. 2023 Feb 21;24(5):4302. doi: 10.3390/ijms24054302

Table 2.

Melanoma driver gene pathogenic mutations detected by Whole-Exome Sequencing (WES) acquired in the post-therapy melanoma lesions.

Patient ID	BRAF V600 Status	R	Gene	Ref seq	aa Change	Codon Change	AF %
#42	+	y	KIT *	NM_000222.2	p.Met541Leu	c.1621A>C	22.7
#42	+	y	EZH2 *	NM_004456.4	p.Tyr646Asn	c.1936T>A	16.7
#1	+	n	GNAQ *	NM_002072.5	p.Tyr101 *	c.303C>A	66.7
#62	+	n	KIT *	NM_000222.2	p.Met541Leu	c.1621A>C	46.5
#62	+	n	RB1 *	NM_000321.2	p.Asn123Asp	c.367A>G	49.1
#34	−	n	GNAQ *	NM_002072.5	p.Tyr101 *	c.303C>A	36.4
#34	−	n	GNAQ *	NM_002072.5	p.Thr96Ser	c.286A>T	33.3

Abbreviations: R: Response; n: no; y: yes; *: Pathogenic Mutations; AF: Allele Frequency.