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 | 0.240 | 12 | 21913005 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.120 | 2 | 142918608 | splice acceptor variant | G/T | snv | 1.4E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.360 | 17 | 67894102 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.160 | 18 | 22171856 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.776 | 0.280 | 13 | 32380040 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.701 | 0.240 | 16 | 2176350 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.360 | 17 | 46171276 | stop gained | G/A | snv | 5.2E-05 | 5.6E-05 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.320 | 8 | 60849154 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.120 | 1 | 26697152 | frameshift variant | -/GCCGCCTCCCTCCTCCAGCGCC | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.320 | 8 | 60781285 | frameshift variant | AA/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | 11 | 61783599 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 70874437 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.240 | 22 | 18078405 | frameshift variant | C/-;CC | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 13 | 38784727 | inframe deletion | TCT/- | delins | 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 3 | 25580574 | missense variant | T/C | snv |
|
0.700 | 0 |