rs727504224
|
1.000 |
0.280 |
2 |
144399311 |
stop gained |
C/A;T
|
snv
|
2.4E-05
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs786204807
|
1.000 |
0.280 |
2 |
144399910 |
stop gained |
A/C
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs786204808
|
1.000 |
0.280 |
2 |
144399438 |
stop gained |
G/T
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs786204815
|
0.882 |
0.360 |
2 |
144400160 |
stop gained |
G/A
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs797046117
|
1.000 |
0.280 |
2 |
144400081 |
stop gained |
A/T
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs797046120
|
1.000 |
0.280 |
2 |
144396585 |
stop gained |
A/T
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs797046121
|
1.000 |
0.280 |
2 |
144389959 |
stop gained |
G/T
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs797046122
|
1.000 |
0.280 |
2 |
144404049 |
stop gained |
G/T
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs863224942
|
1.000 |
0.280 |
2 |
144396547 |
missense variant |
C/A
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553961487
|
1.000 |
0.280 |
2 |
144398381 |
frameshift variant |
C/-
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553961510
|
1.000 |
0.280 |
2 |
144398498 |
frameshift variant |
-/T
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553961585
|
1.000 |
0.280 |
2 |
144398972 |
frameshift variant |
-/GGAG
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553961598
|
1.000 |
0.280 |
2 |
144399034 |
stop gained |
-/TGGGAGCTAACGGCTTGGAGCTTCTTTCCAGGGATGGGGACCTGGAATTTGAGTACTGGTAGACTTTTCGTTGTTCAAACCATTCCTTCACAAATTCCTGAGGAAGGCCCACAGC
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553961747
|
1.000 |
0.280 |
2 |
144400019 |
frameshift variant |
T/-
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553964145
|
1.000 |
0.280 |
2 |
144429852 |
frameshift variant |
-/C
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553964147
|
1.000 |
0.280 |
2 |
144429865 |
frameshift variant |
CA/-
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553971826
|
1.000 |
0.280 |
2 |
144517279 |
frameshift variant |
-/T
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1560605892
|
1.000 |
0.280 |
2 |
144398430 |
frameshift variant |
C/-
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1560606294
|
1.000 |
0.280 |
2 |
144398850 |
frameshift variant |
C/-
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1560606974
|
1.000 |
0.280 |
2 |
144399616 |
frameshift variant |
-/T
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1560609810
|
1.000 |
0.280 |
2 |
144404995 |
frameshift variant |
-/A
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs398124280
|
1.000 |
0.280 |
2 |
144389732 |
stop gained |
AGTACC/CATTA
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587776603
|
1.000 |
0.280 |
2 |
144400011 |
frameshift variant |
GTTT/-
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587776604
|
1.000 |
0.280 |
2 |
144399760 |
frameshift variant |
-/T
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587776605
|
1.000 |
0.280 |
2 |
144403962 |
frameshift variant |
TG/-;TGTG
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|