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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs886042108
|
0.851 |
0.120 |
15 |
42409930 |
splice acceptor variant |
G/C;T
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1999 |
2016 |
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 |
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 |
rs1555420765
|
1.000 |
0.120 |
15 |
42389999 |
missense variant |
T/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 |
2009 |
2015 |
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 |
rs764086484
|
1.000 |
0.120 |
15 |
42410932 |
frameshift variant |
GACA/-
|
delins
|
|
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 |
1995 |
2014 |
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 |
rs1555421263
|
1.000 |
0.120 |
15 |
42394255 |
splice acceptor 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 |
2 |
2009 |
2010 |
rs1555421280
|
1.000 |
0.120 |
15 |
42394305 |
stop gained |
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 |
2 |
2002 |
2006 |
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 |
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 |
rs1555423222
|
1.000 |
0.120 |
15 |
42411001 |
splice donor variant |
G/T
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2007 |
2008 |
rs1566975163
|
1.000 |
0.120 |
15 |
42387887 |
splice donor variant |
G/-
|
del
|
|
|
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 |
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 |