| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.1204058C>A | CA16609535 | CACNA1H | c.2051C>A (p.Pro684His) c.2012C>A (p.Pro671His) c.*1498C>A (n.*1498C>A) c.1283C>A (p.Pro428His) c.1434C>A (p.Pro478=) c.1505C>A (p.Pro502His) n.2153C>A n.2149C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1204058C>G | CA7800094 | CACNA1H | c.2051C>G (p.Pro684Arg) c.2012C>G (p.Pro671Arg) c.*1498C>G (n.*1498C>G) c.1283C>G (p.Pro428Arg) c.1434C>G (p.Pro478=) c.1505C>G (p.Pro502Arg) n.2153C>G n.2149C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1204058C= | CA2201514567 | CACNA1H | c.2051C= (p.Pro684=) c.2012C= (p.Pro671=) c.*1498C= (n.*1498C=) c.1283C= (p.Pro428=) c.1434C= (p.Pro478=) c.1505C= (p.Pro502=) n.2153C= n.2149C= | dbSNP |