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 | 0.200 | 15 | 48488433 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.360 | 17 | 44862753 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 19 | 35729980 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | X | 74591586 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.400 | X | 53647576 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.240 | 15 | 48488112 | splice donor variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.689 | 0.480 | 7 | 92501562 | missense variant | C/T | snv | 3.2E-04 | 3.5E-04 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.240 | 22 | 18078405 | frameshift variant | C/-;CC | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 4 | 5719239 | intron variant | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.480 | 4 | 6301794 | stop gained | C/T | snv | 6.0E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 11 | 78112692 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.280 | 9 | 92718565 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 1 | 149923568 | frameshift variant | TCGAGGGGGAACTGGTGGCC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | X | 41343249 | stop gained | G/T | snv |
|
0.700 | 0 |