MutSpliceDB: a database of Splice Sites Variants
| Gene | PMS2 |
| Mutation | NM_000535.5:c.2174+1G>A |
| Allele registry ID | CA010965 |
| Effect | Intron inclusion between exons 12 & 13 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| MOLT-3 | G28623.MOLT-3.1.bam | GDC/CCLE | MOLT-3_PMS2_CA010965.jpeg | hg19 | G28623.MOLT-3.1_PMS2_mini.zip | Open mini BAM in IGV |
