| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13303576G>C | CA266040 | CACNA1A | c.2142C>G (p.Asp714Glu) c.2148C>G (p.Asp716Glu) c.2145C>G (p.Asp715Glu) c.2004C>G (p.Asp668Glu) c.2340C>G (p.Asp780Glu) | ClinVar dbSNP |
| 19 | g.13303576G>T | CA254440 | CACNA1A | c.2142C>A (p.Asp714Glu) c.2148C>A (p.Asp716Glu) c.2145C>A (p.Asp715Glu) c.2004C>A (p.Asp668Glu) c.2340C>A (p.Asp780Glu) | ClinVar dbSNP |
| 19 | g.13303576G>A | CA505660856 | CACNA1A | c.2142C>T (p.Asp714=) c.2148C>T (p.Asp716=) c.2145C>T (p.Asp715=) c.2004C>T (p.Asp668=) c.2340C>T (p.Asp780=) | dbSNP |