| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408922A>C | CA224772 | OTC | c.764A>C (p.His255Pro) c.*514A>C (n.*514A>C) c.172-257199A>C (n.172-257199A>C) | ClinVar dbSNP |
| X | g.38408922A>G | CA10385939 | OTC | c.764A>G (p.His255Arg) c.*514A>G (n.*514A>G) c.172-257199A>G (n.172-257199A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |