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


GeneEP300
MutationNM_001429.4:c.2241G>A
Allele registry IDCA10252784
EffectIntron inclusion between exons 12 & 13

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-BR-8591-01A17c032b0-8c5f-4227-9a8b-cac59576ce8f.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-BR-8591-01A_EP300_CA10252784.jpeghg38