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


GeneEP300
MutationNM_001429.4:c.4617+1G>A
Allele registry IDCA411703776
EffectIntron inclusion between exons 28 & 29

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-LN-A49V-01Afe1c21a3-bac4-4810-bc47-75563c64410a.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-LN-A49V-01A_EP300_CA411703776.jpeghg38