| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43063885A>T | CA10591260 | BRCA1 | c.5138T>A (p.Val1713Asp) c.5141T>A (p.Val1714Asp) c.5015T>A (p.Val1672Asp) c.5135T>A (p.Val1712Asp) c.5063T>A (p.Val1688Asp) c.1829T>A (p.Val610Asp) c.1691T>A (p.Val564Asp) c.4253T>A (p.Val1418Asp) c.5018T>A (p.Val1673Asp) c.5207T>A (p.Val1736Asp) c.5000T>A (p.Val1667Asp) c.1703T>A (p.Val568Asp) c.5204T>A (p.Val1735Asp) c.1528T>A c.1715T>A (p.Val572Asp) c.*4924T>A (n.*4924T>A) c.1454T>A (p.Val485Asp) c.71T>A (p.Val24Asp) c.614T>A (p.Val205Asp) c.-98-13695T>A (n.-98-13695T>A) n.5277T>A n.5318T>A | ClinVar dbSNP |
| 17 | g.43063885A>G | CA10591259 | BRCA1 | c.5138T>C (p.Val1713Ala) c.5141T>C (p.Val1714Ala) c.5015T>C (p.Val1672Ala) c.5135T>C (p.Val1712Ala) c.5063T>C (p.Val1688Ala) c.1829T>C (p.Val610Ala) c.1691T>C (p.Val564Ala) c.4253T>C (p.Val1418Ala) c.5018T>C (p.Val1673Ala) c.5207T>C (p.Val1736Ala) c.5000T>C (p.Val1667Ala) c.1703T>C (p.Val568Ala) c.5204T>C (p.Val1735Ala) c.1528T>C c.1715T>C (p.Val572Ala) c.*4924T>C (n.*4924T>C) c.1454T>C (p.Val485Ala) c.71T>C (p.Val24Ala) c.614T>C (p.Val205Ala) c.-98-13695T>C (n.-98-13695T>C) n.5277T>C n.5318T>C | ClinVar dbSNP |
| 17 | g.43063885A>C | CA003263 | BRCA1 | c.5138T>G (p.Val1713Gly) c.5141T>G (p.Val1714Gly) c.5015T>G (p.Val1672Gly) c.5135T>G (p.Val1712Gly) c.5063T>G (p.Val1688Gly) c.1829T>G (p.Val610Gly) c.1691T>G (p.Val564Gly) c.4253T>G (p.Val1418Gly) c.5018T>G (p.Val1673Gly) c.5207T>G (p.Val1736Gly) c.5000T>G (p.Val1667Gly) c.1703T>G (p.Val568Gly) c.5204T>G (p.Val1735Gly) c.1528T>G c.1715T>G (p.Val572Gly) c.*4924T>G (n.*4924T>G) c.1454T>G (p.Val485Gly) c.71T>G (p.Val24Gly) c.614T>G (p.Val205Gly) c.-98-13695T>G (n.-98-13695T>G) n.5277T>G n.5318T>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43063885A= | CA2260769500 | BRCA1 | c.5138T= (p.Val1713=) c.5141T= (p.Val1714=) c.5015T= (p.Val1672=) c.5135T= (p.Val1712=) c.5063T= (p.Val1688=) c.1829T= (p.Val610=) c.1691T= (p.Val564=) c.4253T= (p.Val1418=) c.5018T= (p.Val1673=) c.5207T= (p.Val1736=) c.5000T= (p.Val1667=) c.1703T= (p.Val568=) c.5204T= (p.Val1735=) c.1528T= c.1715T= (p.Val572=) c.*4924T= (n.*4924T=) c.1454T= (p.Val485=) c.71T= (p.Val24=) c.614T= (p.Val205=) c.-98-13695T= (n.-98-13695T=) n.5277T= n.5318T= | dbSNP |