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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 8 | 32552592 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
8 | 32542144 | intron variant | T/C | snv | 0.59 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
0.925 | 0.080 | 8 | 32543983 | intron variant | T/G | snv | 0.39 |
|
0.700 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.925 | 0.080 | 8 | 32543983 | intron variant | T/G | snv | 0.39 |
|
0.700 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
1.000 | 8 | 32523319 | intron variant | A/T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
8 | 32578102 | intron variant | C/G | snv | 9.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 32110442 | intron variant | T/C | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.882 | 0.080 | 8 | 32553698 | intron variant | C/T | snv | 0.10 |
|
0.850 | 0.833 | 1 | 2009 | 2019 | ||||||||
|
0.882 | 0.080 | 8 | 32553698 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.040 | 8 | 32840440 | intron variant | A/C | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.040 | 8 | 32840440 | intron variant | A/C | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.040 | 8 | 32840440 | intron variant | A/C | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.040 | 8 | 32840440 | intron variant | A/C | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 8 | 32476054 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 8 | 32476054 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
8 | 32736709 | intron variant | T/-;TT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.776 | 0.200 | 8 | 32574851 | intron variant | G/C | snv | 0.54 |
|
0.830 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
1.000 | 0.040 | 8 | 32575431 | intron variant | A/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 8 | 32575278 | intron variant | G/T | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
8 | 32575235 | intron variant | G/T | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 32554786 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
8 | 32744536 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.080 | 8 | 32552592 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
8 | 32533038 | intron variant | A/-;AA;AAA;AAAA;AAAAAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.080 | 8 | 32543285 | intron variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |