| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 1 | 215671085 | missense variant | T/C;G | snv |
|
0.710 | 1.000 | 0 | 2007 | 2007 | |||||||||
|
0.851 | 0.080 | 2 | 61839695 | stop gained | T/A | snv | 2.8E-04 | 2.9E-04 |
|
0.700 | 1.000 | 6 | 2010 | 2019 | |||||||
|
0.925 | 0.080 | 6 | 64066349 | frameshift variant | A/- | del | 2.8E-05 |
|
0.700 | 1.000 | 5 | 2008 | 2019 | ||||||||
|
0.851 | 0.080 | 4 | 47937535 | missense variant | G/A;C | snv | 1.1E-03; 2.4E-05 |
|
0.700 | 1.000 | 4 | 1995 | 2019 | ||||||||
|
0.925 | 0.080 | 16 | 57962611 | splice acceptor variant | C/G;T | snv | 4.0E-06; 7.2E-05 |
|
0.700 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 57901371 | missense variant | T/A | snv | 1.1E-03 | 1.1E-03 |
|
0.700 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.925 | 0.080 | 4 | 664945 | splice donor variant | G/A;T | snv | 7.2E-05; 4.0E-06 |
|
0.700 | 1.000 | 3 | 1995 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 215674335 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.807 | 0.200 | 1 | 215728232 | stop gained | C/T | snv | 9.2E-05 | 1.2E-04 |
|
0.700 | 1.000 | 2 | 2004 | 2019 | |||||||
|
0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 |
|
0.700 | 1.000 | 2 | 2002 | 2019 | |||||||
|
0.925 | 0.080 | 5 | 149895206 | missense variant | G/T | snv | 1.2E-04 | 1.5E-04 |
|
0.700 | 1.000 | 2 | 1999 | 2010 | |||||||
|
0.925 | 0.080 | 5 | 149944370 | missense variant | G/A;T | snv | 2.4E-05; 1.7E-04 |
|
0.700 | 1.000 | 2 | 1999 | 2015 | ||||||||
|
0.925 | 0.080 | X | 38286615 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 2 | 2000 | 2002 | |||||||||
|
1.000 | 0.080 | 4 | 656295 | splice region variant | A/G;T | snv | 3.6E-05 |
|
0.700 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.851 | 0.200 | 1 | 216325524 | frameshift variant | -/GCTG | delins | 4.0E-06; 5.6E-05 | 5.6E-05 |
|
0.700 | 1.000 | 2 | 2000 | 2019 | |||||||
|
0.925 | 0.080 | 9 | 32541968 | frameshift variant | CTCT/-;CT | delins | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2007 | 2019 | ||||||||
|
0.882 | 0.200 | 1 | 215759735 | missense variant | C/A;T | snv | 4.0E-06; 5.6E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.925 | 0.080 | 4 | 625925 | missense variant | G/A | snv | 6.0E-05 | 2.8E-05 |
|
0.700 | 1.000 | 2 | 2012 | 2015 | |||||||
|
0.827 | 0.080 | 1 | 94063250 | missense variant | A/G | snv | 1.5E-04 | 1.7E-04 |
|
0.700 | 1.000 | 2 | 1998 | 2019 | |||||||
|
0.882 | 0.200 | 1 | 215675337 | missense variant | G/A | snv | 3.2E-05 | 3.5E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | |||||||
|
0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 |
|
0.700 | 1.000 | 2 | 1998 | 2019 | |||||||
|
0.925 | 0.080 | 3 | 129532253 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.080 | 3 | 129531005 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.080 | 6 | 42178374 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.882 | 0.160 | 10 | 13283695 | missense variant | G/A | snv | 1.9E-04 | 7.0E-05 |
|
0.700 | 1.000 | 1 | 1997 | 1997 |