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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.800 | 1.000 | 0 | 2000 | 2007 | ||||
|
1 | 0.925 | 0.200 | X | 154031418 | missense variant | T/C | snv | 0.800 | 1.000 | 0 | 2000 | 2007 | |||||
|
8 | 0.851 | 0.120 | X | 154031154 | missense variant | G/A;C | snv | 0.800 | 1.000 | 0 | 2000 | 2007 | |||||
|
2 | 0.925 | 0.080 | X | 154030864 | missense variant | G/A;C | snv | 0.800 | 1.000 | 0 | 2000 | 2007 | |||||
|
7 | 0.807 | 0.080 | X | 154031022 | frameshift variant | C/- | delins | 0.700 | 1.000 | 3 | 1999 | 2012 | |||||
|
4 | 0.882 | 0.080 | X | 154030903 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2007 | 2013 | |||||
|
2 | 1.000 | 0.080 | X | 154030716 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | X | 154030627 | splice acceptor variant | GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.080 | X | 154031374 | missense variant | G/C | snv | 5.5E-06 | 1.9E-05 | 0.700 | 0 | ||||||
|
25 | 0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | X | 154032473 | frameshift variant | TCTT/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | X | 154030686 | frameshift variant | ACGGGGGC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 154030668 | frameshift variant | GG/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.882 | 0.080 | X | 154030665 | stop gained | GG/TA | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 154030412 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
40 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
15 | 0.732 | 0.200 | X | 154031065 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
17 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
8 | 0.790 | 0.160 | X | 154030948 | stop gained | G/A;C | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
9 | 0.807 | 0.120 | X | 154030621 | splice acceptor variant | TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 154030612 | stop gained | G/A | snv | 1.7E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | X | 154030648 | stop gained | C/A;T | snv | 8.7E-05; 4.1E-05 | 0.700 | 0 |