Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43063890C>A | CA10591269 | BRCA1 | c.5133G>T (p.Trp1711Cys) c.5136G>T (p.Trp1712Cys) c.5010G>T (p.Trp1670Cys) c.5130G>T (p.Trp1710Cys) c.5058G>T (p.Trp1686Cys) c.1824G>T (p.Trp608Cys) c.1686G>T (p.Trp562Cys) c.4248G>T (p.Trp1416Cys) c.5013G>T (p.Trp1671Cys) c.5202G>T (p.Trp1734Cys) c.4995G>T (p.Trp1665Cys) c.1698G>T (p.Trp566Cys) c.5199G>T (p.Trp1733Cys) c.1523G>T c.1710G>T (p.Trp570Cys) c.*4919G>T (n.*4919G>T) c.1449G>T (p.Trp483Cys) c.66G>T (p.Trp22Cys) c.609G>T (p.Trp203Cys) c.-98-13700G>T (n.-98-13700G>T) n.5272G>T n.5313G>T | ClinVar dbSNP |
17 | g.43063890C>G | CA10591270 | BRCA1 | c.5133G>C (p.Trp1711Cys) c.5136G>C (p.Trp1712Cys) c.5010G>C (p.Trp1670Cys) c.5130G>C (p.Trp1710Cys) c.5058G>C (p.Trp1686Cys) c.1824G>C (p.Trp608Cys) c.1686G>C (p.Trp562Cys) c.4248G>C (p.Trp1416Cys) c.5013G>C (p.Trp1671Cys) c.5202G>C (p.Trp1734Cys) c.4995G>C (p.Trp1665Cys) c.1698G>C (p.Trp566Cys) c.5199G>C (p.Trp1733Cys) c.1523G>C c.1710G>C (p.Trp570Cys) c.*4919G>C (n.*4919G>C) c.1449G>C (p.Trp483Cys) c.66G>C (p.Trp22Cys) c.609G>C (p.Trp203Cys) c.-98-13700G>C (n.-98-13700G>C) n.5272G>C n.5313G>C | ClinVar dbSNP |
17 | g.43063890C>T | CA003260 | BRCA1 | c.5133G>A (p.Trp1711Ter) c.5136G>A (p.Trp1712Ter) c.5010G>A (p.Trp1670Ter) c.5130G>A (p.Trp1710Ter) c.5058G>A (p.Trp1686Ter) c.1824G>A (p.Trp608Ter) c.1686G>A (p.Trp562Ter) c.4248G>A (p.Trp1416Ter) c.5013G>A (p.Trp1671Ter) c.5202G>A (p.Trp1734Ter) c.4995G>A (p.Trp1665Ter) c.1698G>A (p.Trp566Ter) c.5199G>A (p.Trp1733Ter) c.1523G>A c.1710G>A (p.Trp570Ter) c.*4919G>A (n.*4919G>A) c.1449G>A (p.Trp483Ter) c.66G>A (p.Trp22Ter) c.609G>A (p.Trp203Ter) c.-98-13700G>A (n.-98-13700G>A) n.5272G>A n.5313G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |