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 | 0.040 | 11 | 2885456 | start lost | T/G | snv | 0.700 | 1.000 | 2 | 1999 | 2015 | |||||
|
1 | 1.000 | 0.040 | 11 | 2885332 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 1999 | 2015 | |||||
|
1 | 1.000 | 0.040 | 11 | 2885281 | missense variant | G/A;T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 1999 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 2885018 | missense variant | G/C | snv | 0.700 | 1.000 | 2 | 1999 | 2015 | |||||
|
1 | 1.000 | 0.040 | 11 | 2884750 | stop gained | G/A;T | snv | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.040 | 11 | 2885351 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2884727 | frameshift variant | CGGTGCCGGCCG/GCAC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2884854 | frameshift variant | -/GCGGGGGCCGGGGCCGGGGCCGGGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2885099 | frameshift variant | TCGAGGCC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2885294 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2885300 | frameshift variant | -/CCAGCTGGAA | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2884784 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2884817 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2884843 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2884110 | stop gained | G/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2885179 | frameshift variant | AG/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2883997 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2885041 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2885156 | frameshift variant | -/G | delins | 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 11 | 2885089 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2884855 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2884859 | frameshift variant | C/TT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2884846 | frameshift variant | GCCG/CCC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2884860 | frameshift variant | -/AGCGGGGCCGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 2884796 | stop gained | G/A | snv | 0.700 | 0 |