| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32376732C>T | CA025783 | BRCA2 | c.8695C>T (p.Gln2899Ter) c.*62C>T (n.*62C>T) c.8326C>T (p.Gln2776Ter) c.*257C>T (n.*257C>T) c.1162C>T (p.Gln388Ter) n.822C>T c.8703C>T (n.8703C>T) c.1573C>T c.257C>T (n.257C>T) c.8599C>T (p.Gln2867Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32376732C>A | CA387754828 | BRCA2 | c.8695C>A (p.Gln2899Lys) c.*62C>A (n.*62C>A) c.8326C>A (p.Gln2776Lys) c.*257C>A (n.*257C>A) c.1162C>A (p.Gln388Lys) n.822C>A c.8703C>A (n.8703C>A) c.1573C>A c.257C>A (n.257C>A) c.8599C>A (p.Gln2867Lys) | dbSNP |
| 13 | g.32376732C>G | CA387754830 | BRCA2 | c.8695C>G (p.Gln2899Glu) c.*62C>G (n.*62C>G) c.8326C>G (p.Gln2776Glu) c.*257C>G (n.*257C>G) c.1162C>G (p.Gln388Glu) n.822C>G c.8703C>G (n.8703C>G) c.1573C>G c.257C>G (n.257C>G) c.8599C>G (p.Gln2867Glu) | dbSNP |