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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
37 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 0.710 | 1.000 | 2 | 1985 | 2015 | ||||
|
14 | 0.776 | 0.160 | 14 | 94380925 | missense variant | T/A | snv | 2.3E-02 | 2.9E-02 | 0.710 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.160 | 14 | 94382823 | missense variant | C/T | snv | 9.1E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 1990 | 1990 | |||
|
4 | 0.882 | 0.160 | 14 | 94380949 | missense variant | T/A | snv | 4.7E-04 | 3.3E-04 | 0.700 | 1.000 | 1 | 1989 | 1989 | |||
|
3 | 0.882 | 0.160 | 14 | 94382966 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 1990 | 1990 | |||||
|
3 | 0.882 | 0.160 | 14 | 94383044 | missense variant | A/G | snv | 4.4E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 1988 | 1988 | |||
|
3 | 0.882 | 0.160 | 14 | 94383051 | missense variant | G/A | snv | 1.1E-03 | 1.5E-03 | 0.700 | 1.000 | 1 | 1989 | 1989 | |||
|
3 | 0.882 | 0.160 | 14 | 94382891 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 1990 | 1990 | |||||
|
3 | 0.882 | 0.160 | 14 | 94383008 | missense variant | G/A | snv | 1.4E-04 | 0.700 | 1.000 | 1 | 1993 | 1993 | ||||
|
3 | 0.882 | 0.160 | 14 | 94383009 | inframe deletion | AGA/- | delins | 1.7E-04 | 0.700 | 1.000 | 1 | 1989 | 1989 | ||||
|
5 | 0.851 | 0.200 | 14 | 94378561 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 14 | 94383069 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 14 | 94378633 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 14 | 94378633 | frameshift variant | TG/- | del | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 14 | 94378640 | splice donor variant | GGAGGGGAGAGAAGCAGAGACACGTTGTAAGGCTGATCCCAGGCCTCGAGCAAGGCTCACGTGGACACCTCCCAGGAAGCGCTCACTCCCCCTGGACGGCCCTGGCCCTGCACATCCTCTCCCTCCCTGTCACATAGGCCTTGCTCCTCCTCAAGGCTTTGGCTGATGGGGCTGGCTCCCCTCTGTCCATCTTCCTGACAAGCGCCTCTCCCCCTGCTCAGGTGCACCCACAACTCAGAACAGGGAAGAGCATCGTCACTCCACGTCTGCCTCCAGGGCTCTCTCCTTTCTAGTACACGGCTTGAAGCTCCTTGAGGACACGGACCCTGGCAGTGACCTTCACAGTGCCCAGACCCCAAGATAATGCAGCCATTCATGGAACTGCAGTTGTTCATTGGTCGCCTTTAGTTTTCCAAAATAAGTGTCATCTTTAGCTGAAATCATTCATTAATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAATGTCTAGAAGGTCTTGGGCAAAGTTGAAATTCAGGGTCAGTGACACAACCTCAAGGGAGGCCCCGAAAGTGCCAGCTGCACAGCAGTCCCCTGCCTGGCTTTGCTGTTTGACCACGTCCCGTGTCAGTGAATCACGGGCATCTTCAGGAGCTCAGCCTGGGTCTTCATTTGTTTCCCTCGGCCCCTTCCTCAGCCTCAGGACAGAGCTGCAGCCCCCACACATTCTTCCCTACAGATACCAGGGTGCAACAAGGTCGTCAGGGTGATCTCACCT/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 14 | 94383011 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 14 | 94383237 | start lost | T/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 14 | 94378528 | missense variant | G/A;C;T | snv | 4.8E-05; 1.2E-05; 3.2E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 14 | 94381067 | stop gained | T/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.160 | 14 | 94382686 | frameshift variant | G/- | del | 1.4E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 14 | 94382591 | splice donor variant | C/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.160 | 14 | 94382592 | missense variant | C/A | snv | 2.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.160 | 14 | 94378548 | frameshift variant | G/-;GG | delins | 4.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 14 | 94377595 | 3 prime UTR variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 14 | 94388540 | intron variant | G/A | snv | 0.16 | 0.010 | < 0.001 | 1 | 2017 | 2017 |