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


GeneVHL
MutationNM_000551.3:c.463+2T>C
Allele registry IDCA16621936
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
VMRC-RCZG30576.VMRC-RCZ.1.bamGDC/CCLEVMRC-RCZ_VHL_CA16621936.jpeghg19G30576.VMRC-RCZ.1_VHL_mini.zipOpen
mini BAM
in IGV