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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 11 | 47337502 | frameshift variant | -/A | delins | 4.0E-06; 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2004 | 2014 | |||
|
1 | 1.000 | 0.040 | 11 | 47339677 | frameshift variant | -/A | delins | 4.1E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 11 | 47337468 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 47333297 | frameshift variant | -/A | ins | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.080 | 11 | 47349876 | frameshift variant | -/A | delins | 8.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 11 | 47346303 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47350574 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 47337708 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47332241 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 47348494 | frameshift variant | -/AAGGCAGGCTGGGCATCGGTGATGTG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47332968 | splice acceptor variant | -/ACTC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47350599 | frameshift variant | -/ATGG | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 11 | 47337729 | frameshift variant | -/C | delins | 2.1E-05 | 0.700 | 1.000 | 11 | 1998 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 47351465 | frameshift variant | -/C | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47342893 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 11 | 47337791 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 47333226 | frameshift variant | -/C | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 11 | 47333580 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47333202 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 47342842 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 11 | 47332126 | inframe insertion | -/CAGACATAGATGCCCCCG | delins | 2.8E-05 | 0.700 | 1.000 | 8 | 1995 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 47351315 | frameshift variant | -/CC | delins | 4.9E-06; 1.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 11 | 47335940 | frameshift variant | -/CGCCACTTGAGGGAGACCGTGGTGTC | delins | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.040 | 12 | 110914287 | frameshift variant | -/CT | ins | 8.0E-06 | 0.040 | 1.000 | 4 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 11 | 47349921 | splice region variant | -/CTGC | delins | 0.700 | 0 |