| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38584955C>T | CA024212 | RYR1 | c.1595C>T c.2992C>T c.2964C>T n.52C>T c.14659C>T (p.His4887Tyr) c.14644C>T (p.His4882Tyr) c.14641C>T (p.His4881Tyr) c.14626C>T (p.His4876Tyr) c.14656C>T (p.His4886Tyr) c.14572C>T (p.His4858Tyr) | ClinVar dbSNP gnomAD v2 |
| 19 | g.38584955C>G | CA405690108 | RYR1 | c.1595C>G c.2992C>G c.2964C>G n.52C>G c.14659C>G (p.His4887Asp) c.14644C>G (p.His4882Asp) c.14641C>G (p.His4881Asp) c.14626C>G (p.His4876Asp) c.14656C>G (p.His4886Asp) c.14572C>G (p.His4858Asp) | dbSNP |