Table 2. Variant analysis in the patient.

		M1	M2
Variants	cDNA mutation*	c.203G>T	c.1128G>A
	Predicted protein changes	p.S68I	p.W376*
	Validate protein changes	p.D24Vfs*5	p.W376*
	Mutation type	Splicing	Nonsense
	Genotype	Heterozygous	Heterozygous
Allele frequency	ExAC Browser	0	0
	GnomAD	0	0.00000397709
	1000 Genomes Project	0	0
Function prediction	dpsi_zscore†	–2.706	–3.021
	SpliceAI score‡	0.86	-

M1 refers to mutation 1; M2 refers to mutation 2.

^*NCBI reference sequence number of CFAP52 is NM_001080556.2 (https://www.ncbi.nlm.nih.gov/genbank/).

^†Absolute values of the score >2 are considered to be deleterious.

^‡Scores >0.5 are suggested to affect splicing.