• Mutation; HGNC; HGNC:1787; CDKN2A; Simple; p.Met53Val (c.157A>G) (p.Asp67Gly, c.200A>G); ClinVar=VCV001467708; Zygosity=Homozygous (PubMed=18487078; PubMed=29970484).
  
• Mutation; HGNC; HGNC:11998; TP53; Simple; c.919+1G>C (IVS8+1G>C); ClinVar=VCV000428905; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=29970484).
  

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