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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 21 | 45509554 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 8 | 99511424 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
2 | 169236027 | missense variant | C/A;G;T | snv | 8.0E-06; 3.6E-05 |
|
0.700 | 0 | |||||||||||||
|
3 | 121790208 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||||
|
4 | 16018318 | splice region variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1 | 94098850 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 17 | 80212128 | missense variant | A/G | snv | 9.6E-05 | 1.5E-04 |
|
0.700 | 0 | ||||||||||
|
6 | 63762538 | missense variant | C/T | snv | 2.1E-05 |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 6 | 65402507 | stop gained | A/T | snv | 6.8E-04 | 6.2E-04 |
|
0.700 | 0 | ||||||||||
|
1 | 94047024 | missense variant | A/G | snv | 4.0E-05 | 8.4E-05 |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 94077747 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1 | 197328605 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
2 | 73449482 | frameshift variant | -/CTATTCTGGACTG | ins |
|
0.700 | 0 | ||||||||||||||
|
2 | 181544799 | splice region variant | G/C | snv |
|
0.700 | 0 | ||||||||||||||
|
3 | 121788283 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
6 | 42178410 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||||
|
6 | 64886713 | stop gained | A/T | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.080 | 6 | 42704529 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
9 | 2717843 | frameshift variant | -/GTTCCGGCTCCCAGGCCAGCATCCACGGCTGGACAGAGGGCAACTATAACTACTACATCGAGGAAGACGAAGACGGCGAGGAGGAGGACCAGTGGAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAGGTCACCACCGCCAAGCCCGAGGGCCCCAGCGACCCTCCGGCCCTGCTGTCC | delins |
|
0.700 | 0 | ||||||||||||||
|
10 | 84211128 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||||
|
11 | 67458613 | splice acceptor variant | TGCCCTTCTCTCCCGCAGAGTTTGTGATGATGCTCTCCCGCCACTGAGGCTCCAGGAGGGAATATCTGTTGCCCCTGCGGCCCCAGACACCAGCCAGACCCAGGCTGCAGGCCTCCCCCAGGAGCCTCCAGGATGGAGATGGAGACCCAGCAGCCCCCAGACTACTTCTATCCCTGAAAACACCTGGCCTCAATGTTGGCTTGTTATGTTACCTGCCCACCCTCATCCTTACCTCCTCCTACTCAAGCTGCCTGGAGAAGACCTGCTCTCAGCTGCCCACCGTTCCTCAGTGTGAGCAAGATTTGGGTCTCTCCAGACCTCTGGGAGGTAGGGAGTTCCCTGGCACTGGCAGCATTCAGTGGGGACCCCCCAGTGGCATGATGAATGGAGAGGATGGCTGGACCCCTTCCACTACTTATGTTTATAATTTTTTTTTTTTTTAATGAACTTGAGCCGGGTGCAGTGGCTCACACCTGTAAGCCCAGCTGTCAGGGGGCAGAAGCGGGAGGATAGCTTGAGCCCAGGAGTGCAAGACCTGCCTGGGCAATATACTGAGACCCCATTCTCCACAAAAAGGAAAAATAAAAGACAAAAAAACAAACAAAAAACCAAAAAACCCAAGTGTAAAAAAAGTGAGCTTGAAAGAAAGAAAGGGATGGCTCCATGTATCAAAGACAAAGAAATCAAAGCTGGGGTTGTAAGAGGGAGCTGACGCTGTGGGGGTTTCAGATCTGGATGGAGGCTTGGCCGCCTGGACTCCTACAACCATGAGTGACAGAAGAACCATATGAGTCTGGGGAGCAAGAAACAAACCCCCCGGATATATTCCAGGGTCTCCAAAG/- | del |
|
0.700 | 0 |