| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 11 | 86277110 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 11 | 65885181 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.360 | X | 133536175 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.200 | 7 | 5987033 | frameshift variant | GC/ACT | delins |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.851 | 0.200 | 11 | 77190108 | missense variant | G/A | snv | 7.5E-05 | 5.6E-05 |
|
0.700 | 1.000 | 13 | 1995 | 2011 | |||||||
|
11 | 77156991 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 13 | 1995 | 2011 | |||||||||
|
0.925 | 0.160 | 15 | 72346579 | frameshift variant | -/GATA | delins | 4.0E-06; 8.0E-04 | 4.5E-04 |
|
0.700 | 1.000 | 11 | 1986 | 2011 | |||||||
|
1.000 | 0.120 | 12 | 76348313 | frameshift variant | AACGCCGC/- | delins |
|
0.700 | 1.000 | 17 | 1999 | 2013 | |||||||||
|
0.752 | 0.280 | 12 | 76347713 | frameshift variant | -/A | delins | 6.0E-04 |
|
0.700 | 1.000 | 17 | 1999 | 2013 | ||||||||
|
0.807 | 0.240 | 12 | 76348214 | missense variant | G/A | snv | 4.8E-05 | 4.9E-05 |
|
0.700 | 1.000 | 17 | 1999 | 2013 | |||||||
|
12 | 76346181 | missense variant | C/A;G | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 17 | 1999 | 2013 | |||||||||
|
1.000 | 5 | 126549924 | splice region variant | C/T | snv | 2.0E-05 | 1.4E-05 |
|
0.700 | 1.000 | 9 | 1996 | 2013 | ||||||||
|
0.925 | 0.040 | 12 | 21817283 | missense variant | C/T | snv |
|
0.700 | 1.000 | 8 | 1999 | 2013 | |||||||||
|
11 | 47336012 | splice acceptor variant | C/G | snv |
|
0.700 | 1.000 | 7 | 1995 | 2013 | |||||||||||
|
5 | 13792128 | stop gained | G/A | snv | 3.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 6 | 2002 | 2013 | |||||||||
|
0.851 | 0.240 | 13 | 32354921 | frameshift variant | CT/- | delins | 2.8E-05 |
|
0.700 | 1.000 | 6 | 2005 | 2013 | ||||||||
|
1.000 | 7 | 148829806 | missense variant | C/G | snv |
|
0.700 | 1.000 | 5 | 1998 | 2013 | ||||||||||
|
0.882 | 0.120 | 16 | 56484820 | stop gained | G/A | snv | 3.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2007 | 2013 | |||||||
|
1.000 | 2 | 166051871 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 19 | 1997 | 2014 | ||||||||||
|
1.000 | X | 17727350 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 7 | 2002 | 2014 |