Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.237778726G>C | CA345409319 | RYR2 | c.*2928G>C (n.*2928G>C) c.11824G>C (p.Gly3942Arg) c.11857G>C (p.Gly3953Arg) c.4013G>C c.11836G>C (p.Gly3946Arg) c.1889G>C c.11788G>C (p.Gly3930Arg) n.3031G>C c.11890G>C (p.Gly3964Arg) c.11887G>C (p.Gly3963Arg) c.11866G>C (p.Gly3956Arg) c.11860G>C (p.Gly3954Arg) c.11854G>C (p.Gly3952Arg) c.11830G>C (p.Gly3944Arg) c.11653G>C (p.Gly3885Arg) c.11797G>C (p.Gly3933Arg) c.11869G>C (p.Gly3957Arg) | ClinVar dbSNP |
1 | g.237778726G>A | CA007186 | RYR2 | c.*2928G>A (n.*2928G>A) c.11824G>A (p.Gly3942Ser) c.11857G>A (p.Gly3953Ser) c.4013G>A c.11836G>A (p.Gly3946Ser) c.1889G>A c.11788G>A (p.Gly3930Ser) n.3031G>A c.11890G>A (p.Gly3964Ser) c.11887G>A (p.Gly3963Ser) c.11866G>A (p.Gly3956Ser) c.11860G>A (p.Gly3954Ser) c.11854G>A (p.Gly3952Ser) c.11830G>A (p.Gly3944Ser) c.11653G>A (p.Gly3885Ser) c.11797G>A (p.Gly3933Ser) c.11869G>A (p.Gly3957Ser) | ClinVar dbSNP |