Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32346896G>T | CA024720 | BRCA2 | c.7007G>T (p.Arg2336Leu) c.6638G>T (p.Arg2213Leu) n.7007G>T c.6911G>T (p.Arg2304Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32346896G>C | CA024716 | BRCA2 | c.7007G>C (p.Arg2336Pro) c.6638G>C (p.Arg2213Pro) n.7007G>C c.6911G>C (p.Arg2304Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32346896G>A | CA024713 | BRCA2 | c.7007G>A (p.Arg2336His) c.6638G>A (p.Arg2213His) n.7007G>A c.6911G>A (p.Arg2304His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |