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. 2021 Jun 14;16:53. doi: 10.1186/s13000-021-01109-z

Table 1.

Mutation Profiling by Next Generation Sequencing (NGS)

Specimen Gene Alteration VAF Coverage Significance
Donor kidneytumor (50% estimated tumor cellularity, 83% donor)
MSH2 c.1787A > G; p.N596S 3.5% 1576x Uncertain (germline)
TERT Amplification (18.8x) Gain-of-function
CDKN2A Loss (0.25x) Loss-of-function
CDKN2B Loss (0.23x) Loss-of-function
Recipient lymph node with metastasis (50% estimated tumor cellularity, 8% donor)
MSH2 c.1787A > G; p.N596S 37% 1552x Uncertain (germline)
MSH6 c.116G > A; p.G39E 34% 193x Uncertain (germline)
FANCA c.1772G > A; p.R591Q 41% 3055x Uncertain (germline)