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Figure 1: Deoxyribonucleic acid sequence chromatogram showing the presence of mutations. (a) p.D806N mutation in exon 14 of mitogen activated protein kinase kinase kinase 1 (MAP3K1) gene. This is a heterozygous mutation indicated by an arrow showing presence of two overlapping peaks corresponding to two nucleotides A (wild type) and G (mutant) (b) p.Q1028Q mutation in exon 14 of MAP3K1 (c) p.T428T heterozygous mutation in exon 6 of MAP3K1 (d) p.T942ins mutation in exon 14 of MAP3K1 showing insertion of CAA nucleotide triplet. The chromatogram for this mutation has been reverse complemented for which the frameshift has been depicted toward left |
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