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 | 0.120 | 9 | 21974721 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 9 | 21971115 | frameshift variant | CGGGTCGGGTGAGAGTGGC/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 9 | 21971115 | frameshift variant | CGGGTCGGGTGAGAGTGGC/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 9 | 21974796 | start lost | GGCTCCATGCTGCTCCCCGCCGCC/-;GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC | delins | 1.5E-04 |
|
0.700 | 0 | |||||||||||
|
9 | 21974781 | protein altering variant | -/GCC | delins |
|
0.700 | 0 | ||||||||||||||
|
0.882 | 0.200 | 9 | 21971100 | missense variant | G/A | snv | 8.6E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 9 | 21971100 | missense variant | G/A | snv | 8.6E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 9 | 21971063 | missense variant | C/A;G;T | snv | 4.3E-06; 8.5E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 9 | 21974686 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 9 | 21971147 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 9 | 21971147 | frameshift variant | TGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 9 | 21971156 | missense variant | GC/AA | mnv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 9 | 21971025 | missense variant | G/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 9 | 21974677 | splice donor variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 9 | 21971099 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 |
|
0.700 | 1.000 | 19 | 1995 | 2015 | ||||||||
|
0.827 | 0.120 | 9 | 21971200 | missense variant | C/G;T | snv | 9.0E-06 |
|
0.700 | 1.000 | 16 | 1995 | 2010 | ||||||||
|
0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 |
|
0.700 | 1.000 | 16 | 1995 | 2015 | ||||||||
|
1.000 | 0.120 | 9 | 21971116 | frameshift variant | GTGAGAGTGGCGGGGTCGG/- | delins |
|
0.700 | 1.000 | 15 | 1995 | 2015 | |||||||||
|
0.925 | 0.120 | 9 | 21974733 | missense variant | A/G | snv |
|
0.700 | 1.000 | 15 | 1995 | 2010 | |||||||||
|
0.882 | 0.160 | 9 | 21974682 | missense variant | A/C;G | snv | 6.3E-04 |
|
0.700 | 1.000 | 14 | 1994 | 2016 | ||||||||
|
1.000 | 0.120 | 9 | 21971021 | inframe insertion | -/ACG | delins | 1.3E-05 |
|
0.700 | 1.000 | 14 | 1996 | 2016 | ||||||||
|
0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 |
|
0.700 | 1.000 | 13 | 1998 | 2016 | ||||||||
|
0.851 | 0.240 | 9 | 21974861 | 5 prime UTR variant | C/A;G;T | snv | 4.3E-05; 6.1E-05; 8.7E-06 |
|
0.700 | 1.000 | 13 | 1999 | 2016 | ||||||||
|
0.925 | 0.120 | 9 | 21974796 | start lost | GGCTCCATGCTGCTCCCCGCCGCC/-;GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC | delins | 1.5E-04 |
|
0.700 | 1.000 | 13 | 1995 | 2015 |