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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 5 | 132489448 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.440 | 3 | 179234286 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.360 | 7 | 140753393 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 17 | 39724733 | inframe insertion | -/TCCGTGATGGCT | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 7 | 140781601 | inframe deletion | TCC/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 17 | 39724728 | inframe insertion | -/ATACGTGATGGC | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 17 | 39724731 | inframe insertion | -/TACGTGATGGCT | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 17 | 39724738 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 12 | 25245346 | synonymous variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 55174769 | protein altering variant | CAAGGAATTAAGAGAAGC/AAA | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 7 | 55174777 | inframe deletion | TAAGAGAAG/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 7 | 55181319 | inframe insertion | -/GGGTTG | ins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 179210293 | inframe deletion | AGATTTGCTGAACCC/- | del |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | 3 | 179234230 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 12 | 25227234 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.800 | 0.983 | 1 | 2004 | 2020 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.800 | 0.983 | 1 | 2004 | 2020 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.800 | 0.983 | 1 | 2004 | 2020 | |||||||||
|
0.827 | 0.120 | 7 | 55174015 | missense variant | G/A;C | snv |
|
0.740 | 1.000 | 17 | 1990 | 2019 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.790 | 1.000 | 17 | 2002 | 2019 | ||||||||
|
0.807 | 0.120 | 7 | 55174014 | missense variant | G/A;C;T | snv |
|
0.750 | 1.000 | 16 | 2004 | 2019 | |||||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 12 | 2004 | 2014 | |||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 11 | 2004 | 2012 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 11 | 2004 | 2012 |