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 | 1.000 | 0.120 | 22 | 28694059 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.160 | 22 | 28695709 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 1.000 | 6 | 1999 | 2017 | |||
|
7 | 0.790 | 0.240 | 22 | 28725254 | missense variant | G/A;T | snv | 5.2E-05 | 0.710 | 1.000 | 4 | 2001 | 2012 | ||||
|
1 | 1.000 | 0.120 | 17 | 7668202 | intron variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 17 | 7669692 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 7670649 | stop gained | G/A;T | snv | 2.0E-05 | 0.700 | 1.000 | 4 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.120 | 17 | 7670658 | stop gained | TGAGTTCCA/C | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 17 | 7670669 | missense variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 17 | 7670678 | missense variant | A/G | snv | 0.800 | 1.000 | 3 | 1990 | 2017 | |||||
|
3 | 0.882 | 0.200 | 17 | 7670684 | missense variant | C/G;T | snv | 8.0E-06 | 0.720 | 1.000 | 9 | 1998 | 2015 | ||||
|
3 | 0.882 | 0.200 | 17 | 7670685 | stop gained | G/A | snv | 0.700 | 1.000 | 11 | 2006 | 2016 | |||||
|
2 | 0.925 | 0.120 | 17 | 7670694 | stop gained | C/A;G;T | snv | 8.0E-06; 6.4E-05 | 0.700 | 1.000 | 3 | 1998 | 2016 | ||||
|
7 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.900 | 0.977 | 14 | 1990 | 2020 | ||||
|
3 | 0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv | 0.810 | 1.000 | 10 | 1990 | 2014 | |||||
|
2 | 1.000 | 0.120 | 17 | 7670716 | splice acceptor variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2000 | 2010 | |||||
|
2 | 0.925 | 0.200 | 17 | 7673534 | splice donor variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 2000 | 2016 | |||||
|
2 | 1.000 | 0.120 | 17 | 7673534 | splice donor variant | C/- | delins | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 1.000 | 0.120 | 17 | 7673535 | missense variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2018 | |||||
|
1 | 1.000 | 0.120 | 17 | 7673535 | frameshift variant | CTGA/- | del | 0.700 | 0 | ||||||||
|
3 | 0.851 | 0.240 | 17 | 7673552 | stop gained | C/A | snv | 0.710 | 1.000 | 0 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.120 | 17 | 7673555 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 7673579 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 17 | 7673579 | stop gained | G/A;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.200 | 17 | 7673609 | splice acceptor variant | C/A;G;T | snv | 0.700 | 0 |