| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50627007C>T | CA115981 | ARSA | c.511G>A (p.Asp171Asn) c.253G>A (p.Asp85Asn) n.1015G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627007C>A | CA10324990 | ARSA | c.511G>T (p.Asp171Tyr) c.253G>T (p.Asp85Tyr) n.1015G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627007C= | CA2410959358 | ARSA | c.511G= (p.Asp171=) c.253G= (p.Asp85=) n.1015G= | dbSNP |