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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | ||||||||
|
45 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
11 | 0.851 | 0.080 | 8 | 23007627 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
26 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 0.700 | 0 | ||||||||
|
23 | 0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
34 | 0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
23 | 0.752 | 0.240 | 19 | 13262771 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
31 | 0.752 | 0.280 | 12 | 2653847 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
21 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
24 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.320 | 6 | 78969879 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.280 | 6 | 78982908 | frameshift variant | CTTT/- | delins | 0.700 | 0 | ||||||||
|
15 | 0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins | 0.700 | 0 | ||||||||
|
16 | 0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.851 | 0.120 | 14 | 77026534 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
10 | 0.807 | 0.240 | 17 | 38739601 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
33 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 0.700 | 0 | ||||||||
|
50 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.925 | 0.320 | 8 | 99853469 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
33 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
44 | 0.701 | 0.600 | 13 | 23886338 | missense variant | C/G;T | snv | 4.8E-06; 9.6E-06 | 0.700 | 0 | |||||||
|
57 | 0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
17 | 0.807 | 0.160 | 12 | 13567164 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.040 | 7 | 140781678 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 |