Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.133766381C>ACA435815646TFc.1434C>A (p.Gly478=)
c.104C>A
c.1302C>A (p.Gly434=)
c.1053C>A (p.Gly351=)
3g.133766381C>GCA435815647TFc.1434C>G (p.Gly478=)
c.104C>G
c.1302C>G (p.Gly434=)
c.1053C>G (p.Gly351=)
3g.133766381C>TCA435815648TFc.1434C>T (p.Gly478=)
c.104C>T
c.1302C>T (p.Gly434=)
c.1053C>T (p.Gly351=)
3g.133766382T>ACA354608731TFc.1435T>A (p.Trp479Arg)
c.105T>A
c.1303T>A (p.Trp435Arg)
c.1054T>A (p.Trp352Arg)
3g.133766382T>CCA354608732TFc.1435T>C (p.Trp479Arg)
c.105T>C
c.1303T>C (p.Trp435Arg)
c.1054T>C (p.Trp352Arg)
3g.133766382T>GCA354608733TFc.1435T>G (p.Trp479Gly)
c.105T>G
c.1303T>G (p.Trp435Gly)
c.1054T>G (p.Trp352Gly)
 gnomAD v4
3g.133766383G>ACA2625300TFc.1436G>A (p.Trp479Ter)
c.106G>A
c.1304G>A (p.Trp435Ter)
c.1055G>A (p.Trp352Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766383G>CCA354608734TFc.1436G>C (p.Trp479Ser)
c.106G>C
c.1304G>C (p.Trp435Ser)
c.1055G>C (p.Trp352Ser)
3g.133766383G=CA1403119449TFc.1436G= (p.Trp479=)
c.106G=
c.1304G= (p.Trp435=)
c.1055G= (p.Trp352=)
3g.133766383G>TCA354608735TFc.1436G>T (p.Trp479Leu)
c.106G>T
c.1304G>T (p.Trp435Leu)
c.1055G>T (p.Trp352Leu)
3g.133766384G>ACA354608736TFc.1437G>A (p.Trp479Ter)
c.107G>A
c.1305G>A (p.Trp435Ter)
c.1056G>A (p.Trp352Ter)
3g.133766384G>CCA354608737TFc.1437G>C (p.Trp479Cys)
c.107G>C
c.1305G>C (p.Trp435Cys)
c.1056G>C (p.Trp352Cys)
3g.133766384G>TCA354608738TFc.1437G>T (p.Trp479Cys)
c.107G>T
c.1305G>T (p.Trp435Cys)
c.1056G>T (p.Trp352Cys)
3g.133766385A>CCA354608739TFc.1438A>C (p.Asn480His)
c.108A>C
c.1306A>C (p.Asn436His)
c.1057A>C (p.Asn353His)
3g.133766385A>GCA354608741TFc.1438A>G (p.Asn480Asp)
c.108A>G
c.1306A>G (p.Asn436Asp)
c.1057A>G (p.Asn353Asp)
3g.133766385A>TCA354608740TFc.1438A>T (p.Asn480Tyr)
c.108A>T
c.1306A>T (p.Asn436Tyr)
c.1057A>T (p.Asn353Tyr)
3g.133766386A>CCA354608742TFc.1439A>C (p.Asn480Thr)
c.109A>C
c.1307A>C (p.Asn436Thr)
c.1058A>C (p.Asn353Thr)
3g.133766386A>GCA354608743TFc.1439A>G (p.Asn480Ser)
c.109A>G
c.1307A>G (p.Asn436Ser)
c.1058A>G (p.Asn353Ser)
3g.133766386A>TCA354608744TFc.1439A>T (p.Asn480Ile)
c.109A>T
c.1307A>T (p.Asn436Ile)
c.1058A>T (p.Asn353Ile)
3g.133766387C>ACA354608745TFc.1440C>A (p.Asn480Lys)
c.110C>A
c.1308C>A (p.Asn436Lys)
c.1059C>A (p.Asn353Lys)
3g.133766387C=CA1403119453TFc.1440C= (p.Asn480=)
c.110C=
c.1308C= (p.Asn436=)
c.1059C= (p.Asn353=)
3g.133766387C>GCA354608746TFc.1440C>G (p.Asn480Lys)
c.110C>G
c.1308C>G (p.Asn436Lys)
c.1059C>G (p.Asn353Lys)
3g.133766387C>TCA435815649TFc.1440C>T (p.Asn480=)
c.110C>T
c.1308C>T (p.Asn436=)
c.1059C>T (p.Asn353=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.133766388A>CCA354608747TFc.1441A>C (p.Ile481Leu)
c.111A>C
c.1309A>C (p.Ile437Leu)
c.1060A>C (p.Ile354Leu)
3g.133766388A>GCA354608748TFc.1441A>G (p.Ile481Val)
c.111A>G
c.1309A>G (p.Ile437Val)
c.1060A>G (p.Ile354Val)
3g.133766388A>TCA354608749TFc.1441A>T (p.Ile481Phe)
c.111A>T
c.1309A>T (p.Ile437Phe)
c.1060A>T (p.Ile354Phe)
3g.133766389T>ACA354608750TFc.1442T>A (p.Ile481Asn)
c.112T>A
c.1310T>A (p.Ile437Asn)
c.1061T>A (p.Ile354Asn)
3g.133766389T>CCA354608751TFc.1442T>C (p.Ile481Thr)
c.112T>C
c.1310T>C (p.Ile437Thr)
c.1061T>C (p.Ile354Thr)
3g.133766389T>GCA354608752TFc.1442T>G (p.Ile481Ser)
c.112T>G
c.1310T>G (p.Ile437Ser)
c.1061T>G (p.Ile354Ser)
3g.133766389_133766390delinsTCCA1403119458TFc.1442_1443delinsTC (p.Ile481=)
c.112_113delinsTC
c.1310_1311delinsTC (p.Ile437=)
c.1061_1062delinsTC (p.Ile354=)
3g.133766390C>ACA435815651TFc.1443C>A (p.Ile481=)
c.113C>A
c.1311C>A (p.Ile437=)
c.1062C>A (p.Ile354=)
3g.133766390C=CA1403119463TFc.1443C= (p.Ile481=)
c.113C=
c.1311C= (p.Ile437=)
c.1062C= (p.Ile354=)
3g.133766390C>GCA2625302TFc.1443C>G (p.Ile481Met)
c.113C>G
c.1311C>G (p.Ile437Met)
c.1062C>G (p.Ile354Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766390C>TCA435815650TFc.1443C>T (p.Ile481=)
c.113C>T
c.1311C>T (p.Ile437=)
c.1062C>T (p.Ile354=)
3g.133766393delCA2625301TFc.1446del (p.Met483TrpfsTer?)
c.116del
c.1314del (p.Met439TrpfsTer?)
c.1065del (p.Met356TrpfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766391C>ACA354608753TFc.1444C>A (p.Pro482Thr)
c.114C>A
c.1312C>A (p.Pro438Thr)
c.1063C>A (p.Pro355Thr)
 COSMIC
3g.133766391C>GCA354608755TFc.1444C>G (p.Pro482Ala)
c.114C>G
c.1312C>G (p.Pro438Ala)
c.1063C>G (p.Pro355Ala)
3g.133766391C>TCA354608754TFc.1444C>T (p.Pro482Ser)
c.114C>T
c.1312C>T (p.Pro438Ser)
c.1063C>T (p.Pro355Ser)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.133766392C>ACA354608756TFc.1445C>A (p.Pro482His)
c.115C>A
c.1313C>A (p.Pro438His)
c.1064C>A (p.Pro355His)
3g.133766392C>GCA354608757TFc.1445C>G (p.Pro482Arg)
c.115C>G
c.1313C>G (p.Pro438Arg)
c.1064C>G (p.Pro355Arg)
3g.133766392C>TCA354608758TFc.1445C>T (p.Pro482Leu)
c.115C>T
c.1313C>T (p.Pro438Leu)
c.1064C>T (p.Pro355Leu)
 gnomAD v4
3g.133766393C>ACA435815652TFc.1446C>A (p.Pro482=)
c.116C>A
c.1314C>A (p.Pro438=)
c.1065C>A (p.Pro355=)
3g.133766393C=CA1403119469TFc.1446C= (p.Pro482=)
c.116C=
c.1314C= (p.Pro438=)
c.1065C= (p.Pro355=)
3g.133766393C>GCA435815653TFc.1446C>G (p.Pro482=)
c.116C>G
c.1314C>G (p.Pro438=)
c.1065C>G (p.Pro355=)
3g.133766393C>TCA2625303TFc.1446C>T (p.Pro482=)
c.116C>T
c.1314C>T (p.Pro438=)
c.1065C>T (p.Pro355=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766394A>CCA354608759TFc.1447A>C (p.Met483Leu)
c.117A>C
c.1315A>C (p.Met439Leu)
c.1066A>C (p.Met356Leu)
3g.133766394A>GCA354608760TFc.1447A>G (p.Met483Val)
c.117A>G
c.1315A>G (p.Met439Val)
c.1066A>G (p.Met356Val)
 gnomAD v4
3g.133766394A>TCA354608761TFc.1447A>T (p.Met483Leu)
c.117A>T
c.1315A>T (p.Met439Leu)
c.1066A>T (p.Met356Leu)
3g.133766395T>ACA354608762TFc.1448T>A (p.Met483Lys)
c.118T>A
c.1316T>A (p.Met439Lys)
c.1067T>A (p.Met356Lys)
3g.133766395T>CCA2625304TFc.1448T>C (p.Met483Thr)
c.118T>C
c.1316T>C (p.Met439Thr)
c.1067T>C (p.Met356Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766395T>GCA354608763TFc.1448T>G (p.Met483Arg)
c.118T>G
c.1316T>G (p.Met439Arg)
c.1067T>G (p.Met356Arg)
3g.133766395T=CA1403119475TFc.1448T= (p.Met483=)
c.118T=
c.1316T= (p.Met439=)
c.1067T= (p.Met356=)
3g.133766396G>ACA354608765TFc.1449G>A (p.Met483Ile)
c.119G>A
c.1317G>A (p.Met439Ile)
c.1068G>A (p.Met356Ile)
 COSMIC
3g.133766396G>CCA354608766TFc.1449G>C (p.Met483Ile)
c.119G>C
c.1317G>C (p.Met439Ile)
c.1068G>C (p.Met356Ile)
3g.133766396G>TCA354608764TFc.1449G>T (p.Met483Ile)
c.119G>T
c.1317G>T (p.Met439Ile)
c.1068G>T (p.Met356Ile)
 gnomAD v4
3g.133766397G>ACA354608768TFc.1450G>A (p.Gly484Ser)
c.120G>A
c.1318G>A (p.Gly440Ser)
c.1069G>A (p.Gly357Ser)
 gnomAD v4
3g.133766397G>CCA354608767TFc.1450G>C (p.Gly484Arg)
c.120G>C
c.1318G>C (p.Gly440Arg)
c.1069G>C (p.Gly357Arg)
3g.133766397G>TCA354608769TFc.1450G>T (p.Gly484Cys)
c.120G>T
c.1318G>T (p.Gly440Cys)
c.1069G>T (p.Gly357Cys)
3g.133766398G>ACA354608770TFc.1451G>A (p.Gly484Asp)
c.121G>A
c.1319G>A (p.Gly440Asp)
c.1070G>A (p.Gly357Asp)
 COSMIC
3g.133766398G>CCA354608772TFc.1451G>C (p.Gly484Ala)
c.121G>C
c.1319G>C (p.Gly440Ala)
c.1070G>C (p.Gly357Ala)
 gnomAD v4
3g.133766398G>TCA354608771TFc.1451G>T (p.Gly484Val)
c.121G>T
c.1319G>T (p.Gly440Val)
c.1070G>T (p.Gly357Val)
3g.133766399C>ACA435815654TFc.1452C>A (p.Gly484=)
c.122C>A
c.1320C>A (p.Gly440=)
c.1071C>A (p.Gly357=)
3g.133766399C>GCA435815655TFc.1452C>G (p.Gly484=)
c.122C>G
c.1320C>G (p.Gly440=)
c.1071C>G (p.Gly357=)
3g.133766399C>TCA435815656TFc.1452C>T (p.Gly484=)
c.122C>T
c.1320C>T (p.Gly440=)
c.1071C>T (p.Gly357=)
3g.133766400C>ACA354608773TFc.1453C>A (p.Leu485Met)
c.123C>A
c.1321C>A (p.Leu441Met)
c.1072C>A (p.Leu358Met)
3g.133766400C>GCA354608774TFc.1453C>G (p.Leu485Val)
c.123C>G
c.1321C>G (p.Leu441Val)
c.1072C>G (p.Leu358Val)
 gnomAD v4
3g.133766400C>TCA435815657TFc.1453C>T (p.Leu485=)
c.123C>T
c.1321C>T (p.Leu441=)
c.1072C>T (p.Leu358=)
 gnomAD v4
3g.133766401T>ACA354608775TFc.1454T>A (p.Leu485Gln)
c.124T>A
c.1322T>A (p.Leu441Gln)
c.1073T>A (p.Leu358Gln)
3g.133766401T>CCA354608776TFc.1454T>C (p.Leu485Pro)
c.124T>C
c.1322T>C (p.Leu441Pro)
c.1073T>C (p.Leu358Pro)
 dbSNP gnomAD v2 gnomAD v4
3g.133766401T>GCA354608777TFc.1454T>G (p.Leu485Arg)
c.124T>G
c.1322T>G (p.Leu441Arg)
c.1073T>G (p.Leu358Arg)
3g.133766401T=CA1403119478TFc.1454T= (p.Leu485=)
c.124T=
c.1322T= (p.Leu441=)
c.1073T= (p.Leu358=)
3g.133766402G>ACA435815658TFc.1455G>A (p.Leu485=)
c.125G>A
c.1323G>A (p.Leu441=)
c.1074G>A (p.Leu358=)
 ClinVar gnomAD v4
3g.133766402G>CCA435815659TFc.1455G>C (p.Leu485=)
c.125G>C
c.1323G>C (p.Leu441=)
c.1074G>C (p.Leu358=)
3g.133766402G=CA1403119479TFc.1455G= (p.Leu485=)
c.125G=
c.1323G= (p.Leu441=)
c.1074G= (p.Leu358=)
3g.133766402G>TCA2625305TFc.1455G>T (p.Leu485=)
c.125G>T
c.1323G>T (p.Leu441=)
c.1074G>T (p.Leu358=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766403C>ACA354608778TFc.1456C>A (p.Leu486Ile)
c.126C>A
c.1324C>A (p.Leu442Ile)
c.1075C>A (p.Leu359Ile)
 dbSNP
3g.133766403C=CA1403119483TFc.1456C= (p.Leu486=)
c.126C=
c.1324C= (p.Leu442=)
c.1075C= (p.Leu359=)
3g.133766403C>GCA2625306TFc.1456C>G (p.Leu486Val)
c.126C>G
c.1324C>G (p.Leu442Val)
c.1075C>G (p.Leu359Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766403C>TCA354608779TFc.1456C>T (p.Leu486Phe)
c.126C>T
c.1324C>T (p.Leu442Phe)
c.1075C>T (p.Leu359Phe)
 dbSNP gnomAD v3 gnomAD v4
3g.133766404T>ACA354608780TFc.1457T>A (p.Leu486His)
c.127T>A
c.1325T>A (p.Leu442His)
c.1076T>A (p.Leu359His)
3g.133766404T>CCA354608781TFc.1457T>C (p.Leu486Pro)
c.127T>C
c.1325T>C (p.Leu442Pro)
c.1076T>C (p.Leu359Pro)
3g.133766404T>GCA354608782TFc.1457T>G (p.Leu486Arg)
c.127T>G
c.1325T>G (p.Leu442Arg)
c.1076T>G (p.Leu359Arg)
3g.133766405C>ACA435815660TFc.1458C>A (p.Leu486=)
c.128C>A
c.1326C>A (p.Leu442=)
c.1077C>A (p.Leu359=)
3g.133766405C=CA1403119489TFc.1458C= (p.Leu486=)
c.128C=
c.1326C= (p.Leu442=)
c.1077C= (p.Leu359=)
3g.133766405C>GCA435815661TFc.1458C>G (p.Leu486=)
c.128C>G
c.1326C>G (p.Leu442=)
c.1077C>G (p.Leu359=)
 dbSNP gnomAD v2 gnomAD v4
3g.133766405C>TCA435815662TFc.1458C>T (p.Leu486=)
c.128C>T
c.1326C>T (p.Leu442=)
c.1077C>T (p.Leu359=)
3g.133766406T>ACA354608783TFc.1459T>A (p.Tyr487Asn)
c.129T>A
c.1327T>A (p.Tyr443Asn)
c.1078T>A (p.Tyr360Asn)
3g.133766406T>CCA354608785TFc.1459T>C (p.Tyr487His)
c.129T>C
c.1327T>C (p.Tyr443His)
c.1078T>C (p.Tyr360His)
 gnomAD v4
3g.133766406T>GCA354608784TFc.1459T>G (p.Tyr487Asp)
c.129T>G
c.1327T>G (p.Tyr443Asp)
c.1078T>G (p.Tyr360Asp)
3g.133766407A=CA1403119492TFc.1460A= (p.Tyr487=)
c.130A=
c.1328A= (p.Tyr443=)
c.1079A= (p.Tyr360=)
3g.133766407A>CCA354608786TFc.1460A>C (p.Tyr487Ser)
c.130A>C
c.1328A>C (p.Tyr443Ser)
c.1079A>C (p.Tyr360Ser)
3g.133766407A>GCA354608787TFc.1460A>G (p.Tyr487Cys)
c.130A>G
c.1328A>G (p.Tyr443Cys)
c.1079A>G (p.Tyr360Cys)
 dbSNP gnomAD v4
3g.133766407A>TCA354608788TFc.1460A>T (p.Tyr487Phe)
c.130A>T
c.1328A>T (p.Tyr443Phe)
c.1079A>T (p.Tyr360Phe)
3g.133766408C>ACA354608789TFc.1461C>A (p.Tyr487Ter)
c.131C>A
c.1329C>A (p.Tyr443Ter)
c.1080C>A (p.Tyr360Ter)
3g.133766408C>GCA354608790TFc.1461C>G (p.Tyr487Ter)
c.131C>G
c.1329C>G (p.Tyr443Ter)
c.1080C>G (p.Tyr360Ter)
3g.133766408C>TCA435815663TFc.1461C>T (p.Tyr487=)
c.131C>T
c.1329C>T (p.Tyr443=)
c.1080C>T (p.Tyr360=)
 gnomAD v4
3g.133766408_133766411delinsCAATCA1403119499TFc.1461_1464delinsCAAT (p.Tyr487=)
c.131_134delinsCAAT
c.1329_1332delinsCAAT (p.Tyr443=)
c.1080_1083delinsCAAT (p.Tyr360=)
3g.133766409A>CCA354608791TFc.1462A>C (p.Asn488His)
c.132A>C
c.1330A>C (p.Asn444His)
c.1081A>C (p.Asn361His)
 gnomAD v4
3g.133766409A>GCA354608792TFc.1462A>G (p.Asn488Asp)
c.132A>G
c.1330A>G (p.Asn444Asp)
c.1081A>G (p.Asn361Asp)
3g.133766409A>TCA354608793TFc.1462A>T (p.Asn488Tyr)
c.132A>T
c.1330A>T (p.Asn444Tyr)
c.1081A>T (p.Asn361Tyr)
3g.133766411_133766413delCA2625307TFc.1464_1466del (p.Asn488del)
c.134_136del
c.1332_1334del (p.Asn444del)
c.1083_1085del (p.Asn361del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766410A=CA1403119511TFc.1463A= (p.Asn488=)
c.133A=
c.1331A= (p.Asn444=)
c.1082A= (p.Asn361=)
3g.133766410A>CCA354608795TFc.1463A>C (p.Asn488Thr)
c.133A>C
c.1331A>C (p.Asn444Thr)
c.1082A>C (p.Asn361Thr)
3g.133766410A>GCA83685630TFc.1463A>G (p.Asn488Ser)
c.133A>G
c.1331A>G (p.Asn444Ser)
c.1082A>G (p.Asn361Ser)
 dbSNP gnomAD v4
3g.133766410A>TCA354608794TFc.1463A>T (p.Asn488Ile)
c.133A>T
c.1331A>T (p.Asn444Ile)
c.1082A>T (p.Asn361Ile)
3g.133766411T>ACA354608796TFc.1464T>A (p.Asn488Lys)
c.134T>A
c.1332T>A (p.Asn444Lys)
c.1083T>A (p.Asn361Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133766411T>CCA435815664TFc.1464T>C (p.Asn488=)
c.134T>C
c.1332T>C (p.Asn444=)
c.1083T>C (p.Asn361=)
3g.133766411T>GCA354608797TFc.1464T>G (p.Asn488Lys)
c.134T>G
c.1332T>G (p.Asn444Lys)
c.1083T>G (p.Asn361Lys)
3g.133766411T=CA1403119517TFc.1464T= (p.Asn488=)
c.134T=
c.1332T= (p.Asn444=)
c.1083T= (p.Asn361=)
3g.133766412A>CCA354608798TFc.1465A>C (p.Lys489Gln)
c.135A>C
c.1333A>C (p.Lys445Gln)
c.1084A>C (p.Lys362Gln)
3g.133766412A>GCA354608799TFc.1465A>G (p.Lys489Glu)
c.135A>G
c.1333A>G (p.Lys445Glu)
c.1084A>G (p.Lys362Glu)
 COSMIC
3g.133766412A>TCA354608800TFc.1465A>T (p.Lys489Ter)
c.135A>T
c.1333A>T (p.Lys445Ter)
c.1084A>T (p.Lys362Ter)
3g.133766413A>CCA354608803TFc.1466A>C (p.Lys489Thr)
c.136A>C
c.1334A>C (p.Lys445Thr)
c.1085A>C (p.Lys362Thr)
3g.133766413A>GCA354608801TFc.1466A>G (p.Lys489Arg)
c.136A>G
c.1334A>G (p.Lys445Arg)
c.1085A>G (p.Lys362Arg)
3g.133766413A>TCA354608802TFc.1466A>T (p.Lys489Met)
c.136A>T
c.1334A>T (p.Lys445Met)
c.1085A>T (p.Lys362Met)
3g.133766414G>ACA83685635TFc.1467G>A (p.Lys489=)
c.137G>A
c.1335G>A (p.Lys445=)
c.1086G>A (p.Lys362=)
 dbSNP gnomAD v4
3g.133766414G>CCA354608804TFc.1467G>C (p.Lys489Asn)
c.137G>C
c.1335G>C (p.Lys445Asn)
c.1086G>C (p.Lys362Asn)
3g.133766414G=CA1403119519TFc.1467G= (p.Lys489=)
c.137G=
c.1335G= (p.Lys445=)
c.1086G= (p.Lys362=)
3g.133766414G>TCA354608805TFc.1467G>T (p.Lys489Asn)
c.137G>T
c.1335G>T (p.Lys445Asn)
c.1086G>T (p.Lys362Asn)
3g.133766415A>CCA354608806TFc.1468A>C (p.Ile490Leu)
c.138A>C
c.1336A>C (p.Ile446Leu)
c.1087A>C (p.Ile363Leu)
3g.133766415A>GCA354608807TFc.1468A>G (p.Ile490Val)
c.138A>G
c.1336A>G (p.Ile446Val)
c.1087A>G (p.Ile363Val)
3g.133766415A>TCA354608808TFc.1468A>T (p.Ile490Phe)
c.138A>T
c.1336A>T (p.Ile446Phe)
c.1087A>T (p.Ile363Phe)
3g.133766416T>ACA354608809TFc.1469T>A (p.Ile490Asn)
c.139T>A
c.1337T>A (p.Ile446Asn)
c.1088T>A (p.Ile363Asn)
3g.133766416T>CCA354608811TFc.1469T>C (p.Ile490Thr)
c.139T>C
c.1337T>C (p.Ile446Thr)
c.1088T>C (p.Ile363Thr)
3g.133766416T>GCA354608810TFc.1469T>G (p.Ile490Ser)
c.139T>G
c.1337T>G (p.Ile446Ser)
c.1088T>G (p.Ile363Ser)
3g.133766417C>ACA435815665TFc.1470C>A (p.Ile490=)
c.140C>A
c.1338C>A (p.Ile446=)
c.1089C>A (p.Ile363=)
3g.133766417C>GCA354608812TFc.1470C>G (p.Ile490Met)
c.140C>G
c.1338C>G (p.Ile446Met)
c.1089C>G (p.Ile363Met)
3g.133766417C>TCA435815666TFc.1470C>T (p.Ile490=)
c.140C>T
c.1338C>T (p.Ile446=)
c.1089C>T (p.Ile363=)
3g.133766418A>CCA354608813TFc.1471A>C (p.Asn491His)
c.141A>C
c.1339A>C (p.Asn447His)
c.1090A>C (p.Asn364His)
3g.133766418A>GCA354608814TFc.1471A>G (p.Asn491Asp)
c.141A>G
c.1339A>G (p.Asn447Asp)
c.1090A>G (p.Asn364Asp)
3g.133766418A>TCA354608815TFc.1471A>T (p.Asn491Tyr)
c.141A>T
c.1339A>T (p.Asn447Tyr)
c.1090A>T (p.Asn364Tyr)
3g.133766419A>CCA354608816TFc.1472A>C (p.Asn491Thr)
c.142A>C
c.1340A>C (p.Asn447Thr)
c.1091A>C (p.Asn364Thr)
3g.133766419A>GCA354608817TFc.1472A>G (p.Asn491Ser)
c.142A>G
c.1340A>G (p.Asn447Ser)
c.1091A>G (p.Asn364Ser)
3g.133766419A>TCA354608818TFc.1472A>T (p.Asn491Ile)
c.142A>T
c.1340A>T (p.Asn447Ile)
c.1091A>T (p.Asn364Ile)
3g.133766420C>ACA354608819TFc.1473C>A (p.Asn491Lys)
c.143C>A
c.1341C>A (p.Asn447Lys)
c.1092C>A (p.Asn364Lys)
3g.133766420C=CA1403119520TFc.1473C= (p.Asn491=)
c.143C=
c.1341C= (p.Asn447=)
c.1092C= (p.Asn364=)
3g.133766420C>GCA354608820TFc.1473C>G (p.Asn491Lys)
c.143C>G
c.1341C>G (p.Asn447Lys)
c.1092C>G (p.Asn364Lys)
3g.133766420C>TCA435815667TFc.1473C>T (p.Asn491=)
c.143C>T
c.1341C>T (p.Asn447=)
c.1092C>T (p.Asn364=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.133766421C>ACA354608821TFc.1474C>A (p.His492Asn)
c.144C>A
c.1342C>A (p.His448Asn)
c.1093C>A (p.His365Asn)
3g.133766421C>GCA354608822TFc.1474C>G (p.His492Asp)
c.144C>G
c.1342C>G (p.His448Asp)
c.1093C>G (p.His365Asp)
3g.133766421C>TCA354608823TFc.1474C>T (p.His492Tyr)
c.144C>T
c.1342C>T (p.His448Tyr)
c.1093C>T (p.His365Tyr)
 gnomAD v4
3g.133766422A>CCA354608825TFc.1475A>C (p.His492Pro)
c.145A>C
c.1343A>C (p.His448Pro)
c.1094A>C (p.His365Pro)
3g.133766422A>GCA354608826TFc.1475A>G (p.His492Arg)
c.145A>G
c.1343A>G (p.His448Arg)
c.1094A>G (p.His365Arg)
3g.133766422A>TCA354608824TFc.1475A>T (p.His492Leu)
c.145A>T
c.1343A>T (p.His448Leu)
c.1094A>T (p.His365Leu)
3g.133766423C>ACA354608828TFc.1476C>A (p.His492Gln)
c.146C>A
c.1344C>A (p.His448Gln)
c.1095C>A (p.His365Gln)
3g.133766423C=CA1403119521TFc.1476C= (p.His492=)
c.146C=
c.1344C= (p.His448=)
c.1095C= (p.His365=)
3g.133766423C>GCA354608827TFc.1476C>G (p.His492Gln)
c.146C>G
c.1344C>G (p.His448Gln)
c.1095C>G (p.His365Gln)
3g.133766423C>TCA2625308TFc.1476C>T (p.His492=)
c.146C>T
c.1344C>T (p.His448=)
c.1095C>T (p.His365=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766424T>ACA354608829TFc.1477T>A (p.Cys493Ser)
c.147T>A
c.1345T>A (p.Cys449Ser)
c.1096T>A (p.Cys366Ser)
3g.133766424T>CCA354608830TFc.1477T>C (p.Cys493Arg)
c.147T>C
c.1345T>C (p.Cys449Arg)
c.1096T>C (p.Cys366Arg)
3g.133766424T>GCA354608831TFc.1477T>G (p.Cys493Gly)
c.147T>G
c.1345T>G (p.Cys449Gly)
c.1096T>G (p.Cys366Gly)
3g.133766425G>ACA354608832TFc.1478G>A (p.Cys493Tyr)
c.148G>A
c.1346G>A (p.Cys449Tyr)
c.1097G>A (p.Cys366Tyr)
3g.133766425G>CCA354608833TFc.1478G>C (p.Cys493Ser)
c.148G>C
c.1346G>C (p.Cys449Ser)
c.1097G>C (p.Cys366Ser)
3g.133766425G>TCA354608834TFc.1478G>T (p.Cys493Phe)
c.148G>T
c.1346G>T (p.Cys449Phe)
c.1097G>T (p.Cys366Phe)
3g.133766426C>ACA354608835TFc.1479C>A (p.Cys493Ter)
c.149C>A
c.1347C>A (p.Cys449Ter)
c.1098C>A (p.Cys366Ter)
3g.133766426C>GCA354608836TFc.1479C>G (p.Cys493Trp)
c.149C>G
c.1347C>G (p.Cys449Trp)
c.1098C>G (p.Cys366Trp)
3g.133766426C>TCA435815668TFc.1479C>T (p.Cys493=)
c.149C>T
c.1347C>T (p.Cys449=)
c.1098C>T (p.Cys366=)
3g.133766427A=CA1403119522TFc.1480A= (p.Arg494=)
c.150A=
c.1348A= (p.Arg450=)
c.1099A= (p.Arg367=)
3g.133766427A>CCA435815669TFc.1480A>C (p.Arg494=)
c.150A>C
c.1348A>C (p.Arg450=)
c.1099A>C (p.Arg367=)
 dbSNP
3g.133766427A>GCA354608837TFc.1480A>G (p.Arg494Gly)
c.150A>G
c.1348A>G (p.Arg450Gly)
c.1099A>G (p.Arg367Gly)
3g.133766427A>TCA354608838TFc.1480A>T (p.Arg494Ter)
c.150A>T
c.1348A>T (p.Arg450Ter)
c.1099A>T (p.Arg367Ter)
3g.133766428G>ACA354608839TFc.1481G>A (p.Arg494Lys)
c.151G>A
c.1349G>A (p.Arg450Lys)
c.1100G>A (p.Arg367Lys)
3g.133766428G>CCA354608840TFc.1481G>C (p.Arg494Thr)
c.151G>C
c.1349G>C (p.Arg450Thr)
c.1100G>C (p.Arg367Thr)
3g.133766428G=CA1403119523TFc.1481G= (p.Arg494=)
c.151G=
c.1349G= (p.Arg450=)
c.1100G= (p.Arg367=)
3g.133766428G>TCA83685652TFc.1481G>T (p.Arg494Ile)
c.151G>T
c.1349G>T (p.Arg450Ile)
c.1100G>T (p.Arg367Ile)
 dbSNP
3g.133766429A>CCA354608841TFc.1482A>C (p.Arg494Ser)
c.152A>C
c.1350A>C (p.Arg450Ser)
c.1101A>C (p.Arg367Ser)
3g.133766429A>GCA435815670TFc.1482A>G (p.Arg494=)
c.152A>G
c.1350A>G (p.Arg450=)
c.1101A>G (p.Arg367=)
3g.133766429A>TCA354608842TFc.1482A>T (p.Arg494Ser)
c.152A>T
c.1350A>T (p.Arg450Ser)
c.1101A>T (p.Arg367Ser)
3g.133766430T>ACA354608843TFc.1483T>A (p.Phe495Ile)
c.153T>A
c.1351T>A (p.Phe451Ile)
c.1102T>A (p.Phe368Ile)
3g.133766430T>CCA354608844TFc.1483T>C (p.Phe495Leu)
c.153T>C
c.1351T>C (p.Phe451Leu)
c.1102T>C (p.Phe368Leu)
 gnomAD v4
3g.133766430T>GCA354608845TFc.1483T>G (p.Phe495Val)
c.153T>G
c.1351T>G (p.Phe451Val)
c.1102T>G (p.Phe368Val)
3g.133766431T>ACA354608847TFc.1484T>A (p.Phe495Tyr)
c.154T>A
c.1352T>A (p.Phe451Tyr)
c.1103T>A (p.Phe368Tyr)
3g.133766431T>CCA354608846TFc.1484T>C (p.Phe495Ser)
c.154T>C
c.1352T>C (p.Phe451Ser)
c.1103T>C (p.Phe368Ser)
 gnomAD v4
3g.133766431T>GCA2625309TFc.1484T>G (p.Phe495Cys)
c.154T>G
c.1352T>G (p.Phe451Cys)
c.1103T>G (p.Phe368Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133766431T=CA1403119527TFc.1484T= (p.Phe495=)
c.154T=
c.1352T= (p.Phe451=)
c.1103T= (p.Phe368=)
3g.133766432T>ACA354608848TFc.1485T>A (p.Phe495Leu)
c.155T>A
c.1353T>A (p.Phe451Leu)
c.1104T>A (p.Phe368Leu)
3g.133766432T>CCA435815671TFc.1485T>C (p.Phe495=)
c.155T>C
c.1353T>C (p.Phe451=)
c.1104T>C (p.Phe368=)
3g.133766432T>GCA354608849TFc.1485T>G (p.Phe495Leu)
c.155T>G
c.1353T>G (p.Phe451Leu)
c.1104T>G (p.Phe368Leu)
3g.133766433G>ACA354608850TFc.1486G>A (p.Asp496Asn)
c.156G>A
c.1354G>A (p.Asp452Asn)
c.1105G>A (p.Asp369Asn)
3g.133766433G>CCA354608851TFc.1486G>C (p.Asp496His)
c.156G>C
c.1354G>C (p.Asp452His)
c.1105G>C (p.Asp369His)
3g.133766433G>TCA354608852TFc.1486G>T (p.Asp496Tyr)
c.156G>T
c.1354G>T (p.Asp452Tyr)
c.1105G>T (p.Asp369Tyr)
3g.133766434G>ACA354608855TFc.1486+1G>A (n.1486+1G>A)
c.156+1G>A
c.1354+1G>A (n.1354+1G>A)
c.1105+1G>A (n.1105+1G>A)
3g.133766434G>CCA354608854TFc.1486+1G>C (n.1486+1G>C)
c.156+1G>C
c.1354+1G>C (n.1354+1G>C)
c.1105+1G>C (n.1105+1G>C)
3g.133766434G=CA1403119530TFc.1486+1G= (n.1486+1G=)
c.156+1G=
c.1354+1G= (n.1354+1G=)
c.1105+1G= (n.1105+1G=)
3g.133766434G>TCA354608853TFc.1486+1G>T (n.1486+1G>T)
c.156+1G>T
c.1354+1G>T (n.1354+1G>T)
c.1105+1G>T (n.1105+1G>T)
 dbSNP gnomAD v3 gnomAD v4
3g.133766435T>ACA354608856TFc.1486+2T>A (n.1486+2T>A)
c.156+2T>A
c.1354+2T>A (n.1354+2T>A)
c.1105+2T>A (n.1105+2T>A)
3g.133766435T>CCA354608858TFc.1486+2T>C (n.1486+2T>C)
c.156+2T>C
c.1354+2T>C (n.1354+2T>C)
c.1105+2T>C (n.1105+2T>C)
 gnomAD v4
3g.133766435T>GCA354608857TFc.1486+2T>G (n.1486+2T>G)
c.156+2T>G
c.1354+2T>G (n.1354+2T>G)
c.1105+2T>G (n.1105+2T>G)
3g.133766436G>ACA2667768561TFc.1486+3G>A (n.1486+3G>A)
c.156+3G>A
c.1354+3G>A (n.1354+3G>A)
c.1105+3G>A (n.1105+3G>A)
 gnomAD v4
3g.133766436G>CCA2667768563TFc.1486+3G>C (n.1486+3G>C)
c.156+3G>C
c.1354+3G>C (n.1354+3G>C)
c.1105+3G>C (n.1105+3G>C)
 gnomAD v4
3g.133766437A=CA1403119533TFc.1486+4A= (n.1486+4A=)
c.156+4A=
c.1354+4A= (n.1354+4A=)
c.1105+4A= (n.1105+4A=)
3g.133766437A>CCA2625310TFc.1486+4A>C (n.1486+4A>C)
c.156+4A>C
c.1354+4A>C (n.1354+4A>C)
c.1105+4A>C (n.1105+4A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133766438G>ACA546290763TFc.1486+5G>A (n.1486+5G>A)
c.156+5G>A
c.1354+5G>A (n.1354+5G>A)
c.1105+5G>A (n.1105+5G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133766438G=CA1403119535TFc.1486+5G= (n.1486+5G=)
c.156+5G=
c.1354+5G= (n.1354+5G=)
c.1105+5G= (n.1105+5G=)
3g.133766440G>ACA546290764TFc.1486+7G>A (n.1486+7G>A)
c.156+7G>A
c.1354+7G>A (n.1354+7G>A)
c.1105+7G>A (n.1105+7G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.133766440G=CA1403119536TFc.1486+7G= (n.1486+7G=)
c.156+7G=
c.1354+7G= (n.1354+7G=)
c.1105+7G= (n.1105+7G=)
3g.133766441A=CA1403119538TFc.1486+8A= (n.1486+8A=)
c.156+8A=
c.1354+8A= (n.1354+8A=)
c.1105+8A= (n.1105+8A=)
3g.133766442A=CA1403119540TFc.1486+9A= (n.1486+9A=)
c.156+9A=
c.1354+9A= (n.1354+9A=)
c.1105+9A= (n.1105+9A=)
3g.133766442A>TCA546290765TFc.1486+9A>T (n.1486+9A>T)
c.156+9A>T
c.1354+9A>T (n.1354+9A>T)
c.1105+9A>T (n.1105+9A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133766444_133766445dupCA2625311TFc.1486+11_1486+12dup (n.1486+11_1486+12dup)
c.156+11_156+12dup
c.1354+11_1354+12dup (n.1354+11_1354+12dup)
c.1105+11_1105+12dup (n.1105+11_1105+12dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766444A>GCA2577907328TFc.1486+11A>G (n.1486+11A>G)
c.156+11A>G
c.1354+11A>G (n.1354+11A>G)
c.1105+11A>G (n.1105+11A>G)
 gnomAD v4
3g.133766447G>CCA2758478542TFc.1486+14G>C (n.1486+14G>C)
c.156+14G>C
c.1354+14G>C (n.1354+14G>C)
c.1105+14G>C (n.1105+14G>C)
3g.133766449delCA2577907329TFc.1486+16del (n.1486+16del)
c.156+16del
c.1354+16del (n.1354+16del)
c.1105+16del (n.1105+16del)
3g.133766449G=CA1403119543TFc.1486+16G= (n.1486+16G=)
c.156+16G=
c.1354+16G= (n.1354+16G=)
c.1105+16G= (n.1105+16G=)
3g.133766449G>TCA1403119544TFc.1486+16G>T (n.1486+16G>T)
c.156+16G>T
c.1354+16G>T (n.1354+16G>T)
c.1105+16G>T (n.1105+16G>T)
 ClinVar dbSNP
3g.133766452G>ACA2667768578TFc.1486+19G>A (n.1486+19G>A)
c.156+19G>A
c.1354+19G>A (n.1354+19G>A)
c.1105+19G>A (n.1105+19G>A)
 gnomAD v4
3g.133766453G>CCA2667768580TFc.1486+20G>C (n.1486+20G>C)
c.156+20G>C
c.1354+20G>C (n.1354+20G>C)
c.1105+20G>C (n.1105+20G>C)
 gnomAD v4
3g.133766454A=CA1403119545TFc.1486+21A= (n.1486+21A=)
c.156+21A=
c.1354+21A= (n.1354+21A=)
c.1105+21A= (n.1105+21A=)
3g.133766454A>GCA546290766TFc.1486+21A>G (n.1486+21A>G)
c.156+21A>G
c.1354+21A>G (n.1354+21A>G)
c.1105+21A>G (n.1105+21A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.133766456G>CCA2667768584TFc.1486+23G>C (n.1486+23G>C)
c.156+23G>C
c.1354+23G>C (n.1354+23G>C)
c.1105+23G>C (n.1105+23G>C)
 gnomAD v4
3g.133766456G>TCA2667768588TFc.1486+23G>T (n.1486+23G>T)
c.156+23G>T
c.1354+23G>T (n.1354+23G>T)
c.1105+23G>T (n.1105+23G>T)
 gnomAD v4
3g.133766457G>ACA899126011TFc.1486+24G>A (n.1486+24G>A)
c.156+24G>A
c.1354+24G>A (n.1354+24G>A)
c.1105+24G>A (n.1105+24G>A)
 dbSNP
3g.133766457G=CA1403119547TFc.1486+24G= (n.1486+24G=)
c.156+24G=
c.1354+24G= (n.1354+24G=)
c.1105+24G= (n.1105+24G=)
3g.133766460G>ACA899126016TFc.1486+27G>A (n.1486+27G>A)
c.156+27G>A
c.1354+27G>A (n.1354+27G>A)
c.1105+27G>A (n.1105+27G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.133766460G=CA1403119550TFc.1486+27G= (n.1486+27G=)
c.156+27G=
c.1354+27G= (n.1354+27G=)
c.1105+27G= (n.1105+27G=)
3g.133766461G>CCA2577907330TFc.1486+28G>C (n.1486+28G>C)
c.156+28G>C
c.1354+28G>C (n.1354+28G>C)
c.1105+28G>C (n.1105+28G>C)
 gnomAD v4
3g.133766462T>CCA2625312TFc.1486+29T>C (n.1486+29T>C)
c.156+29T>C
c.1354+29T>C (n.1354+29T>C)
c.1105+29T>C (n.1105+29T>C)
 dbSNP ExAC gnomAD v2
3g.133766462T=CA1403119554TFc.1486+29T= (n.1486+29T=)
c.156+29T=
c.1354+29T= (n.1354+29T=)
c.1105+29T= (n.1105+29T=)
3g.133766463G>ACA2625313TFc.1486+30G>A (n.1486+30G>A)
c.156+30G>A
c.1354+30G>A (n.1354+30G>A)
c.1105+30G>A (n.1105+30G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766463G=CA1403119557TFc.1486+30G= (n.1486+30G=)
c.156+30G=
c.1354+30G= (n.1354+30G=)
c.1105+30G= (n.1105+30G=)
3g.133766463G>TCA2667768596TFc.1486+30G>T (n.1486+30G>T)
c.156+30G>T
c.1354+30G>T (n.1354+30G>T)
c.1105+30G>T (n.1105+30G>T)
 gnomAD v4
3g.133766465G>ACA546290767TFc.1486+32G>A (n.1486+32G>A)
c.156+32G>A
c.1354+32G>A (n.1354+32G>A)
c.1105+32G>A (n.1105+32G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.133766465G>CCA2577907331TFc.1486+32G>C (n.1486+32G>C)
c.156+32G>C
c.1354+32G>C (n.1354+32G>C)
c.1105+32G>C (n.1105+32G>C)
3g.133766465G=CA1403119561TFc.1486+32G= (n.1486+32G=)
c.156+32G=
c.1354+32G= (n.1354+32G=)
c.1105+32G= (n.1105+32G=)
3g.133766466G>ACA546290768TFc.1486+33G>A (n.1486+33G>A)
c.156+33G>A
c.1354+33G>A (n.1354+33G>A)
c.1105+33G>A (n.1105+33G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133766466G=CA1403119564TFc.1486+33G= (n.1486+33G=)
c.156+33G=
c.1354+33G= (n.1354+33G=)
c.1105+33G= (n.1105+33G=)
3g.133766467G>ACA658789391TFc.1486+34G>A (n.1486+34G>A)
c.156+34G>A
c.1354+34G>A (n.1354+34G>A)
c.1105+34G>A (n.1105+34G>A)
3g.133766467G>TCA2667768603TFc.1486+34G>T (n.1486+34G>T)
c.156+34G>T
c.1354+34G>T (n.1354+34G>T)
c.1105+34G>T (n.1105+34G>T)
 gnomAD v4
3g.133766468C>ACA2667768604TFc.1486+35C>A (n.1486+35C>A)
c.156+35C>A
c.1354+35C>A (n.1354+35C>A)
c.1105+35C>A (n.1105+35C>A)
 gnomAD v4
3g.133766470A=CA1403119566TFc.1486+37A= (n.1486+37A=)
c.156+37A=
c.1354+37A= (n.1354+37A=)
c.1105+37A= (n.1105+37A=)
3g.133766470A>GCA2625314TFc.1486+37A>G (n.1486+37A>G)
c.156+37A>G
c.1354+37A>G (n.1354+37A>G)
c.1105+37A>G (n.1105+37A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766471T>CCA2577907332TFc.1486+38T>C (n.1486+38T>C)
c.156+38T>C
c.1354+38T>C (n.1354+38T>C)
c.1105+38T>C (n.1105+38T>C)
3g.133766473C=CA1403119569TFc.1486+40C= (n.1486+40C=)
c.156+40C=
c.1354+40C= (n.1354+40C=)
c.1105+40C= (n.1105+40C=)
3g.133766473C>TCA2625315TFc.1486+40C>T (n.1486+40C>T)
c.156+40C>T
c.1354+40C>T (n.1354+40C>T)
c.1105+40C>T (n.1105+40C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133766474C>ACA2577907333TFc.1486+41C>A (n.1486+41C>A)
c.156+41C>A
c.1354+41C>A (n.1354+41C>A)
c.1105+41C>A (n.1105+41C>A)
3g.133766479delCA2667768607TFc.1486+46del (n.1486+46del)
c.156+46del
c.1354+46del (n.1354+46del)
c.1105+46del (n.1105+46del)
 gnomAD v4
3g.133766478A>GCA2667768609TFc.1486+45A>G (n.1486+45A>G)
c.156+45A>G
c.1354+45A>G (n.1354+45A>G)
c.1105+45A>G (n.1105+45A>G)
 gnomAD v4
3g.133766479A>GCA2667768612TFc.1486+46A>G (n.1486+46A>G)
c.156+46A>G
c.1354+46A>G (n.1354+46A>G)
c.1105+46A>G (n.1105+46A>G)
 gnomAD v4
3g.133766480G>ACA2667768614TFc.1486+47G>A (n.1486+47G>A)
c.156+47G>A
c.1354+47G>A (n.1354+47G>A)
c.1105+47G>A (n.1105+47G>A)
 gnomAD v4
3g.133766480G>TCA2577907334TFc.1486+47G>T (n.1486+47G>T)
c.156+47G>T
c.1354+47G>T (n.1354+47G>T)
c.1105+47G>T (n.1105+47G>T)
3g.133766481C>ACA2577907335TFc.1486+48C>A (n.1486+48C>A)
c.156+48C>A
c.1354+48C>A (n.1354+48C>A)
c.1105+48C>A (n.1105+48C>A)
3g.133766481C>TCA2667768615TFc.1486+48C>T (n.1486+48C>T)
c.156+48C>T
c.1354+48C>T (n.1354+48C>T)
c.1105+48C>T (n.1105+48C>T)
 gnomAD v4

Number of alleles fetched