| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.37506205C>T | CA10024024 | DYRK1A | c.1653C>T (p.Cys551=) c.1626C>T (p.Cys542=) c.1547-66C>T (n.1547-66C>T) n.1068C>T n.4371C>T c.1539C>T (p.Cys513=) c.1546+616C>T (n.1546+616C>T) c.1566C>T (p.Cys522=) c.969C>T (p.Cys323=) c.1674C>T (p.Cys558=) c.1647C>T (p.Cys549=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37506205C>A | CA16621007 | DYRK1A | c.1653C>A (p.Cys551Ter) c.1626C>A (p.Cys542Ter) c.1547-66C>A (n.1547-66C>A) n.1068C>A n.4371C>A c.1539C>A (p.Cys513Ter) c.1546+616C>A (n.1546+616C>A) c.1566C>A (p.Cys522Ter) c.969C>A (p.Cys323Ter) c.1674C>A (p.Cys558Ter) c.1647C>A (p.Cys549Ter) | ClinVar dbSNP |