|
rs387907160
|
1.000 |
|
7 |
16376129 |
missense variant |
G/C;T
|
snv
|
4.1E-06
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.800 |
1.000 |
5 |
2012 |
2013 |
|
rs387907162
|
1.000 |
|
7 |
16406231 |
missense variant |
C/G
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.800 |
1.000 |
5 |
2012 |
2013 |
|
rs397514547
|
1.000 |
|
7 |
16406129 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.800 |
1.000 |
5 |
2012 |
2013 |
|
rs397515408
|
1.000 |
|
7 |
16376138 |
missense variant |
A/C
|
snv
|
4.1E-06
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.800 |
1.000 |
5 |
2012 |
2013 |
|
rs587777797
|
1.000 |
|
7 |
16421162 |
missense variant |
C/A;G
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.800 |
1.000 |
3 |
2013 |
2017 |
|
rs397515409
|
1.000 |
|
7 |
16308599 |
missense variant |
G/A;C
|
snv
|
4.1E-06;
3.7E-05
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
1.000 |
5 |
2012 |
2013 |
|
rs566179705
|
1.000 |
|
7 |
16376162 |
missense variant |
C/T
|
snv
|
8.1E-06
|
2.8E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
1.000 |
5 |
2012 |
2013 |
|
rs752817129
|
1.000 |
|
7 |
16406218 |
missense variant |
C/T
|
snv
|
2.0E-05
|
2.8E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
1.000 |
5 |
2012 |
2013 |
|
rs1289931198
|
1.000 |
|
7 |
16376099 |
missense variant |
T/C
|
snv
|
|
1.4E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.700 |
1.000 |
3 |
2013 |
2017 |
|
rs369219851
|
1.000 |
|
7 |
16406149 |
missense variant |
G/A
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.700 |
1.000 |
3 |
2013 |
2017 |
|
rs397515396
|
0.925 |
|
7 |
16216198 |
splice acceptor variant |
C/A;T
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
1.000 |
2 |
2012 |
2013 |
|
rs397515396
|
0.925 |
|
7 |
16216198 |
splice acceptor variant |
C/A;T
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.700 |
1.000 |
2 |
2012 |
2013 |
|
rs886041302
|
0.925 |
|
7 |
16421269 |
frameshift variant |
-/A
|
delins
|
|
1.3E-04
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
1.000 |
2 |
1990 |
2012 |
|
rs886041302
|
0.925 |
|
7 |
16421269 |
frameshift variant |
-/A
|
delins
|
|
1.3E-04
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.700 |
1.000 |
2 |
1990 |
2012 |
|
rs1388044873
|
|
|
7 |
16249276 |
intron variant |
G/A;C
|
snv
|
|
|
High density lipoprotein measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
|
rs186882839
|
1.000 |
|
7 |
16091697 |
stop lost |
A/G;T
|
snv
|
2.5E-05
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
|
rs397515398
|
0.925 |
|
7 |
16406316 |
inframe deletion |
AAT/-
|
del
|
1.6E-05
|
4.9E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.700 |
1.000 |
1 |
1989 |
1989 |
|
rs397515398
|
0.925 |
|
7 |
16406316 |
inframe deletion |
AAT/-
|
del
|
1.6E-05
|
4.9E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
1.000 |
1 |
1989 |
1989 |
|
rs767978961
|
0.925 |
|
7 |
16406338 |
splice acceptor variant |
C/G
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
|
rs767978961
|
0.925 |
|
7 |
16406338 |
splice acceptor variant |
C/G
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
|
rs773325665
|
0.925 |
|
7 |
16301419 |
splice donor variant |
A/G
|
snv
|
1.6E-05
|
4.9E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.700 |
1.000 |
1 |
2013 |
2013 |
|
rs773325665
|
0.925 |
|
7 |
16301419 |
splice donor variant |
A/G
|
snv
|
1.6E-05
|
4.9E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
1.000 |
1 |
2013 |
2013 |
|
rs1202301143
|
1.000 |
|
7 |
16091736 |
stop gained |
C/A
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
|
0 |
|
|
|
rs1282788711
|
1.000 |
|
7 |
16376100 |
missense variant |
A/G
|
snv
|
1.4E-05
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
|
0 |
|
|
|
rs1554305719
|
0.925 |
|
7 |
16278176 |
frameshift variant |
TATCTTCTTCTGT/-
|
delins
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
|
0 |
|
|