MutSpliceDB: a database of Splice Sites Variants
| Gene | KMT2D |
| Mutation | NM_003482.4:c.16521+1G>T |
| Allele registry ID | CA384675602 |
| Effect | Intron inclusion between exons 53 & 54 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-63-7021-01A | c534aa38-8166-4fc8-98c5-4a1041643983_gdc_realn_rehead.bam | GDC/TCGA | TCGA-63-7021-01A_KMT2D_CA384675602.jpeg | hg38 |
