MutSpliceDB: a database of Splice Sites Variants
| Gene | KMT2D |
| Mutation | NM_003482.4:c.14644-1G>A |
| Allele registry ID | CA384693632 |
| Effect | Intron inclusion between exons 47 & 48 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-85-7843-01A | 02a2e863-a6cb-4591-98dd-2f07d2f428de_gdc_realn_rehead.bam | GDC/TCGA | TCGA-85-7843-01A_KMT2D_CA384693632.jpeg | hg38 |
