| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201060815C>T | CA004044 | CACNA1S | c.3257G>A (p.Arg1086His) c.*2420G>A (n.*2420G>A) n.383G>A c.*775G>A (n.*775G>A) c.3197G>A (p.Arg1066His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.201060815C>A | CA079624 | CACNA1S | c.3257G>T (p.Arg1086Leu) c.*2420G>T (n.*2420G>T) n.383G>T c.*775G>T (n.*775G>T) c.3197G>T (p.Arg1066Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |