rs775130589
|
1.000 |
0.120 |
15 |
42410897 |
frameshift variant |
-/A
|
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 |
2007 |
2007 |
rs1555423021
|
1.000 |
0.120 |
15 |
42409825 |
frameshift variant |
-/AAACA
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555422298
|
1.000 |
0.120 |
15 |
42402944 |
frameshift variant |
-/CACC
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797045427
|
1.000 |
0.120 |
15 |
42384497 |
frameshift variant |
-/CC
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2007 |
2010 |
rs760919949
|
1.000 |
0.120 |
15 |
42409994 |
frameshift variant |
-/GT
|
delins
|
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 |
3 |
2005 |
2016 |
rs398123146
|
1.000 |
0.120 |
15 |
42360025 |
frameshift variant |
-/T
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1999 |
2016 |
rs753360208
|
1.000 |
0.120 |
15 |
42360062 |
frameshift variant |
-/T
|
delins
|
|
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 |
2 |
2006 |
2015 |
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 |
|
|
rs761897806
|
1.000 |
0.120 |
15 |
42410981 |
frameshift variant |
-/TC
|
ins
|
3.2E-05
|
8.4E-05
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
rs762471207
|
1.000 |
0.120 |
15 |
42409369 |
frameshift variant |
A/-
|
del
|
8.0E-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 |
3 |
1999 |
2014 |
rs1555422832
|
1.000 |
0.120 |
15 |
42408247 |
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 |
2 |
1999 |
2007 |
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 |
|
|
rs1555420083
|
1.000 |
0.120 |
15 |
42384541 |
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 |
|
|
rs1555422847
|
1.000 |
0.120 |
15 |
42408289 |
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 |
|
|
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 |
rs201736037
|
1.000 |
0.120 |
15 |
42401721 |
missense variant |
A/G
|
snv
|
5.6E-05
|
6.3E-05
|
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 |
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 |
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 |
rs1555420468
|
1.000 |
0.120 |
15 |
42387763 |
missense variant |
A/G
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2007 |
2014 |
rs764459544
|
1.000 |
0.120 |
15 |
42410908 |
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
|
0.700 |
1.000 |
3 |
2009 |
2015 |
rs863224962
|
1.000 |
0.120 |
15 |
42411285 |
splice acceptor variant |
A/G
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs886041335
|
1.000 |
0.120 |
15 |
42410586 |
splice acceptor variant |
A/G
|
snv
|
|
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 |
1 |
1999 |
1999 |
rs80338803
|
1.000 |
0.120 |
15 |
42405932 |
frameshift variant |
AAA/-;AA;AAAA
|
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 |
2016 |
rs1555423046
|
1.000 |
0.120 |
15 |
42409945 |
frameshift variant |
AC/-
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1995 |
2008 |