| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237819181C>G | CA008311 | RYR2 | c.*5671C>G (n.*5671C>G) c.14561C>G (p.Ala4854Gly) c.14600C>G (p.Ala4867Gly) c.6750C>G c.14579C>G (p.Ala4860Gly) c.14528C>G (p.Ala4843Gly) n.1090C>G c.14633C>G (p.Ala4878Gly) c.14630C>G (p.Ala4877Gly) c.14609C>G (p.Ala4870Gly) c.14603C>G (p.Ala4868Gly) c.14597C>G (p.Ala4866Gly) c.14573C>G (p.Ala4858Gly) c.14396C>G (p.Ala4799Gly) c.14540C>G (p.Ala4847Gly) c.14612C>G (p.Ala4871Gly) | ClinVar dbSNP |
| 1 | g.237819181C= | CA1141581398 | RYR2 | c.*5671C= (n.*5671C=) c.14561C= (p.Ala4854=) c.14600C= (p.Ala4867=) c.6750C= c.14579C= (p.Ala4860=) c.14528C= (p.Ala4843=) n.1090C= c.14633C= (p.Ala4878=) c.14630C= (p.Ala4877=) c.14609C= (p.Ala4870=) c.14603C= (p.Ala4868=) c.14597C= (p.Ala4866=) c.14573C= (p.Ala4858=) c.14396C= (p.Ala4799=) c.14540C= (p.Ala4847=) c.14612C= (p.Ala4871=) | dbSNP |