| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1001475C>T | CA2801968 | IDUA | c.501C>T (p.Tyr167=) n.557C>T c.360C>T (p.Tyr120=) c.461C>T c.294C>T (p.Tyr98=) c.318C>T (p.Tyr106=) c.105C>T (p.Tyr35=) n.401C>T n.589C>T c.213C>T (p.Tyr71=) n.570C>T c.-488C>T (n.-488C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1001475C>G | CA220511 | IDUA | c.501C>G (p.Tyr167Ter) n.557C>G c.360C>G (p.Tyr120Ter) c.461C>G c.294C>G (p.Tyr98Ter) c.318C>G (p.Tyr106Ter) c.105C>G (p.Tyr35Ter) n.401C>G n.589C>G c.213C>G (p.Tyr71Ter) n.570C>G c.-488C>G (n.-488C>G) | ClinVar dbSNP gnomAD v4 |