| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42909418G>A | CA321440 | G6PC1 | c.562G>A (p.Gly188Ser) c.447-1497G>A (n.447-1497G>A) c.485G>A (p.Arg162Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42909418G>C | CA256190 | G6PC1 | c.562G>C (p.Gly188Arg) c.447-1497G>C (n.447-1497G>C) c.485G>C (p.Arg162Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |