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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.701 | 0.520 | X | 154030553 | splice acceptor variant | TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- | delins | 0.700 | 0 | ||||||||
|
46 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.710 | 1.000 | 7 | 2000 | 2019 | |||||
|
30 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
17 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | X | 154030639 | stop gained | C/A;T | snv | 5.8E-06; 5.8E-06; 2.2E-03 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 1.000 | 0.080 | X | 154031430 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
8 | 0.851 | 0.120 | X | 154031154 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | X | 154031145 | missense variant | G/C | snv | 7.4E-04 | 2.9E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
19 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
1 | X | 154030753 | missense variant | A/G | snv | 8.3E-05 | 4.8E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 |