| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32338947_32338948del | CA913188588 | BRCA2 | c.4592_4593del (p.Lys1531SerfsTer2) c.4223_4224del (p.Lys1408SerfsTer2) n.4592_4593del | ClinVar dbSNP |
| 13 | g.32338948dup | CA020508 | BRCA2 | c.4593dup (p.Val1532SerfsTer2) c.4224dup (p.Val1409SerfsTer2) n.4593dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.32338948del | CA020516 | BRCA2 | c.4593del (p.Val1532LeufsTer11) c.4224del (p.Val1409LeufsTer11) n.4593del | ClinVar dbSNP COSMIC COSMIC |