|
1
|
5
|
c.506A > T
|
p.Asn169Ile
|
5
|
homo
|
Reunert (2016) EBioMedicine 4
|
|
2
|
5
|
c.551G > A
|
p.Cys184Tyr
|
14,20
|
homo
|
Chamova (2016) Eur Neurol 75
|
|
3
|
8
|
c.1070C > T
|
p.Ser357Leu
|
25
|
homo
|
Zhonghua Er Ke Za Zhi. 2016
|
|
4
|
8
|
c.1180 T > C
|
p.Tyr394His
|
31
|
homo
|
Tonekaboni. Iranian Journal of Child Neurology, 2015
|
|
5
|
8
|
c.1192C > T
|
p.His398Tyr
|
17,33
|
homo
|
Tonekaboni. Iranian Journal of Child Neurology, 2015
|
|
6
|
9
|
c.1415 T > C
|
p.Leu472Pro
|
27,35
|
homo
|
ASL SN, Vakili R,. Iranian journal of child neurology, 2017
|
|
7
|
9
|
c.1433A > C
|
p.Asn478Thr
|
29,30,34
|
homo
|
Tonekaboni. Iranian Journal of Child Neurology, 2015
|
|
8
|
13
|
c.1990G > A
|
P.Val664Met
|
4,6,21
|
hetero
|
Park (2003) Hum Mutant 22, 313
|
|
9
|
18
|
c.2776G > A
|
p.Ala926Thr
|
1,11
|
homo
|
Fernandez-Valero (2005) Clin Genet 68, 245
|
|
10
|
21
|
c.3100G > A
|
p.Gly1034Arg
|
16,26,28
|
homo
|
Yang (2005) J Neurol Neurosurg Psychiatry 76,592
|
