| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69065018G>A | CA193393085 | FXN | c.240G>A (p.Trp80Ter) c.465G>A (p.Trp155Ter) c.384+11758G>A (n.384+11758G>A) c.165+29071G>A (n.165+29071G>A) c.463G>A c.*68G>A (n.*68G>A) c.*190G>A (n.*190G>A) c.157G>A | dbSNP |
| 9 | g.69065018G= | CA1854051954 | FXN | c.240G= (p.Trp80=) c.465G= (p.Trp155=) c.384+11758G= (n.384+11758G=) c.165+29071G= (n.165+29071G=) c.463G= c.*68G= (n.*68G=) c.*190G= (n.*190G=) c.157G= | dbSNP |