| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43057122A>C | CA003358 | BRCA1 | c.5204T>G (p.Val1735Gly) c.5207T>G (p.Val1736Gly) c.5081T>G (p.Val1694Gly) c.5201T>G (p.Val1734Gly) c.5129T>G (p.Val1710Gly) c.1895T>G (p.Val632Gly) c.1757T>G (p.Val586Gly) c.4319T>G (p.Val1440Gly) c.5084T>G (p.Val1695Gly) c.5273T>G (p.Val1758Gly) c.5066T>G (p.Val1689Gly) c.1769T>G (p.Val590Gly) c.5270T>G (p.Val1757Gly) c.1594T>G c.1781T>G (p.Val594Gly) c.*4990T>G (n.*4990T>G) c.137T>G (p.Val46Gly) c.680T>G (p.Val227Gly) c.-98-6932T>G (n.-98-6932T>G) n.5343T>G n.5384T>G | ClinVar dbSNP |
| 17 | g.43057122A>G | CA003357 | BRCA1 | c.5204T>C (p.Val1735Ala) c.5207T>C (p.Val1736Ala) c.5081T>C (p.Val1694Ala) c.5201T>C (p.Val1734Ala) c.5129T>C (p.Val1710Ala) c.1895T>C (p.Val632Ala) c.1757T>C (p.Val586Ala) c.4319T>C (p.Val1440Ala) c.5084T>C (p.Val1695Ala) c.5273T>C (p.Val1758Ala) c.5066T>C (p.Val1689Ala) c.1769T>C (p.Val590Ala) c.5270T>C (p.Val1757Ala) c.1594T>C c.1781T>C (p.Val594Ala) c.*4990T>C (n.*4990T>C) c.137T>C (p.Val46Ala) c.680T>C (p.Val227Ala) c.-98-6932T>C (n.-98-6932T>C) n.5343T>C n.5384T>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.43057122A>T | CA10591121 | BRCA1 | c.5204T>A (p.Val1735Asp) c.5207T>A (p.Val1736Asp) c.5081T>A (p.Val1694Asp) c.5201T>A (p.Val1734Asp) c.5129T>A (p.Val1710Asp) c.1895T>A (p.Val632Asp) c.1757T>A (p.Val586Asp) c.4319T>A (p.Val1440Asp) c.5084T>A (p.Val1695Asp) c.5273T>A (p.Val1758Asp) c.5066T>A (p.Val1689Asp) c.1769T>A (p.Val590Asp) c.5270T>A (p.Val1757Asp) c.1594T>A c.1781T>A (p.Val594Asp) c.*4990T>A (n.*4990T>A) c.137T>A (p.Val46Asp) c.680T>A (p.Val227Asp) c.-98-6932T>A (n.-98-6932T>A) n.5343T>A n.5384T>A | ClinVar dbSNP |