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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.160 | 19 | 13303877 | missense variant | G/A | snv |
|
0.800 | 1.000 | 22 | 1996 | 2017 | |||||||||
|
0.790 | 0.160 | 19 | 13277122 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.120 | 19 | 13365448 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 19 | 13298768 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.200 | 19 | 13371683 | splice region variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.160 | 19 | 13303584 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 19 | 13235693 | missense variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2006 | 2017 | |||||||||
|
0.851 | 0.160 | 19 | 13255217 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.851 | 0.160 | 19 | 13261526 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 19 | 13359707 | missense variant | C/T | snv |
|
0.800 | 1.000 | 15 | 1996 | 2011 | |||||||||
|
0.882 | 0.200 | 19 | 13235702 | missense variant | C/T | snv |
|
0.800 | 1.000 | 15 | 1996 | 2011 | |||||||||
|
0.882 | 0.160 | 19 | 13235219 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.882 | 0.160 | 19 | 13359680 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 19 | 13231847 | missense variant | C/T | snv |
|
0.810 | 1.000 | 15 | 1996 | 2011 | |||||||||
|
0.925 | 0.160 | 19 | 13359724 | missense variant | C/T | snv |
|
0.800 | 1.000 | 15 | 1996 | 2011 | |||||||||
|
0.925 | 0.120 | 19 | 13245181 | splice donor variant | C/A | snv |
|
0.700 | 1.000 | 5 | 1999 | 2016 | |||||||||
|
0.925 | 0.120 | 19 | 13262790 | stop gained | G/A | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 19 | 13231850 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 19 | 13228767 | stop gained | GT/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 19 | 13335805 | splice donor variant | C/T | snv | 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 19 | 13257514 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 13298704 | frameshift variant | GCTCCGCCTTGTCCTCCGGACCCTCC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 13298878 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 13299314 | frameshift variant | CAC/GT | delins |
|
0.700 | 0 |