| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237784281T>A | CA345413647 | RYR2 | c.*3661T>A (n.*3661T>A) c.12557T>A (p.Val4186Glu) c.12590T>A (p.Val4197Glu) c.4746T>A c.12569T>A (p.Val4190Glu) c.2622T>A c.12521T>A (p.Val4174Glu) n.3764T>A c.12623T>A (p.Val4208Glu) c.12620T>A (p.Val4207Glu) c.12599T>A (p.Val4200Glu) c.12593T>A (p.Val4198Glu) c.12587T>A (p.Val4196Glu) c.12563T>A (p.Val4188Glu) c.12386T>A (p.Val4129Glu) c.12530T>A (p.Val4177Glu) c.12602T>A (p.Val4201Glu) | ClinVar dbSNP |
| 1 | g.237784281T>G | CA16617110 | RYR2 | c.*3661T>G (n.*3661T>G) c.12557T>G (p.Val4186Gly) c.12590T>G (p.Val4197Gly) c.4746T>G c.12569T>G (p.Val4190Gly) c.2622T>G c.12521T>G (p.Val4174Gly) n.3764T>G c.12623T>G (p.Val4208Gly) c.12620T>G (p.Val4207Gly) c.12599T>G (p.Val4200Gly) c.12593T>G (p.Val4198Gly) c.12587T>G (p.Val4196Gly) c.12563T>G (p.Val4188Gly) c.12386T>G (p.Val4129Gly) c.12530T>G (p.Val4177Gly) c.12602T>G (p.Val4201Gly) | ClinVar dbSNP |