| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.080 | 14 | 104703445 | stop gained | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 108586717 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.280 | X | 108586729 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.040 | 1.000 | 4 | 2001 | 2013 | |||||||
|
0.925 | 0.080 | 7 | 131509412 | stop gained | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.200 | 9 | 132911492 | frameshift variant | -/A;AA | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | X | 13756600 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 7 | 139715976 | synonymous variant | G/C | snv | 0.27 | 0.37 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.763 | 0.240 | 17 | 16948873 | missense variant | A/G | snv | 3.5E-03 | 3.9E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
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 | ||||||||||||
|
0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
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 | ||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.020 | 1.000 | 2 | 2003 | 2009 | |||||||
|
0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 |
|
0.020 | 1.000 | 2 | 2003 | 2015 | ||||||||
|
0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 |
|
0.020 | 1.000 | 2 | 2000 | 2015 | ||||||||
|
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 | ||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 17 | 45290287 | intron variant | T/C | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |