| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1001497T>C | CA10576337 | IDUA | c.523T>C (p.Trp175Arg) n.579T>C c.382T>C (p.Trp128Arg) c.483T>C c.316T>C (p.Trp106Arg) c.340T>C (p.Trp114Arg) c.127T>C (p.Trp43Arg) n.423T>C n.611T>C c.235T>C (p.Trp79Arg) n.592T>C c.-466T>C (n.-466T>C) | ClinVar dbSNP |
| 4 | g.1001497T= | CA1433067318 | IDUA | c.523T= (p.Trp175=) n.579T= c.382T= (p.Trp128=) c.483T= c.316T= (p.Trp106=) c.340T= (p.Trp114=) c.127T= (p.Trp43=) n.423T= n.611T= c.235T= (p.Trp79=) n.592T= c.-466T= (n.-466T=) | dbSNP |