| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.160 | 12 | 89492071 | stop gained | C/A;G;T | snv | 8.5E-06; 2.7E-04 |
|
0.700 | 1.000 | 3 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 1 | 94051698 | missense variant | C/G;T | snv | 4.4E-03; 4.0E-06 |
|
0.700 | 1.000 | 2 | 1997 | 2019 | ||||||||
|
0.882 | 0.080 | X | 46853731 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.882 | 4 | 112427580 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 94007707 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
0.925 | 0.120 | 16 | 56506191 | stop gained | G/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.080 | 2 | 181558617 | stop gained | G/A;C | snv | 3.5E-04; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 4 | 15994028 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv |
|
0.710 | 1.000 | 1 | 2008 | 2010 | |||||||||
|
1.000 | 0.080 | 1 | 197427454 | missense variant | A/G;T | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 10 | 84203123 | splice region variant | G/A;C;T | snv | 2.9E-03; 4.0E-06 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 1 | 94005490 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 94042790 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1 | 94060712 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1.000 | 0.080 | 1 | 94063315 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1 | 197435404 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
6 | 42722069 | frameshift variant | GCTGGGTC/- | del |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
10 | 84258712 | 3 prime UTR variant | -/G | delins |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||||
|
11 | 61950428 | splice donor variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.925 | 0.080 | X | 46853725 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
1.000 | 0.040 | X | 49212756 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 8 | 54625333 | stop gained | C/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1 | 68448644 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
0.925 | 0.080 | 2 | 61839437 | stop gained | G/A;C;T | snv | 4.8E-05; 1.8E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
4 | 16023380 | stop gained | G/A;C | snv | 1.7E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 |