| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.240 | 12 | 21913005 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.240 | 10 | 87933127 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.200 | 14 | 81506329 | intron variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 2 | 88588014 | missense variant | T/C | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
0.790 | 0.360 | 17 | 67894102 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 10 | 94963667 | intron variant | A/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 50853227 | downstream gene variant | T/C;G | snv |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 6 | 50836808 | intron variant | A/G | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.160 | 6 | 50845193 | 3 prime UTR variant | G/A | snv | 0.73 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 8 | 11708019 | 5 prime UTR variant | G/T | snv | 5.9E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.807 | 0.160 | 18 | 22171856 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.776 | 0.280 | 13 | 32380040 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.701 | 0.240 | 16 | 2176350 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.320 | 8 | 60849154 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.120 | 1 | 26697152 | frameshift variant | -/GCCGCCTCCCTCCTCCAGCGCC | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.320 | 8 | 60781285 | frameshift variant | AA/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | 11 | 61783599 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 70874437 | stop gained | C/A | snv |
|
0.700 | 0 |