rs28935479
|
1.000 |
0.080 |
X |
25013139 |
missense variant |
C/T
|
snv
|
6.5E-06
|
|
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2002 |
2002 |
rs28936077
|
1.000 |
0.080 |
X |
25015640 |
missense variant |
A/G
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs387906492
|
0.882 |
0.160 |
X |
25013660 |
inframe insertion |
CGCCGCCGCCGCCGCCGC/-;CGC;CGCCGC;CGCCGCCGC;CGCCGCCGCCGC;CGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC
|
delins
|
|
|
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2002 |
2015 |
rs398124510
|
0.882 |
0.160 |
X |
25013531 |
inframe insertion |
GCGGCCGCGGCTGCCGCGGCGGCC/-;GCGGCCGCGGCTGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCC
|
delins
|
|
6.8E-04
|
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2002 |
2015 |
rs387906493
|
0.882 |
0.120 |
X |
25013544 |
inframe insertion |
GGCCGCGGCTGCCGCGGCGGCCCC/-;GGCCGCGGCTGCCGCGGCGGCCCCGGCCGCGGCTGCCGCGGCGGCCCC
|
delins
|
|
|
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2006 |
2015 |
rs1556056154
|
0.925 |
0.080 |
X |
25013536 |
inframe insertion |
-/GCCGCGGCCGCGGCTGCCGCGGCGGCCCCTGCG
|
delins
|
|
|
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569394026
|
1.000 |
0.080 |
X |
25007176 |
frameshift variant |
AGCGGCGCCC/-
|
delins
|
|
|
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|