| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625653G>A | CA115995 | ARSA | c.1136C>T (p.Pro379Leu) c.878C>T (p.Pro293Leu) c.4C>T c.1108-189C>T (n.1108-189C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625653G>T | CA10324808 | ARSA | c.1136C>A (p.Pro379Gln) c.878C>A (p.Pro293Gln) c.4C>A c.1108-189C>A (n.1108-189C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625653G= | CA2410958600 | ARSA | c.1136C= (p.Pro379=) c.878C= (p.Pro293=) c.4C= c.1108-189C= (n.1108-189C=) | dbSNP |