Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 1 | 45331684 | missense variant | A/G | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45331769 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
2 | 0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 45330558 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45331476 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45331800 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45331462 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45332164 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45334446 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45332458 | frameshift variant | GTGCTA/AGCAGCTG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45331422 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45332576 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 45332310 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 45331197 | frameshift variant | G/-;GGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45331262 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 1 | 45331512 | frameshift variant | -/TC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45332290 | frameshift variant | A/CT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45332780 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45333138 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45333152 | frameshift variant | -/TGACCTCTGAGACC | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 1 | 45333321 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45330517 | protein altering variant | ATACAGGT/TGGGCTGTTGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45333583 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45332479 | missense variant | C/T | snv | 7.6E-05 | 1.5E-04 | 0.700 | 0 | ||||||
|
1 | 0.827 | 0.200 | 1 | 45331729 | missense variant | G/A | snv | 3.8E-04 | 1.1E-04 | 0.700 | 0 |