| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54844137C>T | CA120282 | GCH1 | c.633G>A (p.Met211Ile) n.781G>A n.293-1083G>A c.627-1083G>A (n.627-1083G>A) c.627-268G>A (n.627-268G>A) c.339G>A (p.Met113Ile) | ClinVar dbSNP |
| 14 | g.54844137C= | CA2138218218 | GCH1 | c.633G= (p.Met211=) n.781G= n.293-1083G= c.627-1083G= (n.627-1083G=) c.627-268G= (n.627-268G=) c.339G= (p.Met113=) | dbSNP |