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 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 1 | 2002 | 2019 | ||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.800 | 0.983 | 1 | 2004 | 2020 | |||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.720 | 1.000 | 1 | 2002 | 2019 | ||||||||
|
0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2002 | 2015 | |||||||||
|
1.000 | 0.080 | 19 | 1220495 | missense variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2002 | 2002 |