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


GeneHEXA
MutationNM_000520.6:c.1073+1G>A
Allele registry IDCA221064
EffectIntron inclusion between exons 9 & 10

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-J8-A3O0-01A92ab457d-b117-4c90-a415-b868c46f3bed.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-J8-A3O0-01A_HEXA_CA221064.jpeghg38