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Table 4 Mutational analysis of all study subjects

From: Mutational spectrum of tobacco associated oral squamous carcinoma and its therapeutic significance

S. No.

Mutations

Cytogenetic location

Codon no.

Variant

Variant type

Site

1

TP53

17p13.1

Codon 72

c.215C>G

(Pro72Arg)

Mis-sense

Transversion

Buccal mucosa

2

TP53

17p13.1

Codon 72

c.215C>G

(Pro72Arg)

Mis-sense

Transversion

Buccal mucosa

3

TP53

17p13.1

Codon 72

c.215C>G

(Pro72Arg)

Mis-sense

Transversion

Tongue

4

TP53

17p13.1

Codon 72

c.215C>G

(Pro72Arg)

Mis-sense

Transversion

Tongue

5

TP53

17p13.1

Codon 72

c.215C>G

(Pro72Arg)

Mis-sense

Transversion

Buccal mucosa

6

TP53

17p13.1

Codon 152

c.455C>T

(Pro152Leu)

Mis-sense

Transition

Lower alveolus

7

TP53

17p13.1

Codon 158

c.472C>T

(Arg158Cys)

Mis-sense

Transition

Tongue

8

TP53

17p13.1

Codon 165

c.493C>T

(Gln165Ter)

Non-sense

Tongue

9

TP53

17p13.1

Codon 173

c.517G>A

(Val173Met)

Mis-sense

Transition

Tongue

10

TP53

17p13.1

Codon 175

c.524G>A

(Arg175His)

Mis-sense

Transition

Buccal mucosa

11

TP53

17p13.1

Codon 204

c.610G>T

(Glu204Ter)

Non-sense

Buccal mucosa

12

TP53

17p13.1

Codon 213

c.638G>A

(Arg213Gln)

Mis-sense

Transition

Buccal mucosa

13

TP53

17p13.1

Codon 241

c.722C>T

(Ser241Phe)

Mis-sense

Transition

Lower alveolus

14

TP53

17p13.1

Codon 244

c.731G>C

(Gly244Ala)

Mis-sense

Transversion

Buccal mucosa

15

TP53

17p13.1

Codon 248

c.742C>T

(Arg248Trp)

Mis-sense

Transition

Buccal mucosa

16

TP53

17p13.1

Codon 248

c.742C>T

(Arg248Trp)

Mis-sense

Transition

Tongue

17

TP53

17p13.1

Codon 248

c.743G>A

(Arg248Gln)

Mis-sense

Transition

Buccal mucosa

18

TP53

17p13.1

Codon 267

c.799C>T

(Arg267Tryp)

Mis-sense

Transition

Tongue

19

TP53

17p13.1

Codon 274

c.820G>T

(Val274Phe)

Mis-sense

Tranversion

Lower alveolus

20

TP53

17p13.1

Codon 274

c.821T>G

(Val274Gly)

Mis-sense

Transversion

Buccal mucosa

21

TP53

17p13.1

Codon 301

c.902delC (pro301Glnfs)

Deletion (frameshift)

Tongue

22

TP53

17p13.1

Codon 306

c.916C>T

(Arg306Ter)

Non-sense

Buccal mucosa

23

TP53

17p13.1

Codon 306

c.916C>T

(Arg306Ter)

Non-sense

Upper alveolus

24

TP53

17p13.1

-

c.376-1G>A

unknown

Intron variant

(splice site)

Buccal mucosa

25

CDKN2A

9p21.3

Codon78

c.233-234delTC

(Leu78fs)

Deletion

(frameshift)

Buccal mucosa

26

CDKN2A

9p21.3

Codon 80

c.238 C>T

(Arg80Ter)

Non-sense

Buccal mucosa

27

CDKN2A

9p21.3

Codon 80

c.238 C>T

(Arg80Ter)

Non-sense

Buccal mucosa

28

CDKN2A

9p21.3

Codon 80

c.238C>T

(Arg80Ter)

Non-sense

Buccal mucosa

29

CDKN2A

9p21.3

Codon 80

c.238C>T

(Arg80Ter)

Non-sense

Tongue

30

CDKN2A

9p21.3

Codon 80

c.238C>T

(Arg80Ter)

Non-sense

Lower alveolus

31

CDKN2A

9p21.3

Codon 80

c.238C>T

(Arg80Ter)

Non-sense

Tongue

32

CDKN2A

9p21.3

Codon 110

c.330G>A

(Trp110Ter)

Non-sense

Buccal mucosa

33

CDKN2A

9p21.3

Codon 110

c.330G>A

(Trp110Ter)

Non-sense

Buccal mucosa

34

CDKN2A

9p21.3

Codon 110

c.330G>A

(Trp110Ter)

Non-sense

Upper alveolus

35

HRAS

11p15.5

Codon 12

c.34G>A

(Gly12Ser)

Mis-sense

Transition

Buccal mucosa

36

HRAS

11p15.5

Codon 12

c.34G>A

(Gly12Ser)

Mis-sense

Transition

Buccal mucosa

37

HRAS

11p15.5

Codon 12

c.34G>A

(Gly12Ser)

Mis-sense

Transition

Buccal mucosa

38

HRAS

11p15.5

Codon 12

c.35G>A

(Gly12Asp)

Mis-sense

Transition

Lower lip

39

HRAS

11p15.5

Codon 13

c.37G>C

(Gly13Arg)

Mis-sense

Transversion

Lower lip

40

HRAS

11p15.5

Codon 13

c.38G>T

(Gly13Val)

Mis-sense

Transversion

Buccal mucosa

41

HRAS

11p15.5

Codon 61

c.181C>A

(Gln61Lys)

Mis-sense

Transversion

Tongue

42

HRAS

11p15.5

Codon 61

c.182A>T

(Gln61Leu)

Mis-sense

Transversion

Tongue

43

PIK3CA

3q26.32

Codon 542

c.1625A>C

(Glu542Ala)

Mis-sense

Transversion

Lower alveolus

44

PIK3CA

3q26.3

Codon 542

c.1624G>A

(Glu542Lys)

Mis-sense

Transition

Lower alveolus

45

PIK3CA

3q26.3

Codon 1047

c.3140 A>G

(His1047Arg)

Mis-sense

Transition

Buccal mucosa

46

SMARCB1

22q11.23

-

c.1146-41G>A

unknown

Intron variant

Buccal mucosa

47

SMARCB1

22q11.23

-

c.1146-41G>A

Intron variant

Buccal mucosa

48

KIT

4q12

Codon 541

c.1621A>C

(Met541Leu)

Mis-sense

Transversion

Buccal mucosa

49

BRAF

7q34

Codon 466

c.1397G>C

(Gly466Ala)

Mis-sense

Transversion

Lower alveolus

50

STK11

19p13.3

Codon 357

c.1071G>T

(Glu357Asp)

Mis-sense

Transversion

Lower alveolus

51

ABL1

9q34.12

Codon 274

c.764A>T

(Glu274Val)

Mis-sense

Transversion

Tongue

Codon 415

c.1187A>G

(His415Pro)

Mis-sense

Transition

52

EGFR

7p11.2

Codon 746

c.2234delAGG (Glu746del)

Deletion

(in frame

Deletion)

Tongue

53

RB1

13q14.2

Codon 680

c.2039T>C

(Ile680Thr)

Mis-sense

Transition

Tongue