| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13312743C>T | CA16620797 | CACNA1A | c.1594G>A (p.Glu532Lys) c.1600G>A (p.Glu534Lys) c.1597G>A (p.Glu533Lys) n.461G>A n.956G>A c.1456G>A (p.Glu486Lys) n.1450G>A c.1792G>A (p.Glu598Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13312743C= | CA2323832157 | CACNA1A | c.1594G= (p.Glu532=) c.1600G= (p.Glu534=) c.1597G= (p.Glu533=) n.461G= n.956G= c.1456G= (p.Glu486=) n.1450G= c.1792G= (p.Glu598=) | dbSNP |