Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32336579C>A | CA014659 | BRCA2 | c.2224C>A (p.Gln742Lys) c.1855C>A (p.Gln619Lys) n.2224C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32336579C>G | CA387770696 | BRCA2 | c.2224C>G (p.Gln742Glu) c.1855C>G (p.Gln619Glu) n.2224C>G | ClinVar dbSNP gnomAD v2 |
13 | g.32336579C>T | CA014670 | BRCA2 | c.2224C>T (p.Gln742Ter) c.1855C>T (p.Gln619Ter) n.2224C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |