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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 9 | 94639141 | frameshift variant | AGGTGCGCGATGCCCGCCTTGCGCACCGCCGAAGAGATGGCTTTGACTGCTGTGCAGAGCGAGTTGAGCAGCTGGGTCAACTCGCCCGTGCCGCGGGCCTTCCTGCCCTCCTCCATGACGAAGCGGGTCAGGGTGTTGACGTCCGTGTCGAAGGGCGCCTGGTCAGCCAT/- | del | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 9 | 94605553 | frameshift variant | CCCCATAAGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 94605456 | splice donor variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 94639223 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 94617767 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 94617845 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 94620329 | splice acceptor variant | CTTTTCTCCGGTTCCACTATGATGGCGTGTTTATCTTCTTCTGACACGAGAACACACGTGGCAAAGGATGACTTTAACATGTTCATAACCAGGTCGTTGGAGAGGACGTCCAGCTTCTTAACTTGATCACCTGTCACGTTGGTAGAACCAGCAATGCCATAGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 94603437 | frameshift variant | -/C | ins | 8.0E-05 | 2.2E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 9 | 94617839 | missense variant | C/T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 94606906 | frameshift variant | TTTT/- | delins | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 94606816 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 94605504 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 94603557 | stop gained | C/A;T | snv | 7.6E-05 | 7.0E-06 | 0.710 | 1.000 | 4 | 2013 | 2018 | |||
|
2 | 0.925 | 0.080 | 9 | 94609998 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.800 | 1.000 | 5 | 1997 | 2016 | |||
|
1 | 1.000 | 0.080 | 9 | 94609958 | missense variant | G/A;T | snv | 0.800 | 1.000 | 3 | 1997 | 2015 | |||||
|
1 | 1.000 | 0.080 | 9 | 94606939 | missense variant | A/G | snv | 0.800 | 1.000 | 3 | 1997 | 2015 | |||||
|
1 | 1.000 | 0.080 | 9 | 94603547 | missense variant | G/C | snv | 0.800 | 1.000 | 3 | 1997 | 2015 | |||||
|
1 | 1.000 | 0.080 | 9 | 94610016 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 | 0.800 | 0 |