A c.1223G>A Mutation in <i>NLRP12</i> Identified in an FCAS Family.

<p>(a) Flow diagram of the filtering analysis of the exome sequencing data. The data from the patients and controls were compared, and known SNPs and InDels were excluded as described in the Materials and Methods section. The causative mutation was identified after a comprehensive analysis. (b) The c.1223G>A mutation in patient III-5 compared to the control was confirmed by Sanger sequencing. The position is indicated by an arrow. (c) Sequence alignment of multiple species. The red line shows the position of the p.Trp408X mutation.