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 | 17 | 58692790 | splice donor variant | TAACGA/CTAAG | delins |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||||
|
0.925 | 17 | 58724049 | stop gained | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 17 | 58724049 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 17 | 58724049 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
17 | 58703244 | frameshift variant | AT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 17 | 58724038 | splice acceptor variant | A/- | del | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 17 | 58724038 | splice acceptor variant | A/- | del | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 17 | 58703330 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 4 | 2010 | 2016 | ||||||||||
|
1.000 | 17 | 58703330 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||||
|
1.000 | 17 | 58694964 | frameshift variant | CT/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 17 | 58694964 | frameshift variant | CT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||||
|
17 | 58694999 | frameshift variant | ACCAA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 17 | 58703254 | stop gained | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||||
|
1.000 | 17 | 58703254 | stop gained | T/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 58724038 | splice acceptor variant | A/C;G | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2013 | 2016 | ||||||||
|
1.000 | 17 | 58724038 | splice acceptor variant | A/C;G | snv | 1.2E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
17 | 58724105 | splice region variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.882 | 0.200 | 17 | 58709862 | stop gained | C/T | snv | 1.6E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2014 | 2017 | ||||||
|
0.882 | 0.200 | 17 | 58709862 | stop gained | C/T | snv | 1.6E-05 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2017 | |||||||
|
0.882 | 0.200 | 17 | 58709862 | stop gained | C/T | snv | 1.6E-05 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2017 | |||||||
|
0.882 | 0.200 | 17 | 58709862 | stop gained | C/T | snv | 1.6E-05 | 1.4E-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 | 0 | |||||||||
|
0.925 | 0.120 | 17 | 58696811 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.120 | 17 | 58696811 | frameshift variant | -/C | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 17 | 58695189 | stop gained | G/A;C | snv | 4.1E-06 |
|
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 | 7 | 2012 | 2018 | |||||||
|
0.827 | 0.200 | 17 | 58695189 | stop gained | G/A;C | snv | 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 2012 | 2017 |