MutSpliceDB: a database of Splice Sites Variants
| Gene | BCKDK |
| Mutation | NM_005881.4:c.424-1G>T |
| Allele registry ID | CA395657630 |
| Effect | Intron inclusion between exons 5 & 6 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-5P-A9JU-01A-11R | b7d0b30b-5faa-4ca0-aa58-28715449175a.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-5P-A9JU-01A-11R_BCKDK_CA395657630.jpeg | hg38 |
