MutSpliceDB: a database of Splice Sites Variants
Gene | POLE |
Mutation | NM_006231.4:c.331-2A>G |
Allele registry ID | CA387368436 |
Effect | Intron 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-CG-5721-01A | c57f2c05-ebc2-460f-8705-1f0d55e7e5f2_gdc_realn_rehead.bam | GDC/TCGA | TCGA-CG-5721-01A_POLE_CA387368436.jpeg | hg38 |