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


GeneCDKN2A
MutationNM_000077.4:c.457+1G>T
Allele registry IDCA373085804
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
NCI-H661G25212.NCI-H661.1.bamGDC/CCLENCI-H661_CDKN2A_CA373085804.jpeghg19G25212.NCI-H661.1_CDKN2A_mini.zipOpen
mini BAM
in IGV