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


GeneCDKN2A
MutationNM_000077.4:c.457+2T>C
Allele registry IDCA373085801
EffectIntron inclusion between exons 2 & 3, or skipping end of exon 2

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
Hs 766TG26233.Hs_766T.2.bamGDC/CCLEHs766T_CDKN2A_CA373085801.jpeghg19G26233.Hs_766T.2_CDKN2A_mini.zipOpen
mini BAM
in IGV
HSC-2G28896.HSC-2.3.bamGDC/CCLEHSC-2_CDKN2A_CA373085801.jpeghg19G28896.HSC-2.3_CDKN2A_mini.zipOpen
mini BAM
in IGV