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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 11 | 2171785 | start lost | A/G | snv | 8.2E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 11 | 2169855 | splice acceptor variant | CAATGAACCGCGGGGACTGTGGGGAC/- | 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 | 2165284 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 11 | 2169759 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
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 | 2166530 | frameshift variant | G/- | del | 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 | 2169665 | frameshift variant | -/CGGGACAGCGCCGAGGGCT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2171744 | frameshift variant | AAGCCCTTGGCCTGTGGCGTGGTGGCGTCGGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2167013 | frameshift variant | CG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2169679 | frameshift variant | C/- | 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 | 2168489 | splice donor variant | A/G | snv | 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 | 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 | 2171857 | 5 prime UTR variant | G/A | snv | 2.1E-05 | 0.700 | 1.000 | 5 | 1997 | 2015 | ||||
|
3 | 1.000 | 0.040 | 11 | 2167905 | missense variant | C/T | snv | 1.1E-04 | 1.4E-04 | 0.800 | 1.000 | 23 | 1995 | 2014 |