Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43071077T>A | CA003045 | BRCA1 | c.4834A>T (p.Ser1612Cys) c.4837A>T (p.Ser1613Cys) c.4711A>T (p.Ser1571Cys) c.4831A>T (p.Ser1611Cys) c.4759A>T (p.Ser1587Cys) c.1525A>T (p.Ser509Cys) c.1387A>T (p.Ser463Cys) c.3949A>T (p.Ser1317Cys) c.4714A>T (p.Ser1572Cys) c.4903A>T (p.Ser1635Cys) c.4696A>T (p.Ser1566Cys) c.1399A>T (p.Ser467Cys) c.1444A>T (p.Ser482Cys) c.4900A>T (p.Ser1634Cys) c.1224A>T c.1411A>T (p.Ser471Cys) c.*4620A>T (n.*4620A>T) c.1150A>T (p.Ser384Cys) c.5-7126A>T (n.5-7126A>T) c.310A>T (p.Ser104Cys) c.-98-20887A>T (n.-98-20887A>T) n.4973A>T n.5014A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43071077T>G | CA10591849 | BRCA1 | c.4834A>C (p.Ser1612Arg) c.4837A>C (p.Ser1613Arg) c.4711A>C (p.Ser1571Arg) c.4831A>C (p.Ser1611Arg) c.4759A>C (p.Ser1587Arg) c.1525A>C (p.Ser509Arg) c.1387A>C (p.Ser463Arg) c.3949A>C (p.Ser1317Arg) c.4714A>C (p.Ser1572Arg) c.4903A>C (p.Ser1635Arg) c.4696A>C (p.Ser1566Arg) c.1399A>C (p.Ser467Arg) c.1444A>C (p.Ser482Arg) c.4900A>C (p.Ser1634Arg) c.1224A>C c.1411A>C (p.Ser471Arg) c.*4620A>C (n.*4620A>C) c.1150A>C (p.Ser384Arg) c.5-7126A>C (n.5-7126A>C) c.310A>C (p.Ser104Arg) c.-98-20887A>C (n.-98-20887A>C) n.4973A>C n.5014A>C | ClinVar dbSNP |
17 | g.43071077T>C | CA003044 | BRCA1 | c.4834A>G (p.Ser1612Gly) c.4837A>G (p.Ser1613Gly) c.4711A>G (p.Ser1571Gly) c.4831A>G (p.Ser1611Gly) c.4759A>G (p.Ser1587Gly) c.1525A>G (p.Ser509Gly) c.1387A>G (p.Ser463Gly) c.3949A>G (p.Ser1317Gly) c.4714A>G (p.Ser1572Gly) c.4903A>G (p.Ser1635Gly) c.4696A>G (p.Ser1566Gly) c.1399A>G (p.Ser467Gly) c.1444A>G (p.Ser482Gly) c.4900A>G (p.Ser1634Gly) c.1224A>G c.1411A>G (p.Ser471Gly) c.*4620A>G (n.*4620A>G) c.1150A>G (p.Ser384Gly) c.5-7126A>G (n.5-7126A>G) c.310A>G (p.Ser104Gly) c.-98-20887A>G (n.-98-20887A>G) n.4973A>G n.5014A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |