| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 13792120 | frameshift variant | -/G | ins |
|
0.700 | 0 | ||||||||||||||
|
5 | 13876701 | frameshift variant | -/CA | ins |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.160 | 17 | 80089876 | frameshift variant | -/CTGT;TGT | ins | 3.6E-05 |
|
0.700 | 0 | |||||||||||
|
5 | 13829618 | frameshift variant | -/A | ins | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 80039966 | frameshift variant | C/- | del | 4.4E-04 | 2.9E-04 |
|
0.700 | 1.000 | 6 | 2011 | 2016 | |||||||
|
1.000 | 0.160 | 5 | 13753290 | frameshift variant | A/- | del | 1.6E-04 | 2.1E-04 |
|
0.700 | 1.000 | 4 | 2006 | 2014 | |||||||
|
3 | 180616697 | splice acceptor variant | T/- | del |
|
0.700 | 1.000 | 2 | 2011 | 2013 | |||||||||||
|
5 | 13899532 | splice donor variant | AAAAACTATCTTGTACTTAAATGGGAACTACTGATTCCCTCCTGCTGCTCCAAATACACTAGTTTCGGTTTTCGCCATCTCCATAACTTGAACTTACAGTCAGGGCCCCTGCATGGTATTGTGCAAGTTATGAAGAATGCAACCTACACAGCATTCTACGGCACCCCTGCTTTAATTCATGGAACTGCTCACACCAAAACCACAGGTATTATTCCTGAGTTCTCTTATAACCTGACTGTTGACATAACTCTAAATTCTCCAAACAACTCTGCTGCCATCCCAGTTCAAGCTCTCATCTTCATCCTGGGCCAGTGCAACACTTCACAAACAGGCTTCCCGCTGATACCCCTCGTCCCTCTTAACATCCATTTTCCACCCAGCAGTAAGAATAACTTTTATTATAAAAAGAGATCGTGCCTTTTTCAGTGGCTCGAAATCCTCCAATGGTTTCCTGGTACACTCAAAATAAAACCCAAGCTTCTCATCTTGGCCTGCAAGACCTGTAACGGCCTGGCCCCAGCCAACTCTGCAGCTGCACCCCATGGCACTGTCCCCTCAGTCACTCCATTCATCCTGGCCACTTTCTGCTCCTTGAATATGACACATCACCATATTTTTTTATAATACATTCCAGAGCTAGCCAAGAATGGGGGGAAAAAATAAAAGTAGTATACCTTCATGTTA/- | del |
|
0.700 | 1.000 | 2 | 2002 | 2006 | |||||||||||
|
1.000 | 0.160 | 5 | 13791995 | frameshift variant | TTTGGTTC/- | del | 2.0E-05 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2002 | 2006 | |||||||
|
5 | 13769584 | frameshift variant | C/- | del | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
5 | 13919319 | frameshift variant | C/- | del | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||||
|
9 | 34485216 | frameshift variant | T/- | del | 4.0E-06 |
|
0.700 | 0 | |||||||||||||
|
19 | 55162240 | frameshift variant | GCGGGCGCAGC/- | del |
|
0.700 | 0 | ||||||||||||||
|
3 | 180651409 | frameshift variant | C/- | del | 5.9E-06 |
|
0.700 | 0 | |||||||||||||
|
3 | 180642111 | frameshift variant | C/- | del | 4.0E-06 |
|
0.700 | 0 | |||||||||||||
|
17 | 80097352 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||||
|
5 | 13829611 | frameshift variant | T/- | del | 4.0E-06 |
|
0.700 | 0 | |||||||||||||
|
3 | 180648285 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||||
|
3 | 180660635 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||||
|
5 | 13865866 | frameshift variant | G/- | del |
|
0.700 | 0 | ||||||||||||||
|
7 | 727209 | splice donor variant | CCTGGACGAC/- | del |
|
0.700 | 0 | ||||||||||||||
|
7 | 21884369 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||||
|
16 | 84176171 | frameshift variant | T/- | del |
|
0.700 | 0 | ||||||||||||||
|
3 | 180652246 | frameshift variant | AGTGGCT/- | del |
|
0.700 | 0 | ||||||||||||||
|
5 | 13780916 | frameshift variant | A/- | del |
|
0.700 | 0 |