| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38572181A>G | CA024078 | RYR1 | c.845A>G c.2242A>G c.2214A>G c.13909A>G (p.Thr4637Ala) c.13894A>G (p.Thr4632Ala) c.13891A>G (p.Thr4631Ala) c.369A>G c.13876A>G (p.Thr4626Ala) c.13906A>G (p.Thr4636Ala) c.13822A>G (p.Thr4608Ala) | ClinVar dbSNP |
| 19 | g.38572181A>C | CA405681005 | RYR1 | c.845A>C c.2242A>C c.2214A>C c.13909A>C (p.Thr4637Pro) c.13894A>C (p.Thr4632Pro) c.13891A>C (p.Thr4631Pro) c.369A>C c.13876A>C (p.Thr4626Pro) c.13906A>C (p.Thr4636Pro) c.13822A>C (p.Thr4608Pro) | ClinVar dbSNP |
| 19 | g.38572181A= | CA2335088431 | RYR1 | c.845A= c.2242A= c.2214A= c.13909A= (p.Thr4637=) c.13894A= (p.Thr4632=) c.13891A= (p.Thr4631=) c.369A= c.13876A= (p.Thr4626=) c.13906A= (p.Thr4636=) c.13822A= (p.Thr4608=) | dbSNP |