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 | 99442636 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99868333 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99121318 | frameshift variant | AC/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99820116 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99870863 | frameshift variant | CAAA/TGT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99699821 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99720515 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99121240 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99699777 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99096396 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99853495 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99818485 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99699797 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99717186 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99720342 | splice region variant | GTCTTCTGGGGTCAAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99170098 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99821307 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99820081 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99766796 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99835625 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99835676 | frameshift variant | CC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99642105 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.320 | 8 | 99871527 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99501716 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 8 | 99766903 | stop gained | A/C;T | snv | 4.0E-06 | 0.700 | 0 |