| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54902412C>G | CA389793788 | GCH1 | c.252G>C (p.Glu84Asp) n.400G>C n.35G>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.54902412C>T | CA486482461 | GCH1 | c.252G>A (p.Glu84=) n.400G>A n.35G>A | ClinVar dbSNP |
| 14 | g.54902412C= | CA2138251493 | GCH1 | c.252G= (p.Glu84=) n.400G= n.35G= | dbSNP |