| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69053230C>G | CA193385376 | FXN | c.129C>G (p.Tyr43Ter) c.354C>G (p.Tyr118Ter) c.165+17283C>G (n.165+17283C>G) c.352C>G c.263+6748C>G (n.263+6748C>G) c.*79C>G (n.*79C>G) c.76+6748C>G | dbSNP |
| 9 | g.69053230C= | CA1854042891 | FXN | c.129C= (p.Tyr43=) c.354C= (p.Tyr118=) c.165+17283C= (n.165+17283C=) c.352C= c.263+6748C= (n.263+6748C=) c.*79C= (n.*79C=) c.76+6748C= | dbSNP |