| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237614782G>C | CA086927 | RYR2 | c.5654G>C (p.Gly1885Ala) c.5606G>C (p.Gly1869Ala) c.5684G>C (p.Gly1895Ala) c.5681G>C (p.Gly1894Ala) c.5651G>C (p.Gly1884Ala) n.5965G>C c.5663G>C (p.Gly1888Ala) n.5998G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237614782G>A | CA009938 | RYR2 | c.5654G>A (p.Gly1885Glu) c.5606G>A (p.Gly1869Glu) c.5684G>A (p.Gly1895Glu) c.5681G>A (p.Gly1894Glu) c.5651G>A (p.Gly1884Glu) n.5965G>A c.5663G>A (p.Gly1888Glu) n.5998G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237614782G= | CA1140614992 | RYR2 | c.5654G= (p.Gly1885=) c.5606G= (p.Gly1869=) c.5684G= (p.Gly1895=) c.5681G= (p.Gly1894=) c.5651G= (p.Gly1884=) n.5965G= c.5663G= (p.Gly1888=) n.5998G= | dbSNP |