| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.695 | 0.440 | 16 | 4800548 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.320 | 12 | 112489069 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.160 | 17 | 10656089 | splice donor variant | C/T | snv | 1.2E-03 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.440 | 5 | 177235863 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.732 | 0.200 | 15 | 48420752 | missense variant | A/G;T | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.708 | 0.280 | 15 | 48505106 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.360 | 1 | 25811710 | missense variant | G/A;C;T | snv | 4.3E-06; 4.3E-06; 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 15 | 48452676 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 38469119 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 16 | 81357848 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 6 | 87548623 | missense variant | A/C | snv | 2.2E-04 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.360 | 11 | 94447276 | stop gained | G/A;C;T | snv | 2.8E-05; 4.0E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 6 | 87514995 | frameshift variant | T/- | delins | 1.6E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 10 | 87960913 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.400 | 16 | 4798593 | frameshift variant | G/-;GGG | delins | 3.5E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.160 | 12 | 13567164 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.280 | 9 | 92718565 | missense variant | G/A;T | snv |
|
0.700 | 0 |