Table 2.

Summary of next-generation sequencing (NGS)

NGS statistics	Proband	Mother	Father
Raw reads	72,853,546	66,822,418	92,453,366
Reads mapped to GRCh37/hg19	69,824,226	65,763,116	91,052,868
Reads without duplicates	60,567,126	57,777,382	81,818,034
Reads mapped to coding exons	36,095,699	33,572,650	48,445,183
Average coverage of coding exons	76.89×	71.62×	103.45×