| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38566953G>A | CA059913 | RYR1 | c.416G>A c.1848-820G>A c.1872G>A c.13480G>A (p.Glu4494Lys) c.13465G>A (p.Glu4489Lys) c.13462G>A (p.Glu4488Lys) c.27G>A c.13447G>A (p.Glu4483Lys) c.13477G>A (p.Glu4493Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38566953G>C | CA308110534 | RYR1 | c.416G>C c.1848-820G>C c.1872G>C c.13480G>C (p.Glu4494Gln) c.13465G>C (p.Glu4489Gln) c.13462G>C (p.Glu4488Gln) c.27G>C c.13447G>C (p.Glu4483Gln) c.13477G>C (p.Glu4493Gln) | dbSNP gnomAD v4 |
| 19 | g.38566953G>T | CA024049 | RYR1 | c.416G>T c.1848-820G>T c.1872G>T c.13480G>T (p.Glu4494Ter) c.13465G>T (p.Glu4489Ter) c.13462G>T (p.Glu4488Ter) c.27G>T c.13447G>T (p.Glu4483Ter) c.13477G>T (p.Glu4493Ter) | ClinVar dbSNP gnomAD v4 |