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


GeneLAMB1
MutationNM_002291.3:c.4746-2A>C
Allele registry IDCA368862349
EffectIntron inclusion between exons 30 & 31

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-2H-A9GN-01A963f26fd-8229-4223-bc2f-890a1e857c70.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-2H-A9GN-01A_LAMB1_CA368862349.jpeghg38