| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95150018del | CA16618886 | AOPEP,FANCC | n.3218del n.986del c.595del (p.Leu199TrpfsTer25) c.740del (n.740del) n.310del n.20del c.522-14512del (n.522-14512del) c.139del (p.Leu47TrpfsTer25) c.66-14512del (n.66-14512del) | ClinVar dbSNP |
| 9 | g.95150018dup | CA16044126 | AOPEP,FANCC | n.3218dup n.986dup c.595dup (p.Leu199ProfsTer12) c.740dup (n.740dup) n.310dup n.20dup c.522-14512dup (n.522-14512dup) c.139dup (p.Leu47ProfsTer12) c.66-14512dup (n.66-14512dup) | ClinVar dbSNP gnomAD v4 |