| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237678090A>G | CA011083 | RYR2 | c.8831-2366A>G (n.8831-2366A>G) c.8873A>G (p.Gln2958Arg) c.1062A>G c.8825A>G (p.Gln2942Arg) n.84-2366A>G c.8903A>G (p.Gln2968Arg) c.8900A>G (p.Gln2967Arg) c.8860+3244A>G (n.8860+3244A>G) c.8870A>G (p.Gln2957Arg) n.9184A>G c.8882A>G (p.Gln2961Arg) n.9217A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237678090A= | CA1140547554 | RYR2 | c.8831-2366A= (n.8831-2366A=) c.8873A= (p.Gln2958=) c.1062A= c.8825A= (p.Gln2942=) n.84-2366A= c.8903A= (p.Gln2968=) c.8900A= (p.Gln2967=) c.8860+3244A= (n.8860+3244A=) c.8870A= (p.Gln2957=) n.9184A= c.8882A= (p.Gln2961=) n.9217A= | dbSNP |