| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 43197027 | splice region variant | -/A | delins | 4.0E-06; 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.080 | 4 | 16006637 | frameshift variant | -/A | delins | 2.2E-04 | 2.1E-04 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 197344433 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||||
|
14 | 21326071 | frameshift variant | -/A | ins |
|
0.700 | 0 | ||||||||||||||
|
1 | 94060712 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
10 | 84196622 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||||
|
14 | 88431196 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||||
|
6 | 63720752 | frameshift variant | -/CC | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 73449482 | frameshift variant | -/CTATTCTGGACTG | ins |
|
0.700 | 0 | ||||||||||||||
|
1 | 197421440 | frameshift variant | -/CTTA | ins |
|
0.700 | 0 | ||||||||||||||
|
1 | 197435404 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
10 | 84258712 | 3 prime UTR variant | -/G | delins |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||||
|
9 | 2717843 | frameshift variant | -/GTTCCGGCTCCCAGGCCAGCATCCACGGCTGGACAGAGGGCAACTATAACTACTACATCGAGGAAGACGAAGACGGCGAGGAGGAGGACCAGTGGAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAGGTCACCACCGCCAAGCCCGAGGGCCCCAGCGACCCTCCGGCCCTGCTGTCC | delins |
|
0.700 | 0 | ||||||||||||||
|
3 | 101320304 | frameshift variant | -/T | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 21 | 44339161 | frameshift variant | -/TGCACGCTGTGCAGCT | ins | 4.4E-05; 2.2E-05 | 7.7E-05 |
|
0.700 | 0 | ||||||||||
|
3 | 121770503 | frameshift variant | -/TGCCACA | delins | 2.4E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 14 | 21326029 | frameshift variant | -/TT | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 8 | 99511424 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
19 | 54122531 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||||
|
0.925 | 0.200 | 1 | 216321969 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 6 | 63864319 | stop gained | A/C | snv | 1.9E-05 | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
6 | 42178410 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||||
|
0.807 | 0.160 | 15 | 71811481 | splice acceptor variant | A/C | snv | 5.3E-04 | 5.1E-04 |
|
0.700 | 0 | ||||||||||
|
1 | 197421540 | missense variant | A/C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 94005490 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 |