aspsirna2180 |
GAAGCCAGAGAUCCUGGAA CUUCGGUCUCUAGGACCUU |
60 |
10 |
50 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2181 |
AGAAGCCAGAGAUCCUGGA UCUUCGGUCUCUAGGACCU |
80 |
40 |
40 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2182 |
GAGAAGCCAGAGAUCCUGG CUCUUCGGUCUCUAGGACC |
50 |
5 |
45 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2183 |
GGAGAAGCCAGAGAUCCUG CCUCUUCGGUCUCUAGGAC |
45 |
70 |
-25 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2184 |
GGGAGAAGCCAGAGAUCCU CCCUCUUCGGUCUCUAGGA |
80 |
70 |
10 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2185 |
AGGGAGAAGCCAGAGAUCC UCCCUCUUCGGUCUCUAGG |
50 |
10 |
40 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2186 |
GGGAGAAGCCAGUGAUCCU CCCUCUUCGGUCACUAGGA |
70 |
5 |
65 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
G/A,rs1219 |
|
24959844 |
aspsirna2187 |
GGGAGAAGCCAGACAUCCU CCCUCUUCGGUCUGUAGGA |
60 |
20 |
40 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2188 |
GGGAGAAGCCAGAGUUCCU CCCUCUUCGGUCUCAAGGA |
70 |
5 |
65 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2189 |
GGGAGAAGCCAGAGAACCU CCCUCUUCGGUCUCUUGGA |
77 |
40 |
37 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2190 |
GGGAGAAGCCAGAGAUGCU CCCUCUUCGGUCUCUACGA |
60 |
50 |
10 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2191 |
AGAAGCCAGUGAUCCUGGA UCUUCGGUCACUAGGACCU |
30 |
25 |
5 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2192 |
AGAAGCCAGACAUCCUGGA UCUUCGGUCUGUAGGACCU |
20 |
23 |
-3 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2193 |
AGAAGCCAGAGUUCCUGGA UCUUCGGUCUCAAGGACCU |
40 |
5 |
35 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2194 |
AGAAGCCAGAGAACCUGGA UCUUCGGUCUCUUGGACCU |
80 |
22 |
58 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2195 |
AGAAGCCAGAGAUGCUGGA UCUUCGGUCUCUACGACCU |
5 |
10 |
-5 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2196 |
AGAAGCCAGAGAUCGUGGA UCUUCGGUCUCUAGCACCU |
70 |
10 |
60 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2197 |
AGAAGCCAGAGAUCCAGGA UCUUCGGUCUCUAGGUCCU |
90 |
15 |
75 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |
aspsirna2198 |
AGAAGCCAGAGAUCCUCGA UCUUCGGUCUCUAGGAGCU |
60 |
20 |
40 |
COL6A1 |
Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
c.850G>A, p.G284R |
rs1219 |
|
24959844 |