Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.133766377C>A | CA354608722 | TF | c.1430C>A (p.Ala477Asp) c.100C>A c.1298C>A (p.Ala433Asp) c.1049C>A (p.Ala350Asp) | |
3 | g.133766377C>G | CA354608723 | TF | c.1430C>G (p.Ala477Gly) c.100C>G c.1298C>G (p.Ala433Gly) c.1049C>G (p.Ala350Gly) | |
3 | g.133766377C>T | CA354608724 | TF | c.1430C>T (p.Ala477Val) c.100C>T c.1298C>T (p.Ala433Val) c.1049C>T (p.Ala350Val) | |
3 | g.133766378T>A | CA435815644 | TF | c.1431T>A (p.Ala477=) c.101T>A c.1299T>A (p.Ala433=) c.1050T>A (p.Ala350=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133766378T>C | CA2625299 | TF | c.1431T>C (p.Ala477=) c.101T>C c.1299T>C (p.Ala433=) c.1050T>C (p.Ala350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133766378T>G | CA435815645 | TF | c.1431T>G (p.Ala477=) c.101T>G c.1299T>G (p.Ala433=) c.1050T>G (p.Ala350=) | |
3 | g.133766378T= | CA1403119441 | TF | c.1431T= (p.Ala477=) c.101T= c.1299T= (p.Ala433=) c.1050T= (p.Ala350=) | |
3 | g.133766379G>A | CA354608727 | TF | c.1432G>A (p.Gly478Ser) c.102G>A c.1300G>A (p.Gly434Ser) c.1051G>A (p.Gly351Ser) | |
3 | g.133766379G>C | CA354608725 | TF | c.1432G>C (p.Gly478Arg) c.102G>C c.1300G>C (p.Gly434Arg) c.1051G>C (p.Gly351Arg) | |
3 | g.133766379G>T | CA354608726 | TF | c.1432G>T (p.Gly478Cys) c.102G>T c.1300G>T (p.Gly434Cys) c.1051G>T (p.Gly351Cys) | |
3 | g.133766380G>A | CA354608728 | TF | c.1433G>A (p.Gly478Asp) c.103G>A c.1301G>A (p.Gly434Asp) c.1052G>A (p.Gly351Asp) | |
3 | g.133766380G>C | CA354608729 | TF | c.1433G>C (p.Gly478Ala) c.103G>C c.1301G>C (p.Gly434Ala) c.1052G>C (p.Gly351Ala) | |
3 | g.133766380G= | CA1403119445 | TF | c.1433G= (p.Gly478=) c.103G= c.1301G= (p.Gly434=) c.1052G= (p.Gly351=) | |
3 | g.133766380G>T | CA354608730 | TF | c.1433G>T (p.Gly478Val) c.103G>T c.1301G>T (p.Gly434Val) c.1052G>T (p.Gly351Val) | dbSNP gnomAD v4 |
3 | g.133766381C>A | CA435815646 | TF | c.1434C>A (p.Gly478=) c.104C>A c.1302C>A (p.Gly434=) c.1053C>A (p.Gly351=) | |
3 | g.133766381C>G | CA435815647 | TF | c.1434C>G (p.Gly478=) c.104C>G c.1302C>G (p.Gly434=) c.1053C>G (p.Gly351=) | |
3 | g.133766381C>T | CA435815648 | TF | c.1434C>T (p.Gly478=) c.104C>T c.1302C>T (p.Gly434=) c.1053C>T (p.Gly351=) | |
3 | g.133766382T>A | CA354608731 | TF | c.1435T>A (p.Trp479Arg) c.105T>A c.1303T>A (p.Trp435Arg) c.1054T>A (p.Trp352Arg) | |
3 | g.133766382T>C | CA354608732 | TF | c.1435T>C (p.Trp479Arg) c.105T>C c.1303T>C (p.Trp435Arg) c.1054T>C (p.Trp352Arg) | |
3 | g.133766382T>G | CA354608733 | TF | c.1435T>G (p.Trp479Gly) c.105T>G c.1303T>G (p.Trp435Gly) c.1054T>G (p.Trp352Gly) | gnomAD v4 |
3 | g.133766383G>A | CA2625300 | TF | c.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 |
3 | g.133766383G>C | CA354608734 | TF | c.1436G>C (p.Trp479Ser) c.106G>C c.1304G>C (p.Trp435Ser) c.1055G>C (p.Trp352Ser) | |
3 | g.133766383G= | CA1403119449 | TF | c.1436G= (p.Trp479=) c.106G= c.1304G= (p.Trp435=) c.1055G= (p.Trp352=) | |
3 | g.133766383G>T | CA354608735 | TF | c.1436G>T (p.Trp479Leu) c.106G>T c.1304G>T (p.Trp435Leu) c.1055G>T (p.Trp352Leu) | |
3 | g.133766384G>A | CA354608736 | TF | c.1437G>A (p.Trp479Ter) c.107G>A c.1305G>A (p.Trp435Ter) c.1056G>A (p.Trp352Ter) | |
3 | g.133766384G>C | CA354608737 | TF | c.1437G>C (p.Trp479Cys) c.107G>C c.1305G>C (p.Trp435Cys) c.1056G>C (p.Trp352Cys) | |
3 | g.133766384G>T | CA354608738 | TF | c.1437G>T (p.Trp479Cys) c.107G>T c.1305G>T (p.Trp435Cys) c.1056G>T (p.Trp352Cys) | |
3 | g.133766385A>C | CA354608739 | TF | c.1438A>C (p.Asn480His) c.108A>C c.1306A>C (p.Asn436His) c.1057A>C (p.Asn353His) | |
3 | g.133766385A>G | CA354608741 | TF | c.1438A>G (p.Asn480Asp) c.108A>G c.1306A>G (p.Asn436Asp) c.1057A>G (p.Asn353Asp) | |
3 | g.133766385A>T | CA354608740 | TF | c.1438A>T (p.Asn480Tyr) c.108A>T c.1306A>T (p.Asn436Tyr) c.1057A>T (p.Asn353Tyr) | |
3 | g.133766386A>C | CA354608742 | TF | c.1439A>C (p.Asn480Thr) c.109A>C c.1307A>C (p.Asn436Thr) c.1058A>C (p.Asn353Thr) | |
3 | g.133766386A>G | CA354608743 | TF | c.1439A>G (p.Asn480Ser) c.109A>G c.1307A>G (p.Asn436Ser) c.1058A>G (p.Asn353Ser) | |
3 | g.133766386A>T | CA354608744 | TF | c.1439A>T (p.Asn480Ile) c.109A>T c.1307A>T (p.Asn436Ile) c.1058A>T (p.Asn353Ile) | |
3 | g.133766387C>A | CA354608745 | TF | c.1440C>A (p.Asn480Lys) c.110C>A c.1308C>A (p.Asn436Lys) c.1059C>A (p.Asn353Lys) | |
3 | g.133766387C= | CA1403119453 | TF | c.1440C= (p.Asn480=) c.110C= c.1308C= (p.Asn436=) c.1059C= (p.Asn353=) | |
3 | g.133766387C>G | CA354608746 | TF | c.1440C>G (p.Asn480Lys) c.110C>G c.1308C>G (p.Asn436Lys) c.1059C>G (p.Asn353Lys) | |
3 | g.133766387C>T | CA435815649 | TF | c.1440C>T (p.Asn480=) c.110C>T c.1308C>T (p.Asn436=) c.1059C>T (p.Asn353=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.133766388A>C | CA354608747 | TF | c.1441A>C (p.Ile481Leu) c.111A>C c.1309A>C (p.Ile437Leu) c.1060A>C (p.Ile354Leu) | |
3 | g.133766388A>G | CA354608748 | TF | c.1441A>G (p.Ile481Val) c.111A>G c.1309A>G (p.Ile437Val) c.1060A>G (p.Ile354Val) | |
3 | g.133766388A>T | CA354608749 | TF | c.1441A>T (p.Ile481Phe) c.111A>T c.1309A>T (p.Ile437Phe) c.1060A>T (p.Ile354Phe) | |
3 | g.133766389T>A | CA354608750 | TF | c.1442T>A (p.Ile481Asn) c.112T>A c.1310T>A (p.Ile437Asn) c.1061T>A (p.Ile354Asn) | |
3 | g.133766389T>C | CA354608751 | TF | c.1442T>C (p.Ile481Thr) c.112T>C c.1310T>C (p.Ile437Thr) c.1061T>C (p.Ile354Thr) | |
3 | g.133766389T>G | CA354608752 | TF | c.1442T>G (p.Ile481Ser) c.112T>G c.1310T>G (p.Ile437Ser) c.1061T>G (p.Ile354Ser) | |
3 | g.133766389_133766390delinsTC | CA1403119458 | TF | c.1442_1443delinsTC (p.Ile481=) c.112_113delinsTC c.1310_1311delinsTC (p.Ile437=) c.1061_1062delinsTC (p.Ile354=) | |
3 | g.133766390C>A | CA435815651 | TF | c.1443C>A (p.Ile481=) c.113C>A c.1311C>A (p.Ile437=) c.1062C>A (p.Ile354=) | |
3 | g.133766390C= | CA1403119463 | TF | c.1443C= (p.Ile481=) c.113C= c.1311C= (p.Ile437=) c.1062C= (p.Ile354=) | |
3 | g.133766390C>G | CA2625302 | TF | c.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 |
3 | g.133766390C>T | CA435815650 | TF | c.1443C>T (p.Ile481=) c.113C>T c.1311C>T (p.Ile437=) c.1062C>T (p.Ile354=) | |
3 | g.133766393del | CA2625301 | TF | c.1446del (p.Met483TrpfsTer?) c.116del c.1314del (p.Met439TrpfsTer?) c.1065del (p.Met356TrpfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133766391C>A | CA354608753 | TF | c.1444C>A (p.Pro482Thr) c.114C>A c.1312C>A (p.Pro438Thr) c.1063C>A (p.Pro355Thr) | COSMIC |
3 | g.133766391C>G | CA354608755 | TF | c.1444C>G (p.Pro482Ala) c.114C>G c.1312C>G (p.Pro438Ala) c.1063C>G (p.Pro355Ala) | |
3 | g.133766391C>T | CA354608754 | TF | c.1444C>T (p.Pro482Ser) c.114C>T c.1312C>T (p.Pro438Ser) c.1063C>T (p.Pro355Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.133766392C>A | CA354608756 | TF | c.1445C>A (p.Pro482His) c.115C>A c.1313C>A (p.Pro438His) c.1064C>A (p.Pro355His) | |
3 | g.133766392C>G | CA354608757 | TF | c.1445C>G (p.Pro482Arg) c.115C>G c.1313C>G (p.Pro438Arg) c.1064C>G (p.Pro355Arg) | |
3 | g.133766392C>T | CA354608758 | TF | c.1445C>T (p.Pro482Leu) c.115C>T c.1313C>T (p.Pro438Leu) c.1064C>T (p.Pro355Leu) | gnomAD v4 |
3 | g.133766393C>A | CA435815652 | TF | c.1446C>A (p.Pro482=) c.116C>A c.1314C>A (p.Pro438=) c.1065C>A (p.Pro355=) | |
3 | g.133766393C= | CA1403119469 | TF | c.1446C= (p.Pro482=) c.116C= c.1314C= (p.Pro438=) c.1065C= (p.Pro355=) | |
3 | g.133766393C>G | CA435815653 | TF | c.1446C>G (p.Pro482=) c.116C>G c.1314C>G (p.Pro438=) c.1065C>G (p.Pro355=) | |
3 | g.133766393C>T | CA2625303 | TF | c.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 |
3 | g.133766394A>C | CA354608759 | TF | c.1447A>C (p.Met483Leu) c.117A>C c.1315A>C (p.Met439Leu) c.1066A>C (p.Met356Leu) | |
3 | g.133766394A>G | CA354608760 | TF | c.1447A>G (p.Met483Val) c.117A>G c.1315A>G (p.Met439Val) c.1066A>G (p.Met356Val) | gnomAD v4 |
3 | g.133766394A>T | CA354608761 | TF | c.1447A>T (p.Met483Leu) c.117A>T c.1315A>T (p.Met439Leu) c.1066A>T (p.Met356Leu) | |
3 | g.133766395T>A | CA354608762 | TF | c.1448T>A (p.Met483Lys) c.118T>A c.1316T>A (p.Met439Lys) c.1067T>A (p.Met356Lys) | |
3 | g.133766395T>C | CA2625304 | TF | c.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 |
3 | g.133766395T>G | CA354608763 | TF | c.1448T>G (p.Met483Arg) c.118T>G c.1316T>G (p.Met439Arg) c.1067T>G (p.Met356Arg) | |
3 | g.133766395T= | CA1403119475 | TF | c.1448T= (p.Met483=) c.118T= c.1316T= (p.Met439=) c.1067T= (p.Met356=) | |
3 | g.133766396G>A | CA354608765 | TF | c.1449G>A (p.Met483Ile) c.119G>A c.1317G>A (p.Met439Ile) c.1068G>A (p.Met356Ile) | COSMIC |
3 | g.133766396G>C | CA354608766 | TF | c.1449G>C (p.Met483Ile) c.119G>C c.1317G>C (p.Met439Ile) c.1068G>C (p.Met356Ile) | |
3 | g.133766396G>T | CA354608764 | TF | c.1449G>T (p.Met483Ile) c.119G>T c.1317G>T (p.Met439Ile) c.1068G>T (p.Met356Ile) | gnomAD v4 |
3 | g.133766397G>A | CA354608768 | TF | c.1450G>A (p.Gly484Ser) c.120G>A c.1318G>A (p.Gly440Ser) c.1069G>A (p.Gly357Ser) | gnomAD v4 |
3 | g.133766397G>C | CA354608767 | TF | c.1450G>C (p.Gly484Arg) c.120G>C c.1318G>C (p.Gly440Arg) c.1069G>C (p.Gly357Arg) | |
3 | g.133766397G>T | CA354608769 | TF | c.1450G>T (p.Gly484Cys) c.120G>T c.1318G>T (p.Gly440Cys) c.1069G>T (p.Gly357Cys) | |
3 | g.133766398G>A | CA354608770 | TF | c.1451G>A (p.Gly484Asp) c.121G>A c.1319G>A (p.Gly440Asp) c.1070G>A (p.Gly357Asp) | COSMIC |
3 | g.133766398G>C | CA354608772 | TF | c.1451G>C (p.Gly484Ala) c.121G>C c.1319G>C (p.Gly440Ala) c.1070G>C (p.Gly357Ala) | gnomAD v4 |
3 | g.133766398G>T | CA354608771 | TF | c.1451G>T (p.Gly484Val) c.121G>T c.1319G>T (p.Gly440Val) c.1070G>T (p.Gly357Val) | |
3 | g.133766399C>A | CA435815654 | TF | c.1452C>A (p.Gly484=) c.122C>A c.1320C>A (p.Gly440=) c.1071C>A (p.Gly357=) | |
3 | g.133766399C>G | CA435815655 | TF | c.1452C>G (p.Gly484=) c.122C>G c.1320C>G (p.Gly440=) c.1071C>G (p.Gly357=) | |
3 | g.133766399C>T | CA435815656 | TF | c.1452C>T (p.Gly484=) c.122C>T c.1320C>T (p.Gly440=) c.1071C>T (p.Gly357=) | |
3 | g.133766400C>A | CA354608773 | TF | c.1453C>A (p.Leu485Met) c.123C>A c.1321C>A (p.Leu441Met) c.1072C>A (p.Leu358Met) | |
3 | g.133766400C>G | CA354608774 | TF | c.1453C>G (p.Leu485Val) c.123C>G c.1321C>G (p.Leu441Val) c.1072C>G (p.Leu358Val) | gnomAD v4 |
3 | g.133766400C>T | CA435815657 | TF | c.1453C>T (p.Leu485=) c.123C>T c.1321C>T (p.Leu441=) c.1072C>T (p.Leu358=) | gnomAD v4 |
3 | g.133766401T>A | CA354608775 | TF | c.1454T>A (p.Leu485Gln) c.124T>A c.1322T>A (p.Leu441Gln) c.1073T>A (p.Leu358Gln) | |
3 | g.133766401T>C | CA354608776 | TF | c.1454T>C (p.Leu485Pro) c.124T>C c.1322T>C (p.Leu441Pro) c.1073T>C (p.Leu358Pro) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133766401T>G | CA354608777 | TF | c.1454T>G (p.Leu485Arg) c.124T>G c.1322T>G (p.Leu441Arg) c.1073T>G (p.Leu358Arg) | |
3 | g.133766401T= | CA1403119478 | TF | c.1454T= (p.Leu485=) c.124T= c.1322T= (p.Leu441=) c.1073T= (p.Leu358=) | |
3 | g.133766402G>A | CA435815658 | TF | c.1455G>A (p.Leu485=) c.125G>A c.1323G>A (p.Leu441=) c.1074G>A (p.Leu358=) | ClinVar gnomAD v4 |
3 | g.133766402G>C | CA435815659 | TF | c.1455G>C (p.Leu485=) c.125G>C c.1323G>C (p.Leu441=) c.1074G>C (p.Leu358=) | |
3 | g.133766402G= | CA1403119479 | TF | c.1455G= (p.Leu485=) c.125G= c.1323G= (p.Leu441=) c.1074G= (p.Leu358=) | |
3 | g.133766402G>T | CA2625305 | TF | c.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 |
3 | g.133766403C>A | CA354608778 | TF | c.1456C>A (p.Leu486Ile) c.126C>A c.1324C>A (p.Leu442Ile) c.1075C>A (p.Leu359Ile) | dbSNP |
3 | g.133766403C= | CA1403119483 | TF | c.1456C= (p.Leu486=) c.126C= c.1324C= (p.Leu442=) c.1075C= (p.Leu359=) | |
3 | g.133766403C>G | CA2625306 | TF | c.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 |
3 | g.133766403C>T | CA354608779 | TF | c.1456C>T (p.Leu486Phe) c.126C>T c.1324C>T (p.Leu442Phe) c.1075C>T (p.Leu359Phe) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133766404T>A | CA354608780 | TF | c.1457T>A (p.Leu486His) c.127T>A c.1325T>A (p.Leu442His) c.1076T>A (p.Leu359His) | |
3 | g.133766404T>C | CA354608781 | TF | c.1457T>C (p.Leu486Pro) c.127T>C c.1325T>C (p.Leu442Pro) c.1076T>C (p.Leu359Pro) | |
3 | g.133766404T>G | CA354608782 | TF | c.1457T>G (p.Leu486Arg) c.127T>G c.1325T>G (p.Leu442Arg) c.1076T>G (p.Leu359Arg) | |
3 | g.133766405C>A | CA435815660 | TF | c.1458C>A (p.Leu486=) c.128C>A c.1326C>A (p.Leu442=) c.1077C>A (p.Leu359=) | |
3 | g.133766405C= | CA1403119489 | TF | c.1458C= (p.Leu486=) c.128C= c.1326C= (p.Leu442=) c.1077C= (p.Leu359=) | |
3 | g.133766405C>G | CA435815661 | TF | c.1458C>G (p.Leu486=) c.128C>G c.1326C>G (p.Leu442=) c.1077C>G (p.Leu359=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133766405C>T | CA435815662 | TF | c.1458C>T (p.Leu486=) c.128C>T c.1326C>T (p.Leu442=) c.1077C>T (p.Leu359=) | |
3 | g.133766406T>A | CA354608783 | TF | c.1459T>A (p.Tyr487Asn) c.129T>A c.1327T>A (p.Tyr443Asn) c.1078T>A (p.Tyr360Asn) | |
3 | g.133766406T>C | CA354608785 | TF | c.1459T>C (p.Tyr487His) c.129T>C c.1327T>C (p.Tyr443His) c.1078T>C (p.Tyr360His) | gnomAD v4 |
3 | g.133766406T>G | CA354608784 | TF | c.1459T>G (p.Tyr487Asp) c.129T>G c.1327T>G (p.Tyr443Asp) c.1078T>G (p.Tyr360Asp) | |
3 | g.133766407A= | CA1403119492 | TF | c.1460A= (p.Tyr487=) c.130A= c.1328A= (p.Tyr443=) c.1079A= (p.Tyr360=) | |
3 | g.133766407A>C | CA354608786 | TF | c.1460A>C (p.Tyr487Ser) c.130A>C c.1328A>C (p.Tyr443Ser) c.1079A>C (p.Tyr360Ser) | |
3 | g.133766407A>G | CA354608787 | TF | c.1460A>G (p.Tyr487Cys) c.130A>G c.1328A>G (p.Tyr443Cys) c.1079A>G (p.Tyr360Cys) | dbSNP gnomAD v4 |
3 | g.133766407A>T | CA354608788 | TF | c.1460A>T (p.Tyr487Phe) c.130A>T c.1328A>T (p.Tyr443Phe) c.1079A>T (p.Tyr360Phe) | |
3 | g.133766408C>A | CA354608789 | TF | c.1461C>A (p.Tyr487Ter) c.131C>A c.1329C>A (p.Tyr443Ter) c.1080C>A (p.Tyr360Ter) | |
3 | g.133766408C>G | CA354608790 | TF | c.1461C>G (p.Tyr487Ter) c.131C>G c.1329C>G (p.Tyr443Ter) c.1080C>G (p.Tyr360Ter) | |
3 | g.133766408C>T | CA435815663 | TF | c.1461C>T (p.Tyr487=) c.131C>T c.1329C>T (p.Tyr443=) c.1080C>T (p.Tyr360=) | gnomAD v4 |
3 | g.133766408_133766411delinsCAAT | CA1403119499 | TF | c.1461_1464delinsCAAT (p.Tyr487=) c.131_134delinsCAAT c.1329_1332delinsCAAT (p.Tyr443=) c.1080_1083delinsCAAT (p.Tyr360=) | |
3 | g.133766409A>C | CA354608791 | TF | c.1462A>C (p.Asn488His) c.132A>C c.1330A>C (p.Asn444His) c.1081A>C (p.Asn361His) | gnomAD v4 |
3 | g.133766409A>G | CA354608792 | TF | c.1462A>G (p.Asn488Asp) c.132A>G c.1330A>G (p.Asn444Asp) c.1081A>G (p.Asn361Asp) | |
3 | g.133766409A>T | CA354608793 | TF | c.1462A>T (p.Asn488Tyr) c.132A>T c.1330A>T (p.Asn444Tyr) c.1081A>T (p.Asn361Tyr) | |
3 | g.133766411_133766413del | CA2625307 | TF | c.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 |
3 | g.133766410A= | CA1403119511 | TF | c.1463A= (p.Asn488=) c.133A= c.1331A= (p.Asn444=) c.1082A= (p.Asn361=) | |
3 | g.133766410A>C | CA354608795 | TF | c.1463A>C (p.Asn488Thr) c.133A>C c.1331A>C (p.Asn444Thr) c.1082A>C (p.Asn361Thr) | |
3 | g.133766410A>G | CA83685630 | TF | c.1463A>G (p.Asn488Ser) c.133A>G c.1331A>G (p.Asn444Ser) c.1082A>G (p.Asn361Ser) | dbSNP gnomAD v4 |
3 | g.133766410A>T | CA354608794 | TF | c.1463A>T (p.Asn488Ile) c.133A>T c.1331A>T (p.Asn444Ile) c.1082A>T (p.Asn361Ile) | |
3 | g.133766411T>A | CA354608796 | TF | c.1464T>A (p.Asn488Lys) c.134T>A c.1332T>A (p.Asn444Lys) c.1083T>A (p.Asn361Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133766411T>C | CA435815664 | TF | c.1464T>C (p.Asn488=) c.134T>C c.1332T>C (p.Asn444=) c.1083T>C (p.Asn361=) | |
3 | g.133766411T>G | CA354608797 | TF | c.1464T>G (p.Asn488Lys) c.134T>G c.1332T>G (p.Asn444Lys) c.1083T>G (p.Asn361Lys) | |
3 | g.133766411T= | CA1403119517 | TF | c.1464T= (p.Asn488=) c.134T= c.1332T= (p.Asn444=) c.1083T= (p.Asn361=) | |
3 | g.133766412A>C | CA354608798 | TF | c.1465A>C (p.Lys489Gln) c.135A>C c.1333A>C (p.Lys445Gln) c.1084A>C (p.Lys362Gln) | |
3 | g.133766412A>G | CA354608799 | TF | c.1465A>G (p.Lys489Glu) c.135A>G c.1333A>G (p.Lys445Glu) c.1084A>G (p.Lys362Glu) | COSMIC |
3 | g.133766412A>T | CA354608800 | TF | c.1465A>T (p.Lys489Ter) c.135A>T c.1333A>T (p.Lys445Ter) c.1084A>T (p.Lys362Ter) | |
3 | g.133766413A>C | CA354608803 | TF | c.1466A>C (p.Lys489Thr) c.136A>C c.1334A>C (p.Lys445Thr) c.1085A>C (p.Lys362Thr) | |
3 | g.133766413A>G | CA354608801 | TF | c.1466A>G (p.Lys489Arg) c.136A>G c.1334A>G (p.Lys445Arg) c.1085A>G (p.Lys362Arg) | |
3 | g.133766413A>T | CA354608802 | TF | c.1466A>T (p.Lys489Met) c.136A>T c.1334A>T (p.Lys445Met) c.1085A>T (p.Lys362Met) | |
3 | g.133766414G>A | CA83685635 | TF | c.1467G>A (p.Lys489=) c.137G>A c.1335G>A (p.Lys445=) c.1086G>A (p.Lys362=) | dbSNP gnomAD v4 |
3 | g.133766414G>C | CA354608804 | TF | c.1467G>C (p.Lys489Asn) c.137G>C c.1335G>C (p.Lys445Asn) c.1086G>C (p.Lys362Asn) | |
3 | g.133766414G= | CA1403119519 | TF | c.1467G= (p.Lys489=) c.137G= c.1335G= (p.Lys445=) c.1086G= (p.Lys362=) | |
3 | g.133766414G>T | CA354608805 | TF | c.1467G>T (p.Lys489Asn) c.137G>T c.1335G>T (p.Lys445Asn) c.1086G>T (p.Lys362Asn) | |
3 | g.133766415A>C | CA354608806 | TF | c.1468A>C (p.Ile490Leu) c.138A>C c.1336A>C (p.Ile446Leu) c.1087A>C (p.Ile363Leu) | |
3 | g.133766415A>G | CA354608807 | TF | c.1468A>G (p.Ile490Val) c.138A>G c.1336A>G (p.Ile446Val) c.1087A>G (p.Ile363Val) | |
3 | g.133766415A>T | CA354608808 | TF | c.1468A>T (p.Ile490Phe) c.138A>T c.1336A>T (p.Ile446Phe) c.1087A>T (p.Ile363Phe) | |
3 | g.133766416T>A | CA354608809 | TF | c.1469T>A (p.Ile490Asn) c.139T>A c.1337T>A (p.Ile446Asn) c.1088T>A (p.Ile363Asn) | |
3 | g.133766416T>C | CA354608811 | TF | c.1469T>C (p.Ile490Thr) c.139T>C c.1337T>C (p.Ile446Thr) c.1088T>C (p.Ile363Thr) | |
3 | g.133766416T>G | CA354608810 | TF | c.1469T>G (p.Ile490Ser) c.139T>G c.1337T>G (p.Ile446Ser) c.1088T>G (p.Ile363Ser) | |
3 | g.133766417C>A | CA435815665 | TF | c.1470C>A (p.Ile490=) c.140C>A c.1338C>A (p.Ile446=) c.1089C>A (p.Ile363=) | |
3 | g.133766417C>G | CA354608812 | TF | c.1470C>G (p.Ile490Met) c.140C>G c.1338C>G (p.Ile446Met) c.1089C>G (p.Ile363Met) | |
3 | g.133766417C>T | CA435815666 | TF | c.1470C>T (p.Ile490=) c.140C>T c.1338C>T (p.Ile446=) c.1089C>T (p.Ile363=) | |
3 | g.133766418A>C | CA354608813 | TF | c.1471A>C (p.Asn491His) c.141A>C c.1339A>C (p.Asn447His) c.1090A>C (p.Asn364His) | |
3 | g.133766418A>G | CA354608814 | TF | c.1471A>G (p.Asn491Asp) c.141A>G c.1339A>G (p.Asn447Asp) c.1090A>G (p.Asn364Asp) | |
3 | g.133766418A>T | CA354608815 | TF | c.1471A>T (p.Asn491Tyr) c.141A>T c.1339A>T (p.Asn447Tyr) c.1090A>T (p.Asn364Tyr) | |
3 | g.133766419A>C | CA354608816 | TF | c.1472A>C (p.Asn491Thr) c.142A>C c.1340A>C (p.Asn447Thr) c.1091A>C (p.Asn364Thr) | |
3 | g.133766419A>G | CA354608817 | TF | c.1472A>G (p.Asn491Ser) c.142A>G c.1340A>G (p.Asn447Ser) c.1091A>G (p.Asn364Ser) | |
3 | g.133766419A>T | CA354608818 | TF | c.1472A>T (p.Asn491Ile) c.142A>T c.1340A>T (p.Asn447Ile) c.1091A>T (p.Asn364Ile) | |
3 | g.133766420C>A | CA354608819 | TF | c.1473C>A (p.Asn491Lys) c.143C>A c.1341C>A (p.Asn447Lys) c.1092C>A (p.Asn364Lys) | |
3 | g.133766420C= | CA1403119520 | TF | c.1473C= (p.Asn491=) c.143C= c.1341C= (p.Asn447=) c.1092C= (p.Asn364=) | |
3 | g.133766420C>G | CA354608820 | TF | c.1473C>G (p.Asn491Lys) c.143C>G c.1341C>G (p.Asn447Lys) c.1092C>G (p.Asn364Lys) | |
3 | g.133766420C>T | CA435815667 | TF | c.1473C>T (p.Asn491=) c.143C>T c.1341C>T (p.Asn447=) c.1092C>T (p.Asn364=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.133766421C>A | CA354608821 | TF | c.1474C>A (p.His492Asn) c.144C>A c.1342C>A (p.His448Asn) c.1093C>A (p.His365Asn) | |
3 | g.133766421C>G | CA354608822 | TF | c.1474C>G (p.His492Asp) c.144C>G c.1342C>G (p.His448Asp) c.1093C>G (p.His365Asp) | |
3 | g.133766421C>T | CA354608823 | TF | c.1474C>T (p.His492Tyr) c.144C>T c.1342C>T (p.His448Tyr) c.1093C>T (p.His365Tyr) | gnomAD v4 |
3 | g.133766422A>C | CA354608825 | TF | c.1475A>C (p.His492Pro) c.145A>C c.1343A>C (p.His448Pro) c.1094A>C (p.His365Pro) | |
3 | g.133766422A>G | CA354608826 | TF | c.1475A>G (p.His492Arg) c.145A>G c.1343A>G (p.His448Arg) c.1094A>G (p.His365Arg) | |
3 | g.133766422A>T | CA354608824 | TF | c.1475A>T (p.His492Leu) c.145A>T c.1343A>T (p.His448Leu) c.1094A>T (p.His365Leu) | |
3 | g.133766423C>A | CA354608828 | TF | c.1476C>A (p.His492Gln) c.146C>A c.1344C>A (p.His448Gln) c.1095C>A (p.His365Gln) | |
3 | g.133766423C= | CA1403119521 | TF | c.1476C= (p.His492=) c.146C= c.1344C= (p.His448=) c.1095C= (p.His365=) | |
3 | g.133766423C>G | CA354608827 | TF | c.1476C>G (p.His492Gln) c.146C>G c.1344C>G (p.His448Gln) c.1095C>G (p.His365Gln) | |
3 | g.133766423C>T | CA2625308 | TF | c.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 |
3 | g.133766424T>A | CA354608829 | TF | c.1477T>A (p.Cys493Ser) c.147T>A c.1345T>A (p.Cys449Ser) c.1096T>A (p.Cys366Ser) | |
3 | g.133766424T>C | CA354608830 | TF | c.1477T>C (p.Cys493Arg) c.147T>C c.1345T>C (p.Cys449Arg) c.1096T>C (p.Cys366Arg) | |
3 | g.133766424T>G | CA354608831 | TF | c.1477T>G (p.Cys493Gly) c.147T>G c.1345T>G (p.Cys449Gly) c.1096T>G (p.Cys366Gly) | |
3 | g.133766425G>A | CA354608832 | TF | c.1478G>A (p.Cys493Tyr) c.148G>A c.1346G>A (p.Cys449Tyr) c.1097G>A (p.Cys366Tyr) | |
3 | g.133766425G>C | CA354608833 | TF | c.1478G>C (p.Cys493Ser) c.148G>C c.1346G>C (p.Cys449Ser) c.1097G>C (p.Cys366Ser) | |
3 | g.133766425G>T | CA354608834 | TF | c.1478G>T (p.Cys493Phe) c.148G>T c.1346G>T (p.Cys449Phe) c.1097G>T (p.Cys366Phe) | |
3 | g.133766426C>A | CA354608835 | TF | c.1479C>A (p.Cys493Ter) c.149C>A c.1347C>A (p.Cys449Ter) c.1098C>A (p.Cys366Ter) | |
3 | g.133766426C>G | CA354608836 | TF | c.1479C>G (p.Cys493Trp) c.149C>G c.1347C>G (p.Cys449Trp) c.1098C>G (p.Cys366Trp) | |
3 | g.133766426C>T | CA435815668 | TF | c.1479C>T (p.Cys493=) c.149C>T c.1347C>T (p.Cys449=) c.1098C>T (p.Cys366=) | |
3 | g.133766427A= | CA1403119522 | TF | c.1480A= (p.Arg494=) c.150A= c.1348A= (p.Arg450=) c.1099A= (p.Arg367=) | |
3 | g.133766427A>C | CA435815669 | TF | c.1480A>C (p.Arg494=) c.150A>C c.1348A>C (p.Arg450=) c.1099A>C (p.Arg367=) | dbSNP |
3 | g.133766427A>G | CA354608837 | TF | c.1480A>G (p.Arg494Gly) c.150A>G c.1348A>G (p.Arg450Gly) c.1099A>G (p.Arg367Gly) | |
3 | g.133766427A>T | CA354608838 | TF | c.1480A>T (p.Arg494Ter) c.150A>T c.1348A>T (p.Arg450Ter) c.1099A>T (p.Arg367Ter) | |
3 | g.133766428G>A | CA354608839 | TF | c.1481G>A (p.Arg494Lys) c.151G>A c.1349G>A (p.Arg450Lys) c.1100G>A (p.Arg367Lys) | |
3 | g.133766428G>C | CA354608840 | TF | c.1481G>C (p.Arg494Thr) c.151G>C c.1349G>C (p.Arg450Thr) c.1100G>C (p.Arg367Thr) | |
3 | g.133766428G= | CA1403119523 | TF | c.1481G= (p.Arg494=) c.151G= c.1349G= (p.Arg450=) c.1100G= (p.Arg367=) | |
3 | g.133766428G>T | CA83685652 | TF | c.1481G>T (p.Arg494Ile) c.151G>T c.1349G>T (p.Arg450Ile) c.1100G>T (p.Arg367Ile) | dbSNP |
3 | g.133766429A>C | CA354608841 | TF | c.1482A>C (p.Arg494Ser) c.152A>C c.1350A>C (p.Arg450Ser) c.1101A>C (p.Arg367Ser) | |
3 | g.133766429A>G | CA435815670 | TF | c.1482A>G (p.Arg494=) c.152A>G c.1350A>G (p.Arg450=) c.1101A>G (p.Arg367=) | |
3 | g.133766429A>T | CA354608842 | TF | c.1482A>T (p.Arg494Ser) c.152A>T c.1350A>T (p.Arg450Ser) c.1101A>T (p.Arg367Ser) | |
3 | g.133766430T>A | CA354608843 | TF | c.1483T>A (p.Phe495Ile) c.153T>A c.1351T>A (p.Phe451Ile) c.1102T>A (p.Phe368Ile) | |
3 | g.133766430T>C | CA354608844 | TF | c.1483T>C (p.Phe495Leu) c.153T>C c.1351T>C (p.Phe451Leu) c.1102T>C (p.Phe368Leu) | gnomAD v4 |
3 | g.133766430T>G | CA354608845 | TF | c.1483T>G (p.Phe495Val) c.153T>G c.1351T>G (p.Phe451Val) c.1102T>G (p.Phe368Val) | |
3 | g.133766431T>A | CA354608847 | TF | c.1484T>A (p.Phe495Tyr) c.154T>A c.1352T>A (p.Phe451Tyr) c.1103T>A (p.Phe368Tyr) | |
3 | g.133766431T>C | CA354608846 | TF | c.1484T>C (p.Phe495Ser) c.154T>C c.1352T>C (p.Phe451Ser) c.1103T>C (p.Phe368Ser) | gnomAD v4 |
3 | g.133766431T>G | CA2625309 | TF | c.1484T>G (p.Phe495Cys) c.154T>G c.1352T>G (p.Phe451Cys) c.1103T>G (p.Phe368Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133766431T= | CA1403119527 | TF | c.1484T= (p.Phe495=) c.154T= c.1352T= (p.Phe451=) c.1103T= (p.Phe368=) | |
3 | g.133766432T>A | CA354608848 | TF | c.1485T>A (p.Phe495Leu) c.155T>A c.1353T>A (p.Phe451Leu) c.1104T>A (p.Phe368Leu) | |
3 | g.133766432T>C | CA435815671 | TF | c.1485T>C (p.Phe495=) c.155T>C c.1353T>C (p.Phe451=) c.1104T>C (p.Phe368=) | |
3 | g.133766432T>G | CA354608849 | TF | c.1485T>G (p.Phe495Leu) c.155T>G c.1353T>G (p.Phe451Leu) c.1104T>G (p.Phe368Leu) | |
3 | g.133766433G>A | CA354608850 | TF | c.1486G>A (p.Asp496Asn) c.156G>A c.1354G>A (p.Asp452Asn) c.1105G>A (p.Asp369Asn) | |
3 | g.133766433G>C | CA354608851 | TF | c.1486G>C (p.Asp496His) c.156G>C c.1354G>C (p.Asp452His) c.1105G>C (p.Asp369His) | |
3 | g.133766433G>T | CA354608852 | TF | c.1486G>T (p.Asp496Tyr) c.156G>T c.1354G>T (p.Asp452Tyr) c.1105G>T (p.Asp369Tyr) | |
3 | g.133766434G>A | CA354608855 | TF | c.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) | |
3 | g.133766434G>C | CA354608854 | TF | c.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) | |
3 | g.133766434G= | CA1403119530 | TF | c.1486+1G= (n.1486+1G=) c.156+1G= c.1354+1G= (n.1354+1G=) c.1105+1G= (n.1105+1G=) | |
3 | g.133766434G>T | CA354608853 | TF | c.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 |
3 | g.133766435T>A | CA354608856 | TF | c.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) | |
3 | g.133766435T>C | CA354608858 | TF | c.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 |
3 | g.133766435T>G | CA354608857 | TF | c.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) | |
3 | g.133766436G>A | CA2667768561 | TF | c.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 |
3 | g.133766436G>C | CA2667768563 | TF | c.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 |
3 | g.133766437A= | CA1403119533 | TF | c.1486+4A= (n.1486+4A=) c.156+4A= c.1354+4A= (n.1354+4A=) c.1105+4A= (n.1105+4A=) | |
3 | g.133766437A>C | CA2625310 | TF | c.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 |
3 | g.133766438G>A | CA546290763 | TF | c.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 |
3 | g.133766438G= | CA1403119535 | TF | c.1486+5G= (n.1486+5G=) c.156+5G= c.1354+5G= (n.1354+5G=) c.1105+5G= (n.1105+5G=) | |
3 | g.133766440G>A | CA546290764 | TF | c.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 |
3 | g.133766440G= | CA1403119536 | TF | c.1486+7G= (n.1486+7G=) c.156+7G= c.1354+7G= (n.1354+7G=) c.1105+7G= (n.1105+7G=) | |
3 | g.133766441A= | CA1403119538 | TF | c.1486+8A= (n.1486+8A=) c.156+8A= c.1354+8A= (n.1354+8A=) c.1105+8A= (n.1105+8A=) | |
3 | g.133766442A= | CA1403119540 | TF | c.1486+9A= (n.1486+9A=) c.156+9A= c.1354+9A= (n.1354+9A=) c.1105+9A= (n.1105+9A=) | |
3 | g.133766442A>T | CA546290765 | TF | c.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 |
3 | g.133766444_133766445dup | CA2625311 | TF | c.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 |
3 | g.133766444A>G | CA2577907328 | TF | c.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 |
3 | g.133766447G>C | CA2758478542 | TF | c.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) | |
3 | g.133766449del | CA2577907329 | TF | c.1486+16del (n.1486+16del) c.156+16del c.1354+16del (n.1354+16del) c.1105+16del (n.1105+16del) | |
3 | g.133766449G= | CA1403119543 | TF | c.1486+16G= (n.1486+16G=) c.156+16G= c.1354+16G= (n.1354+16G=) c.1105+16G= (n.1105+16G=) | |
3 | g.133766449G>T | CA1403119544 | TF | c.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 |
3 | g.133766452G>A | CA2667768578 | TF | c.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 |
3 | g.133766453G>C | CA2667768580 | TF | c.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 |
3 | g.133766454A= | CA1403119545 | TF | c.1486+21A= (n.1486+21A=) c.156+21A= c.1354+21A= (n.1354+21A=) c.1105+21A= (n.1105+21A=) | |
3 | g.133766454A>G | CA546290766 | TF | c.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 |
3 | g.133766456G>C | CA2667768584 | TF | c.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 |
3 | g.133766456G>T | CA2667768588 | TF | c.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 |
3 | g.133766457G>A | CA899126011 | TF | c.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 |
3 | g.133766457G= | CA1403119547 | TF | c.1486+24G= (n.1486+24G=) c.156+24G= c.1354+24G= (n.1354+24G=) c.1105+24G= (n.1105+24G=) | |
3 | g.133766457G>T | CA2843476331 | TF | c.1486+24G>T (n.1486+24G>T) c.156+24G>T c.1354+24G>T (n.1354+24G>T) c.1105+24G>T (n.1105+24G>T) | |
3 | g.133766460G>A | CA899126016 | TF | c.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 |
3 | g.133766460G= | CA1403119550 | TF | c.1486+27G= (n.1486+27G=) c.156+27G= c.1354+27G= (n.1354+27G=) c.1105+27G= (n.1105+27G=) | |
3 | g.133766461G>C | CA2577907330 | TF | c.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 |
3 | g.133766462T>C | CA2625312 | TF | c.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 |
3 | g.133766462T= | CA1403119554 | TF | c.1486+29T= (n.1486+29T=) c.156+29T= c.1354+29T= (n.1354+29T=) c.1105+29T= (n.1105+29T=) | |
3 | g.133766463G>A | CA2625313 | TF | c.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 |
3 | g.133766463G= | CA1403119557 | TF | c.1486+30G= (n.1486+30G=) c.156+30G= c.1354+30G= (n.1354+30G=) c.1105+30G= (n.1105+30G=) | |
3 | g.133766463G>T | CA2667768596 | TF | c.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 |
3 | g.133766465G>A | CA546290767 | TF | c.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 |
3 | g.133766465G>C | CA2577907331 | TF | c.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) | |
3 | g.133766465G= | CA1403119561 | TF | c.1486+32G= (n.1486+32G=) c.156+32G= c.1354+32G= (n.1354+32G=) c.1105+32G= (n.1105+32G=) | |
3 | g.133766466G>A | CA546290768 | TF | c.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 |
3 | g.133766466G= | CA1403119564 | TF | c.1486+33G= (n.1486+33G=) c.156+33G= c.1354+33G= (n.1354+33G=) c.1105+33G= (n.1105+33G=) | |
3 | g.133766467G>A | CA658789391 | TF | c.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) | |
3 | g.133766467G>T | CA2667768603 | TF | c.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 |
3 | g.133766468C>A | CA2667768604 | TF | c.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 |
3 | g.133766470A= | CA1403119566 | TF | c.1486+37A= (n.1486+37A=) c.156+37A= c.1354+37A= (n.1354+37A=) c.1105+37A= (n.1105+37A=) | |
3 | g.133766470A>C | CA2838882419 | TF | c.1486+37A>C (n.1486+37A>C) c.156+37A>C c.1354+37A>C (n.1354+37A>C) c.1105+37A>C (n.1105+37A>C) | |
3 | g.133766470A>G | CA2625314 | TF | c.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 |
3 | g.133766471T>C | CA2577907332 | TF | c.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) | |
3 | g.133766472G>A | CA2843476333 | TF | c.1486+39G>A (n.1486+39G>A) c.156+39G>A c.1354+39G>A (n.1354+39G>A) c.1105+39G>A (n.1105+39G>A) | |
3 | g.133766472G>T | CA2843476332 | TF | c.1486+39G>T (n.1486+39G>T) c.156+39G>T c.1354+39G>T (n.1354+39G>T) c.1105+39G>T (n.1105+39G>T) | |
3 | g.133766473C= | CA1403119569 | TF | c.1486+40C= (n.1486+40C=) c.156+40C= c.1354+40C= (n.1354+40C=) c.1105+40C= (n.1105+40C=) | |
3 | g.133766473C>T | CA2625315 | TF | c.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 |
3 | g.133766473_133766474insTTTCTGGCATGGCCCT | CA2843476334 | TF | c.1486+40_1486+41insTTTCTGGCATGGCCCT (n.1486+40_1486+41insTTTCTGGCATGGCCCT) c.156+40_156+41insTTTCTGGCATGGCCCT c.1354+40_1354+41insTTTCTGGCATGGCCCT (n.1354+40_1354+41insTTTCTGGCATGGCCCT) c.1105+40_1105+41insTTTCTGGCATGGCCCT (n.1105+40_1105+41insTTTCTGGCATGGCCCT) | |
3 | g.133766474C>A | CA2577907333 | TF | c.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) | |
3 | g.133766479del | CA2667768607 | TF | c.1486+46del (n.1486+46del) c.156+46del c.1354+46del (n.1354+46del) c.1105+46del (n.1105+46del) | gnomAD v4 |