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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.040 | 5 | 161895668 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.080 | 2 | 165374737 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 2 | 165310515 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.200 | 3 | 192335434 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 19 | 48419722 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.040 | 20 | 63442420 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 20 | 63439624 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | X | 18604394 | frameshift variant | -/GC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 78432614 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 72195389 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 12 | 23665471 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 127673233 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | X | 48905400 | frameshift variant | CACTGCAGCC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 15 | 82679729 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 15 | 82680174 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 165386837 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 165344679 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 165374743 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 165310376 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 166043864 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 20 | 63439652 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 20 | 63442424 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 127682423 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 127651622 | inframe deletion | AAA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 127678479 | stop gained | G/A;T | snv | 0.700 | 0 |