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. 2018 Dec 20;2018:6359174. doi: 10.1155/2018/6359174

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