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 | 58720744 | splice acceptor variant | A/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2010 | 2014 | |||||||||
|
0.925 | 17 | 58709927 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 3 | 2011 | 2015 | ||||||||||
|
0.925 | 17 | 58709927 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 3 | 2011 | 2015 | ||||||||||
|
1.000 | 17 | 58692789 | splice donor variant | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 1.000 | 3 | 2010 | 2014 | |||||||||
|
1.000 | 17 | 58692789 | splice donor variant | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2010 | 2015 | ||||||||
|
1.000 | 17 | 58692790 | splice donor variant | TAACGA/CTAAG | delins |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||||
|
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 | |||||||||
|
1.000 | 17 | 58732512 | stop gained | C/T | snv |
|
0.700 | 1.000 | 2 | 2003 | 2017 | ||||||||||
|
17 | 58732536 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
0.882 | 0.200 | 17 | 58695182 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.882 | 0.200 | 17 | 58695182 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 17 | 58696790 | stop gained | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
1.000 | 0.200 | 17 | 58724069 | missense variant | C/T | snv | 8.0E-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 | 2 | 2012 | 2017 | |||||||
|
1.000 | 17 | 58724037 | splice acceptor variant | CAGGG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
17 | 58696785 | frameshift variant | T/- | delins | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
1.000 | 17 | 58732523 | stop gained | C/A;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2002 | 2017 | ||||||||
|
0.827 | 0.200 | 17 | 58695189 | stop gained | G/A;C | snv | 4.1E-06 |
|
0.700 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
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 | |||||||||
|
1.000 | 17 | 58724038 | splice acceptor variant | A/C;G | snv | 1.2E-05 |
|
0.700 | 1.000 | 2 | 2013 | 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 | 0.080 | 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 |
|
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 |