Table 3 Additional pathogenic variants presented in patients may not be relevent

RD11–03

RP

Autosomal dominant

RHO

NM_000539.3

c.574dup

p.Y192Lfs*139

Heterozygous

Novel

(predicted as pathogenic)

CNGA3

NM_001298.2

c.1810C > T

p.Q604*

Heterozygous

Novel

(predicted as pathogenic)

RD20–07

CRD

Autosomal dominant

PRPH2

NM_000322.4

c.514C > T

p.R172W

Heterozygous

CM930639

[28]

CERKL

NM_001030311.2

c.847C > T

p.R283*

Heterozygous

CM040509/rs121909398

[47]

RD14–08

RP

Autosomal recessive

USH2A

NM_206933.2

c.2276G > T

p.C759F

Heterozygous

CM001372

[30]

USH2A

c.4108G > C

p.V1370 L

Heterozygous

Novel

(predicted as pathogenic)

GUCY2D

NM_000180.3

c.2950 T > C

p.C984R

Heterozygous

Novel

(predicted as pathogenic)

RD12–02

XLRP

X-linked

RPGR

NM_000328.2

c.1088_1089delinsA

p.V363Dfs*18

Hemizygous

Novel

(predicted as pathogenic)

CACNA1F

NM_005183.3

c.1619 T > C

p.F540S

Hemizygous

Novel

(predicted as pathogenic)

TMEM67

NM_153704.5

c.1387C > T

p.R463*

Heterozygous

CM110634

[48]

RD12–01

RP

Sporadic

RPGR

NM_000328.2

c.197A > G

p.Q66R

Hemizygous

Novel

(predicted as pathogenic)

TYR

NM_000372.4

c.721G > A

p.A241T

Heterozygous

CM145799

(DM?)/rs538081629

[49]

RD13–02

RP

Sporadic

RHO

NM_000539.3

c.68C > A

p.P23H

Heterozygous

CM900197

[36]

ABCA4

NM_000350.2

c.1610G > A

p.R537H

Heterozygous

CM032805

[50]

RD12–07

RP

Sporadic

RHO

NM_000539.3

c.936 + 1G > T

IVS4 + 1G > T

Heterozygous

CS920776

[37]

TYRP1

NM_000550.2

c.1354A > G

p.M452 V

Heterozygous

CM081465

[51]

RD13–08

Achromatopsia

Sporadic

CNGB3

NM_019098.4

c.1148delC

p.T383Ifs*13

Heterozygous

CD001927

[52]

ABCA4

NM_000350.2

c.6089G > A

p.R2030Q

Heterozygous

CM990070/rs61750641

[53]

RPGRIP1

NM_020366.3

c.1767G > T

p.Q589H

Heterozygous

CM057749/rs34067949

[45]