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


GeneEP300
MutationNM_001429.4:c.4453-2A>G
Allele registry IDCA411702416
EffectIntron inclusion between exons 27 & 28

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-SW-A7EA-01Ab3b169f7-56ec-4011-a1c2-056ec129afae_gdc_realn_rehead.bamGDC/TCGATCGA-SW-A7EA-01A_EP300_CA411702416.jpeghg38