Table 2

Number of families with each mutation in CDKN2A by continent

Location of mutation	p16 amino acid or CDKN2A base change	p14ARF amino acid change	Europe (n = 89)	Australia (n = 32)	North America (n = 29)
The most frequent mutations for each continent are underlined.
5′ UTR	c.-34G→T	None	1	1	5

Exon
1α	c.9_32del24	None		1
1α	c.18_19ins6	None	1
1α	c.32_33ins9-32	None	2	2	2
1α	p.W15X	None		1
1α	c.46delC	None		1
1α	p.L16P	None	1	2
1α	p.L16R	None			1
1α	c.52_57dup6	None	1
1α	p.G23D	None	1
1α	p.G23R	None	1
1α	p.R24P	None	5	3
1α	p.L32P	None	1	3
1α	p.G35A	None	1	1
1α	p.A36P	None		1
1α	p.P38R	None	1
1α	p.P48L	None	1
1α	p.P48T	None	1
1α	p.I49S	None		1
1α	p.Q50R	None		1
2	p.V51F	p.G65V		1
2	p.M53I	p.D68H	6	5	3
2	c.167–197del31	p.1-70p14:70–156p16			1
2	p.R58X	p.P72L			1
2	p.V59G	p.S73R	2
2	p.L62P	p.A76A	1
2	p.L63P	p.A77A	1
2	p.L65P	p.A79A	1
2	p.G67R	p.R81P	2
2	p.G67S	p.R81Q	1	1
2	p.A68L	p.R82L	1
2	p.E69G	p.G83G	1
2	p.N71K	p.L86M	2
2	p.N71S	p.Q85Q		1	1
2	c.225_243del19	p.1–90p14:82–156p16	18	1	1
2	c.240_253del14	p.T95fs	1		1
2	p.R87P	p.P101P			1
2	p.L97R	p.P111P	1
2	p.R99P	p.P113P	1
2	p.G101W	p.R115L	10		4
2	c.307_308del2	p.A117fs			1
2	p.D108N	p.R122Q		1
2	p.R112G	p.P126R	1	1
2	p.R112_L113insR	p.S127-A128insS	11
2	p.L113L / p.P114S	p.A128T/ p.A128A	1
2	p.A118T	p.G132D	1
2	c.358delG	None	1
2	p.V126D	None	1		4
2	p.D153spl	p.1–65p14:154–156p16			1

Intron
2	c.IVS2-105A→G	None	6	3	1
2	c.IVS2+1G→T	p.1–65p14:154–156p16			1