| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.060 | 0.667 | 6 | 2007 | 2016 | |||||||||
|
0.827 | 0.160 | 9 | 104094409 | 5 prime UTR variant | -/GC | ins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.060 | 0.667 | 6 | 2007 | 2016 | |||||||||
|
0.925 | 0.080 | 17 | 13000197 | frameshift variant | T/- | del | 4.0E-06 |
|
0.020 | 0.500 | 2 | 2005 | 2008 | ||||||||
|
1.000 | 0.080 | 11 | 76549500 | intron variant | C/- | del | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.160 | 8 | 11853378 | frameshift variant | AG/- | del | 1.6E-04 | 1.5E-04 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.080 | 4 | 38774477 | frameshift variant | GCAGTTGGAT/- | del |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.030 | 1.000 | 3 | 2000 | 2006 | |||||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 21 | 31664502 | intron variant | AGA/- | delins | 0.13 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 7498191 | intron variant | -/AGTGTG;AGTGTGTG;AGTGTTGGTG;AGTGTTGGTGTG;AGTGTTGGTGTGTG;GGTG | delins |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.080 | 15 | 66472304 | intron variant | AA/-;A;AAA;AAAA | delins | 0.24 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 7 | 20374488 | intron variant | AAAAA/-;A;AAA;AAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 20 | 32759707 | upstream gene variant | AA/-;A;AAA;AAAA;AAAAA;AAAAAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 9 | 80614113 | intergenic variant | A/-;AA | delins | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 10 | 808752 | intron variant | ACACACACACACACAC/-;ACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 16 | 82145289 | downstream gene variant | AAAAAA/-;AAA;AAAA;AAAAA;AAAAAAA | delins | 0.45 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 153927425 | intron variant | TTT/-;T;TT;TTTT;TTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.776 | 0.240 | 17 | 34255979 | non coding transcript exon variant | AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC | delins | 0.33 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |