Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 5 | 150059771 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 5 | 150060942 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 5 | 150055288 | missense variant | A/C;G | snv | 4.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 5 | 150057309 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 5 | 150056280 | missense variant | A/G | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 5 | 150055267 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 5 | 150056100 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 5 | 150055325 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 5 | 150060874 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 5 | 150054368 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 5 | 150061731 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 1989 | 1989 | |||||
|
1 | 1.000 | 0.040 | 5 | 150056034 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 150056097 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 150056130 | missense variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 5 | 150056052 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 5 | 150055329 | missense variant | A/T | snv | 2.4E-05 | 4.9E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 5 | 150056337 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 150056032 | inframe deletion | AGA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 150056071 | missense variant | C/A | snv | 0.800 | 1.000 | 2 | 2011 | 2014 | |||||
|
1 | 1.000 | 0.040 | 5 | 150056218 | splice donor variant | C/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 5 | 150056316 | missense variant | C/A;T | snv | 0.730 | 1.000 | 3 | 2013 | 2015 | |||||
|
1 | 1.000 | 0.040 | 5 | 150056039 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 5 | 150056214 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 150056068 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 5 | 150057298 | missense variant | C/G;T | snv | 1.2E-05 | 0.700 | 0 |