| 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) | ClinVar dbSNP |
| 19 | g.38584955C= | CA2335094929 | RYR1 | c.1595C= c.2992C= c.2964C= n.52C= c.14659C= (p.His4887=) c.14644C= (p.His4882=) c.14641C= (p.His4881=) c.14626C= (p.His4876=) c.14656C= (p.His4886=) c.14572C= (p.His4858=) | dbSNP |