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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 6 | 1610512 | stop gained | C/G;T | snv | 1.7E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 1610545 | frameshift variant | GGGGGCGGCT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 1610558 | frameshift variant | CCATGCCG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 1610932 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 1611038 | frameshift variant | AGCCCCCGCCCGCGCCGCC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 1611110 | frameshift variant | CATCCAGGACATCAAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 1611163 | frameshift variant | CT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 1611369 | frameshift variant | AGCGTGGACAACATCATGACGTCGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 1611710 | stop gained | C/A;T | snv | 1.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 1610949 | inframe insertion | GCG/-;GCGGCG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 6 | 1610852 | inframe deletion | GTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 1610637 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 1610822 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 1611936 | stop gained | C/G;T | snv | 5.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 1611398 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.080 | 6 | 1610803 | stop gained | C/T | snv | 0.700 | 1.000 | 5 | 2001 | 2011 | |||||
|
1 | 1.000 | 0.080 | 6 | 1611587 | frameshift variant | CGG/GCGC | delins | 0.700 | 1.000 | 3 | 2001 | 2011 | |||||
|
2 | 1.000 | 0.080 | 6 | 1610586 | stop gained | C/G;T | snv | 1.8E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.080 | 6 | 1610780 | missense variant | T/A;C | snv | 8.0E-06 | 0.800 | 1.000 | 20 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 1610690 | missense variant | G/C | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1998 | 2017 | ||||
|
2 | 0.925 | 0.080 | 6 | 1610706 | missense variant | C/G | snv | 0.700 | 1.000 | 20 | 1998 | 2017 | |||||
|
2 | 0.925 | 0.080 | 6 | 1610837 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1998 | 2017 | |||||
|
2 | 0.925 | 0.080 | 6 | 1610823 | missense variant | C/A;G;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 20 | 1998 | 2017 | ||||
|
2 | 0.925 | 0.080 | 6 | 1610833 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 1610701 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1998 | 2017 |