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. 2022 Jul 15;14(7):5088–5097.

Figure 2.

Figure 2

Genetic variants in the 4 patients. A-C. Patient 1. A. The pedigree diagram; B. Sanger sequencing result for CC2D2A: c.2444delC heterozygous variant; C. Sanger sequencing result for CC2D2A: c.4238G>A heterozygous variant. D, E. Patient 2. D. The pedigree diagram; E. The homozygous deletion of NPHP1 exon (1-20) by the schematic of capture efficiency. F-H. Patient 3. F. The pedigree diagram; G. Sanger sequencing result for AHI1: c.910dupA heterozygous variant; H. The heterozygous deletion of AHI1 exon (15-17) by the schematic of capture efficiency. I-K. Patient 4. I. The pedigree diagram; J. Sanger sequencing result for C5orf42: c.3551G>A heterozygous variant; K. Sanger sequencing result for C5orf42: c.4006C>T heterozygous variant.