|
rs119103282
|
1.000 |
0.080 |
4 |
186191953 |
missense variant |
T/A;C
|
snv
|
2.3E-04;
1.0E-05
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs119103284
|
1.000 |
0.080 |
4 |
186210586 |
missense variant |
G/A
|
snv
|
3.6E-05
|
3.5E-05
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs119103285
|
1.000 |
0.080 |
4 |
186192004 |
missense variant |
G/A
|
snv
|
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs146494374
|
1.000 |
0.080 |
4 |
186210508 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06;
1.2E-05
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476182
|
1.000 |
0.080 |
4 |
186194613 |
splice donor variant |
G/A
|
snv
|
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476184
|
1.000 |
0.080 |
4 |
186209087 |
splice acceptor variant |
TGACAGCAGGTTACAG/-
|
del
|
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476186
|
1.000 |
0.080 |
4 |
186194538 |
missense variant |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476187
|
1.000 |
0.080 |
4 |
186194568 |
missense variant |
G/A
|
snv
|
4.4E-05
|
7.0E-06
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476188
|
1.000 |
0.080 |
4 |
186196010 |
stop gained |
T/G
|
snv
|
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476189
|
1.000 |
0.080 |
4 |
186196075 |
stop gained |
G/T
|
snv
|
2.0E-04
|
4.9E-05
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476190
|
1.000 |
0.080 |
4 |
186197044 |
missense variant |
T/G
|
snv
|
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476191
|
1.000 |
0.080 |
4 |
186197583 |
missense variant |
T/C
|
snv
|
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476192
|
1.000 |
0.080 |
4 |
186199040 |
frameshift variant |
A/-;AA
|
delins
|
4.0E-06
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476193
|
1.000 |
0.080 |
4 |
186199043 |
missense variant |
A/G
|
snv
|
8.0E-06
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476194
|
1.000 |
0.080 |
4 |
186201313 |
stop gained |
C/T
|
snv
|
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476195
|
1.000 |
0.080 |
4 |
186201326 |
missense variant |
A/T
|
snv
|
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476196
|
1.000 |
0.080 |
4 |
186201329 |
missense variant |
C/T
|
snv
|
2.0E-05
|
7.0E-06
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476200
|
1.000 |
0.080 |
4 |
186208931 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476201
|
1.000 |
0.080 |
4 |
186208943 |
missense variant |
G/A;T
|
snv
|
2.8E-05;
8.0E-06
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476202
|
1.000 |
0.080 |
4 |
186208961 |
missense variant |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476203
|
1.000 |
0.080 |
4 |
186208973 |
missense variant |
G/A;T
|
snv
|
6.4E-05;
4.0E-06
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476204
|
1.000 |
0.080 |
4 |
186209215 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs199476205
|
1.000 |
0.080 |
4 |
186210589 |
missense variant |
C/T
|
snv
|
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs797045181
|
1.000 |
0.080 |
4 |
186209263 |
missense variant |
A/G
|
snv
|
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs207482233
|
1.000 |
0.080 |
4 |
186201149 |
splice acceptor variant |
TCATACAGGTCATCGCT/GC
|
delins
|
|
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
1.000 |
14 |
2004 |
2016 |