| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42911321C>A | CA273945 | G6PC1 | c.969C>A (p.Tyr323Ter) c.*361C>A (n.*361C>A) | ClinVar dbSNP ExAC gnomAD v4 |
| 17 | g.42911321C>T | CA8587686 | G6PC1 | c.969C>T (p.Tyr323=) c.*361C>T (n.*361C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911321C= | CA2260697489 | G6PC1 | c.969C= (p.Tyr323=) c.*361C= (n.*361C=) | dbSNP |