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. 2006 Aug 11;44(2):99–106. doi: 10.1136/jmg.2006.043802

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)
5′ UTR c.‐34G→T None 1 1 5
Exon
c.9_32del24 None 1
c.18_19ins6 None 1
c.32_33ins9‐32 None 2 2 2
p.W15X None 1
c.46delC None 1
p.L16P None 1 2
p.L16R None 1
c.52_57dup6 None 1
p.G23D None 1
p.G23R None 1
p.R24P None 5 3
p.L32P None 1 3
p.G35A None 1 1
p.A36P None 1
p.P38R None 1
p.P48L None 1
p.P48T None 1
p.I49S None 1
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

The most frequent mutations for each continent are underlined.