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


GeneSMAD4
MutationNM_005359.6:c.1447+2T>C
Allele registry IDCA16616086
EffectIntron inclusion between exons 11 & 12

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-56-8201-01Aa7f3bb2c-c9ee-45be-b507-b1bd20bfb1e6.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-56-8201-01A_SMAD4_CA16616086.jpeghg38