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 | 120543779 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 10 | 2000 | 2017 | ||||||||||
|
1.000 | X | 120538659 | splice donor variant | C/- | delins |
|
0.700 | 1.000 | 10 | 2000 | 2017 | ||||||||||
|
1.000 | X | 120547191 | stop gained | G/A | snv |
|
0.700 | 1.000 | 10 | 2000 | 2017 | ||||||||||
|
1.000 | X | 120547191 | stop gained | G/A | snv |
|
0.700 | 1.000 | 10 | 2000 | 2017 | ||||||||||
|
0.925 | 0.080 | X | 120544179 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | X | 120544179 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | X | 120544179 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | X | 120544179 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | X | 120558012 | missense variant | G/A | snv | 1.7E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 4 | 2007 | 2010 | |||||||
|
1.000 | 0.080 | X | 120539326 | frameshift variant | GT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 120544607 | frameshift variant | AATAT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 120539349 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 0 | |||||||||||
|
0.925 | 0.080 | X | 120544179 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 120541640 | frameshift variant | TC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 120539261 | splice donor variant | TTAC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 120545519 | splice acceptor variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 120538659 | splice donor variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 120560544 | missense variant | G/A | snv | 9.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
X | 120544122 | stop gained | C/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 10 | 2000 | 2017 | ||||||||||
|
1.000 | 0.040 | X | 120557964 | missense variant | T/C | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | X | 120557964 | missense variant | T/C | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | X | 120526816 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.200 | X | 120547154 | frameshift variant | TG/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | X | 120538659 | splice donor variant | C/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 10 | 2000 | 2017 | |||||||||
|
1.000 | 0.040 | X | 120557964 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |