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


GeneKMT2D
MutationNM_003482.4:c.5783-1G>C
Allele registry IDCA384628522
EffectIntron inclusion between exons 26 & 27

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-4Z-AA80-01Ad2beac65-0b94-42df-b9e6-f1dac98f183e_gdc_realn_rehead.bamGDC/TCGATCGA-4Z-AA80-01A_KMT2D_CA384628522.jpeghg38