| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237783759T>A | CA007324 | RYR2 | c.*3139T>A (n.*3139T>A) c.12035T>A (p.Phe4012Tyr) c.12068T>A (p.Phe4023Tyr) c.4224T>A c.12047T>A (p.Phe4016Tyr) c.2100T>A c.11999T>A (p.Phe4000Tyr) n.3242T>A c.12101T>A (p.Phe4034Tyr) c.12098T>A (p.Phe4033Tyr) c.12077T>A (p.Phe4026Tyr) c.12071T>A (p.Phe4024Tyr) c.12065T>A (p.Phe4022Tyr) c.12041T>A (p.Phe4014Tyr) c.11864T>A (p.Phe3955Tyr) c.12008T>A (p.Phe4003Tyr) c.12080T>A (p.Phe4027Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237783759T= | CA1144033630 | RYR2 | c.*3139T= (n.*3139T=) c.12035T= (p.Phe4012=) c.12068T= (p.Phe4023=) c.4224T= c.12047T= (p.Phe4016=) c.2100T= c.11999T= (p.Phe4000=) n.3242T= c.12101T= (p.Phe4034=) c.12098T= (p.Phe4033=) c.12077T= (p.Phe4026=) c.12071T= (p.Phe4024=) c.12065T= (p.Phe4022=) c.12041T= (p.Phe4014=) c.11864T= (p.Phe3955=) c.12008T= (p.Phe4003=) c.12080T= (p.Phe4027=) | dbSNP |