| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.42930865G>T | CA417544185 | SLC2A1 | c.277C>A (p.Arg93=) n.300C>A n.726C>A c.181C>A (p.Arg61=) c.156C>A (n.156C>A) c.176C>A n.485C>A | ClinVar dbSNP |
| 1 | g.42930865G>A | CA019133 | SLC2A1 | c.277C>T (p.Arg93Trp) n.300C>T n.726C>T c.181C>T (p.Arg61Trp) c.156C>T (n.156C>T) c.176C>T n.485C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |