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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
5 | 0.851 | 0.280 | 10 | 120865109 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.280 | 9 | 137453808 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
12 | 0.851 | 0.200 | 17 | 67909751 | splice donor variant | GAAGGACCAAGG/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
46 | 0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
32 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
16 | 0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.807 | 0.280 | 8 | 38414263 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
33 | 0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
19 | 0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.240 | 15 | 48415571 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.200 | 2 | 201675255 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.280 | 8 | 91078597 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
53 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.240 | 15 | 48425420 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
18 | 0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
25 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
12 | 0.790 | 0.280 | 15 | 48437026 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.280 | 15 | 48600217 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
17 | 0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
53 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
22 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 |