| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54844099T>G | CA389787137 | GCH1 | c.671A>C (p.Lys224Thr) n.819A>C n.293-1045A>C c.627-1045A>C (n.627-1045A>C) c.627-230A>C (n.627-230A>C) c.377A>C (p.Lys126Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.54844099T>C | CA120280 | GCH1 | c.671A>G (p.Lys224Arg) n.819A>G n.293-1045A>G c.627-1045A>G (n.627-1045A>G) c.627-230A>G (n.627-230A>G) c.377A>G (p.Lys126Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |