rs1569102786
|
1.000 |
0.160 |
X |
13736679 |
splice donor variant |
G/T
|
snv
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
2006 |
2016 |
rs312262818
|
0.925 |
0.200 |
X |
13736626 |
missense variant |
A/G;T
|
snv
|
1.1E-05
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2008 |
2017 |
rs797044945
|
1.000 |
0.160 |
X |
13768080 |
frameshift variant |
TAAAA/-
|
delins
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2013 |
2015 |
rs1569128307
|
1.000 |
0.160 |
X |
13749512 |
frameshift variant |
AA/-
|
delins
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs312262845
|
0.925 |
0.200 |
X |
13746827 |
frameshift variant |
AA/-;A;AAA
|
delins
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs1060500123
|
0.925 |
0.200 |
X |
13767252 |
stop gained |
C/T
|
snv
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555902640
|
0.925 |
0.200 |
X |
13746360 |
stop gained |
-/A
|
delins
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555902866
|
0.925 |
0.200 |
X |
13746873 |
stop gained |
G/T
|
snv
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1569141500
|
1.000 |
0.160 |
X |
13756669 |
stop gained |
C/G
|
snv
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1569163423
|
1.000 |
0.160 |
X |
13767272 |
frameshift variant |
-/T
|
delins
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1569164733
|
1.000 |
0.160 |
X |
13768093 |
stop gained |
G/T
|
snv
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1569164829
|
1.000 |
0.160 |
X |
13768111 |
stop gained |
G/T
|
snv
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs312262890
|
0.882 |
0.200 |
X |
13760583 |
frameshift variant |
AAAG/-;AAAGAAAG
|
delins
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs769923969
|
0.925 |
0.200 |
X |
13761079 |
splice region variant |
C/G;T
|
snv
|
5.5E-06
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|