| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.700 | 1.000 | 15 | 1997 | 2017 | |||||||
|
0.882 | 0.120 | 5 | 112815564 | stop gained | C/T | snv |
|
0.700 | 1.000 | 12 | 1991 | 2013 | |||||||||
|
0.925 | 0.120 | 5 | 112838394 | frameshift variant | TTAC/- | delins |
|
0.700 | 1.000 | 11 | 1994 | 2017 | |||||||||
|
0.882 | 0.120 | 5 | 112838774 | frameshift variant | ACAAA/- | delins |
|
0.700 | 1.000 | 11 | 1992 | 2016 | |||||||||
|
0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv |
|
0.700 | 1.000 | 9 | 1992 | 2016 | |||||||||
|
0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv |
|
0.700 | 1.000 | 8 | 1992 | 2011 | |||||||||
|
0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv |
|
0.700 | 1.000 | 8 | 1993 | 2014 | |||||||||
|
0.925 | 0.120 | 5 | 112827247 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 8 | 1997 | 2016 | |||||||||
|
5 | 112838775 | frameshift variant | CAAA/- | delins |
|
0.700 | 1.000 | 7 | 1994 | 2008 | |||||||||||
|
0.742 | 0.200 | 5 | 112839515 | frameshift variant | AAAGA/- | delins |
|
0.700 | 1.000 | 7 | 1992 | 2015 | |||||||||
|
0.925 | 0.120 | 5 | 112839942 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 7 | 1993 | 2016 | ||||||||
|
0.882 | 0.120 | 5 | 112838220 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 7 | 2000 | 2016 | |||||||||
|
0.827 | 0.120 | 5 | 112839979 | frameshift variant | AGAG/-;AG | delins |
|
0.700 | 1.000 | 7 | 1997 | 2010 | |||||||||
|
0.925 | 0.120 | 5 | 112838793 | frameshift variant | TCAA/- | delins |
|
0.700 | 1.000 | 7 | 1993 | 2011 | |||||||||
|
1.000 | 0.120 | 5 | 112839062 | frameshift variant | GAGA/-;GA;GAGAGA | delins |
|
0.700 | 1.000 | 7 | 1999 | 2016 | |||||||||
|
1.000 | 0.120 | 5 | 112835165 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 6 | 2008 | 2015 | |||||||||
|
0.925 | 0.120 | 5 | 112835166 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 6 | 2001 | 2010 | |||||||||
|
0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 |
|
0.700 | 1.000 | 6 | 1997 | 2015 | ||||||||
|
0.827 | 0.120 | 5 | 112827194 | stop gained | C/G;T | snv | 2.8E-05 |
|
0.700 | 1.000 | 6 | 1993 | 2011 | ||||||||
|
1.000 | 0.120 | 5 | 112775711 | frameshift variant | ATAG/- | delins |
|
0.700 | 1.000 | 6 | 1992 | 2011 | |||||||||
|
0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 6 | 1992 | 2016 | |||||||||
|
0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 6 | 1994 | 2016 | ||||||||
|
1.000 | 0.120 | 5 | 112839516 | frameshift variant | GAAA/- | delins |
|
0.700 | 1.000 | 6 | 1994 | 2016 | |||||||||
|
5 | 112839342 | frameshift variant | AA/- | delins |
|
0.700 | 1.000 | 5 | 1992 | 2005 | |||||||||||
|
0.882 | 0.120 | 5 | 112828001 | stop gained | C/T | snv |
|
0.700 | 1.000 | 5 | 1992 | 2005 |