Table 2.

DNA variant profile (Case #2)

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

SSL sessile serrated lesion, TA tubular adenoma, C Cecum, A Ascending Colon, T Transverse Colon, D Descending Colon