From: Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review
Effect
gDNA position
Score
Wt detection sequence
Exon-intron border
Donor decreased
34,533
Wt:0.73/mu:0.35
Wt:ACACAGTGTACGTGT
mu: ACACAGTGTATGTGT
ACAG|tgta