| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69053193T>C | CA193385325 | FXN | c.92T>C (p.Leu31Ser) c.317T>C (p.Leu106Ser) c.165+17246T>C (n.165+17246T>C) c.315T>C c.263+6711T>C (n.263+6711T>C) c.*42T>C (n.*42T>C) c.76+6711T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69053193T>G | CA252961 | FXN | c.92T>G (p.Leu31Ter) c.317T>G (p.Leu106Ter) c.165+17246T>G (n.165+17246T>G) c.315T>G c.263+6711T>G (n.263+6711T>G) c.*42T>G (n.*42T>G) c.76+6711T>G | ClinVar dbSNP |
| 9 | g.69053193T= | CA1854042872 | FXN | c.92T= (p.Leu31=) c.317T= (p.Leu106=) c.165+17246T= (n.165+17246T=) c.315T= c.263+6711T= (n.263+6711T=) c.*42T= (n.*42T=) c.76+6711T= | dbSNP |