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


GeneKEAP1
MutationNM_203500.2:c.1709-2A>C
Allele registry IDCA403982536
EffectIntron inclusion between exons 5 & 6

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-EO-A22U-01A18c52fe6-5cb0-4e59-91a2-e9845c0527c6_gdc_realn_rehead.bamGDC/TCGATCGA-EO-A22U-01A_KEAP1_CA403982536.jpeghg38