| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69035939dup | CA193369163 | FXN | c.157dup (p.Arg53ProfsTer?) c.157dup (p.Arg53ProfsTer5) c.155dup c.157dup (p.Arg53ProfsTer6) | dbSNP |
| 9 | g.69035939del | CA10575483 | FXN | c.157del (p.Arg53AlafsTer23) c.157del (p.Arg53AlafsTer14) c.155del c.157del (p.Arg53AlafsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |