rs886044183
|
0.925 |
0.160 |
19 |
46756420 |
stop gained |
G/A;C;T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs886043706
|
1.000 |
0.120 |
19 |
46756125 |
frameshift variant |
G/-
|
del
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs886042506
|
0.925 |
0.160 |
19 |
46755610 |
frameshift variant |
-/GGAG
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2001 |
2008 |
rs770711331
|
0.925 |
0.160 |
19 |
46755716 |
missense variant |
C/T
|
snv
|
1.5E-05
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2006 |
2009 |
rs770195088
|
1.000 |
0.120 |
19 |
46756528 |
missense variant |
G/A;C
|
snv
|
4.6E-06;
4.6E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs768606230
|
1.000 |
0.120 |
19 |
46756834 |
missense variant |
C/T
|
snv
|
9.0E-06
|
1.4E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2001 |
2018 |
rs765885747
|
1.000 |
0.120 |
19 |
46756378 |
stop gained |
G/C;T
|
snv
|
4.4E-05;
2.5E-05
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2003 |
2013 |
rs754403441
|
0.925 |
0.160 |
19 |
46756586 |
frameshift variant |
G/-;GG
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs753811189
|
1.000 |
0.120 |
19 |
46756486 |
missense variant |
T/C;G
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs752731569
|
1.000 |
0.120 |
19 |
46755527 |
stop gained |
G/A;T
|
snv
|
8.4E-06
|
7.0E-06
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs752582904
|
0.925 |
0.120 |
19 |
46756397 |
missense variant |
C/G
|
snv
|
6.0E-06
|
7.0E-06
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs748087383
|
1.000 |
0.120 |
19 |
46756617 |
frameshift variant |
CG/-
|
delins
|
8.2E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2005 |
2017 |
rs587780334
|
1.000 |
0.120 |
19 |
46756477 |
stop gained |
G/C;T
|
snv
|
8.4E-03;
9.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587777823
|
1.000 |
0.120 |
19 |
46755835 |
frameshift variant |
-/ACCT
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs563033008
|
0.925 |
0.160 |
19 |
46756348 |
missense variant |
G/A
|
snv
|
3.2E-05
|
3.1E-04
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs543163491
|
0.827 |
0.160 |
19 |
46755995 |
missense variant |
A/G;T
|
snv
|
8.2E-05;
6.8E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
9 |
2001 |
2018 |
rs398124395
|
1.000 |
0.120 |
19 |
46756391 |
missense variant |
C/A;T
|
snv
|
6.1E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs28937905
|
1.000 |
0.120 |
19 |
46755610 |
missense variant |
C/G;T
|
snv
|
8.6E-06;
4.3E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2001 |
2018 |
rs28937903
|
0.882 |
0.160 |
19 |
46756814 |
missense variant |
C/A;T
|
snv
|
4.5E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2004 |
2017 |
rs28937901
|
1.000 |
0.120 |
19 |
46756396 |
missense variant |
C/A;T
|
snv
|
6.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2001 |
2018 |
rs28937900
|
0.752 |
0.160 |
19 |
46756276 |
missense variant |
C/A;T
|
snv
|
1.0E-03
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.830 |
1.000 |
12 |
2001 |
2018 |
rs1555739333
|
1.000 |
0.120 |
19 |
46756925 |
frameshift variant |
C/-
|
del
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2004 |
2004 |
rs1555739041
|
1.000 |
0.120 |
19 |
46756569 |
frameshift variant |
C/-
|
del
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555738883
|
1.000 |
0.120 |
19 |
46756407 |
frameshift variant |
GC/-
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555738823
|
1.000 |
0.120 |
19 |
46756309 |
frameshift variant |
TTCGGCTGCAA/-
|
del
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |