| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54902425C>T | CA7193654 | GCH1 | c.239G>A (p.Ser80Asn) n.387G>A n.22G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.54902425C= | CA2138251499 | GCH1 | c.239G= (p.Ser80=) n.387G= n.22G= | dbSNP |
| 14 | g.54902425C>G | CA389793832 | GCH1 | c.239G>C (p.Ser80Thr) n.387G>C n.22G>C | dbSNP |