Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32341000C>G | CA024254 | BRCA2 | c.6645C>G (p.Tyr2215Ter) c.6276C>G (p.Tyr2092Ter) n.6645C>G | ClinVar dbSNP |
13 | g.32341000C>A | CA387790368 | BRCA2 | c.6645C>A (p.Tyr2215Ter) c.6276C>A (p.Tyr2092Ter) n.6645C>A | ClinVar dbSNP |
13 | g.32341000C>T | CA483439355 | BRCA2 | c.6645C>T (p.Tyr2215=) c.6276C>T (p.Tyr2092=) n.6645C>T | ClinVar dbSNP gnomAD v4 |