| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95101742G>T | CA466092057 | AOPEP,FANCC | n.410+20962G>T n.2457C>A c.1642C>A (p.Arg548=) c.1787C>A (n.1787C>A) c.961C>A (p.Arg321=) c.1477C>A (p.Arg493=) c.1186C>A (p.Arg396=) c.2319+20962G>T (n.2319+20962G>T) c.1021C>A (p.Arg341=) | dbSNP |
| 9 | g.95101742G>A | CA284826 | AOPEP,FANCC | n.410+20962G>A n.2457C>T c.1642C>T (p.Arg548Ter) c.1787C>T (n.1787C>T) c.961C>T (p.Arg321Ter) c.1477C>T (p.Arg493Ter) c.1186C>T (p.Arg396Ter) c.2319+20962G>A (n.2319+20962G>A) c.1021C>T (p.Arg341Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |