• Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Arg117His (c.350G>A); ClinVar=VCV000007109; Zygosity=Heterozygous (PubMed=19359498).
  
• Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=19359498).
  
• Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Ala222Val (c.665C>T) (C677T); ClinVar=VCV000003520; Zygosity=Heterozygous (Coriell=GM13591).
  

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