rs762976316
|
0.882 |
0.400 |
10 |
49458898 |
stop gained |
G/A
|
snv
|
1.6E-05
|
1.4E-05
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs766980240
|
0.882 |
0.400 |
10 |
49459235 |
splice acceptor variant |
C/G
|
snv
|
2.0E-05
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1554873950
|
0.882 |
0.400 |
10 |
49460371 |
splice donor variant |
A/T
|
snv
|
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs786205175
|
1.000 |
0.160 |
10 |
49460428 |
frameshift variant |
T/-
|
delins
|
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554873973
|
0.882 |
0.400 |
10 |
49460453 |
splice acceptor variant |
T/C
|
snv
|
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554874073
|
0.882 |
0.400 |
10 |
49461378 |
frameshift variant |
C/-
|
delins
|
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs765825423
|
0.882 |
0.400 |
10 |
49461382 |
frameshift variant |
CT/-
|
del
|
2.0E-05
|
1.4E-05
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1564725764
|
1.000 |
0.160 |
10 |
49461393 |
stop gained |
C/T
|
snv
|
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs786205174
|
1.000 |
0.160 |
10 |
49461431 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1386369933
|
0.882 |
0.400 |
10 |
49461463 |
frameshift variant |
-/G
|
delins
|
|
7.0E-06
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs185142838
|
0.851 |
0.400 |
10 |
49461473 |
stop gained |
G/A
|
snv
|
1.4E-04
|
9.1E-05
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2010 |
2016 |
rs1554875114
|
0.882 |
0.400 |
10 |
49470181 |
splice donor variant |
C/G
|
snv
|
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554875154
|
0.882 |
0.400 |
10 |
49470332 |
frameshift variant |
-/A
|
delins
|
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554875155
|
0.882 |
0.400 |
10 |
49470346 |
frameshift variant |
T/-
|
delins
|
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs786205173
|
1.000 |
0.160 |
10 |
49470347 |
frameshift variant |
-/A
|
ins
|
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs786205172
|
0.882 |
0.400 |
10 |
49470352 |
frameshift variant |
-/AAGGTGGACCTTAAGCAGCCAGCCCT
|
delins
|
|
7.0E-06
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1998 |
1998 |
rs1287286877
|
0.882 |
0.400 |
10 |
49470367 |
frameshift variant |
-/TC
|
delins
|
4.0E-06
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs786205171
|
0.882 |
0.400 |
10 |
49470424 |
frameshift variant |
T/-
|
del
|
|
1.4E-05
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs786205170
|
0.882 |
0.400 |
10 |
49470547 |
frameshift variant |
-/T
|
delins
|
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554875287
|
0.882 |
0.400 |
10 |
49470890 |
splice acceptor variant |
C/T
|
snv
|
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs772801089
|
1.000 |
0.160 |
10 |
49472377 |
stop gained |
G/A
|
snv
|
1.6E-05
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs906755254
|
0.882 |
0.400 |
10 |
49472461 |
stop gained |
G/A
|
snv
|
4.0E-06
|
4.2E-05
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1998 |
1998 |
rs373227647
|
0.790 |
0.440 |
10 |
49472472 |
splice acceptor variant |
T/C
|
snv
|
8.0E-06
|
7.0E-06
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554875522
|
0.882 |
0.400 |
10 |
49472908 |
splice donor variant |
C/T
|
snv
|
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs4253196
|
1.000 |
0.160 |
10 |
49473613 |
intron variant |
T/C;G
|
snv
|
5.2E-05
|
|
Cockayne Syndrome, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |