Table 2 Strong candidate variants in sporadic cases

430

AD

PRPF31

Hetero

19

1

c.310G > A

p.E104K

nonsynonymous

Novel

-

-

II

432

AD

PRPH2

Hetero

6

1

c.380A > G

p.E127G

nonsynonymous

Novel

-

-

II

436

AR

PDE6B

Compound hetero

4

8

c.832C > T

p.H278Y

nonsynonymous

rs121918581

-

-

Ι

1

c.32G > A

p.W11X

nonsense

Novel

-

-

II

438

AR

USH2A

Compound hetero

1

42

c.8885 T > G

p.L2962R

nonsynonymous

Novel

-

-

II

18

c.4460G > A

p.W1487X

nonsense

Novel

-

-

II

439

AR

EYS

Compound hetero

6

8

c.1750G > T

p.E584X

nonsense

Novel

-

-

II

26

c.4958_4959insA

p.S1653fs

frameshift insertion

Novel

-

-

II

440

AR

EYS

Compound hetero

6

29

c.6557G > A

p.G2186E

nonsynonymous

10 Littink

-

-

Ι

26

c.4958_4959insA

p.S1653fs

frameshift insertion

Novel

-

-

II

445

AR

PDE6B

Compound hetero

4

8

c.832C > T

p.H278Y

nonsynonymous

rs121918581

-

-

I

8

c.767 T > A

p.I256N

nonsynonymous

Novel

-

-

II