| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42544027G>T | CA399605893 | NAGLU | c.2021G>T (p.Arg674Leu) c.1359G>T (n.1359G>T) c.1190G>T (p.Arg397Leu) c.1022G>T (p.Arg341Leu) c.2078G>T (p.Arg693Leu) | ClinVar dbSNP |
| 17 | g.42544027G>A | CA115042 | NAGLU | c.2021G>A (p.Arg674His) c.1359G>A (n.1359G>A) c.1190G>A (p.Arg397His) c.1022G>A (p.Arg341His) c.2078G>A (p.Arg693His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |