Table 2.

Variants detected via paired-end or soft-clipped signal based SV analysis (Manta) in exomes, considered to be causative for the corresponding rare diseases.

	ERN RND	ERN ITHACA	ERN NMD	ERN GENTURIS
Number of affected individuals	2.343	1.892	1.632	357
Number of index patients	2.2	1.821	1.499	340
Known disease genes in gene list	1.82	3.081	611	230
Number of candidate variants, after filtering	798	1.404	1.519	15
Number of samples with SVs, after filtering	487	868	606	15
Number of solved index patients/all affected patients	7 (0.32%) / 11	9 (0.49%) / 9	6 (0.4%) / 9	1 (0.29%) / 3
Percentage of causal SVs among investigated SVs	1.37%	0.64%	0.59%	20%