| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69053240G>T | CA193385381 | FXN | c.139G>T (p.Asp47Tyr) c.364G>T (p.Asp122Tyr) c.165+17293G>T (n.165+17293G>T) c.362G>T c.263+6758G>T (n.263+6758G>T) c.*89G>T (n.*89G>T) c.76+6758G>T | dbSNP gnomAD v4 |
| 9 | g.69053240G= | CA1854042894 | FXN | c.139G= (p.Asp47=) c.364G= (p.Asp122=) c.165+17293G= (n.165+17293G=) c.362G= c.263+6758G= (n.263+6758G=) c.*89G= (n.*89G=) c.76+6758G= | dbSNP |