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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | X | 53199128 | missense variant | C/T | snv |
|
0.700 | 1.000 | 12 | 2005 | 2016 | |||||||||
|
0.925 | 0.080 | X | 53199128 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | X | 53210820 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | X | 53210820 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53197768 | splice donor variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53197768 | splice donor variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | X | 53216085 | frameshift variant | AG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | X | 53194576 | frameshift variant | AGAGC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | X | 53194576 | frameshift variant | AGAGC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | X | 53194576 | frameshift variant | AGAGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | X | 53194576 | frameshift variant | AGAGC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | X | 53194576 | frameshift variant | AGAGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | X | 53194576 | frameshift variant | AGAGC/- | delins |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53198524 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | X | 53195978 | stop gained | G/A | snv |
|
0.700 | 1.000 | 12 | 2005 | 2016 | ||||||||||
|
1.000 | X | 53195978 | stop gained | G/A | snv |
|
0.700 | 1.000 | 12 | 2005 | 2016 | ||||||||||
|
1.000 | X | 53196897 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 12 | 2005 | 2016 | |||||||||
|
1.000 | X | 53196897 | stop gained | G/A | snv |
|
0.700 | 1.000 | 12 | 2005 | 2016 | ||||||||||
|
1.000 | 0.080 | X | 53201925 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53217205 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53194604 | frameshift variant | CCAC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53215951 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53217207 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53224790 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53224889 | start lost | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 2 | 2012 | 2015 |