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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 42722069 | frameshift variant | GCTGGGTC/- | del |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
6 | 42722120 | missense variant | C/A;G | snv | 4.0E-06; 2.4E-05 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||||
|
6 | 42710096 | intron variant | A/C;T | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 42705940 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 6 | 42704556 | missense variant | A/G | snv | 4.0E-06 |
|
0.800 | 1.000 | 4 | 1993 | 2016 | ||||||||
|
1.000 | 0.040 | 6 | 42704534 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 4 | 1993 | 2016 | |||||||
|
1.000 | 0.040 | 6 | 42698323 | missense variant | T/A;C;G | snv | 0.78; 1.2E-05 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
1.000 | 0.040 | 6 | 42722255 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
1.000 | 0.040 | 6 | 42704478 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 6 | 42721968 | missense variant | G/A | snv | 1.8E-04 | 1.8E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 6 | 42698438 | frameshift variant | CA/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 6 | 42722133 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 6 | 42704556 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 6 | 42721913 | frameshift variant | -/AGTA | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 6 | 42704570 | missense variant | C/T | snv | 4.8E-05 | 9.8E-05 |
|
0.700 | 1.000 | 11 | 1991 | 2016 | |||||||
|
0.882 | 0.080 | 6 | 42704559 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.700 | 1.000 | 11 | 1991 | 2016 | ||||||||
|
0.925 | 0.080 | 6 | 42704552 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 11 | 1991 | 2016 | |||||||||
|
0.882 | 0.080 | 6 | 42704547 | missense variant | G/A | snv |
|
0.700 | 1.000 | 11 | 1991 | 2016 | |||||||||
|
0.882 | 0.080 | 6 | 42704546 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.800 | 1.000 | 11 | 1991 | 2016 | |||||||
|
0.925 | 0.080 | 6 | 42704461 | missense variant | G/C;T | snv |
|
0.800 | 1.000 | 11 | 1991 | 2016 | |||||||||
|
1.000 | 0.080 | 6 | 42698422 | missense variant | C/T | snv |
|
0.700 | 1.000 | 5 | 1997 | 2016 | |||||||||
|
1.000 | 0.080 | 6 | 42704558 | missense variant | C/G | snv |
|
0.700 | 1.000 | 5 | 1997 | 2016 | |||||||||
|
0.807 | 0.080 | 6 | 42704609 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 4 | 2006 | 2016 | ||||||||
|
0.925 | 0.080 | 6 | 42704535 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 1993 | 2016 | ||||||||
|
0.807 | 0.080 | 6 | 42704609 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2003 | 2012 |