| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201077912C>A | CA004022 | CACNA1S | c.1586G>T (p.Cys529Phe) c.*749G>T (n.*749G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077912C>T | CA344121220 | CACNA1S | c.1586G>A (p.Cys529Tyr) c.*749G>A (n.*749G>A) | dbSNP gnomAD v4 |
| 1 | g.201077912C= | CA1148278466 | CACNA1S | c.1586G= (p.Cys529=) c.*749G= (n.*749G=) | dbSNP |