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 | 7 | 55157738 | missense variant | G/A | snv | 4.0E-06 |
|
0.800 | 0 | ||||||||||||
|
1.000 | 0.040 | 7 | 55181318 | protein altering variant | -/GTC | ins |
|
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 | ||||||||||||
|
0.790 | 0.160 | 7 | 55155917 | missense variant | G/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 7 | 55155917 | missense variant | G/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 7 | 55155917 | missense variant | G/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 7 | 55155917 | missense variant | G/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 7 | 55155917 | missense variant | G/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 7 | 55155917 | missense variant | G/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 7 | 55155917 | missense variant | G/T | snv | 4.0E-06 |
|
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 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.800 | 0.983 | 1 | 2004 | 2020 | |||||||||
|
0.807 | 0.120 | 7 | 55174014 | missense variant | G/A;C;T | snv |
|
0.720 | 1.000 | 1 | 2016 | 2018 | |||||||||
|
0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv |
|
0.710 | 1.000 | 1 | 2016 | 2020 | |||||||||
|
0.807 | 0.080 | 7 | 55154129 | missense variant | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2016 | 2018 | |||||||||
|
7 | 55160314 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.925 | 0.080 | 7 | 55173927 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
7 | 55143387 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||||
|
7 | 55154050 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||||
|
1.000 | 0.040 | 7 | 55163737 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.040 | 7 | 55154128 | missense variant | GC/AA;AT | mnv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.040 | 7 | 55154128 | missense variant | GC/AA;AT | mnv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |