| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.160 | 1 | 155240629 | splice donor variant | C/A;T | snv | 7.6E-05 |
|
0.700 | 1.000 | 5 | 1992 | 2014 | ||||||||
|
0.807 | 0.120 | 1 | 155238192 | missense variant | A/G | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.360 | 1 | 155235727 | missense variant | C/G | snv | 1.3E-04 | 2.0E-04 |
|
0.800 | 1.000 | 7 | 1990 | 2010 | |||||||
|
0.925 | 0.120 | 1 | 155239934 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 |
|
0.800 | 1.000 | 0 | 2008 | 2009 | |||||||
|
1.000 | 0.120 | 1 | 155238519 | missense variant | T/G | snv |
|
0.800 | 1.000 | 0 | 1990 | 2009 | |||||||||
|
1.000 | 0.120 | 1 | 155237357 | missense variant | G/A | snv |
|
0.800 | 1.000 | 0 | 1990 | 2009 | |||||||||
|
1.000 | 0.120 | 1 | 155238624 | missense variant | G/A | snv |
|
0.800 | 1.000 | 0 | 1990 | 2009 | |||||||||
|
1.000 | 0.120 | 1 | 155238144 | missense variant | A/G | snv | 4.0E-06 |
|
0.800 | 1.000 | 0 | 1990 | 2009 | ||||||||
|
1.000 | 0.120 | 1 | 155235057 | missense variant | C/T | snv |
|
0.800 | 1.000 | 0 | 1990 | 2009 | |||||||||
|
1.000 | 0.120 | 1 | 155240033 | missense variant | C/A | snv |
|
0.800 | 1.000 | 0 | 1990 | 2009 | |||||||||
|
1.000 | 0.120 | 1 | 155237577 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 155236416 | missense variant | C/A | snv |
|
0.800 | 1.000 | 0 | 1990 | 2009 | |||||||||
|
1.000 | 0.120 | 1 | 155236261 | missense variant | C/G | snv | 4.0E-06 |
|
0.800 | 1.000 | 0 | 1990 | 2009 | ||||||||
|
0.827 | 0.120 | 1 | 155235823 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 |
|
0.800 | 1.000 | 0 | 1990 | 2009 | |||||||
|
0.925 | 0.120 | 1 | 155239716 | missense variant | C/G | snv |
|
0.800 | 1.000 | 0 | 1990 | 2009 | |||||||||
|
1.000 | 0.120 | 1 | 155235841 | missense variant | G/C | snv |
|
0.810 | 1.000 | 0 | 1990 | 2009 | |||||||||
|
1.000 | 0.120 | 1 | 155238579 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.807 | 0.120 | 1 | 155238215 | missense variant | T/C | snv | 7.2E-05 | 1.0E-04 |
|
0.810 | 1.000 | 0 | 1990 | 2006 | |||||||
|
1.000 | 0.120 | 1 | 155235205 | missense variant | C/G;T | snv | 5.2E-05; 4.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 1 | 155238214 | missense variant | A/C | snv | 1.2E-05 | 2.8E-05 |
|
0.800 | 0 | ||||||||||
|
0.851 | 0.120 | 1 | 155238141 | missense variant | A/C;T | snv | 4.0E-06; 4.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 1 | 155240660 | frameshift variant | -/C | delins | 5.2E-05 | 5.6E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 1 | 155240672 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 1 | 155236298 | missense variant | C/G | snv |
|
0.800 | 0 | ||||||||||||
|
0.851 | 0.120 | 1 | 155238597 | missense variant | G/A | snv | 4.0E-06 |
|
0.800 | 0 |