| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32380142del | CA026054 | BRCA2 | c.9253del (p.Thr3085GlnfsTer19) c.*620del (n.*620del) c.8884del (p.Thr2962GlnfsTer19) c.*815del (n.*815del) c.9253del (p.Thr3085GlnfsTer2) c.9202del (p.Thr3068GlnfsTer19) c.1669del (p.Thr557GlnfsTer19) n.1380del c.9261del (n.9261del) c.2131del c.136del (p.Thr46GlnfsTer2) c.210del c.9157del (p.Thr3053GlnfsTer19) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32380142dup | CA026052 | BRCA2 | c.9253dup (p.Thr3085AsnfsTer26) c.*620dup (n.*620dup) c.8884dup (p.Thr2962AsnfsTer26) c.*815dup (n.*815dup) c.9253dup (p.Thr3085AsnfsTer?) c.9202dup (p.Thr3068AsnfsTer26) c.1669dup (p.Thr557AsnfsTer26) n.1380dup c.9261dup (n.9261dup) c.2131dup c.136dup (p.Thr46AsnfsTer?) c.210dup c.9157dup (p.Thr3053AsnfsTer26) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |