| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.360 | 13 | 108208829 | stop gained | G/A | snv | 9.9E-05 | 7.0E-05 |
|
0.700 | 1.000 | 2 | 2001 | 2014 | |||||||
|
0.925 | 0.160 | 13 | 108209756 | frameshift variant | AG/-;AGAG | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.120 | 12 | 11869601 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.120 | 12 | 11884481 | missense variant | T/C | snv |
|
0.710 | 1.000 | 0 | 2015 | 2015 | |||||||||
|
1.000 | 12 | 11884541 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.120 | 12 | 11885921 | coding sequence variant | GAACA/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 12 | 11885968 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.827 | 0.360 | X | 124365758 | splice region variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 11 | 128810620 | frameshift variant | ATTA/- | delins |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.080 | 3 | 129061921 | missense variant | A/G | snv | 4.8E-04 | 7.4E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.160 | 9 | 133426240 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 9 | 133442718 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 16 | 1449081 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 1 | 155236292 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 1 | 155239655 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | 2 | 162273810 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.925 | 0.040 | 2 | 191009916 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
0.925 | 0.080 | 22 | 19723980 | stop gained | G/A;C | snv | 7.5E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1 | 22086463 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.040 | 7 | 25123996 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2019 | |||||||||
|
1.000 | 0.120 | 10 | 27100445 | 5 prime UTR variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 10 | 27100460 | 5 prime UTR variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 |
|
0.700 | 0 | ||||||||||
|
21 | 34799310 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
21 | 34859476 | missense variant | C/T | snv |
|
0.700 | 0 |