Abstract 175 Table 1

Mutations in our cohort linked with aortic disease in HGMD

Gene	Base substitution	Amino acid substitution	Number in cohort	Minor Allele Frequency (ExAC,%)	Disease association	Evidence of pathogenicity

*COL1A2*	c.2123G >A	p. Arg708Gln	1	0.06	Marfan	Patient + affected father; functional confirmation
*COL3A1*	c.2002C >A	p. Pro668Thr	3	0.17	Ehlers Danlos	Single case
*FBN1*	c.7379A >G	p. Lys2460Arg	1	0.007	Marfan	Single case
	c.6700G >A	p. Val²234Met	1	0.079	Marfan	Single case
	c.3422C >T	p. Pro1141Leu	1	0.072	Marfan	Single case
*MYH11*	c.4604G >A	p. Arg1535Gln	2	0.23	FTAA	Single case
*MYLK*	c.4195G >A	p. Glu1399Lys	1	0.044	FTAA	Single case
*MYLK*	c.3637G >A	p. Val1213Met	2	0.010	FTAA	Single case
*TGFBR1*	c.1433A >G	p. Asn478Ser	1	0.028	Loeys Dietz	Single case
*TGFBR2*	c.1119G >A	p. Met373Ile	1	0.139	Loeys Dietz	Single case
	c.1159G >A	p. Val387Met	2	0.116	Loeys Dietz	2 family members; functional confirmation
	c.1657T >A	p. Ser553Thr	1	0.14	Loeys Dietz	2 separate case series found variant