| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13298882C>T | CA9240489 | CACNA1A | c.2751G>A (p.Glu917=) c.2757G>A (p.Glu919=) c.2754G>A (p.Glu918=) c.2763G>A (p.Glu921=) c.2613G>A (p.Glu871=) c.2949G>A (p.Glu983=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298882C>G | CA152091 | CACNA1A | c.2751G>C (p.Glu917Asp) c.2757G>C (p.Glu919Asp) c.2754G>C (p.Glu918Asp) c.2763G>C (p.Glu921Asp) c.2613G>C (p.Glu871Asp) c.2949G>C (p.Glu983Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |