Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32336943del | CA2082809665 | BRCA2 | c.2588del (p.Asn863IlefsTer11) c.2219del (p.Asn740IlefsTer11) n.2588del | ClinVar dbSNP gnomAD v4 |
13 | g.32336943dup | CA015689 | BRCA2 | c.2588dup (p.Asn863LysfsTer18) c.2219dup (p.Asn740LysfsTer18) n.2588dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |