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 | 0.040 | 11 | 32396363 | frameshift variant | -/ACCGTACA | ins |
|
0.700 | 1.000 | 6 | 2014 | 2014 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | < 0.001 | 2 | 2012 | 2016 | |||||||||
|
1.000 | 0.040 | 5 | 171410542 | frameshift variant | -/CATG;CCTG;TCAG;TCTG | ins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 19 | 33302197 | frameshift variant | -/G | ins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 12 | 11890994 | protein altering variant | -/GGG | ins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 4 | 54733154 | missense variant | GA/AT | mnv |
|
0.700 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | < 0.001 | 2 | 2012 | 2016 | |||||||||
|
1.000 | 0.040 | 13 | 28018504 | missense variant | TC/AA | mnv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 13 | 28018503 | inframe deletion | ATC/- | del |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 19 | 33302225 | frameshift variant | TGTCG/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 9 | 113424228 | frameshift variant | -/G | delins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 13 | 28018498 | inframe deletion | GAT/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 2 | 37222420 | frameshift variant | T/- | delins | 4.2E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 19 | 33302347 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302274 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302213 | frameshift variant | -/TAGG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302095 | frameshift variant | -/CA | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 5 | 171410541 | frameshift variant | -/CATG;CGTG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 5 | 171410540 | frameshift variant | -/CCTG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33301423 | inframe insertion | -/TTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33301463 | inframe insertion | -/GCTCCAGCACCTTCTGCTGCGTCTCCA | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302076 | frameshift variant | GGGCGCGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302295 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 5 | 171410549 | frameshift variant | GGAGGAA/CCCTGGCTAGG | delins |
|
0.700 | 0 |