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 | 0.280 | 2 | 144389740 | missense variant | T/C | snv | 0.800 | 1.000 | 5 | 2001 | 2011 | |||||
|
1 | 1.000 | 0.280 | 2 | 144429811 | frameshift variant | A/- | del | 0.700 | 1.000 | 2 | 1991 | 2008 | |||||
|
30 | 0.752 | 0.480 | 2 | 144399104 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.280 | 2 | 144401309 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.280 | 2 | 144424848 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.280 | 2 | 144517276 | splice donor variant | A/G | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.280 | 2 | 144390001 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 2 | 144404063 | stop gained | G/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 2 | 144389926 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.280 | 2 | 144389932 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 2 | 144399542 | stop gained | T/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.280 | 2 | 144398632 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.280 | 2 | 144389896 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 2 | 144389978 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 2 | 144389987 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 2 | 144396456 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 2 | 144398381 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 2 | 144398498 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 2 | 144398960 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 2 | 144398972 | frameshift variant | -/GGAG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 2 | 144399034 | stop gained | -/TGGGAGCTAACGGCTTGGAGCTTCTTTCCAGGGATGGGGACCTGGAATTTGAGTACTGGTAGACTTTTCGTTGTTCAAACCATTCCTTCACAAATTCCTGAGGAAGGCCCACAGC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 2 | 144399115 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 2 | 144399645 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 2 | 144399698 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 2 | 144400019 | frameshift variant | T/- | delins | 0.700 | 0 |