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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 8 | 86427804 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 1 | 228316753 | missense variant | C/T | snv | 3.3E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | 20 | 38156054 | missense variant | G/A | snv | 2.4E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.120 | X | 78042645 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.120 | 6 | 161350178 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | X | 31209642 | missense variant | T/C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 11 | 22226034 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 1.000 | 0.120 | 21 | 46114006 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156130724 | inframe deletion | AGCGCACGCTGGAGG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156134954 | inframe deletion | GAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156135208 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156135214 | inframe deletion | GAACAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156136111 | inframe deletion | GAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 32823294 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156115022 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 71511847 | missense variant | G/A | snv | 7.1E-03 | 4.1E-03 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | 2 | 178790707 | splice donor variant | C/T | snv | 4.8E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 14 | 77301228 | frameshift variant | C/- | delins | 1.2E-05 | 0.700 | 0 | |||||||
|
9 | 1.000 | 0.120 | 2 | 178527491 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 156138575 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 1 | 156137212 | missense variant | C/G;T | snv | 9.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 14 | 77283874 | splice acceptor variant | CTAGG/TCA | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 18 | 2724901 | missense variant | G/A;C;T | snv | 4.9E-06; 4.9E-06; 4.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 1 | 156134860 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
5 | 0.925 | 0.120 | 6 | 105124593 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |