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


GeneATRX
MutationNM_000489.6:c.4700-1G>C
Allele registry IDCA413705515
EffectIntron inclusion between exons 16 & 17

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-8563-01A41d2a341-4700-4ff9-b03f-fe576fac5a4b_gdc_realn_rehead.bamGDC/TCGATCGA-HT-8563-01A_ATRX_CA413705515.jpeghg38