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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 22 | 28687982 | frameshift variant | -/A | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2003 | 2014 | ||||||||
|
1.000 | 0.080 | 22 | 28699866 | frameshift variant | -/A | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
22 | 28725044 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 22 | 28695774 | frameshift variant | -/ACAAGAA | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 28734566 | frameshift variant | -/ACTG | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 28689154 | frameshift variant | -/G | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
22 | 28695852 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
22 | 28734452 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 22 | 28734690 | frameshift variant | -/G | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 28695222 | frameshift variant | -/G | ins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
22 | 28687970 | frameshift variant | -/G | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
22 | 28712007 | frameshift variant | -/GGAG | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 22 | 28695133 | frameshift variant | -/T | delins | 2.0E-05 | 3.5E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2004 | 2016 | ||||||
|
1.000 | 0.080 | 22 | 28695133 | frameshift variant | -/T | delins | 2.0E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2016 | 2016 | ||||||
|
22 | 28689173 | frameshift variant | -/TC | delins | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||||
|
22 | 28719413 | frameshift variant | -/TGAT | delins | 1.8E-05; 1.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 22 | 28725085 | frameshift variant | -/TTCT | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.360 | 22 | 28695239 | frameshift variant | A/- | delins | 4.4E-05 | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 2011 | 2016 | ||||||
|
0.827 | 0.360 | 22 | 28695239 | frameshift variant | A/- | delins | 4.4E-05 | 5.6E-05 |
|
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 | 5 | 2011 | 2016 | ||||||
|
1.000 | 0.080 | 22 | 28734445 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2016 | 2016 | ||||||||
|
0.827 | 0.360 | 22 | 28695239 | frameshift variant | A/- | delins | 4.4E-05 | 5.6E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||||
|
1.000 | 0.080 | 22 | 28695715 | frameshift variant | A/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
22 | 28725062 | frameshift variant | A/- | delins | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 22 | 28703511 | frameshift variant | A/- | delins | 4.9E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 22 | 28703511 | frameshift variant | A/- | delins | 4.9E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2015 | 2015 |