| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43063881G>C | CA003268 | BRCA1 | c.5142C>G (p.Ser1714Arg) c.5145C>G (p.Ser1715Arg) c.5019C>G (p.Ser1673Arg) c.5139C>G (p.Ser1713Arg) c.5067C>G (p.Ser1689Arg) c.1833C>G (p.Ser611Arg) c.1695C>G (p.Ser565Arg) c.4257C>G (p.Ser1419Arg) c.5022C>G (p.Ser1674Arg) c.5211C>G (p.Ser1737Arg) c.5004C>G (p.Ser1668Arg) c.1707C>G (p.Ser569Arg) c.5208C>G (p.Ser1736Arg) c.1532C>G c.1719C>G (p.Ser573Arg) c.*4928C>G (n.*4928C>G) c.1458C>G (p.Ser486Arg) c.75C>G (p.Ser25Arg) c.618C>G (p.Ser206Arg) c.-98-13691C>G (n.-98-13691C>G) n.5281C>G n.5322C>G | ClinVar dbSNP |
| 17 | g.43063881G>A | CA500146139 | BRCA1 | c.5142C>T (p.Ser1714=) c.5145C>T (p.Ser1715=) c.5019C>T (p.Ser1673=) c.5139C>T (p.Ser1713=) c.5067C>T (p.Ser1689=) c.1833C>T (p.Ser611=) c.1695C>T (p.Ser565=) c.4257C>T (p.Ser1419=) c.5022C>T (p.Ser1674=) c.5211C>T (p.Ser1737=) c.5004C>T (p.Ser1668=) c.1707C>T (p.Ser569=) c.5208C>T (p.Ser1736=) c.1532C>T c.1719C>T (p.Ser573=) c.*4928C>T (n.*4928C>T) c.1458C>T (p.Ser486=) c.75C>T (p.Ser25=) c.618C>T (p.Ser206=) c.-98-13691C>T (n.-98-13691C>T) n.5281C>T n.5322C>T | ClinVar dbSNP |
| 17 | g.43063881G>T | CA003267 | BRCA1 | c.5142C>A (p.Ser1714Arg) c.5145C>A (p.Ser1715Arg) c.5019C>A (p.Ser1673Arg) c.5139C>A (p.Ser1713Arg) c.5067C>A (p.Ser1689Arg) c.1833C>A (p.Ser611Arg) c.1695C>A (p.Ser565Arg) c.4257C>A (p.Ser1419Arg) c.5022C>A (p.Ser1674Arg) c.5211C>A (p.Ser1737Arg) c.5004C>A (p.Ser1668Arg) c.1707C>A (p.Ser569Arg) c.5208C>A (p.Ser1736Arg) c.1532C>A c.1719C>A (p.Ser573Arg) c.*4928C>A (n.*4928C>A) c.1458C>A (p.Ser486Arg) c.75C>A (p.Ser25Arg) c.618C>A (p.Ser206Arg) c.-98-13691C>A (n.-98-13691C>A) n.5281C>A n.5322C>A | ClinVar dbSNP |