rs1411999109
|
1.000 |
0.080 |
8 |
24955720 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs191346286
|
1.000 |
0.080 |
8 |
24953704 |
stop gained |
G/A;T
|
snv
|
4.4E-05
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs28928910
|
0.827 |
0.200 |
8 |
24956452 |
missense variant |
G/A;T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.810 |
1.000 |
1 |
2011 |
2011 |
rs57105105
|
0.925 |
0.080 |
8 |
24953776 |
missense variant |
C/T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs58640772
|
1.000 |
0.080 |
8 |
24956455 |
frameshift variant |
-/TCCACGTAGCGCC
|
delins
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587777880
|
1.000 |
0.080 |
8 |
24955722 |
missense variant |
T/C
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2000 |
2015 |
rs587777881
|
1.000 |
0.080 |
8 |
24955509 |
missense variant |
A/G
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2000 |
2015 |
rs587777882
|
1.000 |
0.080 |
8 |
24953646 |
missense variant |
G/A;C
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2000 |
2015 |
rs58982919
|
0.790 |
0.080 |
8 |
24956223 |
missense variant |
T/C
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2002 |
2016 |
rs59443585
|
0.925 |
0.080 |
8 |
24955521 |
missense variant |
T/G
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2000 |
2015 |
rs60261494
|
0.882 |
0.080 |
8 |
24956493 |
missense variant |
GG/CT
|
mnv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs62636502
|
1.000 |
0.080 |
8 |
24955713 |
missense variant |
A/C;G
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2000 |
2015 |
rs62636503
|
0.882 |
0.080 |
8 |
24953779 |
missense variant |
C/T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.810 |
1.000 |
15 |
2000 |
2016 |
rs62636505
|
0.925 |
0.080 |
8 |
24956235 |
missense variant |
A/G
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs757417962
|
1.000 |
0.080 |
8 |
24954233 |
stop gained |
G/A;C
|
snv
|
2.0E-05
|
7.0E-06
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs876661155
|
1.000 |
0.080 |
8 |
24956029 |
stop gained |
C/A;G
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|