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. 2022 May 20;15:117. doi: 10.1186/s12920-022-01255-3

Table 2.

Details of pathogenic or likely pathogenic variants carriers

ID Age Gender Family history Gene Exon Nucleotide change Amino acid change
2,019,772 70 Male Father, sister ATM None c.2376 + 1G > A
2,019,772 70 Male Father, sister TP53 8 c.818G > A p.Arg273His
2,016,599 39 Male NO BRCA1 10 c.1465G > T p.Glu489Ter
2,032,699 77 Male NO BRCA1 15 c.4801A > T p.Lys1601Ter
2,012,976 68 Male NO BRCA2 25 c.9294C > G p.Tyr3098Ter
2,013,902 80 Male NO FGFR4 4 c.379G > C p.Asp127His