| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625614C>T | CA218988 | ARSA | c.1175G>A (p.Arg392Gln) c.917G>A (p.Arg306Gln) c.43G>A c.1108-150G>A (n.1108-150G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625614C>A | CA10324802 | ARSA | c.1175G>T (p.Arg392Leu) c.917G>T (p.Arg306Leu) c.43G>T c.1108-150G>T (n.1108-150G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |