rs1194358112
|
0.925 |
0.120 |
6 |
7584502 |
stop gained |
G/C;T
|
snv
|
4.0E-06
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121912997
|
0.925 |
0.160 |
6 |
7579989 |
stop gained |
C/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 |
|
|
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
|
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
|
|
|
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
|
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554108410
|
0.882 |
0.120 |
6 |
7581072 |
frameshift variant |
AGGAG/TTCT
|
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 |
|
|
rs1554108431
|
0.882 |
0.120 |
6 |
7581189 |
stop gained |
C/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 |
|
|
rs1554108477
|
0.882 |
0.120 |
6 |
7581459 |
stop gained |
C/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 |
|
|
rs1554108609
|
0.925 |
0.120 |
6 |
7582719 |
frameshift variant |
-/A
|
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 |
|
|
rs1561680649
|
0.925 |
0.120 |
6 |
7558171 |
stop gained |
GT/AA
|
mnv
|
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1561687796
|
0.925 |
0.120 |
6 |
7568448 |
frameshift variant |
-/A
|
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 |
|
|
rs1561693779
|
0.925 |
0.120 |
6 |
7575355 |
stop gained |
C/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 |
|
|
rs1561694696
|
0.925 |
0.120 |
6 |
7576388 |
stop gained |
C/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 |
|
|
rs1561696970
|
0.925 |
0.120 |
6 |
7579316 |
frameshift variant |
AC/T
|
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 |
|
|
rs1561697181
|
0.925 |
0.120 |
6 |
7579479 |
frameshift variant |
-/TA
|
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 |
|
|
rs1561698362
|
0.925 |
0.120 |
6 |
7580225 |
frameshift variant |
ATGAA/-
|
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 |
|
|
rs1561698750
|
0.925 |
0.120 |
6 |
7580547 |
stop gained |
C/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 |
|
|
rs1561702771
|
0.925 |
0.120 |
6 |
7583843 |
frameshift variant |
CA/-
|
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 |
|
|
rs28763965
|
0.925 |
0.120 |
6 |
7580562 |
stop gained |
C/A;G;T
|
snv
|
8.0E-06;
1.7E-03;
4.0E-06
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397514039
|
1.000 |
0.120 |
6 |
7584884 |
frameshift variant |
G/-;GG
|
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 |
|
|
rs397514045
|
1.000 |
0.120 |
6 |
7585040 |
frameshift variant |
T/-
|
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 |
|
|
rs397516940
|
0.882 |
0.120 |
6 |
7580721 |
stop gained |
C/T
|
snv
|
2.0E-05
|
7.0E-06
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs606231295
|
0.925 |
0.120 |
6 |
7570553 |
missense variant |
C/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 |
|
|
rs730880082
|
0.882 |
0.120 |
6 |
7576986 |
stop gained |
C/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 |
|
|