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


GeneATRX
MutationNM_000489.6:c.4809+2T>G
Allele registry IDCA413704915
EffectIntron inclusion between exons 17 & 18

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-HT-7610-01A536d2594-2529-489d-abad-3ed9a5d4b382_gdc_realn_rehead.bamGDC/TCGATCGA-HT-7610-01A_ATRX_CA413704915.jpeghg38