MutSpliceDB: a database of Splice Sites Variants
| Gene | PTCH1 |
| Mutation | NM_000264.5:c.2703+1G>C |
| Allele registry ID | CA374113274 |
| Effect | Intron inclusion between exons 16 & 17 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-K1-A6RV-01A | 49e72bf1-a9b4-4554-8d9d-a4068e7a8fea.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-K1-A6RV-01A_PTCH1_CA374113274.jpeg | hg38 |
