| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13259569C>T | CA16043172 | CACNA1A | c.4383G>A (p.Trp1461Ter) c.4389G>A (p.Trp1463Ter) n.3137G>A c.4386G>A (p.Trp1462Ter) n.372G>A n.875G>A n.1071G>A n.666G>A n.849G>A c.39G>A (p.Trp13Ter) c.4395G>A (p.Trp1465Ter) n.705G>A c.4245G>A (p.Trp1415Ter) c.4581G>A (p.Trp1527Ter) c.441G>A (p.Trp147Ter) | ClinVar dbSNP |
| 19 | g.13259569C= | CA2323807474 | CACNA1A | c.4383G= (p.Trp1461=) c.4389G= (p.Trp1463=) n.3137G= c.4386G= (p.Trp1462=) n.372G= n.875G= n.1071G= n.666G= n.849G= c.39G= (p.Trp13=) c.4395G= (p.Trp1465=) n.705G= c.4245G= (p.Trp1415=) c.4581G= (p.Trp1527=) c.441G= (p.Trp147=) | dbSNP |