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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.240 | 13 | 32354921 | frameshift variant | CT/- | delins | 2.8E-05 |
|
0.700 | 1.000 | 6 | 2005 | 2013 | ||||||||
|
0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 |
|
0.700 | 1.000 | 4 | 2010 | 2017 | |||||||
|
0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 |
|
0.700 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
10 | 60167108 | intron variant | C/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.851 | 0.280 | 12 | 101770496 | inframe deletion | GTG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 6 | 33441318 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 12 | 101770161 | missense variant | T/C;G | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
2 | 161419040 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 6 | 33440746 | frameshift variant | -/AGGA | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 9 | 127661133 | frameshift variant | A/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 12 | 13569964 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.320 | 16 | 16190246 | missense variant | C/T | snv | 8.4E-05 | 1.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.100 | 1.000 | 18 | 2004 | 2019 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.100 | 1.000 | 17 | 2004 | 2019 | ||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.100 | 1.000 | 12 | 2008 | 2018 | |||||||
|
0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 |
|
0.050 | 0.200 | 5 | 2007 | 2020 | ||||||||
|
0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 |
|
0.040 | 1.000 | 4 | 2014 | 2018 |