| 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 |
| 19 | g.13259589C>G | CA404339249 | CACNA1A | c.4363G>C (p.Val1455Leu) c.4369G>C (p.Val1457Leu) n.3117G>C c.4366G>C (p.Val1456Leu) n.352G>C n.855G>C n.1051G>C n.646G>C n.829G>C c.19G>C (p.Val7Leu) c.4375G>C (p.Val1459Leu) n.685G>C c.4225G>C (p.Val1409Leu) c.4561G>C (p.Val1521Leu) c.421G>C (p.Val141Leu) | ClinVar dbSNP |
| 19 | g.13259589C= | CA2323807480 | CACNA1A | c.4363G= (p.Val1455=) c.4369G= (p.Val1457=) n.3117G= c.4366G= (p.Val1456=) n.352G= n.855G= n.1051G= n.646G= n.829G= c.19G= (p.Val7=) c.4375G= (p.Val1459=) n.685G= c.4225G= (p.Val1409=) c.4561G= (p.Val1521=) c.421G= (p.Val141=) | dbSNP |