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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

N°

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