| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38369853C>T | CA224530 | OTC | c.274C>T (p.Arg92Ter) c.172-296268C>T (n.172-296268C>T) n.353+13C>T | ClinVar dbSNP |
| X | g.38369853C>G | CA224528 | OTC | c.274C>G (p.Arg92Gly) c.172-296268C>G (n.172-296268C>G) n.353+13C>G | ClinVar dbSNP |
| X | g.38369853C= | CA2424871684 | OTC | c.274C= (p.Arg92=) c.172-296268C= (n.172-296268C=) n.353+13C= | dbSNP |