rs797045140
|
0.827 |
0.200 |
X |
53238308 |
splice region variant |
TG/-
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1556863492
|
1.000 |
0.080 |
X |
53251018 |
frameshift variant |
TAGAGGGG/-
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267607187
|
1.000 |
0.080 |
X |
53248778 |
missense variant |
T/G
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2010 |
2015 |
rs1556880284
|
1.000 |
0.080 |
X |
53320973 |
frameshift variant |
GCTGGCCCTCCAGCTCCTCGATGCGCCGCCGCTGGGTTTCCAGCAGCTGCTGCTGGCTCTCGATGATGTTGTTCAGCTCCAGCAGGTACTCCACGGC/AT
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556863435
|
1.000 |
0.080 |
X |
53250946 |
frameshift variant |
GCCGG/-
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs374220843
|
1.000 |
0.080 |
X |
53236386 |
stop gained |
G/A;T
|
snv
|
5.2E-05
|
1.9E-05
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1556859744
|
1.000 |
0.080 |
X |
53236495 |
missense variant |
G/A;C
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267607186
|
1.000 |
0.080 |
X |
53247131 |
missense variant |
G/A
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2010 |
2015 |
rs267607188
|
1.000 |
0.080 |
X |
53254856 |
missense variant |
G/A
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2010 |
2015 |
rs875989799
|
1.000 |
0.080 |
X |
53248814 |
missense variant |
G/A
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2010 |
2015 |
rs587777261
|
1.000 |
0.080 |
X |
53248133 |
stop gained |
G/A
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1057520858
|
1.000 |
0.080 |
X |
53243445 |
stop gained |
G/A
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569291699
|
1.000 |
0.080 |
X |
53234869 |
stop gained |
G/A
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569302816
|
1.000 |
0.080 |
X |
53250997 |
stop gained |
G/A
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569290954
|
1.000 |
0.080 |
X |
53234267 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569291627
|
1.000 |
0.080 |
X |
53234811 |
frameshift variant |
G/-
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2010 |
2017 |
rs886041481
|
1.000 |
0.080 |
X |
53255995 |
frameshift variant |
G/-
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1556863340
|
1.000 |
0.080 |
X |
53250900 |
frameshift variant |
G/-
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs782460038
|
1.000 |
0.080 |
X |
53255945 |
frameshift variant |
G/-
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556861311
|
1.000 |
0.080 |
X |
53243331 |
splice donor variant |
C/T
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2010 |
2016 |
rs267607189
|
1.000 |
0.080 |
X |
53250303 |
missense variant |
C/T
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2010 |
2015 |
rs1569306667
|
1.000 |
0.080 |
X |
53256062 |
splice acceptor variant |
C/T
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs782660318
|
1.000 |
0.080 |
X |
53255951 |
frameshift variant |
C/-
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060499660
|
1.000 |
0.080 |
X |
53248219 |
missense variant |
A/G
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569300277
|
1.000 |
0.080 |
X |
53248112 |
splice donor variant |
A/G
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|