Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.38421051A>G | CA224445 | OTC | c.1034A>G (p.Tyr345Cys) c.*784A>G (n.*784A>G) c.172-245070A>G (n.172-245070A>G) | ClinVar dbSNP |
X | g.38421051A>T | CA412728060 | OTC | c.1034A>T (p.Tyr345Phe) c.*784A>T (n.*784A>T) c.172-245070A>T (n.172-245070A>T) | ClinVar dbSNP |
X | g.38421051A= | CA2424888117 | OTC | c.1034A= (p.Tyr345=) c.*784A= (n.*784A=) c.172-245070A= (n.172-245070A=) | dbSNP |