| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201363330G>A | CA004746 | TNNT2 | c.551C>T (p.Ser184Phe) c.536C>T (p.Ser179Phe) c.533C>T (p.Ser178Phe) c.566C>T (p.Ser189Phe) c.518C>T (p.Ser173Phe) n.1030C>T c.163-1331C>T (n.163-1331C>T) c.*466C>T (n.*466C>T) c.446C>T (p.Ser149Phe) c.542C>T (p.Ser181Phe) c.521C>T (p.Ser174Phe) c.359C>T (p.Ser120Phe) n.859C>T n.792C>T n.21C>T n.1775C>T n.462C>T c.563C>T (p.Ser188Phe) | ClinVar dbSNP |
| 1 | g.201363330G= | CA1148224905 | TNNT2 | c.551C= (p.Ser184=) c.536C= (p.Ser179=) c.533C= (p.Ser178=) c.566C= (p.Ser189=) c.518C= (p.Ser173=) n.1030C= c.163-1331C= (n.163-1331C=) c.*466C= (n.*466C=) c.446C= (p.Ser149=) c.542C= (p.Ser181=) c.521C= (p.Ser174=) c.359C= (p.Ser120=) n.859C= n.792C= n.21C= n.1775C= n.462C= c.563C= (p.Ser188=) | dbSNP |