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 | X | 49075874 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 10 | 2010 | 2017 | |||||||||
|
1.000 | X | 49075874 | stop gained | G/A | snv |
|
0.700 | 1.000 | 10 | 2010 | 2017 | ||||||||||
|
X | 49078050 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 10 | 2010 | 2017 | ||||||||||
|
0.827 | 0.200 | X | 49075573 | stop gained | G/A;T | snv | 5.5E-06 |
|
0.700 | 1.000 | 10 | 2010 | 2017 | ||||||||
|
0.827 | 0.200 | X | 49075573 | stop gained | G/A;T | snv | 5.5E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 10 | 2010 | 2017 | |||||||
|
0.827 | 0.200 | X | 49075573 | stop gained | G/A;T | snv | 5.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 10 | 2010 | 2017 | |||||||
|
0.925 | 0.080 | X | 49078077 | stop gained | G/A | snv |
|
0.700 | 1.000 | 10 | 2010 | 2017 | |||||||||
|
0.925 | 0.080 | X | 49078077 | stop gained | G/A | snv |
|
0.700 | 1.000 | 10 | 2010 | 2017 | |||||||||
|
1.000 | 0.080 | X | 49075363 | splice donor variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 5 | 2012 | 2017 | ||||||||
|
0.827 | 0.200 | X | 49075573 | stop gained | G/A;T | snv | 5.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 5 | 2012 | 2019 | |||||||
|
1.000 | 0.080 | X | 49077749 | splice acceptor variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
1.000 | 0.080 | X | 49075865 | splice donor variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
1.000 | 0.080 | X | 49077715 | inframe deletion | CCA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||||||
|
1.000 | 0.080 | X | 49077715 | inframe deletion | CCA/- | delins |
|
0.700 | 1.000 | 3 | 2012 | 2013 | |||||||||
|
1.000 | 0.080 | X | 49077715 | inframe deletion | CCA/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||||||
|
1.000 | 0.080 | X | 49077715 | inframe deletion | CCA/- | delins |
|
0.700 | 1.000 | 3 | 2012 | 2013 | |||||||||
|
1.000 | 0.080 | X | 49076450 | inframe deletion | TCAAAC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | X | 49075239 | stop gained | G/A;C | snv | 2.7E-05 | 1.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.851 | 0.280 | X | 49076469 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.280 | X | 49076469 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | X | 49078077 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | X | 49078038 | splice donor variant | AC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | X | 49078038 | splice donor variant | AC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 49074913 | splice acceptor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 49075157 | frameshift variant | -/GG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 |