| 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 | 0.080 | 12 | 53309624 | missense variant | A/G | snv | 1.2E-04 | 4.9E-05 |
|
0.700 | 1.000 | 6 | 1980 | 2015 | |||||||
|
1.000 | 2 | 70958103 | missense variant | G/A | snv | 2.0E-05 | 9.1E-05 |
|
0.700 | 1.000 | 9 | 1995 | 2017 | ||||||||
|
0.882 | 0.200 | X | 77589902 | missense variant | A/G | snv |
|
0.700 | 1.000 | 21 | 1992 | 2017 | |||||||||
|
1.000 | 1 | 165743244 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 4 | 2010 | 2014 | |||||||||
|
1.000 | 2 | 55249467 | frameshift variant | CTTTTTTCACT/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 2 | 135133919 | frameshift variant | GT/- | delins | 1.4E-05 |
|
0.700 | 1.000 | 4 | 2005 | 2013 | |||||||||
|
1.000 | 1 | 235401503 | missense variant | G/C | snv | 7.0E-06 |
|
0.700 | 1.000 | 6 | 1991 | 2016 | |||||||||
|
1.000 | 12 | 109511304 | splice donor variant | G/A;T | snv |
|
0.700 | 1.000 | 8 | 2003 | 2018 | ||||||||||
|
1.000 | 1 | 151406306 | stop gained | G/A;T | snv | 7.0E-06 |
|
0.700 | 1.000 | 13 | 1999 | 2017 | |||||||||
|
1.000 | 14 | 99176115 | stop gained | G/A;C | snv | 4.1E-06 |
|
0.700 | 1.000 | 19 | 2003 | 2016 | |||||||||
|
1.000 | 19 | 13298827 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | ||||||||||
|
0.925 | 0.080 | 11 | 71435394 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 16 | 1994 | 2013 | |||||||||
|
1 | 210348976 | start lost | A/G;T | snv | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2004 | 2014 | ||||||||||
|
0.925 | 2 | 232486499 | frameshift variant | ACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGAAGCCCGG/- | delins | 3.3E-04 | 1.1E-04 |
|
0.700 | 1.000 | 5 | 2013 | 2015 | ||||||||
|
1.000 | 17 | 8007529 | splice donor variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 9 | 2000 | 2018 | ||||||||
|
9 | 136523954 | stop gained | G/A | snv | 6.2E-06 |
|
0.700 | 1.000 | 19 | 1999 | 2019 | ||||||||||
|
20 | 45952244 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2009 | 2016 | ||||||||||
|
0.925 | 3 | 136473546 | missense variant | C/T | snv |
|
0.700 | 1.000 | 5 | 2012 | 2017 | ||||||||||
|
1.000 | 12 | 6587756 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 9 | 2010 | 2017 | ||||||||||
|
0.925 | 0.040 | X | 64192215 | stop gained | G/A;T | snv | 1.6E-05 |
|
0.700 | 1.000 | 8 | 1980 | 2017 | ||||||||
|
0.827 | 0.280 | 2 | 26195184 | missense variant | C/G | snv | 1.2E-03 | 1.0E-03 |
|
0.700 | 1.000 | 4 | 2002 | 2017 | |||||||
|
0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 21 | 2002 | 2016 | |||||||||
|
0.882 | 0.120 | 5 | 61073136 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 |
|
0.700 | 1.000 | 9 | 2000 | 2016 | |||||||
|
0.882 | 0.080 | 14 | 96876033 | stop gained | C/G;T | snv | 6.4E-05; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.240 | 8 | 144513412 | stop gained | G/A | snv | 1.2E-04 | 8.4E-05 |
|
0.700 | 1.000 | 5 | 2006 | 2015 |