| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69072646T>G | CA252970 | FXN | c.292T>G (p.Trp98Gly) c.517T>G (p.Trp173Gly) c.384+19386T>G (n.384+19386T>G) c.166-27255T>G (n.166-27255T>G) c.482+7611T>G (n.482+7611T>G) c.480+7611T>G c.*120T>G (n.*120T>G) c.*207+7611T>G (n.*207+7611T>G) c.*85+7611T>G (n.*85+7611T>G) c.525T>G (p.Thr175=) c.209T>G | ClinVar dbSNP |
| 9 | g.69072646T= | CA1854065142 | FXN | c.292T= (p.Trp98=) c.517T= (p.Trp173=) c.384+19386T= (n.384+19386T=) c.166-27255T= (n.166-27255T=) c.482+7611T= (n.482+7611T=) c.480+7611T= c.*120T= (n.*120T=) c.*207+7611T= (n.*207+7611T=) c.*85+7611T= (n.*85+7611T=) c.525T= (p.Thr175=) c.209T= | dbSNP |