Table 2 PKD1 and PKD2 variants detected by WES. ADPKD mutations highlighted in bold.

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

WES Variant

Exon

Classification

cDNA Change

Protein Change

rs ID

PKD1 (NM_001009944.2)

16:2140009-Ins

46

Frameshift Ins

c.12627_12655dup29

p.Glu4219fs

Novel

16:2140010-MIX

46

Synonymous

c.12630 T > C

p.=

rs7203729

16:2140294-SNV

45

Nonsyn SNV

c.12436 G > A

p.Val4146Ile

rs148478410

16:2140321-SNV

45

Synonymous

c.12409 C > T

p.=

rs79899502

16:2140454-SNV

45

Synonymous

c.12276 A > G

p.=

rs3087632

16:2140554-SNV

45

Nonsyn SNV

c.12176 C > T

p.Ala4059Val

rs3209986

16:2140680-SNV

44

Nonsyn SNV

c.12133 A > G

p.Ile4045Val

rs10960

16:2141025-Ins

43

Frameshift Ins

c.11863_11864dupC

p.Gln3955fs

Novel

16:2141028-SNV

43

Nonsyn SNV

c.11860 G > C

p.Ala3954Pro

Novel

16:2141795-SNV

41

Nonsyn SNV

c.11524 T > C

p.Trp3842Arg

Novel

16:2142112-Del

40

Del

c.11339_11347delATTACGACG

p.Asp3780_Asp3782del

Novel

16:2142113-SNV

40

Synonymous

c.11346 C > T

p.=

rs145955373

16:2144176-SNV

35

Nonsyn SNV

c.10535 C > T

p.Ala3512Val

rs34197769

16:2144182-SNV

35

Nonsyn SNV

c.10529 C > T

p.Thr3510Met

rs45478794

16:2147399-SNV

33

Synonymous

c.10326 G > A

p.=

rs141138826

16:2152387-SNV

25

Nonsyn SNV

c.9196 T > C

p.Phe3066Leu

rs77028972

16:2152388-SNV

25

Synonymous

c.9195 G > C

p.=

rs78003543; rs9935834

16:2156447-SNV

18

Synonymous

c.7441 C > T

p.=

rs2003782

16:2158441-SNV†

15

Stopgain

c.6727 C > T

p.Gln2243*

28

16:2158570-SNV

15

Nonsyn SNV

c.6598 C > T

p.Arg2200Cys

rs140869992

16:2159405-SNV

15

Synonymous

c.5763 G > A

p.=

rs2575313

16:2159996-SNV

15

Synonymous

c.5172 C > T

p.=

rs9935526

16:2160503-SNV

15

Synonymous

c.4665 A > C

p.=

rs71385734

16:2162887-SNV

13

Synonymous

c.3063 T > C

p.=

rs2369068

16:2164294-SNV

11

Synonymous

c.2730 C > T

p.=

rs35965348

16:2164808-SNV

11

Nonsyn SNV

c.2216 G > A

p.Arg739Gln

rs40433

16:2165470-SNV

10

Nonsyn SNV

c.2006G > T

p.Cys669Phe

Novel

PKD2 (NM_000297.3)

4:88928968-SNV

1

Nonsyn SNV

c.83 G > C

p.Arg28Pro

rs1805044

4:88929305-SNV

1

Synonymous

c.420 G > A

p.=

rs2728118

4:88929453-SNV

1

Nonsyn SNV

c.568 G > A

p.Ala190Thr

rs117078377

4:88967919-SNV

6

Nonsyn SNV

c.1445 T > G

p.Phe482Cys

rs75762896

4:88989089-SNV

13

Nonsyn SNV

c.2398 A > C

p.Met800Leu

rs2234917

  1. †WES detected the mutation in 1 patient from a total of 9 ADPKD patients from the same family. Sanger’s sequencing confirmed that all the 9 family patients are carrying the mutation.
  2. Highlighted variants in bold are the ADPKD mutations detected by WES.
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