Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 17 | 31095323 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 31227294 | splice region variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 31181420 | splice acceptor variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 31229024 | splice acceptor variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 31338788 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 31338788 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 31227215 | splice region variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 31227215 | splice region variant | T/G | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 31227215 | splice region variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 31227215 | splice region variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 31227215 | splice region variant | T/G | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 31155990 | frameshift variant | T/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.240 | 17 | 31221932 | missense variant | A/G | snv |
|
Neoplasms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.240 | 17 | 31221932 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.240 | 17 | 31221932 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 31334837 | splice acceptor variant | G/A | snv |
|
Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 31334837 | splice acceptor variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 31334837 | splice acceptor variant | G/A | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins |
|
Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins |
|
Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 |