Table 1 Defnitely pathogenic mutations in PKD1 and PKD2 identified in this study

 c.74dupG

1

p.Gly25Glyfs*89

Frameshift

29

Yes

Novel

 c.106_107insT

1

p.Pro36Leufs*78

Frameshift

12

Yes

Novel

 c.467_487del21

4

p.Ala156_Ala162del

In-frame deletion

49

Yes

Novel

 c.856_862delTCTGGCC

5

p.Ser286Serfs*2

Frameshift

30

Yes

Known

 c.1198C > T

5

p.Arg400*

Nonsense

17

Yes

Known

 c.1297C > T

6

p.Gln433*

Nonsense

48

NA

Known

 c.2050A > T

10

p.Arg684*

Nonsense

47

Yes

Novel

 c.2659delT

11

p.Trp887Glyfs*11

Frameshift

50

Yes

Known

 c.2670 + 1G > A

IVS14

-

Splice

19

Yes

Novel

 c.4177C > T

15

p.Gln1393*

Nonsense

51

Yes

Novel

 c.4447C > T

15

p.Gln1483*

Nonsense

13

Yes

Known

14

Yes

 c.4551C > A

15

p.Tyr1517*

Nonsense

39

Yes

Novel

 c.4609G > T

15

p.Glu1537*

Nonsense

31

Yes

Known

 c.4846G > T

15

p.Glu1616*

Nonsense

37

Yes

Novel

 c.4957C > T

15

p.Gln1653*

Nonsense

16

Yes

Known

 c.5014_5015delAG

15

p.Arg1672Glyfs*98

Frameshift

53

Yes

Known

 c.5120G > A

15

p.Trp1707*

Nonsense

26

Yes

Known

 c.5637C > G

15

p.Tyr1879*

Nonsense

20

Yes

Novel

 c.6115C > T

15

p.Gln2039*

Nonsense

55

Yes

Known

 c.6199C > T

15

p.Gln2067*

Nonsense

34

Yes

Known

 c.6804delG

15

p.Trp2268Cysfs*46

Frameshift

63

No

Novel

 c.6813_6814delAC

15

p.Arg2272Glyfs*147

Frameshift

7

Yes

Known

 c.6945_6946insT

16

p.Gly2316Trpfs*104

Frameshift

1

Yes

Novel

 c.7126C > T

17

p.Gln2376*

Nonsense

45

Yes

Known

 c.7863 + 1G > C

IVS20

-

Splice

36

Yes

Novel

 c.7863 + 2 T > G

IVS20

-

Splice

11

Yes

Novel

 c.7915C > T

21

p.Arg2639*

Nonsense

54

Yes

Known

 c.7973_7974delTG

21

p.Val2658Glyfs*2

Frameshift

9

Yes

Known

 c.8338G > T

23

p.Glu2780*

Nonsense

27

Yes

Known

 c.9666_9667delGA

28

p.Glu3222Aspfs*30

Frameshift

32

Yes

Novel

 c.10050 + 1G > A

IVS30

-

Splice

44

Yes

Known

 c.10220 + 2 T > C

IVS32

-

Splice

3

Yes

Known

 c.10397C > G

34

p.Ser3466*

Nonsense

6

Yes

Novel

 c.10524_10525delAG

35

p.Glu3509Aspfs*117

Frameshift

2

NA

Novel

 c.10710_10715delGGCTGT

36

p.3571_3572del2

In-frame deletion

40

Yes

Known

 c.10724G > A

36

p.Try3575*

Nonsense

38

NA

Novel

 c.10896_10897delGA

37

p.Ser3633Profs*88

Frameshift

5

No

Novel

 c.11240delC

39

p.Pro3747Hisfs*79

Frameshift

33

Yes

Novel

 c.11269 + 1G > A

IVS39

-

Splice

10

Yes

Novel

 c.11311_11312insGTGCT

40

p.Ser3771Cysfs*57

Frameshift

41

NA

Novel

 c.11512C > T

41

p.Gln3838*

Nonsense

15

Yes

Known

 c.11538-2A > G

IVS41

-

Splice

18

Yes

Known

 c.11617_11637del21

42

p.3873_3879del7

In-frame deletion

4

Yes

Novel

 c.11699_11700ins10

42

p.Leu3901Alafs*63

Frameshift

22

Yes

Novel

 c.11830_11838dup

43

p.Leu3944_Ala3946dup

In-frame duplication

52

Yes

Novel

 c.12101delT

44

p.Val4034Glyfs*5

Frameshift

25

No

Novel

 c.12139-2A > T

IVS44

-

Splice

24

Yes

Novel

 c.12391G > T

45

p.Glu4131*

Nonsense

43

Yes

Known

 c.12570_12571insCTCC

46

p.Ser4190Serfs*21

Frameshift

28

Yes

Novel

 c.12682C > T

46

p.Arg4228*

Nonsense

21

Yes

Known

23

Yes

 c.12712C > T

46

p.Gln4238*

Nonsense

46

Yes

Known

 EX31-33del

31–33

-

Large deletion

72

No

Novel

 c.973C > T

4

p.Arg325*

Nonsense

8

Yes

Known

 c.1094 + 3_1094 + 6delAAGT

IVS4

-

Splice

35

Yes

Known

 c.2159dupA

11

p.Asn720Lysfs*5

Frameshift

42

Yes

Known