Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.1844466G>T | CA115580 | CACNA2D4 | c.2406C>A (p.Tyr802Ter) n.2599C>A c.*652C>A (n.*652C>A) c.247C>A n.458C>A c.2214C>A (p.Tyr738Ter) c.1989C>A (p.Tyr663Ter) c.2331C>A (p.Tyr777Ter) c.2343C>A (p.Tyr781Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.1844466G>A | CA477867944 | CACNA2D4 | c.2406C>T (p.Tyr802=) n.2599C>T c.*652C>T (n.*652C>T) c.247C>T n.458C>T c.2214C>T (p.Tyr738=) c.1989C>T (p.Tyr663=) c.2331C>T (p.Tyr777=) c.2343C>T (p.Tyr781=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |