| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543450C>T | CA115054 | NAGLU | c.1444C>T (p.Arg482Trp) c.782C>T (n.782C>T) c.483C>T c.613C>T (p.Arg205Trp) c.445C>T (p.Arg149Trp) c.1501C>T (p.Arg501Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543450C>A | CA500216961 | NAGLU | c.1444C>A (p.Arg482=) c.782C>A (n.782C>A) c.483C>A c.613C>A (p.Arg205=) c.445C>A (p.Arg149=) c.1501C>A (p.Arg501=) | ClinVar dbSNP gnomAD v4 |