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 | 0.120 | 11 | 66519618 | splice acceptor variant | GTCA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 12 | 76347338 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 16 | 56502382 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 16 | 56497770 | frameshift variant | A/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 58207143 | missense variant | A/G | snv | 4.2E-04 | 1.5E-03 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 16 | 56497063 | stop gained | G/C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 16 | 56497013 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 58207104 | missense variant | C/T | snv | 2.2E-03 | 2.3E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 15 | 72724581 | stop gained | T/A;C | snv | 1.4E-04; 2.0E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 1 | 243344277 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 45835653 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 45827459 | stop gained | C/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 14 | 88870200 | splice donor variant | TGC/- | del | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 122743945 | frameshift variant | ACAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 33155682 | frameshift variant | TT/-;T | delins | 7.3E-05; 8.1E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.240 | 7 | 33152851 | stop gained | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.280 | 1 | 36139776 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 12 | 76347298 | frameshift variant | A/- | del | 2.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 16 | 56497760 | stop gained | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 7 | 33349108 | stop gained | T/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 4 | 122742574 | frameshift variant | -/T | ins | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 15 | 72731650 | stop gained | T/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 121845671 | stop gained | TA/- | delins | 5.2E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.240 | 7 | 33152811 | stop gained | C/T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 16 | 56506137 | stop gained | G/A | snv | 2.8E-05 | 7.0E-06 | 0.700 | 0 |