Table 2 Summarized overview of the 5'UTR variants that were prioritized as candidates

F1^a

GE

Macular dystrophy

Sporadic (AR)

RDH12

chr14:67722520C>T

NM_152443.3: c.-123C>T

Heterozygous

0.00008544

uAUG gain: uORF with a stop codon in 5’UTR

Yes

No

Thompson et al., 2005 [96]

chr14:67729233G>A

NM_152443.3: c.701G>A (p.Arg234His)

Heterozygous

0.00008544

-

-

Thompson et al., 2005 [96]

chr14:67729258_67729266del

NM_152443.3: c.735_743del (p.Cys245_Leu247del)

Heterozygous

Absent

-

-

Ba-Abbad et al., 2020 [97]

F2

GE

Rod-cone dystrophy

Sporadic (AR)

NPHP4

chr1:5986310G>A

NM_015102.5: c.-21C>T

Heterozygous

0.00001972

uAUG gain: uORF out of frame and overlapping with CDS

Not available

Yes (if padded)

This study

chr1:5961845C>G

NM_015102.5: c.622G>C (p.Val208Leu)

Heterozygous

Absent

-

-

F3

GE

Macular dystrophy

Sporadic (AR)

NMNAT1

chr1:9943515G>A

NM_022787.4: c.-57G>A

Heterozygous

Absent

Splice donor site loss

Yes

No

This study

chr1:9982341G>C

NM_022787.4: c.480G>C (p.Leu160Phe)

Heterozygous

0.000006573

-

-

F4

GE

LCA or Early-Onset Severe Retinal Dystrophy

AD

PRPF31

chr19:54115798G>A

NM_015629.4: c.-9+1G>A

Heterozygous

Absent

Splice donor site loss/gain

Yes

No

Daich Varela et al., 2023 [49]

F5

GE

Rod-cone dystrophy

Sporadic (AD)

PRPF31

chr19:54115798G>T

NM_015629.4: c.-9+1G>T

Heterozygous

Absent

Splice donor site loss/gain

De novo

No

Liu et al., 2008 [98]

F6

GE

Familial exudative vitreoretinopathy

Sporadic (X-linked)

NDP

chrX:43958715C>T

NM_000266.4: c.-70G>A

Hemizygous

Absent

Splice donor site gain

Yes

Yes

Daich Varela et al., 2023 [49]

F7

GE

Rod-cone dystrophy

Sporadic (AR)

RD3

chr1:211492150C>T

NM_001164688.2: c.-394G>A

Homozygous

Absent

Change in secondary structure and/or retinal TSS

Yes

No

This study

F8

GE

LCA or Early-Onset Severe Retinal Dystrophy

Sporadic (AR)

MERTK

chr2:111898611G>A

NM_006343.3: c.-125G>A

Homozygous

0.00002632

Change in secondary structure and/or retinal TSS

Yes

Yes

This study

F9

GE

Cone Dysfunction Syndrome

AD

PAX6

chr11:31806455A>G

NM_001368894.2: c.-44T>C

Heterozygous

Absent

Change in secondary structure

Yes

Yes

This study

F10

CMGG

Retinal dystrophy with macular involvement

AR

ARL3

chr10:102714363C>T

NM_004311.4: c.-88G>A

Heterozygous

Absent

Change in secondary structure

Yes

Yes (if padded)

This study

F11

CMGG

Rod-cone dystrophy/BBS

Sporadic (AR)

PRPF4

chr9:113275738C>T

NM_001244926.2: c.-6C>T

Heterozygous

Absent

Alteration of primary Kozak consensus

Not available

Yes

This study