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 | 16 | 68808552 | frameshift variant | -/A | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 4 | 2007 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 68808552 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2007 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 68833320 | frameshift variant | -/C | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 4 | 1999 | 2018 | ||||||||
|
1.000 | 0.080 | 16 | 68829739 | frameshift variant | -/C | delins | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||||
|
1.000 | 0.080 | 16 | 68833320 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
16 | 68822063 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
16 | 68819392 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 16 | 68823489 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 68823489 | frameshift variant | -/C | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 68801874 | frameshift variant | -/CCGCCCC | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
16 | 68833339 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
16 | 68822034 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 16 | 68801862 | frameshift variant | -/G | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
16 | 68813407 | frameshift variant | -/GT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 16 | 68801709 | frameshift variant | -/T | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
16 | 68808755 | frameshift variant | -/T | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
16 | 68819300 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
16 | 68823440 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 16 | 68815760 | splice donor variant | -/T;TT | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 4 | 2008 | 2014 | ||||||||
|
1.000 | 0.080 | 16 | 68815760 | splice donor variant | -/T;TT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2008 | 2014 | ||||||||
|
16 | 68766738 | intron variant | -/T;TT;TTTTTTTT;TTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 68813409 | frameshift variant | -/TA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
0.882 | 0.160 | 16 | 68736944 | upstream gene variant | A/- | del | 0.80 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 16 | 68736944 | upstream gene variant | A/- | del | 0.80 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 16 | 68736944 | upstream gene variant | A/- | del | 0.80 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 |