Figure 1. Study Flow and Penetrance of PKD1 and PKD2 Variants.

Evaluation of 174 172 patients with exome sequencing revealed loss-of-function variants in PKD1 and PKD2 or in-frame deletions and missense variants in PKD1 and PKD2 classified as likely pathogenic in the Mayo PKD database. ADPKD indicates autosomal dominant polycystic kidney disease; ICD-9, International Classification of Diseases, Ninth Revision; ICD-10, International Statistical Classification of Diseases and Related Health Problems, Tenth Revision.

^aThere is overlap of 131 individuals in both the genotype-first and the phenotype-first analyses.

^bADPKD diagnosis defined as having 1 or more of the following ICD-9 or ICD-10 codes in electronic health record: Q61.2, Q61.3, 753.12, or 753.13.

^cSee Figure 2 and Figure 3 for details.

^dClassified as likely pathogenic in the Mayo PKD database.

^eChart review by radiologist and nephrologist.