| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43067616A>T | CA10591388 | BRCA1 | c.5063T>A (p.Met1688Lys) c.5066T>A (p.Met1689Lys) c.4940T>A (p.Met1647Lys) c.5060T>A (p.Met1687Lys) c.4988T>A (p.Met1663Lys) c.1754T>A (p.Met585Lys) c.1616T>A (p.Met539Lys) c.4178T>A (p.Met1393Lys) c.4943T>A (p.Met1648Lys) c.5132T>A (p.Met1711Lys) c.4925T>A (p.Met1642Lys) c.1628T>A (p.Met543Lys) c.5129T>A (p.Met1710Lys) c.1453T>A c.1640T>A (p.Met547Lys) c.*4849T>A (n.*4849T>A) n.219T>A c.1379T>A (p.Met460Lys) c.5-3665T>A (n.5-3665T>A) c.539T>A (p.Met180Lys) c.-98-17426T>A (n.-98-17426T>A) n.5202T>A n.5243T>A | ClinVar dbSNP |
| 17 | g.43067616A>C | CA003182 | BRCA1 | c.5063T>G (p.Met1688Arg) c.5066T>G (p.Met1689Arg) c.4940T>G (p.Met1647Arg) c.5060T>G (p.Met1687Arg) c.4988T>G (p.Met1663Arg) c.1754T>G (p.Met585Arg) c.1616T>G (p.Met539Arg) c.4178T>G (p.Met1393Arg) c.4943T>G (p.Met1648Arg) c.5132T>G (p.Met1711Arg) c.4925T>G (p.Met1642Arg) c.1628T>G (p.Met543Arg) c.5129T>G (p.Met1710Arg) c.1453T>G c.1640T>G (p.Met547Arg) c.*4849T>G (n.*4849T>G) n.219T>G c.1379T>G (p.Met460Arg) c.5-3665T>G (n.5-3665T>G) c.539T>G (p.Met180Arg) c.-98-17426T>G (n.-98-17426T>G) n.5202T>G n.5243T>G | ClinVar dbSNP |
| 17 | g.43067616A>G | CA003181 | BRCA1 | c.5063T>C (p.Met1688Thr) c.5066T>C (p.Met1689Thr) c.4940T>C (p.Met1647Thr) c.5060T>C (p.Met1687Thr) c.4988T>C (p.Met1663Thr) c.1754T>C (p.Met585Thr) c.1616T>C (p.Met539Thr) c.4178T>C (p.Met1393Thr) c.4943T>C (p.Met1648Thr) c.5132T>C (p.Met1711Thr) c.4925T>C (p.Met1642Thr) c.1628T>C (p.Met543Thr) c.5129T>C (p.Met1710Thr) c.1453T>C c.1640T>C (p.Met547Thr) c.*4849T>C (n.*4849T>C) n.219T>C c.1379T>C (p.Met460Thr) c.5-3665T>C (n.5-3665T>C) c.539T>C (p.Met180Thr) c.-98-17426T>C (n.-98-17426T>C) n.5202T>C n.5243T>C | ClinVar dbSNP gnomAD v4 |