Table 1.

Filtering parameters per patient

Filtering criterion	III:1	III:2	III:3	Mean
Total variant count	36 290	36 304	34 867	35 820
Retain homozygous variants in autozygous intervals	258	269	280	269
Retain variants with a dbSNP/ESP5400 minor allele frequency ≤1%	14	13	9	12
Retain coding and invariant splice-site variants	7	7	5	6