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. 2019 Oct;5(5):a004408. doi: 10.1101/mcs.a004408

Table 1.

Genomic analysis of the patient's primary angiosarcoma

Gene Chromosome Genomic location HGVS DNA reference HGVS protein reference Variant type Predicted effect dbSNP/dbVar ID Genotype
POLE 12 g.133249847G > A c.1376C > T p.S459F Sub Missense Heterozygous
TP53 17 g.7578395 G > A c.535C > T p.H179Y Sub Missense rs587780070 Heterozygous
CDKN2A 9 g. 21694602–23444942 Homozygous deletion Whole gene deletion Homozygous