| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543699C>A | CA500217225 | NAGLU | c.1693C>A (p.Arg565=) c.1031C>A (n.1031C>A) c.862C>A (p.Arg288=) c.694C>A (p.Arg232=) c.1750C>A (p.Arg584=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543699C>T | CA115050 | NAGLU | c.1693C>T (p.Arg565Trp) c.1031C>T (n.1031C>T) c.862C>T (p.Arg288Trp) c.694C>T (p.Arg232Trp) c.1750C>T (p.Arg584Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |