Gene | DNA variant | Amino acid alteration | Variant allele frequency (%) (Bold: VAF > 5%) | ||||
---|---|---|---|---|---|---|---|
#2–0 Blood | #2–1 SSL(T) | #2–2 TA(C) | #2–3 SSL(D) | #2–4 SSL(T) | |||
BRCA2 | NM_000059.3:c.2350A > G | NP_000050.2:p.Met784Val | 49.3 | 56.5 | 46.4 | 45.5 | 51.5 |
BRCA2 | NM_000059.3:c.3420 T > A | NP_000050.2:p.Ser1140Arg | 53.7 | 52.9 | 50.0 | 51.9 | 50.3 |
BRCA1 | NM_007300.3:c.670 + 1G > T | splicing site | 58.9 | 57.1 | 50.0 | 55.0 | 53.5 |
AXIN2 | NM_004655.3:c.2140C > T | NP_004646.3:p.Arg714Trp | 43.8 | 44.4 | 36.7 | 44.3 | 49.8 |
MET | NM_001127500.1:c.4141G > A | NP_001120972.1:p.Ala1381Thr | 48.6 | 48.4 | 49.4 | 46.6 | 55.8 |
BRAF | NM_004333.4:c.1799 T > A | NP_004324.2:p.Val600Glu | 0 | 15.8 | 0 | 10.6 | 9.5 |
ERBB2 | NM_004448.2:c.1846 T > C | NP_004439.2:p.Phe616Leu | 0 | 6.6 | 0 | 0 | 0 |
DMD | NM_004006.2:c.8851C > A | NP_003997.1:p.Arg2951Ser | 0 | 6.9 | 0 | 0 | 0 |
APC | NM_000038.5: c.4249_4265delATTATAAGCCCCAGTGA | NP_000029.2:p.Ile1417SerfsTer4 | 0 | 0 | 55.4 | 0 | 0 |
TP53 | NM_000546.5:c.818G > A | NP_000537.3:p.Arg273His | 0 | 0 | 27.9 | 0 | 0 |
MSH2 | NM_000251.2:c.727C > T | NP_000242.1:p.Arg243Trp | 0 | 0 | 10.5 | 0 | 0 |
CTNNB1 | NM_001904.3:c.1267A > T | NP_001895.1:p.Ile423Phe | 0 | 0 | 34.6 | 0 | 0 |
FBXW7 | NM_033632.3:c.227A > T | NP_361014.1:p.Gln76Leu | 0 | 0 | 24.5 | 0 | 0 |
BRAF | NM_004333.4:c.1781A > G | NP_004324.2:p.Asp594Gly | 0 | 0 | 38.5 | 0 | 0 |
BRAF | NM_004333.4:c.1085G > A | NP_004324.2:p.Arg362Gln | 0 | 0 | 26.4 | 0 | 0 |
GALNT12 | NM_024642.4:c.1250G > A | NP_078918.3:p.Arg417Gln | 0 | 0 | 22.4 | 0 | 0 |
FGFR3 | NM_001163213.1:c.929A > C | NP_001156685.1:p.Lys310Thr | 0 | 0 | 10.3 | 0 | 0 |
FGFR3 | NM_001163213.1:c.930 + 5G > C | splicing site | 0 | 0 | 11.5 | 0 | 0 |
CDC27 | NM_001114091.1:c.1750A > G | NP_001107563.1:p.Ser584Gly | 0 | 0 | 0 | 0 | 6.2 |
CDC27 | NM_001114091.1:c.1060C > A | NP_001107563.1:p.Gln354Lys | 0 | 0 | 0 | 0 | 5.5 |
CDC27 | NM_001114091.1:c.1039G > A | NP_001107563.1:p.Glu347Lys | 0 | 0 | 0 | 0 | 5.5 |
CDC27 | NM_001114091.1:c.80 T > C | NP_001107563.1:p.Leu27Pro | 0 | 0 | 0 | 0 | 5.2 |
CDC27 | NM_001114091.1:c.77 T > C | NP_001107563.1:p.Phe26Ser | 0 | 0 | 0 | 0 | 6.5 |