rs1057521648
|
1.000 |
0.120 |
9 |
127818341 |
stop gained |
G/A
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060501412
|
1.000 |
0.120 |
9 |
127818720 |
frameshift variant |
ACAAAGCTCT/-
|
del
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060501413
|
1.000 |
0.120 |
9 |
127818817 |
frameshift variant |
G/-
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060501418
|
1.000 |
0.120 |
9 |
127854355 |
start lost |
T/C;G
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060501419
|
1.000 |
0.120 |
9 |
127824887 |
stop gained |
C/A
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060501421
|
1.000 |
0.120 |
9 |
127818160 |
missense variant |
C/T
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060501422
|
1.000 |
0.120 |
9 |
127819973 |
frameshift variant |
C/-
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1064792934
|
1.000 |
0.120 |
9 |
127824378 |
frameshift variant |
GCTCCGGGCTACAAGTGTCCTTGGGAGGAGTG/CCACCAT
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1064794220
|
1.000 |
0.120 |
9 |
127825332 |
stop gained |
C/A
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121918400
|
0.925 |
0.120 |
9 |
127824960 |
stop gained |
G/A;C;T
|
snv
|
8.0E-06
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1440769928
|
1.000 |
0.120 |
9 |
127825763 |
stop gained |
G/A;T
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1452543778
|
1.000 |
0.120 |
9 |
127825701 |
stop gained |
G/A;T
|
snv
|
9.8E-06
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554809229
|
1.000 |
0.120 |
9 |
127818122 |
frameshift variant |
AGACCCGGTCTTG/-
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554809268
|
1.000 |
0.120 |
9 |
127818265 |
frameshift variant |
C/-
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554809348
|
1.000 |
0.120 |
9 |
127818749 |
frameshift variant |
-/T
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554809446
|
1.000 |
0.120 |
9 |
127819620 |
splice region variant |
-/C
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554809455
|
1.000 |
0.120 |
9 |
127819646 |
frameshift variant |
-/A
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554809513
|
1.000 |
0.120 |
9 |
127819937 |
missense variant |
C/T
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554810037
|
1.000 |
0.120 |
9 |
127824313 |
frameshift variant |
CT/-
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554810041
|
1.000 |
0.120 |
9 |
127824326 |
frameshift variant |
-/C
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554810177
|
1.000 |
0.120 |
9 |
127824886 |
frameshift variant |
-/C
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554810272
|
1.000 |
0.120 |
9 |
127825358 |
splice acceptor variant |
C/T
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554810408
|
0.925 |
0.120 |
9 |
127825792 |
inframe deletion |
CGCCACTCGAGC/-
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554810921
|
1.000 |
0.120 |
9 |
127829803 |
frameshift variant |
G/-
|
del
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554810928
|
1.000 |
0.120 |
9 |
127829818 |
frameshift variant |
G/-
|
del
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|