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Table 3 EGFR variations detected in Golestan ESCC cases with unknown impact on TK domain (according to "1000genomes" database) a

From: Epidermal growth factor receptor (EGFR) mutations and expression in squamous cell carcinoma of the esophagus in central Asia

Exon/Intron

Genomic number

Description

Frequency of detection

SNP ID

 18-Intron

155112

c.2184+100C>T

3

rs17290336

 18-Intron

155031

c.2184+19G>A

6

rs17337107

 18-Intron

155593

c.2185-98C>T

1b

rs62507090

 19-Intron

155858

c.2283+69G>A

1c

rs17337135

 19-Intron

162202

c.2284-60T>C

21

rs10241451

 19-Intron

162241

c.2284-21C>T

4

ESP_7_55248965d

 20-Exon

162339

c.2361A>G

51

rs1050171

 20-Exon

162435

c.2457G>A

1

rs56183713

 20-Exon

162351

c.2373del1

11

Not reported

 21-Intron

172911

c.2625+68C>T

1

Not reported

  1. a http://www.1000genomes.org/ensembl-browser.
  2. b This case has also TP53 mutation at exon 6, codon 211 (G:C>A:T).
  3. c This case has also TP53 mutation at exon 6, codon 217 (deletion1).
  4. d Reported from NHLBI GO Exome sequencing project.