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Table 2 Two novel frameshift TP53 mutations in Romanian patients with colorectal cancer

From: TP53 mutations in Romanian patients with colorectal cancer

Sample

ID

Sex

Age

Genomic

co-ordinate (hg38)

Coding DNA

description #

Genotype

Protein description

Exon

number

Mutation type

Predicted mutation effect$

RC21

M

63

g.7,676,204delA

c.165delT

t/-

p.E56Kfs*67

4-exon

frameshift

Deleterious/disease causing

RC38

M

68

g.7,673,600_7,673,593dup

c.928_935dup

-/aacaacac

p.S313Tfs*35

9-exon

frameshift

Deleterious/disease causing

  1. # Coding DNA is described using NM_000546.6,
  2. $ Mutation effect was predicted using MutationTaster2021, this web-based application tool uses Random Forest models to predict the effect of DNA variants and results are provided as tree votes in a binary prediction: deleterious (how many Random Forest decision trees indicate deleteriousness) versus benign (how many decision trees indicate benign change) [28]