| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13259589C>A | CA254466 | CACNA1A | c.4363G>T (p.Val1455Leu) c.4369G>T (p.Val1457Leu) n.3117G>T c.4366G>T (p.Val1456Leu) n.352G>T n.855G>T n.1051G>T n.646G>T n.829G>T c.19G>T (p.Val7Leu) c.4375G>T (p.Val1459Leu) n.685G>T c.4225G>T (p.Val1409Leu) c.4561G>T (p.Val1521Leu) c.421G>T (p.Val141Leu) | ClinVar dbSNP |
| 19 | g.13259589C>T | CA404339250 | CACNA1A | c.4363G>A (p.Val1455Met) c.4369G>A (p.Val1457Met) n.3117G>A c.4366G>A (p.Val1456Met) n.352G>A n.855G>A n.1051G>A n.646G>A n.829G>A c.19G>A (p.Val7Met) c.4375G>A (p.Val1459Met) n.685G>A c.4225G>A (p.Val1409Met) c.4561G>A (p.Val1521Met) c.421G>A (p.Val141Met) | ClinVar dbSNP gnomAD v4 |