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 | 0.280 | 16 | 89279695 | stop gained | G/A;T | snv |
|
0.700 | 1.000 | 17 | 2004 | 2017 | |||||||||
|
1.000 | 16 | 89279215 | stop gained | G/A | snv |
|
0.700 | 1.000 | 17 | 2004 | 2017 | ||||||||||
|
1.000 | 16 | 89281005 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 17 | 2004 | 2017 | ||||||||||
|
1.000 | 16 | 89281640 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 17 | 2004 | 2017 | ||||||||||
|
1.000 | 16 | 89282837 | frameshift variant | ATTT/- | delins |
|
0.700 | 1.000 | 17 | 2004 | 2017 | ||||||||||
|
1.000 | 16 | 89282837 | frameshift variant | ATTT/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 17 | 2004 | 2017 | |||||||||
|
1.000 | 16 | 89283207 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 17 | 2004 | 2017 | |||||||||
|
1.000 | 16 | 89283207 | frameshift variant | -/T | delins |
|
0.700 | 1.000 | 17 | 2004 | 2017 | ||||||||||
|
1.000 | 16 | 89283207 | frameshift variant | -/T | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 17 | 2004 | 2017 | |||||||||
|
1.000 | 16 | 89284048 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 17 | 2004 | 2017 | ||||||||||
|
1.000 | 16 | 89284412 | stop gained | C/T | snv |
|
0.700 | 1.000 | 17 | 2004 | 2017 | ||||||||||
|
1.000 | 16 | 89284412 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 17 | 2004 | 2017 | |||||||||
|
1.000 | 16 | 89284912 | frameshift variant | GTGCTGGT/- | delins |
|
0.700 | 1.000 | 17 | 2004 | 2017 | ||||||||||
|
1.000 | 16 | 89284912 | frameshift variant | GTGCTGGT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 17 | 2004 | 2017 | |||||||||
|
0.925 | 0.280 | 16 | 89285079 | frameshift variant | CT/- | delins |
|
0.700 | 1.000 | 17 | 2004 | 2017 | |||||||||
|
1.000 | 16 | 89285153 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 17 | 2004 | 2017 | ||||||||||
|
1.000 | 16 | 89285160 | frameshift variant | CT/- | delins |
|
0.700 | 1.000 | 17 | 2004 | 2017 | ||||||||||
|
0.925 | 0.280 | 16 | 89279750 | frameshift variant | G/-;GG | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 17 | 2004 | 2017 | ||||||||
|
0.925 | 0.280 | 16 | 89279750 | frameshift variant | G/-;GG | delins |
|
0.700 | 1.000 | 17 | 2004 | 2017 | |||||||||
|
0.925 | 0.280 | 16 | 89282771 | frameshift variant | TT/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 17 | 2004 | 2017 | ||||||||
|
0.925 | 0.280 | 16 | 89282771 | frameshift variant | TT/- | delins |
|
0.700 | 1.000 | 17 | 2004 | 2017 | |||||||||
|
0.925 | 0.280 | 16 | 89284345 | stop gained | G/A;T | snv |
|
0.700 | 1.000 | 17 | 2004 | 2017 | |||||||||
|
16 | 89295870 | intron variant | ATGTG/- | delins | 0.83 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 16 | 89388583 | intron variant | T/C | snv | 2.0E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
16 | 89374136 | intron variant | C/G | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |