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


GeneCDKN2A
MutationNM_000077.4:c.457+1G>A
Allele registry IDCA373085806
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
KNS-62G20493.KNS-62.2.bamGDC/CCLEKNS-62_CDKN2A_CA373085806.jpeghg19G20493.KNS-62.2_CDKN2A_mini.zipOpen
mini BAM
in IGV