rs1568473233
|
0.925 |
0.120 |
19 |
13262790 |
stop gained |
G/A
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
1.000 |
2 |
2012 |
2012 |
rs1568440440
|
0.925 |
0.120 |
19 |
13228767 |
stop gained |
GT/-
|
delins
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs121909324
|
0.851 |
0.160 |
19 |
13255217 |
stop gained |
G/A
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
|
0 |
|
|
rs1555743942
|
0.925 |
0.120 |
19 |
13257514 |
stop gained |
G/A
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
|
0 |
|
|
rs1555756130
|
0.925 |
0.120 |
19 |
13298878 |
stop gained |
C/A
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
|
0 |
|
|
rs1555756737
|
0.925 |
0.120 |
19 |
13300638 |
stop gained |
C/A
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
|
0 |
|
|
rs1555759066
|
0.925 |
0.120 |
19 |
13308496 |
stop gained |
C/T
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
|
0 |
|
|
rs1568470104
|
0.925 |
0.120 |
19 |
13259661 |
stop gained |
G/A
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
|
0 |
|
|
rs1568528144
|
0.925 |
0.120 |
19 |
13317198 |
stop gained |
C/T
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
|
0 |
|
|
rs779221807
|
0.925 |
0.120 |
19 |
13212204 |
stop gained |
G/A
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
|
0 |
|
|
rs121908212
|
0.732 |
0.160 |
19 |
13303877 |
missense variant |
G/A
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
1.000 |
8 |
1996 |
2017 |
rs886037945
|
0.827 |
0.160 |
19 |
13303584 |
missense variant |
C/T
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.800 |
1.000 |
3 |
2013 |
2016 |
rs121908247
|
0.851 |
0.160 |
19 |
13235693 |
missense variant |
C/T
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
1.000 |
2 |
2006 |
2017 |
rs886037944
|
1.000 |
|
19 |
13455205 |
missense variant |
C/G
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.800 |
1.000 |
2 |
2016 |
2016 |
rs886037946
|
1.000 |
|
19 |
13257421 |
missense variant |
C/A
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.800 |
1.000 |
2 |
2016 |
2016 |
rs1555737113
|
0.925 |
0.120 |
19 |
13231850 |
missense variant |
C/T
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057520918
|
0.790 |
0.160 |
19 |
13262780 |
missense variant |
C/T
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
|
0 |
|
|
rs1064794261
|
1.000 |
|
19 |
13231717 |
missense variant |
G/A
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
|
0 |
|
|
rs1555757432
|
1.000 |
|
19 |
13303574 |
missense variant |
T/G
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
|
0 |
|
|
rs794727411
|
0.851 |
0.160 |
19 |
13261526 |
missense variant |
C/G;T
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
|
0 |
|
|
rs1568457080
|
0.925 |
0.120 |
19 |
13245181 |
splice donor variant |
C/A
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
1.000 |
5 |
1999 |
2016 |
rs1272886269
|
0.925 |
0.120 |
19 |
13335805 |
splice donor variant |
C/T
|
snv
|
4.2E-06
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
|
0 |
|
|
rs1555755909
|
0.925 |
0.120 |
19 |
13298704 |
frameshift variant |
GCTCCGCCTTGTCCTCCGGACCCTCC/-
|
delins
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
|
0 |
|
|
rs1555756461
|
0.925 |
0.120 |
19 |
13299314 |
frameshift variant |
CAC/GT
|
delins
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
|
0 |
|
|
rs1555757523
|
0.925 |
0.120 |
19 |
13303832 |
frameshift variant |
T/-
|
del
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
|
0.700 |
|
0 |
|
|