| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237781598A>G | CA345410102 | RYR2 | c.*3006A>G (n.*3006A>G) c.11902A>G (p.Met3968Val) c.11935A>G (p.Met3979Val) c.4091A>G c.11914A>G (p.Met3972Val) c.1967A>G c.11866A>G (p.Met3956Val) n.3109A>G c.11968A>G (p.Met3990Val) c.11965A>G (p.Met3989Val) c.11944A>G (p.Met3982Val) c.11938A>G (p.Met3980Val) c.11932A>G (p.Met3978Val) c.11908A>G (p.Met3970Val) c.11731A>G (p.Met3911Val) c.11875A>G (p.Met3959Val) c.11947A>G (p.Met3983Val) | ClinVar dbSNP |
| 1 | g.237781598A= | CA2487481315 | RYR2 | c.*3006A= (n.*3006A=) c.11902A= (p.Met3968=) c.11935A= (p.Met3979=) c.4091A= c.11914A= (p.Met3972=) c.1967A= c.11866A= (p.Met3956=) n.3109A= c.11968A= (p.Met3990=) c.11965A= (p.Met3989=) c.11944A= (p.Met3982=) c.11938A= (p.Met3980=) c.11932A= (p.Met3978=) c.11908A= (p.Met3970=) c.11731A= (p.Met3911=) c.11875A= (p.Met3959=) c.11947A= (p.Met3983=) | dbSNP |