• Mutation; HGNC; 959; BAX; Simple; p.Glu41Argfs*19 (c.121delG); ClinVar=VCV000009512; Zygosity=Heterozygous (PubMed=9583678).
  
• Mutation; HGNC; 959; BAX; Simple; p.Glu41Glyfs*33 (c.121dupG); ClinVar=VCV000009511; Zygosity=Heterozygous (PubMed=9583678).
  
• Mutation; HGNC; 16712; FBXW7; Simple; p.Arg505Cys (c.1513C>T); ClinVar=VCV000069961; Zygosity=Heterozygous (PubMed=22675565; Cosmic-CLP=998184).
  
• Mutation; HGNC; 6079; INPP5D; Simple; p.Gln345Ter (c.1033C>T); Zygosity=Heterozygous (PubMed=19473701).
  
• Mutation; HGNC; 6079; INPP5D; Simple; c.1097+1065_1097+1112del47; Zygosity=Heterozygous (PubMed=19473701).
  
• Mutation; HGNC; 7325; MSH2; Simple; p.Arg711Ter (c.2131C>T); ClinVar=VCV000090903; Zygosity=Homozygous (PubMed=9583678).
  
• Mutation; HGNC; 7329; MSH6; Simple; p.Phe1088Serfs*2 (c.3261delC); ClinVar=VCV000089363; Zygosity=Homozygous (PubMed=9510473).
  
• Mutation; HGNC; 7881; NOTCH1; Simple; p.Arg1627His (c.4880G>A); ClinVar=VCV000409067; Zygosity=Heterozygous (PubMed=15472075).
  
• Mutation; HGNC; 11998; TP53; Simple; p.Arg196Ter (c.586C>T); ClinVar=VCV000043589; Zygosity=Heterozygous (PubMed=2144611; PubMed=10071127; PubMed=19220422; PubMed=22675565; Cosmic-CLP=998184).
  

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