MutSpliceDB: a database of Splice Sites Variants
Gene | AHI1 |
Mutation | NM_001134831.2:c.1441-1G>C |
Allele registry ID | CA365745709 |
Effect | Intron inclusion between exons 11 & 12 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-JW-A5VL-01A | d4d27b5d-8d30-4c77-8ffc-8965ca4c5d3e.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-JW-A5VL-01A_AHI1_CA365745709.jpeg | hg38 |