Table 1.

Results from the PrASE assay and Sanger DNA sequencing.

Name1VariationNo. of samples with genotypeAllele frequencyReference(s)
Wt/Wt2Wt/MutMut/MutEstimated3Literature3
−226 A>T4A/T374780.340.3(18)
P18AC/G9200ND<0.005(19)
V38MG/A9200ND0.01(20)
I40TT/C9200ND0.073(21)
V60LG/T82910.0600.08rs18050055
A64SG/T9200ND0.007(1)
D84EC/A89300.0160.02rs18050065
V92MA/G711920.130.07rs22284795
T95MC/T91100.00540.003(22)
A103VC/T9200ND0.011(1)
V122MA/G90200.0110.109(21)
R142HA/G90200.0110.009(8)
R151CC/T711920.130.07(23)
I155TC/T90200.0110.009(22)
R160WC/T702110.130.13SNP0000629876
R163QA/G761510.0920.09rs8854795
537InsCCon/Var91100.00540.003(22)
R213WC/T90200.0110.02(23)
H260AA/C9200ND0.01(19)
D294HC/G90110.0160.03rs18050095
T314TA/G761420.098<0.05(22)
113InsR7G/T89300.016Unknown(12)(13)
A148T7G/A9200ND0.085rs37312495
  • 1 The variants are named by their amino acid number and change, or nucleotide number for the promoter and insertion variants.

  • 2 Wt, wild type; Mut, mutant; ND, not detected; Con, conserved; Var, variation.

  • 3 Samples were selected from a larger pool to contain many different variants.

  • 4 Numbered −226 according to sequencing results; previously numbered −225.

  • 5 GenBank accession number.

  • 6 Human Genome Variation database accession number.

  • 7 CDKN2A variants.