Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340037C>T | CA022966 | BRCA2 | c.5682C>T (p.Tyr1894=) c.5313C>T (p.Tyr1771=) n.5682C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340037C>G | CA022962 | BRCA2 | c.5682C>G (p.Tyr1894Ter) c.5313C>G (p.Tyr1771Ter) n.5682C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340037C>A | CA022957 | BRCA2 | c.5682C>A (p.Tyr1894Ter) c.5313C>A (p.Tyr1771Ter) n.5682C>A | ClinVar dbSNP gnomAD v4 |