Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338071_32338072del | CA2499222144 | BRCA2 | c.3716_3717del (p.Lys1239ThrfsTer3) c.3347_3348del (p.Lys1116ThrfsTer3) n.3716_3717del | ClinVar dbSNP |
13 | g.32338072del | CA018654 | BRCA2 | c.3717del (p.Lys1239AsnfsTer20) c.3348del (p.Lys1116AsnfsTer20) n.3717del | ClinVar dbSNP gnomAD v4 |