| 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 | 21 | 33554269 | stop gained | G/T | snv |
|
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 | 41968833 | missense variant | A/G | snv |
|
0.700 | 1.000 | 27 | 1988 | 2017 | ||||||||||
|
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 | 1 | 244054804 | frameshift variant | GATGA/- | delins |
|
0.700 | 1.000 | 26 | 1997 | 2017 | ||||||||||
|
1.000 | 10 | 121517425 | splice acceptor variant | CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/- | delins |
|
0.700 | 1.000 | 26 | 1985 | 2017 | ||||||||||
|
1.000 | 12 | 51768899 | missense variant | C/T | snv |
|
0.700 | 1.000 | 26 | 1995 | 2017 | ||||||||||
|
0.882 | 0.160 | 12 | 51765675 | missense variant | G/A | snv |
|
0.700 | 1.000 | 26 | 1995 | 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 | ||||||||||
|
0.925 | 2 | 60545969 | splice donor variant | A/G | snv |
|
0.700 | 1.000 | 25 | 2000 | 2018 | ||||||||||
|
1.000 | 2 | 224503679 | frameshift variant | AG/- | delins |
|
0.700 | 1.000 | 25 | 1986 | 2016 | ||||||||||
|
1.000 | 2 | 224497809 | stop gained | G/A | snv |
|
0.700 | 1.000 | 25 | 1986 | 2016 | ||||||||||
|
1.000 | 9 | 137162182 | missense variant | G/A | snv |
|
0.700 | 1.000 | 25 | 1983 | 2017 | ||||||||||
|
0.882 | 9 | 137163845 | missense variant | C/T | snv |
|
0.700 | 1.000 | 25 | 1983 | 2017 | ||||||||||
|
1.000 | 12 | 49022591 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||||
|
1.000 | 12 | 49030285 | frameshift variant | -/GTGCCCTT | delins |
|
0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||||
|
1.000 | 12 | 49031293 | frameshift variant | TT/- | del |
|
0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||||
|
1.000 | 12 | 49033147 | frameshift variant | -/AGCCTGTGTCC | delins |
|
0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||||
|
1.000 | 12 | 49044766 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||||
|
1.000 | 12 | 49046358 | stop gained | G/C;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 25 | 1988 | 2017 | |||||||||
|
0.925 | 0.120 | 12 | 49032113 | stop gained | G/A | snv |
|
0.700 | 1.000 | 25 | 1988 | 2017 | |||||||||
|
0.925 | 0.120 | 12 | 49031255 | stop gained | G/A | snv |
|
0.700 | 1.000 | 25 | 1988 | 2017 | |||||||||
|
1.000 | 12 | 49026431 | missense variant | G/A | snv |
|
0.700 | 1.000 | 25 | 1988 | 2017 |