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. 2021 Nov 22;2022:21-0081. doi: 10.1530/EDM-21-0081

Table 2.

Genomic testing results.

Gene Mutation Type Allele frequency (%)
TP53 ENST00000269305.8:c.490A>G:exon5:p.K164E Somatic 98
RB1 ENST00000267163.5:c.1442_1470del:exon16:p.I481fs Somatic 98
CTNNB1 ENST00000349496.11:c.133_135del:exon3:p.S45del Somatic 97
ATRX ENST00000373344.10:c.1834A>T:exon9:p.K612* Somatic 97
Other key genomic features
 Low mutation burden (2.38 mutations per megabase)
 High number of chromosomal breaks
 Whole-genome doubling

* indicates the amino acid change leads to a stop codon.