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 | 0.040 | 17 | 39725161 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 17 | 39509731 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.240 | 17 | 39723966 | missense variant | TT/CC | mnv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 7 | 55181318 | protein altering variant | -/GTC | ins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 17 | 39724728 | inframe insertion | -/ATACGTGATGGC | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 17 | 39724745 | inframe insertion | -/TGTGGGCTC | delins |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.730 | 0.750 | 1 | 2016 | 2019 | ||||||||
|
0.827 | 0.080 | 2 | 29220765 | missense variant | G/T | snv |
|
0.700 | 1.000 | 3 | 2012 | 2014 | |||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2012 | 2016 | ||||||||
|
0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv |
|
0.700 | 1.000 | 2 | 2012 | 2014 | |||||||||
|
1.000 | 0.040 | 2 | 29220734 | missense variant | G/T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2014 | |||||||||
|
0.882 | 0.160 | X | 47566722 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.925 | 0.080 | 7 | 55174785 | missense variant | G/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2005 | 2014 | ||||||||
|
0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.730 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
0.776 | 0.200 | 2 | 29220829 | missense variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2014 | |||||||||
|
0.763 | 0.400 | 15 | 66435117 | missense variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.763 | 0.280 | 15 | 44711547 | start lost | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |