| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.42930742C>A | CA339960859 | SLC2A1 | c.400G>T (p.Gly134Cys) n.423G>T n.849G>T c.304G>T (p.Gly102Cys) c.279G>T (n.279G>T) c.299G>T n.608G>T | ClinVar dbSNP |
| 1 | g.42930742C>T | CA16043369 | SLC2A1 | c.400G>A (p.Gly134Ser) n.423G>A n.849G>A c.304G>A (p.Gly102Ser) c.279G>A (n.279G>A) c.299G>A n.608G>A | ClinVar dbSNP |
| 1 | g.42930742C= | CA1165412778 | SLC2A1 | c.400G= (p.Gly134=) n.423G= n.849G= c.304G= (p.Gly102=) c.279G= (n.279G=) c.299G= n.608G= | dbSNP |