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 | 13 | 48381393 | missense variant | C/T | snv | 7.0E-06 |
|
Neoplasms; Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 13 | 48459756 | stop gained | G/T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48373494 | splice donor variant | T/G | snv |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48463818 | frameshift variant | CCTC/- | del |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48367521 | stop gained | G/T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48377030 | stop gained | C/A | snv |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48379651 | splice donor variant | G/T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48452981 | intron variant | T/G | snv |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48303948 | frameshift variant | GCCGCCGCTGCCGCCGCGGAACCCCCGGC/- | delins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48453001 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48453001 | frameshift variant | T/- | delins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48342714 | missense variant | G/A;C | snv |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
13 | 48459782 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
13 | 48303931 | frameshift variant | CGA/GG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
13 | 48362829 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
13 | 48362941 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 13 | 48379606 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48303925 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
13 | 48304050 | splice donor variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
13 | 48381247 | frameshift variant | GTACATCTCAGAA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
13 | 48459832 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 13 | 48367493 | splice acceptor variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
13 | 48368538 | frameshift variant | GA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
13 | 48342611 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
13 | 48465343 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 |