| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42536416C>T | CA500215951 | NAGLU | c.144C>T (p.Phe48=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536416C>G | CA399595410 | NAGLU | c.144C>G (p.Phe48Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536416C>A | CA290771267 | NAGLU | c.144C>A (p.Phe48Leu) | ClinVar dbSNP gnomAD v4 |