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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.200 | 17 | 43076577 | frameshift variant | -/A | 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 | 0 | |||||||||||
|
0.925 | 0.200 | 17 | 43076577 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 17 | 43082475 | frameshift variant | -/A | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 43082517 | frameshift variant | -/A | ins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 43091706 | frameshift variant | -/A | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 43091715 | frameshift variant | -/A | ins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 43091881 | frameshift variant | -/A | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 43091950 | frameshift variant | -/A | ins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 43092420 | frameshift variant | -/A | ins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 43092664 | frameshift variant | -/A | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 43092680 | frameshift variant | -/A | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 43093085 | frameshift variant | -/A | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 43093636 | frameshift variant | -/A | ins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 43094016 | frameshift variant | -/A | ins |
|
0.700 | 0 | |||||||||||||
|
17 | 43094088 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 17 | 43094135 | frameshift variant | -/A | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.200 | 17 | 43094137 | frameshift variant | -/A | 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 | 0 | |||||||||||
|
17 | 43094167 | frameshift variant | -/A | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 17 | 43094350 | frameshift variant | -/A | ins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 43094702 | frameshift variant | -/A | ins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 43104186 | frameshift variant | -/A | ins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.200 | 17 | 43104188 | frameshift variant | -/A | 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 | 0 | |||||||||||
|
1.000 | 17 | 43106526 | frameshift variant | -/A | ins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.200 | 17 | 43091804 | frameshift variant | -/A | 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 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 43093628 | frameshift variant | -/A | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 |