| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43045773C>G | CA10590314 | BRCA1 | c.5494G>C (p.Val1832Leu) c.5497G>C (p.Val1833Leu) c.5371G>C (p.Val1791Leu) c.5491G>C (p.Val1831Leu) c.5419G>C (p.Val1807Leu) c.2185G>C (p.Val729Leu) c.2047G>C (p.Val683Leu) c.4609G>C (p.Val1537Leu) c.5374G>C (p.Val1792Leu) c.5563G>C (p.Val1855Leu) c.5356G>C (p.Val1786Leu) c.2059G>C (p.Val687Leu) n.1380G>C n.861G>C c.5560G>C (p.Val1854Leu) c.1884G>C c.2071G>C (p.Val691Leu) c.*5280G>C (n.*5280G>C) c.*11G>C (n.*11G>C) c.427G>C (p.Val143Leu) c.970G>C (p.Val324Leu) c.196G>C (p.Val66Leu) n.5633G>C n.5674G>C | ClinVar dbSNP |
| 17 | g.43045773C>T | CA003667 | BRCA1 | c.5494G>A (p.Val1832Met) c.5497G>A (p.Val1833Met) c.5371G>A (p.Val1791Met) c.5491G>A (p.Val1831Met) c.5419G>A (p.Val1807Met) c.2185G>A (p.Val729Met) c.2047G>A (p.Val683Met) c.4609G>A (p.Val1537Met) c.5374G>A (p.Val1792Met) c.5563G>A (p.Val1855Met) c.5356G>A (p.Val1786Met) c.2059G>A (p.Val687Met) n.1380G>A n.861G>A c.5560G>A (p.Val1854Met) c.1884G>A c.2071G>A (p.Val691Met) c.*5280G>A (n.*5280G>A) c.*11G>A (n.*11G>A) c.427G>A (p.Val143Met) c.970G>A (p.Val324Met) c.196G>A (p.Val66Met) n.5633G>A n.5674G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |