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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 28768011 | frameshift variant | CCACTACGAC/- | del |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 15 | 1989 | 2017 | ||||||||||
|
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 | |||||||||
|
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 | 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 | 0.160 | 14 | 28767733 | frameshift variant | G/-;GG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 6 | 2010 | 2017 | ||||||||
|
1.000 | 0.120 | 14 | 28767922 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 3 | 2010 | 2016 | ||||||||
|
1.000 | 0.120 | 14 | 28768009 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 3 | 2011 | 2014 | ||||||||
|
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 | 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 | 28767449 | frameshift variant | -/GCCGCCCGCC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 14 | 28768203 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 14 | 28768203 | stop gained | G/A | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | 14 | 28767833 | missense variant | G/C;T | snv |
|
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 | 28768044 | stop gained | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 28767780 | frameshift variant | G/-;GG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 28767493 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
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 | 28767992 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 28768043 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 28768103 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.925 | 0.240 | 14 | 28768345 | frameshift variant | T/- | delins |
|
0.700 | 0 |