rs137853311
|
1.000 |
0.080 |
X |
154364582 |
missense variant |
G/A
|
snv
|
1.1E-05
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2001 |
2006 |
rs137853313
|
1.000 |
0.080 |
X |
154371130 |
missense variant |
G/C
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2001 |
2006 |
rs137853315
|
0.882 |
0.200 |
X |
154368081 |
missense variant |
G/A
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2001 |
2006 |
rs28935169
|
1.000 |
0.080 |
X |
154371001 |
missense variant |
T/A
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2001 |
2006 |
rs137853312
|
0.790 |
0.160 |
X |
154360238 |
missense variant |
G/A
|
snv
|
|
9.3E-06
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2005 |
2006 |
rs137853317
|
0.827 |
0.120 |
X |
154367878 |
missense variant |
G/A
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2003 |
2007 |
rs1557176315
|
0.851 |
0.120 |
X |
154353914 |
splice donor variant |
C/G
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2006 |
2015 |
rs1557177485
|
0.851 |
0.120 |
X |
154359407 |
splice acceptor variant |
C/A
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2006 |
2015 |
rs786205186
|
0.827 |
0.120 |
X |
154362417 |
splice donor variant |
C/G;T
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2006 |
2015 |
rs797045044
|
0.827 |
0.240 |
X |
154358228 |
missense variant |
C/T
|
snv
|
|
9.4E-06
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2016 |
2016 |
rs1557175424
|
0.925 |
0.080 |
X |
154350030 |
splice donor variant |
C/T
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1057516198
|
1.000 |
0.080 |
X |
154359008 |
stop gained |
G/A
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060500716
|
0.851 |
0.120 |
X |
154360127 |
missense variant |
G/A
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060500717
|
1.000 |
0.080 |
X |
154352226 |
stop gained |
G/A;C
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060500718
|
0.851 |
0.120 |
X |
154353329 |
frameshift variant |
AG/-
|
del
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs112363874
|
1.000 |
0.080 |
X |
154352449 |
splice acceptor variant |
T/A;G
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137853310
|
0.925 |
0.080 |
X |
154367920 |
stop gained |
G/A
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557177086
|
0.851 |
0.120 |
X |
154357527 |
frameshift variant |
GTGTAGCGACCTG/-
|
delins
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557177279
|
0.851 |
0.120 |
X |
154358440 |
splice donor variant |
TTACCTCC/-
|
delins
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557177623
|
0.851 |
0.120 |
X |
154359846 |
stop gained |
C/A;T
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557177636
|
0.851 |
0.120 |
X |
154359897 |
frameshift variant |
G/-
|
delins
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557177738
|
0.851 |
0.120 |
X |
154360266 |
stop gained |
C/A
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557178535
|
0.851 |
0.120 |
X |
154363633 |
intron variant |
A/T
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557179325
|
0.925 |
0.080 |
X |
154366562 |
splice region variant |
C/T
|
snv
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557179357
|
0.851 |
0.120 |
X |
154366618 |
stop gained |
-/TATTGGCGGT
|
delins
|
|
|
Periventricular Heterotopia, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|