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 | 0.080 | 12 | 132869741 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
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 | ||||||||||||
|
0.807 | 0.120 | 9 | 21971018 | missense variant | G/A;T | 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 | ||||||||||||
|
0.925 | 0.160 | 9 | 21971063 | missense variant | C/A;G;T | snv | 4.3E-06; 8.5E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 9 | 21970958 | missense variant | G/A | snv | 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 11 | 35231725 | 3 prime UTR variant | C/A;T | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.080 | 21 | 36074727 | intron variant | T/C | snv | 0.63 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 |
|
0.010 | < 0.001 | 1 | 2020 | 2020 | ||||||||
|
0.790 | 0.160 | 5 | 308981 | non coding transcript exon variant | A/C;T | snv |
|
0.010 | < 0.001 | 1 | 2012 | 2012 |