| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543933C>A | CA399605509 | NAGLU | c.1927C>A (p.Arg643Ser) c.1265C>A (n.1265C>A) c.1096C>A (p.Arg366Ser) c.928C>A (p.Arg310Ser) c.1984C>A (p.Arg662Ser) | dbSNP |
| 17 | g.42543933C>T | CA115048 | NAGLU | c.1927C>T (p.Arg643Cys) c.1265C>T (n.1265C>T) c.1096C>T (p.Arg366Cys) c.928C>T (p.Arg310Cys) c.1984C>T (p.Arg662Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543933C= | CA2260530529 | NAGLU | c.1927C= (p.Arg643=) c.1265C= (n.1265C=) c.1096C= (p.Arg366=) c.928C= (p.Arg310=) c.1984C= (p.Arg662=) | dbSNP |