| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.59193502G>C | CA128854 | PDE4D | c.490C>G (p.Gln164Glu) c.682C>G (p.Gln228Glu) c.352C>G (p.Gln118Glu) c.247C>G (p.Gln83Glu) c.274C>G (p.Gln92Glu) n.345C>G c.316C>G (p.Gln106Glu) c.499C>G (p.Gln167Glu) c.292C>G (p.Gln98Glu) c.-98-154531C>G (n.-98-154531C>G) n.194C>G c.289C>G (p.Gln97Glu) n.227C>G c.646C>G (p.Gln216Glu) c.469C>G (p.Gln157Glu) c.262C>G (p.Gln88Glu) c.241C>G (p.Gln81Glu) c.178C>G (p.Gln60Glu) c.-13C>G (n.-13C>G) c.-269C>G (n.-269C>G) c.484C>G (p.Gln162Glu) | ClinVar dbSNP |
| 5 | g.59193502G>A | CA359930476 | PDE4D | c.490C>T (p.Gln164Ter) c.682C>T (p.Gln228Ter) c.352C>T (p.Gln118Ter) c.247C>T (p.Gln83Ter) c.274C>T (p.Gln92Ter) n.345C>T c.316C>T (p.Gln106Ter) c.499C>T (p.Gln167Ter) c.292C>T (p.Gln98Ter) c.-98-154531C>T (n.-98-154531C>T) n.194C>T c.289C>T (p.Gln97Ter) n.227C>T c.646C>T (p.Gln216Ter) c.469C>T (p.Gln157Ter) c.262C>T (p.Gln88Ter) c.241C>T (p.Gln81Ter) c.178C>T (p.Gln60Ter) c.-13C>T (n.-13C>T) c.-269C>T (n.-269C>T) c.484C>T (p.Gln162Ter) | dbSNP |
| 5 | g.59193502G= | CA1549218562 | PDE4D | c.490C= (p.Gln164=) c.682C= (p.Gln228=) c.352C= (p.Gln118=) c.247C= (p.Gln83=) c.274C= (p.Gln92=) n.345C= c.316C= (p.Gln106=) c.499C= (p.Gln167=) c.292C= (p.Gln98=) c.-98-154531C= (n.-98-154531C=) n.194C= c.289C= (p.Gln97=) n.227C= c.646C= (p.Gln216=) c.469C= (p.Gln157=) c.262C= (p.Gln88=) c.241C= (p.Gln81=) c.178C= (p.Gln60=) c.-13C= (n.-13C=) c.-269C= (n.-269C=) c.484C= (p.Gln162=) | dbSNP |