| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.8813030A>G | CA234697 | PMM2 | n.3731A>G c.563A>G (p.Asp188Gly) c.*181A>G (n.*181A>G) c.*185A>G (n.*185A>G) c.*103A>G (n.*103A>G) c.*459A>G (n.*459A>G) c.*285A>G (n.*285A>G) c.530A>G c.482A>G (p.Asp161Gly) c.290A>G (p.Asp97Gly) c.*21A>G (n.*21A>G) c.314A>G (p.Asp105Gly) c.188A>G (p.Asp63Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.8813030A= | CA2206136720 | PMM2 | n.3731A= c.563A= (p.Asp188=) c.*181A= (n.*181A=) c.*185A= (n.*185A=) c.*103A= (n.*103A=) c.*459A= (n.*459A=) c.*285A= (n.*285A=) c.530A= c.482A= (p.Asp161=) c.290A= (p.Asp97=) c.*21A= (n.*21A=) c.314A= (p.Asp105=) c.188A= (p.Asp63=) | dbSNP |