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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv |
|
0.900 | 1.000 | 58 | 1991 | 2019 | |||||||||
|
0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 |
|
0.900 | 0.923 | 52 | 2013 | 2020 | ||||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.100 | 0.868 | 38 | 2004 | 2019 | ||||||||
|
0.790 | 0.240 | 21 | 25891858 | missense variant | G/C | snv |
|
0.760 | 1.000 | 26 | 1991 | 2016 | |||||||||
|
0.851 | 0.080 | 21 | 25891790 | missense variant | C/T | snv |
|
0.730 | 1.000 | 23 | 1991 | 2019 | |||||||||
|
0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv |
|
0.100 | 0.955 | 22 | 1997 | 2020 | |||||||||
|
0.851 | 0.080 | 21 | 25891783 | missense variant | A/C | snv |
|
0.710 | 1.000 | 21 | 1991 | 2005 | |||||||||
|
0.925 | 0.080 | 21 | 25897605 | missense variant | C/G;T | snv |
|
0.720 | 1.000 | 21 | 1991 | 2019 | |||||||||
|
0.882 | 0.080 | 21 | 25891787 | missense variant | T/A;C | snv |
|
0.700 | 1.000 | 20 | 1991 | 2004 | |||||||||
|
0.882 | 0.080 | 21 | 25891793 | missense variant | T/C | snv |
|
0.700 | 1.000 | 20 | 1991 | 2004 | |||||||||
|
0.776 | 0.200 | 1 | 207518704 | intron variant | A/G;T | snv |
|
0.900 | 1.000 | 17 | 2009 | 2019 | |||||||||
|
0.882 | 0.120 | 10 | 103458495 | missense variant | AGC/GGT | mnv |
|
0.100 | 0.933 | 15 | 2008 | 2016 | |||||||||
|
0.882 | 0.120 | 10 | 103458488 | frameshift variant | CAGCGGCC/- | delins |
|
0.100 | 0.933 | 15 | 2008 | 2016 | |||||||||
|
0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv |
|
0.100 | 1.000 | 13 | 1997 | 2018 | |||||||||
|
0.790 | 0.160 | 21 | 26000095 | missense variant | G/A | snv |
|
0.100 | 1.000 | 12 | 2003 | 2020 | |||||||||
|
0.807 | 0.200 | 19 | 44899792 | intron variant | TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | delins |
|
0.100 | 0.900 | 10 | 2012 | 2017 | |||||||||
|
0.882 | 0.120 | 19 | 1063444 | intron variant | A/C;G | snv |
|
0.860 | 1.000 | 10 | 2013 | 2019 | |||||||||
|
0.763 | 0.160 | 21 | 25897626 | missense variant | T/A;G | snv |
|
0.100 | 1.000 | 10 | 1998 | 2018 | |||||||||
|
0.882 | 0.200 | 21 | 25891853 | missense variant | C/T | snv |
|
0.720 | 1.000 | 10 | 2001 | 2019 | |||||||||
|
0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv |
|
0.100 | 1.000 | 10 | 2001 | 2017 | |||||||||
|
0.776 | 0.200 | 21 | 25891855 | missense variant | T/C | snv |
|
0.790 | 1.000 | 9 | 2001 | 2019 | |||||||||
|
0.925 | 0.080 | 11 | 121564878 | intron variant | T/A;C | snv |
|
0.830 | 1.000 | 8 | 2013 | 2019 | |||||||||
|
0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 |
|
0.080 | 0.875 | 8 | 2012 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.080 | 0.875 | 8 | 2000 | 2015 | ||||||||
|
0.763 | 0.160 | 21 | 25897627 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.080 | 1.000 | 8 | 1998 | 2018 |