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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 9 | 132911492 | frameshift variant | -/A;AA | delins |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.763 | 0.280 | 12 | 88083936 | stop gained | T/A | snv | 5.5E-05 | 9.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 4 | 76181009 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 16 | 20348247 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 16 | 2111276 | inframe insertion | -/GTG | ins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | X | 108586729 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 14 | 104703445 | stop gained | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 12 | 88062772 | frameshift variant | C/- | del | 4.7E-05; 5.2E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.160 | X | 13756600 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.851 | 0.080 | 17 | 63477301 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.827 | 0.240 | 7 | 95411704 | missense variant | G/C | snv | 0.27 | 0.27 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 7 | 95424695 | intron variant | T/G | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.763 | 0.240 | 17 | 16948873 | missense variant | A/G | snv | 3.5E-03 | 3.9E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.677 | 0.440 | 7 | 95405463 | missense variant | G/C | snv | 0.27 | 0.27 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.763 | 0.200 | 2 | 227253336 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.020 | 1.000 | 2 | 2003 | 2009 | |||||||
|
0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 17 | 45290287 | intron variant | T/C | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |