RNF213 Variant Diversity Predisposes Distinct Populations to Dissimilar Cerebrovascular Diseases

Table 1

RNF213 variants diversity in cerebrovascular diseases (Italic represents variant associated with hemorrhagic type MMD; bold represents variant related to ischemic type MMD).

Diseases	Nucleotide	Amino acid	Reference
MMD	c.1407G>T	p.Q469H	Schilter (2017) Am J Med Genet A 173, 2557
	c.1549G>A	p.G517R	Shoemaker (2015) G3 (Bethesda) 6, 41
	c.1587_1589delCGC		Cecchi (2014) Stroke 45, 3200
	c.2986G>A	p.E996K	Akagawa (2018) Hum Genome Var 5, 17060
	c.4421C>T	p.S1474F	Shoemaker (2015) G3 (Bethesda) 6, 41
	c.4865C>T	p.A1622V	Lee (2015) J Neurol Sci 353, 161
	c.5180C>T	p.T1727M	Zhang (2017) J Neurosurg 126, 1106
	c.10997T>C	p.M3666T	Shoemaker (2015) G3 (Bethesda) 6, 41
	c.11671A>G	p.M3891V	Kamada (2011) J Hum Genet 56, 34
	c.11797G>A	p.V3933M	Lee (2015) J Neurol Sci 353, 161
	c.11884A>G	p.N3962D	Liu (2011) PLoS One 6, e22542
	c.11945A>G	p.K3982R	Shoemaker (2015) G3 (Bethesda) 6, 41
	c.11990G>A	p.C3997Y	Cecchi (2014) Stroke 45, 3200
	c.12020C>G	p.P4007R	Wu (2012) PLoS One 7, e48179
	c.12037G>A	p.D4013N	Cecchi (2014) Stroke 45: 3200
	c.12055C>T	p.R4019C	Kobayashi (2016) PLoS One 11: e0164759
	c.12124G>A	p.E4042K	Kobayashi (2016) PLoS One 11, e0164759
	c.12173A>C	p.H4058P	Akagawa (2018) Hum Genome Var 5, 17060
	c.12185G>A	p.R4062Q	Moteki (2015) J Am Heart Assoc 4: e001862
	c.12226A>G	p.I4076V	Cecchi (2014) Stroke 45, 3200
	c.12343_12345delAAA		Cecchi (2014) Stroke 45, 3200
	c.12353C>T	p.S4118F	Harel (2015) Am J Med Genet A 167, 2742
	c.12391C>T	p.R4131C	Lee (2015) J Neurol Sci 353, 161
	c.12437T>C	p.V4146A	Kobayashi (2016) PLoS One 11, e0164759
	c.12478A>C	p.K4160Q	Zhang (2017) J Neurosurg 126, 1106
	c.12554A>C	p.K4185T	Smith (2014) Int J Stroke 9, E26
	c.12711C>G	p.D4237E	Cecchi (2014) Stroke 45, 3200
	c.13100A>T	p.Q4367L	Wu (2012) PLoS One 7, e48179
	c.13195G>A	p.A4399T	Wu (2012) PLoS One 7, e48179
	c.13699G>A	p.V4567M	Kamada (2011) J Hum Genet 56, 34
	c.13756A>C	p.T4586P	Wu (2012) PLoS One 7, e48179
	c.13822C>T	p.P4608S	Liu (2011) PLoS One 6, e22542
	c.13891C>G	p.L4631V	Wu (2012) PLoS One 7, e48179
	c.14030G>T	p.W4677L	Schilter (2017) Am J Med Genet A 173, 2557
	c.14195A>C	p.K4732T	Cecchi (2014) Stroke 45, 3200
	c.14248G>A	p.E4750K	Moteki (2015) J Am Heart Assoc 4, e001862
	c.14293G>A	p.V4765M	Kamada (2011) J Hum Genet 56, 34
	c.14428A>G	p.R4810G	Shoemaker (2015) G3 (Bethesda) 6, 41
	c.14429G>A	p.R4810K	Kamada (2011) J Hum Genet 56, 34
	c.14587G>A	p.D4863N	Liu (2011) PLoS One 6, e22542
	c.14780G>A	p.R4927Q	Moteki (2015) J Am Heart Assoc 4, e001862
	c.14850G>C	p.E4950D	Liao (2017) Environ Health Prev Med 22: 75
	c.15062C>T	p.A5021V	Liu (2011) PLoS One 6, e22542
	c.15408G>A	p.M5136I	Wu (2012) PLoS One 7, e48179
	c.15480C>G	p.D5160E	Liu (2011) PLoS One 6, e22542
	c.15487G>A	p.V5163I	Cecchi (2014) Stroke 45, 3200
	c.15527A>G	p.E5176G	Liu (2011) PLoS One 6, e22542
IA	c.1214_1216delGAG		Zhou (2016) Am J Hum Genet 99, 1072
	c.1699A>G	p.M567V	Zhou (2016) Am J Hum Genet 99, 1072
	c.2017C>T	p.R673W	Zhou (2016) Am J Hum Genet 99, 1072
	c.3674A>G	p.D1225G	Zhou (2016) Am J Hum Genet 99, 1072
	c.7312C>T	p.R2438C	Zhou (2016) Am J Hum Genet 99, 1072
	c.8476G>A	p.A2826T	Zhou (2016) Am J Hum Genet 99, 1072
	c.9562G>A	p.V3188M	Zhou (2016) Am J Hum Genet 99, 1072
	c.9709C>A	p.Q3237K	Zhou (2016) Am J Hum Genet 99, 1072
	c.11415delC		Zhou (2016) Am J Hum Genet 99, 1072
	c.12496G>A	p.D4166N	Zhou (2016) Am J Hum Genet 99, 1072
	c.12854G>A	p.S4285N	Zhou (2016) Am J Hum Genet 99, 1072
	c.13074G>A	p.K4358=	Zhou (2016) Am J Hum Genet 99, 1072
	c.13577T>C	p.I4526T	Zhou (2016) Am J Hum Genet 99, 1072
	c.15275G>A	p.R5092Q	Zhou (2016) Am J Hum Genet 99, 1072
ICASO	c.14429G>A	p.R4810K	Miyawaki (2012) Stroke 43, 3371
			Miyawaki (2013) Stroke 44, 2894