| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13235693C>T | CA185906 | CACNA1A | c.4988G>A (p.Arg1663Gln) c.4994G>A (p.Arg1665Gln) c.407G>A n.212G>A c.149G>A (p.Arg50Gln) n.193G>A c.4991G>A (p.Arg1664Gln) n.977G>A c.303G>A c.4997G>A (p.Arg1666Gln) c.284G>A (p.Arg95Gln) c.5006G>A (p.Arg1669Gln) c.4850G>A (p.Arg1617Gln) c.248G>A n.381G>A c.392G>A (p.Arg131Gln) c.5192G>A (p.Arg1731Gln) c.1046G>A (p.Arg349Gln) c.449G>A (p.Arg150Gln) | ClinVar dbSNP |
| 19 | g.13235693C>G | CA404336959 | CACNA1A | c.4988G>C (p.Arg1663Pro) c.4994G>C (p.Arg1665Pro) c.407G>C n.212G>C c.149G>C (p.Arg50Pro) n.193G>C c.4991G>C (p.Arg1664Pro) n.977G>C c.303G>C c.4997G>C (p.Arg1666Pro) c.284G>C (p.Arg95Pro) c.5006G>C (p.Arg1669Pro) c.4850G>C (p.Arg1617Pro) c.248G>C n.381G>C c.392G>C (p.Arg131Pro) c.5192G>C (p.Arg1731Pro) c.1046G>C (p.Arg349Pro) c.449G>C (p.Arg150Pro) | dbSNP gnomAD v4 |
| 19 | g.13235693C= | CA2323795783 | CACNA1A | c.4988G= (p.Arg1663=) c.4994G= (p.Arg1665=) c.407G= n.212G= c.149G= (p.Arg50=) n.193G= c.4991G= (p.Arg1664=) n.977G= c.303G= c.4997G= (p.Arg1666=) c.284G= (p.Arg95=) c.5006G= (p.Arg1669=) c.4850G= (p.Arg1617=) c.248G= n.381G= c.392G= (p.Arg131=) c.5192G= (p.Arg1731=) c.1046G= (p.Arg349=) c.449G= (p.Arg150=) | dbSNP |