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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 17 | 44853630 | frameshift variant | -/A | delins | 0.700 | 1.000 | 15 | 2006 | 2017 | ||||||
|
3 | 1.000 | 15 | 38339805 | frameshift variant | -/A | delins | 0.700 | 1.000 | 14 | 1988 | 2013 | ||||||
|
3 | 1.000 | 1 | 151406151 | frameshift variant | -/A | delins | 0.700 | 1.000 | 13 | 1999 | 2017 | ||||||
|
4 | 1.000 | 22 | 35781685 | frameshift variant | -/A | delins | 0.700 | 1.000 | 6 | 2005 | 2016 | ||||||
|
3 | 1.000 | 17 | 76733042 | frameshift variant | -/A | delins | 7.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
2 | 1.000 | 5 | 177210101 | stop gained | -/AG | ins | 0.700 | 1.000 | 9 | 2002 | 2013 | ||||||
|
2 | 1.000 | X | 8731936 | frameshift variant | -/AGCAGCCGCGC | delins | 0.700 | 1.000 | 7 | 1991 | 2014 | ||||||
|
2 | 1.000 | 12 | 49033147 | frameshift variant | -/AGCCTGTGTCC | delins | 0.700 | 1.000 | 25 | 1988 | 2017 | ||||||
|
2 | 1.000 | 1 | 235448437 | stop gained | -/AGTAA | delins | 2.0E-05 | 6.3E-05 | 0.700 | 1.000 | 6 | 1991 | 2016 | ||||
|
3 | 0.925 | 0.040 | X | 19359619 | frameshift variant | -/ATCA | delins | 0.700 | 1.000 | 10 | 1995 | 2016 | |||||
|
3 | 1.000 | 17 | 31330303 | frameshift variant | -/C | delins | 0.700 | 1.000 | 34 | 1967 | 2017 | ||||||
|
3 | 1.000 | X | 53985131 | frameshift variant | -/C | delins | 0.700 | 1.000 | 7 | 2005 | 2014 | ||||||
|
1 | 2 | 120982843 | frameshift variant | -/C | delins | 0.700 | 1.000 | 5 | 2003 | 2013 | |||||||
|
2 | 1.000 | 2 | 232540049 | frameshift variant | -/C | delins | 0.700 | 1.000 | 5 | 2006 | 2016 | ||||||
|
3 | 0.925 | 17 | 50354465 | frameshift variant | -/C | delins | 0.700 | 1.000 | 4 | 2015 | 2018 | ||||||
|
1 | 8 | 60845364 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 1.000 | 12 | 49022591 | frameshift variant | -/G | delins | 0.700 | 1.000 | 25 | 1988 | 2017 | ||||||
|
3 | 1.000 | 6 | 157201481 | frameshift variant | -/G | delins | 0.700 | 1.000 | 20 | 1984 | 2017 | ||||||
|
2 | 1.000 | 1 | 183286706 | frameshift variant | -/G | delins | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 13 | 2002 | 2016 | |||||
|
2 | 1.000 | 10 | 127042665 | frameshift variant | -/G | delins | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 10 | 1988 | 2017 | |||||
|
1 | 17 | 18146034 | frameshift variant | -/G | delins | 0.700 | 1.000 | 6 | 1995 | 2016 | |||||||
|
1 | 15 | 91006391 | frameshift variant | -/G | delins | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 5 | 2004 | 2015 | |||||
|
2 | 1.000 | X | 64919152 | frameshift variant | -/G | delins | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||
|
1 | 10 | 71646592 | frameshift variant | -/G | delins | 0.700 | 1.000 | 2 | 2001 | 2001 | |||||||
|
4 | 0.925 | 17 | 59677123 | frameshift variant | -/GA | delins | 0.700 | 1.000 | 23 | 1976 | 2017 |