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


GeneEZH2
MutationNM_004456.5:c.2195+1G>A
Allele registry IDCA369711878
EffectIntron inclusion between exons 19 & 20

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-AB-2865855e74f6-0e52-44bf-af66-246b1635daaf.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-AB-2865_EZH2_CA369711878.jpghg38