| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.101979951C>G | CA10584453 | DYNC1H1 | c.751C>G (p.Arg251Gly) n.870C>G c.*260C>G (n.*260C>G) c.*482C>G (n.*482C>G) | ClinVar dbSNP |
| 14 | g.101979951C>T | CA16043476 | DYNC1H1 | c.751C>T (p.Arg251Cys) n.870C>T c.*260C>T (n.*260C>T) c.*482C>T (n.*482C>T) | ClinVar dbSNP |
| 14 | g.101979951C>A | CA391009071 | DYNC1H1 | c.751C>A (p.Arg251Ser) n.870C>A c.*260C>A (n.*260C>A) c.*482C>A (n.*482C>A) | ClinVar dbSNP |