Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 19 | 11089422 | upstream gene variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11120458 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 19 | 11113708 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11120176 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11105575 | inframe insertion | -/AAATCTGAC | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11113590 | frameshift variant | -/ACAT | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11105255 | frameshift variant | -/ACGATGGGAAGTGCATCTCTCGG | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11129568 | frameshift variant | -/AGAA | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11102667 | frameshift variant | -/AT;T | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 19 | 11110757 | splice donor variant | -/ATGCGAAG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 11105275 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 11120514 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11105353 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11116214 | splice region variant | -/C | ins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 11105570 | frameshift variant | -/CAAGGACAAATCTGACG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 11105564 | frameshift variant | -/CGACTGC | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11105574 | frameshift variant | -/G | delins |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
1.000 | 0.080 | 19 | 11107513 | splice donor variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11102786 | splice donor variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11129540 | frameshift variant | -/G;GG | ins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 19 | 11123284 | frameshift variant | -/GCTG | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 19 | 11116168 | stop gained | -/GCTGGTGA | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 11113262 | coding sequence variant | -/GGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCC | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11111571 | frameshift variant | -/GGCT | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 19 | 11111568 | frameshift variant | -/GTGG | delins |
|
0.700 | 0 |