| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.42930766G>A | CA019162 | SLC2A1 | c.376C>T (p.Arg126Cys) n.399C>T n.825C>T c.280C>T (p.Arg94Cys) c.255C>T (n.255C>T) c.275C>T n.584C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.42930766G= | CA1141188986 | SLC2A1 | c.376C= (p.Arg126=) n.399C= n.825C= c.280C= (p.Arg94=) c.255C= (n.255C=) c.275C= n.584C= | dbSNP |