| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408967A>G | CA154208 | OTC | c.809A>G (p.Gln270Arg) c.*559A>G (n.*559A>G) c.172-257154A>G (n.172-257154A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38408967A>C | CA224803 | OTC | c.809A>C (p.Gln270Pro) c.*559A>C (n.*559A>C) c.172-257154A>C (n.172-257154A>C) | ClinVar dbSNP |