rs1060502303
|
1.000 |
0.160 |
X |
120446381 |
frameshift variant |
C/-
|
delins
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060502306
|
1.000 |
0.160 |
X |
120441861 |
stop gained |
C/T
|
snv
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1183994410
|
1.000 |
0.160 |
X |
120469156 |
frameshift variant |
C/-
|
del
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1251075016
|
1.000 |
0.160 |
X |
120447840 |
splice donor variant |
C/T
|
snv
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1327363415
|
1.000 |
0.160 |
X |
120442643 |
frameshift variant |
-/A
|
delins
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1352584474
|
1.000 |
0.160 |
X |
120446300 |
splice region variant |
C/A;G
|
snv
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs137852527
|
1.000 |
0.160 |
X |
120449086 |
stop gained |
A/T
|
snv
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1436181133
|
1.000 |
0.160 |
X |
120469128 |
frameshift variant |
TGAGCCC/-
|
delins
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1569369194
|
1.000 |
0.160 |
X |
120446326 |
stop gained |
A/C
|
snv
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1569371330
|
1.000 |
0.160 |
X |
120455563 |
frameshift variant |
CA/-
|
delins
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs193922649
|
0.925 |
0.160 |
X |
120449063 |
frameshift variant |
T/-
|
del
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs727503119
|
1.000 |
0.160 |
X |
120446304 |
splice donor variant |
C/A;T
|
snv
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs727504597
|
1.000 |
0.160 |
X |
120441803 |
frameshift variant |
A/-
|
del
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs727504600
|
1.000 |
0.160 |
X |
120456713 |
frameshift variant |
A/-
|
delins
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs727504648
|
1.000 |
0.160 |
X |
120446317 |
frameshift variant |
AA/-
|
delins
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs730880344
|
0.925 |
0.160 |
X |
120456704 |
frameshift variant |
-/TA
|
delins
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs730880483
|
1.000 |
0.160 |
X |
120446374 |
stop gained |
G/T
|
snv
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs730880492
|
1.000 |
0.160 |
X |
120447993 |
frameshift variant |
-/TGTTG
|
delins
|
5.5E-06;
5.5E-06
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs876657648
|
1.000 |
0.160 |
X |
120442615 |
stop gained |
A/C
|
snv
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs104894858
|
0.925 |
0.160 |
X |
120442599 |
missense variant |
C/T
|
snv
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
5 |
2005 |
2009 |
rs104894859
|
0.925 |
0.160 |
X |
120441862 |
missense variant |
A/G
|
snv
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
2005 |
2014 |
rs397516751
|
0.925 |
0.160 |
X |
120446299 |
splice donor variant |
TCAC/-
|
delins
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2005 |
2015 |
rs727503118
|
0.925 |
0.160 |
X |
120442650 |
stop gained |
G/A;T
|
snv
|
9.8E-05
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2012 |
rs876657696
|
1.000 |
0.160 |
X |
120455460 |
stop gained |
C/T
|
snv
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2006 |
2012 |
rs104894857
|
1.000 |
0.160 |
X |
120449006 |
stop gained |
G/A
|
snv
|
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
2 |
2004 |
2016 |