rs1057521256
|
|
1.000 |
0.200 |
X |
100406783 |
stop gained
|
G/A;C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1060502175
|
|
1.000 |
0.200 |
X |
100402799 |
frameshift variant
|
T/-
|
delins
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1060502176
|
|
1.000 |
0.200 |
X |
100407891 |
missense variant
|
G/A;C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs132630323
|
|
1.000 |
0.200 |
X |
100407276 |
missense variant
|
A/T
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.800 |
|
0 |
|
|
rs132630324
|
|
1.000 |
0.200 |
X |
100408345 |
stop gained
|
G/A
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs132630325
|
|
1.000 |
0.200 |
X |
100406586 |
stop gained
|
G/C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs132630326
|
|
1.000 |
0.200 |
X |
100408456 |
stop gained
|
C/A;T
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1555985105
|
|
1.000 |
0.200 |
X |
100407043 |
stop gained
|
G/A
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1555985163
|
|
1.000 |
0.200 |
X |
100407150 |
frameshift variant
|
CCAGGTC/-
|
delins
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1555985416
|
|
1.000 |
0.200 |
X |
100407718 |
frameshift variant
|
-/GGTCG
|
delins
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1555985543
|
|
1.000 |
0.200 |
X |
100407979 |
frameshift variant
|
G/-
|
delins
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1555985639
|
|
1.000 |
0.200 |
X |
100408108 |
stop gained
|
GC/AT
|
mnv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1555985780
|
|
1.000 |
0.200 |
X |
100408330 |
missense variant
|
C/G
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1555985820
|
|
1.000 |
0.200 |
X |
100408459 |
stop gained
|
GC/AA
|
mnv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1569314152
|
|
1.000 |
0.200 |
X |
100406567 |
frameshift variant
|
-/A
|
delins
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1569314475
|
|
1.000 |
0.200 |
X |
100406922 |
frameshift variant
|
T/-
|
delins
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1569314809
|
|
1.000 |
0.200 |
X |
100407256 |
missense variant
|
C/A
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1569315042
|
|
1.000 |
0.200 |
X |
100407476 |
frameshift variant
|
GA/-
|
delins
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1569315156
|
|
1.000 |
0.200 |
X |
100407604 |
frameshift variant
|
C/-
|
delins
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1569315169
|
|
1.000 |
0.200 |
X |
100407627 |
frameshift variant
|
T/-
|
delins
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1569315842
|
|
1.000 |
0.080 |
X |
100408107 |
frameshift variant
|
-/G
|
delins
|
|
|
Tonic - clonic seizures
|
0.700 |
|
0 |
|
|
rs1569315876
|
|
1.000 |
0.200 |
X |
100408136 |
stop gained
|
G/C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs758946412
|
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant
|
G/-;GG
|
delins
|
|
|
Global developmental delay
|
0.700 |
|
0 |
|
|
rs758946412
|
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant
|
G/-;GG
|
delins
|
|
|
Tremor of hands
|
0.700 |
|
0 |
|
|
rs758946412
|
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant
|
G/-;GG
|
delins
|
|
|
Frontal cortical atrophy
|
0.700 |
|
0 |
|
|