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Scientist: Research Projects: Human Craniofacial Mutation and Variation Database

The table below lists some of the mutations found in the human craniofacial condition Apert Syndrome. The table gives information on the mutant gene, nucleotide change, amino acid change, type of mutation, and published reference. For more details on each mutation click on "view".

Apert Syndrome Mutations and Variations

Gene Nucleotide
Change		 Amino Acid
Change		 Type Further Details Reference
FGFR2 1041_1042insAlu   Insertion  view Oldridge, 1999
FGFR2 1041_1042insAlu   Insertion  view Oldridge, 1999
FGFR2 755_756CG>TT S252F  Missense  view Oldridge, 1997
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 755C>G S252W  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 758C>G P253R  Missense  view Wilkie, 1995
FGFR2 940-2_-3insAlu   Insertion  view Oldridge, 1999

Last Updated: 9/30/02

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