| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235741499T>A | CA347108 | LYST | c.2956A>T (p.Arg986Ter) c.376A>T (p.Arg126Ter) c.*3705A>T (n.*3705A>T) c.1990A>T (p.Arg664Ter) c.415A>T (p.Arg139Ter) c.2761A>T (p.Arg921Ter) c.8281A>T (p.Arg2761Ter) n.184A>T c.8443A>T (p.Arg2815Ter) c.8305A>T (p.Arg2769Ter) c.6106A>T (p.Arg2036Ter) n.8625A>T n.8463A>T n.7912A>T | ClinVar dbSNP |
| 1 | g.235741499T= | CA2486625452 | LYST | c.2956A= (p.Arg986=) c.376A= (p.Arg126=) c.*3705A= (n.*3705A=) c.1990A= (p.Arg664=) c.415A= (p.Arg139=) c.2761A= (p.Arg921=) c.8281A= (p.Arg2761=) n.184A= c.8443A= (p.Arg2815=) c.8305A= (p.Arg2769=) c.6106A= (p.Arg2036=) n.8625A= n.8463A= n.7912A= | dbSNP |