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 | 14 | 64767300 | splice region variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 64767686 | frameshift variant | -/AA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 64767691 | missense variant | C/G;T | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 14 | 64767725 | missense variant | C/G | snv | 8.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 4 | 1990 | 1995 | ||||||
|
1.000 | 0.080 | 14 | 64767745 | frameshift variant | -/TC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 64767787 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 64767787 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 64767787 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 64767787 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 64767787 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 14 | 64767808 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 1990 | 1995 | ||||||||
|
0.925 | 0.080 | 14 | 64767808 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 14 | 64767812 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 14 | 64767814 | missense variant | G/A;T | snv | 4.8E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 1990 | 1995 | |||||||
|
0.925 | 0.080 | 14 | 64767827 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 1990 | 1995 | ||||||||
|
0.925 | 0.080 | 14 | 64767827 | missense variant | A/G | snv |
|
0.700 | 1.000 | 2 | 1995 | 1996 | |||||||||
|
0.925 | 0.080 | 14 | 64767829 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 4 | 1990 | 1995 | ||||||||
|
0.925 | 0.080 | 14 | 64767829 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 14 | 64770879 | splice donor variant | ACCTGGGCCTC/- | delins |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 14 | 64771060 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 14 | 64772678 | stop gained | C/A;T | snv | 1.0E-04; 1.2E-05 |
|
0.700 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
1.000 | 14 | 64772867 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
14 | 64774231 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
14 | 64774231 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1.000 | 14 | 64774392 | splice region variant | C/T | snv |
|
0.700 | 0 |