| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.160 | 8 | 93765413 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.280 | 22 | 38113561 | missense variant | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 11 | 68934542 | missense variant | C/T | snv | 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 9 | 133352060 | splice donor variant | C/A;T | snv | 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.280 | 9 | 85588465 | frameshift variant | G/- | del | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 6 | 165450268 | missense variant | T/C | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 6 | 104796666 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 14 | 28767822 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 11 | 686986 | missense variant | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2014 | 2017 | ||||||||
|
1.000 | 0.320 | 8 | 99156693 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.160 | 15 | 72356531 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.120 | 9 | 127661140 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.160 | 12 | 13567164 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.320 | 20 | 45894704 | frameshift variant | AT/- | delins |
|
0.700 | 1.000 | 3 | 1996 | 2014 | |||||||||
|
0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | X | 150598681 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 19 | 41970211 | protein altering variant | AGTCT/GA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.807 | 0.400 | 10 | 75025250 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.200 | 13 | 101292052 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.160 | 7 | 76063579 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 7 | 76063554 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 |