Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 13 | 76992176 | stop gained | G/A;T | snv | 2.7E-05; 3.1E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 13 | 76995077 | missense variant | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 15 | 68214373 | stop gained | C/A;G;T | snv | 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 16 | 28477875 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6618823 | missense variant | A/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 11 | 6616696 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 16 | 28482500 | stop gained | C/A;T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 15 | 68211698 | inframe deletion | ATG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 6615542 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 6615442 | missense variant | C/G | snv | 2.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.120 | 1 | 40091398 | missense variant | T/A | snv | 7.0E-04 | 6.0E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 4 | 127930800 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 8 | 1771553 | stop gained | G/C;T | snv | 8.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 15 | 68218584 | stop gained | G/C | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 6618820 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76992207 | frameshift variant | -/ATCCGGGCTGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76995075 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 16 | 28485965 | splice donor variant | ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- | del | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 11 | 6617621 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6617769 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 13 | 77000580 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 1 | 40092462 | frameshift variant | -/T | delins | 3.2E-05; 4.0E-06; 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 1 | 40089409 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 16 | 28486455 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 16 | 28486401 | frameshift variant | -/A | delins | 1.2E-05 | 7.0E-06 | 0.700 | 0 |