rs122454123
|
1.000 |
0.080 |
X |
53409120 |
missense variant |
C/T
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
9 |
2006 |
2019 |
rs122454122
|
1.000 |
0.080 |
X |
53409129 |
missense variant |
T/G
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2006 |
2013 |
rs1556890815
|
1.000 |
0.080 |
X |
53413260 |
missense variant |
C/T
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2006 |
2013 |
rs387906702
|
0.807 |
0.200 |
X |
53403635 |
missense variant |
A/G
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2006 |
2013 |
rs587784403
|
1.000 |
0.080 |
X |
53411822 |
missense variant |
C/T
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2006 |
2013 |
rs587784408
|
1.000 |
0.080 |
X |
53405130 |
missense variant |
C/T
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2006 |
2013 |
rs587784409
|
1.000 |
0.080 |
X |
53405077 |
missense variant |
G/A
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2006 |
2013 |
rs587784416
|
1.000 |
0.080 |
X |
53382645 |
missense variant |
C/T
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2006 |
2013 |
rs587784418
|
1.000 |
0.080 |
X |
53382537 |
missense variant |
T/C
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2006 |
2013 |
rs587784420
|
1.000 |
0.080 |
X |
53413426 |
missense variant |
C/T
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2006 |
2013 |
rs797045993
|
1.000 |
0.080 |
X |
53403617 |
missense variant |
C/T
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2006 |
2013 |
rs782176647
|
1.000 |
0.080 |
X |
53405076 |
missense variant |
C/A;T
|
snv
|
|
1.9E-05
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2006 |
2013 |
rs587784412
|
1.000 |
0.080 |
X |
53403618 |
missense variant |
G/A
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2007 |
2014 |
rs727503773
|
0.882 |
0.160 |
X |
53412950 |
inframe deletion |
TCT/-
|
delins
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2009 |
2019 |
rs797045069
|
1.000 |
0.080 |
X |
53399604 |
frameshift variant |
T/-
|
del
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2016 |
2019 |
rs863225458
|
1.000 |
0.080 |
X |
53396233 |
frameshift variant |
GACT/-
|
delins
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2015 |
2019 |
rs1556886034
|
0.925 |
0.080 |
X |
53382594 |
missense variant |
C/T
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1556886127
|
1.000 |
0.080 |
X |
53383145 |
frameshift variant |
TGGCCTTCATGTTGGGGGCGGCAATAC/CTGCA
|
delins
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs1569356550
|
1.000 |
0.080 |
X |
53403566 |
missense variant |
C/T
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1569356555
|
1.000 |
0.080 |
X |
53403591 |
frameshift variant |
-/T
|
delins
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1569358628
|
1.000 |
0.080 |
X |
53411903 |
splice acceptor variant |
T/C
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1569359048
|
1.000 |
0.080 |
X |
53413099 |
frameshift variant |
C/-
|
delins
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1569359535
|
1.000 |
0.080 |
X |
53415151 |
missense variant |
T/A
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1569359540
|
1.000 |
0.080 |
X |
53415169 |
missense variant |
C/A
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs863225459
|
1.000 |
0.080 |
X |
53380685 |
frameshift variant |
-/GGCC
|
delins
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |