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 | 0.925 | 0.120 | 22 | 32518208 | missense variant | GG/AA | mnv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 12 | 101757657 | splice acceptor variant | GC/AT | mnv | 0.700 | 0 | ||||||||
|
20 | 0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 1.000 | 2 | 218649090 | frameshift variant | TT/- | del | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
12 | 0.851 | 0.200 | 17 | 67909751 | splice donor variant | GAAGGACCAAGG/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 1.000 | 2 | 218646330 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
8 | 0.851 | 0.120 | 10 | 129963375 | frameshift variant | TCTC/- | del | 0.700 | 0 | ||||||||
|
4 | 0.925 | 6 | 41587455 | frameshift variant | T/- | del | 0.700 | 0 | |||||||||
|
6 | 0.827 | 0.160 | X | 54812169 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | X | 77508625 | frameshift variant | A/- | del | 0.700 | 0 | |||||||||
|
5 | 0.925 | 0.080 | 5 | 140114444 | inframe deletion | TCG/- | del | 0.700 | 0 | ||||||||
|
10 | 0.882 | 0.200 | 16 | 16157770 | frameshift variant | A/- | del | 8.4E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 5 | 37153962 | frameshift variant | TC/- | del | 0.700 | 0 | |||||||||
|
8 | 0.827 | 0.280 | 17 | 80210679 | stop gained | GGAGGTCCTTG/- | del | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.040 | 5 | 161897251 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.240 | 13 | 32354921 | frameshift variant | CT/- | delins | 2.8E-05 | 0.700 | 1.000 | 6 | 2005 | 2013 | ||||
|
6 | 0.851 | 0.120 | X | 119841185 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 3 | 2007 | 2012 | |||||
|
4 | 0.925 | 0.080 | 17 | 2666053 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 3 | 1999 | 2003 | |||||
|
4 | 0.925 | X | 72464626 | protein altering variant | TGGAG/AC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 0.882 | 0.040 | 7 | 76063554 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.120 | 21 | 33553079 | frameshift variant | GGTAT/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.851 | 0.160 | 11 | 1451405 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.925 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.925 | 0.040 | 5 | 150273157 | splice acceptor variant | C/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.882 | 0.040 | 11 | 681045 | inframe deletion | CTT/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 |