C to T mutation (coordinate 3R:18920194 , release 6 genome) in the intron upstream of the first coding exon; mutation disrupts the repetition of the conserved hexanucleotide pyrimidine motif TCTDTB.
C18920194T
A C to T mutation (coordinate 3R:18920194 , release 6 genome) in the intron upstream of the first coding exon.