| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.74366896G>A | CA119587 | DCTN1 | c.2353C>T (p.Arg785Trp) c.2302C>T (p.Arg768Trp) c.2332C>T (p.Arg778Trp) c.2242C>T (p.Arg748Trp) c.1951C>T (p.Arg651Trp) c.2293C>T (p.Arg765Trp) n.3170C>T n.381C>T n.96+2404C>T n.2554C>T c.2284C>T (p.Arg762Trp) n.2333C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.74366896G>C | CA347347757 | DCTN1 | c.2353C>G (p.Arg785Gly) c.2302C>G (p.Arg768Gly) c.2332C>G (p.Arg778Gly) c.2242C>G (p.Arg748Gly) c.1951C>G (p.Arg651Gly) c.2293C>G (p.Arg765Gly) n.3170C>G n.381C>G n.96+2404C>G n.2554C>G c.2284C>G (p.Arg762Gly) n.2333C>G | dbSNP gnomAD v3 gnomAD v4 |