| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201077916G>A | CA078419 | CACNA1S | c.1582C>T (p.Arg528Cys) c.*745C>T (n.*745C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077916G>C | CA004020 | CACNA1S | c.1582C>G (p.Arg528Gly) c.*745C>G (n.*745C>G) | ClinVar dbSNP |
| 1 | g.201077916G>T | CA344121244 | CACNA1S | c.1582C>A (p.Arg528Ser) c.*745C>A (n.*745C>A) | dbSNP |