| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42909407G>A | CA256188 | G6PC1 | c.551G>A (p.Gly184Glu) c.447-1508G>A (n.447-1508G>A) c.474G>A (p.Trp158Ter) | ClinVar dbSNP |
| 17 | g.42909407G>T | CA16043527 | G6PC1 | c.551G>T (p.Gly184Val) c.447-1508G>T (n.447-1508G>T) c.474G>T (p.Trp158Cys) | ClinVar dbSNP |
| 17 | g.42909407G= | CA2260696670 | G6PC1 | c.551G= (p.Gly184=) c.447-1508G= (n.447-1508G=) c.474G= (p.Trp158=) | dbSNP |