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 | 0.080 | X | 48901944 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.810 | 1.000 | 6 | 2003 | 2015 | ||||||||
|
0.925 | 0.080 | X | 48902391 | frameshift variant | AGAG/-;AG;AGAGAG | delins |
|
0.700 | 1.000 | 6 | 1962 | 2011 | |||||||||
|
0.925 | 0.080 | X | 48902391 | frameshift variant | AGAG/-;AG;AGAGAG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 4 | 1994 | 2007 | ||||||||
|
1.000 | 0.080 | X | 48902788 | splice donor variant | -/C;CCCC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 3 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | X | 48902740 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | X | 48902391 | frameshift variant | AGAG/-;AG;AGAGAG | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | X | 48902391 | frameshift variant | AGAG/-;AG;AGAGAG | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | X | 48902391 | frameshift variant | AGAG/-;AG;AGAGAG | delins |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | X | 48902391 | frameshift variant | AGAG/-;AG;AGAGAG | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 48902484 | frameshift variant | GAGCTGGCTCCCTATCCCAAGAG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.200 | X | 48903017 | missense variant | C/T | snv |
|
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 | 0.120 | X | 48902470 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | X | 48902470 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | X | 48901944 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2016 | 2016 |