Table 3 Details of pathogenic mutations observed from PKD1 and PKD2

PKD1

08006

IVS7

c.1606+1G > A

p.Arg462fs

Splice

PD

09065

EX9A

c.1779delA

p.Glu593Aspfs*192

Frameshift

Novel

09030

EX13

c.3058C > T

p.Gln1020*

Nonsense

PD

09041

EX15B

c.3824delG

p.Gly1275Valfs*71

Frameshift

Novel

09052

EX15E

c.4746G > A

p.Trp1582*

Nonsense

PD

08011

EX15F

c.5014_5015delAG

p.Arg1672Glyfs*98

Frameshift

PD

08019

EX15F

c.5014_5015delAG

p.Arg1672Glyfs*98

Frameshift

PD

09034

EX15F

c.5014_5015delAG

p.Arg1672Glyfs*98

Frameshift

PD

09060

EX15H

c.5595delG

p.Leu1866Serfs*83

Frameshift

Novel

09056

EX15H

c.5722C > T

p.Gln1908*

Nonsense

Novel

08013

EX15M

c.6424C > T

p.Gln2142*

Nonsense

Novel

09024

EX15N

c.6650_6664dup15

p.Val2217_Leu2221dup

Duplication

Novel

09069

EX15N

c.6730_6731delAG

p.Ser2244Hisfs*17

Frameshift

Novel

08008

EX15N

c.6781delG

p.Glu2261Argfs*53

Frameshift

Novel

09032

EX18

c.7288C > T

p.Arg2430*

Nonsense

PD

09031

EX23A

c.8388T > A

p.Tyr2796*

Nonsense

Novel

09042

EX23A

c.8388T > A

p.Tyr2796*

Nonsense

Novel

08023

EX23B

c.8614DelA

p.Ile2872Serfs*3

Frameshift

Novel

08002

EX23B

c.8772_8776delCAACT

p.Asn2925Tyrfs*10

Frameshift

Novel

09066

EX23B

c.8772_8776delCAACT

p.Asn2925Tyrfs*10

Frameshift

Novel

09037

EX29

c.9840_9843dupGGCC

p.Thr3282Glyfs*109

Frameshift

Novel

09035

EX35

c.10527_10528delGA

p.Glu3509Aspfs*117

Frameshift

Novel

08020

EX40

c.11354G > A

p.Trp3785*

Nonsense

Novel

09063

EX44

c.12013C > T

p.Gln4005*

Nonsense

PD

09058

EX44

c.12061C > T

p.Arg4021*

Nonsense

PD

PKD2

09047

EX4

c.973C > T

p.Arg325*

Nonsense

PD

09070

EX4

c.973C > T

p.Arg325*

Nonsense

PD

09036

IVS4

c.1094+1G > C

p.Ala365fs

Splice

PD