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


GeneEPS8L2
MutationNM_022772.4:c.769-2A>T
Allele registry IDCA216939698
EffectIntron inclusion between exons 9 & 10

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-DD-AAW2-01A9f62f80d-72e6-41b6-aa23-91dc21b6fc5c.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-DD-AAW2-01A_EPS8L2_CA216939698.jpeghg38