CDC73, cell division cycle 73, 79577
N. diseases: 144; N. variants: 31
Source: ALL
| Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 1 | 193142016 | frameshift variant | AGAG/-;AGAGAG | delins |
|
Neoplasms; Endocrine System Diseases | 0.700 | 1.000 | 3 | 2002 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 193135542 | stop gained | C/T | snv |
|
Neoplasms; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 193122201 | start lost | A/G | snv |
|
Neoplasms; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 1 | 193122209 | frameshift variant | -/GCTTAGCGTCCTGCGACAGT | delins |
|
Neoplasms; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 1 | 193130178 | frameshift variant | A/- | delins |
|
Neoplasms; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 193142067 | splice donor variant | G/T | snv |
|
Neoplasms; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 193138111 | frameshift variant | GA/- | delins |
|
Neoplasms; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 193122203 | frameshift variant | G/- | delins |
|
Neoplasms; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 193122328 | stop gained | G/A | snv |
|
Neoplasms; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 1 | 193125142 | stop gained | C/G | snv |
|
Neoplasms; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 193138141 | frameshift variant | -/A | delins |
|
Neoplasms; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 193138166 | stop gained | C/T | snv |
|
Neoplasms; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 193212082 | frameshift variant | C/- | delins |
|
Neoplasms; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 193122253 | frameshift variant | TT/- | del |
|
Neoplasms; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 193122282 | frameshift variant | G/- | delins |
|
Neoplasms; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 193122212 | inframe deletion | CTTAGCGTCCTGCGACAG/- | delins |
|
Neoplasms; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 193125218 | splice donor variant | G/C;T | snv |
|
Neoplasms; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 1 | 193142016 | frameshift variant | -/AG | ins | 4.0E-06 |
|
Neoplasms; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.080 | 1 | 193125171 | missense variant | T/C | snv |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 |