rs397516662
|
1.000 |
0.080 |
X |
69957087 |
missense variant |
C/T
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
25 |
1996 |
2016 |
rs397516677
|
1.000 |
0.080 |
X |
70033475 |
missense variant |
G/A
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
22 |
1996 |
2016 |
rs397516679
|
1.000 |
0.080 |
X |
70033499 |
missense variant |
G/A
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
21 |
1996 |
2016 |
rs727504649
|
1.000 |
0.080 |
X |
69957104 |
missense variant |
A/C
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
21 |
1996 |
2016 |
rs879255552
|
1.000 |
0.080 |
X |
70030482 |
missense variant |
A/T
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
20 |
1996 |
2016 |
rs132630314
|
1.000 |
0.080 |
X |
69957097 |
missense variant |
G/A;T
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
18 |
1998 |
2013 |
rs132630312
|
0.807 |
0.120 |
X |
69957093 |
missense variant |
C/T
|
snv
|
|
1.9E-05
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
12 |
1998 |
2016 |
rs132630313
|
1.000 |
0.080 |
X |
69957096 |
missense variant |
C/T
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
1998 |
2011 |
rs397516665
|
1.000 |
0.080 |
X |
70027866 |
inframe deletion |
TGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCC/-
|
delins
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
1998 |
2016 |
rs876657686
|
1.000 |
0.080 |
X |
70027979 |
inframe deletion |
CAGGTCCTCCTGGTCCTC/-
|
delins
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
5 |
1998 |
2016 |
rs397516659
|
1.000 |
0.080 |
X |
69616310 |
start lost |
T/C
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
2001 |
2011 |
rs397516666
|
1.000 |
0.080 |
X |
70027877 |
inframe deletion |
AATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCC/-
|
delins
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
1998 |
2011 |
rs397516668
|
1.000 |
0.080 |
X |
70027889 |
inframe insertion |
CAGGACCTCCAGGACCCC/-;CAGGACCTCCAGGACCCCCAGGACCTCCAGGACCCC
|
delins
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
1998 |
2016 |
rs727503011
|
1.000 |
0.080 |
X |
70035424 |
stop gained |
C/T
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
1996 |
2013 |
rs876657639
|
1.000 |
0.080 |
X |
70035500 |
missense variant |
C/T
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
1998 |
2011 |
rs879255551
|
0.925 |
0.120 |
X |
70033469 |
missense variant |
C/T
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
2009 |
2016 |
rs1569407346
|
1.000 |
0.080 |
X |
70035566 |
missense variant |
C/T
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
2001 |
2013 |
rs876657642
|
1.000 |
0.080 |
X |
70033515 |
missense variant |
A/C
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
2008 |
2013 |
rs876657685
|
1.000 |
0.080 |
X |
70027973 |
inframe deletion |
ACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACC/-
|
delins
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
1998 |
2011 |
rs1569272194
|
1.000 |
0.080 |
X |
69616469 |
missense variant |
A/T
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
1998 |
2008 |
rs1569404780
|
1.000 |
0.080 |
X |
70027855 |
splice acceptor variant |
A/T
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
1998 |
2015 |
rs397516675
|
1.000 |
0.080 |
X |
70033426 |
stop gained |
G/A;T
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2001 |
2001 |
rs397516681
|
1.000 |
0.080 |
X |
70033506 |
missense variant |
A/G
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2001 |
2011 |
rs886039344
|
1.000 |
0.080 |
X |
70028037 |
splice donor variant |
G/A
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
1998 |
2008 |
rs886042183
|
1.000 |
0.080 |
X |
70029538 |
missense variant |
G/A;T
|
snv
|
|
|
Christ-Siemens-Touraine syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2008 |
2016 |