|
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 |
|