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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.160 | 2 | 47783236 | start lost | G/A;C;T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.240 | 2 | 47783243 | stop gained | C/G;T | snv | 2.5E-05 | 0.700 | 1.000 | 6 | 2010 | 2018 | ||||
|
1 | 2 | 47783343 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47783376 | frameshift variant | -/AGCGAGGCTGGGCCTGG | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47783387 | stop gained | G/T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47783400 | frameshift variant | CCAGGCCCTTGGC/- | delins | 0.700 | 0 | ||||||||||
|
2 | 2 | 47783453 | stop gained | G/T | snv | 0.700 | 1.000 | 4 | 2006 | 2015 | |||||||
|
1 | 2 | 47783493 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47783494 | splice donor variant | G/C | snv | 0.700 | 0 | ||||||||||
|
2 | 2 | 47783495 | splice donor variant | TA/AG | mnv | 0.700 | 0 | ||||||||||
|
2 | 2 | 47790926 | splice acceptor variant | G/C | snv | 7.0E-06 | 0.700 | 0 | |||||||||
|
1 | 2 | 47790981 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 2 | 47791020 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 2 | 47791043 | stop gained | C/G | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47791059 | frameshift variant | TTTTTTGATGACAG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47791085 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
2 | 2 | 47791089 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||||
|
5 | 0.882 | 0.160 | 2 | 47795903 | stop gained | C/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 14 | 1999 | 2015 | |||
|
2 | 2 | 47795904 | frameshift variant | AAAG/- | del | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||||
|
1 | 2 | 47795914 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 2 | 47795927 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47795984 | frameshift variant | TAAA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47796001 | stop gained | A/T | snv | 0.700 | 0 | ||||||||||
|
2 | 2 | 47796013 | frameshift variant | T/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 1.000 | 0.160 | 2 | 47796035 | stop gained | C/A;G | snv | 0.700 | 1.000 | 1 | 2006 | 2006 |