| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201077915C>T | CA004021 | CACNA1S | c.1583G>A (p.Arg528His) c.*746G>A (n.*746G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201077915C>A | CA35978916 | CACNA1S | c.1583G>T (p.Arg528Leu) c.*746G>T (n.*746G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201077915C= | CA1141188104 | CACNA1S | c.1583G= (p.Arg528=) c.*746G= (n.*746G=) | dbSNP |