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 | 16 | 23614039 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47795984 | frameshift variant | TAAA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108249045 | stop gained | G/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||||
|
1 | 17 | 61801267 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
12 | 0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 11 | 64805078 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 11 | 64804789 | stop gained | G/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 11 | 112086908 | start lost | A/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 11 | 108279546 | stop gained | A/G;T | snv | 0.700 | 0 | ||||||||||
|
2 | 2 | 47800892 | frameshift variant | GGG/-;GG;GGGG | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.200 | 11 | 108287599 | splice acceptor variant | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 9 | 95240655 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.040 | 8 | 89946236 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 8 | 89982719 | splice region variant | CAGGTTGGTTAC/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 11 | 108267310 | frameshift variant | CA/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 11 | 108281133 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 11 | 108287622 | frameshift variant | TACCAGAGATT/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 8 | 89958724 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 11 | 108282709 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 16 | 23629214 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 16 | 68829653 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 2 | 47798890 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 16 | 23641155 | start lost | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 16 | 23607958 | frameshift variant | G/- | del | 0.700 | 0 |