| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42911364G>A | CA8587698 | G6PC1 | c.1012G>A (p.Val338Ile) c.*404G>A (n.*404G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42911364G>T | CA274168 | G6PC1 | c.1012G>T (p.Val338Phe) c.*404G>T (n.*404G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |