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


GenePOLD1
MutationNM_002691.4:c.2251-1G>T
Allele registry IDCA406983918
EffectIntron inclusion between exons 18 & 19

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-HJ-7597-01A592deef8-4e7a-4664-b9dc-f894e3d79d90_gdc_realn_rehead.bamGDC/TCGATCGA-HJ-7597-01A_POLD1_CA406983918.jpeghg38