| 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 | 0.120 | 9 | 72789306 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 13 | 20188976 | stop gained | -/AAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTC | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.200 | 4 | 87615910 | frameshift variant | -/C | ins |
|
0.700 | 0 | ||||||||||||
|
17 | 74919981 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.120 | 11 | 72107947 | frameshift variant | -/CTCG | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 107710069 | frameshift variant | -/GCTGG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 107700115 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 11 | 121118355 | frameshift variant | -/T | ins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 10 | 71791147 | frameshift variant | -/TCAG | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.320 | 2 | 171443559 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.120 | 7 | 107694478 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 2 | 73448259 | frameshift variant | A/- | del | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.280 | 13 | 20189415 | frameshift variant | A/- | del | 8.9E-04 | 5.8E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 7 | 107700155 | frameshift variant | A/-;AA | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 107698076 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 10 | 71777711 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.200 | 13 | 20189481 | missense variant | A/C;G | snv | 8.7E-03 |
|
0.740 | 0.833 | 2 | 2001 | 2012 | ||||||||
|
0.925 | 0.160 | 7 | 107690236 | missense variant | A/C;G | snv | 8.0E-06; 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 10 | 71778268 | missense variant | A/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 13 | 20189523 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 7 | 107683453 | splice acceptor variant | A/G | snv | 3.6E-04 | 1.7E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.160 | X | 19353124 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 2 | 26460027 | stop lost | A/G | snv |
|
0.700 | 0 |