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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 14 | 95103856 | stop gained | G/T | snv | 0.700 | 1.000 | 4 | 2009 | 2016 | |||||
|
3 | 0.925 | 0.080 | 14 | 95096510 | frameshift variant | AAGA/- | delins | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.040 | 14 | 95116680 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
2 | 1.000 | 0.040 | 14 | 95113091 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 2014 | |||||
|
1 | 14 | 95096365 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 14 | 95105698 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 1.000 | 0.040 | 14 | 95106198 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 14 | 95103721 | stop gained | G/A;C | snv | 2.8E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 0.040 | 14 | 95115704 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 14 | 95113106 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 14 | 95103807 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 14 | 95105752 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95124246 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95103858 | frameshift variant | AAGA/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 14 | 95105784 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 14 | 95116472 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95099900 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95095936 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 14 | 95096461 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 14 | 95126606 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95094017 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95095994 | frameshift variant | ACAA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95096108 | stop gained | G/T | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95096655 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95117730 | frameshift variant | TT/- | del | 0.700 | 0 |