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

Table 1

AD-associated SNPs and InDels identified in 99 patients.

Patient ID	Avsnp	REF	ALT	GeneName	Func	ACMG	ClinVar
3	rs727503057	G	A	FBN1	Exonic	Likely pathogenic	Pathogenic
6	rs267606902	C	T	MYH11	Exonic	Likely pathogenic	Pathogenic
13	rs532989312	G	A	EFEMP2	Exonic	Likely pathogenic
13		T	C	FBN1	Exonic	Pathogenic
17	rs779131465	A	G	TGFBR2	Splicing	Pathogenic
20		C	T	FBN2	Splicing	Pathogenic
20	rs104893809	C	T	TGFBR2	Exonic	Likely pathogenic	Pathogenic
35		A	G	FBN1	Splicing	Likely pathogenic
36		G	A	TGFBR2	Splicing	Pathogenic
38		T	C	COL3A1	Exonic	Pathogenic
45	rs193922219	C	T	FBN1	Splicing	Pathogenic	Pathogenic
89		C	A	FBN1	Exonic	Pathogenic
98		C	CAGAA	MYLK	Exonic	Likely pathogenic

Patient ID: patient number; Avsnp: the dbSNP ID (https://www.ncbi.nlm.nih.gov/snp/); REF: the base in reference genome; ALT: the base in our study; GeneName: gene symbol; Func: the location of the variant; ACMG: the ACMG pathological rate; ClinVar: the ClinVar database pathological rate.