| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38369826G>C | CA224518 | OTC | c.247G>C (p.Gly83Arg) c.172-296295G>C (n.172-296295G>C) n.339G>C | ClinVar dbSNP |
| X | g.38369826G>A | CA412716893 | OTC | c.247G>A (p.Gly83Ser) c.172-296295G>A (n.172-296295G>A) n.339G>A | dbSNP |
| X | g.38369826G= | CA2424871669 | OTC | c.247G= (p.Gly83=) c.172-296295G= (n.172-296295G=) n.339G= | dbSNP |