Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43063883T>C | CA10591258 | BRCA1 | c.5140A>G (p.Ser1714Gly) c.5143A>G (p.Ser1715Gly) c.5017A>G (p.Ser1673Gly) c.5137A>G (p.Ser1713Gly) c.5065A>G (p.Ser1689Gly) c.1831A>G (p.Ser611Gly) c.1693A>G (p.Ser565Gly) c.4255A>G (p.Ser1419Gly) c.5020A>G (p.Ser1674Gly) c.5209A>G (p.Ser1737Gly) c.5002A>G (p.Ser1668Gly) c.1705A>G (p.Ser569Gly) c.5206A>G (p.Ser1736Gly) c.1530A>G c.1717A>G (p.Ser573Gly) c.*4926A>G (n.*4926A>G) c.1456A>G (p.Ser486Gly) c.73A>G (p.Ser25Gly) c.616A>G (p.Ser206Gly) c.-98-13693A>G (n.-98-13693A>G) n.5279A>G n.5320A>G | ClinVar dbSNP |
17 | g.43063883T>G | CA003264 | BRCA1 | c.5140A>C (p.Ser1714Arg) c.5143A>C (p.Ser1715Arg) c.5017A>C (p.Ser1673Arg) c.5137A>C (p.Ser1713Arg) c.5065A>C (p.Ser1689Arg) c.1831A>C (p.Ser611Arg) c.1693A>C (p.Ser565Arg) c.4255A>C (p.Ser1419Arg) c.5020A>C (p.Ser1674Arg) c.5209A>C (p.Ser1737Arg) c.5002A>C (p.Ser1668Arg) c.1705A>C (p.Ser569Arg) c.5206A>C (p.Ser1736Arg) c.1530A>C c.1717A>C (p.Ser573Arg) c.*4926A>C (n.*4926A>C) c.1456A>C (p.Ser486Arg) c.73A>C (p.Ser25Arg) c.616A>C (p.Ser206Arg) c.-98-13693A>C (n.-98-13693A>C) n.5279A>C n.5320A>C | ClinVar dbSNP |
17 | g.43063883T>A | CA003265 | BRCA1 | c.5140A>T (p.Ser1714Cys) c.5143A>T (p.Ser1715Cys) c.5017A>T (p.Ser1673Cys) c.5137A>T (p.Ser1713Cys) c.5065A>T (p.Ser1689Cys) c.1831A>T (p.Ser611Cys) c.1693A>T (p.Ser565Cys) c.4255A>T (p.Ser1419Cys) c.5020A>T (p.Ser1674Cys) c.5209A>T (p.Ser1737Cys) c.5002A>T (p.Ser1668Cys) c.1705A>T (p.Ser569Cys) c.5206A>T (p.Ser1736Cys) c.1530A>T c.1717A>T (p.Ser573Cys) c.*4926A>T (n.*4926A>T) c.1456A>T (p.Ser486Cys) c.73A>T (p.Ser25Cys) c.616A>T (p.Ser206Cys) c.-98-13693A>T (n.-98-13693A>T) n.5279A>T n.5320A>T | ClinVar dbSNP |