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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 16 | 23636036 | frameshift variant | CT/- | delins | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 14 | 2010 | 2017 | |||||||
|
0.851 | 0.280 | 16 | 23635788 | frameshift variant | AG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 11 | 2007 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23607911 | frameshift variant | AG/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 8 | 2006 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 23635787 | frameshift variant | -/A | delins | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 2012 | 2017 | |||||||
|
1.000 | 0.080 | 16 | 23635787 | frameshift variant | -/A | delins | 1.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 8 | 2012 | 2017 | |||||||
|
1.000 | 0.080 | 16 | 23603512 | frameshift variant | AG/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 8 | 2009 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23622982 | frameshift variant | -/A | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 7 | 2007 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23603563 | frameshift variant | -/T | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 7 | 2009 | 2016 | ||||||||
|
1.000 | 0.120 | 16 | 23621357 | splice region variant | C/G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 7 | 2007 | 2015 | |||||||
|
1.000 | 0.080 | 16 | 23635795 | stop gained | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 2009 | 2015 | |||||||
|
1.000 | 0.080 | 16 | 23623131 | splice acceptor variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 2011 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23603512 | frameshift variant | AG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 2009 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 23603497 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2007 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23603476 | frameshift variant | -/AA | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 23603477 | frameshift variant | AATA/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
0.925 | 0.200 | 16 | 23623044 | frameshift variant | TT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2007 | 2017 | ||||||||
|
0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2007 | 2016 | |||||||
|
1.000 | 0.080 | 16 | 23621427 | frameshift variant | A/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2012 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23603563 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2014 | 2017 | ||||||||
|
1.000 | 0.120 | 16 | 23634893 | stop gained | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2007 | 2015 | ||||||||
|
0.925 | 0.200 | 16 | 23623003 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2007 | 2014 | ||||||||
|
0.851 | 0.280 | 16 | 23635788 | frameshift variant | AG/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2007 | 2015 | ||||||||
|
0.882 | 0.080 | 16 | 23635519 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2011 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23626266 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2011 | 2017 | ||||||||
|
0.925 | 0.200 | 16 | 23623044 | frameshift variant | TT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2011 | 2016 |