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 | 0.851 | 0.200 | 17 | 58695008 | stop gained | -/A | delins | 0.700 | 1.000 | 4 | 2010 | 2016 | |||||
|
1 | 17 | 58696719 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 17 | 58695174 | frameshift variant | -/A | delins | 0.700 | 0 | |||||||||
|
1 | 17 | 58694983 | stop gained | -/AATG | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 58696787 | frameshift variant | -/TA | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 58709972 | frameshift variant | A/- | delins | 4.0E-06 | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 58724097 | frameshift variant | A/- | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 58724038 | splice acceptor variant | A/- | del | 7.0E-06 | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 17 | 58709857 | splice acceptor variant | A/C;G | snv | 2.0E-05 | 2.1E-05 | 0.700 | 1.000 | 6 | 2011 | 2016 | |||
|
2 | 1.000 | 17 | 58724038 | splice acceptor variant | A/C;G | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 2013 | 2016 | |||||
|
2 | 1.000 | 17 | 58703194 | splice acceptor variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 17 | 58694929 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.120 | 17 | 58696790 | stop gained | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 17 | 58720744 | splice acceptor variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
2 | 1.000 | 17 | 58695035 | stop gained | A/T | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 58694970 | frameshift variant | AA/- | delins | 0.700 | 0 | |||||||||
|
1 | 17 | 58696850 | frameshift variant | AAGG/- | del | 0.700 | 0 | ||||||||||
|
1 | 17 | 58694999 | frameshift variant | ACCAA/- | delins | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 17 | 58724038 | splice acceptor variant | AG/- | del | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
1 | 17 | 58703275 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 58703244 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
2 | 1.000 | 17 | 58720757 | frameshift variant | ATCA/-;ATCAATCA | delins | 0.700 | 0 | |||||||||
|
1 | 17 | 58694943 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||||
|
4 | 0.882 | 0.200 | 17 | 58695182 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 5 | 2012 | 2017 | ||||
|
3 | 0.925 | 17 | 58724090 | stop gained | C/A;T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 2012 | 2016 |