Table 4.

Numbers and Types of Variants Detected by APEX Technology and NGS

	Total	Null				Non-Null		Benign Missense
		Splice-Site Altering	Nonsense	Frameshift	Unknown	In-Frame Deletion	Disease-Causing Missense
Variants detected by prescreening with APEX	42	4	4	2	1	0	23	8
New variants detected by NGS alone	42 (33)	9 (7)	6 (4)	3 (3)	0 (0)	1 (1)	20 (16)	3 (2)
Gross total	84 (33)	13 (7)	10 (4)	5 (3)	1 (0)	1 (1)	43 (16)	11 (2)

Numbers in parentheses indicate the numbers of novel variants that have never been reported. Two variants were detected only on APEX array, but not identified by NGS; one frameshift variant (p.Q1513fs) and one disease-causing missense variant (p.R1129H).