Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.237648523G>A | CA39796557 | RYR2 | c.7422G>A (p.Arg2474=) c.7374G>A (p.Arg2458=) c.7452G>A (p.Arg2484=) c.7449G>A (p.Arg2483=) c.7419G>A (p.Arg2473=) n.7733G>A c.7431G>A (p.Arg2477=) n.7766G>A | dbSNP |
1 | g.237648523G>C | CA010703 | RYR2 | c.7422G>C (p.Arg2474Ser) c.7374G>C (p.Arg2458Ser) c.7452G>C (p.Arg2484Ser) c.7449G>C (p.Arg2483Ser) c.7419G>C (p.Arg2473Ser) n.7733G>C c.7431G>C (p.Arg2477Ser) n.7766G>C | ClinVar dbSNP |