| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 188865413 | downstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
8 | 142979538 | downstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
18 | 721563 | downstream gene variant | A/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 2 | 43636315 | upstream gene variant | A/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 26691496 | upstream gene variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
6 | 43294966 | upstream gene variant | A/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv |
|
0.760 | 0.857 | 1 | 2010 | 2018 | |||||||||
|
3 | 27521497 | upstream gene variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 27551369 | upstream gene variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins |
|
0.700 | 0 | ||||||||||||
|
7 | 27119517 | splice region variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||||
|
6 | 43302413 | splice region variant | C/T | snv | 0.37 | 0.43 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.160 | 11 | 64807890 | splice region variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
0.700 | 1.000 | 3 | 2016 | 2018 | |||||||||
|
4 | 88008090 | frameshift variant | CCCGGGCA/TAGGACG | delins |
|
0.700 | 0 | ||||||||||||||
|
0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 10 | 103086421 | 3 prime UTR variant | T/C | snv | 8.6E-02 |
|
0.780 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
11 | 61510226 | 3 prime UTR variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 122991206 | 3 prime UTR variant | A/G | snv | 7.7E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.120 | 7 | 27181212 | 3 prime UTR variant | A/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
11 | 61510774 | 3 prime UTR variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.807 | 0.160 | 1 | 173831632 | splice donor variant | T/A;C;G | snv | 8.0E-06; 3.3E-04; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1 | 112688881 | 5 prime UTR variant | G/T | snv | 6.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 103918139 | 5 prime UTR variant | A/C | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |