MutSpliceDB: a database of Splice Sites Variants
| Gene | KMT2D |
| Mutation | NM_003482.4:c.14383-1G>A |
| Allele registry ID | CA384695526 |
| Effect | Intron inclusion between exons 45 & 46 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-Q1-A73O-01A | 3d21ca63-5295-4ed3-8e2d-7fd93193090a.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-Q1-A73O-01A_KMT2D_CA384695526.jpeg | hg38 |
