| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42911161G>T | CA341569 | G6PC1 | c.809G>T (p.Gly270Val) c.*201G>T (n.*201G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911161G= | CA2260697419 | G6PC1 | c.809G= (p.Gly270=) c.*201G= (n.*201G=) | dbSNP |
| 17 | g.42911161G>A | CA399656394 | G6PC1 | c.809G>A (p.Gly270Asp) c.*201G>A (n.*201G>A) | ClinVar dbSNP |