| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13230185T>G | CA254421 | CACNA1A | c.5425A>C (p.Ile1809Leu) c.5431A>C (p.Ile1811Leu) c.844A>C n.649A>C c.586A>C (p.Ile196Leu) c.5428A>C (p.Ile1810Leu) n.1414A>C c.495+1525A>C (n.495+1525A>C) c.5434A>C (p.Ile1812Leu) c.52A>C (p.Ile18Leu) c.5443A>C (p.Ile1815Leu) c.5287A>C (p.Ile1763Leu) c.619A>C n.818A>C c.829A>C (p.Ile277Leu) n.419A>C c.5629A>C (p.Ile1877Leu) c.1483A>C (p.Ile495Leu) c.886A>C (p.Ile296Leu) | ClinVar dbSNP |
| 19 | g.13230185T>C | CA404333750 | CACNA1A | c.5425A>G (p.Ile1809Val) c.5431A>G (p.Ile1811Val) c.844A>G n.649A>G c.586A>G (p.Ile196Val) c.5428A>G (p.Ile1810Val) n.1414A>G c.495+1525A>G (n.495+1525A>G) c.5434A>G (p.Ile1812Val) c.52A>G (p.Ile18Val) c.5443A>G (p.Ile1815Val) c.5287A>G (p.Ile1763Val) c.619A>G n.818A>G c.829A>G (p.Ile277Val) n.419A>G c.5629A>G (p.Ile1877Val) c.1483A>G (p.Ile495Val) c.886A>G (p.Ile296Val) | ClinVar dbSNP |
| 19 | g.13230185T= | CA2323793055 | CACNA1A | c.5425A= (p.Ile1809=) c.5431A= (p.Ile1811=) c.844A= n.649A= c.586A= (p.Ile196=) c.5428A= (p.Ile1810=) n.1414A= c.495+1525A= (n.495+1525A=) c.5434A= (p.Ile1812=) c.52A= (p.Ile18=) c.5443A= (p.Ile1815=) c.5287A= (p.Ile1763=) c.619A= n.818A= c.829A= (p.Ile277=) n.419A= c.5629A= (p.Ile1877=) c.1483A= (p.Ile495=) c.886A= (p.Ile296=) | dbSNP |