| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32337190del | CA016557 | BRCA2 | c.2835del (p.Asp946IlefsTer14) c.2466del (p.Asp823IlefsTer14) n.2835del | ClinVar dbSNP |
| 13 | g.32337189_32337190del | CA016544 | BRCA2 | c.2834_2835del (p.Lys945ArgfsTer13) c.2465_2466del (p.Lys822ArgfsTer13) n.2834_2835del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337188_32337190del | CA609453773 | BRCA2 | c.2833_2835del (p.Lys945del) c.2464_2466del (p.Lys822del) n.2833_2835del | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337190dup | CA10579553 | BRCA2 | c.2835dup (p.Asp946ArgfsTer13) c.2466dup (p.Asp823ArgfsTer13) n.2835dup | ClinVar dbSNP |