| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.280 | 12 | 112450395 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 2 | 2009 | 2016 | |||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.710 | 1.000 | 6 | 1987 | 2016 | |||||||||
|
0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.740 | 1.000 | 9 | 1987 | 2017 | ||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 7 | 1987 | 2016 | |||||||||
|
1.000 | 0.040 | 12 | 11839202 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 12 | 11890994 | protein altering variant | -/GGG | ins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 5 | 1282578 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 3 | 128481270 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.882 | 0.080 | 3 | 128481901 | missense variant | G/A | snv |
|
0.720 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
1.000 | 0.040 | 5 | 171410539 | frameshift variant | -/TCTG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 5 | 171410540 | frameshift variant | -/CCTG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 5 | 171410541 | frameshift variant | -/CATG;CGTG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 5 | 171410542 | frameshift variant | -/CATG;CCTG;TCAG;TCTG | ins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 5 | 171410549 | frameshift variant | GGAGGAA/CCCTGGCTAGG | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 5 | 177210250 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 5 | 177244271 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 5 | 177269630 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 5 | 177282537 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 5 | 177515944 | stop gained | -/CATC | delins | 8.7E-05 | 7.0E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 2 | 197402108 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 2 | 197402109 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 |