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 | 17 | 58692790 | splice donor variant | T/G | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 17 | 58692790 | splice donor variant | T/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 58695014 | frameshift variant | G/- | delins |
|
0.700 | 0 | |||||||||||||
|
17 | 58703316 | stop gained | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
0.882 | 0.200 | 17 | 58709884 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
0.882 | 0.200 | 17 | 58709884 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
0.882 | 0.200 | 17 | 58709884 | frameshift variant | T/- | 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 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.200 | 17 | 58709884 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 17 | 58720757 | frameshift variant | ATCA/-;ATCAATCA | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 58720757 | frameshift variant | ATCA/-;ATCAATCA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||||
|
1.000 | 17 | 58734147 | frameshift variant | TCTGCATGTT/- | delins | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.882 | 0.080 | 17 | 58703319 | missense variant | A/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
0.882 | 0.080 | 17 | 58703319 | missense variant | A/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
0.882 | 0.080 | 17 | 58703319 | missense variant | A/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.200 | 17 | 58696858 | splice donor variant | G/- | delins | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||
|
0.925 | 0.200 | 17 | 58696858 | splice donor variant | G/- | delins | 4.0E-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 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.200 | 17 | 58696858 | splice donor variant | G/- | delins | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||
|
1.000 | 17 | 58703195 | splice acceptor variant | G/C;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 17 | 58703195 | splice acceptor variant | G/C;T | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 17 | 58703194 | splice acceptor variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||
|
1.000 | 17 | 58703194 | splice acceptor variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||
|
17 | 58709972 | frameshift variant | A/- | delins | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||||
|
1.000 | 17 | 58692691 | frameshift variant | T/- | delins |
|
0.700 | 0 | |||||||||||||
|
17 | 58694927 | splice acceptor variant | TCA/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
17 | 58694929 | splice acceptor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 |