rs776043976
|
1.000 |
0.120 |
15 |
42399640 |
missense variant |
C/G;T
|
snv
|
1.7E-05;
4.2E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
24 |
1995 |
2017 |
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 |
rs773827877
|
1.000 |
0.120 |
15 |
42399631 |
missense variant |
G/A;C
|
snv
|
1.2E-05;
4.2E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
19 |
1995 |
2017 |
rs1555421271
|
1.000 |
0.120 |
15 |
42394287 |
missense variant |
T/G
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
1995 |
2017 |
rs80338802
|
0.925 |
0.120 |
15 |
42410926 |
missense variant |
G/A;C
|
snv
|
3.2E-05;
4.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.810 |
1.000 |
16 |
1995 |
2017 |
rs557164942
|
1.000 |
0.120 |
15 |
42401763 |
missense variant |
C/G;T
|
snv
|
8.0E-06;
2.8E-05
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1995 |
2017 |
rs80338800
|
0.827 |
0.120 |
15 |
42387803 |
frameshift variant |
A/-
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
15 |
1995 |
2016 |
rs1555420634
|
1.000 |
0.120 |
15 |
42388996 |
missense variant |
G/A
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
1995 |
2017 |
rs794727697
|
1.000 |
0.120 |
15 |
42389051 |
inframe deletion |
GAA/-
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
13 |
1999 |
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 |
rs750083132
|
1.000 |
0.120 |
15 |
42410633 |
missense variant |
A/G
|
snv
|
8.0E-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 |
rs761637940
|
1.000 |
0.120 |
15 |
42401772 |
missense 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 |
10 |
1995 |
2017 |
rs762020512
|
1.000 |
0.120 |
15 |
42359882 |
missense variant |
C/G;T
|
snv
|
2.4E-05;
2.0E-05
|
|
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 |
rs376107921
|
0.925 |
0.120 |
15 |
42399617 |
missense variant |
G/A;C
|
snv
|
6.5E-05;
4.0E-05
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2004 |
2014 |
rs863224956
|
1.000 |
0.120 |
15 |
42399641 |
missense variant |
G/A;T
|
snv
|
1.3E-05
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1999 |
2014 |
rs863224958
|
1.000 |
0.120 |
15 |
42359951 |
missense variant |
G/A
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2004 |
2008 |
rs868791726
|
1.000 |
0.120 |
15 |
42410925 |
stop gained |
C/A;T
|
snv
|
4.0E-06;
1.2E-05
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1995 |
2017 |
rs761211705
|
1.000 |
0.120 |
15 |
42389944 |
intron variant |
G/A;C
|
snv
|
2.0E-05
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2005 |
2016 |
rs863224965
|
0.925 |
0.120 |
15 |
42388935 |
inframe deletion |
TCCTACGAAGCTCTGAAAGGT/-
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1997 |
2017 |
rs886042557
|
1.000 |
0.120 |
15 |
42409985 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1997 |
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 |
rs1555421871
|
0.882 |
0.120 |
15 |
42399617 |
frameshift variant |
G/-
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2005 |
2015 |
rs778768583
|
0.851 |
0.120 |
15 |
42410958 |
missense variant |
G/C
|
snv
|
8.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2005 |
2016 |
rs863224966
|
1.000 |
0.120 |
15 |
42390034 |
frameshift variant |
GATA/CTT
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2005 |
2011 |
rs727503837
|
1.000 |
0.120 |
15 |
42387851 |
inframe deletion |
TTCTGGAGTGCTCTG/-
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1998 |
2014 |