| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625674C>T | CA115993 | ARSA | c.1115G>A (p.Arg372Gln) c.857G>A (p.Arg286Gln) c.1108-210G>A (n.1108-210G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625674C>G | CA233475 | ARSA | c.1115G>C (p.Arg372Pro) c.857G>C (p.Arg286Pro) c.1108-210G>C (n.1108-210G>C) | ClinVar dbSNP |