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


GeneCHD2
MutationNM_001271.4:c.5153+1G>A
Allele registry IDCA393908020
EffectIntron inclusion between exons 38 & 39

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-FD-A3SJ-01A9f7c8673-9fdf-4ec2-b4d1-fbd47a640d91.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-FD-A3SJ-01A_CHD2_CA393908020.jpeghg38