MutSpliceDB: a database of Splice Sites Variants
| Gene | ERCC2 |
| Mutation | NM_000400.4:c.1758+1G>A |
| Allele registry ID | CA9513120 |
| Effect | Intron inclusion between exons 18 & 19 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-OL-A66J-01A | e26295fd-369b-4cf0-98f3-939293cbe6e4.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-OL-A66J-01A_ERCC2_CA9513120.jpeg | hg38 |
