| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13307784G>A | CA16620796 | CACNA1A | c.1984C>T (p.Gln662Ter) c.1990C>T (p.Gln664Ter) c.1987C>T (p.Gln663Ter) n.1346C>T n.619C>T c.1846C>T (p.Gln616Ter) n.1840C>T c.2182C>T (p.Gln728Ter) | ClinVar dbSNP |
| 19 | g.13307784G= | CA2323829829 | CACNA1A | c.1984C= (p.Gln662=) c.1990C= (p.Gln664=) c.1987C= (p.Gln663=) n.1346C= n.619C= c.1846C= (p.Gln616=) n.1840C= c.2182C= (p.Gln728=) | dbSNP |