| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237828390T>C | CA16617111 | RYR2 | c.*5692T>C (n.*5692T>C) c.14582T>C (p.Ile4861Thr) c.14621T>C (p.Ile4874Thr) c.6771T>C c.14600T>C (p.Ile4867Thr) c.14549T>C (p.Ile4850Thr) n.1111T>C c.14654T>C (p.Ile4885Thr) c.14651T>C (p.Ile4884Thr) c.14630T>C (p.Ile4877Thr) c.14624T>C (p.Ile4875Thr) c.14618T>C (p.Ile4873Thr) c.14594T>C (p.Ile4865Thr) c.14417T>C (p.Ile4806Thr) c.14561T>C (p.Ile4854Thr) c.14633T>C (p.Ile4878Thr) | ClinVar dbSNP |
| 1 | g.237828390T= | CA2487501687 | RYR2 | c.*5692T= (n.*5692T=) c.14582T= (p.Ile4861=) c.14621T= (p.Ile4874=) c.6771T= c.14600T= (p.Ile4867=) c.14549T= (p.Ile4850=) n.1111T= c.14654T= (p.Ile4885=) c.14651T= (p.Ile4884=) c.14630T= (p.Ile4877=) c.14624T= (p.Ile4875=) c.14618T= (p.Ile4873=) c.14594T= (p.Ile4865=) c.14417T= (p.Ile4806=) c.14561T= (p.Ile4854=) c.14633T= (p.Ile4878=) | dbSNP |