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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.280 | 12 | 101770496 | inframe deletion | GTG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 6 | 33441318 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 12 | 101770161 | missense variant | T/C;G | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
2 | 161419040 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 6 | 33440746 | frameshift variant | -/AGGA | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 9 | 127661133 | frameshift variant | A/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 12 | 13569964 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.320 | 16 | 16190246 | missense variant | C/T | snv | 8.4E-05 | 1.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.851 | 0.080 | 12 | 9079672 | missense variant | T/C | snv | 0.31 | 0.33 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 |
|
0.020 | 1.000 | 2 | 2003 | 2005 | |||||||
|
0.851 | 0.160 | 22 | 50626976 | missense variant | A/C | snv | 2.3E-04 | 2.8E-04 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.160 | 11 | 6393301 | missense variant | T/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.080 | 2 | 166002660 | missense variant | C/A;T | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
5 | 63961656 | missense variant | C/G;T | snv | 3.2E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
5 | 63961638 | missense variant | T/C | snv | 9.4E-03 | 9.3E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.827 | 0.200 | 5 | 63961061 | missense variant | C/A | snv | 3.7E-03 | 3.8E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |