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


GeneHLA-C
MutationNM_002117.6:c.1048+2T>G
Allele registry IDCA363319411
EffectIntron inclusion between exons 6 & 7

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-G2-A3VY-01Ada7595aa-504a-46b9-9667-52260de1f477.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-G2-A3VY-01A_HLA-C_CA363319411.jpeghg38