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Table 2 Validated Fanconi gene mutations

From: Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients

Gene Site Mutation Fa-001 Fa-002 Fa-003 Fa-004 Fa-005
F M C F M C F M C F M C C#
FANCA Chr16 88389826-32 -GGGCTGT deletion frameshift             
Chr16 88385436* G > A missense A > V             
Chr16 88389853-4 -GG deletion frameshift             
Chr16 88385373 -A deletion frameshift             
Chr16 88343697* T > C missense S > G             
Chr16 88343715 G > A missense R > W             
Chr16 88367267* G > C missense P > A             
Chr16 88343815* A > G intron             
FANCB ChrX 14781120 C > T missense V > I             
FANCM Chr14 44714456 A > G missense I- > V             
Chr14 44735218 C > G missense P > A              
Chr14 44714339 G > T nonsense N > N              
Chr14 44676037 C > T missense S > F              
Chr14 44720650 A > G missense I > V              
Chr14 44727906 G > A missense R > Q              
FANCD1 (BRCA2) Chr13 31809499 C > G missense H > D              
Chr13 31804480* A > C missense N > H             
Chr13 31809463* A > C missense N > D             
Chr13 31871012 A > C 3’-UTR            
FANCD2 Chr3 10117949* C > T 3’-UTR              
Chr3 10081532* C > T missense P > L             
Chr3 10115671* G > A 3’-UTR             
FANCI Chr15 87636941* A > G missense I > V             
  1. :homozygous mutation; : heterozygous mutation; F: father; M: mother; C: child (patient); # Orphan; *SNP.