MutSpliceDB: a database of Splice Sites Variants
Gene | EPS8L2 |
Mutation | NM_022772.4:c.769-2A>T |
Allele registry ID | CA216939698 |
Effect | Intron inclusion between exons 9 & 10 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-DD-AAW2-01A | 9f62f80d-72e6-41b6-aa23-91dc21b6fc5c.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-DD-AAW2-01A_EPS8L2_CA216939698.jpeg | hg38 |