• Mutation; HGNC; 9588; PTEN; Simple; c.253+1G>T; ClinVar=VCV000189475; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=19593635).
  
• Mutation; HGNC; 9884; RB1; Simple; c.265_2787del2523; Zygosity=Homozygous (PubMed=19593635).
  
• Mutation; HGNC; 11998; TP53; Simple; p.Arg273His (c.818G>A); ClinVar=VCV000012366; Zygosity=Homozygous (PubMed=1961733; PubMed=16541312; PubMed=28889351; ATCC).
  

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