MutSpliceDB: a database of Splice Sites Variants
| Gene | POMT1 |
| Mutation | NM_001077365.2:c.1082+2T>C |
| Allele registry ID | CA375308966 |
| Effect | Intron inclusion between exons 11 & 12 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-VQ-A8PP-01A | e86d5656-a703-4d14-9042-d2f9d3925c07.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-VQ-A8PP-01A_POMT1_CA375308966.jpeg | hg38 |
