| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625615G>C | CA10324803 | ARSA | c.1174C>G (p.Arg392Gly) c.916C>G (p.Arg306Gly) c.42C>G c.1108-151C>G (n.1108-151C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625615G>A | CA278038 | ARSA | c.1174C>T (p.Arg392Trp) c.916C>T (p.Arg306Trp) c.42C>T c.1108-151C>T (n.1108-151C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |