| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626052C>T | CA412172524 | ARSA | c.991G>A (p.Glu331Lys) c.733G>A (p.Glu245Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626052C>A | CA278427 | ARSA | c.991G>T (p.Glu331Ter) c.733G>T (p.Glu245Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626052C= | CA2410958811 | ARSA | c.991G= (p.Glu331=) c.733G= (p.Glu245=) | dbSNP |