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


GeneKEAP1
MutationNM_203500.2:c.1708+1G>T
Allele registry IDCA403983764
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-55-A4DF-01Afa873c9a-307c-4648-bc8e-7f378cba203b_gdc_realn_rehead.bamGDC/TCGA TCGA-55-A4DF-01A_KEAP1_CA403983764.jpeghg38