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


GeneKEAP1
MutationNM_203500.2:c.1709-1G>T
Allele registry IDCA403982510
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-44-7667-01A67e31df5-7c79-4f2c-ad71-1a4bc376c728_gdc_realn_rehead.bamGDC/TCGATCGA-44-7667-01A_KEAP1_CA403982510.jpeghg38