Table 1. Genes analyzed in this study and methods.

Symbol	Protein	snRNP complex	# exons	Screening method	# screened patients
EFTUD2	Elongation factor Tu GTP binding domain containing 2- 116 kDa	U5 [13]	28	Nextera-NGS	200
PRPF4	PRP4 pre-mRNA processing factor 4 homolog – 60 kDa	U4/U6 [17]	14	Nextera-NGS	200
NHP2L1	NHP2 non-histone chromosome protein 2-like 1- 15.5 kDa	U4/U6.U5 [16]	4	Sanger	303
AAR2	AAR2 splicing factor homolog	U5 [15]	4	Sanger	187