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 | 14 | 28767830 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 14 | 28768359 | frameshift variant | -/G | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 15 | 1989 | 2017 | |||||||||
|
1.000 | 14 | 28768359 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 15 | 1989 | 2017 | ||||||||||
|
1.000 | 0.120 | 14 | 28767449 | frameshift variant | -/GCCGCCCGCC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 14 | 28767779 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 28767964 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 28768036 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 28767973 | missense variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 14 | 28768138 | stop gained | A/T | snv |
|
0.700 | 1.000 | 15 | 1989 | 2017 | ||||||||||
|
1.000 | 14 | 28768138 | stop gained | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 15 | 1989 | 2017 | |||||||||
|
0.925 | 0.160 | 14 | 28767832 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 14 | 28767832 | missense variant | A/T | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 28767447 | frameshift variant | ACCCGCCGCC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 28768066 | frameshift variant | ACGTG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 28767678 | frameshift variant | AGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 28768223 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
1.000 | 0.120 | 14 | 28767573 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 28768248 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 28767529 | frameshift variant | C/-;CC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
1.000 | 0.120 | 14 | 28767411 | frameshift variant | C/-;CC;CCC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 14 | 28767840 | missense variant | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 15 | 1989 | 2017 | |||||||||
|
1.000 | 14 | 28767840 | missense variant | C/A;G | snv |
|
0.700 | 1.000 | 15 | 1989 | 2017 | ||||||||||
|
0.925 | 0.120 | 14 | 28768479 | stop gained | C/A;G;T | snv | 6.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 14 | 28768479 | stop gained | C/A;G;T | snv | 6.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | ||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
0.700 | 0 |