rs1236464864
|
0.882 |
0.120 |
6 |
7580585 |
stop gained |
T/C;G
|
snv
|
|
1.4E-05
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1238227166
|
1.000 |
0.080 |
6 |
7565500 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1249913357
|
1.000 |
0.080 |
6 |
7567367 |
frameshift variant |
CT/-
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1267435790
|
0.925 |
0.120 |
6 |
7570444 |
stop gained |
C/G;T
|
snv
|
1.2E-05
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1267435790
|
0.925 |
0.120 |
6 |
7570444 |
stop gained |
C/G;T
|
snv
|
1.2E-05
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1394836623
|
0.925 |
0.120 |
6 |
7581511 |
frameshift variant |
AGAG/-;AG
|
delins
|
|
1.4E-05
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1394836623
|
0.925 |
0.120 |
6 |
7581511 |
frameshift variant |
AGAG/-;AG
|
delins
|
|
1.4E-05
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs140474226
|
0.882 |
0.120 |
6 |
7580370 |
stop gained |
C/T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs148894066
|
|
|
6 |
7579697 |
stop gained |
C/A;T
|
snv
|
1.4E-04
|
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554105614
|
1.000 |
0.080 |
6 |
7555773 |
stop gained |
C/T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554105614
|
1.000 |
0.080 |
6 |
7555773 |
stop gained |
C/T
|
snv
|
|
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554105911
|
1.000 |
0.080 |
6 |
7559267 |
frameshift variant |
C/-
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554107096
|
1.000 |
|
6 |
7571534 |
missense variant |
A/C
|
snv
|
|
|
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
|
|
0.700 |
|
0 |
|
|
rs1554107098
|
1.000 |
|
6 |
7571546 |
missense variant |
T/C;G
|
snv
|
|
|
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
|
|
0.700 |
|
0 |
|
|
rs1554107839
|
1.000 |
0.080 |
6 |
7577848 |
frameshift variant |
AC/-
|
del
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554107916
|
1.000 |
0.080 |
6 |
7578521 |
frameshift variant |
-/GGTT
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554108012
|
0.882 |
0.120 |
6 |
7579323 |
stop gained |
C/T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554108012
|
0.882 |
0.120 |
6 |
7579323 |
stop gained |
C/T
|
snv
|
|
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554108050
|
0.925 |
0.120 |
6 |
7579431 |
stop gained |
G/T
|
snv
|
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554108050
|
0.925 |
0.120 |
6 |
7579431 |
stop gained |
G/T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554108152
|
0.882 |
0.120 |
6 |
7579922 |
frameshift variant |
-/AAATCGA
|
delins
|
|
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554108152
|
0.882 |
0.120 |
6 |
7579922 |
frameshift variant |
-/AAATCGA
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554108152
|
0.882 |
0.120 |
6 |
7579922 |
frameshift variant |
-/AAATCGA
|
delins
|
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554108152
|
0.882 |
0.120 |
6 |
7579922 |
frameshift variant |
-/AAATCGA
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554108172
|
0.925 |
0.080 |
6 |
7579983 |
stop gained |
G/T
|
snv
|
|
|
Ventricular arrhythmia
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|