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 | 2 | 47800892 | frameshift variant | GGG/-;GG;GGGG | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.160 | 2 | 47798890 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 2 | 47804920 | stop gained | T/A | snv | 0.700 | 0 | ||||||||||
|
2 | 7 | 5987022 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||||
|
1 | 7 | 5982858 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 3 | 37047639 | frameshift variant | AA/A;AAA;G | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 37001014 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 37007000 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 3 | 37025668 | frameshift variant | GAGATGG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 37025639 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 37050517 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 37025644 | stop gained | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47410115 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47403404 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47429776 | stop gained | G/A;C;T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47403278 | frameshift variant | GCCG/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 47403276 | stop gained | A/T | snv | 0.700 | 0 | ||||||||||
|
2 | 2 | 47463156 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47463048 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47463114 | frameshift variant | GAAG/AAA | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47476522 | stop gained | G/T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47445574 | frameshift variant | -/T;TT | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47791106 | frameshift variant | TT/-;TTT | delins | 0.700 | 0 | ||||||||||
|
2 | 2 | 47805636 | frameshift variant | GAATT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47801132 | frameshift variant | C/- | del | 0.700 | 0 |