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


GeneRECQL4
MutationNM_004260.4:c.2201-2A>T
Allele registry IDCA372679488
EffectIntron inclusion between exons 13 & 14

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-B5-A1MW-01A227a3805-19ea-447e-8c8c-b4b7971606a1_gdc_realn_rehead.bamGDC/TCGATCGA-B5-A1MW-01A_RECQL4_CA372679488.jpeghg38