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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.240 | 3 | 30674231 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
2 | 55785079 | intergenic variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
5 | 65059233 | intergenic variant | T/A | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 32437261 | intron variant | G/T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
8 | 25849896 | intron variant | A/G | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 0.120 | 15 | 48534099 | frameshift variant | CATT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 13 | 38691375 | missense variant | G/A;T | snv | 3.5E-03 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 9 | 134701287 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 4 | 55359444 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 4 | 78511299 | missense variant | G/A | snv | 5.2E-03 | 5.8E-03 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 17 | 31352281 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 3 | 179586552 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.480 | 22 | 23833670 | inframe deletion | AGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.320 | 1 | 27549887 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 10 | 110593202 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
X | 133026484 | missense variant | C/T | snv | 4.5E-03 | 3.2E-03 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
X | 133027131 | missense variant | G/A;T | snv | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |