Fig. 2

a: Excerpt of exome sequencing data visualised with Integrative Genomics viewer. The heterozygous C > T mutation at chromosome 17, position 36,059,155, in exon 8 of HNF1β is shown in the reverse strand. b: Sanger sequencing trace showing normal [top] and mutated [bottom] sequence. c: Multiple sequence alignment showing 66 amino acids surrounding the mutation position, indicated by the black box. The amino acid residue affected is highly conserved across multiple species