The DMD mutations database
Mutation:
c.IVS18-5del7a (c.2293-5del7a)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Acceptor
ctcatgctgcagGC
90.1
_
ctcatgcATAGAGCG
19.2
_
*
-78.6 %