| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237784256G>C | CA007580 | RYR2 | c.*3636G>C (n.*3636G>C) c.12532G>C (p.Glu4178Gln) c.12565G>C (p.Glu4189Gln) c.4721G>C c.12544G>C (p.Glu4182Gln) c.2597G>C c.12496G>C (p.Glu4166Gln) n.3739G>C c.12598G>C (p.Glu4200Gln) c.12595G>C (p.Glu4199Gln) c.12574G>C (p.Glu4192Gln) c.12568G>C (p.Glu4190Gln) c.12562G>C (p.Glu4188Gln) c.12538G>C (p.Glu4180Gln) c.12361G>C (p.Glu4121Gln) c.12505G>C (p.Glu4169Gln) c.12577G>C (p.Glu4193Gln) | ClinVar dbSNP |
| 1 | g.237784256G= | CA1144229304 | RYR2 | c.*3636G= (n.*3636G=) c.12532G= (p.Glu4178=) c.12565G= (p.Glu4189=) c.4721G= c.12544G= (p.Glu4182=) c.2597G= c.12496G= (p.Glu4166=) n.3739G= c.12598G= (p.Glu4200=) c.12595G= (p.Glu4199=) c.12574G= (p.Glu4192=) c.12568G= (p.Glu4190=) c.12562G= (p.Glu4188=) c.12538G= (p.Glu4180=) c.12361G= (p.Glu4121=) c.12505G= (p.Glu4169=) c.12577G= (p.Glu4193=) | dbSNP |