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 | 0.080 | 3 | 52405897 | stop gained | G/A | snv |
|
Neoplasms; Eye Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 3 | 52409597 | frameshift variant | CC/-;CCC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins |
|
Neoplasms | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
3 | 52406826 | splice region variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 3 | 52407210 | stop gained | C/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 3 | 52406844 | frameshift variant | C/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 3 | 52403729 | frameshift variant | C/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 3 | 52408607 | splice acceptor variant | C/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 3 | 52409716 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||||
|
1.000 | 3 | 52403193 | frameshift variant | T/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 3 | 52408548 | stop gained | T/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 3 | 52408473 | splice donor variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||||
|
1.000 | 3 | 52408473 | splice donor variant | C/A;T | snv |
|
0.700 | 0 | |||||||||||||
|
0.851 | 0.080 | 3 | 52403251 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 3 | 52403786 | frameshift variant | TT/- | delins | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 3 | 52407235 | stop gained | A/C;G | snv | 1.6E-04 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 3 | 52402675 | splice acceptor variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 3 | 52403449 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||||
|
1.000 | 3 | 52403449 | frameshift variant | -/A | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 3 | 52403681 | frameshift variant | G/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 3 | 52403766 | stop gained | G/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 3 | 52404489 | stop gained | CGTCATCCTCAT/- | delins |
|
0.700 | 0 |