| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201065943G>A | CA079268 | CACNA1S | c.2748C>T (p.His916=) c.*1911C>T (n.*1911C>T) c.*266C>T (n.*266C>T) c.2688C>T (p.His896=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201065943G>C | CA10575646 | CACNA1S | c.2748C>G (p.His916Gln) c.*1911C>G (n.*1911C>G) c.*266C>G (n.*266C>G) c.2688C>G (p.His896Gln) | dbSNP |
| 1 | g.201065943G= | CA1139928025 | CACNA1S | c.2748C= (p.His916=) c.*1911C= (n.*1911C=) c.*266C= (n.*266C=) c.2688C= (p.His896=) | dbSNP |
| 1 | g.201065943G>T | CA344101937 | CACNA1S | c.2748C>A (p.His916Gln) c.*1911C>A (n.*1911C>A) c.*266C>A (n.*266C>A) c.2688C>A (p.His896Gln) | dbSNP gnomAD v4 |