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 | 0.851 | 0.160 | 3 | 122284403 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 5 | 132390825 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 11 | 47339323 | splice donor variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 14 | 23429304 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47338549 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47351465 | frameshift variant | -/C | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47332221 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47337420 | frameshift variant | -/TT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47351272 | frameshift variant | TGG/CCTCC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47343146 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.200 | 4 | 185145020 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 14 | 23416105 | inframe deletion | TTC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 14 | 23428631 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.040 | 19 | 55154148 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47335874 | splice donor variant | CA/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 14 | 23429038 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 11 | 47335940 | frameshift variant | -/CGCCACTTGAGGGAGACCGTGGTGTC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47337425 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47346243 | frameshift variant | CTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47346622 | splice donor variant | ACCTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47349921 | splice region variant | -/CTGC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47350591 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47350599 | frameshift variant | -/ATGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 14 | 23416309 | missense variant | A/G | snv | 0.700 | 0 |