rs1057524468
|
1.000 |
0.120 |
15 |
42394343 |
splice donor variant |
T/A;C
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1999 |
2005 |
rs1064793620
|
1.000 |
0.120 |
15 |
42389037 |
frameshift variant |
AT/-
|
del
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1085307995
|
1.000 |
0.120 |
15 |
42392678 |
missense variant |
G/A;C
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2006 |
2017 |
rs121434544
|
1.000 |
0.120 |
15 |
42402972 |
missense variant |
G/A;C;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
11 |
1995 |
2017 |
rs121434545
|
1.000 |
0.120 |
15 |
42384501 |
stop gained |
C/A;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1995 |
2014 |
rs121434546
|
1.000 |
0.120 |
15 |
42360062 |
missense variant |
C/T
|
snv
|
2.0E-05
|
7.0E-06
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121434547
|
1.000 |
0.120 |
15 |
42392649 |
missense variant |
C/T
|
snv
|
2.4E-05
|
7.0E-06
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
1997 |
2008 |
rs121434548
|
0.925 |
0.120 |
15 |
42401755 |
missense variant |
G/A;C
|
snv
|
6.8E-05;
4.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1995 |
2017 |
rs1274808359
|
1.000 |
0.120 |
15 |
42401667 |
missense variant |
C/T
|
snv
|
1.2E-05
|
1.4E-05
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1999 |
2016 |
rs1275289254
|
1.000 |
0.120 |
15 |
42401811 |
splice donor variant |
G/A;T
|
snv
|
4.1E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1999 |
2016 |
rs1293496023
|
1.000 |
0.120 |
15 |
42399594 |
frameshift variant |
TG/-
|
delins
|
4.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs1334369407
|
1.000 |
0.120 |
15 |
42402967 |
frameshift variant |
C/-
|
delins
|
4.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs1345121557
|
1.000 |
0.120 |
15 |
42388959 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1998 |
2016 |
rs1366387924
|
1.000 |
0.120 |
15 |
42402979 |
frameshift variant |
C/-
|
del
|
4.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2004 |
2014 |
rs141656719
|
0.925 |
0.120 |
15 |
42401754 |
missense variant |
C/T
|
snv
|
4.0E-06;
8.4E-05
|
1.5E-04
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
29 |
1995 |
2017 |
rs142004418
|
0.925 |
0.120 |
15 |
42402878 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
3.6E-05
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs1447774727
|
1.000 |
0.120 |
15 |
42410954 |
frameshift variant |
-/T
|
delins
|
|
1.4E-05
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1459288402
|
1.000 |
0.120 |
15 |
42389097 |
splice donor variant |
G/A
|
snv
|
4.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs146923842
|
1.000 |
0.120 |
15 |
42410660 |
missense variant |
G/A
|
snv
|
7.9E-04
|
7.2E-04
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2004 |
2010 |
rs147764579
|
1.000 |
0.120 |
15 |
42401752 |
missense variant |
G/A
|
snv
|
5.6E-05
|
1.5E-04
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1999 |
2008 |
rs148044781
|
1.000 |
0.120 |
15 |
42401791 |
missense variant |
T/C
|
snv
|
1.5E-04
|
2.5E-04
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
10 |
1995 |
2017 |
rs149095128
|
1.000 |
0.120 |
15 |
42411299 |
missense variant |
C/A
|
snv
|
8.0E-05
|
1.7E-04
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1995 |
2017 |
rs1555417257
|
1.000 |
0.120 |
15 |
42359807 |
start lost |
T/C
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555417271
|
1.000 |
0.120 |
15 |
42359861 |
frameshift variant |
C/-
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1555417321
|
1.000 |
0.120 |
15 |
42360014 |
frameshift variant |
A/-
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|