| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42909353T>C | CA399654872 | G6PC1 | c.497T>C (p.Val166Ala) c.447-1562T>C (n.447-1562T>C) c.420T>C (p.Cys140=) | ClinVar dbSNP |
| 17 | g.42909353T>G | CA256192 | G6PC1 | c.497T>G (p.Val166Gly) c.447-1562T>G (n.447-1562T>G) c.420T>G (p.Cys140Trp) | ClinVar dbSNP |
| 17 | g.42909353T= | CA2260696646 | G6PC1 | c.497T= (p.Val166=) c.447-1562T= (n.447-1562T=) c.420T= (p.Cys140=) | dbSNP |