Source: ALL
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 | 0.040 | 11 | 2164339 | missense variant | G/A | snv | 4.0E-05 | 2.1E-05 | 0.800 | 0 | ||||||
|
2 | 0.925 | 0.120 | 14 | 54844108 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 14 | 54902341 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2166689 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2167011 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2171774 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2166632 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2166001 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2169855 | splice acceptor variant | CAATGAACCGCGGGGACTGTGGGGAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2168489 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2166530 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2165679 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 11 | 2167865 | splice donor variant | C/T | snv | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 11 | 2166985 | missense variant | C/A | snv | 4.8E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 14 | 54845799 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2165300 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2165688 | frameshift variant | CAGCA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2166764 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2167034 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2167851 | splice donor variant | AGGGGCCCCTCACTGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2167864 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2168490 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2169649 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2169665 | frameshift variant | -/CGGGACAGCGCCGAGGGCT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2171744 | frameshift variant | AAGCCCTTGGCCTGTGGCGTGGTGGCGTCGGG/- | delins | 0.700 | 0 |