| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128398560T>G | CA16043423 | IMPDH1 | c.820A>C (p.Thr274Pro) n.803A>C c.928A>C (p.Thr310Pro) c.560A>C c.898A>C (p.Thr300Pro) c.829A>C (p.Thr277Pro) n.517A>C c.693A>C c.670A>C (p.Thr224Pro) c.658A>C (p.Thr220Pro) c.803A>C (n.803A>C) c.598A>C (p.Thr200Pro) c.721A>C (p.Thr241Pro) c.673A>C (p.Thr225Pro) c.697A>C (p.Thr233Pro) c.310A>C (p.Thr104Pro) | ClinVar dbSNP |
| 7 | g.128398560T= | CA1742328387 | IMPDH1 | c.820A= (p.Thr274=) n.803A= c.928A= (p.Thr310=) c.560A= c.898A= (p.Thr300=) c.829A= (p.Thr277=) n.517A= c.693A= c.670A= (p.Thr224=) c.658A= (p.Thr220=) c.803A= (n.803A=) c.598A= (p.Thr200=) c.721A= (p.Thr241=) c.673A= (p.Thr225=) c.697A= (p.Thr233=) c.310A= (p.Thr104=) | dbSNP |