Table 3.
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.