Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.113118763T>ACA388786482F7c.1090T>A (p.Tyr364Asn)
c.1156T>A (p.Tyr386Asn)
c.904T>A (p.Tyr302Asn)
n.1177T>A
c.949T>A (p.Tyr317Asn)
c.1198T>A (p.Tyr400Asn)
c.1012T>A (p.Tyr338Asn)
c.850T>A (p.Tyr284Asn)
c.1159T>A (p.Tyr387Asn)
c.994T>A (p.Tyr332Asn)
c.1243T>A (p.Tyr415Asn)
c.1057T>A (p.Tyr353Asn)
n.1174T>A
13g.113118763T>CCA388786483F7c.1090T>C (p.Tyr364His)
c.1156T>C (p.Tyr386His)
c.904T>C (p.Tyr302His)
n.1177T>C
c.949T>C (p.Tyr317His)
c.1198T>C (p.Tyr400His)
c.1012T>C (p.Tyr338His)
c.850T>C (p.Tyr284His)
c.1159T>C (p.Tyr387His)
c.994T>C (p.Tyr332His)
c.1243T>C (p.Tyr415His)
c.1057T>C (p.Tyr353His)
n.1174T>C
13g.113118763T>GCA388786485F7c.1090T>G (p.Tyr364Asp)
c.1156T>G (p.Tyr386Asp)
c.904T>G (p.Tyr302Asp)
n.1177T>G
c.949T>G (p.Tyr317Asp)
c.1198T>G (p.Tyr400Asp)
c.1012T>G (p.Tyr338Asp)
c.850T>G (p.Tyr284Asp)
c.1159T>G (p.Tyr387Asp)
c.994T>G (p.Tyr332Asp)
c.1243T>G (p.Tyr415Asp)
c.1057T>G (p.Tyr353Asp)
n.1174T>G
13g.113118766_113118783delCA2695218991F7c.1093_1110del (p.Met365_Tyr370del)
c.1159_1176del (p.Met387_Tyr392del)
c.907_924del (p.Met303_Tyr308del)
n.1180_1197del
c.952_969del (p.Met318_Tyr323del)
c.1201_1218del (p.Met401_Tyr406del)
c.1015_1032del (p.Met339_Tyr344del)
c.853_870del (p.Met285_Tyr290del)
c.1162_1179del (p.Met388_Tyr393del)
c.997_1014del (p.Met333_Tyr338del)
c.1246_1263del (p.Met416_Tyr421del)
c.1060_1077del (p.Met354_Tyr359del)
n.1177_1194del
13g.113118764A>CCA388786487F7c.1091A>C (p.Tyr364Ser)
c.1157A>C (p.Tyr386Ser)
c.905A>C (p.Tyr302Ser)
n.1178A>C
c.950A>C (p.Tyr317Ser)
c.1199A>C (p.Tyr400Ser)
c.1013A>C (p.Tyr338Ser)
c.851A>C (p.Tyr284Ser)
c.1160A>C (p.Tyr387Ser)
c.995A>C (p.Tyr332Ser)
c.1244A>C (p.Tyr415Ser)
c.1058A>C (p.Tyr353Ser)
n.1175A>C
13g.113118764A>GCA388786490F7c.1091A>G (p.Tyr364Cys)
c.1157A>G (p.Tyr386Cys)
c.905A>G (p.Tyr302Cys)
n.1178A>G
c.950A>G (p.Tyr317Cys)
c.1199A>G (p.Tyr400Cys)
c.1013A>G (p.Tyr338Cys)
c.851A>G (p.Tyr284Cys)
c.1160A>G (p.Tyr387Cys)
c.995A>G (p.Tyr332Cys)
c.1244A>G (p.Tyr415Cys)
c.1058A>G (p.Tyr353Cys)
n.1175A>G
 gnomAD v4
13g.113118764A>TCA388786491F7c.1091A>T (p.Tyr364Phe)
c.1157A>T (p.Tyr386Phe)
c.905A>T (p.Tyr302Phe)
n.1178A>T
c.950A>T (p.Tyr317Phe)
c.1199A>T (p.Tyr400Phe)
c.1013A>T (p.Tyr338Phe)
c.851A>T (p.Tyr284Phe)
c.1160A>T (p.Tyr387Phe)
c.995A>T (p.Tyr332Phe)
c.1244A>T (p.Tyr415Phe)
c.1058A>T (p.Tyr353Phe)
n.1175A>T
13g.113118765C>ACA388786493F7c.1092C>A (p.Tyr364Ter)
c.1158C>A (p.Tyr386Ter)
c.906C>A (p.Tyr302Ter)
n.1179C>A
c.951C>A (p.Tyr317Ter)
c.1200C>A (p.Tyr400Ter)
c.1014C>A (p.Tyr338Ter)
c.852C>A (p.Tyr284Ter)
c.1161C>A (p.Tyr387Ter)
c.996C>A (p.Tyr332Ter)
c.1245C>A (p.Tyr415Ter)
c.1059C>A (p.Tyr353Ter)
n.1176C>A
13g.113118765C=CA2120142639F7c.1092C= (p.Tyr364=)
c.1158C= (p.Tyr386=)
c.906C= (p.Tyr302=)
n.1179C=
c.951C= (p.Tyr317=)
c.1200C= (p.Tyr400=)
c.1014C= (p.Tyr338=)
c.852C= (p.Tyr284=)
c.1161C= (p.Tyr387=)
c.996C= (p.Tyr332=)
c.1245C= (p.Tyr415=)
c.1059C= (p.Tyr353=)
n.1176C=
13g.113118765C>GCA388786495F7c.1092C>G (p.Tyr364Ter)
c.1158C>G (p.Tyr386Ter)
c.906C>G (p.Tyr302Ter)
n.1179C>G
c.951C>G (p.Tyr317Ter)
c.1200C>G (p.Tyr400Ter)
c.1014C>G (p.Tyr338Ter)
c.852C>G (p.Tyr284Ter)
c.1161C>G (p.Tyr387Ter)
c.996C>G (p.Tyr332Ter)
c.1245C>G (p.Tyr415Ter)
c.1059C>G (p.Tyr353Ter)
n.1176C>G
13g.113118765C>TCA7060232F7c.1092C>T (p.Tyr364=)
c.1158C>T (p.Tyr386=)
c.906C>T (p.Tyr302=)
n.1179C>T
c.951C>T (p.Tyr317=)
c.1200C>T (p.Tyr400=)
c.1014C>T (p.Tyr338=)
c.852C>T (p.Tyr284=)
c.1161C>T (p.Tyr387=)
c.996C>T (p.Tyr332=)
c.1245C>T (p.Tyr415=)
c.1059C>T (p.Tyr353=)
n.1176C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118766A=CA2120142643F7c.1093A= (p.Met365=)
c.1159A= (p.Met387=)
c.907A= (p.Met303=)
n.1180A=
c.952A= (p.Met318=)
c.1201A= (p.Met401=)
c.1015A= (p.Met339=)
c.853A= (p.Met285=)
c.1162A= (p.Met388=)
c.997A= (p.Met333=)
c.1246A= (p.Met416=)
c.1060A= (p.Met354=)
n.1177A=
13g.113118766A>CCA388786500F7c.1093A>C (p.Met365Leu)
c.1159A>C (p.Met387Leu)
c.907A>C (p.Met303Leu)
n.1180A>C
c.952A>C (p.Met318Leu)
c.1201A>C (p.Met401Leu)
c.1015A>C (p.Met339Leu)
c.853A>C (p.Met285Leu)
c.1162A>C (p.Met388Leu)
c.997A>C (p.Met333Leu)
c.1246A>C (p.Met416Leu)
c.1060A>C (p.Met354Leu)
n.1177A>C
13g.113118766A>GCA388786501F7c.1093A>G (p.Met365Val)
c.1159A>G (p.Met387Val)
c.907A>G (p.Met303Val)
n.1180A>G
c.952A>G (p.Met318Val)
c.1201A>G (p.Met401Val)
c.1015A>G (p.Met339Val)
c.853A>G (p.Met285Val)
c.1162A>G (p.Met388Val)
c.997A>G (p.Met333Val)
c.1246A>G (p.Met416Val)
c.1060A>G (p.Met354Val)
n.1177A>G
 dbSNP gnomAD v3 gnomAD v4
13g.113118766A>TCA388786498F7c.1093A>T (p.Met365Leu)
c.1159A>T (p.Met387Leu)
c.907A>T (p.Met303Leu)
n.1180A>T
c.952A>T (p.Met318Leu)
c.1201A>T (p.Met401Leu)
c.1015A>T (p.Met339Leu)
c.853A>T (p.Met285Leu)
c.1162A>T (p.Met388Leu)
c.997A>T (p.Met333Leu)
c.1246A>T (p.Met416Leu)
c.1060A>T (p.Met354Leu)
n.1177A>T
13g.113118767T>ACA388786503F7c.1094T>A (p.Met365Lys)
c.1160T>A (p.Met387Lys)
c.908T>A (p.Met303Lys)
n.1181T>A
c.953T>A (p.Met318Lys)
c.1202T>A (p.Met401Lys)
c.1016T>A (p.Met339Lys)
c.854T>A (p.Met285Lys)
c.1163T>A (p.Met388Lys)
c.998T>A (p.Met333Lys)
c.1247T>A (p.Met416Lys)
c.1061T>A (p.Met354Lys)
n.1178T>A
13g.113118767T>CCA388786505F7c.1094T>C (p.Met365Thr)
c.1160T>C (p.Met387Thr)
c.908T>C (p.Met303Thr)
n.1181T>C
c.953T>C (p.Met318Thr)
c.1202T>C (p.Met401Thr)
c.1016T>C (p.Met339Thr)
c.854T>C (p.Met285Thr)
c.1163T>C (p.Met388Thr)
c.998T>C (p.Met333Thr)
c.1247T>C (p.Met416Thr)
c.1061T>C (p.Met354Thr)
n.1178T>C
 ClinVar dbSNP
13g.113118767T>GCA388786507F7c.1094T>G (p.Met365Arg)
c.1160T>G (p.Met387Arg)
c.908T>G (p.Met303Arg)
n.1181T>G
c.953T>G (p.Met318Arg)
c.1202T>G (p.Met401Arg)
c.1016T>G (p.Met339Arg)
c.854T>G (p.Met285Arg)
c.1163T>G (p.Met388Arg)
c.998T>G (p.Met333Arg)
c.1247T>G (p.Met416Arg)
c.1061T>G (p.Met354Arg)
n.1178T>G
13g.113118767T=CA2120142649F7c.1094T= (p.Met365=)
c.1160T= (p.Met387=)
c.908T= (p.Met303=)
n.1181T=
c.953T= (p.Met318=)
c.1202T= (p.Met401=)
c.1016T= (p.Met339=)
c.854T= (p.Met285=)
c.1163T= (p.Met388=)
c.998T= (p.Met333=)
c.1247T= (p.Met416=)
c.1061T= (p.Met354=)
n.1178T=
13g.113118768G>ACA388786509F7c.1095G>A (p.Met365Ile)
c.1161G>A (p.Met387Ile)
c.909G>A (p.Met303Ile)
n.1182G>A
c.954G>A (p.Met318Ile)
c.1203G>A (p.Met401Ile)
c.1017G>A (p.Met339Ile)
c.855G>A (p.Met285Ile)
c.1164G>A (p.Met388Ile)
c.999G>A (p.Met333Ile)
c.1248G>A (p.Met416Ile)
c.1062G>A (p.Met354Ile)
n.1179G>A
13g.113118768G>CCA388786511F7c.1095G>C (p.Met365Ile)
c.1161G>C (p.Met387Ile)
c.909G>C (p.Met303Ile)
n.1182G>C
c.954G>C (p.Met318Ile)
c.1203G>C (p.Met401Ile)
c.1017G>C (p.Met339Ile)
c.855G>C (p.Met285Ile)
c.1164G>C (p.Met388Ile)
c.999G>C (p.Met333Ile)
c.1248G>C (p.Met416Ile)
c.1062G>C (p.Met354Ile)
n.1179G>C
13g.113118768G=CA2120142655F7c.1095G= (p.Met365=)
c.1161G= (p.Met387=)
c.909G= (p.Met303=)
n.1182G=
c.954G= (p.Met318=)
c.1203G= (p.Met401=)
c.1017G= (p.Met339=)
c.855G= (p.Met285=)
c.1164G= (p.Met388=)
c.999G= (p.Met333=)
c.1248G= (p.Met416=)
c.1062G= (p.Met354=)
n.1179G=
13g.113118768G>TCA388786512F7c.1095G>T (p.Met365Ile)
c.1161G>T (p.Met387Ile)
c.909G>T (p.Met303Ile)
n.1182G>T
c.954G>T (p.Met318Ile)
c.1203G>T (p.Met401Ile)
c.1017G>T (p.Met339Ile)
c.855G>T (p.Met285Ile)
c.1164G>T (p.Met388Ile)
c.999G>T (p.Met333Ile)
c.1248G>T (p.Met416Ile)
c.1062G>T (p.Met354Ile)
n.1179G>T
 dbSNP gnomAD v3 gnomAD v4
13g.113118769T>ACA388786515F7c.1096T>A (p.Phe366Ile)
c.1162T>A (p.Phe388Ile)
c.910T>A (p.Phe304Ile)
n.1183T>A
c.955T>A (p.Phe319Ile)
c.1204T>A (p.Phe402Ile)
c.1018T>A (p.Phe340Ile)
c.856T>A (p.Phe286Ile)
c.1165T>A (p.Phe389Ile)
c.1000T>A (p.Phe334Ile)
c.1249T>A (p.Phe417Ile)
c.1063T>A (p.Phe355Ile)
n.1180T>A
 gnomAD v4
13g.113118769T>CCA388786519F7c.1096T>C (p.Phe366Leu)
c.1162T>C (p.Phe388Leu)
c.910T>C (p.Phe304Leu)
n.1183T>C
c.955T>C (p.Phe319Leu)
c.1204T>C (p.Phe402Leu)
c.1018T>C (p.Phe340Leu)
c.856T>C (p.Phe286Leu)
c.1165T>C (p.Phe389Leu)
c.1000T>C (p.Phe334Leu)
c.1249T>C (p.Phe417Leu)
c.1063T>C (p.Phe355Leu)
n.1180T>C
13g.113118769T>GCA388786517F7c.1096T>G (p.Phe366Val)
c.1162T>G (p.Phe388Val)
c.910T>G (p.Phe304Val)
n.1183T>G
c.955T>G (p.Phe319Val)
c.1204T>G (p.Phe402Val)
c.1018T>G (p.Phe340Val)
c.856T>G (p.Phe286Val)
c.1165T>G (p.Phe389Val)
c.1000T>G (p.Phe334Val)
c.1249T>G (p.Phe417Val)
c.1063T>G (p.Phe355Val)
n.1180T>G
13g.113118770T>ACA388786521F7c.1097T>A (p.Phe366Tyr)
c.1163T>A (p.Phe388Tyr)
c.911T>A (p.Phe304Tyr)
n.1184T>A
c.956T>A (p.Phe319Tyr)
c.1205T>A (p.Phe402Tyr)
c.1019T>A (p.Phe340Tyr)
c.857T>A (p.Phe286Tyr)
c.1166T>A (p.Phe389Tyr)
c.1001T>A (p.Phe334Tyr)
c.1250T>A (p.Phe417Tyr)
c.1064T>A (p.Phe355Tyr)
n.1181T>A
13g.113118770T>CCA7060233F7c.1097T>C (p.Phe366Ser)
c.1163T>C (p.Phe388Ser)
c.911T>C (p.Phe304Ser)
n.1184T>C
c.956T>C (p.Phe319Ser)
c.1205T>C (p.Phe402Ser)
c.1019T>C (p.Phe340Ser)
c.857T>C (p.Phe286Ser)
c.1166T>C (p.Phe389Ser)
c.1001T>C (p.Phe334Ser)
c.1250T>C (p.Phe417Ser)
c.1064T>C (p.Phe355Ser)
n.1181T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118770T>GCA256461792F7c.1097T>G (p.Phe366Cys)
c.1163T>G (p.Phe388Cys)
c.911T>G (p.Phe304Cys)
n.1184T>G
c.956T>G (p.Phe319Cys)
c.1205T>G (p.Phe402Cys)
c.1019T>G (p.Phe340Cys)
c.857T>G (p.Phe286Cys)
c.1166T>G (p.Phe389Cys)
c.1001T>G (p.Phe334Cys)
c.1250T>G (p.Phe417Cys)
c.1064T>G (p.Phe355Cys)
n.1181T>G
 dbSNP
13g.113118770T=CA2120142657F7c.1097T= (p.Phe366=)
c.1163T= (p.Phe388=)
c.911T= (p.Phe304=)
n.1184T=
c.956T= (p.Phe319=)
c.1205T= (p.Phe402=)
c.1019T= (p.Phe340=)
c.857T= (p.Phe286=)
c.1166T= (p.Phe389=)
c.1001T= (p.Phe334=)
c.1250T= (p.Phe417=)
c.1064T= (p.Phe355=)
n.1181T=
13g.113118771C>ACA388786525F7c.1098C>A (p.Phe366Leu)
c.1164C>A (p.Phe388Leu)
c.912C>A (p.Phe304Leu)
n.1185C>A
c.957C>A (p.Phe319Leu)
c.1206C>A (p.Phe402Leu)
c.1020C>A (p.Phe340Leu)
c.858C>A (p.Phe286Leu)
c.1167C>A (p.Phe389Leu)
c.1002C>A (p.Phe334Leu)
c.1251C>A (p.Phe417Leu)
c.1065C>A (p.Phe355Leu)
n.1182C>A
13g.113118771C>GCA388786526F7c.1098C>G (p.Phe366Leu)
c.1164C>G (p.Phe388Leu)
c.912C>G (p.Phe304Leu)
n.1185C>G
c.957C>G (p.Phe319Leu)
c.1206C>G (p.Phe402Leu)
c.1020C>G (p.Phe340Leu)
c.858C>G (p.Phe286Leu)
c.1167C>G (p.Phe389Leu)
c.1002C>G (p.Phe334Leu)
c.1251C>G (p.Phe417Leu)
c.1065C>G (p.Phe355Leu)
n.1182C>G
13g.113118771C>TCA485424040F7c.1098C>T (p.Phe366=)
c.1164C>T (p.Phe388=)
c.912C>T (p.Phe304=)
n.1185C>T
c.957C>T (p.Phe319=)
c.1206C>T (p.Phe402=)
c.1020C>T (p.Phe340=)
c.858C>T (p.Phe286=)
c.1167C>T (p.Phe389=)
c.1002C>T (p.Phe334=)
c.1251C>T (p.Phe417=)
c.1065C>T (p.Phe355=)
n.1182C>T
13g.113118772T>ACA388786529F7c.1099T>A (p.Cys367Ser)
c.1165T>A (p.Cys389Ser)
c.913T>A (p.Cys305Ser)
n.1186T>A
c.958T>A (p.Cys320Ser)
c.1207T>A (p.Cys403Ser)
c.1021T>A (p.Cys341Ser)
c.859T>A (p.Cys287Ser)
c.1168T>A (p.Cys390Ser)
c.1003T>A (p.Cys335Ser)
c.1252T>A (p.Cys418Ser)
c.1066T>A (p.Cys356Ser)
n.1183T>A
13g.113118772T>CCA7060234F7c.1099T>C (p.Cys367Arg)
c.1165T>C (p.Cys389Arg)
c.913T>C (p.Cys305Arg)
n.1186T>C
c.958T>C (p.Cys320Arg)
c.1207T>C (p.Cys403Arg)
c.1021T>C (p.Cys341Arg)
c.859T>C (p.Cys287Arg)
c.1168T>C (p.Cys390Arg)
c.1003T>C (p.Cys335Arg)
c.1252T>C (p.Cys418Arg)
c.1066T>C (p.Cys356Arg)
n.1183T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118772T>GCA121860F7c.1099T>G (p.Cys367Gly)
c.1165T>G (p.Cys389Gly)
c.913T>G (p.Cys305Gly)
n.1186T>G
c.958T>G (p.Cys320Gly)
c.1207T>G (p.Cys403Gly)
c.1021T>G (p.Cys341Gly)
c.859T>G (p.Cys287Gly)
c.1168T>G (p.Cys390Gly)
c.1003T>G (p.Cys335Gly)
c.1252T>G (p.Cys418Gly)
c.1066T>G (p.Cys356Gly)
n.1183T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118772T=CA2120142664F7c.1099T= (p.Cys367=)
c.1165T= (p.Cys389=)
c.913T= (p.Cys305=)
n.1186T=
c.958T= (p.Cys320=)
c.1207T= (p.Cys403=)
c.1021T= (p.Cys341=)
c.859T= (p.Cys287=)
c.1168T= (p.Cys390=)
c.1003T= (p.Cys335=)
c.1252T= (p.Cys418=)
c.1066T= (p.Cys356=)
n.1183T=
13g.113118773G>ACA388786534F7c.1100G>A (p.Cys367Tyr)
c.1166G>A (p.Cys389Tyr)
c.914G>A (p.Cys305Tyr)
n.1187G>A
c.959G>A (p.Cys320Tyr)
c.1208G>A (p.Cys403Tyr)
c.1022G>A (p.Cys341Tyr)
c.860G>A (p.Cys287Tyr)
c.1169G>A (p.Cys390Tyr)
c.1004G>A (p.Cys335Tyr)
c.1253G>A (p.Cys418Tyr)
c.1067G>A (p.Cys356Tyr)
n.1184G>A
 gnomAD v4
13g.113118773G>CCA388786532F7c.1100G>C (p.Cys367Ser)
c.1166G>C (p.Cys389Ser)
c.914G>C (p.Cys305Ser)
n.1187G>C
c.959G>C (p.Cys320Ser)
c.1208G>C (p.Cys403Ser)
c.1022G>C (p.Cys341Ser)
c.860G>C (p.Cys287Ser)
c.1169G>C (p.Cys390Ser)
c.1004G>C (p.Cys335Ser)
c.1253G>C (p.Cys418Ser)
c.1067G>C (p.Cys356Ser)
n.1184G>C
 gnomAD v4
13g.113118773G>TCA388786536F7c.1100G>T (p.Cys367Phe)
c.1166G>T (p.Cys389Phe)
c.914G>T (p.Cys305Phe)
n.1187G>T
c.959G>T (p.Cys320Phe)
c.1208G>T (p.Cys403Phe)
c.1022G>T (p.Cys341Phe)
c.860G>T (p.Cys287Phe)
c.1169G>T (p.Cys390Phe)
c.1004G>T (p.Cys335Phe)
c.1253G>T (p.Cys418Phe)
c.1067G>T (p.Cys356Phe)
n.1184G>T
 gnomAD v4
13g.113118774T>ACA388786538F7c.1101T>A (p.Cys367Ter)
c.1167T>A (p.Cys389Ter)
c.915T>A (p.Cys305Ter)
n.1188T>A
c.960T>A (p.Cys320Ter)
c.1209T>A (p.Cys403Ter)
c.1023T>A (p.Cys341Ter)
c.861T>A (p.Cys287Ter)
c.1170T>A (p.Cys390Ter)
c.1005T>A (p.Cys335Ter)
c.1254T>A (p.Cys418Ter)
c.1068T>A (p.Cys356Ter)
n.1185T>A
13g.113118774T>CCA485424041F7c.1101T>C (p.Cys367=)
c.1167T>C (p.Cys389=)
c.915T>C (p.Cys305=)
n.1188T>C
c.960T>C (p.Cys320=)
c.1209T>C (p.Cys403=)
c.1023T>C (p.Cys341=)
c.861T>C (p.Cys287=)
c.1170T>C (p.Cys390=)
c.1005T>C (p.Cys335=)
c.1254T>C (p.Cys418=)
c.1068T>C (p.Cys356=)
n.1185T>C
 gnomAD v4
13g.113118774T>GCA388786539F7c.1101T>G (p.Cys367Trp)
c.1167T>G (p.Cys389Trp)
c.915T>G (p.Cys305Trp)
n.1188T>G
c.960T>G (p.Cys320Trp)
c.1209T>G (p.Cys403Trp)
c.1023T>G (p.Cys341Trp)
c.861T>G (p.Cys287Trp)
c.1170T>G (p.Cys390Trp)
c.1005T>G (p.Cys335Trp)
c.1254T>G (p.Cys418Trp)
c.1068T>G (p.Cys356Trp)
n.1185T>G
13g.113118775G>ACA388786542F7c.1102G>A (p.Ala368Thr)
c.1168G>A (p.Ala390Thr)
c.916G>A (p.Ala306Thr)
n.1189G>A
c.961G>A (p.Ala321Thr)
c.1210G>A (p.Ala404Thr)
c.1024G>A (p.Ala342Thr)
c.862G>A (p.Ala288Thr)
c.1171G>A (p.Ala391Thr)
c.1006G>A (p.Ala336Thr)
c.1255G>A (p.Ala419Thr)
c.1069G>A (p.Ala357Thr)
n.1186G>A
 COSMIC
13g.113118775G>CCA388786543F7c.1102G>C (p.Ala368Pro)
c.1168G>C (p.Ala390Pro)
c.916G>C (p.Ala306Pro)
n.1189G>C
c.961G>C (p.Ala321Pro)
c.1210G>C (p.Ala404Pro)
c.1024G>C (p.Ala342Pro)
c.862G>C (p.Ala288Pro)
c.1171G>C (p.Ala391Pro)
c.1006G>C (p.Ala336Pro)
c.1255G>C (p.Ala419Pro)
c.1069G>C (p.Ala357Pro)
n.1186G>C
13g.113118775G>TCA388786545F7c.1102G>T (p.Ala368Ser)
c.1168G>T (p.Ala390Ser)
c.916G>T (p.Ala306Ser)
n.1189G>T
c.961G>T (p.Ala321Ser)
c.1210G>T (p.Ala404Ser)
c.1024G>T (p.Ala342Ser)
c.862G>T (p.Ala288Ser)
c.1171G>T (p.Ala391Ser)
c.1006G>T (p.Ala336Ser)
c.1255G>T (p.Ala419Ser)
c.1069G>T (p.Ala357Ser)
n.1186G>T
13g.113118776C>ACA388786547F7c.1103C>A (p.Ala368Asp)
c.1169C>A (p.Ala390Asp)
c.917C>A (p.Ala306Asp)
n.1190C>A
c.962C>A (p.Ala321Asp)
c.1211C>A (p.Ala404Asp)
c.1025C>A (p.Ala342Asp)
c.863C>A (p.Ala288Asp)
c.1172C>A (p.Ala391Asp)
c.1007C>A (p.Ala336Asp)
c.1256C>A (p.Ala419Asp)
c.1070C>A (p.Ala357Asp)
n.1187C>A
13g.113118776C>GCA388786549F7c.1103C>G (p.Ala368Gly)
c.1169C>G (p.Ala390Gly)
c.917C>G (p.Ala306Gly)
n.1190C>G
c.962C>G (p.Ala321Gly)
c.1211C>G (p.Ala404Gly)
c.1025C>G (p.Ala342Gly)
c.863C>G (p.Ala288Gly)
c.1172C>G (p.Ala391Gly)
c.1007C>G (p.Ala336Gly)
c.1256C>G (p.Ala419Gly)
c.1070C>G (p.Ala357Gly)
n.1187C>G
13g.113118776C>TCA388786550F7c.1103C>T (p.Ala368Val)
c.1169C>T (p.Ala390Val)
c.917C>T (p.Ala306Val)
n.1190C>T
c.962C>T (p.Ala321Val)
c.1211C>T (p.Ala404Val)
c.1025C>T (p.Ala342Val)
c.863C>T (p.Ala288Val)
c.1172C>T (p.Ala391Val)
c.1007C>T (p.Ala336Val)
c.1256C>T (p.Ala419Val)
c.1070C>T (p.Ala357Val)
n.1187C>T
13g.113118777C>ACA485424042F7c.1104C>A (p.Ala368=)
c.1170C>A (p.Ala390=)
c.918C>A (p.Ala306=)
n.1191C>A
c.963C>A (p.Ala321=)
c.1212C>A (p.Ala404=)
c.1026C>A (p.Ala342=)
c.864C>A (p.Ala288=)
c.1173C>A (p.Ala391=)
c.1008C>A (p.Ala336=)
c.1257C>A (p.Ala419=)
c.1071C>A (p.Ala357=)
n.1188C>A
13g.113118777C=CA2018007885F7c.1104C= (p.Ala368=)
c.1170C= (p.Ala390=)
c.918C= (p.Ala306=)
n.1191C=
c.963C= (p.Ala321=)
c.1212C= (p.Ala404=)
c.1026C= (p.Ala342=)
c.864C= (p.Ala288=)
c.1173C= (p.Ala391=)
c.1008C= (p.Ala336=)
c.1257C= (p.Ala419=)
c.1071C= (p.Ala357=)
n.1188C=
13g.113118777C>GCA485424043F7c.1104C>G (p.Ala368=)
c.1170C>G (p.Ala390=)
c.918C>G (p.Ala306=)
n.1191C>G
c.963C>G (p.Ala321=)
c.1212C>G (p.Ala404=)
c.1026C>G (p.Ala342=)
c.864C>G (p.Ala288=)
c.1173C>G (p.Ala391=)
c.1008C>G (p.Ala336=)
c.1257C>G (p.Ala419=)
c.1071C>G (p.Ala357=)
n.1188C>G
13g.113118777C>TCA7060235F7c.1104C>T (p.Ala368=)
c.1170C>T (p.Ala390=)
c.918C>T (p.Ala306=)
n.1191C>T
c.963C>T (p.Ala321=)
c.1212C>T (p.Ala404=)
c.1026C>T (p.Ala342=)
c.864C>T (p.Ala288=)
c.1173C>T (p.Ala391=)
c.1008C>T (p.Ala336=)
c.1257C>T (p.Ala419=)
c.1071C>T (p.Ala357=)
n.1188C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118778G>ACA7060236F7c.1105G>A (p.Gly369Ser)
c.1171G>A (p.Gly391Ser)
c.919G>A (p.Gly307Ser)
n.1192G>A
c.964G>A (p.Gly322Ser)
c.1213G>A (p.Gly405Ser)
c.1027G>A (p.Gly343Ser)
c.865G>A (p.Gly289Ser)
c.1174G>A (p.Gly392Ser)
c.1009G>A (p.Gly337Ser)
c.1258G>A (p.Gly420Ser)
c.1072G>A (p.Gly358Ser)
n.1189G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118778G>CCA388786555F7c.1105G>C (p.Gly369Arg)
c.1171G>C (p.Gly391Arg)
c.919G>C (p.Gly307Arg)
n.1192G>C
c.964G>C (p.Gly322Arg)
c.1213G>C (p.Gly405Arg)
c.1027G>C (p.Gly343Arg)
c.865G>C (p.Gly289Arg)
c.1174G>C (p.Gly392Arg)
c.1009G>C (p.Gly337Arg)
c.1258G>C (p.Gly420Arg)
c.1072G>C (p.Gly358Arg)
n.1189G>C
13g.113118778G=CA2120142680F7c.1105G= (p.Gly369=)
c.1171G= (p.Gly391=)
c.919G= (p.Gly307=)
n.1192G=
c.964G= (p.Gly322=)
c.1213G= (p.Gly405=)
c.1027G= (p.Gly343=)
c.865G= (p.Gly289=)
c.1174G= (p.Gly392=)
c.1009G= (p.Gly337=)
c.1258G= (p.Gly420=)
c.1072G= (p.Gly358=)
n.1189G=
13g.113118778G>TCA388786557F7c.1105G>T (p.Gly369Cys)
c.1171G>T (p.Gly391Cys)
c.919G>T (p.Gly307Cys)
n.1192G>T
c.964G>T (p.Gly322Cys)
c.1213G>T (p.Gly405Cys)
c.1027G>T (p.Gly343Cys)
c.865G>T (p.Gly289Cys)
c.1174G>T (p.Gly392Cys)
c.1009G>T (p.Gly337Cys)
c.1258G>T (p.Gly420Cys)
c.1072G>T (p.Gly358Cys)
n.1189G>T
13g.113118779G>ACA388786562F7c.1106G>A (p.Gly369Asp)
c.1172G>A (p.Gly391Asp)
c.920G>A (p.Gly307Asp)
n.1193G>A
c.965G>A (p.Gly322Asp)
c.1214G>A (p.Gly405Asp)
c.1028G>A (p.Gly343Asp)
c.866G>A (p.Gly289Asp)
c.1175G>A (p.Gly392Asp)
c.1010G>A (p.Gly337Asp)
c.1259G>A (p.Gly420Asp)
c.1073G>A (p.Gly358Asp)
n.1190G>A
 COSMIC COSMIC
13g.113118779G>CCA388786563F7c.1106G>C (p.Gly369Ala)
c.1172G>C (p.Gly391Ala)
c.920G>C (p.Gly307Ala)
n.1193G>C
c.965G>C (p.Gly322Ala)
c.1214G>C (p.Gly405Ala)
c.1028G>C (p.Gly343Ala)
c.866G>C (p.Gly289Ala)
c.1175G>C (p.Gly392Ala)
c.1010G>C (p.Gly337Ala)
c.1259G>C (p.Gly420Ala)
c.1073G>C (p.Gly358Ala)
n.1190G>C
13g.113118779G>TCA388786560F7c.1106G>T (p.Gly369Val)
c.1172G>T (p.Gly391Val)
c.920G>T (p.Gly307Val)
n.1193G>T
c.965G>T (p.Gly322Val)
c.1214G>T (p.Gly405Val)
c.1028G>T (p.Gly343Val)
c.866G>T (p.Gly289Val)
c.1175G>T (p.Gly392Val)
c.1010G>T (p.Gly337Val)
c.1259G>T (p.Gly420Val)
c.1073G>T (p.Gly358Val)
n.1190G>T
13g.113118780C>ACA485424044F7c.1107C>A (p.Gly369=)
c.1173C>A (p.Gly391=)
c.921C>A (p.Gly307=)
n.1194C>A
c.966C>A (p.Gly322=)
c.1215C>A (p.Gly405=)
c.1029C>A (p.Gly343=)
c.867C>A (p.Gly289=)
c.1176C>A (p.Gly392=)
c.1011C>A (p.Gly337=)
c.1260C>A (p.Gly420=)
c.1074C>A (p.Gly358=)
n.1191C>A
13g.113118780C>GCA485424046F7c.1107C>G (p.Gly369=)
c.1173C>G (p.Gly391=)
c.921C>G (p.Gly307=)
n.1194C>G
c.966C>G (p.Gly322=)
c.1215C>G (p.Gly405=)
c.1029C>G (p.Gly343=)
c.867C>G (p.Gly289=)
c.1176C>G (p.Gly392=)
c.1011C>G (p.Gly337=)
c.1260C>G (p.Gly420=)
c.1074C>G (p.Gly358=)
n.1191C>G
13g.113118780C>TCA485424045F7c.1107C>T (p.Gly369=)
c.1173C>T (p.Gly391=)
c.921C>T (p.Gly307=)
n.1194C>T
c.966C>T (p.Gly322=)
c.1215C>T (p.Gly405=)
c.1029C>T (p.Gly343=)
c.867C>T (p.Gly289=)
c.1176C>T (p.Gly392=)
c.1011C>T (p.Gly337=)
c.1260C>T (p.Gly420=)
c.1074C>T (p.Gly358=)
n.1191C>T
13g.113118781T>ACA388786567F7c.1108T>A (p.Tyr370Asn)
c.1174T>A (p.Tyr392Asn)
c.922T>A (p.Tyr308Asn)
n.1195T>A
c.967T>A (p.Tyr323Asn)
c.1216T>A (p.Tyr406Asn)
c.1030T>A (p.Tyr344Asn)
c.868T>A (p.Tyr290Asn)
c.1177T>A (p.Tyr393Asn)
c.1012T>A (p.Tyr338Asn)
c.1261T>A (p.Tyr421Asn)
c.1075T>A (p.Tyr359Asn)
n.1192T>A
13g.113118781T>CCA388786568F7c.1108T>C (p.Tyr370His)
c.1174T>C (p.Tyr392His)
c.922T>C (p.Tyr308His)
n.1195T>C
c.967T>C (p.Tyr323His)
c.1216T>C (p.Tyr406His)
c.1030T>C (p.Tyr344His)
c.868T>C (p.Tyr290His)
c.1177T>C (p.Tyr393His)
c.1012T>C (p.Tyr338His)
c.1261T>C (p.Tyr421His)
c.1075T>C (p.Tyr359His)
n.1192T>C
13g.113118781T>GCA388786570F7c.1108T>G (p.Tyr370Asp)
c.1174T>G (p.Tyr392Asp)
c.922T>G (p.Tyr308Asp)
n.1195T>G
c.967T>G (p.Tyr323Asp)
c.1216T>G (p.Tyr406Asp)
c.1030T>G (p.Tyr344Asp)
c.868T>G (p.Tyr290Asp)
c.1177T>G (p.Tyr393Asp)
c.1012T>G (p.Tyr338Asp)
c.1261T>G (p.Tyr421Asp)
c.1075T>G (p.Tyr359Asp)
n.1192T>G
13g.113118782A>CCA388786573F7c.1109A>C (p.Tyr370Ser)
c.1175A>C (p.Tyr392Ser)
c.923A>C (p.Tyr308Ser)
n.1196A>C
c.968A>C (p.Tyr323Ser)
c.1217A>C (p.Tyr406Ser)
c.1031A>C (p.Tyr344Ser)
c.869A>C (p.Tyr290Ser)
c.1178A>C (p.Tyr393Ser)
c.1013A>C (p.Tyr338Ser)
c.1262A>C (p.Tyr421Ser)
c.1076A>C (p.Tyr359Ser)
n.1193A>C
13g.113118782A>GCA388786574F7c.1109A>G (p.Tyr370Cys)
c.1175A>G (p.Tyr392Cys)
c.923A>G (p.Tyr308Cys)
n.1196A>G
c.968A>G (p.Tyr323Cys)
c.1217A>G (p.Tyr406Cys)
c.1031A>G (p.Tyr344Cys)
c.869A>G (p.Tyr290Cys)
c.1178A>G (p.Tyr393Cys)
c.1013A>G (p.Tyr338Cys)
c.1262A>G (p.Tyr421Cys)
c.1076A>G (p.Tyr359Cys)
n.1193A>G
 gnomAD v4
13g.113118782A>TCA388786577F7c.1109A>T (p.Tyr370Phe)
c.1175A>T (p.Tyr392Phe)
c.923A>T (p.Tyr308Phe)
n.1196A>T
c.968A>T (p.Tyr323Phe)
c.1217A>T (p.Tyr406Phe)
c.1031A>T (p.Tyr344Phe)
c.869A>T (p.Tyr290Phe)
c.1178A>T (p.Tyr393Phe)
c.1013A>T (p.Tyr338Phe)
c.1262A>T (p.Tyr421Phe)
c.1076A>T (p.Tyr359Phe)
n.1193A>T
13g.113118783C>ACA388786579F7c.1110C>A (p.Tyr370Ter)
c.1176C>A (p.Tyr392Ter)
c.924C>A (p.Tyr308Ter)
n.1197C>A
c.969C>A (p.Tyr323Ter)
c.1218C>A (p.Tyr406Ter)
c.1032C>A (p.Tyr344Ter)
c.870C>A (p.Tyr290Ter)
c.1179C>A (p.Tyr393Ter)
c.1014C>A (p.Tyr338Ter)
c.1263C>A (p.Tyr421Ter)
c.1077C>A (p.Tyr359Ter)
n.1194C>A
13g.113118783C>GCA388786581F7c.1110C>G (p.Tyr370Ter)
c.1176C>G (p.Tyr392Ter)
c.924C>G (p.Tyr308Ter)
n.1197C>G
c.969C>G (p.Tyr323Ter)
c.1218C>G (p.Tyr406Ter)
c.1032C>G (p.Tyr344Ter)
c.870C>G (p.Tyr290Ter)
c.1179C>G (p.Tyr393Ter)
c.1014C>G (p.Tyr338Ter)
c.1263C>G (p.Tyr421Ter)
c.1077C>G (p.Tyr359Ter)
n.1194C>G
13g.113118783C>TCA485424047F7c.1110C>T (p.Tyr370=)
c.1176C>T (p.Tyr392=)
c.924C>T (p.Tyr308=)
n.1197C>T
c.969C>T (p.Tyr323=)
c.1218C>T (p.Tyr406=)
c.1032C>T (p.Tyr344=)
c.870C>T (p.Tyr290=)
c.1179C>T (p.Tyr393=)
c.1014C>T (p.Tyr338=)
c.1263C>T (p.Tyr421=)
c.1077C>T (p.Tyr359=)
n.1194C>T
13g.113118784T>ACA388786584F7c.1111T>A (p.Ser371Thr)
c.1177T>A (p.Ser393Thr)
c.925T>A (p.Ser309Thr)
n.1198T>A
c.970T>A (p.Ser324Thr)
c.1219T>A (p.Ser407Thr)
c.1033T>A (p.Ser345Thr)
c.871T>A (p.Ser291Thr)
c.1180T>A (p.Ser394Thr)
c.1015T>A (p.Ser339Thr)
c.1264T>A (p.Ser422Thr)
c.1078T>A (p.Ser360Thr)
n.1195T>A
13g.113118784T>CCA388786585F7c.1111T>C (p.Ser371Pro)
c.1177T>C (p.Ser393Pro)
c.925T>C (p.Ser309Pro)
n.1198T>C
c.970T>C (p.Ser324Pro)
c.1219T>C (p.Ser407Pro)
c.1033T>C (p.Ser345Pro)
c.871T>C (p.Ser291Pro)
c.1180T>C (p.Ser394Pro)
c.1015T>C (p.Ser339Pro)
c.1264T>C (p.Ser422Pro)
c.1078T>C (p.Ser360Pro)
n.1195T>C
13g.113118784T>GCA388786587F7c.1111T>G (p.Ser371Ala)
c.1177T>G (p.Ser393Ala)
c.925T>G (p.Ser309Ala)
n.1198T>G
c.970T>G (p.Ser324Ala)
c.1219T>G (p.Ser407Ala)
c.1033T>G (p.Ser345Ala)
c.871T>G (p.Ser291Ala)
c.1180T>G (p.Ser394Ala)
c.1015T>G (p.Ser339Ala)
c.1264T>G (p.Ser422Ala)
c.1078T>G (p.Ser360Ala)
n.1195T>G
13g.113118785C>ACA388786589F7c.1112C>A (p.Ser371Ter)
c.1178C>A (p.Ser393Ter)
c.926C>A (p.Ser309Ter)
n.1199C>A
c.971C>A (p.Ser324Ter)
c.1220C>A (p.Ser407Ter)
c.1034C>A (p.Ser345Ter)
c.872C>A (p.Ser291Ter)
c.1181C>A (p.Ser394Ter)
c.1016C>A (p.Ser339Ter)
c.1265C>A (p.Ser422Ter)
c.1079C>A (p.Ser360Ter)
n.1196C>A
13g.113118785C=CA2120142685F7c.1112C= (p.Ser371=)
c.1178C= (p.Ser393=)
c.926C= (p.Ser309=)
n.1199C=
c.971C= (p.Ser324=)
c.1220C= (p.Ser407=)
c.1034C= (p.Ser345=)
c.872C= (p.Ser291=)
c.1181C= (p.Ser394=)
c.1016C= (p.Ser339=)
c.1265C= (p.Ser422=)
c.1079C= (p.Ser360=)
n.1196C=
13g.113118785C>GCA388786591F7c.1112C>G (p.Ser371Trp)
c.1178C>G (p.Ser393Trp)
c.926C>G (p.Ser309Trp)
n.1199C>G
c.971C>G (p.Ser324Trp)
c.1220C>G (p.Ser407Trp)
c.1034C>G (p.Ser345Trp)
c.872C>G (p.Ser291Trp)
c.1181C>G (p.Ser394Trp)
c.1016C>G (p.Ser339Trp)
c.1265C>G (p.Ser422Trp)
c.1079C>G (p.Ser360Trp)
n.1196C>G
13g.113118785C>TCA7060237F7c.1112C>T (p.Ser371Leu)
c.1178C>T (p.Ser393Leu)
c.926C>T (p.Ser309Leu)
n.1199C>T
c.971C>T (p.Ser324Leu)
c.1220C>T (p.Ser407Leu)
c.1034C>T (p.Ser345Leu)
c.872C>T (p.Ser291Leu)
c.1181C>T (p.Ser394Leu)
c.1016C>T (p.Ser339Leu)
c.1265C>T (p.Ser422Leu)
c.1079C>T (p.Ser360Leu)
n.1196C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113118786G>ACA7060238F7c.1113G>A (p.Ser371=)
c.1179G>A (p.Ser393=)
c.927G>A (p.Ser309=)
n.1200G>A
c.972G>A (p.Ser324=)
c.1221G>A (p.Ser407=)
c.1035G>A (p.Ser345=)
c.873G>A (p.Ser291=)
c.1182G>A (p.Ser394=)
c.1017G>A (p.Ser339=)
c.1266G>A (p.Ser422=)
c.1080G>A (p.Ser360=)
n.1197G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118786G>CCA485424048F7c.1113G>C (p.Ser371=)
c.1179G>C (p.Ser393=)
c.927G>C (p.Ser309=)
n.1200G>C
c.972G>C (p.Ser324=)
c.1221G>C (p.Ser407=)
c.1035G>C (p.Ser345=)
c.873G>C (p.Ser291=)
c.1182G>C (p.Ser394=)
c.1017G>C (p.Ser339=)
c.1266G>C (p.Ser422=)
c.1080G>C (p.Ser360=)
n.1197G>C
13g.113118786G=CA2120142693F7c.1113G= (p.Ser371=)
c.1179G= (p.Ser393=)
c.927G= (p.Ser309=)
n.1200G=
c.972G= (p.Ser324=)
c.1221G= (p.Ser407=)
c.1035G= (p.Ser345=)
c.873G= (p.Ser291=)
c.1182G= (p.Ser394=)
c.1017G= (p.Ser339=)
c.1266G= (p.Ser422=)
c.1080G= (p.Ser360=)
n.1197G=
13g.113118786G>TCA485424049F7c.1113G>T (p.Ser371=)
c.1179G>T (p.Ser393=)
c.927G>T (p.Ser309=)
n.1200G>T
c.972G>T (p.Ser324=)
c.1221G>T (p.Ser407=)
c.1035G>T (p.Ser345=)
c.873G>T (p.Ser291=)
c.1182G>T (p.Ser394=)
c.1017G>T (p.Ser339=)
c.1266G>T (p.Ser422=)
c.1080G>T (p.Ser360=)
n.1197G>T
13g.113118787G>ACA388786599F7c.1114G>A (p.Asp372Asn)
c.1180G>A (p.Asp394Asn)
c.928G>A (p.Asp310Asn)
n.1201G>A
c.973G>A (p.Asp325Asn)
c.1222G>A (p.Asp408Asn)
c.1036G>A (p.Asp346Asn)
c.874G>A (p.Asp292Asn)
c.1183G>A (p.Asp395Asn)
c.1018G>A (p.Asp340Asn)
c.1267G>A (p.Asp423Asn)
c.1081G>A (p.Asp361Asn)
n.1198G>A
13g.113118787G>CCA388786596F7c.1114G>C (p.Asp372His)
c.1180G>C (p.Asp394His)
c.928G>C (p.Asp310His)
n.1201G>C
c.973G>C (p.Asp325His)
c.1222G>C (p.Asp408His)
c.1036G>C (p.Asp346His)
c.874G>C (p.Asp292His)
c.1183G>C (p.Asp395His)
c.1018G>C (p.Asp340His)
c.1267G>C (p.Asp423His)
c.1081G>C (p.Asp361His)
n.1198G>C
13g.113118787G=CA2120142698F7c.1114G= (p.Asp372=)
c.1180G= (p.Asp394=)
c.928G= (p.Asp310=)
n.1201G=
c.973G= (p.Asp325=)
c.1222G= (p.Asp408=)
c.1036G= (p.Asp346=)
c.874G= (p.Asp292=)
c.1183G= (p.Asp395=)
c.1018G= (p.Asp340=)
c.1267G= (p.Asp423=)
c.1081G= (p.Asp361=)
n.1198G=
13g.113118787G>TCA388786598F7c.1114G>T (p.Asp372Tyr)
c.1180G>T (p.Asp394Tyr)
c.928G>T (p.Asp310Tyr)
n.1201G>T
c.973G>T (p.Asp325Tyr)
c.1222G>T (p.Asp408Tyr)
c.1036G>T (p.Asp346Tyr)
c.874G>T (p.Asp292Tyr)
c.1183G>T (p.Asp395Tyr)
c.1018G>T (p.Asp340Tyr)
c.1267G>T (p.Asp423Tyr)
c.1081G>T (p.Asp361Tyr)
n.1198G>T
 dbSNP
13g.113118788A>CCA388786601F7c.1115A>C (p.Asp372Ala)
c.1181A>C (p.Asp394Ala)
c.929A>C (p.Asp310Ala)
n.1202A>C
c.974A>C (p.Asp325Ala)
c.1223A>C (p.Asp408Ala)
c.1037A>C (p.Asp346Ala)
c.875A>C (p.Asp292Ala)
c.1184A>C (p.Asp395Ala)
c.1019A>C (p.Asp340Ala)
c.1268A>C (p.Asp423Ala)
c.1082A>C (p.Asp361Ala)
n.1199A>C
13g.113118788A>GCA388786602F7c.1115A>G (p.Asp372Gly)
c.1181A>G (p.Asp394Gly)
c.929A>G (p.Asp310Gly)
n.1202A>G
c.974A>G (p.Asp325Gly)
c.1223A>G (p.Asp408Gly)
c.1037A>G (p.Asp346Gly)
c.875A>G (p.Asp292Gly)
c.1184A>G (p.Asp395Gly)
c.1019A>G (p.Asp340Gly)
c.1268A>G (p.Asp423Gly)
c.1082A>G (p.Asp361Gly)
n.1199A>G
 gnomAD v4
13g.113118788A>TCA388786604F7c.1115A>T (p.Asp372Val)
c.1181A>T (p.Asp394Val)
c.929A>T (p.Asp310Val)
n.1202A>T
c.974A>T (p.Asp325Val)
c.1223A>T (p.Asp408Val)
c.1037A>T (p.Asp346Val)
c.875A>T (p.Asp292Val)
c.1184A>T (p.Asp395Val)
c.1019A>T (p.Asp340Val)
c.1268A>T (p.Asp423Val)
c.1082A>T (p.Asp361Val)
n.1199A>T
13g.113118789T>ACA388786606F7c.1116T>A (p.Asp372Glu)
c.1182T>A (p.Asp394Glu)
c.930T>A (p.Asp310Glu)
n.1203T>A
c.975T>A (p.Asp325Glu)
c.1224T>A (p.Asp408Glu)
c.1038T>A (p.Asp346Glu)
c.876T>A (p.Asp292Glu)
c.1185T>A (p.Asp395Glu)
c.1020T>A (p.Asp340Glu)
c.1269T>A (p.Asp423Glu)
c.1083T>A (p.Asp361Glu)
n.1200T>A
13g.113118789T>CCA485021178F7c.1116T>C (p.Asp372=)
c.1182T>C (p.Asp394=)
c.930T>C (p.Asp310=)
n.1203T>C
c.975T>C (p.Asp325=)
c.1224T>C (p.Asp408=)
c.1038T>C (p.Asp346=)
c.876T>C (p.Asp292=)
c.1185T>C (p.Asp395=)
c.1020T>C (p.Asp340=)
c.1269T>C (p.Asp423=)
c.1083T>C (p.Asp361=)
n.1200T>C
 dbSNP gnomAD v2 gnomAD v4
13g.113118789T>GCA388786607F7c.1116T>G (p.Asp372Glu)
c.1182T>G (p.Asp394Glu)
c.930T>G (p.Asp310Glu)
n.1203T>G
c.975T>G (p.Asp325Glu)
c.1224T>G (p.Asp408Glu)
c.1038T>G (p.Asp346Glu)
c.876T>G (p.Asp292Glu)
c.1185T>G (p.Asp395Glu)
c.1020T>G (p.Asp340Glu)
c.1269T>G (p.Asp423Glu)
c.1083T>G (p.Asp361Glu)
n.1200T>G
13g.113118789T=CA2120142703F7c.1116T= (p.Asp372=)
c.1182T= (p.Asp394=)
c.930T= (p.Asp310=)
n.1203T=
c.975T= (p.Asp325=)
c.1224T= (p.Asp408=)
c.1038T= (p.Asp346=)
c.876T= (p.Asp292=)
c.1185T= (p.Asp395=)
c.1020T= (p.Asp340=)
c.1269T= (p.Asp423=)
c.1083T= (p.Asp361=)
n.1200T=
13g.113118790G>ACA388786610F7c.1117G>A (p.Gly373Ser)
c.1183G>A (p.Gly395Ser)
c.931G>A (p.Gly311Ser)
n.1204G>A
c.976G>A (p.Gly326Ser)
c.1225G>A (p.Gly409Ser)
c.1039G>A (p.Gly347Ser)
c.877G>A (p.Gly293Ser)
c.1186G>A (p.Gly396Ser)
c.1021G>A (p.Gly341Ser)
c.1270G>A (p.Gly424Ser)
c.1084G>A (p.Gly362Ser)
n.1201G>A
13g.113118790G>CCA388786612F7c.1117G>C (p.Gly373Arg)
c.1183G>C (p.Gly395Arg)
c.931G>C (p.Gly311Arg)
n.1204G>C
c.976G>C (p.Gly326Arg)
c.1225G>C (p.Gly409Arg)
c.1039G>C (p.Gly347Arg)
c.877G>C (p.Gly293Arg)
c.1186G>C (p.Gly396Arg)
c.1021G>C (p.Gly341Arg)
c.1270G>C (p.Gly424Arg)
c.1084G>C (p.Gly362Arg)
n.1201G>C
13g.113118790G>TCA388786614F7c.1117G>T (p.Gly373Cys)
c.1183G>T (p.Gly395Cys)
c.931G>T (p.Gly311Cys)
n.1204G>T
c.976G>T (p.Gly326Cys)
c.1225G>T (p.Gly409Cys)
c.1039G>T (p.Gly347Cys)
c.877G>T (p.Gly293Cys)
c.1186G>T (p.Gly396Cys)
c.1021G>T (p.Gly341Cys)
c.1270G>T (p.Gly424Cys)
c.1084G>T (p.Gly362Cys)
n.1201G>T
13g.113118791G>ACA388786616F7c.1118G>A (p.Gly373Asp)
c.1184G>A (p.Gly395Asp)
c.932G>A (p.Gly311Asp)
n.1205G>A
c.977G>A (p.Gly326Asp)
c.1226G>A (p.Gly409Asp)
c.1040G>A (p.Gly347Asp)
c.878G>A (p.Gly293Asp)
c.1187G>A (p.Gly396Asp)
c.1022G>A (p.Gly341Asp)
c.1271G>A (p.Gly424Asp)
c.1085G>A (p.Gly362Asp)
n.1202G>A
 gnomAD v4
13g.113118791G>CCA388786618F7c.1118G>C (p.Gly373Ala)
c.1184G>C (p.Gly395Ala)
c.932G>C (p.Gly311Ala)
n.1205G>C
c.977G>C (p.Gly326Ala)
c.1226G>C (p.Gly409Ala)
c.1040G>C (p.Gly347Ala)
c.878G>C (p.Gly293Ala)
c.1187G>C (p.Gly396Ala)
c.1022G>C (p.Gly341Ala)
c.1271G>C (p.Gly424Ala)
c.1085G>C (p.Gly362Ala)
n.1202G>C
13g.113118791G>TCA388786620F7c.1118G>T (p.Gly373Val)
c.1184G>T (p.Gly395Val)
c.932G>T (p.Gly311Val)
n.1205G>T
c.977G>T (p.Gly326Val)
c.1226G>T (p.Gly409Val)
c.1040G>T (p.Gly347Val)
c.878G>T (p.Gly293Val)
c.1187G>T (p.Gly396Val)
c.1022G>T (p.Gly341Val)
c.1271G>T (p.Gly424Val)
c.1085G>T (p.Gly362Val)
n.1202G>T
13g.113118792C>ACA485021179F7c.1119C>A (p.Gly373=)
c.1185C>A (p.Gly395=)
c.933C>A (p.Gly311=)
n.1206C>A
c.978C>A (p.Gly326=)
c.1227C>A (p.Gly409=)
c.1041C>A (p.Gly347=)
c.879C>A (p.Gly293=)
c.1188C>A (p.Gly396=)
c.1023C>A (p.Gly341=)
c.1272C>A (p.Gly424=)
c.1086C>A (p.Gly362=)
n.1203C>A
13g.113118792C>GCA485021180F7c.1119C>G (p.Gly373=)
c.1185C>G (p.Gly395=)
c.933C>G (p.Gly311=)
n.1206C>G
c.978C>G (p.Gly326=)
c.1227C>G (p.Gly409=)
c.1041C>G (p.Gly347=)
c.879C>G (p.Gly293=)
c.1188C>G (p.Gly396=)
c.1023C>G (p.Gly341=)
c.1272C>G (p.Gly424=)
c.1086C>G (p.Gly362=)
n.1203C>G
13g.113118792C>TCA485021181F7c.1119C>T (p.Gly373=)
c.1185C>T (p.Gly395=)
c.933C>T (p.Gly311=)
n.1206C>T
c.978C>T (p.Gly326=)
c.1227C>T (p.Gly409=)
c.1041C>T (p.Gly347=)
c.879C>T (p.Gly293=)
c.1188C>T (p.Gly396=)
c.1023C>T (p.Gly341=)
c.1272C>T (p.Gly424=)
c.1086C>T (p.Gly362=)
n.1203C>T
13g.113118793A>CCA388786623F7c.1120A>C (p.Ser374Arg)
c.1186A>C (p.Ser396Arg)
c.934A>C (p.Ser312Arg)
n.1207A>C
c.979A>C (p.Ser327Arg)
c.1228A>C (p.Ser410Arg)
c.1042A>C (p.Ser348Arg)
c.880A>C (p.Ser294Arg)
c.1189A>C (p.Ser397Arg)
c.1024A>C (p.Ser342Arg)
c.1273A>C (p.Ser425Arg)
c.1087A>C (p.Ser363Arg)
n.1204A>C
13g.113118793A>GCA388786625F7c.1120A>G (p.Ser374Gly)
c.1186A>G (p.Ser396Gly)
c.934A>G (p.Ser312Gly)
n.1207A>G
c.979A>G (p.Ser327Gly)
c.1228A>G (p.Ser410Gly)
c.1042A>G (p.Ser348Gly)
c.880A>G (p.Ser294Gly)
c.1189A>G (p.Ser397Gly)
c.1024A>G (p.Ser342Gly)
c.1273A>G (p.Ser425Gly)
c.1087A>G (p.Ser363Gly)
n.1204A>G
 gnomAD v4
13g.113118793A>TCA388786621F7c.1120A>T (p.Ser374Cys)
c.1186A>T (p.Ser396Cys)
c.934A>T (p.Ser312Cys)
n.1207A>T
c.979A>T (p.Ser327Cys)
c.1228A>T (p.Ser410Cys)
c.1042A>T (p.Ser348Cys)
c.880A>T (p.Ser294Cys)
c.1189A>T (p.Ser397Cys)
c.1024A>T (p.Ser342Cys)
c.1273A>T (p.Ser425Cys)
c.1087A>T (p.Ser363Cys)
n.1204A>T
13g.113118794G>ACA388786627F7c.1121G>A (p.Ser374Asn)
c.1187G>A (p.Ser396Asn)
c.935G>A (p.Ser312Asn)
n.1208G>A
c.980G>A (p.Ser327Asn)
c.1229G>A (p.Ser410Asn)
c.1043G>A (p.Ser348Asn)
c.881G>A (p.Ser294Asn)
c.1190G>A (p.Ser397Asn)
c.1025G>A (p.Ser342Asn)
c.1274G>A (p.Ser425Asn)
c.1088G>A (p.Ser363Asn)
n.1205G>A
13g.113118794G>CCA388786629F7c.1121G>C (p.Ser374Thr)
c.1187G>C (p.Ser396Thr)
c.935G>C (p.Ser312Thr)
n.1208G>C
c.980G>C (p.Ser327Thr)
c.1229G>C (p.Ser410Thr)
c.1043G>C (p.Ser348Thr)
c.881G>C (p.Ser294Thr)
c.1190G>C (p.Ser397Thr)
c.1025G>C (p.Ser342Thr)
c.1274G>C (p.Ser425Thr)
c.1088G>C (p.Ser363Thr)
n.1205G>C
13g.113118794G>TCA388786631F7c.1121G>T (p.Ser374Ile)
c.1187G>T (p.Ser396Ile)
c.935G>T (p.Ser312Ile)
n.1208G>T
c.980G>T (p.Ser327Ile)
c.1229G>T (p.Ser410Ile)
c.1043G>T (p.Ser348Ile)
c.881G>T (p.Ser294Ile)
c.1190G>T (p.Ser397Ile)
c.1025G>T (p.Ser342Ile)
c.1274G>T (p.Ser425Ile)
c.1088G>T (p.Ser363Ile)
n.1205G>T
 COSMIC COSMIC
13g.113118795delCA2800652057F7c.1122del (p.Ser374ArgfsTer23)
c.1188del (p.Ser396ArgfsTer23)
c.936del (p.Ser312ArgfsTer23)
n.1209del
c.981del (p.Ser327ArgfsTer23)
c.1230del (p.Ser410ArgfsTer23)
c.1044del (p.Ser348ArgfsTer23)
c.882del (p.Ser294ArgfsTer23)
c.1191del (p.Ser397ArgfsTer23)
c.1026del (p.Ser342ArgfsTer23)
c.1275del (p.Ser425ArgfsTer23)
c.1089del (p.Ser363ArgfsTer23)
n.1206del
13g.113118795C>ACA388786633F7c.1122C>A (p.Ser374Arg)
c.1188C>A (p.Ser396Arg)
c.936C>A (p.Ser312Arg)
n.1209C>A
c.981C>A (p.Ser327Arg)
c.1230C>A (p.Ser410Arg)
c.1044C>A (p.Ser348Arg)
c.882C>A (p.Ser294Arg)
c.1191C>A (p.Ser397Arg)
c.1026C>A (p.Ser342Arg)
c.1275C>A (p.Ser425Arg)
c.1089C>A (p.Ser363Arg)
n.1206C>A
13g.113118795C>GCA388786635F7c.1122C>G (p.Ser374Arg)
c.1188C>G (p.Ser396Arg)
c.936C>G (p.Ser312Arg)
n.1209C>G
c.981C>G (p.Ser327Arg)
c.1230C>G (p.Ser410Arg)
c.1044C>G (p.Ser348Arg)
c.882C>G (p.Ser294Arg)
c.1191C>G (p.Ser397Arg)
c.1026C>G (p.Ser342Arg)
c.1275C>G (p.Ser425Arg)
c.1089C>G (p.Ser363Arg)
n.1206C>G
13g.113118795C>TCA485021182F7c.1122C>T (p.Ser374=)
c.1188C>T (p.Ser396=)
c.936C>T (p.Ser312=)
n.1209C>T
c.981C>T (p.Ser327=)
c.1230C>T (p.Ser410=)
c.1044C>T (p.Ser348=)
c.882C>T (p.Ser294=)
c.1191C>T (p.Ser397=)
c.1026C>T (p.Ser342=)
c.1275C>T (p.Ser425=)
c.1089C>T (p.Ser363=)
n.1206C>T
13g.113118796A>CCA388786640F7c.1123A>C (p.Lys375Gln)
c.1189A>C (p.Lys397Gln)
c.937A>C (p.Lys313Gln)
n.1210A>C
c.982A>C (p.Lys328Gln)
c.1231A>C (p.Lys411Gln)
c.1045A>C (p.Lys349Gln)
c.883A>C (p.Lys295Gln)
c.1192A>C (p.Lys398Gln)
c.1027A>C (p.Lys343Gln)
c.1276A>C (p.Lys426Gln)
c.1090A>C (p.Lys364Gln)
n.1207A>C
13g.113118796A>GCA388786637F7c.1123A>G (p.Lys375Glu)
c.1189A>G (p.Lys397Glu)
c.937A>G (p.Lys313Glu)
n.1210A>G
c.982A>G (p.Lys328Glu)
c.1231A>G (p.Lys411Glu)
c.1045A>G (p.Lys349Glu)
c.883A>G (p.Lys295Glu)
c.1192A>G (p.Lys398Glu)
c.1027A>G (p.Lys343Glu)
c.1276A>G (p.Lys426Glu)
c.1090A>G (p.Lys364Glu)
n.1207A>G
13g.113118796A>TCA388786639F7c.1123A>T (p.Lys375Ter)
c.1189A>T (p.Lys397Ter)
c.937A>T (p.Lys313Ter)
n.1210A>T
c.982A>T (p.Lys328Ter)
c.1231A>T (p.Lys411Ter)
c.1045A>T (p.Lys349Ter)
c.883A>T (p.Lys295Ter)
c.1192A>T (p.Lys398Ter)
c.1027A>T (p.Lys343Ter)
c.1276A>T (p.Lys426Ter)
c.1090A>T (p.Lys364Ter)
n.1207A>T
13g.113118797A>CCA388786644F7c.1124A>C (p.Lys375Thr)
c.1190A>C (p.Lys397Thr)
c.938A>C (p.Lys313Thr)
n.1211A>C
c.983A>C (p.Lys328Thr)
c.1232A>C (p.Lys411Thr)
c.1046A>C (p.Lys349Thr)
c.884A>C (p.Lys295Thr)
c.1193A>C (p.Lys398Thr)
c.1028A>C (p.Lys343Thr)
c.1277A>C (p.Lys426Thr)
c.1091A>C (p.Lys364Thr)
n.1208A>C
13g.113118797A>GCA388786646F7c.1124A>G (p.Lys375Arg)
c.1190A>G (p.Lys397Arg)
c.938A>G (p.Lys313Arg)
n.1211A>G
c.983A>G (p.Lys328Arg)
c.1232A>G (p.Lys411Arg)
c.1046A>G (p.Lys349Arg)
c.884A>G (p.Lys295Arg)
c.1193A>G (p.Lys398Arg)
c.1028A>G (p.Lys343Arg)
c.1277A>G (p.Lys426Arg)
c.1091A>G (p.Lys364Arg)
n.1208A>G
13g.113118797A>TCA388786648F7c.1124A>T (p.Lys375Met)
c.1190A>T (p.Lys397Met)
c.938A>T (p.Lys313Met)
n.1211A>T
c.983A>T (p.Lys328Met)
c.1232A>T (p.Lys411Met)
c.1046A>T (p.Lys349Met)
c.884A>T (p.Lys295Met)
c.1193A>T (p.Lys398Met)
c.1028A>T (p.Lys343Met)
c.1277A>T (p.Lys426Met)
c.1091A>T (p.Lys364Met)
n.1208A>T
13g.113118798G>ACA485021183F7c.1125G>A (p.Lys375=)
c.1191G>A (p.Lys397=)
c.939G>A (p.Lys313=)
n.1212G>A
c.984G>A (p.Lys328=)
c.1233G>A (p.Lys411=)
c.1047G>A (p.Lys349=)
c.885G>A (p.Lys295=)
c.1194G>A (p.Lys398=)
c.1029G>A (p.Lys343=)
c.1278G>A (p.Lys426=)
c.1092G>A (p.Lys364=)
n.1209G>A
 gnomAD v4
13g.113118798G>CCA388786650F7c.1125G>C (p.Lys375Asn)
c.1191G>C (p.Lys397Asn)
c.939G>C (p.Lys313Asn)
n.1212G>C
c.984G>C (p.Lys328Asn)
c.1233G>C (p.Lys411Asn)
c.1047G>C (p.Lys349Asn)
c.885G>C (p.Lys295Asn)
c.1194G>C (p.Lys398Asn)
c.1029G>C (p.Lys343Asn)
c.1278G>C (p.Lys426Asn)
c.1092G>C (p.Lys364Asn)
n.1209G>C
13g.113118798G>TCA388786652F7c.1125G>T (p.Lys375Asn)
c.1191G>T (p.Lys397Asn)
c.939G>T (p.Lys313Asn)
n.1212G>T
c.984G>T (p.Lys328Asn)
c.1233G>T (p.Lys411Asn)
c.1047G>T (p.Lys349Asn)
c.885G>T (p.Lys295Asn)
c.1194G>T (p.Lys398Asn)
c.1029G>T (p.Lys343Asn)
c.1278G>T (p.Lys426Asn)
c.1092G>T (p.Lys364Asn)
n.1209G>T
13g.113118799G>ACA388786655F7c.1126G>A (p.Asp376Asn)
c.1192G>A (p.Asp398Asn)
c.940G>A (p.Asp314Asn)
n.1213G>A
c.985G>A (p.Asp329Asn)
c.1234G>A (p.Asp412Asn)
c.1048G>A (p.Asp350Asn)
c.886G>A (p.Asp296Asn)
c.1195G>A (p.Asp399Asn)
c.1030G>A (p.Asp344Asn)
c.1279G>A (p.Asp427Asn)
c.1093G>A (p.Asp365Asn)
n.1210G>A
13g.113118799G>CCA388786659F7c.1126G>C (p.Asp376His)
c.1192G>C (p.Asp398His)
c.940G>C (p.Asp314His)
n.1213G>C
c.985G>C (p.Asp329His)
c.1234G>C (p.Asp412His)
c.1048G>C (p.Asp350His)
c.886G>C (p.Asp296His)
c.1195G>C (p.Asp399His)
c.1030G>C (p.Asp344His)
c.1279G>C (p.Asp427His)
c.1093G>C (p.Asp365His)
n.1210G>C
13g.113118799G>TCA388786657F7c.1126G>T (p.Asp376Tyr)
c.1192G>T (p.Asp398Tyr)
c.940G>T (p.Asp314Tyr)
n.1213G>T
c.985G>T (p.Asp329Tyr)
c.1234G>T (p.Asp412Tyr)
c.1048G>T (p.Asp350Tyr)
c.886G>T (p.Asp296Tyr)
c.1195G>T (p.Asp399Tyr)
c.1030G>T (p.Asp344Tyr)
c.1279G>T (p.Asp427Tyr)
c.1093G>T (p.Asp365Tyr)
n.1210G>T
13g.113118800A>CCA388786661F7c.1127A>C (p.Asp376Ala)
c.1193A>C (p.Asp398Ala)
c.941A>C (p.Asp314Ala)
n.1214A>C
c.986A>C (p.Asp329Ala)
c.1235A>C (p.Asp412Ala)
c.1049A>C (p.Asp350Ala)
c.887A>C (p.Asp296Ala)
c.1196A>C (p.Asp399Ala)
c.1031A>C (p.Asp344Ala)
c.1280A>C (p.Asp427Ala)
c.1094A>C (p.Asp365Ala)
n.1211A>C
13g.113118800A>GCA388786666F7c.1127A>G (p.Asp376Gly)
c.1193A>G (p.Asp398Gly)
c.941A>G (p.Asp314Gly)
n.1214A>G
c.986A>G (p.Asp329Gly)
c.1235A>G (p.Asp412Gly)
c.1049A>G (p.Asp350Gly)
c.887A>G (p.Asp296Gly)
c.1196A>G (p.Asp399Gly)
c.1031A>G (p.Asp344Gly)
c.1280A>G (p.Asp427Gly)
c.1094A>G (p.Asp365Gly)
n.1211A>G
13g.113118800A>TCA388786663F7c.1127A>T (p.Asp376Val)
c.1193A>T (p.Asp398Val)
c.941A>T (p.Asp314Val)
n.1214A>T
c.986A>T (p.Asp329Val)
c.1235A>T (p.Asp412Val)
c.1049A>T (p.Asp350Val)
c.887A>T (p.Asp296Val)
c.1196A>T (p.Asp399Val)
c.1031A>T (p.Asp344Val)
c.1280A>T (p.Asp427Val)
c.1094A>T (p.Asp365Val)
n.1211A>T
13g.113118801C>ACA388786667F7c.1128C>A (p.Asp376Glu)
c.1194C>A (p.Asp398Glu)
c.942C>A (p.Asp314Glu)
n.1215C>A
c.987C>A (p.Asp329Glu)
c.1236C>A (p.Asp412Glu)
c.1050C>A (p.Asp350Glu)
c.888C>A (p.Asp296Glu)
c.1197C>A (p.Asp399Glu)
c.1032C>A (p.Asp344Glu)
c.1281C>A (p.Asp427Glu)
c.1095C>A (p.Asp365Glu)
n.1212C>A
13g.113118801C>GCA388786669F7c.1128C>G (p.Asp376Glu)
c.1194C>G (p.Asp398Glu)
c.942C>G (p.Asp314Glu)
n.1215C>G
c.987C>G (p.Asp329Glu)
c.1236C>G (p.Asp412Glu)
c.1050C>G (p.Asp350Glu)
c.888C>G (p.Asp296Glu)
c.1197C>G (p.Asp399Glu)
c.1032C>G (p.Asp344Glu)
c.1281C>G (p.Asp427Glu)
c.1095C>G (p.Asp365Glu)
n.1212C>G
13g.113118801C>TCA485021184F7c.1128C>T (p.Asp376=)
c.1194C>T (p.Asp398=)
c.942C>T (p.Asp314=)
n.1215C>T
c.987C>T (p.Asp329=)
c.1236C>T (p.Asp412=)
c.1050C>T (p.Asp350=)
c.888C>T (p.Asp296=)
c.1197C>T (p.Asp399=)
c.1032C>T (p.Asp344=)
c.1281C>T (p.Asp427=)
c.1095C>T (p.Asp365=)
n.1212C>T
13g.113118802T>ACA388786670F7c.1129T>A (p.Ser377Thr)
c.1195T>A (p.Ser399Thr)
c.943T>A (p.Ser315Thr)
n.1216T>A
c.988T>A (p.Ser330Thr)
c.1237T>A (p.Ser413Thr)
c.1051T>A (p.Ser351Thr)
c.889T>A (p.Ser297Thr)
c.1198T>A (p.Ser400Thr)
c.1033T>A (p.Ser345Thr)
c.1282T>A (p.Ser428Thr)
c.1096T>A (p.Ser366Thr)
n.1213T>A
13g.113118802T>CCA388786671F7c.1129T>C (p.Ser377Pro)
c.1195T>C (p.Ser399Pro)
c.943T>C (p.Ser315Pro)
n.1216T>C
c.988T>C (p.Ser330Pro)
c.1237T>C (p.Ser413Pro)
c.1051T>C (p.Ser351Pro)
c.889T>C (p.Ser297Pro)
c.1198T>C (p.Ser400Pro)
c.1033T>C (p.Ser345Pro)
c.1282T>C (p.Ser428Pro)
c.1096T>C (p.Ser366Pro)
n.1213T>C
 dbSNP gnomAD v4
13g.113118802T>GCA388786674F7c.1129T>G (p.Ser377Ala)
c.1195T>G (p.Ser399Ala)
c.943T>G (p.Ser315Ala)
n.1216T>G
c.988T>G (p.Ser330Ala)
c.1237T>G (p.Ser413Ala)
c.1051T>G (p.Ser351Ala)
c.889T>G (p.Ser297Ala)
c.1198T>G (p.Ser400Ala)
c.1033T>G (p.Ser345Ala)
c.1282T>G (p.Ser428Ala)
c.1096T>G (p.Ser366Ala)
n.1213T>G
13g.113118802T=CA2120142708F7c.1129T= (p.Ser377=)
c.1195T= (p.Ser399=)
c.943T= (p.Ser315=)
n.1216T=
c.988T= (p.Ser330=)
c.1237T= (p.Ser413=)
c.1051T= (p.Ser351=)
c.889T= (p.Ser297=)
c.1198T= (p.Ser400=)
c.1033T= (p.Ser345=)
c.1282T= (p.Ser428=)
c.1096T= (p.Ser366=)
n.1213T=
13g.113118803C>ACA388786676F7c.1130C>A (p.Ser377Tyr)
c.1196C>A (p.Ser399Tyr)
c.944C>A (p.Ser315Tyr)
n.1217C>A
c.989C>A (p.Ser330Tyr)
c.1238C>A (p.Ser413Tyr)
c.1052C>A (p.Ser351Tyr)
c.890C>A (p.Ser297Tyr)
c.1199C>A (p.Ser400Tyr)
c.1034C>A (p.Ser345Tyr)
c.1283C>A (p.Ser428Tyr)
c.1097C>A (p.Ser366Tyr)
n.1214C>A
13g.113118803C>GCA388786678F7c.1130C>G (p.Ser377Cys)
c.1196C>G (p.Ser399Cys)
c.944C>G (p.Ser315Cys)
n.1217C>G
c.989C>G (p.Ser330Cys)
c.1238C>G (p.Ser413Cys)
c.1052C>G (p.Ser351Cys)
c.890C>G (p.Ser297Cys)
c.1199C>G (p.Ser400Cys)
c.1034C>G (p.Ser345Cys)
c.1283C>G (p.Ser428Cys)
c.1097C>G (p.Ser366Cys)
n.1214C>G
13g.113118803C>TCA388786680F7c.1130C>T (p.Ser377Phe)
c.1196C>T (p.Ser399Phe)
c.944C>T (p.Ser315Phe)
n.1217C>T
c.989C>T (p.Ser330Phe)
c.1238C>T (p.Ser413Phe)
c.1052C>T (p.Ser351Phe)
c.890C>T (p.Ser297Phe)
c.1199C>T (p.Ser400Phe)
c.1034C>T (p.Ser345Phe)
c.1283C>T (p.Ser428Phe)
c.1097C>T (p.Ser366Phe)
n.1214C>T
13g.113118804C>ACA485021185F7c.1131C>A (p.Ser377=)
c.1197C>A (p.Ser399=)
c.945C>A (p.Ser315=)
n.1218C>A
c.990C>A (p.Ser330=)
c.1239C>A (p.Ser413=)
c.1053C>A (p.Ser351=)
c.891C>A (p.Ser297=)
c.1200C>A (p.Ser400=)
c.1035C>A (p.Ser345=)
c.1284C>A (p.Ser428=)
c.1098C>A (p.Ser366=)
n.1215C>A
13g.113118804C>GCA485021186F7c.1131C>G (p.Ser377=)
c.1197C>G (p.Ser399=)
c.945C>G (p.Ser315=)
n.1218C>G
c.990C>G (p.Ser330=)
c.1239C>G (p.Ser413=)
c.1053C>G (p.Ser351=)
c.891C>G (p.Ser297=)
c.1200C>G (p.Ser400=)
c.1035C>G (p.Ser345=)
c.1284C>G (p.Ser428=)
c.1098C>G (p.Ser366=)
n.1215C>G
13g.113118804C>TCA485021187F7c.1131C>T (p.Ser377=)
c.1197C>T (p.Ser399=)
c.945C>T (p.Ser315=)
n.1218C>T
c.990C>T (p.Ser330=)
c.1239C>T (p.Ser413=)
c.1053C>T (p.Ser351=)
c.891C>T (p.Ser297=)
c.1200C>T (p.Ser400=)
c.1035C>T (p.Ser345=)
c.1284C>T (p.Ser428=)
c.1098C>T (p.Ser366=)
n.1215C>T
13g.113118805T>ACA388786683F7c.1132T>A (p.Cys378Ser)
c.1198T>A (p.Cys400Ser)
c.946T>A (p.Cys316Ser)
n.1219T>A
c.991T>A (p.Cys331Ser)
c.1240T>A (p.Cys414Ser)
c.1054T>A (p.Cys352Ser)
c.892T>A (p.Cys298Ser)
c.1201T>A (p.Cys401Ser)
c.1036T>A (p.Cys346Ser)
c.1285T>A (p.Cys429Ser)
c.1099T>A (p.Cys367Ser)
n.1216T>A
13g.113118805T>CCA388786685F7c.1132T>C (p.Cys378Arg)
c.1198T>C (p.Cys400Arg)
c.946T>C (p.Cys316Arg)
n.1219T>C
c.991T>C (p.Cys331Arg)
c.1240T>C (p.Cys414Arg)
c.1054T>C (p.Cys352Arg)
c.892T>C (p.Cys298Arg)
c.1201T>C (p.Cys401Arg)
c.1036T>C (p.Cys346Arg)
c.1285T>C (p.Cys429Arg)
c.1099T>C (p.Cys367Arg)
n.1216T>C
13g.113118805T>GCA388786687F7c.1132T>G (p.Cys378Gly)
c.1198T>G (p.Cys400Gly)
c.946T>G (p.Cys316Gly)
n.1219T>G
c.991T>G (p.Cys331Gly)
c.1240T>G (p.Cys414Gly)
c.1054T>G (p.Cys352Gly)
c.892T>G (p.Cys298Gly)
c.1201T>G (p.Cys401Gly)
c.1036T>G (p.Cys346Gly)
c.1285T>G (p.Cys429Gly)
c.1099T>G (p.Cys367Gly)
n.1216T>G
13g.113118806G>ACA388786693F7c.1133G>A (p.Cys378Tyr)
c.1199G>A (p.Cys400Tyr)
c.947G>A (p.Cys316Tyr)
n.1220G>A
c.992G>A (p.Cys331Tyr)
c.1241G>A (p.Cys414Tyr)
c.1055G>A (p.Cys352Tyr)
c.893G>A (p.Cys298Tyr)
c.1202G>A (p.Cys401Tyr)
c.1037G>A (p.Cys346Tyr)
c.1286G>A (p.Cys429Tyr)
c.1100G>A (p.Cys367Tyr)
n.1217G>A
 gnomAD v4
13g.113118806G>CCA388786690F7c.1133G>C (p.Cys378Ser)
c.1199G>C (p.Cys400Ser)
c.947G>C (p.Cys316Ser)
n.1220G>C
c.992G>C (p.Cys331Ser)
c.1241G>C (p.Cys414Ser)
c.1055G>C (p.Cys352Ser)
c.893G>C (p.Cys298Ser)
c.1202G>C (p.Cys401Ser)
c.1037G>C (p.Cys346Ser)
c.1286G>C (p.Cys429Ser)
c.1100G>C (p.Cys367Ser)
n.1217G>C
13g.113118806G>TCA388786691F7c.1133G>T (p.Cys378Phe)
c.1199G>T (p.Cys400Phe)
c.947G>T (p.Cys316Phe)
n.1220G>T
c.992G>T (p.Cys331Phe)
c.1241G>T (p.Cys414Phe)
c.1055G>T (p.Cys352Phe)
c.893G>T (p.Cys298Phe)
c.1202G>T (p.Cys401Phe)
c.1037G>T (p.Cys346Phe)
c.1286G>T (p.Cys429Phe)
c.1100G>T (p.Cys367Phe)
n.1217G>T
13g.113118807C>ACA388786695F7c.1134C>A (p.Cys378Ter)
c.1200C>A (p.Cys400Ter)
c.948C>A (p.Cys316Ter)
n.1221C>A
c.993C>A (p.Cys331Ter)
c.1242C>A (p.Cys414Ter)
c.1056C>A (p.Cys352Ter)
c.894C>A (p.Cys298Ter)
c.1203C>A (p.Cys401Ter)
c.1038C>A (p.Cys346Ter)
c.1287C>A (p.Cys429Ter)
c.1101C>A (p.Cys367Ter)
n.1218C>A
13g.113118807C=CA2120142713F7c.1134C= (p.Cys378=)
c.1200C= (p.Cys400=)
c.948C= (p.Cys316=)
n.1221C=
c.993C= (p.Cys331=)
c.1242C= (p.Cys414=)
c.1056C= (p.Cys352=)
c.894C= (p.Cys298=)
c.1203C= (p.Cys401=)
c.1038C= (p.Cys346=)
c.1287C= (p.Cys429=)
c.1101C= (p.Cys367=)
n.1218C=
13g.113118807C>GCA388786697F7c.1134C>G (p.Cys378Trp)
c.1200C>G (p.Cys400Trp)
c.948C>G (p.Cys316Trp)
n.1221C>G
c.993C>G (p.Cys331Trp)
c.1242C>G (p.Cys414Trp)
c.1056C>G (p.Cys352Trp)
c.894C>G (p.Cys298Trp)
c.1203C>G (p.Cys401Trp)
c.1038C>G (p.Cys346Trp)
c.1287C>G (p.Cys429Trp)
c.1101C>G (p.Cys367Trp)
n.1218C>G
13g.113118807C>TCA485021188F7c.1134C>T (p.Cys378=)
c.1200C>T (p.Cys400=)
c.948C>T (p.Cys316=)
n.1221C>T
c.993C>T (p.Cys331=)
c.1242C>T (p.Cys414=)
c.1056C>T (p.Cys352=)
c.894C>T (p.Cys298=)
c.1203C>T (p.Cys401=)
c.1038C>T (p.Cys346=)
c.1287C>T (p.Cys429=)
c.1101C>T (p.Cys367=)
n.1218C>T
 dbSNP gnomAD v3 gnomAD v4
13g.113118808A=CA2120142715F7c.1135A= (p.Lys379=)
c.1201A= (p.Lys401=)
c.949A= (p.Lys317=)
n.1222A=
c.994A= (p.Lys332=)
c.1243A= (p.Lys415=)
c.1057A= (p.Lys353=)
c.895A= (p.Lys299=)
c.1204A= (p.Lys402=)
c.1039A= (p.Lys347=)
c.1288A= (p.Lys430=)
c.1102A= (p.Lys368=)
n.1219A=
13g.113118808A>CCA388786699F7c.1135A>C (p.Lys379Gln)
c.1201A>C (p.Lys401Gln)
c.949A>C (p.Lys317Gln)
n.1222A>C
c.994A>C (p.Lys332Gln)
c.1243A>C (p.Lys415Gln)
c.1057A>C (p.Lys353Gln)
c.895A>C (p.Lys299Gln)
c.1204A>C (p.Lys402Gln)
c.1039A>C (p.Lys347Gln)
c.1288A>C (p.Lys430Gln)
c.1102A>C (p.Lys368Gln)
n.1219A>C
13g.113118808A>GCA7060239F7c.1135A>G (p.Lys379Glu)
c.1201A>G (p.Lys401Glu)
c.949A>G (p.Lys317Glu)
n.1222A>G
c.994A>G (p.Lys332Glu)
c.1243A>G (p.Lys415Glu)
c.1057A>G (p.Lys353Glu)
c.895A>G (p.Lys299Glu)
c.1204A>G (p.Lys402Glu)
c.1039A>G (p.Lys347Glu)
c.1288A>G (p.Lys430Glu)
c.1102A>G (p.Lys368Glu)
n.1219A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118808A>TCA388786702F7c.1135A>T (p.Lys379Ter)
c.1201A>T (p.Lys401Ter)
c.949A>T (p.Lys317Ter)
n.1222A>T
c.994A>T (p.Lys332Ter)
c.1243A>T (p.Lys415Ter)
c.1057A>T (p.Lys353Ter)
c.895A>T (p.Lys299Ter)
c.1204A>T (p.Lys402Ter)
c.1039A>T (p.Lys347Ter)
c.1288A>T (p.Lys430Ter)
c.1102A>T (p.Lys368Ter)
n.1219A>T
13g.113118809dupCA2695218992F7c.1136dup (p.Asp381GlyfsTer?)
c.1202dup (p.Asp403GlyfsTer?)
c.950dup (p.Asp319GlyfsTer?)
n.1223dup
c.995dup (p.Asp334GlyfsTer?)
c.1244dup (p.Asp417GlyfsTer?)
c.1058dup (p.Asp355GlyfsTer?)
c.896dup (p.Asp301GlyfsTer?)
c.1205dup (p.Asp404GlyfsTer?)
c.1040dup (p.Asp349GlyfsTer?)
c.1289dup (p.Asp432GlyfsTer?)
c.1103dup (p.Asp370GlyfsTer?)
n.1220dup
13g.113118809A>CCA388786705F7c.1136A>C (p.Lys379Thr)
c.1202A>C (p.Lys401Thr)
c.950A>C (p.Lys317Thr)
n.1223A>C
c.995A>C (p.Lys332Thr)
c.1244A>C (p.Lys415Thr)
c.1058A>C (p.Lys353Thr)
c.896A>C (p.Lys299Thr)
c.1205A>C (p.Lys402Thr)
c.1040A>C (p.Lys347Thr)
c.1289A>C (p.Lys430Thr)
c.1103A>C (p.Lys368Thr)
n.1220A>C
13g.113118809A>GCA388786706F7c.1136A>G (p.Lys379Arg)
c.1202A>G (p.Lys401Arg)
c.950A>G (p.Lys317Arg)
n.1223A>G
c.995A>G (p.Lys332Arg)
c.1244A>G (p.Lys415Arg)
c.1058A>G (p.Lys353Arg)
c.896A>G (p.Lys299Arg)
c.1205A>G (p.Lys402Arg)
c.1040A>G (p.Lys347Arg)
c.1289A>G (p.Lys430Arg)
c.1103A>G (p.Lys368Arg)
n.1220A>G
13g.113118809A>TCA388786709F7c.1136A>T (p.Lys379Met)
c.1202A>T (p.Lys401Met)
c.950A>T (p.Lys317Met)
n.1223A>T
c.995A>T (p.Lys332Met)
c.1244A>T (p.Lys415Met)
c.1058A>T (p.Lys353Met)
c.896A>T (p.Lys299Met)
c.1205A>T (p.Lys402Met)
c.1040A>T (p.Lys347Met)
c.1289A>T (p.Lys430Met)
c.1103A>T (p.Lys368Met)
n.1220A>T
13g.113118812_113118824dupCA2739291817F7c.1139_1151dup (p.Pro385GlyfsTer?)
c.1205_1217dup (p.Pro407GlyfsTer?)
c.953_965dup (p.Pro323GlyfsTer?)
n.1226_1238dup
c.998_1010dup (p.Pro338GlyfsTer?)
c.1247_1259dup (p.Pro421GlyfsTer?)
c.1061_1073dup (p.Pro359GlyfsTer?)
c.899_911dup (p.Pro305GlyfsTer?)
c.1208_1220dup (p.Pro408GlyfsTer?)
c.1043_1055dup (p.Pro353GlyfsTer?)
c.1292_1304dup (p.Pro436GlyfsTer?)
c.1106_1118dup (p.Pro374GlyfsTer?)
n.1223_1235dup
13g.113118810G>ACA485021189F7c.1137G>A (p.Lys379=)
c.1203G>A (p.Lys401=)
c.951G>A (p.Lys317=)
n.1224G>A
c.996G>A (p.Lys332=)
c.1245G>A (p.Lys415=)
c.1059G>A (p.Lys353=)
c.897G>A (p.Lys299=)
c.1206G>A (p.Lys402=)
c.1041G>A (p.Lys347=)
c.1290G>A (p.Lys430=)
c.1104G>A (p.Lys368=)
n.1221G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113118810G>CCA388786710F7c.1137G>C (p.Lys379Asn)
c.1203G>C (p.Lys401Asn)
c.951G>C (p.Lys317Asn)
n.1224G>C
c.996G>C (p.Lys332Asn)
c.1245G>C (p.Lys415Asn)
c.1059G>C (p.Lys353Asn)
c.897G>C (p.Lys299Asn)
c.1206G>C (p.Lys402Asn)
c.1041G>C (p.Lys347Asn)
c.1290G>C (p.Lys430Asn)
c.1104G>C (p.Lys368Asn)
n.1221G>C
13g.113118810G=CA2120142716F7c.1137G= (p.Lys379=)
c.1203G= (p.Lys401=)
c.951G= (p.Lys317=)
n.1224G=
c.996G= (p.Lys332=)
c.1245G= (p.Lys415=)
c.1059G= (p.Lys353=)
c.897G= (p.Lys299=)
c.1206G= (p.Lys402=)
c.1041G= (p.Lys347=)
c.1290G= (p.Lys430=)
c.1104G= (p.Lys368=)
n.1221G=
13g.113118810G>TCA388786712F7c.1137G>T (p.Lys379Asn)
c.1203G>T (p.Lys401Asn)
c.951G>T (p.Lys317Asn)
n.1224G>T
c.996G>T (p.Lys332Asn)
c.1245G>T (p.Lys415Asn)
c.1059G>T (p.Lys353Asn)
c.897G>T (p.Lys299Asn)
c.1206G>T (p.Lys402Asn)
c.1041G>T (p.Lys347Asn)
c.1290G>T (p.Lys430Asn)
c.1104G>T (p.Lys368Asn)
n.1221G>T
13g.113118811G>ACA388786716F7c.1138G>A (p.Gly380Arg)
c.1204G>A (p.Gly402Arg)
c.952G>A (p.Gly318Arg)
n.1225G>A
c.997G>A (p.Gly333Arg)
c.1246G>A (p.Gly416Arg)
c.1060G>A (p.Gly354Arg)
c.898G>A (p.Gly300Arg)
c.1207G>A (p.Gly403Arg)
c.1042G>A (p.Gly348Arg)
c.1291G>A (p.Gly431Arg)
c.1105G>A (p.Gly369Arg)
n.1222G>A
 dbSNP
13g.113118811G>CCA388786718F7c.1138G>C (p.Gly380Arg)
c.1204G>C (p.Gly402Arg)
c.952G>C (p.Gly318Arg)
n.1225G>C
c.997G>C (p.Gly333Arg)
c.1246G>C (p.Gly416Arg)
c.1060G>C (p.Gly354Arg)
c.898G>C (p.Gly300Arg)
c.1207G>C (p.Gly403Arg)
c.1042G>C (p.Gly348Arg)
c.1291G>C (p.Gly431Arg)
c.1105G>C (p.Gly369Arg)
n.1222G>C
13g.113118811G>TCA388786714F7c.1138G>T (p.Gly380Trp)
c.1204G>T (p.Gly402Trp)
c.952G>T (p.Gly318Trp)
n.1225G>T
c.997G>T (p.Gly333Trp)
c.1246G>T (p.Gly416Trp)
c.1060G>T (p.Gly354Trp)
c.898G>T (p.Gly300Trp)
c.1207G>T (p.Gly403Trp)
c.1042G>T (p.Gly348Trp)
c.1291G>T (p.Gly431Trp)
c.1105G>T (p.Gly369Trp)
n.1222G>T
13g.113118812G>ACA388786720F7c.1139G>A (p.Gly380Glu)
c.1205G>A (p.Gly402Glu)
c.953G>A (p.Gly318Glu)
n.1226G>A
c.998G>A (p.Gly333Glu)
c.1247G>A (p.Gly416Glu)
c.1061G>A (p.Gly354Glu)
c.899G>A (p.Gly300Glu)
c.1208G>A (p.Gly403Glu)
c.1043G>A (p.Gly348Glu)
c.1292G>A (p.Gly431Glu)
c.1106G>A (p.Gly369Glu)
n.1223G>A
13g.113118812G>CCA388786721F7c.1139G>C (p.Gly380Ala)
c.1205G>C (p.Gly402Ala)
c.953G>C (p.Gly318Ala)
n.1226G>C
c.998G>C (p.Gly333Ala)
c.1247G>C (p.Gly416Ala)
c.1061G>C (p.Gly354Ala)
c.899G>C (p.Gly300Ala)
c.1208G>C (p.Gly403Ala)
c.1043G>C (p.Gly348Ala)
c.1292G>C (p.Gly431Ala)
c.1106G>C (p.Gly369Ala)
n.1223G>C
13g.113118812G>TCA388786723F7c.1139G>T (p.Gly380Val)
c.1205G>T (p.Gly402Val)
c.953G>T (p.Gly318Val)
n.1226G>T
c.998G>T (p.Gly333Val)
c.1247G>T (p.Gly416Val)
c.1061G>T (p.Gly354Val)
c.899G>T (p.Gly300Val)
c.1208G>T (p.Gly403Val)
c.1043G>T (p.Gly348Val)
c.1292G>T (p.Gly431Val)
c.1106G>T (p.Gly369Val)
n.1223G>T
13g.113118813G>ACA485021190F7c.1140G>A (p.Gly380=)
c.1206G>A (p.Gly402=)
c.954G>A (p.Gly318=)
n.1227G>A
c.999G>A (p.Gly333=)
c.1248G>A (p.Gly416=)
c.1062G>A (p.Gly354=)
c.900G>A (p.Gly300=)
c.1209G>A (p.Gly403=)
c.1044G>A (p.Gly348=)
c.1293G>A (p.Gly431=)
c.1107G>A (p.Gly369=)
n.1224G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
13g.113118813G>CCA485021191F7c.1140G>C (p.Gly380=)
c.1206G>C (p.Gly402=)
c.954G>C (p.Gly318=)
n.1227G>C
c.999G>C (p.Gly333=)
c.1248G>C (p.Gly416=)
c.1062G>C (p.Gly354=)
c.900G>C (p.Gly300=)
c.1209G>C (p.Gly403=)
c.1044G>C (p.Gly348=)
c.1293G>C (p.Gly431=)
c.1107G>C (p.Gly369=)
n.1224G>C
13g.113118813G=CA2120142718F7c.1140G= (p.Gly380=)
c.1206G= (p.Gly402=)
c.954G= (p.Gly318=)
n.1227G=
c.999G= (p.Gly333=)
c.1248G= (p.Gly416=)
c.1062G= (p.Gly354=)
c.900G= (p.Gly300=)
c.1209G= (p.Gly403=)
c.1044G= (p.Gly348=)
c.1293G= (p.Gly431=)
c.1107G= (p.Gly369=)
n.1224G=
13g.113118813G>TCA485021192F7c.1140G>T (p.Gly380=)
c.1206G>T (p.Gly402=)
c.954G>T (p.Gly318=)
n.1227G>T
c.999G>T (p.Gly333=)
c.1248G>T (p.Gly416=)
c.1062G>T (p.Gly354=)
c.900G>T (p.Gly300=)
c.1209G>T (p.Gly403=)
c.1044G>T (p.Gly348=)
c.1293G>T (p.Gly431=)
c.1107G>T (p.Gly369=)
n.1224G>T
13g.113118814G>ACA388786725F7c.1141G>A (p.Asp381Asn)
c.1207G>A (p.Asp403Asn)
c.955G>A (p.Asp319Asn)
n.1228G>A
c.1000G>A (p.Asp334Asn)
c.1249G>A (p.Asp417Asn)
c.1063G>A (p.Asp355Asn)
c.901G>A (p.Asp301Asn)
c.1210G>A (p.Asp404Asn)
c.1045G>A (p.Asp349Asn)
c.1294G>A (p.Asp432Asn)
c.1108G>A (p.Asp370Asn)
n.1225G>A
 dbSNP gnomAD v4
13g.113118814G>CCA388786727F7c.1141G>C (p.Asp381His)
c.1207G>C (p.Asp403His)
c.955G>C (p.Asp319His)
n.1228G>C
c.1000G>C (p.Asp334His)
c.1249G>C (p.Asp417His)
c.1063G>C (p.Asp355His)
c.901G>C (p.Asp301His)
c.1210G>C (p.Asp404His)
c.1045G>C (p.Asp349His)
c.1294G>C (p.Asp432His)
c.1108G>C (p.Asp370His)
n.1225G>C
13g.113118814G=CA2120142720F7c.1141G= (p.Asp381=)
c.1207G= (p.Asp403=)
c.955G= (p.Asp319=)
n.1228G=
c.1000G= (p.Asp334=)
c.1249G= (p.Asp417=)
c.1063G= (p.Asp355=)
c.901G= (p.Asp301=)
c.1210G= (p.Asp404=)
c.1045G= (p.Asp349=)
c.1294G= (p.Asp432=)
c.1108G= (p.Asp370=)
n.1225G=
13g.113118814G>TCA256461823F7c.1141G>T (p.Asp381Tyr)
c.1207G>T (p.Asp403Tyr)
c.955G>T (p.Asp319Tyr)
n.1228G>T
c.1000G>T (p.Asp334Tyr)
c.1249G>T (p.Asp417Tyr)
c.1063G>T (p.Asp355Tyr)
c.901G>T (p.Asp301Tyr)
c.1210G>T (p.Asp404Tyr)
c.1045G>T (p.Asp349Tyr)
c.1294G>T (p.Asp432Tyr)
c.1108G>T (p.Asp370Tyr)
n.1225G>T
 ClinVar dbSNP gnomAD v2
13g.113118815A>CCA388786734F7c.1142A>C (p.Asp381Ala)
c.1208A>C (p.Asp403Ala)
c.956A>C (p.Asp319Ala)
n.1229A>C
c.1001A>C (p.Asp334Ala)
c.1250A>C (p.Asp417Ala)
c.1064A>C (p.Asp355Ala)
c.902A>C (p.Asp301Ala)
c.1211A>C (p.Asp404Ala)
c.1046A>C (p.Asp349Ala)
c.1295A>C (p.Asp432Ala)
c.1109A>C (p.Asp370Ala)
n.1226A>C
13g.113118815A>GCA388786730F7c.1142A>G (p.Asp381Gly)
c.1208A>G (p.Asp403Gly)
c.956A>G (p.Asp319Gly)
n.1229A>G
c.1001A>G (p.Asp334Gly)
c.1250A>G (p.Asp417Gly)
c.1064A>G (p.Asp355Gly)
c.902A>G (p.Asp301Gly)
c.1211A>G (p.Asp404Gly)
c.1046A>G (p.Asp349Gly)
c.1295A>G (p.Asp432Gly)
c.1109A>G (p.Asp370Gly)
n.1226A>G
13g.113118815A>TCA388786732F7c.1142A>T (p.Asp381Val)
c.1208A>T (p.Asp403Val)
c.956A>T (p.Asp319Val)
n.1229A>T
c.1001A>T (p.Asp334Val)
c.1250A>T (p.Asp417Val)
c.1064A>T (p.Asp355Val)
c.902A>T (p.Asp301Val)
c.1211A>T (p.Asp404Val)
c.1046A>T (p.Asp349Val)
c.1295A>T (p.Asp432Val)
c.1109A>T (p.Asp370Val)
n.1226A>T
13g.113118816C>ACA388786736F7c.1143C>A (p.Asp381Glu)
c.1209C>A (p.Asp403Glu)
c.957C>A (p.Asp319Glu)
n.1230C>A
c.1002C>A (p.Asp334Glu)
c.1251C>A (p.Asp417Glu)
c.1065C>A (p.Asp355Glu)
c.903C>A (p.Asp301Glu)
c.1212C>A (p.Asp404Glu)
c.1047C>A (p.Asp349Glu)
c.1296C>A (p.Asp432Glu)
c.1110C>A (p.Asp370Glu)
n.1227C>A
13g.113118816C>GCA388786738F7c.1143C>G (p.Asp381Glu)
c.1209C>G (p.Asp403Glu)
c.957C>G (p.Asp319Glu)
n.1230C>G
c.1002C>G (p.Asp334Glu)
c.1251C>G (p.Asp417Glu)
c.1065C>G (p.Asp355Glu)
c.903C>G (p.Asp301Glu)
c.1212C>G (p.Asp404Glu)
c.1047C>G (p.Asp349Glu)
c.1296C>G (p.Asp432Glu)
c.1110C>G (p.Asp370Glu)
n.1227C>G
13g.113118816C>TCA485021193F7c.1143C>T (p.Asp381=)
c.1209C>T (p.Asp403=)
c.957C>T (p.Asp319=)
n.1230C>T
c.1002C>T (p.Asp334=)
c.1251C>T (p.Asp417=)
c.1065C>T (p.Asp355=)
c.903C>T (p.Asp301=)
c.1212C>T (p.Asp404=)
c.1047C>T (p.Asp349=)
c.1296C>T (p.Asp432=)
c.1110C>T (p.Asp370=)
n.1227C>T
13g.113118817A>CCA388786740F7c.1144A>C (p.Ser382Arg)
c.1210A>C (p.Ser404Arg)
c.958A>C (p.Ser320Arg)
n.1231A>C
c.1003A>C (p.Ser335Arg)
c.1252A>C (p.Ser418Arg)
c.1066A>C (p.Ser356Arg)
c.904A>C (p.Ser302Arg)
c.1213A>C (p.Ser405Arg)
c.1048A>C (p.Ser350Arg)
c.1297A>C (p.Ser433Arg)
c.1111A>C (p.Ser371Arg)
n.1228A>C
13g.113118817A>GCA388786743F7c.1144A>G (p.Ser382Gly)
c.1210A>G (p.Ser404Gly)
c.958A>G (p.Ser320Gly)
n.1231A>G
c.1003A>G (p.Ser335Gly)
c.1252A>G (p.Ser418Gly)
c.1066A>G (p.Ser356Gly)
c.904A>G (p.Ser302Gly)
c.1213A>G (p.Ser405Gly)
c.1048A>G (p.Ser350Gly)
c.1297A>G (p.Ser433Gly)
c.1111A>G (p.Ser371Gly)
n.1228A>G
13g.113118817A>TCA388786745F7c.1144A>T (p.Ser382Cys)
c.1210A>T (p.Ser404Cys)
c.958A>T (p.Ser320Cys)
n.1231A>T
c.1003A>T (p.Ser335Cys)
c.1252A>T (p.Ser418Cys)
c.1066A>T (p.Ser356Cys)
c.904A>T (p.Ser302Cys)
c.1213A>T (p.Ser405Cys)
c.1048A>T (p.Ser350Cys)
c.1297A>T (p.Ser433Cys)
c.1111A>T (p.Ser371Cys)
n.1228A>T
13g.113118818G>ACA388786747F7c.1145G>A (p.Ser382Asn)
c.1211G>A (p.Ser404Asn)
c.959G>A (p.Ser320Asn)
n.1232G>A
c.1004G>A (p.Ser335Asn)
c.1253G>A (p.Ser418Asn)
c.1067G>A (p.Ser356Asn)
c.905G>A (p.Ser302Asn)
c.1214G>A (p.Ser405Asn)
c.1049G>A (p.Ser350Asn)
c.1298G>A (p.Ser433Asn)
c.1112G>A (p.Ser371Asn)
n.1229G>A
 ClinVar gnomAD v4
13g.113118818G>CCA388786751F7c.1145G>C (p.Ser382Thr)
c.1211G>C (p.Ser404Thr)
c.959G>C (p.Ser320Thr)
n.1232G>C
c.1004G>C (p.Ser335Thr)
c.1253G>C (p.Ser418Thr)
c.1067G>C (p.Ser356Thr)
c.905G>C (p.Ser302Thr)
c.1214G>C (p.Ser405Thr)
c.1049G>C (p.Ser350Thr)
c.1298G>C (p.Ser433Thr)
c.1112G>C (p.Ser371Thr)
n.1229G>C
13g.113118818G>TCA388786749F7c.1145G>T (p.Ser382Ile)
c.1211G>T (p.Ser404Ile)
c.959G>T (p.Ser320Ile)
n.1232G>T
c.1004G>T (p.Ser335Ile)
c.1253G>T (p.Ser418Ile)
c.1067G>T (p.Ser356Ile)
c.905G>T (p.Ser302Ile)
c.1214G>T (p.Ser405Ile)
c.1049G>T (p.Ser350Ile)
c.1298G>T (p.Ser433Ile)
c.1112G>T (p.Ser371Ile)
n.1229G>T
 dbSNP
13g.113118819T>ACA388786753F7c.1146T>A (p.Ser382Arg)
c.1212T>A (p.Ser404Arg)
c.960T>A (p.Ser320Arg)
n.1233T>A
c.1005T>A (p.Ser335Arg)
c.1254T>A (p.Ser418Arg)
c.1068T>A (p.Ser356Arg)
c.906T>A (p.Ser302Arg)
c.1215T>A (p.Ser405Arg)
c.1050T>A (p.Ser350Arg)
c.1299T>A (p.Ser433Arg)
c.1113T>A (p.Ser371Arg)
n.1230T>A
13g.113118819T>CCA485021194F7c.1146T>C (p.Ser382=)
c.1212T>C (p.Ser404=)
c.960T>C (p.Ser320=)
n.1233T>C
c.1005T>C (p.Ser335=)
c.1254T>C (p.Ser418=)
c.1068T>C (p.Ser356=)
c.906T>C (p.Ser302=)
c.1215T>C (p.Ser405=)
c.1050T>C (p.Ser350=)
c.1299T>C (p.Ser433=)
c.1113T>C (p.Ser371=)
n.1230T>C
 dbSNP gnomAD v4
13g.113118819T>GCA388786755F7c.1146T>G (p.Ser382Arg)
c.1212T>G (p.Ser404Arg)
c.960T>G (p.Ser320Arg)
n.1233T>G
c.1005T>G (p.Ser335Arg)
c.1254T>G (p.Ser418Arg)
c.1068T>G (p.Ser356Arg)
c.906T>G (p.Ser302Arg)
c.1215T>G (p.Ser405Arg)
c.1050T>G (p.Ser350Arg)
c.1299T>G (p.Ser433Arg)
c.1113T>G (p.Ser371Arg)
n.1230T>G
13g.113118819T=CA2120142723F7c.1146T= (p.Ser382=)
c.1212T= (p.Ser404=)
c.960T= (p.Ser320=)
n.1233T=
c.1005T= (p.Ser335=)
c.1254T= (p.Ser418=)
c.1068T= (p.Ser356=)
c.906T= (p.Ser302=)
c.1215T= (p.Ser405=)
c.1050T= (p.Ser350=)
c.1299T= (p.Ser433=)
c.1113T= (p.Ser371=)
n.1230T=
13g.113118820G>ACA388786758F7c.1147G>A (p.Gly383Arg)
c.1213G>A (p.Gly405Arg)
c.961G>A (p.Gly321Arg)
n.1234G>A
c.1006G>A (p.Gly336Arg)
c.1255G>A (p.Gly419Arg)
c.1069G>A (p.Gly357Arg)
c.907G>A (p.Gly303Arg)
c.1216G>A (p.Gly406Arg)
c.1051G>A (p.Gly351Arg)
c.1300G>A (p.Gly434Arg)
c.1114G>A (p.Gly372Arg)
n.1231G>A
13g.113118820G>CCA388786760F7c.1147G>C (p.Gly383Arg)
c.1213G>C (p.Gly405Arg)
c.961G>C (p.Gly321Arg)
n.1234G>C
c.1006G>C (p.Gly336Arg)
c.1255G>C (p.Gly419Arg)
c.1069G>C (p.Gly357Arg)
c.907G>C (p.Gly303Arg)
c.1216G>C (p.Gly406Arg)
c.1051G>C (p.Gly351Arg)
c.1300G>C (p.Gly434Arg)
c.1114G>C (p.Gly372Arg)
n.1231G>C
13g.113118820G>TCA388786762F7c.1147G>T (p.Gly383Ter)
c.1213G>T (p.Gly405Ter)
c.961G>T (p.Gly321Ter)
n.1234G>T
c.1006G>T (p.Gly336Ter)
c.1255G>T (p.Gly419Ter)
c.1069G>T (p.Gly357Ter)
c.907G>T (p.Gly303Ter)
c.1216G>T (p.Gly406Ter)
c.1051G>T (p.Gly351Ter)
c.1300G>T (p.Gly434Ter)
c.1114G>T (p.Gly372Ter)
n.1231G>T
13g.113118822_113118824delCA2800652059F7c.1149_1151del (p.Gly384del)
c.1215_1217del (p.Gly406del)
c.963_965del (p.Gly322del)
n.1236_1238del
c.1008_1010del (p.Gly337del)
c.1257_1259del (p.Gly420del)
c.1071_1073del (p.Gly358del)
c.909_911del (p.Gly304del)
c.1218_1220del (p.Gly407del)
c.1053_1055del (p.Gly352del)
c.1302_1304del (p.Gly435del)
c.1116_1118del (p.Gly373del)
n.1233_1235del
13g.113118821G>ACA388786764F7c.1148G>A (p.Gly383Glu)
c.1214G>A (p.Gly405Glu)
c.962G>A (p.Gly321Glu)
n.1235G>A
c.1007G>A (p.Gly336Glu)
c.1256G>A (p.Gly419Glu)
c.1070G>A (p.Gly357Glu)
c.908G>A (p.Gly303Glu)
c.1217G>A (p.Gly406Glu)
c.1052G>A (p.Gly351Glu)
c.1301G>A (p.Gly434Glu)
c.1115G>A (p.Gly372Glu)
n.1232G>A
13g.113118821G>CCA388786766F7c.1148G>C (p.Gly383Ala)
c.1214G>C (p.Gly405Ala)
c.962G>C (p.Gly321Ala)
n.1235G>C
c.1007G>C (p.Gly336Ala)
c.1256G>C (p.Gly419Ala)
c.1070G>C (p.Gly357Ala)
c.908G>C (p.Gly303Ala)
c.1217G>C (p.Gly406Ala)
c.1052G>C (p.Gly351Ala)
c.1301G>C (p.Gly434Ala)
c.1115G>C (p.Gly372Ala)
n.1232G>C
13g.113118821G>TCA388786768F7c.1148G>T (p.Gly383Val)
c.1214G>T (p.Gly405Val)
c.962G>T (p.Gly321Val)
n.1235G>T
c.1007G>T (p.Gly336Val)
c.1256G>T (p.Gly419Val)
c.1070G>T (p.Gly357Val)
c.908G>T (p.Gly303Val)
c.1217G>T (p.Gly406Val)
c.1052G>T (p.Gly351Val)
c.1301G>T (p.Gly434Val)
c.1115G>T (p.Gly372Val)
n.1232G>T
13g.113118822A>CCA485021195F7c.1149A>C (p.Gly383=)
c.1215A>C (p.Gly405=)
c.963A>C (p.Gly321=)
n.1236A>C
c.1008A>C (p.Gly336=)
c.1257A>C (p.Gly419=)
c.1071A>C (p.Gly357=)
c.909A>C (p.Gly303=)
c.1218A>C (p.Gly406=)
c.1053A>C (p.Gly351=)
c.1302A>C (p.Gly434=)
c.1116A>C (p.Gly372=)
n.1233A>C
13g.113118822A>GCA485021196F7c.1149A>G (p.Gly383=)
c.1215A>G (p.Gly405=)
c.963A>G (p.Gly321=)
n.1236A>G
c.1008A>G (p.Gly336=)
c.1257A>G (p.Gly419=)
c.1071A>G (p.Gly357=)
c.909A>G (p.Gly303=)
c.1218A>G (p.Gly406=)
c.1053A>G (p.Gly351=)
c.1302A>G (p.Gly434=)
c.1116A>G (p.Gly372=)
n.1233A>G
13g.113118822A>TCA485021197F7c.1149A>T (p.Gly383=)
c.1215A>T (p.Gly405=)
c.963A>T (p.Gly321=)
n.1236A>T
c.1008A>T (p.Gly336=)
c.1257A>T (p.Gly419=)
c.1071A>T (p.Gly357=)
c.909A>T (p.Gly303=)
c.1218A>T (p.Gly406=)
c.1053A>T (p.Gly351=)
c.1302A>T (p.Gly434=)
c.1116A>T (p.Gly372=)
n.1233A>T
13g.113118823G>ACA388786769F7c.1150G>A (p.Gly384Ser)
c.1216G>A (p.Gly406Ser)
c.964G>A (p.Gly322Ser)
n.1237G>A
c.1009G>A (p.Gly337Ser)
c.1258G>A (p.Gly420Ser)
c.1072G>A (p.Gly358Ser)
c.910G>A (p.Gly304Ser)
c.1219G>A (p.Gly407Ser)
c.1054G>A (p.Gly352Ser)
c.1303G>A (p.Gly435Ser)
c.1117G>A (p.Gly373Ser)
n.1234G>A
13g.113118823G>CCA388786771F7c.1150G>C (p.Gly384Arg)
c.1216G>C (p.Gly406Arg)
c.964G>C (p.Gly322Arg)
n.1237G>C
c.1009G>C (p.Gly337Arg)
c.1258G>C (p.Gly420Arg)
c.1072G>C (p.Gly358Arg)
c.910G>C (p.Gly304Arg)
c.1219G>C (p.Gly407Arg)
c.1054G>C (p.Gly352Arg)
c.1303G>C (p.Gly435Arg)
c.1117G>C (p.Gly373Arg)
n.1234G>C
13g.113118823G>TCA388786773F7c.1150G>T (p.Gly384Cys)
c.1216G>T (p.Gly406Cys)
c.964G>T (p.Gly322Cys)
n.1237G>T
c.1009G>T (p.Gly337Cys)
c.1258G>T (p.Gly420Cys)
c.1072G>T (p.Gly358Cys)
c.910G>T (p.Gly304Cys)
c.1219G>T (p.Gly407Cys)
c.1054G>T (p.Gly352Cys)
c.1303G>T (p.Gly435Cys)
c.1117G>T (p.Gly373Cys)
n.1234G>T
13g.113118824G>ACA7060240F7c.1151G>A (p.Gly384Asp)
c.1217G>A (p.Gly406Asp)
c.965G>A (p.Gly322Asp)
n.1238G>A
c.1010G>A (p.Gly337Asp)
c.1259G>A (p.Gly420Asp)
c.1073G>A (p.Gly358Asp)
c.911G>A (p.Gly304Asp)
c.1220G>A (p.Gly407Asp)
c.1055G>A (p.Gly352Asp)
c.1304G>A (p.Gly435Asp)
c.1118G>A (p.Gly373Asp)
n.1235G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118824G>CCA388786777F7c.1151G>C (p.Gly384Ala)
c.1217G>C (p.Gly406Ala)
c.965G>C (p.Gly322Ala)
n.1238G>C
c.1010G>C (p.Gly337Ala)
c.1259G>C (p.Gly420Ala)
c.1073G>C (p.Gly358Ala)
c.911G>C (p.Gly304Ala)
c.1220G>C (p.Gly407Ala)
c.1055G>C (p.Gly352Ala)
c.1304G>C (p.Gly435Ala)
c.1118G>C (p.Gly373Ala)
n.1235G>C
13g.113118824G=CA2120142727F7c.1151G= (p.Gly384=)
c.1217G= (p.Gly406=)
c.965G= (p.Gly322=)
n.1238G=
c.1010G= (p.Gly337=)
c.1259G= (p.Gly420=)
c.1073G= (p.Gly358=)
c.911G= (p.Gly304=)
c.1220G= (p.Gly407=)
c.1055G= (p.Gly352=)
c.1304G= (p.Gly435=)
c.1118G= (p.Gly373=)
n.1235G=
13g.113118824G>TCA388786775F7c.1151G>T (p.Gly384Val)
c.1217G>T (p.Gly406Val)
c.965G>T (p.Gly322Val)
n.1238G>T
c.1010G>T (p.Gly337Val)
c.1259G>T (p.Gly420Val)
c.1073G>T (p.Gly358Val)
c.911G>T (p.Gly304Val)
c.1220G>T (p.Gly407Val)
c.1055G>T (p.Gly352Val)
c.1304G>T (p.Gly435Val)
c.1118G>T (p.Gly373Val)
n.1235G>T
13g.113118825C>ACA485021198F7c.1152C>A (p.Gly384=)
c.1218C>A (p.Gly406=)
c.966C>A (p.Gly322=)
n.1239C>A
c.1011C>A (p.Gly337=)
c.1260C>A (p.Gly420=)
c.1074C>A (p.Gly358=)
c.912C>A (p.Gly304=)
c.1221C>A (p.Gly407=)
c.1056C>A (p.Gly352=)
c.1305C>A (p.Gly435=)
c.1119C>A (p.Gly373=)
n.1236C>A
13g.113118825C>GCA485021199F7c.1152C>G (p.Gly384=)
c.1218C>G (p.Gly406=)
c.966C>G (p.Gly322=)
n.1239C>G
c.1011C>G (p.Gly337=)
c.1260C>G (p.Gly420=)
c.1074C>G (p.Gly358=)
c.912C>G (p.Gly304=)
c.1221C>G (p.Gly407=)
c.1056C>G (p.Gly352=)
c.1305C>G (p.Gly435=)
c.1119C>G (p.Gly373=)
n.1236C>G
13g.113118825C>TCA485021200F7c.1152C>T (p.Gly384=)
c.1218C>T (p.Gly406=)
c.966C>T (p.Gly322=)
n.1239C>T
c.1011C>T (p.Gly337=)
c.1260C>T (p.Gly420=)
c.1074C>T (p.Gly358=)
c.912C>T (p.Gly304=)
c.1221C>T (p.Gly407=)
c.1056C>T (p.Gly352=)
c.1305C>T (p.Gly435=)
c.1119C>T (p.Gly373=)
n.1236C>T
13g.113118826C>ACA388786779F7c.1153C>A (p.Pro385Thr)
c.1219C>A (p.Pro407Thr)
c.967C>A (p.Pro323Thr)
n.1240C>A
c.1012C>A (p.Pro338Thr)
c.1261C>A (p.Pro421Thr)
c.1075C>A (p.Pro359Thr)
c.913C>A (p.Pro305Thr)
c.1222C>A (p.Pro408Thr)
c.1057C>A (p.Pro353Thr)
c.1306C>A (p.Pro436Thr)
c.1120C>A (p.Pro374Thr)
n.1237C>A
13g.113118826C>GCA388786783F7c.1153C>G (p.Pro385Ala)
c.1219C>G (p.Pro407Ala)
c.967C>G (p.Pro323Ala)
n.1240C>G
c.1012C>G (p.Pro338Ala)
c.1261C>G (p.Pro421Ala)
c.1075C>G (p.Pro359Ala)
c.913C>G (p.Pro305Ala)
c.1222C>G (p.Pro408Ala)
c.1057C>G (p.Pro353Ala)
c.1306C>G (p.Pro436Ala)
c.1120C>G (p.Pro374Ala)
n.1237C>G
13g.113118826C>TCA388786781F7c.1153C>T (p.Pro385Ser)
c.1219C>T (p.Pro407Ser)
c.967C>T (p.Pro323Ser)
n.1240C>T
c.1012C>T (p.Pro338Ser)
c.1261C>T (p.Pro421Ser)
c.1075C>T (p.Pro359Ser)
c.913C>T (p.Pro305Ser)
c.1222C>T (p.Pro408Ser)
c.1057C>T (p.Pro353Ser)
c.1306C>T (p.Pro436Ser)
c.1120C>T (p.Pro374Ser)
n.1237C>T
13g.113118827C>ACA388786785F7c.1154C>A (p.Pro385Gln)
c.1220C>A (p.Pro407Gln)
c.968C>A (p.Pro323Gln)
n.1241C>A
c.1013C>A (p.Pro338Gln)
c.1262C>A (p.Pro421Gln)
c.1076C>A (p.Pro359Gln)
c.914C>A (p.Pro305Gln)
c.1223C>A (p.Pro408Gln)
c.1058C>A (p.Pro353Gln)
c.1307C>A (p.Pro436Gln)
c.1121C>A (p.Pro374Gln)
n.1238C>A
 dbSNP gnomAD v3 gnomAD v4
13g.113118827C=CA2120142731F7c.1154C= (p.Pro385=)
c.1220C= (p.Pro407=)
c.968C= (p.Pro323=)
n.1241C=
c.1013C= (p.Pro338=)
c.1262C= (p.Pro421=)
c.1076C= (p.Pro359=)
c.914C= (p.Pro305=)
c.1223C= (p.Pro408=)
c.1058C= (p.Pro353=)
c.1307C= (p.Pro436=)
c.1121C= (p.Pro374=)
n.1238C=
13g.113118827C>GCA388786787F7c.1154C>G (p.Pro385Arg)
c.1220C>G (p.Pro407Arg)
c.968C>G (p.Pro323Arg)
n.1241C>G
c.1013C>G (p.Pro338Arg)
c.1262C>G (p.Pro421Arg)
c.1076C>G (p.Pro359Arg)
c.914C>G (p.Pro305Arg)
c.1223C>G (p.Pro408Arg)
c.1058C>G (p.Pro353Arg)
c.1307C>G (p.Pro436Arg)
c.1121C>G (p.Pro374Arg)
n.1238C>G
13g.113118827C>TCA388786789F7c.1154C>T (p.Pro385Leu)
c.1220C>T (p.Pro407Leu)
c.968C>T (p.Pro323Leu)
n.1241C>T
c.1013C>T (p.Pro338Leu)
c.1262C>T (p.Pro421Leu)
c.1076C>T (p.Pro359Leu)
c.914C>T (p.Pro305Leu)
c.1223C>T (p.Pro408Leu)
c.1058C>T (p.Pro353Leu)
c.1307C>T (p.Pro436Leu)
c.1121C>T (p.Pro374Leu)
n.1238C>T
13g.113118828A=CA2120142734F7c.1155A= (p.Pro385=)
c.1221A= (p.Pro407=)
c.969A= (p.Pro323=)
n.1242A=
c.1014A= (p.Pro338=)
c.1263A= (p.Pro421=)
c.1077A= (p.Pro359=)
c.915A= (p.Pro305=)
c.1224A= (p.Pro408=)
c.1059A= (p.Pro353=)
c.1308A= (p.Pro436=)
c.1122A= (p.Pro374=)
n.1239A=
13g.113118828A>CCA485021201F7c.1155A>C (p.Pro385=)
c.1221A>C (p.Pro407=)
c.969A>C (p.Pro323=)
n.1242A>C
c.1014A>C (p.Pro338=)
c.1263A>C (p.Pro421=)
c.1077A>C (p.Pro359=)
c.915A>C (p.Pro305=)
c.1224A>C (p.Pro408=)
c.1059A>C (p.Pro353=)
c.1308A>C (p.Pro436=)
c.1122A>C (p.Pro374=)
n.1239A>C
 dbSNP gnomAD v2
13g.113118828A>GCA485021203F7c.1155A>G (p.Pro385=)
c.1221A>G (p.Pro407=)
c.969A>G (p.Pro323=)
n.1242A>G
c.1014A>G (p.Pro338=)
c.1263A>G (p.Pro421=)
c.1077A>G (p.Pro359=)
c.915A>G (p.Pro305=)
c.1224A>G (p.Pro408=)
c.1059A>G (p.Pro353=)
c.1308A>G (p.Pro436=)
c.1122A>G (p.Pro374=)
n.1239A>G
13g.113118828A>TCA485021202F7c.1155A>T (p.Pro385=)
c.1221A>T (p.Pro407=)
c.969A>T (p.Pro323=)
n.1242A>T
c.1014A>T (p.Pro338=)
c.1263A>T (p.Pro421=)
c.1077A>T (p.Pro359=)
c.915A>T (p.Pro305=)
c.1224A>T (p.Pro408=)
c.1059A>T (p.Pro353=)
c.1308A>T (p.Pro436=)
c.1122A>T (p.Pro374=)
n.1239A>T
13g.113118829C>ACA388786790F7c.1156C>A (p.His386Asn)
c.1222C>A (p.His408Asn)
c.970C>A (p.His324Asn)
n.1243C>A
c.1015C>A (p.His339Asn)
c.1264C>A (p.His422Asn)
c.1078C>A (p.His360Asn)
c.916C>A (p.His306Asn)
c.1225C>A (p.His409Asn)
c.1060C>A (p.His354Asn)
c.1309C>A (p.His437Asn)
c.1123C>A (p.His375Asn)
n.1240C>A
13g.113118829C>GCA388786792F7c.1156C>G (p.His386Asp)
c.1222C>G (p.His408Asp)
c.970C>G (p.His324Asp)
n.1243C>G
c.1015C>G (p.His339Asp)
c.1264C>G (p.His422Asp)
c.1078C>G (p.His360Asp)
c.916C>G (p.His306Asp)
c.1225C>G (p.His409Asp)
c.1060C>G (p.His354Asp)
c.1309C>G (p.His437Asp)
c.1123C>G (p.His375Asp)
n.1240C>G
13g.113118829C>TCA388786794F7c.1156C>T (p.His386Tyr)
c.1222C>T (p.His408Tyr)
c.970C>T (p.His324Tyr)
n.1243C>T
c.1015C>T (p.His339Tyr)
c.1264C>T (p.His422Tyr)
c.1078C>T (p.His360Tyr)
c.916C>T (p.His306Tyr)
c.1225C>T (p.His409Tyr)
c.1060C>T (p.His354Tyr)
c.1309C>T (p.His437Tyr)
c.1123C>T (p.His375Tyr)
n.1240C>T
 gnomAD v4 COSMIC
13g.113118830A=CA2120142742F7c.1157A= (p.His386=)
c.1223A= (p.His408=)
c.971A= (p.His324=)
n.1244A=
c.1016A= (p.His339=)
c.1265A= (p.His422=)
c.1079A= (p.His360=)
c.917A= (p.His306=)
c.1226A= (p.His409=)
c.1061A= (p.His354=)
c.1310A= (p.His437=)
c.1124A= (p.His375=)
n.1241A=
13g.113118830A>CCA388786796F7c.1157A>C (p.His386Pro)
c.1223A>C (p.His408Pro)
c.971A>C (p.His324Pro)
n.1244A>C
c.1016A>C (p.His339Pro)
c.1265A>C (p.His422Pro)
c.1079A>C (p.His360Pro)
c.917A>C (p.His306Pro)
c.1226A>C (p.His409Pro)
c.1061A>C (p.His354Pro)
c.1310A>C (p.His437Pro)
c.1124A>C (p.His375Pro)
n.1241A>C
13g.113118830A>GCA388786799F7c.1157A>G (p.His386Arg)
c.1223A>G (p.His408Arg)
c.971A>G (p.His324Arg)
n.1244A>G
c.1016A>G (p.His339Arg)
c.1265A>G (p.His422Arg)
c.1079A>G (p.His360Arg)
c.917A>G (p.His306Arg)
c.1226A>G (p.His409Arg)
c.1061A>G (p.His354Arg)
c.1310A>G (p.His437Arg)
c.1124A>G (p.His375Arg)
n.1241A>G
 dbSNP gnomAD v4
13g.113118830A>TCA388786801F7c.1157A>T (p.His386Leu)
c.1223A>T (p.His408Leu)
c.971A>T (p.His324Leu)
n.1244A>T
c.1016A>T (p.His339Leu)
c.1265A>T (p.His422Leu)
c.1079A>T (p.His360Leu)
c.917A>T (p.His306Leu)
c.1226A>T (p.His409Leu)
c.1061A>T (p.His354Leu)
c.1310A>T (p.His437Leu)
c.1124A>T (p.His375Leu)
n.1241A>T
13g.113118830_113118831delCA2623809295F7c.1157_1158del (p.His386ArgfsTer?)
c.1223_1224del (p.His408ArgfsTer?)
c.971_972del (p.His324ArgfsTer?)
n.1244_1245del
c.1016_1017del (p.His339ArgfsTer?)
c.1265_1266del (p.His422ArgfsTer?)
c.1079_1080del (p.His360ArgfsTer?)
c.917_918del (p.His306ArgfsTer?)
c.1226_1227del (p.His409ArgfsTer?)
c.1061_1062del (p.His354ArgfsTer?)
c.1310_1311del (p.His437ArgfsTer?)
c.1124_1125del (p.His375ArgfsTer?)
n.1241_1242del
 gnomAD v4
13g.113118831T>ACA388786802F7c.1158T>A (p.His386Gln)
c.1224T>A (p.His408Gln)
c.972T>A (p.His324Gln)
n.1245T>A
c.1017T>A (p.His339Gln)
c.1266T>A (p.His422Gln)
c.1080T>A (p.His360Gln)
c.918T>A (p.His306Gln)
c.1227T>A (p.His409Gln)
c.1062T>A (p.His354Gln)
c.1311T>A (p.His437Gln)
c.1125T>A (p.His375Gln)
n.1242T>A
 gnomAD v4
13g.113118831T>CCA485021204F7c.1158T>C (p.His386=)
c.1224T>C (p.His408=)
c.972T>C (p.His324=)
n.1245T>C
c.1017T>C (p.His339=)
c.1266T>C (p.His422=)
c.1080T>C (p.His360=)
c.918T>C (p.His306=)
c.1227T>C (p.His409=)
c.1062T>C (p.His354=)
c.1311T>C (p.His437=)
c.1125T>C (p.His375=)
n.1242T>C
13g.113118831T>GCA121870F7c.1158T>G (p.His386Gln)
c.1224T>G (p.His408Gln)
c.972T>G (p.His324Gln)
n.1245T>G
c.1017T>G (p.His339Gln)
c.1266T>G (p.His422Gln)
c.1080T>G (p.His360Gln)
c.918T>G (p.His306Gln)
c.1227T>G (p.His409Gln)
c.1062T>G (p.His354Gln)
c.1311T>G (p.His437Gln)
c.1125T>G (p.His375Gln)
n.1242T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118831T=CA2120142748F7c.1158T= (p.His386=)
c.1224T= (p.His408=)
c.972T= (p.His324=)
n.1245T=
c.1017T= (p.His339=)
c.1266T= (p.His422=)
c.1080T= (p.His360=)
c.918T= (p.His306=)
c.1227T= (p.His409=)
c.1062T= (p.His354=)
c.1311T= (p.His437=)
c.1125T= (p.His375=)
n.1242T=
13g.113118832G>ACA388786809F7c.1159G>A (p.Ala387Thr)
c.1225G>A (p.Ala409Thr)
c.973G>A (p.Ala325Thr)
n.1246G>A
c.1018G>A (p.Ala340Thr)
c.1267G>A (p.Ala423Thr)
c.1081G>A (p.Ala361Thr)
c.919G>A (p.Ala307Thr)
c.1228G>A (p.Ala410Thr)
c.1063G>A (p.Ala355Thr)
c.1312G>A (p.Ala438Thr)
c.1126G>A (p.Ala376Thr)
n.1243G>A
13g.113118832G>CCA388786807F7c.1159G>C (p.Ala387Pro)
c.1225G>C (p.Ala409Pro)
c.973G>C (p.Ala325Pro)
n.1246G>C
c.1018G>C (p.Ala340Pro)
c.1267G>C (p.Ala423Pro)
c.1081G>C (p.Ala361Pro)
c.919G>C (p.Ala307Pro)
c.1228G>C (p.Ala410Pro)
c.1063G>C (p.Ala355Pro)
c.1312G>C (p.Ala438Pro)
c.1126G>C (p.Ala376Pro)
n.1243G>C
13g.113118832G>TCA388786805F7c.1159G>T (p.Ala387Ser)
c.1225G>T (p.Ala409Ser)
c.973G>T (p.Ala325Ser)
n.1246G>T
c.1018G>T (p.Ala340Ser)
c.1267G>T (p.Ala423Ser)
c.1081G>T (p.Ala361Ser)
c.919G>T (p.Ala307Ser)
c.1228G>T (p.Ala410Ser)
c.1063G>T (p.Ala355Ser)
c.1312G>T (p.Ala438Ser)
c.1126G>T (p.Ala376Ser)
n.1243G>T
13g.113118833C>ACA388786811F7c.1160C>A (p.Ala387Asp)
c.1226C>A (p.Ala409Asp)
c.974C>A (p.Ala325Asp)
n.1247C>A
c.1019C>A (p.Ala340Asp)
c.1268C>A (p.Ala423Asp)
c.1082C>A (p.Ala361Asp)
c.920C>A (p.Ala307Asp)
c.1229C>A (p.Ala410Asp)
c.1064C>A (p.Ala355Asp)
c.1313C>A (p.Ala438Asp)
c.1127C>A (p.Ala376Asp)
n.1244C>A
13g.113118833C=CA2120142752F7c.1160C= (p.Ala387=)
c.1226C= (p.Ala409=)
c.974C= (p.Ala325=)
n.1247C=
c.1019C= (p.Ala340=)
c.1268C= (p.Ala423=)
c.1082C= (p.Ala361=)
c.920C= (p.Ala307=)
c.1229C= (p.Ala410=)
c.1064C= (p.Ala355=)
c.1313C= (p.Ala438=)
c.1127C= (p.Ala376=)
n.1244C=
13g.113118833C>GCA388786813F7c.1160C>G (p.Ala387Gly)
c.1226C>G (p.Ala409Gly)
c.974C>G (p.Ala325Gly)
n.1247C>G
c.1019C>G (p.Ala340Gly)
c.1268C>G (p.Ala423Gly)
c.1082C>G (p.Ala361Gly)
c.920C>G (p.Ala307Gly)
c.1229C>G (p.Ala410Gly)
c.1064C>G (p.Ala355Gly)
c.1313C>G (p.Ala438Gly)
c.1127C>G (p.Ala376Gly)
n.1244C>G
13g.113118833C>TCA388786814F7c.1160C>T (p.Ala387Val)
c.1226C>T (p.Ala409Val)
c.974C>T (p.Ala325Val)
n.1247C>T
c.1019C>T (p.Ala340Val)
c.1268C>T (p.Ala423Val)
c.1082C>T (p.Ala361Val)
c.920C>T (p.Ala307Val)
c.1229C>T (p.Ala410Val)
c.1064C>T (p.Ala355Val)
c.1313C>T (p.Ala438Val)
c.1127C>T (p.Ala376Val)
n.1244C>T
 dbSNP gnomAD v2
13g.113118834C>ACA485021207F7c.1161C>A (p.Ala387=)
c.1227C>A (p.Ala409=)
c.975C>A (p.Ala325=)
n.1248C>A
c.1020C>A (p.Ala340=)
c.1269C>A (p.Ala423=)
c.1083C>A (p.Ala361=)
c.921C>A (p.Ala307=)
c.1230C>A (p.Ala410=)
c.1065C>A (p.Ala355=)
c.1314C>A (p.Ala438=)
c.1128C>A (p.Ala376=)
n.1245C>A
13g.113118834C>GCA485021206F7c.1161C>G (p.Ala387=)
c.1227C>G (p.Ala409=)
c.975C>G (p.Ala325=)
n.1248C>G
c.1020C>G (p.Ala340=)
c.1269C>G (p.Ala423=)
c.1083C>G (p.Ala361=)
c.921C>G (p.Ala307=)
c.1230C>G (p.Ala410=)
c.1065C>G (p.Ala355=)
c.1314C>G (p.Ala438=)
c.1128C>G (p.Ala376=)
n.1245C>G
13g.113118834C>TCA485021205F7c.1161C>T (p.Ala387=)
c.1227C>T (p.Ala409=)
c.975C>T (p.Ala325=)
n.1248C>T
c.1020C>T (p.Ala340=)
c.1269C>T (p.Ala423=)
c.1083C>T (p.Ala361=)
c.921C>T (p.Ala307=)
c.1230C>T (p.Ala410=)
c.1065C>T (p.Ala355=)
c.1314C>T (p.Ala438=)
c.1128C>T (p.Ala376=)
n.1245C>T
13g.113118835A=CA2120142757F7c.1162A= (p.Thr388=)
c.1228A= (p.Thr410=)
c.976A= (p.Thr326=)
n.1249A=
c.1021A= (p.Thr341=)
c.1270A= (p.Thr424=)
c.1084A= (p.Thr362=)
c.922A= (p.Thr308=)
c.1231A= (p.Thr411=)
c.1066A= (p.Thr356=)
c.1315A= (p.Thr439=)
c.1129A= (p.Thr377=)
n.1246A=
13g.113118835A>CCA388786817F7c.1162A>C (p.Thr388Pro)
c.1228A>C (p.Thr410Pro)
c.976A>C (p.Thr326Pro)
n.1249A>C
c.1021A>C (p.Thr341Pro)
c.1270A>C (p.Thr424Pro)
c.1084A>C (p.Thr362Pro)
c.922A>C (p.Thr308Pro)
c.1231A>C (p.Thr411Pro)
c.1066A>C (p.Thr356Pro)
c.1315A>C (p.Thr439Pro)
c.1129A>C (p.Thr377Pro)
n.1246A>C
 gnomAD v4
13g.113118835A>GCA388786818F7c.1162A>G (p.Thr388Ala)
c.1228A>G (p.Thr410Ala)
c.976A>G (p.Thr326Ala)
n.1249A>G
c.1021A>G (p.Thr341Ala)
c.1270A>G (p.Thr424Ala)
c.1084A>G (p.Thr362Ala)
c.922A>G (p.Thr308Ala)
c.1231A>G (p.Thr411Ala)
c.1066A>G (p.Thr356Ala)
c.1315A>G (p.Thr439Ala)
c.1129A>G (p.Thr377Ala)
n.1246A>G
 dbSNP gnomAD v4
13g.113118835A>TCA388786820F7c.1162A>T (p.Thr388Ser)
c.1228A>T (p.Thr410Ser)
c.976A>T (p.Thr326Ser)
n.1249A>T
c.1021A>T (p.Thr341Ser)
c.1270A>T (p.Thr424Ser)
c.1084A>T (p.Thr362Ser)
c.922A>T (p.Thr308Ser)
c.1231A>T (p.Thr411Ser)
c.1066A>T (p.Thr356Ser)
c.1315A>T (p.Thr439Ser)
c.1129A>T (p.Thr377Ser)
n.1246A>T
13g.113118835_113118836delinsACCA2120142756F7c.1162_1163delinsAC (p.Thr388=)
c.1228_1229delinsAC (p.Thr410=)
c.976_977delinsAC (p.Thr326=)
n.1249_1250delinsAC
c.1021_1022delinsAC (p.Thr341=)
c.1270_1271delinsAC (p.Thr424=)
c.1084_1085delinsAC (p.Thr362=)
c.922_923delinsAC (p.Thr308=)
c.1231_1232delinsAC (p.Thr411=)
c.1066_1067delinsAC (p.Thr356=)
c.1315_1316delinsAC (p.Thr439=)
c.1129_1130delinsAC (p.Thr377=)
n.1246_1247delinsAC
13g.113118836C>ACA388786823F7c.1163C>A (p.Thr388Asn)
c.1229C>A (p.Thr410Asn)
c.977C>A (p.Thr326Asn)
n.1250C>A
c.1022C>A (p.Thr341Asn)
c.1271C>A (p.Thr424Asn)
c.1085C>A (p.Thr362Asn)
c.923C>A (p.Thr308Asn)
c.1232C>A (p.Thr411Asn)
c.1067C>A (p.Thr356Asn)
c.1316C>A (p.Thr439Asn)
c.1130C>A (p.Thr377Asn)
n.1247C>A
13g.113118836C>GCA388786825F7c.1163C>G (p.Thr388Ser)
c.1229C>G (p.Thr410Ser)
c.977C>G (p.Thr326Ser)
n.1250C>G
c.1022C>G (p.Thr341Ser)
c.1271C>G (p.Thr424Ser)
c.1085C>G (p.Thr362Ser)
c.923C>G (p.Thr308Ser)
c.1232C>G (p.Thr411Ser)
c.1067C>G (p.Thr356Ser)
c.1316C>G (p.Thr439Ser)
c.1130C>G (p.Thr377Ser)
n.1247C>G
13g.113118836C>TCA388786827F7c.1163C>T (p.Thr388Ile)
c.1229C>T (p.Thr410Ile)
c.977C>T (p.Thr326Ile)
n.1250C>T
c.1022C>T (p.Thr341Ile)
c.1271C>T (p.Thr424Ile)
c.1085C>T (p.Thr362Ile)
c.923C>T (p.Thr308Ile)
c.1232C>T (p.Thr411Ile)
c.1067C>T (p.Thr356Ile)
c.1316C>T (p.Thr439Ile)
c.1130C>T (p.Thr377Ile)
n.1247C>T
13g.113118838dupCA2120142765F7c.1165dup (p.His389ProfsTer?)
c.1231dup (p.His411ProfsTer?)
c.979dup (p.His327ProfsTer?)
n.1252dup
c.1024dup (p.His342ProfsTer?)
c.1273dup (p.His425ProfsTer?)
c.1087dup (p.His363ProfsTer?)
c.925dup (p.His309ProfsTer?)
c.1234dup (p.His412ProfsTer?)
c.1069dup (p.His357ProfsTer?)
c.1318dup (p.His440ProfsTer?)
c.1132dup (p.His378ProfsTer?)
n.1249dup
 dbSNP
13g.113118838delCA612868381F7c.1165del (p.His389ThrfsTer8)
c.1231del (p.His411ThrfsTer8)
c.979del (p.His327ThrfsTer8)
n.1252del
c.1024del (p.His342ThrfsTer8)
c.1273del (p.His425ThrfsTer8)
c.1087del (p.His363ThrfsTer8)
c.925del (p.His309ThrfsTer8)
c.1234del (p.His412ThrfsTer8)
c.1069del (p.His357ThrfsTer8)
c.1318del (p.His440ThrfsTer8)
c.1132del (p.His378ThrfsTer8)
n.1249del
 dbSNP gnomAD v2 gnomAD v4
13g.113118837C>ACA485021210F7c.1164C>A (p.Thr388=)
c.1230C>A (p.Thr410=)
c.978C>A (p.Thr326=)
n.1251C>A
c.1023C>A (p.Thr341=)
c.1272C>A (p.Thr424=)
c.1086C>A (p.Thr362=)
c.924C>A (p.Thr308=)
c.1233C>A (p.Thr411=)
c.1068C>A (p.Thr356=)
c.1317C>A (p.Thr439=)
c.1131C>A (p.Thr377=)
n.1248C>A
13g.113118837C>GCA485021209F7c.1164C>G (p.Thr388=)
c.1230C>G (p.Thr410=)
c.978C>G (p.Thr326=)
n.1251C>G
c.1023C>G (p.Thr341=)
c.1272C>G (p.Thr424=)
c.1086C>G (p.Thr362=)
c.924C>G (p.Thr308=)
c.1233C>G (p.Thr411=)
c.1068C>G (p.Thr356=)
c.1317C>G (p.Thr439=)
c.1131C>G (p.Thr377=)
n.1248C>G
13g.113118837C>TCA485021208F7c.1164C>T (p.Thr388=)
c.1230C>T (p.Thr410=)
c.978C>T (p.Thr326=)
n.1251C>T
c.1023C>T (p.Thr341=)
c.1272C>T (p.Thr424=)
c.1086C>T (p.Thr362=)
c.924C>T (p.Thr308=)
c.1233C>T (p.Thr411=)
c.1068C>T (p.Thr356=)
c.1317C>T (p.Thr439=)
c.1131C>T (p.Thr377=)
n.1248C>T
13g.113118838C>ACA388786829F7c.1165C>A (p.His389Asn)
c.1231C>A (p.His411Asn)
c.979C>A (p.His327Asn)
n.1252C>A
c.1024C>A (p.His342Asn)
c.1273C>A (p.His425Asn)
c.1087C>A (p.His363Asn)
c.925C>A (p.His309Asn)
c.1234C>A (p.His412Asn)
c.1069C>A (p.His357Asn)
c.1318C>A (p.His440Asn)
c.1132C>A (p.His378Asn)
n.1249C>A
13g.113118838C>GCA388786830F7c.1165C>G (p.His389Asp)
c.1231C>G (p.His411Asp)
c.979C>G (p.His327Asp)
n.1252C>G
c.1024C>G (p.His342Asp)
c.1273C>G (p.His425Asp)
c.1087C>G (p.His363Asp)
c.925C>G (p.His309Asp)
c.1234C>G (p.His412Asp)
c.1069C>G (p.His357Asp)
c.1318C>G (p.His440Asp)
c.1132C>G (p.His378Asp)
n.1249C>G
13g.113118838C>TCA388786832F7c.1165C>T (p.His389Tyr)
c.1231C>T (p.His411Tyr)
c.979C>T (p.His327Tyr)
n.1252C>T
c.1024C>T (p.His342Tyr)
c.1273C>T (p.His425Tyr)
c.1087C>T (p.His363Tyr)
c.925C>T (p.His309Tyr)
c.1234C>T (p.His412Tyr)
c.1069C>T (p.His357Tyr)
c.1318C>T (p.His440Tyr)
c.1132C>T (p.His378Tyr)
n.1249C>T
13g.113118839A=CA2120142771F7c.1166A= (p.His389=)
c.1232A= (p.His411=)
c.980A= (p.His327=)
n.1253A=
c.1025A= (p.His342=)
c.1274A= (p.His425=)
c.1088A= (p.His363=)
c.926A= (p.His309=)
c.1235A= (p.His412=)
c.1070A= (p.His357=)
c.1319A= (p.His440=)
c.1133A= (p.His378=)
n.1250A=
13g.113118839A>CCA388786838F7c.1166A>C (p.His389Pro)
c.1232A>C (p.His411Pro)
c.980A>C (p.His327Pro)
n.1253A>C
c.1025A>C (p.His342Pro)
c.1274A>C (p.His425Pro)
c.1088A>C (p.His363Pro)
c.926A>C (p.His309Pro)
c.1235A>C (p.His412Pro)
c.1070A>C (p.His357Pro)
c.1319A>C (p.His440Pro)
c.1133A>C (p.His378Pro)
n.1250A>C
13g.113118839A>GCA388786836F7c.1166A>G (p.His389Arg)
c.1232A>G (p.His411Arg)
c.980A>G (p.His327Arg)
n.1253A>G
c.1025A>G (p.His342Arg)
c.1274A>G (p.His425Arg)
c.1088A>G (p.His363Arg)
c.926A>G (p.His309Arg)
c.1235A>G (p.His412Arg)
c.1070A>G (p.His357Arg)
c.1319A>G (p.His440Arg)
c.1133A>G (p.His378Arg)
n.1250A>G
 dbSNP
13g.113118839A>TCA388786834F7c.1166A>T (p.His389Leu)
c.1232A>T (p.His411Leu)
c.980A>T (p.His327Leu)
n.1253A>T
c.1025A>T (p.His342Leu)
c.1274A>T (p.His425Leu)
c.1088A>T (p.His363Leu)
c.926A>T (p.His309Leu)
c.1235A>T (p.His412Leu)
c.1070A>T (p.His357Leu)
c.1319A>T (p.His440Leu)
c.1133A>T (p.His378Leu)
n.1250A>T
13g.113118840C>ACA388786842F7c.1167C>A (p.His389Gln)
c.1233C>A (p.His411Gln)
c.981C>A (p.His327Gln)
n.1254C>A
c.1026C>A (p.His342Gln)
c.1275C>A (p.His425Gln)
c.1089C>A (p.His363Gln)
c.927C>A (p.His309Gln)
c.1236C>A (p.His412Gln)
c.1071C>A (p.His357Gln)
c.1320C>A (p.His440Gln)
c.1134C>A (p.His378Gln)
n.1251C>A
13g.113118840C=CA2120142779F7c.1167C= (p.His389=)
c.1233C= (p.His411=)
c.981C= (p.His327=)
n.1254C=
c.1026C= (p.His342=)
c.1275C= (p.His425=)
c.1089C= (p.His363=)
c.927C= (p.His309=)
c.1236C= (p.His412=)
c.1071C= (p.His357=)
c.1320C= (p.His440=)
c.1134C= (p.His378=)
n.1251C=
13g.113118840C>GCA7060241F7c.1167C>G (p.His389Gln)
c.1233C>G (p.His411Gln)
c.981C>G (p.His327Gln)
n.1254C>G
c.1026C>G (p.His342Gln)
c.1275C>G (p.His425Gln)
c.1089C>G (p.His363Gln)
c.927C>G (p.His309Gln)
c.1236C>G (p.His412Gln)
c.1071C>G (p.His357Gln)
c.1320C>G (p.His440Gln)
c.1134C>G (p.His378Gln)
n.1251C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118840C>TCA7060242F7c.1167C>T (p.His389=)
c.1233C>T (p.His411=)
c.981C>T (p.His327=)
n.1254C>T
c.1026C>T (p.His342=)
c.1275C>T (p.His425=)
c.1089C>T (p.His363=)
c.927C>T (p.His309=)
c.1236C>T (p.His412=)
c.1071C>T (p.His357=)
c.1320C>T (p.His440=)
c.1134C>T (p.His378=)
n.1251C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118841T>ACA388786844F7c.1168T>A (p.Tyr390Asn)
c.1234T>A (p.Tyr412Asn)
c.982T>A (p.Tyr328Asn)
n.1255T>A
c.1027T>A (p.Tyr343Asn)
c.1276T>A (p.Tyr426Asn)
c.1090T>A (p.Tyr364Asn)
c.928T>A (p.Tyr310Asn)
c.1237T>A (p.Tyr413Asn)
c.1072T>A (p.Tyr358Asn)
c.1321T>A (p.Tyr441Asn)
c.1135T>A (p.Tyr379Asn)
n.1252T>A
13g.113118841T>CCA388786846F7c.1168T>C (p.Tyr390His)
c.1234T>C (p.Tyr412His)
c.982T>C (p.Tyr328His)
n.1255T>C
c.1027T>C (p.Tyr343His)
c.1276T>C (p.Tyr426His)
c.1090T>C (p.Tyr364His)
c.928T>C (p.Tyr310His)
c.1237T>C (p.Tyr413His)
c.1072T>C (p.Tyr358His)
c.1321T>C (p.Tyr441His)
c.1135T>C (p.Tyr379His)
n.1252T>C
13g.113118841T>GCA388786847F7c.1168T>G (p.Tyr390Asp)
c.1234T>G (p.Tyr412Asp)
c.982T>G (p.Tyr328Asp)
n.1255T>G
c.1027T>G (p.Tyr343Asp)
c.1276T>G (p.Tyr426Asp)
c.1090T>G (p.Tyr364Asp)
c.928T>G (p.Tyr310Asp)
c.1237T>G (p.Tyr413Asp)
c.1072T>G (p.Tyr358Asp)
c.1321T>G (p.Tyr441Asp)
c.1135T>G (p.Tyr379Asp)
n.1252T>G
13g.113118842A>CCA388786850F7c.1169A>C (p.Tyr390Ser)
c.1235A>C (p.Tyr412Ser)
c.983A>C (p.Tyr328Ser)
n.1256A>C
c.1028A>C (p.Tyr343Ser)
c.1277A>C (p.Tyr426Ser)
c.1091A>C (p.Tyr364Ser)
c.929A>C (p.Tyr310Ser)
c.1238A>C (p.Tyr413Ser)
c.1073A>C (p.Tyr358Ser)
c.1322A>C (p.Tyr441Ser)
c.1136A>C (p.Tyr379Ser)
n.1253A>C
13g.113118842A>GCA388786852F7c.1169A>G (p.Tyr390Cys)
c.1235A>G (p.Tyr412Cys)
c.983A>G (p.Tyr328Cys)
n.1256A>G
c.1028A>G (p.Tyr343Cys)
c.1277A>G (p.Tyr426Cys)
c.1091A>G (p.Tyr364Cys)
c.929A>G (p.Tyr310Cys)
c.1238A>G (p.Tyr413Cys)
c.1073A>G (p.Tyr358Cys)
c.1322A>G (p.Tyr441Cys)
c.1136A>G (p.Tyr379Cys)
n.1253A>G
 gnomAD v4
13g.113118842A>TCA388786853F7c.1169A>T (p.Tyr390Phe)
c.1235A>T (p.Tyr412Phe)
c.983A>T (p.Tyr328Phe)
n.1256A>T
c.1028A>T (p.Tyr343Phe)
c.1277A>T (p.Tyr426Phe)
c.1091A>T (p.Tyr364Phe)
c.929A>T (p.Tyr310Phe)
c.1238A>T (p.Tyr413Phe)
c.1073A>T (p.Tyr358Phe)
c.1322A>T (p.Tyr441Phe)
c.1136A>T (p.Tyr379Phe)
n.1253A>T
13g.113118843C>ACA388786855F7c.1170C>A (p.Tyr390Ter)
c.1236C>A (p.Tyr412Ter)
c.984C>A (p.Tyr328Ter)
n.1257C>A
c.1029C>A (p.Tyr343Ter)
c.1278C>A (p.Tyr426Ter)
c.1092C>A (p.Tyr364Ter)
c.930C>A (p.Tyr310Ter)
c.1239C>A (p.Tyr413Ter)
c.1074C>A (p.Tyr358Ter)
c.1323C>A (p.Tyr441Ter)
c.1137C>A (p.Tyr379Ter)
n.1254C>A
13g.113118843C>GCA388786857F7c.1170C>G (p.Tyr390Ter)
c.1236C>G (p.Tyr412Ter)
c.984C>G (p.Tyr328Ter)
n.1257C>G
c.1029C>G (p.Tyr343Ter)
c.1278C>G (p.Tyr426Ter)
c.1092C>G (p.Tyr364Ter)
c.930C>G (p.Tyr310Ter)
c.1239C>G (p.Tyr413Ter)
c.1074C>G (p.Tyr358Ter)
c.1323C>G (p.Tyr441Ter)
c.1137C>G (p.Tyr379Ter)
n.1254C>G
13g.113118843C>TCA485021211F7c.1170C>T (p.Tyr390=)
c.1236C>T (p.Tyr412=)
c.984C>T (p.Tyr328=)
n.1257C>T
c.1029C>T (p.Tyr343=)
c.1278C>T (p.Tyr426=)
c.1092C>T (p.Tyr364=)
c.930C>T (p.Tyr310=)
c.1239C>T (p.Tyr413=)
c.1074C>T (p.Tyr358=)
c.1323C>T (p.Tyr441=)
c.1137C>T (p.Tyr379=)
n.1254C>T
 gnomAD v4
13g.113118844C>ACA485021212F7c.1171C>A (p.Arg391=)
c.1237C>A (p.Arg413=)
c.985C>A (p.Arg329=)
n.1258C>A
c.1030C>A (p.Arg344=)
c.1279C>A (p.Arg427=)
c.1093C>A (p.Arg365=)
c.931C>A (p.Arg311=)
c.1240C>A (p.Arg414=)
c.1075C>A (p.Arg359=)
c.1324C>A (p.Arg442=)
c.1138C>A (p.Arg380=)
n.1255C>A
 dbSNP gnomAD v3 gnomAD v4
13g.113118844C=CA2120142787F7c.1171C= (p.Arg391=)
c.1237C= (p.Arg413=)
c.985C= (p.Arg329=)
n.1258C=
c.1030C= (p.Arg344=)
c.1279C= (p.Arg427=)
c.1093C= (p.Arg365=)
c.931C= (p.Arg311=)
c.1240C= (p.Arg414=)
c.1075C= (p.Arg359=)
c.1324C= (p.Arg442=)
c.1138C= (p.Arg380=)
n.1255C=
13g.113118844C>GCA388786858F7c.1171C>G (p.Arg391Gly)
c.1237C>G (p.Arg413Gly)
c.985C>G (p.Arg329Gly)
n.1258C>G
c.1030C>G (p.Arg344Gly)
c.1279C>G (p.Arg427Gly)
c.1093C>G (p.Arg365Gly)
c.931C>G (p.Arg311Gly)
c.1240C>G (p.Arg414Gly)
c.1075C>G (p.Arg359Gly)
c.1324C>G (p.Arg442Gly)
c.1138C>G (p.Arg380Gly)
n.1255C>G
13g.113118844C>TCA7060243F7c.1171C>T (p.Arg391Trp)
c.1237C>T (p.Arg413Trp)
c.985C>T (p.Arg329Trp)
n.1258C>T
c.1030C>T (p.Arg344Trp)
c.1279C>T (p.Arg427Trp)
c.1093C>T (p.Arg365Trp)
c.931C>T (p.Arg311Trp)
c.1240C>T (p.Arg414Trp)
c.1075C>T (p.Arg359Trp)
c.1324C>T (p.Arg442Trp)
c.1138C>T (p.Arg380Trp)
n.1255C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113118845G>ACA121855F7c.1172G>A (p.Arg391Gln)
c.1238G>A (p.Arg413Gln)
c.986G>A (p.Arg329Gln)
n.1259G>A
c.1031G>A (p.Arg344Gln)
c.1280G>A (p.Arg427Gln)
c.1094G>A (p.Arg365Gln)
c.932G>A (p.Arg311Gln)
c.1241G>A (p.Arg414Gln)
c.1076G>A (p.Arg359Gln)
c.1325G>A (p.Arg442Gln)
c.1139G>A (p.Arg380Gln)
n.1256G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118845G>CCA256461862F7c.1172G>C (p.Arg391Pro)
c.1238G>C (p.Arg413Pro)
c.986G>C (p.Arg329Pro)
n.1259G>C
c.1031G>C (p.Arg344Pro)
c.1280G>C (p.Arg427Pro)
c.1094G>C (p.Arg365Pro)
c.932G>C (p.Arg311Pro)
c.1241G>C (p.Arg414Pro)
c.1076G>C (p.Arg359Pro)
c.1325G>C (p.Arg442Pro)
c.1139G>C (p.Arg380Pro)
n.1256G>C
 dbSNP
13g.113118845G=CA2018007887F7c.1172G= (p.Arg391=)
c.1238G= (p.Arg413=)
c.986G= (p.Arg329=)
n.1259G=
c.1031G= (p.Arg344=)
c.1280G= (p.Arg427=)
c.1094G= (p.Arg365=)
c.932G= (p.Arg311=)
c.1241G= (p.Arg414=)
c.1076G= (p.Arg359=)
c.1325G= (p.Arg442=)
c.1139G= (p.Arg380=)
n.1256G=
13g.113118845G>TCA256461867F7c.1172G>T (p.Arg391Leu)
c.1238G>T (p.Arg413Leu)
c.986G>T (p.Arg329Leu)
n.1259G>T
c.1031G>T (p.Arg344Leu)
c.1280G>T (p.Arg427Leu)
c.1094G>T (p.Arg365Leu)
c.932G>T (p.Arg311Leu)
c.1241G>T (p.Arg414Leu)
c.1076G>T (p.Arg359Leu)
c.1325G>T (p.Arg442Leu)
c.1139G>T (p.Arg380Leu)
n.1256G>T
 dbSNP
13g.113118846G>ACA485021213F7c.1173G>A (p.Arg391=)
c.1239G>A (p.Arg413=)
c.987G>A (p.Arg329=)
n.1260G>A
c.1032G>A (p.Arg344=)
c.1281G>A (p.Arg427=)
c.1095G>A (p.Arg365=)
c.933G>A (p.Arg311=)
c.1242G>A (p.Arg414=)
c.1077G>A (p.Arg359=)
c.1326G>A (p.Arg442=)
c.1140G>A (p.Arg380=)
n.1257G>A
 COSMIC
13g.113118846G>CCA256461873F7c.1173G>C (p.Arg391=)
c.1239G>C (p.Arg413=)
c.987G>C (p.Arg329=)
n.1260G>C
c.1032G>C (p.Arg344=)
c.1281G>C (p.Arg427=)
c.1095G>C (p.Arg365=)
c.933G>C (p.Arg311=)
c.1242G>C (p.Arg414=)
c.1077G>C (p.Arg359=)
c.1326G>C (p.Arg442=)
c.1140G>C (p.Arg380=)
n.1257G>C
 dbSNP gnomAD v3 gnomAD v4
13g.113118846G=CA2120142798F7c.1173G= (p.Arg391=)
c.1239G= (p.Arg413=)
c.987G= (p.Arg329=)
n.1260G=
c.1032G= (p.Arg344=)
c.1281G= (p.Arg427=)
c.1095G= (p.Arg365=)
c.933G= (p.Arg311=)
c.1242G= (p.Arg414=)
c.1077G= (p.Arg359=)
c.1326G= (p.Arg442=)
c.1140G= (p.Arg380=)
n.1257G=
13g.113118846G>TCA485021214F7c.1173G>T (p.Arg391=)
c.1239G>T (p.Arg413=)
c.987G>T (p.Arg329=)
n.1260G>T
c.1032G>T (p.Arg344=)
c.1281G>T (p.Arg427=)
c.1095G>T (p.Arg365=)
c.933G>T (p.Arg311=)
c.1242G>T (p.Arg414=)
c.1077G>T (p.Arg359=)
c.1326G>T (p.Arg442=)
c.1140G>T (p.Arg380=)
n.1257G>T
13g.113118847G>ACA388786864F7c.1174G>A (p.Gly392Ser)
c.1240G>A (p.Gly414Ser)
c.988G>A (p.Gly330Ser)
n.1261G>A
c.1033G>A (p.Gly345Ser)
c.1282G>A (p.Gly428Ser)
c.1096G>A (p.Gly366Ser)
c.934G>A (p.Gly312Ser)
c.1243G>A (p.Gly415Ser)
c.1078G>A (p.Gly360Ser)
c.1327G>A (p.Gly443Ser)
c.1141G>A (p.Gly381Ser)
n.1258G>A
 gnomAD v4
13g.113118847G>CCA388786866F7c.1174G>C (p.Gly392Arg)
c.1240G>C (p.Gly414Arg)
c.988G>C (p.Gly330Arg)
n.1261G>C
c.1033G>C (p.Gly345Arg)
c.1282G>C (p.Gly428Arg)
c.1096G>C (p.Gly366Arg)
c.934G>C (p.Gly312Arg)
c.1243G>C (p.Gly415Arg)
c.1078G>C (p.Gly360Arg)
c.1327G>C (p.Gly443Arg)
c.1141G>C (p.Gly381Arg)
n.1258G>C
13g.113118847G=CA2120142800F7c.1174G= (p.Gly392=)
c.1240G= (p.Gly414=)
c.988G= (p.Gly330=)
n.1261G=
c.1033G= (p.Gly345=)
c.1282G= (p.Gly428=)
c.1096G= (p.Gly366=)
c.934G= (p.Gly312=)
c.1243G= (p.Gly415=)
c.1078G= (p.Gly360=)
c.1327G= (p.Gly443=)
c.1141G= (p.Gly381=)
n.1258G=
13g.113118847G>TCA256461887F7c.1174G>T (p.Gly392Cys)
c.1240G>T (p.Gly414Cys)
c.988G>T (p.Gly330Cys)
n.1261G>T
c.1033G>T (p.Gly345Cys)
c.1282G>T (p.Gly428Cys)
c.1096G>T (p.Gly366Cys)
c.934G>T (p.Gly312Cys)
c.1243G>T (p.Gly415Cys)
c.1078G>T (p.Gly360Cys)
c.1327G>T (p.Gly443Cys)
c.1141G>T (p.Gly381Cys)
n.1258G>T
 ClinVar dbSNP
13g.113118848G>ACA388786870F7c.1175G>A (p.Gly392Asp)
c.1241G>A (p.Gly414Asp)
c.989G>A (p.Gly330Asp)
n.1262G>A
c.1034G>A (p.Gly345Asp)
c.1283G>A (p.Gly428Asp)
c.1097G>A (p.Gly366Asp)
c.935G>A (p.Gly312Asp)
c.1244G>A (p.Gly415Asp)
c.1079G>A (p.Gly360Asp)
c.1328G>A (p.Gly443Asp)
c.1142G>A (p.Gly381Asp)
n.1259G>A
 dbSNP gnomAD v2 gnomAD v4
13g.113118848G>CCA388786871F7c.1175G>C (p.Gly392Ala)
c.1241G>C (p.Gly414Ala)
c.989G>C (p.Gly330Ala)
n.1262G>C
c.1034G>C (p.Gly345Ala)
c.1283G>C (p.Gly428Ala)
c.1097G>C (p.Gly366Ala)
c.935G>C (p.Gly312Ala)
c.1244G>C (p.Gly415Ala)
c.1079G>C (p.Gly360Ala)
c.1328G>C (p.Gly443Ala)
c.1142G>C (p.Gly381Ala)
n.1259G>C
13g.113118848G=CA2120142802F7c.1175G= (p.Gly392=)
c.1241G= (p.Gly414=)
c.989G= (p.Gly330=)
n.1262G=
c.1034G= (p.Gly345=)
c.1283G= (p.Gly428=)
c.1097G= (p.Gly366=)
c.935G= (p.Gly312=)
c.1244G= (p.Gly415=)
c.1079G= (p.Gly360=)
c.1328G= (p.Gly443=)
c.1142G= (p.Gly381=)
n.1259G=
13g.113118848G>TCA388786873F7c.1175G>T (p.Gly392Val)
c.1241G>T (p.Gly414Val)
c.989G>T (p.Gly330Val)
n.1262G>T
c.1034G>T (p.Gly345Val)
c.1283G>T (p.Gly428Val)
c.1097G>T (p.Gly366Val)
c.935G>T (p.Gly312Val)
c.1244G>T (p.Gly415Val)
c.1079G>T (p.Gly360Val)
c.1328G>T (p.Gly443Val)
c.1142G>T (p.Gly381Val)
n.1259G>T
13g.113118849C>ACA485021215F7c.1176C>A (p.Gly392=)
c.1242C>A (p.Gly414=)
c.990C>A (p.Gly330=)
n.1263C>A
c.1035C>A (p.Gly345=)
c.1284C>A (p.Gly428=)
c.1098C>A (p.Gly366=)
c.936C>A (p.Gly312=)
c.1245C>A (p.Gly415=)
c.1080C>A (p.Gly360=)
c.1329C>A (p.Gly443=)
c.1143C>A (p.Gly381=)
n.1260C>A
13g.113118849C>GCA485021216F7c.1176C>G (p.Gly392=)
c.1242C>G (p.Gly414=)
c.990C>G (p.Gly330=)
n.1263C>G
c.1035C>G (p.Gly345=)
c.1284C>G (p.Gly428=)
c.1098C>G (p.Gly366=)
c.936C>G (p.Gly312=)
c.1245C>G (p.Gly415=)
c.1080C>G (p.Gly360=)
c.1329C>G (p.Gly443=)
c.1143C>G (p.Gly381=)
n.1260C>G
13g.113118849C>TCA485021217F7c.1176C>T (p.Gly392=)
c.1242C>T (p.Gly414=)
c.990C>T (p.Gly330=)
n.1263C>T
c.1035C>T (p.Gly345=)
c.1284C>T (p.Gly428=)
c.1098C>T (p.Gly366=)
c.936C>T (p.Gly312=)
c.1245C>T (p.Gly415=)
c.1080C>T (p.Gly360=)
c.1329C>T (p.Gly443=)
c.1143C>T (p.Gly381=)
n.1260C>T
13g.113118850A>CCA388786875F7c.1177A>C (p.Thr393Pro)
c.1243A>C (p.Thr415Pro)
c.991A>C (p.Thr331Pro)
n.1264A>C
c.1036A>C (p.Thr346Pro)
c.1285A>C (p.Thr429Pro)
c.1099A>C (p.Thr367Pro)
c.937A>C (p.Thr313Pro)
c.1246A>C (p.Thr416Pro)
c.1081A>C (p.Thr361Pro)
c.1330A>C (p.Thr444Pro)
c.1144A>C (p.Thr382Pro)
n.1261A>C
13g.113118850A>GCA388786879F7c.1177A>G (p.Thr393Ala)
c.1243A>G (p.Thr415Ala)
c.991A>G (p.Thr331Ala)
n.1264A>G
c.1036A>G (p.Thr346Ala)
c.1285A>G (p.Thr429Ala)
c.1099A>G (p.Thr367Ala)
c.937A>G (p.Thr313Ala)
c.1246A>G (p.Thr416Ala)
c.1081A>G (p.Thr361Ala)
c.1330A>G (p.Thr444Ala)
c.1144A>G (p.Thr382Ala)
n.1261A>G
13g.113118850A>TCA388786877F7c.1177A>T (p.Thr393Ser)
c.1243A>T (p.Thr415Ser)
c.991A>T (p.Thr331Ser)
n.1264A>T
c.1036A>T (p.Thr346Ser)
c.1285A>T (p.Thr429Ser)
c.1099A>T (p.Thr367Ser)
c.937A>T (p.Thr313Ser)
c.1246A>T (p.Thr416Ser)
c.1081A>T (p.Thr361Ser)
c.1330A>T (p.Thr444Ser)
c.1144A>T (p.Thr382Ser)
n.1261A>T
13g.113118851C>ACA388786882F7c.1178C>A (p.Thr393Lys)
c.1244C>A (p.Thr415Lys)
c.992C>A (p.Thr331Lys)
n.1265C>A
c.1037C>A (p.Thr346Lys)
c.1286C>A (p.Thr429Lys)
c.1100C>A (p.Thr367Lys)
c.938C>A (p.Thr313Lys)
c.1247C>A (p.Thr416Lys)
c.1082C>A (p.Thr361Lys)
c.1331C>A (p.Thr444Lys)
c.1145C>A (p.Thr382Lys)
n.1262C>A
13g.113118851C=CA2120142807F7c.1178C= (p.Thr393=)
c.1244C= (p.Thr415=)
c.992C= (p.Thr331=)
n.1265C=
c.1037C= (p.Thr346=)
c.1286C= (p.Thr429=)
c.1100C= (p.Thr367=)
c.938C= (p.Thr313=)
c.1247C= (p.Thr416=)
c.1082C= (p.Thr361=)
c.1331C= (p.Thr444=)
c.1145C= (p.Thr382=)
n.1262C=
13g.113118851C>GCA388786884F7c.1178C>G (p.Thr393Arg)
c.1244C>G (p.Thr415Arg)
c.992C>G (p.Thr331Arg)
n.1265C>G
c.1037C>G (p.Thr346Arg)
c.1286C>G (p.Thr429Arg)
c.1100C>G (p.Thr367Arg)
c.938C>G (p.Thr313Arg)
c.1247C>G (p.Thr416Arg)
c.1082C>G (p.Thr361Arg)
c.1331C>G (p.Thr444Arg)
c.1145C>G (p.Thr382Arg)
n.1262C>G
 gnomAD v4
13g.113118851C>TCA388786886F7c.1178C>T (p.Thr393Met)
c.1244C>T (p.Thr415Met)
c.992C>T (p.Thr331Met)
n.1265C>T
c.1037C>T (p.Thr346Met)
c.1286C>T (p.Thr429Met)
c.1100C>T (p.Thr367Met)
c.938C>T (p.Thr313Met)
c.1247C>T (p.Thr416Met)
c.1082C>T (p.Thr361Met)
c.1331C>T (p.Thr444Met)
c.1145C>T (p.Thr382Met)
n.1262C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113118852G>ACA7060244F7c.1179G>A (p.Thr393=)
c.1245G>A (p.Thr415=)
c.993G>A (p.Thr331=)
n.1266G>A
c.1038G>A (p.Thr346=)
c.1287G>A (p.Thr429=)
c.1101G>A (p.Thr367=)
c.939G>A (p.Thr313=)
c.1248G>A (p.Thr416=)
c.1083G>A (p.Thr361=)
c.1332G>A (p.Thr444=)
c.1146G>A (p.Thr382=)
n.1263G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118852G>CCA7060245F7c.1179G>C (p.Thr393=)
c.1245G>C (p.Thr415=)
c.993G>C (p.Thr331=)
n.1266G>C
c.1038G>C (p.Thr346=)
c.1287G>C (p.Thr429=)
c.1101G>C (p.Thr367=)
c.939G>C (p.Thr313=)
c.1248G>C (p.Thr416=)
c.1083G>C (p.Thr361=)
c.1332G>C (p.Thr444=)
c.1146G>C (p.Thr382=)
n.1263G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118852G=CA2120142812F7c.1179G= (p.Thr393=)
c.1245G= (p.Thr415=)
c.993G= (p.Thr331=)
n.1266G=
c.1038G= (p.Thr346=)
c.1287G= (p.Thr429=)
c.1101G= (p.Thr367=)
c.939G= (p.Thr313=)
c.1248G= (p.Thr416=)
c.1083G= (p.Thr361=)
c.1332G= (p.Thr444=)
c.1146G= (p.Thr382=)
n.1263G=
13g.113118852G>TCA485021218F7c.1179G>T (p.Thr393=)
c.1245G>T (p.Thr415=)
c.993G>T (p.Thr331=)
n.1266G>T
c.1038G>T (p.Thr346=)
c.1287G>T (p.Thr429=)
c.1101G>T (p.Thr367=)
c.939G>T (p.Thr313=)
c.1248G>T (p.Thr416=)
c.1083G>T (p.Thr361=)
c.1332G>T (p.Thr444=)
c.1146G>T (p.Thr382=)
n.1263G>T
13g.113118853_113118854delCA2623809360F7c.1180_1181del (p.Trp394ValfsTer?)
c.1246_1247del (p.Trp416ValfsTer?)
c.994_995del (p.Trp332ValfsTer?)
n.1267_1268del
c.1039_1040del (p.Trp347ValfsTer?)
c.1288_1289del (p.Trp430ValfsTer?)
c.1102_1103del (p.Trp368ValfsTer?)
c.940_941del (p.Trp314ValfsTer?)
c.1249_1250del (p.Trp417ValfsTer?)
c.1084_1085del (p.Trp362ValfsTer?)
c.1333_1334del (p.Trp445ValfsTer?)
c.1147_1148del (p.Trp383ValfsTer?)
n.1264_1265del
 gnomAD v4
13g.113118853delCA2695218993F7c.1180del (p.Trp394GlyfsTer3)
c.1246del (p.Trp416GlyfsTer3)
c.994del (p.Trp332GlyfsTer3)
n.1267del
c.1039del (p.Trp347GlyfsTer3)
c.1288del (p.Trp430GlyfsTer3)
c.1102del (p.Trp368GlyfsTer3)
c.940del (p.Trp314GlyfsTer3)
c.1249del (p.Trp417GlyfsTer3)
c.1084del (p.Trp362GlyfsTer3)
c.1333del (p.Trp445GlyfsTer3)
c.1147del (p.Trp383GlyfsTer3)
n.1264del
13g.113118853T>ACA388786893F7c.1180T>A (p.Trp394Arg)
c.1246T>A (p.Trp416Arg)
c.994T>A (p.Trp332Arg)
n.1267T>A
c.1039T>A (p.Trp347Arg)
c.1288T>A (p.Trp430Arg)
c.1102T>A (p.Trp368Arg)
c.940T>A (p.Trp314Arg)
c.1249T>A (p.Trp417Arg)
c.1084T>A (p.Trp362Arg)
c.1333T>A (p.Trp445Arg)
c.1147T>A (p.Trp383Arg)
n.1264T>A
13g.113118853T>CCA388786894F7c.1180T>C (p.Trp394Arg)
c.1246T>C (p.Trp416Arg)
c.994T>C (p.Trp332Arg)
n.1267T>C
c.1039T>C (p.Trp347Arg)
c.1288T>C (p.Trp430Arg)
c.1102T>C (p.Trp368Arg)
c.940T>C (p.Trp314Arg)
c.1249T>C (p.Trp417Arg)
c.1084T>C (p.Trp362Arg)
c.1333T>C (p.Trp445Arg)
c.1147T>C (p.Trp383Arg)
n.1264T>C
13g.113118853T>GCA388786891F7c.1180T>G (p.Trp394Gly)
c.1246T>G (p.Trp416Gly)
c.994T>G (p.Trp332Gly)
n.1267T>G
c.1039T>G (p.Trp347Gly)
c.1288T>G (p.Trp430Gly)
c.1102T>G (p.Trp368Gly)
c.940T>G (p.Trp314Gly)
c.1249T>G (p.Trp417Gly)
c.1084T>G (p.Trp362Gly)
c.1333T>G (p.Trp445Gly)
c.1147T>G (p.Trp383Gly)
n.1264T>G
13g.113118854G>ACA388786898F7c.1181G>A (p.Trp394Ter)
c.1247G>A (p.Trp416Ter)
c.995G>A (p.Trp332Ter)
n.1268G>A
c.1040G>A (p.Trp347Ter)
c.1289G>A (p.Trp430Ter)
c.1103G>A (p.Trp368Ter)
c.941G>A (p.Trp314Ter)
c.1250G>A (p.Trp417Ter)
c.1085G>A (p.Trp362Ter)
c.1334G>A (p.Trp445Ter)
c.1148G>A (p.Trp383Ter)
n.1265G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.113118854G>CCA388786902F7c.1181G>C (p.Trp394Ser)
c.1247G>C (p.Trp416Ser)
c.995G>C (p.Trp332Ser)
n.1268G>C
c.1040G>C (p.Trp347Ser)
c.1289G>C (p.Trp430Ser)
c.1103G>C (p.Trp368Ser)
c.941G>C (p.Trp314Ser)
c.1250G>C (p.Trp417Ser)
c.1085G>C (p.Trp362Ser)
c.1334G>C (p.Trp445Ser)
c.1148G>C (p.Trp383Ser)
n.1265G>C
13g.113118854G=CA2120142818F7c.1181G= (p.Trp394=)
c.1247G= (p.Trp416=)
c.995G= (p.Trp332=)
n.1268G=
c.1040G= (p.Trp347=)
c.1289G= (p.Trp430=)
c.1103G= (p.Trp368=)
c.941G= (p.Trp314=)
c.1250G= (p.Trp417=)
c.1085G= (p.Trp362=)
c.1334G= (p.Trp445=)
c.1148G= (p.Trp383=)
n.1265G=
13g.113118854G>TCA388786899F7c.1181G>T (p.Trp394Leu)
c.1247G>T (p.Trp416Leu)
c.995G>T (p.Trp332Leu)
n.1268G>T
c.1040G>T (p.Trp347Leu)
c.1289G>T (p.Trp430Leu)
c.1103G>T (p.Trp368Leu)
c.941G>T (p.Trp314Leu)
c.1250G>T (p.Trp417Leu)
c.1085G>T (p.Trp362Leu)
c.1334G>T (p.Trp445Leu)
c.1148G>T (p.Trp383Leu)
n.1265G>T
13g.113118855G>ACA388786903F7c.1182G>A (p.Trp394Ter)
c.1248G>A (p.Trp416Ter)
c.996G>A (p.Trp332Ter)
n.1269G>A
c.1041G>A (p.Trp347Ter)
c.1290G>A (p.Trp430Ter)
c.1104G>A (p.Trp368Ter)
c.942G>A (p.Trp314Ter)
c.1251G>A (p.Trp417Ter)
c.1086G>A (p.Trp362Ter)
c.1335G>A (p.Trp445Ter)
c.1149G>A (p.Trp383Ter)
n.1266G>A
13g.113118855G>CCA388786905F7c.1182G>C (p.Trp394Cys)
c.1248G>C (p.Trp416Cys)
c.996G>C (p.Trp332Cys)
n.1269G>C
c.1041G>C (p.Trp347Cys)
c.1290G>C (p.Trp430Cys)
c.1104G>C (p.Trp368Cys)
c.942G>C (p.Trp314Cys)
c.1251G>C (p.Trp417Cys)
c.1086G>C (p.Trp362Cys)
c.1335G>C (p.Trp445Cys)
c.1149G>C (p.Trp383Cys)
n.1266G>C
13g.113118855G>TCA388786907F7c.1182G>T (p.Trp394Cys)
c.1248G>T (p.Trp416Cys)
c.996G>T (p.Trp332Cys)
n.1269G>T
c.1041G>T (p.Trp347Cys)
c.1290G>T (p.Trp430Cys)
c.1104G>T (p.Trp368Cys)
c.942G>T (p.Trp314Cys)
c.1251G>T (p.Trp417Cys)
c.1086G>T (p.Trp362Cys)
c.1335G>T (p.Trp445Cys)
c.1149G>T (p.Trp383Cys)
n.1266G>T
13g.113118856T>ACA388786910F7c.1183T>A (p.Tyr395Asn)
c.1249T>A (p.Tyr417Asn)
c.997T>A (p.Tyr333Asn)
n.1270T>A
c.1042T>A (p.Tyr348Asn)
c.1291T>A (p.Tyr431Asn)
c.1105T>A (p.Tyr369Asn)
c.943T>A (p.Tyr315Asn)
c.1252T>A (p.Tyr418Asn)
c.1087T>A (p.Tyr363Asn)
c.1336T>A (p.Tyr446Asn)
c.1150T>A (p.Tyr384Asn)
n.1267T>A
13g.113118856T>CCA388786911F7c.1183T>C (p.Tyr395His)
c.1249T>C (p.Tyr417His)
c.997T>C (p.Tyr333His)
n.1270T>C
c.1042T>C (p.Tyr348His)
c.1291T>C (p.Tyr431His)
c.1105T>C (p.Tyr369His)
c.943T>C (p.Tyr315His)
c.1252T>C (p.Tyr418His)
c.1087T>C (p.Tyr363His)
c.1336T>C (p.Tyr446His)
c.1150T>C (p.Tyr384His)
n.1267T>C
13g.113118856T>GCA388786914F7c.1183T>G (p.Tyr395Asp)
c.1249T>G (p.Tyr417Asp)
c.997T>G (p.Tyr333Asp)
n.1270T>G
c.1042T>G (p.Tyr348Asp)
c.1291T>G (p.Tyr431Asp)
c.1105T>G (p.Tyr369Asp)
c.943T>G (p.Tyr315Asp)
c.1252T>G (p.Tyr418Asp)
c.1087T>G (p.Tyr363Asp)
c.1336T>G (p.Tyr446Asp)
c.1150T>G (p.Tyr384Asp)
n.1267T>G
13g.113118857A>CCA388786917F7c.1184A>C (p.Tyr395Ser)
c.1250A>C (p.Tyr417Ser)
c.998A>C (p.Tyr333Ser)
n.1271A>C
c.1043A>C (p.Tyr348Ser)
c.1292A>C (p.Tyr431Ser)
c.1106A>C (p.Tyr369Ser)
c.944A>C (p.Tyr315Ser)
c.1253A>C (p.Tyr418Ser)
c.1088A>C (p.Tyr363Ser)
c.1337A>C (p.Tyr446Ser)
c.1151A>C (p.Tyr384Ser)
n.1268A>C
13g.113118857A>GCA388786919F7c.1184A>G (p.Tyr395Cys)
c.1250A>G (p.Tyr417Cys)
c.998A>G (p.Tyr333Cys)
n.1271A>G
c.1043A>G (p.Tyr348Cys)
c.1292A>G (p.Tyr431Cys)
c.1106A>G (p.Tyr369Cys)
c.944A>G (p.Tyr315Cys)
c.1253A>G (p.Tyr418Cys)
c.1088A>G (p.Tyr363Cys)
c.1337A>G (p.Tyr446Cys)
c.1151A>G (p.Tyr384Cys)
n.1268A>G
13g.113118857A>TCA388786921F7c.1184A>T (p.Tyr395Phe)
c.1250A>T (p.Tyr417Phe)
c.998A>T (p.Tyr333Phe)
n.1271A>T
c.1043A>T (p.Tyr348Phe)
c.1292A>T (p.Tyr431Phe)
c.1106A>T (p.Tyr369Phe)
c.944A>T (p.Tyr315Phe)
c.1253A>T (p.Tyr418Phe)
c.1088A>T (p.Tyr363Phe)
c.1337A>T (p.Tyr446Phe)
c.1151A>T (p.Tyr384Phe)
n.1268A>T
13g.113118858C>ACA388786922F7c.1185C>A (p.Tyr395Ter)
c.1251C>A (p.Tyr417Ter)
c.999C>A (p.Tyr333Ter)
n.1272C>A
c.1044C>A (p.Tyr348Ter)
c.1293C>A (p.Tyr431Ter)
c.1107C>A (p.Tyr369Ter)
c.945C>A (p.Tyr315Ter)
c.1254C>A (p.Tyr418Ter)
c.1089C>A (p.Tyr363Ter)
c.1338C>A (p.Tyr446Ter)
c.1152C>A (p.Tyr384Ter)
n.1269C>A
 COSMIC
13g.113118858C>GCA388786924F7c.1185C>G (p.Tyr395Ter)
c.1251C>G (p.Tyr417Ter)
c.999C>G (p.Tyr333Ter)
n.1272C>G
c.1044C>G (p.Tyr348Ter)
c.1293C>G (p.Tyr431Ter)
c.1107C>G (p.Tyr369Ter)
c.945C>G (p.Tyr315Ter)
c.1254C>G (p.Tyr418Ter)
c.1089C>G (p.Tyr363Ter)
c.1338C>G (p.Tyr446Ter)
c.1152C>G (p.Tyr384Ter)
n.1269C>G
13g.113118858C>TCA485021219F7c.1185C>T (p.Tyr395=)
c.1251C>T (p.Tyr417=)
c.999C>T (p.Tyr333=)
n.1272C>T
c.1044C>T (p.Tyr348=)
c.1293C>T (p.Tyr431=)
c.1107C>T (p.Tyr369=)
c.945C>T (p.Tyr315=)
c.1254C>T (p.Tyr418=)
c.1089C>T (p.Tyr363=)
c.1338C>T (p.Tyr446=)
c.1152C>T (p.Tyr384=)
n.1269C>T
13g.113118859C>ACA388786926F7c.1186C>A (p.Leu396Met)
c.1252C>A (p.Leu418Met)
c.1000C>A (p.Leu334Met)
n.1273C>A
c.1045C>A (p.Leu349Met)
c.1294C>A (p.Leu432Met)
c.1108C>A (p.Leu370Met)
c.946C>A (p.Leu316Met)
c.1255C>A (p.Leu419Met)
c.1090C>A (p.Leu364Met)
c.1339C>A (p.Leu447Met)
c.1153C>A (p.Leu385Met)
n.1270C>A
13g.113118859C=CA2120142829F7c.1186C= (p.Leu396=)
c.1252C= (p.Leu418=)
c.1000C= (p.Leu334=)
n.1273C=
c.1045C= (p.Leu349=)
c.1294C= (p.Leu432=)
c.1108C= (p.Leu370=)
c.946C= (p.Leu316=)
c.1255C= (p.Leu419=)
c.1090C= (p.Leu364=)
c.1339C= (p.Leu447=)
c.1153C= (p.Leu385=)
n.1270C=
13g.113118859C>GCA388786929F7c.1186C>G (p.Leu396Val)
c.1252C>G (p.Leu418Val)
c.1000C>G (p.Leu334Val)
n.1273C>G
c.1045C>G (p.Leu349Val)
c.1294C>G (p.Leu432Val)
c.1108C>G (p.Leu370Val)
c.946C>G (p.Leu316Val)
c.1255C>G (p.Leu419Val)
c.1090C>G (p.Leu364Val)
c.1339C>G (p.Leu447Val)
c.1153C>G (p.Leu385Val)
n.1270C>G
13g.113118859C>TCA485021220F7c.1186C>T (p.Leu396=)
c.1252C>T (p.Leu418=)
c.1000C>T (p.Leu334=)
n.1273C>T
c.1045C>T (p.Leu349=)
c.1294C>T (p.Leu432=)
c.1108C>T (p.Leu370=)
c.946C>T (p.Leu316=)
c.1255C>T (p.Leu419=)
c.1090C>T (p.Leu364=)
c.1339C>T (p.Leu447=)
c.1153C>T (p.Leu385=)
n.1270C>T
 dbSNP gnomAD v2 gnomAD v4
13g.113118860T>ACA388786932F7c.1187T>A (p.Leu396Gln)
c.1253T>A (p.Leu418Gln)
c.1001T>A (p.Leu334Gln)
n.1274T>A
c.1046T>A (p.Leu349Gln)
c.1295T>A (p.Leu432Gln)
c.1109T>A (p.Leu370Gln)
c.947T>A (p.Leu316Gln)
c.1256T>A (p.Leu419Gln)
c.1091T>A (p.Leu364Gln)
c.1340T>A (p.Leu447Gln)
c.1154T>A (p.Leu385Gln)
n.1271T>A
13g.113118860T>CCA388786936F7c.1187T>C (p.Leu396Pro)
c.1253T>C (p.Leu418Pro)
c.1001T>C (p.Leu334Pro)
n.1274T>C
c.1046T>C (p.Leu349Pro)
c.1295T>C (p.Leu432Pro)
c.1109T>C (p.Leu370Pro)
c.947T>C (p.Leu316Pro)
c.1256T>C (p.Leu419Pro)
c.1091T>C (p.Leu364Pro)
c.1340T>C (p.Leu447Pro)
c.1154T>C (p.Leu385Pro)
n.1271T>C
13g.113118860T>GCA388786933F7c.1187T>G (p.Leu396Arg)
c.1253T>G (p.Leu418Arg)
c.1001T>G (p.Leu334Arg)
n.1274T>G
c.1046T>G (p.Leu349Arg)
c.1295T>G (p.Leu432Arg)
c.1109T>G (p.Leu370Arg)
c.947T>G (p.Leu316Arg)
c.1256T>G (p.Leu419Arg)
c.1091T>G (p.Leu364Arg)
c.1340T>G (p.Leu447Arg)
c.1154T>G (p.Leu385Arg)
n.1271T>G
13g.113118861G>ACA485021221F7c.1188G>A (p.Leu396=)
c.1254G>A (p.Leu418=)
c.1002G>A (p.Leu334=)
n.1275G>A
c.1047G>A (p.Leu349=)
c.1296G>A (p.Leu432=)
c.1110G>A (p.Leu370=)
c.948G>A (p.Leu316=)
c.1257G>A (p.Leu419=)
c.1092G>A (p.Leu364=)
c.1341G>A (p.Leu447=)
c.1155G>A (p.Leu385=)
n.1272G>A
 gnomAD v4
13g.113118861G>CCA485021222F7c.1188G>C (p.Leu396=)
c.1254G>C (p.Leu418=)
c.1002G>C (p.Leu334=)
n.1275G>C
c.1047G>C (p.Leu349=)
c.1296G>C (p.Leu432=)
c.1110G>C (p.Leu370=)
c.948G>C (p.Leu316=)
c.1257G>C (p.Leu419=)
c.1092G>C (p.Leu364=)
c.1341G>C (p.Leu447=)
c.1155G>C (p.Leu385=)
n.1272G>C
 COSMIC COSMIC
13g.113118861G>TCA485021223F7c.1188G>T (p.Leu396=)
c.1254G>T (p.Leu418=)
c.1002G>T (p.Leu334=)
n.1275G>T
c.1047G>T (p.Leu349=)
c.1296G>T (p.Leu432=)
c.1110G>T (p.Leu370=)
c.948G>T (p.Leu316=)
c.1257G>T (p.Leu419=)
c.1092G>T (p.Leu364=)
c.1341G>T (p.Leu447=)
c.1155G>T (p.Leu385=)
n.1272G>T
13g.113118861_113118862insGTCA2623809382F7c.1188_1189insGT (p.Thr397ValfsTer?)
c.1254_1255insGT (p.Thr419ValfsTer?)
c.1002_1003insGT (p.Thr335ValfsTer?)
n.1275_1276insGT
c.1047_1048insGT (p.Thr350ValfsTer?)
c.1296_1297insGT (p.Thr433ValfsTer?)
c.1110_1111insGT (p.Thr371ValfsTer?)
c.948_949insGT (p.Thr317ValfsTer?)
c.1257_1258insGT (p.Thr420ValfsTer?)
c.1092_1093insGT (p.Thr365ValfsTer?)
c.1341_1342insGT (p.Thr448ValfsTer?)
c.1155_1156insGT (p.Thr386ValfsTer?)
n.1272_1273insGT
 gnomAD v4
13g.113118862A>CCA388786939F7c.1189A>C (p.Thr397Pro)
c.1255A>C (p.Thr419Pro)
c.1003A>C (p.Thr335Pro)
n.1276A>C
c.1048A>C (p.Thr350Pro)
c.1297A>C (p.Thr433Pro)
c.1111A>C (p.Thr371Pro)
c.949A>C (p.Thr317Pro)
c.1258A>C (p.Thr420Pro)
c.1093A>C (p.Thr365Pro)
c.1342A>C (p.Thr448Pro)
c.1156A>C (p.Thr386Pro)
n.1273A>C
13g.113118862A>GCA388786940F7c.1189A>G (p.Thr397Ala)
c.1255A>G (p.Thr419Ala)
c.1003A>G (p.Thr335Ala)
n.1276A>G
c.1048A>G (p.Thr350Ala)
c.1297A>G (p.Thr433Ala)
c.1111A>G (p.Thr371Ala)
c.949A>G (p.Thr317Ala)
c.1258A>G (p.Thr420Ala)
c.1093A>G (p.Thr365Ala)
c.1342A>G (p.Thr448Ala)
c.1156A>G (p.Thr386Ala)
n.1273A>G
13g.113118862A>TCA388786942F7c.1189A>T (p.Thr397Ser)
c.1255A>T (p.Thr419Ser)
c.1003A>T (p.Thr335Ser)
n.1276A>T
c.1048A>T (p.Thr350Ser)
c.1297A>T (p.Thr433Ser)
c.1111A>T (p.Thr371Ser)
c.949A>T (p.Thr317Ser)
c.1258A>T (p.Thr420Ser)
c.1093A>T (p.Thr365Ser)
c.1342A>T (p.Thr448Ser)
c.1156A>T (p.Thr386Ser)
n.1273A>T
13g.113118863C>ACA388786945F7c.1190C>A (p.Thr397Lys)
c.1256C>A (p.Thr419Lys)
c.1004C>A (p.Thr335Lys)
n.1277C>A
c.1049C>A (p.Thr350Lys)
c.1298C>A (p.Thr433Lys)
c.1112C>A (p.Thr371Lys)
c.950C>A (p.Thr317Lys)
c.1259C>A (p.Thr420Lys)
c.1094C>A (p.Thr365Lys)
c.1343C>A (p.Thr448Lys)
c.1157C>A (p.Thr386Lys)
n.1274C>A
 gnomAD v4
13g.113118863C=CA2120142833F7c.1190C= (p.Thr397=)
c.1256C= (p.Thr419=)
c.1004C= (p.Thr335=)
n.1277C=
c.1049C= (p.Thr350=)
c.1298C= (p.Thr433=)
c.1112C= (p.Thr371=)
c.950C= (p.Thr317=)
c.1259C= (p.Thr420=)
c.1094C= (p.Thr365=)
c.1343C= (p.Thr448=)
c.1157C= (p.Thr386=)
n.1274C=
13g.113118863C>GCA388786947F7c.1190C>G (p.Thr397Arg)
c.1256C>G (p.Thr419Arg)
c.1004C>G (p.Thr335Arg)
n.1277C>G
c.1049C>G (p.Thr350Arg)
c.1298C>G (p.Thr433Arg)
c.1112C>G (p.Thr371Arg)
c.950C>G (p.Thr317Arg)
c.1259C>G (p.Thr420Arg)
c.1094C>G (p.Thr365Arg)
c.1343C>G (p.Thr448Arg)
c.1157C>G (p.Thr386Arg)
n.1274C>G
13g.113118863C>TCA7060246F7c.1190C>T (p.Thr397Met)
c.1256C>T (p.Thr419Met)
c.1004C>T (p.Thr335Met)
n.1277C>T
c.1049C>T (p.Thr350Met)
c.1298C>T (p.Thr433Met)
c.1112C>T (p.Thr371Met)
c.950C>T (p.Thr317Met)
c.1259C>T (p.Thr420Met)
c.1094C>T (p.Thr365Met)
c.1343C>T (p.Thr448Met)
c.1157C>T (p.Thr386Met)
n.1274C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched