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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.160 | 17 | 42901026 | frameshift variant | GT/- | del | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.160 | 15 | 72346307 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.200 | 12 | 101768036 | splice donor variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.200 | 12 | 101764303 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 12 | 101764547 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 9 | 34649523 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
25 | 0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 | 0.700 | 0 | |||||||
|
27 | 0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
63 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
17 | 0.790 | 0.400 | 1 | 92833544 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.160 | 6 | 49618113 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.280 | 12 | 101761307 | frameshift variant | -/CTTTGTGA | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.160 | 12 | 101786204 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.040 | 17 | 75830577 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.040 | 17 | 75836430 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.160 | 16 | 88646212 | non coding transcript exon variant | G/C | snv | 0.700 | 0 | ||||||||
|
8 | 1.000 | 0.080 | 17 | 42907570 | frameshift variant | ATGGTCACATCTA/- | del | 0.700 | 0 | ||||||||
|
4 | 1.000 | X | 77841252 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
10 | 0.807 | 0.280 | 12 | 101764363 | frameshift variant | CTTTT/-;CTTTTCTTTT | delins | 2.8E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
7 | 0.925 | 0.240 | 16 | 30756714 | missense variant | G/A | snv | 8.0E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
6 | 0.882 | 0.200 | 12 | 101786012 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.040 | 10 | 70600517 | missense variant | C/G | snv | 6.8E-05 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.160 | 1 | 155236292 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.120 | 1 | 155235303 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.240 | 14 | 74493191 | splice donor variant | A/G | snv | 0.700 | 0 |