Table 2.

NFE2L2 and KEAP1 somatic mutations and copy number alterations identified in human ccRCC and PRCC.

NFE2L2 mutations				KEAP1 mutations
ccRCC				ccRCC
CDS mutation	AA mutation	Mutation	Ref.	CDS mutation	AA mutation	Mutation	Ref.
c.70T>C	p.W24R	MM	[76]	c.160T>G	p.Y54D	MM	[12]
c.85C>G	p.D29H	MM	[76] TCGA	c.761A>C	p.K254T	MM	[23]
c.86A>T	p.D29V	MM	[77]	c.779G>A	p.R260Q	MM	[23]
c.89T>A	p.L30H	MM	[12]	c.779G>T	p.R260L	MM	[23]
c.92G>C	p.G31A	MM	[77]	c.1226T>C	p.M409T	MM	[12]
c.100C>G	p.R34G	MM	[12]	c.1330G>T	p.E444	NsM	[23]
c.239C>A	p.T80K	MM	[23]	c.1630T>C	p.W544R	MM	[12]
c.242G>A	p.G81D	MM	[12]	c.1735G>T	p.D759Y	MM	[23]
c.246A>C	p.E82D	MM	[12]	c.1752del	p.Y584	Del	[23]
c.739C>T	p.L247F	MM	[12]
c.1279G>T	p.E427	NsM	[12]
PRCC				PRCC
CDS mutation	AA mutation	Mutation	Ref.	CDS mutation	AA mutation	Mutation	Ref.
c.70T>C	p.W24R	MM	[78]	c.532C>T	p.Q178	NsM	TCGA
c.85G>T	p.D29Y	MM	TCGA
c.88C>T	L30F	MM	[68]
c.89T>G	p.L30R	MM	TCGA	Copy number alterations
c.106_108del	p.V36del	Del	[72]	ccRCC
c.230A>C	p.D77A	MM	[68]	Gene	Cytoband	Alteration	Ref.
c.239C>A	p.T80K	MM	TCGA	NFE2L2	2q31.2	Amp	[12]
c.242G>T	p.G81V	MM	TCGA	KEAP1	19p13.2	Del	[12]
c.245A>G	p.E82G	MM	[72] TCGA
c.246A>C	p.E82D	MM	TCGA	PRCC
	p.F339L	MM	TCGA	Gene	Cytoband	Alteration	Ref.
	p.P174T	MM	TCGA	NFE2L2	2q31.2	Amp	[12]

Mutations and alterations were extracted by COSMIC (Catalogue of Somatic Mutations in Cancer) database through cBioPortal and are listed with the relative reference. Alterations are indicated as missense mutations (MM), nonsense mutations (NsM), deletions (Del), amplifications (Amp).