Table 1.
Nominal and actual results of the mutation analyses of KIT exons 9 and 11 and PDGFRA exon 18 performed in trial 1.
| sample | exon | nominal result | Lab A | Lab Ba | Lab Ca | Lab D | Lab Ea | Lab F |
|---|---|---|---|---|---|---|---|---|
| T1.1 | KIT 11 | c.1670_1675del6 | ||||||
| p.W557_V559delinsF | p.W557_K558del | p.W557_V559del | ||||||
| T1.2 | KIT 9 | c.1510_1515dup6 | ||||||
| p.A502_Y503dup | ||||||||
| T1.3 | KIT 11 | c.1714_1740dup27 | c.wild-type | |||||
| p.D572_H580dup | p.wild-type | |||||||
| T1.4 | KIT 11 | c.wild-type | c.1690_1692del | |||||
| p.wild-type | p. N564del | |||||||
| PDGFRA 18 | c.2527_2538del12 | c.wild-type | c.2464G>A | c.wild-type | ||||
| p.I843_D846del | p.D842_H845del | p.wild-type | p.R822H | p.wild-type | ||||
| T1.5 | KIT 9,11 | c.wild-type | ||||||
| PDGFRA 18 | p.wild-type | |||||||
| T1.6 | PDGFRA 18 | c.2525A>T | c.wild-type | |||||
| p.D842V | p.wild-type | |||||||
| T1.7 | KIT 9,11 | c.wild-type | ||||||
| PDGFRA 18 | p.wild-type | |||||||
| T1.8 | KIT 9,11 | c.wild-type | ||||||
| PDGFRA 18 | p.wild-type | |||||||
| T1.9 | KIT 9,11 | c.wild-type | ||||||
| PDGFRA 18 | p.wild-type | |||||||
| T1.10 | KIT 11 | c.1676T>A | c.wild-type | |||||
| p.V559D | p.wild-type | |||||||
Only the nominal results of the relevant exons are given, other exons are wild-type; for the individual panel labs only the actual results differing from the nominal results are denoted on DNA and protein level; matching results are not shown.
a changes in DNA sequence were not specified in Labs B, C and E