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


GeneGPT2
MutationNM_133443.4:c.1213-3C>G
Allele registry IDCA2573331979
EffectIntron inclusion between exons 9 & 10

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-BT-A20R-01Ad5ed51f0-3df6-48a8-89d9-33f924ff8385.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-BT-A20R-01A_GPT2_CA2573331979.jpeghg38