• Mutation; HGNC; 1787; CDKN2A; Simple; p.Pro114His (c.341C>A) (p.Ala128Ala, c.384C>A); ClinVar=VCV000376383; Zygosity=Unspecified (PubMed=10369293).
  
• Mutation; HGNC; 8975; PIK3CA; Simple; p.His1047Arg (c.3140A>G); ClinVar=VCV000013652; Zygosity=Heterozygous (DepMap=ACH-000549).
  

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