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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
X | 18604030 | frameshift variant | AAACCTTGCTGGAG/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 17 | 2004 | 2016 | ||||||||||
|
1.000 | X | 18604131 | frameshift variant | -/AC | delins |
|
0.700 | 1.000 | 17 | 2004 | 2016 | ||||||||||
|
0.925 | 0.080 | X | 18588055 | missense variant | A/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 17 | 2004 | 2016 | ||||||||
|
0.925 | 0.080 | X | 18588055 | missense variant | A/C | snv |
|
0.700 | 1.000 | 17 | 2004 | 2016 | |||||||||
|
1.000 | 0.040 | X | 18604169 | frameshift variant | AG/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 17 | 2004 | 2016 | ||||||||
|
1.000 | X | 18647191 | missense variant | C/T | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | ||||||||||
|
1.000 | X | 18642102 | missense variant | G/A | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | ||||||||||
|
0.925 | 0.040 | X | 18642101 | missense variant | G/A | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | |||||||||
|
0.925 | 0.040 | X | 18642090 | missense variant | G/A | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | |||||||||
|
1.000 | X | 18642083 | missense variant | A/G | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | ||||||||||
|
1.000 | X | 18642081 | missense variant | G/A | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | ||||||||||
|
1.000 | X | 18642080 | missense variant | C/T | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | ||||||||||
|
0.925 | 0.040 | X | 18642058 | missense variant | G/A;C;T | snv | 5.5E-06 |
|
0.700 | 1.000 | 13 | 1997 | 2016 | ||||||||
|
0.882 | 0.040 | X | 18642053 | missense variant | C/T | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | |||||||||
|
0.925 | 0.040 | X | 18642041 | missense variant | C/T | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | |||||||||
|
0.882 | 0.040 | X | 18642042 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | |||||||||
|
1.000 | X | 18642036 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | ||||||||||
|
1.000 | X | 18642032 | missense variant | A/G | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | ||||||||||
|
1.000 | X | 18642024 | missense variant | A/C;G | snv | 5.5E-06 |
|
0.700 | 1.000 | 13 | 1997 | 2016 | |||||||||
|
1.000 | X | 18647224 | missense variant | G/T | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | ||||||||||
|
1.000 | X | 18647209 | missense variant | A/C | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | ||||||||||
|
0.925 | 0.040 | X | 18647194 | missense variant | A/C | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | |||||||||
|
1.000 | X | 18644623 | missense variant | C/T | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | ||||||||||
|
0.882 | 0.040 | X | 18644616 | missense variant | C/A;G | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 | |||||||||
|
1.000 | X | 18644615 | missense variant | G/A | snv |
|
0.700 | 1.000 | 13 | 1997 | 2016 |