| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
11 | 108259050 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||||
|
11 | 108307917 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.120 | 16 | 2077476 | non coding transcript exon variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 2061946 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1992 | 1992 | ||||||||
|
1.000 | 0.040 | 14 | 81143914 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1993 | 1993 | |||||||||
|
0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 1995 | 1995 | |||||||||
|
7 | 141972869 | missense variant | C/T | snv | 1.6E-04 | 1.7E-04 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | |||||||||
|
22 | 29678208 | missense variant | A/C;G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||||
|
2 | 219216057 | missense variant | C/A;T | snv | 2.0E-04 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||||
|
20 | 58854270 | missense variant | G/A;T | snv | 8.2E-06 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||||
|
0.724 | 0.280 | 10 | 43113648 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
1.000 | 0.120 | 6 | 54121506 | missense variant | A/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
0.732 | 0.160 | 10 | 43113649 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 1995 | 1995 | |||||||||
|
0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 1995 | 1995 | |||||||||
|
0.763 | 0.320 | 10 | 73913343 | missense variant | T/C | snv | 0.75 | 0.81 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.827 | 0.160 | 7 | 116777410 | missense variant | A/C;G | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
1.000 | 0.080 | 13 | 48463758 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
1.000 | 0.040 | 6 | 121447605 | missense variant | C/T | snv | 8.1E-03 | 9.1E-03 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.925 | 0.160 | 11 | 2922102 | missense variant | G/A | snv | 1.3E-04 | 1.4E-04 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
1.000 | 0.120 | 11 | 64808031 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 |