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


GeneCHD2
MutationNM_001271.4:c.2578-2A>G
Allele registry IDCA393893639
EffectIntron inclusion between exons 20 & 21

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-D3-A3C3-06A412859bb-8b2a-44bf-b3b2-6acd30986067.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-D3-A3C3-06A_CHD2_CA393893639.jpeghg38