| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.74378112T>C | CA1722597 | DCTN1 | c.167A>G (p.Lys56Arg) c.116A>G (p.Lys39Arg) c.179A>G (p.Lys60Arg) c.188A>G (p.Lys63Arg) n.428A>G n.207A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.74378112T= | CA1261398966 | DCTN1 | c.167A= (p.Lys56=) c.116A= (p.Lys39=) c.179A= (p.Lys60=) c.188A= (p.Lys63=) n.428A= n.207A= | dbSNP |