Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
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

Number of alleles fetched