| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.42930724C>T | CA16042396 | SLC2A1 | c.418G>A (p.Val140Met) n.441G>A n.867G>A c.322G>A (p.Val108Met) c.297G>A (n.297G>A) c.317G>A n.626G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.42930724C>G | CA339960777 | SLC2A1 | c.418G>C (p.Val140Leu) n.441G>C n.867G>C c.322G>C (p.Val108Leu) c.297G>C (n.297G>C) c.317G>C n.626G>C | ClinVar dbSNP |