| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1004391T>G | CA256121 | IDUA | c.1960T>G (p.Ter654Gly) n.2016T>G c.1564T>G (p.Ter522Gly) n.2071T>G n.2052T>G c.2026T>G (p.Ter676Gly) c.1819T>G (p.Ter607Gly) c.1753T>G (p.Ter585Gly) c.1672T>G (p.Ter558Gly) n.2220T>G c.1000T>G (p.Ter334Gly) | ClinVar dbSNP gnomAD v4 |
| 4 | g.1004391T>C | CA355966127 | IDUA | c.1960T>C (p.Ter654Arg) n.2016T>C c.1564T>C (p.Ter522Arg) n.2071T>C n.2052T>C c.2026T>C (p.Ter676Arg) c.1819T>C (p.Ter607Arg) c.1753T>C (p.Ter585Arg) c.1672T>C (p.Ter558Arg) n.2220T>C c.1000T>C (p.Ter334Arg) | ClinVar dbSNP |