| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38585036A>G | CA024242 | RYR1 | c.1676A>G c.3073A>G c.3045A>G n.133A>G c.14740A>G (p.Arg4914Gly) c.14725A>G (p.Arg4909Gly) c.14722A>G (p.Arg4908Gly) c.14707A>G (p.Arg4903Gly) c.14737A>G (p.Arg4913Gly) c.14653A>G (p.Arg4885Gly) | ClinVar dbSNP |
| 19 | g.38585036A>C | CA507246388 | RYR1 | c.1676A>C c.3073A>C c.3045A>C n.133A>C c.14740A>C (p.Arg4914=) c.14725A>C (p.Arg4909=) c.14722A>C (p.Arg4908=) c.14707A>C (p.Arg4903=) c.14737A>C (p.Arg4913=) c.14653A>C (p.Arg4885=) | dbSNP |
| 19 | g.38585036A= | CA2335094974 | RYR1 | c.1676A= c.3073A= c.3045A= n.133A= c.14740A= (p.Arg4914=) c.14725A= (p.Arg4909=) c.14722A= (p.Arg4908=) c.14707A= (p.Arg4903=) c.14737A= (p.Arg4913=) c.14653A= (p.Arg4885=) | dbSNP |