| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | X | 100407591 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 16 | 2008 | 2017 | ||||||||||
|
0.925 | 13 | 101061967 | splice donor variant | C/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 9 | 2013 | 2017 | |||||||||
|
13 | 101062119 | splice acceptor variant | C/G | snv |
|
0.700 | 1.000 | 9 | 2013 | 2017 | |||||||||||
|
0.925 | X | 101412604 | missense variant | C/T | snv |
|
0.700 | 1.000 | 3 | 2014 | 2016 | ||||||||||
|
0.925 | 0.160 | 12 | 101764957 | frameshift variant | TA/- | del | 4.0E-06 |
|
0.700 | 1.000 | 9 | 2005 | 2016 | ||||||||
|
0.882 | 0.080 | 14 | 101986017 | missense variant | C/T | snv |
|
0.700 | 1.000 | 18 | 1998 | 2018 | |||||||||
|
0.925 | 0.080 | 14 | 101986027 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 14 | 101994794 | missense variant | T/C | snv |
|
0.700 | 1.000 | 18 | 1998 | 2018 | ||||||||||
|
0.882 | 14 | 102010824 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102917066 | splice region variant | C/A;T | snv | 7.2E-05 |
|
0.700 | 1.000 | 17 | 1993 | 2015 | ||||||||
|
0.925 | 0.080 | X | 103776997 | start lost | T/C;G | snv |
|
0.700 | 1.000 | 12 | 1989 | 2016 | |||||||||
|
0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.080 | 4 | 106194717 | splice donor variant | C/A;T | snv | 4.3E-06; 8.7E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | X | 107640936 | missense variant | A/G | snv |
|
0.700 | 1.000 | 12 | 1993 | 2015 | |||||||||
|
1.000 | 12 | 109511304 | splice donor variant | G/A;T | snv |
|
0.700 | 1.000 | 8 | 2003 | 2018 | ||||||||||
|
1.000 | 0.080 | 6 | 109760253 | stop gained | C/T | snv | 3.6E-05 | 8.4E-05 |
|
0.700 | 1.000 | 7 | 1993 | 2015 | |||||||
|
6 | 109792665 | splice donor variant | G/A | snv | 8.0E-06 | 2.8E-05 |
|
0.700 | 1.000 | 7 | 1993 | 2015 | |||||||||
|
0.882 | 0.120 | 12 | 109798819 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
13 | 110170615 | missense variant | C/T | snv |
|
0.700 | 1.000 | 18 | 1984 | 2015 | |||||||||||
|
13 | 110176450 | missense variant | C/T | snv |
|
0.700 | 1.000 | 18 | 1984 | 2015 | |||||||||||
|
1.000 | 13 | 110181389 | missense variant | C/T | snv |
|
0.700 | 1.000 | 18 | 1984 | 2015 | ||||||||||
|
3 | 11025543 | missense variant | T/C | snv |
|
0.700 | 1.000 | 6 | 1998 | 2016 | |||||||||||
|
0.925 | 3 | 11025786 | missense variant | C/T | snv |
|
0.700 | 1.000 | 6 | 1998 | 2016 | ||||||||||
|
1.000 | 3 | 11028845 | stop gained | C/T | snv |
|
0.700 | 1.000 | 6 | 1998 | 2016 |