MutSpliceDB: a database of Splice Sites Variants
| Gene | DNAH5 |
| Mutation | NM_001369.3:c.8448+1G>A |
| Allele registry ID | CA359218685 |
| Effect | Intron inclusion between exons 50 & 51 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-EO-A3KX-01A | 8bba1103-8b79-4013-8a93-48f4b8839d3d.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-EO-A3KX-01A_DNAH5_CA359218685.jpeg | hg38 |
