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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.060 | 1.000 | 6 | 2004 | 2012 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.040 | 1.000 | 4 | 2011 | 2015 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.030 | 1.000 | 3 | 2004 | 2012 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.020 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 1.000 | 2 | 2010 | 2012 | |||||||||
|
0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 |
|
0.020 | 1.000 | 2 | 2004 | 2012 | |||||||
|
0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 |
|
0.020 | 1.000 | 2 | 2004 | 2012 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 1.000 | 2 | 2010 | 2012 | |||||||||
|
0.925 | 0.040 | 19 | 7909761 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
17 | 7676271 | frameshift variant | -/A | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 10 | 124403892 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
8 | 47960120 | missense variant | C/T | snv | 9.7E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
8 | 72005483 | intron variant | T/C | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 43575449 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
3 | 14167204 | missense variant | G/A | snv | 4.1E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
3 | 14146063 | frameshift variant | CCAGTATCCTGGCC/- | del | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 |