Table 2.

List of candidate variants in the affected twin after filtering

Gene	Chromosome	Type	Start position (hg19)	Location region	Reference allele	Mutant allele	Primer sequences
CEP57	11	SNV	95528678	Splicing	A	T	F: 5’-TCTTCAGTAGAAATTCTGGAACCT-3’
							R: 5’-TGGAGGAACATGATGTACAGCTC-3’
CTAGE5	14	Deletion	39784005	Splicing	AT	–	F: 5’-CGTTCCATTTAGAAAGCGAGCC-3’
							R: 5’-GCCACATGCAACACCTCAAA-3’
ORC2	2	Insertion	201778717	Splicing	–	A	F: 5’-CCTTGCTCAGCAGTGGATCT-3’
							R: 5’-AATGCGGATAGGCCAACTAC-3’

SNV: Single nucleotide variation; F: Forward primer; R: Reverse primer.