| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42541125T>C | CA290778701 | NAGLU | c.940T>C (p.Phe314Leu) c.360-1903T>C (n.360-1903T>C) c.35T>C c.109T>C (p.Phe37Leu) c.23-1903T>C (n.23-1903T>C) c.997T>C (p.Phe333Leu) | dbSNP |
| 17 | g.42541125T>G | CA399600255 | NAGLU | c.940T>G (p.Phe314Val) c.360-1903T>G (n.360-1903T>G) c.35T>G c.109T>G (p.Phe37Val) c.23-1903T>G (n.23-1903T>G) c.997T>G (p.Phe333Val) | ClinVar dbSNP |