| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201060816G>T | CA004036 | CACNA1S | c.3256C>A (p.Arg1086Ser) c.*2419C>A (n.*2419C>A) n.382C>A c.*774C>A (n.*774C>A) c.3196C>A (p.Arg1066Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201060816G>A | CA004040 | CACNA1S | c.3256C>T (p.Arg1086Cys) c.*2419C>T (n.*2419C>T) n.382C>T c.*774C>T (n.*774C>T) c.3196C>T (p.Arg1066Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201060816G>C | CA079623 | CACNA1S | c.3256C>G (p.Arg1086Gly) c.*2419C>G (n.*2419C>G) n.382C>G c.*774C>G (n.*774C>G) c.3196C>G (p.Arg1066Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |