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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 1.000 | 8 | 2000 | 2016 | ||||
|
3 | 0.882 | 0.120 | X | 154031373 | missense variant | G/C;T | snv | 0.700 | 1.000 | 8 | 2000 | 2016 | |||||
|
19 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 1.000 | 8 | 2000 | 2013 | ||||
|
1 | 1.000 | 0.080 | X | 154030638 | splice acceptor variant | TCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGG/CATCCCAGGACGCAGGTGGATCCGAGTCTGCTGCATAGACGGCCATTAGGTCCCAGGATGGAGCTGGATTCGAGCCTGCTGTGCTCCAAATGGTTACGGTGGTGAATTCTGTT | delins | 0.700 | 1.000 | 6 | 2000 | 2011 | |||||
|
3 | 0.882 | 0.080 | X | 154030628 | splice acceptor variant | TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/- | delins | 0.700 | 1.000 | 6 | 2000 | 2012 | |||||
|
2 | 0.925 | 0.080 | X | 154030519 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 5 | 2000 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 154030479 | frameshift variant | -/A | delins | 0.700 | 1.000 | 4 | 2000 | 2013 | |||||
|
8 | 0.851 | 0.120 | X | 154031154 | missense variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2000 | 2001 | |||||
|
1 | 1.000 | 0.080 | X | 154031448 | missense variant | G/A | snv | 0.700 | 1.000 | 7 | 2001 | 2012 | |||||
|
2 | 0.925 | 0.080 | X | 154031360 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 6 | 2001 | 2015 | |||||
|
5 | 0.851 | 0.200 | X | 154031329 | missense variant | G/A;T | snv | 0.700 | 1.000 | 5 | 2001 | 2016 | |||||
|
3 | 0.925 | 0.080 | X | 154030939 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.080 | X | 154030969 | frameshift variant | CTTT/- | delins | 0.700 | 1.000 | 6 | 2004 | 2012 | |||||
|
2 | 0.925 | 0.080 | X | 154030691 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 4 | 2004 | 2011 | |||||
|
1 | 1.000 | 0.080 | X | 154030827 | frameshift variant | TTCCC/- | del | 0.700 | 1.000 | 2 | 2006 | 2010 | |||||
|
9 | 0.807 | 0.120 | X | 154030621 | splice acceptor variant | TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- | delins | 0.700 | 1.000 | 5 | 2007 | 2012 | |||||
|
1 | 1.000 | 0.080 | X | 154030511 | frameshift variant | CG/- | delins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | X | 154030808 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2010 | 2010 |