Figure 3: Sequencing chromatograms of a homozygous NPHP4 mutation (c.2618dupA, pH is 873Glnfs*886) detected in two siblings with nephronophthisis related ciliopathy (Case 1 and Case 2). The mutation was absent from 96 healthy control individuals. Mutation numbering is based on NPHP4 human reference sequence NM_015102.