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Biometric Research Program (BRP)
    MutSpliceDB: a database of Splice Sites Variants


GeneRECQL4
MutationNM_004260.4:c.1258+3G>C
Allele registry IDCA2573331893
EffectIntron inclusion between exons 6 & 7

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-G2-A2EL-01Aa2c96b20-f3ad-4671-94f3-058475f0ddac.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-G2-A2EL-01A_RECQL4_CA2573331893.jpeghg38