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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.120 | 21 | 46114006 | splice acceptor variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.701 | 0.240 | 16 | 2176350 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 1 | 119033203 | missense variant | T/C | snv | 6.4E-05 | 2.3E-04 |
|
0.700 | 0 | ||||||||||
|
2 | 32116153 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||||
|
0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 14 | 64767787 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 21 | 34834536 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 9 | 110687218 | missense variant | A/G | snv | 2.4E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 9 | 110800760 | missense variant | G/C | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 1 | 119033279 | stop gained | G/A | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.400 | 6 | 157207241 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.020 | 0.500 | 2 | 2011 | 2012 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2019 | |||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.020 | 1.000 | 2 | 2009 | 2012 | |||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.925 | 0.080 | 5 | 148827354 | missense variant | C/A;T | snv | 0.23; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |