Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32336731C>G | CA387771812 | BRCA2 | c.2376C>G (p.Tyr792Ter) c.2007C>G (p.Tyr669Ter) n.2376C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32336731C>A | CA015072 | BRCA2 | c.2376C>A (p.Tyr792Ter) c.2007C>A (p.Tyr669Ter) n.2376C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32336731C>T | CA483436904 | BRCA2 | c.2376C>T (p.Tyr792=) c.2007C>T (p.Tyr669=) n.2376C>T | ClinVar dbSNP gnomAD v4 |