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Table 4 Variants called by the three NGS systems with a coverage of at least 200x and a VAF ≥10%

From: Quality assessment of a clinical next-generation sequencing melanoma panel within the Italian Melanoma Intergroup (IMI)

Gene RefSeq Protein DNA change
ARID2 NM_152641 p.Gln1031Ter c.3091C > T 1
BRAF NM_004333 p.Leu597Arg c.1790 T > G 1
BRAF NM_004333 p.Val600Glu c.1799 T > A 5
BRAF NM_004333 p.Val600Lys c.1798_1799delGTinsAA 1
BRAF NM_004333 p.Val600Asp c.1799_1800delTGinsAC 1
CDKN2A NM_001195132 p.Ala86fs c.256_268delGCCCGGGAGGGCT 1
ERBB4 NM_005235 p.Glu100Lys c.298G > A 1
ERBB4 NM_005235 p.His295Leu c.884A > T 1
KDR NM_002253 p.Gln472His c.1416A > T 4
KIT NM_000222 p.Met541Leu c.1621A > C 2
MET NM_001127500 p.Asn375Ser c.1124A > G 1
NRAS NM_002524 p.Gln61Arg c.182A > G 1
NRAS NM_002524 p.Gln61Lys c.181C > A 1
PIK3CA NM_006218 p.Ile391Met c.1173A > G 2
PPP6C NM_001123355 p.Arg264Cys c.790C > T 1
PTEN NM_000314 p.Ser287Ter c.860C > G 1
TP53 NM_000546 p.Pro72Arg c.215C > G 10
TP53 NM_000546 p.Met246Ile c.738G > A 1