| 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 | 16 | 23603476 | frameshift variant | -/AA | delins |
|
0.700 | 1.000 | 5 | 2007 | 2015 | |||||||||
|
1.000 | 0.080 | 22 | 28695774 | frameshift variant | -/ACAAGAA | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 2 | 214780693 | frameshift variant | -/ACCT | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 22 | 28734566 | frameshift variant | -/ACTG | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 13 | 32363410 | frameshift variant | -/AG | ins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 16 | 23635512 | frameshift variant | -/AG | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 17 | 61801374 | frameshift variant | -/AG | ins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 16 | 23622989 | frameshift variant | -/AT | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 10 | 87961033 | stop gained | -/ATATCTAG | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.200 | 13 | 32398403 | frameshift variant | -/ATTT | delins |
|
0.700 | 0 | ||||||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.833 | 42 | 2003 | 2018 | |||||||||
|
0.882 | 0.080 | 13 | 32319111 | frameshift variant | -/C | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 17 | 61776412 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 2 | 214781249 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 2 | 214809539 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 17 | 61744467 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 13 | 32339717 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 17 | 61780342 | frameshift variant | -/C | ins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 43094390 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 17 | 43093198 | frameshift variant | -/CA | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 5 | 113071088 | splice donor variant | -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT | delins |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 16 | 23622998 | frameshift variant | -/CTTGTTGA | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 16 | 23635121 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 2 | 2015 | 2018 | |||||||||
|
1.000 | 0.080 | 22 | 28689154 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2003 | 2003 |