| 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 | 0.120 | 5 | 112839531 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
5 | 112838674 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.080 | 18 | 51065518 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 7 | 1996 | 2007 | |||||||||
|
18 | 51065532 | missense variant | C/A | snv |
|
0.700 | 1.000 | 7 | 1996 | 2007 | |||||||||||
|
18 | 51078417 | missense variant | G/T | snv |
|
0.700 | 1.000 | 7 | 1996 | 2007 | |||||||||||
|
1.000 | 0.120 | 18 | 51065456 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 7 | 1996 | 2007 | |||||||||
|
0.925 | 0.080 | 1 | 22909025 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.732 | 0.160 | 16 | 68787043 | intron variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.776 | 0.080 | 12 | 50761880 | upstream gene variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.776 | 0.080 | 20 | 62345988 | intron variant | T/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.776 | 0.080 | 1 | 221872104 | intergenic variant | G/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.320 | 12 | 25225627 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 8 | 2005 | 2011 | ||||||||
|
0.807 | 0.320 | 12 | 25225628 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 8 | 2005 | 2011 | |||||||||
|
0.732 | 0.120 | 6 | 160419220 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
3 | 179218315 | missense variant | G/A | snv |
|
0.700 | 1.000 | 10 | 2004 | 2012 | |||||||||||
|
1.000 | 0.080 | 10 | 87933236 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 10 | 2004 | 2012 | |||||||||
|
0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 10 | 2004 | 2012 | |||||||||
|
1.000 | 0.080 | 10 | 87958013 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 10 | 2004 | 2012 | |||||||||
|
0.882 | 0.080 | 7 | 140753338 | inframe insertion | -/TAG | delins | 4.0E-06 |
|
0.700 | 1.000 | 6 | 2009 | 2012 | ||||||||
|
7 | 55160314 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.790 | 0.080 | X | 9783434 | intron variant | T/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.160 | 2 | 191722478 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.080 | 4 | 93965880 | intergenic variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.752 | 0.160 | 10 | 116727589 | intron variant | T/C | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |