| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 17 | 39724728 | inframe insertion | -/ATACGTGATGGC | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 7 | 55181318 | protein altering variant | -/GTC | ins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 9 | 33422490 | intergenic variant | -/T;TT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 17 | 39724745 | inframe insertion | -/TGTGGGCTC | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 3 | 189625454 | intergenic variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 2 | 29222404 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.790 | 0.240 | 15 | 66435116 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.200 | 3 | 179221147 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.160 | 3 | 179203763 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.280 | 17 | 7673810 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.160 | 10 | 103927874 | intergenic variant | A/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.280 | 6 | 30112216 | intron variant | A/C | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 15 | 78668187 | intron variant | A/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 17 | 64055926 | missense variant | A/C | snv | 1.0E-02; 6.8E-06 | 1.0E-02 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.240 | 17 | 7673811 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.200 | 8 | 127738434 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 11 | 108333954 | missense variant | A/C;G | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.360 | 17 | 7675191 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.240 | 17 | 7673812 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |