| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69053192_69053193del | CA588207371 | FXN | c.91_92del (p.Leu31SerfsTer5) c.316_317del (p.Leu106SerfsTer5) c.165+17245_165+17246del (n.165+17245_165+17246del) c.314_315del c.263+6710_263+6711del (n.263+6710_263+6711del) c.*41_*42del (n.*41_*42del) c.76+6710_76+6711del | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69053193del | CA193385321 | FXN | c.92del (p.Leu31Ter) c.317del (p.Leu106Ter) c.165+17246del (n.165+17246del) c.315del c.263+6711del (n.263+6711del) c.*42del (n.*42del) c.76+6711del | dbSNP |