| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 21 | 42363329 | missense variant | C/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 5 | 112838233 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 16 | 68812189 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 16 | 23614089 | frameshift variant | T/- | delins | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 12 | 109903156 | missense variant | T/C | snv | 6.5E-04 | 1.7E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 19 | 1223035 | missense variant | C/G;T | snv | 9.2E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 5 | 112839106 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 16 | 68810224 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 5 | 132489448 | missense variant | A/G | snv |
|
0.700 | 1.000 | 2 | 1998 | 1999 | |||||||||
|
0.827 | 0.120 | 16 | 68822063 | missense variant | G/A;T | snv | 3.3E-03; 2.4E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.882 | 0.240 | 12 | 25245370 | missense variant | T/A;C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 1987 | 2003 | ||||||||
|
0.851 | 0.160 | 12 | 25227349 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 3 | 1987 | 2003 | |||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 3 | 1987 | 2003 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 4 | 1987 | 2004 | ||||||||
|
0.807 | 0.200 | 3 | 37025648 | frameshift variant | A/- | del |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.080 | 6 | 159692850 | synonymous variant | G/A | snv | 4.2E-06 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.120 | 15 | 74750069 | frameshift variant | CT/- | delins | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 17 | 39724744 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2004 | 2007 | |||||||||
|
0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 |
|
0.020 | 1.000 | 2 | 2006 | 2007 |