Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2011 | 2016 | ||||||||
|
1.000 | 3 | 52403415 | splice donor variant | C/- | delins |
|
0.700 | 1.000 | 3 | 2011 | 2016 | ||||||||||
|
1.000 | 3 | 52402608 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2008 | 2014 | |||||||||
|
0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 3 | 2011 | 2015 | |||||||||
|
1.000 | 3 | 52409716 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
1.000 | 3 | 52405296 | splice acceptor variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
1.000 | 3 | 52402787 | stop gained | T/A | snv |
|
0.700 | 1.000 | 2 | 2012 | 2015 | ||||||||||
|
1.000 | 3 | 52404550 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
1.000 | 3 | 52406908 | splice acceptor variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
1.000 | 3 | 52407398 | splice donor variant | C/A | snv |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
1.000 | 3 | 52403299 | splice acceptor variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
1.000 | 3 | 52406378 | splice acceptor variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
1.000 | 3 | 52408459 | splice donor variant | CAGAGTCCAGCAGACCT/- | del |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
1.000 | 3 | 52409841 | splice donor variant | C/A | snv |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
1.000 | 3 | 52406251 | splice donor variant | A/G | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
1.000 | 3 | 52406279 | stop gained | G/A;T | snv | 1.6E-05 |
|
0.700 | 1.000 | 2 | 2011 | 2013 | |||||||||
|
1.000 | 3 | 52406279 | stop gained | G/A;T | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 3 | 52408551 | stop gained | G/A;T | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 3 | 52406896 | stop gained | C/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 3 | 52407243 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 3 | 52409597 | frameshift variant | CC/-;CCC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins |
|
Neoplasms | 0.700 | 1.000 | 1 | 2015 | 2015 |