| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69065016T>C | CA193393082 | FXN | c.238T>C (p.Trp80Arg) c.463T>C (p.Trp155Arg) c.384+11756T>C (n.384+11756T>C) c.165+29069T>C (n.165+29069T>C) c.461T>C c.*66T>C (n.*66T>C) c.*188T>C (n.*188T>C) c.155T>C | dbSNP gnomAD v4 |
| 9 | g.69065016T= | CA1854051948 | FXN | c.238T= (p.Trp80=) c.463T= (p.Trp155=) c.384+11756T= (n.384+11756T=) c.165+29069T= (n.165+29069T=) c.461T= c.*66T= (n.*66T=) c.*188T= (n.*188T=) c.155T= | dbSNP |