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Disruptive mutations are defined as mutations that result in a disrupted protein structure. (A) These include mutations affecting the START or STOP codons, producing an early stop codon, affecting the splice-site, or resulting in a frame shift. (B) The locations of the mutations within the ACVR2A, AMER1, SOX9, ANK3 and APC genes (larger circles represent recurrent mutations). Only mutations occurring in coding regions are included.
