| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201066917A>T | CA004028 | CACNA1S | c.2627T>A (p.Val876Glu) c.*1790T>A (n.*1790T>A) c.*145T>A (n.*145T>A) c.2567T>A (p.Val856Glu) | ClinVar dbSNP |
| 1 | g.201066917A= | CA1143538604 | CACNA1S | c.2627T= (p.Val876=) c.*1790T= (n.*1790T=) c.*145T= (n.*145T=) c.2567T= (p.Val856=) | dbSNP |