| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32398489A>T | CA026350 | BRCA2 | c.*499A>T (n.*499A>T) c.*1343A>T (n.*1343A>T) c.9607A>T (p.Lys3203Ter) c.*1538A>T (n.*1538A>T) c.9925A>T (p.Lys3309Ter) c.2392A>T (p.Lys798Ter) n.2103A>T c.9976A>T (p.Lys3326Ter) c.9984A>T (n.9984A>T) c.9880A>T (p.Lys3294Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398489A= | CA2082836301 | BRCA2 | c.*499A= (n.*499A=) c.*1343A= (n.*1343A=) c.9607A= (p.Lys3203=) c.*1538A= (n.*1538A=) c.9925A= (p.Lys3309=) c.2392A= (p.Lys798=) n.2103A= c.9976A= (p.Lys3326=) c.9984A= (n.9984A=) c.9880A= (p.Lys3294=) | dbSNP |