• Mutation; HGNC; 7881; NOTCH1; Simple; p.Leu1600Pro (c.4799T>C); Zygosity=Heterozygous (PubMed=15472075).
  
• Mutation; HGNC; 7881; NOTCH1; Simple; p.Pro2514Argfs*4 (c.7541_7542delCT); ClinVar=VCV000581973; Zygosity=Heterozygous (PubMed=15472075).
  
• Mutation; HGNC; 7989; NRAS; Simple; p.Gly12Cys (c.34G>T); ClinVar=VCV000040468; Zygosity=Heterozygous (PubMed=12068308; PubMed=17088437).
  
• Mutation; HGNC; 9588; PTEN; Simple; p.Lys267Argfs*9 (c.800delA) (p.Leu265fs, c.795delA); ClinVar=VCV000092828; Zygosity=Homozygous (PubMed=17088437).
  
• Mutation; HGNC; 11389; STK11; Simple; p.Gln214Ter (c.640C>T); ClinVar=VCV000428759; Zygosity=Heterozygous (PubMed=17088437).
  
• Mutation; HGNC; 11998; TP53; Simple; p.Arg306Ter (c.916C>T); ClinVar=VCV000142144; Zygosity=Heterozygous (PubMed=17088437).
  

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