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 | X | 153693979 | inframe deletion | TTC/- | delins | 9.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 7 | 2002 | 2013 | |||||||
|
X | 153693368 | splice donor variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 11 | 2000 | 2017 | ||||||||||
|
1.000 | 0.120 | X | 153691304 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 9 | 2002 | 2015 | ||||||||
|
1.000 | 0.120 | X | 153693586 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 9 | 2002 | 2015 | ||||||||
|
1.000 | 0.120 | X | 153693586 | missense variant | G/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.120 | X | 153694776 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 9 | 2002 | 2015 | ||||||||
|
1.000 | 0.120 | X | 153688833 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 9 | 2002 | 2015 | ||||||||
|
1.000 | 0.120 | X | 153694737 | missense variant | G/A | snv | 2.7E-05 | 3.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 9 | 2002 | 2015 | ||||||
|
1.000 | 0.080 | X | 153695191 | missense variant | G/A | snv | 1.4E-05 | 3.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||
|
1.000 | 0.120 | X | 153694406 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | X | 153690428 | inframe deletion | CTT/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 11 | 2000 | 2017 | ||||||||
|
0.925 | 0.120 | X | 153690428 | inframe deletion | CTT/- | delins |
|
0.700 | 1.000 | 11 | 2000 | 2017 | |||||||||
|
0.925 | 0.120 | X | 153690428 | inframe deletion | CTT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | X | 153693322 | splice acceptor variant | CA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | X | 153694577 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 11 | 2000 | 2017 | ||||||||
|
1.000 | 0.120 | X | 153694783 | missense variant | C/T | snv | 5.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 11 | 2002 | 2015 | |||||||
|
1.000 | 0.120 | X | 153693934 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2006 | 2011 | ||||||||
|
1.000 | 0.120 | X | 153694577 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | X | 153693971 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||||
|
1.000 | X | 153693971 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | X | 153693971 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | X | 153693971 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | X | 153694753 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | X | 153694424 | missense variant | C/G;T | snv | 1.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 9 | 2002 | 2015 | |||||||
|
1.000 | 0.120 | X | 153693361 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 9 | 2002 | 2015 |