| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.74378058T>C | CA1722591 | DCTN1 | c.221A>G (p.Gln74Arg) c.170A>G (p.Gln57Arg) c.233A>G (p.Gln78Arg) c.242A>G (p.Gln81Arg) n.482A>G n.261A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.74378058T>G | CA340783 | DCTN1 | c.221A>C (p.Gln74Pro) c.170A>C (p.Gln57Pro) c.233A>C (p.Gln78Pro) c.242A>C (p.Gln81Pro) n.482A>C n.261A>C | ClinVar dbSNP |