| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237783714A>G | CA16617109 | RYR2 | c.*3094A>G (n.*3094A>G) c.11990A>G (p.Asp3997Gly) c.12023A>G (p.Asp4008Gly) c.4179A>G c.12002A>G (p.Asp4001Gly) c.2055A>G c.11954A>G (p.Asp3985Gly) n.3197A>G c.12056A>G (p.Asp4019Gly) c.12053A>G (p.Asp4018Gly) c.12032A>G (p.Asp4011Gly) c.12026A>G (p.Asp4009Gly) c.12020A>G (p.Asp4007Gly) c.11996A>G (p.Asp3999Gly) c.11819A>G (p.Asp3940Gly) c.11963A>G (p.Asp3988Gly) c.12035A>G (p.Asp4012Gly) | ClinVar dbSNP |
| 1 | g.237783714A= | CA2487482235 | RYR2 | c.*3094A= (n.*3094A=) c.11990A= (p.Asp3997=) c.12023A= (p.Asp4008=) c.4179A= c.12002A= (p.Asp4001=) c.2055A= c.11954A= (p.Asp3985=) n.3197A= c.12056A= (p.Asp4019=) c.12053A= (p.Asp4018=) c.12032A= (p.Asp4011=) c.12026A= (p.Asp4009=) c.12020A= (p.Asp4007=) c.11996A= (p.Asp3999=) c.11819A= (p.Asp3940=) c.11963A= (p.Asp3988=) c.12035A= (p.Asp4012=) | dbSNP |