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 | 13 | 76992116 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76992171 | frameshift variant | TC/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76992175 | stop gained | G/A;C | snv | 2.2E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 13 | 76992176 | stop gained | G/A;T | snv | 2.7E-05; 3.1E-05 | 0.700 | 1.000 | 2 | 2000 | 2002 | ||||
|
1 | 1.000 | 0.120 | 13 | 76992182 | stop gained | G/A;T | snv | 4.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 13 | 76992215 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76992229 | frameshift variant | TC/- | delins | 9.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 13 | 76992238 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76992250 | frameshift variant | ACTGGCCGGTGCC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 13 | 76995077 | missense variant | G/A;C | snv | 8.0E-06 | 0.800 | 1.000 | 10 | 1998 | 2015 | ||||
|
1 | 1.000 | 0.120 | 13 | 76995079 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76995119 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76995175 | stop gained | C/T | snv | 2.4E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 13 | 76995233 | splice region variant | G/C | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 13 | 76995901 | splice acceptor variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76995939 | stop gained | T/G | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 13 | 76995942 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76995980 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 13 | 76995990 | missense variant | A/G | snv | 0.800 | 1.000 | 10 | 1998 | 2015 | |||||
|
1 | 1.000 | 0.120 | 13 | 76995993 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76995998 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76996008 | missense variant | T/C | snv | 4.0E-06 | 0.800 | 1.000 | 10 | 1998 | 2015 | ||||
|
2 | 0.925 | 0.120 | 13 | 76996010 | stop gained | C/T | snv | 2.0E-05 | 7.7E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 13 | 76996028 | missense variant | C/T | snv | 0.800 | 1.000 | 10 | 1998 | 2015 | |||||
|
1 | 1.000 | 0.120 | 13 | 76996034 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 |