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. 2018 Aug 13;473(4):489–503. doi: 10.1007/s00428-018-2411-4

Table 6.

Nomenclature inconsistencies by Ion Reporter

Gene Expected variant Ion Reporter variant
KIT c.1672_1674dupAAG p.(Lys558dup) c.1670_1671insGAA p.([Lys558dup)]
c.1679_1681delTTG p.(Val560del) c.1675_1677delGTT p.(Val559del)
c.1735_1737 p.(Asp579del) c.1733_1735delATG p.(Asp579del)
c.1730_1738del p.(Pro577_Asp579del) c.1728_1736del p.(Pro577_Asp579del)
EGFR c.2303_2311dup p.(Ser768_Asp770dup) c.2300_2301insCAGCGTGGA p.(Ala767_Ser768insSerValAsp)
BRAF c.1798_1799delGTinsAA p.(Val600Lys) c.1798_1799delGTinsAA p.(Val600Lys) plus c.1798G > A p.(Val600Met)

Five variants were identified by the IonReporter analysis workflow with the incorrect nomenclature and checked by Alamut Visual v2.7.1 (Interactive Biosoftware). A large proportion of nomenclature errors were deletions, insertions and duplications