCA1152023762CAMTA1c.1291_1294delinsCTCG (p.Leu431=)
c.*1142_*1145delinsCTCG (n.*1142_*1145delinsCTCG)
c.1201_1204delinsCTCG (p.Leu401=)
c.1219_1222delinsCTCG (p.Leu407=)
c.*1060_*1063delinsCTCG (n.*1060_*1063delinsCTCG)
c.1279_1282delinsCTCG (p.Leu427=)
1g.7663839T>ACA338126629CAMTA1c.1292T>A (p.Leu431His)
c.*1143T>A (n.*1143T>A)
c.1202T>A (p.Leu401His)
c.1220T>A (p.Leu407His)
c.*1061T>A (n.*1061T>A)
c.1280T>A (p.Leu427His)
1g.7663839T>CCA338126630CAMTA1c.1292T>C (p.Leu431Pro)
c.*1143T>C (n.*1143T>C)
c.1202T>C (p.Leu401Pro)
c.1220T>C (p.Leu407Pro)
c.*1061T>C (n.*1061T>C)
c.1280T>C (p.Leu427Pro)
1g.7663839T>GCA338126631CAMTA1c.1292T>G (p.Leu431Arg)
c.*1143T>G (n.*1143T>G)
c.1202T>G (p.Leu401Arg)
c.1220T>G (p.Leu407Arg)
c.*1061T>G (n.*1061T>G)
c.1280T>G (p.Leu427Arg)
ClinVar
1g.7663841_7663843delCA1139655932CAMTA1c.1294_1296del (p.Val432del)
c.*1145_*1147del (n.*1145_*1147del)
c.1204_1206del (p.Val402del)
c.1222_1224del (p.Val408del)
c.*1063_*1065del (n.*1063_*1065del)
c.1282_1284del (p.Val428del)
ClinVar dbSNP gnomAD v4
1g.7663840C>ACA416026904CAMTA1c.1293C>A (p.Leu431=)
c.*1144C>A (n.*1144C>A)
c.1203C>A (p.Leu401=)
c.1221C>A (p.Leu407=)
c.*1062C>A (n.*1062C>A)
c.1281C>A (p.Leu427=)
1g.7663840C=CA1152023763CAMTA1c.1293C= (p.Leu431=)
c.*1144C= (n.*1144C=)
c.1203C= (p.Leu401=)
c.1221C= (p.Leu407=)
c.*1062C= (n.*1062C=)
c.1281C= (p.Leu427=)
1g.7663840C>GCA416026905CAMTA1c.1293C>G (p.Leu431=)
c.*1144C>G (n.*1144C>G)
c.1203C>G (p.Leu401=)
c.1221C>G (p.Leu407=)
c.*1062C>G (n.*1062C>G)
c.1281C>G (p.Leu427=)
1g.7663840C>TCA416026906CAMTA1c.1293C>T (p.Leu431=)
c.*1144C>T (n.*1144C>T)
c.1203C>T (p.Leu401=)
c.1221C>T (p.Leu407=)
c.*1062C>T (n.*1062C>T)
c.1281C>T (p.Leu427=)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.7663841G>ACA566420CAMTA1c.1294G>A (p.Val432Ile)
c.*1145G>A (n.*1145G>A)
c.1204G>A (p.Val402Ile)
c.1222G>A (p.Val408Ile)
c.*1063G>A (n.*1063G>A)
c.1282G>A (p.Val428Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663841G>CCA338126634CAMTA1c.1294G>C (p.Val432Leu)
c.*1145G>C (n.*1145G>C)
c.1204G>C (p.Val402Leu)
c.1222G>C (p.Val408Leu)
c.*1063G>C (n.*1063G>C)
c.1282G>C (p.Val428Leu)
1g.7663841G=CA1152023764CAMTA1c.1294G= (p.Val432=)
c.*1145G= (n.*1145G=)
c.1204G= (p.Val402=)
c.1222G= (p.Val408=)
c.*1063G= (n.*1063G=)
c.1282G= (p.Val428=)
1g.7663841G>TCA338126637CAMTA1c.1294G>T (p.Val432Phe)
c.*1145G>T (n.*1145G>T)
c.1204G>T (p.Val402Phe)
c.1222G>T (p.Val408Phe)
c.*1063G>T (n.*1063G>T)
c.1282G>T (p.Val428Phe)
dbSNP gnomAD v2 gnomAD v4
1g.7663842T>ACA338126639CAMTA1c.1295T>A (p.Val432Asp)
c.*1146T>A (n.*1146T>A)
c.1205T>A (p.Val402Asp)
c.1223T>A (p.Val408Asp)
c.*1064T>A (n.*1064T>A)
c.1283T>A (p.Val428Asp)
1g.7663842T>CCA338126641CAMTA1c.1295T>C (p.Val432Ala)
c.*1146T>C (n.*1146T>C)
c.1205T>C (p.Val402Ala)
c.1223T>C (p.Val408Ala)
c.*1064T>C (n.*1064T>C)
c.1283T>C (p.Val428Ala)
gnomAD v4
1g.7663842T>GCA338126643CAMTA1c.1295T>G (p.Val432Gly)
c.*1146T>G (n.*1146T>G)
c.1205T>G (p.Val402Gly)
c.1223T>G (p.Val408Gly)
c.*1064T>G (n.*1064T>G)
c.1283T>G (p.Val428Gly)
1g.7663843C>ACA416026918CAMTA1c.1296C>A (p.Val432=)
c.*1147C>A (n.*1147C>A)
c.1206C>A (p.Val402=)
c.1224C>A (p.Val408=)
c.*1065C>A (n.*1065C>A)
c.1284C>A (p.Val428=)
dbSNP
1g.7663843C>GCA416026924CAMTA1c.1296C>G (p.Val432=)
c.*1147C>G (n.*1147C>G)
c.1206C>G (p.Val402=)
c.1224C>G (p.Val408=)
c.*1065C>G (n.*1065C>G)
c.1284C>G (p.Val428=)
1g.7663843C>TCA416026919CAMTA1c.1296C>T (p.Val432=)
c.*1147C>T (n.*1147C>T)
c.1206C>T (p.Val402=)
c.1224C>T (p.Val408=)
c.*1065C>T (n.*1065C>T)
c.1284C>T (p.Val428=)
1g.7663844C>ACA338126646CAMTA1c.1297C>A (p.Leu433Met)
c.*1148C>A (n.*1148C>A)
c.1207C>A (p.Leu403Met)
c.1225C>A (p.Leu409Met)
c.*1066C>A (n.*1066C>A)
c.1285C>A (p.Leu429Met)
1g.7663844C>GCA338126648CAMTA1c.1297C>G (p.Leu433Val)
c.*1148C>G (n.*1148C>G)
c.1207C>G (p.Leu403Val)
c.1225C>G (p.Leu409Val)
c.*1066C>G (n.*1066C>G)
c.1285C>G (p.Leu429Val)
1g.7663844C>TCA416026928CAMTA1c.1297C>T (p.Leu433=)
c.*1148C>T (n.*1148C>T)
c.1207C>T (p.Leu403=)
c.1225C>T (p.Leu409=)
c.*1066C>T (n.*1066C>T)
c.1285C>T (p.Leu429=)
1g.7663844_7663850delinsCTGGCCGCA1152023765CAMTA1c.1297_1303delinsCTGGCCG (p.Leu433=)
c.*1148_*1154delinsCTGGCCG (n.*1148_*1154delinsCTGGCCG)
c.1207_1213delinsCTGGCCG (p.Leu403=)
c.1225_1231delinsCTGGCCG (p.Leu409=)
c.*1066_*1072delinsCTGGCCG (n.*1066_*1072delinsCTGGCCG)
c.1285_1291delinsCTGGCCG (p.Leu429=)
1g.7663845T>ACA338126654CAMTA1c.1298T>A (p.Leu433Gln)
c.*1149T>A (n.*1149T>A)
c.1208T>A (p.Leu403Gln)
c.1226T>A (p.Leu409Gln)
c.*1067T>A (n.*1067T>A)
c.1286T>A (p.Leu429Gln)
1g.7663845T>CCA338126656CAMTA1c.1298T>C (p.Leu433Pro)
c.*1149T>C (n.*1149T>C)
c.1208T>C (p.Leu403Pro)
c.1226T>C (p.Leu409Pro)
c.*1067T>C (n.*1067T>C)
c.1286T>C (p.Leu429Pro)
1g.7663845T>GCA338126652CAMTA1c.1298T>G (p.Leu433Arg)
c.*1149T>G (n.*1149T>G)
c.1208T>G (p.Leu403Arg)
c.1226T>G (p.Leu409Arg)
c.*1067T>G (n.*1067T>G)
c.1286T>G (p.Leu429Arg)
1g.7663847_7663852delCA738929357CAMTA1c.1300_1305del (p.Ala434_Val435del)
c.*1151_*1156del (n.*1151_*1156del)
c.1210_1215del (p.Ala404_Val405del)
c.1228_1233del (p.Ala410_Val411del)
c.*1069_*1074del (n.*1069_*1074del)
c.1288_1293del (p.Ala430_Val431del)
dbSNP
1g.7663846G>ACA416026932CAMTA1c.1299G>A (p.Leu433=)
c.*1150G>A (n.*1150G>A)
c.1209G>A (p.Leu403=)
c.1227G>A (p.Leu409=)
c.*1068G>A (n.*1068G>A)
c.1287G>A (p.Leu429=)
dbSNP gnomAD v3 gnomAD v4
1g.7663846G>CCA416026933CAMTA1c.1299G>C (p.Leu433=)
c.*1150G>C (n.*1150G>C)
c.1209G>C (p.Leu403=)
c.1227G>C (p.Leu409=)
c.*1068G>C (n.*1068G>C)
c.1287G>C (p.Leu429=)
dbSNP
1g.7663846G=CA1152023766CAMTA1c.1299G= (p.Leu433=)
c.*1150G= (n.*1150G=)
c.1209G= (p.Leu403=)
c.1227G= (p.Leu409=)
c.*1068G= (n.*1068G=)
c.1287G= (p.Leu429=)
1g.7663846G>TCA416026937CAMTA1c.1299G>T (p.Leu433=)
c.*1150G>T (n.*1150G>T)
c.1209G>T (p.Leu403=)
c.1227G>T (p.Leu409=)
c.*1068G>T (n.*1068G>T)
c.1287G>T (p.Leu429=)
1g.7663847G>ACA338126659CAMTA1c.1300G>A (p.Ala434Thr)
c.*1151G>A (n.*1151G>A)
c.1210G>A (p.Ala404Thr)
c.1228G>A (p.Ala410Thr)
c.*1069G>A (n.*1069G>A)
c.1288G>A (p.Ala430Thr)
gnomAD v4
1g.7663847G>CCA338126662CAMTA1c.1300G>C (p.Ala434Pro)
c.*1151G>C (n.*1151G>C)
c.1210G>C (p.Ala404Pro)
c.1228G>C (p.Ala410Pro)
c.*1069G>C (n.*1069G>C)
c.1288G>C (p.Ala430Pro)
1g.7663847G=CA1152023767CAMTA1c.1300G= (p.Ala434=)
c.*1151G= (n.*1151G=)
c.1210G= (p.Ala404=)
c.1228G= (p.Ala410=)
c.*1069G= (n.*1069G=)
c.1288G= (p.Ala430=)
1g.7663847G>TCA566421CAMTA1c.1300G>T (p.Ala434Ser)
c.*1151G>T (n.*1151G>T)
c.1210G>T (p.Ala404Ser)
c.1228G>T (p.Ala410Ser)
c.*1069G>T (n.*1069G>T)
c.1288G>T (p.Ala430Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663848C>ACA338126665CAMTA1c.1301C>A (p.Ala434Asp)
c.*1152C>A (n.*1152C>A)
c.1211C>A (p.Ala404Asp)
c.1229C>A (p.Ala410Asp)
c.*1070C>A (n.*1070C>A)
c.1289C>A (p.Ala430Asp)
1g.7663848C>GCA338126667CAMTA1c.1301C>G (p.Ala434Gly)
c.*1152C>G (n.*1152C>G)
c.1211C>G (p.Ala404Gly)
c.1229C>G (p.Ala410Gly)
c.*1070C>G (n.*1070C>G)
c.1289C>G (p.Ala430Gly)
1g.7663848C>TCA338126670CAMTA1c.1301C>T (p.Ala434Val)
c.*1152C>T (n.*1152C>T)
c.1211C>T (p.Ala404Val)
c.1229C>T (p.Ala410Val)
c.*1070C>T (n.*1070C>T)
c.1289C>T (p.Ala430Val)
1g.7663849C>ACA416026946CAMTA1c.1302C>A (p.Ala434=)
c.*1153C>A (n.*1153C>A)
c.1212C>A (p.Ala404=)
c.1230C>A (p.Ala410=)
c.*1071C>A (n.*1071C>A)
c.1290C>A (p.Ala430=)
dbSNP
1g.7663849C=CA1152023768CAMTA1c.1302C= (p.Ala434=)
c.*1153C= (n.*1153C=)
c.1212C= (p.Ala404=)
c.1230C= (p.Ala410=)
c.*1071C= (n.*1071C=)
c.1290C= (p.Ala430=)
1g.7663849C>GCA416026947CAMTA1c.1302C>G (p.Ala434=)
c.*1153C>G (n.*1153C>G)
c.1212C>G (p.Ala404=)
c.1230C>G (p.Ala410=)
c.*1071C>G (n.*1071C>G)
c.1290C>G (p.Ala430=)
gnomAD v4
1g.7663849C>TCA416026948CAMTA1c.1302C>T (p.Ala434=)
c.*1153C>T (n.*1153C>T)
c.1212C>T (p.Ala404=)
c.1230C>T (p.Ala410=)
c.*1071C>T (n.*1071C>T)
c.1290C>T (p.Ala430=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7663850G>ACA566422CAMTA1c.1303G>A (p.Val435Met)
c.*1154G>A (n.*1154G>A)
c.1213G>A (p.Val405Met)
c.1231G>A (p.Val411Met)
c.*1072G>A (n.*1072G>A)
c.1291G>A (p.Val431Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663850G>CCA338126673CAMTA1c.1303G>C (p.Val435Leu)
c.*1154G>C (n.*1154G>C)
c.1213G>C (p.Val405Leu)
c.1231G>C (p.Val411Leu)
c.*1072G>C (n.*1072G>C)
c.1291G>C (p.Val431Leu)
1g.7663850G=CA1142040118CAMTA1c.1303G= (p.Val435=)
c.*1154G= (n.*1154G=)
c.1213G= (p.Val405=)
c.1231G= (p.Val411=)
c.*1072G= (n.*1072G=)
c.1291G= (p.Val431=)
1g.7663850G>TCA338126675CAMTA1c.1303G>T (p.Val435Leu)
c.*1154G>T (n.*1154G>T)
c.1213G>T (p.Val405Leu)
c.1231G>T (p.Val411Leu)
c.*1072G>T (n.*1072G>T)
c.1291G>T (p.Val431Leu)
1g.7663851T>ACA338126677CAMTA1c.1304T>A (p.Val435Glu)
c.*1155T>A (n.*1155T>A)
c.1214T>A (p.Val405Glu)
c.1232T>A (p.Val411Glu)
c.*1073T>A (n.*1073T>A)
c.1292T>A (p.Val431Glu)
1g.7663851T>CCA338126680CAMTA1c.1304T>C (p.Val435Ala)
c.*1155T>C (n.*1155T>C)
c.1214T>C (p.Val405Ala)
c.1232T>C (p.Val411Ala)
c.*1073T>C (n.*1073T>C)
c.1292T>C (p.Val431Ala)
1g.7663851T>GCA338126682CAMTA1c.1304T>G (p.Val435Gly)
c.*1155T>G (n.*1155T>G)
c.1214T>G (p.Val405Gly)
c.1232T>G (p.Val411Gly)
c.*1073T>G (n.*1073T>G)
c.1292T>G (p.Val431Gly)

Number of alleles fetched