| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38411898C>G | CA412725805 | OTC | c.904C>G (p.His302Asp) c.*654C>G (n.*654C>G) c.172-254223C>G (n.172-254223C>G) | ClinVar dbSNP |
| X | g.38411898C>T | CA224824 | OTC | c.904C>T (p.His302Tyr) c.*654C>T (n.*654C>T) c.172-254223C>T (n.172-254223C>T) | ClinVar dbSNP |
| X | g.38411898C= | CA2424885214 | OTC | c.904C= (p.His302=) c.*654C= (n.*654C=) c.172-254223C= (n.172-254223C=) | dbSNP |