| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.156579109T>C | CA126187 | GPD2 | c.1904T>C (p.Phe635Ser) c.1526T>C (p.Phe509Ser) n.342T>C n.27T>C c.*18T>C (n.*18T>C) c.1802T>C (p.Phe601Ser) c.1223T>C (p.Phe408Ser) | ClinVar dbSNP |
| 2 | g.156579109T>A | CA348664731 | GPD2 | c.1904T>A (p.Phe635Tyr) c.1526T>A (p.Phe509Tyr) n.342T>A n.27T>A c.*18T>A (n.*18T>A) c.1802T>A (p.Phe601Tyr) c.1223T>A (p.Phe408Tyr) | dbSNP |