rs151340631
|
0.925 |
0.240 |
X |
78011216 |
stop gained |
C/G;T
|
snv
|
|
|
Cutis laxa, x-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
5 |
1997 |
2012 |
rs151340632
|
0.925 |
0.240 |
X |
78042694 |
missense variant |
A/G
|
snv
|
|
|
Cutis laxa, x-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
5 |
1997 |
2012 |
rs1557236762
|
0.925 |
0.240 |
X |
78029445 |
splice donor variant |
G/A
|
snv
|
|
|
Cutis laxa, x-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1557237451
|
0.882 |
0.240 |
X |
78033783 |
stop gained |
C/A
|
snv
|
|
|
Cutis laxa, x-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1557238665
|
0.882 |
0.240 |
X |
78043316 |
splice acceptor variant |
G/A
|
snv
|
|
|
Cutis laxa, x-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1569549699
|
0.882 |
0.240 |
X |
77998678 |
stop gained |
G/T
|
snv
|
|
|
Cutis laxa, x-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1569549974
|
0.882 |
0.240 |
X |
78014722 |
frameshift variant |
G/-
|
del
|
|
|
Cutis laxa, x-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1569550376
|
1.000 |
0.160 |
X |
78046417 |
frameshift variant |
G/-
|
delins
|
|
|
Cutis laxa, x-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs797045332
|
0.882 |
0.240 |
X |
78003168 |
stop gained |
C/T
|
snv
|
|
|
Cutis laxa, x-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs797045397
|
0.882 |
0.240 |
X |
77988541 |
frameshift variant |
AG/-
|
delins
|
|
|
Cutis laxa, x-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|