| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1001528A>C | CA16618019 | IDUA | c.554A>C (p.His185Pro) n.610A>C c.413A>C (p.His138Pro) c.514A>C c.347A>C (p.His116Pro) c.371A>C (p.His124Pro) c.158A>C (p.His53Pro) n.454A>C n.642A>C c.266A>C (p.His89Pro) n.623A>C c.-435A>C (n.-435A>C) | ClinVar dbSNP |
| 4 | g.1001528A= | CA1433067413 | IDUA | c.554A= (p.His185=) n.610A= c.413A= (p.His138=) c.514A= c.347A= (p.His116=) c.371A= (p.His124=) c.158A= (p.His53=) n.454A= n.642A= c.266A= (p.His89=) n.623A= c.-435A= (n.-435A=) | dbSNP |
| 4 | g.1001528A>G | CA355961757 | IDUA | c.554A>G (p.His185Arg) n.610A>G c.413A>G (p.His138Arg) c.514A>G c.347A>G (p.His116Arg) c.371A>G (p.His124Arg) c.158A>G (p.His53Arg) n.454A>G n.642A>G c.266A>G (p.His89Arg) n.623A>G c.-435A>G (n.-435A>G) | dbSNP gnomAD v4 |