Table 5 PKD1 mutations detected by WGS*.

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

cDNA Change

Protein

Mean Depth

Quality

c.11863dupC

p.Q3955fs

25

40.3

c.5014_5015delAG

p.Arg1672Glyfs*98

34

34.9

c.6727 C > T

p.Q2243X

37

40.1

  1. *The genomes of 4 ADPKD with known mutations where analyzed using WGS. 3 out 4 mutations were detected successfully while the c.12627_12655dup29 was missed.
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