| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.42931124G>A | CA21252454 | SLC2A1 | c.197C>T (p.Ser66Phe) n.220C>T n.646C>T c.101C>T (p.Ser34Phe) n.414C>T c.2C>T (p.Ser1Phe) c.96C>T n.405C>T | dbSNP |
| 1 | g.42931124G>T | CA339962070 | SLC2A1 | c.197C>A (p.Ser66Tyr) n.220C>A n.646C>A c.101C>A (p.Ser34Tyr) n.414C>A c.2C>A (p.Ser1Tyr) c.96C>A n.405C>A | ClinVar dbSNP |
| 1 | g.42931124G= | CA1141188991 | SLC2A1 | c.197C= (p.Ser66=) n.220C= n.646C= c.101C= (p.Ser34=) n.414C= c.2C= (p.Ser1=) c.96C= n.405C= | dbSNP |