| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13231847C>T | CA254457 | CACNA1A | c.5263G>A (p.Glu1755Lys) c.5269G>A (p.Glu1757Lys) c.682G>A n.487G>A c.424G>A (p.Glu142Lys) c.5266G>A (p.Glu1756Lys) n.1252G>A c.578G>A c.358G>A (p.Glu120Lys) c.5272G>A (p.Glu1758Lys) c.559G>A (p.Glu187Lys) c.5281G>A (p.Glu1761Lys) c.5125G>A (p.Glu1709Lys) c.457G>A n.656G>A c.667G>A (p.Glu223Lys) n.257G>A c.5467G>A (p.Glu1823Lys) c.1321G>A (p.Glu441Lys) c.724G>A (p.Glu242Lys) | ClinVar dbSNP |
| 19 | g.13231847C= | CA2323793816 | CACNA1A | c.5263G= (p.Glu1755=) c.5269G= (p.Glu1757=) c.682G= n.487G= c.424G= (p.Glu142=) c.5266G= (p.Glu1756=) n.1252G= c.578G= c.358G= (p.Glu120=) c.5272G= (p.Glu1758=) c.559G= (p.Glu187=) c.5281G= (p.Glu1761=) c.5125G= (p.Glu1709=) c.457G= n.656G= c.667G= (p.Glu223=) n.257G= c.5467G= (p.Glu1823=) c.1321G= (p.Glu441=) c.724G= (p.Glu242=) | dbSNP |