Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | X | 47181316 | frameshift variant | AG/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 2 | 55249467 | frameshift variant | CTTTTTTCACT/- | delins |
|
0.700 | 0 | |||||||||||||
|
2 | 201085517 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 4 | 26406245 | missense variant | C/G | snv |
|
0.700 | 0 | |||||||||||||
|
17 | 40637502 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||||
|
X | 40072918 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | X | 54465532 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.120 | 7 | 70766245 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
2 | 205763747 | frameshift variant | T/- | del | 7.0E-06 |
|
0.700 | 0 | |||||||||||||
|
1.000 | 19 | 13298827 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | ||||||||||
|
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 | ||||||||
|
0.925 | 0.120 | 17 | 31235623 | stop gained | C/T | snv |
|
0.700 | 1.000 | 34 | 1967 | 2017 | |||||||||
|
1.000 | 17 | 31330303 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 34 | 1967 | 2017 | ||||||||||
|
0.925 | 9 | 83971976 | stop gained | G/A | snv |
|
0.700 | 1.000 | 30 | 1996 | 2018 | ||||||||||
|
0.925 | 1 | 22086456 | missense variant | A/G | snv |
|
0.700 | 1.000 | 30 | 1993 | 2015 | ||||||||||
|
0.882 | 0.160 | 15 | 48432947 | stop gained | G/A | snv |
|
0.700 | 1.000 | 29 | 1986 | 2016 | |||||||||
|
0.882 | 0.120 | 15 | 48460258 | missense variant | C/T | snv |
|
0.700 | 1.000 | 29 | 1986 | 2016 | |||||||||
|
1.000 | 21 | 33554005 | frameshift variant | ACTC/- | del |
|
0.700 | 1.000 | 28 | 1988 | 2016 | ||||||||||
|
1.000 | 21 | 33554726 | stop gained | CTG/- | del |
|
0.700 | 1.000 | 28 | 1988 | 2016 | ||||||||||
|
1.000 | 19 | 41970483 | missense variant | G/T | snv |
|
0.700 | 1.000 | 27 | 1988 | 2017 | ||||||||||
|
0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv |
|
0.700 | 1.000 | 26 | 1985 | 2017 | |||||||||
|
1.000 | 10 | 121517425 | splice acceptor variant | CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/- | delins |
|
0.700 | 1.000 | 26 | 1985 | 2017 | ||||||||||
|
0.925 | 1 | 244055156 | missense variant | A/G | snv |
|
0.700 | 1.000 | 26 | 1997 | 2017 | ||||||||||
|
1.000 | 3 | 9447684 | splice acceptor variant | A/T | snv |
|
0.700 | 1.000 | 26 | 1995 | 2018 | ||||||||||
|
1.000 | 2 | 224503679 | frameshift variant | AG/- | delins |
|
0.700 | 1.000 | 25 | 1986 | 2016 |