| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32376714C>T | CA025776 | BRCA2 | c.8677C>T (p.Gln2893Ter) c.*44C>T (n.*44C>T) c.8308C>T (p.Gln2770Ter) c.*239C>T (n.*239C>T) c.1144C>T (p.Gln382Ter) n.804C>T c.8685C>T (n.8685C>T) c.1555C>T c.239C>T (n.239C>T) c.8581C>T (p.Gln2861Ter) | ClinVar dbSNP |
| 13 | g.32376714C>G | CA387754757 | BRCA2 | c.8677C>G (p.Gln2893Glu) c.*44C>G (n.*44C>G) c.8308C>G (p.Gln2770Glu) c.*239C>G (n.*239C>G) c.1144C>G (p.Gln382Glu) n.804C>G c.8685C>G (n.8685C>G) c.1555C>G c.239C>G (n.239C>G) c.8581C>G (p.Gln2861Glu) | dbSNP |
| 13 | g.32376714C>A | CA387754756 | BRCA2 | c.8677C>A (p.Gln2893Lys) c.*44C>A (n.*44C>A) c.8308C>A (p.Gln2770Lys) c.*239C>A (n.*239C>A) c.1144C>A (p.Gln382Lys) n.804C>A c.8685C>A (n.8685C>A) c.1555C>A c.239C>A (n.239C>A) c.8581C>A (p.Gln2861Lys) | dbSNP |