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


GenePTEN
MutationNM_000314.8:c.492+1G>A
Allele registry IDCA377482838
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-SJ-A6ZJ-01Ae15aea13-eb7e-47a7-a480-f91321a69ec0_gdc_realn_rehead.bamGDC/TCGATCGA-SJ-A6ZJ-01A_PTEN_CA377482838.jpeghg38