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 | 58696702 | missense variant | G/C | snv | 4.0E-06 | 1.4E-05 |
|
0.800 | 1.000 | 6 | 2010 | 2014 | ||||||||
|
0.882 | 0.120 | 17 | 58709926 | missense variant | G/A | snv | 4.4E-05; 1.6E-05 | 2.1E-05 |
|
0.800 | 1.000 | 4 | 2010 | 2015 | |||||||
|
1.000 | 17 | 58695159 | missense variant | G/T | snv |
|
0.800 | 1.000 | 3 | 2010 | 2014 | ||||||||||
|
0.925 | 17 | 58696702 | missense variant | G/C | snv | 4.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 11 | 2010 | 2017 | |||||||
|
0.882 | 0.120 | 17 | 58709857 | splice acceptor variant | A/C;G | snv | 2.0E-05 | 2.1E-05 |
|
0.700 | 1.000 | 11 | 2010 | 2016 | |||||||
|
0.882 | 0.200 | 17 | 58703201 | stop gained | C/T | snv | 4.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 2012 | 2017 | |||||||
|
0.925 | 17 | 58696702 | missense variant | G/C | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 8 | 2010 | 2016 | ||||||||
|
0.925 | 17 | 58732548 | inframe deletion | GTA/- | delins |
|
0.700 | 1.000 | 7 | 2003 | 2017 | ||||||||||
|
0.925 | 17 | 58724038 | splice acceptor variant | AG/- | del | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 7 | 2010 | 2016 | ||||||||
|
0.925 | 17 | 58720817 | splice region variant | G/T | snv | 1.6E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 7 | 2010 | 2015 | |||||||
|
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 | |||||||
|
0.882 | 0.120 | 17 | 58709857 | splice acceptor variant | A/C;G | snv | 2.0E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 2011 | 2016 | ||||||
|
0.925 | 17 | 58732548 | inframe deletion | GTA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 2012 | 2017 | |||||||||
|
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 | |||||||
|
0.882 | 0.200 | 17 | 58703201 | stop gained | C/T | snv | 4.0E-05 |
|
0.700 | 1.000 | 5 | 2012 | 2016 | ||||||||
|
0.882 | 0.200 | 17 | 58703201 | stop gained | C/T | snv | 4.0E-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 | 1.000 | 5 | 2012 | 2016 | |||||||
|
0.882 | 0.200 | 17 | 58695182 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2012 | 2017 | |||||||
|
0.925 | 17 | 58732548 | inframe deletion | GTA/- | delins |
|
0.700 | 1.000 | 5 | 2003 | 2016 | ||||||||||
|
0.882 | 0.200 | 17 | 58692733 | frameshift variant | G/- | delins | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2011 | 2016 | |||||||
|
0.882 | 0.120 | 17 | 58709926 | missense variant | G/A | snv | 4.4E-05; 1.6E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2010 | 2016 | ||||||
|
1.000 | 17 | 58734116 | splice acceptor variant | A/G | snv |
|
0.700 | 1.000 | 4 | 2010 | 2015 | ||||||||||
|
0.925 | 17 | 58724090 | stop gained | C/A;T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2012 | 2016 | |||||||
|
0.925 | 17 | 58695191 | splice donor variant | T/C | snv | 4.1E-06 | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2010 | 2016 | ||||||||
|
0.851 | 0.200 | 17 | 58695008 | stop gained | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2010 | 2016 | ||||||||
|
0.851 | 0.200 | 17 | 58695008 | stop gained | -/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 | 1.000 | 4 | 2010 | 2016 |