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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 17 | 58732536 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
1 | 17 | 58696785 | frameshift variant | T/- | delins | 4.0E-06 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||||
|
1 | 17 | 58724105 | splice region variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||
|
1 | 17 | 58703244 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 17 | 58703316 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||||
|
1 | 17 | 58709972 | frameshift variant | A/- | delins | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 17 | 58694927 | splice acceptor variant | TCA/- | del | 0.700 | 0 | ||||||||||
|
1 | 17 | 58694929 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||||
|
1 | 17 | 58694983 | stop gained | -/AATG | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 58695062 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 17 | 58696719 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 58696850 | frameshift variant | AAGG/- | del | 0.700 | 0 | ||||||||||
|
1 | 17 | 58703245 | frameshift variant | TATT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 58709858 | splice acceptor variant | G/T | snv | 0.700 | 0 | ||||||||||
|
1 | 17 | 58720813 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||||
|
1 | 17 | 58695099 | stop gained | C/G | snv | 0.700 | 0 | ||||||||||
|
1 | 17 | 58703275 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 58694943 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||||
|
1 | 17 | 58696787 | frameshift variant | -/TA | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 58694999 | frameshift variant | ACCAA/- | delins | 0.700 | 0 | ||||||||||
|
2 | 0.882 | 0.120 | 17 | 58709926 | missense variant | G/A | snv | 4.4E-05; 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 4 | 2010 | 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 | 58692789 | splice donor variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
2 | 1.000 | 17 | 58724037 | splice acceptor variant | CAGGG/- | del | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||
|
2 | 1.000 | 17 | 58732523 | stop gained | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2002 | 2017 |