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


GeneACOX1
MutationNM_004035.7:c.1728+2T>G
Allele registry IDCA401059684
EffectIntron inclusion between exons 12 & 13

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-AZ-6607-01A94f6e4f5-2447-4f1f-9f36-411f1c25a172.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-AZ-6607-01A_ACOX1_CA401059684.jpeghg38