| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625611G>C | CA146668 | ARSA | c.1178C>G (p.Thr393Ser) c.920C>G (p.Thr307Ser) c.46C>G c.1108-147C>G (n.1108-147C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625611G= | CA2410958577 | ARSA | c.1178C= (p.Thr393=) c.920C= (p.Thr307=) c.46C= c.1108-147C= (n.1108-147C=) | dbSNP |