Table 1 Summary of all identified variants. Variants of uncertain significance (VUS) are in italics.

RP1

EYS

NM_001142800

c.9405T>A

p.Tyr3135Ter

¹¹

c.1830del

p.His610GlnfsTer26

This study

Yes

RP8

CERKL

NM_001030311.2

c.847C>T

p.Arg283Ter

¹⁰

c.847C>T

p.Arg283Ter

¹⁰

Yes

RP15

USH2A

NM_206933

c.12093del

p.Tyr4031Ter

⁸

c.11241C>G

p.Tyr3747Ter

This study

Yes

RP17

CHM

NM_000390

c.1272_1273delinsCT

p.Gln425Ter

⁴¹

Yes

RP27

RPGR

NM_001034853

c.2232_2235del

p.Asp744GlufsTer70

This study

Yes

RP34

USH2A

NM_206933

c.2276G>T

p.Cys759Phe

⁵⁶

c.5278del

p.Asp1760MetfsTer10

⁸

Yes

RP35

RP1

NM_006269

c.4804C>T

p.Gln1602Ter

⁶⁷

c.1837dup

p.Thr613AsnfsTer6

This study

Yes

RP49

EYS

NM_001142800

c.4045C>T

p.Arg1349Ter

¹²

c.4045C>T

p.Arg1349Ter

¹²

Yes

RP57

TULP1

NM_003322

c.1495 + 1G>C

⁶⁸

c.1495 + 1G>C

⁶⁸

Yes

RP59

MYO7A

NM_000260

c.1200G>T

p.Lys400Asn

⁶⁹

c.5074C>T

p.Gln1692Ter

This study

N/A

RP77

CNGA1

NM_001142564

c.301C>T

p.Arg101Ter

⁷⁰

c.1747C>T

p.Arg583Ter

This study

Yes

RP88

MYO7A

NM_000260

c.3763del

p.Lys1255ArgfsTer8

⁷¹

c.6_9dup

p.Leu4AspfsTer39

This study

Yes

RP91

USH2A

NM_206933

c.11754G>A

p.Trp3918Ter

⁷²

c.3669del

p.Cys1223Ter

This study

Yes

RP106

EYS

NM_001142800

c.14C>A

p.Ser5Ter

This study

c.888del

p.Lys296AsnfsTer43

This study

Yes

RP117

EYS

NM_001142800

c.4045C>T

p.Arg1349Ter

¹²

c.9405T>A

p.Tyr3135Ter

¹¹

Yes

RP153

CERKL

NM_001030311.2

c.847C>T

p.Arg283Ter

¹⁰

c.847C>T

p.Arg283Ter

¹⁰

Yes

RP154

CNGA3

NM_001298

c.162_163insT

p.Arg55Ter

This study

c.162_163insT

p.Arg55Ter

This study

Yes

RP165

ABCA4

NM_000350

c.3322C>T

p.Arg1108Cys

⁷³

c.3322C>T

p.Arg1108Cys

⁷³

Yes

RP67

CERKL

NM_001030311.2

c.847C>T

p.Arg283Ter

¹⁰

c.847C>T

p.Arg283Ter

¹⁰

Yes

RP109

USH2A

NM_206933

c.1570G>A

p.Ala524Val

This study

c.2276G>T

p.Cys759Phe

⁵⁶

Yes

RP141

USH2A

NM_206933

c.2276G>T

p.Cys759Phe

⁵⁶

c.2299del

p.Glu767SerfsTer21

⁷⁴

Yes

RP173

NR2E3

NM_014249

c.932G>A

p.Arg311Gln

⁷⁵

c.932G>A

p.Arg311Gln

⁷⁵

N/A

RP174

RGR

NM_001012720

c.196A>C

p.Ser66Arg

⁷⁶

c.196A>C

p.Ser66Arg

⁷⁶

Yes

RP175

CNGB3

NM_019098

c.1148del

p.Thr383IlefsTer13

⁷⁷

c.852 + 1G>C

This study

Yes

RP176

CERKL

NM_001030311.2

c.847C>T

p.Arg283Ter

¹⁰

c.847C>T

p.Arg283Ter

¹⁰

Yes

RP180

USH2A

NM_206933

c.14565del

p.Asn4856MetfsTer28

This study

c.14565del

p.Asn4856MetfsTer28

This study

Yes

RP182

PDE6A

NM_000440

c.1957C>T

p.Arg653Ter

⁷⁸

c.1705C>A

p.Gln569Lys

⁷⁹

Yes

RP185

CNGA3

NM_001298

c.1228C>T

p.Arg410Trp

⁸⁰

c.829C>G

p.Arg277Gly

⁸¹

Yes

RP196

BBS1

NM_024649

c.1220T>G

p.Met390Arg

⁸²

c.1220T>G

p.Met390Arg

⁸²

Yes

RP166

USH2A

NM_206933

c.14091del

p.Phe4697LeufsTer2

⁷

c.12093del

p.Tyr4031Ter

8

N/A

RP169

CERKL

NM_001030311.2

c.847C>T

p.Arg283Ter

¹⁰

c.356G>A

p.Gly119Asp

⁸³

N/A

RP30

RP1

NM_006269

c.1625C>G

p.Ser542Ter

⁸⁴

c.227T>C

p.Leu76Pro

This study

Yes

RP193

ABCA4

NM_000350

c.4577C>T

p.Thr1526Met

^{36, 85}

c.3386G>T

p.Arg1129Leu

⁸⁶

N/A

RP200

CRB1

NM_201253

c.444_452del

p.Asp148_Asp150del

⁸⁷

c.2843G>A

p.Cys948Tyr

⁸⁸

Yes

RP188

CNGA3

NM_001298

c.1228C>T

p.Arg410Trp

⁸⁰

c.1706G>A

p.Arg569His

⁸¹

N/A

RP40

PRPF31

NM_015629

exons9_13deletion

This study

Yes

RP148

PRPF8

NM_006445

c.6835T>G

p.Trp2279Gly

This study

RP181

PRPF31

NM_015629

c.1165C>T

p.Gln389Ter

This study

No

RP92

PCDH15 CDH23

NM_001142763/ NM_022124

c.733C>T

p.Arg245Ter

⁸⁹

c.8326G>A

p.Gly2776Ser

This Study

Yes