| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.74378065T>G | CA342009 | DCTN1 | c.214A>C (p.Thr72Pro) c.163A>C (p.Thr55Pro) c.226A>C (p.Thr76Pro) c.235A>C (p.Thr79Pro) n.475A>C n.254A>C | ClinVar dbSNP |
| 2 | g.74378065T= | CA1261398950 | DCTN1 | c.214A= (p.Thr72=) c.163A= (p.Thr55=) c.226A= (p.Thr76=) c.235A= (p.Thr79=) n.475A= n.254A= | dbSNP |