Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.133766376G>A | CA2625298 | TF | c.1429G>A (p.Ala477Thr) c.99G>A c.1297G>A (p.Ala433Thr) c.1048G>A (p.Ala350Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133766376G>C | CA122567 | TF | c.1429G>C (p.Ala477Pro) c.99G>C c.1297G>C (p.Ala433Pro) c.1048G>C (p.Ala350Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.133766376G= | CA1403119434 | TF | c.1429G= (p.Ala477=) c.99G= c.1297G= (p.Ala433=) c.1048G= (p.Ala350=) | |
3 | g.133766376G>T | CA354608721 | TF | c.1429G>T (p.Ala477Ser) c.99G>T c.1297G>T (p.Ala433Ser) c.1048G>T (p.Ala350Ser) | dbSNP gnomAD v4 |
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=) |