Table 1 RPE65 variants identified in this cohort of patients

c.1399C>G

p.Pro467Ala

Missense

E13

F1-1, F3-1

P

[8, 13]

c.272G>A

p.Arg91Gln

Missense

E4

F2-1

P

[14,15,16]

c.271C>T

p.Arg91Trp

Missense

E4

F2-1, F16-1

P

[17, 18]

c.1338G>T

p.Arg446Ser

Missense

E12

F5-1, F7-1, F7-2

P

[4, 19]

c.1543C>T

p.Arg515Trp

Missense

E14

F6-1, F6-2

P

[20, 21]

c.1444G>A

p.Asp482Asn

Missense

E13

F6-1, F6-2, F17-1

LP

Novel

c.1255C>T

p.Pro419Ser

Missense

E12

F8-1

VUS

Novel

c.202C>T

p.His68Tyr

Missense

E3

F8-1

P

[22, 23]

c.1590C>A

p.Phe530Leu

Missense

E14

F9-1

P

[4, 24]

c.997G>C

p.Gly333Arg

Missense

E9

F10-1

P

[25]

c.334T>A

p.Cys112Ser

Missense

E4

F10-1

VUS

Novel

c.131G>A

p.Arg44Gln

Missense

E3

F12-1

P

[14, 26]

c.200T>G

p.Leu67Arg

Missense

E3

F13-1

P

[27, 28]

c.1304A>G

p.Tyr435Cys

Missense

E12

F13-1

P

[29]

c.1039C>T

p.Arg347Cys

Missense

E10

F14-1

VUS

Novel

c.1078G>C

p.Ala360Pro

Missense

E10

F14-1

LP

[30]

c.493C>T

p.Gln165*

Nonsense

E5

F4-1, F4-2

P

[4]

c.1380G>A

p.Trp460*

Nonsense

E13

F15-1

P

[31]

c.94+2T>A

-

Splicing

I2

F1-1

LP

Novel

c.998+1G>A

-

Splicing

I10

F3-1

P

[13]

c.354-2A>G

-

Splicing

I5

F7-1, F7-2

LP

Novel

c.858+1del

-

Splicing

I9

F9-1, F12-1

P

[8]

c.376del

p.Val126fs*1

Frameshift

EX5

F16-1

LP

Novel

c.806_809delinsTGGAGCCATGAAG

p.SerLeu269MetGluProTer

Frameshift

EX8

F17-1

P

Novel

c.837del

p.Phe279Leufs*46

Frameshift

EX8

F11-1

LP

Novel

c.886del

p.Arg296fs

Frameshift

EX9

F15-1

LP

Novel