| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42911391C>G | CA8587703 | G6PC1 | c.1039C>G (p.Gln347Glu) c.*431C>G (n.*431C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911391C>T | CA256179 | G6PC1 | c.1039C>T (p.Gln347Ter) c.*431C>T (n.*431C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911391C= | CA2260697519 | G6PC1 | c.1039C= (p.Gln347=) c.*431C= (n.*431C=) | dbSNP |