| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43049168A>G | CA10590748 | BRCA1 | c.5356T>C (p.Cys1786Arg) c.5359T>C (p.Cys1787Arg) c.5233T>C (p.Cys1745Arg) c.5353T>C (p.Cys1785Arg) c.5281T>C (p.Cys1761Arg) c.2047T>C (p.Cys683Arg) c.1909T>C (p.Cys637Arg) c.4471T>C (p.Cys1491Arg) c.5236T>C (p.Cys1746Arg) c.5425T>C (p.Cys1809Arg) c.5218T>C (p.Cys1740Arg) c.1921T>C (p.Cys641Arg) n.1242T>C c.5422T>C (p.Cys1808Arg) c.1746T>C c.1933T>C (p.Cys645Arg) c.*5142T>C (n.*5142T>C) c.2021-1465T>C (n.2021-1465T>C) c.289T>C (p.Cys97Arg) c.832T>C (p.Cys278Arg) c.58T>C (p.Cys20Arg) n.5495T>C n.5536T>C | ClinVar dbSNP |
| 17 | g.43049168A>T | CA003525 | BRCA1 | c.5356T>A (p.Cys1786Ser) c.5359T>A (p.Cys1787Ser) c.5233T>A (p.Cys1745Ser) c.5353T>A (p.Cys1785Ser) c.5281T>A (p.Cys1761Ser) c.2047T>A (p.Cys683Ser) c.1909T>A (p.Cys637Ser) c.4471T>A (p.Cys1491Ser) c.5236T>A (p.Cys1746Ser) c.5425T>A (p.Cys1809Ser) c.5218T>A (p.Cys1740Ser) c.1921T>A (p.Cys641Ser) n.1242T>A c.5422T>A (p.Cys1808Ser) c.1746T>A c.1933T>A (p.Cys645Ser) c.*5142T>A (n.*5142T>A) c.2021-1465T>A (n.2021-1465T>A) c.289T>A (p.Cys97Ser) c.832T>A (p.Cys278Ser) c.58T>A (p.Cys20Ser) n.5495T>A n.5536T>A | ClinVar dbSNP |
| 17 | g.43049168A>C | CA10590747 | BRCA1 | c.5356T>G (p.Cys1786Gly) c.5359T>G (p.Cys1787Gly) c.5233T>G (p.Cys1745Gly) c.5353T>G (p.Cys1785Gly) c.5281T>G (p.Cys1761Gly) c.2047T>G (p.Cys683Gly) c.1909T>G (p.Cys637Gly) c.4471T>G (p.Cys1491Gly) c.5236T>G (p.Cys1746Gly) c.5425T>G (p.Cys1809Gly) c.5218T>G (p.Cys1740Gly) c.1921T>G (p.Cys641Gly) n.1242T>G c.5422T>G (p.Cys1808Gly) c.1746T>G c.1933T>G (p.Cys645Gly) c.*5142T>G (n.*5142T>G) c.2021-1465T>G (n.2021-1465T>G) c.289T>G (p.Cys97Gly) c.832T>G (p.Cys278Gly) c.58T>G (p.Cys20Gly) n.5495T>G n.5536T>G | ClinVar dbSNP |