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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.320 | 8 | 99391647 | stop gained | -/ATCATATCAGGCCTCTGAA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99192883 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99661353 | splice acceptor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99821480 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99823828 | splice acceptor variant | AGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99391694 | frameshift variant | AA/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99721048 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99699519 | splice acceptor variant | TATAGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99820011 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99038567 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99135734 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99431557 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99121279 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99013936 | splice donor variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 8 | 99835739 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99102962 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99854061 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99832653 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99142985 | frameshift variant | AACAAGAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99861836 | frameshift variant | CACTGGATGA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99818890 | splice donor variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99275246 | frameshift variant | A/CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99142991 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.320 | 8 | 99096433 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99717221 | frameshift variant | A/- | delins | 0.700 | 0 |