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


GeneVHL
MutationNM_000551.4:c.340+1G>C
Allele registry IDCA020282
EffectPotential intron inclusion between exons 1 & 2

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-A3-3376-01A1e2a58d2-411f-4f24-812d-5e58483f61a3.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-A3-3376-01A_VHL_CA020282.jpeghg38