Table 2 Variant information of disease genes.

F1

USH2A

c.14287G > C

p. (Gly4763Arg)

RP

⁶

F2

USH2A

c.5200G > C

p. (Gly1734Arg)

RP

⁷

F3

USH2A

c.8559–2 A > G

p. (?)

USH2

⁸

F4

USH2A

c.10179del

p. (Met3393*)

USH2

This report

F5

CYP4V2

c.802-8_810del17insGC

p. (268_270del)

BCD

⁹

F6

CYP4V2

c.802-8_810del17insGC

p. (268_270del)

BCD

⁹

F7

PROM1

c.544dupC

p. (Gln182*)

STGD

This report

F8

PROM1

c.1363G > C

p. (Gly455Arg)

RP

This report

F9

PROM1

c.1902 C > G

p. (Tyr634*)

RP

¹⁰

F10

RP1

c.6181del

p. (Ile 2061Serfs*12)

RP

¹¹

F11

RP1

c.256 C > A

p. (Pro86*)

RP

¹²

F12

CNGA1

c.265del

p. (Leu89Phefs*4)

RP

This report

F13

CNGA1

c.253del

p. (Leu85Phefs*4)

RP

This report

F14

PRPH2

c.640T > A

p. (Cys214Ser)

LCA

This report

F15

ABCA4

c.1680delC

p. (Thr560*)

RP

¹³

F16

CRB1

c.3862G > A

p. (Gly1288Ser)

RP

¹⁴

F17

BBS9

Deletion located in the region of chr7:33404663–33,409,821

BBS

This report