| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543882C>G | CA8577109 | NAGLU | c.1876C>G (p.Arg626Gly) c.1214C>G (n.1214C>G) c.1045C>G (p.Arg349Gly) c.877C>G (p.Arg293Gly) c.1933C>G (p.Arg645Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543882C>T | CA115043 | NAGLU | c.1876C>T (p.Arg626Ter) c.1214C>T (n.1214C>T) c.1045C>T (p.Arg349Ter) c.877C>T (p.Arg293Ter) c.1933C>T (p.Arg645Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |