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 | 4 | 625846 | missense variant | C/T | snv | 5.3E-04 | 4.5E-04 | 0.700 | 1.000 | 7 | 1993 | 2012 | ||||
|
1 | 1.000 | 4 | 662174 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 | 0.700 | 1.000 | 7 | 1993 | 2012 | ||||
|
1 | 1.000 | 4 | 663143 | stop gained | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 4 | 634791 | stop gained | A/G;T | snv | 2.1E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 4 | 660590 | stop gained | C/G;T | snv | 8.0E-06; 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 4 | 667922 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 4 | 625794 | frameshift variant | -/ACGGCGCTGCTGGAGCTGGTGCAGGATATGCAGGAGAGCATCAACATGGAGCGCGTGGTCTTCAAGGTCCT | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 4 | 655987 | frameshift variant | -/CG | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 4 | 656293 | splice donor variant | -/T | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 4 | 663772 | frameshift variant | CCTGAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGTGATC/TCTGGGTA | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 4 | 662619 | splice donor variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 4 | 635913 | missense variant | T/C | snv | 4.4E-03 | 4.6E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 4 | 660485 | frameshift variant | C/-;CC | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 4 | 653977 | frameshift variant | C/- | del | 7.0E-06 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 4 | 662188 | missense variant | C/T | snv | 3.0E-05 | 0.800 | 1.000 | 7 | 1993 | 2012 | ||||
|
2 | 0.925 | 0.080 | 4 | 625925 | missense variant | G/A | snv | 6.0E-05 | 2.8E-05 | 0.700 | 1.000 | 7 | 1993 | 2012 | |||
|
2 | 0.925 | 0.080 | 4 | 660579 | missense variant | T/C | snv | 6.8E-05 | 2.1E-05 | 0.700 | 1.000 | 7 | 1993 | 2012 | |||
|
2 | 0.925 | 0.080 | 4 | 663772 | frameshift variant | CCTGAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGTGA/TCTGGG | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 4 | 654119 | stop gained | C/T | snv | 4.4E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 4 | 662197 | missense variant | C/T | snv | 1.5E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 4 | 664945 | splice donor variant | G/A;T | snv | 7.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 4 | 660603 | missense variant | T/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 |