rs1057516330
|
1.000 |
0.120 |
11 |
66521331 |
frameshift variant |
G/-
|
delins
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516371
|
1.000 |
0.120 |
11 |
66523751 |
frameshift variant |
C/-
|
delins
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516427
|
1.000 |
0.120 |
11 |
66523480 |
stop gained |
C/A
|
snv
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516502
|
1.000 |
0.120 |
11 |
66515859 |
splice acceptor variant |
A/G
|
snv
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516507
|
1.000 |
0.120 |
11 |
66511241 |
splice donor variant |
T/A
|
snv
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516533
|
0.925 |
0.120 |
11 |
66523842 |
frameshift variant |
T/-
|
delins
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516661
|
1.000 |
0.120 |
11 |
66523723 |
splice acceptor variant |
G/A;C
|
snv
|
|
1.4E-05
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516901
|
1.000 |
0.120 |
11 |
66529901 |
frameshift variant |
C/-
|
delins
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517007
|
1.000 |
0.120 |
11 |
66514426 |
frameshift variant |
C/-
|
delins
|
|
7.0E-06
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517332
|
0.925 |
0.120 |
11 |
66523454 |
splice acceptor variant |
A/G
|
snv
|
4.0E-06
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060503690
|
0.925 |
0.120 |
11 |
66526708 |
stop gained |
G/T
|
snv
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs113994179
|
0.925 |
0.120 |
11 |
66523453 |
splice region variant |
C/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1166022838
|
0.925 |
0.120 |
11 |
66510675 |
frameshift variant |
-/C
|
delins
|
4.0E-06
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1182864166
|
1.000 |
0.120 |
11 |
66510708 |
splice donor variant |
T/C
|
snv
|
4.0E-06
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121917777
|
0.925 |
0.120 |
11 |
66531692 |
stop gained |
G/A;T
|
snv
|
4.0E-06;
1.6E-05
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1306821707
|
1.000 |
0.120 |
11 |
66510660 |
start lost |
A/C;G;T
|
snv
|
4.0E-06
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1313590454
|
1.000 |
0.120 |
11 |
66511236 |
frameshift variant |
-/A
|
delins
|
4.0E-06
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1353098253
|
1.000 |
0.120 |
11 |
66515588 |
splice donor variant |
T/G
|
snv
|
|
2.1E-05
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555046748
|
1.000 |
0.120 |
11 |
66515538 |
splice acceptor variant |
A/G
|
snv
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555047786
|
1.000 |
0.120 |
11 |
66521322 |
frameshift variant |
T/-
|
delins
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555049893
|
1.000 |
0.120 |
11 |
66529818 |
splice acceptor variant |
G/T
|
snv
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555049933
|
1.000 |
0.120 |
11 |
66529870 |
frameshift variant |
-/TGCC
|
delins
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555050268
|
1.000 |
0.120 |
11 |
66531003 |
frameshift variant |
-/T
|
delins
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555050394
|
1.000 |
0.120 |
11 |
66531654 |
splice acceptor variant |
A/T
|
snv
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1565286202
|
1.000 |
0.120 |
11 |
66523872 |
missense variant |
T/A
|
snv
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|