| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38352697A>G | CA224494 | OTC | c.1A>G (p.Met1Val) c.172-313424A>G (n.172-313424A>G) n.93A>G | ClinVar dbSNP |
| X | g.38352697A>T | CA224496 | OTC | c.1A>T (p.Met1Leu) c.172-313424A>T (n.172-313424A>T) n.93A>T | ClinVar dbSNP |
| X | g.38352697A= | CA2424866373 | OTC | c.1A= (p.Met1=) c.172-313424A= (n.172-313424A=) n.93A= | dbSNP |