Table 4.

Loss of function mutations detected in the SVID and HEX cohort.

Cohort	Gene	Position	rsID	Ref/Alt	Genomic change	Aa change	Carrier freq (%)	MAF(%)	Hex70 (%)
SVID	MME	3: 154834478	rs749320057	AC/A	c.467del	p.P156Lfs*14	1/96 (1)	0.5	0
SVID	PLAT	8: 42033519	rs1804182	G/A	c.1681C > T	p.R561*	1/96 (1)	0.5	—
SVID	IDE	10: 94238404	rs763710639	G/GGT	c.1881_1882insAC	p.L628Tfs*5	1/96 (1)	0.5	—
SVID	IDE	10: 94333763	rs533083105	AG/A	c.13del	p.L5fs	1/96 (1)	0.5	0.35
SVID	MMP3	11: 102713159	rs781898035	TACC/T	c.499_499 + 2del	p.E167del	1/96 (1)	0.5	—
SVID	LRP1	12: 57602503	NOVEL	C/A	c.12048 C > A	p.Y4016*	1/96 (1)	0.5	—
SVID	LRP1	12: 57603939	rs757410385	G/GC	c.12575dup	p.D4193Rfs*9	1/96 (1)	0.5	0.14
SVID	MEP1B	18: 29784212	rs200539508	C/T	c.436 C > T	p.R146*	1/96 (1)	0.5	0
SVID	APP	21: 27394181	rs764406483	TGTG/T	c.837_839del	p.T280del	2/96 (2)	1	—
SVID	LRP1	12:57605739	rs759104743	TTGC/T	c.13300_13302del	p.L4434del	1/96 (1)
HEX	ADAM17	2:9630398		GATC/G		p.Asp794del	1/368 (0.3)	0.0014	0.0014
HEX	BACE1	11:117160453	rs758335005	G/T		p.Tyr445*	1/324 (0.3)	0.0015	0.0015
HEX	APP	21:27394181	rs768084853	TGTGGTGGTG/TGTGGTG		p.Thr280del	1/101 (1)	0.005	0.005
HEX	APBA1	9:72131320	rs768254638	GTCC/G		p.Glu268del	1/360 (0.2)	0.0014	0.0014
HEX	ACE	17:61562376		C/T		p.Gln50*	1/367 (0.2)	0.0014	0.0014
HEX	CST3	20:23615971		C/A		p.Glu93*	1/367 (0.2)	0.0014	0.0014
HEX	CST3	20:23615984	rs760409425	G/T		p.Tyr88*	1/366 (0.2)	0.0027	0.0027
HEX	LRP1	12:57605739	rs759104743	TTGC/T		p.Leu4432del	1/368 (0.2)	0.0014	0.0014
HEX	MEP1B	18:29796983		C/T		p.Gln597*	1/366 (0.2)	0.0014	0.0014
HEX	ECE2	3:184002778	rs769984677	G/T		p.Glu463Ter	1/368 (0.2)	0.0014	0.0014

Aa, amino-acid change. Freq, frequencies; MAF, minor allele frequency; SVID, small vessel ischemic disease.