Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32337651C>G | CA017733 | BRCA2 | c.3296C>G (p.Ser1099Ter) c.2927C>G (p.Ser976Ter) n.3296C>G | ClinVar dbSNP |
13 | g.32337651C>T | CA387776154 | BRCA2 | c.3296C>T (p.Ser1099Leu) c.2927C>T (p.Ser976Leu) n.3296C>T | ClinVar dbSNP |
13 | g.32337651C>A | CA017728 | BRCA2 | c.3296C>A (p.Ser1099Ter) c.2927C>A (p.Ser976Ter) n.3296C>A | ClinVar dbSNP gnomAD v4 |