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


GeneKDM6A
MutationNM_001291415.2:c.4035-2A>T
Allele registry IDCA412774216
EffectPotential intron inclusion between exons 27 & 28 or skipping beginning of exon 28

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-E7-A6MD-01Af1c5eae0-9272-4427-99b0-d898fd0ae240.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-E7-A6MD-01A_KDM6A_CA412774216.jpeghg38