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. Author manuscript; available in PMC: 2013 Dec 9.
Published in final edited form as: J Thromb Haemost. 2010 Sep;8(9):10.1111/j.1538-7836.2010.03927.x. doi: 10.1111/j.1538-7836.2010.03927.x

Table 3.

VWF haplotype analysis of individuals carrying p.R924Q in type 1 VWD families

Sequence
variant		 Reported
allele
frequency* 		Family ID
P3F13 P6F5 P6F11a‡ P6F11b‡ P7F3 P9F14 P8F1 Common
haplotype
Promoter
c.-2527A>G		 0.68/0.32† A A G A A A A A
Exon 12
c.1411G>A
p.V411I		 0.45/0.55† G G G G G G G G
Exon 18
c.2365A>G
p.T789A		 0.66/0.34 A A A A NI A A A
Exon 21
c.2771G>A
p.R924Q		 0.98/0.02 A A A A A A A A
Exon 28
c.4141G>A
p.T1381A		 0.62/0.38 G G G G G G NI G
Intron 34
c.5843-8C>G		 0.97/0.03† G G G G G G NI G
Exon 35
c.5844C>T
p.C1948		 0.63/0.37 C C C C C C NI C
Intron 49
c.8116-20A>C		 0.78/0.22 A A A A A C A A
Intron 50
c.8155+50C>T		 0.87/0.13 C C C C C T C C
*

Caucasian frequency, reported on http://www.ncbi.nlm.nih.gov/SNP (Hap-Map European) or

‡

Haplotypes a and b were present in the same family; both parents were c.2771G>A heterozygous, the AFM was homozygous.

NI = non-informative.