| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38584974G>C | CA024223 | RYR1 | c.1614G>C c.3011G>C c.2983G>C n.71G>C c.14678G>C (p.Arg4893Pro) c.14663G>C (p.Arg4888Pro) c.14660G>C (p.Arg4887Pro) c.14645G>C (p.Arg4882Pro) c.14675G>C (p.Arg4892Pro) c.14591G>C (p.Arg4864Pro) | ClinVar dbSNP |
| 19 | g.38584974G>A | CA024221 | RYR1 | c.1614G>A c.3011G>A c.2983G>A n.71G>A c.14678G>A (p.Arg4893Gln) c.14663G>A (p.Arg4888Gln) c.14660G>A (p.Arg4887Gln) c.14645G>A (p.Arg4882Gln) c.14675G>A (p.Arg4892Gln) c.14591G>A (p.Arg4864Gln) | ClinVar dbSNP |