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. 2024 Aug 14;14:18917. doi: 10.1038/s41598-024-69398-0

Table 3.

Fourteen CHIP-associated genetic variants identified in 94 paired saliva and blood-derived DNA samples. Three variants fell below the VAF 0.02 threshold as indicated in bold.

GRCh genomic coordinates Ref Alt Gene HGVSc HGVSp Blood Saliva
DP VD VAF DP VD VAF
2:25246163 T A DNMT3A NM_022552.5:c.1426A > T p.Arg476Ter 2107 137 0.07 1360 90 0.07
2:25241561 CAT C DNMT3A NM_022552.5:c.2081_2082del p.Ile695ProfsTer17 1073 95 0.09 1403 83 0.06
4:105272592 G A TET2 NM_001127208.3:c.4211_4214delinsAAT* p.Arg1404GlnfsTer44 1388 71 0.05 1152 59 0.05
2:25247053 G A DNMT3A NM_022552.5:c.1120C > T p.Gln374Ter 1184 25 0.02 1386 48 0.04
2:25246747 G GA DNMT3A NM_022552.5:c.1151_1152insT p.Val386GlyfsTer7 1665 87 0.05 902 50 0.06
2:25241682 GC G DNMT3A NM_022552.5:c.1961del p.Gly654AlafsTer51 2139 45 0.02 1573 40 0.03
2:25247710 TC T DNMT3A NM_022552.5:c.894del p.Lys299AsnfsTer17 3416 105 0.03 3216 79 0.03
2:2548216 C CA DNMT3A NM_022552.5:c.675_676insT p.Ala226CysfsTer27 710 76 0.11 506 40 0.08
4:105276152 A G TET2 NM_001127208.3:c.5642A > G p.His1881Arg 3123 212 0.07 2087 120 0.06
2:25240363 A C DNMT3A NM_022552.5:c.2261 T > G p.Leu754Arg 2225 64 0.03 2176 62 0.03
17:7673802 C T TP53 NM_000546.6:c.818G > A p.Arg273His 2367 115 0.05 1734 75 0.04
2:25235726 A G DNMT3A NM_022552.5:c.2578 T > C p.Trp860Arg 1410 41 0.03 913 7 0.008
2:25244257 G T DNMT3A NM_022552.5:c.1749C > A p.Cys583Ter 1952 59 0.03 1273 17 0.013
17:7675217 T C TP53 NM_000546.6:c.395A > G p.Lys132Arg 2334 48 0.02 1273 11 0.009

*Upon visual reassessment of the genomic alignment the variant nomenclature was adjusted.