rs1064793620
|
1.000 |
0.120 |
15 |
42389037 |
frameshift variant |
AT/-
|
del
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121434546
|
1.000 |
0.120 |
15 |
42360062 |
missense variant |
C/T
|
snv
|
2.0E-05
|
7.0E-06
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
rs1555417257
|
1.000 |
0.120 |
15 |
42359807 |
start lost |
T/C
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
rs1555420302
|
1.000 |
0.120 |
15 |
42386156 |
splice acceptor variant |
GCCTGCAGGGGACTGCTGGTTTCT/-
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555420462
|
1.000 |
0.120 |
15 |
42387757 |
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 |
|
0 |
|
|
rs1555420475
|
1.000 |
0.120 |
15 |
42387772 |
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 |
|
0 |
|
|
rs1555420642
|
1.000 |
0.120 |
15 |
42389022 |
frameshift variant |
GATG/AT
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555420647
|
1.000 |
0.120 |
15 |
42389034 |
frameshift variant |
CATGTACAAGA/-
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555421293
|
1.000 |
0.120 |
15 |
42394342 |
splice donor variant |
G/A
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555421523
|
1.000 |
0.120 |
15 |
42396802 |
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 |
|
0 |
|
|
rs1555421842
|
1.000 |
0.120 |
15 |
42399496 |
frameshift variant |
T/-
|
del
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555421847
|
1.000 |
0.120 |
15 |
42399532 |
stop gained |
G/T
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555421854
|
1.000 |
0.120 |
15 |
42399574 |
frameshift variant |
CT/-
|
del
|
|
|
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 |
|
|
rs1555422839
|
1.000 |
0.120 |
15 |
42408268 |
stop gained |
G/T
|
snv
|
|
|
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 |
|
|
rs1555422856
|
1.000 |
0.120 |
15 |
42408326 |
splice donor variant |
T/C
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555422954
|
1.000 |
0.120 |
15 |
42409331 |
frameshift variant |
TG/-
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555423015
|
1.000 |
0.120 |
15 |
42409801 |
stop gained |
T/A
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
rs1555423146
|
1.000 |
0.120 |
15 |
42410498 |
splice donor variant |
T/C
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555423217
|
0.925 |
0.120 |
15 |
42410982 |
frameshift variant |
AG/TCATCT
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|