| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50627261C>G | CA412180784 | ARSA | c.370G>C (p.Gly124Arg) c.112G>C (p.Gly38Arg) n.761G>C | dbSNP gnomAD v4 |
| 22 | g.50627261C>A | CA325531581 | ARSA | c.370G>T (p.Gly124Cys) c.112G>T (p.Gly38Cys) n.761G>T | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627261C>T | CA220987 | ARSA | c.370G>A (p.Gly124Ser) c.112G>A (p.Gly38Ser) n.761G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |