| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69035900C>T | CA10587675 | FXN | c.118C>T (p.Arg40Cys) c.116C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035900C= | CA1854034987 | FXN | c.118C= (p.Arg40=) c.116C= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69035900C>T | CA10587675 | FXN | c.118C>T (p.Arg40Cys) c.116C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035900C= | CA1854034987 | FXN | c.118C= (p.Arg40=) c.116C= | dbSNP |