MutSpliceDB: a database of Splice Sites Variants
Gene | CHD2 |
Mutation | NM_001271.4:c.2578-2A>G |
Allele registry ID | CA393893639 |
Effect | Intron inclusion between exons 20 & 21 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-D3-A3C3-06A | 412859bb-8b2a-44bf-b3b2-6acd30986067.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-D3-A3C3-06A_CHD2_CA393893639.jpeg | hg38 |