| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38403670A>T | CA224697 | OTC | c.593A>T (p.Asn198Ile) c.*343A>T (n.*343A>T) c.172-262451A>T (n.172-262451A>T) | ClinVar dbSNP |
| X | g.38403670A>G | CA412725470 | OTC | c.593A>G (p.Asn198Ser) c.*343A>G (n.*343A>G) c.172-262451A>G (n.172-262451A>G) | ClinVar dbSNP |
| X | g.38403670A= | CA2424882716 | OTC | c.593A= (p.Asn198=) c.*343A= (n.*343A=) c.172-262451A= (n.172-262451A=) | dbSNP |