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


GenePOMGNT1
MutationNM_017739.4:c.354+1G>A
Allele registry IDCA16040755
EffectIntron inclusion between exons 4 & 5

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-44-7660-01A4933c476-e3f3-45b0-b158-dcbe0539644e.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-44-7660-01A_POMGNT1_CA16040755.jpeghg38