| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237808916G>A | CA008227 | RYR2 | c.*5406G>A (n.*5406G>A) c.14296G>A (p.Gly4766Ser) c.14335G>A (p.Gly4779Ser) c.6485G>A c.14314G>A (p.Gly4772Ser) c.14263G>A (p.Gly4755Ser) n.825G>A c.14368G>A (p.Gly4790Ser) c.14365G>A (p.Gly4789Ser) c.14344G>A (p.Gly4782Ser) c.14338G>A (p.Gly4780Ser) c.14332G>A (p.Gly4778Ser) c.14308G>A (p.Gly4770Ser) c.14131G>A (p.Gly4711Ser) c.14275G>A (p.Gly4759Ser) c.14347G>A (p.Gly4783Ser) | ClinVar dbSNP |
| 1 | g.237808916G= | CA1143355842 | RYR2 | c.*5406G= (n.*5406G=) c.14296G= (p.Gly4766=) c.14335G= (p.Gly4779=) c.6485G= c.14314G= (p.Gly4772=) c.14263G= (p.Gly4755=) n.825G= c.14368G= (p.Gly4790=) c.14365G= (p.Gly4789=) c.14344G= (p.Gly4782=) c.14338G= (p.Gly4780=) c.14332G= (p.Gly4778=) c.14308G= (p.Gly4770=) c.14131G= (p.Gly4711=) c.14275G= (p.Gly4759=) c.14347G= (p.Gly4783=) | dbSNP |