Table 3 Overview of likely spliceogenic variants identified in the discovery cohort

BBS1 c.339T>C;p.(Tyr113 = ) (c.50T>C;p.(Met17Thr))

ES

Manual^a

0.01 AG

0

ø

NA

BBS1 c.808G>A;p.(Gly270Arg)

M

C + M + G + S and SplAI+MEnt

0.27 DL

17.22

ø

NA

CDH23 c.5924-21A>C;p.?

BP

BP Alamut

0.1 AL

0

−76.70

Splicing assays on RNA from frozen whole blood patients’ samples displayed the retention of 205 intronic bases upstream of exon 46 [This study].

CDH23 c.6050-9G>A;p.?

NCSS

SplAI+MEnt

0.99 AG

23.47

ø

Splicing assays on RNA from fresh whole blood patients’ samples demonstrated the creation of a novel acceptor site of exon 46 resulting in the frameshift addition of 7 bp in exon 46⁴⁹.

CDH23 c.6713-1062G>A; p.?

DI

SplAI+MEnt

0.28 AG

30.75

ø

Splicing assays on RNA from frozen whole blood patients’ samples demonstrated the insertion of an intronic 70 bp region between exons 48–49 [This study].

CHD7 c.7608+6T>C;p.?

NCSS

SplAI+MEnt

0.63 DL

25.04

ø

NA

CNGB3 c.1663-1205G>A;p.?

DI

SplAI+MEnt

0.90 DG

21.05

ø

Minigene assays showed a pseudoexon of 34 nucleotides between exons 14–15⁵⁵.

ERCC2 c.2047-38A>G;p.?

BP

BP Alamut

0.04 AG

0

−65.20

NA

EYS c.5928-2A>G;p.?

CSS

C + M + G + S and SplAI+MEnt

0.99 AL

36.72

ø

NA

GRN c.933+3A>C;p.?

NCSS

SplAI+MEnt

0.5 DL

51.78

ø

NA

MED12 c.6268-2A>G;p.?

CSS

C + M + G + S and SplAI+MEnt

1 AL

54.78

ø

NA

MERTK c.2220G>A;p.(Ala740 = )

ES

SplAI+MEnt

0.99 AG

59.23

ø

NA

PDE6B c.1593A>T;p.(Arg531 = )

ES

SplAI+MEnt

0.95 DG

64.17

ø

NA

PDE6B c.1107+3A>G;p.?

NCSS

SplAI+MEnt

0.61 DL

29.08

ø

NA

PDE6B c.1923C>T; p.(Thr641 = )

ES

Manual^a

0.09 AG

3.74

ø

NA

PRPS1 c.705-62_705-55del;p.?

BP

BP Alamut

ø

0

−99.13

NA

RAX2 c.216+99A>T;p.?

DI

SplAI+MEnt

0.58 DG

48.27

ø

NA