rs1555735545
|
0.851 |
0.160 |
19 |
46746071 |
5 prime UTR variant |
G/A
|
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 |
|
|
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 |
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 |
rs1555738149
|
1.000 |
0.120 |
19 |
46755617 |
frameshift variant |
-/AGGCATTTGACAACGCG
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555738201
|
1.000 |
0.120 |
19 |
46755664 |
stop gained |
C/T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555738204
|
1.000 |
0.120 |
19 |
46755671 |
frameshift variant |
-/AGCCC
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894683
|
1.000 |
0.120 |
19 |
46755685 |
missense variant |
G/A
|
snv
|
1.0E-03
|
4.3E-03
|
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 |
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 |
rs1555738245
|
1.000 |
0.120 |
19 |
46755717 |
frameshift variant |
G/AT
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555738311
|
1.000 |
0.120 |
19 |
46755794 |
frameshift variant |
GCGCC/-
|
delins
|
|
|
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 |
|
|
rs104894690
|
1.000 |
0.120 |
19 |
46755850 |
missense variant |
C/T
|
snv
|
|
|
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 |
rs148206382
|
1.000 |
0.120 |
19 |
46755877 |
missense variant |
C/A
|
snv
|
4.5E-03
|
3.6E-03
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555738456
|
1.000 |
0.120 |
19 |
46755914 |
frameshift variant |
T/-
|
del
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555738502
|
1.000 |
0.120 |
19 |
46755976 |
stop gained |
C/T
|
snv
|
|
|
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 |
rs1191737604
|
1.000 |
0.120 |
19 |
46756004 |
frameshift variant |
C/-;CC
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1555738568
|
1.000 |
0.120 |
19 |
46756012 |
frameshift variant |
-/CCCGC
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555738651
|
1.000 |
0.120 |
19 |
46756104 |
frameshift variant |
G/-
|
delins
|
|
|
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 |
|
|
rs1555738675
|
1.000 |
0.120 |
19 |
46756131 |
frameshift variant |
GGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGC/-
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555738686
|
1.000 |
0.120 |
19 |
46756136 |
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 |
|
|
rs104894689
|
1.000 |
0.120 |
19 |
46756214 |
stop gained |
G/A
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555738753
|
1.000 |
0.120 |
19 |
46756228 |
stop gained |
G/T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|