| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1002117C>T | CA256115 | IDUA | c.928C>T (p.Gln310Ter) n.984C>T c.532C>T (p.Gln178Ter) n.928C>T n.1016C>T c.887C>T (p.Thr296Ile) c.787C>T (p.Gln263Ter) c.721C>T (p.Gln241Ter) c.640C>T (p.Gln214Ter) n.997C>T c.-33C>T (n.-33C>T) | ClinVar dbSNP gnomAD v4 |
| 4 | g.1002117C= | CA1433068706 | IDUA | c.928C= (p.Gln310=) n.984C= c.532C= (p.Gln178=) n.928C= n.1016C= c.887C= (p.Thr296=) c.787C= (p.Gln263=) c.721C= (p.Gln241=) c.640C= (p.Gln214=) n.997C= c.-33C= (n.-33C=) | dbSNP |