| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61808757dup | CA658823909 | BRIP1 | c.125dup (p.Gly43TrpfsTer5) c.632dup (p.Gly212TrpfsTer5) n.2373dup c.149dup (p.Gly51TrpfsTer5) c.89dup (p.Gly31TrpfsTer5) | ClinVar dbSNP |
| 17 | g.61808757del | CA16615824 | BRIP1 | c.125del (p.Pro42LeufsTer?) c.632del (p.Pro211LeufsTer?) n.2373del c.149del (p.Pro50LeufsTer?) c.89del (p.Pro30LeufsTer?) | ClinVar dbSNP gnomAD v4 |