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Table 2 Estimated population frequencies for antigen D negative RHD positive and Del haplotypes in Europeans

From: RHD positive haplotypes in D negative Europeans

  Frequencies
  In population Within haplotype
Allele Estimate 95% confidence interval Estimate Haplotype
D negative alleles
   RHD-CE(2-9)-D2 1:5,682 1:3,046 - 1:13,837 1:62 Cde
   RHD-CE(2-9)-D1 1:15,152 1:5,610 - 1:55,568 1:167 Cde
   RHD-CE(8-9)-D 1:15,152 1:5,610 - 1:55,568 1:167 Cde
   RHD-CE(4-7)-D1 1:18,036 1:6,678 - 1:66,145 1:101 cdE
   RHD-CE(2-7)-D1 1:22,727 1:6,798 - 1:128,041 1:250 Cde
   RHD-CE(2-7)-D2 1:22,727 1:6,798 - 1:128,041 1:250 Cde
   RHD(W16X) 1:22,727 1:6,798 - 1:128,041 1:250 Cde
   RHDψ 1:37,431 1:7,032 - 1:733,950 1:14,748 cde
   RHD-CE(4-7)-D2 1:45,455* 1:8,539 - 1:891,266 1:500* Cde or cdE
   Cdes 1:45,455 1:8,539 - 1:891,266 1:500 Cede s
   RHD(G212V) 1:45,455 1:8,539 - 1:891,266 1:500 Cde
   RHD(Y330X) 1:45,455 1:8,539 - 1:891,266 1:500 Cde
   RHD(IVS8+1G>A) 1:45,455 1:8,539 - 1:891,266 1:500 Cde
   RHCE(1-9)-D 1:54,107 1:10,164 - 1:1,060,924 1:303 cdE
associated with Cde 1:1,818 1:1,262 -1:2,711 1:20 Cde
associated with cdE 1:13,527 1:5,638 - 1:39,610 1:75 cdE
associated with cde 1:37,431 1:7,032 - 1:733,950 1:14,748 cde
Total 1:1,537 not applicable not applicable  
D el alleles
   RHD(M295I) 1:6,493 1:3,302 - 1:13,837 1:71 Cde
   RHD(K409K) 1:9,091 1:4,067 - 1:23,073 1:100 Cde
   RHD(IVS3+1G>A) 1:15,152 1:5,610 - 1:55,568 1:167 Cde
Total 1:3,030 1:1,913 - 1:5,610 1:33 Cde
  1. * Assuming a Cde haplotype; a cdE haplotype would result in a frequency of 1: 54,107 (95% confidence interval: 1:10,164 - 1:1,060,924; frequency within haplotype 1:303). Silent mutation adjacent to an intron/exon boundary, probably affecting splicing.
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