| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580004A>G | CA024131 | RYR1 | c.1323A>G c.2720A>G c.2692A>G c.14387A>G (p.Tyr4796Cys) c.14372A>G (p.Tyr4791Cys) c.14369A>G (p.Tyr4790Cys) c.14354A>G (p.Tyr4785Cys) c.14384A>G (p.Tyr4795Cys) c.14300A>G (p.Tyr4767Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580004A= | CA2335092255 | RYR1 | c.1323A= c.2720A= c.2692A= c.14387A= (p.Tyr4796=) c.14372A= (p.Tyr4791=) c.14369A= (p.Tyr4790=) c.14354A= (p.Tyr4785=) c.14384A= (p.Tyr4795=) c.14300A= (p.Tyr4767=) | dbSNP |