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


GeneTTC7A
MutationNM_020458.4:c.518-2A>T
Allele registry IDCA346722756
EffectIntron inclusion between exons 3 & 4

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-56-8307-01A0dab5bf8-abc8-4fba-aa61-8f248378d942.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-56-8307-01A_TTC7A_CA346722756.jpeghg38