| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54902522G>A | CA254727 | GCH1 | c.142C>T (p.Gln48Ter) n.290C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.54902522G>T | CA389794184 | GCH1 | c.142C>A (p.Gln48Lys) n.290C>A | dbSNP |
| 14 | g.54902522G= | CA2138251553 | GCH1 | c.142C= (p.Gln48=) n.290C= | dbSNP |