| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69064942G>C | CA5072744 | FXN | c.164G>C (p.Gly55Ala) c.389G>C (p.Gly130Ala) c.384+11682G>C (n.384+11682G>C) c.165+28995G>C (n.165+28995G>C) c.387G>C c.268G>C (p.Val90Leu) c.*114G>C (n.*114G>C) c.81G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.69064942G>T | CA252966 | FXN | c.164G>T (p.Gly55Val) c.389G>T (p.Gly130Val) c.384+11682G>T (n.384+11682G>T) c.165+28995G>T (n.165+28995G>T) c.387G>T c.268G>T (p.Val90Leu) c.*114G>T (n.*114G>T) c.81G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |