| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580449A>C | CA405687854 | RYR1 | c.1527A>C c.2924A>C c.2896A>C c.14591A>C (p.Tyr4864Ser) c.14576A>C (p.Tyr4859Ser) c.14573A>C (p.Tyr4858Ser) c.14558A>C (p.Tyr4853Ser) c.14588A>C (p.Tyr4863Ser) c.14504A>C (p.Tyr4835Ser) | ClinVar dbSNP |
| 19 | g.38580449A>G | CA024196 | RYR1 | c.1527A>G c.2924A>G c.2896A>G c.14591A>G (p.Tyr4864Cys) c.14576A>G (p.Tyr4859Cys) c.14573A>G (p.Tyr4858Cys) c.14558A>G (p.Tyr4853Cys) c.14588A>G (p.Tyr4863Cys) c.14504A>G (p.Tyr4835Cys) | ClinVar dbSNP |
| 19 | g.38580449A= | CA2335092488 | RYR1 | c.1527A= c.2924A= c.2896A= c.14591A= (p.Tyr4864=) c.14576A= (p.Tyr4859=) c.14573A= (p.Tyr4858=) c.14558A= (p.Tyr4853=) c.14588A= (p.Tyr4863=) c.14504A= (p.Tyr4835=) | dbSNP |