| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13334492C>A | CA16620799 | CACNA1A | c.1084G>T (p.Glu362Ter) n.799G>T n.443G>T c.943G>T (p.Glu315Ter) n.937G>T c.1279G>T (p.Glu427Ter) n.304G>T | ClinVar dbSNP |
| 19 | g.13334492C= | CA2323842050 | CACNA1A | c.1084G= (p.Glu362=) n.799G= n.443G= c.943G= (p.Glu315=) n.937G= c.1279G= (p.Glu427=) n.304G= | dbSNP |