| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 10 | 127409786 | intron variant | G/A | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 8 | 130909710 | splice region variant | A/G | snv | 0.64 | 0.58 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.120 | 16 | 17268972 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.120 | 15 | 30008518 | intron variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | X | 31147289 | stop gained | G/A;T | snv | 5.5E-06 |
|
0.700 | 1.000 | 3 | 1998 | 2011 | ||||||||
|
1.000 | 0.120 | X | 31147347 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | X | 31169486 | frameshift variant | CT/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | X | 31169543 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | X | 31169589 | frameshift variant | -/TT | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | X | 31172375 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | X | 31177956 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | X | 31177964 | splice acceptor variant | ACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCCA/- | delins |
|
0.700 | 1.000 | 2 | 2006 | 2014 | |||||||||
|
0.882 | 0.160 | X | 31178721 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | X | 31178751 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | X | 31178789 | inframe deletion | TCT/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | X | 31180369 | splice donor variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | X | 31180423 | stop gained | G/A | snv |
|
0.700 | 1.000 | 3 | 2000 | 2013 | |||||||||
|
1.000 | 0.120 | X | 31180482 | splice acceptor variant | C/T | snv |
|
0.700 | 1.000 | 4 | 2006 | 2017 | |||||||||
|
1.000 | 0.120 | X | 31182784 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | X | 31182822 | frameshift variant | GGGCAGCCAC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | X | 31182849 | frameshift variant | CATCCAGTCT/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | X | 31204113 | splice acceptor variant | TCTACAAAGG/- | delins |
|
0.700 | 0 |