| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237819167T>G | CA008301 | RYR2 | c.*5657T>G (n.*5657T>G) c.14547T>G (p.Ile4849Met) c.14586T>G (p.Ile4862Met) c.6736T>G c.14565T>G (p.Ile4855Met) c.14514T>G (p.Ile4838Met) n.1076T>G c.14619T>G (p.Ile4873Met) c.14616T>G (p.Ile4872Met) c.14595T>G (p.Ile4865Met) c.14589T>G (p.Ile4863Met) c.14583T>G (p.Ile4861Met) c.14559T>G (p.Ile4853Met) c.14382T>G (p.Ile4794Met) c.14526T>G (p.Ile4842Met) c.14598T>G (p.Ile4866Met) | ClinVar dbSNP |
| 1 | g.237819167T>C | CA424051831 | RYR2 | c.*5657T>C (n.*5657T>C) c.14547T>C (p.Ile4849=) c.14586T>C (p.Ile4862=) c.6736T>C c.14565T>C (p.Ile4855=) c.14514T>C (p.Ile4838=) n.1076T>C c.14619T>C (p.Ile4873=) c.14616T>C (p.Ile4872=) c.14595T>C (p.Ile4865=) c.14589T>C (p.Ile4863=) c.14583T>C (p.Ile4861=) c.14559T>C (p.Ile4853=) c.14382T>C (p.Ile4794=) c.14526T>C (p.Ile4842=) c.14598T>C (p.Ile4866=) | dbSNP |