Folliculin variants discovered by sequencing. The folliculin gene is shown at the bottom of the figure. There are two isoforms; the longer isoform 1 (NM_144997) is on top. In the gene, thin lines represent intronic regions, with the arrowheads indicating direction of transcription. Blocks represent exons; thin blocks at either end represent the 5' and 3' untranslated regions (UTRs), while the thick blocks represent coding exons. Variants discovered by sequencing are shown above the folliculin gene, and labeled by rs number (via dbSNP) or position (referencing isoform 1) as available. Bold indicates variants subsequently genotyped in the larger cohort. UCSC Genome Browser, hg18, March 2006 Assembly.