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


GeneDHTKD1
Mutation NM_018706.7:c.987+1G>T
Allele registry IDCA376018924
EffectIntron inclusion between exons 5 & 6

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-95-7567-01A4ad05e6b-e3d8-4048-8f61-1e79e421de0b.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-95-7567-01A_DHTKD1_CA376018924.jpeghg38