rs121912628
|
1.000 |
0.200 |
5 |
132618182 |
stop gained |
C/G;T
|
snv
|
1.6E-05
|
2.8E-05
|
Nijmegen Breakage Syndrome-Like Disorder
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2009 |
2017 |
rs760146707
|
1.000 |
0.200 |
5 |
132579997 |
frameshift variant |
T/-
|
del
|
|
4.1E-04
|
Nijmegen Breakage Syndrome-Like Disorder
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2003 |
2015 |
rs149201802
|
1.000 |
0.200 |
5 |
132594950 |
stop gained |
C/G;T
|
snv
|
8.0E-05;
5.6E-05
|
|
Nijmegen Breakage Syndrome-Like Disorder
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2008 |
2015 |
rs1060501941
|
1.000 |
0.200 |
5 |
132609388 |
frameshift variant |
CACA/-
|
delins
|
|
|
Nijmegen Breakage Syndrome-Like Disorder
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1247689593
|
1.000 |
0.200 |
5 |
132588728 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
7.0E-06
|
Nijmegen Breakage Syndrome-Like Disorder
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs587782895
|
1.000 |
0.200 |
5 |
132604020 |
frameshift variant |
AA/-
|
del
|
|
5.6E-05
|
Nijmegen Breakage Syndrome-Like Disorder
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs121912629
|
1.000 |
0.200 |
5 |
132642364 |
stop lost |
A/T
|
snv
|
4.0E-06
|
7.0E-06
|
Nijmegen Breakage Syndrome-Like Disorder
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554096791
|
1.000 |
0.200 |
5 |
132559336 |
frameshift variant |
C/-
|
delins
|
|
|
Nijmegen Breakage Syndrome-Like Disorder
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554098250
|
1.000 |
0.200 |
5 |
132588806 |
frameshift variant |
CAGA/-
|
delins
|
|
|
Nijmegen Breakage Syndrome-Like Disorder
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1561635887
|
1.000 |
0.200 |
5 |
132579402 |
frameshift variant |
-/TA
|
delins
|
|
|
Nijmegen Breakage Syndrome-Like Disorder
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397507178
|
1.000 |
0.200 |
5 |
132595760 |
frameshift variant |
A/-;AA
|
delins
|
|
|
Nijmegen Breakage Syndrome-Like Disorder
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587782090
|
1.000 |
0.200 |
5 |
132587942 |
stop gained |
G/T
|
snv
|
|
|
Nijmegen Breakage Syndrome-Like Disorder
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs772468452
|
1.000 |
0.200 |
5 |
132595719 |
stop gained |
C/T
|
snv
|
8.0E-06
|
2.1E-05
|
Nijmegen Breakage Syndrome-Like Disorder
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs876659005
|
1.000 |
0.200 |
5 |
132579868 |
frameshift variant |
-/A
|
delins
|
|
|
Nijmegen Breakage Syndrome-Like Disorder
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878854799
|
1.000 |
0.200 |
5 |
132638094 |
frameshift variant |
AGAAATA/-
|
del
|
|
|
Nijmegen Breakage Syndrome-Like Disorder
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|