| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38403681C>G | CA412725595 | OTC | c.604C>G (p.His202Asp) c.*354C>G (n.*354C>G) c.172-262440C>G (n.172-262440C>G) | ClinVar dbSNP |
| X | g.38403681C>T | CA224705 | OTC | c.604C>T (p.His202Tyr) c.*354C>T (n.*354C>T) c.172-262440C>T (n.172-262440C>T) | ClinVar dbSNP |
| X | g.38403681C= | CA2424882721 | OTC | c.604C= (p.His202=) c.*354C= (n.*354C=) c.172-262440C= (n.172-262440C=) | dbSNP |