| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38403705A>C | CA224718 | OTC | c.628A>C (p.Lys210Gln) c.*378A>C (n.*378A>C) c.172-262416A>C (n.172-262416A>C) | ClinVar dbSNP |
| X | g.38403705A>G | CA412725769 | OTC | c.628A>G (p.Lys210Glu) c.*378A>G (n.*378A>G) c.172-262416A>G (n.172-262416A>G) | ClinVar dbSNP |
| X | g.38403705A= | CA2424882737 | OTC | c.628A= (p.Lys210=) c.*378A= (n.*378A=) c.172-262416A= (n.172-262416A=) | dbSNP |