Table 2 Sequence variants identified in PKD2

1

E95X

c.283 G > T

Glu95X

nonsense

pathogenic

1

P150L

c.449 C > T

Pro150Leu

missense

likely neutral

1

A190T

c.568 G > A*

Ala190Thr

missense

likely neutral

4

1

305_307dupAGG

c.305_307dupAGG

Val 103 fs

frameshift

pathogenic

1

397del44

c.397del44

Ser133fs

frameshift

pathogenic

1

401_410delTGGGCGCGCG

c.401_410delTGGGCGCGCG

Val134fs

frameshift

pathogenic

2

W201X

c.602 G > A*

Trp201X

nonsense

pathogenic

2

2

R213X

c.637 C > T

Arg213X

nonsense

pathogenic

2

IVS2

IVS2 + 5insA

c.709 + 5insA

Leu237fs

splice

likely pathogenic

IVS2

IVS2-2A > G

c.710-2A > G*

Leu237fs

splice

pathogenic

4

R322Q

c.965 G > A*

Arg322Gln

missense

pathogenic

4

R361X

c.1081 C > T*

Arg361X

nonsense

pathogenic

IVS4

IVS4 + 1 G > A

c.1094 + 1 G > A*

Ala365fs

splice

pathogenic

5

G390V

c.1169 G > T

Gly390Val

missense

pathogenic

6

F482C

c.1445 T > G*

Phe482Cys

missense

likely neutral

2

6

W507X

c.1521 G > A

Trp507X

nonsense

pathogenic

7

1668dupA

c.1668dupA

Gln557fs

frameshift

pathogenic

IVS8

IVS8 + 5 G > C

c.1898 + 5 G > C

Leu573fs

splice

pathogenic

IVS8

IVS8 + 1 G > A

c.1898 + 1 G > A*

Leu573fs

splice

pathogenic

8

Q613X

c.1837 C > T

Gln613X

nonsense

pathogenic

8

C632Y

c.1895 G > A

Cys632Tyr

missense

likely pathogenic

10

2085_2087delAGCinsGG

c.2085_2087delAGCinsGG

Lys695fs

frameshift

pathogenic

11

2163dupC

c.2163dupC

Val722fs

frameshift

pathogenic

11

R730Q

c.2189 G > A

Arg730Gln

missense

likely neutral

11

R742X

c.2224 C > T*

Arg742X

nonsense

pathogenic

13

R807Q (a)

c.2420 G > A*

Arg807Gln

missense

indeterminate

14

R845X

c.2533 C > T*

Arg845X

nonsense

pathogenic

14

L867P (a)

c.2600 T > C

Leu867Pro

missense

likely pathogenic

15

D919N

c.2755 G > A

Asp919Asn

missense

likely pathogenic

1-15

EX1_EX15del

deletion

pathogenic