| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.74378104C>G | CA347322341 | DCTN1 | c.175G>C (p.Gly59Arg) c.124G>C (p.Gly42Arg) c.187G>C (p.Gly63Arg) c.196G>C (p.Gly66Arg) n.436G>C n.215G>C | ClinVar dbSNP |
| 2 | g.74378104C>T | CA340781 | DCTN1 | c.175G>A (p.Gly59Ser) c.124G>A (p.Gly42Ser) c.187G>A (p.Gly63Ser) c.196G>A (p.Gly66Ser) n.436G>A n.215G>A | ClinVar dbSNP |