| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.1205153G>A | CA214924 | CACNA1H | c.2491G>A (p.Val831Met) c.2452G>A (p.Val818Met) c.*1938G>A (n.*1938G>A) c.1723G>A (p.Val575Met) c.*404G>A (n.*404G>A) c.1945G>A (p.Val649Met) n.2593G>A n.2589G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 16 | g.1205153G= | CA2201515482 | CACNA1H | c.2491G= (p.Val831=) c.2452G= (p.Val818=) c.*1938G= (n.*1938G=) c.1723G= (p.Val575=) c.*404G= (n.*404G=) c.1945G= (p.Val649=) n.2593G= n.2589G= | dbSNP |