| 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 | 0.200 | 3 | 121790166 | stop gained | C/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.200 | 3 | 121808978 | frameshift variant | AA/- | delins | 1.0E-04 | 1.4E-04 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.040 | 3 | 121828473 | stop gained | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 3 | 121828519 | stop gained | G/A;C | snv | 3.6E-05; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 6 | 135442577 | splice region variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 5 | 149884474 | splice region variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 5 | 178986393 | stop gained | G/A | snv | 1.5E-04 | 1.2E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 1 | 197328961 | frameshift variant | ATAGGAA/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 1 | 197421404 | stop gained | C/T | snv | 3.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 1 | 197427543 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 1 | 197427555 | stop gained | C/A;G;T | snv | 5.6E-04; 8.0E-06; 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 1 | 197427880 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.040 | 1 | 197429614 | missense variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.080 | 1 | 197434706 | missense variant | G/A | snv | 2.1E-04 | 2.2E-04 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.080 | 1 | 197435170 | missense variant | G/A | snv | 2.8E-05 | 3.5E-05 |
|
0.710 | 1.000 | 0 | 2006 | 2006 | |||||||
|
0.882 | 0.080 | 1 | 197477775 | frameshift variant | CAACTCAGGG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 1 | 211481119 | splice donor variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 14 | 21294785 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 14 | 21302561 | synonymous variant | A/G | snv | 4.8E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.040 | 14 | 21312458 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 14 | 21312468 | frameshift variant | A/- | delins | 3.5E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 14 | 21325903 | stop gained | C/A;T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 14 | 21325943 | missense variant | G/A;T | snv | 6.0E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 14 | 21327687 | stop gained | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 14 | 21328469 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 0 |