| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32370533dup | CA025655 | BRCA2 | c.8463dup (p.Ile2822TyrfsTer23) c.8094dup (p.Ile2699TyrfsTer23) c.930dup (p.Ile311TyrfsTer23) c.8471dup (n.8471dup) c.1028dup c.8367dup (p.Ile2790TyrfsTer23) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32370533del | CA025656 | BRCA2 | c.8463del (p.Ile2822PhefsTer?) c.8094del (p.Ile2699PhefsTer?) c.930del (p.Ile311PhefsTer?) c.8471del (n.8471del) c.1028del c.8367del (p.Ile2790PhefsTer?) | ClinVar dbSNP |