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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.