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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.030 | 1.000 | 3 | 2001 | 2011 | |||||||||
|
0.790 | 0.280 | 13 | 32332796 | frameshift variant | -/CT | ins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 2 | 158102039 | frameshift variant | -/A | ins | 8.0E-05; 6.3E-02 | 0.10 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.030 | 1.000 | 3 | 2001 | 2011 | |||||||||
|
1.000 | 0.040 | 22 | 32518244 | missense variant | CTC/TTT | mnv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
1.000 | 0.040 | 15 | 73633678 | 5 prime UTR variant | A/- | del | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins |
|
0.050 | 1.000 | 5 | 2007 | 2019 | |||||||||
|
1.000 | 0.040 | 22 | 39520622 | 5 prime UTR variant | C/-;CC | delins |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.040 | 10 | 103197862 | upstream gene variant | AA/-;A;AAA | delins |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 3 | 12022928 | intron variant | -/ACA | delins | 0.64 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 3 | 12045603 | intron variant | ATGCT/-;ATGCTATGCT | delins | 0.63 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 12 | 104289006 | frameshift variant | GA/- | delins | 5.6E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.100 | 0.854 | 123 | 1997 | 2019 | |||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.100 | 0.869 | 84 | 2003 | 2019 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.100 | 0.872 | 78 | 2003 | 2019 | ||||||||
|
0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv |
|
0.900 | 0.873 | 62 | 2008 | 2019 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.841 | 44 | 1999 | 2019 | |||||||
|
0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 |
|
0.100 | 0.810 | 42 | 1996 | 2019 | |||||||
|
0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 |
|
0.100 | 0.793 | 29 | 1996 | 2017 | |||||||
|
0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 |
|
0.900 | 0.893 | 26 | 2011 | 2019 | ||||||||
|
0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 |
|
0.100 | 0.885 | 26 | 1994 | 2019 | |||||||
|
0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 |
|
0.900 | 1.000 | 25 | 2010 | 2019 | ||||||||
|
0.752 | 0.200 | 1 | 232008852 | missense variant | A/T | snv | 0.26 | 0.29 |
|
0.100 | 0.818 | 22 | 2005 | 2018 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.684 | 19 | 2005 | 2020 |