| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127421420A>G | CA55343075 | PROC | c.208A>G (p.Lys70Glu) c.*14A>G (n.*14A>G) n.291A>G c.391A>G (p.Lys131Glu) c.271A>G (p.Lys91Glu) c.451A>G (p.Lys151Glu) c.292A>G (p.Lys98Glu) c.184A>G (p.Lys62Glu) c.202A>G (p.Lys68Glu) | ClinVar dbSNP |
| 2 | g.127421420A= | CA1286880936 | PROC | c.208A= (p.Lys70=) c.*14A= (n.*14A=) n.291A= c.391A= (p.Lys131=) c.271A= (p.Lys91=) c.451A= (p.Lys151=) c.292A= (p.Lys98=) c.184A= (p.Lys62=) c.202A= (p.Lys68=) | dbSNP |