Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 15 | 61915631 | splice donor variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 15 | 61882652 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 15 | 61947292 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 15 | 62013058 | frameshift variant | -/TCTG | delins |
|
0.700 | 0 | |||||||||||||
|
15 | 61928573 | intron variant | C/T | snv | 8.7E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 62040781 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
15 | 62055686 | intron variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 62055686 | intron variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 61940181 | intron variant | C/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 61940181 | intron variant | C/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.040 | 15 | 61958608 | missense variant | C/G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 15 | 61958608 | missense variant | C/G | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
15 | 62027233 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.925 | 0.040 | 15 | 61915631 | splice donor variant | A/C | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 15 | 61882652 | stop gained | C/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 15 | 61947292 | frameshift variant | G/- | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 15 | 62013057 | frameshift variant | -/TCTG | ins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
15 | 61982741 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |