| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.74378079C>T | CA10588002 | DCTN1 | c.200G>A (p.Gly67Asp) c.149G>A (p.Gly50Asp) c.212G>A (p.Gly71Asp) c.221G>A (p.Gly74Asp) n.461G>A n.240G>A | ClinVar dbSNP |
| 2 | g.74378079C>A | CA347322090 | DCTN1 | c.200G>T (p.Gly67Val) c.149G>T (p.Gly50Val) c.212G>T (p.Gly71Val) c.221G>T (p.Gly74Val) n.461G>T n.240G>T | ClinVar dbSNP |
| 2 | g.74378079C= | CA1261398957 | DCTN1 | c.200G= (p.Gly67=) c.149G= (p.Gly50=) c.212G= (p.Gly71=) c.221G= (p.Gly74=) n.461G= n.240G= | dbSNP |