Table 1.

CDKN2A mutations identified in population-based families in Australia and the United Kingdom

Gene element	CDK2NA gene variant (protein variant)				Families by Region
	p16INK4A		p14ARF		Australia			UK
	Nucleotide change1	Effect on protein	Nucleotide change1	Effect on protein2	Sydney	Melbourne	Brisbane	Leeds
5' UTR	c.−34G>T	r.−34_−32>p.M1	_		1			1
Exon 1α	c.9_32del24	p.A4_10Edel7	_					1
	c.32_33ins9_32	p.M1_S8dup	_		1			3
	c.52_57dup6	p.20T_21Adup	_			1		1
	c.68G>A	p.G23D	_					1
	c.95T>C	p.L32P	_			1
	c.104G>C	p.G35A	_					1
Exon 1β	_		c.81C>G	p.I27M		1
	_		c.193G>A	p.G65S			1
	_		c.193G>C	p.G65R	1
Exon 2	c.159G>C	p.M53I	c.202G>C	p.D68H				4
	c.188T>C	p.L63P	c.231T>C	p.A77A (silent)				1
	c.194T>C	p.L65P	c.237T>C	p.A79A (silent)			1
	c.202_203GC>TT	p.A68L	c.245_246GC>TT	p.R82L	1
	c.206A>G	p.E69G	c.249A>G	p.G83G (silent)	1		2
	c.212A>C	p.N71T	c.255A>C	p.Q85H				1
	c.228_246del19	p.L77TfsX62	c.271_289del19	p.R90VfsX75				2
	c.251A>C	p.D84A	c.294A>C	p.R84R (silent)				1
	c.331G>A	p.G111S	c.374G>A	p.G125E				1
Intron 2	c.458-105A>G	altered splicing	_	altered splicing		1		4
Total					5	4	4	22

¹Nucleotides are numbered from the first A of the initiation codon of p16^INK4A in the standard nomenclature for mutations employed.[23]

²Synonymous variants are presumed ‘silent’.