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. 2024 Jan 16;25(2):1101. doi: 10.3390/ijms25021101

Table 1.

Detection of KMT2C and BCOR variants using WES and targeted sequencing.

GENE Consequence Protein Change Variant Type Tier (COSMIC) Genomic Change Chrom
KMT2C Nonsense_Mutation p.Gln755Ter SNV - c.2263C > T chr7
BCOR Frame_Shift_Del p.Ile496AsnfsTer17 Del T3 c.1487_1500del chrX