Table 2 Polymorphisms

PKD1

c.107C>A

p.Pro36His

Exon 1

1

SUBSTITUTION

[37]

2

c.114C>T

p.Leu38Leu

Exon 1

1

SYNONYMOUS

Novel

1

c.1023C>T

p.Ala341Ala

Exon 5

5C

SYNONYMOUS

[9]

2

c.1119T>C

p.Leu373Leu

Exon 5

5C

SYNONYMOUS

[24]

1

c.1323G>A

p.Gly441Gly

Exon 6

6

SYNONYMOUS

[25]

1

c.1607-27C>T

Silent

Intron 7

8

INTRONIC

[10]

3

c.1714C>T

p.Pro572Ser

Exon 8

8

SUBSTITUTION

[10]

1

c.1850-4A>G

Silent

Intron 9

10

INTRONIC

[10]

2

c.2214C>G

p.Pro738Pro

Exon 11

11A

SYNONYMOUS

[18]

1

c.2216A>G

p.Gln739Arg

Exon 11

11A

SUBSTITUTION

[31]

5

c.2234C>G

p.Ala745Ala

Exon 11

11A

SYNONYMOUS

Novel

1

c.2700G>A

p.Pro900Pro

Exon 11

11B

SYNONYMOUS

[31]

1

c.2730C>T

p.Asp910Asp

Exon 11

11B

SYNONYMOUS

[31]

1

c.2854-5C>T

Silent

Intron 11

12

INTRONIC

[10]

1

c.2985+4G>A

Silent

Intron 12

12

INTRONIC

Novel

4

c.2985+5G>A

Silent

Intron 12

12

INTRONIC

Novel

3

c.2986-15C>T

Silent

Intron 12

13

INTRONIC

[38]

4

c.3063T>C

p.Gly1021Gly

Exon 13

13

SYNONYMOUS

[31]

8

c.3111A>G

p.Leu1037Leu

Exon 13

13

SYNONYMOUS

[9]

7

c.3275T>C

p.Met1092Thr

Exon 14

14

SUBSTITUTION

[10]

5

c.2395+53G>T

Silent

Intron 14

14

INTRONIC

Novel

1

c.3372C>T

p.Ala1124Ala

Exon 15

15A

SYNONYMOUS

[9]

8

c.3375C>T

p.Ser1125Ser

Exon 15

15A

SYNONYMOUS

[9]

8

c.3502C>T

p.Pro1168Ser

Exon 15

15A

SUBSTITUTION

[10]

2

c.4018C>T

p.Arg1340Trp

Exon 15

15B

SUBSTITUTION

[10]

1

c.4071G>T

p.Leu1357Leu

Exon 15

15C

SYNONYMOUS

[18]

1

c.4195T>C

p.Trp1399Arg

Exon 15

15C

SUBSTITUTION

[31]

8

c.4546G>A

p.Ala1516Thr

Exon 15

15D

SUBSTITUTION

[18]

1

c.4665A>C

p.Ala1555Ala

Exon 15

15D

SYNONYMOUS

[31]

11

c.4674G>A

p.Thr1558Thr

Exon 15

15D

SYNONYMOUS

[38]

4

c.5051C>T

p.Ser1684Leu

Exon 15

15E

SUBSTITUTION

[10]

1

c.5172C>T

p.Ala1724Ala

Exon 15

15E

SYNONYMOUS

[39]

11

c.5763G>A

p.Leu1921Leu

Exon 15

15G

SYNONYMOUS

[9]

1

c.6927C>T

p.Gly2309Gly

Exon 16

16

SYNONYMOUS

[39]

2

c.7165T>C

p.Leu2389Leu

Exon 17

17

SYNONYMOUS

[31]

7

c.7209+16G>A

Silent

Intron 17

17

INTRONIC

Novel

13

c.7210C>T

p.Arg2404Trp

Exon 18

18

SUBSTITUTION

CRISP unpublised

1

c.7441C>T

p.Leu2481Leu

Exon 18

18

SYNONYMOUS

[31]

11

c.7642G>C

p.Glu2548Gln

Exon 19

19

SUBSTITUTION

[39]

1

c.7703+24C>A

Silent

Intron 19

19

INTRONIC

[18]

1

c.7708T>C

p.Leu2570Leu

Exon 20

20

SYNONYMOUS

[32]

8

c.7863+47T>G

Silent

Intron 20

20

INTRONIC

[10]

9

c.7913A>G

p.His2638Arg

Exon 21

21

SUBSTITUTION

[38]

8

c.8016+13delG

Silent

Intron 21

21

INTRONIC

Novel

1

c.8016+26T>C

Silent

Intron 21

21

INTRONIC

[30]

8

c.8016+71G>A

Silent

Intron 21

21

INTRONIC

Novel

1

c.8016+77C>T

Silent

Intron 21

21

INTRONIC

Novel

1

c.8020C>T

p.Pro2674Ser

Exon 22

22

SUBSTITUTION

[40]

2

c.8087T>G

p.Leu2696Arg

Exon 22

22

SUBSTITUTION

[41]

12

c.8123C>T

p.Thr2708Met

Exon 22

22

SUBSTITUTION

[40]

1

c.8161+21T>C

Silent

Intron 22

22

INTRONIC

[30]

13

c.8161+23C>T

Silent

Intron 22

22

INTRONIC

Novel

9

c.8161+24C>G

Silent

Intron 22

22

INTRONIC

Novel

11

c.8161+25A>G

Silent

Intron 22

22

INTRONIC

Novel

11

c.8161+29del18

Silent

Intron 22

22

INTRONIC

Novel

1

c.8161+30C>G

Silent

Intron 22

22

INTRONIC

Novel

12

c.8161+31C>T

Silent

Intron 22

22

INTRONIC

Novel

12

c.8161+38G>A

Silent

Intron 22

22

INTRONIC

[30]

10

c.8161+39T>C

Silent

Intron 22

22

INTRONIC

[10]

1

c.8161+41C>T

Silent

Intron 22

22

INTRONIC

Novel

1

c.8161+42C>G

Silent

Intron 22

22

INTRONIC

Novel

10

c.8161+46ins18

Silent

Intron 22

22

INTRONIC

Novel

1

c.8644T>A

p.Trp2882Arg

Exon 23

23B

SUBSTITUTION

[18]

1

c.8681_8689del9

p.Ala2894_Ser2896del

Exon 23

23B

DELETION

[11]

1

c.8898G>C

p.Glu2966Asp

Exon 24

24

SUBSTITUTION

[42]

1

c.8913T>C

p.Ala2971Ala

Exon 24

24

SYNONYMOUS

[42]

2

c.8948+17A>G

Silent

Intron 24

24

INTRONIC

[18]

1

c.9195G>C

p.Val3065Val

Exon 25

25

SYNONYMOUS

Novel

1

c.9196T>C

p.Phe3066Leu

Exon 25

25

SUBSTITUTION

[43]

1

c.9260C>G

p.Thr3087Thr

Exon 26

26

SYNONYMOUS

Novel

1

c.9270C>T

p.Val3090Val

Exon 26

26

SYNONYMOUS

[39]

2

c.9330T>C

p.Pro3110Pro

Exon 26

26

SYNONYMOUS

[44]

12

c.9569-13T>C

Silent

Intron 27

28

INTRONIC

[10]

5

c.9712+30T>G

Silent

Intron 28

28

INTRONIC

Novel

2

c.10050+54A>G

Silent

Exon 30

30

INTRONIC

[10]

5

c.10170+14T>C

Silent

Intron 31

31

INTRONIC

[45]

1

c.10225G>C

p.Val3409Leu

Exon 33

33

SUBSTITUTION

[18]

1

c.10368C>T

p.Ala3456Ala

Exon 33

33

SUBSTITUTION

[18]

1

c.10406-4C>T

Silent

Intron 33

34

INTRONIC

Novel

1

c.10535C>T

p.Ala3512Val

Exon 35

35

SUBSTITUTION

[44]

4

c.10768C>T

p.Leu3590Leu

Exon 36

36

SYNONYMOUS

[46]

5

c.11376G>C

p.Ser3792Ser

Exon 40

40

SYNONYMOUS

[40]

1

c.11537+5_+6insGGG

Silent

Intron 41

41

INTRONIC

[39]

1

c.11682C>T

p.Ser3894Ser

Exon 42

42

SYNONYMOUS

[10]

2

c.11916C>T

p.Arg3972Arg

Exon 43

43

SYNONYMOUS

[39]

5

c.12138+22delG

Silent

Intron 44

44

INTRONIC

[47]

1

c.12176C>T

p.Ala4059Val

Exon 45

45

SUBSTITUTION

[48]

3

c.12201T>C

p.Pro4067Pro

Exon 45

45

SYNONYMOUS

Novel

9

c.12276A>G

p.Ala4092Ala

Exon 45

45

SYNONYMOUS

[31]

5

c.12409C>T

p.Leu4137Leu

Exon 45

45

SYNONYMOUS

[49]

1

c.12630T>C

p.Pro4210Pro

Exon 46

46A

SYNONYMOUS

[46]

1

c.12765C>T

p.Pro4255Pro

Exon 46

46B

SYNONYMOUS

[50]

1

PKD2

c.83G>C

p.Arg28Pro

Exon 1

1A

SUBSTITUTION

[51]

1

c.321A>T

p.Glu107Asp

Exon 1

1B

SUBSTITUTION

Novel

15

c.420G>A

p.Gly140Gly

Exon 1

1B

SYNONYMOUS

[52]

6

c.568G>A

p.Ala190Thr

Exon 1

1B

SUBSTITUTION

[25]

3

c.844-22G>A

Silent

Intron 3

4

INTRONIC

[51]

1

c.1445T>G

p.Phe482Cys

Exon 6

6

SUBSTITUTION

[53]

1