| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.37490273C>T | CA278446 | DYRK1A | c.763C>T (p.Arg255Ter) c.649C>T (p.Arg217Ter) c.736C>T (p.Arg246Ter) n.566C>T n.127C>T c.784C>T (p.Arg262Ter) n.178C>T c.676C>T (p.Arg226Ter) c.79C>T (p.Arg27Ter) c.757C>T (p.Arg253Ter) | ClinVar dbSNP |
| 21 | g.37490273C>A | CA512327748 | DYRK1A | c.763C>A (p.Arg255=) c.649C>A (p.Arg217=) c.736C>A (p.Arg246=) n.566C>A n.127C>A c.784C>A (p.Arg262=) n.178C>A c.676C>A (p.Arg226=) c.79C>A (p.Arg27=) c.757C>A (p.Arg253=) | dbSNP |