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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 12 | 13571888 | missense variant | C/T | snv | 0.800 | 1.000 | 7 | 2010 | 2017 | ||||||
|
1 | 1.000 | 12 | 13571931 | missense variant | G/A | snv | 0.800 | 1.000 | 7 | 2010 | 2017 | ||||||
|
1 | 1.000 | 12 | 13615626 | missense variant | C/T | snv | 0.800 | 1.000 | 7 | 2010 | 2017 | ||||||
|
1 | 1.000 | 12 | 13611847 | missense variant | G/A | snv | 0.800 | 1.000 | 7 | 2010 | 2017 | ||||||
|
1 | 1.000 | 12 | 13616545 | missense variant | T/C | snv | 0.800 | 1.000 | 7 | 2010 | 2017 | ||||||
|
2 | 0.925 | 12 | 13567084 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1.000 | 12 | 13608792 | stop gained | C/G;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 13865797 | splice donor variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 13567265 | splice acceptor variant | T/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 13753523 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 13611773 | inframe deletion | AAGACA/- | delins | 0.700 | 0 | |||||||||
|
2 | 0.925 | 12 | 13567063 | frameshift variant | A/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 13866109 | frameshift variant | -/G | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 13570019 | splice acceptor variant | T/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 13611828 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
4 | 0.882 | 0.040 | 12 | 13615149 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.040 | 12 | 13608755 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
17 | 0.807 | 0.160 | 12 | 13567164 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 12 | 13571910 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 13569937 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
11 | 0.827 | 0.160 | 12 | 13571930 | missense variant | C/T | snv | 0.700 | 0 |