| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 22 | 50721505 | frameshift variant | G/-;GG | delins |
|
0.700 | 1.000 | 2 | 2015 | 2019 | |||||||||
|
0.925 | 0.160 | 4 | 148435252 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 147562137 | splice acceptor variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 148468916 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 22 | 50721257 | frameshift variant | CT/- | del |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 5 | 88752044 | splice acceptor variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 10 | 87864353 | 5 prime UTR variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 10 | 87864406 | 5 prime UTR variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 11 | 687909 | splice donor variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 11 | 70485988 | frameshift variant | TG/- | del |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.160 | 16 | 2086283 | frameshift variant | AAGGACTGCCA/- | del |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | X | 53254702 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 22 | 50465238 | stop gained | C/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 11 | 124923339 | splice donor variant | C/T | snv | 9.6E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 17 | 30998906 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.320 | 15 | 66435145 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 17 | 31221945 | frameshift variant | TTT/-;TTTT | delins | 6.6E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 5 | 88731773 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 16 | 2060775 | missense variant | C/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.280 | 9 | 137817477 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.200 | 10 | 87925511 | splice acceptor variant | A/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 1 | 151405647 | missense variant | A/C;G | snv |
|
0.700 | 0 |