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Table 2 Previously identified aberrant splice events [45, 46] detected in the Leucegene samples analyzed

From: TAP: a targeted clinical genomics pipeline for detecting transcript variants using RNA-seq data

Variant

Number of positive samples

CD13-Va

27

CD13-Vc

53

NOTCH2-Va

54

NOTCH2-Vb

77

FLT3-Va

92

FLT3-Vb*

51

FLT3-Vc*

3

  1. FLT3-Vb* – skipped exon 5 and 13-bp deletion at of exon 4 3′ end instead of skipped exons 5 and 7 and partial deletions of exons 6 and 8
  2. FLT3-Vc* – skipped exons 5,6,7 and 13-bp deletion of exon 4 at 3’end and 76-bp deletion of exon 8 at 5′ end instead of 26-bp deletion of exon 8 at 5′ end