rs1057520413
|
1.000 |
0.080 |
2 |
165310406 |
missense variant |
G/A
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060503101
|
0.925 |
0.080 |
2 |
165388782 |
missense variant |
C/T
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060503102
|
0.925 |
0.080 |
2 |
165388682 |
stop gained |
C/T
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553461662
|
0.925 |
0.080 |
2 |
165377611 |
frameshift variant |
-/T
|
delins
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553462227
|
0.925 |
0.080 |
2 |
165381148 |
missense variant |
T/C
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553463513
|
1.000 |
0.080 |
2 |
165388923 |
missense variant |
G/C
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553463516
|
0.925 |
0.080 |
2 |
165388930 |
frameshift variant |
C/-
|
delins
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553463718
|
1.000 |
0.080 |
2 |
165389357 |
missense variant |
C/T
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553567561
|
0.925 |
0.080 |
2 |
165309431 |
missense variant |
T/G
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553568927
|
0.925 |
0.080 |
2 |
165313919 |
frameshift variant |
-/A
|
delins
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553569054
|
0.925 |
0.080 |
2 |
165314067 |
stop gained |
C/T
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553569662
|
0.925 |
0.080 |
2 |
165315616 |
frameshift variant |
AGAA/-
|
delins
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553569789
|
0.925 |
0.080 |
2 |
165315687 |
stop gained |
A/T
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553583659
|
0.925 |
0.080 |
2 |
165354306 |
frameshift variant |
A/-
|
delins
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1558886061
|
0.925 |
0.080 |
2 |
165389037 |
missense variant |
G/A
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1558886146
|
0.925 |
0.080 |
2 |
165389112 |
missense variant |
A/G
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1558886168
|
0.925 |
0.080 |
2 |
165389122 |
frameshift variant |
C/-
|
del
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1559352550
|
0.925 |
0.080 |
2 |
165309404 |
missense variant |
A/G
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1559353540
|
0.925 |
0.080 |
2 |
165310586 |
splice donor variant |
AGGATAAAAG/-
|
delins
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs181327458
|
0.925 |
0.080 |
2 |
165310448 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs387906686
|
0.742 |
0.320 |
2 |
165310413 |
missense variant |
C/A;T
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587780450
|
1.000 |
0.080 |
2 |
165354646 |
frameshift variant |
A/-
|
del
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs746163041
|
0.925 |
0.080 |
2 |
165344869 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs796053122
|
1.000 |
0.080 |
2 |
165344714 |
stop gained |
A/G;T
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs796053162
|
0.882 |
0.080 |
2 |
165389123 |
missense variant |
G/A
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|