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 | 0.080 | 12 | 132869741 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 5 | 132489448 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
37 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
16 | 0.724 | 0.440 | 3 | 179234286 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.360 | 7 | 140753393 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.120 | 9 | 21971018 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 39724733 | inframe insertion | -/TCCGTGATGGCT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 7 | 140781601 | inframe deletion | TCC/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 17 | 39724728 | inframe insertion | -/ATACGTGATGGC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 39724731 | inframe insertion | -/TACGTGATGGCT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 39724738 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 12 | 25245346 | synonymous variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 7 | 55174769 | protein altering variant | CAAGGAATTAAGAGAAGC/AAA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 7 | 55174777 | inframe deletion | TAAGAGAAG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 7 | 55181319 | inframe insertion | -/GGGTTG | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 179210293 | inframe deletion | AGATTTGCTGAACCC/- | del | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.320 | 3 | 179234230 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 25227234 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 9 | 21971063 | missense variant | C/A;G;T | snv | 4.3E-06; 8.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 21970958 | missense variant | G/A | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 3 | 189808322 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
21 | 0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.200 | 16 | 13934224 | missense variant | C/T | snv | 4.0E-03 | 4.6E-03 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
34 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.080 | 7 | 140753334 | inframe deletion | TCA/- | del | 0.700 | 1.000 | 1 | 2002 | 2002 |