| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543568C>T | CA115049 | NAGLU | c.1562C>T (p.Pro521Leu) c.900C>T (n.900C>T) c.731C>T (p.Pro244Leu) c.563C>T (p.Pro188Leu) c.1619C>T (p.Pro540Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543568C= | CA2260530353 | NAGLU | c.1562C= (p.Pro521=) c.900C= (n.900C=) c.731C= (p.Pro244=) c.563C= (p.Pro188=) c.1619C= (p.Pro540=) | dbSNP |