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


GeneDNAH5
MutationNM_001369.3:c.6579+2T>C
Allele registry IDCA359197017
EffectIntron inclusion between exons 39 & 40

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-XK-AAIW-01A748df5d4-527b-49d9-8093-c326cb61a015.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-XK-AAIW-01A_DNAH5_CA359197017.jpeghg38