Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.69035783A>C | CA193368857 | FXN | c.1A>C (p.Met1Leu) | dbSNP |
9 | g.69035783A>G | CA373527232 | FXN | c.1A>G (p.Met1Val) | dbSNP gnomAD v4 |
9 | g.69035783A>T | CA373527231 | FXN | c.1A>T (p.Met1Leu) | dbSNP gnomAD v2 gnomAD v4 |