| 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 |
| 19 | g.38572224A= | CA2335088453 | RYR1 | c.888A= c.2285A= c.2257A= c.13952A= (p.His4651=) c.13937A= (p.His4646=) c.13934A= (p.His4645=) c.412A= c.13919A= (p.His4640=) c.13949A= (p.His4650=) c.13865A= (p.His4622=) | dbSNP |