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Table 2 SPEG gene c.3715 + 4C > T splicing mutation site, predicted by MutationTaster, will lead to the possible inactivation of the donor site (score reduced from 0.73 to 0.35)

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