| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237791441C>T | CA007921 | RYR2 | c.*4581C>T (n.*4581C>T) c.13471C>T (p.Arg4491Cys) c.13510C>T (p.Arg4504Cys) c.5660C>T c.13489C>T (p.Arg4497Cys) c.3542C>T c.13438C>T (p.Arg4480Cys) c.13543C>T (p.Arg4515Cys) c.13540C>T (p.Arg4514Cys) c.13519C>T (p.Arg4507Cys) c.13513C>T (p.Arg4505Cys) c.13507C>T (p.Arg4503Cys) c.13483C>T (p.Arg4495Cys) c.13306C>T (p.Arg4436Cys) c.13450C>T (p.Arg4484Cys) c.13522C>T (p.Arg4508Cys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237791441C= | CA1141581502 | RYR2 | c.*4581C= (n.*4581C=) c.13471C= (p.Arg4491=) c.13510C= (p.Arg4504=) c.5660C= c.13489C= (p.Arg4497=) c.3542C= c.13438C= (p.Arg4480=) c.13543C= (p.Arg4515=) c.13540C= (p.Arg4514=) c.13519C= (p.Arg4507=) c.13513C= (p.Arg4505=) c.13507C= (p.Arg4503=) c.13483C= (p.Arg4495=) c.13306C= (p.Arg4436=) c.13450C= (p.Arg4484=) c.13522C= (p.Arg4508=) | dbSNP |