rs1007534611
|
1.000 |
0.120 |
4 |
5809612 |
splice donor variant |
G/T
|
snv
|
4.0E-06
|
2.1E-05
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1169539647
|
1.000 |
0.120 |
4 |
5809611 |
splice donor variant |
G/-
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121908424
|
1.000 |
0.120 |
4 |
5808274 |
stop gained |
C/T
|
snv
|
1.2E-05
|
2.1E-05
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1300178432
|
1.000 |
0.120 |
4 |
5756258 |
splice acceptor variant |
CAGGCTTTTCA/-
|
delins
|
|
7.0E-06
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1363547577
|
1.000 |
0.120 |
4 |
5729306 |
splice acceptor variant |
G/A
|
snv
|
4.0E-06
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1373632260
|
1.000 |
0.120 |
4 |
5793699 |
missense variant |
T/C
|
snv
|
6.4E-06
|
7.0E-06
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1437174284
|
1.000 |
0.120 |
4 |
5731432 |
frameshift variant |
C/-
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1446547358
|
0.925 |
0.160 |
4 |
5798724 |
stop gained |
C/T
|
snv
|
4.1E-06
|
1.4E-05
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs146475474
|
1.000 |
0.120 |
4 |
5798662 |
frameshift variant |
-/C
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1485152854
|
1.000 |
0.120 |
4 |
5741715 |
splice acceptor variant |
G/A;C
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs149898884
|
1.000 |
0.120 |
4 |
5756299 |
missense variant |
G/A
|
snv
|
3.9E-04
|
1.6E-03
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs150814290
|
1.000 |
0.120 |
4 |
5745203 |
splice acceptor variant |
G/C
|
snv
|
4.0E-06
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553857828
|
1.000 |
0.120 |
4 |
5711404 |
frameshift variant |
C/-
|
del
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553857995
|
1.000 |
0.120 |
4 |
5711514 |
stop gained |
G/A
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553865346
|
1.000 |
0.120 |
4 |
5729390 |
splice region variant |
G/T
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553867117
|
1.000 |
0.120 |
4 |
5733430 |
frameshift variant |
-/A
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553867138
|
1.000 |
0.120 |
4 |
5733436 |
splice donor variant |
G/A
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553871764
|
1.000 |
0.120 |
4 |
5741729 |
frameshift variant |
T/-
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553871866
|
1.000 |
0.120 |
4 |
5741816 |
splice donor variant |
T/G
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553873138
|
1.000 |
0.120 |
4 |
5745342 |
splice donor variant |
G/C
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553876034
|
1.000 |
0.120 |
4 |
5753871 |
frameshift variant |
-/GAACAGAGAAG
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553876813
|
1.000 |
0.120 |
4 |
5756271 |
frameshift variant |
-/T
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553876870
|
1.000 |
0.120 |
4 |
5756352 |
frameshift variant |
-/A
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553886849
|
1.000 |
0.120 |
4 |
5783550 |
splice acceptor variant |
A/G
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553891368
|
1.000 |
0.120 |
4 |
5797233 |
splice donor variant |
G/T
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|