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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 7 | 100101774 | splice donor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 13 | 100102911 | frameshift variant | TA/- | del |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 13 | 100102956 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 13 | 100102962 | splice donor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
7 | 100105098 | missense variant | G/A | snv |
|
0.700 | 1.000 | 11 | 2009 | 2015 | |||||||||||
|
1.000 | 0.080 | 7 | 100105314 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 100105450 | frameshift variant | TG/- | delins | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 7 | 100105526 | stop gained | C/G;T | snv | 4.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 7 | 100105981 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 7 | 100105981 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 7 | 100105981 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 7 | 100105981 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 7 | 100105981 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 7 | 100105981 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 100106278 | stop gained | C/G;T | snv | 4.0E-06; 4.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 100106745 | missense variant | T/C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 1 | 100107513 | frameshift variant | -/T | delins | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2011 | 2014 | |||||||||
|
1.000 | 0.080 | 13 | 100111840 | splice acceptor variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 13 | 100111886 | missense variant | C/T | snv | 2.0E-05 | 5.6E-05 |
|
0.800 | 1.000 | 7 | 1999 | 2014 | |||||||
|
1.000 | 0.080 | 13 | 100111889 | splice donor variant | G/C | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 4 | 2006 | 2015 | |||||||
|
1.000 | 0.080 | 13 | 100112045 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 7 | 100113899 | missense variant | A/G;T | snv | 3.2E-05 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 7 | 100113899 | missense variant | A/G;T | snv | 3.2E-05 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 7 | 100113899 | missense variant | A/G;T | snv | 3.2E-05 |
|
0.800 | 1.000 | 0 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 7 | 100114074 | missense variant | G/A | snv |
|
0.700 | 0 |