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


GeneKDM6A
MutationNM_001291415.2:c.3095-1G>C
Allele registry IDCA412800622
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-CV-6935-01Ad7db4397-6519-425c-afae-29bd1b481205.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-CV-6935-01A_KDM6A_CA412800622.jpeghg38