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Table 1 Genes with alteration in the sample from the skeletal muscle metastasis of the patient

From: Synchronous lung and multiple soft tissue metastases developed from osteosarcoma of tibia: a rare case report and genetic profile analysis

Gene

Location

Nucleotide change

Amino acid change

Gene ID in databases

Mutation pattern

SIFT function

Polyphen-2 function

Therapeutic implication

 Somatic mutations

 RB1

exon21

c.2211 + 1G > C

NA

COSM7154357

Splicing

NA

NA

mTOR inhibitor

COSM7154356

 Germline mutation

 ALK

exon3

c.862 T > C

p.W288R

NA

Heterozygosis

Damaging

Damaging

VUS

 BLM

exon5

c.1021C > T

p.L341F

NA

Heterozygosis

Tolerated

Benign

VUS

 PTCH1

exon1

c.152_154del

p.51_52del

NA

Heterozygosis

Tolerated

Damaging

VUS

 MSH2

exon1

c.14C > A

p.P5Q

rs56170584

Heterozygosis

Tolerated

Damaging

VUS

 RAD51C

exon4

c.635G > A

p.R212H

rs200857129

Heterozygosis

Tolerated

Damaging

VUS

  1. NA not achieved, VUS variant of uncertain significance