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Table 2 DNA variant profile (Case #2)

From: Pure somatic pathogenic variation profiles for patients with serrated polyposis syndrome: a case series

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

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