| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625396G>T | CA116013 | ARSA | c.1279C>A (p.Pro427Thr) c.1021C>A (p.Pro341Thr) c.147C>A c.*12C>A (n.*12C>A) c.1393C>A (p.Pro465Thr) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625396G>A | CA412168917 | ARSA | c.1279C>T (p.Pro427Ser) c.1021C>T (p.Pro341Ser) c.147C>T c.*12C>T (n.*12C>T) c.1393C>T (p.Pro465Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625396G= | CA2410958458 | ARSA | c.1279C= (p.Pro427=) c.1021C= (p.Pro341=) c.147C= c.*12C= (n.*12C=) c.1393C= (p.Pro465=) | dbSNP |