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Egyptian Journal of Medical Human Genetics

Table 2 Patients’ mutational data

From: Clinicopathological features of Egyptian colorectal cancer patients regarding somatic genetic mutations especially in KRAS gene and microsatellite instability status: a pilot study

No.

Gene

Variant

Consequence

Chr

Exons

dbSNP ID

HGVSc

HGVSp

In silico predictions

COSMIC ID

MSI status

Sift

PolyPhen

  

1

PIK3CA

G>A

Missense

3

10/21

rs104885999

c.1571G>A

p.(Arg524Lys)

Tolerated (0.95)

Benign

COSM53245

MSI-L

TP53

C>G

Missense

17

4/11

rs1042522

c.215C>G

p.(Pro72Arg)

Tolerated (0.57)

Benign (0.145)

COSM250061

COSM3766193

2

KRAS

G>A

Missense

12

2/6

rs112445441

c.38G>A

p.(Gly13Asp)

Deleterious (0.04)

Possibly damaging (0.505)

COSM1140132

MSI-L

COSM532

TP53

C>T

Missense

12

8/11

rs28934574

c.844C>T

p.(Arg282Trp)

Deleterious

Probably damaging (0.995)

COSM99925

COSM10704

TP53

C>G

Missense

17

4/11

rs1042522

c.215C>G

p.(Pro72Arg)

Tolerated (0.57)

Benign (0.145)

COSM250061

COSM3766193

PIK3CA

C>A

Missense

3

10/21

rs121913286

c.1636C>A

p.(Gln546Lys)

Deleterious (0.03)

Probably damaging (0.95)

COSM766

COSM255876

3

TP53

G>A

Missense

17

7/11

rs11540652

c.743G>A

p.(Arg248Gln)

Deleterious

Probably damaging (1)

COSM10662

MSI-L

COSM99602

TP53

C>G

Missense

17

4/11

rs1042522

c.215C>G

p.(Pro72Arg)

Tolerated (0.57)

Benign (0.145)

COSM250061

COSM3766193

PIK3CA

C>G

Missense

3

10/21

rs121913285

c.1616C>G

p.(Pro539Arg)

Deleterious

Possibly damaging (0.795)

COSM446010

COSM759

4

TP53

C>G

Missense

17

5/11

rs138729528

c.523C>G

p.(Arg175Gly)

Deleterious

Probably damaging (0.985)

COSM707883

MSI-H

COSM707882

TP53

C>G

Missense

17

4/11

rs1042522

c.215C>G

p.(Pro72Arg)

Tolerated (0.57)

Benign (0.145)

COSM250061

COSM3766193

5

ERBB2

G>A

Missense

17

21/27

–

c.2524G>A

p.(Val842Ile)

Deleterious

Probably damaging (1)

COSM14065

MSI-H

COSM5034439

6

Wild

MSI-L

7

TP53

C>T

Stop gained

17

6/11

rs397516435

c.586C>T

p.(Arg196Ter)

–

–

COSM99668

MSI-L

COSM99667

TP53

C>G

Missense

17

4/11

rs1042522

c.215C>G

p.(Pro72Arg)

Tolerated (0.57)

Benign (0.145)

COSM250061

COSM3766193

8

KRAS

G>A

Missense

12

2/6

rs121913529

c.35G>A

p.(Gly12Asp)

Deleterious

Benign (0.36)

COSM521

MSI-H

COSM1135366

TP53

C>G

Missense

17

4/11

rs1042522

c.215C>G

p.(Pro72Arg)

Tolerated (0.57)

Benign (0.145)

COSM250061

COSM3766193

9

KIT

A>C

Missense

4

10/21

rs3822214

c.1621A>C

p.(Met541Leu)

Tolerated (0.37)

Benign

COSM28026

MSI-H

TP53

C>G

Missense

17

4/11

rs1042522

c.215C>G

p.(Pro72Arg)

Tolerated (0.57)

Benign (0.145)

COSM250061

COSM3766193

ERBB2

A>G

Missense

17

17/27

rs1136201

c.1963A>G

p.(Ile655Val)

Tolerated (0.75)

Benign (0.045)

COSM4000121

COSM5019265

10

TP53

C>T

Missense

17

7/11

rs121912651

c.742C>T

p.(Arg248Trp)

Deleterious

Probably damaging (1)

COSM10656

MSI-H

COSM3388183

TP53

C>G

Missense

17

4/11

rs1042522

c.215C>G

p.(Pro72Arg)

Tolerated (0.57)

Benign (0.145)

COSM250061

COSM3766193

TP53

C>T

Stop gained

17

10/11

rs730882029

c.1024C>T

p.(Arg342Ter)

–

–

COSM99721

COSM11073

11

KRAS

G>A

Missense

12

2/6

rs121913529

c.35G>A

p.(Gly12Asp)

Deleterious

Benign (0.36)

COSM521

MSI-L

COSM1135366

TP53

G>A

Missense

17

5/11

rs28934578

c.524G>A

p.(Arg175His)

Tolerated (0.11)

Benign (0.31)

COSM10648

COSM99914

TP53

C>G

Missense

17

4/11

rs1042522

c.215C>G

p.(Pro72Arg)

Tolerated (0.57)

Benign (0.145)

COSM250061

COSM3766193

12

KRAS

G>A

Missense

12

2/6

rs121913529

c.35G>A

p.(Gly12Asp)

Deleterious

Benign (0.36)

COSM521

MSI-H

COSM1135366

TP53

C>T

Missense

17

8/11

rs28934574

c.844C>T

p.(Arg282Trp)

Deleterious

Probably damaging(0.995)

COSM99925

COSM10704

TP53

T>C

Missense

17

6/11

rs760043106

c.584 T>C

p.(Ile195Thr)

Deleterious

Probably damaging (1)

COSM11089

COSM116922

TP53

C>G

Missense

17

4/11

rs1042522

c.215C>G

p.(Pro72Arg)

Tolerated (0.57)

Benign (0.145)

COSM250061

COSM3766193

13

TP53

C>G

Missense

17

4/11

rs1042522

c.215C>G

p.(Pro72Arg)

Tolerated (0.57)

Benign (0.145)

COSM250061

MSI-H

COSM3766193

14

KRAS

G>T

Missense

12

2/6

rs121913530

c.34G>T

p.(Gly12Cys)

Deleterious (0.04)

Probably damaging (0.995)

COSM1140136

MSI-H

COSM516

TP53

C>A

Missense

17

8/11

–

c.832C>A

p.(Pro278Thr)

Deleterious

Probably damaging (1)

COSM43697

COSM368635

TP53

C>G

Missense

17

4/11

rs1042522

c.215C>G

p.(Pro72Arg)

Tolerated (0.57)

Benign (0.145)

COSM250061

COSM3766193

15

KRAS

G>A

Missense

12

2/6

rs121913529

c.35G>A

p.(Gly12Asp)

Deleterious

Benign (0.36)

COSM521

MSI-L

COSM1135366

PIK3CA

G>A

Missense

3

10/21

rs104885999

c.1571G>A

p.(Arg524Lys)

Tolerated (0.95)

Benign

COSM53245

KIT

G>A

Missense

4

10/21

rs55792975

c.1594G>A

p.(Val532Ile)

Tolerated (0.06)

Benign (0.03)

–

TP53

T>G

Missense

17

7/11

–

c.712 T>G

p.(Cys238Gly)

Deleterious

Probably damaging (1)

COSM131450

COSM46336

TP53

C>G

Missense

17

4/11

rs1042522

c.215C>G

p.(Pro72Arg)

Tolerated (0.57)

Benign (0.145)

COSM250061

COSM3766193

16

TP53

C>G

Missense

17

4/11

rs1042522

c.215C>G

p.(Pro72Arg)

Tolerated (0.57)

Benign (0.145)

COSM250061

MSI-H

COSM3766193

17

TP53

C>G

Missense

17

4/11

rs1042522

c.215C>G

p.(Pro72Arg)

Tolerated (0.57)

Benign (0.145)

COSM250061

MSI-H

COSM3766193

18

PIK3CA

G >A

Missense

3

10/21

rs104885999

c.1571G>A

p.(Arg524Lys)

Tolerated (0.95)

benign

COSM53245

MSI-L

19

TP53

C>G

Missense

17

4/11

rs1042522

c.215C>G

p.(Pro72Arg)

Tolerated (0.57)

Benign (0.145)

COSM250061

MSI-H

COSM3766193

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