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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.360 | 12 | 101642529 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 7 | 107675051 | missense variant | T/C | snv | 2.7E-04 | 3.4E-04 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.240 | 7 | 107689054 | missense variant | T/A;C | snv | 4.0E-06; 8.6E-04 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 5 | 112204453 | missense variant | G/A | snv | 2.4E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2001 | 2006 | |||||||
|
0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2003 | 2006 | ||||||||
|
0.882 | 0.160 | 1 | 112514896 | stop gained | C/A;T | snv | 1.6E-05; 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | 1 | 11992659 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 2 | 121530892 | non coding transcript exon variant | C/G;T | snv | 7.7E-06; 2.3E-05; 3.5E-04 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 2 | 121530927 | non coding transcript exon variant | G/A | snv | 4.6E-05; 7.7E-06 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 |
|
0.700 | 0 | ||||||||||
|
0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2007 | 2007 | ||||||||
|
0.925 | 0.200 | 9 | 129095573 | missense variant | C/T | snv | 1.2E-04 | 7.7E-05 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.925 | 0.200 | 9 | 129104269 | missense variant | T/C | snv | 1.1E-03 | 7.8E-04 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.851 | 0.360 | 19 | 13025409 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv |
|
0.700 | 0 |