rs1554045819
|
1.000 |
0.120 |
5 |
87341293 |
frameshift variant |
-/G
|
delins
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1347210621
|
1.000 |
0.120 |
5 |
87377028 |
frameshift variant |
-/T
|
delins
|
|
7.0E-06
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554049825
|
1.000 |
0.120 |
5 |
87379801 |
frameshift variant |
-/T
|
delins
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs878854569
|
1.000 |
0.120 |
5 |
87379775 |
frameshift variant |
-/T
|
delins
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs878854570
|
1.000 |
0.120 |
5 |
87386886 |
frameshift variant |
-/TTTTA
|
delins
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554050584
|
1.000 |
0.120 |
5 |
87386850 |
frameshift variant |
C/-
|
delins
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs747745016
|
1.000 |
0.120 |
5 |
87369861 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554044823
|
0.882 |
0.120 |
5 |
87331464 |
stop gained |
C/G
|
snv
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554050230
|
1.000 |
0.120 |
5 |
87383729 |
stop gained |
C/T
|
snv
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2013 |
2016 |
rs1204340475
|
0.925 |
0.120 |
5 |
87376941 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1060503440
|
1.000 |
0.120 |
5 |
87389522 |
stop gained |
C/T
|
snv
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060503439
|
1.000 |
0.120 |
5 |
87362573 |
frameshift variant |
CA/-
|
delins
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554051094
|
1.000 |
0.120 |
5 |
87390845 |
frameshift variant |
CAAA/-
|
delins
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1060503441
|
1.000 |
0.120 |
5 |
87331417 |
frameshift variant |
CTTAT/-
|
delins
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs983011713
|
1.000 |
0.120 |
5 |
87379851 |
splice donor variant |
G/A
|
snv
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2008 |
2013 |
rs1060503438
|
1.000 |
0.120 |
5 |
87385390 |
splice donor variant |
G/A
|
snv
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1561333645
|
1.000 |
0.120 |
5 |
87389510 |
stop gained |
G/T
|
snv
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2013 |
2018 |
rs1561331089
|
1.000 |
0.120 |
5 |
87386842 |
frameshift variant |
GT/-
|
delins
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1561316757
|
1.000 |
0.120 |
5 |
87369902 |
splice donor variant |
T/C
|
snv
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs201249348
|
1.000 |
0.120 |
5 |
87374837 |
splice region variant |
T/C;G
|
snv
|
3.0E-04
|
3.8E-04
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|