| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42911000G>T | CA256183 | G6PC1 | c.648G>T (p.Leu216=) c.*40G>T (n.*40G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911000G>A | CA500104657 | G6PC1 | c.648G>A (p.Leu216=) c.*40G>A (n.*40G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911000G= | CA2260697350 | G6PC1 | c.648G= (p.Leu216=) c.*40G= (n.*40G=) | dbSNP |