| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38367335A>T | CA10605721 | OTC | c.122A>T (p.Asp41Val) c.172-298786A>T (n.172-298786A>T) n.214A>T | ClinVar dbSNP |
| X | g.38367335A>G | CA224455 | OTC | c.122A>G (p.Asp41Gly) c.172-298786A>G (n.172-298786A>G) n.214A>G | ClinVar dbSNP |
| X | g.38367335A= | CA2424870807 | OTC | c.122A= (p.Asp41=) c.172-298786A= (n.172-298786A=) n.214A= | dbSNP |