| 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 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.240 | 13 | 32340817 | frameshift variant | TCTC/-;TC;TCTCTC | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 41224643 | inframe deletion | TCT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.080 | 11 | 74634505 | intron variant | T/G | snv | 0.40 |
|
0.810 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
0.776 | 0.080 | 20 | 6718948 | regulatory region variant | T/G | snv | 0.28 |
|
0.710 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.790 | 0.080 | 12 | 117309785 | intron variant | T/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.790 | 0.080 | 12 | 6302870 | intergenic variant | T/G | snv | 1.0E-01 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.160 | 20 | 63677259 | intron variant | T/G | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 19 | 33029021 | intron variant | T/G | snv | 7.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.240 | 10 | 8047173 | intron variant | T/G | snv | 0.70 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.200 | 1 | 99580690 | intron variant | T/G | snv | 0.35 |
|
0.710 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.790 | 0.080 | 19 | 33034013 | intron variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.689 | 0.360 | 11 | 69227030 | intergenic variant | T/G | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 3 | 53054269 | intron variant | T/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 131116884 | missense variant | T/G | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.800 | 1.000 | 14 | 2002 | 2015 | ||||||||
|
0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 |
|
0.710 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
0.752 | 0.400 | 3 | 179210192 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2005 | 2005 | |||||||||
|
0.790 | 0.080 | 5 | 40280100 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.776 | 0.080 | 9 | 98917470 | regulatory region variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 16 | 77356036 | missense variant | T/C;G | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 47804943 | missense variant | T/C | snv |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||||
|
0.827 | 0.200 | 2 | 47799329 | missense variant | T/C | snv | 1.2E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
0.732 | 0.160 | 15 | 32702555 | intergenic variant | T/C | snv | 0.67 |
|
0.870 | 1.000 | 5 | 2008 | 2016 |