• Mutation; HGNC; HGNC:6342; KIT; Simple; p.Val560Asp (c.1679T>A); ClinVar=VCV000375914; Zygosity=Homozygous (PubMed=19706776).
  
• Mutation; HGNC; HGNC:6342; KIT; Simple; p.Asp820Ala (c.2459A>C); ClinVar=VCV000953798; Zygosity=Heterozygous (PubMed=19706776).
  

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