Table 5.

Splicing variants found in the Czech cohort. The Proof of Pathogenicity column provides information on which the variant evaluation is based. 'MP' indicates multiple published patients (including this study), while 'FP' signifies functional proof of variant impact with referenced articles containing such evidence. The resources are indicated in the References column, articles containing functional proof are [17, 19, 35, 66, 73]. Numbers of patients and probands of our cohort are given in corresponding columns. ^# indicates previously published probands/patients of our cohort, and x in ^x# indicates the number of them. Two substitutions in the position c.550 and the deletion c.1225_1249 + 19del were included in this table because their pathomechanism is primarily disruption of mRNA splicing

Variant cDNA	Intron	Proof of pathogenicity	ACMG evaluation	Number of probands	Number of patients	References
c.-22-19_-22-4del	1	MP	Likely pathogenic	1	2	[36, 65]
c.51 + 5G > A	2	MP, FP [35, 66]	Pathogenic	1	1	[30, 31, 35, 66]
c.550G > A	exon 3	MP, FP [17]	Pathogenic	1#	1#	[17, 28, 31, 32, 35, 36, 38–40, 42, 45, 50, 51, 56, 58, 62, 67–70]
c.550G > T	exon 3	MP, FP [17]	Pathogenic	1#	1#	[17, 36, 56]
c.550 + 3A > C	3	FP [this study]	Likely pathogenic	1	1	novel
c.551-2A > G	3	MP, FP [17]	Pathogenic	21#	111#	[17, 36, 49, 62]
c.685 + 1del	4	FP [17]	Pathogenic	1#	41#	[17]
c.685 + 2_685 + 13del	4	FP [17]	Pathogenic	1#	41#	[17]
c.686-12A > G	4	MP, FP [17]	Pathogenic	1#	1#	[17, 44, 47, 55]
c.686-7C > G	4	MP, FP [this study]	Pathogenic	1	2	[36]
c.686-1G > T	4	MP	Pathogenic	1	1	[38]
c.1029 + 384A > G	6	MP, FP [19]	Pathogenic	31#	1512#	[19, 34, 71, 72]
c.1225_1249 + 19del	7	FP [17]	Pathogenic	1#	21#	[17]
c.1249 + 1G > A	7	MP	Pathogenic	1	1	[37, 43, 49, 61]
c.1249 + 2 T > C	7	MP	Pathogenic	1	1	[56]
c.1249 + 5G > A	7	MP, FP [17, 73]	Pathogenic	1#	1#	[17, 36, 65, 73]