| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.8813057A>C | CA146027 | PMM2 | n.3758A>C c.590A>C (p.Glu197Ala) c.*208A>C (n.*208A>C) c.*212A>C (n.*212A>C) c.*130A>C (n.*130A>C) c.*486A>C (n.*486A>C) c.*312A>C (n.*312A>C) c.557A>C c.509A>C (p.Glu170Ala) c.317A>C (p.Glu106Ala) c.*48A>C (n.*48A>C) c.341A>C (p.Glu114Ala) c.215A>C (p.Glu72Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.8813057A= | CA2206136739 | PMM2 | n.3758A= c.590A= (p.Glu197=) c.*208A= (n.*208A=) c.*212A= (n.*212A=) c.*130A= (n.*130A=) c.*486A= (n.*486A=) c.*312A= (n.*312A=) c.557A= c.509A= (p.Glu170=) c.317A= (p.Glu106=) c.*48A= (n.*48A=) c.341A= (p.Glu114=) c.215A= (p.Glu72=) | dbSNP |