| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42909364C>T | CA8587596 | G6PC1 | c.508C>T (p.Arg170Ter) c.447-1551C>T (n.447-1551C>T) c.431C>T (p.Thr144Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42909364C= | CA2260696652 | G6PC1 | c.508C= (p.Arg170=) c.447-1551C= (n.447-1551C=) c.431C= (p.Thr144=) | dbSNP |