| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201066283C>G | CA344102555 | CACNA1S | c.2691G>C (p.Arg897Ser) c.*1854G>C (n.*1854G>C) c.*209G>C (n.*209G>C) c.2631G>C (p.Arg877Ser) | ClinVar dbSNP |
| 1 | g.201066283C>A | CA004032 | CACNA1S | c.2691G>T (p.Arg897Ser) c.*1854G>T (n.*1854G>T) c.*209G>T (n.*209G>T) c.2631G>T (p.Arg877Ser) | ClinVar dbSNP gnomAD v4 |