rs137852693
|
0.925 |
0.240 |
14 |
36517871 |
stop gained |
C/A;G
|
snv
|
4.1E-06
|
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1555349218
|
1.000 |
0.240 |
14 |
36517849 |
missense variant |
T/G
|
snv
|
|
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1566615444
|
1.000 |
0.240 |
14 |
36517839 |
stop gained |
G/C;T
|
snv
|
|
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587776707
|
1.000 |
0.240 |
14 |
36517810 |
frameshift variant |
-/CC
|
delins
|
|
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587776708
|
0.925 |
0.240 |
14 |
36518022 |
splice acceptor variant |
T/A;C
|
snv
|
|
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587776709
|
1.000 |
0.240 |
14 |
36519104 |
frameshift variant |
C/-;CC
|
delins
|
|
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs863225300
|
0.925 |
0.280 |
14 |
36517960 |
stop gained |
G/T
|
snv
|
|
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs137852692
|
1.000 |
0.240 |
14 |
36517781 |
missense variant |
C/A
|
snv
|
|
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
5 |
2002 |
2014 |