| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237772024A>G | CA007077 | RYR2 | c.*2662A>G (n.*2662A>G) c.11558A>G (p.Tyr3853Cys) c.11591A>G (p.Tyr3864Cys) c.3747A>G c.11570A>G (p.Tyr3857Cys) c.1623A>G c.11522A>G (p.Tyr3841Cys) n.2765A>G c.11624A>G (p.Tyr3875Cys) c.11621A>G (p.Tyr3874Cys) c.11600A>G (p.Tyr3867Cys) c.11594A>G (p.Tyr3865Cys) c.11588A>G (p.Tyr3863Cys) c.11564A>G (p.Tyr3855Cys) c.11387A>G (p.Tyr3796Cys) c.11531A>G (p.Tyr3844Cys) c.11603A>G (p.Tyr3868Cys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237772024A= | CA1148225094 | RYR2 | c.*2662A= (n.*2662A=) c.11558A= (p.Tyr3853=) c.11591A= (p.Tyr3864=) c.3747A= c.11570A= (p.Tyr3857=) c.1623A= c.11522A= (p.Tyr3841=) n.2765A= c.11624A= (p.Tyr3875=) c.11621A= (p.Tyr3874=) c.11600A= (p.Tyr3867=) c.11594A= (p.Tyr3865=) c.11588A= (p.Tyr3863=) c.11564A= (p.Tyr3855=) c.11387A= (p.Tyr3796=) c.11531A= (p.Tyr3844=) c.11603A= (p.Tyr3868=) | dbSNP |