rs606231131
|
0.925 |
0.120 |
4 |
3493316 |
frameshift variant |
-/CTGG
|
delins
|
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2006 |
2012 |
rs761899995
|
0.925 |
0.120 |
4 |
3493119 |
frameshift variant |
-/G
|
delins
|
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2006 |
2016 |
rs1553850100
|
1.000 |
0.080 |
4 |
3493006 |
frameshift variant |
-/GCCACTGGCAGCCACTCCT
|
delins
|
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797045040
|
1.000 |
0.080 |
4 |
3493461 |
frameshift variant |
-/TCCAGTCTGT
|
delins
|
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1560224831
|
0.925 |
0.120 |
4 |
3489765 |
frameshift variant |
-/TCTC
|
delins
|
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2006 |
2014 |
rs606231128
|
0.882 |
0.120 |
4 |
3493106 |
frameshift variant |
-/TGCC
|
delins
|
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
11 |
1990 |
2014 |
rs6811423
|
1.000 |
0.080 |
4 |
3492873 |
missense variant |
A/G
|
snv
|
0.23
|
0.18
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs606231129
|
0.925 |
0.120 |
4 |
3493243 |
frameshift variant |
C/-;CC
|
delins
|
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2006 |
2012 |
rs606231133
|
0.925 |
0.120 |
4 |
3493359 |
frameshift variant |
C/-;CC
|
delins
|
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2006 |
2008 |
rs606231132
|
1.000 |
0.080 |
4 |
3493125 |
frameshift variant |
C/-;CC
|
delins
|
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs775583136
|
1.000 |
0.080 |
4 |
3476523 |
synonymous variant |
C/A;T
|
snv
|
2.0E-05;
8.0E-06
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs940346413
|
1.000 |
0.080 |
4 |
3473535 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.2E-05
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2006 |
2012 |
rs118203995
|
1.000 |
0.080 |
4 |
3485607 |
stop gained |
C/G;T
|
snv
|
4.1E-06;
8.2E-06
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs770987150
|
0.925 |
0.120 |
4 |
3476447 |
missense variant |
C/T
|
snv
|
2.4E-05
|
2.8E-05
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2006 |
2012 |
rs1553846331
|
0.925 |
0.120 |
4 |
3473504 |
missense variant |
C/T
|
snv
|
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs756015202
|
0.925 |
0.120 |
4 |
3493047 |
missense variant |
C/T
|
snv
|
5.5E-06
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs794727884
|
0.925 |
0.120 |
4 |
3492938 |
frameshift variant |
CCC/-;CC;CCCC
|
delins
|
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553847993
|
1.000 |
0.080 |
4 |
3485618 |
protein altering variant |
CCCCACCAAGGGCC/GGACGGTTCTA
|
delins
|
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1286619522
|
1.000 |
0.080 |
4 |
3476522 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2006 |
2012 |
rs1429428597
|
1.000 |
0.080 |
4 |
3476356 |
missense variant |
G/A
|
snv
|
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2006 |
2012 |
rs758131044
|
1.000 |
0.080 |
4 |
3476491 |
missense variant |
G/A
|
snv
|
4.0E-05
|
1.4E-05
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2006 |
2012 |
rs781227659
|
1.000 |
0.080 |
4 |
3476506 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2006 |
2012 |
rs768892432
|
0.925 |
0.120 |
4 |
3476524 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs118203994
|
1.000 |
0.080 |
4 |
3485545 |
stop gained |
G/A;C
|
snv
|
4.1E-06;
1.2E-05
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2006 |
2012 |
rs571769859
|
1.000 |
0.080 |
4 |
3476425 |
missense variant |
G/A;C
|
snv
|
4.4E-05;
4.0E-06
|
|
Congenital myasthenic syndrome ib
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2006 |
2012 |