| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625213G>A | CA116001 | ARSA | c.1462C>T (p.Gln488Ter) c.1204C>T (p.Gln402Ter) c.180+150C>T c.*195C>T (n.*195C>T) c.1576C>T (p.Gln526Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625213G= | CA2410958364 | ARSA | c.1462C= (p.Gln488=) c.1204C= (p.Gln402=) c.180+150C= c.*195C= (n.*195C=) c.1576C= (p.Gln526=) | dbSNP |