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


GeneAHI1
MutationNM_001134831.2:c.1441-1G>C
Allele registry IDCA365745709
EffectIntron 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-JW-A5VL-01Ad4d27b5d-8d30-4c77-8ffc-8965ca4c5d3e.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-JW-A5VL-01A_AHI1_CA365745709.jpeghg38