MutSpliceDB: a database of Splice Sites Variants
| Gene | HEXA |
| Mutation | NM_000520.6:c.412+1G>T |
| Allele registry ID | CA393066579 |
| Effect | Intron inclusion between exons 3 & 4 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-UF-A71E-01A | 66cf6609-a66d-4c1f-969e-0329039a2882.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-UF-A71E-01A_HEXA_CA393066579.jpeg | hg38 |
