rs397514042
|
|
1.000 |
0.080 |
18 |
31087815 |
splice acceptor variant
|
T/C
|
snv
|
1.6E-05
|
1.4E-05
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
1.000 |
3 |
2009 |
2013 |
rs397517408
|
|
1.000 |
0.080 |
18 |
31093617 |
frameshift variant
|
G/-
|
del
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.700 |
1.000 |
3 |
2010 |
2016 |
rs794728072
|
|
1.000 |
0.080 |
18 |
31071604 |
splice donor variant
|
C/-
|
del
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
1.000 |
3 |
2009 |
2013 |
rs777688726
|
|
1.000 |
0.080 |
18 |
31082969 |
missense variant
|
A/G
|
snv
|
8.0E-06
|
3.5E-05
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.700 |
1.000 |
2 |
2019 |
2019 |
rs1555639134
|
|
1.000 |
0.080 |
18 |
31083007 |
stop gained
|
A/C
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs397517404
|
|
0.925 |
0.080 |
18 |
31086694 |
missense variant
|
G/A;T
|
snv
|
1.6E-05
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs397517406
|
|
1.000 |
0.080 |
18 |
31086672 |
stop gained
|
G/C;T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs769022411
|
|
1.000 |
0.080 |
18 |
31070776 |
stop gained
|
G/A
|
snv
|
4.0E-06
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1060502989
|
|
1.000 |
0.080 |
18 |
31086635 |
frameshift variant
|
-/T
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
|
0 |
|
|
rs1395367133
|
|
1.000 |
0.080 |
18 |
31101937 |
frameshift variant
|
CC/-
|
del
|
|
7.0E-06
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
|
0 |
|
|
rs145476705
|
|
0.925 |
0.080 |
18 |
31087781 |
stop gained
|
A/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.700 |
|
0 |
|
|
rs145476705
|
|
0.925 |
0.080 |
18 |
31087781 |
stop gained
|
A/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
|
0 |
|
|
rs1567971476
|
|
1.000 |
0.080 |
18 |
31068939 |
stop gained
|
G/T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
|
0 |
|
|
rs193922708
|
|
|
|
18 |
31086683 |
missense variant
|
G/A;T
|
snv
|
4.8E-05
|
|
Cardiomyopathies
|
0.700 |
|
0 |
|
|
rs377272752
|
|
1.000 |
0.080 |
18 |
31069032 |
inframe deletion
|
CCT/-
|
delins
|
|
5.2E-04
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.700 |
|
0 |
|
|
rs397514041
|
|
1.000 |
0.080 |
18 |
31080186 |
frameshift variant
|
G/-
|
del
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
|
0 |
|
|
rs397514043
|
|
1.000 |
|
18 |
31074730 |
frameshift variant
|
C/-
|
del
|
|
|
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
|
0.700 |
|
0 |
|
|
rs397517393
|
|
1.000 |
0.080 |
18 |
31093558 |
splice donor variant
|
C/T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.700 |
|
0 |
|
|
rs397517408
|
|
1.000 |
0.080 |
18 |
31093617 |
frameshift variant
|
G/-
|
del
|
|
|
Cardiomyopathies
|
0.700 |
|
0 |
|
|
rs746173561
|
|
1.000 |
0.080 |
18 |
31087695 |
missense variant
|
A/G
|
snv
|
4.0E-06;
4.0E-06
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
|
0 |
|
|
rs796756333
|
|
1.000 |
0.080 |
18 |
31083061 |
splice acceptor variant
|
C/T
|
snv
|
|
2.1E-05
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
|
0 |
|
|
rs878853170
|
|
1.000 |
|
18 |
31079850 |
stop gained
|
G/A
|
snv
|
4.0E-06
|
|
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA
|
0.700 |
|
0 |
|
|