MutSpliceDB: a database of Splice Sites Variants
Gene | CDH1 |
Mutation | NM_004360.5:c.688-2A>G |
Allele registry ID | CA396458344 |
Effect | Intron inclusion between exons 5 & 6 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-A2-A0EW-01A | bc1ed706-3abf-407c-9133-18169a4cf0e2.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-A2-A0EW-01A_CDH1_CA396458344.jpeg | hg38 |