| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.925 | 0.160 | 4 | 2831573 | missense variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2012 | 2014 | |||||||||
|
0.925 | 0.160 | 7 | 94423065 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.240 | 11 | 68357673 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 17 | 50195926 | synonymous variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 20 | 6770235 | missense variant | T/C;G | snv | 2.4E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.807 | 0.160 | 20 | 6778468 | missense variant | A/G;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 11 | 68309770 | upstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 8 | 118911634 | regulatory region variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.851 | 0.160 | 11 | 68406721 | missense variant | G/A;C | snv | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.790 | 0.280 | 17 | 50196337 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.240 | 17 | 50193990 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 3 | 193618885 | synonymous variant | G/A | snv | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.240 | 21 | 43063074 | coding sequence variant | -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG | delins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.160 | 13 | 33054001 | missense variant | T/A;G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 17 | 50197009 | splice donor variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 11 | 46312636 | inframe deletion | AAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | X | 111681268 | missense variant | T/A | snv |
|
0.700 | 0 |