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 |
|
|
rs730880492
|
1.000 |
0.160 |
X |
120447993 |
frameshift variant |
-/TGTTG
|
delins
|
5.5E-06;
5.5E-06
|
|
Cardiomyopathies
|
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 |
|
|
rs1060502302
|
1.000 |
0.160 |
X |
120448978 |
frameshift variant |
CTC/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 |
1.000 |
1 |
2011 |
2011 |
rs1060502305
|
1.000 |
0.160 |
X |
120441810 |
stop gained |
G/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 |
1.000 |
1 |
2011 |
2011 |
rs1271031981
|
1.000 |
0.160 |
X |
120456696 |
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 |
1 |
2005 |
2005 |
rs1556092459
|
1.000 |
0.160 |
X |
120441849 |
frameshift variant |
-/G
|
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 |
1 |
2016 |
2016 |
rs1556101523
|
1.000 |
0.160 |
X |
120447886 |
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 |
1.000 |
1 |
2011 |
2011 |
rs1569369940
|
1.000 |
0.160 |
X |
120449056 |
stop gained |
-/AAACTATTGCATCTAAAAAGGTCATTCAATGGAATTCTGATGGCCAAAAGTTCAT
|
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 |
1 |
2005 |
2005 |
rs1569371591
|
1.000 |
0.160 |
X |
120456697 |
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 |
1 |
2005 |
2005 |
rs397516743
|
1.000 |
0.160 |
X |
120456771 |
splice acceptor variant |
T/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 |
1.000 |
1 |
2005 |
2005 |
rs727504262
|
1.000 |
0.160 |
X |
120441895 |
splice acceptor 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 |
1.000 |
1 |
2003 |
2003 |
rs104894859
|
0.925 |
0.160 |
X |
120441862 |
missense variant |
A/G
|
snv
|
|
|
Protein Deficiency
|
Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs1160535157
|
|
|
X |
120449056 |
stop gained |
G/C
|
snv
|
|
|
Retinal Diseases
|
Eye Diseases
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs727504953
|
0.925 |
0.160 |
X |
120455477 |
missense variant |
C/G;T
|
snv
|
5.5E-06;
4.4E-05
|
|
Glycogen Storage Disease Type IIb
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs727504953
|
0.925 |
0.160 |
X |
120455477 |
missense variant |
C/G;T
|
snv
|
5.5E-06;
4.4E-05
|
|
Cardiomyopathy, Hypertrophic, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
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 |
rs397516740
|
1.000 |
0.160 |
X |
120455461 |
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 |
2 |
2006 |
2008 |
rs727503120
|
0.925 |
0.160 |
X |
120456650 |
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 |
1.000 |
2 |
2011 |
2017 |
rs727504742
|
1.000 |
0.160 |
X |
120441729 |
splice donor variant |
C/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 |
1.000 |
2 |
2008 |
2008 |
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 |