| 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 | 19 | 33302200 | frameshift variant | -/CCGG | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 5 | 177244271 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 5 | 177282537 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 12 | 25245355 | inframe insertion | -/CCA | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 12 | 25225709 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 2 | 25247685 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 5 | 177515944 | stop gained | -/CATC | delins | 8.7E-05 | 7.0E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.240 | 5 | 34937431 | stop gained | C/T | snv | 2.8E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 2 | 25235779 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 5 | 177269630 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 5 | 1282578 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.740 | 1.000 | 13 | 1987 | 2017 | ||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.710 | 1.000 | 7 | 1987 | 2016 | |||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 7 | 1987 | 2016 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 6 | 1987 | 2014 | ||||||||
|
0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 6 | 1987 | 2016 | ||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 5 | 1987 | 2012 | |||||||||
|
0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 1991 | 1991 | |||||||||
|
0.882 | 0.200 | 17 | 7674227 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 1991 | 1991 | |||||||||
|
0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv |
|
0.100 | 1.000 | 11 | 1998 | 2019 | |||||||||
|
0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv |
|
0.100 | 1.000 | 11 | 1998 | 2019 | |||||||||
|
0.827 | 0.120 | 21 | 34859486 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv |
|
0.740 | 1.000 | 22 | 2001 | 2019 | |||||||||
|
0.882 | 0.120 | 13 | 28018504 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 17 | 2001 | 2014 | |||||||||
|
0.925 | 0.120 | 13 | 28018503 | missense variant | A/C;T | snv |
|
0.800 | 1.000 | 15 | 2001 | 2014 |