| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 16 | 30089130 | missense variant | G/A | snv | 2.2E-04 | 1.0E-04 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.040 | 16 | 3728803 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 17 | 44911317 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | X | 136016706 | frameshift variant | GT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.080 | 17 | 10642825 | splice donor variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.080 | 17 | 10643215 | intron variant | CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 38469119 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.120 | 2 | 240785063 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 12 | 47984112 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 17 | 10633590 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 17 | 10654924 | stop gained | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 16 | 81357848 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 10 | 87960913 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 19 | 40504064 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | 18 | 52923796 | frameshift variant | TTTCTGG/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.160 | 8 | 143817668 | frameshift variant | -/TTTT | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 10 | 87952144 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 9 | 93447639 | missense variant | G/A | snv | 6.8E-05 | 2.2E-04 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 12 | 80717084 | frameshift variant | AGTTCTCACC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 19 | 46746071 | 5 prime UTR variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 12 | 80717346 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.160 | 17 | 10656089 | splice donor variant | C/T | snv | 1.2E-03 |
|
0.700 | 0 |