| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42537517G>A | CA220553 | NAGLU | c.503G>A (p.Trp168Ter) c.134-822G>A c.191G>A (p.Trp64Ter) c.127-822G>A (n.127-822G>A) c.-240G>A (n.-240G>A) c.560G>A (p.Trp187Ter) | ClinVar dbSNP |
| 17 | g.42537517G>C | CA399598249 | NAGLU | c.503G>C (p.Trp168Ser) c.134-822G>C c.191G>C (p.Trp64Ser) c.127-822G>C (n.127-822G>C) c.-240G>C (n.-240G>C) c.560G>C (p.Trp187Ser) | ClinVar dbSNP gnomAD v4 |