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 |
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 |
rs773001194
|
1.000 |
0.120 |
15 |
42388944 |
missense variant |
G/A
|
snv
|
1.6E-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 |
10 |
1995 |
2017 |
rs863224957
|
1.000 |
0.120 |
15 |
42401751 |
missense variant |
C/T
|
snv
|
1.6E-05
|
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 |
10 |
1998 |
2017 |
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 |
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 |
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 |
rs374665929
|
1.000 |
0.120 |
15 |
42399483 |
intron variant |
A/C;G
|
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 |
7 |
1999 |
2015 |
rs749099493
|
1.000 |
0.120 |
15 |
42394289 |
missense variant |
C/T
|
snv
|
|
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 |
7 |
2005 |
2015 |
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 |
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 |
rs200379491
|
1.000 |
0.120 |
15 |
42410432 |
missense variant |
A/G
|
snv
|
1.5E-04
|
4.9E-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 |
rs200646556
|
1.000 |
0.120 |
15 |
42399548 |
missense variant |
C/T
|
snv
|
5.2E-05
|
5.6E-05
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2006 |
2014 |
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 |
rs774048743
|
0.925 |
0.120 |
15 |
42359938 |
missense variant |
G/A
|
snv
|
1.2E-05
|
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 |
5 |
2004 |
2007 |
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 |
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 |
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 |