| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54845787C>T | CA16606864 | GCH1 | c.607G>A (p.Gly203Arg) n.755G>A n.293-2733G>A c.313G>A (p.Gly105Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.54845787C= | CA2138218961 | GCH1 | c.607G= (p.Gly203=) n.755G= n.293-2733G= c.313G= (p.Gly105=) | dbSNP |