| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.120 | 3 | 49723648 | missense variant | C/G | snv | 4.5E-06; 7.0E-04 | 5.3E-04 |
|
0.700 | 1.000 | 7 | 2013 | 2017 | |||||||
|
0.851 | 0.120 | 3 | 49722057 | missense variant | G/A;T | snv | 1.0E-04; 1.2E-05 |
|
0.700 | 1.000 | 6 | 2015 | 2017 | ||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
0.700 | 1.000 | 3 | 2016 | 2018 | |||||||||
|
0.882 | 0.160 | 11 | 22255403 | stop gained | C/T | snv | 1.6E-05 | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.120 | 21 | 46114006 | splice acceptor variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 19 | 46756837 | missense variant | A/G | snv | 1.2E-04 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 1 | 156130724 | inframe deletion | AGCGCACGCTGGAGG/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 156134954 | inframe deletion | GAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 156135208 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 156135214 | inframe deletion | GAACAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 156136111 | inframe deletion | GAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 2 | 71513892 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 2 | 71570335 | splice donor variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 4 | 3473504 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 15 | 42399617 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | X | 31875197 | frameshift variant | -/AATG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | X | 32823294 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | X | 32518006 | splice donor variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 128957260 | frameshift variant | G/- | del |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 14 | 77278764 | missense variant | T/C | snv | 5.6E-05 | 9.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 2 | 71551635 | missense variant | T/C | snv | 2.9E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 6 | 129486605 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 1 | 156136219 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 1 | 156136045 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 156115022 | missense variant | T/C | snv |
|
0.700 | 0 |