| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154532695G>A | CA121006 | G6PD | c.1159C>T (p.Arg387Cys) c.1162C>T (p.Arg388Cys) c.1022C>T c.1025C>T c.1011C>T (n.1011C>T) c.*72C>T (n.*72C>T) c.*619C>T (n.*619C>T) c.*119C>T (n.*119C>T) c.*1001C>T (n.*1001C>T) c.1297C>T (p.Arg433Cys) c.1249C>T (p.Arg417Cys) n.380C>T c.1252C>T (p.Arg418Cys) | ClinVar dbSNP |
| X | g.154532695G= | CA2466723450 | G6PD | c.1159C= (p.Arg387=) c.1162C= (p.Arg388=) c.1022C= c.1025C= c.1011C= (n.1011C=) c.*72C= (n.*72C=) c.*619C= (n.*619C=) c.*119C= (n.*119C=) c.*1001C= (n.*1001C=) c.1297C= (p.Arg433=) c.1249C= (p.Arg417=) n.380C= c.1252C= (p.Arg418=) | dbSNP |