| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42909355dup | CA16041844 | G6PC1 | c.499dup (p.Cys167LeufsTer?) c.447-1560dup (n.447-1560dup) c.422dup (p.Ser142ValfsTer?) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.42909355T= | CA3223488235 | G6PC1 | c.499T= (p.Cys167=) c.447-1560T= (n.447-1560T=) c.422T= (p.Leu141=) | dbSNP |