| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237832592A>G | CA16042325 | RYR2 | c.*5941A>G (n.*5941A>G) c.14831A>G (p.Glu4944Gly) c.14870A>G (p.Glu4957Gly) c.7020A>G c.14849A>G (p.Glu4950Gly) c.14798A>G (p.Glu4933Gly) n.692A>G n.1259A>G c.14903A>G (p.Glu4968Gly) c.14900A>G (p.Glu4967Gly) c.14879A>G (p.Glu4960Gly) c.14873A>G (p.Glu4958Gly) c.14867A>G (p.Glu4956Gly) c.14843A>G (p.Glu4948Gly) c.14666A>G (p.Glu4889Gly) c.14810A>G (p.Glu4937Gly) c.14882A>G (p.Glu4961Gly) | ClinVar dbSNP |
| 1 | g.237832592A= | CA2487503395 | RYR2 | c.*5941A= (n.*5941A=) c.14831A= (p.Glu4944=) c.14870A= (p.Glu4957=) c.7020A= c.14849A= (p.Glu4950=) c.14798A= (p.Glu4933=) n.692A= n.1259A= c.14903A= (p.Glu4968=) c.14900A= (p.Glu4967=) c.14879A= (p.Glu4960=) c.14873A= (p.Glu4958=) c.14867A= (p.Glu4956=) c.14843A= (p.Glu4948=) c.14666A= (p.Glu4889=) c.14810A= (p.Glu4937=) c.14882A= (p.Glu4961=) | dbSNP |