| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.74378068C>T | CA340782 | DCTN1 | c.211G>A (p.Gly71Arg) c.160G>A (p.Gly54Arg) c.223G>A (p.Gly75Arg) c.232G>A (p.Gly78Arg) n.472G>A n.251G>A | ClinVar dbSNP |
| 2 | g.74378068C= | CA1261398953 | DCTN1 | c.211G= (p.Gly71=) c.160G= (p.Gly54=) c.223G= (p.Gly75=) c.232G= (p.Gly78=) n.472G= n.251G= | dbSNP |