2.

基因信息总览

Summary of genetic information

Family	AD	TAA	Other CVD	MFS	Gene	Nucleotide	Protein	Classification	SIFT	Polyphen2_HDIV
AD: aortic dissection; TAA: Thoracic aortic aneurysm; CVD: Cardiovascular diseases; MFS: Mafan syndrome; Patho: Pathogenic; VUS: Variants of Uncertain significance; SIFT: D: Deleterious (score≤0.05), T: Tolerated (score > 0.05); Polyphen2_HDIV: D: Probably damaging (score≥0.957), P: Possibly damaging (0.453≤score≤0.956), B: Benign (score≤0.452).
KS0101		Y		Y	FBN1	c.4930C > T	p. R1644X	Patho
KS0301		Y	AMI	Y	MYLK	c.1021A > G	p. T341A	VUS	D	P
					ELN	c.1828G > C	p. G610R	Benign	D	D
KS0401		Y	AR	Y	COL5A2	c.2498C > T	p. P833L	Likely benign	D	D
KS0501		Y	AR; AS		MYLK	c.1327C > T	p. P443S	Benign	D	D
					FLNA	c.4042C > A	p. P1348T	VUS	T	B
					PDIA2	c.1403C > T	p. P468L	VUS	D	P
					APC	c.7877C > A	p. T2626N	VUS	T	B
					NFATC1	c.230C > T	p. P77L	VUS	D	P
					FLT1	c.1437-5- > T
					ZNF236	c.995C > T	p. T332M	VUS	D	D
KS0601		Y	AR		SMAD2	c.235A > G	p. S79G	VUS	T	B
KS0701		Y	AR	Y	ELN	c.1232T > G	p. V411G	Benign	D	P
KS1101	Y				FBN1	c.4187C > T	p. T1396I	VUS	T	B
KS1301	Y		MI		COL3A1	c.3145C > A	p. P1049T	VUS	D	D
					FBN2	c.8592G > A	p.M2864I	VUS	T	B
KS1401		Y			COL5A1	c.4135C > T	p. P1379S	Benign	D	D
					FLT1	c.1437-5- > T
					NOTCH3	c.3399C > A	p.H1133Q	VUS	D	P
KS1501		Y	AR		COL4A5	c.3029A > G	p. N1010S	VUS	T	B
					ELN	c.1828G > C	p. G610R	Benign	D	D
					COL5A1	c.1588G > A	p. G530S	Benign	T	B
KS1601		Y	AS		COL5A1	c.5326T > C	p. Y1776H	VUS	T	B
					ELN	c.1828G > C	p. G610R	Benign	D	D
					SKI	c.185C > G	p. A62G	Benign	D	D