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    MutSpliceDB: a database of Splice Sites Variants


GeneVPS13B
Mutation NM_152564.5:c.7247+2T>C
Allele registry IDCA371874664
EffectIntron inclusion between exons 40 & 41

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-AA-3713-01A0c5e45df-149d-4667-8154-312c5e6f246b.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-AA-3713-01A_VPS13B_.CA371874664.jpeghg38