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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.280 | 8 | 91078597 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | X | 47181316 | frameshift variant | AG/- | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 2 | 55249467 | frameshift variant | CTTTTTTCACT/- | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 4 | 26406245 | missense variant | C/G | snv | 0.700 | 0 | |||||||||
|
13 | 0.807 | 0.240 | 19 | 49596253 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | X | 41216161 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
|
4 | 0.882 | 0.160 | X | 123634002 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | X | 54465532 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
8 | 0.851 | 0.080 | 8 | 91078383 | stop gained | C/T | snv | 1.6E-04 | 1.0E-04 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.200 | 2 | 39012333 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.807 | 0.280 | 8 | 91078416 | frameshift variant | TTAAC/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 15 | 25356778 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 11 | 61366050 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
11 | 0.776 | 0.480 | 16 | 75541466 | non coding transcript exon variant | A/G | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
11 | 0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv | 0.700 | 1.000 | 46 | 1988 | 2017 | |||||
|
2 | 1.000 | 19 | 13298827 | stop gained | G/A;C | snv | 0.700 | 1.000 | 46 | 1988 | 2017 | ||||||
|
1 | 1.000 | 19 | 13298847 | frameshift variant | -/A | ins | 0.700 | 1.000 | 46 | 1988 | 2017 | ||||||
|
6 | 0.827 | 0.160 | 19 | 13303584 | missense variant | C/T | snv | 0.700 | 1.000 | 46 | 1988 | 2017 | |||||
|
2 | 1.000 | 9 | 128203604 | missense variant | G/A | snv | 0.700 | 1.000 | 38 | 1983 | 2017 | ||||||
|
1 | 1.000 | 9 | 128220205 | missense variant | G/T | snv | 0.700 | 1.000 | 38 | 1983 | 2017 | ||||||
|
15 | 0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 | 0.700 | 1.000 | 36 | 1989 | 2018 | ||||
|
2 | 0.925 | 0.120 | 17 | 31235639 | frameshift variant | TTTG/- | delins | 0.700 | 1.000 | 34 | 1967 | 2017 | |||||
|
4 | 0.925 | 0.120 | 17 | 31235623 | stop gained | C/T | snv | 0.700 | 1.000 | 34 | 1967 | 2017 | |||||
|
2 | 1.000 | 2 | 165354339 | frameshift variant | GA/- | del | 0.700 | 1.000 | 34 | 1991 | 2017 |