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


GeneTGFBR2
MutationNM_003242.6:c.1396+1G>A
Allele registry IDCA046428
EffectIntron inclusion between exons 5 & 6

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-VS-A9UR-01Aeb02fc3a-44ca-4497-9ac6-5568b032d063_gdc_realn_rehead.bamGDC/TCGATCGA-VS-A9UR-01A_TGFBR2_CA046428.jpeghg38