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Biometric Research Program (BRP)
    MutSpliceDB: a database of Splice Sites Variants


GeneFAT1
MutationNM_005245.4:c.4810+2T>C
Allele registry IDCA358978269
EffectIntron inclusion between exons 9 & 10

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-CG-5721-01A7763cc7c-8b33-46ec-9614-b6eafc7a3191.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-CG-5721-01A_FAT1_CA358978269.jpeghg38