| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.42931049C>T | CA019112 | SLC2A1 | c.272G>A (p.Gly91Asp) n.295G>A n.721G>A c.176G>A (p.Gly59Asp) n.489G>A c.77G>A (p.Gly26Asp) c.171G>A n.480G>A | ClinVar dbSNP |
| 1 | g.42931049C= | CA1141188990 | SLC2A1 | c.272G= (p.Gly91=) n.295G= n.721G= c.176G= (p.Gly59=) n.489G= c.77G= (p.Gly26=) c.171G= n.480G= | dbSNP |