MutSpliceDB: a database of Splice Sites Variants
Gene | PRKDC |
Mutation | NM_006904.7:c.10458+2T>C |
Allele registry ID | CA371134752 |
Effect | Intron inclusion between exons 73 & 74 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-W5-AA2Z-01A | 3d6663aa-cf98-48ea-9c49-fa72a203948c.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-W5-AA2Z-01A_PRKDC_CA371134752.jpeg | hg38 |