rs1560264452
|
0.851 |
0.200 |
3 |
181712745 |
frameshift variant |
GG/-
|
del
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104893802
|
0.882 |
0.160 |
3 |
181712650 |
missense variant |
T/C
|
snv
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104893805
|
0.925 |
0.160 |
3 |
181712581 |
missense variant |
G/C;T
|
snv
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2003 |
2014 |
rs1560264973
|
1.000 |
0.160 |
3 |
181713201 |
frameshift variant |
GCCGAGGTGCCGGAACCCGC/ACCTCGG
|
delins
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2009 |
2014 |
rs771521201
|
1.000 |
0.160 |
3 |
181712900 |
stop gained |
C/G;T
|
snv
|
4.9E-05
|
3.5E-05
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2009 |
2011 |
rs104893799
|
1.000 |
0.160 |
3 |
181712889 |
stop gained |
C/T
|
snv
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104893800
|
1.000 |
0.160 |
3 |
181712637 |
stop gained |
G/T
|
snv
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104893801
|
1.000 |
0.160 |
3 |
181712608 |
stop gained |
C/A
|
snv
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104893803
|
1.000 |
0.160 |
3 |
181712823 |
stop gained |
C/G;T
|
snv
|
4.4E-06
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104893804
|
1.000 |
0.160 |
3 |
181712523 |
stop gained |
C/T
|
snv
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104893806
|
1.000 |
0.160 |
3 |
181712498 |
missense variant |
T/G
|
snv
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553862958
|
1.000 |
0.160 |
3 |
181712514 |
frameshift variant |
-/C
|
delins
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553862971
|
1.000 |
0.160 |
3 |
181712602 |
frameshift variant |
TT/-
|
delins
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1560264167
|
1.000 |
0.160 |
3 |
181712417 |
frameshift variant |
-/GGCAACTCCACCGCGGCGGCGGC
|
delins
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs387906688
|
1.000 |
0.160 |
3 |
181712605 |
stop gained |
T/A
|
snv
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398122803
|
1.000 |
0.160 |
3 |
181712413 |
frameshift variant |
-/G;GG
|
delins
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398122915
|
1.000 |
0.160 |
3 |
181712503 |
stop gained |
TC/AA
|
mnv
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398122916
|
1.000 |
0.160 |
3 |
181713194 |
frameshift variant |
C/-
|
delins
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587776776
|
1.000 |
0.160 |
3 |
181712909 |
frameshift variant |
C/-
|
delins
|
|
|
Microphthalmia, Syndromic 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|