MutSpliceDB: a database of Splice Sites Variants
| Gene | FH |
| Mutation | NM_000143.4:c.904+2_904+3delinsGG |
| Allele registry ID | CA2580617570 |
| Effect | Potential intron inclusion between exons 6 & 7 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-EE-A181-06A | b652254e-228b-40d4-be79-536ad87dad69.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-EE-A181-06A_FH_CA2580617570.jpeg | hg38 |
