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


GeneKDM5C
MutationNM_004187.5:c.3120+2T>C
Allele registry IDCA413111014
EffectIntron inclusion between exons 20 & 21

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-CD-A4MI-01A903b4bb1-bd9c-47df-80ae-d47b74d87f15.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-CD-A4MI-01A_KDM5C_CA413111014.jpeghg38