| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408948A>G | CA224789 | OTC | c.790A>G (p.Thr264Ala) c.*540A>G (n.*540A>G) c.172-257173A>G (n.172-257173A>G) | ClinVar dbSNP |
| X | g.38408948A= | CA2424884361 | OTC | c.790A= (p.Thr264=) c.*540A= (n.*540A=) c.172-257173A= (n.172-257173A=) | dbSNP |