| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.080 | 2 | 181558617 | stop gained | G/A;C | snv | 3.5E-04; 4.0E-06 |
|
0.730 | 1.000 | 6 | 2004 | 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 | ||||||||
|
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 | 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 | ||||||||
|
0.882 | 0.200 | 1 | 215759735 | missense variant | C/A;T | snv | 4.0E-06; 5.6E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.882 | 0.080 | 3 | 129532261 | missense variant | G/A;C | snv | 8.0E-06 |
|
0.730 | 1.000 | 2 | 1991 | 2019 | ||||||||
|
0.882 | 0.080 | 3 | 129529049 | missense variant | G/A;T | snv | 1.6E-05 |
|
0.720 | 1.000 | 1 | 1999 | 2019 | ||||||||
|
0.807 | 0.160 | 3 | 129530917 | missense variant | C/T | snv |
|
0.730 | 1.000 | 1 | 2006 | 2019 | |||||||||
|
0.925 | 0.080 | 3 | 129532253 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.080 | 3 | 129532288 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.720 | 1.000 | 1 | 1993 | 2013 | ||||||||
|
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 | 0.080 | 14 | 67726086 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 14 | 67726983 | missense variant | C/A;G | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | X | 46853731 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.200 | 3 | 150972520 | stop gained | G/A;T | snv | 1.2E-05; 1.2E-05 |
|
0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.080 | 1 | 197421010 | stop gained | C/A;T | snv | 1.2E-05; 9.2E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 15 | 71811530 | missense variant | G/A;T | snv |
|
0.720 | 1.000 | 1 | 2009 | 2019 | |||||||||
|
0.925 | 0.080 | X | 46837115 | inframe deletion | TCC/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 4 | 15994028 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 16 | 28477620 | missense variant | G/A;C;T | snv | 7.2E-05; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 8 | 54626489 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2000 | 2000 |