Table 4 Composition and reference values for the external proficiency test samples (tissue and liquid biopsy parts; international proficiency test).

From: Multinational proficiency tests for EGFR exon 20 insertions reveal that the assay design matters

Tissue part

Case

EGFR exon20ins

c.HGVS

p.HGVS

Chromosome location hg38

Sample type

1

Yes

c.2300_2308dup

p.Ala767_Val769dup

7:55181309–55181317

Artificial material

2

Yes

c.2303_2311dup

p.Ser768_Asp770dup

7:55181312–55181320

3

No

–

–

–

4

Yes

c.2315_2320dup

p.His773_Val774insAlaHis

7: 55181324–55181329

5

Yes

c.2308_2309insGTT

p.Asp770delinsGlyTyr

7: 55181317–55181318

Liquid biopsy part

Case

EGFR exon20ins

c.HGVS

p.HGVS

Chromosome location hg38

Target VAF

1

Yes

c.2315_2320dup

p.His773_Val774insAlaHis

7: 55181324–55181329

5

2

Yes

c.2308_2309insGTT

p.Asp770delinsGlyTyr

7: 55181317–55181318

5

3

No

–

–

–

–

4

Yes

c.2311_2319dup

p.Asn771_His773dup

7: 55181320–55181328

10

5

Yes

c.2317_2319dup

p.His773dup

7: 55181326–55181328

2

  1. VAF: variant allelic fraction; c: DNA level; p: protein level; dup: duplication; ins: insertion; EGFR: epidermal growth factor receptor; EGFR exon20ins: insertion mutation in exon 20 of the EGFR gene; HGVS: Human Genome Variation Society. Ref-Seq ID: NM_005228.
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