| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580114C>T | CA024158 | RYR1 | c.1433C>T c.2830C>T c.2802C>T c.14497C>T (p.His4833Tyr) c.14482C>T (p.His4828Tyr) c.14479C>T (p.His4827Tyr) c.14464C>T (p.His4822Tyr) c.14494C>T (p.His4832Tyr) c.14410C>T (p.His4804Tyr) | ClinVar dbSNP |
| 19 | g.38580114C= | CA2335092308 | RYR1 | c.1433C= c.2830C= c.2802C= c.14497C= (p.His4833=) c.14482C= (p.His4828=) c.14479C= (p.His4827=) c.14464C= (p.His4822=) c.14494C= (p.His4832=) c.14410C= (p.His4804=) | dbSNP |