Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.1753556_1753557delCA597430604CTSDc.1188_1189del (p.Phe397Ter)
c.1083_1084del (p.Phe362Ter)
c.613_614del
c.*354_*355del (n.*354_*355del)
c.1305_1306del (p.Phe436Ter)
c.1071+249_1071+250del (n.1071+249_1071+250del)
c.1167_1168del (p.Phe390Ter)
c.72+249_72+250del (n.72+249_72+250del)
c.1182_1183del (p.Phe395Ter)
n.786_787del
n.3616_3617del
c.1170_1171del (p.Phe391Ter)
c.1179_1180del (p.Phe394Ter)
n.496_497del
c.*1049_*1050del (n.*1049_*1050del)
c.471+249_471+250del (n.471+249_471+250del)
c.519_520del (p.Phe174Ter)
 dbSNP gnomAD v2 gnomAD v4
11g.1753561_1753562insCAATCACAGTGTCA2574736127CTSDc.1188_1189insATTGACACTGTG (p.Val396_Phe397insIleAspThrVal)
c.1083_1084insATTGACACTGTG (p.Val361_Phe362insIleAspThrVal)
c.613_614insATTGACACTGTG
c.*354_*355insATTGACACTGTG (n.*354_*355insATTGACACTGTG)
c.1305_1306insATTGACACTGTG (p.Val435_Phe436insIleAspThrVal)
c.1071+249_1071+250insATTGACACTGTG (n.1071+249_1071+250insATTGACACTGTG)
c.1167_1168insATTGACACTGTG (p.Val389_Phe390insIleAspThrVal)
c.72+249_72+250insATTGACACTGTG (n.72+249_72+250insATTGACACTGTG)
c.1182_1183insATTGACACTGTG (p.Val394_Phe395insIleAspThrVal)
n.786_787insATTGACACTGTG
n.3616_3617insATTGACACTGTG
c.1170_1171insATTGACACTGTG (p.Val390_Phe391insIleAspThrVal)
c.1179_1180insATTGACACTGTG (p.Val393_Phe394insIleAspThrVal)
n.496_497insATTGACACTGTG
c.*1049_*1050insATTGACACTGTG (n.*1049_*1050insATTGACACTGTG)
c.471+249_471+250insATTGACACTGTG (n.471+249_471+250insATTGACACTGTG)
c.519_520insATTGACACTGTG (p.Val173_Phe174insIleAspThrVal)
11g.1753556C>ACA379092411CTSDc.1186G>T (p.Val396Leu)
c.1081G>T (p.Val361Leu)
c.611G>T
c.*352G>T (n.*352G>T)
c.1303G>T (p.Val435Leu)
c.1071+247G>T (n.1071+247G>T)
c.1165G>T (p.Val389Leu)
c.72+247G>T (n.72+247G>T)
c.1180G>T (p.Val394Leu)
n.784G>T
n.3614G>T
c.1168G>T (p.Val390Leu)
c.1177G>T (p.Val393Leu)
n.494G>T
c.*1047G>T (n.*1047G>T)
c.471+247G>T (n.471+247G>T)
c.517G>T (p.Val173Leu)
11g.1753556C>GCA379092412CTSDc.1186G>C (p.Val396Leu)
c.1081G>C (p.Val361Leu)
c.611G>C
c.*352G>C (n.*352G>C)
c.1303G>C (p.Val435Leu)
c.1071+247G>C (n.1071+247G>C)
c.1165G>C (p.Val389Leu)
c.72+247G>C (n.72+247G>C)
c.1180G>C (p.Val394Leu)
n.784G>C
n.3614G>C
c.1168G>C (p.Val390Leu)
c.1177G>C (p.Val393Leu)
n.494G>C
c.*1047G>C (n.*1047G>C)
c.471+247G>C (n.471+247G>C)
c.517G>C (p.Val173Leu)
11g.1753556C>TCA379092413CTSDc.1186G>A (p.Val396Met)
c.1081G>A (p.Val361Met)
c.611G>A
c.*352G>A (n.*352G>A)
c.1303G>A (p.Val435Met)
c.1071+247G>A (n.1071+247G>A)
c.1165G>A (p.Val389Met)
c.72+247G>A (n.72+247G>A)
c.1180G>A (p.Val394Met)
n.784G>A
n.3614G>A
c.1168G>A (p.Val390Met)
c.1177G>A (p.Val393Met)
n.494G>A
c.*1047G>A (n.*1047G>A)
c.471+247G>A (n.471+247G>A)
c.517G>A (p.Val173Met)
11g.1753557A=CA1947825112CTSDc.1185T= (p.Thr395=)
c.1080T= (p.Thr360=)
c.610T=
c.*351T= (n.*351T=)
c.1302T= (p.Thr434=)
c.1071+246T= (n.1071+246T=)
c.1164T= (p.Thr388=)
c.72+246T= (n.72+246T=)
c.1179T= (p.Thr393=)
n.783T=
n.3613T=
c.1167T= (p.Thr389=)
c.1176T= (p.Thr392=)
n.493T=
c.*1046T= (n.*1046T=)
c.471+246T= (n.471+246T=)
c.516T= (p.Thr172=)
11g.1753557A>CCA472139769CTSDc.1185T>G (p.Thr395=)
c.1080T>G (p.Thr360=)
c.610T>G
c.*351T>G (n.*351T>G)
c.1302T>G (p.Thr434=)
c.1071+246T>G (n.1071+246T>G)
c.1164T>G (p.Thr388=)
c.72+246T>G (n.72+246T>G)
c.1179T>G (p.Thr393=)
n.783T>G
n.3613T>G
c.1167T>G (p.Thr389=)
c.1176T>G (p.Thr392=)
n.493T>G
c.*1046T>G (n.*1046T>G)
c.471+246T>G (n.471+246T>G)
c.516T>G (p.Thr172=)
 ClinVar dbSNP gnomAD v4
11g.1753557A>GCA472139772CTSDc.1185T>C (p.Thr395=)
c.1080T>C (p.Thr360=)
c.610T>C
c.*351T>C (n.*351T>C)
c.1302T>C (p.Thr434=)
c.1071+246T>C (n.1071+246T>C)
c.1164T>C (p.Thr388=)
c.72+246T>C (n.72+246T>C)
c.1179T>C (p.Thr393=)
n.783T>C
n.3613T>C
c.1167T>C (p.Thr389=)
c.1176T>C (p.Thr392=)
n.493T>C
c.*1046T>C (n.*1046T>C)
c.471+246T>C (n.471+246T>C)
c.516T>C (p.Thr172=)
 ClinVar gnomAD v4
11g.1753557A>TCA472139771CTSDc.1185T>A (p.Thr395=)
c.1080T>A (p.Thr360=)
c.610T>A
c.*351T>A (n.*351T>A)
c.1302T>A (p.Thr434=)
c.1071+246T>A (n.1071+246T>A)
c.1164T>A (p.Thr388=)
c.72+246T>A (n.72+246T>A)
c.1179T>A (p.Thr393=)
n.783T>A
n.3613T>A
c.1167T>A (p.Thr389=)
c.1176T>A (p.Thr392=)
n.493T>A
c.*1046T>A (n.*1046T>A)
c.471+246T>A (n.471+246T>A)
c.516T>A (p.Thr172=)
 gnomAD v4
11g.1753558G>ACA379092414CTSDc.1184C>T (p.Thr395Ile)
c.1079C>T (p.Thr360Ile)
c.609C>T
c.*350C>T (n.*350C>T)
c.1301C>T (p.Thr434Ile)
c.1071+245C>T (n.1071+245C>T)
c.1163C>T (p.Thr388Ile)
c.72+245C>T (n.72+245C>T)
c.1178C>T (p.Thr393Ile)
n.782C>T
n.3612C>T
c.1166C>T (p.Thr389Ile)
c.1175C>T (p.Thr392Ile)
n.492C>T
c.*1045C>T (n.*1045C>T)
c.471+245C>T (n.471+245C>T)
c.515C>T (p.Thr172Ile)
11g.1753558G>CCA379092415CTSDc.1184C>G (p.Thr395Ser)
c.1079C>G (p.Thr360Ser)
c.609C>G
c.*350C>G (n.*350C>G)
c.1301C>G (p.Thr434Ser)
c.1071+245C>G (n.1071+245C>G)
c.1163C>G (p.Thr388Ser)
c.72+245C>G (n.72+245C>G)
c.1178C>G (p.Thr393Ser)
n.782C>G
n.3612C>G
c.1166C>G (p.Thr389Ser)
c.1175C>G (p.Thr392Ser)
n.492C>G
c.*1045C>G (n.*1045C>G)
c.471+245C>G (n.471+245C>G)
c.515C>G (p.Thr172Ser)
11g.1753558G>TCA379092416CTSDc.1184C>A (p.Thr395Asn)
c.1079C>A (p.Thr360Asn)
c.609C>A
c.*350C>A (n.*350C>A)
c.1301C>A (p.Thr434Asn)
c.1071+245C>A (n.1071+245C>A)
c.1163C>A (p.Thr388Asn)
c.72+245C>A (n.72+245C>A)
c.1178C>A (p.Thr393Asn)
n.782C>A
n.3612C>A
c.1166C>A (p.Thr389Asn)
c.1175C>A (p.Thr392Asn)
n.492C>A
c.*1045C>A (n.*1045C>A)
c.471+245C>A (n.471+245C>A)
c.515C>A (p.Thr172Asn)
11g.1753559T>ACA379092418CTSDc.1183A>T (p.Thr395Ser)
c.1078A>T (p.Thr360Ser)
c.608A>T
c.*349A>T (n.*349A>T)
c.1300A>T (p.Thr434Ser)
c.1071+244A>T (n.1071+244A>T)
c.1162A>T (p.Thr388Ser)
c.72+244A>T (n.72+244A>T)
c.1177A>T (p.Thr393Ser)
n.781A>T
n.3611A>T
c.1165A>T (p.Thr389Ser)
c.1174A>T (p.Thr392Ser)
n.491A>T
c.*1044A>T (n.*1044A>T)
c.471+244A>T (n.471+244A>T)
c.514A>T (p.Thr172Ser)
 gnomAD v4
11g.1753559T>CCA5813878CTSDc.1183A>G (p.Thr395Ala)
c.1078A>G (p.Thr360Ala)
c.608A>G
c.*349A>G (n.*349A>G)
c.1300A>G (p.Thr434Ala)
c.1071+244A>G (n.1071+244A>G)
c.1162A>G (p.Thr388Ala)
c.72+244A>G (n.72+244A>G)
c.1177A>G (p.Thr393Ala)
n.781A>G
n.3611A>G
c.1165A>G (p.Thr389Ala)
c.1174A>G (p.Thr392Ala)
n.491A>G
c.*1044A>G (n.*1044A>G)
c.471+244A>G (n.471+244A>G)
c.514A>G (p.Thr172Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1753559T>GCA379092417CTSDc.1183A>C (p.Thr395Pro)
c.1078A>C (p.Thr360Pro)
c.608A>C
c.*349A>C (n.*349A>C)
c.1300A>C (p.Thr434Pro)
c.1071+244A>C (n.1071+244A>C)
c.1162A>C (p.Thr388Pro)
c.72+244A>C (n.72+244A>C)
c.1177A>C (p.Thr393Pro)
n.781A>C
n.3611A>C
c.1165A>C (p.Thr389Pro)
c.1174A>C (p.Thr392Pro)
n.491A>C
c.*1044A>C (n.*1044A>C)
c.471+244A>C (n.471+244A>C)
c.514A>C (p.Thr172Pro)
11g.1753559T=CA1947825113CTSDc.1183A= (p.Thr395=)
c.1078A= (p.Thr360=)
c.608A=
c.*349A= (n.*349A=)
c.1300A= (p.Thr434=)
c.1071+244A= (n.1071+244A=)
c.1162A= (p.Thr388=)
c.72+244A= (n.72+244A=)
c.1177A= (p.Thr393=)
n.781A=
n.3611A=
c.1165A= (p.Thr389=)
c.1174A= (p.Thr392=)
n.491A=
c.*1044A= (n.*1044A=)
c.471+244A= (n.471+244A=)
c.514A= (p.Thr172=)
11g.1753560G>ACA216168559CTSDc.1182C>T (p.Tyr394=)
c.1077C>T (p.Tyr359=)
c.607C>T
c.*348C>T (n.*348C>T)
c.1299C>T (p.Tyr433=)
c.1071+243C>T (n.1071+243C>T)
c.1161C>T (p.Tyr387=)
c.72+243C>T (n.72+243C>T)
c.1176C>T (p.Tyr392=)
n.780C>T
n.3610C>T
c.1164C>T (p.Tyr388=)
c.1173C>T (p.Tyr391=)
n.490C>T
c.*1043C>T (n.*1043C>T)
c.471+243C>T (n.471+243C>T)
c.513C>T (p.Tyr171=)
 ClinVar dbSNP
11g.1753560G>CCA379092420CTSDc.1182C>G (p.Tyr394Ter)
c.1077C>G (p.Tyr359Ter)
c.607C>G
c.*348C>G (n.*348C>G)
c.1299C>G (p.Tyr433Ter)
c.1071+243C>G (n.1071+243C>G)
c.1161C>G (p.Tyr387Ter)
c.72+243C>G (n.72+243C>G)
c.1176C>G (p.Tyr392Ter)
n.780C>G
n.3610C>G
c.1164C>G (p.Tyr388Ter)
c.1173C>G (p.Tyr391Ter)
n.490C>G
c.*1043C>G (n.*1043C>G)
c.471+243C>G (n.471+243C>G)
c.513C>G (p.Tyr171Ter)
11g.1753560G=CA1947825114CTSDc.1182C= (p.Tyr394=)
c.1077C= (p.Tyr359=)
c.607C=
c.*348C= (n.*348C=)
c.1299C= (p.Tyr433=)
c.1071+243C= (n.1071+243C=)
c.1161C= (p.Tyr387=)
c.72+243C= (n.72+243C=)
c.1176C= (p.Tyr392=)
n.780C=
n.3610C=
c.1164C= (p.Tyr388=)
c.1173C= (p.Tyr391=)
n.490C=
c.*1043C= (n.*1043C=)
c.471+243C= (n.471+243C=)
c.513C= (p.Tyr171=)
11g.1753560G>TCA379092421CTSDc.1182C>A (p.Tyr394Ter)
c.1077C>A (p.Tyr359Ter)
c.607C>A
c.*348C>A (n.*348C>A)
c.1299C>A (p.Tyr433Ter)
c.1071+243C>A (n.1071+243C>A)
c.1161C>A (p.Tyr387Ter)
c.72+243C>A (n.72+243C>A)
c.1176C>A (p.Tyr392Ter)
n.780C>A
n.3610C>A
c.1164C>A (p.Tyr388Ter)
c.1173C>A (p.Tyr391Ter)
n.490C>A
c.*1043C>A (n.*1043C>A)
c.471+243C>A (n.471+243C>A)
c.513C>A (p.Tyr171Ter)
11g.1753561T>ACA379092422CTSDc.1181A>T (p.Tyr394Phe)
c.1076A>T (p.Tyr359Phe)
c.606A>T
c.*347A>T (n.*347A>T)
c.1298A>T (p.Tyr433Phe)
c.1071+242A>T (n.1071+242A>T)
c.1160A>T (p.Tyr387Phe)
c.72+242A>T (n.72+242A>T)
c.1175A>T (p.Tyr392Phe)
n.779A>T
n.3609A>T
c.1163A>T (p.Tyr388Phe)
c.1172A>T (p.Tyr391Phe)
n.489A>T
c.*1042A>T (n.*1042A>T)
c.471+242A>T (n.471+242A>T)
c.512A>T (p.Tyr171Phe)
11g.1753561T>CCA379092423CTSDc.1181A>G (p.Tyr394Cys)
c.1076A>G (p.Tyr359Cys)
c.606A>G
c.*347A>G (n.*347A>G)
c.1298A>G (p.Tyr433Cys)
c.1071+242A>G (n.1071+242A>G)
c.1160A>G (p.Tyr387Cys)
c.72+242A>G (n.72+242A>G)
c.1175A>G (p.Tyr392Cys)
n.779A>G
n.3609A>G
c.1163A>G (p.Tyr388Cys)
c.1172A>G (p.Tyr391Cys)
n.489A>G
c.*1042A>G (n.*1042A>G)
c.471+242A>G (n.471+242A>G)
c.512A>G (p.Tyr171Cys)
 gnomAD v4
11g.1753561T>GCA379092424CTSDc.1181A>C (p.Tyr394Ser)
c.1076A>C (p.Tyr359Ser)
c.606A>C
c.*347A>C (n.*347A>C)
c.1298A>C (p.Tyr433Ser)
c.1071+242A>C (n.1071+242A>C)
c.1160A>C (p.Tyr387Ser)
c.72+242A>C (n.72+242A>C)
c.1175A>C (p.Tyr392Ser)
n.779A>C
n.3609A>C
c.1163A>C (p.Tyr388Ser)
c.1172A>C (p.Tyr391Ser)
n.489A>C
c.*1042A>C (n.*1042A>C)
c.471+242A>C (n.471+242A>C)
c.512A>C (p.Tyr171Ser)
11g.1753562A>CCA379092425CTSDc.1180T>G (p.Tyr394Asp)
c.1075T>G (p.Tyr359Asp)
c.605T>G
c.*346T>G (n.*346T>G)
c.1297T>G (p.Tyr433Asp)
c.1071+241T>G (n.1071+241T>G)
c.1159T>G (p.Tyr387Asp)
c.72+241T>G (n.72+241T>G)
c.1174T>G (p.Tyr392Asp)
n.778T>G
n.3608T>G
c.1162T>G (p.Tyr388Asp)
c.1171T>G (p.Tyr391Asp)
n.488T>G
c.*1041T>G (n.*1041T>G)
c.471+241T>G (n.471+241T>G)
c.511T>G (p.Tyr171Asp)
11g.1753562A>GCA379092427CTSDc.1180T>C (p.Tyr394His)
c.1075T>C (p.Tyr359His)
c.605T>C
c.*346T>C (n.*346T>C)
c.1297T>C (p.Tyr433His)
c.1071+241T>C (n.1071+241T>C)
c.1159T>C (p.Tyr387His)
c.72+241T>C (n.72+241T>C)
c.1174T>C (p.Tyr392His)
n.778T>C
n.3608T>C
c.1162T>C (p.Tyr388His)
c.1171T>C (p.Tyr391His)
n.488T>C
c.*1041T>C (n.*1041T>C)
c.471+241T>C (n.471+241T>C)
c.511T>C (p.Tyr171His)
11g.1753562A>TCA379092426CTSDc.1180T>A (p.Tyr394Asn)
c.1075T>A (p.Tyr359Asn)
c.605T>A
c.*346T>A (n.*346T>A)
c.1297T>A (p.Tyr433Asn)
c.1071+241T>A (n.1071+241T>A)
c.1159T>A (p.Tyr387Asn)
c.72+241T>A (n.72+241T>A)
c.1174T>A (p.Tyr392Asn)
n.778T>A
n.3608T>A
c.1162T>A (p.Tyr388Asn)
c.1171T>A (p.Tyr391Asn)
n.488T>A
c.*1041T>A (n.*1041T>A)
c.471+241T>A (n.471+241T>A)
c.511T>A (p.Tyr171Asn)
 gnomAD v4
11g.1753563G>ACA472139809CTSDc.1179C>T (p.Tyr393=)
c.1074C>T (p.Tyr358=)
c.604C>T
c.*345C>T (n.*345C>T)
c.1296C>T (p.Tyr432=)
c.1071+240C>T (n.1071+240C>T)
c.1158C>T (p.Tyr386=)
c.72+240C>T (n.72+240C>T)
c.1173C>T (p.Tyr391=)
n.777C>T
n.3607C>T
c.1161C>T (p.Tyr387=)
c.1170C>T (p.Tyr390=)
n.487C>T
c.*1040C>T (n.*1040C>T)
c.471+240C>T (n.471+240C>T)
c.510C>T (p.Tyr170=)
11g.1753563G>CCA379092428CTSDc.1179C>G (p.Tyr393Ter)
c.1074C>G (p.Tyr358Ter)
c.604C>G
c.*345C>G (n.*345C>G)
c.1296C>G (p.Tyr432Ter)
c.1071+240C>G (n.1071+240C>G)
c.1158C>G (p.Tyr386Ter)
c.72+240C>G (n.72+240C>G)
c.1173C>G (p.Tyr391Ter)
n.777C>G
n.3607C>G
c.1161C>G (p.Tyr387Ter)
c.1170C>G (p.Tyr390Ter)
n.487C>G
c.*1040C>G (n.*1040C>G)
c.471+240C>G (n.471+240C>G)
c.510C>G (p.Tyr170Ter)
11g.1753563G>TCA379092429CTSDc.1179C>A (p.Tyr393Ter)
c.1074C>A (p.Tyr358Ter)
c.604C>A
c.*345C>A (n.*345C>A)
c.1296C>A (p.Tyr432Ter)
c.1071+240C>A (n.1071+240C>A)
c.1158C>A (p.Tyr386Ter)
c.72+240C>A (n.72+240C>A)
c.1173C>A (p.Tyr391Ter)
n.777C>A
n.3607C>A
c.1161C>A (p.Tyr387Ter)
c.1170C>A (p.Tyr390Ter)
n.487C>A
c.*1040C>A (n.*1040C>A)
c.471+240C>A (n.471+240C>A)
c.510C>A (p.Tyr170Ter)
11g.1753564T>ACA379092431CTSDc.1178A>T (p.Tyr393Phe)
c.1073A>T (p.Tyr358Phe)
c.603A>T
c.*344A>T (n.*344A>T)
c.1295A>T (p.Tyr432Phe)
c.1071+239A>T (n.1071+239A>T)
c.1157A>T (p.Tyr386Phe)
c.72+239A>T (n.72+239A>T)
c.1172A>T (p.Tyr391Phe)
n.776A>T
n.3606A>T
c.1160A>T (p.Tyr387Phe)
c.1169A>T (p.Tyr390Phe)
n.486A>T
c.*1039A>T (n.*1039A>T)
c.471+239A>T (n.471+239A>T)
c.509A>T (p.Tyr170Phe)
11g.1753564T>CCA379092432CTSDc.1178A>G (p.Tyr393Cys)
c.1073A>G (p.Tyr358Cys)
c.603A>G
c.*344A>G (n.*344A>G)
c.1295A>G (p.Tyr432Cys)
c.1071+239A>G (n.1071+239A>G)
c.1157A>G (p.Tyr386Cys)
c.72+239A>G (n.72+239A>G)
c.1172A>G (p.Tyr391Cys)
n.776A>G
n.3606A>G
c.1160A>G (p.Tyr387Cys)
c.1169A>G (p.Tyr390Cys)
n.486A>G
c.*1039A>G (n.*1039A>G)
c.471+239A>G (n.471+239A>G)
c.509A>G (p.Tyr170Cys)
 COSMIC
11g.1753564T>GCA379092433CTSDc.1178A>C (p.Tyr393Ser)
c.1073A>C (p.Tyr358Ser)
c.603A>C
c.*344A>C (n.*344A>C)
c.1295A>C (p.Tyr432Ser)
c.1071+239A>C (n.1071+239A>C)
c.1157A>C (p.Tyr386Ser)
c.72+239A>C (n.72+239A>C)
c.1172A>C (p.Tyr391Ser)
n.776A>C
n.3606A>C
c.1160A>C (p.Tyr387Ser)
c.1169A>C (p.Tyr390Ser)
n.486A>C
c.*1039A>C (n.*1039A>C)
c.471+239A>C (n.471+239A>C)
c.509A>C (p.Tyr170Ser)
11g.1753565A>CCA379092434CTSDc.1177T>G (p.Tyr393Asp)
c.1072T>G (p.Tyr358Asp)
c.602T>G
c.*343T>G (n.*343T>G)
c.1294T>G (p.Tyr432Asp)
c.1071+238T>G (n.1071+238T>G)
c.1156T>G (p.Tyr386Asp)
c.72+238T>G (n.72+238T>G)
c.1171T>G (p.Tyr391Asp)
n.775T>G
n.3605T>G
c.1159T>G (p.Tyr387Asp)
c.1168T>G (p.Tyr390Asp)
n.485T>G
c.*1038T>G (n.*1038T>G)
c.471+238T>G (n.471+238T>G)
c.508T>G (p.Tyr170Asp)
11g.1753565A>GCA379092435CTSDc.1177T>C (p.Tyr393His)
c.1072T>C (p.Tyr358His)
c.602T>C
c.*343T>C (n.*343T>C)
c.1294T>C (p.Tyr432His)
c.1071+238T>C (n.1071+238T>C)
c.1156T>C (p.Tyr386His)
c.72+238T>C (n.72+238T>C)
c.1171T>C (p.Tyr391His)
n.775T>C
n.3605T>C
c.1159T>C (p.Tyr387His)
c.1168T>C (p.Tyr390His)
n.485T>C
c.*1038T>C (n.*1038T>C)
c.471+238T>C (n.471+238T>C)
c.508T>C (p.Tyr170His)
11g.1753565A>TCA379092436CTSDc.1177T>A (p.Tyr393Asn)
c.1072T>A (p.Tyr358Asn)
c.602T>A
c.*343T>A (n.*343T>A)
c.1294T>A (p.Tyr432Asn)
c.1071+238T>A (n.1071+238T>A)
c.1156T>A (p.Tyr386Asn)
c.72+238T>A (n.72+238T>A)
c.1171T>A (p.Tyr391Asn)
n.775T>A
n.3605T>A
c.1159T>A (p.Tyr387Asn)
c.1168T>A (p.Tyr390Asn)
n.485T>A
c.*1038T>A (n.*1038T>A)
c.471+238T>A (n.471+238T>A)
c.508T>A (p.Tyr170Asn)
11g.1753565_1753567delinsAGCCA1947825115CTSDc.1175_1177delinsGCT (p.Arg392=)
c.1070_1072delinsGCT (p.Arg357=)
c.600_602delinsGCT
c.*341_*343delinsGCT (n.*341_*343delinsGCT)
c.1292_1294delinsGCT (p.Arg431=)
c.1071+236_1071+238delinsGCT (n.1071+236_1071+238delinsGCT)
c.1154_1156delinsGCT (p.Arg385=)
c.72+236_72+238delinsGCT (n.72+236_72+238delinsGCT)
c.1169_1171delinsGCT (p.Arg390=)
n.773_775delinsGCT
n.3603_3605delinsGCT
c.1157_1159delinsGCT (p.Arg386=)
c.1166_1168delinsGCT (p.Arg389=)
n.483_485delinsGCT
c.*1036_*1038delinsGCT (n.*1036_*1038delinsGCT)
c.471+236_471+238delinsGCT (n.471+236_471+238delinsGCT)
c.506_508delinsGCT (p.Arg169=)
11g.1753566G>ACA472139822CTSDc.1176C>T (p.Arg392=)
c.1071C>T (p.Arg357=)
c.601C>T
c.*342C>T (n.*342C>T)
c.1293C>T (p.Arg431=)
c.1071+237C>T (n.1071+237C>T)
c.1155C>T (p.Arg385=)
c.72+237C>T (n.72+237C>T)
c.1170C>T (p.Arg390=)
n.774C>T
n.3604C>T
c.1158C>T (p.Arg386=)
c.1167C>T (p.Arg389=)
n.484C>T
c.*1037C>T (n.*1037C>T)
c.471+237C>T (n.471+237C>T)
c.507C>T (p.Arg169=)
11g.1753566G>CCA472139824CTSDc.1176C>G (p.Arg392=)
c.1071C>G (p.Arg357=)
c.601C>G
c.*342C>G (n.*342C>G)
c.1293C>G (p.Arg431=)
c.1071+237C>G (n.1071+237C>G)
c.1155C>G (p.Arg385=)
c.72+237C>G (n.72+237C>G)
c.1170C>G (p.Arg390=)
n.774C>G
n.3604C>G
c.1158C>G (p.Arg386=)
c.1167C>G (p.Arg389=)
n.484C>G
c.*1037C>G (n.*1037C>G)
c.471+237C>G (n.471+237C>G)
c.507C>G (p.Arg169=)
11g.1753566G>TCA472139826CTSDc.1176C>A (p.Arg392=)
c.1071C>A (p.Arg357=)
c.601C>A
c.*342C>A (n.*342C>A)
c.1293C>A (p.Arg431=)
c.1071+237C>A (n.1071+237C>A)
c.1155C>A (p.Arg385=)
c.72+237C>A (n.72+237C>A)
c.1170C>A (p.Arg390=)
n.774C>A
n.3604C>A
c.1158C>A (p.Arg386=)
c.1167C>A (p.Arg389=)
n.484C>A
c.*1037C>A (n.*1037C>A)
c.471+237C>A (n.471+237C>A)
c.507C>A (p.Arg169=)
 ClinVar
11g.1753567_1753568delCA918804390CTSDc.1175_1176del (p.Arg392LeufsTer6)
c.1070_1071del (p.Arg357LeufsTer6)
c.600_601del
c.*341_*342del (n.*341_*342del)
c.1292_1293del (p.Arg431LeufsTer6)
c.1071+236_1071+237del (n.1071+236_1071+237del)
c.1154_1155del (p.Arg385LeufsTer6)
c.72+236_72+237del (n.72+236_72+237del)
c.1169_1170del (p.Arg390LeufsTer6)
n.773_774del
n.3603_3604del
c.1157_1158del (p.Arg386LeufsTer6)
c.1166_1167del (p.Arg389LeufsTer6)
n.483_484del
c.*1036_*1037del (n.*1036_*1037del)
c.471+236_471+237del (n.471+236_471+237del)
c.506_507del (p.Arg169LeufsTer6)
 dbSNP
11g.1753567C>ACA216168582CTSDc.1175G>T (p.Arg392Leu)
c.1070G>T (p.Arg357Leu)
c.600G>T
c.*341G>T (n.*341G>T)
c.1292G>T (p.Arg431Leu)
c.1071+236G>T (n.1071+236G>T)
c.1154G>T (p.Arg385Leu)
c.72+236G>T (n.72+236G>T)
c.1169G>T (p.Arg390Leu)
n.773G>T
n.3603G>T
c.1157G>T (p.Arg386Leu)
c.1166G>T (p.Arg389Leu)
n.483G>T
c.*1036G>T (n.*1036G>T)
c.471+236G>T (n.471+236G>T)
c.506G>T (p.Arg169Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.1753567C=CA1947825116CTSDc.1175G= (p.Arg392=)
c.1070G= (p.Arg357=)
c.600G=
c.*341G= (n.*341G=)
c.1292G= (p.Arg431=)
c.1071+236G= (n.1071+236G=)
c.1154G= (p.Arg385=)
c.72+236G= (n.72+236G=)
c.1169G= (p.Arg390=)
n.773G=
n.3603G=
c.1157G= (p.Arg386=)
c.1166G= (p.Arg389=)
n.483G=
c.*1036G= (n.*1036G=)
c.471+236G= (n.471+236G=)
c.506G= (p.Arg169=)
11g.1753567C>GCA379092437CTSDc.1175G>C (p.Arg392Pro)
c.1070G>C (p.Arg357Pro)
c.600G>C
c.*341G>C (n.*341G>C)
c.1292G>C (p.Arg431Pro)
c.1071+236G>C (n.1071+236G>C)
c.1154G>C (p.Arg385Pro)
c.72+236G>C (n.72+236G>C)
c.1169G>C (p.Arg390Pro)
n.773G>C
n.3603G>C
c.1157G>C (p.Arg386Pro)
c.1166G>C (p.Arg389Pro)
n.483G>C
c.*1036G>C (n.*1036G>C)
c.471+236G>C (n.471+236G>C)
c.506G>C (p.Arg169Pro)
11g.1753567C>TCA314332CTSDc.1175G>A (p.Arg392His)
c.1070G>A (p.Arg357His)
c.600G>A
c.*341G>A (n.*341G>A)
c.1292G>A (p.Arg431His)
c.1071+236G>A (n.1071+236G>A)
c.1154G>A (p.Arg385His)
c.72+236G>A (n.72+236G>A)
c.1169G>A (p.Arg390His)
n.773G>A
n.3603G>A
c.1157G>A (p.Arg386His)
c.1166G>A (p.Arg389His)
n.483G>A
c.*1036G>A (n.*1036G>A)
c.471+236G>A (n.471+236G>A)
c.506G>A (p.Arg169His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.1753568G>ACA5813879CTSDc.1174C>T (p.Arg392Cys)
c.1069C>T (p.Arg357Cys)
c.599C>T
c.*340C>T (n.*340C>T)
c.1291C>T (p.Arg431Cys)
c.1071+235C>T (n.1071+235C>T)
c.1153C>T (p.Arg385Cys)
c.72+235C>T (n.72+235C>T)
c.1168C>T (p.Arg390Cys)
n.772C>T
n.3602C>T
c.1156C>T (p.Arg386Cys)
c.1165C>T (p.Arg389Cys)
n.482C>T
c.*1035C>T (n.*1035C>T)
c.471+235C>T (n.471+235C>T)
c.505C>T (p.Arg169Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.1753568G>CCA379092439CTSDc.1174C>G (p.Arg392Gly)
c.1069C>G (p.Arg357Gly)
c.599C>G
c.*340C>G (n.*340C>G)
c.1291C>G (p.Arg431Gly)
c.1071+235C>G (n.1071+235C>G)
c.1153C>G (p.Arg385Gly)
c.72+235C>G (n.72+235C>G)
c.1168C>G (p.Arg390Gly)
n.772C>G
n.3602C>G
c.1156C>G (p.Arg386Gly)
c.1165C>G (p.Arg389Gly)
n.482C>G
c.*1035C>G (n.*1035C>G)
c.471+235C>G (n.471+235C>G)
c.505C>G (p.Arg169Gly)
11g.1753568G=CA1947825117CTSDc.1174C= (p.Arg392=)
c.1069C= (p.Arg357=)
c.599C=
c.*340C= (n.*340C=)
c.1291C= (p.Arg431=)
c.1071+235C= (n.1071+235C=)
c.1153C= (p.Arg385=)
c.72+235C= (n.72+235C=)
c.1168C= (p.Arg390=)
n.772C=
n.3602C=
c.1156C= (p.Arg386=)
c.1165C= (p.Arg389=)
n.482C=
c.*1035C= (n.*1035C=)
c.471+235C= (n.471+235C=)
c.505C= (p.Arg169=)
11g.1753568G>TCA379092438CTSDc.1174C>A (p.Arg392Ser)
c.1069C>A (p.Arg357Ser)
c.599C>A
c.*340C>A (n.*340C>A)
c.1291C>A (p.Arg431Ser)
c.1071+235C>A (n.1071+235C>A)
c.1153C>A (p.Arg385Ser)
c.72+235C>A (n.72+235C>A)
c.1168C>A (p.Arg390Ser)
n.772C>A
n.3602C>A
c.1156C>A (p.Arg386Ser)
c.1165C>A (p.Arg389Ser)
n.482C>A
c.*1035C>A (n.*1035C>A)
c.471+235C>A (n.471+235C>A)
c.505C>A (p.Arg169Ser)
11g.1753569G>ACA472139836CTSDc.1173C>T (p.Gly391=)
c.1068C>T (p.Gly356=)
c.598C>T
c.*339C>T (n.*339C>T)
c.1290C>T (p.Gly430=)
c.1071+234C>T (n.1071+234C>T)
c.1152C>T (p.Gly384=)
c.72+234C>T (n.72+234C>T)
c.1167C>T (p.Gly389=)
n.771C>T
n.3601C>T
c.1155C>T (p.Gly385=)
c.1164C>T (p.Gly388=)
n.481C>T
c.*1034C>T (n.*1034C>T)
c.471+234C>T (n.471+234C>T)
c.504C>T (p.Gly168=)
11g.1753569G>CCA472139838CTSDc.1173C>G (p.Gly391=)
c.1068C>G (p.Gly356=)
c.598C>G
c.*339C>G (n.*339C>G)
c.1290C>G (p.Gly430=)
c.1071+234C>G (n.1071+234C>G)
c.1152C>G (p.Gly384=)
c.72+234C>G (n.72+234C>G)
c.1167C>G (p.Gly389=)
n.771C>G
n.3601C>G
c.1155C>G (p.Gly385=)
c.1164C>G (p.Gly388=)
n.481C>G
c.*1034C>G (n.*1034C>G)
c.471+234C>G (n.471+234C>G)
c.504C>G (p.Gly168=)
11g.1753569G=CA1947825118CTSDc.1173C= (p.Gly391=)
c.1068C= (p.Gly356=)
c.598C=
c.*339C= (n.*339C=)
c.1290C= (p.Gly430=)
c.1071+234C= (n.1071+234C=)
c.1152C= (p.Gly384=)
c.72+234C= (n.72+234C=)
c.1167C= (p.Gly389=)
n.771C=
n.3601C=
c.1155C= (p.Gly385=)
c.1164C= (p.Gly388=)
n.481C=
c.*1034C= (n.*1034C=)
c.471+234C= (n.471+234C=)
c.504C= (p.Gly168=)
11g.1753569G>TCA472139840CTSDc.1173C>A (p.Gly391=)
c.1068C>A (p.Gly356=)
c.598C>A
c.*339C>A (n.*339C>A)
c.1290C>A (p.Gly430=)
c.1071+234C>A (n.1071+234C>A)
c.1152C>A (p.Gly384=)
c.72+234C>A (n.72+234C>A)
c.1167C>A (p.Gly389=)
n.771C>A
n.3601C>A
c.1155C>A (p.Gly385=)
c.1164C>A (p.Gly388=)
n.481C>A
c.*1034C>A (n.*1034C>A)
c.471+234C>A (n.471+234C>A)
c.504C>A (p.Gly168=)
11g.1753569_1753570insAACA918804391CTSDc.1172_1173insTT (p.Arg392SerfsTer?)
c.1067_1068insTT (p.Arg357SerfsTer?)
c.597_598insTT
c.*338_*339insTT (n.*338_*339insTT)
c.1289_1290insTT (p.Arg431SerfsTer?)
c.1071+233_1071+234insTT (n.1071+233_1071+234insTT)
c.1151_1152insTT (p.Arg385SerfsTer?)
c.72+233_72+234insTT (n.72+233_72+234insTT)
c.1166_1167insTT (p.Arg390SerfsTer?)
n.770_771insTT
n.3600_3601insTT
c.1154_1155insTT (p.Arg386SerfsTer?)
c.1163_1164insTT (p.Arg389SerfsTer?)
n.480_481insTT
c.*1033_*1034insTT (n.*1033_*1034insTT)
c.471+233_471+234insTT (n.471+233_471+234insTT)
c.503_504insTT (p.Arg169SerfsTer?)
 dbSNP
11g.1753570C>ACA379092440CTSDc.1172G>T (p.Gly391Val)
c.1067G>T (p.Gly356Val)
c.597G>T
c.*338G>T (n.*338G>T)
c.1289G>T (p.Gly430Val)
c.1071+233G>T (n.1071+233G>T)
c.1151G>T (p.Gly384Val)
c.72+233G>T (n.72+233G>T)
c.1166G>T (p.Gly389Val)
n.770G>T
n.3600G>T
c.1154G>T (p.Gly385Val)
c.1163G>T (p.Gly388Val)
n.480G>T
c.*1033G>T (n.*1033G>T)
c.471+233G>T (n.471+233G>T)
c.503G>T (p.Gly168Val)
11g.1753570C>GCA379092442CTSDc.1172G>C (p.Gly391Ala)
c.1067G>C (p.Gly356Ala)
c.597G>C
c.*338G>C (n.*338G>C)
c.1289G>C (p.Gly430Ala)
c.1071+233G>C (n.1071+233G>C)
c.1151G>C (p.Gly384Ala)
c.72+233G>C (n.72+233G>C)
c.1166G>C (p.Gly389Ala)
n.770G>C
n.3600G>C
c.1154G>C (p.Gly385Ala)
c.1163G>C (p.Gly388Ala)
n.480G>C
c.*1033G>C (n.*1033G>C)
c.471+233G>C (n.471+233G>C)
c.503G>C (p.Gly168Ala)
 gnomAD v4
11g.1753570C>TCA379092441CTSDc.1172G>A (p.Gly391Asp)
c.1067G>A (p.Gly356Asp)
c.597G>A
c.*338G>A (n.*338G>A)
c.1289G>A (p.Gly430Asp)
c.1071+233G>A (n.1071+233G>A)
c.1151G>A (p.Gly384Asp)
c.72+233G>A (n.72+233G>A)
c.1166G>A (p.Gly389Asp)
n.770G>A
n.3600G>A
c.1154G>A (p.Gly385Asp)
c.1163G>A (p.Gly388Asp)
n.480G>A
c.*1033G>A (n.*1033G>A)
c.471+233G>A (n.471+233G>A)
c.503G>A (p.Gly168Asp)
 gnomAD v4
11g.1753571C>ACA379092443CTSDc.1171G>T (p.Gly391Cys)
c.1066G>T (p.Gly356Cys)
c.596G>T
c.*337G>T (n.*337G>T)
c.1288G>T (p.Gly430Cys)
c.1071+232G>T (n.1071+232G>T)
c.1150G>T (p.Gly384Cys)
c.72+232G>T (n.72+232G>T)
c.1165G>T (p.Gly389Cys)
n.769G>T
n.3599G>T
c.1153G>T (p.Gly385Cys)
c.1162G>T (p.Gly388Cys)
n.479G>T
c.*1032G>T (n.*1032G>T)
c.471+232G>T (n.471+232G>T)
c.502G>T (p.Gly168Cys)
11g.1753571C=CA1947825119CTSDc.1171G= (p.Gly391=)
c.1066G= (p.Gly356=)
c.596G=
c.*337G= (n.*337G=)
c.1288G= (p.Gly430=)
c.1071+232G= (n.1071+232G=)
c.1150G= (p.Gly384=)
c.72+232G= (n.72+232G=)
c.1165G= (p.Gly389=)
n.769G=
n.3599G=
c.1153G= (p.Gly385=)
c.1162G= (p.Gly388=)
n.479G=
c.*1032G= (n.*1032G=)
c.471+232G= (n.471+232G=)
c.502G= (p.Gly168=)
11g.1753571C>GCA379092445CTSDc.1171G>C (p.Gly391Arg)
c.1066G>C (p.Gly356Arg)
c.596G>C
c.*337G>C (n.*337G>C)
c.1288G>C (p.Gly430Arg)
c.1071+232G>C (n.1071+232G>C)
c.1150G>C (p.Gly384Arg)
c.72+232G>C (n.72+232G>C)
c.1165G>C (p.Gly389Arg)
n.769G>C
n.3599G>C
c.1153G>C (p.Gly385Arg)
c.1162G>C (p.Gly388Arg)
n.479G>C
c.*1032G>C (n.*1032G>C)
c.471+232G>C (n.471+232G>C)
c.502G>C (p.Gly168Arg)
11g.1753571C>TCA5813880CTSDc.1171G>A (p.Gly391Ser)
c.1066G>A (p.Gly356Ser)
c.596G>A
c.*337G>A (n.*337G>A)
c.1288G>A (p.Gly430Ser)
c.1071+232G>A (n.1071+232G>A)
c.1150G>A (p.Gly384Ser)
c.72+232G>A (n.72+232G>A)
c.1165G>A (p.Gly389Ser)
n.769G>A
n.3599G>A
c.1153G>A (p.Gly385Ser)
c.1162G>A (p.Gly388Ser)
n.479G>A
c.*1032G>A (n.*1032G>A)
c.471+232G>A (n.471+232G>A)
c.502G>A (p.Gly168Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.1753572G>ACA5813881CTSDc.1170C>T (p.Ile390=)
c.1065C>T (p.Ile355=)
c.595C>T
c.*336C>T (n.*336C>T)
c.1287C>T (p.Ile429=)
c.1071+231C>T (n.1071+231C>T)
c.1149C>T (p.Ile383=)
c.72+231C>T (n.72+231C>T)
c.1164C>T (p.Ile388=)
n.768C>T
n.3598C>T
c.1152C>T (p.Ile384=)
c.1161C>T (p.Ile387=)
n.478C>T
c.*1031C>T (n.*1031C>T)
c.471+231C>T (n.471+231C>T)
c.501C>T (p.Ile167=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1753572G>CCA379092448CTSDc.1170C>G (p.Ile390Met)
c.1065C>G (p.Ile355Met)
c.595C>G
c.*336C>G (n.*336C>G)
c.1287C>G (p.Ile429Met)
c.1071+231C>G (n.1071+231C>G)
c.1149C>G (p.Ile383Met)
c.72+231C>G (n.72+231C>G)
c.1164C>G (p.Ile388Met)
n.768C>G
n.3598C>G
c.1152C>G (p.Ile384Met)
c.1161C>G (p.Ile387Met)
n.478C>G
c.*1031C>G (n.*1031C>G)
c.471+231C>G (n.471+231C>G)
c.501C>G (p.Ile167Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.1753572G=CA1947825120CTSDc.1170C= (p.Ile390=)
c.1065C= (p.Ile355=)
c.595C=
c.*336C= (n.*336C=)
c.1287C= (p.Ile429=)
c.1071+231C= (n.1071+231C=)
c.1149C= (p.Ile383=)
c.72+231C= (n.72+231C=)
c.1164C= (p.Ile388=)
n.768C=
n.3598C=
c.1152C= (p.Ile384=)
c.1161C= (p.Ile387=)
n.478C=
c.*1031C= (n.*1031C=)
c.471+231C= (n.471+231C=)
c.501C= (p.Ile167=)
11g.1753572G>TCA472139858CTSDc.1170C>A (p.Ile390=)
c.1065C>A (p.Ile355=)
c.595C>A
c.*336C>A (n.*336C>A)
c.1287C>A (p.Ile429=)
c.1071+231C>A (n.1071+231C>A)
c.1149C>A (p.Ile383=)
c.72+231C>A (n.72+231C>A)
c.1164C>A (p.Ile388=)
n.768C>A
n.3598C>A
c.1152C>A (p.Ile384=)
c.1161C>A (p.Ile387=)
n.478C>A
c.*1031C>A (n.*1031C>A)
c.471+231C>A (n.471+231C>A)
c.501C>A (p.Ile167=)
11g.1753573A>CCA379092452CTSDc.1169T>G (p.Ile390Ser)
c.1064T>G (p.Ile355Ser)
c.594T>G
c.*335T>G (n.*335T>G)
c.1286T>G (p.Ile429Ser)
c.1071+230T>G (n.1071+230T>G)
c.1148T>G (p.Ile383Ser)
c.72+230T>G (n.72+230T>G)
c.1163T>G (p.Ile388Ser)
n.767T>G
n.3597T>G
c.1151T>G (p.Ile384Ser)
c.1160T>G (p.Ile387Ser)
n.477T>G
c.*1030T>G (n.*1030T>G)
c.471+230T>G (n.471+230T>G)
c.500T>G (p.Ile167Ser)
11g.1753573A>GCA379092453CTSDc.1169T>C (p.Ile390Thr)
c.1064T>C (p.Ile355Thr)
c.594T>C
c.*335T>C (n.*335T>C)
c.1286T>C (p.Ile429Thr)
c.1071+230T>C (n.1071+230T>C)
c.1148T>C (p.Ile383Thr)
c.72+230T>C (n.72+230T>C)
c.1163T>C (p.Ile388Thr)
n.767T>C
n.3597T>C
c.1151T>C (p.Ile384Thr)
c.1160T>C (p.Ile387Thr)
n.477T>C
c.*1030T>C (n.*1030T>C)
c.471+230T>C (n.471+230T>C)
c.500T>C (p.Ile167Thr)
 gnomAD v4
11g.1753573A>TCA379092454CTSDc.1169T>A (p.Ile390Asn)
c.1064T>A (p.Ile355Asn)
c.594T>A
c.*335T>A (n.*335T>A)
c.1286T>A (p.Ile429Asn)
c.1071+230T>A (n.1071+230T>A)
c.1148T>A (p.Ile383Asn)
c.72+230T>A (n.72+230T>A)
c.1163T>A (p.Ile388Asn)
n.767T>A
n.3597T>A
c.1151T>A (p.Ile384Asn)
c.1160T>A (p.Ile387Asn)
n.477T>A
c.*1030T>A (n.*1030T>A)
c.471+230T>A (n.471+230T>A)
c.500T>A (p.Ile167Asn)
11g.1753574_1753588dupCA186052CTSDc.1155_1169dup (p.Phe389_Ile390insMetGlyAspValPhe)
c.1050_1064dup (p.Phe354_Ile355insMetGlyAspValPhe)
c.580_594dup
c.*321_*335dup (n.*321_*335dup)
c.1272_1286dup (p.Phe428_Ile429insMetGlyAspValPhe)
c.1071+216_1071+230dup (n.1071+216_1071+230dup)
c.1134_1148dup (p.Phe382_Ile383insMetGlyAspValPhe)
c.72+216_72+230dup (n.72+216_72+230dup)
c.1149_1163dup (p.Phe387_Ile388insMetGlyAspValPhe)
n.753_767dup
n.3583_3597dup
c.1137_1151dup (p.Phe383_Ile384insMetGlyAspValPhe)
c.1146_1160dup (p.Phe386_Ile387insMetGlyAspValPhe)
n.463_477dup
c.*1016_*1030dup (n.*1016_*1030dup)
c.471+216_471+230dup (n.471+216_471+230dup)
c.486_500dup (p.Phe166_Ile167insMetGlyAspValPhe)
 ClinVar dbSNP
11g.1753574T>ACA5813882CTSDc.1168A>T (p.Ile390Phe)
c.1063A>T (p.Ile355Phe)
c.593A>T
c.*334A>T (n.*334A>T)
c.1285A>T (p.Ile429Phe)
c.1071+229A>T (n.1071+229A>T)
c.1147A>T (p.Ile383Phe)
c.72+229A>T (n.72+229A>T)
c.1162A>T (p.Ile388Phe)
n.766A>T
n.3596A>T
c.1150A>T (p.Ile384Phe)
c.1159A>T (p.Ile387Phe)
n.476A>T
c.*1029A>T (n.*1029A>T)
c.471+229A>T (n.471+229A>T)
c.499A>T (p.Ile167Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.1753574T>CCA379092457CTSDc.1168A>G (p.Ile390Val)
c.1063A>G (p.Ile355Val)
c.593A>G
c.*334A>G (n.*334A>G)
c.1285A>G (p.Ile429Val)
c.1071+229A>G (n.1071+229A>G)
c.1147A>G (p.Ile383Val)
c.72+229A>G (n.72+229A>G)
c.1162A>G (p.Ile388Val)
n.766A>G
n.3596A>G
c.1150A>G (p.Ile384Val)
c.1159A>G (p.Ile387Val)
n.476A>G
c.*1029A>G (n.*1029A>G)
c.471+229A>G (n.471+229A>G)
c.499A>G (p.Ile167Val)
 dbSNP gnomAD v3 gnomAD v4
11g.1753574T>GCA379092458CTSDc.1168A>C (p.Ile390Leu)
c.1063A>C (p.Ile355Leu)
c.593A>C
c.*334A>C (n.*334A>C)
c.1285A>C (p.Ile429Leu)
c.1071+229A>C (n.1071+229A>C)
c.1147A>C (p.Ile383Leu)
c.72+229A>C (n.72+229A>C)
c.1162A>C (p.Ile388Leu)
n.766A>C
n.3596A>C
c.1150A>C (p.Ile384Leu)
c.1159A>C (p.Ile387Leu)
n.476A>C
c.*1029A>C (n.*1029A>C)
c.471+229A>C (n.471+229A>C)
c.499A>C (p.Ile167Leu)
11g.1753574T=CA1947825121CTSDc.1168A= (p.Ile390=)
c.1063A= (p.Ile355=)
c.593A=
c.*334A= (n.*334A=)
c.1285A= (p.Ile429=)
c.1071+229A= (n.1071+229A=)
c.1147A= (p.Ile383=)
c.72+229A= (n.72+229A=)
c.1162A= (p.Ile388=)
n.766A=
n.3596A=
c.1150A= (p.Ile384=)
c.1159A= (p.Ile387=)
n.476A=
c.*1029A= (n.*1029A=)
c.471+229A= (n.471+229A=)
c.499A= (p.Ile167=)
11g.1753575G>ACA472139875CTSDc.1167C>T (p.Phe389=)
c.1062C>T (p.Phe354=)
c.592C>T
c.*333C>T (n.*333C>T)
c.1284C>T (p.Phe428=)
c.1071+228C>T (n.1071+228C>T)
c.1146C>T (p.Phe382=)
c.72+228C>T (n.72+228C>T)
c.1161C>T (p.Phe387=)
n.765C>T
n.3595C>T
c.1149C>T (p.Phe383=)
c.1158C>T (p.Phe386=)
n.475C>T
c.*1028C>T (n.*1028C>T)
c.471+228C>T (n.471+228C>T)
c.498C>T (p.Phe166=)
11g.1753575G>CCA379092461CTSDc.1167C>G (p.Phe389Leu)
c.1062C>G (p.Phe354Leu)
c.592C>G
c.*333C>G (n.*333C>G)
c.1284C>G (p.Phe428Leu)
c.1071+228C>G (n.1071+228C>G)
c.1146C>G (p.Phe382Leu)
c.72+228C>G (n.72+228C>G)
c.1161C>G (p.Phe387Leu)
n.765C>G
n.3595C>G
c.1149C>G (p.Phe383Leu)
c.1158C>G (p.Phe386Leu)
n.475C>G
c.*1028C>G (n.*1028C>G)
c.471+228C>G (n.471+228C>G)
c.498C>G (p.Phe166Leu)
11g.1753575G>TCA379092464CTSDc.1167C>A (p.Phe389Leu)
c.1062C>A (p.Phe354Leu)
c.592C>A
c.*333C>A (n.*333C>A)
c.1284C>A (p.Phe428Leu)
c.1071+228C>A (n.1071+228C>A)
c.1146C>A (p.Phe382Leu)
c.72+228C>A (n.72+228C>A)
c.1161C>A (p.Phe387Leu)
n.765C>A
n.3595C>A
c.1149C>A (p.Phe383Leu)
c.1158C>A (p.Phe386Leu)
n.475C>A
c.*1028C>A (n.*1028C>A)
c.471+228C>A (n.471+228C>A)
c.498C>A (p.Phe166Leu)
11g.1753576A>CCA379092465CTSDc.1166T>G (p.Phe389Cys)
c.1061T>G (p.Phe354Cys)
c.591T>G
c.*332T>G (n.*332T>G)
c.1283T>G (p.Phe428Cys)
c.1071+227T>G (n.1071+227T>G)
c.1145T>G (p.Phe382Cys)
c.72+227T>G (n.72+227T>G)
c.1160T>G (p.Phe387Cys)
n.764T>G
n.3594T>G
c.1148T>G (p.Phe383Cys)
c.1157T>G (p.Phe386Cys)
n.474T>G
c.*1027T>G (n.*1027T>G)
c.471+227T>G (n.471+227T>G)
c.497T>G (p.Phe166Cys)
11g.1753576A>GCA379092467CTSDc.1166T>C (p.Phe389Ser)
c.1061T>C (p.Phe354Ser)
c.591T>C
c.*332T>C (n.*332T>C)
c.1283T>C (p.Phe428Ser)
c.1071+227T>C (n.1071+227T>C)
c.1145T>C (p.Phe382Ser)
c.72+227T>C (n.72+227T>C)
c.1160T>C (p.Phe387Ser)
n.764T>C
n.3594T>C
c.1148T>C (p.Phe383Ser)
c.1157T>C (p.Phe386Ser)
n.474T>C
c.*1027T>C (n.*1027T>C)
c.471+227T>C (n.471+227T>C)
c.497T>C (p.Phe166Ser)
11g.1753576A>TCA379092468CTSDc.1166T>A (p.Phe389Tyr)
c.1061T>A (p.Phe354Tyr)
c.591T>A
c.*332T>A (n.*332T>A)
c.1283T>A (p.Phe428Tyr)
c.1071+227T>A (n.1071+227T>A)
c.1145T>A (p.Phe382Tyr)
c.72+227T>A (n.72+227T>A)
c.1160T>A (p.Phe387Tyr)
n.764T>A
n.3594T>A
c.1148T>A (p.Phe383Tyr)
c.1157T>A (p.Phe386Tyr)
n.474T>A
c.*1027T>A (n.*1027T>A)
c.471+227T>A (n.471+227T>A)
c.497T>A (p.Phe166Tyr)
11g.1753577A>CCA379092470CTSDc.1165T>G (p.Phe389Val)
c.1060T>G (p.Phe354Val)
c.590T>G
c.*331T>G (n.*331T>G)
c.1282T>G (p.Phe428Val)
c.1071+226T>G (n.1071+226T>G)
c.1144T>G (p.Phe382Val)
c.72+226T>G (n.72+226T>G)
c.1159T>G (p.Phe387Val)
n.763T>G
n.3593T>G
c.1147T>G (p.Phe383Val)
c.1156T>G (p.Phe386Val)
n.473T>G
c.*1026T>G (n.*1026T>G)
c.471+226T>G (n.471+226T>G)
c.496T>G (p.Phe166Val)
11g.1753577A>GCA379092474CTSDc.1165T>C (p.Phe389Leu)
c.1060T>C (p.Phe354Leu)
c.590T>C
c.*331T>C (n.*331T>C)
c.1282T>C (p.Phe428Leu)
c.1071+226T>C (n.1071+226T>C)
c.1144T>C (p.Phe382Leu)
c.72+226T>C (n.72+226T>C)
c.1159T>C (p.Phe387Leu)
n.763T>C
n.3593T>C
c.1147T>C (p.Phe383Leu)
c.1156T>C (p.Phe386Leu)
n.473T>C
c.*1026T>C (n.*1026T>C)
c.471+226T>C (n.471+226T>C)
c.496T>C (p.Phe166Leu)
11g.1753577A>TCA379092472CTSDc.1165T>A (p.Phe389Ile)
c.1060T>A (p.Phe354Ile)
c.590T>A
c.*331T>A (n.*331T>A)
c.1282T>A (p.Phe428Ile)
c.1071+226T>A (n.1071+226T>A)
c.1144T>A (p.Phe382Ile)
c.72+226T>A (n.72+226T>A)
c.1159T>A (p.Phe387Ile)
n.763T>A
n.3593T>A
c.1147T>A (p.Phe383Ile)
c.1156T>A (p.Phe386Ile)
n.473T>A
c.*1026T>A (n.*1026T>A)
c.471+226T>A (n.471+226T>A)
c.496T>A (p.Phe166Ile)
11g.1753578G>ACA472140344CTSDc.1164C>T (p.Val388=)
c.1059C>T (p.Val353=)
c.589C>T
c.*330C>T (n.*330C>T)
c.1281C>T (p.Val427=)
c.1071+225C>T (n.1071+225C>T)
c.1143C>T (p.Val381=)
c.72+225C>T (n.72+225C>T)
c.1158C>T (p.Val386=)
n.762C>T
n.3592C>T
c.1146C>T (p.Val382=)
c.1155C>T (p.Val385=)
n.472C>T
c.*1025C>T (n.*1025C>T)
c.471+225C>T (n.471+225C>T)
c.495C>T (p.Val165=)
 ClinVar
11g.1753578G>CCA472140336CTSDc.1164C>G (p.Val388=)
c.1059C>G (p.Val353=)
c.589C>G
c.*330C>G (n.*330C>G)
c.1281C>G (p.Val427=)
c.1071+225C>G (n.1071+225C>G)
c.1143C>G (p.Val381=)
c.72+225C>G (n.72+225C>G)
c.1158C>G (p.Val386=)
n.762C>G
n.3592C>G
c.1146C>G (p.Val382=)
c.1155C>G (p.Val385=)
n.472C>G
c.*1025C>G (n.*1025C>G)
c.471+225C>G (n.471+225C>G)
c.495C>G (p.Val165=)
 ClinVar
11g.1753578G>TCA472140340CTSDc.1164C>A (p.Val388=)
c.1059C>A (p.Val353=)
c.589C>A
c.*330C>A (n.*330C>A)
c.1281C>A (p.Val427=)
c.1071+225C>A (n.1071+225C>A)
c.1143C>A (p.Val381=)
c.72+225C>A (n.72+225C>A)
c.1158C>A (p.Val386=)
n.762C>A
n.3592C>A
c.1146C>A (p.Val382=)
c.1155C>A (p.Val385=)
n.472C>A
c.*1025C>A (n.*1025C>A)
c.471+225C>A (n.471+225C>A)
c.495C>A (p.Val165=)
 gnomAD v4
11g.1753579A>CCA379092475CTSDc.1163T>G (p.Val388Gly)
c.1058T>G (p.Val353Gly)
c.588T>G
c.*329T>G (n.*329T>G)
c.1280T>G (p.Val427Gly)
c.1071+224T>G (n.1071+224T>G)
c.1142T>G (p.Val381Gly)
c.72+224T>G (n.72+224T>G)
c.1157T>G (p.Val386Gly)
n.761T>G
n.3591T>G
c.1145T>G (p.Val382Gly)
c.1154T>G (p.Val385Gly)
n.471T>G
c.*1024T>G (n.*1024T>G)
c.471+224T>G (n.471+224T>G)
c.494T>G (p.Val165Gly)
11g.1753579A>GCA379092476CTSDc.1163T>C (p.Val388Ala)
c.1058T>C (p.Val353Ala)
c.588T>C
c.*329T>C (n.*329T>C)
c.1280T>C (p.Val427Ala)
c.1071+224T>C (n.1071+224T>C)
c.1142T>C (p.Val381Ala)
c.72+224T>C (n.72+224T>C)
c.1157T>C (p.Val386Ala)
n.761T>C
n.3591T>C
c.1145T>C (p.Val382Ala)
c.1154T>C (p.Val385Ala)
n.471T>C
c.*1024T>C (n.*1024T>C)
c.471+224T>C (n.471+224T>C)
c.494T>C (p.Val165Ala)
11g.1753579A>TCA379092477CTSDc.1163T>A (p.Val388Asp)
c.1058T>A (p.Val353Asp)
c.588T>A
c.*329T>A (n.*329T>A)
c.1280T>A (p.Val427Asp)
c.1071+224T>A (n.1071+224T>A)
c.1142T>A (p.Val381Asp)
c.72+224T>A (n.72+224T>A)
c.1157T>A (p.Val386Asp)
n.761T>A
n.3591T>A
c.1145T>A (p.Val382Asp)
c.1154T>A (p.Val385Asp)
n.471T>A
c.*1024T>A (n.*1024T>A)
c.471+224T>A (n.471+224T>A)
c.494T>A (p.Val165Asp)
11g.1753580C>ACA379092479CTSDc.1162G>T (p.Val388Phe)
c.1057G>T (p.Val353Phe)
c.587G>T
c.*328G>T (n.*328G>T)
c.1279G>T (p.Val427Phe)
c.1071+223G>T (n.1071+223G>T)
c.1141G>T (p.Val381Phe)
c.72+223G>T (n.72+223G>T)
c.1156G>T (p.Val386Phe)
n.760G>T
n.3590G>T
c.1144G>T (p.Val382Phe)
c.1153G>T (p.Val385Phe)
n.470G>T
c.*1023G>T (n.*1023G>T)
c.471+223G>T (n.471+223G>T)
c.493G>T (p.Val165Phe)
11g.1753580C=CA1947825122CTSDc.1162G= (p.Val388=)
c.1057G= (p.Val353=)
c.587G=
c.*328G= (n.*328G=)
c.1279G= (p.Val427=)
c.1071+223G= (n.1071+223G=)
c.1141G= (p.Val381=)
c.72+223G= (n.72+223G=)
c.1156G= (p.Val386=)
n.760G=
n.3590G=
c.1144G= (p.Val382=)
c.1153G= (p.Val385=)
n.470G=
c.*1023G= (n.*1023G=)
c.471+223G= (n.471+223G=)
c.493G= (p.Val165=)
11g.1753580C>GCA5813884CTSDc.1162G>C (p.Val388Leu)
c.1057G>C (p.Val353Leu)
c.587G>C
c.*328G>C (n.*328G>C)
c.1279G>C (p.Val427Leu)
c.1071+223G>C (n.1071+223G>C)
c.1141G>C (p.Val381Leu)
c.72+223G>C (n.72+223G>C)
c.1156G>C (p.Val386Leu)
n.760G>C
n.3590G>C
c.1144G>C (p.Val382Leu)
c.1153G>C (p.Val385Leu)
n.470G>C
c.*1023G>C (n.*1023G>C)
c.471+223G>C (n.471+223G>C)
c.493G>C (p.Val165Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.1753580C>TCA5813883CTSDc.1162G>A (p.Val388Ile)
c.1057G>A (p.Val353Ile)
c.587G>A
c.*328G>A (n.*328G>A)
c.1279G>A (p.Val427Ile)
c.1071+223G>A (n.1071+223G>A)
c.1141G>A (p.Val381Ile)
c.72+223G>A (n.72+223G>A)
c.1156G>A (p.Val386Ile)
n.760G>A
n.3590G>A
c.1144G>A (p.Val382Ile)
c.1153G>A (p.Val385Ile)
n.470G>A
c.*1023G>A (n.*1023G>A)
c.471+223G>A (n.471+223G>A)
c.493G>A (p.Val165Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1753581G>ACA216168638CTSDc.1161C>T (p.Asp387=)
c.1056C>T (p.Asp352=)
c.586C>T
c.*327C>T (n.*327C>T)
c.1278C>T (p.Asp426=)
c.1071+222C>T (n.1071+222C>T)
c.1140C>T (p.Asp380=)
c.72+222C>T (n.72+222C>T)
c.1155C>T (p.Asp385=)
n.759C>T
n.3589C>T
c.1143C>T (p.Asp381=)
c.1152C>T (p.Asp384=)
n.469C>T
c.*1022C>T (n.*1022C>T)
c.471+222C>T (n.471+222C>T)
c.492C>T (p.Asp164=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.1753581G>CCA379092482CTSDc.1161C>G (p.Asp387Glu)
c.1056C>G (p.Asp352Glu)
c.586C>G
c.*327C>G (n.*327C>G)
c.1278C>G (p.Asp426Glu)
c.1071+222C>G (n.1071+222C>G)
c.1140C>G (p.Asp380Glu)
c.72+222C>G (n.72+222C>G)
c.1155C>G (p.Asp385Glu)
n.759C>G
n.3589C>G
c.1143C>G (p.Asp381Glu)
c.1152C>G (p.Asp384Glu)
n.469C>G
c.*1022C>G (n.*1022C>G)
c.471+222C>G (n.471+222C>G)
c.492C>G (p.Asp164Glu)
11g.1753581G=CA1947825123CTSDc.1161C= (p.Asp387=)
c.1056C= (p.Asp352=)
c.586C=
c.*327C= (n.*327C=)
c.1278C= (p.Asp426=)
c.1071+222C= (n.1071+222C=)
c.1140C= (p.Asp380=)
c.72+222C= (n.72+222C=)
c.1155C= (p.Asp385=)
n.759C=
n.3589C=
c.1143C= (p.Asp381=)
c.1152C= (p.Asp384=)
n.469C=
c.*1022C= (n.*1022C=)
c.471+222C= (n.471+222C=)
c.492C= (p.Asp164=)
11g.1753581G>TCA379092484CTSDc.1161C>A (p.Asp387Glu)
c.1056C>A (p.Asp352Glu)
c.586C>A
c.*327C>A (n.*327C>A)
c.1278C>A (p.Asp426Glu)
c.1071+222C>A (n.1071+222C>A)
c.1140C>A (p.Asp380Glu)
c.72+222C>A (n.72+222C>A)
c.1155C>A (p.Asp385Glu)
n.759C>A
n.3589C>A
c.1143C>A (p.Asp381Glu)
c.1152C>A (p.Asp384Glu)
n.469C>A
c.*1022C>A (n.*1022C>A)
c.471+222C>A (n.471+222C>A)
c.492C>A (p.Asp164Glu)
11g.1753582T>ACA379092486CTSDc.1160A>T (p.Asp387Val)
c.1055A>T (p.Asp352Val)
c.585A>T
c.*326A>T (n.*326A>T)
c.1277A>T (p.Asp426Val)
c.1071+221A>T (n.1071+221A>T)
c.1139A>T (p.Asp380Val)
c.72+221A>T (n.72+221A>T)
c.1154A>T (p.Asp385Val)
n.758A>T
n.3588A>T
c.1142A>T (p.Asp381Val)
c.1151A>T (p.Asp384Val)
n.468A>T
c.*1021A>T (n.*1021A>T)
c.471+221A>T (n.471+221A>T)
c.491A>T (p.Asp164Val)
11g.1753582T>CCA379092488CTSDc.1160A>G (p.Asp387Gly)
c.1055A>G (p.Asp352Gly)
c.585A>G
c.*326A>G (n.*326A>G)
c.1277A>G (p.Asp426Gly)
c.1071+221A>G (n.1071+221A>G)
c.1139A>G (p.Asp380Gly)
c.72+221A>G (n.72+221A>G)
c.1154A>G (p.Asp385Gly)
n.758A>G
n.3588A>G
c.1142A>G (p.Asp381Gly)
c.1151A>G (p.Asp384Gly)
n.468A>G
c.*1021A>G (n.*1021A>G)
c.471+221A>G (n.471+221A>G)
c.491A>G (p.Asp164Gly)
11g.1753582T>GCA379092490CTSDc.1160A>C (p.Asp387Ala)
c.1055A>C (p.Asp352Ala)
c.585A>C
c.*326A>C (n.*326A>C)
c.1277A>C (p.Asp426Ala)
c.1071+221A>C (n.1071+221A>C)
c.1139A>C (p.Asp380Ala)
c.72+221A>C (n.72+221A>C)
c.1154A>C (p.Asp385Ala)
n.758A>C
n.3588A>C
c.1142A>C (p.Asp381Ala)
c.1151A>C (p.Asp384Ala)
n.468A>C
c.*1021A>C (n.*1021A>C)
c.471+221A>C (n.471+221A>C)
c.491A>C (p.Asp164Ala)
11g.1753583C>ACA5813886CTSDc.1159G>T (p.Asp387Tyr)
c.1054G>T (p.Asp352Tyr)
c.584G>T
c.*325G>T (n.*325G>T)
c.1276G>T (p.Asp426Tyr)
c.1071+220G>T (n.1071+220G>T)
c.1138G>T (p.Asp380Tyr)
c.72+220G>T (n.72+220G>T)
c.1153G>T (p.Asp385Tyr)
n.757G>T
n.3587G>T
c.1141G>T (p.Asp381Tyr)
c.1150G>T (p.Asp384Tyr)
n.467G>T
c.*1020G>T (n.*1020G>T)
c.471+220G>T (n.471+220G>T)
c.490G>T (p.Asp164Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.1753583C=CA1947825124CTSDc.1159G= (p.Asp387=)
c.1054G= (p.Asp352=)
c.584G=
c.*325G= (n.*325G=)
c.1276G= (p.Asp426=)
c.1071+220G= (n.1071+220G=)
c.1138G= (p.Asp380=)
c.72+220G= (n.72+220G=)
c.1153G= (p.Asp385=)
n.757G=
n.3587G=
c.1141G= (p.Asp381=)
c.1150G= (p.Asp384=)
n.467G=
c.*1020G= (n.*1020G=)
c.471+220G= (n.471+220G=)
c.490G= (p.Asp164=)
11g.1753583C>GCA379092492CTSDc.1159G>C (p.Asp387His)
c.1054G>C (p.Asp352His)
c.584G>C
c.*325G>C (n.*325G>C)
c.1276G>C (p.Asp426His)
c.1071+220G>C (n.1071+220G>C)
c.1138G>C (p.Asp380His)
c.72+220G>C (n.72+220G>C)
c.1153G>C (p.Asp385His)
n.757G>C
n.3587G>C
c.1141G>C (p.Asp381His)
c.1150G>C (p.Asp384His)
n.467G>C
c.*1020G>C (n.*1020G>C)
c.471+220G>C (n.471+220G>C)
c.490G>C (p.Asp164His)
11g.1753583C>TCA5813885CTSDc.1159G>A (p.Asp387Asn)
c.1054G>A (p.Asp352Asn)
c.584G>A
c.*325G>A (n.*325G>A)
c.1276G>A (p.Asp426Asn)
c.1071+220G>A (n.1071+220G>A)
c.1138G>A (p.Asp380Asn)
c.72+220G>A (n.72+220G>A)
c.1153G>A (p.Asp385Asn)
n.757G>A
n.3587G>A
c.1141G>A (p.Asp381Asn)
c.1150G>A (p.Asp384Asn)
n.467G>A
c.*1020G>A (n.*1020G>A)
c.471+220G>A (n.471+220G>A)
c.490G>A (p.Asp164Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1753584G>ACA5813887CTSDc.1158C>T (p.Gly386=)
c.1053C>T (p.Gly351=)
c.583C>T
c.*324C>T (n.*324C>T)
c.1275C>T (p.Gly425=)
c.1071+219C>T (n.1071+219C>T)
c.1137C>T (p.Gly379=)
c.72+219C>T (n.72+219C>T)
c.1152C>T (p.Gly384=)
n.756C>T
n.3586C>T
c.1140C>T (p.Gly380=)
c.1149C>T (p.Gly383=)
n.466C>T
c.*1019C>T (n.*1019C>T)
c.471+219C>T (n.471+219C>T)
c.489C>T (p.Gly163=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1753584G>CCA472140377CTSDc.1158C>G (p.Gly386=)
c.1053C>G (p.Gly351=)
c.583C>G
c.*324C>G (n.*324C>G)
c.1275C>G (p.Gly425=)
c.1071+219C>G (n.1071+219C>G)
c.1137C>G (p.Gly379=)
c.72+219C>G (n.72+219C>G)
c.1152C>G (p.Gly384=)
n.756C>G
n.3586C>G
c.1140C>G (p.Gly380=)
c.1149C>G (p.Gly383=)
n.466C>G
c.*1019C>G (n.*1019C>G)
c.471+219C>G (n.471+219C>G)
c.489C>G (p.Gly163=)
11g.1753584G=CA1947825125CTSDc.1158C= (p.Gly386=)
c.1053C= (p.Gly351=)
c.583C=
c.*324C= (n.*324C=)
c.1275C= (p.Gly425=)
c.1071+219C= (n.1071+219C=)
c.1137C= (p.Gly379=)
c.72+219C= (n.72+219C=)
c.1152C= (p.Gly384=)
n.756C=
n.3586C=
c.1140C= (p.Gly380=)
c.1149C= (p.Gly383=)
n.466C=
c.*1019C= (n.*1019C=)
c.471+219C= (n.471+219C=)
c.489C= (p.Gly163=)
11g.1753584G>TCA472140379CTSDc.1158C>A (p.Gly386=)
c.1053C>A (p.Gly351=)
c.583C>A
c.*324C>A (n.*324C>A)
c.1275C>A (p.Gly425=)
c.1071+219C>A (n.1071+219C>A)
c.1137C>A (p.Gly379=)
c.72+219C>A (n.72+219C>A)
c.1152C>A (p.Gly384=)
n.756C>A
n.3586C>A
c.1140C>A (p.Gly380=)
c.1149C>A (p.Gly383=)
n.466C>A
c.*1019C>A (n.*1019C>A)
c.471+219C>A (n.471+219C>A)
c.489C>A (p.Gly163=)
11g.1753585C>ACA379092497CTSDc.1157G>T (p.Gly386Val)
c.1052G>T (p.Gly351Val)
c.582G>T
c.*323G>T (n.*323G>T)
c.1274G>T (p.Gly425Val)
c.1071+218G>T (n.1071+218G>T)
c.1136G>T (p.Gly379Val)
c.72+218G>T (n.72+218G>T)
c.1151G>T (p.Gly384Val)
n.755G>T
n.3585G>T
c.1139G>T (p.Gly380Val)
c.1148G>T (p.Gly383Val)
n.465G>T
c.*1018G>T (n.*1018G>T)
c.471+218G>T (n.471+218G>T)
c.488G>T (p.Gly163Val)
11g.1753585C>GCA379092498CTSDc.1157G>C (p.Gly386Ala)
c.1052G>C (p.Gly351Ala)
c.582G>C
c.*323G>C (n.*323G>C)
c.1274G>C (p.Gly425Ala)
c.1071+218G>C (n.1071+218G>C)
c.1136G>C (p.Gly379Ala)
c.72+218G>C (n.72+218G>C)
c.1151G>C (p.Gly384Ala)
n.755G>C
n.3585G>C
c.1139G>C (p.Gly380Ala)
c.1148G>C (p.Gly383Ala)
n.465G>C
c.*1018G>C (n.*1018G>C)
c.471+218G>C (n.471+218G>C)
c.488G>C (p.Gly163Ala)
11g.1753585C>TCA379092500CTSDc.1157G>A (p.Gly386Asp)
c.1052G>A (p.Gly351Asp)
c.582G>A
c.*323G>A (n.*323G>A)
c.1274G>A (p.Gly425Asp)
c.1071+218G>A (n.1071+218G>A)
c.1136G>A (p.Gly379Asp)
c.72+218G>A (n.72+218G>A)
c.1151G>A (p.Gly384Asp)
n.755G>A
n.3585G>A
c.1139G>A (p.Gly380Asp)
c.1148G>A (p.Gly383Asp)
n.465G>A
c.*1018G>A (n.*1018G>A)
c.471+218G>A (n.471+218G>A)
c.488G>A (p.Gly163Asp)
 gnomAD v4
11g.1753586C>ACA379092502CTSDc.1156G>T (p.Gly386Cys)
c.1051G>T (p.Gly351Cys)
c.581G>T
c.*322G>T (n.*322G>T)
c.1273G>T (p.Gly425Cys)
c.1071+217G>T (n.1071+217G>T)
c.1135G>T (p.Gly379Cys)
c.72+217G>T (n.72+217G>T)
c.1150G>T (p.Gly384Cys)
n.754G>T
n.3584G>T
c.1138G>T (p.Gly380Cys)
c.1147G>T (p.Gly383Cys)
n.464G>T
c.*1017G>T (n.*1017G>T)
c.471+217G>T (n.471+217G>T)
c.487G>T (p.Gly163Cys)
11g.1753586C>GCA379092504CTSDc.1156G>C (p.Gly386Arg)
c.1051G>C (p.Gly351Arg)
c.581G>C
c.*322G>C (n.*322G>C)
c.1273G>C (p.Gly425Arg)
c.1071+217G>C (n.1071+217G>C)
c.1135G>C (p.Gly379Arg)
c.72+217G>C (n.72+217G>C)
c.1150G>C (p.Gly384Arg)
n.754G>C
n.3584G>C
c.1138G>C (p.Gly380Arg)
c.1147G>C (p.Gly383Arg)
n.464G>C
c.*1017G>C (n.*1017G>C)
c.471+217G>C (n.471+217G>C)
c.487G>C (p.Gly163Arg)
11g.1753586C>TCA379092506CTSDc.1156G>A (p.Gly386Ser)
c.1051G>A (p.Gly351Ser)
c.581G>A
c.*322G>A (n.*322G>A)
c.1273G>A (p.Gly425Ser)
c.1071+217G>A (n.1071+217G>A)
c.1135G>A (p.Gly379Ser)
c.72+217G>A (n.72+217G>A)
c.1150G>A (p.Gly384Ser)
n.754G>A
n.3584G>A
c.1138G>A (p.Gly380Ser)
c.1147G>A (p.Gly383Ser)
n.464G>A
c.*1017G>A (n.*1017G>A)
c.471+217G>A (n.471+217G>A)
c.487G>A (p.Gly163Ser)
 gnomAD v4
11g.1753590_1753596delCA2790162974CTSDc.1150_1156del (p.Ile384AlafsTer?)
c.1045_1051del (p.Ile349AlafsTer?)
c.575_581del
c.*316_*322del (n.*316_*322del)
c.1267_1273del (p.Ile423AlafsTer?)
c.1071+211_1071+217del (n.1071+211_1071+217del)
c.1129_1135del (p.Ile377AlafsTer?)
c.72+211_72+217del (n.72+211_72+217del)
c.1144_1150del (p.Ile382AlafsTer?)
n.748_754del
n.3578_3584del
c.1132_1138del (p.Ile378AlafsTer?)
c.1141_1147del (p.Ile381AlafsTer?)
n.458_464del
c.*1011_*1017del (n.*1011_*1017del)
c.471+211_471+217del (n.471+211_471+217del)
c.481_487del (p.Ile161AlafsTer?)
11g.1753587C>ACA472140399CTSDc.1155G>T (p.Leu385=)
c.1050G>T (p.Leu350=)
c.580G>T
c.*321G>T (n.*321G>T)
c.1272G>T (p.Leu424=)
c.1071+216G>T (n.1071+216G>T)
c.1134G>T (p.Leu378=)
c.72+216G>T (n.72+216G>T)
c.1149G>T (p.Leu383=)
n.753G>T
n.3583G>T
c.1137G>T (p.Leu379=)
c.1146G>T (p.Leu382=)
n.463G>T
c.*1016G>T (n.*1016G>T)
c.471+216G>T (n.471+216G>T)
c.486G>T (p.Leu162=)
11g.1753587C>GCA472140403CTSDc.1155G>C (p.Leu385=)
c.1050G>C (p.Leu350=)
c.580G>C
c.*321G>C (n.*321G>C)
c.1272G>C (p.Leu424=)
c.1071+216G>C (n.1071+216G>C)
c.1134G>C (p.Leu378=)
c.72+216G>C (n.72+216G>C)
c.1149G>C (p.Leu383=)
n.753G>C
n.3583G>C
c.1137G>C (p.Leu379=)
c.1146G>C (p.Leu382=)
n.463G>C
c.*1016G>C (n.*1016G>C)
c.471+216G>C (n.471+216G>C)
c.486G>C (p.Leu162=)
11g.1753587C>TCA472140404CTSDc.1155G>A (p.Leu385=)
c.1050G>A (p.Leu350=)
c.580G>A
c.*321G>A (n.*321G>A)
c.1272G>A (p.Leu424=)
c.1071+216G>A (n.1071+216G>A)
c.1134G>A (p.Leu378=)
c.72+216G>A (n.72+216G>A)
c.1149G>A (p.Leu383=)
n.753G>A
n.3583G>A
c.1137G>A (p.Leu379=)
c.1146G>A (p.Leu382=)
n.463G>A
c.*1016G>A (n.*1016G>A)
c.471+216G>A (n.471+216G>A)
c.486G>A (p.Leu162=)
 gnomAD v4
11g.1753588A>CCA379092508CTSDc.1154T>G (p.Leu385Arg)
c.1049T>G (p.Leu350Arg)
c.579T>G
c.*320T>G (n.*320T>G)
c.1271T>G (p.Leu424Arg)
c.1071+215T>G (n.1071+215T>G)
c.1133T>G (p.Leu378Arg)
c.72+215T>G (n.72+215T>G)
c.1148T>G (p.Leu383Arg)
n.752T>G
n.3582T>G
c.1136T>G (p.Leu379Arg)
c.1145T>G (p.Leu382Arg)
n.462T>G
c.*1015T>G (n.*1015T>G)
c.471+215T>G (n.471+215T>G)
c.485T>G (p.Leu162Arg)
11g.1753588A>GCA379092509CTSDc.1154T>C (p.Leu385Pro)
c.1049T>C (p.Leu350Pro)
c.579T>C
c.*320T>C (n.*320T>C)
c.1271T>C (p.Leu424Pro)
c.1071+215T>C (n.1071+215T>C)
c.1133T>C (p.Leu378Pro)
c.72+215T>C (n.72+215T>C)
c.1148T>C (p.Leu383Pro)
n.752T>C
n.3582T>C
c.1136T>C (p.Leu379Pro)
c.1145T>C (p.Leu382Pro)
n.462T>C
c.*1015T>C (n.*1015T>C)
c.471+215T>C (n.471+215T>C)
c.485T>C (p.Leu162Pro)
11g.1753588A>TCA379092511CTSDc.1154T>A (p.Leu385Gln)
c.1049T>A (p.Leu350Gln)
c.579T>A
c.*320T>A (n.*320T>A)
c.1271T>A (p.Leu424Gln)
c.1071+215T>A (n.1071+215T>A)
c.1133T>A (p.Leu378Gln)
c.72+215T>A (n.72+215T>A)
c.1148T>A (p.Leu383Gln)
n.752T>A
n.3582T>A
c.1136T>A (p.Leu379Gln)
c.1145T>A (p.Leu382Gln)
n.462T>A
c.*1015T>A (n.*1015T>A)
c.471+215T>A (n.471+215T>A)
c.485T>A (p.Leu162Gln)
11g.1753589G>ACA472140421CTSDc.1153C>T (p.Leu385=)
c.1048C>T (p.Leu350=)
c.578C>T
c.*319C>T (n.*319C>T)
c.1270C>T (p.Leu424=)
c.1071+214C>T (n.1071+214C>T)
c.1132C>T (p.Leu378=)
c.72+214C>T (n.72+214C>T)
c.1147C>T (p.Leu383=)
n.751C>T
n.3581C>T
c.1135C>T (p.Leu379=)
c.1144C>T (p.Leu382=)
n.461C>T
c.*1014C>T (n.*1014C>T)
c.471+214C>T (n.471+214C>T)
c.484C>T (p.Leu162=)
11g.1753589G>CCA379092513CTSDc.1153C>G (p.Leu385Val)
c.1048C>G (p.Leu350Val)
c.578C>G
c.*319C>G (n.*319C>G)
c.1270C>G (p.Leu424Val)
c.1071+214C>G (n.1071+214C>G)
c.1132C>G (p.Leu378Val)
c.72+214C>G (n.72+214C>G)
c.1147C>G (p.Leu383Val)
n.751C>G
n.3581C>G
c.1135C>G (p.Leu379Val)
c.1144C>G (p.Leu382Val)
n.461C>G
c.*1014C>G (n.*1014C>G)
c.471+214C>G (n.471+214C>G)
c.484C>G (p.Leu162Val)
11g.1753589G>TCA379092516CTSDc.1153C>A (p.Leu385Met)
c.1048C>A (p.Leu350Met)
c.578C>A
c.*319C>A (n.*319C>A)
c.1270C>A (p.Leu424Met)
c.1071+214C>A (n.1071+214C>A)
c.1132C>A (p.Leu378Met)
c.72+214C>A (n.72+214C>A)
c.1147C>A (p.Leu383Met)
n.751C>A
n.3581C>A
c.1135C>A (p.Leu379Met)
c.1144C>A (p.Leu382Met)
n.461C>A
c.*1014C>A (n.*1014C>A)
c.471+214C>A (n.471+214C>A)
c.484C>A (p.Leu162Met)
11g.1753590G>ACA472140424CTSDc.1152C>T (p.Ile384=)
c.1047C>T (p.Ile349=)
c.577C>T
c.*318C>T (n.*318C>T)
c.1269C>T (p.Ile423=)
c.1071+213C>T (n.1071+213C>T)
c.1131C>T (p.Ile377=)
c.72+213C>T (n.72+213C>T)
c.1146C>T (p.Ile382=)
n.750C>T
n.3580C>T
c.1134C>T (p.Ile378=)
c.1143C>T (p.Ile381=)
n.460C>T
c.*1013C>T (n.*1013C>T)
c.471+213C>T (n.471+213C>T)
c.483C>T (p.Ile161=)
11g.1753590G>CCA379092518CTSDc.1152C>G (p.Ile384Met)
c.1047C>G (p.Ile349Met)
c.577C>G
c.*318C>G (n.*318C>G)
c.1269C>G (p.Ile423Met)
c.1071+213C>G (n.1071+213C>G)
c.1131C>G (p.Ile377Met)
c.72+213C>G (n.72+213C>G)
c.1146C>G (p.Ile382Met)
n.750C>G
n.3580C>G
c.1134C>G (p.Ile378Met)
c.1143C>G (p.Ile381Met)
n.460C>G
c.*1013C>G (n.*1013C>G)
c.471+213C>G (n.471+213C>G)
c.483C>G (p.Ile161Met)
11g.1753590G>TCA472140429CTSDc.1152C>A (p.Ile384=)
c.1047C>A (p.Ile349=)
c.577C>A
c.*318C>A (n.*318C>A)
c.1269C>A (p.Ile423=)
c.1071+213C>A (n.1071+213C>A)
c.1131C>A (p.Ile377=)
c.72+213C>A (n.72+213C>A)
c.1146C>A (p.Ile382=)
n.750C>A
n.3580C>A
c.1134C>A (p.Ile378=)
c.1143C>A (p.Ile381=)
n.460C>A
c.*1013C>A (n.*1013C>A)
c.471+213C>A (n.471+213C>A)
c.483C>A (p.Ile161=)
11g.1753591A>CCA379092523CTSDc.1151T>G (p.Ile384Ser)
c.1046T>G (p.Ile349Ser)
c.576T>G
c.*317T>G (n.*317T>G)
c.1268T>G (p.Ile423Ser)
c.1071+212T>G (n.1071+212T>G)
c.1130T>G (p.Ile377Ser)
c.72+212T>G (n.72+212T>G)
c.1145T>G (p.Ile382Ser)
n.749T>G
n.3579T>G
c.1133T>G (p.Ile378Ser)
c.1142T>G (p.Ile381Ser)
n.459T>G
c.*1012T>G (n.*1012T>G)
c.471+212T>G (n.471+212T>G)
c.482T>G (p.Ile161Ser)
11g.1753591A>GCA379092521CTSDc.1151T>C (p.Ile384Thr)
c.1046T>C (p.Ile349Thr)
c.576T>C
c.*317T>C (n.*317T>C)
c.1268T>C (p.Ile423Thr)
c.1071+212T>C (n.1071+212T>C)
c.1130T>C (p.Ile377Thr)
c.72+212T>C (n.72+212T>C)
c.1145T>C (p.Ile382Thr)
n.749T>C
n.3579T>C
c.1133T>C (p.Ile378Thr)
c.1142T>C (p.Ile381Thr)
n.459T>C
c.*1012T>C (n.*1012T>C)
c.471+212T>C (n.471+212T>C)
c.482T>C (p.Ile161Thr)
 gnomAD v4
11g.1753591A>TCA379092522CTSDc.1151T>A (p.Ile384Asn)
c.1046T>A (p.Ile349Asn)
c.576T>A
c.*317T>A (n.*317T>A)
c.1268T>A (p.Ile423Asn)
c.1071+212T>A (n.1071+212T>A)
c.1130T>A (p.Ile377Asn)
c.72+212T>A (n.72+212T>A)
c.1145T>A (p.Ile382Asn)
n.749T>A
n.3579T>A
c.1133T>A (p.Ile378Asn)
c.1142T>A (p.Ile381Asn)
n.459T>A
c.*1012T>A (n.*1012T>A)
c.471+212T>A (n.471+212T>A)
c.482T>A (p.Ile161Asn)
11g.1753592T>ACA379092525CTSDc.1150A>T (p.Ile384Phe)
c.1045A>T (p.Ile349Phe)
c.575A>T
c.*316A>T (n.*316A>T)
c.1267A>T (p.Ile423Phe)
c.1071+211A>T (n.1071+211A>T)
c.1129A>T (p.Ile377Phe)
c.72+211A>T (n.72+211A>T)
c.1144A>T (p.Ile382Phe)
n.748A>T
n.3578A>T
c.1132A>T (p.Ile378Phe)
c.1141A>T (p.Ile381Phe)
n.458A>T
c.*1011A>T (n.*1011A>T)
c.471+211A>T (n.471+211A>T)
c.481A>T (p.Ile161Phe)
 gnomAD v4
11g.1753592T>CCA314330CTSDc.1150A>G (p.Ile384Val)
c.1045A>G (p.Ile349Val)
c.575A>G
c.*316A>G (n.*316A>G)
c.1267A>G (p.Ile423Val)
c.1071+211A>G (n.1071+211A>G)
c.1129A>G (p.Ile377Val)
c.72+211A>G (n.72+211A>G)
c.1144A>G (p.Ile382Val)
n.748A>G
n.3578A>G
c.1132A>G (p.Ile378Val)
c.1141A>G (p.Ile381Val)
n.458A>G
c.*1011A>G (n.*1011A>G)
c.471+211A>G (n.471+211A>G)
c.481A>G (p.Ile161Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.1753592T>GCA379092526CTSDc.1150A>C (p.Ile384Leu)
c.1045A>C (p.Ile349Leu)
c.575A>C
c.*316A>C (n.*316A>C)
c.1267A>C (p.Ile423Leu)
c.1071+211A>C (n.1071+211A>C)
c.1129A>C (p.Ile377Leu)
c.72+211A>C (n.72+211A>C)
c.1144A>C (p.Ile382Leu)
n.748A>C
n.3578A>C
c.1132A>C (p.Ile378Leu)
c.1141A>C (p.Ile381Leu)
n.458A>C
c.*1011A>C (n.*1011A>C)
c.471+211A>C (n.471+211A>C)
c.481A>C (p.Ile161Leu)
11g.1753592T=CA1947825126CTSDc.1150A= (p.Ile384=)
c.1045A= (p.Ile349=)
c.575A=
c.*316A= (n.*316A=)
c.1267A= (p.Ile423=)
c.1071+211A= (n.1071+211A=)
c.1129A= (p.Ile377=)
c.72+211A= (n.72+211A=)
c.1144A= (p.Ile382=)
n.748A=
n.3578A=
c.1132A= (p.Ile378=)
c.1141A= (p.Ile381=)
n.458A=
c.*1011A= (n.*1011A=)
c.471+211A= (n.471+211A=)
c.481A= (p.Ile161=)
11g.1753593C>ACA379092527CTSDc.1149G>T (p.Trp383Cys)
c.1044G>T (p.Trp348Cys)
c.574G>T
c.*315G>T (n.*315G>T)
c.1266G>T (p.Trp422Cys)
c.1071+210G>T (n.1071+210G>T)
c.1128G>T (p.Trp376Cys)
c.72+210G>T (n.72+210G>T)
c.1143G>T (p.Trp381Cys)
n.747G>T
n.3577G>T
c.1131G>T (p.Trp377Cys)
c.1140G>T (p.Trp380Cys)
n.457G>T
c.*1010G>T (n.*1010G>T)
c.471+210G>T (n.471+210G>T)
c.480G>T (p.Trp160Cys)
 gnomAD v4 COSMIC
11g.1753593C=CA1947825127CTSDc.1149G= (p.Trp383=)
c.1044G= (p.Trp348=)
c.574G=
c.*315G= (n.*315G=)
c.1266G= (p.Trp422=)
c.1071+210G= (n.1071+210G=)
c.1128G= (p.Trp376=)
c.72+210G= (n.72+210G=)
c.1143G= (p.Trp381=)
n.747G=
n.3577G=
c.1131G= (p.Trp377=)
c.1140G= (p.Trp380=)
n.457G=
c.*1010G= (n.*1010G=)
c.471+210G= (n.471+210G=)
c.480G= (p.Trp160=)
11g.1753593C>GCA258042CTSDc.1149G>C (p.Trp383Cys)
c.1044G>C (p.Trp348Cys)
c.574G>C
c.*315G>C (n.*315G>C)
c.1266G>C (p.Trp422Cys)
c.1071+210G>C (n.1071+210G>C)
c.1128G>C (p.Trp376Cys)
c.72+210G>C (n.72+210G>C)
c.1143G>C (p.Trp381Cys)
n.747G>C
n.3577G>C
c.1131G>C (p.Trp377Cys)
c.1140G>C (p.Trp380Cys)
n.457G>C
c.*1010G>C (n.*1010G>C)
c.471+210G>C (n.471+210G>C)
c.480G>C (p.Trp160Cys)
 ClinVar dbSNP
11g.1753593C>TCA379092529CTSDc.1149G>A (p.Trp383Ter)
c.1044G>A (p.Trp348Ter)
c.574G>A
c.*315G>A (n.*315G>A)
c.1266G>A (p.Trp422Ter)
c.1071+210G>A (n.1071+210G>A)
c.1128G>A (p.Trp376Ter)
c.72+210G>A (n.72+210G>A)
c.1143G>A (p.Trp381Ter)
n.747G>A
n.3577G>A
c.1131G>A (p.Trp377Ter)
c.1140G>A (p.Trp380Ter)
n.457G>A
c.*1010G>A (n.*1010G>A)
c.471+210G>A (n.471+210G>A)
c.480G>A (p.Trp160Ter)
11g.1753594C>ACA379092531CTSDc.1148G>T (p.Trp383Leu)
c.1043G>T (p.Trp348Leu)
c.573G>T
c.*314G>T (n.*314G>T)
c.1265G>T (p.Trp422Leu)
c.1071+209G>T (n.1071+209G>T)
c.1127G>T (p.Trp376Leu)
c.72+209G>T (n.72+209G>T)
c.1142G>T (p.Trp381Leu)
n.746G>T
n.3576G>T
c.1130G>T (p.Trp377Leu)
c.1139G>T (p.Trp380Leu)
n.456G>T
c.*1009G>T (n.*1009G>T)
c.471+209G>T (n.471+209G>T)
c.479G>T (p.Trp160Leu)
 gnomAD v4
11g.1753594C>GCA379092533CTSDc.1148G>C (p.Trp383Ser)
c.1043G>C (p.Trp348Ser)
c.573G>C
c.*314G>C (n.*314G>C)
c.1265G>C (p.Trp422Ser)
c.1071+209G>C (n.1071+209G>C)
c.1127G>C (p.Trp376Ser)
c.72+209G>C (n.72+209G>C)
c.1142G>C (p.Trp381Ser)
n.746G>C
n.3576G>C
c.1130G>C (p.Trp377Ser)
c.1139G>C (p.Trp380Ser)
n.456G>C
c.*1009G>C (n.*1009G>C)
c.471+209G>C (n.471+209G>C)
c.479G>C (p.Trp160Ser)
11g.1753594C>TCA379092535CTSDc.1148G>A (p.Trp383Ter)
c.1043G>A (p.Trp348Ter)
c.573G>A
c.*314G>A (n.*314G>A)
c.1265G>A (p.Trp422Ter)
c.1071+209G>A (n.1071+209G>A)
c.1127G>A (p.Trp376Ter)
c.72+209G>A (n.72+209G>A)
c.1142G>A (p.Trp381Ter)
n.746G>A
n.3576G>A
c.1130G>A (p.Trp377Ter)
c.1139G>A (p.Trp380Ter)
n.456G>A
c.*1009G>A (n.*1009G>A)
c.471+209G>A (n.471+209G>A)
c.479G>A (p.Trp160Ter)
11g.1753594_1753595delCA2573146013CTSDc.1147_1148del (p.Trp383AspfsTer15)
c.1042_1043del (p.Trp348AspfsTer15)
c.572_573del
c.*313_*314del (n.*313_*314del)
c.1264_1265del (p.Trp422AspfsTer15)
c.1071+208_1071+209del (n.1071+208_1071+209del)
c.1126_1127del (p.Trp376AspfsTer15)
c.72+208_72+209del (n.72+208_72+209del)
c.1141_1142del (p.Trp381AspfsTer15)
n.745_746del
n.3575_3576del
c.1129_1130del (p.Trp377AspfsTer15)
c.1138_1139del (p.Trp380AspfsTer15)
n.455_456del
c.*1008_*1009del (n.*1008_*1009del)
c.471+208_471+209del (n.471+208_471+209del)
c.478_479del (p.Trp160AspfsTer15)
 ClinVar dbSNP
11g.1753595A>CCA379092537CTSDc.1147T>G (p.Trp383Gly)
c.1042T>G (p.Trp348Gly)
c.572T>G
c.*313T>G (n.*313T>G)
c.1264T>G (p.Trp422Gly)
c.1071+208T>G (n.1071+208T>G)
c.1126T>G (p.Trp376Gly)
c.72+208T>G (n.72+208T>G)
c.1141T>G (p.Trp381Gly)
n.745T>G
n.3575T>G
c.1129T>G (p.Trp377Gly)
c.1138T>G (p.Trp380Gly)
n.455T>G
c.*1008T>G (n.*1008T>G)
c.471+208T>G (n.471+208T>G)
c.478T>G (p.Trp160Gly)
11g.1753595A>GCA379092539CTSDc.1147T>C (p.Trp383Arg)
c.1042T>C (p.Trp348Arg)
c.572T>C
c.*313T>C (n.*313T>C)
c.1264T>C (p.Trp422Arg)
c.1071+208T>C (n.1071+208T>C)
c.1126T>C (p.Trp376Arg)
c.72+208T>C (n.72+208T>C)
c.1141T>C (p.Trp381Arg)
n.745T>C
n.3575T>C
c.1129T>C (p.Trp377Arg)
c.1138T>C (p.Trp380Arg)
n.455T>C
c.*1008T>C (n.*1008T>C)
c.471+208T>C (n.471+208T>C)
c.478T>C (p.Trp160Arg)
11g.1753595A>TCA379092540CTSDc.1147T>A (p.Trp383Arg)
c.1042T>A (p.Trp348Arg)
c.572T>A
c.*313T>A (n.*313T>A)
c.1264T>A (p.Trp422Arg)
c.1071+208T>A (n.1071+208T>A)
c.1126T>A (p.Trp376Arg)
c.72+208T>A (n.72+208T>A)
c.1141T>A (p.Trp381Arg)
n.745T>A
n.3575T>A
c.1129T>A (p.Trp377Arg)
c.1138T>A (p.Trp380Arg)
n.455T>A
c.*1008T>A (n.*1008T>A)
c.471+208T>A (n.471+208T>A)
c.478T>A (p.Trp160Arg)
11g.1753597_1753598delCA2580616896CTSDc.1146_1147del (p.Trp383AspfsTer15)
c.1041_1042del (p.Trp348AspfsTer15)
c.571_572del
c.*312_*313del (n.*312_*313del)
c.1263_1264del (p.Trp422AspfsTer15)
c.1071+207_1071+208del (n.1071+207_1071+208del)
c.1125_1126del (p.Trp376AspfsTer15)
c.72+207_72+208del (n.72+207_72+208del)
c.1140_1141del (p.Trp381AspfsTer15)
n.744_745del
n.3574_3575del
c.1128_1129del (p.Trp377AspfsTer15)
c.1137_1138del (p.Trp380AspfsTer15)
n.454_455del
c.*1007_*1008del (n.*1007_*1008del)
c.471+207_471+208del (n.471+207_471+208del)
c.477_478del (p.Trp160AspfsTer15)
 ClinVar dbSNP
11g.1753596G>ACA472140461CTSDc.1146C>T (p.Leu382=)
c.1041C>T (p.Leu347=)
c.571C>T
c.*312C>T (n.*312C>T)
c.1263C>T (p.Leu421=)
c.1071+207C>T (n.1071+207C>T)
c.1125C>T (p.Leu375=)
c.72+207C>T (n.72+207C>T)
c.1140C>T (p.Leu380=)
n.744C>T
n.3574C>T
c.1128C>T (p.Leu376=)
c.1137C>T (p.Leu379=)
n.454C>T
c.*1007C>T (n.*1007C>T)
c.471+207C>T (n.471+207C>T)
c.477C>T (p.Leu159=)
11g.1753596G>CCA216168676CTSDc.1146C>G (p.Leu382=)
c.1041C>G (p.Leu347=)
c.571C>G
c.*312C>G (n.*312C>G)
c.1263C>G (p.Leu421=)
c.1071+207C>G (n.1071+207C>G)
c.1125C>G (p.Leu375=)
c.72+207C>G (n.72+207C>G)
c.1140C>G (p.Leu380=)
n.744C>G
n.3574C>G
c.1128C>G (p.Leu376=)
c.1137C>G (p.Leu379=)
n.454C>G
c.*1007C>G (n.*1007C>G)
c.471+207C>G (n.471+207C>G)
c.477C>G (p.Leu159=)
 ClinVar dbSNP gnomAD v4 COSMIC
11g.1753596G=CA1947825128CTSDc.1146C= (p.Leu382=)
c.1041C= (p.Leu347=)
c.571C=
c.*312C= (n.*312C=)
c.1263C= (p.Leu421=)
c.1071+207C= (n.1071+207C=)
c.1125C= (p.Leu375=)
c.72+207C= (n.72+207C=)
c.1140C= (p.Leu380=)
n.744C=
n.3574C=
c.1128C= (p.Leu376=)
c.1137C= (p.Leu379=)
n.454C=
c.*1007C= (n.*1007C=)
c.471+207C= (n.471+207C=)
c.477C= (p.Leu159=)
11g.1753596G>TCA472140458CTSDc.1146C>A (p.Leu382=)
c.1041C>A (p.Leu347=)
c.571C>A
c.*312C>A (n.*312C>A)
c.1263C>A (p.Leu421=)
c.1071+207C>A (n.1071+207C>A)
c.1125C>A (p.Leu375=)
c.72+207C>A (n.72+207C>A)
c.1140C>A (p.Leu380=)
n.744C>A
n.3574C>A
c.1128C>A (p.Leu376=)
c.1137C>A (p.Leu379=)
n.454C>A
c.*1007C>A (n.*1007C>A)
c.471+207C>A (n.471+207C>A)
c.477C>A (p.Leu159=)
11g.1753597A>CCA379092541CTSDc.1145T>G (p.Leu382Arg)
c.1040T>G (p.Leu347Arg)
c.570T>G
c.*311T>G (n.*311T>G)
c.1262T>G (p.Leu421Arg)
c.1071+206T>G (n.1071+206T>G)
c.1124T>G (p.Leu375Arg)
c.72+206T>G (n.72+206T>G)
c.1139T>G (p.Leu380Arg)
n.743T>G
n.3573T>G
c.1127T>G (p.Leu376Arg)
c.1136T>G (p.Leu379Arg)
n.453T>G
c.*1006T>G (n.*1006T>G)
c.471+206T>G (n.471+206T>G)
c.476T>G (p.Leu159Arg)
11g.1753597A>GCA379092543CTSDc.1145T>C (p.Leu382Pro)
c.1040T>C (p.Leu347Pro)
c.570T>C
c.*311T>C (n.*311T>C)
c.1262T>C (p.Leu421Pro)
c.1071+206T>C (n.1071+206T>C)
c.1124T>C (p.Leu375Pro)
c.72+206T>C (n.72+206T>C)
c.1139T>C (p.Leu380Pro)
n.743T>C
n.3573T>C
c.1127T>C (p.Leu376Pro)
c.1136T>C (p.Leu379Pro)
n.453T>C
c.*1006T>C (n.*1006T>C)
c.471+206T>C (n.471+206T>C)
c.476T>C (p.Leu159Pro)
11g.1753597A>TCA379092542CTSDc.1145T>A (p.Leu382His)
c.1040T>A (p.Leu347His)
c.570T>A
c.*311T>A (n.*311T>A)
c.1262T>A (p.Leu421His)
c.1071+206T>A (n.1071+206T>A)
c.1124T>A (p.Leu375His)
c.72+206T>A (n.72+206T>A)
c.1139T>A (p.Leu380His)
n.743T>A
n.3573T>A
c.1127T>A (p.Leu376His)
c.1136T>A (p.Leu379His)
n.453T>A
c.*1006T>A (n.*1006T>A)
c.471+206T>A (n.471+206T>A)
c.476T>A (p.Leu159His)
11g.1753598G>ACA379092544CTSDc.1144C>T (p.Leu382Phe)
c.1039C>T (p.Leu347Phe)
c.569C>T
c.*310C>T (n.*310C>T)
c.1261C>T (p.Leu421Phe)
c.1071+205C>T (n.1071+205C>T)
c.1123C>T (p.Leu375Phe)
c.72+205C>T (n.72+205C>T)
c.1138C>T (p.Leu380Phe)
n.742C>T
n.3572C>T
c.1126C>T (p.Leu376Phe)
c.1135C>T (p.Leu379Phe)
n.452C>T
c.*1005C>T (n.*1005C>T)
c.471+205C>T (n.471+205C>T)
c.475C>T (p.Leu159Phe)
11g.1753598G>CCA379092546CTSDc.1144C>G (p.Leu382Val)
c.1039C>G (p.Leu347Val)
c.569C>G
c.*310C>G (n.*310C>G)
c.1261C>G (p.Leu421Val)
c.1071+205C>G (n.1071+205C>G)
c.1123C>G (p.Leu375Val)
c.72+205C>G (n.72+205C>G)
c.1138C>G (p.Leu380Val)
n.742C>G
n.3572C>G
c.1126C>G (p.Leu376Val)
c.1135C>G (p.Leu379Val)
n.452C>G
c.*1005C>G (n.*1005C>G)
c.471+205C>G (n.471+205C>G)
c.475C>G (p.Leu159Val)
11g.1753598G>TCA379092545CTSDc.1144C>A (p.Leu382Ile)
c.1039C>A (p.Leu347Ile)
c.569C>A
c.*310C>A (n.*310C>A)
c.1261C>A (p.Leu421Ile)
c.1071+205C>A (n.1071+205C>A)
c.1123C>A (p.Leu375Ile)
c.72+205C>A (n.72+205C>A)
c.1138C>A (p.Leu380Ile)
n.742C>A
n.3572C>A
c.1126C>A (p.Leu376Ile)
c.1135C>A (p.Leu379Ile)
n.452C>A
c.*1005C>A (n.*1005C>A)
c.471+205C>A (n.471+205C>A)
c.475C>A (p.Leu159Ile)
11g.1753599T>ACA472140478CTSDc.1143A>T (p.Pro381=)
c.1038A>T (p.Pro346=)
c.568A>T
c.*309A>T (n.*309A>T)
c.1260A>T (p.Pro420=)
c.1071+204A>T (n.1071+204A>T)
c.1122A>T (p.Pro374=)
c.72+204A>T (n.72+204A>T)
c.1137A>T (p.Pro379=)
n.741A>T
n.3571A>T
c.1125A>T (p.Pro375=)
c.1134A>T (p.Pro378=)
n.451A>T
c.*1004A>T (n.*1004A>T)
c.471+204A>T (n.471+204A>T)
c.474A>T (p.Pro158=)
11g.1753599T>CCA472140481CTSDc.1143A>G (p.Pro381=)
c.1038A>G (p.Pro346=)
c.568A>G
c.*309A>G (n.*309A>G)
c.1260A>G (p.Pro420=)
c.1071+204A>G (n.1071+204A>G)
c.1122A>G (p.Pro374=)
c.72+204A>G (n.72+204A>G)
c.1137A>G (p.Pro379=)
n.741A>G
n.3571A>G
c.1125A>G (p.Pro375=)
c.1134A>G (p.Pro378=)
n.451A>G
c.*1004A>G (n.*1004A>G)
c.471+204A>G (n.471+204A>G)
c.474A>G (p.Pro158=)
 dbSNP gnomAD v4
11g.1753599T>GCA472140485CTSDc.1143A>C (p.Pro381=)
c.1038A>C (p.Pro346=)
c.568A>C
c.*309A>C (n.*309A>C)
c.1260A>C (p.Pro420=)
c.1071+204A>C (n.1071+204A>C)
c.1122A>C (p.Pro374=)
c.72+204A>C (n.72+204A>C)
c.1137A>C (p.Pro379=)
n.741A>C
n.3571A>C
c.1125A>C (p.Pro375=)
c.1134A>C (p.Pro378=)
n.451A>C
c.*1004A>C (n.*1004A>C)
c.471+204A>C (n.471+204A>C)
c.474A>C (p.Pro158=)
11g.1753599T=CA1947825129CTSDc.1143A= (p.Pro381=)
c.1038A= (p.Pro346=)
c.568A=
c.*309A= (n.*309A=)
c.1260A= (p.Pro420=)
c.1071+204A= (n.1071+204A=)
c.1122A= (p.Pro374=)
c.72+204A= (n.72+204A=)
c.1137A= (p.Pro379=)
n.741A=
n.3571A=
c.1125A= (p.Pro375=)
c.1134A= (p.Pro378=)
n.451A=
c.*1004A= (n.*1004A=)
c.471+204A= (n.471+204A=)
c.474A= (p.Pro158=)
11g.1753600G>ACA379092548CTSDc.1142C>T (p.Pro381Leu)
c.1037C>T (p.Pro346Leu)
c.567C>T
c.*308C>T (n.*308C>T)
c.1259C>T (p.Pro420Leu)
c.1071+203C>T (n.1071+203C>T)
c.1121C>T (p.Pro374Leu)
c.72+203C>T (n.72+203C>T)
c.1136C>T (p.Pro379Leu)
n.740C>T
n.3570C>T
c.1124C>T (p.Pro375Leu)
c.1133C>T (p.Pro378Leu)
n.450C>T
c.*1003C>T (n.*1003C>T)
c.471+203C>T (n.471+203C>T)
c.473C>T (p.Pro158Leu)
11g.1753600G>CCA379092550CTSDc.1142C>G (p.Pro381Arg)
c.1037C>G (p.Pro346Arg)
c.567C>G
c.*308C>G (n.*308C>G)
c.1259C>G (p.Pro420Arg)
c.1071+203C>G (n.1071+203C>G)
c.1121C>G (p.Pro374Arg)
c.72+203C>G (n.72+203C>G)
c.1136C>G (p.Pro379Arg)
n.740C>G
n.3570C>G
c.1124C>G (p.Pro375Arg)
c.1133C>G (p.Pro378Arg)
n.450C>G
c.*1003C>G (n.*1003C>G)
c.471+203C>G (n.471+203C>G)
c.473C>G (p.Pro158Arg)
11g.1753600G>TCA379092551CTSDc.1142C>A (p.Pro381Gln)
c.1037C>A (p.Pro346Gln)
c.567C>A
c.*308C>A (n.*308C>A)
c.1259C>A (p.Pro420Gln)
c.1071+203C>A (n.1071+203C>A)
c.1121C>A (p.Pro374Gln)
c.72+203C>A (n.72+203C>A)
c.1136C>A (p.Pro379Gln)
n.740C>A
n.3570C>A
c.1124C>A (p.Pro375Gln)
c.1133C>A (p.Pro378Gln)
n.450C>A
c.*1003C>A (n.*1003C>A)
c.471+203C>A (n.471+203C>A)
c.473C>A (p.Pro158Gln)
11g.1753601delCA2574736128CTSDc.1142del (p.Pro381HisfsTer?)
c.1037del (p.Pro346HisfsTer?)
c.567del
c.*308del (n.*308del)
c.1259del (p.Pro420HisfsTer?)
c.1071+203del (n.1071+203del)
c.1121del (p.Pro374HisfsTer?)
c.72+203del (n.72+203del)
c.1136del (p.Pro379HisfsTer?)
n.740del
n.3570del
c.1124del (p.Pro375HisfsTer?)
c.1133del (p.Pro378HisfsTer?)
n.450del
c.*1003del (n.*1003del)
c.471+203del (n.471+203del)
c.473del (p.Pro158HisfsTer?)
 ClinVar
11g.1753601G>ACA379092556CTSDc.1141C>T (p.Pro381Ser)
c.1036C>T (p.Pro346Ser)
c.566C>T
c.*307C>T (n.*307C>T)
c.1258C>T (p.Pro420Ser)
c.1071+202C>T (n.1071+202C>T)
c.1120C>T (p.Pro374Ser)
c.72+202C>T (n.72+202C>T)
c.1135C>T (p.Pro379Ser)
n.739C>T
n.3569C>T
c.1123C>T (p.Pro375Ser)
c.1132C>T (p.Pro378Ser)
n.449C>T
c.*1002C>T (n.*1002C>T)
c.471+202C>T (n.471+202C>T)
c.472C>T (p.Pro158Ser)
 gnomAD v4
11g.1753601G>CCA379092558CTSDc.1141C>G (p.Pro381Ala)
c.1036C>G (p.Pro346Ala)
c.566C>G
c.*307C>G (n.*307C>G)
c.1258C>G (p.Pro420Ala)
c.1071+202C>G (n.1071+202C>G)
c.1120C>G (p.Pro374Ala)
c.72+202C>G (n.72+202C>G)
c.1135C>G (p.Pro379Ala)
n.739C>G
n.3569C>G
c.1123C>G (p.Pro375Ala)
c.1132C>G (p.Pro378Ala)
n.449C>G
c.*1002C>G (n.*1002C>G)
c.471+202C>G (n.471+202C>G)
c.472C>G (p.Pro158Ala)
11g.1753601G>TCA379092559CTSDc.1141C>A (p.Pro381Thr)
c.1036C>A (p.Pro346Thr)
c.566C>A
c.*307C>A (n.*307C>A)
c.1258C>A (p.Pro420Thr)
c.1071+202C>A (n.1071+202C>A)
c.1120C>A (p.Pro374Thr)
c.72+202C>A (n.72+202C>A)
c.1135C>A (p.Pro379Thr)
n.739C>A
n.3569C>A
c.1123C>A (p.Pro375Thr)
c.1132C>A (p.Pro378Thr)
n.449C>A
c.*1002C>A (n.*1002C>A)
c.471+202C>A (n.471+202C>A)
c.472C>A (p.Pro158Thr)
11g.1753602C>ACA472140504CTSDc.1140G>T (p.Gly380=)
c.1035G>T (p.Gly345=)
c.565G>T
c.*306G>T (n.*306G>T)
c.1257G>T (p.Gly419=)
c.1071+201G>T (n.1071+201G>T)
c.1119G>T (p.Gly373=)
c.72+201G>T (n.72+201G>T)
c.1134G>T (p.Gly378=)
n.738G>T
n.3568G>T
c.1122G>T (p.Gly374=)
c.1131G>T (p.Gly377=)
n.448G>T
c.*1001G>T (n.*1001G>T)
c.471+201G>T (n.471+201G>T)
c.471G>T (p.Gly157=)
 gnomAD v4
11g.1753602C=CA1947825130CTSDc.1140G= (p.Gly380=)
c.1035G= (p.Gly345=)
c.565G=
c.*306G= (n.*306G=)
c.1257G= (p.Gly419=)
c.1071+201G= (n.1071+201G=)
c.1119G= (p.Gly373=)
c.72+201G= (n.72+201G=)
c.1134G= (p.Gly378=)
n.738G=
n.3568G=
c.1122G= (p.Gly374=)
c.1131G= (p.Gly377=)
n.448G=
c.*1001G= (n.*1001G=)
c.471+201G= (n.471+201G=)
c.471G= (p.Gly157=)
11g.1753602C>GCA472140506CTSDc.1140G>C (p.Gly380=)
c.1035G>C (p.Gly345=)
c.565G>C
c.*306G>C (n.*306G>C)
c.1257G>C (p.Gly419=)
c.1071+201G>C (n.1071+201G>C)
c.1119G>C (p.Gly373=)
c.72+201G>C (n.72+201G>C)
c.1134G>C (p.Gly378=)
n.738G>C
n.3568G>C
c.1122G>C (p.Gly374=)
c.1131G>C (p.Gly377=)
n.448G>C
c.*1001G>C (n.*1001G>C)
c.471+201G>C (n.471+201G>C)
c.471G>C (p.Gly157=)
11g.1753602C>TCA5813888CTSDc.1140G>A (p.Gly380=)
c.1035G>A (p.Gly345=)
c.565G>A
c.*306G>A (n.*306G>A)
c.1257G>A (p.Gly419=)
c.1071+201G>A (n.1071+201G>A)
c.1119G>A (p.Gly373=)
c.72+201G>A (n.72+201G>A)
c.1134G>A (p.Gly378=)
n.738G>A
n.3568G>A
c.1122G>A (p.Gly374=)
c.1131G>A (p.Gly377=)
n.448G>A
c.*1001G>A (n.*1001G>A)
c.471+201G>A (n.471+201G>A)
c.471G>A (p.Gly157=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1753603C>ACA379092561CTSDc.1139G>T (p.Gly380Val)
c.1034G>T (p.Gly345Val)
c.564G>T
c.*305G>T (n.*305G>T)
c.1256G>T (p.Gly419Val)
c.1071+200G>T (n.1071+200G>T)
c.1118G>T (p.Gly373Val)
c.72+200G>T (n.72+200G>T)
c.1133G>T (p.Gly378Val)
n.737G>T
n.3567G>T
c.1121G>T (p.Gly374Val)
c.1130G>T (p.Gly377Val)
n.447G>T
c.*1000G>T (n.*1000G>T)
c.471+200G>T (n.471+200G>T)
c.470G>T (p.Gly157Val)
 COSMIC
11g.1753603C=CA1947825131CTSDc.1139G= (p.Gly380=)
c.1034G= (p.Gly345=)
c.564G=
c.*305G= (n.*305G=)
c.1256G= (p.Gly419=)
c.1071+200G= (n.1071+200G=)
c.1118G= (p.Gly373=)
c.72+200G= (n.72+200G=)
c.1133G= (p.Gly378=)
n.737G=
n.3567G=
c.1121G= (p.Gly374=)
c.1130G= (p.Gly377=)
n.447G=
c.*1000G= (n.*1000G=)
c.471+200G= (n.471+200G=)
c.470G= (p.Gly157=)
11g.1753603C>GCA379092563CTSDc.1139G>C (p.Gly380Ala)
c.1034G>C (p.Gly345Ala)
c.564G>C
c.*305G>C (n.*305G>C)
c.1256G>C (p.Gly419Ala)
c.1071+200G>C (n.1071+200G>C)
c.1118G>C (p.Gly373Ala)
c.72+200G>C (n.72+200G>C)
c.1133G>C (p.Gly378Ala)
n.737G>C
n.3567G>C
c.1121G>C (p.Gly374Ala)
c.1130G>C (p.Gly377Ala)
n.447G>C
c.*1000G>C (n.*1000G>C)
c.471+200G>C (n.471+200G>C)
c.470G>C (p.Gly157Ala)
11g.1753603C>TCA379092565CTSDc.1139G>A (p.Gly380Glu)
c.1034G>A (p.Gly345Glu)
c.564G>A
c.*305G>A (n.*305G>A)
c.1256G>A (p.Gly419Glu)
c.1071+200G>A (n.1071+200G>A)
c.1118G>A (p.Gly373Glu)
c.72+200G>A (n.72+200G>A)
c.1133G>A (p.Gly378Glu)
n.737G>A
n.3567G>A
c.1121G>A (p.Gly374Glu)
c.1130G>A (p.Gly377Glu)
n.447G>A
c.*1000G>A (n.*1000G>A)
c.471+200G>A (n.471+200G>A)
c.470G>A (p.Gly157Glu)
 dbSNP
11g.1753604C>ACA379092570CTSDc.1138G>T (p.Gly380Trp)
c.1033G>T (p.Gly345Trp)
c.563G>T
c.*304G>T (n.*304G>T)
c.1255G>T (p.Gly419Trp)
c.1071+199G>T (n.1071+199G>T)
c.1117G>T (p.Gly373Trp)
c.72+199G>T (n.72+199G>T)
c.1132G>T (p.Gly378Trp)
n.736G>T
n.3566G>T
c.1120G>T (p.Gly374Trp)
c.1129G>T (p.Gly377Trp)
n.446G>T
c.*999G>T (n.*999G>T)
c.471+199G>T (n.471+199G>T)
c.469G>T (p.Gly157Trp)
 gnomAD v4
11g.1753604C=CA1947825132CTSDc.1138G= (p.Gly380=)
c.1033G= (p.Gly345=)
c.563G=
c.*304G= (n.*304G=)
c.1255G= (p.Gly419=)
c.1071+199G= (n.1071+199G=)
c.1117G= (p.Gly373=)
c.72+199G= (n.72+199G=)
c.1132G= (p.Gly378=)
n.736G=
n.3566G=
c.1120G= (p.Gly374=)
c.1129G= (p.Gly377=)
n.446G=
c.*999G= (n.*999G=)
c.471+199G= (n.471+199G=)
c.469G= (p.Gly157=)
11g.1753604C>GCA379092568CTSDc.1138G>C (p.Gly380Arg)
c.1033G>C (p.Gly345Arg)
c.563G>C
c.*304G>C (n.*304G>C)
c.1255G>C (p.Gly419Arg)
c.1071+199G>C (n.1071+199G>C)
c.1117G>C (p.Gly373Arg)
c.72+199G>C (n.72+199G>C)
c.1132G>C (p.Gly378Arg)
n.736G>C
n.3566G>C
c.1120G>C (p.Gly374Arg)
c.1129G>C (p.Gly377Arg)
n.446G>C
c.*999G>C (n.*999G>C)
c.471+199G>C (n.471+199G>C)
c.469G>C (p.Gly157Arg)
11g.1753604C>TCA216168695CTSDc.1138G>A (p.Gly380Arg)
c.1033G>A (p.Gly345Arg)
c.563G>A
c.*304G>A (n.*304G>A)
c.1255G>A (p.Gly419Arg)
c.1071+199G>A (n.1071+199G>A)
c.1117G>A (p.Gly373Arg)
c.72+199G>A (n.72+199G>A)
c.1132G>A (p.Gly378Arg)
n.736G>A
n.3566G>A
c.1120G>A (p.Gly374Arg)
c.1129G>A (p.Gly377Arg)
n.446G>A
c.*999G>A (n.*999G>A)
c.471+199G>A (n.471+199G>A)
c.469G>A (p.Gly157Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.1753605G>ACA152533CTSDc.1137C>T (p.Ser379=)
c.1032C>T (p.Ser344=)
c.562C>T
c.*303C>T (n.*303C>T)
c.1254C>T (p.Ser418=)
c.1071+198C>T (n.1071+198C>T)
c.1116C>T (p.Ser372=)
c.72+198C>T (n.72+198C>T)
c.1131C>T (p.Ser377=)
n.735C>T
n.3565C>T
c.1119C>T (p.Ser373=)
c.1128C>T (p.Ser376=)
n.445C>T
c.*998C>T (n.*998C>T)
c.471+198C>T (n.471+198C>T)
c.468C>T (p.Ser156=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1753605G>CCA379092571CTSDc.1137C>G (p.Ser379Arg)
c.1032C>G (p.Ser344Arg)
c.562C>G
c.*303C>G (n.*303C>G)
c.1254C>G (p.Ser418Arg)
c.1071+198C>G (n.1071+198C>G)
c.1116C>G (p.Ser372Arg)
c.72+198C>G (n.72+198C>G)
c.1131C>G (p.Ser377Arg)
n.735C>G
n.3565C>G
c.1119C>G (p.Ser373Arg)
c.1128C>G (p.Ser376Arg)
n.445C>G
c.*998C>G (n.*998C>G)
c.471+198C>G (n.471+198C>G)
c.468C>G (p.Ser156Arg)
11g.1753605G=CA1947825133CTSDc.1137C= (p.Ser379=)
c.1032C= (p.Ser344=)
c.562C=
c.*303C= (n.*303C=)
c.1254C= (p.Ser418=)
c.1071+198C= (n.1071+198C=)
c.1116C= (p.Ser372=)
c.72+198C= (n.72+198C=)
c.1131C= (p.Ser377=)
n.735C=
n.3565C=
c.1119C= (p.Ser373=)
c.1128C= (p.Ser376=)
n.445C=
c.*998C= (n.*998C=)
c.471+198C= (n.471+198C=)
c.468C= (p.Ser156=)
11g.1753605G>TCA379092572CTSDc.1137C>A (p.Ser379Arg)
c.1032C>A (p.Ser344Arg)
c.562C>A
c.*303C>A (n.*303C>A)
c.1254C>A (p.Ser418Arg)
c.1071+198C>A (n.1071+198C>A)
c.1116C>A (p.Ser372Arg)
c.72+198C>A (n.72+198C>A)
c.1131C>A (p.Ser377Arg)
n.735C>A
n.3565C>A
c.1119C>A (p.Ser373Arg)
c.1128C>A (p.Ser376Arg)
n.445C>A
c.*998C>A (n.*998C>A)
c.471+198C>A (n.471+198C>A)
c.468C>A (p.Ser156Arg)
 gnomAD v4
11g.1753606C>ACA379092573CTSDc.1136G>T (p.Ser379Ile)
c.1031G>T (p.Ser344Ile)
c.561G>T
c.*302G>T (n.*302G>T)
c.1253G>T (p.Ser418Ile)
c.1071+197G>T (n.1071+197G>T)
c.1115G>T (p.Ser372Ile)
c.72+197G>T (n.72+197G>T)
c.1130G>T (p.Ser377Ile)
n.734G>T
n.3564G>T
c.1118G>T (p.Ser373Ile)
c.1127G>T (p.Ser376Ile)
n.444G>T
c.*997G>T (n.*997G>T)
c.471+197G>T (n.471+197G>T)
c.467G>T (p.Ser156Ile)
11g.1753606C=CA1947825134CTSDc.1136G= (p.Ser379=)
c.1031G= (p.Ser344=)
c.561G=
c.*302G= (n.*302G=)
c.1253G= (p.Ser418=)
c.1071+197G= (n.1071+197G=)
c.1115G= (p.Ser372=)
c.72+197G= (n.72+197G=)
c.1130G= (p.Ser377=)
n.734G=
n.3564G=
c.1118G= (p.Ser373=)
c.1127G= (p.Ser376=)
n.444G=
c.*997G= (n.*997G=)
c.471+197G= (n.471+197G=)
c.467G= (p.Ser156=)
11g.1753606C>GCA379092574CTSDc.1136G>C (p.Ser379Thr)
c.1031G>C (p.Ser344Thr)
c.561G>C
c.*302G>C (n.*302G>C)
c.1253G>C (p.Ser418Thr)
c.1071+197G>C (n.1071+197G>C)
c.1115G>C (p.Ser372Thr)
c.72+197G>C (n.72+197G>C)
c.1130G>C (p.Ser377Thr)
n.734G>C
n.3564G>C
c.1118G>C (p.Ser373Thr)
c.1127G>C (p.Ser376Thr)
n.444G>C
c.*997G>C (n.*997G>C)
c.471+197G>C (n.471+197G>C)
c.467G>C (p.Ser156Thr)
11g.1753606C>TCA379092575CTSDc.1136G>A (p.Ser379Asn)
c.1031G>A (p.Ser344Asn)
c.561G>A
c.*302G>A (n.*302G>A)
c.1253G>A (p.Ser418Asn)
c.1071+197G>A (n.1071+197G>A)
c.1115G>A (p.Ser372Asn)
c.72+197G>A (n.72+197G>A)
c.1130G>A (p.Ser377Asn)
n.734G>A
n.3564G>A
c.1118G>A (p.Ser373Asn)
c.1127G>A (p.Ser376Asn)
n.444G>A
c.*997G>A (n.*997G>A)
c.471+197G>A (n.471+197G>A)
c.467G>A (p.Ser156Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.1753607T>ACA379092577CTSDc.1135A>T (p.Ser379Cys)
c.1030A>T (p.Ser344Cys)
c.560A>T
c.*301A>T (n.*301A>T)
c.1252A>T (p.Ser418Cys)
c.1071+196A>T (n.1071+196A>T)
c.1114A>T (p.Ser372Cys)
c.72+196A>T (n.72+196A>T)
c.1129A>T (p.Ser377Cys)
n.733A>T
n.3563A>T
c.1117A>T (p.Ser373Cys)
c.1126A>T (p.Ser376Cys)
n.443A>T
c.*996A>T (n.*996A>T)
c.471+196A>T (n.471+196A>T)
c.466A>T (p.Ser156Cys)
11g.1753607T>CCA379092580CTSDc.1135A>G (p.Ser379Gly)
c.1030A>G (p.Ser344Gly)
c.560A>G
c.*301A>G (n.*301A>G)
c.1252A>G (p.Ser418Gly)
c.1071+196A>G (n.1071+196A>G)
c.1114A>G (p.Ser372Gly)
c.72+196A>G (n.72+196A>G)
c.1129A>G (p.Ser377Gly)
n.733A>G
n.3563A>G
c.1117A>G (p.Ser373Gly)
c.1126A>G (p.Ser376Gly)
n.443A>G
c.*996A>G (n.*996A>G)
c.471+196A>G (n.471+196A>G)
c.466A>G (p.Ser156Gly)
 dbSNP gnomAD v4
11g.1753607T>GCA379092582CTSDc.1135A>C (p.Ser379Arg)
c.1030A>C (p.Ser344Arg)
c.560A>C
c.*301A>C (n.*301A>C)
c.1252A>C (p.Ser418Arg)
c.1071+196A>C (n.1071+196A>C)
c.1114A>C (p.Ser372Arg)
c.72+196A>C (n.72+196A>C)
c.1129A>C (p.Ser377Arg)
n.733A>C
n.3563A>C
c.1117A>C (p.Ser373Arg)
c.1126A>C (p.Ser376Arg)
n.443A>C
c.*996A>C (n.*996A>C)
c.471+196A>C (n.471+196A>C)
c.466A>C (p.Ser156Arg)
11g.1753607T=CA1947825135CTSDc.1135A= (p.Ser379=)
c.1030A= (p.Ser344=)
c.560A=
c.*301A= (n.*301A=)
c.1252A= (p.Ser418=)
c.1071+196A= (n.1071+196A=)
c.1114A= (p.Ser372=)
c.72+196A= (n.72+196A=)
c.1129A= (p.Ser377=)
n.733A=
n.3563A=
c.1117A= (p.Ser373=)
c.1126A= (p.Ser376=)
n.443A=
c.*996A= (n.*996A=)
c.471+196A= (n.471+196A=)
c.466A= (p.Ser156=)
11g.1753608G>ACA5813889CTSDc.1134C>T (p.Pro378=)
c.1029C>T (p.Pro343=)
c.559C>T
c.*300C>T (n.*300C>T)
c.1251C>T (p.Pro417=)
c.1071+195C>T (n.1071+195C>T)
c.1113C>T (p.Pro371=)
c.72+195C>T (n.72+195C>T)
c.1128C>T (p.Pro376=)
n.732C>T
n.3562C>T
c.1116C>T (p.Pro372=)
c.1125C>T (p.Pro375=)
n.442C>T
c.*995C>T (n.*995C>T)
c.471+195C>T (n.471+195C>T)
c.465C>T (p.Pro155=)
 dbSNP ExAC gnomAD v2
11g.1753608G>CCA472140530CTSDc.1134C>G (p.Pro378=)
c.1029C>G (p.Pro343=)
c.559C>G
c.*300C>G (n.*300C>G)
c.1251C>G (p.Pro417=)
c.1071+195C>G (n.1071+195C>G)
c.1113C>G (p.Pro371=)
c.72+195C>G (n.72+195C>G)
c.1128C>G (p.Pro376=)
n.732C>G
n.3562C>G
c.1116C>G (p.Pro372=)
c.1125C>G (p.Pro375=)
n.442C>G
c.*995C>G (n.*995C>G)
c.471+195C>G (n.471+195C>G)
c.465C>G (p.Pro155=)
11g.1753608G=CA1947825136CTSDc.1134C= (p.Pro378=)
c.1029C= (p.Pro343=)
c.559C=
c.*300C= (n.*300C=)
c.1251C= (p.Pro417=)
c.1071+195C= (n.1071+195C=)
c.1113C= (p.Pro371=)
c.72+195C= (n.72+195C=)
c.1128C= (p.Pro376=)
n.732C=
n.3562C=
c.1116C= (p.Pro372=)
c.1125C= (p.Pro375=)
n.442C=
c.*995C= (n.*995C=)
c.471+195C= (n.471+195C=)
c.465C= (p.Pro155=)
11g.1753608G>TCA472140532CTSDc.1134C>A (p.Pro378=)
c.1029C>A (p.Pro343=)
c.559C>A
c.*300C>A (n.*300C>A)
c.1251C>A (p.Pro417=)
c.1071+195C>A (n.1071+195C>A)
c.1113C>A (p.Pro371=)
c.72+195C>A (n.72+195C>A)
c.1128C>A (p.Pro376=)
n.732C>A
n.3562C>A
c.1116C>A (p.Pro372=)
c.1125C>A (p.Pro375=)
n.442C>A
c.*995C>A (n.*995C>A)
c.471+195C>A (n.471+195C>A)
c.465C>A (p.Pro155=)
11g.1753609G>ACA379092588CTSDc.1133C>T (p.Pro378Leu)
c.1028C>T (p.Pro343Leu)
c.558C>T
c.*299C>T (n.*299C>T)
c.1250C>T (p.Pro417Leu)
c.1071+194C>T (n.1071+194C>T)
c.1112C>T (p.Pro371Leu)
c.72+194C>T (n.72+194C>T)
c.1127C>T (p.Pro376Leu)
n.731C>T
n.3561C>T
c.1115C>T (p.Pro372Leu)
c.1124C>T (p.Pro375Leu)
n.441C>T
c.*994C>T (n.*994C>T)
c.471+194C>T (n.471+194C>T)
c.464C>T (p.Pro155Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.1753609G>CCA379092589CTSDc.1133C>G (p.Pro378Arg)
c.1028C>G (p.Pro343Arg)
c.558C>G
c.*299C>G (n.*299C>G)
c.1250C>G (p.Pro417Arg)
c.1071+194C>G (n.1071+194C>G)
c.1112C>G (p.Pro371Arg)
c.72+194C>G (n.72+194C>G)
c.1127C>G (p.Pro376Arg)
n.731C>G
n.3561C>G
c.1115C>G (p.Pro372Arg)
c.1124C>G (p.Pro375Arg)
n.441C>G
c.*994C>G (n.*994C>G)
c.471+194C>G (n.471+194C>G)
c.464C>G (p.Pro155Arg)
 gnomAD v4
11g.1753609G=CA1947825137CTSDc.1133C= (p.Pro378=)
c.1028C= (p.Pro343=)
c.558C=
c.*299C= (n.*299C=)
c.1250C= (p.Pro417=)
c.1071+194C= (n.1071+194C=)
c.1112C= (p.Pro371=)
c.72+194C= (n.72+194C=)
c.1127C= (p.Pro376=)
n.731C=
n.3561C=
c.1115C= (p.Pro372=)
c.1124C= (p.Pro375=)
n.441C=
c.*994C= (n.*994C=)
c.471+194C= (n.471+194C=)
c.464C= (p.Pro155=)
11g.1753609G>TCA379092586CTSDc.1133C>A (p.Pro378His)
c.1028C>A (p.Pro343His)
c.558C>A
c.*299C>A (n.*299C>A)
c.1250C>A (p.Pro417His)
c.1071+194C>A (n.1071+194C>A)
c.1112C>A (p.Pro371His)
c.72+194C>A (n.72+194C>A)
c.1127C>A (p.Pro376His)
n.731C>A
n.3561C>A
c.1115C>A (p.Pro372His)
c.1124C>A (p.Pro375His)
n.441C>A
c.*994C>A (n.*994C>A)
c.471+194C>A (n.471+194C>A)
c.464C>A (p.Pro155His)
11g.1753610G>ACA379092592CTSDc.1132C>T (p.Pro378Ser)
c.1027C>T (p.Pro343Ser)
c.557C>T
c.*298C>T (n.*298C>T)
c.1249C>T (p.Pro417Ser)
c.1071+193C>T (n.1071+193C>T)
c.1111C>T (p.Pro371Ser)
c.72+193C>T (n.72+193C>T)
c.1126C>T (p.Pro376Ser)
n.730C>T
n.3560C>T
c.1114C>T (p.Pro372Ser)
c.1123C>T (p.Pro375Ser)
n.440C>T
c.*993C>T (n.*993C>T)
c.471+193C>T (n.471+193C>T)
c.463C>T (p.Pro155Ser)
11g.1753610G>CCA379092594CTSDc.1132C>G (p.Pro378Ala)
c.1027C>G (p.Pro343Ala)
c.557C>G
c.*298C>G (n.*298C>G)
c.1249C>G (p.Pro417Ala)
c.1071+193C>G (n.1071+193C>G)
c.1111C>G (p.Pro371Ala)
c.72+193C>G (n.72+193C>G)
c.1126C>G (p.Pro376Ala)
n.730C>G
n.3560C>G
c.1114C>G (p.Pro372Ala)
c.1123C>G (p.Pro375Ala)
n.440C>G
c.*993C>G (n.*993C>G)
c.471+193C>G (n.471+193C>G)
c.463C>G (p.Pro155Ala)
11g.1753610G>TCA379092595CTSDc.1132C>A (p.Pro378Thr)
c.1027C>A (p.Pro343Thr)
c.557C>A
c.*298C>A (n.*298C>A)
c.1249C>A (p.Pro417Thr)
c.1071+193C>A (n.1071+193C>A)
c.1111C>A (p.Pro371Thr)
c.72+193C>A (n.72+193C>A)
c.1126C>A (p.Pro376Thr)
n.730C>A
n.3560C>A
c.1114C>A (p.Pro372Thr)
c.1123C>A (p.Pro375Thr)
n.440C>A
c.*993C>A (n.*993C>A)
c.471+193C>A (n.471+193C>A)
c.463C>A (p.Pro155Thr)
 gnomAD v4
11g.1753611T>ACA472140548CTSDc.1131A>T (p.Pro377=)
c.1026A>T (p.Pro342=)
c.556A>T
c.*297A>T (n.*297A>T)
c.1248A>T (p.Pro416=)
c.1071+192A>T (n.1071+192A>T)
c.1110A>T (p.Pro370=)
c.72+192A>T (n.72+192A>T)
c.1125A>T (p.Pro375=)
n.729A>T
n.3559A>T
c.1113A>T (p.Pro371=)
c.1122A>T (p.Pro374=)
n.439A>T
c.*992A>T (n.*992A>T)
c.471+192A>T (n.471+192A>T)
c.462A>T (p.Pro154=)
 dbSNP
11g.1753611T>CCA472140551CTSDc.1131A>G (p.Pro377=)
c.1026A>G (p.Pro342=)
c.556A>G
c.*297A>G (n.*297A>G)
c.1248A>G (p.Pro416=)
c.1071+192A>G (n.1071+192A>G)
c.1110A>G (p.Pro370=)
c.72+192A>G (n.72+192A>G)
c.1125A>G (p.Pro375=)
n.729A>G
n.3559A>G
c.1113A>G (p.Pro371=)
c.1122A>G (p.Pro374=)
n.439A>G
c.*992A>G (n.*992A>G)
c.471+192A>G (n.471+192A>G)
c.462A>G (p.Pro154=)
11g.1753611T>GCA472140555CTSDc.1131A>C (p.Pro377=)
c.1026A>C (p.Pro342=)
c.556A>C
c.*297A>C (n.*297A>C)
c.1248A>C (p.Pro416=)
c.1071+192A>C (n.1071+192A>C)
c.1110A>C (p.Pro370=)
c.72+192A>C (n.72+192A>C)
c.1125A>C (p.Pro375=)
n.729A>C
n.3559A>C
c.1113A>C (p.Pro371=)
c.1122A>C (p.Pro374=)
n.439A>C
c.*992A>C (n.*992A>C)
c.471+192A>C (n.471+192A>C)
c.462A>C (p.Pro154=)
11g.1753611T=CA1947825138CTSDc.1131A= (p.Pro377=)
c.1026A= (p.Pro342=)
c.556A=
c.*297A= (n.*297A=)
c.1248A= (p.Pro416=)
c.1071+192A= (n.1071+192A=)
c.1110A= (p.Pro370=)
c.72+192A= (n.72+192A=)
c.1125A= (p.Pro375=)
n.729A=
n.3559A=
c.1113A= (p.Pro371=)
c.1122A= (p.Pro374=)
n.439A=
c.*992A= (n.*992A=)
c.471+192A= (n.471+192A=)
c.462A= (p.Pro154=)
11g.1753612G>ACA379092598CTSDc.1130C>T (p.Pro377Leu)
c.1025C>T (p.Pro342Leu)
c.555C>T
c.*296C>T (n.*296C>T)
c.1247C>T (p.Pro416Leu)
c.1071+191C>T (n.1071+191C>T)
c.1109C>T (p.Pro370Leu)
c.72+191C>T (n.72+191C>T)
c.1124C>T (p.Pro375Leu)
n.728C>T
n.3558C>T
c.1112C>T (p.Pro371Leu)
c.1121C>T (p.Pro374Leu)
n.438C>T
c.*991C>T (n.*991C>T)
c.471+191C>T (n.471+191C>T)
c.461C>T (p.Pro154Leu)
 gnomAD v4
11g.1753612G>CCA379092600CTSDc.1130C>G (p.Pro377Arg)
c.1025C>G (p.Pro342Arg)
c.555C>G
c.*296C>G (n.*296C>G)
c.1247C>G (p.Pro416Arg)
c.1071+191C>G (n.1071+191C>G)
c.1109C>G (p.Pro370Arg)
c.72+191C>G (n.72+191C>G)
c.1124C>G (p.Pro375Arg)
n.728C>G
n.3558C>G
c.1112C>G (p.Pro371Arg)
c.1121C>G (p.Pro374Arg)
n.438C>G
c.*991C>G (n.*991C>G)
c.471+191C>G (n.471+191C>G)
c.461C>G (p.Pro154Arg)
11g.1753612G>TCA379092601CTSDc.1130C>A (p.Pro377Gln)
c.1025C>A (p.Pro342Gln)
c.555C>A
c.*296C>A (n.*296C>A)
c.1247C>A (p.Pro416Gln)
c.1071+191C>A (n.1071+191C>A)
c.1109C>A (p.Pro370Gln)
c.72+191C>A (n.72+191C>A)
c.1124C>A (p.Pro375Gln)
n.728C>A
n.3558C>A
c.1112C>A (p.Pro371Gln)
c.1121C>A (p.Pro374Gln)
n.438C>A
c.*991C>A (n.*991C>A)
c.471+191C>A (n.471+191C>A)
c.461C>A (p.Pro154Gln)
11g.1753613G>ACA379092602CTSDc.1129C>T (p.Pro377Ser)
c.1024C>T (p.Pro342Ser)
c.554C>T
c.*295C>T (n.*295C>T)
c.1246C>T (p.Pro416Ser)
c.1071+190C>T (n.1071+190C>T)
c.1108C>T (p.Pro370Ser)
c.72+190C>T (n.72+190C>T)
c.1123C>T (p.Pro375Ser)
n.727C>T
n.3557C>T
c.1111C>T (p.Pro371Ser)
c.1120C>T (p.Pro374Ser)
n.437C>T
c.*990C>T (n.*990C>T)
c.471+190C>T (n.471+190C>T)
c.460C>T (p.Pro154Ser)
11g.1753613G>CCA379092604CTSDc.1129C>G (p.Pro377Ala)
c.1024C>G (p.Pro342Ala)
c.554C>G
c.*295C>G (n.*295C>G)
c.1246C>G (p.Pro416Ala)
c.1071+190C>G (n.1071+190C>G)
c.1108C>G (p.Pro370Ala)
c.72+190C>G (n.72+190C>G)
c.1123C>G (p.Pro375Ala)
n.727C>G
n.3557C>G
c.1111C>G (p.Pro371Ala)
c.1120C>G (p.Pro374Ala)
n.437C>G
c.*990C>G (n.*990C>G)
c.471+190C>G (n.471+190C>G)
c.460C>G (p.Pro154Ala)
11g.1753613G=CA1947825139CTSDc.1129C= (p.Pro377=)
c.1024C= (p.Pro342=)
c.554C=
c.*295C= (n.*295C=)
c.1246C= (p.Pro416=)
c.1071+190C= (n.1071+190C=)
c.1108C= (p.Pro370=)
c.72+190C= (n.72+190C=)
c.1123C= (p.Pro375=)
n.727C=
n.3557C=
c.1111C= (p.Pro371=)
c.1120C= (p.Pro374=)
n.437C=
c.*990C= (n.*990C=)
c.471+190C= (n.471+190C=)
c.460C= (p.Pro154=)
11g.1753613G>TCA379092606CTSDc.1129C>A (p.Pro377Thr)
c.1024C>A (p.Pro342Thr)
c.554C>A
c.*295C>A (n.*295C>A)
c.1246C>A (p.Pro416Thr)
c.1071+190C>A (n.1071+190C>A)
c.1108C>A (p.Pro370Thr)
c.72+190C>A (n.72+190C>A)
c.1123C>A (p.Pro375Thr)
n.727C>A
n.3557C>A
c.1111C>A (p.Pro371Thr)
c.1120C>A (p.Pro374Thr)
n.437C>A
c.*990C>A (n.*990C>A)
c.471+190C>A (n.471+190C>A)
c.460C>A (p.Pro154Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.1753614C>ACA472140568CTSDc.1128G>T (p.Pro376=)
c.1023G>T (p.Pro341=)
c.553G>T
c.*294G>T (n.*294G>T)
c.1245G>T (p.Pro415=)
c.1071+189G>T (n.1071+189G>T)
c.1107G>T (p.Pro369=)
c.72+189G>T (n.72+189G>T)
c.1122G>T (p.Pro374=)
n.726G>T
n.3556G>T
c.1110G>T (p.Pro370=)
c.1119G>T (p.Pro373=)
n.436G>T
c.*989G>T (n.*989G>T)
c.471+189G>T (n.471+189G>T)
c.459G>T (p.Pro153=)
11g.1753614C=CA1947825140CTSDc.1128G= (p.Pro376=)
c.1023G= (p.Pro341=)
c.553G=
c.*294G= (n.*294G=)
c.1245G= (p.Pro415=)
c.1071+189G= (n.1071+189G=)
c.1107G= (p.Pro369=)
c.72+189G= (n.72+189G=)
c.1122G= (p.Pro374=)
n.726G=
n.3556G=
c.1110G= (p.Pro370=)
c.1119G= (p.Pro373=)
n.436G=
c.*989G= (n.*989G=)
c.471+189G= (n.471+189G=)
c.459G= (p.Pro153=)
11g.1753614C>GCA216168707CTSDc.1128G>C (p.Pro376=)
c.1023G>C (p.Pro341=)
c.553G>C
c.*294G>C (n.*294G>C)
c.1245G>C (p.Pro415=)
c.1071+189G>C (n.1071+189G>C)
c.1107G>C (p.Pro369=)
c.72+189G>C (n.72+189G>C)
c.1122G>C (p.Pro374=)
n.726G>C
n.3556G>C
c.1110G>C (p.Pro370=)
c.1119G>C (p.Pro373=)
n.436G>C
c.*989G>C (n.*989G>C)
c.471+189G>C (n.471+189G>C)
c.459G>C (p.Pro153=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.1753614C>TCA216168716CTSDc.1128G>A (p.Pro376=)
c.1023G>A (p.Pro341=)
c.553G>A
c.*294G>A (n.*294G>A)
c.1245G>A (p.Pro415=)
c.1071+189G>A (n.1071+189G>A)
c.1107G>A (p.Pro369=)
c.72+189G>A (n.72+189G>A)
c.1122G>A (p.Pro374=)
n.726G>A
n.3556G>A
c.1110G>A (p.Pro370=)
c.1119G>A (p.Pro373=)
n.436G>A
c.*989G>A (n.*989G>A)
c.471+189G>A (n.471+189G>A)
c.459G>A (p.Pro153=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.1753615G>ACA5813890CTSDc.1127C>T (p.Pro376Leu)
c.1022C>T (p.Pro341Leu)
c.552C>T
c.*293C>T (n.*293C>T)
c.1244C>T (p.Pro415Leu)
c.1071+188C>T (n.1071+188C>T)
c.1106C>T (p.Pro369Leu)
c.72+188C>T (n.72+188C>T)
c.1121C>T (p.Pro374Leu)
n.725C>T
n.3555C>T
c.1109C>T (p.Pro370Leu)
c.1118C>T (p.Pro373Leu)
n.435C>T
c.*988C>T (n.*988C>T)
c.471+188C>T (n.471+188C>T)
c.458C>T (p.Pro153Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1753615G>CCA379092607CTSDc.1127C>G (p.Pro376Arg)
c.1022C>G (p.Pro341Arg)
c.552C>G
c.*293C>G (n.*293C>G)
c.1244C>G (p.Pro415Arg)
c.1071+188C>G (n.1071+188C>G)
c.1106C>G (p.Pro369Arg)
c.72+188C>G (n.72+188C>G)
c.1121C>G (p.Pro374Arg)
n.725C>G
n.3555C>G
c.1109C>G (p.Pro370Arg)
c.1118C>G (p.Pro373Arg)
n.435C>G
c.*988C>G (n.*988C>G)
c.471+188C>G (n.471+188C>G)
c.458C>G (p.Pro153Arg)
11g.1753615G=CA1947825141CTSDc.1127C= (p.Pro376=)
c.1022C= (p.Pro341=)
c.552C=
c.*293C= (n.*293C=)
c.1244C= (p.Pro415=)
c.1071+188C= (n.1071+188C=)
c.1106C= (p.Pro369=)
c.72+188C= (n.72+188C=)
c.1121C= (p.Pro374=)
n.725C=
n.3555C=
c.1109C= (p.Pro370=)
c.1118C= (p.Pro373=)
n.435C=
c.*988C= (n.*988C=)
c.471+188C= (n.471+188C=)
c.458C= (p.Pro153=)
11g.1753615G>TCA379092608CTSDc.1127C>A (p.Pro376Gln)
c.1022C>A (p.Pro341Gln)
c.552C>A
c.*293C>A (n.*293C>A)
c.1244C>A (p.Pro415Gln)
c.1071+188C>A (n.1071+188C>A)
c.1106C>A (p.Pro369Gln)
c.72+188C>A (n.72+188C>A)
c.1121C>A (p.Pro374Gln)
n.725C>A
n.3555C>A
c.1109C>A (p.Pro370Gln)
c.1118C>A (p.Pro373Gln)
n.435C>A
c.*988C>A (n.*988C>A)
c.471+188C>A (n.471+188C>A)
c.458C>A (p.Pro153Gln)
11g.1753616G>ACA379092613CTSDc.1126C>T (p.Pro376Ser)
c.1021C>T (p.Pro341Ser)
c.551C>T
c.*292C>T (n.*292C>T)
c.1243C>T (p.Pro415Ser)
c.1071+187C>T (n.1071+187C>T)
c.1105C>T (p.Pro369Ser)
c.72+187C>T (n.72+187C>T)
c.1120C>T (p.Pro374Ser)
n.724C>T
n.3554C>T
c.1108C>T (p.Pro370Ser)
c.1117C>T (p.Pro373Ser)
n.434C>T
c.*987C>T (n.*987C>T)
c.471+187C>T (n.471+187C>T)
c.457C>T (p.Pro153Ser)
11g.1753616G>CCA379092610CTSDc.1126C>G (p.Pro376Ala)
c.1021C>G (p.Pro341Ala)
c.551C>G
c.*292C>G (n.*292C>G)
c.1243C>G (p.Pro415Ala)
c.1071+187C>G (n.1071+187C>G)
c.1105C>G (p.Pro369Ala)
c.72+187C>G (n.72+187C>G)
c.1120C>G (p.Pro374Ala)
n.724C>G
n.3554C>G
c.1108C>G (p.Pro370Ala)
c.1117C>G (p.Pro373Ala)
n.434C>G
c.*987C>G (n.*987C>G)
c.471+187C>G (n.471+187C>G)
c.457C>G (p.Pro153Ala)
11g.1753616G>TCA379092611CTSDc.1126C>A (p.Pro376Thr)
c.1021C>A (p.Pro341Thr)
c.551C>A
c.*292C>A (n.*292C>A)
c.1243C>A (p.Pro415Thr)
c.1071+187C>A (n.1071+187C>A)
c.1105C>A (p.Pro369Thr)
c.72+187C>A (n.72+187C>A)
c.1120C>A (p.Pro374Thr)
n.724C>A
n.3554C>A
c.1108C>A (p.Pro370Thr)
c.1117C>A (p.Pro373Thr)
n.434C>A
c.*987C>A (n.*987C>A)
c.471+187C>A (n.471+187C>A)
c.457C>A (p.Pro153Thr)
11g.1753617G>ACA472140588CTSDc.1125C>T (p.Ile375=)
c.1020C>T (p.Ile340=)
c.550C>T
c.*291C>T (n.*291C>T)
c.1242C>T (p.Ile414=)
c.1071+186C>T (n.1071+186C>T)
c.1104C>T (p.Ile368=)
c.72+186C>T (n.72+186C>T)
c.1119C>T (p.Ile373=)
n.723C>T
n.3553C>T
c.1107C>T (p.Ile369=)
c.1116C>T (p.Ile372=)
n.433C>T
c.*986C>T (n.*986C>T)
c.471+186C>T (n.471+186C>T)
c.456C>T (p.Ile152=)
 ClinVar COSMIC
11g.1753617G>CCA379092615CTSDc.1125C>G (p.Ile375Met)
c.1020C>G (p.Ile340Met)
c.550C>G
c.*291C>G (n.*291C>G)
c.1242C>G (p.Ile414Met)
c.1071+186C>G (n.1071+186C>G)
c.1104C>G (p.Ile368Met)
c.72+186C>G (n.72+186C>G)
c.1119C>G (p.Ile373Met)
n.723C>G
n.3553C>G
c.1107C>G (p.Ile369Met)
c.1116C>G (p.Ile372Met)
n.433C>G
c.*986C>G (n.*986C>G)
c.471+186C>G (n.471+186C>G)
c.456C>G (p.Ile152Met)
 dbSNP gnomAD v2 gnomAD v4
11g.1753617G=CA1947825142CTSDc.1125C= (p.Ile375=)
c.1020C= (p.Ile340=)
c.550C=
c.*291C= (n.*291C=)
c.1242C= (p.Ile414=)
c.1071+186C= (n.1071+186C=)
c.1104C= (p.Ile368=)
c.72+186C= (n.72+186C=)
c.1119C= (p.Ile373=)
n.723C=
n.3553C=
c.1107C= (p.Ile369=)
c.1116C= (p.Ile372=)
n.433C=
c.*986C= (n.*986C=)
c.471+186C= (n.471+186C=)
c.456C= (p.Ile152=)
11g.1753617G>TCA472140587CTSDc.1125C>A (p.Ile375=)
c.1020C>A (p.Ile340=)
c.550C>A
c.*291C>A (n.*291C>A)
c.1242C>A (p.Ile414=)
c.1071+186C>A (n.1071+186C>A)
c.1104C>A (p.Ile368=)
c.72+186C>A (n.72+186C>A)
c.1119C>A (p.Ile373=)
n.723C>A
n.3553C>A
c.1107C>A (p.Ile369=)
c.1116C>A (p.Ile372=)
n.433C>A
c.*986C>A (n.*986C>A)
c.471+186C>A (n.471+186C>A)
c.456C>A (p.Ile152=)
 dbSNP
11g.1753618A>CCA379092617CTSDc.1124T>G (p.Ile375Ser)
c.1019T>G (p.Ile340Ser)
c.549T>G
c.*290T>G (n.*290T>G)
c.1241T>G (p.Ile414Ser)
c.1071+185T>G (n.1071+185T>G)
c.1103T>G (p.Ile368Ser)
c.72+185T>G (n.72+185T>G)
c.1118T>G (p.Ile373Ser)
n.722T>G
n.3552T>G
c.1106T>G (p.Ile369Ser)
c.1115T>G (p.Ile372Ser)
n.432T>G
c.*985T>G (n.*985T>G)
c.471+185T>G (n.471+185T>G)
c.455T>G (p.Ile152Ser)
11g.1753618A>GCA379092620CTSDc.1124T>C (p.Ile375Thr)
c.1019T>C (p.Ile340Thr)
c.549T>C
c.*290T>C (n.*290T>C)
c.1241T>C (p.Ile414Thr)
c.1071+185T>C (n.1071+185T>C)
c.1103T>C (p.Ile368Thr)
c.72+185T>C (n.72+185T>C)
c.1118T>C (p.Ile373Thr)
n.722T>C
n.3552T>C
c.1106T>C (p.Ile369Thr)
c.1115T>C (p.Ile372Thr)
n.432T>C
c.*985T>C (n.*985T>C)
c.471+185T>C (n.471+185T>C)
c.455T>C (p.Ile152Thr)
11g.1753618A>TCA379092622CTSDc.1124T>A (p.Ile375Asn)
c.1019T>A (p.Ile340Asn)
c.549T>A
c.*290T>A (n.*290T>A)
c.1241T>A (p.Ile414Asn)
c.1071+185T>A (n.1071+185T>A)
c.1103T>A (p.Ile368Asn)
c.72+185T>A (n.72+185T>A)
c.1118T>A (p.Ile373Asn)
n.722T>A
n.3552T>A
c.1106T>A (p.Ile369Asn)
c.1115T>A (p.Ile372Asn)
n.432T>A
c.*985T>A (n.*985T>A)
c.471+185T>A (n.471+185T>A)
c.455T>A (p.Ile152Asn)
11g.1753619T>ACA379092625CTSDc.1123A>T (p.Ile375Phe)
c.1018A>T (p.Ile340Phe)
c.548A>T
c.*289A>T (n.*289A>T)
c.1240A>T (p.Ile414Phe)
c.1071+184A>T (n.1071+184A>T)
c.1102A>T (p.Ile368Phe)
c.72+184A>T (n.72+184A>T)
c.1117A>T (p.Ile373Phe)
n.721A>T
n.3551A>T
c.1105A>T (p.Ile369Phe)
c.1114A>T (p.Ile372Phe)
n.431A>T
c.*984A>T (n.*984A>T)
c.471+184A>T (n.471+184A>T)
c.454A>T (p.Ile152Phe)
11g.1753619T>CCA379092627CTSDc.1123A>G (p.Ile375Val)
c.1018A>G (p.Ile340Val)
c.548A>G
c.*289A>G (n.*289A>G)
c.1240A>G (p.Ile414Val)
c.1071+184A>G (n.1071+184A>G)
c.1102A>G (p.Ile368Val)
c.72+184A>G (n.72+184A>G)
c.1117A>G (p.Ile373Val)
n.721A>G
n.3551A>G
c.1105A>G (p.Ile369Val)
c.1114A>G (p.Ile372Val)
n.431A>G
c.*984A>G (n.*984A>G)
c.471+184A>G (n.471+184A>G)
c.454A>G (p.Ile152Val)
 dbSNP gnomAD v2 gnomAD v4
11g.1753619T>GCA379092628CTSDc.1123A>C (p.Ile375Leu)
c.1018A>C (p.Ile340Leu)
c.548A>C
c.*289A>C (n.*289A>C)
c.1240A>C (p.Ile414Leu)
c.1071+184A>C (n.1071+184A>C)
c.1102A>C (p.Ile368Leu)
c.72+184A>C (n.72+184A>C)
c.1117A>C (p.Ile373Leu)
n.721A>C
n.3551A>C
c.1105A>C (p.Ile369Leu)
c.1114A>C (p.Ile372Leu)
n.431A>C
c.*984A>C (n.*984A>C)
c.471+184A>C (n.471+184A>C)
c.454A>C (p.Ile152Leu)
11g.1753619T=CA1947825143CTSDc.1123A= (p.Ile375=)
c.1018A= (p.Ile340=)
c.548A=
c.*289A= (n.*289A=)
c.1240A= (p.Ile414=)
c.1071+184A= (n.1071+184A=)
c.1102A= (p.Ile368=)
c.72+184A= (n.72+184A=)
c.1117A= (p.Ile373=)
n.721A=
n.3551A=
c.1105A= (p.Ile369=)
c.1114A= (p.Ile372=)
n.431A=
c.*984A= (n.*984A=)
c.471+184A= (n.471+184A=)
c.454A= (p.Ile152=)
11g.1753620G>ACA290532CTSDc.1122C>T (p.Asp374=)
c.1017C>T (p.Asp339=)
c.547C>T
c.*288C>T (n.*288C>T)
c.1239C>T (p.Asp413=)
c.1071+183C>T (n.1071+183C>T)
c.1101C>T (p.Asp367=)
c.72+183C>T (n.72+183C>T)
c.1116C>T (p.Asp372=)
n.720C>T
n.3550C>T
c.1104C>T (p.Asp368=)
c.1113C>T (p.Asp371=)
n.430C>T
c.*983C>T (n.*983C>T)
c.471+183C>T (n.471+183C>T)
c.453C>T (p.Asp151=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1753620G>CCA379092630CTSDc.1122C>G (p.Asp374Glu)
c.1017C>G (p.Asp339Glu)
c.547C>G
c.*288C>G (n.*288C>G)
c.1239C>G (p.Asp413Glu)
c.1071+183C>G (n.1071+183C>G)
c.1101C>G (p.Asp367Glu)
c.72+183C>G (n.72+183C>G)
c.1116C>G (p.Asp372Glu)
n.720C>G
n.3550C>G
c.1104C>G (p.Asp368Glu)
c.1113C>G (p.Asp371Glu)
n.430C>G
c.*983C>G (n.*983C>G)
c.471+183C>G (n.471+183C>G)
c.453C>G (p.Asp151Glu)
11g.1753620G=CA1947825144CTSDc.1122C= (p.Asp374=)
c.1017C= (p.Asp339=)
c.547C=
c.*288C= (n.*288C=)
c.1239C= (p.Asp413=)
c.1071+183C= (n.1071+183C=)
c.1101C= (p.Asp367=)
c.72+183C= (n.72+183C=)
c.1116C= (p.Asp372=)
n.720C=
n.3550C=
c.1104C= (p.Asp368=)
c.1113C= (p.Asp371=)
n.430C=
c.*983C= (n.*983C=)
c.471+183C= (n.471+183C=)
c.453C= (p.Asp151=)
11g.1753620G>TCA379092631CTSDc.1122C>A (p.Asp374Glu)
c.1017C>A (p.Asp339Glu)
c.547C>A
c.*288C>A (n.*288C>A)
c.1239C>A (p.Asp413Glu)
c.1071+183C>A (n.1071+183C>A)
c.1101C>A (p.Asp367Glu)
c.72+183C>A (n.72+183C>A)
c.1116C>A (p.Asp372Glu)
n.720C>A
n.3550C>A
c.1104C>A (p.Asp368Glu)
c.1113C>A (p.Asp371Glu)
n.430C>A
c.*983C>A (n.*983C>A)
c.471+183C>A (n.471+183C>A)
c.453C>A (p.Asp151Glu)
11g.1753621T>ACA379092633CTSDc.1121A>T (p.Asp374Val)
c.1016A>T (p.Asp339Val)
c.546A>T
c.*287A>T (n.*287A>T)
c.1238A>T (p.Asp413Val)
c.1071+182A>T (n.1071+182A>T)
c.1100A>T (p.Asp367Val)
c.72+182A>T (n.72+182A>T)
c.1115A>T (p.Asp372Val)
n.719A>T
n.3549A>T
c.1103A>T (p.Asp368Val)
c.1112A>T (p.Asp371Val)
n.429A>T
c.*982A>T (n.*982A>T)
c.471+182A>T (n.471+182A>T)
c.452A>T (p.Asp151Val)
11g.1753621T>CCA379092635CTSDc.1121A>G (p.Asp374Gly)
c.1016A>G (p.Asp339Gly)
c.546A>G
c.*287A>G (n.*287A>G)
c.1238A>G (p.Asp413Gly)
c.1071+182A>G (n.1071+182A>G)
c.1100A>G (p.Asp367Gly)
c.72+182A>G (n.72+182A>G)
c.1115A>G (p.Asp372Gly)
n.719A>G
n.3549A>G
c.1103A>G (p.Asp368Gly)
c.1112A>G (p.Asp371Gly)
n.429A>G
c.*982A>G (n.*982A>G)
c.471+182A>G (n.471+182A>G)
c.452A>G (p.Asp151Gly)
11g.1753621T>GCA379092637CTSDc.1121A>C (p.Asp374Ala)
c.1016A>C (p.Asp339Ala)
c.546A>C
c.*287A>C (n.*287A>C)
c.1238A>C (p.Asp413Ala)
c.1071+182A>C (n.1071+182A>C)
c.1100A>C (p.Asp367Ala)
c.72+182A>C (n.72+182A>C)
c.1115A>C (p.Asp372Ala)
n.719A>C
n.3549A>C
c.1103A>C (p.Asp368Ala)
c.1112A>C (p.Asp371Ala)
n.429A>C
c.*982A>C (n.*982A>C)
c.471+182A>C (n.471+182A>C)
c.452A>C (p.Asp151Ala)
11g.1753621_1753622delinsTCCA1947825145CTSDc.1120_1121delinsGA (p.Asp374=)
c.1015_1016delinsGA (p.Asp339=)
c.545_546delinsGA
c.*286_*287delinsGA (n.*286_*287delinsGA)
c.1237_1238delinsGA (p.Asp413=)
c.1071+181_1071+182delinsGA (n.1071+181_1071+182delinsGA)
c.1099_1100delinsGA (p.Asp367=)
c.72+181_72+182delinsGA (n.72+181_72+182delinsGA)
c.1114_1115delinsGA (p.Asp372=)
n.718_719delinsGA
n.3548_3549delinsGA
c.1102_1103delinsGA (p.Asp368=)
c.1111_1112delinsGA (p.Asp371=)
n.428_429delinsGA
c.*981_*982delinsGA (n.*981_*982delinsGA)
c.471+181_471+182delinsGA (n.471+181_471+182delinsGA)
c.451_452delinsGA (p.Asp151=)
11g.1753622C>ACA379092641CTSDc.1120G>T (p.Asp374Tyr)
c.1015G>T (p.Asp339Tyr)
c.545G>T
c.*286G>T (n.*286G>T)
c.1237G>T (p.Asp413Tyr)
c.1071+181G>T (n.1071+181G>T)
c.1099G>T (p.Asp367Tyr)
c.72+181G>T (n.72+181G>T)
c.1114G>T (p.Asp372Tyr)
n.718G>T
n.3548G>T
c.1102G>T (p.Asp368Tyr)
c.1111G>T (p.Asp371Tyr)
n.428G>T
c.*981G>T (n.*981G>T)
c.471+181G>T (n.471+181G>T)
c.451G>T (p.Asp151Tyr)
11g.1753622C>GCA379092643CTSDc.1120G>C (p.Asp374His)
c.1015G>C (p.Asp339His)
c.545G>C
c.*286G>C (n.*286G>C)
c.1237G>C (p.Asp413His)
c.1071+181G>C (n.1071+181G>C)
c.1099G>C (p.Asp367His)
c.72+181G>C (n.72+181G>C)
c.1114G>C (p.Asp372His)
n.718G>C
n.3548G>C
c.1102G>C (p.Asp368His)
c.1111G>C (p.Asp371His)
n.428G>C
c.*981G>C (n.*981G>C)
c.471+181G>C (n.471+181G>C)
c.451G>C (p.Asp151His)
11g.1753622C>TCA379092639CTSDc.1120G>A (p.Asp374Asn)
c.1015G>A (p.Asp339Asn)
c.545G>A
c.*286G>A (n.*286G>A)
c.1237G>A (p.Asp413Asn)
c.1071+181G>A (n.1071+181G>A)
c.1099G>A (p.Asp367Asn)
c.72+181G>A (n.72+181G>A)
c.1114G>A (p.Asp372Asn)
n.718G>A
n.3548G>A
c.1102G>A (p.Asp368Asn)
c.1111G>A (p.Asp371Asn)
n.428G>A
c.*981G>A (n.*981G>A)
c.471+181G>A (n.471+181G>A)
c.451G>A (p.Asp151Asn)
11g.1753623delCA1947825146CTSDc.1120del (p.Asp374ThrfsTer?)
c.1015del (p.Asp339ThrfsTer?)
c.545del
c.*286del (n.*286del)
c.1237del (p.Asp413ThrfsTer?)
c.1071+181del (n.1071+181del)
c.1099del (p.Asp367ThrfsTer?)
c.72+181del (n.72+181del)
c.1114del (p.Asp372ThrfsTer?)
n.718del
n.3548del
c.1102del (p.Asp368ThrfsTer?)
c.1111del (p.Asp371ThrfsTer?)
n.428del
c.*981del (n.*981del)
c.471+181del (n.471+181del)
c.451del (p.Asp151ThrfsTer?)
 dbSNP
11g.1753623C>ACA379092645CTSDc.1119G>T (p.Met373Ile)
c.1014G>T (p.Met338Ile)
c.544G>T
c.*285G>T (n.*285G>T)
c.1236G>T (p.Met412Ile)
c.1071+180G>T (n.1071+180G>T)
c.1098G>T (p.Met366Ile)
c.72+180G>T (n.72+180G>T)
c.1113G>T (p.Met371Ile)
n.717G>T
n.3547G>T
c.1101G>T (p.Met367Ile)
c.1110G>T (p.Met370Ile)
n.427G>T
c.*980G>T (n.*980G>T)
c.471+180G>T (n.471+180G>T)
c.450G>T (p.Met150Ile)
 ClinVar
11g.1753623C=CA1947825147CTSDc.1119G= (p.Met373=)
c.1014G= (p.Met338=)
c.544G=
c.*285G= (n.*285G=)
c.1236G= (p.Met412=)
c.1071+180G= (n.1071+180G=)
c.1098G= (p.Met366=)
c.72+180G= (n.72+180G=)
c.1113G= (p.Met371=)
n.717G=
n.3547G=
c.1101G= (p.Met367=)
c.1110G= (p.Met370=)
n.427G=
c.*980G= (n.*980G=)
c.471+180G= (n.471+180G=)
c.450G= (p.Met150=)
11g.1753623C>GCA314328CTSDc.1119G>C (p.Met373Ile)
c.1014G>C (p.Met338Ile)
c.544G>C
c.*285G>C (n.*285G>C)
c.1236G>C (p.Met412Ile)
c.1071+180G>C (n.1071+180G>C)
c.1098G>C (p.Met366Ile)
c.72+180G>C (n.72+180G>C)
c.1113G>C (p.Met371Ile)
n.717G>C
n.3547G>C
c.1101G>C (p.Met367Ile)
c.1110G>C (p.Met370Ile)
n.427G>C
c.*980G>C (n.*980G>C)
c.471+180G>C (n.471+180G>C)
c.450G>C (p.Met150Ile)
 ClinVar dbSNP gnomAD v4
11g.1753623C>TCA379092647CTSDc.1119G>A (p.Met373Ile)
c.1014G>A (p.Met338Ile)
c.544G>A
c.*285G>A (n.*285G>A)
c.1236G>A (p.Met412Ile)
c.1071+180G>A (n.1071+180G>A)
c.1098G>A (p.Met366Ile)
c.72+180G>A (n.72+180G>A)
c.1113G>A (p.Met371Ile)
n.717G>A
n.3547G>A
c.1101G>A (p.Met367Ile)
c.1110G>A (p.Met370Ile)
n.427G>A
c.*980G>A (n.*980G>A)
c.471+180G>A (n.471+180G>A)
c.450G>A (p.Met150Ile)
11g.1753624A=CA1947825148CTSDc.1118T= (p.Met373=)
c.1013T= (p.Met338=)
c.543T=
c.*284T= (n.*284T=)
c.1235T= (p.Met412=)
c.1071+179T= (n.1071+179T=)
c.1097T= (p.Met366=)
c.72+179T= (n.72+179T=)
c.1112T= (p.Met371=)
n.716T=
n.3546T=
c.1100T= (p.Met367=)
c.1109T= (p.Met370=)
n.426T=
c.*979T= (n.*979T=)
c.471+179T= (n.471+179T=)
c.449T= (p.Met150=)
11g.1753624A>CCA379092649CTSDc.1118T>G (p.Met373Arg)
c.1013T>G (p.Met338Arg)
c.543T>G
c.*284T>G (n.*284T>G)
c.1235T>G (p.Met412Arg)
c.1071+179T>G (n.1071+179T>G)
c.1097T>G (p.Met366Arg)
c.72+179T>G (n.72+179T>G)
c.1112T>G (p.Met371Arg)
n.716T>G
n.3546T>G
c.1100T>G (p.Met367Arg)
c.1109T>G (p.Met370Arg)
n.426T>G
c.*979T>G (n.*979T>G)
c.471+179T>G (n.471+179T>G)
c.449T>G (p.Met150Arg)
11g.1753624A>GCA379092650CTSDc.1118T>C (p.Met373Thr)
c.1013T>C (p.Met338Thr)
c.543T>C
c.*284T>C (n.*284T>C)
c.1235T>C (p.Met412Thr)
c.1071+179T>C (n.1071+179T>C)
c.1097T>C (p.Met366Thr)
c.72+179T>C (n.72+179T>C)
c.1112T>C (p.Met371Thr)
n.716T>C
n.3546T>C
c.1100T>C (p.Met367Thr)
c.1109T>C (p.Met370Thr)
n.426T>C
c.*979T>C (n.*979T>C)
c.471+179T>C (n.471+179T>C)
c.449T>C (p.Met150Thr)
 dbSNP gnomAD v2
11g.1753624A>TCA379092652CTSDc.1118T>A (p.Met373Lys)
c.1013T>A (p.Met338Lys)
c.543T>A
c.*284T>A (n.*284T>A)
c.1235T>A (p.Met412Lys)
c.1071+179T>A (n.1071+179T>A)
c.1097T>A (p.Met366Lys)
c.72+179T>A (n.72+179T>A)
c.1112T>A (p.Met371Lys)
n.716T>A
n.3546T>A
c.1100T>A (p.Met367Lys)
c.1109T>A (p.Met370Lys)
n.426T>A
c.*979T>A (n.*979T>A)
c.471+179T>A (n.471+179T>A)
c.449T>A (p.Met150Lys)
11g.1753625T>ACA379092653CTSDc.1117A>T (p.Met373Leu)
c.1012A>T (p.Met338Leu)
c.542A>T
c.*283A>T (n.*283A>T)
c.1234A>T (p.Met412Leu)
c.1071+178A>T (n.1071+178A>T)
c.1096A>T (p.Met366Leu)
c.72+178A>T (n.72+178A>T)
c.1111A>T (p.Met371Leu)
n.715A>T
n.3545A>T
c.1099A>T (p.Met367Leu)
c.1108A>T (p.Met370Leu)
n.425A>T
c.*978A>T (n.*978A>T)
c.471+178A>T (n.471+178A>T)
c.448A>T (p.Met150Leu)
11g.1753625T>CCA379092655CTSDc.1117A>G (p.Met373Val)
c.1012A>G (p.Met338Val)
c.542A>G
c.*283A>G (n.*283A>G)
c.1234A>G (p.Met412Val)
c.1071+178A>G (n.1071+178A>G)
c.1096A>G (p.Met366Val)
c.72+178A>G (n.72+178A>G)
c.1111A>G (p.Met371Val)
n.715A>G
n.3545A>G
c.1099A>G (p.Met367Val)
c.1108A>G (p.Met370Val)
n.425A>G
c.*978A>G (n.*978A>G)
c.471+178A>G (n.471+178A>G)
c.448A>G (p.Met150Val)
 gnomAD v4
11g.1753625T>GCA379092657CTSDc.1117A>C (p.Met373Leu)
c.1012A>C (p.Met338Leu)
c.542A>C
c.*283A>C (n.*283A>C)
c.1234A>C (p.Met412Leu)
c.1071+178A>C (n.1071+178A>C)
c.1096A>C (p.Met366Leu)
c.72+178A>C (n.72+178A>C)
c.1111A>C (p.Met371Leu)
n.715A>C
n.3545A>C
c.1099A>C (p.Met367Leu)
c.1108A>C (p.Met370Leu)
n.425A>C
c.*978A>C (n.*978A>C)
c.471+178A>C (n.471+178A>C)
c.448A>C (p.Met150Leu)
11g.1753626G>ACA5813891CTSDc.1116C>T (p.Gly372=)
c.1011C>T (p.Gly337=)
c.541C>T
c.*282C>T (n.*282C>T)
c.1233C>T (p.Gly411=)
c.1071+177C>T (n.1071+177C>T)
c.1095C>T (p.Gly365=)
c.72+177C>T (n.72+177C>T)
c.1110C>T (p.Gly370=)
n.714C>T
n.3544C>T
c.1098C>T (p.Gly366=)
c.1107C>T (p.Gly369=)
n.424C>T
c.*977C>T (n.*977C>T)
c.471+177C>T (n.471+177C>T)
c.447C>T (p.Gly149=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1753626G>CCA472140654CTSDc.1116C>G (p.Gly372=)
c.1011C>G (p.Gly337=)
c.541C>G
c.*282C>G (n.*282C>G)
c.1233C>G (p.Gly411=)
c.1071+177C>G (n.1071+177C>G)
c.1095C>G (p.Gly365=)
c.72+177C>G (n.72+177C>G)
c.1110C>G (p.Gly370=)
n.714C>G
n.3544C>G
c.1098C>G (p.Gly366=)
c.1107C>G (p.Gly369=)
n.424C>G
c.*977C>G (n.*977C>G)
c.471+177C>G (n.471+177C>G)
c.447C>G (p.Gly149=)
11g.1753626G=CA1947825149CTSDc.1116C= (p.Gly372=)
c.1011C= (p.Gly337=)
c.541C=
c.*282C= (n.*282C=)
c.1233C= (p.Gly411=)
c.1071+177C= (n.1071+177C=)
c.1095C= (p.Gly365=)
c.72+177C= (n.72+177C=)
c.1110C= (p.Gly370=)
n.714C=
n.3544C=
c.1098C= (p.Gly366=)
c.1107C= (p.Gly369=)
n.424C=
c.*977C= (n.*977C=)
c.471+177C= (n.471+177C=)
c.447C= (p.Gly149=)
11g.1753626G>TCA472140666CTSDc.1116C>A (p.Gly372=)
c.1011C>A (p.Gly337=)
c.541C>A
c.*282C>A (n.*282C>A)
c.1233C>A (p.Gly411=)
c.1071+177C>A (n.1071+177C>A)
c.1095C>A (p.Gly365=)
c.72+177C>A (n.72+177C>A)
c.1110C>A (p.Gly370=)
n.714C>A
n.3544C>A
c.1098C>A (p.Gly366=)
c.1107C>A (p.Gly369=)
n.424C>A
c.*977C>A (n.*977C>A)
c.471+177C>A (n.471+177C>A)
c.447C>A (p.Gly149=)
 dbSNP
11g.1753627C>ACA379092659CTSDc.1115G>T (p.Gly372Val)
c.1010G>T (p.Gly337Val)
c.540G>T
c.*281G>T (n.*281G>T)
c.1232G>T (p.Gly411Val)
c.1071+176G>T (n.1071+176G>T)
c.1094G>T (p.Gly365Val)
c.72+176G>T (n.72+176G>T)
c.1109G>T (p.Gly370Val)
n.713G>T
n.3543G>T
c.1097G>T (p.Gly366Val)
c.1106G>T (p.Gly369Val)
n.423G>T
c.*976G>T (n.*976G>T)
c.471+176G>T (n.471+176G>T)
c.446G>T (p.Gly149Val)
11g.1753627C>GCA379092660CTSDc.1115G>C (p.Gly372Ala)
c.1010G>C (p.Gly337Ala)
c.540G>C
c.*281G>C (n.*281G>C)
c.1232G>C (p.Gly411Ala)
c.1071+176G>C (n.1071+176G>C)
c.1094G>C (p.Gly365Ala)
c.72+176G>C (n.72+176G>C)
c.1109G>C (p.Gly370Ala)
n.713G>C
n.3543G>C
c.1097G>C (p.Gly366Ala)
c.1106G>C (p.Gly369Ala)
n.423G>C
c.*976G>C (n.*976G>C)
c.471+176G>C (n.471+176G>C)
c.446G>C (p.Gly149Ala)
11g.1753627C>TCA379092662CTSDc.1115G>A (p.Gly372Asp)
c.1010G>A (p.Gly337Asp)
c.540G>A
c.*281G>A (n.*281G>A)
c.1232G>A (p.Gly411Asp)
c.1071+176G>A (n.1071+176G>A)
c.1094G>A (p.Gly365Asp)
c.72+176G>A (n.72+176G>A)
c.1109G>A (p.Gly370Asp)
n.713G>A
n.3543G>A
c.1097G>A (p.Gly366Asp)
c.1106G>A (p.Gly369Asp)
n.423G>A
c.*976G>A (n.*976G>A)
c.471+176G>A (n.471+176G>A)
c.446G>A (p.Gly149Asp)
11g.1753628C>ACA379092665CTSDc.1114G>T (p.Gly372Cys)
c.1009G>T (p.Gly337Cys)
c.539G>T
c.*280G>T (n.*280G>T)
c.1231G>T (p.Gly411Cys)
c.1071+175G>T (n.1071+175G>T)
c.1093G>T (p.Gly365Cys)
c.72+175G>T (n.72+175G>T)
c.1108G>T (p.Gly370Cys)
n.712G>T
n.3542G>T
c.1096G>T (p.Gly366Cys)
c.1105G>T (p.Gly369Cys)
n.422G>T
c.*975G>T (n.*975G>T)
c.471+175G>T (n.471+175G>T)
c.445G>T (p.Gly149Cys)
11g.1753628C>GCA379092664CTSDc.1114G>C (p.Gly372Arg)
c.1009G>C (p.Gly337Arg)
c.539G>C
c.*280G>C (n.*280G>C)
c.1231G>C (p.Gly411Arg)
c.1071+175G>C (n.1071+175G>C)
c.1093G>C (p.Gly365Arg)
c.72+175G>C (n.72+175G>C)
c.1108G>C (p.Gly370Arg)
n.712G>C
n.3542G>C
c.1096G>C (p.Gly366Arg)
c.1105G>C (p.Gly369Arg)
n.422G>C
c.*975G>C (n.*975G>C)
c.471+175G>C (n.471+175G>C)
c.445G>C (p.Gly149Arg)
11g.1753628C>TCA379092663CTSDc.1114G>A (p.Gly372Ser)
c.1009G>A (p.Gly337Ser)
c.539G>A
c.*280G>A (n.*280G>A)
c.1231G>A (p.Gly411Ser)
c.1071+175G>A (n.1071+175G>A)
c.1093G>A (p.Gly365Ser)
c.72+175G>A (n.72+175G>A)
c.1108G>A (p.Gly370Ser)
n.712G>A
n.3542G>A
c.1096G>A (p.Gly366Ser)
c.1105G>A (p.Gly369Ser)
n.422G>A
c.*975G>A (n.*975G>A)
c.471+175G>A (n.471+175G>A)
c.445G>A (p.Gly149Ser)
11g.1753629C>ACA379092666CTSDc.1113G>T (p.Met371Ile)
c.1008G>T (p.Met336Ile)
c.538G>T
c.*279G>T (n.*279G>T)
c.1230G>T (p.Met410Ile)
c.1071+174G>T (n.1071+174G>T)
c.1092G>T (p.Met364Ile)
c.72+174G>T (n.72+174G>T)
c.1107G>T (p.Met369Ile)
n.711G>T
n.3541G>T
c.1095G>T (p.Met365Ile)
c.1104G>T (p.Met368Ile)
n.421G>T
c.*974G>T (n.*974G>T)
c.471+174G>T (n.471+174G>T)
c.444G>T (p.Met148Ile)
11g.1753629C=CA1947825150CTSDc.1113G= (p.Met371=)
c.1008G= (p.Met336=)
c.538G=
c.*279G= (n.*279G=)
c.1230G= (p.Met410=)
c.1071+174G= (n.1071+174G=)
c.1092G= (p.Met364=)
c.72+174G= (n.72+174G=)
c.1107G= (p.Met369=)
n.711G=
n.3541G=
c.1095G= (p.Met365=)
c.1104G= (p.Met368=)
n.421G=
c.*974G= (n.*974G=)
c.471+174G= (n.471+174G=)
c.444G= (p.Met148=)
11g.1753629C>GCA379092667CTSDc.1113G>C (p.Met371Ile)
c.1008G>C (p.Met336Ile)
c.538G>C
c.*279G>C (n.*279G>C)
c.1230G>C (p.Met410Ile)
c.1071+174G>C (n.1071+174G>C)
c.1092G>C (p.Met364Ile)
c.72+174G>C (n.72+174G>C)
c.1107G>C (p.Met369Ile)
n.711G>C
n.3541G>C
c.1095G>C (p.Met365Ile)
c.1104G>C (p.Met368Ile)
n.421G>C
c.*974G>C (n.*974G>C)
c.471+174G>C (n.471+174G>C)
c.444G>C (p.Met148Ile)
11g.1753629C>TCA379092668CTSDc.1113G>A (p.Met371Ile)
c.1008G>A (p.Met336Ile)
c.538G>A
c.*279G>A (n.*279G>A)
c.1230G>A (p.Met410Ile)
c.1071+174G>A (n.1071+174G>A)
c.1092G>A (p.Met364Ile)
c.72+174G>A (n.72+174G>A)
c.1107G>A (p.Met369Ile)
n.711G>A
n.3541G>A
c.1095G>A (p.Met365Ile)
c.1104G>A (p.Met368Ile)
n.421G>A
c.*974G>A (n.*974G>A)
c.471+174G>A (n.471+174G>A)
c.444G>A (p.Met148Ile)
11g.1753629_1753630insGCA597430544CTSDc.1112_1113insC (p.Met371IlefsTer28)
c.1007_1008insC (p.Met336IlefsTer28)
c.537_538insC
c.*278_*279insC (n.*278_*279insC)
c.1229_1230insC (p.Met410IlefsTer28)
c.1071+173_1071+174insC (n.1071+173_1071+174insC)
c.1091_1092insC (p.Met364IlefsTer28)
c.72+173_72+174insC (n.72+173_72+174insC)
c.1106_1107insC (p.Met369IlefsTer28)
n.710_711insC
n.3540_3541insC
c.1094_1095insC (p.Met365IlefsTer28)
c.1103_1104insC (p.Met368IlefsTer28)
n.420_421insC
c.*973_*974insC (n.*973_*974insC)
c.471+173_471+174insC (n.471+173_471+174insC)
c.443_444insC (p.Met148IlefsTer28)
 dbSNP gnomAD v2
11g.1753630A=CA1947825151CTSDc.1112T= (p.Met371=)
c.1007T= (p.Met336=)
c.537T=
c.*278T= (n.*278T=)
c.1229T= (p.Met410=)
c.1071+173T= (n.1071+173T=)
c.1091T= (p.Met364=)
c.72+173T= (n.72+173T=)
c.1106T= (p.Met369=)
n.710T=
n.3540T=
c.1094T= (p.Met365=)
c.1103T= (p.Met368=)
n.420T=
c.*973T= (n.*973T=)
c.471+173T= (n.471+173T=)
c.443T= (p.Met148=)
11g.1753630A>CCA379092669CTSDc.1112T>G (p.Met371Arg)
c.1007T>G (p.Met336Arg)
c.537T>G
c.*278T>G (n.*278T>G)
c.1229T>G (p.Met410Arg)
c.1071+173T>G (n.1071+173T>G)
c.1091T>G (p.Met364Arg)
c.72+173T>G (n.72+173T>G)
c.1106T>G (p.Met369Arg)
n.710T>G
n.3540T>G
c.1094T>G (p.Met365Arg)
c.1103T>G (p.Met368Arg)
n.420T>G
c.*973T>G (n.*973T>G)
c.471+173T>G (n.471+173T>G)
c.443T>G (p.Met148Arg)
 COSMIC
11g.1753630A>GCA5813892CTSDc.1112T>C (p.Met371Thr)
c.1007T>C (p.Met336Thr)
c.537T>C
c.*278T>C (n.*278T>C)
c.1229T>C (p.Met410Thr)
c.1071+173T>C (n.1071+173T>C)
c.1091T>C (p.Met364Thr)
c.72+173T>C (n.72+173T>C)
c.1106T>C (p.Met369Thr)
n.710T>C
n.3540T>C
c.1094T>C (p.Met365Thr)
c.1103T>C (p.Met368Thr)
n.420T>C
c.*973T>C (n.*973T>C)
c.471+173T>C (n.471+173T>C)
c.443T>C (p.Met148Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.1753630A>TCA379092670CTSDc.1112T>A (p.Met371Lys)
c.1007T>A (p.Met336Lys)
c.537T>A
c.*278T>A (n.*278T>A)
c.1229T>A (p.Met410Lys)
c.1071+173T>A (n.1071+173T>A)
c.1091T>A (p.Met364Lys)
c.72+173T>A (n.72+173T>A)
c.1106T>A (p.Met369Lys)
n.710T>A
n.3540T>A
c.1094T>A (p.Met365Lys)
c.1103T>A (p.Met368Lys)
n.420T>A
c.*973T>A (n.*973T>A)
c.471+173T>A (n.471+173T>A)
c.443T>A (p.Met148Lys)
11g.1753630_1753631insCTGGTAGGCCTGCTCTGAGGGTCCCCGAGAGCAGAAATAGCCTCTGTTCGAGCA597430545CTSDc.1111_1112insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (p.Met371ThrfsTer45)
c.1006_1007insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (p.Met336ThrfsTer45)
c.536_537insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG
c.*277_*278insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (n.*277_*278insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG)
c.1228_1229insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (p.Met410ThrfsTer45)
c.1071+172_1071+173insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (n.1071+172_1071+173insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG)
c.1090_1091insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (p.Met364ThrfsTer45)
c.72+172_72+173insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (n.72+172_72+173insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG)
c.1105_1106insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (p.Met369ThrfsTer45)
n.709_710insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG
n.3539_3540insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG
c.1093_1094insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (p.Met365ThrfsTer45)
c.1102_1103insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (p.Met368ThrfsTer45)
n.419_420insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG
c.*972_*973insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (n.*972_*973insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG)
c.471+172_471+173insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (n.471+172_471+173insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG)
c.442_443insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (p.Met148ThrfsTer45)
 gnomAD v2
11g.1753631T>ACA379092671CTSDc.1111A>T (p.Met371Leu)
c.1006A>T (p.Met336Leu)
c.536A>T
c.*277A>T (n.*277A>T)
c.1228A>T (p.Met410Leu)
c.1071+172A>T (n.1071+172A>T)
c.1090A>T (p.Met364Leu)
c.72+172A>T (n.72+172A>T)
c.1105A>T (p.Met369Leu)
n.709A>T
n.3539A>T
c.1093A>T (p.Met365Leu)
c.1102A>T (p.Met368Leu)
n.419A>T
c.*972A>T (n.*972A>T)
c.471+172A>T (n.471+172A>T)
c.442A>T (p.Met148Leu)
11g.1753631T>CCA379092673CTSDc.1111A>G (p.Met371Val)
c.1006A>G (p.Met336Val)
c.536A>G
c.*277A>G (n.*277A>G)
c.1228A>G (p.Met410Val)
c.1071+172A>G (n.1071+172A>G)
c.1090A>G (p.Met364Val)
c.72+172A>G (n.72+172A>G)
c.1105A>G (p.Met369Val)
n.709A>G
n.3539A>G
c.1093A>G (p.Met365Val)
c.1102A>G (p.Met368Val)
n.419A>G
c.*972A>G (n.*972A>G)
c.471+172A>G (n.471+172A>G)
c.442A>G (p.Met148Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.1753631T>GCA379092674CTSDc.1111A>C (p.Met371Leu)
c.1006A>C (p.Met336Leu)
c.536A>C
c.*277A>C (n.*277A>C)
c.1228A>C (p.Met410Leu)
c.1071+172A>C (n.1071+172A>C)
c.1090A>C (p.Met364Leu)
c.72+172A>C (n.72+172A>C)
c.1105A>C (p.Met369Leu)
n.709A>C
n.3539A>C
c.1093A>C (p.Met365Leu)
c.1102A>C (p.Met368Leu)
n.419A>C
c.*972A>C (n.*972A>C)
c.471+172A>C (n.471+172A>C)
c.442A>C (p.Met148Leu)
11g.1753631T=CA1947825152CTSDc.1111A= (p.Met371=)
c.1006A= (p.Met336=)
c.536A=
c.*277A= (n.*277A=)
c.1228A= (p.Met410=)
c.1071+172A= (n.1071+172A=)
c.1090A= (p.Met364=)
c.72+172A= (n.72+172A=)
c.1105A= (p.Met369=)
n.709A=
n.3539A=
c.1093A= (p.Met365=)
c.1102A= (p.Met368=)
n.419A=
c.*972A= (n.*972A=)
c.471+172A= (n.471+172A=)
c.442A= (p.Met148=)
11g.1753632G>ACA472140706CTSDc.1110C>T (p.Phe370=)
c.1005C>T (p.Phe335=)
c.535C>T
c.*276C>T (n.*276C>T)
c.1227C>T (p.Phe409=)
c.1071+171C>T (n.1071+171C>T)
c.1089C>T (p.Phe363=)
c.72+171C>T (n.72+171C>T)
c.1104C>T (p.Phe368=)
n.708C>T
n.3538C>T
c.1092C>T (p.Phe364=)
c.1101C>T (p.Phe367=)
n.418C>T
c.*971C>T (n.*971C>T)
c.471+171C>T (n.471+171C>T)
c.441C>T (p.Phe147=)
11g.1753632G>CCA379092675CTSDc.1110C>G (p.Phe370Leu)
c.1005C>G (p.Phe335Leu)
c.535C>G
c.*276C>G (n.*276C>G)
c.1227C>G (p.Phe409Leu)
c.1071+171C>G (n.1071+171C>G)
c.1089C>G (p.Phe363Leu)
c.72+171C>G (n.72+171C>G)
c.1104C>G (p.Phe368Leu)
n.708C>G
n.3538C>G
c.1092C>G (p.Phe364Leu)
c.1101C>G (p.Phe367Leu)
n.418C>G
c.*971C>G (n.*971C>G)
c.471+171C>G (n.471+171C>G)
c.441C>G (p.Phe147Leu)
11g.1753632G>TCA379092676CTSDc.1110C>A (p.Phe370Leu)
c.1005C>A (p.Phe335Leu)
c.535C>A
c.*276C>A (n.*276C>A)
c.1227C>A (p.Phe409Leu)
c.1071+171C>A (n.1071+171C>A)
c.1089C>A (p.Phe363Leu)
c.72+171C>A (n.72+171C>A)
c.1104C>A (p.Phe368Leu)
n.708C>A
n.3538C>A
c.1092C>A (p.Phe364Leu)
c.1101C>A (p.Phe367Leu)
n.418C>A
c.*971C>A (n.*971C>A)
c.471+171C>A (n.471+171C>A)
c.441C>A (p.Phe147Leu)
11g.1753633A>CCA379092678CTSDc.1109T>G (p.Phe370Cys)
c.1004T>G (p.Phe335Cys)
c.534T>G
c.*275T>G (n.*275T>G)
c.1226T>G (p.Phe409Cys)
c.1071+170T>G (n.1071+170T>G)
c.1088T>G (p.Phe363Cys)
c.72+170T>G (n.72+170T>G)
c.1103T>G (p.Phe368Cys)
n.707T>G
n.3537T>G
c.1091T>G (p.Phe364Cys)
c.1100T>G (p.Phe367Cys)
n.417T>G
c.*970T>G (n.*970T>G)
c.471+170T>G (n.471+170T>G)
c.440T>G (p.Phe147Cys)
11g.1753633A>GCA379092679CTSDc.1109T>C (p.Phe370Ser)
c.1004T>C (p.Phe335Ser)
c.534T>C
c.*275T>C (n.*275T>C)
c.1226T>C (p.Phe409Ser)
c.1071+170T>C (n.1071+170T>C)
c.1088T>C (p.Phe363Ser)
c.72+170T>C (n.72+170T>C)
c.1103T>C (p.Phe368Ser)
n.707T>C
n.3537T>C
c.1091T>C (p.Phe364Ser)
c.1100T>C (p.Phe367Ser)
n.417T>C
c.*970T>C (n.*970T>C)
c.471+170T>C (n.471+170T>C)
c.440T>C (p.Phe147Ser)
11g.1753633A>TCA379092680CTSDc.1109T>A (p.Phe370Tyr)
c.1004T>A (p.Phe335Tyr)
c.534T>A
c.*275T>A (n.*275T>A)
c.1226T>A (p.Phe409Tyr)
c.1071+170T>A (n.1071+170T>A)
c.1088T>A (p.Phe363Tyr)
c.72+170T>A (n.72+170T>A)
c.1103T>A (p.Phe368Tyr)
n.707T>A
n.3537T>A
c.1091T>A (p.Phe364Tyr)
c.1100T>A (p.Phe367Tyr)
n.417T>A
c.*970T>A (n.*970T>A)
c.471+170T>A (n.471+170T>A)
c.440T>A (p.Phe147Tyr)
11g.1753634A>CCA379092683CTSDc.1108T>G (p.Phe370Val)
c.1003T>G (p.Phe335Val)
c.533T>G
c.*274T>G (n.*274T>G)
c.1225T>G (p.Phe409Val)
c.1071+169T>G (n.1071+169T>G)
c.1087T>G (p.Phe363Val)
c.72+169T>G (n.72+169T>G)
c.1102T>G (p.Phe368Val)
n.706T>G
n.3536T>G
c.1090T>G (p.Phe364Val)
c.1099T>G (p.Phe367Val)
n.416T>G
c.*969T>G (n.*969T>G)
c.471+169T>G (n.471+169T>G)
c.439T>G (p.Phe147Val)
11g.1753634A>GCA379092682CTSDc.1108T>C (p.Phe370Leu)
c.1003T>C (p.Phe335Leu)
c.533T>C
c.*274T>C (n.*274T>C)
c.1225T>C (p.Phe409Leu)
c.1071+169T>C (n.1071+169T>C)
c.1087T>C (p.Phe363Leu)
c.72+169T>C (n.72+169T>C)
c.1102T>C (p.Phe368Leu)
n.706T>C
n.3536T>C
c.1090T>C (p.Phe364Leu)
c.1099T>C (p.Phe367Leu)
n.416T>C
c.*969T>C (n.*969T>C)
c.471+169T>C (n.471+169T>C)
c.439T>C (p.Phe147Leu)
11g.1753634A>TCA379092681CTSDc.1108T>A (p.Phe370Ile)
c.1003T>A (p.Phe335Ile)
c.533T>A
c.*274T>A (n.*274T>A)
c.1225T>A (p.Phe409Ile)
c.1071+169T>A (n.1071+169T>A)
c.1087T>A (p.Phe363Ile)
c.72+169T>A (n.72+169T>A)
c.1102T>A (p.Phe368Ile)
n.706T>A
n.3536T>A
c.1090T>A (p.Phe364Ile)
c.1099T>A (p.Phe367Ile)
n.416T>A
c.*969T>A (n.*969T>A)
c.471+169T>A (n.471+169T>A)
c.439T>A (p.Phe147Ile)
11g.1753635G>ACA472140722CTSDc.1107C>T (p.Gly369=)
c.1002C>T (p.Gly334=)
c.532C>T
c.*273C>T (n.*273C>T)
c.1224C>T (p.Gly408=)
c.1071+168C>T (n.1071+168C>T)
c.1086C>T (p.Gly362=)
c.72+168C>T (n.72+168C>T)
c.1101C>T (p.Gly367=)
n.705C>T
n.3535C>T
c.1089C>T (p.Gly363=)
c.1098C>T (p.Gly366=)
n.415C>T
c.*968C>T (n.*968C>T)
c.471+168C>T (n.471+168C>T)
c.438C>T (p.Gly146=)
11g.1753635G>CCA472140724CTSDc.1107C>G (p.Gly369=)
c.1002C>G (p.Gly334=)
c.532C>G
c.*273C>G (n.*273C>G)
c.1224C>G (p.Gly408=)
c.1071+168C>G (n.1071+168C>G)
c.1086C>G (p.Gly362=)
c.72+168C>G (n.72+168C>G)
c.1101C>G (p.Gly367=)
n.705C>G
n.3535C>G
c.1089C>G (p.Gly363=)
c.1098C>G (p.Gly366=)
n.415C>G
c.*968C>G (n.*968C>G)
c.471+168C>G (n.471+168C>G)
c.438C>G (p.Gly146=)
11g.1753635G>TCA472140727CTSDc.1107C>A (p.Gly369=)
c.1002C>A (p.Gly334=)
c.532C>A
c.*273C>A (n.*273C>A)
c.1224C>A (p.Gly408=)
c.1071+168C>A (n.1071+168C>A)
c.1086C>A (p.Gly362=)
c.72+168C>A (n.72+168C>A)
c.1101C>A (p.Gly367=)
n.705C>A
n.3535C>A
c.1089C>A (p.Gly363=)
c.1098C>A (p.Gly366=)
n.415C>A
c.*968C>A (n.*968C>A)
c.471+168C>A (n.471+168C>A)
c.438C>A (p.Gly146=)
11g.1753636C>ACA379092685CTSDc.1106G>T (p.Gly369Val)
c.1001G>T (p.Gly334Val)
c.531G>T
c.*272G>T (n.*272G>T)
c.1223G>T (p.Gly408Val)
c.1071+167G>T (n.1071+167G>T)
c.1085G>T (p.Gly362Val)
c.72+167G>T (n.72+167G>T)
c.1100G>T (p.Gly367Val)
n.704G>T
n.3534G>T
c.1088G>T (p.Gly363Val)
c.1097G>T (p.Gly366Val)
n.414G>T
c.*967G>T (n.*967G>T)
c.471+167G>T (n.471+167G>T)
c.437G>T (p.Gly146Val)
11g.1753636C>GCA379092689CTSDc.1106G>C (p.Gly369Ala)
c.1001G>C (p.Gly334Ala)
c.531G>C
c.*272G>C (n.*272G>C)
c.1223G>C (p.Gly408Ala)
c.1071+167G>C (n.1071+167G>C)
c.1085G>C (p.Gly362Ala)
c.72+167G>C (n.72+167G>C)
c.1100G>C (p.Gly367Ala)
n.704G>C
n.3534G>C
c.1088G>C (p.Gly363Ala)
c.1097G>C (p.Gly366Ala)
n.414G>C
c.*967G>C (n.*967G>C)
c.471+167G>C (n.471+167G>C)
c.437G>C (p.Gly146Ala)
11g.1753636C>TCA379092687CTSDc.1106G>A (p.Gly369Asp)
c.1001G>A (p.Gly334Asp)
c.531G>A
c.*272G>A (n.*272G>A)
c.1223G>A (p.Gly408Asp)
c.1071+167G>A (n.1071+167G>A)
c.1085G>A (p.Gly362Asp)
c.72+167G>A (n.72+167G>A)
c.1100G>A (p.Gly367Asp)
n.704G>A
n.3534G>A
c.1088G>A (p.Gly363Asp)
c.1097G>A (p.Gly366Asp)
n.414G>A
c.*967G>A (n.*967G>A)
c.471+167G>A (n.471+167G>A)
c.437G>A (p.Gly146Asp)
11g.1753637C>ACA379092691CTSDc.1105G>T (p.Gly369Cys)
c.1000G>T (p.Gly334Cys)
c.530G>T
c.*271G>T (n.*271G>T)
c.1222G>T (p.Gly408Cys)
c.1071+166G>T (n.1071+166G>T)
c.1084G>T (p.Gly362Cys)
c.72+166G>T (n.72+166G>T)
c.1099G>T (p.Gly367Cys)
n.703G>T
n.3533G>T
c.1087G>T (p.Gly363Cys)
c.1096G>T (p.Gly366Cys)
n.413G>T
c.*966G>T (n.*966G>T)
c.471+166G>T (n.471+166G>T)
c.436G>T (p.Gly146Cys)
11g.1753637C=CA1947825153CTSDc.1105G= (p.Gly369=)
c.1000G= (p.Gly334=)
c.530G=
c.*271G= (n.*271G=)
c.1222G= (p.Gly408=)
c.1071+166G= (n.1071+166G=)
c.1084G= (p.Gly362=)
c.72+166G= (n.72+166G=)
c.1099G= (p.Gly367=)
n.703G=
n.3533G=
c.1087G= (p.Gly363=)
c.1096G= (p.Gly366=)
n.413G=
c.*966G= (n.*966G=)
c.471+166G= (n.471+166G=)
c.436G= (p.Gly146=)
11g.1753637C>GCA379092692CTSDc.1105G>C (p.Gly369Arg)
c.1000G>C (p.Gly334Arg)
c.530G>C
c.*271G>C (n.*271G>C)
c.1222G>C (p.Gly408Arg)
c.1071+166G>C (n.1071+166G>C)
c.1084G>C (p.Gly362Arg)
c.72+166G>C (n.72+166G>C)
c.1099G>C (p.Gly367Arg)
n.703G>C
n.3533G>C
c.1087G>C (p.Gly363Arg)
c.1096G>C (p.Gly366Arg)
n.413G>C
c.*966G>C (n.*966G>C)
c.471+166G>C (n.471+166G>C)
c.436G>C (p.Gly146Arg)
 dbSNP gnomAD v4
11g.1753637C>TCA379092693CTSDc.1105G>A (p.Gly369Ser)
c.1000G>A (p.Gly334Ser)
c.530G>A
c.*271G>A (n.*271G>A)
c.1222G>A (p.Gly408Ser)
c.1071+166G>A (n.1071+166G>A)
c.1084G>A (p.Gly362Ser)
c.72+166G>A (n.72+166G>A)
c.1099G>A (p.Gly367Ser)
n.703G>A
n.3533G>A
c.1087G>A (p.Gly363Ser)
c.1096G>A (p.Gly366Ser)
n.413G>A
c.*966G>A (n.*966G>A)
c.471+166G>A (n.471+166G>A)
c.436G>A (p.Gly146Ser)
 ClinVar dbSNP gnomAD v4 COSMIC
11g.1753638G>ACA5813893CTSDc.1104C>T (p.Ser368=)
c.999C>T (p.Ser333=)
c.529C>T
c.*270C>T (n.*270C>T)
c.1221C>T (p.Ser407=)
c.1071+165C>T (n.1071+165C>T)
c.1083C>T (p.Ser361=)
c.72+165C>T (n.72+165C>T)
c.1098C>T (p.Ser366=)
n.702C>T
n.3532C>T
c.1086C>T (p.Ser362=)
c.1095C>T (p.Ser365=)
n.412C>T
c.*965C>T (n.*965C>T)
c.471+165C>T (n.471+165C>T)
c.435C>T (p.Ser145=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1753638G>CCA379092696CTSDc.1104C>G (p.Ser368Arg)
c.999C>G (p.Ser333Arg)
c.529C>G
c.*270C>G (n.*270C>G)
c.1221C>G (p.Ser407Arg)
c.1071+165C>G (n.1071+165C>G)
c.1083C>G (p.Ser361Arg)
c.72+165C>G (n.72+165C>G)
c.1098C>G (p.Ser366Arg)
n.702C>G
n.3532C>G
c.1086C>G (p.Ser362Arg)
c.1095C>G (p.Ser365Arg)
n.412C>G
c.*965C>G (n.*965C>G)
c.471+165C>G (n.471+165C>G)
c.435C>G (p.Ser145Arg)
11g.1753638G=CA1947825154CTSDc.1104C= (p.Ser368=)
c.999C= (p.Ser333=)
c.529C=
c.*270C= (n.*270C=)
c.1221C= (p.Ser407=)
c.1071+165C= (n.1071+165C=)
c.1083C= (p.Ser361=)
c.72+165C= (n.72+165C=)
c.1098C= (p.Ser366=)
n.702C=
n.3532C=
c.1086C= (p.Ser362=)
c.1095C= (p.Ser365=)
n.412C=
c.*965C= (n.*965C=)
c.471+165C= (n.471+165C=)
c.435C= (p.Ser145=)
11g.1753638G>TCA379092698CTSDc.1104C>A (p.Ser368Arg)
c.999C>A (p.Ser333Arg)
c.529C>A
c.*270C>A (n.*270C>A)
c.1221C>A (p.Ser407Arg)
c.1071+165C>A (n.1071+165C>A)
c.1083C>A (p.Ser361Arg)
c.72+165C>A (n.72+165C>A)
c.1098C>A (p.Ser366Arg)
n.702C>A
n.3532C>A
c.1086C>A (p.Ser362Arg)
c.1095C>A (p.Ser365Arg)
n.412C>A
c.*965C>A (n.*965C>A)
c.471+165C>A (n.471+165C>A)
c.435C>A (p.Ser145Arg)
11g.1753639C>ACA379092699CTSDc.1103G>T (p.Ser368Ile)
c.998G>T (p.Ser333Ile)
c.528G>T
c.*269G>T (n.*269G>T)
c.1220G>T (p.Ser407Ile)
c.1071+164G>T (n.1071+164G>T)
c.1082G>T (p.Ser361Ile)
c.72+164G>T (n.72+164G>T)
c.1097G>T (p.Ser366Ile)
n.701G>T
n.3531G>T
c.1085G>T (p.Ser362Ile)
c.1094G>T (p.Ser365Ile)
n.411G>T
c.*964G>T (n.*964G>T)
c.471+164G>T (n.471+164G>T)
c.434G>T (p.Ser145Ile)
11g.1753639C>GCA379092701CTSDc.1103G>C (p.Ser368Thr)
c.998G>C (p.Ser333Thr)
c.528G>C
c.*269G>C (n.*269G>C)
c.1220G>C (p.Ser407Thr)
c.1071+164G>C (n.1071+164G>C)
c.1082G>C (p.Ser361Thr)
c.72+164G>C (n.72+164G>C)
c.1097G>C (p.Ser366Thr)
n.701G>C
n.3531G>C
c.1085G>C (p.Ser362Thr)
c.1094G>C (p.Ser365Thr)
n.411G>C
c.*964G>C (n.*964G>C)
c.471+164G>C (n.471+164G>C)
c.434G>C (p.Ser145Thr)
11g.1753639C>TCA379092703CTSDc.1103G>A (p.Ser368Asn)
c.998G>A (p.Ser333Asn)
c.528G>A
c.*269G>A (n.*269G>A)
c.1220G>A (p.Ser407Asn)
c.1071+164G>A (n.1071+164G>A)
c.1082G>A (p.Ser361Asn)
c.72+164G>A (n.72+164G>A)
c.1097G>A (p.Ser366Asn)
n.701G>A
n.3531G>A
c.1085G>A (p.Ser362Asn)
c.1094G>A (p.Ser365Asn)
n.411G>A
c.*964G>A (n.*964G>A)
c.471+164G>A (n.471+164G>A)
c.434G>A (p.Ser145Asn)
11g.1753640T>ACA379092705CTSDc.1102A>T (p.Ser368Cys)
c.997A>T (p.Ser333Cys)
c.527A>T
c.*268A>T (n.*268A>T)
c.1219A>T (p.Ser407Cys)
c.1071+163A>T (n.1071+163A>T)
c.1081A>T (p.Ser361Cys)
c.72+163A>T (n.72+163A>T)
c.1096A>T (p.Ser366Cys)
n.700A>T
n.3530A>T
c.1084A>T (p.Ser362Cys)
c.1093A>T (p.Ser365Cys)
n.410A>T
c.*963A>T (n.*963A>T)
c.471+163A>T (n.471+163A>T)
c.433A>T (p.Ser145Cys)
11g.1753640T>CCA379092707CTSDc.1102A>G (p.Ser368Gly)
c.997A>G (p.Ser333Gly)
c.527A>G
c.*268A>G (n.*268A>G)
c.1219A>G (p.Ser407Gly)
c.1071+163A>G (n.1071+163A>G)
c.1081A>G (p.Ser361Gly)
c.72+163A>G (n.72+163A>G)
c.1096A>G (p.Ser366Gly)
n.700A>G
n.3530A>G
c.1084A>G (p.Ser362Gly)
c.1093A>G (p.Ser365Gly)
n.410A>G
c.*963A>G (n.*963A>G)
c.471+163A>G (n.471+163A>G)
c.433A>G (p.Ser145Gly)
11g.1753640T>GCA379092710CTSDc.1102A>C (p.Ser368Arg)
c.997A>C (p.Ser333Arg)
c.527A>C
c.*268A>C (n.*268A>C)
c.1219A>C (p.Ser407Arg)
c.1071+163A>C (n.1071+163A>C)
c.1081A>C (p.Ser361Arg)
c.72+163A>C (n.72+163A>C)
c.1096A>C (p.Ser366Arg)
n.700A>C
n.3530A>C
c.1084A>C (p.Ser362Arg)
c.1093A>C (p.Ser365Arg)
n.410A>C
c.*963A>C (n.*963A>C)
c.471+163A>C (n.471+163A>C)
c.433A>C (p.Ser145Arg)
11g.1753641C>ACA472140760CTSDc.1101G>T (p.Leu367=)
c.996G>T (p.Leu332=)
c.526G>T
c.*267G>T (n.*267G>T)
c.1218G>T (p.Leu406=)
c.1071+162G>T (n.1071+162G>T)
c.1080G>T (p.Leu360=)
c.72+162G>T (n.72+162G>T)
c.1095G>T (p.Leu365=)
n.699G>T
n.3529G>T
c.1083G>T (p.Leu361=)
c.1092G>T (p.Leu364=)
n.409G>T
c.*962G>T (n.*962G>T)
c.471+162G>T (n.471+162G>T)
c.432G>T (p.Leu144=)
 gnomAD v4
11g.1753641C=CA1947825155CTSDc.1101G= (p.Leu367=)
c.996G= (p.Leu332=)
c.526G=
c.*267G= (n.*267G=)
c.1218G= (p.Leu406=)
c.1071+162G= (n.1071+162G=)
c.1080G= (p.Leu360=)
c.72+162G= (n.72+162G=)
c.1095G= (p.Leu365=)
n.699G=
n.3529G=
c.1083G= (p.Leu361=)
c.1092G= (p.Leu364=)
n.409G=
c.*962G= (n.*962G=)
c.471+162G= (n.471+162G=)
c.432G= (p.Leu144=)
11g.1753641C>GCA472140763CTSDc.1101G>C (p.Leu367=)
c.996G>C (p.Leu332=)
c.526G>C
c.*267G>C (n.*267G>C)
c.1218G>C (p.Leu406=)
c.1071+162G>C (n.1071+162G>C)
c.1080G>C (p.Leu360=)
c.72+162G>C (n.72+162G>C)
c.1095G>C (p.Leu365=)
n.699G>C
n.3529G>C
c.1083G>C (p.Leu361=)
c.1092G>C (p.Leu364=)
n.409G>C
c.*962G>C (n.*962G>C)
c.471+162G>C (n.471+162G>C)
c.432G>C (p.Leu144=)
11g.1753641C>TCA5813894CTSDc.1101G>A (p.Leu367=)
c.996G>A (p.Leu332=)
c.526G>A
c.*267G>A (n.*267G>A)
c.1218G>A (p.Leu406=)
c.1071+162G>A (n.1071+162G>A)
c.1080G>A (p.Leu360=)
c.72+162G>A (n.72+162G>A)
c.1095G>A (p.Leu365=)
n.699G>A
n.3529G>A
c.1083G>A (p.Leu361=)
c.1092G>A (p.Leu364=)
n.409G>A
c.*962G>A (n.*962G>A)
c.471+162G>A (n.471+162G>A)
c.432G>A (p.Leu144=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.1753644_1753647dupCA2611927120CTSDc.1098_1101dup (p.Ser368ProfsTer?)
c.993_996dup (p.Ser333ProfsTer?)
c.523_526dup
c.*264_*267dup (n.*264_*267dup)
c.1215_1218dup (p.Ser407ProfsTer?)
c.1071+159_1071+162dup (n.1071+159_1071+162dup)
c.1077_1080dup (p.Ser361ProfsTer?)
c.72+159_72+162dup (n.72+159_72+162dup)
c.1092_1095dup (p.Ser366ProfsTer?)
n.696_699dup
n.3526_3529dup
c.1080_1083dup (p.Ser362ProfsTer?)
c.1089_1092dup (p.Ser365ProfsTer?)
n.406_409dup
c.*959_*962dup (n.*959_*962dup)
c.471+159_471+162dup (n.471+159_471+162dup)
c.429_432dup (p.Ser145ProfsTer?)
 gnomAD v4
11g.1753642A>CCA379092713CTSDc.1100T>G (p.Leu367Arg)
c.995T>G (p.Leu332Arg)
c.525T>G
c.*266T>G (n.*266T>G)
c.1217T>G (p.Leu406Arg)
c.1071+161T>G (n.1071+161T>G)
c.1079T>G (p.Leu360Arg)
c.72+161T>G (n.72+161T>G)
c.1094T>G (p.Leu365Arg)
n.698T>G
n.3528T>G
c.1082T>G (p.Leu361Arg)
c.1091T>G (p.Leu364Arg)
n.408T>G
c.*961T>G (n.*961T>G)
c.471+161T>G (n.471+161T>G)
c.431T>G (p.Leu144Arg)
11g.1753642A>GCA379092714CTSDc.1100T>C (p.Leu367Pro)
c.995T>C (p.Leu332Pro)
c.525T>C
c.*266T>C (n.*266T>C)
c.1217T>C (p.Leu406Pro)
c.1071+161T>C (n.1071+161T>C)
c.1079T>C (p.Leu360Pro)
c.72+161T>C (n.72+161T>C)
c.1094T>C (p.Leu365Pro)
n.698T>C
n.3528T>C
c.1082T>C (p.Leu361Pro)
c.1091T>C (p.Leu364Pro)
n.408T>C
c.*961T>C (n.*961T>C)
c.471+161T>C (n.471+161T>C)
c.431T>C (p.Leu144Pro)
 gnomAD v4
11g.1753642A>TCA379092715CTSDc.1100T>A (p.Leu367Gln)
c.995T>A (p.Leu332Gln)
c.525T>A
c.*266T>A (n.*266T>A)
c.1217T>A (p.Leu406Gln)
c.1071+161T>A (n.1071+161T>A)
c.1079T>A (p.Leu360Gln)
c.72+161T>A (n.72+161T>A)
c.1094T>A (p.Leu365Gln)
n.698T>A
n.3528T>A
c.1082T>A (p.Leu361Gln)
c.1091T>A (p.Leu364Gln)
n.408T>A
c.*961T>A (n.*961T>A)
c.471+161T>A (n.471+161T>A)
c.431T>A (p.Leu144Gln)
11g.1753643G>ACA472140770CTSDc.1099C>T (p.Leu367=)
c.994C>T (p.Leu332=)
c.524C>T
c.*265C>T (n.*265C>T)
c.1216C>T (p.Leu406=)
c.1071+160C>T (n.1071+160C>T)
c.1078C>T (p.Leu360=)
c.72+160C>T (n.72+160C>T)
c.1093C>T (p.Leu365=)
n.697C>T
n.3527C>T
c.1081C>T (p.Leu361=)
c.1090C>T (p.Leu364=)
n.407C>T
c.*960C>T (n.*960C>T)
c.471+160C>T (n.471+160C>T)
c.430C>T (p.Leu144=)
11g.1753643G>CCA379092717CTSDc.1099C>G (p.Leu367Val)
c.994C>G (p.Leu332Val)
c.524C>G
c.*265C>G (n.*265C>G)
c.1216C>G (p.Leu406Val)
c.1071+160C>G (n.1071+160C>G)
c.1078C>G (p.Leu360Val)
c.72+160C>G (n.72+160C>G)
c.1093C>G (p.Leu365Val)
n.697C>G
n.3527C>G
c.1081C>G (p.Leu361Val)
c.1090C>G (p.Leu364Val)
n.407C>G
c.*960C>G (n.*960C>G)
c.471+160C>G (n.471+160C>G)
c.430C>G (p.Leu144Val)
11g.1753643G>TCA379092718CTSDc.1099C>A (p.Leu367Met)
c.994C>A (p.Leu332Met)
c.524C>A
c.*265C>A (n.*265C>A)
c.1216C>A (p.Leu406Met)
c.1071+160C>A (n.1071+160C>A)
c.1078C>A (p.Leu360Met)
c.72+160C>A (n.72+160C>A)
c.1093C>A (p.Leu365Met)
n.697C>A
n.3527C>A
c.1081C>A (p.Leu361Met)
c.1090C>A (p.Leu364Met)
n.407C>A
c.*960C>A (n.*960C>A)
c.471+160C>A (n.471+160C>A)
c.430C>A (p.Leu144Met)
11g.1753644G>ACA472140781CTSDc.1098C>T (p.Cys366=)
c.993C>T (p.Cys331=)
c.523C>T
c.*264C>T (n.*264C>T)
c.1215C>T (p.Cys405=)
c.1071+159C>T (n.1071+159C>T)
c.1077C>T (p.Cys359=)
c.72+159C>T (n.72+159C>T)
c.1092C>T (p.Cys364=)
n.696C>T
n.3526C>T
c.1080C>T (p.Cys360=)
c.1089C>T (p.Cys363=)
n.406C>T
c.*959C>T (n.*959C>T)
c.471+159C>T (n.471+159C>T)
c.429C>T (p.Cys143=)
11g.1753644G>CCA379092721CTSDc.1098C>G (p.Cys366Trp)
c.993C>G (p.Cys331Trp)
c.523C>G
c.*264C>G (n.*264C>G)
c.1215C>G (p.Cys405Trp)
c.1071+159C>G (n.1071+159C>G)
c.1077C>G (p.Cys359Trp)
c.72+159C>G (n.72+159C>G)
c.1092C>G (p.Cys364Trp)
n.696C>G
n.3526C>G
c.1080C>G (p.Cys360Trp)
c.1089C>G (p.Cys363Trp)
n.406C>G
c.*959C>G (n.*959C>G)
c.471+159C>G (n.471+159C>G)
c.429C>G (p.Cys143Trp)
11g.1753644G>TCA379092722CTSDc.1098C>A (p.Cys366Ter)
c.993C>A (p.Cys331Ter)
c.523C>A
c.*264C>A (n.*264C>A)
c.1215C>A (p.Cys405Ter)
c.1071+159C>A (n.1071+159C>A)
c.1077C>A (p.Cys359Ter)
c.72+159C>A (n.72+159C>A)
c.1092C>A (p.Cys364Ter)
n.696C>A
n.3526C>A
c.1080C>A (p.Cys360Ter)
c.1089C>A (p.Cys363Ter)
n.406C>A
c.*959C>A (n.*959C>A)
c.471+159C>A (n.471+159C>A)
c.429C>A (p.Cys143Ter)
11g.1753645C>ACA379092723CTSDc.1097G>T (p.Cys366Phe)
c.992G>T (p.Cys331Phe)
c.522G>T
c.*263G>T (n.*263G>T)
c.1214G>T (p.Cys405Phe)
c.1071+158G>T (n.1071+158G>T)
c.1076G>T (p.Cys359Phe)
c.72+158G>T (n.72+158G>T)
c.1091G>T (p.Cys364Phe)
n.695G>T
n.3525G>T
c.1079G>T (p.Cys360Phe)
c.1088G>T (p.Cys363Phe)
n.405G>T
c.*958G>T (n.*958G>T)
c.471+158G>T (n.471+158G>T)
c.428G>T (p.Cys143Phe)
11g.1753645C>GCA379092725CTSDc.1097G>C (p.Cys366Ser)
c.992G>C (p.Cys331Ser)
c.522G>C
c.*263G>C (n.*263G>C)
c.1214G>C (p.Cys405Ser)
c.1071+158G>C (n.1071+158G>C)
c.1076G>C (p.Cys359Ser)
c.72+158G>C (n.72+158G>C)
c.1091G>C (p.Cys364Ser)
n.695G>C
n.3525G>C
c.1079G>C (p.Cys360Ser)
c.1088G>C (p.Cys363Ser)
n.405G>C
c.*958G>C (n.*958G>C)
c.471+158G>C (n.471+158G>C)
c.428G>C (p.Cys143Ser)
11g.1753645C>TCA379092727CTSDc.1097G>A (p.Cys366Tyr)
c.992G>A (p.Cys331Tyr)
c.522G>A
c.*263G>A (n.*263G>A)
c.1214G>A (p.Cys405Tyr)
c.1071+158G>A (n.1071+158G>A)
c.1076G>A (p.Cys359Tyr)
c.72+158G>A (n.72+158G>A)
c.1091G>A (p.Cys364Tyr)
n.695G>A
n.3525G>A
c.1079G>A (p.Cys360Tyr)
c.1088G>A (p.Cys363Tyr)
n.405G>A
c.*958G>A (n.*958G>A)
c.471+158G>A (n.471+158G>A)
c.428G>A (p.Cys143Tyr)
11g.1753646A>CCA379092728CTSDc.1096T>G (p.Cys366Gly)
c.991T>G (p.Cys331Gly)
c.521T>G
c.*262T>G (n.*262T>G)
c.1213T>G (p.Cys405Gly)
c.1071+157T>G (n.1071+157T>G)
c.1075T>G (p.Cys359Gly)
c.72+157T>G (n.72+157T>G)
c.1090T>G (p.Cys364Gly)
n.694T>G
n.3524T>G
c.1078T>G (p.Cys360Gly)
c.1087T>G (p.Cys363Gly)
n.404T>G
c.*957T>G (n.*957T>G)
c.471+157T>G (n.471+157T>G)
c.427T>G (p.Cys143Gly)
11g.1753646A>GCA379092730CTSDc.1096T>C (p.Cys366Arg)
c.991T>C (p.Cys331Arg)
c.521T>C
c.*262T>C (n.*262T>C)
c.1213T>C (p.Cys405Arg)
c.1071+157T>C (n.1071+157T>C)
c.1075T>C (p.Cys359Arg)
c.72+157T>C (n.72+157T>C)
c.1090T>C (p.Cys364Arg)
n.694T>C
n.3524T>C
c.1078T>C (p.Cys360Arg)
c.1087T>C (p.Cys363Arg)
n.404T>C
c.*957T>C (n.*957T>C)
c.471+157T>C (n.471+157T>C)
c.427T>C (p.Cys143Arg)
11g.1753646A>TCA379092731CTSDc.1096T>A (p.Cys366Ser)
c.991T>A (p.Cys331Ser)
c.521T>A
c.*262T>A (n.*262T>A)
c.1213T>A (p.Cys405Ser)
c.1071+157T>A (n.1071+157T>A)
c.1075T>A (p.Cys359Ser)
c.72+157T>A (n.72+157T>A)
c.1090T>A (p.Cys364Ser)
n.694T>A
n.3524T>A
c.1078T>A (p.Cys360Ser)
c.1087T>A (p.Cys363Ser)
n.404T>A
c.*957T>A (n.*957T>A)
c.471+157T>A (n.471+157T>A)
c.427T>A (p.Cys143Ser)
 gnomAD v4
11g.1753647G>ACA472140796CTSDc.1095C>T (p.Leu365=)
c.990C>T (p.Leu330=)
c.520C>T
c.*261C>T (n.*261C>T)
c.1212C>T (p.Leu404=)
c.1071+156C>T (n.1071+156C>T)
c.1074C>T (p.Leu358=)
c.72+156C>T (n.72+156C>T)
c.1089C>T (p.Leu363=)
n.693C>T
n.3523C>T
c.1077C>T (p.Leu359=)
c.1086C>T (p.Leu362=)
n.403C>T
c.*956C>T (n.*956C>T)
c.471+156C>T (n.471+156C>T)
c.426C>T (p.Leu142=)
11g.1753647G>CCA472140799CTSDc.1095C>G (p.Leu365=)
c.990C>G (p.Leu330=)
c.520C>G
c.*261C>G (n.*261C>G)
c.1212C>G (p.Leu404=)
c.1071+156C>G (n.1071+156C>G)
c.1074C>G (p.Leu358=)
c.72+156C>G (n.72+156C>G)
c.1089C>G (p.Leu363=)
n.693C>G
n.3523C>G
c.1077C>G (p.Leu359=)
c.1086C>G (p.Leu362=)
n.403C>G
c.*956C>G (n.*956C>G)
c.471+156C>G (n.471+156C>G)
c.426C>G (p.Leu142=)
11g.1753647G>TCA472140802CTSDc.1095C>A (p.Leu365=)
c.990C>A (p.Leu330=)
c.520C>A
c.*261C>A (n.*261C>A)
c.1212C>A (p.Leu404=)
c.1071+156C>A (n.1071+156C>A)
c.1074C>A (p.Leu358=)
c.72+156C>A (n.72+156C>A)
c.1089C>A (p.Leu363=)
n.693C>A
n.3523C>A
c.1077C>A (p.Leu359=)
c.1086C>A (p.Leu362=)
n.403C>A
c.*956C>A (n.*956C>A)
c.471+156C>A (n.471+156C>A)
c.426C>A (p.Leu142=)
11g.1753648A>CCA379092733CTSDc.1094T>G (p.Leu365Arg)
c.989T>G (p.Leu330Arg)
c.519T>G
c.*260T>G (n.*260T>G)
c.1211T>G (p.Leu404Arg)
c.1071+155T>G (n.1071+155T>G)
c.1073T>G (p.Leu358Arg)
c.72+155T>G (n.72+155T>G)
c.1088T>G (p.Leu363Arg)
n.692T>G
n.3522T>G
c.1076T>G (p.Leu359Arg)
c.1085T>G (p.Leu362Arg)
n.402T>G
c.*955T>G (n.*955T>G)
c.471+155T>G (n.471+155T>G)
c.425T>G (p.Leu142Arg)
11g.1753648A>GCA379092736CTSDc.1094T>C (p.Leu365Pro)
c.989T>C (p.Leu330Pro)
c.519T>C
c.*260T>C (n.*260T>C)
c.1211T>C (p.Leu404Pro)
c.1071+155T>C (n.1071+155T>C)
c.1073T>C (p.Leu358Pro)
c.72+155T>C (n.72+155T>C)
c.1088T>C (p.Leu363Pro)
n.692T>C
n.3522T>C
c.1076T>C (p.Leu359Pro)
c.1085T>C (p.Leu362Pro)
n.402T>C
c.*955T>C (n.*955T>C)
c.471+155T>C (n.471+155T>C)
c.425T>C (p.Leu142Pro)
 gnomAD v4
11g.1753648A>TCA379092734CTSDc.1094T>A (p.Leu365His)
c.989T>A (p.Leu330His)
c.519T>A
c.*260T>A (n.*260T>A)
c.1211T>A (p.Leu404His)
c.1071+155T>A (n.1071+155T>A)
c.1073T>A (p.Leu358His)
c.72+155T>A (n.72+155T>A)
c.1088T>A (p.Leu363His)
n.692T>A
n.3522T>A
c.1076T>A (p.Leu359His)
c.1085T>A (p.Leu362His)
n.402T>A
c.*955T>A (n.*955T>A)
c.471+155T>A (n.471+155T>A)
c.425T>A (p.Leu142His)
11g.1753649G>ACA379092737CTSDc.1093C>T (p.Leu365Phe)
c.988C>T (p.Leu330Phe)
c.518C>T
c.*259C>T (n.*259C>T)
c.1210C>T (p.Leu404Phe)
c.1071+154C>T (n.1071+154C>T)
c.1072C>T (p.Leu358Phe)
c.72+154C>T (n.72+154C>T)
c.1087C>T (p.Leu363Phe)
n.691C>T
n.3521C>T
c.1075C>T (p.Leu359Phe)
c.1084C>T (p.Leu362Phe)
n.401C>T
c.*954C>T (n.*954C>T)
c.471+154C>T (n.471+154C>T)
c.424C>T (p.Leu142Phe)
 dbSNP
11g.1753649G>CCA379092740CTSDc.1093C>G (p.Leu365Val)
c.988C>G (p.Leu330Val)
c.518C>G
c.*259C>G (n.*259C>G)
c.1210C>G (p.Leu404Val)
c.1071+154C>G (n.1071+154C>G)
c.1072C>G (p.Leu358Val)
c.72+154C>G (n.72+154C>G)
c.1087C>G (p.Leu363Val)
n.691C>G
n.3521C>G
c.1075C>G (p.Leu359Val)
c.1084C>G (p.Leu362Val)
n.401C>G
c.*954C>G (n.*954C>G)
c.471+154C>G (n.471+154C>G)
c.424C>G (p.Leu142Val)
11g.1753649G=CA1947825156CTSDc.1093C= (p.Leu365=)
c.988C= (p.Leu330=)
c.518C=
c.*259C= (n.*259C=)
c.1210C= (p.Leu404=)
c.1071+154C= (n.1071+154C=)
c.1072C= (p.Leu358=)
c.72+154C= (n.72+154C=)
c.1087C= (p.Leu363=)
n.691C=
n.3521C=
c.1075C= (p.Leu359=)
c.1084C= (p.Leu362=)
n.401C=
c.*954C= (n.*954C=)
c.471+154C= (n.471+154C=)
c.424C= (p.Leu142=)
11g.1753649G>TCA379092738CTSDc.1093C>A (p.Leu365Ile)
c.988C>A (p.Leu330Ile)
c.518C>A
c.*259C>A (n.*259C>A)
c.1210C>A (p.Leu404Ile)
c.1071+154C>A (n.1071+154C>A)
c.1072C>A (p.Leu358Ile)
c.72+154C>A (n.72+154C>A)
c.1087C>A (p.Leu363Ile)
n.691C>A
n.3521C>A
c.1075C>A (p.Leu359Ile)
c.1084C>A (p.Leu362Ile)
n.401C>A
c.*954C>A (n.*954C>A)
c.471+154C>A (n.471+154C>A)
c.424C>A (p.Leu142Ile)
11g.1753650G>ACA472140825CTSDc.1092C>T (p.Thr364=)
c.987C>T (p.Thr329=)
c.517C>T
c.*258C>T (n.*258C>T)
c.1209C>T (p.Thr403=)
c.1071+153C>T (n.1071+153C>T)
c.1071C>T (p.Thr357=)
c.72+153C>T (n.72+153C>T)
c.1086C>T (p.Thr362=)
n.690C>T
n.3520C>T
c.1074C>T (p.Thr358=)
c.1083C>T (p.Thr361=)
n.400C>T
c.*953C>T (n.*953C>T)
c.471+153C>T (n.471+153C>T)
c.423C>T (p.Thr141=)
 gnomAD v4
11g.1753650G>CCA472140827CTSDc.1092C>G (p.Thr364=)
c.987C>G (p.Thr329=)
c.517C>G
c.*258C>G (n.*258C>G)
c.1209C>G (p.Thr403=)
c.1071+153C>G (n.1071+153C>G)
c.1071C>G (p.Thr357=)
c.72+153C>G (n.72+153C>G)
c.1086C>G (p.Thr362=)
n.690C>G
n.3520C>G
c.1074C>G (p.Thr358=)
c.1083C>G (p.Thr361=)
n.400C>G
c.*953C>G (n.*953C>G)
c.471+153C>G (n.471+153C>G)
c.423C>G (p.Thr141=)
11g.1753650G>TCA472140823CTSDc.1092C>A (p.Thr364=)
c.987C>A (p.Thr329=)
c.517C>A
c.*258C>A (n.*258C>A)
c.1209C>A (p.Thr403=)
c.1071+153C>A (n.1071+153C>A)
c.1071C>A (p.Thr357=)
c.72+153C>A (n.72+153C>A)
c.1086C>A (p.Thr362=)
n.690C>A
n.3520C>A
c.1074C>A (p.Thr358=)
c.1083C>A (p.Thr361=)
n.400C>A
c.*953C>A (n.*953C>A)
c.471+153C>A (n.471+153C>A)
c.423C>A (p.Thr141=)
11g.1753651G>ACA379092742CTSDc.1091C>T (p.Thr364Ile)
c.986C>T (p.Thr329Ile)
c.516C>T
c.*257C>T (n.*257C>T)
c.1208C>T (p.Thr403Ile)
c.1071+152C>T (n.1071+152C>T)
c.1070C>T (p.Thr357Ile)
c.72+152C>T (n.72+152C>T)
c.1085C>T (p.Thr362Ile)
n.689C>T
n.3519C>T
c.1073C>T (p.Thr358Ile)
c.1082C>T (p.Thr361Ile)
n.399C>T
c.*952C>T (n.*952C>T)
c.471+152C>T (n.471+152C>T)
c.422C>T (p.Thr141Ile)
 gnomAD v4
11g.1753651G>CCA379092743CTSDc.1091C>G (p.Thr364Ser)
c.986C>G (p.Thr329Ser)
c.516C>G
c.*257C>G (n.*257C>G)
c.1208C>G (p.Thr403Ser)
c.1071+152C>G (n.1071+152C>G)
c.1070C>G (p.Thr357Ser)
c.72+152C>G (n.72+152C>G)
c.1085C>G (p.Thr362Ser)
n.689C>G
n.3519C>G
c.1073C>G (p.Thr358Ser)
c.1082C>G (p.Thr361Ser)
n.399C>G
c.*952C>G (n.*952C>G)
c.471+152C>G (n.471+152C>G)
c.422C>G (p.Thr141Ser)
 dbSNP
11g.1753651G=CA1947825157CTSDc.1091C= (p.Thr364=)
c.986C= (p.Thr329=)
c.516C=
c.*257C= (n.*257C=)
c.1208C= (p.Thr403=)
c.1071+152C= (n.1071+152C=)
c.1070C= (p.Thr357=)
c.72+152C= (n.72+152C=)
c.1085C= (p.Thr362=)
n.689C=
n.3519C=
c.1073C= (p.Thr358=)
c.1082C= (p.Thr361=)
n.399C=
c.*952C= (n.*952C=)
c.471+152C= (n.471+152C=)
c.422C= (p.Thr141=)
11g.1753651G>TCA379092744CTSDc.1091C>A (p.Thr364Asn)
c.986C>A (p.Thr329Asn)
c.516C>A
c.*257C>A (n.*257C>A)
c.1208C>A (p.Thr403Asn)
c.1071+152C>A (n.1071+152C>A)
c.1070C>A (p.Thr357Asn)
c.72+152C>A (n.72+152C>A)
c.1085C>A (p.Thr362Asn)
n.689C>A
n.3519C>A
c.1073C>A (p.Thr358Asn)
c.1082C>A (p.Thr361Asn)
n.399C>A
c.*952C>A (n.*952C>A)
c.471+152C>A (n.471+152C>A)
c.422C>A (p.Thr141Asn)
 gnomAD v4
11g.1753652T>ACA379092746CTSDc.1090A>T (p.Thr364Ser)
c.985A>T (p.Thr329Ser)
c.515A>T
c.*256A>T (n.*256A>T)
c.1207A>T (p.Thr403Ser)
n.798A>T
c.1071+151A>T (n.1071+151A>T)
c.1069A>T (p.Thr357Ser)
c.72+151A>T (n.72+151A>T)
c.1084A>T (p.Thr362Ser)
n.688A>T
n.3518A>T
c.1072A>T (p.Thr358Ser)
c.1081A>T (p.Thr361Ser)
n.398A>T
c.*951A>T (n.*951A>T)
c.471+151A>T (n.471+151A>T)
c.421A>T (p.Thr141Ser)
11g.1753652T>CCA379092748CTSDc.1090A>G (p.Thr364Ala)
c.985A>G (p.Thr329Ala)
c.515A>G
c.*256A>G (n.*256A>G)
c.1207A>G (p.Thr403Ala)
n.798A>G
c.1071+151A>G (n.1071+151A>G)
c.1069A>G (p.Thr357Ala)
c.72+151A>G (n.72+151A>G)
c.1084A>G (p.Thr362Ala)
n.688A>G
n.3518A>G
c.1072A>G (p.Thr358Ala)
c.1081A>G (p.Thr361Ala)
n.398A>G
c.*951A>G (n.*951A>G)
c.471+151A>G (n.471+151A>G)
c.421A>G (p.Thr141Ala)
11g.1753652T>GCA379092749CTSDc.1090A>C (p.Thr364Pro)
c.985A>C (p.Thr329Pro)
c.515A>C
c.*256A>C (n.*256A>C)
c.1207A>C (p.Thr403Pro)
n.798A>C
c.1071+151A>C (n.1071+151A>C)
c.1069A>C (p.Thr357Pro)
c.72+151A>C (n.72+151A>C)
c.1084A>C (p.Thr362Pro)
n.688A>C
n.3518A>C
c.1072A>C (p.Thr358Pro)
c.1081A>C (p.Thr361Pro)
n.398A>C
c.*951A>C (n.*951A>C)
c.471+151A>C (n.471+151A>C)
c.421A>C (p.Thr141Pro)
11g.1753653C>ACA379092750CTSDc.1089G>T (p.Lys363Asn)
c.984G>T (p.Lys328Asn)
c.514G>T
c.*255G>T (n.*255G>T)
c.1206G>T (p.Lys402Asn)
n.797G>T
c.1071+150G>T (n.1071+150G>T)
c.1068G>T (p.Lys356Asn)
c.72+150G>T (n.72+150G>T)
c.1083G>T (p.Lys361Asn)
n.687G>T
n.3517G>T
c.1071G>T (p.Lys357Asn)
c.1080G>T (p.Lys360Asn)
n.397G>T
c.*950G>T (n.*950G>T)
c.471+150G>T (n.471+150G>T)
c.420G>T (p.Lys140Asn)
 gnomAD v4
11g.1753653C>GCA379092751CTSDc.1089G>C (p.Lys363Asn)
c.984G>C (p.Lys328Asn)
c.514G>C
c.*255G>C (n.*255G>C)
c.1206G>C (p.Lys402Asn)
n.797G>C
c.1071+150G>C (n.1071+150G>C)
c.1068G>C (p.Lys356Asn)
c.72+150G>C (n.72+150G>C)
c.1083G>C (p.Lys361Asn)
n.687G>C
n.3517G>C
c.1071G>C (p.Lys357Asn)
c.1080G>C (p.Lys360Asn)
n.397G>C
c.*950G>C (n.*950G>C)
c.471+150G>C (n.471+150G>C)
c.420G>C (p.Lys140Asn)
11g.1753653C>TCA472140839CTSDc.1089G>A (p.Lys363=)
c.984G>A (p.Lys328=)
c.514G>A
c.*255G>A (n.*255G>A)
c.1206G>A (p.Lys402=)
n.797G>A
c.1071+150G>A (n.1071+150G>A)
c.1068G>A (p.Lys356=)
c.72+150G>A (n.72+150G>A)
c.1083G>A (p.Lys361=)
n.687G>A
n.3517G>A
c.1071G>A (p.Lys357=)
c.1080G>A (p.Lys360=)
n.397G>A
c.*950G>A (n.*950G>A)
c.471+150G>A (n.471+150G>A)
c.420G>A (p.Lys140=)
 gnomAD v4
11g.1753654T>ACA379092753CTSDc.1088A>T (p.Lys363Met)
c.983A>T (p.Lys328Met)
c.513A>T
c.*254A>T (n.*254A>T)
c.1205A>T (p.Lys402Met)
n.796A>T
c.1071+149A>T (n.1071+149A>T)
c.1067A>T (p.Lys356Met)
c.72+149A>T (n.72+149A>T)
c.1082A>T (p.Lys361Met)
n.686A>T
n.3516A>T
c.1070A>T (p.Lys357Met)
c.1079A>T (p.Lys360Met)
n.396A>T
c.*949A>T (n.*949A>T)
c.471+149A>T (n.471+149A>T)
c.419A>T (p.Lys140Met)
11g.1753654T>CCA216168766CTSDc.1088A>G (p.Lys363Arg)
c.983A>G (p.Lys328Arg)
c.513A>G
c.*254A>G (n.*254A>G)
c.1205A>G (p.Lys402Arg)
n.796A>G
c.1071+149A>G (n.1071+149A>G)
c.1067A>G (p.Lys356Arg)
c.72+149A>G (n.72+149A>G)
c.1082A>G (p.Lys361Arg)
n.686A>G
n.3516A>G
c.1070A>G (p.Lys357Arg)
c.1079A>G (p.Lys360Arg)
n.396A>G
c.*949A>G (n.*949A>G)
c.471+149A>G (n.471+149A>G)
c.419A>G (p.Lys140Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.1753654T>GCA379092754CTSDc.1088A>C (p.Lys363Thr)
c.983A>C (p.Lys328Thr)
c.513A>C
c.*254A>C (n.*254A>C)
c.1205A>C (p.Lys402Thr)
n.796A>C
c.1071+149A>C (n.1071+149A>C)
c.1067A>C (p.Lys356Thr)
c.72+149A>C (n.72+149A>C)
c.1082A>C (p.Lys361Thr)
n.686A>C
n.3516A>C
c.1070A>C (p.Lys357Thr)
c.1079A>C (p.Lys360Thr)
n.396A>C
c.*949A>C (n.*949A>C)
c.471+149A>C (n.471+149A>C)
c.419A>C (p.Lys140Thr)
11g.1753654T=CA1947825158CTSDc.1088A= (p.Lys363=)
c.983A= (p.Lys328=)
c.513A=
c.*254A= (n.*254A=)
c.1205A= (p.Lys402=)
n.796A=
c.1071+149A= (n.1071+149A=)
c.1067A= (p.Lys356=)
c.72+149A= (n.72+149A=)
c.1082A= (p.Lys361=)
n.686A=
n.3516A=
c.1070A= (p.Lys357=)
c.1079A= (p.Lys360=)
n.396A=
c.*949A= (n.*949A=)
c.471+149A= (n.471+149A=)
c.419A= (p.Lys140=)
11g.1753655T>ACA379092758CTSDc.1087A>T (p.Lys363Ter)
c.982A>T (p.Lys328Ter)
c.512A>T
c.*253A>T (n.*253A>T)
c.1204A>T (p.Lys402Ter)
n.795A>T
c.1071+148A>T (n.1071+148A>T)
c.1066A>T (p.Lys356Ter)
c.72+148A>T (n.72+148A>T)
c.1081A>T (p.Lys361Ter)
n.685A>T
n.3515A>T
c.1069A>T (p.Lys357Ter)
c.1078A>T (p.Lys360Ter)
n.395A>T
c.*948A>T (n.*948A>T)
c.471+148A>T (n.471+148A>T)
c.418A>T (p.Lys140Ter)
11g.1753655T>CCA379092757CTSDc.1087A>G (p.Lys363Glu)
c.982A>G (p.Lys328Glu)
c.512A>G
c.*253A>G (n.*253A>G)
c.1204A>G (p.Lys402Glu)
n.795A>G
c.1071+148A>G (n.1071+148A>G)
c.1066A>G (p.Lys356Glu)
c.72+148A>G (n.72+148A>G)
c.1081A>G (p.Lys361Glu)
n.685A>G
n.3515A>G
c.1069A>G (p.Lys357Glu)
c.1078A>G (p.Lys360Glu)
n.395A>G
c.*948A>G (n.*948A>G)
c.471+148A>G (n.471+148A>G)
c.418A>G (p.Lys140Glu)
11g.1753655T>GCA379092755CTSDc.1087A>C (p.Lys363Gln)
c.982A>C (p.Lys328Gln)
c.512A>C
c.*253A>C (n.*253A>C)
c.1204A>C (p.Lys402Gln)
n.795A>C
c.1071+148A>C (n.1071+148A>C)
c.1066A>C (p.Lys356Gln)
c.72+148A>C (n.72+148A>C)
c.1081A>C (p.Lys361Gln)
n.685A>C
n.3515A>C
c.1069A>C (p.Lys357Gln)
c.1078A>C (p.Lys360Gln)
n.395A>C
c.*948A>C (n.*948A>C)
c.471+148A>C (n.471+148A>C)
c.418A>C (p.Lys140Gln)
11g.1753656C>ACA472140866CTSDc.1086G>T (p.Gly362=)
c.981G>T (p.Gly327=)
c.511G>T
c.*252G>T (n.*252G>T)
c.1203G>T (p.Gly401=)
n.794G>T
c.1071+147G>T (n.1071+147G>T)
c.1065G>T (p.Gly355=)
c.72+147G>T (n.72+147G>T)
c.1080G>T (p.Gly360=)
n.684G>T
n.3514G>T
c.1068G>T (p.Gly356=)
c.1077G>T (p.Gly359=)
n.394G>T
c.*947G>T (n.*947G>T)
c.471+147G>T (n.471+147G>T)
c.417G>T (p.Gly139=)
11g.1753656C>GCA472140868CTSDc.1086G>C (p.Gly362=)
c.981G>C (p.Gly327=)
c.511G>C
c.*252G>C (n.*252G>C)
c.1203G>C (p.Gly401=)
n.794G>C
c.1071+147G>C (n.1071+147G>C)
c.1065G>C (p.Gly355=)
c.72+147G>C (n.72+147G>C)
c.1080G>C (p.Gly360=)
n.684G>C
n.3514G>C
c.1068G>C (p.Gly356=)
c.1077G>C (p.Gly359=)
n.394G>C
c.*947G>C (n.*947G>C)
c.471+147G>C (n.471+147G>C)
c.417G>C (p.Gly139=)
11g.1753656C>TCA472140874CTSDc.1086G>A (p.Gly362=)
c.981G>A (p.Gly327=)
c.511G>A
c.*252G>A (n.*252G>A)
c.1203G>A (p.Gly401=)
n.794G>A
c.1071+147G>A (n.1071+147G>A)
c.1065G>A (p.Gly355=)
c.72+147G>A (n.72+147G>A)
c.1080G>A (p.Gly360=)
n.684G>A
n.3514G>A
c.1068G>A (p.Gly356=)
c.1077G>A (p.Gly359=)
n.394G>A
c.*947G>A (n.*947G>A)
c.471+147G>A (n.471+147G>A)
c.417G>A (p.Gly139=)

Number of alleles fetched