| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38572224A>G | CA405681310 | RYR1 | c.888A>G c.2285A>G c.2257A>G c.13952A>G (p.His4651Arg) c.13937A>G (p.His4646Arg) c.13934A>G (p.His4645Arg) c.412A>G c.13919A>G (p.His4640Arg) c.13949A>G (p.His4650Arg) c.13865A>G (p.His4622Arg) | ClinVar dbSNP |
| 19 | g.38572224A>C | CA024093 | RYR1 | c.888A>C c.2285A>C c.2257A>C c.13952A>C (p.His4651Pro) c.13937A>C (p.His4646Pro) c.13934A>C (p.His4645Pro) c.412A>C c.13919A>C (p.His4640Pro) c.13949A>C (p.His4650Pro) c.13865A>C (p.His4622Pro) | ClinVar dbSNP |