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 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 1 | 102912180 | inframe deletion | CCTCACCAGATGGGCCAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 1 | 216073096 | splice donor variant | C/T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
1.000 | 0.040 | 2 | 227010441 | missense variant | C/T | snv | 7.2E-05 | 3.5E-05 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 2 | 227059468 | missense variant | C/G | snv | 7.2E-05 | 3.5E-05 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 4 | 185145020 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.200 | 6 | 35509903 | frameshift variant | -/G | delins | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 6 | 157181137 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.200 | 6 | 79026079 | stop gained | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.360 | 6 | 157181155 | frameshift variant | AA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.440 | 7 | 140777014 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.160 | 8 | 143817591 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.280 | 9 | 99138006 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.400 | 9 | 137728379 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | 9 | 84751990 | missense variant | A/G | snv |
|
0.700 | 0 |