| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32398747A>G | CA010536 | BRCA2 | c.*757A>G (n.*757A>G) c.*1601A>G (n.*1601A>G) c.9865A>G (p.Ile3289Val) c.*1796A>G (n.*1796A>G) c.10183A>G (p.Ile3395Val) c.2650A>G (p.Ile884Val) n.2361A>G c.10234A>G (p.Ile3412Val) c.10242A>G (n.10242A>G) c.10138A>G (p.Ile3380Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398747A= | CA2018046973 | BRCA2 | c.*757A= (n.*757A=) c.*1601A= (n.*1601A=) c.9865A= (p.Ile3289=) c.*1796A= (n.*1796A=) c.10183A= (p.Ile3395=) c.2650A= (p.Ile884=) n.2361A= c.10234A= (p.Ile3412=) c.10242A= (n.10242A=) c.10138A= (p.Ile3380=) | dbSNP |