| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42541074C>T | CA115045 | NAGLU | c.889C>T (p.Arg297Ter) c.491C>T c.360-1954C>T (n.360-1954C>T) c.58C>T (p.Arg20Ter) c.23-1954C>T (n.23-1954C>T) c.946C>T (p.Arg316Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42541074C= | CA2260529146 | NAGLU | c.889C= (p.Arg297=) c.491C= c.360-1954C= (n.360-1954C=) c.58C= (p.Arg20=) c.23-1954C= (n.23-1954C=) c.946C= (p.Arg316=) | dbSNP |