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 | 1 | 219927981 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 219927949 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 219927888 | frameshift variant | GGCTGTCGGGTCCGCCGCGCGCCGCGGGTCCTCCGCGCCCTGAGGCCCCCCGAAAGCG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 219928039 | inframe deletion | AGCAGCCCCACCACGTTGACCAACAGCCCCAGGACGCCGACGATGAGCACCAGCTCGGGGTCATCGATGCGCTCGGGCCGGGCCAGGCGCAGCACGGCCTCCACGAAGATG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 219928175 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 219928119 | inframe deletion | GGGCCGGGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 219927941 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 219927934 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 219927856 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 219918446 | inframe deletion | CAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 219918291 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 219915861 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 219915672 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 219915901 | missense variant | G/A | snv | 0.700 | 0 |