aspsirna3137 |
GCCUGGAUCUGUGCUUGCC CGGACCUAGACACGAACGG |
85 |
46 |
39 |
TP63 |
Ectrodactily-ectodermal dysplasia and cleft lip/palate (EEC) |
c.727C>T, p.Arg243Trp |
rs12190883 |
|
27195674 |
aspsirna3153 |
GCCUGGAUCUGUGCUUGCC CGGACCUAGACACGAACGG |
85 |
46 |
39 |
TP63 |
Ectrodactily-ectodermal dysplasia and cleft lip/palate (EEC) |
c.727C>T, p.Arg243Trp |
rs12190883 |
|
27195674 |
aspsirna3158 |
GCCUGGAUCUGUGCUUGCC CGGACCUAGACACGAACGG |
80 |
45 |
35 |
TP63 |
Ectrodactily-ectodermal dysplasia and cleft lip/palate (EEC) |
c.727C>T, p.Arg243Trp |
rs12190883 |
|
27195674 |
aspsirna3160 |
GCCUGGAUCUGUGCUUGCC CGGACCUAGACACGAACGG |
81 |
45 |
36 |
TP63 |
Ectrodactily-ectodermal dysplasia and cleft lip/palate (EEC) |
c.727C>T, p.Arg243Trp |
rs12190883 |
|
27195674 |
aspsirna3286 |
GCCUGCUCCCUCAUCUACUGU CGGACGAGGGAGUAGAUGACA |
33 |
11 |
22 |
HTT |
Huntington disease (HD) |
NM_002111.7:c.6931T>C |
rs362331 |
|
27003755 |
aspsirna3307 |
GCCUUUGGAAGUCUGUGCCCU CGGAAACCUUCAGACACGGGA |
35 |
0 |
35 |
HTT |
Huntington disease (HD) |
NM_002111.6:c.9810C>T |
rs362307 |
|
27003755 |
aspsirna2239 |
UUCAGUAGCAGCAGCAGCAGU AAGUCAUCGUCGUCGUCGUCU |
80 |
18 |
62 |
ATN-1 |
Dentatorubral-pallidoluysian atrophy (DRPLA) |
c.1462_1464CAG(90_93) |
rs19392293 |
|
24981774 |
aspsirna3062 |
GACUGCACGGAGAAGCUGA CUGACGUGCCUCUUCGACU |
50 |
42 |
8 |
TGFBI |
Lattice corneal dystrophy type I (LCDI) |
c.370C>T,p.Arg124Cys |
rs12190921 |
|
24425855 |
aspsirna3068 |
GACUGCACGGAGAAGCUGA CUGACGUGCCUCUUCGACU |
30 |
5 |
25 |
TGFBI |
Lattice corneal dystrophy type I (LCDI) |
c.370C>T,p.Arg124Cys |
rs12190921 |
|
24425855 |
aspsirna0655 |
CUAUUCGGCUGCCUUCCUG GAUAAGCCGACGGAAGGAC |
10 |
78 |
-68 |
KCNH2 |
Long QT Syndrome (LQTS) |
c.1682C>T ,p.Ala561Val |
rs12191250 |
|
23470493 |
aspsirna0661 |
CAGUAGCAGCAGCAGCAGC GUCAUCGUCGUCGUCGUCG |
34 |
20 |
14 |
HTT |
Huntington disease (HD) |
c.52CAG(36_39) |
rs19392295 |
|
23042244 |
aspsirna0591 |
UCUUGGCUGGCCUCUUACU AGAACCGACCGGAGAAUGA |
26 |
0 |
26 |
KRT9 |
Epidermolytic palmoplantar keratoderma (EPPK) |
c.487C>T,p.Arg163Trp |
rs59616921 |
|
22402445 |
aspsirna3041 |
CAGUAGCAGCAGCAGCAGC GUCAUCGUCGUCGUCGUCG |
80 |
60 |
20 |
ATXN3 |
Machado-Joseph Disease (MJD)/Spinocerebellar ataxia type 3 (SCA3) |
c.892_894CAG(8_36) (p.Gln298_Gln305=) |
rs19392292 |
|
21294677 |
aspsirna0786 |
CAGUAGCAGCAGCAGCAGC GUCAUCGUCGUCGUCGUCG |
93 |
30 |
63 |
HTT |
Huntington disease (HD) |
c.52CAG(36_39) |
rs19392295 |
|
21095568 |
aspsirna0824 |
GUCUGUGCCCUUGUGCCCUGC CAGACACGGGAACACGGGACG |
58 |
37 |
21 |
HTT |
Huntington disease (HD) |
c.52CAG(36_39) |
rs362307 |
|
19361997 |
aspsirna0051 |
AUCUACUGUGUGCACUUCA UAGAUGACACACGUGAAGU |
78 |
35 |
43 |
HTT |
Huntington disease (HD) |
c.6931T>C,c.52CAG(36_39) |
rs362331 |
|
19289118 |