| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408951T>C | CA224793 | OTC | c.793T>C (p.Trp265Arg) c.*543T>C (n.*543T>C) c.172-257170T>C (n.172-257170T>C) | ClinVar dbSNP |
| X | g.38408951T= | CA2424884363 | OTC | c.793T= (p.Trp265=) c.*543T= (n.*543T=) c.172-257170T= (n.172-257170T=) | dbSNP |