| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.59038869G>A | CA130730 | PDE4D | c.719C>T (p.Ala240Val) c.911C>T (p.Ala304Val) c.581C>T (p.Ala194Val) c.763C>T (n.763C>T) c.5C>T (p.Ala2Val) c.503C>T (p.Ala168Val) n.472-45404C>T c.545C>T (p.Ala182Val) c.728C>T (p.Ala243Val) c.521C>T (p.Ala174Val) n.647C>T c.518C>T (p.Ala173Val) c.239C>T (p.Ala80Val) c.875C>T (p.Ala292Val) c.698C>T (p.Ala233Val) c.491C>T (p.Ala164Val) c.470C>T (p.Ala157Val) c.407C>T (p.Ala136Val) n.838+3751G>A c.143C>T (p.Ala48Val) c.713C>T (p.Ala238Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.59038869G= | CA1549150249 | PDE4D | c.719C= (p.Ala240=) c.911C= (p.Ala304=) c.581C= (p.Ala194=) c.763C= (n.763C=) c.5C= (p.Ala2=) c.503C= (p.Ala168=) n.472-45404C= c.545C= (p.Ala182=) c.728C= (p.Ala243=) c.521C= (p.Ala174=) n.647C= c.518C= (p.Ala173=) c.239C= (p.Ala80=) c.875C= (p.Ala292=) c.698C= (p.Ala233=) c.491C= (p.Ala164=) c.470C= (p.Ala157=) c.407C= (p.Ala136=) n.838+3751G= c.143C= (p.Ala48=) c.713C= (p.Ala238=) | dbSNP |