rs367785431
|
1.000 |
0.080 |
1 |
201359221 |
missense variant |
G/A;T
|
snv
|
2.5E-05
|
7.0E-06
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
14 |
1994 |
2012 |
rs886039053
|
1.000 |
0.080 |
1 |
201365666 |
missense variant |
A/G
|
snv
|
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
13 |
1994 |
2012 |
rs45466197
|
1.000 |
0.080 |
1 |
201361327 |
missense variant |
C/A
|
snv
|
2.2E-04
|
7.0E-05
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs863225120
|
1.000 |
0.080 |
1 |
201361970 |
missense variant |
A/G
|
snv
|
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs111377893
|
0.925 |
0.080 |
1 |
201359622 |
splice donor variant |
C/A;G;T
|
snv
|
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs727503513
|
0.925 |
0.080 |
1 |
201365292 |
missense variant |
G/A
|
snv
|
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs45578238
|
0.882 |
0.080 |
1 |
201361971 |
inframe deletion |
CTT/-
|
delins
|
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
13 |
2000 |
2013 |
rs397516471
|
0.882 |
0.080 |
1 |
201363348 |
missense variant |
C/T
|
snv
|
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2010 |
2013 |
rs121964860
|
0.882 |
0.080 |
1 |
201361988 |
missense variant |
C/A;G;T
|
snv
|
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs863225119
|
0.882 |
0.080 |
1 |
201359632 |
missense variant |
T/A
|
snv
|
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.800 |
1.000 |
1 |
2011 |
2011 |
rs1558225569
|
0.882 |
0.080 |
1 |
201363379 |
missense variant |
C/T
|
snv
|
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121964855
|
0.851 |
0.080 |
1 |
201365638 |
missense variant |
A/T
|
snv
|
4.0E-06
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.800 |
1.000 |
21 |
1994 |
2013 |
rs397516457
|
0.851 |
0.080 |
1 |
201365291 |
missense variant |
C/A;T
|
snv
|
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.800 |
1.000 |
20 |
1991 |
2017 |
rs397516463
|
0.851 |
0.080 |
1 |
201364369 |
missense variant |
G/A
|
snv
|
|
1.4E-05
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.800 |
1.000 |
19 |
1994 |
2014 |
rs397516484
|
0.851 |
0.080 |
1 |
201359244 |
missense variant |
C/G;T
|
snv
|
1.2E-05
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.800 |
1.000 |
19 |
1994 |
2014 |
rs121964857
|
0.851 |
0.080 |
1 |
201359245 |
missense variant |
G/A
|
snv
|
3.6E-04
|
4.3E-04
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.800 |
1.000 |
13 |
1994 |
2012 |
rs200754249
|
0.851 |
0.080 |
1 |
201368212 |
missense variant |
G/A;T
|
snv
|
4.5E-04;
4.0E-06
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
13 |
1994 |
2012 |
rs397516470
|
0.851 |
0.080 |
1 |
201363377 |
inframe deletion |
CTC/-
|
delins
|
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
9 |
1995 |
2016 |
rs74315380
|
0.851 |
0.080 |
1 |
201364366 |
missense variant |
G/A;C
|
snv
|
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
7 |
2004 |
2013 |
rs397516455
|
0.851 |
0.080 |
1 |
201365617 |
missense variant |
T/G
|
snv
|
4.0E-06
|
7.0E-06
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
2003 |
2017 |
rs727504245
|
0.851 |
0.080 |
1 |
201365261 |
missense variant |
G/A
|
snv
|
1.6E-05
|
2.1E-05
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.800 |
1.000 |
6 |
1997 |
2017 |
rs730881116
|
0.851 |
0.080 |
1 |
201359216 |
stop gained |
C/T
|
snv
|
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2003 |
2013 |
rs727503512
|
0.851 |
0.080 |
1 |
201363349 |
missense variant |
G/A;C;T
|
snv
|
4.0E-06
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2012 |
2013 |
rs397516456
|
0.827 |
0.080 |
1 |
201365298 |
missense variant |
G/A
|
snv
|
4.0E-06
|
1.4E-05
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.800 |
1.000 |
22 |
1994 |
2016 |
rs74315379
|
0.827 |
0.080 |
1 |
201364336 |
missense variant |
G/A;T
|
snv
|
1.2E-04
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
10 |
2001 |
2015 |