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 | 0.160 | 7 | 5995591 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 7 | 5987294 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 5995564 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 7 | 5997420 | stop gained | G/A | snv | 9.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 7 | 5977759 | splice acceptor variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 6003772 | frameshift variant | -/GA | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 7 | 5986826 | stop gained | T/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.851 | 0.320 | 7 | 5997388 | stop gained | AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 7 | 5989798 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 7 | 5987526 | frameshift variant | TTT/-;TTTT;TTTTTT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 5999193 | missense variant | C/G;T | snv | 3.7E-04 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 13 | 48349024 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.240 | 7 | 5987504 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.827 | 0.240 | 7 | 5995614 | stop gained | G/A;C | snv | 8.0E-06; 8.0E-05 | 0.700 | 0 | |||||||
|
5 | 1.000 | 0.160 | 7 | 6003718 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 7 | 5982881 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 7 | 5989923 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.280 | 7 | 5986933 | frameshift variant | -/T | delins | 1.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.160 | 7 | 5986883 | stop gained | G/A;C | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 7 | 5987012 | missense variant | G/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 7 | 5992044 | missense variant | A/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.200 | 7 | 5995612 | missense variant | T/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.200 | 7 | 5977629 | stop gained | G/A;T | snv | 2.7E-05 | 0.700 | 1.000 | 9 | 1995 | 2015 | ||||
|
5 | 0.882 | 0.200 | 7 | 6002590 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 1998 | 2016 | |||
|
3 | 0.925 | 0.200 | 7 | 5999199 | missense variant | T/G | snv | 8.0E-06 | 0.800 | 1.000 | 13 | 1999 | 2017 |