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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | 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 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47335874 | splice donor variant | CA/- | delins | 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 | 11 | 47332643 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47333331 | splice acceptor variant | TGTCTGCGGGAGAC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47338547 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47342893 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 47347481 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47350565 | frameshift variant | CA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47350595 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47336000 | stop gained | C/A;T | snv | 5.4E-04 | 1.2E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 11 | 47332896 | stop gained | G/A;T | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 11 | 47332244 | stop gained | C/A;T | snv | 7.0E-06 | 0.700 | 0 |