MutSpliceDB: a database of Splice Sites Variants
| Gene | VHL |
| Mutation | NM_000551.3:c.340+2T>C |
| Allele registry ID | CA351751382 |
| Effect | Intron inclusion between exons 1 & 2 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| KMRC-3 | G28042.KMRC-3.1.bam | GDC/CCLE | KMRC-3_VHL_CA351751382.jpeg | hg19 | G28042.KMRC-3.1_VHL_mini.zip | Open mini BAM in IGV |
