| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.170998299A>T | CA020003 | SLC2A2 | c.1268T>A (p.Val423Glu) c.*735T>A (n.*735T>A) c.911T>A (p.Val304Glu) c.749T>A (p.Val250Glu) c.1223T>A (p.Val408Glu) c.1049T>A (p.Val350Glu) | ClinVar dbSNP |
| 3 | g.170998299A= | CA1420161889 | SLC2A2 | c.1268T= (p.Val423=) c.*735T= (n.*735T=) c.911T= (p.Val304=) c.749T= (p.Val250=) c.1223T= (p.Val408=) c.1049T= (p.Val350=) | dbSNP |
| 3 | g.170998299A>G | CA355485875 | SLC2A2 | c.1268T>C (p.Val423Ala) c.*735T>C (n.*735T>C) c.911T>C (p.Val304Ala) c.749T>C (p.Val250Ala) c.1223T>C (p.Val408Ala) c.1049T>C (p.Val350Ala) | dbSNP gnomAD v4 |