rs1556405129
|
0.925 |
0.080 |
X |
111410209 |
missense variant |
A/T
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs104894780
|
0.882 |
0.120 |
X |
111401121 |
missense variant |
G/A
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894782
|
0.882 |
0.120 |
X |
111401087 |
missense variant |
G/C;T
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894784
|
0.925 |
0.080 |
X |
111410166 |
missense variant |
C/A;T
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894785
|
0.925 |
0.080 |
X |
111410134 |
stop gained |
G/A;C
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs122457137
|
0.882 |
0.120 |
X |
111410223 |
missense variant |
C/A;T
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs201870761
|
1.000 |
0.080 |
X |
111410089 |
missense variant |
T/A;C
|
snv
|
5.5E-06
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267606317
|
1.000 |
0.080 |
X |
111410094 |
missense variant |
C/T
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs56030372
|
0.882 |
0.120 |
X |
111401108 |
missense variant |
C/A;T
|
snv
|
|
9.5E-06
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783518
|
1.000 |
0.080 |
X |
111301745 |
splice acceptor variant |
T/C
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783519
|
1.000 |
0.080 |
X |
111410284 |
stop gained |
G/A
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783520
|
1.000 |
0.080 |
X |
111410275 |
frameshift variant |
T/-
|
delins
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783521
|
0.925 |
0.080 |
X |
111410271 |
missense variant |
A/G
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783522
|
1.000 |
0.080 |
X |
111410269 |
stop gained |
G/A
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783523
|
0.925 |
0.080 |
X |
111410249 |
missense variant |
C/A
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783524
|
1.000 |
0.080 |
X |
111410245 |
frameshift variant |
TCTT/-
|
delins
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783525
|
1.000 |
0.080 |
X |
111410232 |
missense variant |
C/G
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783526
|
1.000 |
0.080 |
X |
111410229 |
missense variant |
A/C
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783527
|
1.000 |
0.080 |
X |
111410217 |
missense variant |
C/T
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783528
|
1.000 |
0.080 |
X |
111410214 |
missense variant |
T/C
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783529
|
1.000 |
0.080 |
X |
111410212 |
missense variant |
G/A
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783530
|
1.000 |
0.080 |
X |
111410208 |
missense variant |
T/C
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783531
|
1.000 |
0.080 |
X |
111410204 |
missense variant |
G/A;T
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783532
|
1.000 |
0.080 |
X |
111410189 |
stop gained |
G/T
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783533
|
1.000 |
0.080 |
X |
111410181 |
missense variant |
G/A
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|