Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32356473G>A | CA025110 | BRCA2 | c.7481G>A (p.Arg2494Gln) c.7112G>A (p.Arg2371Gln) c.46G>A n.7481G>A c.7385G>A (p.Arg2462Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.32356473G>C | CA387743276 | BRCA2 | c.7481G>C (p.Arg2494Pro) c.7112G>C (p.Arg2371Pro) c.46G>C n.7481G>C c.7385G>C (p.Arg2462Pro) | dbSNP |
13 | g.32356473G>T | CA387743275 | BRCA2 | c.7481G>T (p.Arg2494Leu) c.7112G>T (p.Arg2371Leu) c.46G>T n.7481G>T c.7385G>T (p.Arg2462Leu) | dbSNP |