| 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 | 150724317 | upstream gene variant | GCTTCTGCA/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 198625652 | intergenic variant | C/T | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 198710886 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 67015161 | intron variant | AAAAAAAA/-;AA;AAAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAAA;AAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 101236803 | upstream gene variant | T/C | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 158613048 | intron variant | G/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 56661246 | intron variant | C/T | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 8438266 | 3 prime UTR variant | -/G | delins | 0.66 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 206496132 | missense variant | C/T | snv | 0.20 | 0.17 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 101236992 | splice donor variant | G/- | del | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 101239021 | missense variant | C/A;G;T | snv | 4.0E-06; 1.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 56442048 | intron variant | G/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 160824707 | intron variant | C/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 203688474 | intron variant | T/-;TT;TTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 101182070 | regulatory region variant | C/T | snv | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 101279090 | intergenic variant | C/G | snv | 1.2E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 101267901 | downstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 160450317 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 226427015 | intergenic variant | C/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 181121038 | intron variant | A/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 143404536 | intron variant | A/G | snv | 3.1E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 43224818 | missense variant | G/A;T | snv | 6.7E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 111116484 | intron variant | CTCTGAAAACCTGAAATG/- | delins | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |