Table 1 ADPKD mutations detected by LR-PCR and Sanger’s sequencing.

From: PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease

Family Exon Variant DNA Variant Protein Mutation Type Reference
1 46 c.12627_12655dup29 p.Phe4219fs Duplication/Frameshift Novel
2 41 c.11524 T > C p.Trp3842Arg Missense Novel
3 43 c.11863dupC p.Gln3955fs*6 Duplication/Frameshift Novel
4 40 c.11339_11347delATTACGACG p.Asp3780_Asp3782del Deletion/Framshift Novel
5 15† c.5014_5015delAG p.Arg1672Glyfs*98 Deletion/Frameshift [15]
6 15 c.6727 C > T p.Gln2243* Nonsense [28]
  1. Mutation could not be detected by WES.