| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13303580A>G | CA254418 | CACNA1A | c.2138T>C (p.Val713Ala) c.2144T>C (p.Val715Ala) c.2141T>C (p.Val714Ala) c.2000T>C (p.Val667Ala) c.2336T>C (p.Val779Ala) | ClinVar dbSNP |
| 19 | g.13303580A= | CA2323827968 | CACNA1A | c.2138T= (p.Val713=) c.2144T= (p.Val715=) c.2141T= (p.Val714=) c.2000T= (p.Val667=) c.2336T= (p.Val779=) | dbSNP |