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 | 0.120 | 1 | 155238570 | missense variant | C/G;T | snv | 1.4E-04; 4.0E-06 | 0.700 | 1.000 | 7 | 1991 | 2016 | ||||
|
15 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.800 | 1.000 | 6 | 1991 | 2019 | ||||
|
3 | 0.882 | 0.120 | 1 | 155235750 | frameshift variant | ACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGG/- | delins | 0.700 | 1.000 | 5 | 1993 | 2016 | |||||
|
2 | 0.925 | 0.120 | 1 | 155236277 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 1994 | 2016 | ||||
|
1 | 1.000 | 0.120 | 1 | 155235712 | stop gained | G/A | snv | 0.700 | 1.000 | 4 | 1995 | 2011 | |||||
|
1 | 1.000 | 0.120 | 1 | 155238299 | frameshift variant | AG/- | del | 0.700 | 1.000 | 4 | 2005 | 2008 | |||||
|
2 | 0.925 | 0.120 | 1 | 155237579 | splice acceptor variant | C/G | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2007 | 2018 | ||||
|
5 | 0.827 | 0.120 | 1 | 155236298 | missense variant | C/G | snv | 0.700 | 1.000 | 3 | 1997 | 2018 | |||||
|
5 | 0.827 | 0.120 | 1 | 155238270 | missense variant | G/A | snv | 1.3E-05 | 0.700 | 1.000 | 3 | 2000 | 2006 | ||||
|
8 | 0.776 | 0.160 | 1 | 155235196 | missense variant | G/A;T | snv | 7.2E-05; 4.0E-06 | 0.710 | 1.000 | 3 | 1994 | 2007 | ||||
|
8 | 0.776 | 0.160 | 1 | 155240629 | splice donor variant | C/A;T | snv | 7.6E-05 | 0.700 | 1.000 | 2 | 1992 | 2012 | ||||
|
6 | 0.807 | 0.120 | 1 | 155238192 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2000 | 2000 | ||||
|
3 | 0.882 | 0.120 | 1 | 155235757 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2005 | 2006 | |||||
|
1 | 1.000 | 0.120 | 1 | 155238265 | frameshift variant | G/- | delins | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
1 | 1.000 | 0.120 | 1 | 155235819 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2008 | ||||
|
11 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.800 | 0.966 | 2 | 1994 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 155239939 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.120 | 1 | 155238242 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 1997 | 2013 | |||||
|
1 | 1.000 | 0.120 | 1 | 155235790 | stop gained | C/A;T | snv | 1.7E-04 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.120 | 1 | 155236417 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 1 | 155236440 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
4 | 0.851 | 0.120 | 1 | 155238141 | missense variant | A/C;T | snv | 4.0E-06; 4.4E-05 | 0.710 | 1.000 | 0 | 2008 | 2008 | ||||
|
3 | 0.807 | 0.160 | 1 | 155235726 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 1 | 155238629 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 155240651 | frameshift variant | -/C | ins | 0.700 | 0 |