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 | 11 | 118473352 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 22 | 1989 | 2017 | ||||||||||
|
1.000 | 11 | 118473352 | frameshift variant | A/- | del |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 22 | 1989 | 2017 | |||||||||
|
1.000 | 11 | 118473420 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 22 | 1989 | 2017 | ||||||||||
|
1.000 | 11 | 118473420 | frameshift variant | C/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 22 | 1989 | 2017 | |||||||||
|
1.000 | 11 | 118481728 | frameshift variant | GA/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 22 | 1989 | 2017 | |||||||||
|
1.000 | 11 | 118481728 | frameshift variant | GA/- | delins |
|
0.700 | 1.000 | 22 | 1989 | 2017 | ||||||||||
|
1.000 | 11 | 118481870 | stop gained | C/T | snv |
|
0.700 | 1.000 | 22 | 1989 | 2017 | ||||||||||
|
1.000 | 11 | 118482436 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 22 | 1989 | 2017 | |||||||||
|
1.000 | 11 | 118482436 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 22 | 1989 | 2017 | ||||||||||
|
1.000 | 11 | 118484971 | splice donor variant | -/AG | delins |
|
0.700 | 1.000 | 22 | 1989 | 2017 | ||||||||||
|
1.000 | 11 | 118503042 | stop gained | C/T | snv |
|
0.700 | 1.000 | 22 | 1989 | 2017 | ||||||||||
|
1.000 | 11 | 118503078 | frameshift variant | -/CAGAT | delins |
|
0.700 | 1.000 | 22 | 1989 | 2017 | ||||||||||
|
1.000 | 11 | 118503078 | frameshift variant | -/CAGAT | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 22 | 1989 | 2017 | |||||||||
|
1.000 | 11 | 118503389 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 22 | 1989 | 2017 | ||||||||||
|
1.000 | 11 | 118503389 | frameshift variant | A/- | del |
|
Nervous System Diseases | 0.700 | 1.000 | 22 | 1989 | 2017 | |||||||||
|
1.000 | 11 | 118503389 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 22 | 1989 | 2017 | |||||||||
|
11 | 118505003 | frameshift variant | GTTT/- | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 22 | 1989 | 2017 | ||||||||||
|
11 | 118505003 | frameshift variant | GTTT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 22 | 1989 | 2017 | ||||||||||
|
1.000 | 11 | 118519746 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 22 | 1989 | 2017 | ||||||||||
|
1.000 | 11 | 118519746 | frameshift variant | C/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 22 | 1989 | 2017 | |||||||||
|
1.000 | 11 | 118521302 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 22 | 1989 | 2017 | ||||||||||
|
1.000 | 11 | 118436642 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 22 | 1989 | 2017 | ||||||||||
|
0.925 | 0.240 | 11 | 118473471 | frameshift variant | C/-;CC | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 22 | 1989 | 2017 | ||||||||
|
0.925 | 0.240 | 11 | 118473471 | frameshift variant | C/-;CC | delins |
|
0.700 | 1.000 | 22 | 1989 | 2017 | |||||||||
|
0.925 | 0.240 | 11 | 118473471 | frameshift variant | C/-;CC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 22 | 1989 | 2017 |