• Mutation; HGNC; HGNC:1787; CDKN2A; Simple; p.Arg80Ter (c.238C>T) (p.Pro94Leu, c.281C>T); ClinVar=VCV000009409; Zygosity=Unspecified (PubMed=24662767).
  
• Mutation; HGNC; HGNC:2214; COL7A1; Simple; p.Arg525Ter (c.1573C>T); ClinVar=VCV000279785; Zygosity=Heterozygous (PubMed=21602893).
  
• Mutation; HGNC; HGNC:2214; COL7A1; Simple; p.Arg578Ter (c.1732C>T); ClinVar=VCV000372330; Zygosity=Heterozygous (PubMed=21602893).
  
• Mutation; HGNC; HGNC:6407; KRAS; Simple; p.Lys176Arg (c.527A>G); Zygosity=Unspecified (PubMed=24662767).
  
• Mutation; HGNC; HGNC:7881; NOTCH1; Simple; p.Arg353Cys (c.1057C>T); Zygosity=Unspecified (PubMed=24662767).
  
• Mutation; HGNC; HGNC:11998; TP53; Simple; p.Arg273His (c.818G>A); ClinVar=VCV000012366; Zygosity=Unspecified (PubMed=21602893; PubMed=24662767).
  

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