| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv |
|
0.720 | 1.000 | 0 | 2012 | 2018 | |||||||||
|
0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv |
|
0.710 | 1.000 | 0 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 20 | 49374931 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.240 | 9 | 32984704 | stop gained | T/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.160 | 16 | 89531961 | missense variant | G/A;C | snv | 8.3E-04; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 11 | 1442607 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.040 | 11 | 681045 | inframe deletion | CTT/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.160 | 8 | 93808861 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.280 | 10 | 100989114 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 5 | 141955844 | stop gained | C/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.160 | 16 | 89550545 | missense variant | C/T | snv | 3.6E-05 | 1.5E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 16 | 89531903 | splice acceptor variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 16 | 89553853 | stop gained | G/A;C | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 9 | 133356441 | start lost | ACCGCCGCCATCGCACCCGGCCCC/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.160 | 16 | 89556954 | missense variant | C/T | snv | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 89524099 | frameshift variant | TC/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.280 | 10 | 100988541 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 6 | 33443751 | frameshift variant | C/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 42930671 | frameshift variant | -/C | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.120 | 19 | 7541025 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.320 | 11 | 108244812 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 22 | 38120867 | missense variant | T/C;G | snv | 2.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 |