| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42901037A>G | CA399650967 | G6PC1 | c.161A>G (p.Gln54Arg) n.226A>G | dbSNP gnomAD v4 |
| 17 | g.42901037A>C | CA16041843 | G6PC1 | c.161A>C (p.Gln54Pro) n.226A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42901037A= | CA2260692902 | G6PC1 | c.161A= (p.Gln54=) n.226A= | dbSNP |