| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 5 | 112835093 | stop gained | T/A;C;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 5 | 112839999 | stop gained | C/G;T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 5 | 112780782 | splice region variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 5 | 112821953 | stop gained | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 5 | 112819276 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 5 | 112835163 | splice region variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 5 | 112827106 | splice acceptor variant | A/C;G;T | snv |
|
0.700 | 1.000 | 3 | 2004 | 2017 | |||||||||
|
1.000 | 0.120 | 5 | 112839048 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 5 | 112815548 | frameshift variant | ACAC/-;AC | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 5 | 112835166 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 5 | 112828885 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 5 | 112838394 | frameshift variant | TTAC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 5 | 112767213 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.200 | 5 | 112828939 | synonymous variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.200 | 5 | 112839515 | frameshift variant | AAAGA/- | delins |
|
0.710 | 1.000 | 13 | 1992 | 2018 | |||||||||
|
0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 5 | 112839942 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 5 | 112838220 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 5 | 112838544 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 5 | 112843551 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 5 | 112827976 | synonymous variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 5 | 112819272 | missense variant | C/A;G;T | snv | 4.0E-06; 6.7E-04 |
|
0.700 | 1.000 | 20 | 1991 | 2017 | ||||||||
|
0.882 | 0.120 | 5 | 112815564 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 5 | 112815499 | stop gained | C/G;T | snv |
|
0.700 | 0 |