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


GeneVHL
MutationNM_000551.4:c.464-1G>C
Allele registry IDCA357081
EffectIntron inclusion between exons 2 & 3

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-B0-5095-01Ac8e5dfe5-6d32-4bcf-bd4f-5dd39abee350_gdc_realn_rehead.bamGDC/TCGATCGA-B0-5095-01A_VHL_CA357081.jpeghg38