| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543934G>A | CA250027 | NAGLU | c.1928G>A (p.Arg643His) c.1266G>A (n.1266G>A) c.1097G>A (p.Arg366His) c.929G>A (p.Arg310His) c.1985G>A (p.Arg662His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543934G= | CA2260530530 | NAGLU | c.1928G= (p.Arg643=) c.1266G= (n.1266G=) c.1097G= (p.Arg366=) c.929G= (p.Arg310=) c.1985G= (p.Arg662=) | dbSNP |