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Table 3 List of previously reported TP53 mutations present in our study population&

From: TP53 mutations in Romanian patients with colorectal cancer

Sample ID

Genomic co-ordinate (hg38)

Coding DNA description#

Protein description

Genotype

Exon number

Effect

Wild type codon

Mutated codon

dbSNP_ID

RC33

g.7,676,106delG

c.267delC

p.S90Pfs*33

c/-

4-exon

frameshift

TCC

N/A

NA$

RC28

g.7,675,157G > A

c.455 C > T

p.P152L

c/t

5-exon

missense

CCG

CTG

rs587782705

RC37

g.7,675,125 A > G

c.487T > C

p.Y163H

t/c

5-exon

missense

TAC

CAC

rs786203436

RC31

g.7,675,077G > A

c.535 C > T

p.H179Y

c/t

5-exon

missense

CAT

TAT

rs587780070

RC07

g.7,674,947 A > T

c.584T > A

p.I195N

t/a

6-exon

missense

ATC

AAC

rs760043106

RC02

g.7,674,924 C > T

c.607G > A

p.V203M

g/a

6-exon

missense

GTG

ATG

rs730882003

RC20

g.7,674,887 C > T

c.644G > A

p.S215N

g/a

6-exon

missense

AGT

AAT

rs587782177

RC13

g.7,674,250 C > T

c.713G > A

p.C238Y

g/a

7-exon

missense

TGT

TAT

rs730882005

RC05

g.7,674,238 C > T

c.725G > A

p.C242Y

g/a

7-exon

missense

TGC

TAC

rs121912655

RC29

g.7,674,233 C > A

c.730G > T

p.G244C

g/t

7-exon

missense

GGC

TGC

rs1057519989

RC19

g.7,674,229 C > A

c.734G > T

p.G245V

g/t

7-exon

missense

GGC

GTC

rs121912656

RC27

g.7,674,221G > A

c.742 C > T

p.R248W

c/t

7-exon

missense

CGG

TGG

rs121912651

RC26

g.7,674,220 C > T

c.743G > A

p.R248Q

g/a

7-exon

missense

CGG

CAG

rs11540652

RC32

g.7,674,220 C > T

c.743G > A

p.R248Q

g/a

7-exon

missense

CGG

CAG

rs11540652

RC37

g.7,674,220 C > T

c.743G > A

p.R248Q

g/a

7-exon

missense

CGG

CAG

rs11540652

RC40

g.7,674,216 C > A

c.747G > T

p.R249S

g/t

7-exon

missense

AGG

AGT

rs28934571

RC09

g.7,673,803G > A

c.817 C > T

p.R273C

c/t

8-exon

missense

CGT

TGT

rs121913343

RC18

g.7,673,803G > A

c.817 C > T

p.R273C

c/t

8-exon

missense

CGT

TGT

rs121913343

RC36

g.7,673,802 C > A

c.818G > T

p.R273L

g/t

8-exon

missense

CGT

CTT

rs28934576

RC39

g.7,670,685G > A

c.1024 C > T

p.R342*

c/t

10-exon

nonsense

CGA

TGA

rs730882029

  1. &The mutations described in this table have been reported in dbSNP [29], and/or COSMIC [30]. For each mutation, we have included its dbSNP identification number in the dbSNP_ID column
  2. # Coding DNA is described using NM_000546.6, N/A: Not applicable (as there has been frameshift),
  3. NA$: In dbSNP (build 156) this mutation is described under rs587783062. It is a deletion (homopolymer) that may be at any position of the range chr17:7,676,102–7,676,106 (GRCh38.p13)
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