| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69072677A>G | CA193982469 | FXN | c.323A>G (p.His108Arg) c.548A>G (p.His183Arg) c.384+19417A>G (n.384+19417A>G) c.166-27224A>G (n.166-27224A>G) c.482+7642A>G (n.482+7642A>G) c.480+7642A>G c.*151A>G (n.*151A>G) c.*207+7642A>G (n.*207+7642A>G) c.*85+7642A>G (n.*85+7642A>G) c.556A>G (p.Met186Val) c.240A>G | dbSNP COSMIC |
| 9 | g.69072677A>T | CA373623643 | FXN | c.323A>T (p.His108Leu) c.548A>T (p.His183Leu) c.384+19417A>T (n.384+19417A>T) c.166-27224A>T (n.166-27224A>T) c.482+7642A>T (n.482+7642A>T) c.480+7642A>T c.*151A>T (n.*151A>T) c.*207+7642A>T (n.*207+7642A>T) c.*85+7642A>T (n.*85+7642A>T) c.556A>T (p.Met186Leu) c.240A>T | dbSNP gnomAD v4 |