MutSpliceDB: a database of Splice Sites Variants
| Gene | VHL |
| Mutation | NM_000551.4:c.464-2A>G |
| Allele registry ID | CA357046 |
| Effect | Intron inclusion between exons 2 & 3 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-XK-AAIW-01A | c61f5b76-f540-45c1-9d26-535c43bc821e_gdc_realn_rehead.bam | GDC/TCGA | TCGA-XK-AAIW-01A_VHL_CA357046.jpeg | hg38 |
