rs1057519398
|
1.000 |
0.080 |
X |
53409218 |
frameshift variant |
-/G
|
ins
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057519499
|
1.000 |
0.080 |
X |
53382296 |
missense variant |
T/C
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556885815
|
1.000 |
0.080 |
X |
53381057 |
missense variant |
A/C
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556886124
|
1.000 |
0.080 |
X |
53383124 |
stop gained |
G/A
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556891104
|
1.000 |
0.080 |
X |
53415155 |
missense variant |
T/C
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556892359
|
1.000 |
0.080 |
X |
53422506 |
missense variant |
C/T
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569351341
|
1.000 |
0.080 |
X |
53380142 |
inframe deletion |
GAGGTCGAAGGT/-
|
delins
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569351534
|
1.000 |
0.080 |
X |
53381064 |
missense variant |
A/T
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569351907
|
1.000 |
0.080 |
X |
53382640 |
stop gained |
G/A
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569356968
|
0.882 |
0.200 |
X |
53405268 |
stop gained |
C/A
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587784404
|
1.000 |
0.080 |
X |
53409491 |
missense variant |
G/T
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587784405
|
1.000 |
0.080 |
X |
53409150 |
missense variant |
T/C
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587784406
|
1.000 |
0.080 |
X |
53405650 |
missense variant |
A/G
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587784407
|
1.000 |
0.080 |
X |
53405527 |
missense variant |
C/T
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587784410
|
1.000 |
0.080 |
X |
53403659 |
missense variant |
A/T
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587784415
|
1.000 |
0.080 |
X |
53383157 |
missense variant |
T/A
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587784419
|
1.000 |
0.080 |
X |
53380681 |
missense variant |
A/G
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587784421
|
1.000 |
0.080 |
X |
53413300 |
stop gained |
G/A
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587784422
|
1.000 |
0.080 |
X |
53413261 |
missense variant |
G/A
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587784423
|
1.000 |
0.080 |
X |
53413140 |
splice acceptor variant |
T/C
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs727503774
|
0.925 |
0.240 |
X |
53383255 |
splice acceptor variant |
T/C
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797045991
|
1.000 |
0.080 |
X |
53411871 |
inframe deletion |
CTT/-
|
delins
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797045992
|
1.000 |
0.080 |
X |
53405255 |
inframe deletion |
TCT/-
|
del
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs886044819
|
1.000 |
0.080 |
X |
53399704 |
missense variant |
C/T
|
snv
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |