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


GeneETFDH
MutationNM_004453.4:c.684+1G>T
Allele registry IDCA358560066
EffectIntron inclusion between exons 6 & 7

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-ZQ-A9CR-01Ab0a58bad-9306-4450-9e2e-b3fe199a9ceb.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-ZQ-A9CR-01A_ETFDH_CA358560066.jpeghg38