| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1004393A>T | CA353725 | IDUA | c.1962A>T (p.Ter654Cys) n.2018A>T c.1566A>T (p.Ter522Cys) n.2073A>T n.2054A>T c.2028A>T (p.Ter676Cys) c.1821A>T (p.Ter607Cys) c.1755A>T (p.Ter585Cys) c.1674A>T (p.Ter558Cys) n.2222A>T c.1002A>T (p.Ter334Cys) | ClinVar dbSNP |
| 4 | g.1004393A>G | CA2802487 | IDUA | c.1962A>G (p.Ter654Trp) n.2018A>G c.1566A>G (p.Ter522Trp) n.2073A>G n.2054A>G c.2028A>G (p.Ter676Trp) c.1821A>G (p.Ter607Trp) c.1755A>G (p.Ter585Trp) c.1674A>G (p.Ter558Trp) n.2222A>G c.1002A>G (p.Ter334Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1004393A= | CA1433073276 | IDUA | c.1962A= (p.Ter654=) n.2018A= c.1566A= (p.Ter522=) n.2073A= n.2054A= c.2028A= (p.Ter676=) c.1821A= (p.Ter607=) c.1755A= (p.Ter585=) c.1674A= (p.Ter558=) n.2222A= c.1002A= (p.Ter334=) | dbSNP |