| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.74378067C>T | CA342007 | DCTN1 | c.212G>A (p.Gly71Glu) c.161G>A (p.Gly54Glu) c.224G>A (p.Gly75Glu) c.233G>A (p.Gly78Glu) n.473G>A n.252G>A | ClinVar dbSNP |
| 2 | g.74378067C>G | CA342008 | DCTN1 | c.212G>C (p.Gly71Ala) c.161G>C (p.Gly54Ala) c.224G>C (p.Gly75Ala) c.233G>C (p.Gly78Ala) n.473G>C n.252G>C | ClinVar dbSNP |