| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.42931047G>T | CA318412 | SLC2A1 | c.274C>A (p.Arg92=) n.297C>A n.723C>A c.178C>A (p.Arg60=) n.491C>A c.79C>A (p.Arg27=) c.173C>A n.482C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.42931047G>A | CA019118 | SLC2A1 | c.274C>T (p.Arg92Trp) n.297C>T n.723C>T c.178C>T (p.Arg60Trp) n.491C>T c.79C>T (p.Arg27Trp) c.173C>T n.482C>T | ClinVar dbSNP |