rs104894681
|
0.776 |
0.200 |
19 |
46756793 |
missense variant |
C/T
|
snv
|
9.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894682
|
0.925 |
0.160 |
19 |
46756936 |
stop lost |
T/A
|
snv
|
8.1E-06
|
1.4E-05
|
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 |
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 |
|
|
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 |
rs104894691
|
0.925 |
0.160 |
19 |
46756349 |
missense variant |
T/C
|
snv
|
6.4E-06
|
4.2E-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 |
rs104894692
|
0.882 |
0.160 |
19 |
46756369 |
missense variant |
T/A
|
snv
|
6.3E-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 |
11 |
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 |
rs1301397800
|
1.000 |
0.120 |
19 |
46756883 |
missense variant |
T/C
|
snv
|
4.1E-06
|
7.0E-06
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2008 |
2009 |
rs143031195
|
1.000 |
0.120 |
19 |
46756523 |
missense variant |
C/T
|
snv
|
1.4E-04
|
1.0E-04
|
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 |
rs1450841129
|
1.000 |
0.120 |
19 |
46756466 |
missense variant |
G/A;C;T
|
snv
|
5.2E-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 |
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 |
|
|
rs1483781400
|
1.000 |
0.120 |
19 |
46756381 |
stop gained |
G/A;T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|