Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32339317T>A | CA16043338 | BRCA2 | c.4962T>A (p.Cys1654Ter) c.4593T>A (p.Cys1531Ter) n.4962T>A | ClinVar dbSNP |
13 | g.32339317T>G | CA387783791 | BRCA2 | c.4962T>G (p.Cys1654Trp) c.4593T>G (p.Cys1531Trp) n.4962T>G | dbSNP |
13 | g.32339317T= | CA2082817580 | BRCA2 | c.4962T= (p.Cys1654=) c.4593T= (p.Cys1531=) n.4962T= | dbSNP |