99-Case Study of Sporadic Aortic Dissection by Whole Exome Sequencing Indicated Novel Disease-Associated Genes and Variants in Chinese Population

Table 3

AD-associated CNVs.

Patient ID	Priority	Chr	GeneName	Func	Size	CNVType
18	H-	16	NDE1, KIAA0430, MPV17L, ABCC6, ABCC1, C16orf45, MIR6506, FOPNL, MYH11, MIR484	Exonic	806641	Dup
25	H-	16	FOPNL, NDE1, ABCC1, KIAA0430, NOMO3, ABCC6, MIR6506, MPV17L, C16orf45, MIR484, MYH11	Exonic	856226	Dup
28	P-	17	SHISA6, MYHAS, SCO1, ADPRM, MAGOH2P, MYH3, LINC00675, PIRT, MYH2, TMEM220-AS1, TMEM220	Exonic	697923	Dup
74	H-	7	COL1A2, CASD1	Exonic	89899	Dup
74	P	12	COL2A1	Exonic	4682	Dup
74	P-	16	MYH11, NDE1	Exonic	21043	Dup
74	P-	17	MYH8, MYHAS	Exonic	6040	Dup
74	P-	19	FBN3	Exonic	8402	Dup
74	P-	19	MYH14	Exonic	13571	Dup
74	P-	2	LOC654841, COL4A3	Exonic	11221	Dup
74	P-	4	COL25A1	Exonic	16573	Dup
74	P-	4	COL25A1	Exonic	37877	Dup
74	P-	5	COL23A1, CLK4	Exonic	317238	Dup
74	P-	8	COL14A1	Exonic	42568	Dup

Patient ID: patient number; priority: CNV pathological rate; H (high): evident in the malignant database (CNVD) and no record in the benign database (DGV); P (possibly deleterious): no record in the benign and malignant database; GeneName: gene symbol; Func: the location of the variant; size: the length of CNV; CNVType: the type of CNV (duplication or deletion).