| 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 | 7 | 140753332 | inframe deletion | TTT/- | del |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.080 | 4 | 54727443 | inframe deletion | TTGTTG/-;TTG | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 3 | 41224575 | inframe deletion | TTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.800 | 1.000 | 30 | 1989 | 2019 | |||||||||
|
1.000 | 0.040 | 9 | 21971147 | frameshift variant | TGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACT/- | delins |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.800 | 1.000 | 16 | 2005 | 2019 | |||||||||
|
0.851 | 0.080 | 9 | 77794572 | missense variant | TG/AA | mnv |
|
0.030 | 1.000 | 3 | 2012 | 2018 | |||||||||
|
1.000 | 0.040 | 4 | 54727474 | missense variant | T/G | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 19 | 4117543 | missense variant | T/G | snv |
|
0.710 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
1.000 | 0.040 | 9 | 21757804 | intergenic variant | T/G | snv | 0.32 |
|
0.710 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.882 | 0.120 | 20 | 34141638 | regulatory region variant | T/G | snv | 0.73 |
|
0.710 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
1.000 | 0.040 | 5 | 159079407 | intron variant | T/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.080 | 11 | 89294875 | intron variant | T/G | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 4 | 54670209 | intron variant | T/G | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 1207058 | missense variant | T/G | snv |
|
0.800 | 0 | ||||||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.720 | 1.000 | 9 | 2002 | 2016 | ||||||||
|
0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 7 | 1997 | 2004 | |||||||||
|
0.925 | 0.120 | 9 | 21971147 | missense variant | T/C;G | snv | 4.7E-06 |
|
0.020 | 1.000 | 2 | 1999 | 2015 | ||||||||
|
0.807 | 0.200 | 2 | 201288355 | 3 prime UTR variant | T/C;G | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.080 | 9 | 106298549 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.763 | 0.360 | 7 | 140753393 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 |