| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.170999069A>C | CA2702478 | SLC2A2 | c.1166T>G (p.Leu389Arg) c.*633T>G (n.*633T>G) c.809T>G (p.Leu270Arg) c.647T>G (p.Leu216Arg) c.1121T>G (p.Leu374Arg) c.947T>G (p.Leu316Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.170999069A>G | CA019988 | SLC2A2 | c.1166T>C (p.Leu389Pro) c.*633T>C (n.*633T>C) c.809T>C (p.Leu270Pro) c.647T>C (p.Leu216Pro) c.1121T>C (p.Leu374Pro) c.947T>C (p.Leu316Pro) | ClinVar dbSNP |