| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.101986236A>G | CA128844 | DYNC1H1 | c.2011A>G (p.Lys671Glu) n.2130A>G c.*1520A>G (n.*1520A>G) c.*1742A>G (n.*1742A>G) | ClinVar dbSNP |
| 14 | g.101986236A= | CA2159593408 | DYNC1H1 | c.2011A= (p.Lys671=) n.2130A= c.*1520A= (n.*1520A=) c.*1742A= (n.*1742A=) | dbSNP |