MutSpliceDB: a database of Splice Sites Variants
| Gene | GAA |
| Mutation | NM_000152.5:c.1754+2T>G |
| Allele registry ID | CA401369204 |
| Effect | Intron inclusion between exons 12 & 13 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-SX-A71W-01A | c6b97d40-cccd-4dad-b712-a21873031aaa.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-SX-A71W-01A_GAA_CA401369204.jpeg | hg38 |
