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


GeneFANCA
MutationNM_000135.2:c.709+2T>C
Allele registry IDCA397477632
EffectIntron inclusion between exons 7 & 8

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
CML-T1G27344.CML-T1.1.bamGDC/CCLECML-T1_FANCA_CA397477632.jpeghg19G27344.CML-T1.1_FANCA_mini.zipOpen
mini BAM
in IGV